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<h1><a data-section="Header" data-ga-action="Click-on"
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data-ga-label="dbSNP Short Genetic Variations"
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ref="section=Header&action=Click-on&label=dbSNP Short Genetic Variations"
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href="/snp/">dbSNP</a>
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<span class="uswds-gray tagline">Short Genetic Variations</span>
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</h1>
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<div class="usa-alert-body">
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<h3 class="usa-alert-heading">Welcome to the Reference SNP (rs) Report</h3>
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<p class="usa-alert-text">All alleles are reported in the <a href="https://www.ncbi.nlm.nih.gov/core/assets/snp/docs/RefSNP_orientation_updates.pdf" target="_blank"
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data-ga-action="Click for forward orientation" data-ga-category="Info panel"
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data-ga-label="Forward orientation">Variant Details tab</a> for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the
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data-ga-label="HGVS tab">HGVS tab</a>.</p>
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<div class="usa-width-one-half">
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<h3>Reference SNP (rs) Report</h3>
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</div>
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<div class="usa-width-one-half">
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<ul class="utilities usa-unstyled-list align-right">
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<li title="Download in API JSON format"><a href="https://api.ncbi.nlm.nih.gov/variation/v0/refsnp/121913227"
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class="fa fa-question-circle ncbiPopper" id="mainhelp_tooltip"
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ref="section=Main&action=Click-on-Tooltip&label=main_tp"><span class="usa-sr-only">Help</span></a>
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<p id="main_tp">
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This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.<br/>
|
||
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.<br/>
|
||
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. <br/>
|
||
For more information see <a class="external-link" href="/snp/docs/refsnp_report/helpdoc"> Help documentation</a>.</p>
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<div class="usa-grid-full clearfix">
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<div class="usa-width-two-thirds">
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<div class="blue-box">
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<h2 id="refsnp_id">rs121913227</h2>
|
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</div>
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</div>
|
||
<div class="accession usa-width-one-third">
|
||
<p>Current Build <span>157</span></p>
|
||
<p>Released <span>
|
||
|
||
September 3, 2024
|
||
|
||
</span></p>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="summary-box usa-grid-full">
|
||
<dl class="usa-width-one-half">
|
||
|
||
<dt>Organism</dt>
|
||
<dd class="species_name">Homo sapiens</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Position</dt>
|
||
<dd>
|
||
|
||
<span>chr7:140753336-140753337 </span><span>(GRCh38.p14) </span><a data-width="640px" href="#pos_tp"
|
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ref="section=Summary&action=Click-on-Tooltip&label=pos_tp"
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data-section="Summary" data-ga-action="Click-on-Tooltip"
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data-ga-label="pos_tp" class="fa fa-question-circle ncbiPopper" id="position_tooltip"><span class="usa-sr-only">Help</span></a><p id="pos_tp">The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See <a href="/snp/docs/refsnp_report/helpdoc/">here</a> for details.</p>
|
||
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Alleles</dt>
|
||
<dd>
|
||
|
||
|
||
AC>CG / AC>CT / AC>TG / AC>TT
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
MNV
|
||
|
||
|
||
|
||
<span class="small-font gray">Multiple Nucleotide Variation</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div class="gray">None</div>
|
||
|
||
</dd>
|
||
|
||
</dl>
|
||
<dl class="usa-width-one-half">
|
||
|
||
<dt>Clinical Significance</dt>
|
||
<dd>
|
||
|
||
Reported in <a target="_blank" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Reported in ClinVar"
|
||
ref="section=Summary&action=Click-on&label=Reported in ClinVar"
|
||
href="/clinvar?term=((362819[AlleleID])OR(362820[AlleleID]))">ClinVar</a>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Gene : Consequence</dt>
|
||
<dd>
|
||
|
||
<span>BRAF : Missense Variant</span>
|
||
|
||
</dd>
|
||
|
||
<dt>Publications</dt>
|
||
<dd>
|
||
|
||
<a id="snp_pub_count" href="#publications">21
|
||
citations
|
||
</a>
|
||
|
||
</dd>
|
||
|
||
|
||
<dt>Genomic View</dt>
|
||
<dd>
|
||
<a href="#seq_hash" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Genomic View See rs on genome"
|
||
ref="section=Summary&action=Click-on&label=Genomic View See rs on genome">See rs on
|
||
genome</a>
|
||
</dd>
|
||
|
||
</dl>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="js-tabs">
|
||
<ul class="js-tablist" data-section="Tab">
|
||
|
||
<li class="js-tablist__item">
|
||
<a href="#variant_details" ref="section=Tab&action=Click-on&label=Variant Details"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Variant Details" id="label_id_first"
|
||
class="js-tablist__link">Variant Details
|
||
<span class="js-tablist__item-has-focus" aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#clinical_significance"
|
||
ref="section=Tab&action=Click-on&label=Clinical Significance"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Clinical Significance" id="label_id_second"
|
||
class="js-tablist__link">Clinical
|
||
Significance
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#hgvs_tab" ref="section=Tab&action=Click-on&label=HGVS"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="HGVS" id="label_id_fourth"
|
||
class="js-tablist__link">HGVS
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#submissions" ref="section=Tab&action=Click-on&label=Submissions"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Submissions" id="label_id_fifth"
|
||
class="js-tablist__link">Submissions
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#history" ref="section=Tab&action=Click-on&label=History"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="History" id="label_id_sixth"
|
||
class="js-tablist__link">History
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#publications" ref="section=Tab&action=Click-on&label=Publications"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Publications" id="label_id_seventh"
|
||
class="js-tablist__link">Publications
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#flanks" ref="section=Tab&action=Click-on&label=Flanks"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Flanks" id="label_id_eighth"
|
||
class="js-tablist__link">Flanks
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
|
||
</ul>
|
||
<div id="frequency_tab" class="js-tabcontent">
|
||
|
||
|
||
<a data-width="640px" href="#frequency_tp"
|
||
ref="section=Frequency&action=Click-on-Tooltip&label=frequency_tp"
|
||
data-section="Frequency" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="frequency_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="frequency_tp">
|
||
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
|
||
</p>
|
||
|
||
|
||
|
||
|
||
<div>None</div>
|
||
|
||
|
||
</div>
|
||
<div id="variant_details" class="js-tabcontent">
|
||
<a data-width="640px" href="#variant_details_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=variant_details_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="variant_details_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="variant_details_tp">
|
||
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with <a class="external-link" href="/variation/docs/glossary/#MolCon" rel="nofollow" target="_blank">molecular consequences</a> from <a class="external-link" href="http://www.sequenceontology.org/" rel="nofollow" target="_blank">Sequence Ontology</a>. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.</p>
|
||
|
||
|
||
|
||
|
||
<div>
|
||
|
||
<div class="sect_heading">Genomic Placements</div>
|
||
<div id="gene_plac_allele">
|
||
<!-- display class is a short-cut for specifying the stripe hover order-column
|
||
row-border as the class name for a table -->
|
||
<table id="genomics_placements_table" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Sequence name</th>
|
||
<th>Change</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 7</td>
|
||
<td>NC_000007.14:g.140753336_140753337delinsCG</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 7</td>
|
||
<td>NC_000007.14:g.140753336_140753337delinsCT</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 7</td>
|
||
<td>NC_000007.14:g.140753336_140753337delinsTG</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 7</td>
|
||
<td>NC_000007.14:g.140753336_140753337delinsTT</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 7</td>
|
||
<td>NC_000007.13:g.140453136_140453137delinsCG</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 7</td>
|
||
<td>NC_000007.13:g.140453136_140453137delinsCT</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 7</td>
|
||
<td>NC_000007.13:g.140453136_140453137delinsTG</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 7</td>
|
||
<td>NC_000007.13:g.140453136_140453137delinsTT</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>BRAF RefSeqGene (LRG_299)</td>
|
||
<td>NG_007873.3:g.176428_176429delinsCG</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>BRAF RefSeqGene (LRG_299)</td>
|
||
<td>NG_007873.3:g.176428_176429delinsAG</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>BRAF RefSeqGene (LRG_299)</td>
|
||
<td>NG_007873.3:g.176428_176429delinsCA</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>BRAF RefSeqGene (LRG_299)</td>
|
||
<td>NG_007873.3:g.176428_176429delinsAA</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
|
||
|
||
<div id="trans_anno_allele">
|
||
|
||
|
||
|
||
<div class="sect_heading">
|
||
Gene: <a target="_blank" data-section="Variant Details"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="transcript_annotation_gene_link"
|
||
ref="section=Variant Details&action=Click-on&label=transcript_annotation_gene_link"
|
||
href="/gene/673">BRAF</a>, B-Raf proto-oncogene, serine/threonine kinase
|
||
(minus strand)
|
||
|
||
</div>
|
||
<table class="trans_anno_allele_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Molecule type</th>
|
||
<th>Change</th>
|
||
<th>Amino acid[Codon]</th>
|
||
<th>SO Term</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_12_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_004333.6:c.1798_1799de…</a><p id="gene_change_12_tp" class="break_values long_value_tooltip">NM_004333.6:c.1798_1799delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_004324.2:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_22_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_004333.6:c.1798_1799de…</a><p id="gene_change_22_tp" class="break_values long_value_tooltip">NM_004333.6:c.1798_1799delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_004324.2:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_32_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_004333.6:c.1798_1799de…</a><p id="gene_change_32_tp" class="break_values long_value_tooltip">NM_004333.6:c.1798_1799delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_004324.2:p.Val600Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_42_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_004333.6:c.1798_1799de…</a><p id="gene_change_42_tp" class="break_values long_value_tooltip">NM_004333.6:c.1798_1799delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_004324.2:p.Val600Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_52_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001354609.2:c.1798_179…</a><p id="gene_change_52_tp" class="break_values long_value_tooltip">NM_001354609.2:c.1798_1799delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001341538.1:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_62_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001354609.2:c.1798_179…</a><p id="gene_change_62_tp" class="break_values long_value_tooltip">NM_001354609.2:c.1798_1799delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001341538.1:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_72_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001354609.2:c.1798_179…</a><p id="gene_change_72_tp" class="break_values long_value_tooltip">NM_001354609.2:c.1798_1799delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001341538.1:p.Val600Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_82_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001354609.2:c.1798_179…</a><p id="gene_change_82_tp" class="break_values long_value_tooltip">NM_001354609.2:c.1798_1799delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001341538.1:p.Val600Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 4</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_92_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374244.1:c.1918_191…</a><p id="gene_change_92_tp" class="break_values long_value_tooltip">NM_001374244.1:c.1918_1919delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361173.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 4</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_102_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374244.1:c.1918_191…</a><p id="gene_change_102_tp" class="break_values long_value_tooltip">NM_001374244.1:c.1918_1919delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361173.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 4</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_112_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374244.1:c.1918_191…</a><p id="gene_change_112_tp" class="break_values long_value_tooltip">NM_001374244.1:c.1918_1919delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361173.1:p.Val640Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 4</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_122_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374244.1:c.1918_191…</a><p id="gene_change_122_tp" class="break_values long_value_tooltip">NM_001374244.1:c.1918_1919delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361173.1:p.Val640Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 5</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_132_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374258.1:c.1918_191…</a><p id="gene_change_132_tp" class="break_values long_value_tooltip">NM_001374258.1:c.1918_1919delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 4</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361187.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 5</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_142_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374258.1:c.1918_191…</a><p id="gene_change_142_tp" class="break_values long_value_tooltip">NM_001374258.1:c.1918_1919delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 4</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361187.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 5</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_152_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374258.1:c.1918_191…</a><p id="gene_change_152_tp" class="break_values long_value_tooltip">NM_001374258.1:c.1918_1919delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 4</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361187.1:p.Val640Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 5</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_162_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001374258.1:c.1918_191…</a><p id="gene_change_162_tp" class="break_values long_value_tooltip">NM_001374258.1:c.1918_1919delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 4</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001361187.1:p.Val640Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 11</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_172_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378472.1:c.1642_164…</a><p id="gene_change_172_tp" class="break_values long_value_tooltip">NM_001378472.1:c.1642_1643delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 10</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365401.1:p.Val548Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 11</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_182_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378472.1:c.1642_164…</a><p id="gene_change_182_tp" class="break_values long_value_tooltip">NM_001378472.1:c.1642_1643delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 10</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365401.1:p.Val548Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 11</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_192_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378472.1:c.1642_164…</a><p id="gene_change_192_tp" class="break_values long_value_tooltip">NM_001378472.1:c.1642_1643delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 10</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365401.1:p.Val548Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 11</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_202_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378472.1:c.1642_164…</a><p id="gene_change_202_tp" class="break_values long_value_tooltip">NM_001378472.1:c.1642_1643delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 10</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365401.1:p.Val548Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_212_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378467.1:c.1807_180…</a><p id="gene_change_212_tp" class="break_values long_value_tooltip">NM_001378467.1:c.1807_1808delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 5</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365396.1:p.Val603Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_222_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378467.1:c.1807_180…</a><p id="gene_change_222_tp" class="break_values long_value_tooltip">NM_001378467.1:c.1807_1808delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 5</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365396.1:p.Val603Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_232_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378467.1:c.1807_180…</a><p id="gene_change_232_tp" class="break_values long_value_tooltip">NM_001378467.1:c.1807_1808delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 5</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365396.1:p.Val603Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_242_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378467.1:c.1807_180…</a><p id="gene_change_242_tp" class="break_values long_value_tooltip">NM_001378467.1:c.1807_1808delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 5</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365396.1:p.Val603Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 8</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_252_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378469.1:c.1732_173…</a><p id="gene_change_252_tp" class="break_values long_value_tooltip">NM_001378469.1:c.1732_1733delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 7</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365398.1:p.Val578Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 8</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_262_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378469.1:c.1732_173…</a><p id="gene_change_262_tp" class="break_values long_value_tooltip">NM_001378469.1:c.1732_1733delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 7</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365398.1:p.Val578Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 8</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_272_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378469.1:c.1732_173…</a><p id="gene_change_272_tp" class="break_values long_value_tooltip">NM_001378469.1:c.1732_1733delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 7</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365398.1:p.Val578Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 8</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_282_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378469.1:c.1732_173…</a><p id="gene_change_282_tp" class="break_values long_value_tooltip">NM_001378469.1:c.1732_1733delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 7</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365398.1:p.Val578Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 7</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_292_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378468.1:c.1798_179…</a><p id="gene_change_292_tp" class="break_values long_value_tooltip">NM_001378468.1:c.1798_1799delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365397.1:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 7</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_302_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378468.1:c.1798_179…</a><p id="gene_change_302_tp" class="break_values long_value_tooltip">NM_001378468.1:c.1798_1799delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365397.1:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 7</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_312_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378468.1:c.1798_179…</a><p id="gene_change_312_tp" class="break_values long_value_tooltip">NM_001378468.1:c.1798_1799delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365397.1:p.Val600Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 7</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_322_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378468.1:c.1798_179…</a><p id="gene_change_322_tp" class="break_values long_value_tooltip">NM_001378468.1:c.1798_1799delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365397.1:p.Val600Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 9</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_332_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378470.1:c.1696_169…</a><p id="gene_change_332_tp" class="break_values long_value_tooltip">NM_001378470.1:c.1696_1697delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 8</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365399.1:p.Val566Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 9</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_342_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378470.1:c.1696_169…</a><p id="gene_change_342_tp" class="break_values long_value_tooltip">NM_001378470.1:c.1696_1697delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 8</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365399.1:p.Val566Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 9</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_352_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378470.1:c.1696_169…</a><p id="gene_change_352_tp" class="break_values long_value_tooltip">NM_001378470.1:c.1696_1697delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 8</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365399.1:p.Val566Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 9</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_362_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378470.1:c.1696_169…</a><p id="gene_change_362_tp" class="break_values long_value_tooltip">NM_001378470.1:c.1696_1697delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 8</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365399.1:p.Val566Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 14</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_372_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378475.1:c.1534_153…</a><p id="gene_change_372_tp" class="break_values long_value_tooltip">NM_001378475.1:c.1534_1535delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 13</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365404.1:p.Val512Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 14</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_382_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378475.1:c.1534_153…</a><p id="gene_change_382_tp" class="break_values long_value_tooltip">NM_001378475.1:c.1534_1535delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 13</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365404.1:p.Val512Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 14</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_392_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378475.1:c.1534_153…</a><p id="gene_change_392_tp" class="break_values long_value_tooltip">NM_001378475.1:c.1534_1535delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 13</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365404.1:p.Val512Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 14</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_402_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378475.1:c.1534_153…</a><p id="gene_change_402_tp" class="break_values long_value_tooltip">NM_001378475.1:c.1534_1535delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 13</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365404.1:p.Val512Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 10</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_412_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378471.1:c.1687_168…</a><p id="gene_change_412_tp" class="break_values long_value_tooltip">NM_001378471.1:c.1687_1688delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 9</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365400.1:p.Val563Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 10</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_422_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378471.1:c.1687_168…</a><p id="gene_change_422_tp" class="break_values long_value_tooltip">NM_001378471.1:c.1687_1688delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 9</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365400.1:p.Val563Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 10</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_432_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378471.1:c.1687_168…</a><p id="gene_change_432_tp" class="break_values long_value_tooltip">NM_001378471.1:c.1687_1688delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 9</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365400.1:p.Val563Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 10</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_442_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378471.1:c.1687_168…</a><p id="gene_change_442_tp" class="break_values long_value_tooltip">NM_001378471.1:c.1687_1688delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 9</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365400.1:p.Val563Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 12</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_452_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378473.1:c.1642_164…</a><p id="gene_change_452_tp" class="break_values long_value_tooltip">NM_001378473.1:c.1642_1643delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 11</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365402.1:p.Val548Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 12</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_462_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378473.1:c.1642_164…</a><p id="gene_change_462_tp" class="break_values long_value_tooltip">NM_001378473.1:c.1642_1643delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 11</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365402.1:p.Val548Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 12</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_472_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378473.1:c.1642_164…</a><p id="gene_change_472_tp" class="break_values long_value_tooltip">NM_001378473.1:c.1642_1643delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 11</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365402.1:p.Val548Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 12</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_482_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378473.1:c.1642_164…</a><p id="gene_change_482_tp" class="break_values long_value_tooltip">NM_001378473.1:c.1642_1643delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 11</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365402.1:p.Val548Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 13</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_492_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378474.1:c.1798_179…</a><p id="gene_change_492_tp" class="break_values long_value_tooltip">NM_001378474.1:c.1798_1799delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 12</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365403.1:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 13</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_502_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378474.1:c.1798_179…</a><p id="gene_change_502_tp" class="break_values long_value_tooltip">NM_001378474.1:c.1798_1799delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 12</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365403.1:p.Val600Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant 13</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_512_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378474.1:c.1798_179…</a><p id="gene_change_512_tp" class="break_values long_value_tooltip">NM_001378474.1:c.1798_1799delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform 12</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365403.1:p.Val600Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant 13</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_522_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">NM_001378474.1:c.1798_179…</a><p id="gene_change_522_tp" class="break_values long_value_tooltip">NM_001378474.1:c.1798_1799delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform 12</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001365403.1:p.Val600Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X4</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_532_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420768.1:c.1815-391…</a><p id="gene_change_532_tp" class="break_values long_value_tooltip">XM_047420768.1:c.1815-3919_1815-3918delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
|
||
N/A
|
||
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Intron Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X5</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_542_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420769.1:c.1695-391…</a><p id="gene_change_542_tp" class="break_values long_value_tooltip">XM_047420769.1:c.1695-3919_1695-3918delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
|
||
N/A
|
||
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Intron Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_552_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_017012559.2:c.1918_191…</a><p id="gene_change_552_tp" class="break_values long_value_tooltip">XM_017012559.2:c.1918_1919delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_016868048.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_562_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_017012559.2:c.1918_191…</a><p id="gene_change_562_tp" class="break_values long_value_tooltip">XM_017012559.2:c.1918_1919delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_016868048.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_572_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_017012559.2:c.1918_191…</a><p id="gene_change_572_tp" class="break_values long_value_tooltip">XM_017012559.2:c.1918_1919delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_016868048.1:p.Val640Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X1</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_582_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_017012559.2:c.1918_191…</a><p id="gene_change_582_tp" class="break_values long_value_tooltip">XM_017012559.2:c.1918_1919delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_016868048.1:p.Val640Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_592_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420766.1:c.1762_176…</a><p id="gene_change_592_tp" class="break_values long_value_tooltip">XM_047420766.1:c.1762_1763delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276722.1:p.Val588Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_602_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420766.1:c.1762_176…</a><p id="gene_change_602_tp" class="break_values long_value_tooltip">XM_047420766.1:c.1762_1763delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276722.1:p.Val588Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_612_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420766.1:c.1762_176…</a><p id="gene_change_612_tp" class="break_values long_value_tooltip">XM_047420766.1:c.1762_1763delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276722.1:p.Val588Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X2</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_622_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420766.1:c.1762_176…</a><p id="gene_change_622_tp" class="break_values long_value_tooltip">XM_047420766.1:c.1762_1763delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X2</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276722.1:p.Val588Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X3</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_632_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420767.1:c.1918_191…</a><p id="gene_change_632_tp" class="break_values long_value_tooltip">XM_047420767.1:c.1918_1919delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276723.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X3</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_642_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420767.1:c.1918_191…</a><p id="gene_change_642_tp" class="break_values long_value_tooltip">XM_047420767.1:c.1918_1919delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276723.1:p.Val640Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X3</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_652_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420767.1:c.1918_191…</a><p id="gene_change_652_tp" class="break_values long_value_tooltip">XM_047420767.1:c.1918_1919delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276723.1:p.Val640Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X3</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_662_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420767.1:c.1918_191…</a><p id="gene_change_662_tp" class="break_values long_value_tooltip">XM_047420767.1:c.1918_1919delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X3</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276723.1:p.Val640Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_672_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420770.1:c.1084_108…</a><p id="gene_change_672_tp" class="break_values long_value_tooltip">XM_047420770.1:c.1084_1085delinsCG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">CG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276726.1:p.Val362Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_682_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420770.1:c.1084_108…</a><p id="gene_change_682_tp" class="break_values long_value_tooltip">XM_047420770.1:c.1084_1085delinsAG</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > R [</span><span class="codon-hilite">AG</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276726.1:p.Val362Arg
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > R (Arg)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>BRAF transcript variant X6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_692_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420770.1:c.1084_108…</a><p id="gene_change_692_tp" class="break_values long_value_tooltip">XM_047420770.1:c.1084_1085delinsCA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > Q [</span><span class="codon-hilite">CA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>serine/threonine-protein kinase B-raf isoform X6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276726.1:p.Val362Gln
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > Q (Gln)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>BRAF transcript variant X6</td>
|
||
<td>
|
||
<span><a data-width="640px" href="#gene_change_702_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=gene_change_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="gene_change_tp" class="ncbiPopper">XM_047420770.1:c.1084_108…</a><p id="gene_change_702_tp" class="break_values long_value_tooltip">XM_047420770.1:c.1084_1085delinsAA</p></span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">V [</span><span class="codon-hilite">GT</span><span class="codon-ghost">G</span><span class="codon-plain">] > K [</span><span class="codon-hilite">AA</span><span class="codon-ghost">G</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>serine/threonine-protein kinase B-raf isoform X6</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047276726.1:p.Val362Lys
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
V (Val) > K (Lys)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div id="clinical_significance" class="js-tabcontent">
|
||
<div>
|
||
<a data-width="640px" href="#clin_sig_tp"
|
||
ref="section=Clinical Significance&action=Click-on-Tooltip&label=clinical_significance_tp"
|
||
data-section="Clinical Significance" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="clinical_significance_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="clin_sig_tp">
|
||
Clinical Significance tab shows a list of <a class="external-link" href="/clinvar/docs/clinsig" rel="nofollow" target="_blank">clinical significance </a>entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. <a href="/clinvar/RCV000001615.2" rel="nofollow" target="_blank">RCV000001615.2</a>) or Allele ID (i.e. <a href="/clinvar/variation/12274/" rel="nofollow" target="_blank">12274</a>) to access full ClinVar report.</p>
|
||
|
||
|
||
|
||
|
||
<div class="sect_heading">Allele: CT (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(362819[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
362819
|
||
</a>)
|
||
</div>
|
||
|
||
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
|
||
<thead>
|
||
<tr>
|
||
<th>ClinVar Accession</th>
|
||
<th>Disease Names</th>
|
||
<th>Clinical Significance</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000440177.1">RCV000440177.1</a>
|
||
</td>
|
||
<td>Melanoma</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
<div class="sect_heading">Allele: TT (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(362820[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
362820
|
||
</a>)
|
||
</div>
|
||
|
||
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
|
||
<thead>
|
||
<tr>
|
||
<th>ClinVar Accession</th>
|
||
<th>Disease Names</th>
|
||
<th>Clinical Significance</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000422502.1">RCV000422502.1</a>
|
||
</td>
|
||
<td>Melanoma</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001355295.1">RCV001355295.1</a>
|
||
</td>
|
||
<td>not provided</td>
|
||
<td>Uncertain-Significance</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="hgvs_tab" class="js-tabcontent">
|
||
<a data-width="640px" href="#aliases_tp"
|
||
ref="section=HGVS&action=Click-on-Tooltip&label=aliases_tp"
|
||
data-section="HGVS" data-ga-action="Click-on-Tooltip" data-ga-label="aliases_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="aliases_tp">
|
||
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. <a href="http://varnomen.hgvs.org/">HGVS name</a> is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".</p>
|
||
|
||
<div id="hgvs">
|
||
<table id="alliases_alleles_datatable" class="stripe">
|
||
<thead class="allele_wrap">
|
||
<tr>
|
||
<th>Placement</th>
|
||
|
||
<th>
|
||
AC=
|
||
</th>
|
||
|
||
<th>
|
||
CG
|
||
</th>
|
||
|
||
<th>
|
||
CT
|
||
</th>
|
||
|
||
<th>
|
||
TG
|
||
</th>
|
||
|
||
<th>
|
||
TT
|
||
</th>
|
||
|
||
</tr>
|
||
</thead>
|
||
<tbody class="allele_wrap">
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh38.p14 chr 7
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.140753336_140753337=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.140753336_140753337delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.140753336_140753337delinsCT
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.140753336_140753337delinsTG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.14:g.140753336_140753337delinsTT
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr 7
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.140453136_140453137=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.140453136_140453137delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.140453136_140453137delinsCT
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.140453136_140453137delinsTG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000007.13:g.140453136_140453137delinsTT
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF RefSeqGene (LRG_299)
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007873.3:g.176428_176429=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007873.3:g.176428_176429delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007873.3:g.176428_176429delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007873.3:g.176428_176429delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007873.3:g.176428_176429delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.6:c.1798_1799=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.6:c.1798_1799delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.6:c.1798_1799delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.6:c.1798_1799delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.6:c.1798_1799delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.5:c.1798_1799=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.5:c.1798_1799delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.5:c.1798_1799delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.5:c.1798_1799delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.5:c.1798_1799delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.4:c.1798_1799=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.4:c.1798_1799delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.4:c.1798_1799delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.4:c.1798_1799delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004333.4:c.1798_1799delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.2:c.1798_1799=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.2:c.1798_1799delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.2:c.1798_1799delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.2:c.1798_1799delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.2:c.1798_1799delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.1:c.1798_1799=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.1:c.1798_1799delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.1:c.1798_1799delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.1:c.1798_1799delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001354609.1:c.1798_1799delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 5
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374258.1:c.1918_1919=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374258.1:c.1918_1919delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374258.1:c.1918_1919delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374258.1:c.1918_1919delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374258.1:c.1918_1919delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 6
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378467.1:c.1807_1808=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378467.1:c.1807_1808delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378467.1:c.1807_1808delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378467.1:c.1807_1808delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378467.1:c.1807_1808delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 9
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378470.1:c.1696_1697=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378470.1:c.1696_1697delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378470.1:c.1696_1697delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378470.1:c.1696_1697delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378470.1:c.1696_1697delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 10
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378471.1:c.1687_1688=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378471.1:c.1687_1688delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378471.1:c.1687_1688delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378471.1:c.1687_1688delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378471.1:c.1687_1688delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 7
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378468.1:c.1798_1799=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378468.1:c.1798_1799delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378468.1:c.1798_1799delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378468.1:c.1798_1799delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378468.1:c.1798_1799delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 14
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378475.1:c.1534_1535=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378475.1:c.1534_1535delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378475.1:c.1534_1535delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378475.1:c.1534_1535delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378475.1:c.1534_1535delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 11
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378472.1:c.1642_1643=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378472.1:c.1642_1643delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378472.1:c.1642_1643delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378472.1:c.1642_1643delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378472.1:c.1642_1643delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 4
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374244.1:c.1918_1919=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374244.1:c.1918_1919delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374244.1:c.1918_1919delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374244.1:c.1918_1919delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001374244.1:c.1918_1919delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 8
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378469.1:c.1732_1733=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378469.1:c.1732_1733delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378469.1:c.1732_1733delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378469.1:c.1732_1733delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378469.1:c.1732_1733delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 12
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378473.1:c.1642_1643=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378473.1:c.1642_1643delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378473.1:c.1642_1643delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378473.1:c.1642_1643delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378473.1:c.1642_1643delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant X1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.2:c.1918_1919=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.2:c.1918_1919delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.2:c.1918_1919delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.2:c.1918_1919delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.2:c.1918_1919delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant X2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.1:c.1918_1919=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.1:c.1918_1919delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.1:c.1918_1919delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.1:c.1918_1919delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_017012559.1:c.1918_1919delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 3
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.2:n.2897_2898=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.2:n.2897_2898delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.2:n.2897_2898delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.2:n.2897_2898delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.2:n.2897_2898delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant X2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420766.1:c.1762_1763=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420766.1:c.1762_1763delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420766.1:c.1762_1763delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420766.1:c.1762_1763delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420766.1:c.1762_1763delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant X6
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420770.1:c.1084_1085=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420770.1:c.1084_1085delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420770.1:c.1084_1085delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420770.1:c.1084_1085delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420770.1:c.1084_1085delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 3
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.1:n.2896_2897=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.1:n.2896_2897delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.1:n.2896_2897delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.1:n.2896_2897delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NR_148928.1:n.2896_2897delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant 13
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378474.1:c.1798_1799=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378474.1:c.1798_1799delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378474.1:c.1798_1799delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378474.1:c.1798_1799delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001378474.1:c.1798_1799delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant X3
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420767.1:c.1918_1919=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420767.1:c.1918_1919delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420767.1:c.1918_1919delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420767.1:c.1918_1919delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420767.1:c.1918_1919delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004324.2:p.Val600=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004324.2:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004324.2:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004324.2:p.Val600Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004324.2:p.Val600Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001341538.1:p.Val600=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001341538.1:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001341538.1:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001341538.1:p.Val600Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001341538.1:p.Val600Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 4
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361187.1:p.Val640=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361187.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361187.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361187.1:p.Val640Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361187.1:p.Val640Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 5
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365396.1:p.Val603=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365396.1:p.Val603Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365396.1:p.Val603Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365396.1:p.Val603Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365396.1:p.Val603Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 8
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365399.1:p.Val566=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365399.1:p.Val566Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365399.1:p.Val566Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365399.1:p.Val566Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365399.1:p.Val566Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 9
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365400.1:p.Val563=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365400.1:p.Val563Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365400.1:p.Val563Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365400.1:p.Val563Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365400.1:p.Val563Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 6
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365397.1:p.Val600=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365397.1:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365397.1:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365397.1:p.Val600Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365397.1:p.Val600Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 13
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365404.1:p.Val512=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365404.1:p.Val512Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365404.1:p.Val512Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365404.1:p.Val512Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365404.1:p.Val512Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 10
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365401.1:p.Val548=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365401.1:p.Val548Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365401.1:p.Val548Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365401.1:p.Val548Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365401.1:p.Val548Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 3
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361173.1:p.Val640=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361173.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361173.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361173.1:p.Val640Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001361173.1:p.Val640Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 7
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365398.1:p.Val578=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365398.1:p.Val578Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365398.1:p.Val578Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365398.1:p.Val578Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365398.1:p.Val578Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 11
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365402.1:p.Val548=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365402.1:p.Val548Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365402.1:p.Val548Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365402.1:p.Val548Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365402.1:p.Val548Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform X1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_016868048.1:p.Val640=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_016868048.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_016868048.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_016868048.1:p.Val640Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_016868048.1:p.Val640Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform X2
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276722.1:p.Val588=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276722.1:p.Val588Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276722.1:p.Val588Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276722.1:p.Val588Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276722.1:p.Val588Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform X6
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276726.1:p.Val362=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276726.1:p.Val362Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276726.1:p.Val362Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276726.1:p.Val362Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276726.1:p.Val362Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform 12
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365403.1:p.Val600=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365403.1:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365403.1:p.Val600Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365403.1:p.Val600Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001365403.1:p.Val600Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
serine/threonine-protein kinase B-raf isoform X3
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276723.1:p.Val640=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276723.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276723.1:p.Val640Arg
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276723.1:p.Val640Gln
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047276723.1:p.Val640Lys
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant X4
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420768.1:c.1815-3918=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420768.1:c.1815-3919_1815-3918delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420768.1:c.1815-3919_1815-3918delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420768.1:c.1815-3919_1815-3918delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420768.1:c.1815-3919_1815-3918delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
BRAF transcript variant X5
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420769.1:c.1695-3918=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420769.1:c.1695-3919_1695-3918delinsCG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420769.1:c.1695-3919_1695-3918delinsAG
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420769.1:c.1695-3919_1695-3918delinsCA
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047420769.1:c.1695-3919_1695-3918delinsAA
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
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|
||
</a>
|
||
<p id="submissions_tp">
|
||
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs).
|
||
We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time.
|
||
Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
|
||
</p>
|
||
|
||
|
||
<div class="sect_heading">
|
||
|
||
6 SubSNP,
|
||
|
||
3 ClinVar
|
||
submissions
|
||
</div>
|
||
<div id="submission">
|
||
<table id="submission_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>No</th>
|
||
<th>Submitter</th>
|
||
<th>Submission ID</th>
|
||
<th>Date (Build)</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr >
|
||
<td>1</td>
|
||
<td>
|
||
|
||
DF-BWCC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss275515045">ss275515045</a>
|
||
|
||
</td>
|
||
<td>Nov 22, 2010
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</td>
|
||
<td>
|
||
|
||
DF-BWCC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss275515236">ss275515236</a>
|
||
|
||
</td>
|
||
<td>May 06, 2011
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>3</td>
|
||
<td>
|
||
|
||
CSS-BFX
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8442109021">ss8442109021</a>
|
||
|
||
</td>
|
||
<td>Nov 03, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>4</td>
|
||
<td>
|
||
|
||
CSS-BFX
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8442109022">ss8442109022</a>
|
||
|
||
</td>
|
||
<td>Nov 03, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</td>
|
||
<td>
|
||
|
||
CSS-BFX
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8442109023">ss8442109023</a>
|
||
|
||
</td>
|
||
<td>Nov 03, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>6</td>
|
||
<td>
|
||
|
||
CSS-BFX
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8442109024">ss8442109024</a>
|
||
|
||
</td>
|
||
<td>Nov 03, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000422502.1/">RCV000422502.1</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000440177.1/">RCV000440177.1</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001355295.1/">RCV001355295.1</a>
|
||
|
||
</td>
|
||
<td>Oct 14, 2022
|
||
(156)
|
||
</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
<div id="history" class="js-tabcontent">
|
||
<a data-width="640px" href="#history_tp"
|
||
ref="section=History&action=Click-on-Tooltip&label=history_tp"
|
||
data-section="History" data-ga-action="Click-on-Tooltip" data-ga-label="history_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="history_tp">
|
||
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).</p>
|
||
|
||
|
||
|
||
|
||
<div id="obs_present">
|
||
<span>Added to this RefSNP Cluster:</span>
|
||
|
||
|
||
<table id="obs_present_table" class="observation_table stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Submission IDs</th>
|
||
<th>Observation <a href="/variation/notation/">SPDI</a></th>
|
||
<th>Canonical <a href="/variation/notation/">SPDI</a></th>
|
||
<th>Source RSIDs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss8442109021
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.13:140453135:AC:CG
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:CG
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss8442109022
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.13:140453135:AC:CT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:CT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000440177.1,
|
||
|
||
ss275515236
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:CT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:CT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss8442109023
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.13:140453135:AC:TG
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:TG
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss8442109024
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.13:140453135:AC:TT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:TT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000422502.1,
|
||
|
||
RCV001355295.1,
|
||
|
||
ss275515045
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:TT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000007.14:140753335:AC:TT
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="publications" class="js-tabcontent">
|
||
<a data-width="640px" href="#publications_tp"
|
||
ref="section=Publications&action=Click-on-Tooltip&label=publications_tp"
|
||
data-section="Publications" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="publications_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="publications_tp">
|
||
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.</p>
|
||
|
||
|
||
<div class="sect_heading">
|
||
21
|
||
citations for rs121913227
|
||
</div>
|
||
<div id="publication">
|
||
<table id="publication_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>PMID</th>
|
||
<th class="fir_col">Title</th>
|
||
<th>Author</th>
|
||
<th>Year</th>
|
||
<th>Journal</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12068308"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12068308</a>
|
||
</td>
|
||
<td class="fir_col">Mutations of the BRAF gene in human cancer.</td>
|
||
<td>Davies H et al.</td>
|
||
<td>2002</td>
|
||
<td>Nature</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/14679157"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">14679157</a>
|
||
</td>
|
||
<td class="fir_col">Determinants of BRAF mutations in primary melanomas.</td>
|
||
<td>Maldonado JL et al.</td>
|
||
<td>2003</td>
|
||
<td>Journal of the National Cancer Institute</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20551065"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20551065</a>
|
||
</td>
|
||
<td class="fir_col">RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models.</td>
|
||
<td>Yang H et al.</td>
|
||
<td>2010</td>
|
||
<td>Cancer research</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20630094"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20630094</a>
|
||
</td>
|
||
<td class="fir_col">Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.</td>
|
||
<td>Rubinstein JC et al.</td>
|
||
<td>2010</td>
|
||
<td>Journal of translational medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20818844"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20818844</a>
|
||
</td>
|
||
<td class="fir_col">Inhibition of mutated, activated BRAF in metastatic melanoma.</td>
|
||
<td>Flaherty KT et al.</td>
|
||
<td>2010</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21639808"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21639808</a>
|
||
</td>
|
||
<td class="fir_col">Improved survival with vemurafenib in melanoma with BRAF V600E mutation.</td>
|
||
<td>Chapman PB et al.</td>
|
||
<td>2011</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22048237"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22048237</a>
|
||
</td>
|
||
<td class="fir_col">Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma.</td>
|
||
<td>Kirkwood JM et al.</td>
|
||
<td>2012</td>
|
||
<td>Clinical cancer research </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22356324"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22356324</a>
|
||
</td>
|
||
<td class="fir_col">Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.</td>
|
||
<td>Sosman JA et al.</td>
|
||
<td>2012</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22536370"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22536370</a>
|
||
</td>
|
||
<td class="fir_col">Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.</td>
|
||
<td>Lovly CM et al.</td>
|
||
<td>2012</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22608338"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22608338</a>
|
||
</td>
|
||
<td class="fir_col">Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.</td>
|
||
<td>Falchook GS et al.</td>
|
||
<td>2012</td>
|
||
<td>Lancet (London, England)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22663011"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22663011</a>
|
||
</td>
|
||
<td class="fir_col">Improved survival with MEK inhibition in BRAF-mutated melanoma.</td>
|
||
<td>Flaherty KT et al.</td>
|
||
<td>2012</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22735384"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22735384</a>
|
||
</td>
|
||
<td class="fir_col">Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.</td>
|
||
<td>Hauschild A et al.</td>
|
||
<td>2012</td>
|
||
<td>Lancet (London, England)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22805292"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22805292</a>
|
||
</td>
|
||
<td class="fir_col">Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.</td>
|
||
<td>Falchook GS et al.</td>
|
||
<td>2012</td>
|
||
<td>The Lancet. Oncology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22972589"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22972589</a>
|
||
</td>
|
||
<td class="fir_col">Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.</td>
|
||
<td>Patel SP et al.</td>
|
||
<td>2013</td>
|
||
<td>Cancer</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23020132"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23020132</a>
|
||
</td>
|
||
<td class="fir_col">Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.</td>
|
||
<td>Flaherty KT et al.</td>
|
||
<td>2012</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23237741"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23237741</a>
|
||
</td>
|
||
<td class="fir_col">BRAF inhibitor activity in V600R metastatic melanoma.</td>
|
||
<td>Klein O et al.</td>
|
||
<td>2013</td>
|
||
<td>European journal of cancer (Oxford, England </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23248257"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23248257</a>
|
||
</td>
|
||
<td class="fir_col">Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor.</td>
|
||
<td>Kim KB et al.</td>
|
||
<td>2013</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23317446"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23317446</a>
|
||
</td>
|
||
<td class="fir_col">Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.</td>
|
||
<td>Gentilcore G et al.</td>
|
||
<td>2013</td>
|
||
<td>BMC cancer</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23918947"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23918947</a>
|
||
</td>
|
||
<td class="fir_col">Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.</td>
|
||
<td>Ascierto PA et al.</td>
|
||
<td>2013</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25157968"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25157968</a>
|
||
</td>
|
||
<td class="fir_col">Prospective enterprise-level molecular genotyping of a cohort of cancer patients.</td>
|
||
<td>MacConaill LE et al.</td>
|
||
<td>2014</td>
|
||
<td>The Journal of molecular diagnostics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25656898"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25656898</a>
|
||
</td>
|
||
<td class="fir_col">Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors.</td>
|
||
<td>Dienstmann R et al.</td>
|
||
<td>2015</td>
|
||
<td>Cancer discovery</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
||
<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
|
||
href="/pubmed?term=12068308,14679157,20551065,20630094,20818844,21639808,22048237,22356324,22536370,22608338,22663011,22735384,22805292,22972589,23020132,23237741,23248257,23317446,23918947,25157968,25656898"
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</div>
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|
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<div id="flanks" class="js-tabcontent">
|
||
<a data-width="640px" href="#flanks_tp"
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ref="section=Flanks&action=Click-on-Tooltip&label=flanks_tp"
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data-section="Flanks" data-ga-action="Click-on-Tooltip"
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data-ga-label="flanks_tp" class="fa fa-question-circle align-right ncbiPopper">
|
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<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="flanks_tp">The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.</p>
|
||
|
||
<div id="flanks_container">
|
||
<div id="context_container">
|
||
<span class="sect_heading">
|
||
Genome context:
|
||
</span>
|
||
|
||
<select id="flank_context">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
seq_acc_ver="NC_000007.14" position="140753336:140753337"
|
||
assmacc="GCF_000001405.40" ref_allele="AC"
|
||
variant_type="mnp">
|
||
|
||
GRCh38.p14 ( NC_000007.14 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
seq_acc_ver="NC_000007.13" position="140453136:140453137"
|
||
assmacc="GCF_000001405.25" ref_allele="AC"
|
||
variant_type="mnp">
|
||
|
||
GRCh37.p13 ( NC_000007.13 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
seq_acc_ver="NG_007873.3" position="176428:176429"
|
||
assmacc="" ref_allele="AC"
|
||
variant_type="mnp">
|
||
|
||
NG_007873.3
|
||
|
||
</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
|
||
<span class="sect_heading">
|
||
Select flank length:
|
||
</span>
|
||
<select id="flank_length">
|
||
|
||
|
||
<option value="25"
|
||
selected="selected">
|
||
25 nt</option>
|
||
|
||
<option value="50"
|
||
>
|
||
50 nt</option>
|
||
|
||
<option value="100"
|
||
>
|
||
100 nt</option>
|
||
|
||
<option value="200"
|
||
>
|
||
200 nt</option>
|
||
|
||
|
||
</select>
|
||
<button id="retrieve_flank" class="usa-button-outline" type="button">Retrieve</button>
|
||
<div id="flanking_sequence">
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
<div class="usa-row">
|
||
<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
|
||
<div>
|
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<span><a href="#top" ref="section=Sequence Viewer&action=Click-on&label=Top_link"
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data-section="Sequence Viewer" data-ga-action="Click-on"
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data-ga-label="Top_link">Top</a></span><span>▲</span>
|
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<a data-width="640px" href="#sequence_viewer_tp"
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ref="section=Sequence Viewer&action=Click-on-Tooltip&label=sequence_viewer_tp"
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data-section="Sequence Viewer" data-ga-action="Click-on-Tooltip"
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data-ga-label="sequence_viewer_tp" class="fa fa-question-circle align-right ncbiPopper">
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<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="sequence_viewer_tp">
|
||
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).<br/>
|
||
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.<br/>
|
||
Visit <a class="external-link" href="/tools/sviewer/" target="_blank">Sequence Viewer</a> for help with navigating inside the display and modifying the selection of displayed data tracks.</p>
|
||
|
||
</div>
|
||
</h3>
|
||
<div id="sequence">
|
||
|
||
<div id="seq_div" class="usa-width-one-whole">
|
||
<label for="seq_sel">Choose placement</label>
|
||
<select id="seq_sel">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
data-svparams="id=NC_000007.14&assm_context=GCF_000001405.40&v=140753285.5:140753386.5&mk=140753336:140753337|rs121913227!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="121913227">
|
||
|
||
GRCh38.p14 ( NC_000007.14 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
data-svparams="id=NC_000007.13&assm_context=GCF_000001405.25&v=140453085.5:140453186.5&mk=140453136:140453137|rs121913227!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="121913227">
|
||
|
||
GRCh37.p13 ( NC_000007.13 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
data-svparams="id=NG_007873.3&assm_context=&v=176377.5:176478.5&mk=176428:176429|rs121913227!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="121913227">
|
||
|
||
NG_007873.3
|
||
|
||
</option>
|
||
|
||
</select>
|
||
<div class="align-right">
|
||
<a href="#"
|
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ref="section=Sequence Viewer&action=Click-on&label=See_rs_in_Variation_Viewer_link"
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data-section="Sequence Viewer" data-ga-action="Click-on"
|
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data-ga-label="See_rs_in_Variation_Viewer_link">
|
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<button title="see rs121913227 and neighboring variants in Variation Viewer"
|
||
class="usa-button-outline" id="variation_viewer_btn" type="button">See rs121913227
|
||
in Variation Viewer
|
||
</button>
|
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</a>
|
||
</div>
|
||
</div>
|
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<div class="usa-width-one-whole">
|
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<div id="sv1" class="SeqViewerApp align-right">
|
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|
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<a href="?embedded=true&app_context=Variation_Viewer_2-1&id=NC_000007.14"
|
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aria-hidden="true"></a>
|
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</div>
|
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</div>
|
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|
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</div>
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