Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.186618497T>CCA2668958917AHSGc.574-39T>C (n.574-39T>C)
c.577-39T>C (n.577-39T>C)
c.571-39T>C (n.571-39T>C)
 gnomAD v4
3g.186618498C>ACA2668958918AHSGc.574-38C>A (n.574-38C>A)
c.577-38C>A (n.577-38C>A)
c.571-38C>A (n.571-38C>A)
 gnomAD v4
3g.186618499A>GCA2668958919AHSGc.574-37A>G (n.574-37A>G)
c.577-37A>G (n.577-37A>G)
c.571-37A>G (n.571-37A>G)
 gnomAD v4
3g.186618500T>ACA2668958920AHSGc.574-36T>A (n.574-36T>A)
c.577-36T>A (n.577-36T>A)
c.571-36T>A (n.571-36T>A)
 gnomAD v4
3g.186618503T>GCA1427018685AHSGc.574-33T>G (n.574-33T>G)
c.577-33T>G (n.577-33T>G)
c.571-33T>G (n.571-33T>G)
 dbSNP
3g.186618503T=CA1427018684AHSGc.574-33T= (n.574-33T=)
c.577-33T= (n.577-33T=)
c.571-33T= (n.571-33T=)
3g.186618504T>GCA2578016388AHSGc.574-32T>G (n.574-32T>G)
c.577-32T>G (n.577-32T>G)
c.571-32T>G (n.571-32T>G)
 gnomAD v4
3g.186618505C>ACA2759779312AHSGc.574-31C>A (n.574-31C>A)
c.577-31C>A (n.577-31C>A)
c.571-31C>A (n.571-31C>A)
3g.186618509A=CA1427018686AHSGc.574-27A= (n.574-27A=)
c.577-27A= (n.577-27A=)
c.571-27A= (n.571-27A=)
3g.186618509A>GCA1427018687AHSGc.574-27A>G (n.574-27A>G)
c.577-27A>G (n.577-27A>G)
c.571-27A>G (n.571-27A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.186618510A>GCA2759779313AHSGc.574-26A>G (n.574-26A>G)
c.577-26A>G (n.577-26A>G)
c.571-26A>G (n.571-26A>G)
3g.186618511G>CCA2506134703AHSGc.574-25G>C (n.574-25G>C)
c.577-25G>C (n.577-25G>C)
c.571-25G>C (n.571-25G>C)
 gnomAD v4
3g.186618512A=CA1427018688AHSGc.574-24A= (n.574-24A=)
c.577-24A= (n.577-24A=)
c.571-24A= (n.571-24A=)
3g.186618512A>CCA2744951AHSGc.574-24A>C (n.574-24A>C)
c.577-24A>C (n.577-24A>C)
c.571-24A>C (n.571-24A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618512A>TCA2759779314AHSGc.574-24A>T (n.574-24A>T)
c.577-24A>T (n.577-24A>T)
c.571-24A>T (n.571-24A>T)
3g.186618513G>ACA2578016389AHSGc.574-23G>A (n.574-23G>A)
c.577-23G>A (n.577-23G>A)
c.571-23G>A (n.571-23G>A)
3g.186618514C=CA1427018689AHSGc.574-22C= (n.574-22C=)
c.577-22C= (n.577-22C=)
c.571-22C= (n.571-22C=)
3g.186618514C>GCA548454618AHSGc.574-22C>G (n.574-22C>G)
c.577-22C>G (n.577-22C>G)
c.571-22C>G (n.571-22C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618514C>TCA548454619AHSGc.574-22C>T (n.574-22C>T)
c.577-22C>T (n.577-22C>T)
c.571-22C>T (n.571-22C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.186618515A=CA1427018690AHSGc.574-21A= (n.574-21A=)
c.577-21A= (n.577-21A=)
c.571-21A= (n.571-21A=)
3g.186618515A>TCA548454620AHSGc.574-21A>T (n.574-21A>T)
c.577-21A>T (n.577-21A>T)
c.571-21A>T (n.571-21A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618519delCA2668958930AHSGc.574-17del (n.574-17del)
c.577-17del (n.577-17del)
c.571-17del (n.571-17del)
 gnomAD v4
3g.186618519T>GCA548454622AHSGc.574-17T>G (n.574-17T>G)
c.577-17T>G (n.577-17T>G)
c.571-17T>G (n.571-17T>G)
 dbSNP gnomAD v2 gnomAD v4
3g.186618519T=CA1427018691AHSGc.574-17T= (n.574-17T=)
c.577-17T= (n.577-17T=)
c.571-17T= (n.571-17T=)
3g.186618520C=CA1427018692AHSGc.574-16C= (n.574-16C=)
c.577-16C= (n.577-16C=)
c.571-16C= (n.571-16C=)
3g.186618520C>GCA1427018693AHSGc.574-16C>G (n.574-16C>G)
c.577-16C>G (n.577-16C>G)
c.571-16C>G (n.571-16C>G)
 dbSNP
3g.186618521A>TCA2668958935AHSGc.574-15A>T (n.574-15A>T)
c.577-15A>T (n.577-15A>T)
c.571-15A>T (n.571-15A>T)
 gnomAD v4
3g.186618522T>GCA2744952AHSGc.574-14T>G (n.574-14T>G)
c.577-14T>G (n.577-14T>G)
c.571-14T>G (n.571-14T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618522T=CA1427018694AHSGc.574-14T= (n.574-14T=)
c.577-14T= (n.577-14T=)
c.571-14T= (n.571-14T=)
3g.186618523G>ACA2668958939AHSGc.574-13G>A (n.574-13G>A)
c.577-13G>A (n.577-13G>A)
c.571-13G>A (n.571-13G>A)
 gnomAD v4
3g.186618525A=CA1427018695AHSGc.574-11A= (n.574-11A=)
c.577-11A= (n.577-11A=)
c.571-11A= (n.571-11A=)
3g.186618525A>GCA2744953AHSGc.574-11A>G (n.574-11A>G)
c.577-11A>G (n.577-11A>G)
c.571-11A>G (n.571-11A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618525A>TCA2744954AHSGc.574-11A>T (n.574-11A>T)
c.577-11A>T (n.577-11A>T)
c.571-11A>T (n.571-11A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618527T>ACA2578016390AHSGc.574-9T>A (n.574-9T>A)
c.577-9T>A (n.577-9T>A)
c.571-9T>A (n.571-9T>A)
3g.186618527T>CCA2668958946AHSGc.574-9T>C (n.574-9T>C)
c.577-9T>C (n.577-9T>C)
c.571-9T>C (n.571-9T>C)
 gnomAD v4
3g.186618528C>TCA2668958948AHSGc.574-8C>T (n.574-8C>T)
c.577-8C>T (n.577-8C>T)
c.571-8C>T (n.571-8C>T)
 gnomAD v4
3g.186618529T>GCA903919291AHSGc.574-7T>G (n.574-7T>G)
c.577-7T>G (n.577-7T>G)
c.571-7T>G (n.571-7T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.186618529T=CA1427018696AHSGc.574-7T= (n.574-7T=)
c.577-7T= (n.577-7T=)
c.571-7T= (n.571-7T=)
3g.186618531C>ACA2668958951AHSGc.574-5C>A (n.574-5C>A)
c.577-5C>A (n.577-5C>A)
c.571-5C>A (n.571-5C>A)
 gnomAD v4
3g.186618533C>ACA2668958952AHSGc.574-3C>A (n.574-3C>A)
c.577-3C>A (n.577-3C>A)
c.571-3C>A (n.571-3C>A)
 gnomAD v4
3g.186618534A>CCA355714419AHSGc.574-2A>C (n.574-2A>C)
c.577-2A>C (n.577-2A>C)
c.571-2A>C (n.571-2A>C)
3g.186618534A>GCA355714420AHSGc.574-2A>G (n.574-2A>G)
c.577-2A>G (n.577-2A>G)
c.571-2A>G (n.571-2A>G)
3g.186618534A>TCA355714421AHSGc.574-2A>T (n.574-2A>T)
c.577-2A>T (n.577-2A>T)
c.571-2A>T (n.571-2A>T)
3g.186618535G>ACA355714422AHSGc.574-1G>A (n.574-1G>A)
c.577-1G>A (n.577-1G>A)
c.571-1G>A (n.571-1G>A)
3g.186618535G>CCA355714423AHSGc.574-1G>C (n.574-1G>C)
c.577-1G>C (n.577-1G>C)
c.571-1G>C (n.571-1G>C)
3g.186618535G>TCA355714424AHSGc.574-1G>T (n.574-1G>T)
c.577-1G>T (n.577-1G>T)
c.571-1G>T (n.571-1G>T)
3g.186618536C>ACA355714427AHSGc.574C>A (p.Pro192Thr)
c.577C>A (p.Pro193Thr)
c.571C>A (p.Pro191Thr)
3g.186618536C=CA1427018697AHSGc.574C= (p.Pro192=)
c.577C= (p.Pro193=)
c.571C= (p.Pro191=)
3g.186618536C>GCA355714426AHSGc.574C>G (p.Pro192Ala)
c.577C>G (p.Pro193Ala)
c.571C>G (p.Pro191Ala)
 dbSNP
3g.186618536C>TCA355714425AHSGc.574C>T (p.Pro192Ser)
c.577C>T (p.Pro193Ser)
c.571C>T (p.Pro191Ser)
3g.186618537C>ACA355714428AHSGc.575C>A (p.Pro192His)
c.578C>A (p.Pro193His)
c.572C>A (p.Pro191His)
 gnomAD v4
3g.186618537C>GCA355714429AHSGc.575C>G (p.Pro192Arg)
c.578C>G (p.Pro193Arg)
c.572C>G (p.Pro191Arg)
3g.186618537C>TCA355714430AHSGc.575C>T (p.Pro192Leu)
c.578C>T (p.Pro193Leu)
c.572C>T (p.Pro191Leu)
3g.186618538C>ACA437357838AHSGc.576C>A (p.Pro192=)
c.579C>A (p.Pro193=)
c.573C>A (p.Pro191=)
3g.186618538C=CA1427018698AHSGc.576C= (p.Pro192=)
c.579C= (p.Pro193=)
c.573C= (p.Pro191=)
3g.186618538C>GCA437357839AHSGc.576C>G (p.Pro192=)
c.579C>G (p.Pro193=)
c.573C>G (p.Pro191=)
3g.186618538C>TCA437357840AHSGc.576C>T (p.Pro192=)
c.579C>T (p.Pro193=)
c.573C>T (p.Pro191=)
 dbSNP gnomAD v2
3g.186618539C>ACA355714431AHSGc.577C>A (p.Leu193Ile)
c.580C>A (p.Leu194Ile)
c.574C>A (p.Leu192Ile)
3g.186618539C=CA1427018699AHSGc.577C= (p.Leu193=)
c.580C= (p.Leu194=)
c.574C= (p.Leu192=)
3g.186618539C>GCA355714432AHSGc.577C>G (p.Leu193Val)
c.580C>G (p.Leu194Val)
c.574C>G (p.Leu192Val)
3g.186618539C>TCA2744955AHSGc.577C>T (p.Leu193Phe)
c.580C>T (p.Leu194Phe)
c.574C>T (p.Leu192Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618540T>ACA355714433AHSGc.578T>A (p.Leu193His)
c.581T>A (p.Leu194His)
c.575T>A (p.Leu192His)
3g.186618540T>CCA355714434AHSGc.578T>C (p.Leu193Pro)
c.581T>C (p.Leu194Pro)
c.575T>C (p.Leu192Pro)
3g.186618540T>GCA355714435AHSGc.578T>G (p.Leu193Arg)
c.581T>G (p.Leu194Arg)
c.575T>G (p.Leu192Arg)
3g.186618541C>ACA437357841AHSGc.579C>A (p.Leu193=)
c.582C>A (p.Leu194=)
c.576C>A (p.Leu192=)
3g.186618541C>GCA437357842AHSGc.579C>G (p.Leu193=)
c.582C>G (p.Leu194=)
c.576C>G (p.Leu192=)
3g.186618541C>TCA437357843AHSGc.579C>T (p.Leu193=)
c.582C>T (p.Leu194=)
c.576C>T (p.Leu192=)
3g.186618542C>ACA355714436AHSGc.580C>A (p.Pro194Thr)
c.583C>A (p.Pro195Thr)
c.577C>A (p.Pro193Thr)
3g.186618542C>GCA355714437AHSGc.580C>G (p.Pro194Ala)
c.583C>G (p.Pro195Ala)
c.577C>G (p.Pro193Ala)
3g.186618542C>TCA355714438AHSGc.580C>T (p.Pro194Ser)
c.583C>T (p.Pro195Ser)
c.577C>T (p.Pro193Ser)
 gnomAD v4
3g.186618543C>ACA355714440AHSGc.581C>A (p.Pro194Gln)
c.584C>A (p.Pro195Gln)
c.578C>A (p.Pro193Gln)
3g.186618543C>GCA355714441AHSGc.581C>G (p.Pro194Arg)
c.584C>G (p.Pro195Arg)
c.578C>G (p.Pro193Arg)
3g.186618543C>TCA355714439AHSGc.581C>T (p.Pro194Leu)
c.584C>T (p.Pro195Leu)
c.578C>T (p.Pro193Leu)
3g.186618544A>CCA437357844AHSGc.582A>C (p.Pro194=)
c.585A>C (p.Pro195=)
c.579A>C (p.Pro193=)
3g.186618544A>GCA437357845AHSGc.582A>G (p.Pro194=)
c.585A>G (p.Pro195=)
c.579A>G (p.Pro193=)
 gnomAD v4
3g.186618544A>TCA437357846AHSGc.582A>T (p.Pro194=)
c.585A>T (p.Pro195=)
c.579A>T (p.Pro193=)
3g.186618545C>ACA355714442AHSGc.583C>A (p.Pro195Thr)
c.586C>A (p.Pro196Thr)
c.580C>A (p.Pro194Thr)
3g.186618545C>GCA355714443AHSGc.583C>G (p.Pro195Ala)
c.586C>G (p.Pro196Ala)
c.580C>G (p.Pro194Ala)
3g.186618545C>TCA355714444AHSGc.583C>T (p.Pro195Ser)
c.586C>T (p.Pro196Ser)
c.580C>T (p.Pro194Ser)
3g.186618546C>ACA89626602AHSGc.584C>A (p.Pro195His)
c.587C>A (p.Pro196His)
c.581C>A (p.Pro194His)
 dbSNP
3g.186618546C=CA1427018700AHSGc.584C= (p.Pro195=)
c.587C= (p.Pro196=)
c.581C= (p.Pro194=)
3g.186618546C>GCA355714445AHSGc.584C>G (p.Pro195Arg)
c.587C>G (p.Pro196Arg)
c.581C>G (p.Pro194Arg)
 gnomAD v4
3g.186618546C>TCA355714446AHSGc.584C>T (p.Pro195Leu)
c.587C>T (p.Pro196Leu)
c.581C>T (p.Pro194Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618548_186618550delCA2668958967AHSGc.586_588del (p.Ser196del)
c.589_591del (p.Ser197del)
c.583_585del (p.Ser195del)
 gnomAD v4
3g.186618547T>ACA437357848AHSGc.585T>A (p.Pro195=)
c.588T>A (p.Pro196=)
c.582T>A (p.Pro194=)
3g.186618547T>CCA89626608AHSGc.585T>C (p.Pro195=)
c.588T>C (p.Pro196=)
c.582T>C (p.Pro194=)
 dbSNP
3g.186618547T>GCA437357847AHSGc.585T>G (p.Pro195=)
c.588T>G (p.Pro196=)
c.582T>G (p.Pro194=)
3g.186618547T=CA1427018701AHSGc.585T= (p.Pro195=)
c.588T= (p.Pro196=)
c.582T= (p.Pro194=)
3g.186618548T>ACA355714447AHSGc.586T>A (p.Ser196Thr)
c.589T>A (p.Ser197Thr)
c.583T>A (p.Ser195Thr)
3g.186618548T>CCA355714449AHSGc.586T>C (p.Ser196Pro)
c.589T>C (p.Ser197Pro)
c.583T>C (p.Ser195Pro)
3g.186618548T>GCA355714448AHSGc.586T>G (p.Ser196Ala)
c.589T>G (p.Ser197Ala)
c.583T>G (p.Ser195Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.186618548T=CA1427018702AHSGc.586T= (p.Ser196=)
c.589T= (p.Ser197=)
c.583T= (p.Ser195=)
3g.186618549C>ACA355714450AHSGc.587C>A (p.Ser196Tyr)
c.590C>A (p.Ser197Tyr)
c.584C>A (p.Ser195Tyr)
3g.186618549C=CA1427018703AHSGc.587C= (p.Ser196=)
c.590C= (p.Ser197=)
c.584C= (p.Ser195=)
3g.186618549C>GCA355714451AHSGc.587C>G (p.Ser196Cys)
c.590C>G (p.Ser197Cys)
c.584C>G (p.Ser195Cys)
 gnomAD v4
3g.186618549C>TCA89626613AHSGc.587C>T (p.Ser196Phe)
c.590C>T (p.Ser197Phe)
c.584C>T (p.Ser195Phe)
 dbSNP
3g.186618550T>ACA437357849AHSGc.588T>A (p.Ser196=)
c.591T>A (p.Ser197=)
c.585T>A (p.Ser195=)
3g.186618550T>CCA2744956AHSGc.588T>C (p.Ser196=)
c.591T>C (p.Ser197=)
c.585T>C (p.Ser195=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618550T>GCA437357850AHSGc.588T>G (p.Ser196=)
c.591T>G (p.Ser197=)
c.585T>G (p.Ser195=)
3g.186618550T=CA1427018704AHSGc.588T= (p.Ser196=)
c.591T= (p.Ser197=)
c.585T= (p.Ser195=)
3g.186618551A>CCA355714454AHSGc.589A>C (p.Thr197Pro)
c.592A>C (p.Thr198Pro)
c.586A>C (p.Thr196Pro)
3g.186618551A>GCA355714453AHSGc.589A>G (p.Thr197Ala)
c.592A>G (p.Thr198Ala)
c.586A>G (p.Thr196Ala)
3g.186618551A>TCA355714452AHSGc.589A>T (p.Thr197Ser)
c.592A>T (p.Thr198Ser)
c.586A>T (p.Thr196Ser)
3g.186618552C>ACA355714455AHSGc.590C>A (p.Thr197Asn)
c.593C>A (p.Thr198Asn)
c.587C>A (p.Thr196Asn)
3g.186618552C=CA1427018705AHSGc.590C= (p.Thr197=)
c.593C= (p.Thr198=)
c.587C= (p.Thr196=)
3g.186618552C>GCA355714457AHSGc.590C>G (p.Thr197Ser)
c.593C>G (p.Thr198Ser)
c.587C>G (p.Thr196Ser)
 dbSNP
3g.186618552C>TCA355714456AHSGc.590C>T (p.Thr197Ile)
c.593C>T (p.Thr198Ile)
c.587C>T (p.Thr196Ile)
3g.186618553C>ACA437357851AHSGc.591C>A (p.Thr197=)
c.594C>A (p.Thr198=)
c.588C>A (p.Thr196=)
3g.186618553C=CA1427018706AHSGc.591C= (p.Thr197=)
c.594C= (p.Thr198=)
c.588C= (p.Thr196=)
3g.186618553C>GCA437357852AHSGc.591C>G (p.Thr197=)
c.594C>G (p.Thr198=)
c.588C>G (p.Thr196=)
 dbSNP gnomAD v4
3g.186618553C>TCA2744957AHSGc.591C>T (p.Thr197=)
c.594C>T (p.Thr198=)
c.588C>T (p.Thr196=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618554T>ACA355714459AHSGc.592T>A (p.Tyr198Asn)
c.595T>A (p.Tyr199Asn)
c.589T>A (p.Tyr197Asn)
3g.186618554T>CCA2744958AHSGc.592T>C (p.Tyr198His)
c.595T>C (p.Tyr199His)
c.589T>C (p.Tyr197His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618554T>GCA355714458AHSGc.592T>G (p.Tyr198Asp)
c.595T>G (p.Tyr199Asp)
c.589T>G (p.Tyr197Asp)
3g.186618554T=CA1427018707AHSGc.592T= (p.Tyr198=)
c.595T= (p.Tyr199=)
c.589T= (p.Tyr197=)
3g.186618555A=CA1427018708AHSGc.593A= (p.Tyr198=)
c.596A= (p.Tyr199=)
c.590A= (p.Tyr197=)
3g.186618555A>CCA2744960AHSGc.593A>C (p.Tyr198Ser)
c.596A>C (p.Tyr199Ser)
c.590A>C (p.Tyr197Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618555A>GCA2744959AHSGc.593A>G (p.Tyr198Cys)
c.596A>G (p.Tyr199Cys)
c.590A>G (p.Tyr197Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618555A>TCA355714460AHSGc.593A>T (p.Tyr198Phe)
c.596A>T (p.Tyr199Phe)
c.590A>T (p.Tyr197Phe)
3g.186618556T>ACA355714461AHSGc.594T>A (p.Tyr198Ter)
c.597T>A (p.Tyr199Ter)
c.591T>A (p.Tyr197Ter)
3g.186618556T>CCA437357853AHSGc.594T>C (p.Tyr198=)
c.597T>C (p.Tyr199=)
c.591T>C (p.Tyr197=)
3g.186618556T>GCA355714462AHSGc.594T>G (p.Tyr198Ter)
c.597T>G (p.Tyr199Ter)
c.591T>G (p.Tyr197Ter)
 COSMIC
3g.186618557G>ACA355714463AHSGc.595G>A (p.Val199Met)
c.598G>A (p.Val200Met)
c.592G>A (p.Val198Met)
3g.186618557G>CCA2744961AHSGc.595G>C (p.Val199Leu)
c.598G>C (p.Val200Leu)
c.592G>C (p.Val198Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618557G=CA1427018709AHSGc.595G= (p.Val199=)
c.598G= (p.Val200=)
c.592G= (p.Val198=)
3g.186618557G>TCA355714464AHSGc.595G>T (p.Val199Leu)
c.598G>T (p.Val200Leu)
c.592G>T (p.Val198Leu)
3g.186618558T>ACA355714465AHSGc.596T>A (p.Val199Glu)
c.599T>A (p.Val200Glu)
c.593T>A (p.Val198Glu)
3g.186618558T>CCA355714466AHSGc.596T>C (p.Val199Ala)
c.599T>C (p.Val200Ala)
c.593T>C (p.Val198Ala)
3g.186618558T>GCA355714467AHSGc.596T>G (p.Val199Gly)
c.599T>G (p.Val200Gly)
c.593T>G (p.Val198Gly)
3g.186618559G>ACA437357854AHSGc.597G>A (p.Val199=)
c.600G>A (p.Val200=)
c.594G>A (p.Val198=)
3g.186618559G>CCA437357855AHSGc.597G>C (p.Val199=)
c.600G>C (p.Val200=)
c.594G>C (p.Val198=)
3g.186618559G>TCA437357856AHSGc.597G>T (p.Val199=)
c.600G>T (p.Val200=)
c.594G>T (p.Val198=)
3g.186618560_186618562delCA2668958986AHSGc.598_600del (p.Glu200del)
c.601_603del (p.Glu201del)
c.595_597del (p.Glu199del)
 gnomAD v4
3g.186618560G>ACA355714468AHSGc.598G>A (p.Glu200Lys)
c.601G>A (p.Glu201Lys)
c.595G>A (p.Glu199Lys)
 gnomAD v3 gnomAD v4 COSMIC
3g.186618560G>CCA355714470AHSGc.598G>C (p.Glu200Gln)
c.601G>C (p.Glu201Gln)
c.595G>C (p.Glu199Gln)
3g.186618560G>TCA355714469AHSGc.598G>T (p.Glu200Ter)
c.601G>T (p.Glu201Ter)
c.595G>T (p.Glu199Ter)
3g.186618561A>CCA355714471AHSGc.599A>C (p.Glu200Ala)
c.602A>C (p.Glu201Ala)
c.596A>C (p.Glu199Ala)
 dbSNP
3g.186618561A>GCA355714472AHSGc.599A>G (p.Glu200Gly)
c.602A>G (p.Glu201Gly)
c.596A>G (p.Glu199Gly)
3g.186618561A>TCA355714473AHSGc.599A>T (p.Glu200Val)
c.602A>T (p.Glu201Val)
c.596A>T (p.Glu199Val)
3g.186618562G>ACA437357857AHSGc.600G>A (p.Glu200=)
c.603G>A (p.Glu201=)
c.597G>A (p.Glu199=)
 gnomAD v4
3g.186618562G>CCA355714474AHSGc.600G>C (p.Glu200Asp)
c.603G>C (p.Glu201Asp)
c.597G>C (p.Glu199Asp)
 COSMIC
3g.186618562G>TCA355714475AHSGc.600G>T (p.Glu200Asp)
c.603G>T (p.Glu201Asp)
c.597G>T (p.Glu199Asp)
3g.186618563T>ACA355714476AHSGc.601T>A (p.Phe201Ile)
c.604T>A (p.Phe202Ile)
c.598T>A (p.Phe200Ile)
3g.186618563T>CCA355714477AHSGc.601T>C (p.Phe201Leu)
c.604T>C (p.Phe202Leu)
c.598T>C (p.Phe200Leu)
3g.186618563T>GCA355714478AHSGc.601T>G (p.Phe201Val)
c.604T>G (p.Phe202Val)
c.598T>G (p.Phe200Val)
3g.186618564T>ACA355714479AHSGc.602T>A (p.Phe201Tyr)
c.605T>A (p.Phe202Tyr)
c.599T>A (p.Phe200Tyr)
3g.186618564T>CCA355714480AHSGc.602T>C (p.Phe201Ser)
c.605T>C (p.Phe202Ser)
c.599T>C (p.Phe200Ser)
3g.186618564T>GCA355714481AHSGc.602T>G (p.Phe201Cys)
c.605T>G (p.Phe202Cys)
c.599T>G (p.Phe200Cys)
3g.186618565T>ACA355714482AHSGc.603T>A (p.Phe201Leu)
c.606T>A (p.Phe202Leu)
c.600T>A (p.Phe200Leu)
3g.186618565T>CCA437357858AHSGc.603T>C (p.Phe201=)
c.606T>C (p.Phe202=)
c.600T>C (p.Phe200=)
 dbSNP gnomAD v2 gnomAD v4
3g.186618565T>GCA355714483AHSGc.603T>G (p.Phe201Leu)
c.606T>G (p.Phe202Leu)
c.600T>G (p.Phe200Leu)
3g.186618565T=CA1427018710AHSGc.603T= (p.Phe201=)
c.606T= (p.Phe202=)
c.600T= (p.Phe200=)
3g.186618566A=CA1427018711AHSGc.604A= (p.Thr202=)
c.607A= (p.Thr203=)
c.601A= (p.Thr201=)
3g.186618566A>CCA355714484AHSGc.604A>C (p.Thr202Pro)
c.607A>C (p.Thr203Pro)
c.601A>C (p.Thr201Pro)
3g.186618566A>GCA89626665AHSGc.604A>G (p.Thr202Ala)
c.607A>G (p.Thr203Ala)
c.601A>G (p.Thr201Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.186618566A>TCA355714485AHSGc.604A>T (p.Thr202Ser)
c.607A>T (p.Thr203Ser)
c.601A>T (p.Thr201Ser)
3g.186618567C>ACA355714486AHSGc.605C>A (p.Thr202Lys)
c.608C>A (p.Thr203Lys)
c.602C>A (p.Thr201Lys)
3g.186618567C=CA1427018712AHSGc.605C= (p.Thr202=)
c.608C= (p.Thr203=)
c.602C= (p.Thr201=)
3g.186618567C>GCA355714487AHSGc.605C>G (p.Thr202Arg)
c.608C>G (p.Thr203Arg)
c.602C>G (p.Thr201Arg)
3g.186618567C>TCA355714488AHSGc.605C>T (p.Thr202Ile)
c.608C>T (p.Thr203Ile)
c.602C>T (p.Thr201Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.186618568A=CA1427018713AHSGc.606A= (p.Thr202=)
c.609A= (p.Thr203=)
c.603A= (p.Thr201=)
3g.186618568A>CCA437357861AHSGc.606A>C (p.Thr202=)
c.609A>C (p.Thr203=)
c.603A>C (p.Thr201=)
3g.186618568A>GCA437357859AHSGc.606A>G (p.Thr202=)
c.609A>G (p.Thr203=)
c.603A>G (p.Thr201=)
 dbSNP gnomAD v4
3g.186618568A>TCA437357860AHSGc.606A>T (p.Thr202=)
c.609A>T (p.Thr203=)
c.603A>T (p.Thr201=)
3g.186618569G>ACA355714489AHSGc.607G>A (p.Val203Met)
c.610G>A (p.Val204Met)
c.604G>A (p.Val202Met)
3g.186618569G>CCA355714490AHSGc.607G>C (p.Val203Leu)
c.610G>C (p.Val204Leu)
c.604G>C (p.Val202Leu)
3g.186618569G>TCA355714491AHSGc.607G>T (p.Val203Leu)
c.610G>T (p.Val204Leu)
c.604G>T (p.Val202Leu)
3g.186618570T>ACA355714492AHSGc.608T>A (p.Val203Glu)
c.611T>A (p.Val204Glu)
c.605T>A (p.Val202Glu)
3g.186618570T>CCA355714493AHSGc.608T>C (p.Val203Ala)
c.611T>C (p.Val204Ala)
c.605T>C (p.Val202Ala)
 gnomAD v4
3g.186618570T>GCA355714494AHSGc.608T>G (p.Val203Gly)
c.611T>G (p.Val204Gly)
c.605T>G (p.Val202Gly)
3g.186618571G>ACA437357862AHSGc.609G>A (p.Val203=)
c.612G>A (p.Val204=)
c.606G>A (p.Val202=)
 gnomAD v4
3g.186618571G>CCA437357863AHSGc.609G>C (p.Val203=)
c.612G>C (p.Val204=)
c.606G>C (p.Val202=)
3g.186618571G>TCA437357864AHSGc.609G>T (p.Val203=)
c.612G>T (p.Val204=)
c.606G>T (p.Val202=)
3g.186618572T>ACA355714497AHSGc.610T>A (p.Ser204Thr)
c.613T>A (p.Ser205Thr)
c.607T>A (p.Ser203Thr)
3g.186618572T>CCA355714496AHSGc.610T>C (p.Ser204Pro)
c.613T>C (p.Ser205Pro)
c.607T>C (p.Ser203Pro)
3g.186618572T>GCA355714495AHSGc.610T>G (p.Ser204Ala)
c.613T>G (p.Ser205Ala)
c.607T>G (p.Ser203Ala)
3g.186618573C>ACA355714498AHSGc.611C>A (p.Ser204Tyr)
c.614C>A (p.Ser205Tyr)
c.608C>A (p.Ser203Tyr)
3g.186618573C>GCA355714499AHSGc.611C>G (p.Ser204Cys)
c.614C>G (p.Ser205Cys)
c.608C>G (p.Ser203Cys)
 gnomAD v4
3g.186618573C>TCA355714500AHSGc.611C>T (p.Ser204Phe)
c.614C>T (p.Ser205Phe)
c.608C>T (p.Ser203Phe)
3g.186618574T>ACA437357866AHSGc.612T>A (p.Ser204=)
c.615T>A (p.Ser205=)
c.609T>A (p.Ser203=)
3g.186618574T>CCA437357865AHSGc.612T>C (p.Ser204=)
c.615T>C (p.Ser205=)
c.609T>C (p.Ser203=)
 gnomAD v4
3g.186618574T>GCA437357867AHSGc.612T>G (p.Ser204=)
c.615T>G (p.Ser205=)
c.609T>G (p.Ser203=)
3g.186618575G>ACA355714501AHSGc.613G>A (p.Gly205Ser)
c.616G>A (p.Gly206Ser)
c.610G>A (p.Gly204Ser)
3g.186618575G>CCA355714502AHSGc.613G>C (p.Gly205Arg)
c.616G>C (p.Gly206Arg)
c.610G>C (p.Gly204Arg)
3g.186618575G>TCA355714503AHSGc.613G>T (p.Gly205Cys)
c.616G>T (p.Gly206Cys)
c.610G>T (p.Gly204Cys)
 gnomAD v4
3g.186618576G>ACA2744963AHSGc.614G>A (p.Gly205Asp)
c.617G>A (p.Gly206Asp)
c.611G>A (p.Gly204Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618576G>CCA355714504AHSGc.614G>C (p.Gly205Ala)
c.617G>C (p.Gly206Ala)
c.611G>C (p.Gly204Ala)
3g.186618576G=CA1427018714AHSGc.614G= (p.Gly205=)
c.617G= (p.Gly206=)
c.611G= (p.Gly204=)
3g.186618576G>TCA2744962AHSGc.614G>T (p.Gly205Val)
c.617G>T (p.Gly206Val)
c.611G>T (p.Gly204Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618577C>ACA437357869AHSGc.615C>A (p.Gly205=)
c.618C>A (p.Gly206=)
c.612C>A (p.Gly204=)
3g.186618577C>GCA437357870AHSGc.615C>G (p.Gly205=)
c.618C>G (p.Gly206=)
c.612C>G (p.Gly204=)
3g.186618577C>TCA437357871AHSGc.615C>T (p.Gly205=)
c.618C>T (p.Gly206=)
c.612C>T (p.Gly204=)
 gnomAD v4
3g.186618578A>CCA355714505AHSGc.616A>C (p.Thr206Pro)
c.619A>C (p.Thr207Pro)
c.613A>C (p.Thr205Pro)
3g.186618578A>GCA355714506AHSGc.616A>G (p.Thr206Ala)
c.619A>G (p.Thr207Ala)
c.613A>G (p.Thr205Ala)
3g.186618578A>TCA355714507AHSGc.616A>T (p.Thr206Ser)
c.619A>T (p.Thr207Ser)
c.613A>T (p.Thr205Ser)
3g.186618579C>ACA355714509AHSGc.617C>A (p.Thr206Asn)
c.620C>A (p.Thr207Asn)
c.614C>A (p.Thr205Asn)
3g.186618579C=CA1427018715AHSGc.617C= (p.Thr206=)
c.620C= (p.Thr207=)
c.614C= (p.Thr205=)
3g.186618579C>GCA355714508AHSGc.617C>G (p.Thr206Ser)
c.620C>G (p.Thr207Ser)
c.614C>G (p.Thr205Ser)
3g.186618579C>TCA2744964AHSGc.617C>T (p.Thr206Ile)
c.620C>T (p.Thr207Ile)
c.614C>T (p.Thr205Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618580T>ACA437357872AHSGc.618T>A (p.Thr206=)
c.621T>A (p.Thr207=)
c.615T>A (p.Thr205=)
3g.186618580T>CCA2744965AHSGc.618T>C (p.Thr206=)
c.621T>C (p.Thr207=)
c.615T>C (p.Thr205=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618580T>GCA437357873AHSGc.618T>G (p.Thr206=)
c.621T>G (p.Thr207=)
c.615T>G (p.Thr205=)
3g.186618580T=CA1427018716AHSGc.618T= (p.Thr206=)
c.621T= (p.Thr207=)
c.615T= (p.Thr205=)
3g.186618581G>ACA355714512AHSGc.619G>A (p.Asp207Asn)
c.622G>A (p.Asp208Asn)
c.616G>A (p.Asp206Asn)
 dbSNP gnomAD v3 gnomAD v4
3g.186618581G>CCA355714510AHSGc.619G>C (p.Asp207His)
c.622G>C (p.Asp208His)
c.616G>C (p.Asp206His)
3g.186618581G=CA1427018717AHSGc.619G= (p.Asp207=)
c.622G= (p.Asp208=)
c.616G= (p.Asp206=)
3g.186618581G>TCA355714511AHSGc.619G>T (p.Asp207Tyr)
c.622G>T (p.Asp208Tyr)
c.616G>T (p.Asp206Tyr)
 gnomAD v4
3g.186618582A>CCA355714513AHSGc.620A>C (p.Asp207Ala)
c.623A>C (p.Asp208Ala)
c.617A>C (p.Asp206Ala)
3g.186618582A>GCA355714514AHSGc.620A>G (p.Asp207Gly)
c.623A>G (p.Asp208Gly)
c.617A>G (p.Asp206Gly)
3g.186618582A>TCA355714515AHSGc.620A>T (p.Asp207Val)
c.623A>T (p.Asp208Val)
c.617A>T (p.Asp206Val)
3g.186618583C>ACA355714516AHSGc.621C>A (p.Asp207Glu)
c.624C>A (p.Asp208Glu)
c.618C>A (p.Asp206Glu)
3g.186618583C>GCA355714517AHSGc.621C>G (p.Asp207Glu)
c.624C>G (p.Asp208Glu)
c.618C>G (p.Asp206Glu)
3g.186618583C>TCA437357874AHSGc.621C>T (p.Asp207=)
c.624C>T (p.Asp208=)
c.618C>T (p.Asp206=)
3g.186618584T>ACA355714518AHSGc.622T>A (p.Cys208Ser)
c.625T>A (p.Cys209Ser)
c.619T>A (p.Cys207Ser)
3g.186618584T>CCA355714519AHSGc.622T>C (p.Cys208Arg)
c.625T>C (p.Cys209Arg)
c.619T>C (p.Cys207Arg)
3g.186618584T>GCA355714520AHSGc.622T>G (p.Cys208Gly)
c.625T>G (p.Cys209Gly)
c.619T>G (p.Cys207Gly)
3g.186618585G>ACA355714521AHSGc.623G>A (p.Cys208Tyr)
c.626G>A (p.Cys209Tyr)
c.620G>A (p.Cys207Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.186618585G>CCA355714522AHSGc.623G>C (p.Cys208Ser)
c.626G>C (p.Cys209Ser)
c.620G>C (p.Cys207Ser)
 gnomAD v4
3g.186618585G=CA1427018718AHSGc.623G= (p.Cys208=)
c.626G= (p.Cys209=)
c.620G= (p.Cys207=)
3g.186618585G>TCA355714523AHSGc.623G>T (p.Cys208Phe)
c.626G>T (p.Cys209Phe)
c.620G>T (p.Cys207Phe)
3g.186618586T>ACA355714525AHSGc.624T>A (p.Cys208Ter)
c.627T>A (p.Cys209Ter)
c.621T>A (p.Cys207Ter)
3g.186618586T>CCA437357879AHSGc.624T>C (p.Cys208=)
c.627T>C (p.Cys209=)
c.621T>C (p.Cys207=)
 gnomAD v4
3g.186618586T>GCA355714524AHSGc.624T>G (p.Cys208Trp)
c.627T>G (p.Cys209Trp)
c.621T>G (p.Cys207Trp)
3g.186618587G>ACA355714526AHSGc.625G>A (p.Val209Ile)
c.628G>A (p.Val210Ile)
c.622G>A (p.Val208Ile)
3g.186618587G>CCA355714527AHSGc.625G>C (p.Val209Leu)
c.628G>C (p.Val210Leu)
c.622G>C (p.Val208Leu)
3g.186618587G>TCA355714528AHSGc.625G>T (p.Val209Phe)
c.628G>T (p.Val210Phe)
c.622G>T (p.Val208Phe)
3g.186618588T>ACA355714529AHSGc.626T>A (p.Val209Asp)
c.629T>A (p.Val210Asp)
c.623T>A (p.Val208Asp)
3g.186618588T>CCA355714530AHSGc.626T>C (p.Val209Ala)
c.629T>C (p.Val210Ala)
c.623T>C (p.Val208Ala)
3g.186618588T>GCA355714531AHSGc.626T>G (p.Val209Gly)
c.629T>G (p.Val210Gly)
c.623T>G (p.Val208Gly)
3g.186618589T>ACA437357881AHSGc.627T>A (p.Val209=)
c.630T>A (p.Val210=)
c.624T>A (p.Val208=)
3g.186618589T>CCA437357882AHSGc.627T>C (p.Val209=)
c.630T>C (p.Val210=)
c.624T>C (p.Val208=)
3g.186618589T>GCA437357883AHSGc.627T>G (p.Val209=)
c.630T>G (p.Val210=)
c.624T>G (p.Val208=)
3g.186618590G>ACA355714532AHSGc.628G>A (p.Ala210Thr)
c.631G>A (p.Ala211Thr)
c.625G>A (p.Ala209Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.186618590G>CCA355714533AHSGc.628G>C (p.Ala210Pro)
c.631G>C (p.Ala211Pro)
c.625G>C (p.Ala209Pro)
3g.186618590G>TCA355714534AHSGc.628G>T (p.Ala210Ser)
c.631G>T (p.Ala211Ser)
c.625G>T (p.Ala209Ser)
3g.186618591C>ACA355714535AHSGc.629C>A (p.Ala210Asp)
c.632C>A (p.Ala211Asp)
c.626C>A (p.Ala209Asp)
3g.186618591C=CA1427018719AHSGc.629C= (p.Ala210=)
c.632C= (p.Ala211=)
c.626C= (p.Ala209=)
3g.186618591C>GCA355714536AHSGc.629C>G (p.Ala210Gly)
c.632C>G (p.Ala211Gly)
c.626C>G (p.Ala209Gly)
3g.186618591C>TCA355714537AHSGc.629C>T (p.Ala210Val)
c.632C>T (p.Ala211Val)
c.626C>T (p.Ala209Val)
 dbSNP gnomAD v2 gnomAD v4
3g.186618592T>ACA437357887AHSGc.630T>A (p.Ala210=)
c.633T>A (p.Ala211=)
c.627T>A (p.Ala209=)
3g.186618592T>CCA437357888AHSGc.630T>C (p.Ala210=)
c.633T>C (p.Ala211=)
c.627T>C (p.Ala209=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618592T>GCA437357889AHSGc.630T>G (p.Ala210=)
c.633T>G (p.Ala211=)
c.627T>G (p.Ala209=)
3g.186618592T=CA1427018720AHSGc.630T= (p.Ala210=)
c.633T= (p.Ala211=)
c.627T= (p.Ala209=)
3g.186618593A>CCA355714540AHSGc.631A>C (p.Lys211Gln)
c.634A>C (p.Lys212Gln)
c.628A>C (p.Lys210Gln)
3g.186618593A>GCA355714539AHSGc.631A>G (p.Lys211Glu)
c.634A>G (p.Lys212Glu)
c.628A>G (p.Lys210Glu)
 gnomAD v4
3g.186618593A>TCA355714538AHSGc.631A>T (p.Lys211Ter)
c.634A>T (p.Lys212Ter)
c.628A>T (p.Lys210Ter)
3g.186618594A=CA1427018721AHSGc.632A= (p.Lys211=)
c.635A= (p.Lys212=)
c.629A= (p.Lys210=)
3g.186618594A>CCA355714541AHSGc.632A>C (p.Lys211Thr)
c.635A>C (p.Lys212Thr)
c.629A>C (p.Lys210Thr)
3g.186618594A>GCA355714542AHSGc.632A>G (p.Lys211Arg)
c.635A>G (p.Lys212Arg)
c.629A>G (p.Lys210Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.186618594A>TCA355714543AHSGc.632A>T (p.Lys211Ile)
c.635A>T (p.Lys212Ile)
c.629A>T (p.Lys210Ile)
3g.186618595A>CCA355714544AHSGc.633A>C (p.Lys211Asn)
c.636A>C (p.Lys212Asn)
c.630A>C (p.Lys210Asn)
3g.186618595A>GCA437357896AHSGc.633A>G (p.Lys211=)
c.636A>G (p.Lys212=)
c.630A>G (p.Lys210=)
3g.186618595A>TCA355714545AHSGc.633A>T (p.Lys211Asn)
c.636A>T (p.Lys212Asn)
c.630A>T (p.Lys210Asn)
3g.186618596G>ACA355714546AHSGc.634G>A (p.Glu212Lys)
c.637G>A (p.Glu213Lys)
c.631G>A (p.Glu211Lys)
 gnomAD v4
3g.186618596G>CCA355714547AHSGc.634G>C (p.Glu212Gln)
c.637G>C (p.Glu213Gln)
c.631G>C (p.Glu211Gln)
3g.186618596G>TCA355714548AHSGc.634G>T (p.Glu212Ter)
c.637G>T (p.Glu213Ter)
c.631G>T (p.Glu211Ter)
3g.186618597A>CCA355714549AHSGc.635A>C (p.Glu212Ala)
c.638A>C (p.Glu213Ala)
c.632A>C (p.Glu211Ala)
3g.186618597A>GCA355714550AHSGc.635A>G (p.Glu212Gly)
c.638A>G (p.Glu213Gly)
c.632A>G (p.Glu211Gly)
3g.186618597A>TCA355714551AHSGc.635A>T (p.Glu212Val)
c.638A>T (p.Glu213Val)
c.632A>T (p.Glu211Val)

Number of alleles fetched