Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.186618548_186618550delCA2668958967AHSGc.586_588del (p.Ser196del)
c.589_591del (p.Ser197del)
c.583_585del (p.Ser195del)
 gnomAD v4
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)
3g.186618598G>ACA437357902AHSGc.636G>A (p.Glu212=)
c.639G>A (p.Glu213=)
c.633G>A (p.Glu211=)
 dbSNP
3g.186618598G>CCA355714552AHSGc.636G>C (p.Glu212Asp)
c.639G>C (p.Glu213Asp)
c.633G>C (p.Glu211Asp)
3g.186618598G=CA1427018722AHSGc.636G= (p.Glu212=)
c.639G= (p.Glu213=)
c.633G= (p.Glu211=)
3g.186618598G>TCA355714553AHSGc.636G>T (p.Glu212Asp)
c.639G>T (p.Glu213Asp)
c.633G>T (p.Glu211Asp)
3g.186618599G>ACA355714556AHSGc.637G>A (p.Ala213Thr)
c.640G>A (p.Ala214Thr)
c.634G>A (p.Ala212Thr)
3g.186618599G>CCA355714554AHSGc.637G>C (p.Ala213Pro)
c.640G>C (p.Ala214Pro)
c.634G>C (p.Ala212Pro)
3g.186618599G>TCA355714555AHSGc.637G>T (p.Ala213Ser)
c.640G>T (p.Ala214Ser)
c.634G>T (p.Ala212Ser)
3g.186618600C>ACA355714557AHSGc.638C>A (p.Ala213Asp)
c.641C>A (p.Ala214Asp)
c.635C>A (p.Ala212Asp)
 gnomAD v4
3g.186618600C=CA1427018723AHSGc.638C= (p.Ala213=)
c.641C= (p.Ala214=)
c.635C= (p.Ala212=)
3g.186618600C>GCA89626703AHSGc.638C>G (p.Ala213Gly)
c.641C>G (p.Ala214Gly)
c.635C>G (p.Ala212Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618600C>TCA355714558AHSGc.638C>T (p.Ala213Val)
c.641C>T (p.Ala214Val)
c.635C>T (p.Ala212Val)
3g.186618601C>ACA437357911AHSGc.639C>A (p.Ala213=)
c.642C>A (p.Ala214=)
c.636C>A (p.Ala212=)
3g.186618601C>GCA437357914AHSGc.639C>G (p.Ala213=)
c.642C>G (p.Ala214=)
c.636C>G (p.Ala212=)
3g.186618601C>TCA437357913AHSGc.639C>T (p.Ala213=)
c.642C>T (p.Ala214=)
c.636C>T (p.Ala212=)
 gnomAD v4
3g.186618602A>CCA355714559AHSGc.640A>C (p.Thr214Pro)
c.643A>C (p.Thr215Pro)
c.637A>C (p.Thr213Pro)
 COSMIC
3g.186618602A>GCA355714560AHSGc.640A>G (p.Thr214Ala)
c.643A>G (p.Thr215Ala)
c.637A>G (p.Thr213Ala)
3g.186618602A>TCA355714561AHSGc.640A>T (p.Thr214Ser)
c.643A>T (p.Thr215Ser)
c.637A>T (p.Thr213Ser)
3g.186618603C>ACA355714562AHSGc.641C>A (p.Thr214Lys)
c.644C>A (p.Thr215Lys)
c.638C>A (p.Thr213Lys)
3g.186618603C=CA1427018724AHSGc.641C= (p.Thr214=)
c.644C= (p.Thr215=)
c.638C= (p.Thr213=)
3g.186618603C>GCA355714563AHSGc.641C>G (p.Thr214Arg)
c.644C>G (p.Thr215Arg)
c.638C>G (p.Thr213Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.186618603C>TCA355714564AHSGc.641C>T (p.Thr214Ile)
c.644C>T (p.Thr215Ile)
c.638C>T (p.Thr213Ile)
3g.186618603_186618604delinsCACA1427018725AHSGc.641_642delinsCA (p.Thr214=)
c.644_645delinsCA (p.Thr215=)
c.638_639delinsCA (p.Thr213=)
3g.186618604delCA903919420AHSGc.642del (p.Glu215ArgfsTer?)
c.645del (p.Glu216ArgfsTer?)
c.639del (p.Glu214ArgfsTer?)
c.642del (p.Glu215ArgfsTer13)
 dbSNP gnomAD v4
3g.186618604A>CCA437357917AHSGc.642A>C (p.Thr214=)
c.645A>C (p.Thr215=)
c.639A>C (p.Thr213=)
3g.186618604A>GCA437357918AHSGc.642A>G (p.Thr214=)
c.645A>G (p.Thr215=)
c.639A>G (p.Thr213=)
3g.186618604A>TCA437357919AHSGc.642A>T (p.Thr214=)
c.645A>T (p.Thr215=)
c.639A>T (p.Thr213=)
3g.186618605G>ACA355714565AHSGc.643G>A (p.Glu215Lys)
c.646G>A (p.Glu216Lys)
c.640G>A (p.Glu214Lys)
3g.186618605G>CCA355714566AHSGc.643G>C (p.Glu215Gln)
c.646G>C (p.Glu216Gln)
c.640G>C (p.Glu214Gln)
3g.186618605G>TCA355714567AHSGc.643G>T (p.Glu215Ter)
c.646G>T (p.Glu216Ter)
c.640G>T (p.Glu214Ter)
3g.186618606A>CCA355714568AHSGc.644A>C (p.Glu215Ala)
c.647A>C (p.Glu216Ala)
c.641A>C (p.Glu214Ala)
3g.186618606A>GCA355714570AHSGc.644A>G (p.Glu215Gly)
c.647A>G (p.Glu216Gly)
c.641A>G (p.Glu214Gly)
3g.186618606A>TCA355714569AHSGc.644A>T (p.Glu215Val)
c.647A>T (p.Glu216Val)
c.641A>T (p.Glu214Val)
3g.186618607G>ACA437357926AHSGc.645G>A (p.Glu215=)
c.648G>A (p.Glu216=)
c.642G>A (p.Glu214=)
3g.186618607G>CCA355714571AHSGc.645G>C (p.Glu215Asp)
c.648G>C (p.Glu216Asp)
c.642G>C (p.Glu214Asp)
3g.186618607G>TCA355714572AHSGc.645G>T (p.Glu215Asp)
c.648G>T (p.Glu216Asp)
c.642G>T (p.Glu214Asp)
3g.186618608G>ACA2744966AHSGc.646G>A (p.Ala216Thr)
c.649G>A (p.Ala217Thr)
c.643G>A (p.Ala215Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618608G>CCA355714574AHSGc.646G>C (p.Ala216Pro)
c.649G>C (p.Ala217Pro)
c.643G>C (p.Ala215Pro)
3g.186618608G=CA1427018726AHSGc.646G= (p.Ala216=)
c.649G= (p.Ala217=)
c.643G= (p.Ala215=)
3g.186618608G>TCA355714573AHSGc.646G>T (p.Ala216Ser)
c.649G>T (p.Ala217Ser)
c.643G>T (p.Ala215Ser)
3g.186618609C>ACA355714575AHSGc.647C>A (p.Ala216Glu)
c.650C>A (p.Ala217Glu)
c.644C>A (p.Ala215Glu)
3g.186618609C>GCA355714576AHSGc.647C>G (p.Ala216Gly)
c.650C>G (p.Ala217Gly)
c.644C>G (p.Ala215Gly)
3g.186618609C>TCA355714577AHSGc.647C>T (p.Ala216Val)
c.650C>T (p.Ala217Val)
c.644C>T (p.Ala215Val)
3g.186618610A>CCA437357931AHSGc.648A>C (p.Ala216=)
c.651A>C (p.Ala217=)
c.645A>C (p.Ala215=)
3g.186618610A>GCA437357932AHSGc.648A>G (p.Ala216=)
c.651A>G (p.Ala217=)
c.645A>G (p.Ala215=)
3g.186618610A>TCA437357933AHSGc.648A>T (p.Ala216=)
c.651A>T (p.Ala217=)
c.645A>T (p.Ala215=)
3g.186618611G>ACA355714578AHSGc.649G>A (p.Ala217Thr)
c.652G>A (p.Ala218Thr)
c.646G>A (p.Ala216Thr)
3g.186618611G>CCA355714579AHSGc.649G>C (p.Ala217Pro)
c.652G>C (p.Ala218Pro)
c.646G>C (p.Ala216Pro)
3g.186618611G>TCA355714580AHSGc.649G>T (p.Ala217Ser)
c.652G>T (p.Ala218Ser)
c.646G>T (p.Ala216Ser)
3g.186618612C>ACA355714581AHSGc.650C>A (p.Ala217Asp)
c.653C>A (p.Ala218Asp)
c.647C>A (p.Ala216Asp)
3g.186618612C>GCA355714582AHSGc.650C>G (p.Ala217Gly)
c.653C>G (p.Ala218Gly)
c.647C>G (p.Ala216Gly)
3g.186618612C>TCA355714583AHSGc.650C>T (p.Ala217Val)
c.653C>T (p.Ala218Val)
c.647C>T (p.Ala216Val)
3g.186618613C>ACA2744967AHSGc.651C>A (p.Ala217=)
c.654C>A (p.Ala218=)
c.648C>A (p.Ala216=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618613C=CA1427018727AHSGc.651C= (p.Ala217=)
c.654C= (p.Ala218=)
c.648C= (p.Ala216=)
3g.186618613C>GCA437357939AHSGc.651C>G (p.Ala217=)
c.654C>G (p.Ala218=)
c.648C>G (p.Ala216=)
3g.186618613C>TCA437357940AHSGc.651C>T (p.Ala217=)
c.654C>T (p.Ala218=)
c.648C>T (p.Ala216=)
 dbSNP
3g.186618614A=CA1427018728AHSGc.652A= (p.Lys218=)
c.655A= (p.Lys219=)
c.649A= (p.Lys217=)
3g.186618614A>CCA355714584AHSGc.652A>C (p.Lys218Gln)
c.655A>C (p.Lys219Gln)
c.649A>C (p.Lys217Gln)
 dbSNP
3g.186618614A>GCA355714585AHSGc.652A>G (p.Lys218Glu)
c.655A>G (p.Lys219Glu)
c.649A>G (p.Lys217Glu)
 dbSNP gnomAD v4
3g.186618614A>TCA2744968AHSGc.652A>T (p.Lys218Ter)
c.655A>T (p.Lys219Ter)
c.649A>T (p.Lys217Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618615A>CCA355714588AHSGc.653A>C (p.Lys218Thr)
c.656A>C (p.Lys219Thr)
c.650A>C (p.Lys217Thr)
 gnomAD v4
3g.186618615A>GCA355714587AHSGc.653A>G (p.Lys218Arg)
c.656A>G (p.Lys219Arg)
c.650A>G (p.Lys217Arg)
3g.186618615A>TCA355714586AHSGc.653A>T (p.Lys218Met)
c.656A>T (p.Lys219Met)
c.650A>T (p.Lys217Met)
3g.186618616G>ACA437357943AHSGc.654G>A (p.Lys218=)
c.657G>A (p.Lys219=)
c.651G>A (p.Lys217=)
 gnomAD v4
3g.186618616G>CCA355714589AHSGc.654G>C (p.Lys218Asn)
c.657G>C (p.Lys219Asn)
c.651G>C (p.Lys217Asn)
 gnomAD v4
3g.186618616G=CA1427018729AHSGc.654G= (p.Lys218=)
c.657G= (p.Lys219=)
c.651G= (p.Lys217=)
3g.186618616G>TCA355714590AHSGc.654G>T (p.Lys218Asn)
c.657G>T (p.Lys219Asn)
c.651G>T (p.Lys217Asn)
 dbSNP
3g.186618617T>ACA355714591AHSGc.655T>A (p.Cys219Ser)
c.658T>A (p.Cys220Ser)
c.652T>A (p.Cys218Ser)
 gnomAD v4
3g.186618617T>CCA355714592AHSGc.655T>C (p.Cys219Arg)
c.658T>C (p.Cys220Arg)
c.652T>C (p.Cys218Arg)
3g.186618617T>GCA2744969AHSGc.655T>G (p.Cys219Gly)
c.658T>G (p.Cys220Gly)
c.652T>G (p.Cys218Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618617T=CA1427018730AHSGc.655T= (p.Cys219=)
c.658T= (p.Cys220=)
c.652T= (p.Cys218=)
3g.186618618G>ACA355714593AHSGc.656G>A (p.Cys219Tyr)
c.659G>A (p.Cys220Tyr)
c.653G>A (p.Cys218Tyr)
3g.186618618G>CCA355714594AHSGc.656G>C (p.Cys219Ser)
c.659G>C (p.Cys220Ser)
c.653G>C (p.Cys218Ser)
3g.186618618G>TCA355714595AHSGc.656G>T (p.Cys219Phe)
c.659G>T (p.Cys220Phe)
c.653G>T (p.Cys218Phe)
3g.186618619T>ACA355714596AHSGc.657T>A (p.Cys219Ter)
c.660T>A (p.Cys220Ter)
c.654T>A (p.Cys218Ter)
3g.186618619T>CCA437357948AHSGc.657T>C (p.Cys219=)
c.660T>C (p.Cys220=)
c.654T>C (p.Cys218=)
3g.186618619T>GCA355714597AHSGc.657T>G (p.Cys219Trp)
c.660T>G (p.Cys220Trp)
c.654T>G (p.Cys218Trp)
3g.186618620A>CCA355714598AHSGc.658A>C (p.Asn220His)
c.661A>C (p.Asn221His)
c.655A>C (p.Asn219His)
3g.186618620A>GCA355714599AHSGc.658A>G (p.Asn220Asp)
c.661A>G (p.Asn221Asp)
c.655A>G (p.Asn219Asp)
3g.186618620A>TCA355714600AHSGc.658A>T (p.Asn220Tyr)
c.661A>T (p.Asn221Tyr)
c.655A>T (p.Asn219Tyr)
3g.186618621A>CCA355714602AHSGc.659A>C (p.Asn220Thr)
c.662A>C (p.Asn221Thr)
c.656A>C (p.Asn219Thr)
3g.186618621A>GCA355714603AHSGc.659A>G (p.Asn220Ser)
c.662A>G (p.Asn221Ser)
c.656A>G (p.Asn219Ser)
3g.186618621A>TCA355714601AHSGc.659A>T (p.Asn220Ile)
c.662A>T (p.Asn221Ile)
c.656A>T (p.Asn219Ile)
3g.186618622C>ACA2744970AHSGc.660C>A (p.Asn220Lys)
c.663C>A (p.Asn221Lys)
c.657C>A (p.Asn219Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618622C=CA1427018731AHSGc.660C= (p.Asn220=)
c.663C= (p.Asn221=)
c.657C= (p.Asn219=)
3g.186618622C>GCA355714604AHSGc.660C>G (p.Asn220Lys)
c.663C>G (p.Asn221Lys)
c.657C>G (p.Asn219Lys)
3g.186618622C>TCA437357952AHSGc.660C>T (p.Asn220=)
c.663C>T (p.Asn221=)
c.657C>T (p.Asn219=)
 dbSNP gnomAD v2 gnomAD v4
3g.186618623delCA2578016391AHSGc.661del (p.Leu221CysfsTer25)
c.664del (p.Leu222CysfsTer25)
c.658del (p.Leu220CysfsTer25)
c.661del (p.Leu221CysfsTer7)
3g.186618623C>ACA355714605AHSGc.661C>A (p.Leu221Met)
c.664C>A (p.Leu222Met)
c.658C>A (p.Leu220Met)
3g.186618623C=CA1427018732AHSGc.661C= (p.Leu221=)
c.664C= (p.Leu222=)
c.658C= (p.Leu220=)
3g.186618623C>GCA355714606AHSGc.661C>G (p.Leu221Val)
c.664C>G (p.Leu222Val)
c.658C>G (p.Leu220Val)
 dbSNP gnomAD v2 gnomAD v4
3g.186618623C>TCA437357953AHSGc.661C>T (p.Leu221=)
c.664C>T (p.Leu222=)
c.658C>T (p.Leu220=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618624T>ACA355714607AHSGc.662T>A (p.Leu221Gln)
c.665T>A (p.Leu222Gln)
c.659T>A (p.Leu220Gln)
3g.186618624T>CCA2744971AHSGc.662T>C (p.Leu221Pro)
c.665T>C (p.Leu222Pro)
c.659T>C (p.Leu220Pro)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.186618624T>GCA355714608AHSGc.662T>G (p.Leu221Arg)
c.665T>G (p.Leu222Arg)
c.659T>G (p.Leu220Arg)
3g.186618624T=CA1427018733AHSGc.662T= (p.Leu221=)
c.665T= (p.Leu222=)
c.659T= (p.Leu220=)
3g.186618625G>ACA437357954AHSGc.663G>A (p.Leu221=)
c.666G>A (p.Leu222=)
c.660G>A (p.Leu220=)
3g.186618625G>CCA437357956AHSGc.663G>C (p.Leu221=)
c.666G>C (p.Leu222=)
c.660G>C (p.Leu220=)
3g.186618625G>TCA437357959AHSGc.663G>T (p.Leu221=)
c.666G>T (p.Leu222=)
c.660G>T (p.Leu220=)
3g.186618626C>ACA355714609AHSGc.664C>A (p.Leu222Met)
c.667C>A (p.Leu223Met)
c.661C>A (p.Leu221Met)
3g.186618626C=CA1427018734AHSGc.664C= (p.Leu222=)
c.667C= (p.Leu223=)
c.661C= (p.Leu221=)
3g.186618626C>GCA355714610AHSGc.664C>G (p.Leu222Val)
c.667C>G (p.Leu223Val)
c.661C>G (p.Leu221Val)
 dbSNP
3g.186618626C>TCA437357960AHSGc.664C>T (p.Leu222=)
c.667C>T (p.Leu223=)
c.661C>T (p.Leu221=)
3g.186618627T>ACA355714611AHSGc.665T>A (p.Leu222Gln)
c.668T>A (p.Leu223Gln)
c.662T>A (p.Leu221Gln)
 gnomAD v4
3g.186618627T>CCA355714612AHSGc.665T>C (p.Leu222Pro)
c.668T>C (p.Leu223Pro)
c.662T>C (p.Leu221Pro)
3g.186618627T>GCA355714613AHSGc.665T>G (p.Leu222Arg)
c.668T>G (p.Leu223Arg)
c.662T>G (p.Leu221Arg)
3g.186618628G>ACA437357963AHSGc.666G>A (p.Leu222=)
c.669G>A (p.Leu223=)
c.663G>A (p.Leu221=)
3g.186618628G>CCA437357964AHSGc.666G>C (p.Leu222=)
c.669G>C (p.Leu223=)
c.663G>C (p.Leu221=)
3g.186618628G>TCA437357962AHSGc.666G>T (p.Leu222=)
c.669G>T (p.Leu223=)
c.663G>T (p.Leu221=)
3g.186618629G>ACA355714616AHSGc.667G>A (p.Ala223Thr)
c.670G>A (p.Ala224Thr)
c.664G>A (p.Ala222Thr)
3g.186618629G>CCA355714614AHSGc.667G>C (p.Ala223Pro)
c.670G>C (p.Ala224Pro)
c.664G>C (p.Ala222Pro)
3g.186618629G>TCA355714615AHSGc.667G>T (p.Ala223Ser)
c.670G>T (p.Ala224Ser)
c.664G>T (p.Ala222Ser)
3g.186618630C>ACA355714617AHSGc.668C>A (p.Ala223Glu)
c.671C>A (p.Ala224Glu)
c.665C>A (p.Ala222Glu)
 gnomAD v4
3g.186618630C=CA1427018735AHSGc.668C= (p.Ala223=)
c.671C= (p.Ala224=)
c.665C= (p.Ala222=)
3g.186618630C>GCA2744972AHSGc.668C>G (p.Ala223Gly)
c.671C>G (p.Ala224Gly)
c.665C>G (p.Ala222Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618630C>TCA355714618AHSGc.668C>T (p.Ala223Val)
c.671C>T (p.Ala224Val)
c.665C>T (p.Ala222Val)
3g.186618631A>CCA437357968AHSGc.669A>C (p.Ala223=)
c.672A>C (p.Ala224=)
c.666A>C (p.Ala222=)
3g.186618631A>GCA437357969AHSGc.669A>G (p.Ala223=)
c.672A>G (p.Ala224=)
c.666A>G (p.Ala222=)
3g.186618631A>TCA437357970AHSGc.669A>T (p.Ala223=)
c.672A>T (p.Ala224=)
c.666A>T (p.Ala222=)
3g.186618632G>ACA355714619AHSGc.670G>A (p.Glu224Lys)
c.673G>A (p.Glu225Lys)
c.667G>A (p.Glu223Lys)
3g.186618632G>CCA355714620AHSGc.670G>C (p.Glu224Gln)
c.673G>C (p.Glu225Gln)
c.667G>C (p.Glu223Gln)
3g.186618632G>TCA355714621AHSGc.670G>T (p.Glu224Ter)
c.673G>T (p.Glu225Ter)
c.667G>T (p.Glu223Ter)
 dbSNP
3g.186618633A>CCA355714622AHSGc.671A>C (p.Glu224Ala)
c.674A>C (p.Glu225Ala)
c.668A>C (p.Glu223Ala)
3g.186618633A>GCA355714623AHSGc.671A>G (p.Glu224Gly)
c.674A>G (p.Glu225Gly)
c.668A>G (p.Glu223Gly)
3g.186618633A>TCA355714624AHSGc.671A>T (p.Glu224Val)
c.674A>T (p.Glu225Val)
c.668A>T (p.Glu223Val)
3g.186618636delCA2668959008AHSGc.674del (p.Lys225SerfsTer21)
c.677del (p.Lys226SerfsTer21)
c.671del (p.Lys224SerfsTer21)
c.674del (p.Lys225SerfsTer3)
 gnomAD v4
3g.186618634A>CCA355714625AHSGc.672A>C (p.Glu224Asp)
c.675A>C (p.Glu225Asp)
c.669A>C (p.Glu223Asp)
3g.186618634A>GCA437357973AHSGc.672A>G (p.Glu224=)
c.675A>G (p.Glu225=)
c.669A>G (p.Glu223=)
3g.186618634A>TCA355714626AHSGc.672A>T (p.Glu224Asp)
c.675A>T (p.Glu225Asp)
c.669A>T (p.Glu223Asp)
3g.186618635A>CCA355714629AHSGc.673A>C (p.Lys225Gln)
c.676A>C (p.Lys226Gln)
c.670A>C (p.Lys224Gln)
3g.186618635A>GCA355714628AHSGc.673A>G (p.Lys225Glu)
c.676A>G (p.Lys226Glu)
c.670A>G (p.Lys224Glu)
3g.186618635A>TCA355714627AHSGc.673A>T (p.Lys225Ter)
c.676A>T (p.Lys226Ter)
c.670A>T (p.Lys224Ter)
3g.186618636A>CCA355714630AHSGc.674A>C (p.Lys225Thr)
c.677A>C (p.Lys226Thr)
c.671A>C (p.Lys224Thr)
3g.186618636A>GCA355714632AHSGc.674A>G (p.Lys225Arg)
c.677A>G (p.Lys226Arg)
c.671A>G (p.Lys224Arg)
3g.186618636A>TCA355714631AHSGc.674A>T (p.Lys225Met)
c.677A>T (p.Lys226Met)
c.671A>T (p.Lys224Met)
3g.186618637G>ACA437357976AHSGc.675G>A (p.Lys225=)
c.678G>A (p.Lys226=)
c.672G>A (p.Lys224=)
3g.186618637G>CCA355714633AHSGc.675G>C (p.Lys225Asn)
c.678G>C (p.Lys226Asn)
c.672G>C (p.Lys224Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618637G=CA1427018736AHSGc.675G= (p.Lys225=)
c.678G= (p.Lys226=)
c.672G= (p.Lys224=)
3g.186618637G>TCA355714634AHSGc.675G>T (p.Lys225Asn)
c.678G>T (p.Lys226Asn)
c.672G>T (p.Lys224Asn)
3g.186618638G>ACA355714635AHSGc.675+1G>A (n.675+1G>A)
c.678+1G>A (n.678+1G>A)
c.672+1G>A (n.672+1G>A)
3g.186618638G>CCA355714636AHSGc.675+1G>C (n.675+1G>C)
c.678+1G>C (n.678+1G>C)
c.672+1G>C (n.672+1G>C)
3g.186618638G=CA1427018737AHSGc.675+1G= (n.675+1G=)
c.678+1G= (n.678+1G=)
c.672+1G= (n.672+1G=)
3g.186618638G>TCA2744973AHSGc.675+1G>T (n.675+1G>T)
c.678+1G>T (n.678+1G>T)
c.672+1G>T (n.672+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.186618639delCA2668959009AHSGc.675+2del (n.675+2del)
c.678+2del (n.678+2del)
c.672+2del (n.672+2del)
 gnomAD v4
3g.186618639T>ACA355714637AHSGc.675+2T>A (n.675+2T>A)
c.678+2T>A (n.678+2T>A)
c.672+2T>A (n.672+2T>A)
3g.186618639T>CCA89626749AHSGc.675+2T>C (n.675+2T>C)
c.678+2T>C (n.678+2T>C)
c.672+2T>C (n.672+2T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.186618639T>GCA355714638AHSGc.675+2T>G (n.675+2T>G)
c.678+2T>G (n.678+2T>G)
c.672+2T>G (n.672+2T>G)
 dbSNP
3g.186618639T=CA1427018738AHSGc.675+2T= (n.675+2T=)
c.678+2T= (n.678+2T=)
c.672+2T= (n.672+2T=)
3g.186618640G>ACA89626758AHSGc.675+3G>A (n.675+3G>A)
c.678+3G>A (n.678+3G>A)
c.672+3G>A (n.672+3G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.186618640G>CCA2668959011AHSGc.675+3G>C (n.675+3G>C)
c.678+3G>C (n.678+3G>C)
c.672+3G>C (n.672+3G>C)
 gnomAD v4
3g.186618640G=CA1427018739AHSGc.675+3G= (n.675+3G=)
c.678+3G= (n.678+3G=)
c.672+3G= (n.672+3G=)
3g.186618640G>TCA2668959012AHSGc.675+3G>T (n.675+3G>T)
c.678+3G>T (n.678+3G>T)
c.672+3G>T (n.672+3G>T)
 gnomAD v4
3g.186618642G>ACA2744974AHSGc.675+5G>A (n.675+5G>A)
c.678+5G>A (n.678+5G>A)
c.672+5G>A (n.672+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618642G=CA1427018740AHSGc.675+5G= (n.675+5G=)
c.678+5G= (n.678+5G=)
c.672+5G= (n.672+5G=)
3g.186618644G>ACA2744975AHSGc.675+7G>A (n.675+7G>A)
c.678+7G>A (n.678+7G>A)
c.672+7G>A (n.672+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618644G=CA1427018741AHSGc.675+7G= (n.675+7G=)
c.678+7G= (n.678+7G=)
c.672+7G= (n.672+7G=)
3g.186618646G>ACA2744976AHSGc.675+9G>A (n.675+9G>A)
c.678+9G>A (n.678+9G>A)
c.672+9G>A (n.672+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618646G=CA1427018742AHSGc.675+9G= (n.675+9G=)
c.678+9G= (n.678+9G=)
c.672+9G= (n.672+9G=)
3g.186618646G>TCA2744977AHSGc.675+9G>T (n.675+9G>T)
c.678+9G>T (n.678+9G>T)
c.672+9G>T (n.672+9G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618647C>ACA2744978AHSGc.675+10C>A (n.675+10C>A)
c.678+10C>A (n.678+10C>A)
c.672+10C>A (n.672+10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618647C=CA1427018743AHSGc.675+10C= (n.675+10C=)
c.678+10C= (n.678+10C=)
c.672+10C= (n.672+10C=)
3g.186618648C=CA1427018744AHSGc.675+11C= (n.675+11C=)
c.678+11C= (n.678+11C=)
c.672+11C= (n.672+11C=)
3g.186618648C>GCA2744980AHSGc.675+11C>G (n.675+11C>G)
c.678+11C>G (n.678+11C>G)
c.672+11C>G (n.672+11C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.186618648C>TCA2744979AHSGc.675+11C>T (n.675+11C>T)
c.678+11C>T (n.678+11C>T)
c.672+11C>T (n.672+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched