Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.21978881A=CA2419127574SMSc.665A= (p.Asp222=)
c.506A= (p.Asp169=)
c.563A= (p.Asp188=)
Xg.21978881A>CCA412568968SMSc.665A>C (p.Asp222Ala)
c.506A>C (p.Asp169Ala)
c.563A>C (p.Asp188Ala)
Xg.21978881A>GCA412568969SMSc.665A>G (p.Asp222Gly)
c.506A>G (p.Asp169Gly)
c.563A>G (p.Asp188Gly)
Xg.21978881A>TCA412568970SMSc.665A>T (p.Asp222Val)
c.506A>T (p.Asp169Val)
c.563A>T (p.Asp188Val)
 ClinVar dbSNP
Xg.21978882C>ACA412568971SMSc.666C>A (p.Asp222Glu)
c.507C>A (p.Asp169Glu)
c.564C>A (p.Asp188Glu)
Xg.21978882C>GCA412568972SMSc.666C>G (p.Asp222Glu)
c.507C>G (p.Asp169Glu)
c.564C>G (p.Asp188Glu)
Xg.21978882C>TCA515423566SMSc.666C>T (p.Asp222=)
c.507C>T (p.Asp169=)
c.564C>T (p.Asp188=)
 gnomAD v4
Xg.21978883C>ACA412568975SMSc.667C>A (p.Gln223Lys)
c.508C>A (p.Gln170Lys)
c.565C>A (p.Gln189Lys)
 gnomAD v4
Xg.21978883C>GCA412568973SMSc.667C>G (p.Gln223Glu)
c.508C>G (p.Gln170Glu)
c.565C>G (p.Gln189Glu)
Xg.21978883C>TCA412568974SMSc.667C>T (p.Gln223Ter)
c.508C>T (p.Gln170Ter)
c.565C>T (p.Gln189Ter)
 gnomAD v4
Xg.21978884A>CCA412568976SMSc.668A>C (p.Gln223Pro)
c.509A>C (p.Gln170Pro)
c.566A>C (p.Gln189Pro)
Xg.21978884A>GCA412568977SMSc.668A>G (p.Gln223Arg)
c.509A>G (p.Gln170Arg)
c.566A>G (p.Gln189Arg)
Xg.21978884A>TCA412568978SMSc.668A>T (p.Gln223Leu)
c.509A>T (p.Gln170Leu)
c.566A>T (p.Gln189Leu)
Xg.21978885A>CCA412568979SMSc.669A>C (p.Gln223His)
c.510A>C (p.Gln170His)
c.567A>C (p.Gln189His)
 COSMIC COSMIC
Xg.21978885A>GCA515423567SMSc.669A>G (p.Gln223=)
c.510A>G (p.Gln170=)
c.567A>G (p.Gln189=)
Xg.21978885A>TCA412568980SMSc.669A>T (p.Gln223His)
c.510A>T (p.Gln170His)
c.567A>T (p.Gln189His)
Xg.21978886A>CCA412568983SMSc.670A>C (p.Met224Leu)
c.511A>C (p.Met171Leu)
c.568A>C (p.Met190Leu)
Xg.21978886A>GCA412568981SMSc.670A>G (p.Met224Val)
c.511A>G (p.Met171Val)
c.568A>G (p.Met190Val)
 gnomAD v4
Xg.21978886A>TCA412568982SMSc.670A>T (p.Met224Leu)
c.511A>T (p.Met171Leu)
c.568A>T (p.Met190Leu)
Xg.21978887T>ACA412568984SMSc.671T>A (p.Met224Lys)
c.512T>A (p.Met171Lys)
c.569T>A (p.Met190Lys)
Xg.21978887T>CCA412568985SMSc.671T>C (p.Met224Thr)
c.512T>C (p.Met171Thr)
c.569T>C (p.Met190Thr)
Xg.21978887T>GCA412568986SMSc.671T>G (p.Met224Arg)
c.512T>G (p.Met171Arg)
c.569T>G (p.Met190Arg)
Xg.21978888G>ACA412568987SMSc.672G>A (p.Met224Ile)
c.513G>A (p.Met171Ile)
c.570G>A (p.Met190Ile)
Xg.21978888G>CCA412568988SMSc.672G>C (p.Met224Ile)
c.513G>C (p.Met171Ile)
c.570G>C (p.Met190Ile)
Xg.21978888G>TCA412568989SMSc.672G>T (p.Met224Ile)
c.513G>T (p.Met171Ile)
c.570G>T (p.Met190Ile)
Xg.21978889G>ACA412568990SMSc.673G>A (p.Val225Met)
c.514G>A (p.Val172Met)
c.571G>A (p.Val191Met)
Xg.21978889G>CCA412568991SMSc.673G>C (p.Val225Leu)
c.514G>C (p.Val172Leu)
c.571G>C (p.Val191Leu)
Xg.21978889G>TCA412568992SMSc.673G>T (p.Val225Leu)
c.514G>T (p.Val172Leu)
c.571G>T (p.Val191Leu)
Xg.21978890T>ACA412568993SMSc.674T>A (p.Val225Glu)
c.515T>A (p.Val172Glu)
c.572T>A (p.Val191Glu)
Xg.21978890T>CCA412568994SMSc.674T>C (p.Val225Ala)
c.515T>C (p.Val172Ala)
c.572T>C (p.Val191Ala)
 ClinVar
Xg.21978890T>GCA412568995SMSc.674T>G (p.Val225Gly)
c.515T>G (p.Val172Gly)
c.572T>G (p.Val191Gly)
Xg.21978891G>ACA10367835SMSc.675G>A (p.Val225=)
c.516G>A (p.Val172=)
c.573G>A (p.Val191=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.21978891G>CCA515423568SMSc.675G>C (p.Val225=)
c.516G>C (p.Val172=)
c.573G>C (p.Val191=)
Xg.21978891G=CA2419127575SMSc.675G= (p.Val225=)
c.516G= (p.Val172=)
c.573G= (p.Val191=)
Xg.21978891G>TCA515423569SMSc.675G>T (p.Val225=)
c.516G>T (p.Val172=)
c.573G>T (p.Val191=)
Xg.21978891_21978895delCA2579571581SMSc.675_679del (p.Ile226TrpfsTer3)
c.516_520del (p.Ile173TrpfsTer3)
c.573_577del (p.Ile192TrpfsTer3)
Xg.21978892A>CCA412568998SMSc.676A>C (p.Ile226Leu)
c.517A>C (p.Ile173Leu)
c.574A>C (p.Ile192Leu)
Xg.21978892A>GCA412568996SMSc.676A>G (p.Ile226Val)
c.517A>G (p.Ile173Val)
c.574A>G (p.Ile192Val)
 gnomAD v4
Xg.21978892A>TCA412568997SMSc.676A>T (p.Ile226Phe)
c.517A>T (p.Ile173Phe)
c.574A>T (p.Ile192Phe)
Xg.21978893T>ACA412568999SMSc.677T>A (p.Ile226Asn)
c.518T>A (p.Ile173Asn)
c.575T>A (p.Ile192Asn)
Xg.21978893T>CCA412569000SMSc.677T>C (p.Ile226Thr)
c.518T>C (p.Ile173Thr)
c.575T>C (p.Ile192Thr)
Xg.21978893T>GCA412569001SMSc.677T>G (p.Ile226Ser)
c.518T>G (p.Ile173Ser)
c.575T>G (p.Ile192Ser)
Xg.21978894T>ACA515423570SMSc.678T>A (p.Ile226=)
c.519T>A (p.Ile173=)
c.576T>A (p.Ile192=)
Xg.21978894T>CCA515423571SMSc.678T>C (p.Ile226=)
c.519T>C (p.Ile173=)
c.576T>C (p.Ile192=)
Xg.21978894T>GCA412569002SMSc.678T>G (p.Ile226Met)
c.519T>G (p.Ile173Met)
c.576T>G (p.Ile192Met)
 gnomAD v4
Xg.21978895G>ACA412569003SMSc.679G>A (p.Asp227Asn)
c.520G>A (p.Asp174Asn)
c.577G>A (p.Asp193Asn)
 gnomAD v4
Xg.21978895G>CCA412569004SMSc.679G>C (p.Asp227His)
c.520G>C (p.Asp174His)
c.577G>C (p.Asp193His)
 gnomAD v4
Xg.21978895G>TCA412569005SMSc.679G>T (p.Asp227Tyr)
c.520G>T (p.Asp174Tyr)
c.577G>T (p.Asp193Tyr)
Xg.21978896A>CCA412569008SMSc.680A>C (p.Asp227Ala)
c.521A>C (p.Asp174Ala)
c.578A>C (p.Asp193Ala)
Xg.21978896A>GCA412569006SMSc.680A>G (p.Asp227Gly)
c.521A>G (p.Asp174Gly)
c.578A>G (p.Asp193Gly)
Xg.21978896A>TCA412569007SMSc.680A>T (p.Asp227Val)
c.521A>T (p.Asp174Val)
c.578A>T (p.Asp193Val)
Xg.21978897T>ACA412569009SMSc.681T>A (p.Asp227Glu)
c.522T>A (p.Asp174Glu)
c.579T>A (p.Asp193Glu)
 dbSNP
Xg.21978897T>CCA515423572SMSc.681T>C (p.Asp227=)
c.522T>C (p.Asp174=)
c.579T>C (p.Asp193=)
 gnomAD v4
Xg.21978897T>GCA412569010SMSc.681T>G (p.Asp227Glu)
c.522T>G (p.Asp174Glu)
c.579T>G (p.Asp193Glu)
Xg.21978897T=CA2419127576SMSc.681T= (p.Asp227=)
c.522T= (p.Asp174=)
c.579T= (p.Asp193=)
Xg.21978898G>ACA412569011SMSc.682G>A (p.Gly228Arg)
c.523G>A (p.Gly175Arg)
c.580G>A (p.Gly194Arg)
Xg.21978898G>CCA412569012SMSc.682G>C (p.Gly228Arg)
c.523G>C (p.Gly175Arg)
c.580G>C (p.Gly194Arg)
Xg.21978898G>TCA412569013SMSc.682G>T (p.Gly228Trp)
c.523G>T (p.Gly175Trp)
c.580G>T (p.Gly194Trp)
Xg.21978899G>ACA412569014SMSc.683G>A (p.Gly228Glu)
c.524G>A (p.Gly175Glu)
c.581G>A (p.Gly194Glu)
Xg.21978899G>CCA412569016SMSc.683G>C (p.Gly228Ala)
c.524G>C (p.Gly175Ala)
c.581G>C (p.Gly194Ala)
Xg.21978899G>TCA412569015SMSc.683G>T (p.Gly228Val)
c.524G>T (p.Gly175Val)
c.581G>T (p.Gly194Val)
Xg.21978900G>ACA515423575SMSc.684G>A (p.Gly228=)
c.525G>A (p.Gly175=)
c.582G>A (p.Gly194=)
 gnomAD v4
Xg.21978900G>CCA515423573SMSc.684G>C (p.Gly228=)
c.525G>C (p.Gly175=)
c.582G>C (p.Gly194=)
Xg.21978900G>TCA515423574SMSc.684G>T (p.Gly228=)
c.525G>T (p.Gly175=)
c.582G>T (p.Gly194=)
 gnomAD v4
Xg.21978901T>ACA412569017SMSc.685T>A (p.Cys229Ser)
c.526T>A (p.Cys176Ser)
c.583T>A (p.Cys195Ser)
Xg.21978901T>CCA412569018SMSc.685T>C (p.Cys229Arg)
c.526T>C (p.Cys176Arg)
c.583T>C (p.Cys195Arg)
Xg.21978901T>GCA412569019SMSc.685T>G (p.Cys229Gly)
c.526T>G (p.Cys176Gly)
c.583T>G (p.Cys195Gly)
 ClinVar
Xg.21978902G>ACA412569020SMSc.686G>A (p.Cys229Tyr)
c.527G>A (p.Cys176Tyr)
c.584G>A (p.Cys195Tyr)
Xg.21978902G>CCA412569021SMSc.686G>C (p.Cys229Ser)
c.527G>C (p.Cys176Ser)
c.584G>C (p.Cys195Ser)
Xg.21978902G>TCA412569022SMSc.686G>T (p.Cys229Phe)
c.527G>T (p.Cys176Phe)
c.584G>T (p.Cys195Phe)
Xg.21978903T>ACA412569023SMSc.687T>A (p.Cys229Ter)
c.528T>A (p.Cys176Ter)
c.585T>A (p.Cys195Ter)
Xg.21978903T>CCA515423576SMSc.687T>C (p.Cys229=)
c.528T>C (p.Cys176=)
c.585T>C (p.Cys195=)
Xg.21978903T>GCA412569024SMSc.687T>G (p.Cys229Trp)
c.528T>G (p.Cys176Trp)
c.585T>G (p.Cys195Trp)
Xg.21978904A>CCA412569025SMSc.688A>C (p.Lys230Gln)
c.529A>C (p.Lys177Gln)
c.586A>C (p.Lys196Gln)
Xg.21978904A>GCA412569026SMSc.688A>G (p.Lys230Glu)
c.529A>G (p.Lys177Glu)
c.586A>G (p.Lys196Glu)
Xg.21978904A>TCA412569027SMSc.688A>T (p.Lys230Ter)
c.529A>T (p.Lys177Ter)
c.586A>T (p.Lys196Ter)
Xg.21978905A>CCA412569028SMSc.689A>C (p.Lys230Thr)
c.530A>C (p.Lys177Thr)
c.587A>C (p.Lys196Thr)
Xg.21978905A>GCA412569030SMSc.689A>G (p.Lys230Arg)
c.530A>G (p.Lys177Arg)
c.587A>G (p.Lys196Arg)
Xg.21978905A>TCA412569029SMSc.689A>T (p.Lys230Met)
c.530A>T (p.Lys177Met)
c.587A>T (p.Lys196Met)
Xg.21978906G>ACA515423577SMSc.690G>A (p.Lys230=)
c.531G>A (p.Lys177=)
c.588G>A (p.Lys196=)
Xg.21978906G>CCA412569031SMSc.690G>C (p.Lys230Asn)
c.531G>C (p.Lys177Asn)
c.588G>C (p.Lys196Asn)
Xg.21978906G>TCA412569032SMSc.690G>T (p.Lys230Asn)
c.531G>T (p.Lys177Asn)
c.588G>T (p.Lys196Asn)
Xg.21978907A>CCA412569033SMSc.691A>C (p.Lys231Gln)
c.532A>C (p.Lys178Gln)
c.589A>C (p.Lys197Gln)
Xg.21978907A>GCA412569034SMSc.691A>G (p.Lys231Glu)
c.532A>G (p.Lys178Glu)
c.589A>G (p.Lys197Glu)
Xg.21978907A>TCA412569035SMSc.691A>T (p.Lys231Ter)
c.532A>T (p.Lys178Ter)
c.589A>T (p.Lys197Ter)
Xg.21978908A>CCA412569036SMSc.692A>C (p.Lys231Thr)
c.533A>C (p.Lys178Thr)
c.590A>C (p.Lys197Thr)
Xg.21978908A>GCA412569037SMSc.692A>G (p.Lys231Arg)
c.533A>G (p.Lys178Arg)
c.590A>G (p.Lys197Arg)
Xg.21978908A>TCA412569038SMSc.692A>T (p.Lys231Ile)
c.533A>T (p.Lys178Ile)
c.590A>T (p.Lys197Ile)
Xg.21978909A>CCA412569039SMSc.693A>C (p.Lys231Asn)
c.534A>C (p.Lys178Asn)
c.591A>C (p.Lys197Asn)
Xg.21978909A>GCA515423578SMSc.693A>G (p.Lys231=)
c.534A>G (p.Lys178=)
c.591A>G (p.Lys197=)
Xg.21978909A>TCA412569040SMSc.693A>T (p.Lys231Asn)
c.534A>T (p.Lys178Asn)
c.591A>T (p.Lys197Asn)
Xg.21978910T>ACA412569041SMSc.694T>A (p.Tyr232Asn)
c.535T>A (p.Tyr179Asn)
c.592T>A (p.Tyr198Asn)
Xg.21978910T>CCA412569042SMSc.694T>C (p.Tyr232His)
c.535T>C (p.Tyr179His)
c.592T>C (p.Tyr198His)
 COSMIC
Xg.21978910T>GCA412569043SMSc.694T>G (p.Tyr232Asp)
c.535T>G (p.Tyr179Asp)
c.592T>G (p.Tyr198Asp)
Xg.21978911A>CCA412569046SMSc.695A>C (p.Tyr232Ser)
c.536A>C (p.Tyr179Ser)
c.593A>C (p.Tyr198Ser)
Xg.21978911A>GCA412569045SMSc.695A>G (p.Tyr232Cys)
c.536A>G (p.Tyr179Cys)
c.593A>G (p.Tyr198Cys)
Xg.21978911A>TCA412569044SMSc.695A>T (p.Tyr232Phe)
c.536A>T (p.Tyr179Phe)
c.593A>T (p.Tyr198Phe)
Xg.21978912C>ACA412569047SMSc.696C>A (p.Tyr232Ter)
c.537C>A (p.Tyr179Ter)
c.594C>A (p.Tyr198Ter)
Xg.21978912C=CA2419127577SMSc.696C= (p.Tyr232=)
c.537C= (p.Tyr179=)
c.594C= (p.Tyr198=)
Xg.21978912C>GCA412569048SMSc.696C>G (p.Tyr232Ter)
c.537C>G (p.Tyr179Ter)
c.594C>G (p.Tyr198Ter)
Xg.21978912C>TCA10367836SMSc.696C>T (p.Tyr232=)
c.537C>T (p.Tyr179=)
c.594C>T (p.Tyr198=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.21978913A>CCA412569049SMSc.697A>C (p.Met233Leu)
c.538A>C (p.Met180Leu)
c.595A>C (p.Met199Leu)
Xg.21978913A>GCA412569050SMSc.697A>G (p.Met233Val)
c.538A>G (p.Met180Val)
c.595A>G (p.Met199Val)
 ClinVar
Xg.21978913A>TCA412569051SMSc.697A>T (p.Met233Leu)
c.538A>T (p.Met180Leu)
c.595A>T (p.Met199Leu)
Xg.21978914T>ACA412569052SMSc.698T>A (p.Met233Lys)
c.539T>A (p.Met180Lys)
c.596T>A (p.Met199Lys)
Xg.21978914T>CCA412569053SMSc.698T>C (p.Met233Thr)
c.539T>C (p.Met180Thr)
c.596T>C (p.Met199Thr)
 ClinVar
Xg.21978914T>GCA412569054SMSc.698T>G (p.Met233Arg)
c.539T>G (p.Met180Arg)
c.596T>G (p.Met199Arg)
Xg.21978915G>ACA247199SMSc.699G>A (p.Met233Ile)
c.540G>A (p.Met180Ile)
c.597G>A (p.Met199Ile)
 ClinVar dbSNP
Xg.21978915G>CCA412569055SMSc.699G>C (p.Met233Ile)
c.540G>C (p.Met180Ile)
c.597G>C (p.Met199Ile)
Xg.21978915G=CA2419127578SMSc.699G= (p.Met233=)
c.540G= (p.Met180=)
c.597G= (p.Met199=)
Xg.21978915G>TCA412569056SMSc.699G>T (p.Met233Ile)
c.540G>T (p.Met180Ile)
c.597G>T (p.Met199Ile)
Xg.21978916C>ACA515423579SMSc.700C>A (p.Arg234=)
c.541C>A (p.Arg181=)
c.598C>A (p.Arg200=)
 gnomAD v4
Xg.21978916C>GCA412569057SMSc.700C>G (p.Arg234Gly)
c.541C>G (p.Arg181Gly)
c.598C>G (p.Arg200Gly)
Xg.21978916C>TCA412569058SMSc.700C>T (p.Arg234Ter)
c.541C>T (p.Arg181Ter)
c.598C>T (p.Arg200Ter)
 ClinVar
Xg.21978917G>ACA412569060SMSc.701G>A (p.Arg234Gln)
c.542G>A (p.Arg181Gln)
c.599G>A (p.Arg200Gln)
Xg.21978917G>CCA412569061SMSc.701G>C (p.Arg234Pro)
c.542G>C (p.Arg181Pro)
c.599G>C (p.Arg200Pro)
Xg.21978917G>TCA412569059SMSc.701G>T (p.Arg234Leu)
c.542G>T (p.Arg181Leu)
c.599G>T (p.Arg200Leu)
Xg.21978918A>CCA515423580SMSc.702A>C (p.Arg234=)
c.543A>C (p.Arg181=)
c.600A>C (p.Arg200=)
Xg.21978918A>GCA515423581SMSc.702A>G (p.Arg234=)
c.543A>G (p.Arg181=)
c.600A>G (p.Arg200=)
Xg.21978918A>TCA515423582SMSc.702A>T (p.Arg234=)
c.543A>T (p.Arg181=)
c.600A>T (p.Arg200=)
Xg.21978922delCA2693299832SMSc.706del (p.Thr236ArgfsTer6)
c.547del (p.Thr183ArgfsTer6)
c.604del (p.Thr202ArgfsTer6)
 gnomAD v4
Xg.21978919A>CCA412569062SMSc.703A>C (p.Lys235Gln)
c.544A>C (p.Lys182Gln)
c.601A>C (p.Lys201Gln)
Xg.21978919A>GCA412569063SMSc.703A>G (p.Lys235Glu)
c.544A>G (p.Lys182Glu)
c.601A>G (p.Lys201Glu)
Xg.21978919A>TCA412569064SMSc.703A>T (p.Lys235Ter)
c.544A>T (p.Lys182Ter)
c.601A>T (p.Lys201Ter)
Xg.21978920A>CCA412569065SMSc.704A>C (p.Lys235Thr)
c.545A>C (p.Lys182Thr)
c.602A>C (p.Lys201Thr)
Xg.21978920A>GCA412569066SMSc.704A>G (p.Lys235Arg)
c.545A>G (p.Lys182Arg)
c.602A>G (p.Lys201Arg)
Xg.21978920A>TCA412569067SMSc.704A>T (p.Lys235Ile)
c.545A>T (p.Lys182Ile)
c.602A>T (p.Lys201Ile)
Xg.21978921A>CCA412569068SMSc.705A>C (p.Lys235Asn)
c.546A>C (p.Lys182Asn)
c.603A>C (p.Lys201Asn)
Xg.21978921A>GCA515423583SMSc.705A>G (p.Lys235=)
c.546A>G (p.Lys182=)
c.603A>G (p.Lys201=)
Xg.21978921A>TCA412569069SMSc.705A>T (p.Lys235Asn)
c.546A>T (p.Lys182Asn)
c.603A>T (p.Lys201Asn)
Xg.21978922A>CCA412569070SMSc.706A>C (p.Thr236Pro)
c.547A>C (p.Thr183Pro)
c.604A>C (p.Thr202Pro)
Xg.21978922A>GCA412569071SMSc.706A>G (p.Thr236Ala)
c.547A>G (p.Thr183Ala)
c.604A>G (p.Thr202Ala)
Xg.21978922A>TCA412569072SMSc.706A>T (p.Thr236Ser)
c.547A>T (p.Thr183Ser)
c.604A>T (p.Thr202Ser)
Xg.21978923C>ACA412569075SMSc.707C>A (p.Thr236Lys)
c.548C>A (p.Thr183Lys)
c.605C>A (p.Thr202Lys)
Xg.21978923C>GCA412569074SMSc.707C>G (p.Thr236Arg)
c.548C>G (p.Thr183Arg)
c.605C>G (p.Thr202Arg)
Xg.21978923C>TCA412569073SMSc.707C>T (p.Thr236Met)
c.548C>T (p.Thr183Met)
c.605C>T (p.Thr202Met)
Xg.21978924G>ACA10367837SMSc.708G>A (p.Thr236=)
c.549G>A (p.Thr183=)
c.606G>A (p.Thr202=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.21978924G>CCA515423584SMSc.708G>C (p.Thr236=)
c.549G>C (p.Thr183=)
c.606G>C (p.Thr202=)
Xg.21978924G=CA2419127579SMSc.708G= (p.Thr236=)
c.549G= (p.Thr183=)
c.606G= (p.Thr202=)
Xg.21978924G>TCA515423585SMSc.708G>T (p.Thr236=)
c.549G>T (p.Thr183=)
c.606G>T (p.Thr202=)
Xg.21978925T>ACA412569076SMSc.709T>A (p.Cys237Ser)
c.550T>A (p.Cys184Ser)
c.607T>A (p.Cys203Ser)
Xg.21978925T>CCA412569077SMSc.709T>C (p.Cys237Arg)
c.550T>C (p.Cys184Arg)
c.607T>C (p.Cys203Arg)
Xg.21978925T>GCA412569078SMSc.709T>G (p.Cys237Gly)
c.550T>G (p.Cys184Gly)
c.607T>G (p.Cys203Gly)
Xg.21978926G>ACA412569079SMSc.710G>A (p.Cys237Tyr)
c.551G>A (p.Cys184Tyr)
c.608G>A (p.Cys203Tyr)
 gnomAD v4
Xg.21978926G>CCA412569080SMSc.710G>C (p.Cys237Ser)
c.551G>C (p.Cys184Ser)
c.608G>C (p.Cys203Ser)
Xg.21978926G>TCA412569081SMSc.710G>T (p.Cys237Phe)
c.551G>T (p.Cys184Phe)
c.608G>T (p.Cys203Phe)
Xg.21978927T>ACA412569082SMSc.711T>A (p.Cys237Ter)
c.552T>A (p.Cys184Ter)
c.609T>A (p.Cys203Ter)
Xg.21978927T>CCA515423586SMSc.711T>C (p.Cys237=)
c.552T>C (p.Cys184=)
c.609T>C (p.Cys203=)
 gnomAD v4
Xg.21978927T>GCA412569083SMSc.711T>G (p.Cys237Trp)
c.552T>G (p.Cys184Trp)
c.609T>G (p.Cys203Trp)
Xg.21978928G>ACA412569084SMSc.712G>A (p.Gly238Ser)
c.553G>A (p.Gly185Ser)
c.610G>A (p.Gly204Ser)
Xg.21978928G>CCA412569085SMSc.712G>C (p.Gly238Arg)
c.553G>C (p.Gly185Arg)
c.610G>C (p.Gly204Arg)
Xg.21978928G>TCA412569086SMSc.712G>T (p.Gly238Cys)
c.553G>T (p.Gly185Cys)
c.610G>T (p.Gly204Cys)
Xg.21978929G>ACA412569087SMSc.713G>A (p.Gly238Asp)
c.554G>A (p.Gly185Asp)
c.611G>A (p.Gly204Asp)
Xg.21978929G>CCA412569089SMSc.713G>C (p.Gly238Ala)
c.554G>C (p.Gly185Ala)
c.611G>C (p.Gly204Ala)
Xg.21978929G>TCA412569088SMSc.713G>T (p.Gly238Val)
c.554G>T (p.Gly185Val)
c.611G>T (p.Gly204Val)
Xg.21978930C>ACA515423587SMSc.714C>A (p.Gly238=)
c.555C>A (p.Gly185=)
c.612C>A (p.Gly204=)
Xg.21978930C=CA2419127580SMSc.714C= (p.Gly238=)
c.555C= (p.Gly185=)
c.612C= (p.Gly204=)
Xg.21978930C>GCA515423588SMSc.714C>G (p.Gly238=)
c.555C>G (p.Gly185=)
c.612C>G (p.Gly204=)
Xg.21978930C>TCA208104SMSc.714C>T (p.Gly238=)
c.555C>T (p.Gly185=)
c.612C>T (p.Gly204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.21978931G>ACA10367838SMSc.715G>A (p.Asp239Asn)
c.556G>A (p.Asp186Asn)
c.613G>A (p.Asp205Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.21978931G>CCA412569090SMSc.715G>C (p.Asp239His)
c.556G>C (p.Asp186His)
c.613G>C (p.Asp205His)
Xg.21978931G=CA2419127581SMSc.715G= (p.Asp239=)
c.556G= (p.Asp186=)
c.613G= (p.Asp205=)
Xg.21978931G>TCA412569091SMSc.715G>T (p.Asp239Tyr)
c.556G>T (p.Asp186Tyr)
c.613G>T (p.Asp205Tyr)
 COSMIC COSMIC
Xg.21978932A>CCA412569092SMSc.716A>C (p.Asp239Ala)
c.557A>C (p.Asp186Ala)
c.614A>C (p.Asp205Ala)
Xg.21978932A>GCA412569094SMSc.716A>G (p.Asp239Gly)
c.557A>G (p.Asp186Gly)
c.614A>G (p.Asp205Gly)
Xg.21978932A>TCA412569093SMSc.716A>T (p.Asp239Val)
c.557A>T (p.Asp186Val)
c.614A>T (p.Asp205Val)
Xg.21978933T>ACA412569095SMSc.717T>A (p.Asp239Glu)
c.558T>A (p.Asp186Glu)
c.615T>A (p.Asp205Glu)
Xg.21978933T>CCA515423589SMSc.717T>C (p.Asp239=)
c.558T>C (p.Asp186=)
c.615T>C (p.Asp205=)
Xg.21978933T>GCA412569096SMSc.717T>G (p.Asp239Glu)
c.558T>G (p.Asp186Glu)
c.615T>G (p.Asp205Glu)
Xg.21978934G>ACA412569097SMSc.718G>A (p.Val240Ile)
c.559G>A (p.Val187Ile)
c.616G>A (p.Val206Ile)
Xg.21978934G>CCA412569098SMSc.718G>C (p.Val240Leu)
c.559G>C (p.Val187Leu)
c.616G>C (p.Val206Leu)
 gnomAD v4
Xg.21978934G>TCA412569099SMSc.718G>T (p.Val240Phe)
c.559G>T (p.Val187Phe)
c.616G>T (p.Val206Phe)
Xg.21978935T>ACA412569100SMSc.719T>A (p.Val240Asp)
c.560T>A (p.Val187Asp)
c.617T>A (p.Val206Asp)
Xg.21978935T>CCA412569101SMSc.719T>C (p.Val240Ala)
c.560T>C (p.Val187Ala)
c.617T>C (p.Val206Ala)
Xg.21978935T>GCA412569102SMSc.719T>G (p.Val240Gly)
c.560T>G (p.Val187Gly)
c.617T>G (p.Val206Gly)
Xg.21978936delCA2579571582SMSc.720del (p.Leu241Ter)
c.561del (p.Leu188Ter)
c.618del (p.Leu207Ter)
Xg.21978936C>ACA515423590SMSc.720C>A (p.Val240=)
c.561C>A (p.Val187=)
c.618C>A (p.Val206=)
 gnomAD v4
Xg.21978936C>GCA515423591SMSc.720C>G (p.Val240=)
c.561C>G (p.Val187=)
c.618C>G (p.Val206=)
Xg.21978936C>TCA515423592SMSc.720C>T (p.Val240=)
c.561C>T (p.Val187=)
c.618C>T (p.Val206=)
Xg.21978937T>ACA412569103SMSc.721T>A (p.Leu241Ile)
c.562T>A (p.Leu188Ile)
c.619T>A (p.Leu207Ile)
Xg.21978937T>CCA515423593SMSc.721T>C (p.Leu241=)
c.562T>C (p.Leu188=)
c.619T>C (p.Leu207=)
 gnomAD v4
Xg.21978937T>GCA412569104SMSc.721T>G (p.Leu241Val)
c.562T>G (p.Leu188Val)
c.619T>G (p.Leu207Val)
Xg.21978938T>ACA412569105SMSc.722T>A (p.Leu241Ter)
c.563T>A (p.Leu188Ter)
c.620T>A (p.Leu207Ter)
Xg.21978938T>CCA412569106SMSc.722T>C (p.Leu241Ser)
c.563T>C (p.Leu188Ser)
c.620T>C (p.Leu207Ser)
Xg.21978938T>GCA412569107SMSc.722T>G (p.Leu241Ter)
c.563T>G (p.Leu188Ter)
c.620T>G (p.Leu207Ter)
Xg.21978939A>CCA412569108SMSc.723A>C (p.Leu241Phe)
c.564A>C (p.Leu188Phe)
c.621A>C (p.Leu207Phe)
Xg.21978939A>GCA515423594SMSc.723A>G (p.Leu241=)
c.564A>G (p.Leu188=)
c.621A>G (p.Leu207=)
Xg.21978939A>TCA412569109SMSc.723A>T (p.Leu241Phe)
c.564A>T (p.Leu188Phe)
c.621A>T (p.Leu207Phe)
Xg.21978940_21978941delCA2579571583SMSc.724_725del (p.Asp242GlnfsTer3)
c.565_566del (p.Asp189GlnfsTer3)
c.622_623del (p.Asp208GlnfsTer3)
Xg.21978940G>ACA412569110SMSc.724G>A (p.Asp242Asn)
c.565G>A (p.Asp189Asn)
c.622G>A (p.Asp208Asn)
Xg.21978940G>CCA412569111SMSc.724G>C (p.Asp242His)
c.565G>C (p.Asp189His)
c.622G>C (p.Asp208His)
 COSMIC COSMIC
Xg.21978940G>TCA412569112SMSc.724G>T (p.Asp242Tyr)
c.565G>T (p.Asp189Tyr)
c.622G>T (p.Asp208Tyr)
Xg.21978941A>CCA412569113SMSc.725A>C (p.Asp242Ala)
c.566A>C (p.Asp189Ala)
c.623A>C (p.Asp208Ala)
Xg.21978941A>GCA412569114SMSc.725A>G (p.Asp242Gly)
c.566A>G (p.Asp189Gly)
c.623A>G (p.Asp208Gly)
Xg.21978941A>TCA412569115SMSc.725A>T (p.Asp242Val)
c.566A>T (p.Asp189Val)
c.623A>T (p.Asp208Val)
Xg.21978942C>ACA412569116SMSc.726C>A (p.Asp242Glu)
c.567C>A (p.Asp189Glu)
c.624C>A (p.Asp208Glu)
Xg.21978942C>GCA412569117SMSc.726C>G (p.Asp242Glu)
c.567C>G (p.Asp189Glu)
c.624C>G (p.Asp208Glu)
Xg.21978942C>TCA515423595SMSc.726C>T (p.Asp242=)
c.567C>T (p.Asp189=)
c.624C>T (p.Asp208=)
Xg.21978943A>CCA412569118SMSc.727A>C (p.Asn243His)
c.568A>C (p.Asn190His)
c.625A>C (p.Asn209His)
Xg.21978943A>GCA412569119SMSc.727A>G (p.Asn243Asp)
c.568A>G (p.Asn190Asp)
c.625A>G (p.Asn209Asp)
 gnomAD v4
Xg.21978943A>TCA412569120SMSc.727A>T (p.Asn243Tyr)
c.568A>T (p.Asn190Tyr)
c.625A>T (p.Asn209Tyr)
Xg.21978944A>CCA412569123SMSc.728A>C (p.Asn243Thr)
c.569A>C (p.Asn190Thr)
c.626A>C (p.Asn209Thr)
Xg.21978944A>GCA412569122SMSc.728A>G (p.Asn243Ser)
c.569A>G (p.Asn190Ser)
c.626A>G (p.Asn209Ser)
Xg.21978944A>TCA412569121SMSc.728A>T (p.Asn243Ile)
c.569A>T (p.Asn190Ile)
c.626A>T (p.Asn209Ile)
Xg.21978945T>ACA412569124SMSc.729T>A (p.Asn243Lys)
c.570T>A (p.Asn190Lys)
c.627T>A (p.Asn209Lys)
 dbSNP gnomAD v2 gnomAD v4
Xg.21978945T>CCA515423596SMSc.729T>C (p.Asn243=)
c.570T>C (p.Asn190=)
c.627T>C (p.Asn209=)
 dbSNP gnomAD v3 gnomAD v4
Xg.21978945T>GCA412569125SMSc.729T>G (p.Asn243Lys)
c.570T>G (p.Asn190Lys)
c.627T>G (p.Asn209Lys)
Xg.21978945T=CA2419127582SMSc.729T= (p.Asn243=)
c.570T= (p.Asn190=)
c.627T= (p.Asn209=)
Xg.21978946C>ACA10367839SMSc.730C>A (p.Leu244Ile)
c.571C>A (p.Leu191Ile)
c.628C>A (p.Leu210Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.21978946C=CA2419127583SMSc.730C= (p.Leu244=)
c.571C= (p.Leu191=)
c.628C= (p.Leu210=)
Xg.21978946C>GCA412569126SMSc.730C>G (p.Leu244Val)
c.571C>G (p.Leu191Val)
c.628C>G (p.Leu210Val)
Xg.21978946C>TCA412569127SMSc.730C>T (p.Leu244Phe)
c.571C>T (p.Leu191Phe)
c.628C>T (p.Leu210Phe)
Xg.21978947T>ACA412569128SMSc.731T>A (p.Leu244His)
c.572T>A (p.Leu191His)
c.629T>A (p.Leu210His)
Xg.21978947T>CCA412569129SMSc.731T>C (p.Leu244Pro)
c.572T>C (p.Leu191Pro)
c.629T>C (p.Leu210Pro)
Xg.21978947T>GCA412569130SMSc.731T>G (p.Leu244Arg)
c.572T>G (p.Leu191Arg)
c.629T>G (p.Leu210Arg)
Xg.21978948T>ACA515423598SMSc.732T>A (p.Leu244=)
c.573T>A (p.Leu191=)
c.630T>A (p.Leu210=)
Xg.21978948T>CCA515423599SMSc.732T>C (p.Leu244=)
c.573T>C (p.Leu191=)
c.630T>C (p.Leu210=)
 gnomAD v4
Xg.21978948T>GCA515423597SMSc.732T>G (p.Leu244=)
c.573T>G (p.Leu191=)
c.630T>G (p.Leu210=)
Xg.21978949A=CA2419127584SMSc.733A= (p.Lys245=)
c.574A= (p.Lys192=)
c.631A= (p.Lys211=)
Xg.21978949A>CCA412569131SMSc.733A>C (p.Lys245Gln)
c.574A>C (p.Lys192Gln)
c.631A>C (p.Lys211Gln)
Xg.21978949A>GCA412569132SMSc.733A>G (p.Lys245Glu)
c.574A>G (p.Lys192Glu)
c.631A>G (p.Lys211Glu)
 dbSNP gnomAD v4
Xg.21978949A>TCA412569133SMSc.733A>T (p.Lys245Ter)
c.574A>T (p.Lys192Ter)
c.631A>T (p.Lys211Ter)
Xg.21978951delCA2579571584SMSc.735del (p.Gly246GlufsTer7)
c.576del (p.Gly193GlufsTer7)
c.633del (p.Gly212GlufsTer7)
 gnomAD v4
Xg.21978950A>CCA412569134SMSc.734A>C (p.Lys245Thr)
c.575A>C (p.Lys192Thr)
c.632A>C (p.Lys211Thr)
Xg.21978950A>GCA412569135SMSc.734A>G (p.Lys245Arg)
c.575A>G (p.Lys192Arg)
c.632A>G (p.Lys211Arg)
Xg.21978950A>TCA412569136SMSc.734A>T (p.Lys245Ile)
c.575A>T (p.Lys192Ile)
c.632A>T (p.Lys211Ile)
Xg.21978951A=CA2419127585SMSc.735A= (p.Lys245=)
c.576A= (p.Lys192=)
c.633A= (p.Lys211=)
Xg.21978951A>CCA412569137SMSc.735A>C (p.Lys245Asn)
c.576A>C (p.Lys192Asn)
c.633A>C (p.Lys211Asn)
Xg.21978951A>GCA515423600SMSc.735A>G (p.Lys245=)
c.576A>G (p.Lys192=)
c.633A>G (p.Lys211=)
Xg.21978951A>TCA327512569SMSc.735A>T (p.Lys245Asn)
c.576A>T (p.Lys192Asn)
c.633A>T (p.Lys211Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.21978952G>ACA412569138SMSc.736G>A (p.Gly246Arg)
c.577G>A (p.Gly193Arg)
c.634G>A (p.Gly212Arg)
Xg.21978952G>CCA412569139SMSc.736G>C (p.Gly246Arg)
c.577G>C (p.Gly193Arg)
c.634G>C (p.Gly212Arg)
Xg.21978952G>TCA412569140SMSc.736G>T (p.Gly246Ter)
c.577G>T (p.Gly193Ter)
c.634G>T (p.Gly212Ter)
Xg.21978953delCA2579571585SMSc.737del (p.Gly246GlufsTer7)
c.578del (p.Gly193GlufsTer7)
c.635del (p.Gly212GlufsTer7)
Xg.21978953G>ACA412569141SMSc.737G>A (p.Gly246Glu)
c.578G>A (p.Gly193Glu)
c.635G>A (p.Gly212Glu)
 gnomAD v4
Xg.21978953G>CCA412569142SMSc.737G>C (p.Gly246Ala)
c.578G>C (p.Gly193Ala)
c.635G>C (p.Gly212Ala)
Xg.21978953G>TCA412569143SMSc.737G>T (p.Gly246Val)
c.578G>T (p.Gly193Val)
c.635G>T (p.Gly212Val)
Xg.21978954delCA2579571586SMSc.738del (p.Asp247ThrfsTer6)
c.579del (p.Asp194ThrfsTer6)
c.636del (p.Asp213ThrfsTer6)
Xg.21978954A>CCA515423601SMSc.738A>C (p.Gly246=)
c.579A>C (p.Gly193=)
c.636A>C (p.Gly212=)
Xg.21978954A>GCA515423602SMSc.738A>G (p.Gly246=)
c.579A>G (p.Gly193=)
c.636A>G (p.Gly212=)
 gnomAD v4
Xg.21978954A>TCA515423603SMSc.738A>T (p.Gly246=)
c.579A>T (p.Gly193=)
c.636A>T (p.Gly212=)
Xg.21978955G>ACA412569144SMSc.739G>A (p.Asp247Asn)
c.580G>A (p.Asp194Asn)
c.637G>A (p.Asp213Asn)
 gnomAD v4
Xg.21978955G>CCA412569145SMSc.739G>C (p.Asp247His)
c.580G>C (p.Asp194His)
c.637G>C (p.Asp213His)
Xg.21978955G>TCA412569146SMSc.739G>T (p.Asp247Tyr)
c.580G>T (p.Asp194Tyr)
c.637G>T (p.Asp213Tyr)
Xg.21978956A>CCA412569147SMSc.740A>C (p.Asp247Ala)
c.581A>C (p.Asp194Ala)
c.638A>C (p.Asp213Ala)
Xg.21978956A>GCA412569148SMSc.740A>G (p.Asp247Gly)
c.581A>G (p.Asp194Gly)
c.638A>G (p.Asp213Gly)
 gnomAD v4
Xg.21978956A>TCA412569149SMSc.740A>T (p.Asp247Val)
c.581A>T (p.Asp194Val)
c.638A>T (p.Asp213Val)
Xg.21978957C>ACA412569150SMSc.741C>A (p.Asp247Glu)
c.582C>A (p.Asp194Glu)
c.639C>A (p.Asp213Glu)
 gnomAD v4
Xg.21978957C=CA2419127586SMSc.741C= (p.Asp247=)
c.582C= (p.Asp194=)
c.639C= (p.Asp213=)
Xg.21978957C>GCA327512570SMSc.741C>G (p.Asp247Glu)
c.582C>G (p.Asp194Glu)
c.639C>G (p.Asp213Glu)
 ClinVar dbSNP gnomAD v4
Xg.21978957C>TCA515423604SMSc.741C>T (p.Asp247=)
c.582C>T (p.Asp194=)
c.639C>T (p.Asp213=)
 dbSNP gnomAD v4
Xg.21978958T>ACA412569151SMSc.742T>A (p.Cys248Ser)
c.583T>A (p.Cys195Ser)
c.640T>A (p.Cys214Ser)
Xg.21978958T>CCA412569153SMSc.742T>C (p.Cys248Arg)
c.583T>C (p.Cys195Arg)
c.640T>C (p.Cys214Arg)
 gnomAD v4
Xg.21978958T>GCA412569152SMSc.742T>G (p.Cys248Gly)
c.583T>G (p.Cys195Gly)
c.640T>G (p.Cys214Gly)
 ClinVar
Xg.21978959G>ACA412569154SMSc.743G>A (p.Cys248Tyr)
c.584G>A (p.Cys195Tyr)
c.641G>A (p.Cys214Tyr)
 gnomAD v4
Xg.21978959G>CCA412569155SMSc.743G>C (p.Cys248Ser)
c.584G>C (p.Cys195Ser)
c.641G>C (p.Cys214Ser)
Xg.21978959G>TCA412569156SMSc.743G>T (p.Cys248Phe)
c.584G>T (p.Cys195Phe)
c.641G>T (p.Cys214Phe)
Xg.21978960C>ACA412569157SMSc.744C>A (p.Cys248Ter)
c.585C>A (p.Cys195Ter)
c.642C>A (p.Cys214Ter)
 gnomAD v4
Xg.21978960C>GCA412569158SMSc.744C>G (p.Cys248Trp)
c.585C>G (p.Cys195Trp)
c.642C>G (p.Cys214Trp)
Xg.21978960C>TCA515423605SMSc.744C>T (p.Cys248=)
c.585C>T (p.Cys195=)
c.642C>T (p.Cys214=)
 gnomAD v4
Xg.21978961T>ACA412569159SMSc.745T>A (p.Tyr249Asn)
c.586T>A (p.Tyr196Asn)
c.643T>A (p.Tyr215Asn)
Xg.21978961T>CCA412569160SMSc.745T>C (p.Tyr249His)
c.586T>C (p.Tyr196His)
c.643T>C (p.Tyr215His)
 gnomAD v4
Xg.21978961T>GCA412569161SMSc.745T>G (p.Tyr249Asp)
c.586T>G (p.Tyr196Asp)
c.643T>G (p.Tyr215Asp)
Xg.21978962A>CCA412569162SMSc.746A>C (p.Tyr249Ser)
c.587A>C (p.Tyr196Ser)
c.644A>C (p.Tyr215Ser)
Xg.21978962A>GCA412569163SMSc.746A>G (p.Tyr249Cys)
c.587A>G (p.Tyr196Cys)
c.644A>G (p.Tyr215Cys)
 ClinVar dbSNP gnomAD v4
Xg.21978962A>TCA412569164SMSc.746A>T (p.Tyr249Phe)
c.587A>T (p.Tyr196Phe)
c.644A>T (p.Tyr215Phe)
Xg.21978963T>ACA412569165SMSc.747T>A (p.Tyr249Ter)
c.588T>A (p.Tyr196Ter)
c.645T>A (p.Tyr215Ter)
 gnomAD v4
Xg.21978963T>CCA515423606SMSc.747T>C (p.Tyr249=)
c.588T>C (p.Tyr196=)
c.645T>C (p.Tyr215=)
 gnomAD v4
Xg.21978963T>GCA412569166SMSc.747T>G (p.Tyr249Ter)
c.588T>G (p.Tyr196Ter)
c.645T>G (p.Tyr215Ter)
Xg.21978964C>ACA412569167SMSc.748C>A (p.Gln250Lys)
c.589C>A (p.Gln197Lys)
c.646C>A (p.Gln216Lys)
 gnomAD v4
Xg.21978964C>GCA412569169SMSc.748C>G (p.Gln250Glu)
c.589C>G (p.Gln197Glu)
c.646C>G (p.Gln216Glu)
Xg.21978964C>TCA412569168SMSc.748C>T (p.Gln250Ter)
c.589C>T (p.Gln197Ter)
c.646C>T (p.Gln216Ter)
 COSMIC COSMIC
Xg.21978965A=CA2419127587SMSc.749A= (p.Gln250=)
c.590A= (p.Gln197=)
c.647A= (p.Gln216=)
Xg.21978965A>CCA412569170SMSc.749A>C (p.Gln250Pro)
c.590A>C (p.Gln197Pro)
c.647A>C (p.Gln216Pro)
 COSMIC COSMIC
Xg.21978965A>GCA10367840SMSc.749A>G (p.Gln250Arg)
c.590A>G (p.Gln197Arg)
c.647A>G (p.Gln216Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.21978965A>TCA412569171SMSc.749A>T (p.Gln250Leu)
c.590A>T (p.Gln197Leu)
c.647A>T (p.Gln216Leu)
Xg.21978966G>ACA515423607SMSc.750G>A (p.Gln250=)
c.591G>A (p.Gln197=)
c.648G>A (p.Gln216=)
 gnomAD v4
Xg.21978966G>CCA412569172SMSc.750G>C (p.Gln250His)
c.591G>C (p.Gln197His)
c.648G>C (p.Gln216His)
Xg.21978966G>TCA412569173SMSc.750G>T (p.Gln250His)
c.591G>T (p.Gln197His)
c.648G>T (p.Gln216His)
Xg.21978967G>ACA412569174SMSc.750+1G>A (n.750+1G>A)
c.591+1G>A (n.591+1G>A)
c.648+1G>A (n.648+1G>A)
Xg.21978967G>CCA412569175SMSc.750+1G>C (n.750+1G>C)
c.591+1G>C (n.591+1G>C)
c.648+1G>C (n.648+1G>C)
Xg.21978967G>TCA412569176SMSc.750+1G>T (n.750+1G>T)
c.591+1G>T (n.591+1G>T)
c.648+1G>T (n.648+1G>T)
Xg.21978968T>ACA412569177SMSc.750+2T>A (n.750+2T>A)
c.591+2T>A (n.591+2T>A)
c.648+2T>A (n.648+2T>A)
Xg.21978968T>CCA412569178SMSc.750+2T>C (n.750+2T>C)
c.591+2T>C (n.591+2T>C)
c.648+2T>C (n.648+2T>C)
 gnomAD v4
Xg.21978968T>GCA412569179SMSc.750+2T>G (n.750+2T>G)
c.591+2T>G (n.591+2T>G)
c.648+2T>G (n.648+2T>G)
Xg.21978969A>GCA2693299876SMSc.750+3A>G (n.750+3A>G)
c.591+3A>G (n.591+3A>G)
c.648+3A>G (n.648+3A>G)
 gnomAD v4
Xg.21978970delCA2579571587SMSc.750+4del (n.750+4del)
c.591+4del (n.591+4del)
c.648+4del (n.648+4del)
Xg.21978970A>GCA2820014085SMSc.750+4A>G (n.750+4A>G)
c.591+4A>G (n.591+4A>G)
c.648+4A>G (n.648+4A>G)
Xg.21978971T>CCA2693299877SMSc.750+5T>C (n.750+5T>C)
c.591+5T>C (n.591+5T>C)
c.648+5T>C (n.648+5T>C)
 gnomAD v4
Xg.21978972T>ACA640407118SMSc.750+6T>A (n.750+6T>A)
c.591+6T>A (n.591+6T>A)
c.648+6T>A (n.648+6T>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.21978972T=CA2419127588SMSc.750+6T= (n.750+6T=)
c.591+6T= (n.591+6T=)
c.648+6T= (n.648+6T=)
Xg.21978973G>CCA327512571SMSc.750+7G>C (n.750+7G>C)
c.591+7G>C (n.591+7G>C)
c.648+7G>C (n.648+7G>C)
 dbSNP
Xg.21978973G=CA2419127589SMSc.750+7G= (n.750+7G=)
c.591+7G= (n.591+7G=)
c.648+7G= (n.648+7G=)
Xg.21978975T>CCA2693299878SMSc.750+9T>C (n.750+9T>C)
c.591+9T>C (n.591+9T>C)
c.648+9T>C (n.648+9T>C)
 gnomAD v4
Xg.21978975T>GCA2693299879SMSc.750+9T>G (n.750+9T>G)
c.591+9T>G (n.591+9T>G)
c.648+9T>G (n.648+9T>G)
 gnomAD v4
Xg.21978976T>CCA2693299880SMSc.750+10T>C (n.750+10T>C)
c.591+10T>C (n.591+10T>C)
c.648+10T>C (n.648+10T>C)
 gnomAD v4
Xg.21978977T>CCA2693299881SMSc.750+11T>C (n.750+11T>C)
c.591+11T>C (n.591+11T>C)
c.648+11T>C (n.648+11T>C)
 gnomAD v4
Xg.21978978C>ACA2529002077SMSc.750+12C>A (n.750+12C>A)
c.591+12C>A (n.591+12C>A)
c.648+12C>A (n.648+12C>A)
 gnomAD v4
Xg.21978978C=CA2419127590SMSc.750+12C= (n.750+12C=)
c.591+12C= (n.591+12C=)
c.648+12C= (n.648+12C=)
Xg.21978978C>GCA10367841SMSc.750+12C>G (n.750+12C>G)
c.591+12C>G (n.591+12C>G)
c.648+12C>G (n.648+12C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.21978978C>TCA2693299882SMSc.750+12C>T (n.750+12C>T)
c.591+12C>T (n.591+12C>T)
c.648+12C>T (n.648+12C>T)
 gnomAD v4
Xg.21978979T>CCA2693299883SMSc.750+13T>C (n.750+13T>C)
c.591+13T>C (n.591+13T>C)
c.648+13T>C (n.648+13T>C)
 gnomAD v4
Xg.21978981G>ACA2693299884SMSc.750+15G>A (n.750+15G>A)
c.591+15G>A (n.591+15G>A)
c.648+15G>A (n.648+15G>A)
 gnomAD v4

Number of alleles fetched