Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153870754G>TCA2695068765L1CAMc.694+36C>A (n.694+36C>A)
c.679+36C>A (n.679+36C>A)
 gnomAD v4
Xg.153870756G>ACA337263721L1CAMc.694+34C>T (n.694+34C>T)
c.679+34C>T (n.679+34C>T)
 dbSNP
Xg.153870756G>CCA2695068766L1CAMc.694+34C>G (n.694+34C>G)
c.679+34C>G (n.679+34C>G)
 gnomAD v4
Xg.153870756G=CA2466507279L1CAMc.694+34C= (n.694+34C=)
c.679+34C= (n.679+34C=)
Xg.153870756G>TCA2695068767L1CAMc.694+34C>A (n.694+34C>A)
c.679+34C>A (n.679+34C>A)
 gnomAD v4
Xg.153870757_153870770delinsTCAGGGAGAGAGTGCA2466507280L1CAMc.694+20_694+33delinsCACTCTCTCCCTGA (n.694+20_694+33delinsCACTCTCTCCCTGA)
c.679+20_679+33delinsCACTCTCTCCCTGA (n.679+20_679+33delinsCACTCTCTCCCTGA)
Xg.153870758C>TCA2579733043L1CAMc.694+32G>A (n.694+32G>A)
c.679+32G>A (n.679+32G>A)
Xg.153870761_153870773delCA10554532L1CAMc.694+20_694+32del (n.694+20_694+32del)
c.679+20_679+32del (n.679+20_679+32del)
 ClinVar dbSNP ExAC gnomAD v4
Xg.153870761G>ACA10554533L1CAMc.694+29C>T (n.694+29C>T)
c.679+29C>T (n.679+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870761G=CA2466507281L1CAMc.694+29C= (n.694+29C=)
c.679+29C= (n.679+29C=)
Xg.153870762G>ACA2579733044L1CAMc.694+28C>T (n.694+28C>T)
c.679+28C>T (n.679+28C>T)
 gnomAD v4
Xg.153870767_153870768delCA2695068768L1CAMc.694+27_694+28del (n.694+27_694+28del)
c.679+27_679+28del (n.679+27_679+28del)
 gnomAD v4
Xg.153870763A=CA2466507282L1CAMc.694+27T= (n.694+27T=)
c.679+27T= (n.679+27T=)
Xg.153870763A>GCA645152432L1CAMc.694+27T>C (n.694+27T>C)
c.679+27T>C (n.679+27T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870764G>ACA10554534L1CAMc.694+26C>T (n.694+26C>T)
c.679+26C>T (n.679+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870764G=CA2466507283L1CAMc.694+26C= (n.694+26C=)
c.679+26C= (n.679+26C=)
Xg.153870764G>TCA2579733045L1CAMc.694+26C>A (n.694+26C>A)
c.679+26C>A (n.679+26C>A)
Xg.153870767A>GCA2695068769L1CAMc.694+23T>C (n.694+23T>C)
c.679+23T>C (n.679+23T>C)
 gnomAD v4
Xg.153870768G>ACA645152435L1CAMc.694+22C>T (n.694+22C>T)
c.679+22C>T (n.679+22C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870768G=CA2466507284L1CAMc.694+22C= (n.694+22C=)
c.679+22C= (n.679+22C=)
Xg.153870773G>ACA2824264339L1CAMc.694+17C>T (n.694+17C>T)
c.679+17C>T (n.679+17C>T)
Xg.153870775G>ACA2695068770L1CAMc.694+15C>T (n.694+15C>T)
c.679+15C>T (n.679+15C>T)
 gnomAD v4
Xg.153870776C>GCA2695068771L1CAMc.694+14G>C (n.694+14G>C)
c.679+14G>C (n.679+14G>C)
 gnomAD v4
Xg.153870777C>ACA2695068772L1CAMc.694+13G>T (n.694+13G>T)
c.679+13G>T (n.679+13G>T)
 gnomAD v4
Xg.153870777C>TCA2824264340L1CAMc.694+13G>A (n.694+13G>A)
c.679+13G>A (n.679+13G>A)
Xg.153870778T>GCA10554535L1CAMc.694+12A>C (n.694+12A>C)
c.679+12A>C (n.679+12A>C)
 dbSNP ExAC
Xg.153870778T=CA2466507285L1CAMc.694+12A= (n.694+12A=)
c.679+12A= (n.679+12A=)
Xg.153870779C=CA2466507287L1CAMc.694+11G= (n.694+11G=)
c.679+11G= (n.679+11G=)
Xg.153870779C>GCA645152436L1CAMc.694+11G>C (n.694+11G>C)
c.679+11G>C (n.679+11G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870779C>TCA2466507286L1CAMc.694+11G>A (n.694+11G>A)
c.679+11G>A (n.679+11G>A)
 dbSNP
Xg.153870780T>ACA2579733046L1CAMc.694+10A>T (n.694+10A>T)
c.679+10A>T (n.679+10A>T)
 ClinVar
Xg.153870780T>CCA2579733047L1CAMc.694+10A>G (n.694+10A>G)
c.679+10A>G (n.679+10A>G)
Xg.153870780T>GCA2579733048L1CAMc.694+10A>C (n.694+10A>C)
c.679+10A>C (n.679+10A>C)
Xg.153870781G>TCA2695068773L1CAMc.694+9C>A (n.694+9C>A)
c.679+9C>A (n.679+9C>A)
 gnomAD v4
Xg.153870785C>TCA2695236877L1CAMc.694+5G>A (n.694+5G>A)
c.679+5G>A (n.679+5G>A)
Xg.153870788A>CCA415133646L1CAMc.694+2T>G (n.694+2T>G)
c.679+2T>G (n.679+2T>G)
Xg.153870788A>GCA415133649L1CAMc.694+2T>C (n.694+2T>C)
c.679+2T>C (n.679+2T>C)
Xg.153870788A>TCA415133651L1CAMc.694+2T>A (n.694+2T>A)
c.679+2T>A (n.679+2T>A)
Xg.153870789C>ACA415133655L1CAMc.694+1G>T (n.694+1G>T)
c.679+1G>T (n.679+1G>T)
Xg.153870789C>GCA415133657L1CAMc.694+1G>C (n.694+1G>C)
c.679+1G>C (n.679+1G>C)
Xg.153870789C>TCA415133659L1CAMc.694+1G>A (n.694+1G>A)
c.679+1G>A (n.679+1G>A)
Xg.153870790T>ACA415133661L1CAMc.694A>T (p.Thr232Ser)
c.679A>T (p.Thr227Ser)
Xg.153870790T>CCA415133663L1CAMc.694A>G (p.Thr232Ala)
c.679A>G (p.Thr227Ala)
 gnomAD v4
Xg.153870790T>GCA415133666L1CAMc.694A>C (p.Thr232Pro)
c.679A>C (p.Thr227Pro)
Xg.153870791G>ACA519209458L1CAMc.693C>T (p.Ala231=)
c.678C>T (p.Ala226=)
Xg.153870791G>CCA519209459L1CAMc.693C>G (p.Ala231=)
c.678C>G (p.Ala226=)
Xg.153870791G>TCA519209461L1CAMc.693C>A (p.Ala231=)
c.678C>A (p.Ala226=)
Xg.153870792G>ACA415133685L1CAMc.692C>T (p.Ala231Val)
c.677C>T (p.Ala226Val)
 COSMIC
Xg.153870792G>CCA415133681L1CAMc.692C>G (p.Ala231Gly)
c.677C>G (p.Ala226Gly)
Xg.153870792G>TCA415133678L1CAMc.692C>A (p.Ala231Asp)
c.677C>A (p.Ala226Asp)
Xg.153870793C>ACA415133687L1CAMc.691G>T (p.Ala231Ser)
c.676G>T (p.Ala226Ser)
 gnomAD v4
Xg.153870793C=CA2466507288L1CAMc.691G= (p.Ala231=)
c.676G= (p.Ala226=)
Xg.153870793C>GCA415133690L1CAMc.691G>C (p.Ala231Pro)
c.676G>C (p.Ala226Pro)
Xg.153870793C>TCA337263729L1CAMc.691G>A (p.Ala231Thr)
c.676G>A (p.Ala226Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870794C>ACA415133694L1CAMc.690G>T (p.Lys230Asn)
c.675G>T (p.Lys225Asn)
Xg.153870794C=CA2466507289L1CAMc.690G= (p.Lys230=)
c.675G= (p.Lys225=)
Xg.153870794C>GCA415133695L1CAMc.690G>C (p.Lys230Asn)
c.675G>C (p.Lys225Asn)
Xg.153870794C>TCA10554536L1CAMc.690G>A (p.Lys230=)
c.675G>A (p.Lys225=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870795T>ACA415133700L1CAMc.689A>T (p.Lys230Met)
c.674A>T (p.Lys225Met)
Xg.153870795T>CCA415133701L1CAMc.689A>G (p.Lys230Arg)
c.674A>G (p.Lys225Arg)
Xg.153870795T>GCA415133704L1CAMc.689A>C (p.Lys230Thr)
c.674A>C (p.Lys225Thr)
Xg.153870796delCA2579733049L1CAMc.689del (p.Lys230ArgfsTer6)
c.674del (p.Lys225ArgfsTer6)
Xg.153870796T>ACA415133706L1CAMc.688A>T (p.Lys230Ter)
c.673A>T (p.Lys225Ter)
Xg.153870796T>CCA415133708L1CAMc.688A>G (p.Lys230Glu)
c.673A>G (p.Lys225Glu)
Xg.153870796T>GCA415133711L1CAMc.688A>C (p.Lys230Gln)
c.673A>C (p.Lys225Gln)
Xg.153870797G>ACA519209487L1CAMc.687C>T (p.Val229=)
c.672C>T (p.Val224=)
Xg.153870797G>CCA519209489L1CAMc.687C>G (p.Val229=)
c.672C>G (p.Val224=)
Xg.153870797G>TCA519209490L1CAMc.687C>A (p.Val229=)
c.672C>A (p.Val224=)
 gnomAD v4
Xg.153870798A>CCA415133720L1CAMc.686T>G (p.Val229Gly)
c.671T>G (p.Val224Gly)
Xg.153870798A>GCA415133717L1CAMc.686T>C (p.Val229Ala)
c.671T>C (p.Val224Ala)
Xg.153870798A>TCA415133715L1CAMc.686T>A (p.Val229Asp)
c.671T>A (p.Val224Asp)
Xg.153870799C>ACA415134870L1CAMc.685G>T (p.Val229Phe)
c.670G>T (p.Val224Phe)
Xg.153870799C>GCA415134872L1CAMc.685G>C (p.Val229Leu)
c.670G>C (p.Val224Leu)
Xg.153870799C>TCA415134874L1CAMc.685G>A (p.Val229Ile)
c.670G>A (p.Val224Ile)
 gnomAD v4
Xg.153870800C>ACA519344121L1CAMc.684G>T (p.Arg228=)
c.669G>T (p.Arg223=)
Xg.153870800C=CA2466507290L1CAMc.684G= (p.Arg228=)
c.669G= (p.Arg223=)
Xg.153870800C>GCA337263732L1CAMc.684G>C (p.Arg228=)
c.669G>C (p.Arg223=)
 dbSNP gnomAD v4
Xg.153870800C>TCA519344124L1CAMc.684G>A (p.Arg228=)
c.669G>A (p.Arg223=)
 COSMIC
Xg.153870801C>ACA415134879L1CAMc.683G>T (p.Arg228Leu)
c.668G>T (p.Arg223Leu)
Xg.153870801C=CA2466507291L1CAMc.683G= (p.Arg228=)
c.668G= (p.Arg223=)
Xg.153870801C>GCA415134881L1CAMc.683G>C (p.Arg228Pro)
c.668G>C (p.Arg223Pro)
Xg.153870801C>TCA10554537L1CAMc.683G>A (p.Arg228Gln)
c.668G>A (p.Arg223Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870802G>ACA10554538L1CAMc.682C>T (p.Arg228Trp)
c.667C>T (p.Arg223Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.153870802G>CCA415134889L1CAMc.682C>G (p.Arg228Gly)
c.667C>G (p.Arg223Gly)
Xg.153870802G=CA2466507292L1CAMc.682C= (p.Arg228=)
c.667C= (p.Arg223=)
Xg.153870802G>TCA519344130L1CAMc.682C>A (p.Arg228=)
c.667C>A (p.Arg223=)
Xg.153870803G>ACA519344132L1CAMc.681C>T (p.Leu227=)
c.666C>T (p.Leu222=)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870803G>CCA519344133L1CAMc.681C>G (p.Leu227=)
c.666C>G (p.Leu222=)
Xg.153870803G=CA2466507293L1CAMc.681C= (p.Leu227=)
c.666C= (p.Leu222=)
Xg.153870803G>TCA519344134L1CAMc.681C>A (p.Leu227=)
c.666C>A (p.Leu222=)
Xg.153870804A>CCA415134892L1CAMc.680T>G (p.Leu227Arg)
c.665T>G (p.Leu222Arg)
Xg.153870804A>GCA415134895L1CAMc.680T>C (p.Leu227Pro)
c.665T>C (p.Leu222Pro)
Xg.153870804A>TCA415134897L1CAMc.680T>A (p.Leu227His)
c.665T>A (p.Leu222His)
Xg.153870805G>ACA415134900L1CAMc.679C>T (p.Leu227Phe)
c.664C>T (p.Leu222Phe)
Xg.153870805G>CCA415134905L1CAMc.679C>G (p.Leu227Val)
c.664C>G (p.Leu222Val)
Xg.153870805G>TCA415134902L1CAMc.679C>A (p.Leu227Ile)
c.664C>A (p.Leu222Ile)
Xg.153870806G>ACA519344142L1CAMc.678C>T (p.Asp226=)
c.663C>T (p.Asp221=)
Xg.153870806G>CCA415134906L1CAMc.678C>G (p.Asp226Glu)
c.663C>G (p.Asp221Glu)
Xg.153870806G>TCA415134907L1CAMc.678C>A (p.Asp226Glu)
c.663C>A (p.Asp221Glu)
Xg.153870807T>ACA415134910L1CAMc.677A>T (p.Asp226Val)
c.662A>T (p.Asp221Val)
Xg.153870807T>CCA415134911L1CAMc.677A>G (p.Asp226Gly)
c.662A>G (p.Asp221Gly)
Xg.153870807T>GCA415134913L1CAMc.677A>C (p.Asp226Ala)
c.662A>C (p.Asp221Ala)
 gnomAD v3 gnomAD v4
Xg.153870808C>ACA415134915L1CAMc.676G>T (p.Asp226Tyr)
c.661G>T (p.Asp221Tyr)
Xg.153870808C>GCA415134917L1CAMc.676G>C (p.Asp226His)
c.661G>C (p.Asp221His)
Xg.153870808C>TCA415134920L1CAMc.676G>A (p.Asp226Asn)
c.661G>A (p.Asp221Asn)
Xg.153870809A>CCA415134922L1CAMc.675T>G (p.Ile225Met)
c.660T>G (p.Ile220Met)
Xg.153870809A>GCA519344147L1CAMc.675T>C (p.Ile225=)
c.660T>C (p.Ile220=)
Xg.153870809A>TCA519344148L1CAMc.675T>A (p.Ile225=)
c.660T>A (p.Ile220=)
Xg.153870810A>CCA415134923L1CAMc.674T>G (p.Ile225Ser)
c.659T>G (p.Ile220Ser)
 COSMIC
Xg.153870810A>GCA415134926L1CAMc.674T>C (p.Ile225Thr)
c.659T>C (p.Ile220Thr)
Xg.153870810A>TCA415134929L1CAMc.674T>A (p.Ile225Asn)
c.659T>A (p.Ile220Asn)
Xg.153870811T>ACA415134932L1CAMc.673A>T (p.Ile225Phe)
c.658A>T (p.Ile220Phe)
Xg.153870811T>CCA415134937L1CAMc.673A>G (p.Ile225Val)
c.658A>G (p.Ile220Val)
Xg.153870811T>GCA415134934L1CAMc.673A>C (p.Ile225Leu)
c.658A>C (p.Ile220Leu)
Xg.153870812G>ACA519344149L1CAMc.672C>T (p.Pro224=)
c.657C>T (p.Pro219=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870812G>CCA519344153L1CAMc.672C>G (p.Pro224=)
c.657C>G (p.Pro219=)
Xg.153870812G=CA2466507294L1CAMc.672C= (p.Pro224=)
c.657C= (p.Pro219=)
Xg.153870812G>TCA519344152L1CAMc.672C>A (p.Pro224=)
c.657C>A (p.Pro219=)
Xg.153870814delCA2695236879L1CAMc.672del (p.Ile225LeufsTer11)
c.657del (p.Ile220LeufsTer11)
Xg.153870813G>ACA415134940L1CAMc.671C>T (p.Pro224Leu)
c.656C>T (p.Pro219Leu)
 COSMIC
Xg.153870813G>CCA415134942L1CAMc.671C>G (p.Pro224Arg)
c.656C>G (p.Pro219Arg)
Xg.153870813G>TCA415134944L1CAMc.671C>A (p.Pro224His)
c.656C>A (p.Pro219His)
Xg.153870814G>ACA415134947L1CAMc.670C>T (p.Pro224Ser)
c.655C>T (p.Pro219Ser)
Xg.153870814G>CCA415134948L1CAMc.670C>G (p.Pro224Ala)
c.655C>G (p.Pro219Ala)
 dbSNP
Xg.153870814G=CA2466507295L1CAMc.670C= (p.Pro224=)
c.655C= (p.Pro219=)
Xg.153870814G>TCA415134949L1CAMc.670C>A (p.Pro224Thr)
c.655C>A (p.Pro219Thr)
Xg.153870815T>ACA415134951L1CAMc.669A>T (p.Glu223Asp)
c.654A>T (p.Glu218Asp)
Xg.153870815T>CCA10554539L1CAMc.669A>G (p.Glu223=)
c.654A>G (p.Glu218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870815T>GCA415134954L1CAMc.669A>C (p.Glu223Asp)
c.654A>C (p.Glu218Asp)
Xg.153870815T=CA2466507296L1CAMc.669A= (p.Glu223=)
c.654A= (p.Glu218=)
Xg.153870816T>ACA415134960L1CAMc.668A>T (p.Glu223Val)
c.653A>T (p.Glu218Val)
Xg.153870816T>CCA415134957L1CAMc.668A>G (p.Glu223Gly)
c.653A>G (p.Glu218Gly)
Xg.153870816T>GCA415134956L1CAMc.668A>C (p.Glu223Ala)
c.653A>C (p.Glu218Ala)
Xg.153870817C>ACA415134962L1CAMc.667G>T (p.Glu223Ter)
c.652G>T (p.Glu218Ter)
Xg.153870817C>GCA415134965L1CAMc.667G>C (p.Glu223Gln)
c.652G>C (p.Glu218Gln)
Xg.153870817C>TCA415134963L1CAMc.667G>A (p.Glu223Lys)
c.652G>A (p.Glu218Lys)
Xg.153870818delCA2695236880L1CAMc.667del (p.Glu223AsnfsTer13)
c.652del (p.Glu218AsnfsTer13)
Xg.153870818C>ACA415134970L1CAMc.666G>T (p.Lys222Asn)
c.651G>T (p.Lys217Asn)
Xg.153870818C=CA2466507297L1CAMc.666G= (p.Lys222=)
c.651G= (p.Lys217=)
Xg.153870818C>GCA415134972L1CAMc.666G>C (p.Lys222Asn)
c.651G>C (p.Lys217Asn)
Xg.153870818C>TCA10554540L1CAMc.666G>A (p.Lys222=)
c.651G>A (p.Lys217=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870819T>ACA415134973L1CAMc.665A>T (p.Lys222Met)
c.650A>T (p.Lys217Met)
Xg.153870819T>CCA415134976L1CAMc.665A>G (p.Lys222Arg)
c.650A>G (p.Lys217Arg)
Xg.153870819T>GCA415134978L1CAMc.665A>C (p.Lys222Thr)
c.650A>C (p.Lys217Thr)
Xg.153870820delCA2695236881L1CAMc.665del (p.Lys222ArgfsTer14)
c.650del (p.Lys217ArgfsTer14)
Xg.153870820T>ACA415134981L1CAMc.664A>T (p.Lys222Ter)
c.649A>T (p.Lys217Ter)
Xg.153870820T>CCA415134982L1CAMc.664A>G (p.Lys222Glu)
c.649A>G (p.Lys217Glu)
Xg.153870820T>GCA415134984L1CAMc.664A>C (p.Lys222Gln)
c.649A>C (p.Lys217Gln)
Xg.153870821C>ACA415134988L1CAMc.663G>T (p.Gln221His)
c.648G>T (p.Gln216His)
Xg.153870821C=CA2466507298L1CAMc.663G= (p.Gln221=)
c.648G= (p.Gln216=)
Xg.153870821C>GCA415134990L1CAMc.663G>C (p.Gln221His)
c.648G>C (p.Gln216His)
Xg.153870821C>TCA519344160L1CAMc.663G>A (p.Gln221=)
c.648G>A (p.Gln216=)
 dbSNP gnomAD v3 gnomAD v4
Xg.153870822T>ACA415134992L1CAMc.662A>T (p.Gln221Leu)
c.647A>T (p.Gln216Leu)
Xg.153870822T>CCA415134995L1CAMc.662A>G (p.Gln221Arg)
c.647A>G (p.Gln216Arg)
Xg.153870822T>GCA415134997L1CAMc.662A>C (p.Gln221Pro)
c.647A>C (p.Gln216Pro)
Xg.153870823G>ACA415135000L1CAMc.661C>T (p.Gln221Ter)
c.646C>T (p.Gln216Ter)
Xg.153870823G>CCA415135005L1CAMc.661C>G (p.Gln221Glu)
c.646C>G (p.Gln216Glu)
Xg.153870823G>TCA415135002L1CAMc.661C>A (p.Gln221Lys)
c.646C>A (p.Gln216Lys)
Xg.153870824A>CCA415135008L1CAMc.660T>G (p.Ile220Met)
c.645T>G (p.Ile215Met)
Xg.153870824A>GCA519344164L1CAMc.660T>C (p.Ile220=)
c.645T>C (p.Ile215=)
Xg.153870824A>TCA519344165L1CAMc.660T>A (p.Ile220=)
c.645T>A (p.Ile215=)
Xg.153870825A>CCA415135011L1CAMc.659T>G (p.Ile220Ser)
c.644T>G (p.Ile215Ser)
Xg.153870825A>GCA415135013L1CAMc.659T>C (p.Ile220Thr)
c.644T>C (p.Ile215Thr)
Xg.153870825A>TCA415135016L1CAMc.659T>A (p.Ile220Asn)
c.644T>A (p.Ile215Asn)
Xg.153870828_153870830dupCA2695236882L1CAMc.657_659dup (p.Ile220_Gln221insIle)
c.642_644dup (p.Ile215_Gln216insIle)
Xg.153870826T>ACA415135018L1CAMc.658A>T (p.Ile220Phe)
c.643A>T (p.Ile215Phe)
Xg.153870826T>CCA415135021L1CAMc.658A>G (p.Ile220Val)
c.643A>G (p.Ile215Val)
Xg.153870826T>GCA415135023L1CAMc.658A>C (p.Ile220Leu)
c.643A>C (p.Ile215Leu)
Xg.153870827delCA2579733050L1CAMc.657del (p.Ile220PhefsTer16)
c.642del (p.Ile215PhefsTer16)
Xg.153870827G>ACA519344170L1CAMc.657C>T (p.Ile219=)
c.642C>T (p.Ile214=)
Xg.153870827G>CCA415135026L1CAMc.657C>G (p.Ile219Met)
c.642C>G (p.Ile214Met)
Xg.153870827G>TCA519344172L1CAMc.657C>A (p.Ile219=)
c.642C>A (p.Ile214=)
 gnomAD v4
Xg.153870828A>CCA415135031L1CAMc.656T>G (p.Ile219Ser)
c.641T>G (p.Ile214Ser)
Xg.153870828A>GCA415135035L1CAMc.656T>C (p.Ile219Thr)
c.641T>C (p.Ile214Thr)
Xg.153870828A>TCA415135029L1CAMc.656T>A (p.Ile219Asn)
c.641T>A (p.Ile214Asn)
Xg.153870829T>ACA415135038L1CAMc.655A>T (p.Ile219Phe)
c.640A>T (p.Ile214Phe)
Xg.153870829T>CCA415135039L1CAMc.655A>G (p.Ile219Val)
c.640A>G (p.Ile214Val)
Xg.153870829T>GCA415135044L1CAMc.655A>C (p.Ile219Leu)
c.640A>C (p.Ile214Leu)
Xg.153870830G>ACA519344176L1CAMc.654C>T (p.Thr218=)
c.639C>T (p.Thr213=)
Xg.153870830G>CCA519344177L1CAMc.654C>G (p.Thr218=)
c.639C>G (p.Thr213=)
Xg.153870830G>TCA519344179L1CAMc.654C>A (p.Thr218=)
c.639C>A (p.Thr213=)
 COSMIC
Xg.153870831G>ACA415135046L1CAMc.653C>T (p.Thr218Ile)
c.638C>T (p.Thr213Ile)
Xg.153870831G>CCA415135048L1CAMc.653C>G (p.Thr218Ser)
c.638C>G (p.Thr213Ser)
Xg.153870831G>TCA415135051L1CAMc.653C>A (p.Thr218Asn)
c.638C>A (p.Thr213Asn)
Xg.153870832T>ACA415135064L1CAMc.652A>T (p.Thr218Ser)
c.637A>T (p.Thr213Ser)
Xg.153870832T>CCA415135066L1CAMc.652A>G (p.Thr218Ala)
c.637A>G (p.Thr213Ala)
Xg.153870832T>GCA415135068L1CAMc.652A>C (p.Thr218Pro)
c.637A>C (p.Thr213Pro)
Xg.153870833C>ACA415135073L1CAMc.651G>T (p.Arg217Ser)
c.636G>T (p.Arg212Ser)
Xg.153870833C=CA2466507299L1CAMc.651G= (p.Arg217=)
c.636G= (p.Arg212=)
Xg.153870833C>GCA415135083L1CAMc.651G>C (p.Arg217Ser)
c.636G>C (p.Arg212Ser)
Xg.153870833C>TCA10554541L1CAMc.651G>A (p.Arg217=)
c.636G>A (p.Arg212=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.153870834C>ACA415135088L1CAMc.650G>T (p.Arg217Met)
c.635G>T (p.Arg212Met)
Xg.153870834C>GCA415135092L1CAMc.650G>C (p.Arg217Thr)
c.635G>C (p.Arg212Thr)
Xg.153870834C>TCA415135091L1CAMc.650G>A (p.Arg217Lys)
c.635G>A (p.Arg212Lys)
Xg.153870835T>ACA415135096L1CAMc.649A>T (p.Arg217Trp)
c.634A>T (p.Arg212Trp)
Xg.153870835T>CCA415135098L1CAMc.649A>G (p.Arg217Gly)
c.634A>G (p.Arg212Gly)
 ClinVar dbSNP
Xg.153870835T>GCA10554542L1CAMc.649A>C (p.Arg217=)
c.634A>C (p.Arg212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870835T=CA2466507300L1CAMc.649A= (p.Arg217=)
c.634A= (p.Arg212=)
Xg.153870836G>ACA10554543L1CAMc.648C>T (p.Thr216=)
c.633C>T (p.Thr211=)
 dbSNP ExAC gnomAD v2
Xg.153870836G>CCA519344186L1CAMc.648C>G (p.Thr216=)
c.633C>G (p.Thr211=)
Xg.153870836G=CA2466507301L1CAMc.648C= (p.Thr216=)
c.633C= (p.Thr211=)
Xg.153870836G>TCA519344187L1CAMc.648C>A (p.Thr216=)
c.633C>A (p.Thr211=)
Xg.153870836_153870840dupCA2573159353L1CAMc.644_648dup (p.Arg217AlafsTer21)
c.629_633dup (p.Arg212AlafsTer21)
 ClinVar dbSNP
Xg.153870837G>ACA415135105L1CAMc.647C>T (p.Thr216Ile)
c.632C>T (p.Thr211Ile)
Xg.153870837G>CCA415135108L1CAMc.647C>G (p.Thr216Ser)
c.632C>G (p.Thr211Ser)
Xg.153870837G>TCA415135123L1CAMc.647C>A (p.Thr216Asn)
c.632C>A (p.Thr211Asn)
Xg.153870838T>ACA415135128L1CAMc.646A>T (p.Thr216Ser)
c.631A>T (p.Thr211Ser)
Xg.153870838T>CCA415135131L1CAMc.646A>G (p.Thr216Ala)
c.631A>G (p.Thr211Ala)
Xg.153870838T>GCA415135133L1CAMc.646A>C (p.Thr216Pro)
c.631A>C (p.Thr211Pro)
Xg.153870839G>ACA519344189L1CAMc.645C>T (p.Gly215=)
c.630C>T (p.Gly210=)
Xg.153870839G>CCA519344191L1CAMc.645C>G (p.Gly215=)
c.630C>G (p.Gly210=)
Xg.153870839G>TCA519344192L1CAMc.645C>A (p.Gly215=)
c.630C>A (p.Gly210=)
Xg.153870840C>ACA415135146L1CAMc.644G>T (p.Gly215Val)
c.629G>T (p.Gly210Val)
 COSMIC
Xg.153870840C=CA2466507302L1CAMc.644G= (p.Gly215=)
c.629G= (p.Gly210=)
Xg.153870840C>GCA415135139L1CAMc.644G>C (p.Gly215Ala)
c.629G>C (p.Gly210Ala)
Xg.153870840C>TCA415135137L1CAMc.644G>A (p.Gly215Asp)
c.629G>A (p.Gly210Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153870841delCA2695236884L1CAMc.644del (p.Gly215AlafsTer21)
c.629del (p.Gly210AlafsTer21)
Xg.153870841C>ACA415135148L1CAMc.643G>T (p.Gly215Cys)
c.628G>T (p.Gly210Cys)
Xg.153870841C>GCA415135150L1CAMc.643G>C (p.Gly215Arg)
c.628G>C (p.Gly210Arg)
Xg.153870841C>TCA415135149L1CAMc.643G>A (p.Gly215Ser)
c.628G>A (p.Gly210Ser)
Xg.153870841_153870842insATCATCA2579733051L1CAMc.642_643insATGAT (p.Gly215MetfsTer23)
c.627_628insATGAT (p.Gly210MetfsTer23)
Xg.153870842T>ACA519344196L1CAMc.642A>T (p.Pro214=)
c.627A>T (p.Pro209=)
Xg.153870842T>CCA519344198L1CAMc.642A>G (p.Pro214=)
c.627A>G (p.Pro209=)
Xg.153870842T>GCA519344199L1CAMc.642A>C (p.Pro214=)
c.627A>C (p.Pro209=)
Xg.153870843G>ACA415135152L1CAMc.641C>T (p.Pro214Leu)
c.626C>T (p.Pro209Leu)
 ClinVar dbSNP
Xg.153870843G>CCA415135153L1CAMc.641C>G (p.Pro214Arg)
c.626C>G (p.Pro209Arg)
Xg.153870843G=CA2466507303L1CAMc.641C= (p.Pro214=)
c.626C= (p.Pro209=)
Xg.153870843G>TCA415135156L1CAMc.641C>A (p.Pro214Gln)
c.626C>A (p.Pro209Gln)
Xg.153870844_153870845delCA2579733052L1CAMc.640_641del (p.Pro214ArgfsTer12)
c.625_626del (p.Pro209ArgfsTer12)
Xg.153870844G>ACA415135157L1CAMc.640C>T (p.Pro214Ser)
c.625C>T (p.Pro209Ser)
Xg.153870844G>CCA415135158L1CAMc.640C>G (p.Pro214Ala)
c.625C>G (p.Pro209Ala)
Xg.153870844G>TCA415135159L1CAMc.640C>A (p.Pro214Thr)
c.625C>A (p.Pro209Thr)
Xg.153870845G>ACA519344203L1CAMc.639C>T (p.Phe213=)
c.624C>T (p.Phe208=)
Xg.153870845G>CCA415135160L1CAMc.639C>G (p.Phe213Leu)
c.624C>G (p.Phe208Leu)
Xg.153870845G>TCA415135161L1CAMc.639C>A (p.Phe213Leu)
c.624C>A (p.Phe208Leu)
Xg.153870846A>CCA415135162L1CAMc.638T>G (p.Phe213Cys)
c.623T>G (p.Phe208Cys)
Xg.153870846A>GCA415135164L1CAMc.638T>C (p.Phe213Ser)
c.623T>C (p.Phe208Ser)
Xg.153870846A>TCA415135167L1CAMc.638T>A (p.Phe213Tyr)
c.623T>A (p.Phe208Tyr)
Xg.153870847A>CCA415135170L1CAMc.637T>G (p.Phe213Val)
c.622T>G (p.Phe208Val)
Xg.153870847A>GCA415135175L1CAMc.637T>C (p.Phe213Leu)
c.622T>C (p.Phe208Leu)
Xg.153870847A>TCA415135172L1CAMc.637T>A (p.Phe213Ile)
c.622T>A (p.Phe208Ile)
Xg.153870848G>ACA519344210L1CAMc.636C>T (p.His212=)
c.621C>T (p.His207=)
Xg.153870848G>CCA415135178L1CAMc.636C>G (p.His212Gln)
c.621C>G (p.His207Gln)
Xg.153870848G>TCA415135180L1CAMc.636C>A (p.His212Gln)
c.621C>A (p.His207Gln)
Xg.153870849T>ACA415135184L1CAMc.635A>T (p.His212Leu)
c.620A>T (p.His207Leu)
 dbSNP
Xg.153870849T>CCA415135196L1CAMc.635A>G (p.His212Arg)
c.620A>G (p.His207Arg)
Xg.153870849T>GCA415135200L1CAMc.635A>C (p.His212Pro)
c.620A>C (p.His207Pro)
Xg.153870849T=CA2466507304L1CAMc.635A= (p.His212=)
c.620A= (p.His207=)
Xg.153870850G>ACA415135203L1CAMc.634C>T (p.His212Tyr)
c.619C>T (p.His207Tyr)
Xg.153870850G>CCA415135214L1CAMc.634C>G (p.His212Asp)
c.619C>G (p.His207Asp)
Xg.153870850G>TCA415135216L1CAMc.634C>A (p.His212Asn)
c.619C>A (p.His207Asn)
Xg.153870852delCA2579733053L1CAMc.634del (p.His212ThrfsTer24)
c.619del (p.His207ThrfsTer24)
Xg.153870851G>ACA519344215L1CAMc.633C>T (p.Ala211=)
c.618C>T (p.Ala206=)
 ClinVar gnomAD v4
Xg.153870851G>CCA519344217L1CAMc.633C>G (p.Ala211=)
c.618C>G (p.Ala206=)
Xg.153870851G>TCA519344218L1CAMc.633C>A (p.Ala211=)
c.618C>A (p.Ala206=)
 COSMIC
Xg.153870852G>ACA415135221L1CAMc.632C>T (p.Ala211Val)
c.617C>T (p.Ala206Val)
Xg.153870852G>CCA415135223L1CAMc.632C>G (p.Ala211Gly)
c.617C>G (p.Ala206Gly)
Xg.153870852G>TCA415135218L1CAMc.632C>A (p.Ala211Asp)
c.617C>A (p.Ala206Asp)
Xg.153870853C>ACA10554544L1CAMc.631G>T (p.Ala211Ser)
c.616G>T (p.Ala206Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.153870853C=CA2466507305L1CAMc.631G= (p.Ala211=)
c.616G= (p.Ala206=)
Xg.153870853C>GCA415135232L1CAMc.631G>C (p.Ala211Pro)
c.616G>C (p.Ala206Pro)
Xg.153870853C>TCA337263738L1CAMc.631G>A (p.Ala211Thr)
c.616G>A (p.Ala206Thr)
 ClinVar dbSNP gnomAD v4
Xg.153870854G>ACA220733L1CAMc.630C>T (p.His210=)
c.615C>T (p.His205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870854G>CCA337263752L1CAMc.630C>G (p.His210Gln)
c.615C>G (p.His205Gln)
 dbSNP
Xg.153870854G=CA2466507306L1CAMc.630C= (p.His210=)
c.615C= (p.His205=)
Xg.153870854G>TCA254955L1CAMc.630C>A (p.His210Gln)
c.615C>A (p.His205Gln)
 ClinVar dbSNP

Number of alleles fetched