Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153863494C>ACA415108477L1CAMc.3513G>T (p.Glu1171Asp)
c.3498G>T (p.Glu1166Asp)
c.213G>T (p.Glu71Asp)
n.476G>T
Xg.153863494C>GCA415108481L1CAMc.3513G>C (p.Glu1171Asp)
c.3498G>C (p.Glu1166Asp)
c.213G>C (p.Glu71Asp)
n.476G>C
Xg.153863494C>TCA519199651L1CAMc.3513G>A (p.Glu1171=)
c.3498G>A (p.Glu1166=)
c.213G>A (p.Glu71=)
n.476G>A
 gnomAD v3 gnomAD v4
Xg.153863495T>ACA415108496L1CAMc.3512A>T (p.Glu1171Val)
c.3497A>T (p.Glu1166Val)
c.212A>T (p.Glu71Val)
n.475A>T
Xg.153863495T>CCA415108490L1CAMc.3512A>G (p.Glu1171Gly)
c.3497A>G (p.Glu1166Gly)
c.212A>G (p.Glu71Gly)
n.475A>G
Xg.153863495T>GCA415108486L1CAMc.3512A>C (p.Glu1171Ala)
c.3497A>C (p.Glu1166Ala)
c.212A>C (p.Glu71Ala)
n.475A>C
Xg.153863496C>ACA415108499L1CAMc.3511G>T (p.Glu1171Ter)
c.3496G>T (p.Glu1166Ter)
c.211G>T (p.Glu71Ter)
n.474G>T
Xg.153863496C>GCA415108501L1CAMc.3511G>C (p.Glu1171Gln)
c.3496G>C (p.Glu1166Gln)
c.211G>C (p.Glu71Gln)
n.474G>C
Xg.153863496C>TCA415108507L1CAMc.3511G>A (p.Glu1171Lys)
c.3496G>A (p.Glu1166Lys)
c.211G>A (p.Glu71Lys)
n.474G>A
Xg.153863497A>CCA415108513L1CAMc.3510T>G (p.Asp1170Glu)
c.3495T>G (p.Asp1165Glu)
c.210T>G (p.Asp70Glu)
n.473T>G
 gnomAD v4
Xg.153863497A>GCA519199665L1CAMc.3510T>C (p.Asp1170=)
c.3495T>C (p.Asp1165=)
c.210T>C (p.Asp70=)
n.473T>C
Xg.153863497A>TCA415108517L1CAMc.3510T>A (p.Asp1170Glu)
c.3495T>A (p.Asp1165Glu)
c.210T>A (p.Asp70Glu)
n.473T>A
Xg.153863498T>ACA415108524L1CAMc.3509A>T (p.Asp1170Val)
c.3494A>T (p.Asp1165Val)
c.209A>T (p.Asp70Val)
n.472A>T
Xg.153863498T>CCA415108528L1CAMc.3509A>G (p.Asp1170Gly)
c.3494A>G (p.Asp1165Gly)
c.209A>G (p.Asp70Gly)
n.472A>G
Xg.153863498T>GCA415108534L1CAMc.3509A>C (p.Asp1170Ala)
c.3494A>C (p.Asp1165Ala)
c.209A>C (p.Asp70Ala)
n.472A>C
Xg.153863499C>ACA415108539L1CAMc.3508G>T (p.Asp1170Tyr)
c.3493G>T (p.Asp1165Tyr)
c.208G>T (p.Asp70Tyr)
n.471G>T
Xg.153863499C>GCA415108544L1CAMc.3508G>C (p.Asp1170His)
c.3493G>C (p.Asp1165His)
c.208G>C (p.Asp70His)
n.471G>C
Xg.153863499C>TCA415108545L1CAMc.3508G>A (p.Asp1170Asn)
c.3493G>A (p.Asp1165Asn)
c.208G>A (p.Asp70Asn)
n.471G>A
Xg.153863500T>ACA415108547L1CAMc.3507A>T (p.Lys1169Asn)
c.3492A>T (p.Lys1164Asn)
c.207A>T (p.Lys69Asn)
n.470A>T
Xg.153863500T>CCA519199698L1CAMc.3507A>G (p.Lys1169=)
c.3492A>G (p.Lys1164=)
c.207A>G (p.Lys69=)
n.470A>G
 gnomAD v4
Xg.153863500T>GCA415108548L1CAMc.3507A>C (p.Lys1169Asn)
c.3492A>C (p.Lys1164Asn)
c.207A>C (p.Lys69Asn)
n.470A>C
Xg.153863501T>ACA415108550L1CAMc.3506A>T (p.Lys1169Ile)
c.3491A>T (p.Lys1164Ile)
c.206A>T (p.Lys69Ile)
n.469A>T
Xg.153863501T>CCA415108555L1CAMc.3506A>G (p.Lys1169Arg)
c.3491A>G (p.Lys1164Arg)
c.206A>G (p.Lys69Arg)
n.469A>G
Xg.153863501T>GCA415108553L1CAMc.3506A>C (p.Lys1169Thr)
c.3491A>C (p.Lys1164Thr)
c.206A>C (p.Lys69Thr)
n.469A>C
Xg.153863502T>ACA415108558L1CAMc.3505A>T (p.Lys1169Ter)
c.3490A>T (p.Lys1164Ter)
c.205A>T (p.Lys69Ter)
n.468A>T
Xg.153863502T>CCA415108561L1CAMc.3505A>G (p.Lys1169Glu)
c.3490A>G (p.Lys1164Glu)
c.205A>G (p.Lys69Glu)
n.468A>G
Xg.153863502T>GCA415108566L1CAMc.3505A>C (p.Lys1169Gln)
c.3490A>C (p.Lys1164Gln)
c.205A>C (p.Lys69Gln)
n.468A>C
Xg.153863503C>ACA415108573L1CAMc.3504G>T (p.Met1168Ile)
c.3489G>T (p.Met1163Ile)
c.204G>T (p.Met68Ile)
n.467G>T
Xg.153863503C>GCA415108596L1CAMc.3504G>C (p.Met1168Ile)
c.3489G>C (p.Met1163Ile)
c.204G>C (p.Met68Ile)
n.467G>C
Xg.153863503C>TCA415108599L1CAMc.3504G>A (p.Met1168Ile)
c.3489G>A (p.Met1163Ile)
c.204G>A (p.Met68Ile)
n.467G>A
Xg.153863504A>CCA415108603L1CAMc.3503T>G (p.Met1168Arg)
c.3488T>G (p.Met1163Arg)
c.203T>G (p.Met68Arg)
n.466T>G
Xg.153863504A>GCA415108605L1CAMc.3503T>C (p.Met1168Thr)
c.3488T>C (p.Met1163Thr)
c.203T>C (p.Met68Thr)
n.466T>C
Xg.153863504A>TCA415108612L1CAMc.3503T>A (p.Met1168Lys)
c.3488T>A (p.Met1163Lys)
c.203T>A (p.Met68Lys)
n.466T>A
Xg.153863505T>ACA415108621L1CAMc.3502A>T (p.Met1168Leu)
c.3487A>T (p.Met1163Leu)
c.202A>T (p.Met68Leu)
n.465A>T
Xg.153863505T>CCA415108620L1CAMc.3502A>G (p.Met1168Val)
c.3487A>G (p.Met1163Val)
c.202A>G (p.Met68Val)
n.465A>G
Xg.153863505T>GCA415108617L1CAMc.3502A>C (p.Met1168Leu)
c.3487A>C (p.Met1163Leu)
c.202A>C (p.Met68Leu)
n.465A>C
Xg.153863506C>ACA519199749L1CAMc.3501G>T (p.Pro1167=)
c.3486G>T (p.Pro1162=)
c.201G>T (p.Pro67=)
n.464G>T
Xg.153863506C=CA2466504680L1CAMc.3501G= (p.Pro1167=)
c.3486G= (p.Pro1162=)
c.201G= (p.Pro67=)
n.464G=
Xg.153863506C>GCA519199751L1CAMc.3501G>C (p.Pro1167=)
c.3486G>C (p.Pro1162=)
c.201G>C (p.Pro67=)
n.464G>C
 gnomAD v4
Xg.153863506C>TCA519199752L1CAMc.3501G>A (p.Pro1167=)
c.3486G>A (p.Pro1162=)
c.201G>A (p.Pro67=)
n.464G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.153863507G>ACA415108622L1CAMc.3500C>T (p.Pro1167Leu)
c.3485C>T (p.Pro1162Leu)
c.200C>T (p.Pro67Leu)
n.463C>T
 ClinVar dbSNP
Xg.153863507G>CCA415108626L1CAMc.3500C>G (p.Pro1167Arg)
c.3485C>G (p.Pro1162Arg)
c.200C>G (p.Pro67Arg)
n.463C>G
Xg.153863507G=CA2466504681L1CAMc.3500C= (p.Pro1167=)
c.3485C= (p.Pro1162=)
c.200C= (p.Pro67=)
n.463C=
Xg.153863507G>TCA415108623L1CAMc.3500C>A (p.Pro1167Gln)
c.3485C>A (p.Pro1162Gln)
c.200C>A (p.Pro67Gln)
n.463C>A
 gnomAD v4 COSMIC
Xg.153863508dupCA2579929271L1CAMc.3500dup (p.Met1168AspfsTer4)
c.3485dup (p.Met1163AspfsTer4)
c.200dup (p.Met68AspfsTer4)
n.463dup
 ClinVar
Xg.153863508G>ACA415108631L1CAMc.3499C>T (p.Pro1167Ser)
c.3484C>T (p.Pro1162Ser)
c.199C>T (p.Pro67Ser)
n.462C>T
Xg.153863508G>CCA415108639L1CAMc.3499C>G (p.Pro1167Ala)
c.3484C>G (p.Pro1162Ala)
c.199C>G (p.Pro67Ala)
n.462C>G
Xg.153863508G>TCA415108635L1CAMc.3499C>A (p.Pro1167Thr)
c.3484C>A (p.Pro1162Thr)
c.199C>A (p.Pro67Thr)
n.462C>A
 gnomAD v4
Xg.153863509T>ACA519199766L1CAMc.3498A>T (p.Arg1166=)
c.3483A>T (p.Arg1161=)
c.198A>T (p.Arg66=)
n.461A>T
Xg.153863509T>CCA519199767L1CAMc.3498A>G (p.Arg1166=)
c.3483A>G (p.Arg1161=)
c.198A>G (p.Arg66=)
n.461A>G
Xg.153863509T>GCA519199768L1CAMc.3498A>C (p.Arg1166=)
c.3483A>C (p.Arg1161=)
c.198A>C (p.Arg66=)
n.461A>C
Xg.153863510C>ACA415108641L1CAMc.3497G>T (p.Arg1166Leu)
c.3482G>T (p.Arg1161Leu)
c.197G>T (p.Arg66Leu)
n.460G>T
Xg.153863510C=CA2466504682L1CAMc.3497G= (p.Arg1166=)
c.3482G= (p.Arg1161=)
c.197G= (p.Arg66=)
n.460G=
Xg.153863510C>GCA415108645L1CAMc.3497G>C (p.Arg1166Pro)
c.3482G>C (p.Arg1161Pro)
c.197G>C (p.Arg66Pro)
n.460G>C
Xg.153863510C>TCA415108647L1CAMc.3497G>A (p.Arg1166Gln)
c.3482G>A (p.Arg1161Gln)
c.197G>A (p.Arg66Gln)
n.460G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.153863511G>ACA415108666L1CAMc.3496C>T (p.Arg1166Ter)
c.3481C>T (p.Arg1161Ter)
c.196C>T (p.Arg66Ter)
n.459C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153863511G>CCA415108669L1CAMc.3496C>G (p.Arg1166Gly)
c.3481C>G (p.Arg1161Gly)
c.196C>G (p.Arg66Gly)
n.459C>G
Xg.153863511G=CA2466504683L1CAMc.3496C= (p.Arg1166=)
c.3481C= (p.Arg1161=)
c.196C= (p.Arg66=)
n.459C=
Xg.153863511G>TCA519199778L1CAMc.3496C>A (p.Arg1166=)
c.3481C>A (p.Arg1161=)
c.196C>A (p.Arg66=)
n.459C>A
Xg.153863512G>ACA519199787L1CAMc.3495C>T (p.Ala1165=)
c.3480C>T (p.Ala1160=)
c.195C>T (p.Ala65=)
n.458C>T
Xg.153863512G>CCA519199791L1CAMc.3495C>G (p.Ala1165=)
c.3480C>G (p.Ala1160=)
c.195C>G (p.Ala65=)
n.458C>G
Xg.153863512G>TCA519199793L1CAMc.3495C>A (p.Ala1165=)
c.3480C>A (p.Ala1160=)
c.195C>A (p.Ala65=)
n.458C>A
Xg.153863513G>ACA415108680L1CAMc.3494C>T (p.Ala1165Val)
c.3479C>T (p.Ala1160Val)
c.194C>T (p.Ala65Val)
n.457C>T
 gnomAD v4
Xg.153863513G>CCA415108686L1CAMc.3494C>G (p.Ala1165Gly)
c.3479C>G (p.Ala1160Gly)
c.194C>G (p.Ala65Gly)
n.457C>G
Xg.153863513G=CA2466504684L1CAMc.3494C= (p.Ala1165=)
c.3479C= (p.Ala1160=)
c.194C= (p.Ala65=)
n.457C=
Xg.153863513G>TCA415108688L1CAMc.3494C>A (p.Ala1165Asp)
c.3479C>A (p.Ala1160Asp)
c.194C>A (p.Ala65Asp)
n.457C>A
 dbSNP
Xg.153863514C>ACA415108705L1CAMc.3493G>T (p.Ala1165Ser)
c.3478G>T (p.Ala1160Ser)
c.193G>T (p.Ala65Ser)
n.456G>T
Xg.153863514C>GCA415108698L1CAMc.3493G>C (p.Ala1165Pro)
c.3478G>C (p.Ala1160Pro)
c.193G>C (p.Ala65Pro)
n.456G>C
Xg.153863514C>TCA415108692L1CAMc.3493G>A (p.Ala1165Thr)
c.3478G>A (p.Ala1160Thr)
c.193G>A (p.Ala65Thr)
n.456G>A
Xg.153863515C>ACA415108708L1CAMc.3492G>T (p.Glu1164Asp)
c.3477G>T (p.Glu1159Asp)
c.192G>T (p.Glu64Asp)
n.455G>T
Xg.153863515C>GCA415108710L1CAMc.3492G>C (p.Glu1164Asp)
c.3477G>C (p.Glu1159Asp)
c.192G>C (p.Glu64Asp)
n.455G>C
Xg.153863515C>TCA519199814L1CAMc.3492G>A (p.Glu1164=)
c.3477G>A (p.Glu1159=)
c.192G>A (p.Glu64=)
n.455G>A
 gnomAD v4
Xg.153863516T>ACA415108718L1CAMc.3491A>T (p.Glu1164Val)
c.3476A>T (p.Glu1159Val)
c.191A>T (p.Glu64Val)
n.454A>T
Xg.153863516T>CCA415108722L1CAMc.3491A>G (p.Glu1164Gly)
c.3476A>G (p.Glu1159Gly)
c.191A>G (p.Glu64Gly)
n.454A>G
Xg.153863516T>GCA415108729L1CAMc.3491A>C (p.Glu1164Ala)
c.3476A>C (p.Glu1159Ala)
c.191A>C (p.Glu64Ala)
n.454A>C
Xg.153863516_153863518delinsTCACA2466504685L1CAMc.3489_3491delinsTGA (p.Ser1163=)
c.3474_3476delinsTGA (p.Ser1158=)
c.189_191delinsTGA (p.Ser63=)
n.452_454delinsTGA
Xg.153863517C>ACA415108731L1CAMc.3490G>T (p.Glu1164Ter)
c.3475G>T (p.Glu1159Ter)
c.190G>T (p.Glu64Ter)
n.453G>T
Xg.153863517C>GCA415108733L1CAMc.3490G>C (p.Glu1164Gln)
c.3475G>C (p.Glu1159Gln)
c.190G>C (p.Glu64Gln)
n.453G>C
Xg.153863517C>TCA415108735L1CAMc.3490G>A (p.Glu1164Lys)
c.3475G>A (p.Glu1159Lys)
c.190G>A (p.Glu64Lys)
n.453G>A
Xg.153863517_153863518delCA10575511L1CAMc.3489_3490del (p.Glu1164GlyfsTer7)
c.3474_3475del (p.Glu1159GlyfsTer7)
c.189_190del (p.Glu64GlyfsTer7)
n.452_453del
 ClinVar dbSNP
Xg.153863518A=CA2466504686L1CAMc.3489T= (p.Ser1163=)
c.3474T= (p.Ser1158=)
c.189T= (p.Ser63=)
n.452T=
Xg.153863518A>CCA519199832L1CAMc.3489T>G (p.Ser1163=)
c.3474T>G (p.Ser1158=)
c.189T>G (p.Ser63=)
n.452T>G
Xg.153863518A>GCA10553941L1CAMc.3489T>C (p.Ser1163=)
c.3474T>C (p.Ser1158=)
c.189T>C (p.Ser63=)
n.452T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153863518A>TCA519199837L1CAMc.3489T>A (p.Ser1163=)
c.3474T>A (p.Ser1158=)
c.189T>A (p.Ser63=)
n.452T>A
Xg.153863519G>ACA415108776L1CAMc.3488C>T (p.Ser1163Phe)
c.3473C>T (p.Ser1158Phe)
c.188C>T (p.Ser63Phe)
n.451C>T
Xg.153863519G>CCA415108779L1CAMc.3488C>G (p.Ser1163Cys)
c.3473C>G (p.Ser1158Cys)
c.188C>G (p.Ser63Cys)
n.451C>G
Xg.153863519G>TCA415108764L1CAMc.3488C>A (p.Ser1163Tyr)
c.3473C>A (p.Ser1158Tyr)
c.188C>A (p.Ser63Tyr)
n.451C>A
Xg.153863520A>CCA415108783L1CAMc.3487T>G (p.Ser1163Ala)
c.3472T>G (p.Ser1158Ala)
c.187T>G (p.Ser63Ala)
n.450T>G
Xg.153863520A>GCA415108788L1CAMc.3487T>C (p.Ser1163Pro)
c.3472T>C (p.Ser1158Pro)
c.187T>C (p.Ser63Pro)
n.450T>C
Xg.153863520A>TCA415108792L1CAMc.3487T>A (p.Ser1163Thr)
c.3472T>A (p.Ser1158Thr)
c.187T>A (p.Ser63Thr)
n.450T>A
Xg.153863521G>ACA519199852L1CAMc.3486C>T (p.Asp1162=)
c.3471C>T (p.Asp1157=)
c.186C>T (p.Asp62=)
n.449C>T
Xg.153863521G>CCA415108797L1CAMc.3486C>G (p.Asp1162Glu)
c.3471C>G (p.Asp1157Glu)
c.186C>G (p.Asp62Glu)
n.449C>G
Xg.153863521G>TCA415108801L1CAMc.3486C>A (p.Asp1162Glu)
c.3471C>A (p.Asp1157Glu)
c.186C>A (p.Asp62Glu)
n.449C>A
Xg.153863522T>ACA415108807L1CAMc.3485A>T (p.Asp1162Val)
c.3470A>T (p.Asp1157Val)
c.185A>T (p.Asp62Val)
n.448A>T
Xg.153863522T>CCA415108812L1CAMc.3485A>G (p.Asp1162Gly)
c.3470A>G (p.Asp1157Gly)
c.185A>G (p.Asp62Gly)
n.448A>G
Xg.153863522T>GCA415108825L1CAMc.3485A>C (p.Asp1162Ala)
c.3470A>C (p.Asp1157Ala)
c.185A>C (p.Asp62Ala)
n.448A>C
Xg.153863523C>ACA415108828L1CAMc.3484G>T (p.Asp1162Tyr)
c.3469G>T (p.Asp1157Tyr)
c.184G>T (p.Asp62Tyr)
n.447G>T
Xg.153863523C>GCA415108834L1CAMc.3484G>C (p.Asp1162His)
c.3469G>C (p.Asp1157His)
c.184G>C (p.Asp62His)
n.447G>C
Xg.153863523C>TCA415108840L1CAMc.3484G>A (p.Asp1162Asn)
c.3469G>A (p.Asp1157Asn)
c.184G>A (p.Asp62Asn)
n.447G>A
Xg.153863524C>ACA519199882L1CAMc.3483G>T (p.Val1161=)
c.3468G>T (p.Val1156=)
c.183G>T (p.Val61=)
n.446G>T
Xg.153863524C>GCA519199884L1CAMc.3483G>C (p.Val1161=)
c.3468G>C (p.Val1156=)
c.183G>C (p.Val61=)
n.446G>C
Xg.153863524C>TCA519199890L1CAMc.3483G>A (p.Val1161=)
c.3468G>A (p.Val1156=)
c.183G>A (p.Val61=)
n.446G>A
Xg.153863525delCA2579732519L1CAMc.3482del (p.Val1161GlyfsTer8)
c.3467del (p.Val1156GlyfsTer8)
c.182del (p.Val61GlyfsTer8)
n.445del
Xg.153863525A=CA2466504687L1CAMc.3482T= (p.Val1161=)
c.3467T= (p.Val1156=)
c.182T= (p.Val61=)
n.445T=
Xg.153863525A>CCA415108851L1CAMc.3482T>G (p.Val1161Gly)
c.3467T>G (p.Val1156Gly)
c.182T>G (p.Val61Gly)
n.445T>G
Xg.153863525A>GCA415108844L1CAMc.3482T>C (p.Val1161Ala)
c.3467T>C (p.Val1156Ala)
c.182T>C (p.Val61Ala)
n.445T>C
Xg.153863525A>TCA415108847L1CAMc.3482T>A (p.Val1161Glu)
c.3467T>A (p.Val1156Glu)
c.182T>A (p.Val61Glu)
n.445T>A
 dbSNP gnomAD v2 gnomAD v4
Xg.153863526C>ACA415108852L1CAMc.3481G>T (p.Val1161Leu)
c.3466G>T (p.Val1156Leu)
c.181G>T (p.Val61Leu)
n.444G>T
Xg.153863526C>GCA415108853L1CAMc.3481G>C (p.Val1161Leu)
c.3466G>C (p.Val1156Leu)
c.181G>C (p.Val61Leu)
n.444G>C
Xg.153863526C>TCA415108854L1CAMc.3481G>A (p.Val1161Met)
c.3466G>A (p.Val1156Met)
c.181G>A (p.Val61Met)
n.444G>A
Xg.153863527C>ACA415108856L1CAMc.3480G>T (p.Gln1160His)
c.3465G>T (p.Gln1155His)
c.180G>T (p.Gln60His)
n.443G>T
 COSMIC
Xg.153863527C>GCA415108862L1CAMc.3480G>C (p.Gln1160His)
c.3465G>C (p.Gln1155His)
c.180G>C (p.Gln60His)
n.443G>C
Xg.153863527C>TCA519199910L1CAMc.3480G>A (p.Gln1160=)
c.3465G>A (p.Gln1155=)
c.180G>A (p.Gln60=)
n.443G>A
Xg.153863528T>ACA415108867L1CAMc.3479A>T (p.Gln1160Leu)
c.3464A>T (p.Gln1155Leu)
c.179A>T (p.Gln60Leu)
n.442A>T
Xg.153863528T>CCA415108871L1CAMc.3479A>G (p.Gln1160Arg)
c.3464A>G (p.Gln1155Arg)
c.179A>G (p.Gln60Arg)
n.442A>G
Xg.153863528T>GCA415108875L1CAMc.3479A>C (p.Gln1160Pro)
c.3464A>C (p.Gln1155Pro)
c.179A>C (p.Gln60Pro)
n.442A>C
Xg.153863529G>ACA415108879L1CAMc.3478C>T (p.Gln1160Ter)
c.3463C>T (p.Gln1155Ter)
c.178C>T (p.Gln60Ter)
n.441C>T
Xg.153863529G>CCA415108883L1CAMc.3478C>G (p.Gln1160Glu)
c.3463C>G (p.Gln1155Glu)
c.178C>G (p.Gln60Glu)
n.441C>G
Xg.153863529G>TCA415108888L1CAMc.3478C>A (p.Gln1160Lys)
c.3463C>A (p.Gln1155Lys)
c.178C>A (p.Gln60Lys)
n.441C>A
Xg.153863531delCA2579732520L1CAMc.3478del (p.Gln1160ArgfsTer9)
c.3463del (p.Gln1155ArgfsTer9)
c.178del (p.Gln60ArgfsTer9)
n.441del
Xg.153863530G>ACA519199930L1CAMc.3477C>T (p.Thr1159=)
c.3462C>T (p.Thr1154=)
c.177C>T (p.Thr59=)
n.440C>T
Xg.153863530G>CCA519199932L1CAMc.3477C>G (p.Thr1159=)
c.3462C>G (p.Thr1154=)
c.177C>G (p.Thr59=)
n.440C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153863530G=CA2466504688L1CAMc.3477C= (p.Thr1159=)
c.3462C= (p.Thr1154=)
c.177C= (p.Thr59=)
n.440C=
Xg.153863530G>TCA519199928L1CAMc.3477C>A (p.Thr1159=)
c.3462C>A (p.Thr1154=)
c.177C>A (p.Thr59=)
n.440C>A
 ClinVar
Xg.153863531G>ACA415108891L1CAMc.3476C>T (p.Thr1159Ile)
c.3461C>T (p.Thr1154Ile)
c.176C>T (p.Thr59Ile)
n.439C>T
 ClinVar dbSNP
Xg.153863531G>CCA415108892L1CAMc.3476C>G (p.Thr1159Ser)
c.3461C>G (p.Thr1154Ser)
c.176C>G (p.Thr59Ser)
n.439C>G
 dbSNP
Xg.153863531G=CA2466504689L1CAMc.3476C= (p.Thr1159=)
c.3461C= (p.Thr1154=)
c.176C= (p.Thr59=)
n.439C=
Xg.153863531G>TCA415108890L1CAMc.3476C>A (p.Thr1159Asn)
c.3461C>A (p.Thr1154Asn)
c.176C>A (p.Thr59Asn)
n.439C>A
Xg.153863532T>ACA415108900L1CAMc.3475A>T (p.Thr1159Ser)
c.3460A>T (p.Thr1154Ser)
c.175A>T (p.Thr59Ser)
n.438A>T
Xg.153863532T>CCA415108894L1CAMc.3475A>G (p.Thr1159Ala)
c.3460A>G (p.Thr1154Ala)
c.175A>G (p.Thr59Ala)
n.438A>G
Xg.153863532T>GCA415108898L1CAMc.3475A>C (p.Thr1159Pro)
c.3460A>C (p.Thr1154Pro)
c.175A>C (p.Thr59Pro)
n.438A>C
Xg.153863533G>ACA519199950L1CAMc.3474C>T (p.Asp1158=)
c.3459C>T (p.Asp1153=)
c.174C>T (p.Asp58=)
n.437C>T
 ClinVar
Xg.153863533G>CCA415108902L1CAMc.3474C>G (p.Asp1158Glu)
c.3459C>G (p.Asp1153Glu)
c.174C>G (p.Asp58Glu)
n.437C>G
Xg.153863533G>TCA415108903L1CAMc.3474C>A (p.Asp1158Glu)
c.3459C>A (p.Asp1153Glu)
c.174C>A (p.Asp58Glu)
n.437C>A
Xg.153863534T>ACA415108905L1CAMc.3473A>T (p.Asp1158Val)
c.3458A>T (p.Asp1153Val)
c.173A>T (p.Asp58Val)
n.436A>T
Xg.153863534T>CCA415108906L1CAMc.3473A>G (p.Asp1158Gly)
c.3458A>G (p.Asp1153Gly)
c.173A>G (p.Asp58Gly)
n.436A>G
 ClinVar dbSNP gnomAD v4
Xg.153863534T>GCA415108908L1CAMc.3473A>C (p.Asp1158Ala)
c.3458A>C (p.Asp1153Ala)
c.173A>C (p.Asp58Ala)
n.436A>C
Xg.153863534T=CA2466504690L1CAMc.3473A= (p.Asp1158=)
c.3458A= (p.Asp1153=)
c.173A= (p.Asp58=)
n.436A=
Xg.153863535C>ACA415108912L1CAMc.3472G>T (p.Asp1158Tyr)
c.3457G>T (p.Asp1153Tyr)
c.172G>T (p.Asp58Tyr)
n.435G>T
Xg.153863535C>GCA415108914L1CAMc.3472G>C (p.Asp1158His)
c.3457G>C (p.Asp1153His)
c.172G>C (p.Asp58His)
n.435G>C
Xg.153863535C>TCA415108918L1CAMc.3472G>A (p.Asp1158Asn)
c.3457G>A (p.Asp1153Asn)
c.172G>A (p.Asp58Asn)
n.435G>A
Xg.153863536C>ACA415108922L1CAMc.3471G>T (p.Glu1157Asp)
c.3456G>T (p.Glu1152Asp)
c.171G>T (p.Glu57Asp)
n.434G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.153863536C=CA2466504691L1CAMc.3471G= (p.Glu1157=)
c.3456G= (p.Glu1152=)
c.171G= (p.Glu57=)
n.434G=
Xg.153863536C>GCA415108923L1CAMc.3471G>C (p.Glu1157Asp)
c.3456G>C (p.Glu1152Asp)
c.171G>C (p.Glu57Asp)
n.434G>C
Xg.153863536C>TCA519199974L1CAMc.3471G>A (p.Glu1157=)
c.3456G>A (p.Glu1152=)
c.171G>A (p.Glu57=)
n.434G>A
Xg.153863537T>ACA415108926L1CAMc.3470A>T (p.Glu1157Val)
c.3455A>T (p.Glu1152Val)
c.170A>T (p.Glu57Val)
n.433A>T
Xg.153863537T>CCA415108924L1CAMc.3470A>G (p.Glu1157Gly)
c.3455A>G (p.Glu1152Gly)
c.170A>G (p.Glu57Gly)
n.433A>G
 gnomAD v4
Xg.153863537T>GCA415108925L1CAMc.3470A>C (p.Glu1157Ala)
c.3455A>C (p.Glu1152Ala)
c.170A>C (p.Glu57Ala)
n.433A>C
Xg.153863538C>ACA415108927L1CAMc.3469G>T (p.Glu1157Ter)
c.3454G>T (p.Glu1152Ter)
c.169G>T (p.Glu57Ter)
n.432G>T
 dbSNP
Xg.153863538C=CA2466504692L1CAMc.3469G= (p.Glu1157=)
c.3454G= (p.Glu1152=)
c.169G= (p.Glu57=)
n.432G=
Xg.153863538C>GCA415108929L1CAMc.3469G>C (p.Glu1157Gln)
c.3454G>C (p.Glu1152Gln)
c.169G>C (p.Glu57Gln)
n.432G>C
Xg.153863538C>TCA415108931L1CAMc.3469G>A (p.Glu1157Lys)
c.3454G>A (p.Glu1152Lys)
c.169G>A (p.Glu57Lys)
n.432G>A
Xg.153863539C>ACA415108932L1CAMc.3468G>T (p.Lys1156Asn)
c.3453G>T (p.Lys1151Asn)
c.168G>T (p.Lys56Asn)
n.431G>T
Xg.153863539C>GCA415108934L1CAMc.3468G>C (p.Lys1156Asn)
c.3453G>C (p.Lys1151Asn)
c.168G>C (p.Lys56Asn)
n.431G>C
Xg.153863539C>TCA519199996L1CAMc.3468G>A (p.Lys1156=)
c.3453G>A (p.Lys1151=)
c.168G>A (p.Lys56=)
n.431G>A
Xg.153863540T>ACA415108937L1CAMc.3467A>T (p.Lys1156Met)
c.3452A>T (p.Lys1151Met)
c.167A>T (p.Lys56Met)
n.430A>T
Xg.153863540T>CCA415108939L1CAMc.3467A>G (p.Lys1156Arg)
c.3452A>G (p.Lys1151Arg)
c.167A>G (p.Lys56Arg)
n.430A>G
Xg.153863540T>GCA415108942L1CAMc.3467A>C (p.Lys1156Thr)
c.3452A>C (p.Lys1151Thr)
c.167A>C (p.Lys56Thr)
n.430A>C
Xg.153863541T>ACA415108945L1CAMc.3466A>T (p.Lys1156Ter)
c.3451A>T (p.Lys1151Ter)
c.166A>T (p.Lys56Ter)
n.429A>T
Xg.153863541T>CCA415108946L1CAMc.3466A>G (p.Lys1156Glu)
c.3451A>G (p.Lys1151Glu)
c.166A>G (p.Lys56Glu)
n.429A>G
Xg.153863541T>GCA415108949L1CAMc.3466A>C (p.Lys1156Gln)
c.3451A>C (p.Lys1151Gln)
c.166A>C (p.Lys56Gln)
n.429A>C
Xg.153863542A>CCA415108961L1CAMc.3465T>G (p.Asp1155Glu)
c.3450T>G (p.Asp1150Glu)
c.165T>G (p.Asp55Glu)
n.428T>G
Xg.153863542A>GCA519200037L1CAMc.3465T>C (p.Asp1155=)
c.3450T>C (p.Asp1150=)
c.165T>C (p.Asp55=)
n.428T>C
Xg.153863542A>TCA415108963L1CAMc.3465T>A (p.Asp1155Glu)
c.3450T>A (p.Asp1150Glu)
c.165T>A (p.Asp55Glu)
n.428T>A
Xg.153863543T>ACA415108966L1CAMc.3464A>T (p.Asp1155Val)
c.3449A>T (p.Asp1150Val)
c.164A>T (p.Asp55Val)
n.427A>T
Xg.153863543T>CCA415108969L1CAMc.3464A>G (p.Asp1155Gly)
c.3449A>G (p.Asp1150Gly)
c.164A>G (p.Asp55Gly)
n.427A>G
Xg.153863543T>GCA415108971L1CAMc.3464A>C (p.Asp1155Ala)
c.3449A>C (p.Asp1150Ala)
c.164A>C (p.Asp55Ala)
n.427A>C
Xg.153863544C>ACA415108973L1CAMc.3463G>T (p.Asp1155Tyr)
c.3448G>T (p.Asp1150Tyr)
c.163G>T (p.Asp55Tyr)
n.426G>T
 gnomAD v4
Xg.153863544C>GCA415108978L1CAMc.3463G>C (p.Asp1155His)
c.3448G>C (p.Asp1150His)
c.163G>C (p.Asp55His)
n.426G>C
Xg.153863544C>TCA415108981L1CAMc.3463G>A (p.Asp1155Asn)
c.3448G>A (p.Asp1150Asn)
c.163G>A (p.Asp55Asn)
n.426G>A
Xg.153863545C>ACA415108988L1CAMc.3462G>T (p.Lys1154Asn)
c.3447G>T (p.Lys1149Asn)
c.162G>T (p.Lys54Asn)
n.425G>T
 gnomAD v4
Xg.153863545C>GCA415108994L1CAMc.3462G>C (p.Lys1154Asn)
c.3447G>C (p.Lys1149Asn)
c.162G>C (p.Lys54Asn)
n.425G>C
Xg.153863545C>TCA519200059L1CAMc.3462G>A (p.Lys1154=)
c.3447G>A (p.Lys1149=)
c.162G>A (p.Lys54=)
n.425G>A
Xg.153863546T>ACA415108996L1CAMc.3461A>T (p.Lys1154Met)
c.3446A>T (p.Lys1149Met)
c.161A>T (p.Lys54Met)
n.424A>T
Xg.153863546T>CCA415109000L1CAMc.3461A>G (p.Lys1154Arg)
c.3446A>G (p.Lys1149Arg)
c.161A>G (p.Lys54Arg)
n.424A>G
 dbSNP gnomAD v4
Xg.153863546T>GCA415109002L1CAMc.3461A>C (p.Lys1154Thr)
c.3446A>C (p.Lys1149Thr)
c.161A>C (p.Lys54Thr)
n.424A>C
 COSMIC
Xg.153863547T>ACA415109009L1CAMc.3460A>T (p.Lys1154Ter)
c.3445A>T (p.Lys1149Ter)
c.160A>T (p.Lys54Ter)
n.423A>T
Xg.153863547T>CCA415109006L1CAMc.3460A>G (p.Lys1154Glu)
c.3445A>G (p.Lys1149Glu)
c.160A>G (p.Lys54Glu)
n.423A>G
Xg.153863547T>GCA415109005L1CAMc.3460A>C (p.Lys1154Gln)
c.3445A>C (p.Lys1149Gln)
c.160A>C (p.Lys54Gln)
n.423A>C
Xg.153863548C>ACA519200079L1CAMc.3459G>T (p.Val1153=)
c.3444G>T (p.Val1148=)
c.159G>T (p.Val53=)
n.422G>T
Xg.153863548C>GCA519200082L1CAMc.3459G>C (p.Val1153=)
c.3444G>C (p.Val1148=)
c.159G>C (p.Val53=)
n.422G>C
Xg.153863548C>TCA519200086L1CAMc.3459G>A (p.Val1153=)
c.3444G>A (p.Val1148=)
c.159G>A (p.Val53=)
n.422G>A
Xg.153863549A>CCA415109010L1CAMc.3458T>G (p.Val1153Gly)
c.3443T>G (p.Val1148Gly)
c.158T>G (p.Val53Gly)
n.421T>G
Xg.153863549A>GCA415109025L1CAMc.3458T>C (p.Val1153Ala)
c.3443T>C (p.Val1148Ala)
c.158T>C (p.Val53Ala)
n.421T>C
Xg.153863549A>TCA415109028L1CAMc.3458T>A (p.Val1153Glu)
c.3443T>A (p.Val1148Glu)
c.158T>A (p.Val53Glu)
n.421T>A
 dbSNP gnomAD v4
Xg.153863550C>ACA415109031L1CAMc.3458-1G>T (n.3458-1G>T)
c.3443-1G>T (n.3443-1G>T)
c.158-1G>T (n.158-1G>T)
n.420G>T
Xg.153863550C=CA2466504693L1CAMc.3458-1G= (n.3458-1G=)
c.3443-1G= (n.3443-1G=)
c.158-1G= (n.158-1G=)
n.420G=
Xg.153863550C>GCA10575545L1CAMc.3458-1G>C (n.3458-1G>C)
c.3443-1G>C (n.3443-1G>C)
c.158-1G>C (n.158-1G>C)
n.420G>C
 ClinVar dbSNP
Xg.153863550C>TCA415109037L1CAMc.3458-1G>A (n.3458-1G>A)
c.3443-1G>A (n.3443-1G>A)
c.158-1G>A (n.158-1G>A)
n.420G>A
Xg.153863551T>ACA415109042L1CAMc.3458-2A>T (n.3458-2A>T)
c.3443-2A>T (n.3443-2A>T)
c.158-2A>T (n.158-2A>T)
n.419A>T
Xg.153863551T>CCA415109045L1CAMc.3458-2A>G (n.3458-2A>G)
c.3443-2A>G (n.3443-2A>G)
c.158-2A>G (n.158-2A>G)
n.419A>G
Xg.153863551T>GCA415109060L1CAMc.3458-2A>C (n.3458-2A>C)
c.3443-2A>C (n.3443-2A>C)
c.158-2A>C (n.158-2A>C)
n.419A>C
Xg.153863552_153863553insTGTCTCCAGTGAAGCA2695067020L1CAMc.3458-3_3458-2insTTCACTGGAGACAC (n.3458-3_3458-2insTTCACTGGAGACAC)
c.3443-3_3443-2insTTCACTGGAGACAC (n.3443-3_3443-2insTTCACTGGAGACAC)
c.158-3_158-2insTTCACTGGAGACAC (n.158-3_158-2insTTCACTGGAGACAC)
n.418_419insTTCACTGGAGACAC
 gnomAD v4
Xg.153863553G>CCA2500617664L1CAMc.3458-4C>G (n.3458-4C>G)
c.3443-4C>G (n.3443-4C>G)
c.158-4C>G (n.158-4C>G)
n.417C>G
Xg.153863555_153863556delCA2579732521L1CAMc.3458-5_3458-4del (n.3458-5_3458-4del)
c.3443-5_3443-4del (n.3443-5_3443-4del)
c.158-5_158-4del (n.158-5_158-4del)
n.416_417del
Xg.153863554A=CA2466504694L1CAMc.3458-5T= (n.3458-5T=)
c.3443-5T= (n.3443-5T=)
c.158-5T= (n.158-5T=)
n.416T=
Xg.153863554A>CCA1139667901L1CAMc.3458-5T>G (n.3458-5T>G)
c.3443-5T>G (n.3443-5T>G)
c.158-5T>G (n.158-5T>G)
n.416T>G
 ClinVar dbSNP
Xg.153863554A>GCA2579732522L1CAMc.3458-5T>C (n.3458-5T>C)
c.3443-5T>C (n.3443-5T>C)
c.158-5T>C (n.158-5T>C)
n.416T>C
Xg.153863555G>ACA2602662597L1CAMc.3458-6C>T (n.3458-6C>T)
c.3443-6C>T (n.3443-6C>T)
c.158-6C>T (n.158-6C>T)
n.415C>T
 gnomAD v3 gnomAD v4
Xg.153863555G>TCA2551643514L1CAMc.3458-6C>A (n.3458-6C>A)
c.3443-6C>A (n.3443-6C>A)
c.158-6C>A (n.158-6C>A)
n.415C>A
Xg.153863556A>GCA2695067021L1CAMc.3458-7T>C (n.3458-7T>C)
c.3443-7T>C (n.3443-7T>C)
c.158-7T>C (n.158-7T>C)
n.414T>C
 gnomAD v4
Xg.153863556A>TCA2695067022L1CAMc.3458-7T>A (n.3458-7T>A)
c.3443-7T>A (n.3443-7T>A)
c.158-7T>A (n.158-7T>A)
n.414T>A
 gnomAD v4
Xg.153863557C>TCA2739273819L1CAMc.3458-8G>A (n.3458-8G>A)
c.3443-8G>A (n.3443-8G>A)
c.158-8G>A (n.158-8G>A)
n.413G>A
 ClinVar
Xg.153863558A=CA2466504695L1CAMc.3458-9T= (n.3458-9T=)
c.3443-9T= (n.3443-9T=)
c.158-9T= (n.158-9T=)
n.412T=
Xg.153863558A>CCA10553942L1CAMc.3458-9T>G (n.3458-9T>G)
c.3443-9T>G (n.3443-9T>G)
c.158-9T>G (n.158-9T>G)
n.412T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153863558A>GCA2739273820L1CAMc.3458-9T>C (n.3458-9T>C)
c.3443-9T>C (n.3443-9T>C)
c.158-9T>C (n.158-9T>C)
n.412T>C
 ClinVar
Xg.153863559C=CA2466504696L1CAMc.3458-10G= (n.3458-10G=)
c.3443-10G= (n.3443-10G=)
c.158-10G= (n.158-10G=)
n.411G=
Xg.153863559C>TCA2466504697L1CAMc.3458-10G>A (n.3458-10G>A)
c.3443-10G>A (n.3443-10G>A)
c.158-10G>A (n.158-10G>A)
n.411G>A
 dbSNP gnomAD v4
Xg.153863564_153863565delCA2579732523L1CAMc.3458-12_3458-11del (n.3458-12_3458-11del)
c.3443-12_3443-11del (n.3443-12_3443-11del)
c.158-12_158-11del (n.158-12_158-11del)
n.409_410del
Xg.153863562A>TCA2739253072L1CAMc.3458-13T>A (n.3458-13T>A)
c.3443-13T>A (n.3443-13T>A)
c.158-13T>A (n.158-13T>A)
n.408T>A
 dbSNP
Xg.153863563G>ACA2579732524L1CAMc.3458-14C>T (n.3458-14C>T)
c.3443-14C>T (n.3443-14C>T)
c.158-14C>T (n.158-14C>T)
n.407C>T
 gnomAD v4
Xg.153863563G>CCA2695067023L1CAMc.3458-14C>G (n.3458-14C>G)
c.3443-14C>G (n.3443-14C>G)
c.158-14C>G (n.158-14C>G)
n.407C>G
 gnomAD v4
Xg.153863563G>TCA2695067024L1CAMc.3458-14C>A (n.3458-14C>A)
c.3443-14C>A (n.3443-14C>A)
c.158-14C>A (n.158-14C>A)
n.407C>A
 gnomAD v4
Xg.153863565G>ACA10553943L1CAMc.3458-16C>T (n.3458-16C>T)
c.3443-16C>T (n.3443-16C>T)
c.158-16C>T (n.158-16C>T)
n.405C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153863565G=CA2466504698L1CAMc.3458-16C= (n.3458-16C=)
c.3443-16C= (n.3443-16C=)
c.158-16C= (n.158-16C=)
n.405C=
Xg.153863565G>TCA658514871L1CAMc.3458-16C>A (n.3458-16C>A)
c.3443-16C>A (n.3443-16C>A)
c.158-16C>A (n.158-16C>A)
n.405C>A
 COSMIC
Xg.153863567delCA2579732525L1CAMc.3458-16del (n.3458-16del)
c.3443-16del (n.3443-16del)
c.158-16del (n.158-16del)
n.405del
Xg.153863566G>TCA2739253075L1CAMc.3458-17C>A (n.3458-17C>A)
c.3443-17C>A (n.3443-17C>A)
c.158-17C>A (n.158-17C>A)
n.404C>A
 dbSNP
Xg.153863567G>ACA2695067026L1CAMc.3458-18C>T (n.3458-18C>T)
c.3443-18C>T (n.3443-18C>T)
c.158-18C>T (n.158-18C>T)
n.403C>T
 gnomAD v4
Xg.153863567G>CCA2697544830L1CAMc.3458-18C>G (n.3458-18C>G)
c.3443-18C>G (n.3443-18C>G)
c.158-18C>G (n.158-18C>G)
n.403C>G
 ClinVar
Xg.153863567G>TCA2695067025L1CAMc.3458-18C>A (n.3458-18C>A)
c.3443-18C>A (n.3443-18C>A)
c.158-18C>A (n.158-18C>A)
n.403C>A
 gnomAD v4
Xg.153863568A>CCA2545076206L1CAMc.3458-19T>G (n.3458-19T>G)
c.3443-19T>G (n.3443-19T>G)
c.158-19T>G (n.158-19T>G)
n.402T>G
Xg.153863569C>TCA2695067027L1CAMc.3458-20G>A (n.3458-20G>A)
c.3443-20G>A (n.3443-20G>A)
c.158-20G>A (n.158-20G>A)
n.401G>A
 gnomAD v4
Xg.153863571G>ACA2695067028L1CAMc.3458-22C>T (n.3458-22C>T)
c.3443-22C>T (n.3443-22C>T)
c.158-22C>T (n.158-22C>T)
n.399C>T
 gnomAD v4
Xg.153863572C=CA2466504699L1CAMc.3458-23G= (n.3458-23G=)
c.3443-23G= (n.3443-23G=)
c.158-23G= (n.158-23G=)
n.398G=
Xg.153863572C>GCA2534434594L1CAMc.3458-23G>C (n.3458-23G>C)
c.3443-23G>C (n.3443-23G>C)
c.158-23G>C (n.158-23G>C)
n.398G>C
 gnomAD v4
Xg.153863572C>TCA10553944L1CAMc.3458-23G>A (n.3458-23G>A)
c.3443-23G>A (n.3443-23G>A)
c.158-23G>A (n.158-23G>A)
n.398G>A
 dbSNP ExAC gnomAD v4
Xg.153863574T>GCA2543673936L1CAMc.3458-25A>C (n.3458-25A>C)
c.3443-25A>C (n.3443-25A>C)
c.158-25A>C (n.158-25A>C)
n.396A>C
Xg.153863575C>TCA2695067029L1CAMc.3458-26G>A (n.3458-26G>A)
c.3443-26G>A (n.3443-26G>A)
c.158-26G>A (n.158-26G>A)
n.395G>A
 gnomAD v4
Xg.153863577T>CCA2466504701L1CAMc.3458-28A>G (n.3458-28A>G)
c.3443-28A>G (n.3443-28A>G)
c.158-28A>G (n.158-28A>G)
n.393A>G
 dbSNP gnomAD v4
Xg.153863577T=CA2466504700L1CAMc.3458-28A= (n.3458-28A=)
c.3443-28A= (n.3443-28A=)
c.158-28A= (n.158-28A=)
n.393A=
Xg.153863578C>TCA2579732526L1CAMc.3458-29G>A (n.3458-29G>A)
c.3443-29G>A (n.3443-29G>A)
c.158-29G>A (n.158-29G>A)
n.392G>A
Xg.153863581C=CA2466504702L1CAMc.3458-32G= (n.3458-32G=)
c.3443-32G= (n.3443-32G=)
c.158-32G= (n.158-32G=)
n.389G=
Xg.153863581C>TCA2466504703L1CAMc.3458-32G>A (n.3458-32G>A)
c.3443-32G>A (n.3443-32G>A)
c.158-32G>A (n.158-32G>A)
n.389G>A
 dbSNP gnomAD v4
Xg.153863582C>ACA2695067030L1CAMc.3458-33G>T (n.3458-33G>T)
c.3443-33G>T (n.3443-33G>T)
c.158-33G>T (n.158-33G>T)
n.388G>T
 gnomAD v4
Xg.153863582C=CA2466504704L1CAMc.3458-33G= (n.3458-33G=)
c.3443-33G= (n.3443-33G=)
c.158-33G= (n.158-33G=)
n.388G=
Xg.153863582C>TCA10553945L1CAMc.3458-33G>A (n.3458-33G>A)
c.3443-33G>A (n.3443-33G>A)
c.158-33G>A (n.158-33G>A)
n.388G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153863583delCA2579732527L1CAMc.3458-34del (n.3458-34del)
c.3443-34del (n.3443-34del)
c.158-34del (n.158-34del)
n.387del
Xg.153863583G>ACA10553946L1CAMc.3458-34C>T (n.3458-34C>T)
c.3443-34C>T (n.3443-34C>T)
c.158-34C>T (n.158-34C>T)
n.387C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153863583G=CA2466504705L1CAMc.3458-34C= (n.3458-34C=)
c.3443-34C= (n.3443-34C=)
c.158-34C= (n.158-34C=)
n.387C=
Xg.153863583G>TCA2695067031L1CAMc.3458-34C>A (n.3458-34C>A)
c.3443-34C>A (n.3443-34C>A)
c.158-34C>A (n.158-34C>A)
n.387C>A
 gnomAD v4
Xg.153863584C=CA2466504706L1CAMc.3458-35G= (n.3458-35G=)
c.3443-35G= (n.3443-35G=)
c.158-35G= (n.158-35G=)
n.386G=
Xg.153863584C>TCA337257258L1CAMc.3458-35G>A (n.3458-35G>A)
c.3443-35G>A (n.3443-35G>A)
c.158-35G>A (n.158-35G>A)
n.386G>A
 dbSNP gnomAD v4
Xg.153863587delCA2579732528L1CAMc.3458-35del (n.3458-35del)
c.3443-35del (n.3443-35del)
c.158-35del (n.158-35del)
n.386del
 gnomAD v4
Xg.153863585C>ACA2695067032L1CAMc.3458-36G>T (n.3458-36G>T)
c.3443-36G>T (n.3443-36G>T)
c.158-36G>T (n.158-36G>T)
n.385G>T
 gnomAD v4
Xg.153863585C=CA2466504707L1CAMc.3458-36G= (n.3458-36G=)
c.3443-36G= (n.3443-36G=)
c.158-36G= (n.158-36G=)
n.385G=
Xg.153863585C>TCA873283831L1CAMc.3458-36G>A (n.3458-36G>A)
c.3443-36G>A (n.3443-36G>A)
c.158-36G>A (n.158-36G>A)
n.385G>A
 dbSNP gnomAD v4
Xg.153863585_153863603delinsCCCAGCCTGACCCGGGGCTCA2466504708L1CAMc.3458-54_3458-36delinsAGCCCCGGGTCAGGCTGGG (n.3458-54_3458-36delinsAGCCCCGGGTCAGGCTGGG)
c.3443-54_3443-36delinsAGCCCCGGGTCAGGCTGGG (n.3443-54_3443-36delinsAGCCCCGGGTCAGGCTGGG)
c.158-54_158-36delinsAGCCCCGGGTCAGGCTGGG (n.158-54_158-36delinsAGCCCCGGGTCAGGCTGGG)
n.367_385delinsAGCCCCGGGTCAGGCTGGG
Xg.153863586C>ACA2579732529L1CAMc.3458-37G>T (n.3458-37G>T)
c.3443-37G>T (n.3443-37G>T)
c.158-37G>T (n.158-37G>T)
n.384G>T
 gnomAD v4
Xg.153863586C>TCA2579732530L1CAMc.3458-37G>A (n.3458-37G>A)
c.3443-37G>A (n.3443-37G>A)
c.158-37G>A (n.158-37G>A)
n.384G>A
 gnomAD v4
Xg.153863590_153863607delCA920449940L1CAMc.3458-54_3458-37del (n.3458-54_3458-37del)
c.3443-54_3443-37del (n.3443-54_3443-37del)
c.158-54_158-37del (n.158-54_158-37del)
n.367_384del
 dbSNP gnomAD v4
Xg.153863587C>ACA337257260L1CAMc.3458-38G>T (n.3458-38G>T)
c.3443-38G>T (n.3443-38G>T)
c.158-38G>T (n.158-38G>T)
n.383G>T
 dbSNP
Xg.153863587C=CA2466504709L1CAMc.3458-38G= (n.3458-38G=)
c.3443-38G= (n.3443-38G=)
c.158-38G= (n.158-38G=)
n.383G=
Xg.153863587C>TCA10553947L1CAMc.3458-38G>A (n.3458-38G>A)
c.3443-38G>A (n.3443-38G>A)
c.158-38G>A (n.158-38G>A)
n.383G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153863587_153863588insGGGTCCA2695067033L1CAMc.3458-38_3458-37insACCCG (n.3458-38_3458-37insACCCG)
c.3443-38_3443-37insACCCG (n.3443-38_3443-37insACCCG)
c.158-38_158-37insACCCG (n.158-38_158-37insACCCG)
n.383_384insACCCG
 gnomAD v4
Xg.153863587_153863588insGGGTCAGGCTGGGGCGGGCA2695067034L1CAMc.3458-39_3458-38insCCCGCCCCAGCCTGACCC (n.3458-39_3458-38insCCCGCCCCAGCCTGACCC)
c.3443-39_3443-38insCCCGCCCCAGCCTGACCC (n.3443-39_3443-38insCCCGCCCCAGCCTGACCC)
c.158-39_158-38insCCCGCCCCAGCCTGACCC (n.158-39_158-38insCCCGCCCCAGCCTGACCC)
n.382_383insCCCGCCCCAGCCTGACCC
 gnomAD v4
Xg.153863589G>ACA645151037L1CAMc.3458-40C>T (n.3458-40C>T)
c.3443-40C>T (n.3443-40C>T)
c.158-40C>T (n.158-40C>T)
n.381C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.153863589G=CA2466504710L1CAMc.3458-40C= (n.3458-40C=)
c.3443-40C= (n.3443-40C=)
c.158-40C= (n.158-40C=)
n.381C=
Xg.153863589G>TCA2695067035L1CAMc.3458-40C>A (n.3458-40C>A)
c.3443-40C>A (n.3443-40C>A)
c.158-40C>A (n.158-40C>A)
n.381C>A
 gnomAD v4
Xg.153863590C>ACA2579732531L1CAMc.3458-41G>T (n.3458-41G>T)
c.3443-41G>T (n.3443-41G>T)
c.158-41G>T (n.158-41G>T)
n.380G>T
 gnomAD v4
Xg.153863590C>GCA2695067036L1CAMc.3458-41G>C (n.3458-41G>C)
c.3443-41G>C (n.3443-41G>C)
c.158-41G>C (n.158-41G>C)
n.380G>C
 gnomAD v4
Xg.153863593G=CA2466504711L1CAMc.3458-44C= (n.3458-44C=)
c.3443-44C= (n.3443-44C=)
c.158-44C= (n.158-44C=)
n.377C=
Xg.153863593G>TCA645151039L1CAMc.3458-44C>A (n.3458-44C>A)
c.3443-44C>A (n.3443-44C>A)
c.158-44C>A (n.158-44C>A)
n.377C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153863594A>GCA2695067037L1CAMc.3458-45T>C (n.3458-45T>C)
c.3443-45T>C (n.3443-45T>C)
c.158-45T>C (n.158-45T>C)
n.376T>C
 gnomAD v4
Xg.153863594A>TCA2509786050L1CAMc.3458-45T>A (n.3458-45T>A)
c.3443-45T>A (n.3443-45T>A)
c.158-45T>A (n.158-45T>A)
n.376T>A
 gnomAD v4

Number of alleles fetched