Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214945022delCA252479ABCA12,SNHG31c.7323del (p.Val2442SerfsTer22)
c.6369del (p.Val2124SerfsTer22)
n.7623del
n.322-2803del
c.7332del (p.Val2445SerfsTer22)
n.7821del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214945022G>ACA350793592ABCA12,SNHG31c.7322C>T (p.Ser2441Phe)
c.6368C>T (p.Ser2123Phe)
n.7622C>T
n.322-2803G>A
c.7331C>T (p.Ser2444Phe)
n.7820C>T
2g.214945022G>CCA350793593ABCA12,SNHG31c.7322C>G (p.Ser2441Cys)
c.6368C>G (p.Ser2123Cys)
n.7622C>G
n.322-2803G>C
c.7331C>G (p.Ser2444Cys)
n.7820C>G
2g.214945022G>TCA350793594ABCA12,SNHG31c.7322C>A (p.Ser2441Tyr)
c.6368C>A (p.Ser2123Tyr)
n.7622C>A
n.322-2803G>T
c.7331C>A (p.Ser2444Tyr)
n.7820C>A
2g.214945023A>CCA350793595ABCA12,SNHG31c.7321T>G (p.Ser2441Ala)
c.6367T>G (p.Ser2123Ala)
n.7621T>G
n.322-2802A>C
c.7330T>G (p.Ser2444Ala)
n.7819T>G
2g.214945023A>GCA350793596ABCA12,SNHG31c.7321T>C (p.Ser2441Pro)
c.6367T>C (p.Ser2123Pro)
n.7621T>C
n.322-2802A>G
c.7330T>C (p.Ser2444Pro)
n.7819T>C
2g.214945023A>TCA350793597ABCA12,SNHG31c.7321T>A (p.Ser2441Thr)
c.6367T>A (p.Ser2123Thr)
n.7621T>A
n.322-2802A>T
c.7330T>A (p.Ser2444Thr)
n.7819T>A
2g.214945024A>CCA350793598ABCA12,SNHG31c.7320T>G (p.Cys2440Trp)
c.6366T>G (p.Cys2122Trp)
n.7620T>G
n.322-2801A>C
c.7329T>G (p.Cys2443Trp)
n.7818T>G
2g.214945024A>GCA431319342ABCA12,SNHG31c.7320T>C (p.Cys2440=)
c.6366T>C (p.Cys2122=)
n.7620T>C
n.322-2801A>G
c.7329T>C (p.Cys2443=)
n.7818T>C
2g.214945024A>TCA350793599ABCA12,SNHG31c.7320T>A (p.Cys2440Ter)
c.6366T>A (p.Cys2122Ter)
n.7620T>A
n.322-2801A>T
c.7329T>A (p.Cys2443Ter)
n.7818T>A
2g.214945025C>ACA350793600ABCA12,SNHG31c.7319G>T (p.Cys2440Phe)
c.6365G>T (p.Cys2122Phe)
n.7619G>T
n.322-2800C>A
c.7328G>T (p.Cys2443Phe)
n.7817G>T
 dbSNP gnomAD v3 gnomAD v4
2g.214945025C>GCA350793601ABCA12,SNHG31c.7319G>C (p.Cys2440Ser)
c.6365G>C (p.Cys2122Ser)
n.7619G>C
n.322-2800C>G
c.7328G>C (p.Cys2443Ser)
n.7817G>C
2g.214945025C>TCA350793602ABCA12,SNHG31c.7319G>A (p.Cys2440Tyr)
c.6365G>A (p.Cys2122Tyr)
n.7619G>A
n.322-2800C>T
c.7328G>A (p.Cys2443Tyr)
n.7817G>A
 gnomAD v4
2g.214945026A>CCA350793603ABCA12,SNHG31c.7318T>G (p.Cys2440Gly)
c.6364T>G (p.Cys2122Gly)
n.7618T>G
n.322-2799A>C
c.7327T>G (p.Cys2443Gly)
n.7816T>G
2g.214945026A>GCA350793605ABCA12,SNHG31c.7318T>C (p.Cys2440Arg)
c.6364T>C (p.Cys2122Arg)
n.7618T>C
n.322-2799A>G
c.7327T>C (p.Cys2443Arg)
n.7816T>C
 gnomAD v4
2g.214945026A>TCA350793604ABCA12,SNHG31c.7318T>A (p.Cys2440Ser)
c.6364T>A (p.Cys2122Ser)
n.7618T>A
n.322-2799A>T
c.7327T>A (p.Cys2443Ser)
n.7816T>A
2g.214945027T>ACA350793606ABCA12,SNHG31c.7317A>T (p.Lys2439Asn)
c.6363A>T (p.Lys2121Asn)
n.7617A>T
n.322-2798T>A
c.7326A>T (p.Lys2442Asn)
n.7815A>T
2g.214945027T>CCA431319343ABCA12,SNHG31c.7317A>G (p.Lys2439=)
c.6363A>G (p.Lys2121=)
n.7617A>G
n.322-2798T>C
c.7326A>G (p.Lys2442=)
n.7815A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.214945027T>GCA350793607ABCA12,SNHG31c.7317A>C (p.Lys2439Asn)
c.6363A>C (p.Lys2121Asn)
n.7617A>C
n.322-2798T>G
c.7326A>C (p.Lys2442Asn)
n.7815A>C
2g.214945027T=CA1327146203ABCA12,SNHG31c.7317A= (p.Lys2439=)
c.6363A= (p.Lys2121=)
n.7617A=
n.322-2798T=
c.7326A= (p.Lys2442=)
n.7815A=
2g.214945028_214945032dupCA2586971262ABCA12,SNHG31c.7313_7317dup (p.Cys2440ThrfsTer26)
c.6359_6363dup (p.Cys2122ThrfsTer26)
n.7613_7617dup
n.322-2797_322-2793dup
c.7322_7326dup (p.Cys2443ThrfsTer26)
n.7811_7815dup
2g.214945028T>ACA350793608ABCA12,SNHG31c.7316A>T (p.Lys2439Ile)
c.6362A>T (p.Lys2121Ile)
n.7616A>T
n.322-2797T>A
c.7325A>T (p.Lys2442Ile)
n.7814A>T
2g.214945028T>CCA350793609ABCA12,SNHG31c.7316A>G (p.Lys2439Arg)
c.6362A>G (p.Lys2121Arg)
n.7616A>G
n.322-2797T>C
c.7325A>G (p.Lys2442Arg)
n.7814A>G
2g.214945028T>GCA350793610ABCA12,SNHG31c.7316A>C (p.Lys2439Thr)
c.6362A>C (p.Lys2121Thr)
n.7616A>C
n.322-2797T>G
c.7325A>C (p.Lys2442Thr)
n.7814A>C
2g.214945029T>ACA350793611ABCA12,SNHG31c.7315A>T (p.Lys2439Ter)
c.6361A>T (p.Lys2121Ter)
n.7615A>T
n.322-2796T>A
c.7324A>T (p.Lys2442Ter)
n.7813A>T
2g.214945029T>CCA350793612ABCA12,SNHG31c.7315A>G (p.Lys2439Glu)
c.6361A>G (p.Lys2121Glu)
n.7615A>G
n.322-2796T>C
c.7324A>G (p.Lys2442Glu)
n.7813A>G
2g.214945029T>GCA2090688ABCA12,SNHG31c.7315A>C (p.Lys2439Gln)
c.6361A>C (p.Lys2121Gln)
n.7615A>C
n.322-2796T>G
c.7324A>C (p.Lys2442Gln)
n.7813A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214945029T=CA1327146204ABCA12,SNHG31c.7315A= (p.Lys2439=)
c.6361A= (p.Lys2121=)
n.7615A=
n.322-2796T=
c.7324A= (p.Lys2442=)
n.7813A=
2g.214945030G>ACA431319344ABCA12,SNHG31c.7314C>T (p.Asn2438=)
c.6360C>T (p.Asn2120=)
n.7614C>T
n.322-2795G>A
c.7323C>T (p.Asn2441=)
n.7812C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214945030G>CCA350793613ABCA12,SNHG31c.7314C>G (p.Asn2438Lys)
c.6360C>G (p.Asn2120Lys)
n.7614C>G
n.322-2795G>C
c.7323C>G (p.Asn2441Lys)
n.7812C>G
2g.214945030G=CA1327146205ABCA12,SNHG31c.7314C= (p.Asn2438=)
c.6360C= (p.Asn2120=)
n.7614C=
n.322-2795G=
c.7323C= (p.Asn2441=)
n.7812C=
2g.214945030G>TCA350793614ABCA12,SNHG31c.7314C>A (p.Asn2438Lys)
c.6360C>A (p.Asn2120Lys)
n.7614C>A
n.322-2795G>T
c.7323C>A (p.Asn2441Lys)
n.7812C>A
2g.214945031T>ACA350793617ABCA12,SNHG31c.7313A>T (p.Asn2438Ile)
c.6359A>T (p.Asn2120Ile)
n.7613A>T
n.322-2794T>A
c.7322A>T (p.Asn2441Ile)
n.7811A>T
2g.214945031T>CCA350793616ABCA12,SNHG31c.7313A>G (p.Asn2438Ser)
c.6359A>G (p.Asn2120Ser)
n.7613A>G
n.322-2794T>C
c.7322A>G (p.Asn2441Ser)
n.7811A>G
2g.214945031T>GCA350793615ABCA12,SNHG31c.7313A>C (p.Asn2438Thr)
c.6359A>C (p.Asn2120Thr)
n.7613A>C
n.322-2794T>G
c.7322A>C (p.Asn2441Thr)
n.7811A>C
2g.214945032T>ACA350793619ABCA12,SNHG31c.7312A>T (p.Asn2438Tyr)
c.6358A>T (p.Asn2120Tyr)
n.7612A>T
n.322-2793T>A
c.7321A>T (p.Asn2441Tyr)
n.7810A>T
2g.214945032T>CCA2090689ABCA12,SNHG31c.7312A>G (p.Asn2438Asp)
c.6358A>G (p.Asn2120Asp)
n.7612A>G
n.322-2793T>C
c.7321A>G (p.Asn2441Asp)
n.7810A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214945032T>GCA350793618ABCA12,SNHG31c.7312A>C (p.Asn2438His)
c.6358A>C (p.Asn2120His)
n.7612A>C
n.322-2793T>G
c.7321A>C (p.Asn2441His)
n.7810A>C
 gnomAD v4
2g.214945032T=CA1327146206ABCA12,SNHG31c.7312A= (p.Asn2438=)
c.6358A= (p.Asn2120=)
n.7612A=
n.322-2793T=
c.7321A= (p.Asn2441=)
n.7810A=
2g.214945033C>ACA350793620ABCA12,SNHG31c.7311G>T (p.Gln2437His)
c.6357G>T (p.Gln2119His)
n.7611G>T
n.322-2792C>A
c.7320G>T (p.Gln2440His)
n.7809G>T
2g.214945033C>GCA350793621ABCA12,SNHG31c.7311G>C (p.Gln2437His)
c.6357G>C (p.Gln2119His)
n.7611G>C
n.322-2792C>G
c.7320G>C (p.Gln2440His)
n.7809G>C
 gnomAD v4
2g.214945033C>TCA431319345ABCA12,SNHG31c.7311G>A (p.Gln2437=)
c.6357G>A (p.Gln2119=)
n.7611G>A
n.322-2792C>T
c.7320G>A (p.Gln2440=)
n.7809G>A
2g.214945034T>ACA350793622ABCA12,SNHG31c.7310A>T (p.Gln2437Leu)
c.6356A>T (p.Gln2119Leu)
n.7610A>T
n.322-2791T>A
c.7319A>T (p.Gln2440Leu)
n.7808A>T
2g.214945034T>CCA350793623ABCA12,SNHG31c.7310A>G (p.Gln2437Arg)
c.6356A>G (p.Gln2119Arg)
n.7610A>G
n.322-2791T>C
c.7319A>G (p.Gln2440Arg)
n.7808A>G
2g.214945034T>GCA350793624ABCA12,SNHG31c.7310A>C (p.Gln2437Pro)
c.6356A>C (p.Gln2119Pro)
n.7610A>C
n.322-2791T>G
c.7319A>C (p.Gln2440Pro)
n.7808A>C
2g.214945035G>ACA350793625ABCA12,SNHG31c.7309C>T (p.Gln2437Ter)
c.6355C>T (p.Gln2119Ter)
n.7609C>T
n.322-2790G>A
c.7318C>T (p.Gln2440Ter)
n.7807C>T
 dbSNP
2g.214945035G>CCA350793626ABCA12,SNHG31c.7309C>G (p.Gln2437Glu)
c.6355C>G (p.Gln2119Glu)
n.7609C>G
n.322-2790G>C
c.7318C>G (p.Gln2440Glu)
n.7807C>G
2g.214945035G=CA1327146207ABCA12,SNHG31c.7309C= (p.Gln2437=)
c.6355C= (p.Gln2119=)
n.7609C=
n.322-2790G=
c.7318C= (p.Gln2440=)
n.7807C=
2g.214945035G>TCA350793627ABCA12,SNHG31c.7309C>A (p.Gln2437Lys)
c.6355C>A (p.Gln2119Lys)
n.7609C>A
n.322-2790G>T
c.7318C>A (p.Gln2440Lys)
n.7807C>A
 COSMIC
2g.214945036T>ACA431319346ABCA12,SNHG31c.7308A>T (p.Val2436=)
c.6354A>T (p.Val2118=)
n.7608A>T
n.322-2789T>A
c.7317A>T (p.Val2439=)
n.7806A>T

Number of alleles fetched