Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102840493delCA16020972PAHc.1222del (p.Arg408GlyfsTer?)
c.1207del (p.Arg403GlyfsTer?)
n.884del
c.326del
n.737del
c.1165del (p.Arg389GlyfsTer?)
12g.102840493G>ACA251523PAHc.1222C>T (p.Arg408Trp)
c.1207C>T (p.Arg403Trp)
n.884C>T
c.326C>T
n.737C>T
c.1165C>T (p.Arg389Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102840493G>CCA386493081PAHc.1222C>G (p.Arg408Gly)
c.1207C>G (p.Arg403Gly)
n.884C>G
c.326C>G
n.737C>G
c.1165C>G (p.Arg389Gly)
12g.102840493G=CA2059441944PAHc.1222C= (p.Arg408=)
c.1207C= (p.Arg403=)
n.884C=
c.326C=
n.737C=
c.1165C= (p.Arg389=)
12g.102840493G>TCA481375385PAHc.1222C>A (p.Arg408=)
c.1207C>A (p.Arg403=)
n.884C>A
c.326C>A
n.737C>A
c.1165C>A (p.Arg389=)
12g.102840494A>CCA481375386PAHc.1221T>G (p.Pro407=)
c.1206T>G (p.Pro402=)
n.883T>G
c.325T>G
n.736T>G
c.1164T>G (p.Pro388=)
12g.102840494A>GCA481375387PAHc.1221T>C (p.Pro407=)
c.1206T>C (p.Pro402=)
n.883T>C
c.325T>C
n.736T>C
c.1164T>C (p.Pro388=)
gnomAD v4
12g.102840494A>TCA481375388PAHc.1221T>A (p.Pro407=)
c.1206T>A (p.Pro402=)
n.883T>A
c.325T>A
n.736T>A
c.1164T>A (p.Pro388=)
gnomAD v4
12g.102840494_102840495delinsAGCA2059441948PAHc.1220_1221delinsCT (p.Pro407=)
c.1205_1206delinsCT (p.Pro402=)
n.882_883delinsCT
c.324_325delinsCT
n.735_736delinsCT
c.1163_1164delinsCT (p.Pro388=)
12g.102840495G>ACA229402PAHc.1220C>T (p.Pro407Leu)
c.1205C>T (p.Pro402Leu)
n.882C>T
c.324C>T
n.735C>T
c.1163C>T (p.Pro388Leu)
ClinVar dbSNP
12g.102840495G>CCA386493082PAHc.1220C>G (p.Pro407Arg)
c.1205C>G (p.Pro402Arg)
n.882C>G
c.324C>G
n.735C>G
c.1163C>G (p.Pro388Arg)
12g.102840495G=CA2059441966PAHc.1220C= (p.Pro407=)
c.1205C= (p.Pro402=)
n.882C=
c.324C=
n.735C=
c.1163C= (p.Pro388=)
12g.102840495G>TCA386493083PAHc.1220C>A (p.Pro407His)
c.1205C>A (p.Pro402His)
n.882C>A
c.324C>A
n.735C>A
c.1163C>A (p.Pro388His)
12g.102840496delCA229403PAHc.1220del (p.Pro407LeufsTer?)
c.1205del (p.Pro402LeufsTer?)
n.882del
c.324del
n.735del
c.1163del (p.Pro388LeufsTer?)
ClinVar dbSNP
12g.102840495_102840499delCA2695217221PAHc.1216_1220del (p.Ile406SerfsTer15)
c.1201_1205del (p.Ile401SerfsTer15)
n.878_882del
c.320_324del
n.731_735del
c.1159_1163del (p.Ile387SerfsTer15)
12g.102840495_102840500delinsGGTATTCA2059441961PAHc.1215_1220delinsAATACC (p.Thr405=)
c.1200_1205delinsAATACC (p.Thr400=)
n.877_882delinsAATACC
c.319_324delinsAATACC
n.730_735delinsAATACC
c.1158_1163delinsAATACC (p.Thr386=)
12g.102840496G>ACA229400PAHc.1219C>T (p.Pro407Ser)
c.1204C>T (p.Pro402Ser)
n.881C>T
c.323C>T
n.734C>T
c.1162C>T (p.Pro388Ser)
ClinVar dbSNP gnomAD v4
12g.102840496G>CCA386493084PAHc.1219C>G (p.Pro407Ala)
c.1204C>G (p.Pro402Ala)
n.881C>G
c.323C>G
n.734C>G
c.1162C>G (p.Pro388Ala)
12g.102840496G=CA2059441978PAHc.1219C= (p.Pro407=)
c.1204C= (p.Pro402=)
n.881C=
c.323C=
n.734C=
c.1162C= (p.Pro388=)
12g.102840496G>TCA386493085PAHc.1219C>A (p.Pro407Thr)
c.1204C>A (p.Pro402Thr)
n.881C>A
c.323C>A
n.734C>A
c.1162C>A (p.Pro388Thr)
12g.102840498_102840502delCA16020971PAHc.1215_1219del (p.Ile406SerfsTer15)
c.1200_1204del (p.Ile401SerfsTer15)
n.877_881del
c.319_323del
n.730_734del
c.1158_1162del (p.Ile387SerfsTer15)
ClinVar dbSNP
12g.102840497T>ACA481375389PAHc.1218A>T (p.Ile406=)
c.1203A>T (p.Ile401=)
n.880A>T
c.322A>T
n.733A>T
c.1161A>T (p.Ile387=)
12g.102840497T>CCA6748708PAHc.1218A>G (p.Ile406Met)
c.1203A>G (p.Ile401Met)
n.880A>G
c.322A>G
n.733A>G
c.1161A>G (p.Ile387Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102840497T>GCA481375390PAHc.1218A>C (p.Ile406=)
c.1203A>C (p.Ile401=)
n.880A>C
c.322A>C
n.733A>C
c.1161A>C (p.Ile387=)
12g.102840497T=CA2059441989PAHc.1218A= (p.Ile406=)
c.1203A= (p.Ile401=)
n.880A=
c.322A=
n.733A=
c.1161A= (p.Ile387=)
12g.102840498A=CA2059442004PAHc.1217T= (p.Ile406=)
c.1202T= (p.Ile401=)
n.879T=
c.321T=
n.732T=
c.1160T= (p.Ile387=)
12g.102840498A>CCA386493086PAHc.1217T>G (p.Ile406Arg)
c.1202T>G (p.Ile401Arg)
n.879T>G
c.321T>G
n.732T>G
c.1160T>G (p.Ile387Arg)
12g.102840498A>GCA229398PAHc.1217T>C (p.Ile406Thr)
c.1202T>C (p.Ile401Thr)
n.879T>C
c.321T>C
n.732T>C
c.1160T>C (p.Ile387Thr)
ClinVar dbSNP
12g.102840498A>TCA386493087PAHc.1217T>A (p.Ile406Lys)
c.1202T>A (p.Ile401Lys)
n.879T>A
c.321T>A
n.732T>A
c.1160T>A (p.Ile387Lys)
12g.102840499T>ACA386493088PAHc.1216A>T (p.Ile406Leu)
c.1201A>T (p.Ile401Leu)
n.878A>T
c.320A>T
n.731A>T
c.1159A>T (p.Ile387Leu)
12g.102840499T>CCA6748709PAHc.1216A>G (p.Ile406Val)
c.1201A>G (p.Ile401Val)
n.878A>G
c.320A>G
n.731A>G
c.1159A>G (p.Ile387Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102840499T>GCA386493089PAHc.1216A>C (p.Ile406Leu)
c.1201A>C (p.Ile401Leu)
n.878A>C
c.320A>C
n.731A>C
c.1159A>C (p.Ile387Leu)
12g.102840499T=CA2059442033PAHc.1216A= (p.Ile406=)
c.1201A= (p.Ile401=)
n.878A=
c.320A=
n.731A=
c.1159A= (p.Ile387=)
12g.102840500T>ACA481375392PAHc.1215A>T (p.Thr405=)
c.1200A>T (p.Thr400=)
n.877A>T
c.319A>T
n.730A>T
c.1158A>T (p.Thr386=)
dbSNP gnomAD v2 gnomAD v4
12g.102840500T>CCA6748710PAHc.1215A>G (p.Thr405=)
c.1200A>G (p.Thr400=)
n.877A>G
c.319A>G
n.730A>G
c.1158A>G (p.Thr386=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.102840500T>GCA481375391PAHc.1215A>C (p.Thr405=)
c.1200A>C (p.Thr400=)
n.877A>C
c.319A>C
n.730A>C
c.1158A>C (p.Thr386=)
12g.102840500T=CA2059442037PAHc.1215A= (p.Thr405=)
c.1200A= (p.Thr400=)
n.877A=
c.319A=
n.730A=
c.1158A= (p.Thr386=)
12g.102840501G>ACA386493090PAHc.1214C>T (p.Thr405Ile)
c.1199C>T (p.Thr400Ile)
n.876C>T
c.318C>T
n.729C>T
c.1157C>T (p.Thr386Ile)
12g.102840501G>CCA386493091PAHc.1214C>G (p.Thr405Arg)
c.1199C>G (p.Thr400Arg)
n.876C>G
c.318C>G
n.729C>G
c.1157C>G (p.Thr386Arg)
12g.102840501G>TCA386493092PAHc.1214C>A (p.Thr405Lys)
c.1199C>A (p.Thr400Lys)
n.876C>A
c.318C>A
n.729C>A
c.1157C>A (p.Thr386Lys)
12g.102840502T>ACA386493095PAHc.1213A>T (p.Thr405Ser)
c.1198A>T (p.Thr400Ser)
n.875A>T
c.317A>T
n.728A>T
c.1156A>T (p.Thr386Ser)
12g.102840502T>CCA386493094PAHc.1213A>G (p.Thr405Ala)
c.1198A>G (p.Thr400Ala)
n.875A>G
c.317A>G
n.728A>G
c.1156A>G (p.Thr386Ala)
12g.102840502T>GCA386493093PAHc.1213A>C (p.Thr405Pro)
c.1198A>C (p.Thr400Pro)
n.875A>C
c.317A>C
n.728A>C
c.1156A>C (p.Thr386Pro)
12g.102840503G>ACA481375393PAHc.1212C>T (p.Ala404=)
c.1197C>T (p.Ala399=)
n.874C>T
c.316C>T
n.727C>T
c.1155C>T (p.Ala385=)
12g.102840503G>CCA481375394PAHc.1212C>G (p.Ala404=)
c.1197C>G (p.Ala399=)
n.874C>G
c.316C>G
n.727C>G
c.1155C>G (p.Ala385=)
12g.102840503G>TCA481375395PAHc.1212C>A (p.Ala404=)
c.1197C>A (p.Ala399=)
n.874C>A
c.316C>A
n.727C>A
c.1155C>A (p.Ala385=)
12g.102840504G>ACA386493096PAHc.1211C>T (p.Ala404Val)
c.1196C>T (p.Ala399Val)
n.873C>T
c.315C>T
n.726C>T
c.1154C>T (p.Ala385Val)
gnomAD v4
12g.102840504G>CCA386493098PAHc.1211C>G (p.Ala404Gly)
c.1196C>G (p.Ala399Gly)
n.873C>G
c.315C>G
n.726C>G
c.1154C>G (p.Ala385Gly)
12g.102840504G>TCA386493097PAHc.1211C>A (p.Ala404Asp)
c.1196C>A (p.Ala399Asp)
n.873C>A
c.315C>A
n.726C>A
c.1154C>A (p.Ala385Asp)
12g.102840505C>ACA386493099PAHc.1210G>T (p.Ala404Ser)
c.1195G>T (p.Ala399Ser)
n.872G>T
c.314G>T
n.725G>T
c.1153G>T (p.Ala385Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched