Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.28399645G>ACA8458135SARM1,SLC46A1c.*3359G>A (n.*3359G>A)
c.*11C>T (n.*11C>T)
c.275C>T
c.1150C>T (p.Pro384Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28399645G=CA2254286639SARM1,SLC46A1c.*3359G= (n.*3359G=)
c.*11C= (n.*11C=)
c.275C=
c.1150C= (p.Pro384=)
17g.28399646T>CCA2576207355SARM1,SLC46A1c.*3360T>C (n.*3360T>C)
c.*10A>G (n.*10A>G)
c.274A>G
c.1149A>G (p.Gly383=)
 gnomAD v4
17g.28399647C>GCA2636827288SARM1,SLC46A1c.*3361C>G (n.*3361C>G)
c.*9G>C (n.*9G>C)
c.273G>C
c.1148G>C (p.Gly383Ala)
 gnomAD v4
17g.28399648C=CA2254286640SARM1,SLC46A1c.*3362C= (n.*3362C=)
c.*8G= (n.*8G=)
c.272G=
c.1147G= (p.Gly383=)
17g.28399648C>TCA8458136SARM1,SLC46A1c.*3362C>T (n.*3362C>T)
c.*8G>A (n.*8G>A)
c.272G>A
c.1147G>A (p.Gly383Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399651G>ACA625382578SARM1,SLC46A1c.*3365G>A (n.*3365G>A)
c.*5C>T (n.*5C>T)
c.269C>T
c.1144C>T (p.Pro382Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28399651G=CA2254286641SARM1,SLC46A1c.*3365G= (n.*3365G=)
c.*5C= (n.*5C=)
c.269C=
c.1144C= (p.Pro382=)
17g.28399652C>ACA10645194SARM1,SLC46A1c.*3366C>A (n.*3366C>A)
c.*4G>T (n.*4G>T)
c.268G>T
c.1143G>T (p.Leu381=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.28399652C=CA2254286642SARM1,SLC46A1c.*3366C= (n.*3366C=)
c.*4G= (n.*4G=)
c.268G=
c.1143G= (p.Leu381=)
17g.28399652C>TCA2636827289SARM1,SLC46A1c.*3366C>T (n.*3366C>T)
c.*4G>A (n.*4G>A)
c.268G>A
c.1143G>A (p.Leu381=)
 gnomAD v4
17g.28399654G>CCA727736064SARM1,SLC46A1c.*3368G>C (n.*3368G>C)
c.*2C>G (n.*2C>G)
c.266C>G
c.1141C>G (p.Leu381Val)
 dbSNP
17g.28399654G=CA2254286643SARM1,SLC46A1c.*3368G= (n.*3368G=)
c.*2C= (n.*2C=)
c.266C=
c.1141C= (p.Leu381=)
17g.28399656T>ACA398340721SARM1,SLC46A1c.*3370T>A (n.*3370T>A)
c.1380A>T (p.Ter460Cys)
c.264A>T
c.1296A>T (p.Ter432Cys)
c.1139A>T (p.Asp380Val)
c.1158A>T (p.Ter386Cys)
17g.28399656T>CCA398340727SARM1,SLC46A1c.*3370T>C (n.*3370T>C)
c.1380A>G (p.Ter460Trp)
c.264A>G
c.1296A>G (p.Ter432Trp)
c.1139A>G (p.Asp380Gly)
c.1158A>G (p.Ter386Trp)
17g.28399656T>GCA398340728SARM1,SLC46A1c.*3370T>G (n.*3370T>G)
c.1380A>C (p.Ter460Cys)
c.264A>C
c.1296A>C (p.Ter432Cys)
c.1139A>C (p.Asp380Ala)
c.1158A>C (p.Ter386Cys)
17g.28399657C>ACA398340730SARM1,SLC46A1c.*3371C>A (n.*3371C>A)
c.1379G>T (p.Ter460Leu)
c.263G>T
c.1295G>T (p.Ter432Leu)
c.1138G>T (p.Asp380Tyr)
c.1157G>T (p.Ter386Leu)
17g.28399657C>GCA398340735SARM1,SLC46A1c.*3371C>G (n.*3371C>G)
c.1379G>C (p.Ter460Ser)
c.263G>C
c.1295G>C (p.Ter432Ser)
c.1138G>C (p.Asp380His)
c.1157G>C (p.Ter386Ser)
17g.28399657C>TCA499092394SARM1,SLC46A1c.*3371C>T (n.*3371C>T)
c.1379G>A (p.Ter460=)
c.263G>A
c.1295G>A (p.Ter432=)
c.1138G>A (p.Asp380Asn)
c.1157G>A (p.Ter386=)
17g.28399658A=CA2254286644SARM1,SLC46A1c.*3372A= (n.*3372A=)
c.1378T= (p.Ter460=)
c.262T=
c.1294T= (p.Ter432=)
c.1137T= (p.Pro379=)
c.1156T= (p.Ter386=)
17g.28399658A>CCA398340737SARM1,SLC46A1c.*3372A>C (n.*3372A>C)
c.1378T>G (p.Ter460Gly)
c.262T>G
c.1294T>G (p.Ter432Gly)
c.1137T>G (p.Pro379=)
c.1156T>G (p.Ter386Gly)
17g.28399658A>GCA398340740SARM1,SLC46A1c.*3372A>G (n.*3372A>G)
c.1378T>C (p.Ter460Arg)
c.262T>C
c.1294T>C (p.Ter432Arg)
c.1137T>C (p.Pro379=)
c.1156T>C (p.Ter386Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.28399658A>TCA398340749SARM1,SLC46A1c.*3372A>T (n.*3372A>T)
c.1378T>A (p.Ter460Arg)
c.262T>A
c.1294T>A (p.Ter432Arg)
c.1137T>A (p.Pro379=)
c.1156T>A (p.Ter386Arg)
17g.28399659G>ACA499092398SARM1,SLC46A1c.*3373G>A (n.*3373G>A)
c.1377C>T (p.Pro459=)
c.261C>T
c.1293C>T (p.Pro431=)
c.1136C>T (p.Pro379Leu)
c.1155C>T (p.Pro385=)
17g.28399659G>CCA499092396SARM1,SLC46A1c.*3373G>C (n.*3373G>C)
c.1377C>G (p.Pro459=)
c.261C>G
c.1293C>G (p.Pro431=)
c.1136C>G (p.Pro379Arg)
c.1155C>G (p.Pro385=)
17g.28399659G>TCA499092397SARM1,SLC46A1c.*3373G>T (n.*3373G>T)
c.1377C>A (p.Pro459=)
c.261C>A
c.1293C>A (p.Pro431=)
c.1136C>A (p.Pro379His)
c.1155C>A (p.Pro385=)
17g.28399660G>ACA398340752SARM1,SLC46A1c.*3374G>A (n.*3374G>A)
c.1376C>T (p.Pro459Leu)
c.260C>T
c.1292C>T (p.Pro431Leu)
c.1135C>T (p.Pro379Ser)
c.1154C>T (p.Pro385Leu)
17g.28399660G>CCA398340754SARM1,SLC46A1c.*3374G>C (n.*3374G>C)
c.1376C>G (p.Pro459Arg)
c.260C>G
c.1292C>G (p.Pro431Arg)
c.1135C>G (p.Pro379Ala)
c.1154C>G (p.Pro385Arg)
17g.28399660G>TCA398340758SARM1,SLC46A1c.*3374G>T (n.*3374G>T)
c.1376C>A (p.Pro459His)
c.260C>A
c.1292C>A (p.Pro431His)
c.1135C>A (p.Pro379Thr)
c.1154C>A (p.Pro385His)
17g.28399661G>ACA398340793SARM1,SLC46A1c.*3375G>A (n.*3375G>A)
c.1375C>T (p.Pro459Ser)
c.259C>T
c.1291C>T (p.Pro431Ser)
c.1134C>T (p.Ala378=)
c.1153C>T (p.Pro385Ser)
 gnomAD v4
17g.28399661G>CCA398340761SARM1,SLC46A1c.*3375G>C (n.*3375G>C)
c.1375C>G (p.Pro459Ala)
c.259C>G
c.1291C>G (p.Pro431Ala)
c.1134C>G (p.Ala378=)
c.1153C>G (p.Pro385Ala)
17g.28399661G>TCA398340777SARM1,SLC46A1c.*3375G>T (n.*3375G>T)
c.1375C>A (p.Pro459Thr)
c.259C>A
c.1291C>A (p.Pro431Thr)
c.1134C>A (p.Ala378=)
c.1153C>A (p.Pro385Thr)
17g.28399662G>ACA499092400SARM1,SLC46A1c.*3376G>A (n.*3376G>A)
c.1374C>T (p.Ser458=)
c.258C>T
c.1290C>T (p.Ser430=)
c.1133C>T (p.Ala378Val)
c.1152C>T (p.Ser384=)
 gnomAD v4
17g.28399662G>CCA398340798SARM1,SLC46A1c.*3376G>C (n.*3376G>C)
c.1374C>G (p.Ser458Arg)
c.258C>G
c.1290C>G (p.Ser430Arg)
c.1133C>G (p.Ala378Gly)
c.1152C>G (p.Ser384Arg)
17g.28399662G=CA2254286645SARM1,SLC46A1c.*3376G= (n.*3376G=)
c.1374C= (p.Ser458=)
c.258C=
c.1290C= (p.Ser430=)
c.1133C= (p.Ala378=)
c.1152C= (p.Ser384=)
17g.28399662G>TCA289112369SARM1,SLC46A1c.*3376G>T (n.*3376G>T)
c.1374C>A (p.Ser458Arg)
c.258C>A
c.1290C>A (p.Ser430Arg)
c.1133C>A (p.Ala378Asp)
c.1152C>A (p.Ser384Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.28399663C>ACA398340808SARM1,SLC46A1c.*3377C>A (n.*3377C>A)
c.1373G>T (p.Ser458Ile)
c.257G>T
c.1289G>T (p.Ser430Ile)
c.1132G>T (p.Ala378Ser)
c.1151G>T (p.Ser384Ile)
17g.28399663C=CA2254286646SARM1,SLC46A1c.*3377C= (n.*3377C=)
c.1373G= (p.Ser458=)
c.257G=
c.1289G= (p.Ser430=)
c.1132G= (p.Ala378=)
c.1151G= (p.Ser384=)
17g.28399663C>GCA398340811SARM1,SLC46A1c.*3377C>G (n.*3377C>G)
c.1373G>C (p.Ser458Thr)
c.257G>C
c.1289G>C (p.Ser430Thr)
c.1132G>C (p.Ala378Pro)
c.1151G>C (p.Ser384Thr)
17g.28399663C>TCA8458137SARM1,SLC46A1c.*3377C>T (n.*3377C>T)
c.1373G>A (p.Ser458Asn)
c.257G>A
c.1289G>A (p.Ser430Asn)
c.1132G>A (p.Ala378Thr)
c.1151G>A (p.Ser384Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399664T>ACA398340819SARM1,SLC46A1c.*3378T>A (n.*3378T>A)
c.1372A>T (p.Ser458Cys)
c.256A>T
c.1288A>T (p.Ser430Cys)
c.1131A>T (p.Arg377Ser)
c.1150A>T (p.Ser384Cys)
 gnomAD v4
17g.28399664T>CCA398340821SARM1,SLC46A1c.*3378T>C (n.*3378T>C)
c.1372A>G (p.Ser458Gly)
c.256A>G
c.1288A>G (p.Ser430Gly)
c.1131A>G (p.Arg377=)
c.1150A>G (p.Ser384Gly)
17g.28399664T>GCA398340820SARM1,SLC46A1c.*3378T>G (n.*3378T>G)
c.1372A>C (p.Ser458Arg)
c.256A>C
c.1288A>C (p.Ser430Arg)
c.1131A>C (p.Arg377Ser)
c.1150A>C (p.Ser384Arg)
17g.28399665C>ACA398340822SARM1,SLC46A1c.*3379C>A (n.*3379C>A)
c.1371G>T (p.Gln457His)
c.255G>T
c.1287G>T (p.Gln429His)
c.1130G>T (p.Arg377Ile)
c.1149G>T (p.Gln383His)
17g.28399665C>GCA398340824SARM1,SLC46A1c.*3379C>G (n.*3379C>G)
c.1371G>C (p.Gln457His)
c.255G>C
c.1287G>C (p.Gln429His)
c.1130G>C (p.Arg377Thr)
c.1149G>C (p.Gln383His)
17g.28399665C>TCA499092401SARM1,SLC46A1c.*3379C>T (n.*3379C>T)
c.1371G>A (p.Gln457=)
c.255G>A
c.1287G>A (p.Gln429=)
c.1130G>A (p.Arg377Lys)
c.1149G>A (p.Gln383=)
 COSMIC
17g.28399666T>ACA398340829SARM1,SLC46A1c.*3380T>A (n.*3380T>A)
c.1370A>T (p.Gln457Leu)
c.254A>T
c.1286A>T (p.Gln429Leu)
c.1129A>T (p.Arg377Ter)
c.1148A>T (p.Gln383Leu)
17g.28399666T>CCA398340835SARM1,SLC46A1c.*3380T>C (n.*3380T>C)
c.1370A>G (p.Gln457Arg)
c.254A>G
c.1286A>G (p.Gln429Arg)
c.1129A>G (p.Arg377Gly)
c.1148A>G (p.Gln383Arg)
17g.28399666T>GCA398340840SARM1,SLC46A1c.*3380T>G (n.*3380T>G)
c.1370A>C (p.Gln457Pro)
c.254A>C
c.1286A>C (p.Gln429Pro)
c.1129A>C (p.Arg377=)
c.1148A>C (p.Gln383Pro)
17g.28399667G>ACA398340846SARM1,SLC46A1c.*3381G>A (n.*3381G>A)
c.1369C>T (p.Gln457Ter)
c.253C>T
c.1285C>T (p.Gln429Ter)
c.1128C>T (p.Pro376=)
c.1147C>T (p.Gln383Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28399667G>CCA398340847SARM1,SLC46A1c.*3381G>C (n.*3381G>C)
c.1369C>G (p.Gln457Glu)
c.253C>G
c.1285C>G (p.Gln429Glu)
c.1128C>G (p.Pro376=)
c.1147C>G (p.Gln383Glu)
17g.28399667G=CA2254286647SARM1,SLC46A1c.*3381G= (n.*3381G=)
c.1369C= (p.Gln457=)
c.253C=
c.1285C= (p.Gln429=)
c.1128C= (p.Pro376=)
c.1147C= (p.Gln383=)
17g.28399667G>TCA398340849SARM1,SLC46A1c.*3381G>T (n.*3381G>T)
c.1369C>A (p.Gln457Lys)
c.253C>A
c.1285C>A (p.Gln429Lys)
c.1128C>A (p.Pro376=)
c.1147C>A (p.Gln383Lys)
17g.28399668G>ACA499092403SARM1,SLC46A1c.*3382G>A (n.*3382G>A)
c.1368C>T (p.Pro456=)
c.252C>T
c.1284C>T (p.Pro428=)
c.1127C>T (p.Pro376Leu)
c.1146C>T (p.Pro382=)
17g.28399668G>CCA499092405SARM1,SLC46A1c.*3382G>C (n.*3382G>C)
c.1368C>G (p.Pro456=)
c.252C>G
c.1284C>G (p.Pro428=)
c.1127C>G (p.Pro376Arg)
c.1146C>G (p.Pro382=)
 dbSNP
17g.28399668G=CA2254286648SARM1,SLC46A1c.*3382G= (n.*3382G=)
c.1368C= (p.Pro456=)
c.252C=
c.1284C= (p.Pro428=)
c.1127C= (p.Pro376=)
c.1146C= (p.Pro382=)
17g.28399668G>TCA499092406SARM1,SLC46A1c.*3382G>T (n.*3382G>T)
c.1368C>A (p.Pro456=)
c.252C>A
c.1284C>A (p.Pro428=)
c.1127C>A (p.Pro376His)
c.1146C>A (p.Pro382=)
17g.28399669G>ACA10649778SARM1,SLC46A1c.*3383G>A (n.*3383G>A)
c.1367C>T (p.Pro456Leu)
c.251C>T
c.1283C>T (p.Pro428Leu)
c.1126C>T (p.Pro376Ser)
c.1145C>T (p.Pro382Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.28399669G>CCA398340867SARM1,SLC46A1c.*3383G>C (n.*3383G>C)
c.1367C>G (p.Pro456Arg)
c.251C>G
c.1283C>G (p.Pro428Arg)
c.1126C>G (p.Pro376Ala)
c.1145C>G (p.Pro382Arg)
 gnomAD v4
17g.28399669G=CA2254286649SARM1,SLC46A1c.*3383G= (n.*3383G=)
c.1367C= (p.Pro456=)
c.251C=
c.1283C= (p.Pro428=)
c.1126C= (p.Pro376=)
c.1145C= (p.Pro382=)
17g.28399669G>TCA398340869SARM1,SLC46A1c.*3383G>T (n.*3383G>T)
c.1367C>A (p.Pro456His)
c.251C>A
c.1283C>A (p.Pro428His)
c.1126C>A (p.Pro376Thr)
c.1145C>A (p.Pro382His)
17g.28399670G>ACA8458138SARM1,SLC46A1c.*3384G>A (n.*3384G>A)
c.1366C>T (p.Pro456Ser)
c.250C>T
c.1282C>T (p.Pro428Ser)
c.1125C>T (p.Phe375=)
c.1144C>T (p.Pro382Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399670G>CCA398340873SARM1,SLC46A1c.*3384G>C (n.*3384G>C)
c.1366C>G (p.Pro456Ala)
c.250C>G
c.1282C>G (p.Pro428Ala)
c.1125C>G (p.Phe375Leu)
c.1144C>G (p.Pro382Ala)
17g.28399670G=CA2254286650SARM1,SLC46A1c.*3384G= (n.*3384G=)
c.1366C= (p.Pro456=)
c.250C=
c.1282C= (p.Pro428=)
c.1125C= (p.Phe375=)
c.1144C= (p.Pro382=)
17g.28399670G>TCA398340871SARM1,SLC46A1c.*3384G>T (n.*3384G>T)
c.1366C>A (p.Pro456Thr)
c.250C>A
c.1282C>A (p.Pro428Thr)
c.1125C>A (p.Phe375Leu)
c.1144C>A (p.Pro382Thr)
17g.28399671A>CCA398340877SARM1,SLC46A1c.*3385A>C (n.*3385A>C)
c.1365T>G (p.Phe455Leu)
c.249T>G
c.1281T>G (p.Phe427Leu)
c.1124T>G (p.Phe375Cys)
c.1143T>G (p.Phe381Leu)
17g.28399671A>GCA499092407SARM1,SLC46A1c.*3385A>G (n.*3385A>G)
c.1365T>C (p.Phe455=)
c.249T>C
c.1281T>C (p.Phe427=)
c.1124T>C (p.Phe375Ser)
c.1143T>C (p.Phe381=)
17g.28399671A>TCA398340880SARM1,SLC46A1c.*3385A>T (n.*3385A>T)
c.1365T>A (p.Phe455Leu)
c.249T>A
c.1281T>A (p.Phe427Leu)
c.1124T>A (p.Phe375Tyr)
c.1143T>A (p.Phe381Leu)
17g.28399672A>CCA398340881SARM1,SLC46A1c.*3386A>C (n.*3386A>C)
c.1364T>G (p.Phe455Cys)
c.248T>G
c.1280T>G (p.Phe427Cys)
c.1123T>G (p.Phe375Val)
c.1142T>G (p.Phe381Cys)
17g.28399672A>GCA398340887SARM1,SLC46A1c.*3386A>G (n.*3386A>G)
c.1364T>C (p.Phe455Ser)
c.248T>C
c.1280T>C (p.Phe427Ser)
c.1123T>C (p.Phe375Leu)
c.1142T>C (p.Phe381Ser)
17g.28399672A>TCA398340884SARM1,SLC46A1c.*3386A>T (n.*3386A>T)
c.1364T>A (p.Phe455Tyr)
c.248T>A
c.1280T>A (p.Phe427Tyr)
c.1123T>A (p.Phe375Ile)
c.1142T>A (p.Phe381Tyr)
 gnomAD v4
17g.28399673A>CCA398340892SARM1,SLC46A1c.*3387A>C (n.*3387A>C)
c.1363T>G (p.Phe455Val)
c.247T>G
c.1279T>G (p.Phe427Val)
c.1122T>G (p.Ser374Arg)
c.1141T>G (p.Phe381Val)
17g.28399673A>GCA398340897SARM1,SLC46A1c.*3387A>G (n.*3387A>G)
c.1363T>C (p.Phe455Leu)
c.247T>C
c.1279T>C (p.Phe427Leu)
c.1122T>C (p.Ser374=)
c.1141T>C (p.Phe381Leu)
17g.28399673A>TCA398340908SARM1,SLC46A1c.*3387A>T (n.*3387A>T)
c.1363T>A (p.Phe455Ile)
c.247T>A
c.1279T>A (p.Phe427Ile)
c.1122T>A (p.Ser374Arg)
c.1141T>A (p.Phe381Ile)
17g.28399674C>ACA398340910SARM1,SLC46A1c.*3388C>A (n.*3388C>A)
c.1362G>T (p.Gln454His)
c.246G>T
c.1278G>T (p.Gln426His)
c.1121G>T (p.Ser374Ile)
c.1140G>T (p.Gln380His)
 gnomAD v4
17g.28399674C=CA2254286651SARM1,SLC46A1c.*3388C= (n.*3388C=)
c.1362G= (p.Gln454=)
c.246G=
c.1278G= (p.Gln426=)
c.1121G= (p.Ser374=)
c.1140G= (p.Gln380=)
17g.28399674C>GCA398340913SARM1,SLC46A1c.*3388C>G (n.*3388C>G)
c.1362G>C (p.Gln454His)
c.246G>C
c.1278G>C (p.Gln426His)
c.1121G>C (p.Ser374Thr)
c.1140G>C (p.Gln380His)
 dbSNP
17g.28399674C>TCA499092411SARM1,SLC46A1c.*3388C>T (n.*3388C>T)
c.1362G>A (p.Gln454=)
c.246G>A
c.1278G>A (p.Gln426=)
c.1121G>A (p.Ser374Asn)
c.1140G>A (p.Gln380=)
17g.28399675T>ACA398340917SARM1,SLC46A1c.*3389T>A (n.*3389T>A)
c.1361A>T (p.Gln454Leu)
c.245A>T
c.1277A>T (p.Gln426Leu)
c.1120A>T (p.Ser374Cys)
c.1139A>T (p.Gln380Leu)
17g.28399675T>CCA398340920SARM1,SLC46A1c.*3389T>C (n.*3389T>C)
c.1361A>G (p.Gln454Arg)
c.245A>G
c.1277A>G (p.Gln426Arg)
c.1120A>G (p.Ser374Gly)
c.1139A>G (p.Gln380Arg)
17g.28399675T>GCA398340921SARM1,SLC46A1c.*3389T>G (n.*3389T>G)
c.1361A>C (p.Gln454Pro)
c.245A>C
c.1277A>C (p.Gln426Pro)
c.1120A>C (p.Ser374Arg)
c.1139A>C (p.Gln380Pro)
17g.28399676G>ACA398340922SARM1,SLC46A1c.*3390G>A (n.*3390G>A)
c.1360C>T (p.Gln454Ter)
c.244C>T
c.1276C>T (p.Gln426Ter)
c.1119C>T (p.Ser373=)
c.1138C>T (p.Gln380Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.28399676G>CCA398340926SARM1,SLC46A1c.*3390G>C (n.*3390G>C)
c.1360C>G (p.Gln454Glu)
c.244C>G
c.1276C>G (p.Gln426Glu)
c.1119C>G (p.Ser373Arg)
c.1138C>G (p.Gln380Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28399676G=CA2254286652SARM1,SLC46A1c.*3390G= (n.*3390G=)
c.1360C= (p.Gln454=)
c.244C=
c.1276C= (p.Gln426=)
c.1119C= (p.Ser373=)
c.1138C= (p.Gln380=)
17g.28399676G>TCA398340929SARM1,SLC46A1c.*3390G>T (n.*3390G>T)
c.1360C>A (p.Gln454Lys)
c.244C>A
c.1276C>A (p.Gln426Lys)
c.1119C>A (p.Ser373Arg)
c.1138C>A (p.Gln380Lys)
17g.28399677C>ACA398340936SARM1,SLC46A1c.*3391C>A (n.*3391C>A)
c.1359G>T (p.Gln453His)
c.243G>T
c.1275G>T (p.Gln425His)
c.1118G>T (p.Ser373Ile)
c.1137G>T (p.Gln379His)
17g.28399677C=CA2254286653SARM1,SLC46A1c.*3391C= (n.*3391C=)
c.1359G= (p.Gln453=)
c.243G=
c.1275G= (p.Gln425=)
c.1118G= (p.Ser373=)
c.1137G= (p.Gln379=)
17g.28399677C>GCA398340938SARM1,SLC46A1c.*3391C>G (n.*3391C>G)
c.1359G>C (p.Gln453His)
c.243G>C
c.1275G>C (p.Gln425His)
c.1118G>C (p.Ser373Thr)
c.1137G>C (p.Gln379His)
17g.28399677C>TCA499092413SARM1,SLC46A1c.*3391C>T (n.*3391C>T)
c.1359G>A (p.Gln453=)
c.243G>A
c.1275G>A (p.Gln425=)
c.1118G>A (p.Ser373Asn)
c.1137G>A (p.Gln379=)
 dbSNP gnomAD v2
17g.28399678T>ACA398340943SARM1,SLC46A1c.*3392T>A (n.*3392T>A)
c.1358A>T (p.Gln453Leu)
c.242A>T
c.1274A>T (p.Gln425Leu)
c.1117A>T (p.Ser373Cys)
c.1136A>T (p.Gln379Leu)
17g.28399678T>CCA398340950SARM1,SLC46A1c.*3392T>C (n.*3392T>C)
c.1358A>G (p.Gln453Arg)
c.242A>G
c.1274A>G (p.Gln425Arg)
c.1117A>G (p.Ser373Gly)
c.1136A>G (p.Gln379Arg)
17g.28399678T>GCA398340949SARM1,SLC46A1c.*3392T>G (n.*3392T>G)
c.1358A>C (p.Gln453Pro)
c.242A>C
c.1274A>C (p.Gln425Pro)
c.1117A>C (p.Ser373Arg)
c.1136A>C (p.Gln379Pro)
 gnomAD v4
17g.28399679G>ACA398340955SARM1,SLC46A1c.*3393G>A (n.*3393G>A)
c.1357C>T (p.Gln453Ter)
c.241C>T
c.1273C>T (p.Gln425Ter)
c.1116C>T (p.Ser372=)
c.1135C>T (p.Gln379Ter)
 dbSNP gnomAD v4
17g.28399679G>CCA398340961SARM1,SLC46A1c.*3393G>C (n.*3393G>C)
c.1357C>G (p.Gln453Glu)
c.241C>G
c.1273C>G (p.Gln425Glu)
c.1116C>G (p.Ser372=)
c.1135C>G (p.Gln379Glu)
17g.28399679G=CA2254286654SARM1,SLC46A1c.*3393G= (n.*3393G=)
c.1357C= (p.Gln453=)
c.241C=
c.1273C= (p.Gln425=)
c.1116C= (p.Ser372=)
c.1135C= (p.Gln379=)
17g.28399679G>TCA398340963SARM1,SLC46A1c.*3393G>T (n.*3393G>T)
c.1357C>A (p.Gln453Lys)
c.241C>A
c.1273C>A (p.Gln425Lys)
c.1116C>A (p.Ser372=)
c.1135C>A (p.Gln379Lys)
17g.28399680G>ACA499092415SARM1,SLC46A1c.*3394G>A (n.*3394G>A)
c.1356C>T (p.Phe452=)
c.240C>T
c.1272C>T (p.Phe424=)
c.1115C>T (p.Ser372Phe)
c.1134C>T (p.Phe378=)
17g.28399680G>CCA398340966SARM1,SLC46A1c.*3394G>C (n.*3394G>C)
c.1356C>G (p.Phe452Leu)
c.240C>G
c.1272C>G (p.Phe424Leu)
c.1115C>G (p.Ser372Cys)
c.1134C>G (p.Phe378Leu)
17g.28399680G>TCA398340969SARM1,SLC46A1c.*3394G>T (n.*3394G>T)
c.1356C>A (p.Phe452Leu)
c.240C>A
c.1272C>A (p.Phe424Leu)
c.1115C>A (p.Ser372Tyr)
c.1134C>A (p.Phe378Leu)
17g.28399681A>CCA398340974SARM1,SLC46A1c.*3395A>C (n.*3395A>C)
c.1355T>G (p.Phe452Cys)
c.239T>G
c.1271T>G (p.Phe424Cys)
c.1114T>G (p.Ser372Ala)
c.1133T>G (p.Phe378Cys)
17g.28399681A>GCA398340977SARM1,SLC46A1c.*3395A>G (n.*3395A>G)
c.1355T>C (p.Phe452Ser)
c.239T>C
c.1271T>C (p.Phe424Ser)
c.1114T>C (p.Ser372Pro)
c.1133T>C (p.Phe378Ser)
17g.28399681A>TCA398340980SARM1,SLC46A1c.*3395A>T (n.*3395A>T)
c.1355T>A (p.Phe452Tyr)
c.239T>A
c.1271T>A (p.Phe424Tyr)
c.1114T>A (p.Ser372Thr)
c.1133T>A (p.Phe378Tyr)
17g.28399682A>CCA398340989SARM1,SLC46A1c.*3396A>C (n.*3396A>C)
c.1354T>G (p.Phe452Val)
c.238T>G
c.1270T>G (p.Phe424Val)
c.1113T>G (p.Ser371Arg)
c.1132T>G (p.Phe378Val)
17g.28399682A>GCA398340997SARM1,SLC46A1c.*3396A>G (n.*3396A>G)
c.1354T>C (p.Phe452Leu)
c.238T>C
c.1270T>C (p.Phe424Leu)
c.1113T>C (p.Ser371=)
c.1132T>C (p.Phe378Leu)
17g.28399682A>TCA398341000SARM1,SLC46A1c.*3396A>T (n.*3396A>T)
c.1354T>A (p.Phe452Ile)
c.238T>A
c.1270T>A (p.Phe424Ile)
c.1113T>A (p.Ser371Arg)
c.1132T>A (p.Phe378Ile)
17g.28399683C>ACA398341004SARM1,SLC46A1c.*3397C>A (n.*3397C>A)
c.1353G>T (p.Glu451Asp)
c.237G>T
c.1269G>T (p.Glu423Asp)
c.1112G>T (p.Ser371Ile)
c.1131G>T (p.Glu377Asp)
17g.28399683C>GCA398341002SARM1,SLC46A1c.*3397C>G (n.*3397C>G)
c.1353G>C (p.Glu451Asp)
c.237G>C
c.1269G>C (p.Glu423Asp)
c.1112G>C (p.Ser371Thr)
c.1131G>C (p.Glu377Asp)
17g.28399683C>TCA499092418SARM1,SLC46A1c.*3397C>T (n.*3397C>T)
c.1353G>A (p.Glu451=)
c.237G>A
c.1269G>A (p.Glu423=)
c.1112G>A (p.Ser371Asn)
c.1131G>A (p.Glu377=)
17g.28399684T>ACA398341009SARM1,SLC46A1c.*3398T>A (n.*3398T>A)
c.1352A>T (p.Glu451Val)
c.236A>T
c.1268A>T (p.Glu423Val)
c.1111A>T (p.Ser371Cys)
c.1130A>T (p.Glu377Val)
17g.28399684T>CCA398341023SARM1,SLC46A1c.*3398T>C (n.*3398T>C)
c.1352A>G (p.Glu451Gly)
c.236A>G
c.1268A>G (p.Glu423Gly)
c.1111A>G (p.Ser371Gly)
c.1130A>G (p.Glu377Gly)
17g.28399684T>GCA398341026SARM1,SLC46A1c.*3398T>G (n.*3398T>G)
c.1352A>C (p.Glu451Ala)
c.236A>C
c.1268A>C (p.Glu423Ala)
c.1111A>C (p.Ser371Arg)
c.1130A>C (p.Glu377Ala)
17g.28399685C>ACA398341029SARM1,SLC46A1c.*3399C>A (n.*3399C>A)
c.1351G>T (p.Glu451Ter)
c.235G>T
c.1267G>T (p.Glu423Ter)
c.1110G>T (p.Ser370=)
c.1129G>T (p.Glu377Ter)
17g.28399685C=CA2254286655SARM1,SLC46A1c.*3399C= (n.*3399C=)
c.1351G= (p.Glu451=)
c.235G=
c.1267G= (p.Glu423=)
c.1110G= (p.Ser370=)
c.1129G= (p.Glu377=)
17g.28399685C>GCA398341032SARM1,SLC46A1c.*3399C>G (n.*3399C>G)
c.1351G>C (p.Glu451Gln)
c.235G>C
c.1267G>C (p.Glu423Gln)
c.1110G>C (p.Ser370=)
c.1129G>C (p.Glu377Gln)
17g.28399685C>TCA398341036SARM1,SLC46A1c.*3399C>T (n.*3399C>T)
c.1351G>A (p.Glu451Lys)
c.235G>A
c.1267G>A (p.Glu423Lys)
c.1110G>A (p.Ser370=)
c.1129G>A (p.Glu377Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.28399686G>ACA8458139SARM1,SLC46A1c.*3400G>A (n.*3400G>A)
c.1350C>T (p.Leu450=)
c.234C>T
c.1266C>T (p.Leu422=)
c.1109C>T (p.Ser370Leu)
c.1128C>T (p.Leu376=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28399686G>CCA499092421SARM1,SLC46A1c.*3400G>C (n.*3400G>C)
c.1350C>G (p.Leu450=)
c.234C>G
c.1266C>G (p.Leu422=)
c.1109C>G (p.Ser370Trp)
c.1128C>G (p.Leu376=)
17g.28399686G=CA2254286656SARM1,SLC46A1c.*3400G= (n.*3400G=)
c.1350C= (p.Leu450=)
c.234C=
c.1266C= (p.Leu422=)
c.1109C= (p.Ser370=)
c.1128C= (p.Leu376=)
17g.28399686G>TCA499092422SARM1,SLC46A1c.*3400G>T (n.*3400G>T)
c.1350C>A (p.Leu450=)
c.234C>A
c.1266C>A (p.Leu422=)
c.1109C>A (p.Ser370Ter)
c.1128C>A (p.Leu376=)
17g.28399687A>CCA398341050SARM1,SLC46A1c.*3401A>C (n.*3401A>C)
c.1349T>G (p.Leu450Arg)
c.233T>G
c.1265T>G (p.Leu422Arg)
c.1108T>G (p.Ser370Ala)
c.1127T>G (p.Leu376Arg)
17g.28399687A>GCA398341052SARM1,SLC46A1c.*3401A>G (n.*3401A>G)
c.1349T>C (p.Leu450Pro)
c.233T>C
c.1265T>C (p.Leu422Pro)
c.1108T>C (p.Ser370Pro)
c.1127T>C (p.Leu376Pro)
 dbSNP
17g.28399687A>TCA398341055SARM1,SLC46A1c.*3401A>T (n.*3401A>T)
c.1349T>A (p.Leu450His)
c.233T>A
c.1265T>A (p.Leu422His)
c.1108T>A (p.Ser370Thr)
c.1127T>A (p.Leu376His)
17g.28399688G>ACA8458140SARM1,SLC46A1c.*3402G>A (n.*3402G>A)
c.1348C>T (p.Leu450Phe)
c.232C>T
c.1264C>T (p.Leu422Phe)
c.1107C>T (p.Thr369=)
c.1126C>T (p.Leu376Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399688G>CCA398341060SARM1,SLC46A1c.*3402G>C (n.*3402G>C)
c.1348C>G (p.Leu450Val)
c.232C>G
c.1264C>G (p.Leu422Val)
c.1107C>G (p.Thr369=)
c.1126C>G (p.Leu376Val)
17g.28399688G=CA2254286657SARM1,SLC46A1c.*3402G= (n.*3402G=)
c.1348C= (p.Leu450=)
c.232C=
c.1264C= (p.Leu422=)
c.1107C= (p.Thr369=)
c.1126C= (p.Leu376=)
17g.28399688G>TCA398341062SARM1,SLC46A1c.*3402G>T (n.*3402G>T)
c.1348C>A (p.Leu450Ile)
c.232C>A
c.1264C>A (p.Leu422Ile)
c.1107C>A (p.Thr369=)
c.1126C>A (p.Leu376Ile)
17g.28399689G>ACA8458141SARM1,SLC46A1c.*3403G>A (n.*3403G>A)
c.1347C>T (p.His449=)
c.231C>T
c.1263C>T (p.His421=)
c.1106C>T (p.Thr369Ile)
c.1125C>T (p.His375=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.28399689G>CCA398341072SARM1,SLC46A1c.*3403G>C (n.*3403G>C)
c.1347C>G (p.His449Gln)
c.231C>G
c.1263C>G (p.His421Gln)
c.1106C>G (p.Thr369Ser)
c.1125C>G (p.His375Gln)
17g.28399689G=CA2254286658SARM1,SLC46A1c.*3403G= (n.*3403G=)
c.1347C= (p.His449=)
c.231C=
c.1263C= (p.His421=)
c.1106C= (p.Thr369=)
c.1125C= (p.His375=)
17g.28399689G>TCA398341068SARM1,SLC46A1c.*3403G>T (n.*3403G>T)
c.1347C>A (p.His449Gln)
c.231C>A
c.1263C>A (p.His421Gln)
c.1106C>A (p.Thr369Asn)
c.1125C>A (p.His375Gln)
17g.28399690T>ACA398341073SARM1,SLC46A1c.*3404T>A (n.*3404T>A)
c.1346A>T (p.His449Leu)
c.230A>T
c.1262A>T (p.His421Leu)
c.1105A>T (p.Thr369Ser)
c.1124A>T (p.His375Leu)
17g.28399690T>CCA398341074SARM1,SLC46A1c.*3404T>C (n.*3404T>C)
c.1346A>G (p.His449Arg)
c.230A>G
c.1262A>G (p.His421Arg)
c.1105A>G (p.Thr369Ala)
c.1124A>G (p.His375Arg)
17g.28399690T>GCA398341075SARM1,SLC46A1c.*3404T>G (n.*3404T>G)
c.1346A>C (p.His449Pro)
c.230A>C
c.1262A>C (p.His421Pro)
c.1105A>C (p.Thr369Pro)
c.1124A>C (p.His375Pro)
17g.28399691G>ACA8458142SARM1,SLC46A1c.*3405G>A (n.*3405G>A)
c.1345C>T (p.His449Tyr)
c.229C>T
c.1261C>T (p.His421Tyr)
c.1104C>T (p.Leu368=)
c.1123C>T (p.His375Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399691G>CCA398341080SARM1,SLC46A1c.*3405G>C (n.*3405G>C)
c.1345C>G (p.His449Asp)
c.229C>G
c.1261C>G (p.His421Asp)
c.1104C>G (p.Leu368=)
c.1123C>G (p.His375Asp)
 ClinVar
17g.28399691G=CA2254286659SARM1,SLC46A1c.*3405G= (n.*3405G=)
c.1345C= (p.His449=)
c.229C=
c.1261C= (p.His421=)
c.1104C= (p.Leu368=)
c.1123C= (p.His375=)
17g.28399691G>TCA398341084SARM1,SLC46A1c.*3405G>T (n.*3405G>T)
c.1345C>A (p.His449Asn)
c.229C>A
c.1261C>A (p.His421Asn)
c.1104C>A (p.Leu368=)
c.1123C>A (p.His375Asn)
17g.28399692A>CCA499092427SARM1,SLC46A1c.*3406A>C (n.*3406A>C)
c.1344T>G (p.Pro448=)
c.228T>G
c.1260T>G (p.Pro420=)
c.1103T>G (p.Leu368Arg)
c.1122T>G (p.Pro374=)
17g.28399692A>GCA499092428SARM1,SLC46A1c.*3406A>G (n.*3406A>G)
c.1344T>C (p.Pro448=)
c.228T>C
c.1260T>C (p.Pro420=)
c.1103T>C (p.Leu368Pro)
c.1122T>C (p.Pro374=)
17g.28399692A>TCA499092429SARM1,SLC46A1c.*3406A>T (n.*3406A>T)
c.1344T>A (p.Pro448=)
c.228T>A
c.1260T>A (p.Pro420=)
c.1103T>A (p.Leu368His)
c.1122T>A (p.Pro374=)
17g.28399692_28399693delinsAGCA2254286660SARM1,SLC46A1c.*3406_*3407delinsAG (n.*3406_*3407delinsAG)
c.1343_1344delinsCT (p.Pro448=)
c.227_228delinsCT
c.1259_1260delinsCT (p.Pro420=)
c.1102_1103delinsCT (p.Leu368=)
c.1121_1122delinsCT (p.Pro374=)
17g.28399693G>ACA398341088SARM1,SLC46A1c.*3407G>A (n.*3407G>A)
c.1343C>T (p.Pro448Leu)
c.227C>T
c.1259C>T (p.Pro420Leu)
c.1102C>T (p.Leu368Phe)
c.1121C>T (p.Pro374Leu)
17g.28399693G>CCA398341092SARM1,SLC46A1c.*3407G>C (n.*3407G>C)
c.1343C>G (p.Pro448Arg)
c.227C>G
c.1259C>G (p.Pro420Arg)
c.1102C>G (p.Leu368Val)
c.1121C>G (p.Pro374Arg)
17g.28399693G>TCA398341093SARM1,SLC46A1c.*3407G>T (n.*3407G>T)
c.1343C>A (p.Pro448His)
c.227C>A
c.1259C>A (p.Pro420His)
c.1102C>A (p.Leu368Ile)
c.1121C>A (p.Pro374His)
17g.28399694delCA2254286661SARM1,SLC46A1c.*3408del (n.*3408del)
c.1343del (p.Pro448LeufsTer?)
c.227del
c.1259del (p.Pro420LeufsTer?)
c.1102del (p.Leu368SerfsTer?)
c.1121del (p.Pro374LeufsTer?)
 dbSNP
17g.28399694G>ACA398341097SARM1,SLC46A1c.*3408G>A (n.*3408G>A)
c.1342C>T (p.Pro448Ser)
c.226C>T
c.1258C>T (p.Pro420Ser)
c.1101C>T (p.Ile367=)
c.1120C>T (p.Pro374Ser)
17g.28399694G>CCA398341107SARM1,SLC46A1c.*3408G>C (n.*3408G>C)
c.1342C>G (p.Pro448Ala)
c.226C>G
c.1258C>G (p.Pro420Ala)
c.1101C>G (p.Ile367Met)
c.1120C>G (p.Pro374Ala)
17g.28399694G>TCA398341109SARM1,SLC46A1c.*3408G>T (n.*3408G>T)
c.1342C>A (p.Pro448Thr)
c.226C>A
c.1258C>A (p.Pro420Thr)
c.1101C>A (p.Ile367=)
c.1120C>A (p.Pro374Thr)
17g.28399695A>CCA398341114SARM1,SLC46A1c.*3409A>C (n.*3409A>C)
c.1341T>G (p.Asp447Glu)
c.225T>G
c.1257T>G (p.Asp419Glu)
c.1100T>G (p.Ile367Ser)
c.1119T>G (p.Asp373Glu)
17g.28399695A>GCA499092433SARM1,SLC46A1c.*3409A>G (n.*3409A>G)
c.1341T>C (p.Asp447=)
c.225T>C
c.1257T>C (p.Asp419=)
c.1100T>C (p.Ile367Thr)
c.1119T>C (p.Asp373=)
17g.28399695A>TCA398341116SARM1,SLC46A1c.*3409A>T (n.*3409A>T)
c.1341T>A (p.Asp447Glu)
c.225T>A
c.1257T>A (p.Asp419Glu)
c.1100T>A (p.Ile367Asn)
c.1119T>A (p.Asp373Glu)
17g.28399696T>ACA398341121SARM1,SLC46A1c.*3410T>A (n.*3410T>A)
c.1340A>T (p.Asp447Val)
c.224A>T
c.1256A>T (p.Asp419Val)
c.1099A>T (p.Ile367Phe)
c.1118A>T (p.Asp373Val)
17g.28399696T>CCA398341126SARM1,SLC46A1c.*3410T>C (n.*3410T>C)
c.1340A>G (p.Asp447Gly)
c.224A>G
c.1256A>G (p.Asp419Gly)
c.1099A>G (p.Ile367Val)
c.1118A>G (p.Asp373Gly)
 gnomAD v4
17g.28399696T>GCA398341119SARM1,SLC46A1c.*3410T>G (n.*3410T>G)
c.1340A>C (p.Asp447Ala)
c.224A>C
c.1256A>C (p.Asp419Ala)
c.1099A>C (p.Ile367Leu)
c.1118A>C (p.Asp373Ala)
17g.28399697C>ACA398341133SARM1,SLC46A1c.*3411C>A (n.*3411C>A)
c.1339G>T (p.Asp447Tyr)
c.223G>T
c.1255G>T (p.Asp419Tyr)
c.1098G>T (p.Leu366=)
c.1117G>T (p.Asp373Tyr)
17g.28399697C>GCA398341134SARM1,SLC46A1c.*3411C>G (n.*3411C>G)
c.1339G>C (p.Asp447His)
c.223G>C
c.1255G>C (p.Asp419His)
c.1098G>C (p.Leu366=)
c.1117G>C (p.Asp373His)
17g.28399697C>TCA398341137SARM1,SLC46A1c.*3411C>T (n.*3411C>T)
c.1339G>A (p.Asp447Asn)
c.223G>A
c.1255G>A (p.Asp419Asn)
c.1098G>A (p.Leu366=)
c.1117G>A (p.Asp373Asn)
17g.28399698A>CCA499092434SARM1,SLC46A1c.*3412A>C (n.*3412A>C)
c.1338T>G (p.Ala446=)
c.222T>G
c.1254T>G (p.Ala418=)
c.1097T>G (p.Leu366Arg)
c.1116T>G (p.Ala372=)
17g.28399698A>GCA499092435SARM1,SLC46A1c.*3412A>G (n.*3412A>G)
c.1338T>C (p.Ala446=)
c.222T>C
c.1254T>C (p.Ala418=)
c.1097T>C (p.Leu366Pro)
c.1116T>C (p.Ala372=)
 gnomAD v4
17g.28399698A>TCA499092437SARM1,SLC46A1c.*3412A>T (n.*3412A>T)
c.1338T>A (p.Ala446=)
c.222T>A
c.1254T>A (p.Ala418=)
c.1097T>A (p.Leu366Gln)
c.1116T>A (p.Ala372=)
17g.28399699G>ACA398341140SARM1,SLC46A1c.*3413G>A (n.*3413G>A)
c.1337C>T (p.Ala446Val)
c.221C>T
c.1253C>T (p.Ala418Val)
c.1096C>T (p.Leu366=)
c.1115C>T (p.Ala372Val)
17g.28399699G>CCA398341142SARM1,SLC46A1c.*3413G>C (n.*3413G>C)
c.1337C>G (p.Ala446Gly)
c.221C>G
c.1253C>G (p.Ala418Gly)
c.1096C>G (p.Leu366Val)
c.1115C>G (p.Ala372Gly)
17g.28399699G>TCA398341149SARM1,SLC46A1c.*3413G>T (n.*3413G>T)
c.1337C>A (p.Ala446Asp)
c.221C>A
c.1253C>A (p.Ala418Asp)
c.1096C>A (p.Leu366Met)
c.1115C>A (p.Ala372Asp)
17g.28399700C>ACA398341168SARM1,SLC46A1c.*3414C>A (n.*3414C>A)
c.1336G>T (p.Ala446Ser)
c.220G>T
c.1252G>T (p.Ala418Ser)
c.1095G>T (p.Arg365Ser)
c.1114G>T (p.Ala372Ser)
17g.28399700C>GCA398341152SARM1,SLC46A1c.*3414C>G (n.*3414C>G)
c.1336G>C (p.Ala446Pro)
c.220G>C
c.1252G>C (p.Ala418Pro)
c.1095G>C (p.Arg365Ser)
c.1114G>C (p.Ala372Pro)
17g.28399700C>TCA398341155SARM1,SLC46A1c.*3414C>T (n.*3414C>T)
c.1336G>A (p.Ala446Thr)
c.220G>A
c.1252G>A (p.Ala418Thr)
c.1095G>A (p.Arg365=)
c.1114G>A (p.Ala372Thr)
 gnomAD v4
17g.28399701C>ACA398341172SARM1,SLC46A1c.*3415C>A (n.*3415C>A)
c.1335G>T (p.Lys445Asn)
c.219G>T
c.1251G>T (p.Lys417Asn)
c.1094G>T (p.Arg365Met)
c.1113G>T (p.Lys371Asn)
17g.28399701C=CA2254286662SARM1,SLC46A1c.*3415C= (n.*3415C=)
c.1335G= (p.Lys445=)
c.219G=
c.1251G= (p.Lys417=)
c.1094G= (p.Arg365=)
c.1113G= (p.Lys371=)
17g.28399701C>GCA398341189SARM1,SLC46A1c.*3415C>G (n.*3415C>G)
c.1335G>C (p.Lys445Asn)
c.219G>C
c.1251G>C (p.Lys417Asn)
c.1094G>C (p.Arg365Thr)
c.1113G>C (p.Lys371Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.28399701C>TCA499092439SARM1,SLC46A1c.*3415C>T (n.*3415C>T)
c.1335G>A (p.Lys445=)
c.219G>A
c.1251G>A (p.Lys417=)
c.1094G>A (p.Arg365Lys)
c.1113G>A (p.Lys371=)
 gnomAD v4
17g.28399701_28399702delinsCTCA2254286663SARM1,SLC46A1c.*3415_*3416delinsCT (n.*3415_*3416delinsCT)
c.1334_1335delinsAG (p.Lys445=)
c.218_219delinsAG
c.1250_1251delinsAG (p.Lys417=)
c.1093_1094delinsAG (p.Arg365=)
c.1112_1113delinsAG (p.Lys371=)
17g.28399702T>ACA398341202SARM1,SLC46A1c.*3416T>A (n.*3416T>A)
c.1334A>T (p.Lys445Met)
c.218A>T
c.1250A>T (p.Lys417Met)
c.1093A>T (p.Arg365Trp)
c.1112A>T (p.Lys371Met)
17g.28399702T>CCA398341208SARM1,SLC46A1c.*3416T>C (n.*3416T>C)
c.1334A>G (p.Lys445Arg)
c.218A>G
c.1250A>G (p.Lys417Arg)
c.1093A>G (p.Arg365Gly)
c.1112A>G (p.Lys371Arg)
17g.28399702T>GCA398341213SARM1,SLC46A1c.*3416T>G (n.*3416T>G)
c.1334A>C (p.Lys445Thr)
c.218A>C
c.1250A>C (p.Lys417Thr)
c.1093A>C (p.Arg365=)
c.1112A>C (p.Lys371Thr)
17g.28399705delCA625382579SARM1,SLC46A1c.*3419del (n.*3419del)
c.1334del (p.Lys445ArgfsTer?)
c.218del
c.1250del (p.Lys417ArgfsTer?)
c.1093del (p.Arg365GlyfsTer2)
c.1112del (p.Lys371ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28399703T>ACA398341220SARM1,SLC46A1c.*3417T>A (n.*3417T>A)
c.1333A>T (p.Lys445Ter)
c.217A>T
c.1249A>T (p.Lys417Ter)
c.1092A>T (p.Lys364Asn)
c.1111A>T (p.Lys371Ter)
17g.28399703T>CCA398341216SARM1,SLC46A1c.*3417T>C (n.*3417T>C)
c.1333A>G (p.Lys445Glu)
c.217A>G
c.1249A>G (p.Lys417Glu)
c.1092A>G (p.Lys364=)
c.1111A>G (p.Lys371Glu)
17g.28399703T>GCA398341217SARM1,SLC46A1c.*3417T>G (n.*3417T>G)
c.1333A>C (p.Lys445Gln)
c.217A>C
c.1249A>C (p.Lys417Gln)
c.1092A>C (p.Lys364Asn)
c.1111A>C (p.Lys371Gln)
 gnomAD v4
17g.28399704T>ACA398341223SARM1,SLC46A1c.*3418T>A (n.*3418T>A)
c.1332A>T (p.Glu444Asp)
c.216A>T
c.1248A>T (p.Glu416Asp)
c.1091A>T (p.Lys364Ile)
c.1110A>T (p.Glu370Asp)
17g.28399704T>CCA499092446SARM1,SLC46A1c.*3418T>C (n.*3418T>C)
c.1332A>G (p.Glu444=)
c.216A>G
c.1248A>G (p.Glu416=)
c.1091A>G (p.Lys364Arg)
c.1110A>G (p.Glu370=)
17g.28399704T>GCA398341227SARM1,SLC46A1c.*3418T>G (n.*3418T>G)
c.1332A>C (p.Glu444Asp)
c.216A>C
c.1248A>C (p.Glu416Asp)
c.1091A>C (p.Lys364Thr)
c.1110A>C (p.Glu370Asp)
17g.28399705T>ACA398341229SARM1,SLC46A1c.*3419T>A (n.*3419T>A)
c.1331A>T (p.Glu444Val)
c.215A>T
c.1247A>T (p.Glu416Val)
c.1090A>T (p.Lys364Ter)
c.1109A>T (p.Glu370Val)
17g.28399705T>CCA398341231SARM1,SLC46A1c.*3419T>C (n.*3419T>C)
c.1331A>G (p.Glu444Gly)
c.215A>G
c.1247A>G (p.Glu416Gly)
c.1090A>G (p.Lys364Glu)
c.1109A>G (p.Glu370Gly)
17g.28399705T>GCA398341233SARM1,SLC46A1c.*3419T>G (n.*3419T>G)
c.1331A>C (p.Glu444Ala)
c.215A>C
c.1247A>C (p.Glu416Ala)
c.1090A>C (p.Lys364Gln)
c.1109A>C (p.Glu370Ala)
17g.28399706C>ACA398341234SARM1,SLC46A1c.*3420C>A (n.*3420C>A)
c.1330G>T (p.Glu444Ter)
c.214G>T
c.1246G>T (p.Glu416Ter)
c.1089G>T (p.Trp363Cys)
c.1108G>T (p.Glu370Ter)
17g.28399706C>GCA398341235SARM1,SLC46A1c.*3420C>G (n.*3420C>G)
c.1330G>C (p.Glu444Gln)
c.214G>C
c.1246G>C (p.Glu416Gln)
c.1089G>C (p.Trp363Cys)
c.1108G>C (p.Glu370Gln)
17g.28399706C>TCA398341237SARM1,SLC46A1c.*3420C>T (n.*3420C>T)
c.1330G>A (p.Glu444Lys)
c.214G>A
c.1246G>A (p.Glu416Lys)
c.1089G>A (p.Trp363Ter)
c.1108G>A (p.Glu370Lys)
17g.28399707C>ACA499092449SARM1,SLC46A1c.*3421C>A (n.*3421C>A)
c.1329G>T (p.Leu443=)
c.213G>T
c.1245G>T (p.Leu415=)
c.1088G>T (p.Trp363Leu)
c.1107G>T (p.Leu369=)
17g.28399707C>GCA499092448SARM1,SLC46A1c.*3421C>G (n.*3421C>G)
c.1329G>C (p.Leu443=)
c.213G>C
c.1245G>C (p.Leu415=)
c.1088G>C (p.Trp363Ser)
c.1107G>C (p.Leu369=)
 COSMIC
17g.28399707C>TCA499092450SARM1,SLC46A1c.*3421C>T (n.*3421C>T)
c.1329G>A (p.Leu443=)
c.213G>A
c.1245G>A (p.Leu415=)
c.1088G>A (p.Trp363Ter)
c.1107G>A (p.Leu369=)
 ClinVar
17g.28399708A>CCA398341238SARM1,SLC46A1c.*3422A>C (n.*3422A>C)
c.1328T>G (p.Leu443Arg)
c.212T>G
c.1244T>G (p.Leu415Arg)
c.1087T>G (p.Trp363Gly)
c.1106T>G (p.Leu369Arg)
17g.28399708A>GCA398341240SARM1,SLC46A1c.*3422A>G (n.*3422A>G)
c.1328T>C (p.Leu443Pro)
c.212T>C
c.1244T>C (p.Leu415Pro)
c.1087T>C (p.Trp363Arg)
c.1106T>C (p.Leu369Pro)
17g.28399708A>TCA398341245SARM1,SLC46A1c.*3422A>T (n.*3422A>T)
c.1328T>A (p.Leu443Gln)
c.212T>A
c.1244T>A (p.Leu415Gln)
c.1087T>A (p.Trp363Arg)
c.1106T>A (p.Leu369Gln)
17g.28399709G>ACA499092453SARM1,SLC46A1c.*3423G>A (n.*3423G>A)
c.1327C>T (p.Leu443=)
c.211C>T
c.1243C>T (p.Leu415=)
c.1086C>T (p.Cys362=)
c.1105C>T (p.Leu369=)
17g.28399709G>CCA398341247SARM1,SLC46A1c.*3423G>C (n.*3423G>C)
c.1327C>G (p.Leu443Val)
c.211C>G
c.1243C>G (p.Leu415Val)
c.1086C>G (p.Cys362Trp)
c.1105C>G (p.Leu369Val)
17g.28399709G>TCA398341250SARM1,SLC46A1c.*3423G>T (n.*3423G>T)
c.1327C>A (p.Leu443Met)
c.211C>A
c.1243C>A (p.Leu415Met)
c.1086C>A (p.Cys362Ter)
c.1105C>A (p.Leu369Met)
17g.28399710C>ACA398341258SARM1,SLC46A1c.*3424C>A (n.*3424C>A)
c.1326G>T (p.Met442Ile)
c.210G>T
c.1242G>T (p.Met414Ile)
c.1085G>T (p.Cys362Phe)
c.1104G>T (p.Met368Ile)
17g.28399710C=CA2254286664SARM1,SLC46A1c.*3424C= (n.*3424C=)
c.1326G= (p.Met442=)
c.210G=
c.1242G= (p.Met414=)
c.1085G= (p.Cys362=)
c.1104G= (p.Met368=)
17g.28399710C>GCA398341264SARM1,SLC46A1c.*3424C>G (n.*3424C>G)
c.1326G>C (p.Met442Ile)
c.210G>C
c.1242G>C (p.Met414Ile)
c.1085G>C (p.Cys362Ser)
c.1104G>C (p.Met368Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28399710C>TCA398341260SARM1,SLC46A1c.*3424C>T (n.*3424C>T)
c.1326G>A (p.Met442Ile)
c.210G>A
c.1242G>A (p.Met414Ile)
c.1085G>A (p.Cys362Tyr)
c.1104G>A (p.Met368Ile)
17g.28399711A=CA2254286665SARM1,SLC46A1c.*3425A= (n.*3425A=)
c.1325T= (p.Met442=)
c.209T=
c.1241T= (p.Met414=)
c.1084T= (p.Cys362=)
c.1103T= (p.Met368=)
17g.28399711A>CCA8458143SARM1,SLC46A1c.*3425A>C (n.*3425A>C)
c.1325T>G (p.Met442Arg)
c.209T>G
c.1241T>G (p.Met414Arg)
c.1084T>G (p.Cys362Gly)
c.1103T>G (p.Met368Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28399711A>GCA398341271SARM1,SLC46A1c.*3425A>G (n.*3425A>G)
c.1325T>C (p.Met442Thr)
c.209T>C
c.1241T>C (p.Met414Thr)
c.1084T>C (p.Cys362Arg)
c.1103T>C (p.Met368Thr)
17g.28399711A>TCA398341272SARM1,SLC46A1c.*3425A>T (n.*3425A>T)
c.1325T>A (p.Met442Lys)
c.209T>A
c.1241T>A (p.Met414Lys)
c.1084T>A (p.Cys362Ser)
c.1103T>A (p.Met368Lys)
17g.28399712T>ACA398341277SARM1,SLC46A1c.*3426T>A (n.*3426T>A)
c.1324A>T (p.Met442Leu)
c.208A>T
c.1240A>T (p.Met414Leu)
c.1083A>T (p.Gly361=)
c.1102A>T (p.Met368Leu)
17g.28399712T>CCA398341281SARM1,SLC46A1c.*3426T>C (n.*3426T>C)
c.1324A>G (p.Met442Val)
c.208A>G
c.1240A>G (p.Met414Val)
c.1083A>G (p.Gly361=)
c.1102A>G (p.Met368Val)
17g.28399712T>GCA398341282SARM1,SLC46A1c.*3426T>G (n.*3426T>G)
c.1324A>C (p.Met442Leu)
c.208A>C
c.1240A>C (p.Met414Leu)
c.1083A>C (p.Gly361=)
c.1102A>C (p.Met368Leu)
17g.28399713C>ACA499092456SARM1,SLC46A1c.*3427C>A (n.*3427C>A)
c.1323G>T (p.Gly441=)
c.207G>T
c.1239G>T (p.Gly413=)
c.1082G>T (p.Gly361Val)
c.1101G>T (p.Gly367=)
17g.28399713C>GCA499092457SARM1,SLC46A1c.*3427C>G (n.*3427C>G)
c.1323G>C (p.Gly441=)
c.207G>C
c.1239G>C (p.Gly413=)
c.1082G>C (p.Gly361Ala)
c.1101G>C (p.Gly367=)
17g.28399713C>TCA499092458SARM1,SLC46A1c.*3427C>T (n.*3427C>T)
c.1323G>A (p.Gly441=)
c.207G>A
c.1239G>A (p.Gly413=)
c.1082G>A (p.Gly361Glu)
c.1101G>A (p.Gly367=)
 gnomAD v4
17g.28399714C>ACA398341285SARM1,SLC46A1c.*3428C>A (n.*3428C>A)
c.1323-1G>T (n.1323-1G>T)
c.207-1G>T
c.1239-1G>T (n.1239-1G>T)
c.1082-1G>T (n.1082-1G>T)
c.1101-1G>T (n.1101-1G>T)
17g.28399714C>GCA398341288SARM1,SLC46A1c.*3428C>G (n.*3428C>G)
c.1323-1G>C (n.1323-1G>C)
c.207-1G>C
c.1239-1G>C (n.1239-1G>C)
c.1082-1G>C (n.1082-1G>C)
c.1101-1G>C (n.1101-1G>C)
17g.28399714C>TCA398341289SARM1,SLC46A1c.*3428C>T (n.*3428C>T)
c.1323-1G>A (n.1323-1G>A)
c.207-1G>A
c.1239-1G>A (n.1239-1G>A)
c.1082-1G>A (n.1082-1G>A)
c.1101-1G>A (n.1101-1G>A)
17g.28399715delCA2636827307SARM1,SLC46A1c.*3429del (n.*3429del)
c.1323-2del (n.1323-2del)
c.207-2del
c.1239-2del (n.1239-2del)
c.1082-2del (n.1082-2del)
c.1101-2del (n.1101-2del)
 gnomAD v4
17g.28399715T>ACA398341292SARM1,SLC46A1c.*3429T>A (n.*3429T>A)
c.1323-2A>T (n.1323-2A>T)
c.207-2A>T
c.1239-2A>T (n.1239-2A>T)
c.1082-2A>T (n.1082-2A>T)
c.1101-2A>T (n.1101-2A>T)
17g.28399715T>CCA398341295SARM1,SLC46A1c.*3429T>C (n.*3429T>C)
c.1323-2A>G (n.1323-2A>G)
c.207-2A>G
c.1239-2A>G (n.1239-2A>G)
c.1082-2A>G (n.1082-2A>G)
c.1101-2A>G (n.1101-2A>G)
17g.28399715T>GCA398341300SARM1,SLC46A1c.*3429T>G (n.*3429T>G)
c.1323-2A>C (n.1323-2A>C)
c.207-2A>C
c.1239-2A>C (n.1239-2A>C)
c.1082-2A>C (n.1082-2A>C)
c.1101-2A>C (n.1101-2A>C)
17g.28399716G>ACA8458145SARM1,SLC46A1c.*3430G>A (n.*3430G>A)
c.1323-3C>T (n.1323-3C>T)
c.207-3C>T
c.1239-3C>T (n.1239-3C>T)
c.1082-3C>T (n.1082-3C>T)
c.1101-3C>T (n.1101-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28399716G>CCA2592269976SARM1,SLC46A1c.*3430G>C (n.*3430G>C)
c.1323-3C>G (n.1323-3C>G)
c.207-3C>G
c.1239-3C>G (n.1239-3C>G)
c.1082-3C>G (n.1082-3C>G)
c.1101-3C>G (n.1101-3C>G)
 gnomAD v3 gnomAD v4
17g.28399716G=CA2254286666SARM1,SLC46A1c.*3430G= (n.*3430G=)
c.1323-3C= (n.1323-3C=)
c.207-3C=
c.1239-3C= (n.1239-3C=)
c.1082-3C= (n.1082-3C=)
c.1101-3C= (n.1101-3C=)
17g.28399716G>TCA8458144SARM1,SLC46A1c.*3430G>T (n.*3430G>T)
c.1323-3C>A (n.1323-3C>A)
c.207-3C>A
c.1239-3C>A (n.1239-3C>A)
c.1082-3C>A (n.1082-3C>A)
c.1101-3C>A (n.1101-3C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399717T>GCA2636827316SARM1,SLC46A1c.*3431T>G (n.*3431T>G)
c.1323-4A>C (n.1323-4A>C)
c.207-4A>C
c.1239-4A>C (n.1239-4A>C)
c.1082-4A>C (n.1082-4A>C)
c.1101-4A>C (n.1101-4A>C)
 gnomAD v4
17g.28399719A>GCA2636827320SARM1,SLC46A1c.*3433A>G (n.*3433A>G)
c.1323-6T>C (n.1323-6T>C)
c.207-6T>C
c.1239-6T>C (n.1239-6T>C)
c.1082-6T>C (n.1082-6T>C)
c.1101-6T>C (n.1101-6T>C)
 gnomAD v4
17g.28399719_28399720insAACA2636827317SARM1,SLC46A1c.*3433_*3434insAA (n.*3433_*3434insAA)
c.1323-6_1323-5insTT (n.1323-6_1323-5insTT)
c.207-6_207-5insTT
c.1239-6_1239-5insTT (n.1239-6_1239-5insTT)
c.1082-6_1082-5insTT (n.1082-6_1082-5insTT)
c.1101-6_1101-5insTT (n.1101-6_1101-5insTT)
 gnomAD v4
17g.28399720G>ACA2254286668SARM1,SLC46A1c.*3434G>A (n.*3434G>A)
c.1323-7C>T (n.1323-7C>T)
c.207-7C>T
c.1239-7C>T (n.1239-7C>T)
c.1082-7C>T (n.1082-7C>T)
c.1101-7C>T (n.1101-7C>T)
 dbSNP
17g.28399720G=CA2254286667SARM1,SLC46A1c.*3434G= (n.*3434G=)
c.1323-7C= (n.1323-7C=)
c.207-7C=
c.1239-7C= (n.1239-7C=)
c.1082-7C= (n.1082-7C=)
c.1101-7C= (n.1101-7C=)
17g.28399721A=CA2254286669SARM1,SLC46A1c.*3435A= (n.*3435A=)
c.1323-8T= (n.1323-8T=)
c.207-8T=
c.1239-8T= (n.1239-8T=)
c.1082-8T= (n.1082-8T=)
c.1101-8T= (n.1101-8T=)
17g.28399721A>GCA625382580SARM1,SLC46A1c.*3435A>G (n.*3435A>G)
c.1323-8T>C (n.1323-8T>C)
c.207-8T>C
c.1239-8T>C (n.1239-8T>C)
c.1082-8T>C (n.1082-8T>C)
c.1101-8T>C (n.1101-8T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.28399722G>CCA2254286671SARM1,SLC46A1c.*3436G>C (n.*3436G>C)
c.1323-9C>G (n.1323-9C>G)
c.207-9C>G
c.1239-9C>G (n.1239-9C>G)
c.1082-9C>G (n.1082-9C>G)
c.1101-9C>G (n.1101-9C>G)
 dbSNP
17g.28399722G=CA2254286670SARM1,SLC46A1c.*3436G= (n.*3436G=)
c.1323-9C= (n.1323-9C=)
c.207-9C=
c.1239-9C= (n.1239-9C=)
c.1082-9C= (n.1082-9C=)
c.1101-9C= (n.1101-9C=)
17g.28399724C=CA2254286672SARM1,SLC46A1c.*3438C= (n.*3438C=)
c.1323-11G= (n.1323-11G=)
c.207-11G=
c.1239-11G= (n.1239-11G=)
c.1082-11G= (n.1082-11G=)
c.1101-11G= (n.1101-11G=)
17g.28399724C>TCA8458146SARM1,SLC46A1c.*3438C>T (n.*3438C>T)
c.1323-11G>A (n.1323-11G>A)
c.207-11G>A
c.1239-11G>A (n.1239-11G>A)
c.1082-11G>A (n.1082-11G>A)
c.1101-11G>A (n.1101-11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399725C>GCA2636827326SARM1,SLC46A1c.*3439C>G (n.*3439C>G)
c.1323-12G>C (n.1323-12G>C)
c.207-12G>C
c.1239-12G>C (n.1239-12G>C)
c.1082-12G>C (n.1082-12G>C)
c.1101-12G>C (n.1101-12G>C)
 gnomAD v4
17g.28399725_28399729delinsCAGAGCA2254286673SARM1,SLC46A1c.*3439_*3443delinsCAGAG (n.*3439_*3443delinsCAGAG)
c.1323-16_1323-12delinsCTCTG (n.1323-16_1323-12delinsCTCTG)
c.207-16_207-12delinsCTCTG
c.1239-16_1239-12delinsCTCTG (n.1239-16_1239-12delinsCTCTG)
c.1082-16_1082-12delinsCTCTG (n.1082-16_1082-12delinsCTCTG)
c.1101-16_1101-12delinsCTCTG (n.1101-16_1101-12delinsCTCTG)
17g.28399726delCA2636827331SARM1,SLC46A1c.*3440del (n.*3440del)
c.1323-13del (n.1323-13del)
c.207-13del
c.1239-13del (n.1239-13del)
c.1082-13del (n.1082-13del)
c.1101-13del (n.1101-13del)
 gnomAD v4
17g.28399726A=CA2254286674SARM1,SLC46A1c.*3440A= (n.*3440A=)
c.1323-13T= (n.1323-13T=)
c.207-13T=
c.1239-13T= (n.1239-13T=)
c.1082-13T= (n.1082-13T=)
c.1101-13T= (n.1101-13T=)
17g.28399726A>GCA8458147SARM1,SLC46A1c.*3440A>G (n.*3440A>G)
c.1323-13T>C (n.1323-13T>C)
c.207-13T>C
c.1239-13T>C (n.1239-13T>C)
c.1082-13T>C (n.1082-13T>C)
c.1101-13T>C (n.1101-13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28399734_28399735delCA982750981SARM1,SLC46A1c.*3448_*3449del (n.*3448_*3449del)
c.1323-14_1323-13del (n.1323-14_1323-13del)
c.207-14_207-13del
c.1239-14_1239-13del (n.1239-14_1239-13del)
c.1082-14_1082-13del (n.1082-14_1082-13del)
c.1101-14_1101-13del (n.1101-14_1101-13del)
 dbSNP gnomAD v3 gnomAD v4
17g.28399732_28399735delCA625382581SARM1,SLC46A1c.*3446_*3449del (n.*3446_*3449del)
c.1323-16_1323-13del (n.1323-16_1323-13del)
c.207-16_207-13del
c.1239-16_1239-13del (n.1239-16_1239-13del)
c.1082-16_1082-13del (n.1082-16_1082-13del)
c.1101-16_1101-13del (n.1101-16_1101-13del)
 dbSNP gnomAD v2 gnomAD v4
17g.28399727G>CCA2636827341SARM1,SLC46A1c.*3441G>C (n.*3441G>C)
c.1323-14C>G (n.1323-14C>G)
c.207-14C>G
c.1239-14C>G (n.1239-14C>G)
c.1082-14C>G (n.1082-14C>G)
c.1101-14C>G (n.1101-14C>G)
 gnomAD v4
17g.28399729G>TCA2636827342SARM1,SLC46A1c.*3443G>T (n.*3443G>T)
c.1323-16C>A (n.1323-16C>A)
c.207-16C>A
c.1239-16C>A (n.1239-16C>A)
c.1082-16C>A (n.1082-16C>A)
c.1101-16C>A (n.1101-16C>A)
 gnomAD v4
17g.28399730A=CA2254286675SARM1,SLC46A1c.*3444A= (n.*3444A=)
c.1323-17T= (n.1323-17T=)
c.207-17T=
c.1239-17T= (n.1239-17T=)
c.1082-17T= (n.1082-17T=)
c.1101-17T= (n.1101-17T=)
17g.28399730A>CCA2636827344SARM1,SLC46A1c.*3444A>C (n.*3444A>C)
c.1323-17T>G (n.1323-17T>G)
c.207-17T>G
c.1239-17T>G (n.1239-17T>G)
c.1082-17T>G (n.1082-17T>G)
c.1101-17T>G (n.1101-17T>G)
 gnomAD v4
17g.28399730A>GCA625382582SARM1,SLC46A1c.*3444A>G (n.*3444A>G)
c.1323-17T>C (n.1323-17T>C)
c.207-17T>C
c.1239-17T>C (n.1239-17T>C)
c.1082-17T>C (n.1082-17T>C)
c.1101-17T>C (n.1101-17T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.28399731G>ACA8458149SARM1,SLC46A1c.*3445G>A (n.*3445G>A)
c.1323-18C>T (n.1323-18C>T)
c.207-18C>T
c.1239-18C>T (n.1239-18C>T)
c.1082-18C>T (n.1082-18C>T)
c.1101-18C>T (n.1101-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28399731G>CCA8458148SARM1,SLC46A1c.*3445G>C (n.*3445G>C)
c.1323-18C>G (n.1323-18C>G)
c.207-18C>G
c.1239-18C>G (n.1239-18C>G)
c.1082-18C>G (n.1082-18C>G)
c.1101-18C>G (n.1101-18C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399731G=CA2254286676SARM1,SLC46A1c.*3445G= (n.*3445G=)
c.1323-18C= (n.1323-18C=)
c.207-18C=
c.1239-18C= (n.1239-18C=)
c.1082-18C= (n.1082-18C=)
c.1101-18C= (n.1101-18C=)
17g.28399732A=CA2254286677SARM1,SLC46A1c.*3446A= (n.*3446A=)
c.1323-19T= (n.1323-19T=)
c.207-19T=
c.1239-19T= (n.1239-19T=)
c.1082-19T= (n.1082-19T=)
c.1101-19T= (n.1101-19T=)
17g.28399732A>CCA727736197SARM1,SLC46A1c.*3446A>C (n.*3446A>C)
c.1323-19T>G (n.1323-19T>G)
c.207-19T>G
c.1239-19T>G (n.1239-19T>G)
c.1082-19T>G (n.1082-19T>G)
c.1101-19T>G (n.1101-19T>G)
 dbSNP
17g.28399733G>CCA8458150SARM1,SLC46A1c.*3447G>C (n.*3447G>C)
c.1323-20C>G (n.1323-20C>G)
c.207-20C>G
c.1239-20C>G (n.1239-20C>G)
c.1082-20C>G (n.1082-20C>G)
c.1101-20C>G (n.1101-20C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28399733G=CA2254286678SARM1,SLC46A1c.*3447G= (n.*3447G=)
c.1323-20C= (n.1323-20C=)
c.207-20C=
c.1239-20C= (n.1239-20C=)
c.1082-20C= (n.1082-20C=)
c.1101-20C= (n.1101-20C=)
17g.28399735G>ACA2254286680SARM1,SLC46A1c.*3449G>A (n.*3449G>A)
c.1323-22C>T (n.1323-22C>T)
c.207-22C>T
c.1239-22C>T (n.1239-22C>T)
c.1082-22C>T (n.1082-22C>T)
c.1101-22C>T (n.1101-22C>T)
 dbSNP
17g.28399735G=CA2254286679SARM1,SLC46A1c.*3449G= (n.*3449G=)
c.1323-22C= (n.1323-22C=)
c.207-22C=
c.1239-22C= (n.1239-22C=)
c.1082-22C= (n.1082-22C=)
c.1101-22C= (n.1101-22C=)
17g.28399736T>CCA2636827348SARM1,SLC46A1c.*3450T>C (n.*3450T>C)
c.1323-23A>G (n.1323-23A>G)
c.207-23A>G
c.1239-23A>G (n.1239-23A>G)
c.1082-23A>G (n.1082-23A>G)
c.1101-23A>G (n.1101-23A>G)
 gnomAD v4
17g.28399736T>GCA625382583SARM1,SLC46A1c.*3450T>G (n.*3450T>G)
c.1323-23A>C (n.1323-23A>C)
c.207-23A>C
c.1239-23A>C (n.1239-23A>C)
c.1082-23A>C (n.1082-23A>C)
c.1101-23A>C (n.1101-23A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28399736T=CA2254286681SARM1,SLC46A1c.*3450T= (n.*3450T=)
c.1323-23A= (n.1323-23A=)
c.207-23A=
c.1239-23A= (n.1239-23A=)
c.1082-23A= (n.1082-23A=)
c.1101-23A= (n.1101-23A=)
17g.28399737T>CCA8458151SARM1,SLC46A1c.*3451T>C (n.*3451T>C)
c.1323-24A>G (n.1323-24A>G)
c.207-24A>G
c.1239-24A>G (n.1239-24A>G)
c.1082-24A>G (n.1082-24A>G)
c.1101-24A>G (n.1101-24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28399737T=CA2254286682SARM1,SLC46A1c.*3451T= (n.*3451T=)
c.1323-24A= (n.1323-24A=)
c.207-24A=
c.1239-24A= (n.1239-24A=)
c.1082-24A= (n.1082-24A=)
c.1101-24A= (n.1101-24A=)
17g.28399739G>ACA982750985SARM1,SLC46A1c.*3453G>A (n.*3453G>A)
c.1323-26C>T (n.1323-26C>T)
c.207-26C>T
c.1239-26C>T (n.1239-26C>T)
c.1082-26C>T (n.1082-26C>T)
c.1101-26C>T (n.1101-26C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.28399739G=CA2254286683SARM1,SLC46A1c.*3453G= (n.*3453G=)
c.1323-26C= (n.1323-26C=)
c.207-26C=
c.1239-26C= (n.1239-26C=)
c.1082-26C= (n.1082-26C=)
c.1101-26C= (n.1101-26C=)
17g.28399743T>GCA727736213SARM1,SLC46A1c.*3457T>G (n.*3457T>G)
c.1323-30A>C (n.1323-30A>C)
c.207-30A>C
c.1239-30A>C (n.1239-30A>C)
c.1082-30A>C (n.1082-30A>C)
c.1101-30A>C (n.1101-30A>C)
 dbSNP
17g.28399743T=CA2254286684SARM1,SLC46A1c.*3457T= (n.*3457T=)
c.1323-30A= (n.1323-30A=)
c.207-30A=
c.1239-30A= (n.1239-30A=)
c.1082-30A= (n.1082-30A=)
c.1101-30A= (n.1101-30A=)

Number of alleles fetched