Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94041296G>ACA418826300ABCA4c.3435C>T (p.Leu1145=)
c.-64-1207C>T (n.-64-1207C>T)
1g.94041296G>CCA418826301ABCA4c.3435C>G (p.Leu1145=)
c.-64-1207C>G (n.-64-1207C>G)
 dbSNP gnomAD v4
1g.94041296G=CA1143639819ABCA4c.3435C= (p.Leu1145=)
c.-64-1207C= (n.-64-1207C=)
1g.94041296G>TCA26863640ABCA4c.3435C>A (p.Leu1145=)
c.-64-1207C>A (n.-64-1207C>A)
 dbSNP
1g.94041297A=CA1181420035ABCA4c.3434T= (p.Leu1145=)
c.-64-1208T= (n.-64-1208T=)
1g.94041297A>CCA341290837ABCA4c.3434T>G (p.Leu1145Arg)
c.-64-1208T>G (n.-64-1208T>G)
 ClinVar dbSNP gnomAD v4
1g.94041297A>GCA341290842ABCA4c.3434T>C (p.Leu1145Pro)
c.-64-1208T>C (n.-64-1208T>C)
 gnomAD v4
1g.94041297A>TCA341290844ABCA4c.3434T>A (p.Leu1145His)
c.-64-1208T>A (n.-64-1208T>A)
 gnomAD v4
1g.94041298G>ACA341290846ABCA4c.3433C>T (p.Leu1145Phe)
c.-64-1209C>T (n.-64-1209C>T)
1g.94041298G>CCA341290850ABCA4c.3433C>G (p.Leu1145Val)
c.-64-1209C>G (n.-64-1209C>G)
1g.94041298G>TCA341290851ABCA4c.3433C>A (p.Leu1145Ile)
c.-64-1209C>A (n.-64-1209C>A)
1g.94041299T>ACA418826302ABCA4c.3432A>T (p.Pro1144=)
c.-64-1210A>T (n.-64-1210A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94041299T>CCA418826303ABCA4c.3432A>G (p.Pro1144=)
c.-64-1210A>G (n.-64-1210A>G)
 ClinVar
1g.94041299T>GCA418826304ABCA4c.3432A>C (p.Pro1144=)
c.-64-1210A>C (n.-64-1210A>C)
1g.94041299T=CA1181420036ABCA4c.3432A= (p.Pro1144=)
c.-64-1210A= (n.-64-1210A=)
1g.94041300G>ACA341290853ABCA4c.3431C>T (p.Pro1144Leu)
c.-64-1211C>T (n.-64-1211C>T)
 dbSNP
1g.94041300G>CCA341290855ABCA4c.3431C>G (p.Pro1144Arg)
c.-64-1211C>G (n.-64-1211C>G)
1g.94041300G=CA1181420037ABCA4c.3431C= (p.Pro1144=)
c.-64-1211C= (n.-64-1211C=)
1g.94041300G>TCA341290865ABCA4c.3431C>A (p.Pro1144Gln)
c.-64-1211C>A (n.-64-1211C>A)
1g.94041301G>ACA26863646ABCA4c.3430C>T (p.Pro1144Ser)
c.-64-1212C>T (n.-64-1212C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94041301G>CCA341290867ABCA4c.3430C>G (p.Pro1144Ala)
c.-64-1212C>G (n.-64-1212C>G)
1g.94041301G=CA1181420038ABCA4c.3430C= (p.Pro1144=)
c.-64-1212C= (n.-64-1212C=)
1g.94041301G>TCA341290869ABCA4c.3430C>A (p.Pro1144Thr)
c.-64-1212C>A (n.-64-1212C>A)
1g.94041302G>ACA418826305ABCA4c.3429C>T (p.Thr1143=)
c.-64-1213C>T (n.-64-1213C>T)
 ClinVar
1g.94041302G>CCA418826306ABCA4c.3429C>G (p.Thr1143=)
c.-64-1213C>G (n.-64-1213C>G)
1g.94041302G>TCA418826307ABCA4c.3429C>A (p.Thr1143=)
c.-64-1213C>A (n.-64-1213C>A)
1g.94041303G>ACA26863651ABCA4c.3428C>T (p.Thr1143Ile)
c.-64-1214C>T (n.-64-1214C>T)
 dbSNP gnomAD v4
1g.94041303G>CCA341290879ABCA4c.3428C>G (p.Thr1143Ser)
c.-64-1214C>G (n.-64-1214C>G)
1g.94041303G=CA1181420039ABCA4c.3428C= (p.Thr1143=)
c.-64-1214C= (n.-64-1214C=)
1g.94041303G>TCA957940ABCA4c.3428C>A (p.Thr1143Asn)
c.-64-1214C>A (n.-64-1214C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041304T>ACA341290882ABCA4c.3427A>T (p.Thr1143Ser)
c.-64-1215A>T (n.-64-1215A>T)
1g.94041304T>CCA341290883ABCA4c.3427A>G (p.Thr1143Ala)
c.-64-1215A>G (n.-64-1215A>G)
 gnomAD v4
1g.94041304T>GCA341290887ABCA4c.3427A>C (p.Thr1143Pro)
c.-64-1215A>C (n.-64-1215A>C)
 dbSNP
1g.94041304T=CA1181420040ABCA4c.3427A= (p.Thr1143=)
c.-64-1215A= (n.-64-1215A=)
1g.94041304_94041305delinsTGCA1181420041ABCA4c.3426_3427delinsCA (p.Gly1142=)
c.-64-1216_-64-1215delinsCA (n.-64-1216_-64-1215delinsCA)
1g.94041305delCA1181420042ABCA4c.3426del (p.Thr1143ProfsTer5)
c.-64-1216del (n.-64-1216del)
 dbSNP
1g.94041305G>ACA957941ABCA4c.3426C>T (p.Gly1142=)
c.-64-1216C>T (n.-64-1216C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041305G>CCA418826308ABCA4c.3426C>G (p.Gly1142=)
c.-64-1216C>G (n.-64-1216C>G)
1g.94041305G=CA1181420043ABCA4c.3426C= (p.Gly1142=)
c.-64-1216C= (n.-64-1216C=)
1g.94041305G>TCA418826309ABCA4c.3426C>A (p.Gly1142=)
c.-64-1216C>A (n.-64-1216C>A)
1g.94041306C>ACA341290891ABCA4c.3425G>T (p.Gly1142Val)
c.-64-1217G>T (n.-64-1217G>T)
1g.94041306C>GCA341290894ABCA4c.3425G>C (p.Gly1142Ala)
c.-64-1217G>C (n.-64-1217G>C)
1g.94041306C>TCA341290899ABCA4c.3425G>A (p.Gly1142Asp)
c.-64-1217G>A (n.-64-1217G>A)
1g.94041307C>ACA341290901ABCA4c.3424G>T (p.Gly1142Cys)
c.-64-1218G>T (n.-64-1218G>T)
1g.94041307C>GCA341290902ABCA4c.3424G>C (p.Gly1142Arg)
c.-64-1218G>C (n.-64-1218G>C)
1g.94041307C>TCA341290903ABCA4c.3424G>A (p.Gly1142Ser)
c.-64-1218G>A (n.-64-1218G>A)
1g.94041308T>ACA418826310ABCA4c.3423A>T (p.Ser1141=)
c.-64-1219A>T (n.-64-1219A>T)
1g.94041308T>CCA418826311ABCA4c.3423A>G (p.Ser1141=)
c.-64-1219A>G (n.-64-1219A>G)
 gnomAD v4
1g.94041308T>GCA418826312ABCA4c.3423A>C (p.Ser1141=)
c.-64-1219A>C (n.-64-1219A>C)
1g.94041309G>ACA957942ABCA4c.3422C>T (p.Ser1141Leu)
c.-64-1220C>T (n.-64-1220C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041309G>CCA341290906ABCA4c.3422C>G (p.Ser1141Ter)
c.-64-1220C>G (n.-64-1220C>G)
1g.94041309G=CA1181420044ABCA4c.3422C= (p.Ser1141=)
c.-64-1220C= (n.-64-1220C=)
1g.94041309G>TCA341290905ABCA4c.3422C>A (p.Ser1141Ter)
c.-64-1220C>A (n.-64-1220C>A)
1g.94041313_94041320delCA2744617270ABCA4c.3415_3422del (p.Tyr1139ArgfsTer?)
c.-64-1227_-64-1220del (n.-64-1227_-64-1220del)
1g.94041310A>CCA341290909ABCA4c.3421T>G (p.Ser1141Ala)
c.-64-1221T>G (n.-64-1221T>G)
1g.94041310A>GCA341290910ABCA4c.3421T>C (p.Ser1141Pro)
c.-64-1221T>C (n.-64-1221T>C)
 gnomAD v4
1g.94041310A>TCA341290911ABCA4c.3421T>A (p.Ser1141Thr)
c.-64-1221T>A (n.-64-1221T>A)
1g.94041311G>ACA418826313ABCA4c.3420C>T (p.Cys1140=)
c.-64-1222C>T (n.-64-1222C>T)
1g.94041311G>CCA341290912ABCA4c.3420C>G (p.Cys1140Trp)
c.-64-1222C>G (n.-64-1222C>G)
 ClinVar dbSNP gnomAD v4
1g.94041311G>TCA341290913ABCA4c.3420C>A (p.Cys1140Ter)
c.-64-1222C>A (n.-64-1222C>A)
1g.94041312C>ACA341290915ABCA4c.3419G>T (p.Cys1140Phe)
c.-64-1223G>T (n.-64-1223G>T)
1g.94041312C>GCA341290917ABCA4c.3419G>C (p.Cys1140Ser)
c.-64-1223G>C (n.-64-1223G>C)
1g.94041312C>TCA341290919ABCA4c.3419G>A (p.Cys1140Tyr)
c.-64-1223G>A (n.-64-1223G>A)
1g.94041313A>CCA341290920ABCA4c.3418T>G (p.Cys1140Gly)
c.-64-1224T>G (n.-64-1224T>G)
 gnomAD v4
1g.94041313A>GCA341290923ABCA4c.3418T>C (p.Cys1140Arg)
c.-64-1224T>C (n.-64-1224T>C)
1g.94041313A>TCA341290926ABCA4c.3418T>A (p.Cys1140Ser)
c.-64-1224T>A (n.-64-1224T>A)
1g.94041314G>ACA418826314ABCA4c.3417C>T (p.Tyr1139=)
c.-64-1225C>T (n.-64-1225C>T)
 gnomAD v4
1g.94041314G>CCA341290928ABCA4c.3417C>G (p.Tyr1139Ter)
c.-64-1225C>G (n.-64-1225C>G)
1g.94041314G>TCA341290930ABCA4c.3417C>A (p.Tyr1139Ter)
c.-64-1225C>A (n.-64-1225C>A)
1g.94041315T>ACA341290934ABCA4c.3416A>T (p.Tyr1139Phe)
c.-64-1226A>T (n.-64-1226A>T)
1g.94041315T>CCA957943ABCA4c.3416A>G (p.Tyr1139Cys)
c.-64-1226A>G (n.-64-1226A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041315T>GCA341290933ABCA4c.3416A>C (p.Tyr1139Ser)
c.-64-1226A>C (n.-64-1226A>C)
1g.94041315T=CA1142393041ABCA4c.3416A= (p.Tyr1139=)
c.-64-1226A= (n.-64-1226A=)
1g.94041316A>CCA341290935ABCA4c.3415T>G (p.Tyr1139Asp)
c.-64-1227T>G (n.-64-1227T>G)
 ClinVar dbSNP
1g.94041316A>GCA341290936ABCA4c.3415T>C (p.Tyr1139His)
c.-64-1227T>C (n.-64-1227T>C)
 gnomAD v4
1g.94041316A>TCA341290938ABCA4c.3415T>A (p.Tyr1139Asn)
c.-64-1227T>A (n.-64-1227T>A)
1g.94041317G>ACA418826315ABCA4c.3414C>T (p.Leu1138=)
c.-64-1228C>T (n.-64-1228C>T)
1g.94041317G>CCA26863668ABCA4c.3414C>G (p.Leu1138=)
c.-64-1228C>G (n.-64-1228C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94041317G=CA1181420045ABCA4c.3414C= (p.Leu1138=)
c.-64-1228C= (n.-64-1228C=)
1g.94041317G>TCA418826316ABCA4c.3414C>A (p.Leu1138=)
c.-64-1228C>A (n.-64-1228C>A)
 gnomAD v4
1g.94041318A=CA1181420046ABCA4c.3413T= (p.Leu1138=)
c.-64-1229T= (n.-64-1229T=)
1g.94041318A>CCA341290941ABCA4c.3413T>G (p.Leu1138Arg)
c.-64-1229T>G (n.-64-1229T>G)
1g.94041318A>GCA341290944ABCA4c.3413T>C (p.Leu1138Pro)
c.-64-1229T>C (n.-64-1229T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94041318A>TCA341290946ABCA4c.3413T>A (p.Leu1138His)
c.-64-1229T>A (n.-64-1229T>A)
 ClinVar dbSNP gnomAD v4
1g.94041319G>ACA341290948ABCA4c.3412C>T (p.Leu1138Phe)
c.-64-1230C>T (n.-64-1230C>T)
 ClinVar gnomAD v4
1g.94041319G>CCA341290951ABCA4c.3412C>G (p.Leu1138Val)
c.-64-1230C>G (n.-64-1230C>G)
 gnomAD v4
1g.94041319G>TCA341290952ABCA4c.3412C>A (p.Leu1138Ile)
c.-64-1230C>A (n.-64-1230C>A)
1g.94041320C>ACA341290955ABCA4c.3411G>T (p.Arg1137Ser)
c.-64-1231G>T (n.-64-1231G>T)
1g.94041320C>GCA341290957ABCA4c.3411G>C (p.Arg1137Ser)
c.-64-1231G>C (n.-64-1231G>C)
1g.94041320C>TCA418826317ABCA4c.3411G>A (p.Arg1137=)
c.-64-1231G>A (n.-64-1231G>A)
 ClinVar gnomAD v4
1g.94041321C>ACA341290966ABCA4c.3410G>T (p.Arg1137Met)
c.-64-1232G>T (n.-64-1232G>T)
1g.94041321C=CA1181420047ABCA4c.3410G= (p.Arg1137=)
c.-64-1232G= (n.-64-1232G=)
1g.94041321C>GCA341290964ABCA4c.3410G>C (p.Arg1137Thr)
c.-64-1232G>C (n.-64-1232G>C)
1g.94041321C>TCA341290960ABCA4c.3410G>A (p.Arg1137Lys)
c.-64-1232G>A (n.-64-1232G>A)
 dbSNP
1g.94041322T>ACA341290968ABCA4c.3409A>T (p.Arg1137Trp)
c.-64-1233A>T (n.-64-1233A>T)
1g.94041322T>CCA26863669ABCA4c.3409A>G (p.Arg1137Gly)
c.-64-1233A>G (n.-64-1233A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94041322T>GCA418826318ABCA4c.3409A>C (p.Arg1137=)
c.-64-1233A>C (n.-64-1233A>C)
1g.94041322T=CA1181420048ABCA4c.3409A= (p.Arg1137=)
c.-64-1233A= (n.-64-1233A=)
1g.94041323T>ACA418826319ABCA4c.3408A>T (p.Gly1136=)
c.-64-1234A>T (n.-64-1234A>T)
1g.94041323T>CCA418826320ABCA4c.3408A>G (p.Gly1136=)
c.-64-1234A>G (n.-64-1234A>G)
1g.94041323T>GCA418826321ABCA4c.3408A>C (p.Gly1136=)
c.-64-1234A>C (n.-64-1234A>C)
1g.94041324C>ACA341290973ABCA4c.3407G>T (p.Gly1136Val)
c.-64-1235G>T (n.-64-1235G>T)
 ClinVar dbSNP
1g.94041324C=CA1181420049ABCA4c.3407G= (p.Gly1136=)
c.-64-1235G= (n.-64-1235G=)
1g.94041324C>GCA341290981ABCA4c.3407G>C (p.Gly1136Ala)
c.-64-1235G>C (n.-64-1235G>C)
1g.94041324C>TCA341290977ABCA4c.3407G>A (p.Gly1136Glu)
c.-64-1235G>A (n.-64-1235G>A)
 ClinVar dbSNP gnomAD v4
1g.94041325C>ACA341290984ABCA4c.3406G>T (p.Gly1136Ter)
c.-64-1236G>T (n.-64-1236G>T)
 COSMIC
1g.94041325C>GCA341290987ABCA4c.3406G>C (p.Gly1136Arg)
c.-64-1236G>C (n.-64-1236G>C)
1g.94041325C>TCA341290986ABCA4c.3406G>A (p.Gly1136Arg)
c.-64-1236G>A (n.-64-1236G>A)
 gnomAD v4 COSMIC
1g.94041326C>ACA341290988ABCA4c.3405G>T (p.Gln1135His)
c.-64-1237G>T (n.-64-1237G>T)
1g.94041326C>GCA341290989ABCA4c.3405G>C (p.Gln1135His)
c.-64-1237G>C (n.-64-1237G>C)
1g.94041326C>TCA418826322ABCA4c.3405G>A (p.Gln1135=)
c.-64-1237G>A (n.-64-1237G>A)
1g.94041327T>ACA341290990ABCA4c.3404A>T (p.Gln1135Leu)
c.-64-1238A>T (n.-64-1238A>T)
1g.94041327T>CCA341290992ABCA4c.3404A>G (p.Gln1135Arg)
c.-64-1238A>G (n.-64-1238A>G)
1g.94041327T>GCA341290993ABCA4c.3404A>C (p.Gln1135Pro)
c.-64-1238A>C (n.-64-1238A>C)
1g.94041328G>ACA16042404ABCA4c.3403C>T (p.Gln1135Ter)
c.-64-1239C>T (n.-64-1239C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94041328G>CCA341290998ABCA4c.3403C>G (p.Gln1135Glu)
c.-64-1239C>G (n.-64-1239C>G)
1g.94041328G=CA1181420050ABCA4c.3403C= (p.Gln1135=)
c.-64-1239C= (n.-64-1239C=)
1g.94041328G>TCA341290999ABCA4c.3403C>A (p.Gln1135Lys)
c.-64-1239C>A (n.-64-1239C>A)
1g.94041329G>ACA418826323ABCA4c.3402C>T (p.Ala1134=)
c.-64-1240C>T (n.-64-1240C>T)
1g.94041329G>CCA418826324ABCA4c.3402C>G (p.Ala1134=)
c.-64-1240C>G (n.-64-1240C>G)
1g.94041329G>TCA418826325ABCA4c.3402C>A (p.Ala1134=)
c.-64-1240C>A (n.-64-1240C>A)
1g.94041330G>ACA341291001ABCA4c.3401C>T (p.Ala1134Val)
c.-64-1241C>T (n.-64-1241C>T)
 gnomAD v4
1g.94041330G>CCA341291003ABCA4c.3401C>G (p.Ala1134Gly)
c.-64-1241C>G (n.-64-1241C>G)
1g.94041330G=CA1181420051ABCA4c.3401C= (p.Ala1134=)
c.-64-1241C= (n.-64-1241C=)
1g.94041330G>TCA957944ABCA4c.3401C>A (p.Ala1134Asp)
c.-64-1241C>A (n.-64-1241C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041331C>ACA341291007ABCA4c.3400G>T (p.Ala1134Ser)
c.-64-1242G>T (n.-64-1242G>T)
1g.94041331C>GCA341291008ABCA4c.3400G>C (p.Ala1134Pro)
c.-64-1242G>C (n.-64-1242G>C)
1g.94041331C>TCA341291010ABCA4c.3400G>A (p.Ala1134Thr)
c.-64-1242G>A (n.-64-1242G>A)
 gnomAD v4
1g.94041332A=CA1145364808ABCA4c.3399T= (p.Ile1133=)
c.-64-1243T= (n.-64-1243T=)
1g.94041332A>CCA341291013ABCA4c.3399T>G (p.Ile1133Met)
c.-64-1243T>G (n.-64-1243T>G)
1g.94041332A>GCA26863696ABCA4c.3399T>C (p.Ile1133=)
c.-64-1243T>C (n.-64-1243T>C)
 dbSNP
1g.94041332A>TCA418826326ABCA4c.3399T>A (p.Ile1133=)
c.-64-1243T>A (n.-64-1243T>A)
1g.94041333A=CA1181420052ABCA4c.3398T= (p.Ile1133=)
c.-64-1244T= (n.-64-1244T=)
1g.94041333A>CCA341291016ABCA4c.3398T>G (p.Ile1133Ser)
c.-64-1244T>G (n.-64-1244T>G)
1g.94041333A>GCA341291026ABCA4c.3398T>C (p.Ile1133Thr)
c.-64-1244T>C (n.-64-1244T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94041333A>TCA341291028ABCA4c.3398T>A (p.Ile1133Asn)
c.-64-1244T>A (n.-64-1244T>A)
1g.94041334T>ACA341291031ABCA4c.3397A>T (p.Ile1133Phe)
c.-64-1245A>T (n.-64-1245A>T)
1g.94041334T>CCA341291034ABCA4c.3397A>G (p.Ile1133Val)
c.-64-1245A>G (n.-64-1245A>G)
1g.94041334T>GCA341291036ABCA4c.3397A>C (p.Ile1133Leu)
c.-64-1245A>C (n.-64-1245A>C)
1g.94041335G>ACA418826327ABCA4c.3396C>T (p.Ile1132=)
c.-64-1246C>T (n.-64-1246C>T)
1g.94041335G>CCA341291037ABCA4c.3396C>G (p.Ile1132Met)
c.-64-1246C>G (n.-64-1246C>G)
1g.94041335G>TCA418826328ABCA4c.3396C>A (p.Ile1132=)
c.-64-1246C>A (n.-64-1246C>A)
1g.94041336A>CCA341291040ABCA4c.3395T>G (p.Ile1132Ser)
c.-64-1247T>G (n.-64-1247T>G)
1g.94041336A>GCA341291045ABCA4c.3395T>C (p.Ile1132Thr)
c.-64-1247T>C (n.-64-1247T>C)
 ClinVar
1g.94041336A>TCA341291047ABCA4c.3395T>A (p.Ile1132Asn)
c.-64-1247T>A (n.-64-1247T>A)
1g.94041337T>ACA341291052ABCA4c.3394A>T (p.Ile1132Phe)
c.-64-1248A>T (n.-64-1248A>T)
1g.94041337T>CCA341291054ABCA4c.3394A>G (p.Ile1132Val)
c.-64-1248A>G (n.-64-1248A>G)
1g.94041337T>GCA341291057ABCA4c.3394A>C (p.Ile1132Leu)
c.-64-1248A>C (n.-64-1248A>C)
1g.94041337_94041338delinsTGCA1181420053ABCA4c.3393_3394delinsCA (p.Ala1131=)
c.-64-1249_-64-1248delinsCA (n.-64-1249_-64-1248delinsCA)
1g.94041338G>ACA418826329ABCA4c.3393C>T (p.Ala1131=)
c.-64-1249C>T (n.-64-1249C>T)
1g.94041338G>CCA418826330ABCA4c.3393C>G (p.Ala1131=)
c.-64-1249C>G (n.-64-1249C>G)
1g.94041338G>TCA418826331ABCA4c.3393C>A (p.Ala1131=)
c.-64-1249C>A (n.-64-1249C>A)
1g.94041338_94041339delinsCCA645372188ABCA4c.3392_3393delinsG (p.Ala1131GlyfsTer17)
c.-64-1250_-64-1249delinsG (n.-64-1250_-64-1249delinsG)
 ClinVar
1g.94041338_94041339delinsGGCA1140725844ABCA4c.3392_3393delinsCC (p.Ala1131=)
c.-64-1250_-64-1249delinsCC (n.-64-1250_-64-1249delinsCC)
1g.94041339delCA227117ABCA4c.3393del (p.Ile1132SerfsTer16)
c.-64-1249del (n.-64-1249del)
 ClinVar dbSNP
1g.94041339G>ACA341291068ABCA4c.3392C>T (p.Ala1131Val)
c.-64-1250C>T (n.-64-1250C>T)
 dbSNP gnomAD v4
1g.94041339G>CCA341291063ABCA4c.3392C>G (p.Ala1131Gly)
c.-64-1250C>G (n.-64-1250C>G)
1g.94041339G=CA1181420054ABCA4c.3392C= (p.Ala1131=)
c.-64-1250C= (n.-64-1250C=)
1g.94041339G>TCA341291066ABCA4c.3392C>A (p.Ala1131Asp)
c.-64-1250C>A (n.-64-1250C>A)
1g.94041340C>ACA341291077ABCA4c.3391G>T (p.Ala1131Ser)
c.-64-1251G>T (n.-64-1251G>T)
1g.94041340C>GCA341291072ABCA4c.3391G>C (p.Ala1131Pro)
c.-64-1251G>C (n.-64-1251G>C)
1g.94041340C>TCA341291074ABCA4c.3391G>A (p.Ala1131Thr)
c.-64-1251G>A (n.-64-1251G>A)
1g.94041341A>CCA341291078ABCA4c.3390T>G (p.Ile1130Met)
c.-64-1252T>G (n.-64-1252T>G)
1g.94041341A>GCA418826332ABCA4c.3390T>C (p.Ile1130=)
c.-64-1252T>C (n.-64-1252T>C)
1g.94041341A>TCA418826333ABCA4c.3390T>A (p.Ile1130=)
c.-64-1252T>A (n.-64-1252T>A)
 gnomAD v4
1g.94041342A=CA1181420055ABCA4c.3389T= (p.Ile1130=)
c.-64-1253T= (n.-64-1253T=)
1g.94041342A>CCA341291080ABCA4c.3389T>G (p.Ile1130Ser)
c.-64-1253T>G (n.-64-1253T>G)
1g.94041342A>GCA16617206ABCA4c.3389T>C (p.Ile1130Thr)
c.-64-1253T>C (n.-64-1253T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94041342A>TCA341291083ABCA4c.3389T>A (p.Ile1130Asn)
c.-64-1253T>A (n.-64-1253T>A)
1g.94041343T>ACA341291084ABCA4c.3388A>T (p.Ile1130Phe)
c.-64-1254A>T (n.-64-1254A>T)
1g.94041343T>CCA341291086ABCA4c.3388A>G (p.Ile1130Val)
c.-64-1254A>G (n.-64-1254A>G)
1g.94041343T>GCA341291088ABCA4c.3388A>C (p.Ile1130Leu)
c.-64-1254A>C (n.-64-1254A>C)
 gnomAD v4
1g.94041344G>ACA418826334ABCA4c.3387C>T (p.Arg1129=)
c.-64-1255C>T (n.-64-1255C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94041344G>CCA418826335ABCA4c.3387C>G (p.Arg1129=)
c.-64-1255C>G (n.-64-1255C>G)
1g.94041344G=CA1181420056ABCA4c.3387C= (p.Arg1129=)
c.-64-1255C= (n.-64-1255C=)
1g.94041344G>TCA418826336ABCA4c.3387C>A (p.Arg1129=)
c.-64-1255C>A (n.-64-1255C>A)
1g.94041345C>ACA227116ABCA4c.3386G>T (p.Arg1129Leu)
c.-64-1256G>T (n.-64-1256G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041345C=CA1139894808ABCA4c.3386G= (p.Arg1129=)
c.-64-1256G= (n.-64-1256G=)
1g.94041345C>GCA341291092ABCA4c.3386G>C (p.Arg1129Pro)
c.-64-1256G>C (n.-64-1256G>C)
1g.94041345C>TCA341291094ABCA4c.3386G>A (p.Arg1129His)
c.-64-1256G>A (n.-64-1256G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94041346G>ACA957945ABCA4c.3385C>T (p.Arg1129Cys)
c.-64-1257C>T (n.-64-1257C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041346G>CCA341291096ABCA4c.3385C>G (p.Arg1129Gly)
c.-64-1257C>G (n.-64-1257C>G)
 ClinVar dbSNP gnomAD v4
1g.94041346G=CA1181420057ABCA4c.3385C= (p.Arg1129=)
c.-64-1257C= (n.-64-1257C=)
1g.94041346G>TCA957946ABCA4c.3385C>A (p.Arg1129Ser)
c.-64-1257C>A (n.-64-1257C>A)
 dbSNP ExAC gnomAD v2
1g.94041347G>ACA418826337ABCA4c.3384C>T (p.Asp1128=)
c.-64-1258C>T (n.-64-1258C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94041347G>CCA957947ABCA4c.3384C>G (p.Asp1128Glu)
c.-64-1258C>G (n.-64-1258C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041347G=CA1143695145ABCA4c.3384C= (p.Asp1128=)
c.-64-1258C= (n.-64-1258C=)
1g.94041347G>TCA341291106ABCA4c.3384C>A (p.Asp1128Glu)
c.-64-1258C>A (n.-64-1258C>A)
 ClinVar
1g.94041348T>ACA341291109ABCA4c.3383A>T (p.Asp1128Val)
c.-64-1259A>T (n.-64-1259A>T)
1g.94041348T>CCA341291111ABCA4c.3383A>G (p.Asp1128Gly)
c.-64-1259A>G (n.-64-1259A>G)
 ClinVar dbSNP
1g.94041348T>GCA341291113ABCA4c.3383A>C (p.Asp1128Ala)
c.-64-1259A>C (n.-64-1259A>C)
1g.94041348T=CA1181420058ABCA4c.3383A= (p.Asp1128=)
c.-64-1259A= (n.-64-1259A=)
1g.94041349C>ACA341291116ABCA4c.3382G>T (p.Asp1128Tyr)
c.-64-1260G>T (n.-64-1260G>T)
1g.94041349C=CA1181420059ABCA4c.3382G= (p.Asp1128=)
c.-64-1260G= (n.-64-1260G=)
1g.94041349C>GCA341291118ABCA4c.3382G>C (p.Asp1128His)
c.-64-1260G>C (n.-64-1260G>C)
1g.94041349C>TCA957948ABCA4c.3382G>A (p.Asp1128Asn)
c.-64-1260G>A (n.-64-1260G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.94041350C>ACA418826340ABCA4c.3381G>T (p.Gly1127=)
c.-64-1261G>T (n.-64-1261G>T)
1g.94041350C>GCA418826339ABCA4c.3381G>C (p.Gly1127=)
c.-64-1261G>C (n.-64-1261G>C)
1g.94041350C>TCA418826338ABCA4c.3381G>A (p.Gly1127=)
c.-64-1261G>A (n.-64-1261G>A)
 COSMIC
1g.94041351C>ACA341291122ABCA4c.3380G>T (p.Gly1127Val)
c.-64-1262G>T (n.-64-1262G>T)
1g.94041351C=CA1181420060ABCA4c.3380G= (p.Gly1127=)
c.-64-1262G= (n.-64-1262G=)
1g.94041351C>GCA341291125ABCA4c.3380G>C (p.Gly1127Ala)
c.-64-1262G>C (n.-64-1262G>C)
1g.94041351C>TCA341291128ABCA4c.3380G>A (p.Gly1127Glu)
c.-64-1262G>A (n.-64-1262G>A)
 ClinVar dbSNP
1g.94041352C>ACA341291140ABCA4c.3379G>T (p.Gly1127Trp)
c.-64-1263G>T (n.-64-1263G>T)
1g.94041352C=CA1181420061ABCA4c.3379G= (p.Gly1127=)
c.-64-1263G= (n.-64-1263G=)
1g.94041352C>GCA341291144ABCA4c.3379G>C (p.Gly1127Arg)
c.-64-1263G>C (n.-64-1263G>C)
1g.94041352C>TCA341291137ABCA4c.3379G>A (p.Gly1127Arg)
c.-64-1263G>A (n.-64-1263G>A)
 ClinVar dbSNP
1g.94041353A=CA1139849090ABCA4c.3378T= (p.Leu1126=)
c.-64-1264T= (n.-64-1264T=)
1g.94041353A>CCA418826341ABCA4c.3378T>G (p.Leu1126=)
c.-64-1264T>G (n.-64-1264T>G)
1g.94041353A>GCA418826342ABCA4c.3378T>C (p.Leu1126=)
c.-64-1264T>C (n.-64-1264T>C)
 ClinVar dbSNP gnomAD v4
1g.94041353A>TCA26863749ABCA4c.3378T>A (p.Leu1126=)
c.-64-1264T>A (n.-64-1264T>A)
 dbSNP
1g.94041354A=CA1139849091ABCA4c.3377T= (p.Leu1126=)
c.-64-1265T= (n.-64-1265T=)
1g.94041354A>CCA341291153ABCA4c.3377T>G (p.Leu1126Arg)
c.-64-1265T>G (n.-64-1265T>G)
1g.94041354A>GCA10602437ABCA4c.3377T>C (p.Leu1126Pro)
c.-64-1265T>C (n.-64-1265T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94041354A>TCA26863766ABCA4c.3377T>A (p.Leu1126His)
c.-64-1265T>A (n.-64-1265T>A)
 dbSNP
1g.94041355G>ACA341291156ABCA4c.3376C>T (p.Leu1126Phe)
c.-64-1266C>T (n.-64-1266C>T)
1g.94041355G>CCA341291159ABCA4c.3376C>G (p.Leu1126Val)
c.-64-1266C>G (n.-64-1266C>G)
 ClinVar dbSNP gnomAD v4
1g.94041355G=CA1181420062ABCA4c.3376C= (p.Leu1126=)
c.-64-1266C= (n.-64-1266C=)
1g.94041355G>TCA341291161ABCA4c.3376C>A (p.Leu1126Ile)
c.-64-1266C>A (n.-64-1266C>A)
1g.94041356G>ACA418826343ABCA4c.3375C>T (p.Leu1125=)
c.-64-1267C>T (n.-64-1267C>T)
 gnomAD v4
1g.94041356G>CCA418826344ABCA4c.3375C>G (p.Leu1125=)
c.-64-1267C>G (n.-64-1267C>G)
1g.94041356G>TCA418826345ABCA4c.3375C>A (p.Leu1125=)
c.-64-1267C>A (n.-64-1267C>A)
1g.94041357A=CA1139849092ABCA4c.3374T= (p.Leu1125=)
c.-64-1268T= (n.-64-1268T=)
1g.94041357A>CCA341291165ABCA4c.3374T>G (p.Leu1125Arg)
c.-64-1268T>G (n.-64-1268T>G)
1g.94041357A>GCA341291167ABCA4c.3374T>C (p.Leu1125Pro)
c.-64-1268T>C (n.-64-1268T>C)
1g.94041357A>TCA26863767ABCA4c.3374T>A (p.Leu1125His)
c.-64-1268T>A (n.-64-1268T>A)
 dbSNP
1g.94041358G>ACA341291172ABCA4c.3373C>T (p.Leu1125Phe)
c.-64-1269C>T (n.-64-1269C>T)
1g.94041358G>CCA341291174ABCA4c.3373C>G (p.Leu1125Val)
c.-64-1269C>G (n.-64-1269C>G)
1g.94041358G>TCA341291175ABCA4c.3373C>A (p.Leu1125Ile)
c.-64-1269C>A (n.-64-1269C>A)
1g.94041359G>ACA418826346ABCA4c.3372C>T (p.Asp1124=)
c.-64-1270C>T (n.-64-1270C>T)
 gnomAD v4
1g.94041359G>CCA957949ABCA4c.3372C>G (p.Asp1124Glu)
c.-64-1270C>G (n.-64-1270C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041359G=CA1148402329ABCA4c.3372C= (p.Asp1124=)
c.-64-1270C= (n.-64-1270C=)
1g.94041359G>TCA341291177ABCA4c.3372C>A (p.Asp1124Glu)
c.-64-1270C>A (n.-64-1270C>A)
1g.94041360T>ACA341291180ABCA4c.3371A>T (p.Asp1124Val)
c.-64-1271A>T (n.-64-1271A>T)
1g.94041360T>CCA341291184ABCA4c.3371A>G (p.Asp1124Gly)
c.-64-1271A>G (n.-64-1271A>G)
 ClinVar dbSNP gnomAD v4
1g.94041360T>GCA341291183ABCA4c.3371A>C (p.Asp1124Ala)
c.-64-1271A>C (n.-64-1271A>C)
1g.94041360T=CA1181420063ABCA4c.3371A= (p.Asp1124=)
c.-64-1271A= (n.-64-1271A=)
1g.94041361C>ACA341291187ABCA4c.3370G>T (p.Asp1124Tyr)
c.-64-1272G>T (n.-64-1272G>T)
 gnomAD v4
1g.94041361C=CA1181420064ABCA4c.3370G= (p.Asp1124=)
c.-64-1272G= (n.-64-1272G=)
1g.94041361C>GCA341291189ABCA4c.3370G>C (p.Asp1124His)
c.-64-1272G>C (n.-64-1272G>C)
1g.94041361C>TCA957950ABCA4c.3370G>A (p.Asp1124Asn)
c.-64-1272G>A (n.-64-1272G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041362G>ACA26863776ABCA4c.3369C>T (p.Ala1123=)
c.-64-1273C>T (n.-64-1273C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94041362G>CCA418826347ABCA4c.3369C>G (p.Ala1123=)
c.-64-1273C>G (n.-64-1273C>G)
1g.94041362G=CA1144018283ABCA4c.3369C= (p.Ala1123=)
c.-64-1273C= (n.-64-1273C=)
1g.94041362G>TCA418826348ABCA4c.3369C>A (p.Ala1123=)
c.-64-1273C>A (n.-64-1273C>A)
 gnomAD v4
1g.94041363G>ACA341291193ABCA4c.3368C>T (p.Ala1123Val)
c.-64-1274C>T (n.-64-1274C>T)
1g.94041363G>CCA341291194ABCA4c.3368C>G (p.Ala1123Gly)
c.-64-1274C>G (n.-64-1274C>G)
1g.94041363G>TCA341291195ABCA4c.3368C>A (p.Ala1123Asp)
c.-64-1274C>A (n.-64-1274C>A)
1g.94041364C>ACA341291199ABCA4c.3367G>T (p.Ala1123Ser)
c.-64-1275G>T (n.-64-1275G>T)
1g.94041364C>GCA341291200ABCA4c.3367G>C (p.Ala1123Pro)
c.-64-1275G>C (n.-64-1275G>C)
1g.94041364C>TCA341291202ABCA4c.3367G>A (p.Ala1123Thr)
c.-64-1275G>A (n.-64-1275G>A)
1g.94041365C>ACA341291204ABCA4c.3366G>T (p.Glu1122Asp)
c.-64-1276G>T (n.-64-1276G>T)
1g.94041365C=CA1140725845ABCA4c.3366G= (p.Glu1122=)
c.-64-1276G= (n.-64-1276G=)
1g.94041365C>GCA227114ABCA4c.3366G>C (p.Glu1122Asp)
c.-64-1276G>C (n.-64-1276G>C)
 ClinVar dbSNP
1g.94041365C>TCA418826349ABCA4c.3366G>A (p.Glu1122=)
c.-64-1276G>A (n.-64-1276G>A)
 gnomAD v4
1g.94041366T>ACA341291207ABCA4c.3365A>T (p.Glu1122Val)
c.-64-1277A>T (n.-64-1277A>T)
1g.94041366T>CCA341291209ABCA4c.3365A>G (p.Glu1122Gly)
c.-64-1277A>G (n.-64-1277A>G)
1g.94041366T>GCA341291212ABCA4c.3365A>C (p.Glu1122Ala)
c.-64-1277A>C (n.-64-1277A>C)
1g.94041367C>ACA341291213ABCA4c.3364G>T (p.Glu1122Ter)
c.-64-1278G>T (n.-64-1278G>T)
1g.94041367C=CA1140725846ABCA4c.3364G= (p.Glu1122=)
c.-64-1278G= (n.-64-1278G=)
1g.94041367C>GCA341291215ABCA4c.3364G>C (p.Glu1122Gln)
c.-64-1278G>C (n.-64-1278G>C)
1g.94041367C>TCA227113ABCA4c.3364G>A (p.Glu1122Lys)
c.-64-1278G>A (n.-64-1278G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041368G>ACA957951ABCA4c.3363C>T (p.Asp1121=)
c.-64-1279C>T (n.-64-1279C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041368G>CCA341291217ABCA4c.3363C>G (p.Asp1121Glu)
c.-64-1279C>G (n.-64-1279C>G)
1g.94041368G=CA1142096107ABCA4c.3363C= (p.Asp1121=)
c.-64-1279C= (n.-64-1279C=)
1g.94041368G>TCA957952ABCA4c.3363C>A (p.Asp1121Glu)
c.-64-1279C>A (n.-64-1279C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041370_94041375delCA2739272727ABCA4c.3358_3363del (p.Met1120_Asp1121del)
c.-64-1284_-64-1279del (n.-64-1284_-64-1279del)
 ClinVar
1g.94041369T>ACA341291222ABCA4c.3362A>T (p.Asp1121Val)
c.-64-1280A>T (n.-64-1280A>T)
1g.94041369T>CCA341291224ABCA4c.3362A>G (p.Asp1121Gly)
c.-64-1280A>G (n.-64-1280A>G)
1g.94041369T>GCA341291227ABCA4c.3362A>C (p.Asp1121Ala)
c.-64-1280A>C (n.-64-1280A>C)
1g.94041370C>ACA341291232ABCA4c.3361G>T (p.Asp1121Tyr)
c.-64-1281G>T (n.-64-1281G>T)
1g.94041370C>GCA341291228ABCA4c.3361G>C (p.Asp1121His)
c.-64-1281G>C (n.-64-1281G>C)
 ClinVar dbSNP gnomAD v4
1g.94041370C>TCA341291230ABCA4c.3361G>A (p.Asp1121Asn)
c.-64-1281G>A (n.-64-1281G>A)
 gnomAD v4
1g.94041371C>ACA341291236ABCA4c.3360G>T (p.Met1120Ile)
c.-64-1282G>T (n.-64-1282G>T)
1g.94041371C>GCA341291237ABCA4c.3360G>C (p.Met1120Ile)
c.-64-1282G>C (n.-64-1282G>C)
1g.94041371C>TCA341291239ABCA4c.3360G>A (p.Met1120Ile)
c.-64-1282G>A (n.-64-1282G>A)
 gnomAD v4
1g.94041372A=CA1144152624ABCA4c.3359T= (p.Met1120=)
c.-64-1283T= (n.-64-1283T=)
1g.94041372A>CCA341291242ABCA4c.3359T>G (p.Met1120Arg)
c.-64-1283T>G (n.-64-1283T>G)
1g.94041372A>GCA957953ABCA4c.3359T>C (p.Met1120Thr)
c.-64-1283T>C (n.-64-1283T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041372A>TCA341291246ABCA4c.3359T>A (p.Met1120Lys)
c.-64-1283T>A (n.-64-1283T>A)
 dbSNP
1g.94041373T>ACA341291249ABCA4c.3358A>T (p.Met1120Leu)
c.-64-1284A>T (n.-64-1284A>T)
1g.94041373T>CCA341291250ABCA4c.3358A>G (p.Met1120Val)
c.-64-1284A>G (n.-64-1284A>G)
1g.94041373T>GCA341291253ABCA4c.3358A>C (p.Met1120Leu)
c.-64-1284A>C (n.-64-1284A>C)
1g.94041374G>ACA26863800ABCA4c.3357C>T (p.His1119=)
c.-64-1285C>T (n.-64-1285C>T)
 dbSNP gnomAD v4
1g.94041374G>CCA341291256ABCA4c.3357C>G (p.His1119Gln)
c.-64-1285C>G (n.-64-1285C>G)
 ClinVar
1g.94041374G=CA1143409331ABCA4c.3357C= (p.His1119=)
c.-64-1285C= (n.-64-1285C=)
1g.94041374G>TCA341291258ABCA4c.3357C>A (p.His1119Gln)
c.-64-1285C>A (n.-64-1285C>A)
1g.94041375T>ACA341291262ABCA4c.3356A>T (p.His1119Leu)
c.-64-1286A>T (n.-64-1286A>T)
1g.94041375T>CCA341291265ABCA4c.3356A>G (p.His1119Arg)
c.-64-1286A>G (n.-64-1286A>G)
1g.94041375T>GCA341291260ABCA4c.3356A>C (p.His1119Pro)
c.-64-1286A>C (n.-64-1286A>C)
1g.94041376G>ACA341291270ABCA4c.3355C>T (p.His1119Tyr)
c.-64-1287C>T (n.-64-1287C>T)
 gnomAD v4
1g.94041376G>CCA341291268ABCA4c.3355C>G (p.His1119Asp)
c.-64-1287C>G (n.-64-1287C>G)
1g.94041376G=CA1181420065ABCA4c.3355C= (p.His1119=)
c.-64-1287C= (n.-64-1287C=)
1g.94041376G>TCA957954ABCA4c.3355C>A (p.His1119Asn)
c.-64-1287C>A (n.-64-1287C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041377G>ACA957955ABCA4c.3354C>T (p.His1118=)
c.-64-1288C>T (n.-64-1288C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041377G>CCA341291274ABCA4c.3354C>G (p.His1118Gln)
c.-64-1288C>G (n.-64-1288C>G)
 ClinVar
1g.94041377G=CA1181420066ABCA4c.3354C= (p.His1118=)
c.-64-1288C= (n.-64-1288C=)
1g.94041377G>TCA341291276ABCA4c.3354C>A (p.His1118Gln)
c.-64-1288C>A (n.-64-1288C>A)
 gnomAD v4
1g.94041378T>ACA341291279ABCA4c.3353A>T (p.His1118Leu)
c.-64-1289A>T (n.-64-1289A>T)
1g.94041378T>CCA341291281ABCA4c.3353A>G (p.His1118Arg)
c.-64-1289A>G (n.-64-1289A>G)
1g.94041378T>GCA341291282ABCA4c.3353A>C (p.His1118Pro)
c.-64-1289A>C (n.-64-1289A>C)
1g.94041379G>ACA957956ABCA4c.3352C>T (p.His1118Tyr)
c.-64-1290C>T (n.-64-1290C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041379G>CCA341291286ABCA4c.3352C>G (p.His1118Asp)
c.-64-1290C>G (n.-64-1290C>G)
 ClinVar dbSNP gnomAD v4
1g.94041379G=CA1143663602ABCA4c.3352C= (p.His1118=)
c.-64-1290C= (n.-64-1290C=)
1g.94041379G>TCA341291289ABCA4c.3352C>A (p.His1118Asn)
c.-64-1290C>A (n.-64-1290C>A)
 ClinVar
1g.94041380A>CCA418826350ABCA4c.3351T>G (p.Thr1117=)
c.-64-1291T>G (n.-64-1291T>G)
1g.94041380A>GCA418826351ABCA4c.3351T>C (p.Thr1117=)
c.-64-1291T>C (n.-64-1291T>C)
1g.94041380A>TCA418826352ABCA4c.3351T>A (p.Thr1117=)
c.-64-1291T>A (n.-64-1291T>A)
1g.94041381G>ACA341291292ABCA4c.3350C>T (p.Thr1117Ile)
c.-64-1292C>T (n.-64-1292C>T)
 dbSNP
1g.94041381G>CCA341291295ABCA4c.3350C>G (p.Thr1117Ser)
c.-64-1292C>G (n.-64-1292C>G)
1g.94041381G=CA1181420067ABCA4c.3350C= (p.Thr1117=)
c.-64-1292C= (n.-64-1292C=)
1g.94041381G>TCA341291297ABCA4c.3350C>A (p.Thr1117Asn)
c.-64-1292C>A (n.-64-1292C>A)
1g.94041382T>ACA341291305ABCA4c.3349A>T (p.Thr1117Ser)
c.-64-1293A>T (n.-64-1293A>T)
 gnomAD v4
1g.94041382T>CCA341291302ABCA4c.3349A>G (p.Thr1117Ala)
c.-64-1293A>G (n.-64-1293A>G)
 gnomAD v4
1g.94041382T>GCA341291301ABCA4c.3349A>C (p.Thr1117Pro)
c.-64-1293A>C (n.-64-1293A>C)
 ClinVar dbSNP
1g.94041383G>ACA418826353ABCA4c.3348C>T (p.Ser1116=)
c.-64-1294C>T (n.-64-1294C>T)
 gnomAD v4
1g.94041383G>CCA418826354ABCA4c.3348C>G (p.Ser1116=)
c.-64-1294C>G (n.-64-1294C>G)
1g.94041383G>TCA418826355ABCA4c.3348C>A (p.Ser1116=)
c.-64-1294C>A (n.-64-1294C>A)
1g.94041384G>ACA341291308ABCA4c.3347C>T (p.Ser1116Phe)
c.-64-1295C>T (n.-64-1295C>T)
1g.94041384G>CCA341291309ABCA4c.3347C>G (p.Ser1116Cys)
c.-64-1295C>G (n.-64-1295C>G)
1g.94041384G>TCA341291312ABCA4c.3347C>A (p.Ser1116Tyr)
c.-64-1295C>A (n.-64-1295C>A)
 COSMIC
1g.94041385A>CCA341291314ABCA4c.3346T>G (p.Ser1116Ala)
c.-64-1296T>G (n.-64-1296T>G)
1g.94041385A>GCA341291315ABCA4c.3346T>C (p.Ser1116Pro)
c.-64-1296T>C (n.-64-1296T>C)
1g.94041385A>TCA341291317ABCA4c.3346T>A (p.Ser1116Thr)
c.-64-1296T>A (n.-64-1296T>A)
1g.94041385_94041397delCA2586966922ABCA4c.3334_3346del (p.Thr1112ProfsTer?)
c.-64-1308_-64-1296del (n.-64-1308_-64-1296del)
1g.94041386C>ACA341291321ABCA4c.3345G>T (p.Met1115Ile)
c.-64-1297G>T (n.-64-1297G>T)
 dbSNP gnomAD v4
1g.94041386C=CA1143895780ABCA4c.3345G= (p.Met1115=)
c.-64-1297G= (n.-64-1297G=)
1g.94041386C>GCA341291323ABCA4c.3345G>C (p.Met1115Ile)
c.-64-1297G>C (n.-64-1297G>C)
1g.94041386C>TCA957957ABCA4c.3345G>A (p.Met1115Ile)
c.-64-1297G>A (n.-64-1297G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041387A=CA1144160497ABCA4c.3344T= (p.Met1115=)
c.-64-1298T= (n.-64-1298T=)
1g.94041387A>CCA341291327ABCA4c.3344T>G (p.Met1115Arg)
c.-64-1298T>G (n.-64-1298T>G)
 ClinVar dbSNP
1g.94041387A>GCA957958ABCA4c.3344T>C (p.Met1115Thr)
c.-64-1298T>C (n.-64-1298T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94041387A>TCA341291331ABCA4c.3344T>A (p.Met1115Lys)
c.-64-1298T>A (n.-64-1298T>A)
1g.94041393_94041395delCA2586966924ABCA4c.3342_3344del (p.Ile1114del)
c.-64-1300_-64-1298del (n.-64-1300_-64-1298del)
1g.94041388T>ACA341291339ABCA4c.3343A>T (p.Met1115Leu)
c.-64-1299A>T (n.-64-1299A>T)
1g.94041388T>CCA341291338ABCA4c.3343A>G (p.Met1115Val)
c.-64-1299A>G (n.-64-1299A>G)
1g.94041388T>GCA341291335ABCA4c.3343A>C (p.Met1115Leu)
c.-64-1299A>C (n.-64-1299A>C)
1g.94041389delCA2586966925ABCA4c.3342del (p.Met1115CysfsTer?)
c.-64-1300del (n.-64-1300del)
1g.94041389G>ACA418826356ABCA4c.3342C>T (p.Ile1114=)
c.-64-1300C>T (n.-64-1300C>T)
1g.94041389G>CCA341291341ABCA4c.3342C>G (p.Ile1114Met)
c.-64-1300C>G (n.-64-1300C>G)
 COSMIC
1g.94041389G=CA1181420068ABCA4c.3342C= (p.Ile1114=)
c.-64-1300C= (n.-64-1300C=)
1g.94041389G>TCA957959ABCA4c.3342C>A (p.Ile1114=)
c.-64-1300C>A (n.-64-1300C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94041390A>CCA341291344ABCA4c.3341T>G (p.Ile1114Ser)
c.-64-1301T>G (n.-64-1301T>G)
1g.94041390A>GCA341291345ABCA4c.3341T>C (p.Ile1114Thr)
c.-64-1301T>C (n.-64-1301T>C)
1g.94041390A>TCA341291347ABCA4c.3341T>A (p.Ile1114Asn)
c.-64-1301T>A (n.-64-1301T>A)
1g.94041391T>ACA341291349ABCA4c.3340A>T (p.Ile1114Phe)
c.-64-1302A>T (n.-64-1302A>T)
1g.94041391T>CCA341291350ABCA4c.3340A>G (p.Ile1114Val)
c.-64-1302A>G (n.-64-1302A>G)
 gnomAD v4
1g.94041391T>GCA341291352ABCA4c.3340A>C (p.Ile1114Leu)
c.-64-1302A>C (n.-64-1302A>C)
 dbSNP gnomAD v2 gnomAD v4
1g.94041391T=CA1181420069ABCA4c.3340A= (p.Ile1114=)
c.-64-1302A= (n.-64-1302A=)
1g.94041392G>ACA418826358ABCA4c.3339C>T (p.Ile1113=)
c.-64-1303C>T (n.-64-1303C>T)
 ClinVar dbSNP
1g.94041392G>CCA341291354ABCA4c.3339C>G (p.Ile1113Met)
c.-64-1303C>G (n.-64-1303C>G)
1g.94041392G=CA1181420070ABCA4c.3339C= (p.Ile1113=)
c.-64-1303C= (n.-64-1303C=)
1g.94041392G>TCA418826357ABCA4c.3339C>A (p.Ile1113=)
c.-64-1303C>A (n.-64-1303C>A)
1g.94041393A>CCA341291357ABCA4c.3338T>G (p.Ile1113Ser)
c.-64-1304T>G (n.-64-1304T>G)
1g.94041393A>GCA341291358ABCA4c.3338T>C (p.Ile1113Thr)
c.-64-1304T>C (n.-64-1304T>C)
1g.94041393A>TCA341291360ABCA4c.3338T>A (p.Ile1113Asn)
c.-64-1304T>A (n.-64-1304T>A)
1g.94041394T>ACA341291369ABCA4c.3337A>T (p.Ile1113Phe)
c.-64-1305A>T (n.-64-1305A>T)
 gnomAD v4
1g.94041394T>CCA341291367ABCA4c.3337A>G (p.Ile1113Val)
c.-64-1305A>G (n.-64-1305A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94041394T>GCA341291364ABCA4c.3337A>C (p.Ile1113Leu)
c.-64-1305A>C (n.-64-1305A>C)
1g.94041394T=CA1181420071ABCA4c.3337A= (p.Ile1113=)
c.-64-1305A= (n.-64-1305A=)
1g.94041395G>ACA418826359ABCA4c.3336C>T (p.Thr1112=)
c.-64-1306C>T (n.-64-1306C>T)
1g.94041395G>CCA418826361ABCA4c.3336C>G (p.Thr1112=)
c.-64-1306C>G (n.-64-1306C>G)
 ClinVar gnomAD v4
1g.94041395G=CA1181420072ABCA4c.3336C= (p.Thr1112=)
c.-64-1306C= (n.-64-1306C=)
1g.94041395G>TCA418826360ABCA4c.3336C>A (p.Thr1112=)
c.-64-1306C>A (n.-64-1306C>A)
 ClinVar dbSNP gnomAD v4
1g.94041396G>ACA341291372ABCA4c.3335C>T (p.Thr1112Ile)
c.-64-1307C>T (n.-64-1307C>T)
1g.94041396G>CCA341291374ABCA4c.3335C>G (p.Thr1112Ser)
c.-64-1307C>G (n.-64-1307C>G)
1g.94041396G=CA1140725847ABCA4c.3335C= (p.Thr1112=)
c.-64-1307C= (n.-64-1307C=)
1g.94041396G>TCA227112ABCA4c.3335C>A (p.Thr1112Asn)
c.-64-1307C>A (n.-64-1307C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched