UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23340338_23340339del | CA2695217753 | SACS | c.2185+13449_2185+13450del (n.2185+13449_2185+13450del) c.3567_3568del (p.Ala1191ThrfsTer6) c.3531_3532del (p.Ala1179ThrfsTer6) c.2177-10852_2177-10851del (n.2177-10852_2177-10851del) c.2291+1249_2291+1250del (n.2291+1249_2291+1250del) c.2318+1249_2318+1250del (n.2318+1249_2318+1250del) c.2203+6475_2203+6476del (n.2203+6475_2203+6476del) n.4543-10852_4543-10851del c.2220+6475_2220+6476del (n.2220+6475_2220+6476del) c.3540_3541del (p.Ala1182ThrfsTer6) c.2186-10852_2186-10851del (n.2186-10852_2186-10851del) c.2431+1109_2431+1110del (n.2431+1109_2431+1110del) c.1290_1291del (p.Ala432ThrfsTer6) c.1058-10852_1058-10851del (n.1058-10852_1058-10851del) c.2129+1109_2129+1110del c.3099_3100del (p.Ala1035ThrfsTer6) c.3591_3592del (p.Ala1199ThrfsTer6) c.3558_3559del (p.Ala1188ThrfsTer6) | |
| 13 | g.23340337A>C | CA387534713 | SACS | c.2185+13448T>G (n.2185+13448T>G) c.3566T>G (p.Leu1189Arg) c.3530T>G (p.Leu1177Arg) c.2177-10853T>G (n.2177-10853T>G) c.2291+1248T>G (n.2291+1248T>G) c.2318+1248T>G (n.2318+1248T>G) c.2203+6474T>G (n.2203+6474T>G) n.4543-10853T>G c.2220+6474T>G (n.2220+6474T>G) c.3539T>G (p.Leu1180Arg) c.2186-10853T>G (n.2186-10853T>G) c.2431+1108T>G (n.2431+1108T>G) c.1289T>G (p.Leu430Arg) c.1058-10853T>G (n.1058-10853T>G) c.2129+1108T>G c.3098T>G (p.Leu1033Arg) c.3590T>G (p.Leu1197Arg) c.3557T>G (p.Leu1186Arg) | |
| 13 | g.23340337A>G | CA387534715 | SACS | c.2185+13448T>C (n.2185+13448T>C) c.3566T>C (p.Leu1189Pro) c.3530T>C (p.Leu1177Pro) c.2177-10853T>C (n.2177-10853T>C) c.2291+1248T>C (n.2291+1248T>C) c.2318+1248T>C (n.2318+1248T>C) c.2203+6474T>C (n.2203+6474T>C) n.4543-10853T>C c.2220+6474T>C (n.2220+6474T>C) c.3539T>C (p.Leu1180Pro) c.2186-10853T>C (n.2186-10853T>C) c.2431+1108T>C (n.2431+1108T>C) c.1289T>C (p.Leu430Pro) c.1058-10853T>C (n.1058-10853T>C) c.2129+1108T>C c.3098T>C (p.Leu1033Pro) c.3590T>C (p.Leu1197Pro) c.3557T>C (p.Leu1186Pro) | |
| 13 | g.23340337A>T | CA387534716 | SACS | c.2185+13448T>A (n.2185+13448T>A) c.3566T>A (p.Leu1189His) c.3530T>A (p.Leu1177His) c.2177-10853T>A (n.2177-10853T>A) c.2291+1248T>A (n.2291+1248T>A) c.2318+1248T>A (n.2318+1248T>A) c.2203+6474T>A (n.2203+6474T>A) n.4543-10853T>A c.2220+6474T>A (n.2220+6474T>A) c.3539T>A (p.Leu1180His) c.2186-10853T>A (n.2186-10853T>A) c.2431+1108T>A (n.2431+1108T>A) c.1289T>A (p.Leu430His) c.1058-10853T>A (n.1058-10853T>A) c.2129+1108T>A c.3098T>A (p.Leu1033His) c.3590T>A (p.Leu1197His) c.3557T>A (p.Leu1186His) | |
| 13 | g.23340338G>A | CA387534722 | SACS | c.2185+13447C>T (n.2185+13447C>T) c.3565C>T (p.Leu1189Phe) c.3529C>T (p.Leu1177Phe) c.2177-10854C>T (n.2177-10854C>T) c.2291+1247C>T (n.2291+1247C>T) c.2318+1247C>T (n.2318+1247C>T) c.2203+6473C>T (n.2203+6473C>T) n.4543-10854C>T c.2220+6473C>T (n.2220+6473C>T) c.3538C>T (p.Leu1180Phe) c.2186-10854C>T (n.2186-10854C>T) c.2431+1107C>T (n.2431+1107C>T) c.1288C>T (p.Leu430Phe) c.1058-10854C>T (n.1058-10854C>T) c.2129+1107C>T c.3097C>T (p.Leu1033Phe) c.3589C>T (p.Leu1197Phe) c.3556C>T (p.Leu1186Phe) | dbSNP |
| 13 | g.23340338G>C | CA387534718 | SACS | c.2185+13447C>G (n.2185+13447C>G) c.3565C>G (p.Leu1189Val) c.3529C>G (p.Leu1177Val) c.2177-10854C>G (n.2177-10854C>G) c.2291+1247C>G (n.2291+1247C>G) c.2318+1247C>G (n.2318+1247C>G) c.2203+6473C>G (n.2203+6473C>G) n.4543-10854C>G c.2220+6473C>G (n.2220+6473C>G) c.3538C>G (p.Leu1180Val) c.2186-10854C>G (n.2186-10854C>G) c.2431+1107C>G (n.2431+1107C>G) c.1288C>G (p.Leu430Val) c.1058-10854C>G (n.1058-10854C>G) c.2129+1107C>G c.3097C>G (p.Leu1033Val) c.3589C>G (p.Leu1197Val) c.3556C>G (p.Leu1186Val) | |
| 13 | g.23340338G= | CA2078642254 | SACS | c.2185+13447C= (n.2185+13447C=) c.3565C= (p.Leu1189=) c.3529C= (p.Leu1177=) c.2177-10854C= (n.2177-10854C=) c.2291+1247C= (n.2291+1247C=) c.2318+1247C= (n.2318+1247C=) c.2203+6473C= (n.2203+6473C=) n.4543-10854C= c.2220+6473C= (n.2220+6473C=) c.3538C= (p.Leu1180=) c.2186-10854C= (n.2186-10854C=) c.2431+1107C= (n.2431+1107C=) c.1288C= (p.Leu430=) c.1058-10854C= (n.1058-10854C=) c.2129+1107C= c.3097C= (p.Leu1033=) c.3589C= (p.Leu1197=) c.3556C= (p.Leu1186=) | |
| 13 | g.23340338G>T | CA387534720 | SACS | c.2185+13447C>A (n.2185+13447C>A) c.3565C>A (p.Leu1189Ile) c.3529C>A (p.Leu1177Ile) c.2177-10854C>A (n.2177-10854C>A) c.2291+1247C>A (n.2291+1247C>A) c.2318+1247C>A (n.2318+1247C>A) c.2203+6473C>A (n.2203+6473C>A) n.4543-10854C>A c.2220+6473C>A (n.2220+6473C>A) c.3538C>A (p.Leu1180Ile) c.2186-10854C>A (n.2186-10854C>A) c.2431+1107C>A (n.2431+1107C>A) c.1288C>A (p.Leu430Ile) c.1058-10854C>A (n.1058-10854C>A) c.2129+1107C>A c.3097C>A (p.Leu1033Ile) c.3589C>A (p.Leu1197Ile) c.3556C>A (p.Leu1186Ile) | |
| 13 | g.23340339A>C | CA387534724 | SACS | c.2185+13446T>G (n.2185+13446T>G) c.3564T>G (p.Asn1188Lys) c.3528T>G (p.Asn1176Lys) c.2177-10855T>G (n.2177-10855T>G) c.2291+1246T>G (n.2291+1246T>G) c.2318+1246T>G (n.2318+1246T>G) c.2203+6472T>G (n.2203+6472T>G) n.4543-10855T>G c.2220+6472T>G (n.2220+6472T>G) c.3537T>G (p.Asn1179Lys) c.2186-10855T>G (n.2186-10855T>G) c.2431+1106T>G (n.2431+1106T>G) c.1287T>G (p.Asn429Lys) c.1058-10855T>G (n.1058-10855T>G) c.2129+1106T>G c.3096T>G (p.Asn1032Lys) c.3588T>G (p.Asn1196Lys) c.3555T>G (p.Asn1185Lys) | |
| 13 | g.23340339A>G | CA483163337 | SACS | c.2185+13446T>C (n.2185+13446T>C) c.3564T>C (p.Asn1188=) c.3528T>C (p.Asn1176=) c.2177-10855T>C (n.2177-10855T>C) c.2291+1246T>C (n.2291+1246T>C) c.2318+1246T>C (n.2318+1246T>C) c.2203+6472T>C (n.2203+6472T>C) n.4543-10855T>C c.2220+6472T>C (n.2220+6472T>C) c.3537T>C (p.Asn1179=) c.2186-10855T>C (n.2186-10855T>C) c.2431+1106T>C (n.2431+1106T>C) c.1287T>C (p.Asn429=) c.1058-10855T>C (n.1058-10855T>C) c.2129+1106T>C c.3096T>C (p.Asn1032=) c.3588T>C (p.Asn1196=) c.3555T>C (p.Asn1185=) | |
| 13 | g.23340339A>T | CA387534726 | SACS | c.2185+13446T>A (n.2185+13446T>A) c.3564T>A (p.Asn1188Lys) c.3528T>A (p.Asn1176Lys) c.2177-10855T>A (n.2177-10855T>A) c.2291+1246T>A (n.2291+1246T>A) c.2318+1246T>A (n.2318+1246T>A) c.2203+6472T>A (n.2203+6472T>A) n.4543-10855T>A c.2220+6472T>A (n.2220+6472T>A) c.3537T>A (p.Asn1179Lys) c.2186-10855T>A (n.2186-10855T>A) c.2431+1106T>A (n.2431+1106T>A) c.1287T>A (p.Asn429Lys) c.1058-10855T>A (n.1058-10855T>A) c.2129+1106T>A c.3096T>A (p.Asn1032Lys) c.3588T>A (p.Asn1196Lys) c.3555T>A (p.Asn1185Lys) | |
| 13 | g.23340340T>A | CA387534729 | SACS | c.2185+13445A>T (n.2185+13445A>T) c.3563A>T (p.Asn1188Ile) c.3527A>T (p.Asn1176Ile) c.2177-10856A>T (n.2177-10856A>T) c.2291+1245A>T (n.2291+1245A>T) c.2318+1245A>T (n.2318+1245A>T) c.2203+6471A>T (n.2203+6471A>T) n.4543-10856A>T c.2220+6471A>T (n.2220+6471A>T) c.3536A>T (p.Asn1179Ile) c.2186-10856A>T (n.2186-10856A>T) c.2431+1105A>T (n.2431+1105A>T) c.1286A>T (p.Asn429Ile) c.1058-10856A>T (n.1058-10856A>T) c.2129+1105A>T c.3095A>T (p.Asn1032Ile) c.3587A>T (p.Asn1196Ile) c.3554A>T (p.Asn1185Ile) | |
| 13 | g.23340340T>C | CA387534731 | SACS | c.2185+13445A>G (n.2185+13445A>G) c.3563A>G (p.Asn1188Ser) c.3527A>G (p.Asn1176Ser) c.2177-10856A>G (n.2177-10856A>G) c.2291+1245A>G (n.2291+1245A>G) c.2318+1245A>G (n.2318+1245A>G) c.2203+6471A>G (n.2203+6471A>G) n.4543-10856A>G c.2220+6471A>G (n.2220+6471A>G) c.3536A>G (p.Asn1179Ser) c.2186-10856A>G (n.2186-10856A>G) c.2431+1105A>G (n.2431+1105A>G) c.1286A>G (p.Asn429Ser) c.1058-10856A>G (n.1058-10856A>G) c.2129+1105A>G c.3095A>G (p.Asn1032Ser) c.3587A>G (p.Asn1196Ser) c.3554A>G (p.Asn1185Ser) | |
| 13 | g.23340340T>G | CA387534733 | SACS | c.2185+13445A>C (n.2185+13445A>C) c.3563A>C (p.Asn1188Thr) c.3527A>C (p.Asn1176Thr) c.2177-10856A>C (n.2177-10856A>C) c.2291+1245A>C (n.2291+1245A>C) c.2318+1245A>C (n.2318+1245A>C) c.2203+6471A>C (n.2203+6471A>C) n.4543-10856A>C c.2220+6471A>C (n.2220+6471A>C) c.3536A>C (p.Asn1179Thr) c.2186-10856A>C (n.2186-10856A>C) c.2431+1105A>C (n.2431+1105A>C) c.1286A>C (p.Asn429Thr) c.1058-10856A>C (n.1058-10856A>C) c.2129+1105A>C c.3095A>C (p.Asn1032Thr) c.3587A>C (p.Asn1196Thr) c.3554A>C (p.Asn1185Thr) | |
| 13 | g.23340341T>A | CA387534737 | SACS | c.2185+13444A>T (n.2185+13444A>T) c.3562A>T (p.Asn1188Tyr) c.3526A>T (p.Asn1176Tyr) c.2177-10857A>T (n.2177-10857A>T) c.2291+1244A>T (n.2291+1244A>T) c.2318+1244A>T (n.2318+1244A>T) c.2203+6470A>T (n.2203+6470A>T) n.4543-10857A>T c.2220+6470A>T (n.2220+6470A>T) c.3535A>T (p.Asn1179Tyr) c.2186-10857A>T (n.2186-10857A>T) c.2431+1104A>T (n.2431+1104A>T) c.1285A>T (p.Asn429Tyr) c.1058-10857A>T (n.1058-10857A>T) c.2129+1104A>T c.3094A>T (p.Asn1032Tyr) c.3586A>T (p.Asn1196Tyr) c.3553A>T (p.Asn1185Tyr) | gnomAD v4 |
| 13 | g.23340341T>C | CA387534741 | SACS | c.2185+13444A>G (n.2185+13444A>G) c.3562A>G (p.Asn1188Asp) c.3526A>G (p.Asn1176Asp) c.2177-10857A>G (n.2177-10857A>G) c.2291+1244A>G (n.2291+1244A>G) c.2318+1244A>G (n.2318+1244A>G) c.2203+6470A>G (n.2203+6470A>G) n.4543-10857A>G c.2220+6470A>G (n.2220+6470A>G) c.3535A>G (p.Asn1179Asp) c.2186-10857A>G (n.2186-10857A>G) c.2431+1104A>G (n.2431+1104A>G) c.1285A>G (p.Asn429Asp) c.1058-10857A>G (n.1058-10857A>G) c.2129+1104A>G c.3094A>G (p.Asn1032Asp) c.3586A>G (p.Asn1196Asp) c.3553A>G (p.Asn1185Asp) | gnomAD v4 |
| 13 | g.23340341T>G | CA387534739 | SACS | c.2185+13444A>C (n.2185+13444A>C) c.3562A>C (p.Asn1188His) c.3526A>C (p.Asn1176His) c.2177-10857A>C (n.2177-10857A>C) c.2291+1244A>C (n.2291+1244A>C) c.2318+1244A>C (n.2318+1244A>C) c.2203+6470A>C (n.2203+6470A>C) n.4543-10857A>C c.2220+6470A>C (n.2220+6470A>C) c.3535A>C (p.Asn1179His) c.2186-10857A>C (n.2186-10857A>C) c.2431+1104A>C (n.2431+1104A>C) c.1285A>C (p.Asn429His) c.1058-10857A>C (n.1058-10857A>C) c.2129+1104A>C c.3094A>C (p.Asn1032His) c.3586A>C (p.Asn1196His) c.3553A>C (p.Asn1185His) | |
| 13 | g.23340342A>C | CA387534743 | SACS | c.2185+13443T>G (n.2185+13443T>G) c.3561T>G (p.Cys1187Trp) c.3525T>G (p.Cys1175Trp) c.2177-10858T>G (n.2177-10858T>G) c.2291+1243T>G (n.2291+1243T>G) c.2318+1243T>G (n.2318+1243T>G) c.2203+6469T>G (n.2203+6469T>G) n.4543-10858T>G c.2220+6469T>G (n.2220+6469T>G) c.3534T>G (p.Cys1178Trp) c.2186-10858T>G (n.2186-10858T>G) c.2431+1103T>G (n.2431+1103T>G) c.1284T>G (p.Cys428Trp) c.1058-10858T>G (n.1058-10858T>G) c.2129+1103T>G c.3093T>G (p.Cys1031Trp) c.3585T>G (p.Cys1195Trp) c.3552T>G (p.Cys1184Trp) | |
| 13 | g.23340342A>G | CA483163339 | SACS | c.2185+13443T>C (n.2185+13443T>C) c.3561T>C (p.Cys1187=) c.3525T>C (p.Cys1175=) c.2177-10858T>C (n.2177-10858T>C) c.2291+1243T>C (n.2291+1243T>C) c.2318+1243T>C (n.2318+1243T>C) c.2203+6469T>C (n.2203+6469T>C) n.4543-10858T>C c.2220+6469T>C (n.2220+6469T>C) c.3534T>C (p.Cys1178=) c.2186-10858T>C (n.2186-10858T>C) c.2431+1103T>C (n.2431+1103T>C) c.1284T>C (p.Cys428=) c.1058-10858T>C (n.1058-10858T>C) c.2129+1103T>C c.3093T>C (p.Cys1031=) c.3585T>C (p.Cys1195=) c.3552T>C (p.Cys1184=) | |
| 13 | g.23340342A>T | CA387534744 | SACS | c.2185+13443T>A (n.2185+13443T>A) c.3561T>A (p.Cys1187Ter) c.3525T>A (p.Cys1175Ter) c.2177-10858T>A (n.2177-10858T>A) c.2291+1243T>A (n.2291+1243T>A) c.2318+1243T>A (n.2318+1243T>A) c.2203+6469T>A (n.2203+6469T>A) n.4543-10858T>A c.2220+6469T>A (n.2220+6469T>A) c.3534T>A (p.Cys1178Ter) c.2186-10858T>A (n.2186-10858T>A) c.2431+1103T>A (n.2431+1103T>A) c.1284T>A (p.Cys428Ter) c.1058-10858T>A (n.1058-10858T>A) c.2129+1103T>A c.3093T>A (p.Cys1031Ter) c.3585T>A (p.Cys1195Ter) c.3552T>A (p.Cys1184Ter) | |
| 13 | g.23340343C>A | CA387534745 | SACS | c.2185+13442G>T (n.2185+13442G>T) c.3560G>T (p.Cys1187Phe) c.3524G>T (p.Cys1175Phe) c.2177-10859G>T (n.2177-10859G>T) c.2291+1242G>T (n.2291+1242G>T) c.2318+1242G>T (n.2318+1242G>T) c.2203+6468G>T (n.2203+6468G>T) n.4543-10859G>T c.2220+6468G>T (n.2220+6468G>T) c.3533G>T (p.Cys1178Phe) c.2186-10859G>T (n.2186-10859G>T) c.2431+1102G>T (n.2431+1102G>T) c.1283G>T (p.Cys428Phe) c.1058-10859G>T (n.1058-10859G>T) c.2129+1102G>T c.3092G>T (p.Cys1031Phe) c.3584G>T (p.Cys1195Phe) c.3551G>T (p.Cys1184Phe) | |
| 13 | g.23340343C>G | CA387534746 | SACS | c.2185+13442G>C (n.2185+13442G>C) c.3560G>C (p.Cys1187Ser) c.3524G>C (p.Cys1175Ser) c.2177-10859G>C (n.2177-10859G>C) c.2291+1242G>C (n.2291+1242G>C) c.2318+1242G>C (n.2318+1242G>C) c.2203+6468G>C (n.2203+6468G>C) n.4543-10859G>C c.2220+6468G>C (n.2220+6468G>C) c.3533G>C (p.Cys1178Ser) c.2186-10859G>C (n.2186-10859G>C) c.2431+1102G>C (n.2431+1102G>C) c.1283G>C (p.Cys428Ser) c.1058-10859G>C (n.1058-10859G>C) c.2129+1102G>C c.3092G>C (p.Cys1031Ser) c.3584G>C (p.Cys1195Ser) c.3551G>C (p.Cys1184Ser) | ClinVar |
| 13 | g.23340343C>T | CA387534747 | SACS | c.2185+13442G>A (n.2185+13442G>A) c.3560G>A (p.Cys1187Tyr) c.3524G>A (p.Cys1175Tyr) c.2177-10859G>A (n.2177-10859G>A) c.2291+1242G>A (n.2291+1242G>A) c.2318+1242G>A (n.2318+1242G>A) c.2203+6468G>A (n.2203+6468G>A) n.4543-10859G>A c.2220+6468G>A (n.2220+6468G>A) c.3533G>A (p.Cys1178Tyr) c.2186-10859G>A (n.2186-10859G>A) c.2431+1102G>A (n.2431+1102G>A) c.1283G>A (p.Cys428Tyr) c.1058-10859G>A (n.1058-10859G>A) c.2129+1102G>A c.3092G>A (p.Cys1031Tyr) c.3584G>A (p.Cys1195Tyr) c.3551G>A (p.Cys1184Tyr) | |
| 13 | g.23340344A>C | CA387534750 | SACS | c.2185+13441T>G (n.2185+13441T>G) c.3559T>G (p.Cys1187Gly) c.3523T>G (p.Cys1175Gly) c.2177-10860T>G (n.2177-10860T>G) c.2291+1241T>G (n.2291+1241T>G) c.2318+1241T>G (n.2318+1241T>G) c.2203+6467T>G (n.2203+6467T>G) n.4543-10860T>G c.2220+6467T>G (n.2220+6467T>G) c.3532T>G (p.Cys1178Gly) c.2186-10860T>G (n.2186-10860T>G) c.2431+1101T>G (n.2431+1101T>G) c.1282T>G (p.Cys428Gly) c.1058-10860T>G (n.1058-10860T>G) c.2129+1101T>G c.3091T>G (p.Cys1031Gly) c.3583T>G (p.Cys1195Gly) c.3550T>G (p.Cys1184Gly) | |
| 13 | g.23340344A>G | CA387534752 | SACS | c.2185+13441T>C (n.2185+13441T>C) c.3559T>C (p.Cys1187Arg) c.3523T>C (p.Cys1175Arg) c.2177-10860T>C (n.2177-10860T>C) c.2291+1241T>C (n.2291+1241T>C) c.2318+1241T>C (n.2318+1241T>C) c.2203+6467T>C (n.2203+6467T>C) n.4543-10860T>C c.2220+6467T>C (n.2220+6467T>C) c.3532T>C (p.Cys1178Arg) c.2186-10860T>C (n.2186-10860T>C) c.2431+1101T>C (n.2431+1101T>C) c.1282T>C (p.Cys428Arg) c.1058-10860T>C (n.1058-10860T>C) c.2129+1101T>C c.3091T>C (p.Cys1031Arg) c.3583T>C (p.Cys1195Arg) c.3550T>C (p.Cys1184Arg) | |
| 13 | g.23340344A>T | CA387534754 | SACS | c.2185+13441T>A (n.2185+13441T>A) c.3559T>A (p.Cys1187Ser) c.3523T>A (p.Cys1175Ser) c.2177-10860T>A (n.2177-10860T>A) c.2291+1241T>A (n.2291+1241T>A) c.2318+1241T>A (n.2318+1241T>A) c.2203+6467T>A (n.2203+6467T>A) n.4543-10860T>A c.2220+6467T>A (n.2220+6467T>A) c.3532T>A (p.Cys1178Ser) c.2186-10860T>A (n.2186-10860T>A) c.2431+1101T>A (n.2431+1101T>A) c.1282T>A (p.Cys428Ser) c.1058-10860T>A (n.1058-10860T>A) c.2129+1101T>A c.3091T>A (p.Cys1031Ser) c.3583T>A (p.Cys1195Ser) c.3550T>A (p.Cys1184Ser) | |
| 13 | g.23340345G>A | CA483163343 | SACS | c.2185+13440C>T (n.2185+13440C>T) c.3558C>T (p.Leu1186=) c.3522C>T (p.Leu1174=) c.2177-10861C>T (n.2177-10861C>T) c.2291+1240C>T (n.2291+1240C>T) c.2318+1240C>T (n.2318+1240C>T) c.2203+6466C>T (n.2203+6466C>T) n.4543-10861C>T c.2220+6466C>T (n.2220+6466C>T) c.3531C>T (p.Leu1177=) c.2186-10861C>T (n.2186-10861C>T) c.2431+1100C>T (n.2431+1100C>T) c.1281C>T (p.Leu427=) c.1058-10861C>T (n.1058-10861C>T) c.2129+1100C>T c.3090C>T (p.Leu1030=) c.3582C>T (p.Leu1194=) c.3549C>T (p.Leu1183=) | ClinVar dbSNP |
| 13 | g.23340345G>C | CA483163340 | SACS | c.2185+13440C>G (n.2185+13440C>G) c.3558C>G (p.Leu1186=) c.3522C>G (p.Leu1174=) c.2177-10861C>G (n.2177-10861C>G) c.2291+1240C>G (n.2291+1240C>G) c.2318+1240C>G (n.2318+1240C>G) c.2203+6466C>G (n.2203+6466C>G) n.4543-10861C>G c.2220+6466C>G (n.2220+6466C>G) c.3531C>G (p.Leu1177=) c.2186-10861C>G (n.2186-10861C>G) c.2431+1100C>G (n.2431+1100C>G) c.1281C>G (p.Leu427=) c.1058-10861C>G (n.1058-10861C>G) c.2129+1100C>G c.3090C>G (p.Leu1030=) c.3582C>G (p.Leu1194=) c.3549C>G (p.Leu1183=) | |
| 13 | g.23340345G>T | CA483163341 | SACS | c.2185+13440C>A (n.2185+13440C>A) c.3558C>A (p.Leu1186=) c.3522C>A (p.Leu1174=) c.2177-10861C>A (n.2177-10861C>A) c.2291+1240C>A (n.2291+1240C>A) c.2318+1240C>A (n.2318+1240C>A) c.2203+6466C>A (n.2203+6466C>A) n.4543-10861C>A c.2220+6466C>A (n.2220+6466C>A) c.3531C>A (p.Leu1177=) c.2186-10861C>A (n.2186-10861C>A) c.2431+1100C>A (n.2431+1100C>A) c.1281C>A (p.Leu427=) c.1058-10861C>A (n.1058-10861C>A) c.2129+1100C>A c.3090C>A (p.Leu1030=) c.3582C>A (p.Leu1194=) c.3549C>A (p.Leu1183=) | |
| 13 | g.23340346A>C | CA387534755 | SACS | c.2185+13439T>G (n.2185+13439T>G) c.3557T>G (p.Leu1186Arg) c.3521T>G (p.Leu1174Arg) c.2177-10862T>G (n.2177-10862T>G) c.2291+1239T>G (n.2291+1239T>G) c.2318+1239T>G (n.2318+1239T>G) c.2203+6465T>G (n.2203+6465T>G) n.4543-10862T>G c.2220+6465T>G (n.2220+6465T>G) c.3530T>G (p.Leu1177Arg) c.2186-10862T>G (n.2186-10862T>G) c.2431+1099T>G (n.2431+1099T>G) c.1280T>G (p.Leu427Arg) c.1058-10862T>G (n.1058-10862T>G) c.2129+1099T>G c.3089T>G (p.Leu1030Arg) c.3581T>G (p.Leu1194Arg) c.3548T>G (p.Leu1183Arg) | |
| 13 | g.23340346A>G | CA387534756 | SACS | c.2185+13439T>C (n.2185+13439T>C) c.3557T>C (p.Leu1186Pro) c.3521T>C (p.Leu1174Pro) c.2177-10862T>C (n.2177-10862T>C) c.2291+1239T>C (n.2291+1239T>C) c.2318+1239T>C (n.2318+1239T>C) c.2203+6465T>C (n.2203+6465T>C) n.4543-10862T>C c.2220+6465T>C (n.2220+6465T>C) c.3530T>C (p.Leu1177Pro) c.2186-10862T>C (n.2186-10862T>C) c.2431+1099T>C (n.2431+1099T>C) c.1280T>C (p.Leu427Pro) c.1058-10862T>C (n.1058-10862T>C) c.2129+1099T>C c.3089T>C (p.Leu1030Pro) c.3581T>C (p.Leu1194Pro) c.3548T>C (p.Leu1183Pro) | |
| 13 | g.23340346A>T | CA387534757 | SACS | c.2185+13439T>A (n.2185+13439T>A) c.3557T>A (p.Leu1186His) c.3521T>A (p.Leu1174His) c.2177-10862T>A (n.2177-10862T>A) c.2291+1239T>A (n.2291+1239T>A) c.2318+1239T>A (n.2318+1239T>A) c.2203+6465T>A (n.2203+6465T>A) n.4543-10862T>A c.2220+6465T>A (n.2220+6465T>A) c.3530T>A (p.Leu1177His) c.2186-10862T>A (n.2186-10862T>A) c.2431+1099T>A (n.2431+1099T>A) c.1280T>A (p.Leu427His) c.1058-10862T>A (n.1058-10862T>A) c.2129+1099T>A c.3089T>A (p.Leu1030His) c.3581T>A (p.Leu1194His) c.3548T>A (p.Leu1183His) | |
| 13 | g.23340347G>A | CA387534760 | SACS | c.2185+13438C>T (n.2185+13438C>T) c.3556C>T (p.Leu1186Phe) c.3520C>T (p.Leu1174Phe) c.2177-10863C>T (n.2177-10863C>T) c.2291+1238C>T (n.2291+1238C>T) c.2318+1238C>T (n.2318+1238C>T) c.2203+6464C>T (n.2203+6464C>T) n.4543-10863C>T c.2220+6464C>T (n.2220+6464C>T) c.3529C>T (p.Leu1177Phe) c.2186-10863C>T (n.2186-10863C>T) c.2431+1098C>T (n.2431+1098C>T) c.1279C>T (p.Leu427Phe) c.1058-10863C>T (n.1058-10863C>T) c.2129+1098C>T c.3088C>T (p.Leu1030Phe) c.3580C>T (p.Leu1194Phe) c.3547C>T (p.Leu1183Phe) | gnomAD v4 |
| 13 | g.23340347G>C | CA246662142 | SACS | c.2185+13438C>G (n.2185+13438C>G) c.3556C>G (p.Leu1186Val) c.3520C>G (p.Leu1174Val) c.2177-10863C>G (n.2177-10863C>G) c.2291+1238C>G (n.2291+1238C>G) c.2318+1238C>G (n.2318+1238C>G) c.2203+6464C>G (n.2203+6464C>G) n.4543-10863C>G c.2220+6464C>G (n.2220+6464C>G) c.3529C>G (p.Leu1177Val) c.2186-10863C>G (n.2186-10863C>G) c.2431+1098C>G (n.2431+1098C>G) c.1279C>G (p.Leu427Val) c.1058-10863C>G (n.1058-10863C>G) c.2129+1098C>G c.3088C>G (p.Leu1030Val) c.3580C>G (p.Leu1194Val) c.3547C>G (p.Leu1183Val) | dbSNP |
| 13 | g.23340347G= | CA2078642259 | SACS | c.2185+13438C= (n.2185+13438C=) c.3556C= (p.Leu1186=) c.3520C= (p.Leu1174=) c.2177-10863C= (n.2177-10863C=) c.2291+1238C= (n.2291+1238C=) c.2318+1238C= (n.2318+1238C=) c.2203+6464C= (n.2203+6464C=) n.4543-10863C= c.2220+6464C= (n.2220+6464C=) c.3529C= (p.Leu1177=) c.2186-10863C= (n.2186-10863C=) c.2431+1098C= (n.2431+1098C=) c.1279C= (p.Leu427=) c.1058-10863C= (n.1058-10863C=) c.2129+1098C= c.3088C= (p.Leu1030=) c.3580C= (p.Leu1194=) c.3547C= (p.Leu1183=) | |
| 13 | g.23340347G>T | CA387534761 | SACS | c.2185+13438C>A (n.2185+13438C>A) c.3556C>A (p.Leu1186Ile) c.3520C>A (p.Leu1174Ile) c.2177-10863C>A (n.2177-10863C>A) c.2291+1238C>A (n.2291+1238C>A) c.2318+1238C>A (n.2318+1238C>A) c.2203+6464C>A (n.2203+6464C>A) n.4543-10863C>A c.2220+6464C>A (n.2220+6464C>A) c.3529C>A (p.Leu1177Ile) c.2186-10863C>A (n.2186-10863C>A) c.2431+1098C>A (n.2431+1098C>A) c.1279C>A (p.Leu427Ile) c.1058-10863C>A (n.1058-10863C>A) c.2129+1098C>A c.3088C>A (p.Leu1030Ile) c.3580C>A (p.Leu1194Ile) c.3547C>A (p.Leu1183Ile) | |
| 13 | g.23340348A= | CA2078642264 | SACS | c.2185+13437T= (n.2185+13437T=) c.3555T= (p.Asp1185=) c.3519T= (p.Asp1173=) c.2177-10864T= (n.2177-10864T=) c.2291+1237T= (n.2291+1237T=) c.2318+1237T= (n.2318+1237T=) c.2203+6463T= (n.2203+6463T=) n.4543-10864T= c.2220+6463T= (n.2220+6463T=) c.3528T= (p.Asp1176=) c.2186-10864T= (n.2186-10864T=) c.2431+1097T= (n.2431+1097T=) c.1278T= (p.Asp426=) c.1058-10864T= (n.1058-10864T=) c.2129+1097T= c.3087T= (p.Asp1029=) c.3579T= (p.Asp1193=) c.3546T= (p.Asp1182=) | |
| 13 | g.23340348A>C | CA387534764 | SACS | c.2185+13437T>G (n.2185+13437T>G) c.3555T>G (p.Asp1185Glu) c.3519T>G (p.Asp1173Glu) c.2177-10864T>G (n.2177-10864T>G) c.2291+1237T>G (n.2291+1237T>G) c.2318+1237T>G (n.2318+1237T>G) c.2203+6463T>G (n.2203+6463T>G) n.4543-10864T>G c.2220+6463T>G (n.2220+6463T>G) c.3528T>G (p.Asp1176Glu) c.2186-10864T>G (n.2186-10864T>G) c.2431+1097T>G (n.2431+1097T>G) c.1278T>G (p.Asp426Glu) c.1058-10864T>G (n.1058-10864T>G) c.2129+1097T>G c.3087T>G (p.Asp1029Glu) c.3579T>G (p.Asp1193Glu) c.3546T>G (p.Asp1182Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23340348A>G | CA483163345 | SACS | c.2185+13437T>C (n.2185+13437T>C) c.3555T>C (p.Asp1185=) c.3519T>C (p.Asp1173=) c.2177-10864T>C (n.2177-10864T>C) c.2291+1237T>C (n.2291+1237T>C) c.2318+1237T>C (n.2318+1237T>C) c.2203+6463T>C (n.2203+6463T>C) n.4543-10864T>C c.2220+6463T>C (n.2220+6463T>C) c.3528T>C (p.Asp1176=) c.2186-10864T>C (n.2186-10864T>C) c.2431+1097T>C (n.2431+1097T>C) c.1278T>C (p.Asp426=) c.1058-10864T>C (n.1058-10864T>C) c.2129+1097T>C c.3087T>C (p.Asp1029=) c.3579T>C (p.Asp1193=) c.3546T>C (p.Asp1182=) | |
| 13 | g.23340348A>T | CA387534767 | SACS | c.2185+13437T>A (n.2185+13437T>A) c.3555T>A (p.Asp1185Glu) c.3519T>A (p.Asp1173Glu) c.2177-10864T>A (n.2177-10864T>A) c.2291+1237T>A (n.2291+1237T>A) c.2318+1237T>A (n.2318+1237T>A) c.2203+6463T>A (n.2203+6463T>A) n.4543-10864T>A c.2220+6463T>A (n.2220+6463T>A) c.3528T>A (p.Asp1176Glu) c.2186-10864T>A (n.2186-10864T>A) c.2431+1097T>A (n.2431+1097T>A) c.1278T>A (p.Asp426Glu) c.1058-10864T>A (n.1058-10864T>A) c.2129+1097T>A c.3087T>A (p.Asp1029Glu) c.3579T>A (p.Asp1193Glu) c.3546T>A (p.Asp1182Glu) | gnomAD v4 |
| 13 | g.23340348_23340353del | CA912980152 | SACS | c.2185+13432_2185+13437del (n.2185+13432_2185+13437del) c.3550_3555del (p.Gly1184_Asp1185del) c.3514_3519del (p.Gly1172_Asp1173del) c.2177-10869_2177-10864del (n.2177-10869_2177-10864del) c.2291+1232_2291+1237del (n.2291+1232_2291+1237del) c.2318+1232_2318+1237del (n.2318+1232_2318+1237del) c.2203+6458_2203+6463del (n.2203+6458_2203+6463del) n.4543-10869_4543-10864del c.2220+6458_2220+6463del (n.2220+6458_2220+6463del) c.3523_3528del (p.Gly1175_Asp1176del) c.2186-10869_2186-10864del (n.2186-10869_2186-10864del) c.2431+1092_2431+1097del (n.2431+1092_2431+1097del) c.1273_1278del (p.Gly425_Asp426del) c.1058-10869_1058-10864del (n.1058-10869_1058-10864del) c.2129+1092_2129+1097del c.3082_3087del (p.Gly1028_Asp1029del) c.3574_3579del (p.Gly1192_Asp1193del) c.3541_3546del (p.Gly1181_Asp1182del) | |
| 13 | g.23340348_23340353delinsATCTCC | CA2078642262 | SACS | c.2185+13432_2185+13437delinsGGAGAT (n.2185+13432_2185+13437delinsGGAGAT) c.3550_3555delinsGGAGAT (p.Gly1184=) c.3514_3519delinsGGAGAT (p.Gly1172=) c.2177-10869_2177-10864delinsGGAGAT (n.2177-10869_2177-10864delinsGGAGAT) c.2291+1232_2291+1237delinsGGAGAT (n.2291+1232_2291+1237delinsGGAGAT) c.2318+1232_2318+1237delinsGGAGAT (n.2318+1232_2318+1237delinsGGAGAT) c.2203+6458_2203+6463delinsGGAGAT (n.2203+6458_2203+6463delinsGGAGAT) n.4543-10869_4543-10864delinsGGAGAT c.2220+6458_2220+6463delinsGGAGAT (n.2220+6458_2220+6463delinsGGAGAT) c.3523_3528delinsGGAGAT (p.Gly1175=) c.2186-10869_2186-10864delinsGGAGAT (n.2186-10869_2186-10864delinsGGAGAT) c.2431+1092_2431+1097delinsGGAGAT (n.2431+1092_2431+1097delinsGGAGAT) c.1273_1278delinsGGAGAT (p.Gly425=) c.1058-10869_1058-10864delinsGGAGAT (n.1058-10869_1058-10864delinsGGAGAT) c.2129+1092_2129+1097delinsGGAGAT c.3082_3087delinsGGAGAT (p.Gly1028=) c.3574_3579delinsGGAGAT (p.Gly1192=) c.3541_3546delinsGGAGAT (p.Gly1181=) | |
| 13 | g.23340349T>A | CA387534769 | SACS | c.2185+13436A>T (n.2185+13436A>T) c.3554A>T (p.Asp1185Val) c.3518A>T (p.Asp1173Val) c.2177-10865A>T (n.2177-10865A>T) c.2291+1236A>T (n.2291+1236A>T) c.2318+1236A>T (n.2318+1236A>T) c.2203+6462A>T (n.2203+6462A>T) n.4543-10865A>T c.2220+6462A>T (n.2220+6462A>T) c.3527A>T (p.Asp1176Val) c.2186-10865A>T (n.2186-10865A>T) c.2431+1096A>T (n.2431+1096A>T) c.1277A>T (p.Asp426Val) c.1058-10865A>T (n.1058-10865A>T) c.2129+1096A>T c.3086A>T (p.Asp1029Val) c.3578A>T (p.Asp1193Val) c.3545A>T (p.Asp1182Val) | |
| 13 | g.23340349T>C | CA387534771 | SACS | c.2185+13436A>G (n.2185+13436A>G) c.3554A>G (p.Asp1185Gly) c.3518A>G (p.Asp1173Gly) c.2177-10865A>G (n.2177-10865A>G) c.2291+1236A>G (n.2291+1236A>G) c.2318+1236A>G (n.2318+1236A>G) c.2203+6462A>G (n.2203+6462A>G) n.4543-10865A>G c.2220+6462A>G (n.2220+6462A>G) c.3527A>G (p.Asp1176Gly) c.2186-10865A>G (n.2186-10865A>G) c.2431+1096A>G (n.2431+1096A>G) c.1277A>G (p.Asp426Gly) c.1058-10865A>G (n.1058-10865A>G) c.2129+1096A>G c.3086A>G (p.Asp1029Gly) c.3578A>G (p.Asp1193Gly) c.3545A>G (p.Asp1182Gly) | |
| 13 | g.23340349T>G | CA387534773 | SACS | c.2185+13436A>C (n.2185+13436A>C) c.3554A>C (p.Asp1185Ala) c.3518A>C (p.Asp1173Ala) c.2177-10865A>C (n.2177-10865A>C) c.2291+1236A>C (n.2291+1236A>C) c.2318+1236A>C (n.2318+1236A>C) c.2203+6462A>C (n.2203+6462A>C) n.4543-10865A>C c.2220+6462A>C (n.2220+6462A>C) c.3527A>C (p.Asp1176Ala) c.2186-10865A>C (n.2186-10865A>C) c.2431+1096A>C (n.2431+1096A>C) c.1277A>C (p.Asp426Ala) c.1058-10865A>C (n.1058-10865A>C) c.2129+1096A>C c.3086A>C (p.Asp1029Ala) c.3578A>C (p.Asp1193Ala) c.3545A>C (p.Asp1182Ala) | |
| 13 | g.23340350_23340354del | CA658823479 | SACS | c.2185+13432_2185+13436del (n.2185+13432_2185+13436del) c.3550_3554del (p.Gly1184SerfsTer3) c.3514_3518del (p.Gly1172SerfsTer3) c.2177-10869_2177-10865del (n.2177-10869_2177-10865del) c.2291+1232_2291+1236del (n.2291+1232_2291+1236del) c.2318+1232_2318+1236del (n.2318+1232_2318+1236del) c.2203+6458_2203+6462del (n.2203+6458_2203+6462del) n.4543-10869_4543-10865del c.2220+6458_2220+6462del (n.2220+6458_2220+6462del) c.3523_3527del (p.Gly1175SerfsTer3) c.2186-10869_2186-10865del (n.2186-10869_2186-10865del) c.2431+1092_2431+1096del (n.2431+1092_2431+1096del) c.1273_1277del (p.Gly425SerfsTer3) c.1058-10869_1058-10865del (n.1058-10869_1058-10865del) c.2129+1092_2129+1096del c.3082_3086del (p.Gly1028SerfsTer3) c.3574_3578del (p.Gly1192SerfsTer3) c.3541_3545del (p.Gly1181SerfsTer3) | ClinVar dbSNP |
| 13 | g.23340350C>A | CA387534776 | SACS | c.2185+13435G>T (n.2185+13435G>T) c.3553G>T (p.Asp1185Tyr) c.3517G>T (p.Asp1173Tyr) c.2177-10866G>T (n.2177-10866G>T) c.2291+1235G>T (n.2291+1235G>T) c.2318+1235G>T (n.2318+1235G>T) c.2203+6461G>T (n.2203+6461G>T) n.4543-10866G>T c.2220+6461G>T (n.2220+6461G>T) c.3526G>T (p.Asp1176Tyr) c.2186-10866G>T (n.2186-10866G>T) c.2431+1095G>T (n.2431+1095G>T) c.1276G>T (p.Asp426Tyr) c.1058-10866G>T (n.1058-10866G>T) c.2129+1095G>T c.3085G>T (p.Asp1029Tyr) c.3577G>T (p.Asp1193Tyr) c.3544G>T (p.Asp1182Tyr) | dbSNP |
| 13 | g.23340350C= | CA2078642272 | SACS | c.2185+13435G= (n.2185+13435G=) c.3553G= (p.Asp1185=) c.3517G= (p.Asp1173=) c.2177-10866G= (n.2177-10866G=) c.2291+1235G= (n.2291+1235G=) c.2318+1235G= (n.2318+1235G=) c.2203+6461G= (n.2203+6461G=) n.4543-10866G= c.2220+6461G= (n.2220+6461G=) c.3526G= (p.Asp1176=) c.2186-10866G= (n.2186-10866G=) c.2431+1095G= (n.2431+1095G=) c.1276G= (p.Asp426=) c.1058-10866G= (n.1058-10866G=) c.2129+1095G= c.3085G= (p.Asp1029=) c.3577G= (p.Asp1193=) c.3544G= (p.Asp1182=) | |
| 13 | g.23340350C>G | CA387534778 | SACS | c.2185+13435G>C (n.2185+13435G>C) c.3553G>C (p.Asp1185His) c.3517G>C (p.Asp1173His) c.2177-10866G>C (n.2177-10866G>C) c.2291+1235G>C (n.2291+1235G>C) c.2318+1235G>C (n.2318+1235G>C) c.2203+6461G>C (n.2203+6461G>C) n.4543-10866G>C c.2220+6461G>C (n.2220+6461G>C) c.3526G>C (p.Asp1176His) c.2186-10866G>C (n.2186-10866G>C) c.2431+1095G>C (n.2431+1095G>C) c.1276G>C (p.Asp426His) c.1058-10866G>C (n.1058-10866G>C) c.2129+1095G>C c.3085G>C (p.Asp1029His) c.3577G>C (p.Asp1193His) c.3544G>C (p.Asp1182His) | |
| 13 | g.23340350C>T | CA387534779 | SACS | c.2185+13435G>A (n.2185+13435G>A) c.3553G>A (p.Asp1185Asn) c.3517G>A (p.Asp1173Asn) c.2177-10866G>A (n.2177-10866G>A) c.2291+1235G>A (n.2291+1235G>A) c.2318+1235G>A (n.2318+1235G>A) c.2203+6461G>A (n.2203+6461G>A) n.4543-10866G>A c.2220+6461G>A (n.2220+6461G>A) c.3526G>A (p.Asp1176Asn) c.2186-10866G>A (n.2186-10866G>A) c.2431+1095G>A (n.2431+1095G>A) c.1276G>A (p.Asp426Asn) c.1058-10866G>A (n.1058-10866G>A) c.2129+1095G>A c.3085G>A (p.Asp1029Asn) c.3577G>A (p.Asp1193Asn) c.3544G>A (p.Asp1182Asn) |