12-103232766-C-T |
c.*187G>A |
- |
3-UTRSNV |
13/13 |
- |
3 |
12-103232955-TA-T |
c.1357del |
p.*453Lysfs*32 |
CdsStopDeletion |
13/13 |
- |
1 |
12-103232967-G-A |
c.1345C>T |
p.Gln449* |
Nonsense |
13/13 |
- |
1 |
12-103232968-G-A |
c.1344C>T |
p.Leu448Leu |
Synonymous |
13/13 |
- |
1 |
12-103232968-G-C |
c.1344C>G |
p.Leu448Leu |
Synonymous |
13/13 |
- |
1 |
12-103232968-G-T |
c.1344C>A |
p.Leu448Leu |
Synonymous |
13/13 |
- |
1 |
12-103232969-A-T |
c.1343T>A |
p.Leu448His |
Missense |
13/13 |
- |
1 |
12-103232972-G-T |
c.1340C>A |
p.Ala447Asp |
Missense |
13/13 |
- |
1 |
12-103232973-C-G |
c.1339G>C |
p.Ala447Pro |
Missense |
13/13 |
- |
1 |
12-103232974-ACT-TGA |
c.1336_1338delinsTCA |
p.Ser446Ser |
Nonsense |
13/13 |
- |
1 |
12-103232981-A-G |
c.1331T>C |
p.Leu444Pro |
Missense |
13/13 |
- |
3 |
12-103232982-G-A |
c.1330C>T |
p.Leu444Phe |
Missense |
13/13 |
- |
1 |
12-103232990-A-G |
c.1322T>C |
p.Ile441Thr |
Missense |
13/13 |
- |
1 |
12-103232991-T-C |
c.1321A>G |
p.Ile441Val |
Missense |
13/13 |
- |
1 |
12-103232994-C-A |
c.1318G>T |
p.Glu440* |
Nonsense |
13/13 |
- |
1 |
12-103232996-C-T |
c.1316G>A |
p.Ser439Asn |
Missense |
13/13 |
- |
2 |
12-103232997-C-T |
c.1316-1G>A |
- |
IntronicSNV |
- |
12/12 |
2 |
12-103232998-T-G |
c.1316-2A>C |
- |
IntronicSNV |
- |
12/12 |
3 |
12-103233031-G-A |
c.1316-35C>T |
- |
IntronicSNV |
- |
12/12 |
3 |
12-103233119-C-T |
c.1316-123G>A |
- |
IntronicSNV |
- |
12/12 |
1 |
12-103234172-A-T |
c.1315+6T>A |
- |
IntronicSNV |
- |
12/12 |
6 |
12-103234173-C-T |
c.1315+5G>A |
- |
IntronicSNV |
- |
12/12 |
1 |
12-103234174-T-C |
c.1315+4A>G |
- |
IntronicSNV |
- |
12/12 |
2 |
12-103234176-A-G |
c.1315+2T>C |
- |
IntronicSNV |
- |
12/12 |
2 |
12-103234177-C-A |
c.1315+1G>T |
- |
IntronicSNV |
- |
12/12 |
2 |
12-103234177-C-T |
c.1315+1G>A |
- |
IntronicSNV |
- |
12/12 |
29 |
12-103234188-AA-A |
c.1306del |
p.Ser436Profs*16 |
Frameshift |
12/13 |
- |
1 |
12-103234189-T-A |
c.1304A>T |
p.Asp435Val |
Missense |
12/13 |
- |
1 |
12-103234192-G-T |
c.1301C>A |
p.Ala434Asp |
Missense |
12/13 |
- |
13 |
12-103234194-C-T |
c.1299G>A |
p.Leu433Leu |
Synonymous |
12/13 |
- |
1 |
12-103234196-A-G |
c.1297T>C |
p.Leu433Leu |
Synonymous |
12/13 |
- |
1 |
12-103234204-A-G |
c.1289T>C |
p.Leu430Pro |
Missense |
12/13 |
- |
5 |
12-103234208-G-T |
c.1285C>A |
p.Gln429Lys |
Missense |
12/13 |
- |
2 |
12-103234213-GG-G |
c.1282del |
p.Gln428Serfs*24 |
Frameshift |
12/13 |
- |
1 |
12-103234215-A-G |
c.1278T>C |
p.Asn426Asn |
Synonymous |
12/13 |
- |
6 |
12-103234222-A-G |
c.1271T>C |
p.Leu424Ser |
Missense |
12/13 |
- |
2 |
12-103234221-C-T |
c.1272G>A |
p.Leu424Leu |
Synonymous |
12/13 |
- |
1 |
12-103234223-A-G |
c.1270T>C |
p.Leu424Leu |
Synonymous |
12/13 |
- |
1 |
12-103234224-AG-A |
c.1269del |
p.Leu424Trpfs*28 |
Frameshift |
12/13 |
- |
1 |
12-103234225-A-G |
c.1268T>C |
p.Val423Ala |
Missense |
12/13 |
- |
1 |
12-103234226-C-T |
c.1267G>A |
p.Val423Ile |
Missense |
12/13 |
- |
1 |
12-103234229-C-T |
c.1264G>A |
p.Glu422Lys |
Missense |
12/13 |
- |
2 |
12-103234231-A-G |
c.1262T>C |
p.Ile421Thr |
Missense |
12/13 |
- |
5 |
12-103234234-C-A |
c.1259G>T |
p.Arg420Met |
Missense |
12/13 |
- |
1 |
12-103234234-C-G |
c.1259G>C |
p.Arg420Thr |
Missense |
12/13 |
- |
1 |
12-103234237-T-C |
c.1256A>G |
p.Gln419Arg |
Missense |
12/13 |
- |
9 |
12-103234237-T-G |
c.1256A>C |
p.Gln419Pro |
Missense |
12/13 |
- |
1 |
12-103234239-G-A |
c.1254C>T |
p.Thr418Thr |
Synonymous |
12/13 |
- |
1 |
12-103234239-G-T |
c.1254C>A |
p.Thr418Thr |
Synonymous |
12/13 |
- |
1 |
12-103234241-T-G |
c.1252A>C |
p.Thr418Pro |
Missense |
12/13 |
- |
7 |
12-103234243-T-C |
c.1250A>G |
p.Tyr417Cys |
Missense |
12/13 |
- |
1 |
12-103234244-A-G |
c.1249T>C |
p.Tyr417His |
Missense |
12/13 |
- |
2 |
12-103234244-A-T |
c.1249T>A |
p.Tyr417Asn |
Missense |
12/13 |
- |
2 |
12-103234246-G-T |
c.1247C>A |
p.Pro416Gln |
Missense |
12/13 |
- |
3 |
12-103234248-G-A |
c.1245C>T |
p.Asp415Asp |
Synonymous |
12/13 |
- |
1 |
12-103234250-C-A |
c.1243G>T |
p.Asp415Tyr |
Missense |
12/13 |
- |
4 |
12-103234250-C-T |
c.1243G>A |
p.Asp415Asn |
Missense |
12/13 |
- |
17 |
12-103234251-G-A |
c.1242C>T |
p.Tyr414Tyr |
Synonymous |
12/13 |
- |
8 |
12-103234251-G-T |
c.1242C>A |
p.Tyr414* |
Nonsense |
12/13 |
- |
5 |
12-103234252-T-C |
c.1241A>G |
p.Tyr414Cys |
Missense |
12/13 |
- |
38 |
12-103234254-G-A |
c.1239C>T |
p.Arg413Arg |
Synonymous |
12/13 |
- |
1 |
12-103234254-G-C |
c.1239C>G |
p.Arg413Arg |
Synonymous |
12/13 |
- |
1 |
12-103234254-G-T |
c.1239C>A |
p.Arg413Arg |
Synonymous |
12/13 |
- |
1 |
12-103234255-C-G |
c.1238G>C |
p.Arg413Pro |
Missense |
12/13 |
- |
32 |
12-103234255-C-T |
c.1238G>A |
p.Arg413His |
Missense |
12/13 |
- |
3 |
12-103234256-G-A |
c.1237C>T |
p.Arg413Cys |
Missense |
12/13 |
- |
1 |
12-103234256-G-T |
c.1237C>A |
p.Arg413Ser |
Missense |
12/13 |
- |
1 |
12-103234261-G-C |
c.1232C>G |
p.Ser411* |
Nonsense |
12/13 |
- |
2 |
12-103234261-G-T |
c.1232C>A |
p.Ser411* |
Nonsense |
12/13 |
- |
2 |
12-103234264-A-C |
c.1229T>G |
p.Phe410Cys |
Missense |
12/13 |
- |
1 |
12-103234264-A-G |
c.1229T>C |
p.Phe410Ser |
Missense |
12/13 |
- |
2 |
12-103234269-CC-AT |
c.1223_1224delinsAT |
p.Arg408His |
Missense |
12/13 |
- |
1 |
12-103234269-CCG-TGT |
c.1222_1224delinsACA |
p.Arg408Thr |
Missense |
12/13 |
- |
1 |
12-103234270-C-A |
c.1223G>T |
p.Arg408Leu |
Missense |
12/13 |
- |
1 |
12-103234270-C-G |
c.1223G>C |
p.Arg408Pro |
Missense |
12/13 |
- |
1 |
12-103234270-C-T |
c.1223G>A |
p.Arg408Gln |
Missense |
12/13 |
- |
29 |
12-103234271-CG-C |
c.1222del |
p.Arg408Glyfs*44 |
Frameshift |
12/13 |
- |
1 |
12-103234271-G-A |
c.1222C>T |
p.Arg408Trp |
Missense |
12/13 |
- |
85 |
12-103234271-G-C |
c.1222C>G |
p.Arg408Gly |
Missense |
12/13 |
- |
1 |
12-103234272-A-C |
c.1221T>G |
p.Pro407Pro |
Synonymous |
12/13 |
- |
1 |
12-103234273-G-A |
c.1220C>T |
p.Pro407Leu |
Missense |
12/13 |
- |
2 |
12-103234274-G-A |
c.1219C>T |
p.Pro407Ser |
Missense |
12/13 |
- |
2 |
12-103234274-GG-G |
c.1220del |
p.Pro407Leufs*45 |
Frameshift |
12/13 |
- |
1 |
12-103234275-T-C |
c.1218A>G |
p.Ile406Met |
Missense |
12/13 |
- |
3 |
12-103234276-A-C |
c.1217T>G |
p.Ile406Arg |
Missense |
12/13 |
- |
1 |
12-103234276-A-G |
c.1217T>C |
p.Ile406Thr |
Missense |
12/13 |
- |
2 |
12-103234276-TATTGT-T |
c.1215_1219del |
p.Ile406Serfs*15 |
Frameshift |
12/13 |
- |
3 |
12-103234277-T-C |
c.1216A>G |
p.Ile406Val |
Missense |
12/13 |
- |
3 |
12-103234278-T-G |
c.1215A>C |
p.Thr405Thr |
Synonymous |
12/13 |
- |
1 |
12-103234284-AGC-ATG |
c.1207_1208delinsCA |
p.Ala403His |
Missense |
12/13 |
- |
1 |
12-103234285-G-A |
c.1208C>T |
p.Ala403Val |
Missense |
12/13 |
- |
32 |
12-103234287-A-C |
c.1206T>G |
p.Phe402Leu |
Missense |
12/13 |
- |
1 |
12-103234287-A-T |
c.1206T>A |
p.Phe402Leu |
Missense |
12/13 |
- |
1 |
12-103234289-A-G |
c.1204T>C |
p.Phe402Leu |
Missense |
12/13 |
- |
1 |
12-103234290-AG-A |
c.1203del |
p.Phe402Leufs*50 |
Frameshift |
12/13 |
- |
1 |
12-103234293-C-A |
c.1200G>T |
p.Arg400Ser |
Missense |
12/13 |
- |
1 |
12-103234293-C-G |
c.1200G>C |
p.Arg400Ser |
Missense |
12/13 |
- |
1 |
12-103237425-T-G |
c.1198A>C |
p.Arg400Arg |
Synonymous |
11/13 |
- |
1 |
12-103234294-C-G |
c.1200-1G>C |
- |
IntronicSNV |
- |
11/12 |
3 |
12-103234294-C-T |
c.1200-1G>A |
- |
IntronicSNV |
- |
11/12 |
2 |
12-103234295-T-G |
c.1200-2A>C |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103234296-A-C |
c.1200-3T>G |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103234301-C-T |
c.1200-8G>A |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103234544-G-A |
c.1200-251C>T |
- |
IntronicSNV |
- |
11/12 |
2 |
12-103237160-C-T |
c.1199+264G>A |
- |
IntronicSNV |
- |
11/12 |
2 |
12-103237400-TGGCTC-T |
c.1199+20_1199+24del |
- |
IntronicDeletion |
- |
11/12 |
1 |
12-103237402-GCTCACC-G |
c.1199+17_1199+22del |
- |
IntronicDeletion |
- |
11/12 |
1 |
12-103237404-C-G |
c.1199+20G>C |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103237404-TC-T |
c.1199+20del |
- |
IntronicDeletion |
- |
11/12 |
1 |
12-103237405-CACCTTTG-C |
c.1199+13_1199+19del |
- |
IntronicDeletion |
- |
11/12 |
1 |
12-103237406-C-G |
c.1199+18G>C |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103237407-CC-C |
c.1199+18del |
- |
IntronicDeletion |
- |
11/12 |
1 |
12-103237407-C-G |
c.1199+17G>C |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103237407-C-T |
c.1199+17G>A |
- |
IntronicSNV |
- |
11/12 |
4 |
12-103237409-T-G |
c.1199+15A>C |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103237411-TG-T |
c.1199+13del |
- |
IntronicDeletion |
- |
11/12 |
1 |
12-103237421-C-T |
c.1199+3G>A |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103237422-A-G |
c.1199+2T>C |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103237423-C-G |
c.1199+1G>C |
- |
IntronicSNV |
- |
11/12 |
9 |
12-103237423-C-T |
c.1199+1G>A |
- |
IntronicSNV |
- |
11/12 |
1 |
12-103237424-C-G |
c.1199G>C |
p.Arg400Thr |
Missense |
11/13 |
- |
6 |
12-103237424-C-T |
c.1199G>A |
p.Arg400Lys |
Missense |
11/13 |
- |
9 |
12-103237426-T-A |
c.1197A>T |
p.Val399Val |
Synonymous |
11/13 |
- |
21 |
12-103237426-TT-T |
c.1198del |
p.Arg400Glyfs*52 |
Frameshift |
11/13 |
- |
1 |
12-103237427-AC-TA |
c.1195_1196delinsTA |
p.Val399* |
Nonsense |
11/13 |
- |
1 |
12-103237427-A-G |
c.1196T>C |
p.Val399Ala |
Missense |
11/13 |
- |
1 |
12-103237427-TACTT-T |
c.1196_1199del |
p.Val399Glyfs*52 |
SpliceDonorDeletion |
11/13 |
- |
1 |
12-103237429-T-C |
c.1194A>G |
p.Lys398Lys |
Synonymous |
11/13 |
- |
2 |
12-103237437-T-C |
c.1186A>G |
p.Lys396Glu |
Missense |
11/13 |
- |
1 |
12-103237438-G-C |
c.1185C>G |
p.Ala395Ala |
Synonymous |
11/13 |
- |
1 |
12-103237439-G-C |
c.1184C>G |
p.Ala395Gly |
Missense |
11/13 |
- |
4 |
12-103237439-G-T |
c.1184C>A |
p.Ala395Asp |
Missense |
11/13 |
- |
2 |
12-103237440-C-G |
c.1183G>C |
p.Ala395Pro |
Missense |
11/13 |
- |
4 |
12-103237443-C-A |
c.1180G>T |
p.Asp394Tyr |
Missense |
11/13 |
- |
1 |
12-103237443-C-G |
c.1180G>C |
p.Asp394His |
Missense |
11/13 |
- |
2 |
12-103237445-T-C |
c.1178A>G |
p.Asn393Ser |
Missense |
11/13 |
- |
1 |
12-103237445-T-TA |
c.1177_1178insT |
p.Asn393Ilefs*2 |
Frameshift |
11/13 |
- |
1 |
12-103237446-T-G |
c.1177A>C |
p.Asn393His |
Missense |
11/13 |
- |
1 |
12-103237447-A-C |
c.1176T>G |
p.Phe392Leu |
Missense |
11/13 |
- |
1 |
12-103237447-A-T |
c.1176T>A |
p.Phe392Leu |
Missense |
11/13 |
- |
1 |
12-103237449-A-G |
c.1174T>C |
p.Phe392Leu |
Missense |
11/13 |
- |
1 |
12-103237449-A-T |
c.1174T>A |
p.Phe392Ile |
Missense |
11/13 |
- |
7 |
12-103237451-C-A |
c.1172G>T |
p.Ser391Ile |
Missense |
11/13 |
- |
2 |
12-103237451-C-G |
c.1172G>C |
p.Ser391Thr |
Missense |
11/13 |
- |
1 |
12-103237452-T-C |
c.1171A>G |
p.Ser391Gly |
Missense |
11/13 |
- |
1 |
12-103237454-T-C |
c.1169A>G |
p.Glu390Gly |
Missense |
11/13 |
- |
26 |
12-103237455-TCT-T |
c.1171_1172del |
p.Ser391Phefs*2 |
Frameshift |
11/13 |
- |
1 |
12-103237457-TG-T |
c.1166del |
p.Ala389Glufs*11 |
Frameshift |
11/13 |
- |
1 |
12-103237460-A-G |
c.1163T>C |
p.Val388Ala |
Missense |
11/13 |
- |
1 |
12-103237460-CAC-C |
c.1163_1164del |
p.Val388Glyfs*5 |
Frameshift |
11/13 |
- |
1 |
12-103237461-C-G |
c.1162G>C |
p.Val388Leu |
Missense |
11/13 |
- |
3 |
12-103237461-C-T |
c.1162G>A |
p.Val388Met |
Missense |
11/13 |
- |
24 |
12-103237462-G-A |
c.1161C>T |
p.Tyr387Tyr |
Synonymous |
11/13 |
- |
2 |
12-103237462-G-T |
c.1161C>A |
p.Tyr387* |
Nonsense |
11/13 |
- |
1 |
12-103237464-A-C |
c.1159T>G |
p.Tyr387Asp |
Missense |
11/13 |
- |
2 |
12-103237464-A-G |
c.1159T>C |
p.Tyr387His |
Missense |
11/13 |
- |
2 |
12-103237466-T-C |
c.1157A>G |
p.Tyr386Cys |
Missense |
11/13 |
- |
6 |
12-103237467-A-C |
c.1156T>G |
p.Tyr386Asp |
Missense |
11/13 |
- |
1 |
12-103237468-G-A |
c.1155C>T |
p.Leu385Leu |
Synonymous |
11/13 |
- |
7 |
12-103237468-GAG-ATG |
c.1154_1155delinsAT |
p.Leu385His |
Missense |
11/13 |
- |
1 |
12-103237468-G-C |
c.1155C>G |
p.Leu385Leu |
Synonymous |
11/13 |
- |
9 |
12-103237468-G-T |
c.1155C>A |
p.Leu385Leu |
Synonymous |
11/13 |
- |
8 |
12-103237469-A-G |
c.1154T>C |
p.Leu385Pro |
Missense |
11/13 |
- |
1 |
12-103237476-G-A |
c.1147C>T |
p.Gln383* |
Nonsense |
11/13 |
- |
1 |
12-103237477-G-A |
c.1146C>T |
p.Phe382Phe |
Synonymous |
11/13 |
- |
1 |
12-103237479-A-T |
c.1144T>A |
p.Phe382Ile |
Missense |
11/13 |
- |
1 |
12-103237482-C-A |
c.1141G>T |
p.Glu381* |
Nonsense |
11/13 |
- |
1 |
12-103237483-C-A |
c.1140G>T |
p.Thr380Thr |
Synonymous |
11/13 |
- |
2 |
12-103237483-C-T |
c.1140G>A |
p.Thr380Thr |
Synonymous |
11/13 |
- |
2 |
12-103237484-G-A |
c.1139C>T |
p.Thr380Met |
Missense |
11/13 |
- |
17 |
12-103237487-A-G |
c.1136T>C |
p.Val379Ala |
Missense |
11/13 |
- |
1 |
12-103237488-AC-A |
c.1135del |
p.Val379Serfs*21 |
Frameshift |
11/13 |
- |
1 |
12-103237488-C-A |
c.1135G>T |
p.Val379Phe |
Missense |
11/13 |
- |
1 |
12-103237491-T-A |
c.1132A>T |
p.Thr378Ser |
Missense |
11/13 |
- |
1 |
12-103237493-T-A |
c.1130A>T |
p.Tyr377Phe |
Missense |
11/13 |
- |
1 |
12-103237493-T-C |
c.1130A>G |
p.Tyr377Cys |
Missense |
11/13 |
- |
1 |
12-103237495-AA-A |
c.1129del |
p.Tyr377Thrfs*23 |
Frameshift |
11/13 |
- |
1 |
12-103237498-T-G |
c.1125A>C |
p.Gln375His |
Missense |
11/13 |
- |
1 |
12-103237499-TT-T |
c.1127del |
p.Asn376Ilefs*24 |
Frameshift |
11/13 |
- |
1 |
12-103237500-G-C |
c.1123C>G |
p.Gln375Glu |
Missense |
11/13 |
- |
6 |
12-103237505-GGC-G |
c.1117_1118del |
p.Ala373Hisfs*20 |
Frameshift |
11/13 |
- |
1 |
12-103237505-G-T |
c.1118C>A |
p.Ala373Asp |
Missense |
11/13 |
- |
1 |
12-103237506-C-G |
c.1117G>C |
p.Ala373Pro |
Missense |
11/13 |
- |
1 |
12-103237506-C-T |
c.1117G>A |
p.Ala373Thr |
Missense |
11/13 |
- |
5 |
12-103237508-G-C |
c.1115C>G |
p.Thr372Arg |
Missense |
11/13 |
- |
3 |
12-103237509-T-A |
c.1114A>T |
p.Thr372Ser |
Missense |
11/13 |
- |
5 |
12-103237511-T-C |
c.1112A>G |
p.Lys371Arg |
Missense |
11/13 |
- |
1 |
12-103237512-T-C |
c.1111A>G |
p.Lys371Glu |
Missense |
11/13 |
- |
1 |
12-103237514-T-C |
c.1109A>G |
p.Glu370Gly |
Missense |
11/13 |
- |
1 |
12-103237518-G-A |
c.1105C>T |
p.Leu369Leu |
Synonymous |
11/13 |
- |
2 |
12-103237521-C-CA |
c.1101_1102insT |
p.Glu368* |
Nonsense |
11/13 |
- |
1 |
12-103237521-C-T |
c.1102G>A |
p.Glu368Lys |
Missense |
11/13 |
- |
1 |
12-103237523-A-C |
c.1100T>G |
p.Leu367Arg |
Missense |
11/13 |
- |
1 |
12-103237523-A-G |
c.1100T>C |
p.Leu367Pro |
Missense |
11/13 |
- |
1 |
12-103237524-G-C |
c.1099C>G |
p.Leu367Val |
Missense |
11/13 |
- |
2 |
12-103237526-G-T |
c.1097C>A |
p.Pro366His |
Missense |
11/13 |
- |
4 |
12-103237527-G-C |
c.1096C>G |
p.Pro366Ala |
Missense |
11/13 |
- |
1 |
12-103237528-G-GG |
c.1099dup |
p.Leu367Profs*27 |
Frameshift |
11/13 |
- |
1 |
12-103237528-GG-G |
c.1099del |
p.Leu367Trpfs*33 |
Frameshift |
11/13 |
- |
1 |
12-103237531-GAAG-G |
c.1092_1094del |
p.Leu365del |
InFrameDeletion |
11/13 |
- |
1 |
12-103237534-C-A |
c.1089G>T |
p.Lys363Asn |
Missense |
11/13 |
- |
2 |
12-103237534-GC-G |
c.1089del |
p.Lys363Asnfs*37 |
Frameshift |
11/13 |
- |
7 |
12-103237536-TTT-T |
c.1087_1088del |
p.Lys363Alafs*30 |
Frameshift |
11/13 |
- |
1 |
12-103237538-G-A |
c.1085C>T |
p.Pro362Leu |
Missense |
11/13 |
- |
2 |
12-103237539-G-A |
c.1084C>T |
p.Pro362Ser |
Missense |
11/13 |
- |
2 |
12-103237539-G-T |
c.1084C>A |
p.Pro362Thr |
Missense |
11/13 |
- |
4 |
12-103237545-C-A |
c.1078G>T |
p.Glu360* |
Nonsense |
11/13 |
- |
1 |
12-103237547-G-A |
c.1076C>T |
p.Ser359Leu |
Missense |
11/13 |
- |
2 |
12-103237547-G-C |
c.1076C>G |
p.Ser359* |
Nonsense |
11/13 |
- |
2 |
12-103237548-A-C |
c.1075T>G |
p.Ser359Ala |
Missense |
11/13 |
- |
3 |
12-103237549-T-A |
c.1074A>T |
p.Leu358Phe |
Missense |
11/13 |
- |
1 |
12-103237549-T-G |
c.1074A>C |
p.Leu358Phe |
Missense |
11/13 |
- |
1 |
12-103237552-G-T |
c.1071C>A |
p.Cys357* |
Nonsense |
11/13 |
- |
4 |
12-103237553-C-T |
c.1070G>A |
p.Cys357Tyr |
Missense |
11/13 |
- |
2 |
12-103237554-A-C |
c.1069T>G |
p.Cys357Gly |
Missense |
11/13 |
- |
1 |
12-103237554-A-G |
c.1069T>C |
p.Cys357Arg |
Missense |
11/13 |
- |
1 |
12-103237555-G-A |
c.1068C>T |
p.Tyr356Tyr |
Synonymous |
11/13 |
- |
1 |
12-103237555-G-C |
c.1068C>G |
p.Tyr356* |
Nonsense |
11/13 |
- |
23 |
12-103237555-G-T |
c.1068C>A |
p.Tyr356* |
Nonsense |
11/13 |
- |
29 |
12-103237557-A-C |
c.1066T>G |
p.Tyr356Asp |
Missense |
11/13 |
- |
1 |
12-103237557-A-G |
c.1066T>C |
p.Tyr356His |
Missense |
11/13 |
- |
2 |
12-103237557-A-T |
c.1066T>A |
p.Tyr356Asn |
Missense |
11/13 |
- |
1 |
12-103237558-C-A |
c.1066-1G>T |
- |
IntronicSNV |
- |
10/12 |
2 |
12-103237558-C-G |
c.1066-1G>C |
- |
IntronicSNV |
- |
10/12 |
2 |
12-103237558-C-T |
c.1066-1G>A |
- |
IntronicSNV |
- |
10/12 |
2 |
12-103237559-T-A |
c.1066-2A>T |
- |
IntronicSNV |
- |
10/12 |
1 |
12-103237560-G-A |
c.1066-3C>T |
- |
IntronicSNV |
- |
10/12 |
10 |
12-103237564-G-T |
c.1066-7C>A |
- |
IntronicSNV |
- |
10/12 |
1 |
12-103237568-C-T |
c.1066-11G>A |
- |
IntronicSNV |
- |
10/12 |
39 |
12-103237570-AA-A |
c.1066-12del |
- |
IntronicDeletion |
- |
10/12 |
3 |
12-103237570-A-C |
c.1066-13T>G |
- |
IntronicSNV |
- |
10/12 |
1 |
12-103237571-G-C |
c.1066-14C>G |
- |
IntronicSNV |
- |
10/12 |
1 |
12-103237572-T-G |
c.1066-15A>C |
- |
IntronicSNV |
- |
10/12 |
1 |
12-103238017-C-T |
c.1065+97G>A |
- |
IntronicSNV |
- |
10/12 |
3 |
12-103238107-G-T |
c.1065+7C>A |
- |
IntronicSNV |
- |
10/12 |
1 |
12-103238113-C-A |
c.1065+1G>T |
- |
IntronicSNV |
- |
10/12 |
1 |
12-103238113-C-T |
c.1065+1G>A |
- |
IntronicSNV |
- |
10/12 |
2 |
12-103238116-G-A |
c.1063C>T |
p.Gln355* |
Nonsense |
10/13 |
- |
2 |
12-103238119-AA-A |
c.1061del |
p.Leu354Tyrfs*46 |
Frameshift |
10/13 |
- |
1 |
12-103238122-TC-T |
c.1057del |
p.Glu353Asnfs*47 |
Frameshift |
10/13 |
- |
1 |
12-103238123-CA-C |
c.1056del |
p.Glu353Asnfs*47 |
Frameshift |
10/13 |
- |
1 |
12-103238125-C-A |
c.1054G>T |
p.Gly352Cys |
Missense |
10/13 |
- |
2 |
12-103238125-CC-C |
c.1055del |
p.Gly352Valfs*48 |
Frameshift |
10/13 |
- |
9 |
12-103238125-C-G |
c.1054G>C |
p.Gly352Arg |
Missense |
10/13 |
- |
4 |
12-103238126-CAAAGGATGACA-C |
c.1043_1053del |
p.Leu348Argfs*2 |
Frameshift |
10/13 |
- |
1 |
12-103238130-G-T |
c.1049C>A |
p.Ser350Tyr |
Missense |
10/13 |
- |
4 |
12-103238131-A-T |
c.1048T>A |
p.Ser350Thr |
Missense |
10/13 |
- |
1 |
12-103238132-T-A |
c.1047A>T |
p.Ser349Ser |
Synonymous |
10/13 |
- |
1 |
12-103238133-G-A |
c.1046C>T |
p.Ser349Leu |
Missense |
10/13 |
- |
2 |
12-103238133-G-T |
c.1046C>A |
p.Ser349* |
Nonsense |
10/13 |
- |
1 |
12-103238133-TG-T |
c.1046del |
p.Ser349Tyrfs*51 |
Frameshift |
10/13 |
- |
1 |
12-103238134-A-C |
c.1045T>G |
p.Ser349Ala |
Missense |
10/13 |
- |
12 |
12-103238134-A-G |
c.1045T>C |
p.Ser349Pro |
Missense |
10/13 |
- |
19 |
12-103238136-A-G |
c.1043T>C |
p.Leu348Pro |
Missense |
10/13 |
- |
1 |
12-103238137-G-C |
c.1042C>G |
p.Leu348Val |
Missense |
10/13 |
- |
20 |
12-103238137-G-T |
c.1042C>A |
p.Leu348Met |
Missense |
10/13 |
- |
1 |
12-103238139-AG-GC |
c.1039_1040delinsGC |
p.Leu347Ala |
Missense |
10/13 |
- |
1 |
12-103238139-A-T |
c.1040T>A |
p.Leu347His |
Missense |
10/13 |
- |
1 |
12-103238140-G-A |
c.1039C>T |
p.Leu347Phe |
Missense |
10/13 |
- |
1 |
12-103238143-CC-C |
c.1038del |
p.Leu347Serfs*53 |
Frameshift |
10/13 |
- |
1 |
12-103238143-C-T |
c.1036G>A |
p.Gly346Arg |
Missense |
10/13 |
- |
2 |
12-103238146-C-A |
c.1033G>T |
p.Ala345Ser |
Missense |
10/13 |
- |
2 |
12-103238146-C-T |
c.1033G>A |
p.Ala345Thr |
Missense |
10/13 |
- |
7 |
12-103238147-A-C |
c.1032T>G |
p.Gly344Gly |
Synonymous |
10/13 |
- |
1 |
12-103238147-A-G |
c.1032T>C |
p.Gly344Gly |
Synonymous |
10/13 |
- |
1 |
12-103238147-A-T |
c.1032T>A |
p.Gly344Gly |
Synonymous |
10/13 |
- |
1 |
12-103238148-C-T |
c.1031G>A |
p.Gly344Asp |
Missense |
10/13 |
- |
4 |
12-103238149-C-G |
c.1030G>C |
p.Gly344Arg |
Missense |
10/13 |
- |
2 |
12-103238149-C-T |
c.1030G>A |
p.Gly344Ser |
Missense |
10/13 |
- |
5 |
12-103238150-A-T |
c.1029T>A |
p.Tyr343* |
Nonsense |
10/13 |
- |
2 |
12-103238151-T-C |
c.1028A>G |
p.Tyr343Cys |
Missense |
10/13 |
- |
2 |
12-103238155-C-G |
c.1024G>C |
p.Ala342Pro |
Missense |
10/13 |
- |
2 |
12-103238155-C-T |
c.1024G>A |
p.Ala342Thr |
Missense |
10/13 |
- |
4 |
12-103238156-CC-C |
c.1024del |
p.Ala342Hisfs*58 |
Frameshift |
10/13 |
- |
7 |
12-103238156-C-G |
c.1023G>C |
p.Lys341Asn |
Missense |
10/13 |
- |
2 |
12-103238157-T-C |
c.1022A>G |
p.Lys341Arg |
Missense |
10/13 |
- |
1 |
12-103238157-T-G |
c.1022A>C |
p.Lys341Thr |
Missense |
10/13 |
- |
1 |
12-103238158-T-A |
c.1021A>T |
p.Lys341* |
Nonsense |
10/13 |
- |
1 |
12-103238160-A-G |
c.1019T>C |
p.Ile340Thr |
Missense |
10/13 |
- |
2 |
12-103238163-G-A |
c.1016C>T |
p.Ser339Phe |
Missense |
10/13 |
- |
1 |
12-103238163-G-GG |
c.1017dup |
p.Ile340Hisfs*14 |
Frameshift |
10/13 |
- |
1 |
12-103238167-C-A |
c.1012G>T |
p.Asp338Tyr |
Missense |
10/13 |
- |
6 |
12-103238173-G-A |
c.1006C>T |
p.Gln336* |
Nonsense |
10/13 |
- |
3 |
12-103238173-G-C |
c.1006C>G |
p.Gln336Glu |
Missense |
10/13 |
- |
1 |
12-103238176-T-C |
c.1003A>G |
p.Lys335Glu |
Missense |
10/13 |
- |
1 |
12-103238179-A-T |
c.1000T>A |
p.Cys334Ser |
Missense |
10/13 |
- |
1 |
12-103238180-G-A |
c.999C>T |
p.Leu333Leu |
Synonymous |
10/13 |
- |
1 |
12-103238180-G-C |
c.999C>G |
p.Leu333Leu |
Synonymous |
10/13 |
- |
1 |
12-103238180-G-T |
c.999C>A |
p.Leu333Leu |
Synonymous |
10/13 |
- |
1 |
12-103238182-G-A |
c.997C>T |
p.Leu333Phe |
Missense |
10/13 |
- |
3 |
12-103238184-C-A |
c.995G>T |
p.Gly332Val |
Missense |
10/13 |
- |
1 |
12-103238184-C-T |
c.995G>A |
p.Gly332Glu |
Missense |
10/13 |
- |
1 |
12-103238185-C-T |
c.994G>A |
p.Gly332Arg |
Missense |
10/13 |
- |
3 |
12-103238187-A-C |
c.992T>G |
p.Phe331Cys |
Missense |
10/13 |
- |
1 |
12-103238187-A-G |
c.992T>C |
p.Phe331Ser |
Missense |
10/13 |
- |
9 |
12-103238186-A-C |
c.993T>G |
p.Phe331Leu |
Missense |
10/13 |
- |
1 |
12-103238186-A-T |
c.993T>A |
p.Phe331Leu |
Missense |
10/13 |
- |
1 |
12-103238188-A-G |
c.991T>C |
p.Phe331Leu |
Missense |
10/13 |
- |
1 |
12-103238189-C-A |
c.990G>T |
p.Glu330Asp |
Missense |
10/13 |
- |
2 |
12-103238189-C-G |
c.990G>C |
p.Glu330Asp |
Missense |
10/13 |
- |
2 |
12-103238191-C-T |
c.988G>A |
p.Glu330Lys |
Missense |
10/13 |
- |
1 |
12-103238194-ACA-A |
c.986_987del |
p.Val329Glyfs*24 |
Frameshift |
10/13 |
- |
1 |
12-103238194-C-T |
c.985G>A |
p.Val329Met |
Missense |
10/13 |
- |
1 |
12-103238196-G-A |
c.983C>T |
p.Thr328Ile |
Missense |
10/13 |
- |
2 |
12-103238196-G-T |
c.983C>A |
p.Thr328Asn |
Missense |
10/13 |
- |
1 |
12-103238197-T-C |
c.982A>G |
p.Thr328Ala |
Missense |
10/13 |
- |
1 |
12-103238198-A-G |
c.981T>C |
p.Phe327Phe |
Synonymous |
10/13 |
- |
2 |
12-103238198-A-C |
c.981T>G |
p.Phe327Leu |
Missense |
10/13 |
- |
1 |
12-103238198-A-T |
c.981T>A |
p.Phe327Leu |
Missense |
10/13 |
- |
1 |
12-103238200-A-G |
c.979T>C |
p.Phe327Leu |
Missense |
10/13 |
- |
1 |
12-103238202-C-T |
c.977G>A |
p.Trp326* |
Nonsense |
10/13 |
- |
9 |
12-103238203-CA-C |
c.976del |
p.Trp326Glyfs*15 |
Frameshift |
10/13 |
- |
1 |
12-103238204-G-C |
c.975C>G |
p.Tyr325* |
Nonsense |
10/13 |
- |
6 |
12-103238205-T-C |
c.974A>G |
p.Tyr325Cys |
Missense |
10/13 |
- |
1 |
12-103238208-AA-A |
c.973del |
p.Tyr325Thrfs*16 |
Frameshift |
10/13 |
- |
1 |
12-103238208-A-T |
c.971T>A |
p.Ile324Asn |
Missense |
10/13 |
- |
6 |
12-103238210-C-A |
c.970-1G>T |
- |
IntronicSNV |
- |
9/12 |
1 |
12-103238211-T-C |
c.970-2A>G |
- |
IntronicSNV |
- |
9/12 |
2 |
12-103238404-C-T |
c.970-195G>A |
- |
IntronicSNV |
- |
9/12 |
1 |
12-103240067-C-T |
c.969+606G>A |
- |
IntronicSNV |
- |
9/12 |
1 |
12-103240630-C-A |
c.969+43G>T |
- |
IntronicSNV |
- |
9/12 |
4 |
12-103240668-C-T |
c.969+5G>A |
- |
IntronicSNV |
- |
9/12 |
3 |
12-103240672-C-T |
c.969+1G>A |
- |
IntronicSNV |
- |
9/12 |
2 |
12-103240673-CTGT-C |
c.967_969del |
p.Thr323del |
SpliceDonorDeletion |
9/13 |
- |
8 |
12-103240675-GTG-G |
c.968_969del |
p.Thr323Asnfs*30 |
SpliceDonorDeletion |
9/13 |
- |
1 |
12-103240675-T-C |
c.967A>G |
p.Thr323Ala |
Missense |
9/13 |
- |
1 |
12-103240677-G-C |
c.965C>G |
p.Ala322Gly |
Missense |
9/13 |
- |
3 |
12-103240677-G-T |
c.965C>A |
p.Ala322Asp |
Missense |
9/13 |
- |
3 |
12-103240678-C-T |
c.964G>A |
p.Ala322Thr |
Missense |
9/13 |
- |
5 |
12-103240679-G-A |
c.963C>T |
p.Leu321Leu |
Synonymous |
9/13 |
- |
6 |
12-103240681-G-A |
c.961C>T |
p.Leu321Phe |
Missense |
9/13 |
- |
2 |
12-103240681-G-T |
c.961C>A |
p.Leu321Ile |
Missense |
9/13 |
- |
1 |
12-103240682-C-G |
c.960G>C |
p.Lys320Asn |
Missense |
9/13 |
- |
5 |
12-103240684-T-A |
c.958A>T |
p.Lys320* |
Nonsense |
9/13 |
- |
1 |
12-103240685-T-A |
c.957A>T |
p.Glu319Asp |
Missense |
9/13 |
- |
1 |
12-103240685-T-G |
c.957A>C |
p.Glu319Asp |
Missense |
9/13 |
- |
1 |
12-103240689-A-G |
c.953T>C |
p.Ile318Thr |
Missense |
9/13 |
- |
1 |
12-103240699-C-A |
c.943G>T |
p.Asp315Tyr |
Missense |
9/13 |
- |
1 |
12-103240701-G-A |
c.941C>T |
p.Pro314Leu |
Missense |
9/13 |
- |
1 |
12-103240701-G-T |
c.941C>A |
p.Pro314His |
Missense |
9/13 |
- |
4 |
12-103240702-G-A |
c.940C>T |
p.Pro314Ser |
Missense |
9/13 |
- |
2 |
12-103240702-G-C |
c.940C>G |
p.Pro314Ala |
Missense |
9/13 |
- |
1 |
12-103240702-GG-G |
c.941del |
p.Pro314Leufs*27 |
Frameshift |
9/13 |
- |
1 |
12-103240702-G-T |
c.940C>A |
p.Pro314Thr |
Missense |
9/13 |
- |
5 |
12-103240703-GTGCACCCAGAG-G |
c.930_940del |
p.Leu311* |
Frameshift |
9/13 |
- |
1 |
12-103240704-G-A |
c.938C>T |
p.Ala313Val |
Missense |
9/13 |
- |
2 |
12-103240705-C-A |
c.937G>T |
p.Ala313Ser |
Missense |
9/13 |
- |
1 |
12-103240705-C-T |
c.937G>A |
p.Ala313Thr |
Missense |
9/13 |
- |
6 |
12-103240706-A-C |
c.936T>G |
p.Gly312Gly |
Synonymous |
9/13 |
- |
1 |
12-103240707-C-A |
c.935G>T |
p.Gly312Val |
Missense |
9/13 |
- |
4 |
12-103240707-C-T |
c.935G>A |
p.Gly312Asp |
Missense |
9/13 |
- |
2 |
12-103240708-C-A |
c.934G>T |
p.Gly312Cys |
Missense |
9/13 |
- |
2 |
12-103240708-C-G |
c.934G>C |
p.Gly312Arg |
Missense |
9/13 |
- |
1 |
12-103240708-C-T |
c.934G>A |
p.Gly312Ser |
Missense |
9/13 |
- |
1 |
12-103240709-CC-C |
c.935del |
p.Gly312Valfs*29 |
Frameshift |
9/13 |
- |
1 |
12-103240710-A-G |
c.932T>C |
p.Leu311Pro |
Missense |
9/13 |
- |
10 |
12-103240710-AG-TC |
c.931_932delinsGA |
p.Leu311Glu |
Missense |
9/13 |
- |
1 |
12-103240713-G-A |
c.929C>T |
p.Ser310Phe |
Missense |
9/13 |
- |
8 |
12-103240713-G-C |
c.929C>G |
p.Ser310Cys |
Missense |
9/13 |
- |
1 |
12-103240713-G-T |
c.929C>A |
p.Ser310Tyr |
Missense |
9/13 |
- |
2 |
12-103240714-GAG-G |
c.931_932del |
p.Leu311Glyfs*4 |
Frameshift |
9/13 |
- |
2 |
12-103240715-G-A |
c.927C>T |
p.Ala309Ala |
Synonymous |
9/13 |
- |
1 |
12-103240715-G-C |
c.927C>G |
p.Ala309Ala |
Synonymous |
9/13 |
- |
1 |
12-103240715-G-T |
c.927C>A |
p.Ala309Ala |
Synonymous |
9/13 |
- |
1 |
12-103240716-G-A |
c.926C>T |
p.Ala309Val |
Missense |
9/13 |
- |
9 |
12-103240716-G-T |
c.926C>A |
p.Ala309Asp |
Missense |
9/13 |
- |
3 |
12-103240717-C-T |
c.925G>A |
p.Ala309Thr |
Missense |
9/13 |
- |
1 |
12-103240720-G-A |
c.922C>T |
p.Leu308Phe |
Missense |
9/13 |
- |
3 |
12-103240720-G-C |
c.922C>G |
p.Leu308Val |
Missense |
9/13 |
- |
1 |
12-103240722-C-G |
c.920G>C |
p.Gly307Ala |
Missense |
9/13 |
- |
1 |
12-103240722-C-T |
c.920G>A |
p.Gly307Asp |
Missense |
9/13 |
- |
2 |
12-103240723-CC-C |
c.920del |
p.Gly307Alafs*34 |
Frameshift |
9/13 |
- |
2 |
12-103240726-T-C |
c.916A>G |
p.Ile306Val |
Missense |
9/13 |
- |
13 |
12-103240728-TT-T |
c.916del |
p.Ile306Leufs*35 |
Frameshift |
9/13 |
- |
2 |
12-103240731-T-C |
c.913-2A>G |
- |
IntronicSNV |
- |
8/12 |
2 |
12-103240736-T-C |
c.913-7A>G |
- |
IntronicSNV |
- |
8/12 |
7 |
12-103241070-T-C |
c.913-341A>G |
- |
IntronicSNV |
- |
8/12 |
2 |
12-103241188-A-G |
c.913-459T>C |
- |
IntronicSNV |
- |
8/12 |
1 |
12-103242396-A-G |
c.913-1667T>C |
- |
IntronicSNV |
- |
8/12 |
1 |
12-103244013-G-A |
c.912+1452C>T |
- |
IntronicSNV |
- |
8/12 |
3 |
12-103244013-G-T |
c.912+1452C>A |
- |
IntronicSNV |
- |
8/12 |
3 |
12-103245236-G-C |
c.912+229C>G |
- |
IntronicSNV |
- |
8/12 |
1 |
12-103245449-A-T |
c.912+16T>A |
- |
IntronicSNV |
- |
8/12 |
1 |
12-103245464-C-A |
c.912+1G>T |
- |
IntronicSNV |
- |
8/12 |
1 |
12-103245464-C-T |
c.912+1G>A |
- |
IntronicSNV |
- |
8/12 |
7 |
12-103245465-C-T |
c.912G>A |
p.Gln304Gln |
Synonymous |
8/13 |
- |
3 |
12-103245466-T-C |
c.911A>G |
p.Gln304Arg |
Missense |
8/13 |
- |
2 |
12-103245467-G-A |
c.910C>T |
p.Gln304* |
Nonsense |
8/13 |
- |
1 |
12-103245467-G-T |
c.910C>A |
p.Gln304Lys |
Missense |
8/13 |
- |
3 |
12-103245470-A-C |
c.907T>G |
p.Ser303Ala |
Missense |
8/13 |
- |
2 |
12-103245470-A-G |
c.907T>C |
p.Ser303Pro |
Missense |
8/13 |
- |
3 |
12-103245472-A-C |
c.905T>G |
p.Phe302Cys |
Missense |
8/13 |
- |
1 |
12-103245473-AA-A |
c.907del |
p.Ser303Profs*38 |
Frameshift |
8/13 |
- |
4 |
12-103245473-A-C |
c.904T>G |
p.Phe302Val |
Missense |
8/13 |
- |
1 |
12-103245476-G-A |
c.901C>T |
p.Gln301* |
Nonsense |
8/13 |
- |
3 |
12-103245478-G-A |
c.899C>T |
p.Ala300Val |
Missense |
8/13 |
- |
2 |
12-103245479-C-A |
c.898G>T |
p.Ala300Ser |
Missense |
8/13 |
- |
30 |
12-103245481-A-C |
c.896T>G |
p.Phe299Cys |
Missense |
8/13 |
- |
10 |
12-103245484-C-T |
c.893G>A |
p.Ser298Asn |
Missense |
8/13 |
- |
2 |
12-103245486-G-C |
c.891C>G |
p.Arg297Arg |
Synonymous |
8/13 |
- |
1 |
12-103245486-GC-AA |
c.890_891delinsTT |
p.Arg297Leu |
Missense |
8/13 |
- |
1 |
12-103245486-G-T |
c.891C>A |
p.Arg297Arg |
Synonymous |
8/13 |
- |
1 |
12-103245487-C-T |
c.890G>A |
p.Arg297His |
Missense |
8/13 |
- |
2 |
12-103245488-G-A |
c.889C>T |
p.Arg297Cys |
Missense |
8/13 |
- |
2 |
12-103245490-T-C |
c.887A>G |
p.Asp296Gly |
Missense |
8/13 |
- |
2 |
12-103245491-C-G |
c.886G>C |
p.Asp296His |
Missense |
8/13 |
- |
2 |
12-103245491-C-T |
c.886G>A |
p.Asp296Asn |
Missense |
8/13 |
- |
1 |
12-103245493-G-C |
c.884C>G |
p.Ser295* |
Nonsense |
8/13 |
- |
1 |
12-103245496-A-C |
c.881T>G |
p.Phe294Cys |
Missense |
8/13 |
- |
1 |
12-103245496-A-G |
c.881T>C |
p.Phe294Ser |
Missense |
8/13 |
- |
1 |
12-103245502-G-A |
c.875C>T |
p.Pro292Leu |
Missense |
8/13 |
- |
4 |
12-103245503-G-A |
c.874C>T |
p.Pro292Ser |
Missense |
8/13 |
- |
2 |
12-103245503-G-T |
c.874C>A |
p.Pro292Thr |
Missense |
8/13 |
- |
1 |
12-103245506-C-A |
c.871G>T |
p.Val291Leu |
Missense |
8/13 |
- |
1 |
12-103245506-C-T |
c.871G>A |
p.Val291Met |
Missense |
8/13 |
- |
3 |
12-103245508-T-A |
c.869A>T |
p.His290Leu |
Missense |
8/13 |
- |
1 |
12-103245513-C-A |
c.864G>T |
p.Leu288Phe |
Missense |
8/13 |
- |
1 |
12-103245513-C-G |
c.864G>C |
p.Leu288Phe |
Missense |
8/13 |
- |
1 |
12-103245517-A-T |
c.860T>A |
p.Leu287Gln |
Missense |
8/13 |
- |
1 |
12-103245519-C-T |
c.858G>A |
p.Glu286Glu |
Synonymous |
8/13 |
- |
1 |
12-103245521-C-T |
c.856G>A |
p.Glu286Lys |
Missense |
8/13 |
- |
2 |
12-103245522-A-G |
c.855T>C |
p.His285His |
Synonymous |
8/13 |
- |
1 |
12-103245523-TG-AG |
c.854delinsT |
p.His285Leu |
Missense |
8/13 |
- |
1 |
12-103245523-TG-GC |
c.853_854delinsGC |
p.His285Ala |
Missense |
8/13 |
- |
1 |
12-103245523-TG-TT |
c.853delinsA |
p.His285Asn |
Missense |
8/13 |
- |
1 |
12-103245524-G-A |
c.853C>T |
p.His285Tyr |
Missense |
8/13 |
- |
4 |
12-103245527-A-G |
c.850T>C |
p.Cys284Arg |
Missense |
8/13 |
- |
1 |
12-103245529-A-T |
c.848T>A |
p.Ile283Asn |
Missense |
8/13 |
- |
2 |
12-103245530-T-A |
c.847A>T |
p.Ile283Phe |
Missense |
8/13 |
- |
4 |
12-103245532-T-C |
c.845A>G |
p.Asp282Gly |
Missense |
8/13 |
- |
3 |
12-103245533-C-T |
c.844G>A |
p.Asp282Asn |
Missense |
8/13 |
- |
5 |
12-103245534-A-T |
c.843T>A |
p.Pro281Pro |
Synonymous |
8/13 |
- |
1 |
12-103245535-C-T |
c.843-1G>A |
- |
IntronicSNV |
- |
7/12 |
1 |
12-103245539-A-G |
c.843-5T>C |
- |
IntronicSNV |
- |
7/12 |
1 |
12-103245546-GAAAG-G |
c.843-13_843-10del |
- |
IntronicDeletion |
- |
7/12 |
1 |
12-103245802-A-G |
c.843-268T>C |
- |
IntronicSNV |
- |
7/12 |
4 |
12-103246261-A-G |
c.842+332T>C |
- |
IntronicSNV |
- |
7/12 |
1 |
12-103246588-C-T |
c.842+5G>A |
- |
IntronicSNV |
- |
7/12 |
4 |
12-103246589-T-C |
c.842+4A>G |
- |
IntronicSNV |
- |
7/12 |
1 |
12-103246590-C-G |
c.842+3G>C |
- |
IntronicSNV |
- |
7/12 |
5 |
12-103246590-TCACGGTTC-T |
c.838_842+3del |
- |
SpliceDonorDeletion |
7/13 |
7/12 |
1 |
12-103246591-A-T |
c.842+2T>A |
- |
IntronicSNV |
- |
7/12 |
6 |
12-103246592-ACGG-A |
c.841_842+1del |
- |
SpliceDonorDeletion |
7/13 |
7/12 |
1 |
12-103246592-C-A |
c.842+1G>T |
- |
IntronicSNV |
- |
7/12 |
1 |
12-103246592-C-T |
c.842+1G>A |
- |
IntronicSNV |
- |
7/12 |
16 |
12-103246593-G-A |
c.842C>T |
p.Pro281Leu |
Missense |
7/13 |
- |
47 |
12-103246593-G-C |
c.842C>G |
p.Pro281Arg |
Missense |
7/13 |
- |
2 |
12-103246594-G-A |
c.841C>T |
p.Pro281Ser |
Missense |
7/13 |
- |
6 |
12-103246594-G-C |
c.841C>G |
p.Pro281Ala |
Missense |
7/13 |
- |
2 |
12-103246594-G-GA |
c.840_841insT |
p.Pro281Serfs*2 |
SpliceDonorInsertion |
7/13 |
- |
1 |
12-103246594-G-GC |
c.840_841insG |
p.Pro281Alafs*2 |
SpliceDonorInsertion |
7/13 |
- |
1 |
12-103246595-T-TA |
c.839_840insT |
p.Glu280Aspfs*3 |
Frameshift |
7/13 |
- |
1 |
12-103246596-T-C |
c.839A>G |
p.Glu280Gly |
Missense |
7/13 |
- |
4 |
12-103246596-T-TT |
c.840dup |
p.Pro281Thrfs*2 |
SpliceDonorInsertion |
7/13 |
- |
1 |
12-103246597-C-A |
c.838G>T |
p.Glu280* |
Nonsense |
7/13 |
- |
2 |
12-103246597-C-G |
c.838G>C |
p.Glu280Gln |
Missense |
7/13 |
- |
4 |
12-103246597-C-T |
c.838G>A |
p.Glu280Lys |
Missense |
7/13 |
- |
39 |
12-103246598-G-A |
c.837C>T |
p.Pro279Pro |
Synonymous |
7/13 |
- |
1 |
12-103246598-G-C |
c.837C>G |
p.Pro279Pro |
Synonymous |
7/13 |
- |
1 |
12-103246598-G-T |
c.837C>A |
p.Pro279Pro |
Synonymous |
7/13 |
- |
1 |
12-103246602-G-A |
c.833C>T |
p.Thr278Ile |
Missense |
7/13 |
- |
9 |
12-103246602-GG-G |
c.837del |
p.Glu280Asnfs*61 |
Frameshift |
7/13 |
- |
3 |
12-103246602-G-T |
c.833C>A |
p.Thr278Asn |
Missense |
7/13 |
- |
6 |
12-103246603-T-C |
c.832A>G |
p.Thr278Ala |
Missense |
7/13 |
- |
3 |
12-103246604-TATACATGGGCT-T |
c.822_832del |
p.Lys274Asnfs*5 |
Frameshift |
7/13 |
- |
3 |
12-103246605-T-C |
c.830A>G |
p.Tyr277Cys |
Missense |
7/13 |
- |
2 |
12-103246606-A-C |
c.829T>G |
p.Tyr277Asp |
Missense |
7/13 |
- |
12 |
12-103246607-C-A |
c.828G>T |
p.Met276Ile |
Missense |
7/13 |
- |
1 |
12-103246607-C-G |
c.828G>C |
p.Met276Ile |
Missense |
7/13 |
- |
1 |
12-103246607-C-T |
c.828G>A |
p.Met276Ile |
Missense |
7/13 |
- |
1 |
12-103246608-A-C |
c.827T>G |
p.Met276Arg |
Missense |
7/13 |
- |
5 |
12-103246608-A-T |
c.827T>A |
p.Met276Lys |
Missense |
7/13 |
- |
6 |
12-103246609-T-C |
c.826A>G |
p.Met276Val |
Missense |
7/13 |
- |
1 |
12-103246611-G-A |
c.824C>T |
p.Pro275Leu |
Missense |
7/13 |
- |
4 |
12-103246611-G-C |
c.824C>G |
p.Pro275Arg |
Missense |
7/13 |
- |
1 |
12-103246612-G-A |
c.823C>T |
p.Pro275Ser |
Missense |
7/13 |
- |
4 |
12-103246612-G-C |
c.823C>G |
p.Pro275Ala |
Missense |
7/13 |
- |
1 |
12-103246612-G-T |
c.823C>A |
p.Pro275Thr |
Missense |
7/13 |
- |
1 |
12-103246615-T-C |
c.820A>G |
p.Lys274Glu |
Missense |
7/13 |
- |
7 |
12-103246617-G-A |
c.818C>T |
p.Ser273Phe |
Missense |
7/13 |
- |
3 |
12-103246621-C-A |
c.814G>T |
p.Gly272* |
Nonsense |
7/13 |
- |
13 |
12-103246622-CATGTC-C |
c.810_814del |
p.His271Ilefs*10 |
Frameshift |
7/13 |
- |
1 |
12-103246623-T-A |
c.812A>T |
p.His271Leu |
Missense |
7/13 |
- |
4 |
12-103246623-T-C |
c.812A>G |
p.His271Arg |
Missense |
7/13 |
- |
5 |
12-103246624-G-A |
c.811C>T |
p.His271Tyr |
Missense |
7/13 |
- |
1 |
12-103246625-T-A |
c.810A>T |
p.Arg270Ser |
Missense |
7/13 |
- |
3 |
12-103246625-TCT-CAT |
c.809_810delinsTG |
p.Arg270Met |
Missense |
7/13 |
- |
3 |
12-103246625-T-G |
c.810A>C |
p.Arg270Ser |
Missense |
7/13 |
- |
3 |
12-103246626-C-A |
c.809G>T |
p.Arg270Ile |
Missense |
7/13 |
- |
1 |
12-103246626-C-T |
c.809G>A |
p.Arg270Lys |
Missense |
7/13 |
- |
10 |
12-103246627-T-C |
c.808A>G |
p.Arg270Gly |
Missense |
7/13 |
- |
1 |
12-103246629-A-T |
c.806T>A |
p.Ile269Asn |
Missense |
7/13 |
- |
1 |
12-103246629-GA-G |
c.806del |
p.Ile269Thrfs*72 |
Frameshift |
7/13 |
- |
5 |
12-103246630-T-C |
c.805A>G |
p.Ile269Val |
Missense |
7/13 |
- |
1 |
12-103246630-T-G |
c.805A>C |
p.Ile269Leu |
Missense |
7/13 |
- |
4 |
12-103246631-G-T |
c.804C>A |
p.Tyr268* |
Nonsense |
7/13 |
- |
1 |
12-103246633-A-G |
c.802T>C |
p.Tyr268His |
Missense |
7/13 |
- |
1 |
12-103246635-T-A |
c.800A>T |
p.Gln267Leu |
Missense |
7/13 |
- |
6 |
12-103246636-G-A |
c.799C>T |
p.Gln267* |
Nonsense |
7/13 |
- |
3 |
12-103246636-G-C |
c.799C>G |
p.Gln267Glu |
Missense |
7/13 |
- |
2 |
12-103246638-G-A |
c.797C>T |
p.Thr266Ile |
Missense |
7/13 |
- |
1 |
12-103246638-GT-GA |
c.796delinsT |
p.Thr266Ser |
Missense |
7/13 |
- |
1 |
12-103246639-T-G |
c.796A>C |
p.Thr266Pro |
Missense |
7/13 |
- |
1 |
12-103246640-G-T |
c.795C>A |
p.Cys265* |
Nonsense |
7/13 |
- |
2 |
12-103246641-C-T |
c.794G>A |
p.Cys265Tyr |
Missense |
7/13 |
- |
1 |
12-103246642-A-C |
c.793T>G |
p.Cys265Gly |
Missense |
7/13 |
- |
1 |
12-103246642-A-G |
c.793T>C |
p.Cys265Arg |
Missense |
7/13 |
- |
2 |
12-103246644-T-A |
c.791A>T |
p.His264Leu |
Missense |
7/13 |
- |
1 |
12-103246645-G-T |
c.790C>A |
p.His264Asn |
Missense |
7/13 |
- |
1 |
12-103246647-A-G |
c.788T>C |
p.Phe263Ser |
Missense |
7/13 |
- |
13 |
12-103246646-G-C |
c.789C>G |
p.Phe263Leu |
Missense |
7/13 |
- |
4 |
12-103246650-A-C |
c.785T>G |
p.Val262Gly |
Missense |
7/13 |
- |
1 |
12-103246653-C-A |
c.782G>T |
p.Arg261Leu |
Missense |
7/13 |
- |
4 |
12-103246653-C-G |
c.782G>C |
p.Arg261Pro |
Missense |
7/13 |
- |
8 |
12-103246653-C-T |
c.782G>A |
p.Arg261Gln |
Missense |
7/13 |
- |
76 |
12-103246652-T-A |
c.783A>T |
p.Arg261Arg |
Synonymous |
7/13 |
- |
1 |
12-103246652-T-C |
c.783A>G |
p.Arg261Arg |
Synonymous |
7/13 |
- |
1 |
12-103246652-T-G |
c.783A>C |
p.Arg261Arg |
Synonymous |
7/13 |
- |
1 |
12-103246654-G-A |
c.781C>T |
p.Arg261* |
Nonsense |
7/13 |
- |
38 |
12-103246654-G-C |
c.781C>G |
p.Arg261Gly |
Missense |
7/13 |
- |
4 |
12-103246654-G-T |
c.781C>A |
p.Arg261Arg |
Synonymous |
7/13 |
- |
1 |
12-103246655-G-C |
c.780C>G |
p.Phe260Leu |
Missense |
7/13 |
- |
1 |
12-103246655-G-T |
c.780C>A |
p.Phe260Leu |
Missense |
7/13 |
- |
1 |
12-103246657-A-G |
c.778T>C |
p.Phe260Leu |
Missense |
7/13 |
- |
1 |
12-103246657-A-T |
c.778T>A |
p.Phe260Ile |
Missense |
7/13 |
- |
2 |
12-103246659-G-A |
c.776C>T |
p.Ala259Val |
Missense |
7/13 |
- |
7 |
12-103246660-C-T |
c.775G>A |
p.Ala259Thr |
Missense |
7/13 |
- |
7 |
12-103246661-C-A |
c.774G>T |
p.Leu258Leu |
Synonymous |
7/13 |
- |
2 |
12-103246661-C-G |
c.774G>C |
p.Leu258Leu |
Synonymous |
7/13 |
- |
2 |
12-103246661-C-T |
c.774G>A |
p.Leu258Leu |
Synonymous |
7/13 |
- |
2 |
12-103246663-G-A |
c.772C>T |
p.Leu258Leu |
Synonymous |
7/13 |
- |
3 |
12-103246664-G-A |
c.771C>T |
p.Gly257Gly |
Synonymous |
7/13 |
- |
1 |
12-103246664-G-C |
c.771C>G |
p.Gly257Gly |
Synonymous |
7/13 |
- |
1 |
12-103246664-G-T |
c.771C>A |
p.Gly257Gly |
Synonymous |
7/13 |
- |
1 |
12-103246665-C-A |
c.770G>T |
p.Gly257Val |
Missense |
7/13 |
- |
9 |
12-103246665-C-T |
c.770G>A |
p.Gly257Asp |
Missense |
7/13 |
- |
3 |
12-103246666-C-A |
c.769G>T |
p.Gly257Cys |
Missense |
7/13 |
- |
1 |
12-103246666-C-T |
c.769G>A |
p.Gly257Ser |
Missense |
7/13 |
- |
2 |
12-103246668-C-A |
c.767G>T |
p.Gly256Val |
Missense |
7/13 |
- |
1 |
12-103246671-A-C |
c.764T>G |
p.Leu255Trp |
Missense |
7/13 |
- |
1 |
12-103246671-A-G |
c.764T>C |
p.Leu255Ser |
Missense |
7/13 |
- |
16 |
12-103246672-A-C |
c.763T>G |
p.Leu255Val |
Missense |
7/13 |
- |
4 |
12-103246675-A-T |
c.760T>A |
p.Phe254Ile |
Missense |
7/13 |
- |
1 |
12-103246678-C-T |
c.757G>A |
p.Asp253Asn |
Missense |
7/13 |
- |
1 |
12-103246680-C-G |
c.755G>C |
p.Arg252Pro |
Missense |
7/13 |
- |
2 |
12-103246680-C-T |
c.755G>A |
p.Arg252Gln |
Missense |
7/13 |
- |
18 |
12-103246679-C-A |
c.756G>T |
p.Arg252Arg |
Synonymous |
7/13 |
- |
1 |
12-103246679-C-G |
c.756G>C |
p.Arg252Arg |
Synonymous |
7/13 |
- |
1 |
12-103246681-G-A |
c.754C>T |
p.Arg252Trp |
Missense |
7/13 |
- |
35 |
12-103246681-G-C |
c.754C>G |
p.Arg252Gly |
Missense |
7/13 |
- |
7 |
12-103246681-G-T |
c.754C>A |
p.Arg252Arg |
Synonymous |
7/13 |
- |
2 |
12-103246682-GA-G |
c.753del |
p.Arg252Glyfs*89 |
Frameshift |
7/13 |
- |
1 |
12-103246684-GA-G |
c.751del |
p.Ser251Leufs*90 |
Frameshift |
7/13 |
- |
1 |
12-103246684-GAG-G |
c.753_754del |
p.Arg252Glyfs*30 |
Frameshift |
7/13 |
- |
1 |
12-103246686-G-A |
c.749C>T |
p.Ser250Phe |
Missense |
7/13 |
- |
1 |
12-103246690-AG-A |
c.745del |
p.Leu249Phefs*92 |
Frameshift |
7/13 |
- |
1 |
12-103246690-G-A |
c.745C>T |
p.Leu249Phe |
Missense |
7/13 |
- |
11 |
12-103246692-A-C |
c.743T>G |
p.Leu248Arg |
Missense |
7/13 |
- |
2 |
12-103246692-A-G |
c.743T>C |
p.Leu248Pro |
Missense |
7/13 |
- |
2 |
12-103246693-G-C |
c.742C>G |
p.Leu248Val |
Missense |
7/13 |
- |
1 |
12-103246695-C-A |
c.740G>T |
p.Gly247Val |
Missense |
7/13 |
- |
15 |
12-103246695-C-T |
c.740G>A |
p.Gly247Asp |
Missense |
7/13 |
- |
3 |
12-103246696-CC-C |
c.740del |
p.Gly247Alafs*94 |
Frameshift |
7/13 |
- |
1 |
12-103246696-C-G |
c.739G>C |
p.Gly247Arg |
Missense |
7/13 |
- |
10 |
12-103246696-C-T |
c.739G>A |
p.Gly247Ser |
Missense |
7/13 |
- |
3 |
12-103246698-AG-A |
c.737del |
p.Ala246Valfs*95 |
Frameshift |
7/13 |
- |
2 |
12-103246698-G-A |
c.737C>T |
p.Ala246Val |
Missense |
7/13 |
- |
3 |
12-103246698-G-T |
c.737C>A |
p.Ala246Asp |
Missense |
7/13 |
- |
2 |
12-103246700-C-A |
c.735G>T |
p.Val245Val |
Synonymous |
7/13 |
- |
13 |
12-103246700-CAC-ATC |
c.734_735delinsAT |
p.Val245Asp |
Missense |
7/13 |
- |
2 |
12-103246700-C-G |
c.735G>C |
p.Val245Val |
Synonymous |
7/13 |
- |
21 |
12-103246700-C-T |
c.735G>A |
p.Val245Val |
Synonymous |
7/13 |
- |
24 |
12-103246701-A-G |
c.734T>C |
p.Val245Ala |
Missense |
7/13 |
- |
17 |
12-103246701-A-T |
c.734T>A |
p.Val245Glu |
Missense |
7/13 |
- |
5 |
12-103246702-C-G |
c.733G>C |
p.Val245Leu |
Missense |
7/13 |
- |
3 |
12-103246702-C-T |
c.733G>A |
p.Val245Met |
Missense |
7/13 |
- |
2 |
12-103246704-G-A |
c.731C>T |
p.Pro244Leu |
Missense |
7/13 |
- |
4 |
12-103246705-G-A |
c.730C>T |
p.Pro244Ser |
Missense |
7/13 |
- |
1 |
12-103246705-G-GAA |
c.729_730insTT |
p.Pro244Phefs*98 |
Frameshift |
7/13 |
- |
1 |
12-103246707-C-A |
c.728G>T |
p.Arg243Leu |
Missense |
7/13 |
- |
5 |
12-103246707-C-T |
c.728G>A |
p.Arg243Gln |
Missense |
7/13 |
- |
49 |
12-103246708-CGG-C |
c.726_727del |
p.Arg243Thrfs*39 |
Frameshift |
7/13 |
- |
1 |
12-103246708-G-A |
c.727C>T |
p.Arg243* |
Nonsense |
7/13 |
- |
34 |
12-103246711-G-A |
c.724C>T |
p.Leu242Phe |
Missense |
7/13 |
- |
10 |
12-103246712-GCG-TGG |
c.722_723delinsCA |
p.Arg241Pro |
Missense |
7/13 |
- |
1 |
12-103246713-C-A |
c.722G>T |
p.Arg241Leu |
Missense |
7/13 |
- |
4 |
12-103246713-C-T |
c.722G>A |
p.Arg241His |
Missense |
7/13 |
- |
20 |
12-103246713-GC-G |
c.722del |
p.Arg241Profs*100 |
Frameshift |
7/13 |
- |
9 |
12-103246714-G-A |
c.721C>T |
p.Arg241Cys |
Missense |
7/13 |
- |
34 |
12-103246718-A-C |
c.717T>G |
p.Gly239Gly |
Synonymous |
7/13 |
- |
1 |
12-103246718-A-G |
c.717T>C |
p.Gly239Gly |
Synonymous |
7/13 |
- |
1 |
12-103246718-A-T |
c.717T>A |
p.Gly239Gly |
Synonymous |
7/13 |
- |
1 |
12-103246719-C-A |
c.716G>T |
p.Gly239Val |
Missense |
7/13 |
- |
4 |
12-103246719-C-G |
c.716G>C |
p.Gly239Ala |
Missense |
7/13 |
- |
5 |
12-103246719-C-T |
c.716G>A |
p.Gly239Asp |
Missense |
7/13 |
- |
6 |
12-103246723-T-C |
c.712A>G |
p.Thr238Ala |
Missense |
7/13 |
- |
3 |
12-103246723-T-G |
c.712A>C |
p.Thr238Pro |
Missense |
7/13 |
- |
1 |
12-103246727-AG-TG |
c.708delinsA |
p.Thr236Thr |
Missense |
7/13 |
- |
1 |
12-103246728-G-T |
c.707C>A |
p.Thr236Asn |
Missense |
7/13 |
- |
1 |
12-103246729-C-T |
c.707-1G>A |
- |
IntronicSNV |
- |
6/12 |
5 |
12-103246735-T-A |
c.707-7A>T |
- |
IntronicSNV |
- |
6/12 |
3 |
12-103247564-T-A |
c.707-836A>T |
- |
IntronicSNV |
- |
6/12 |
1 |
12-103247653-A-T |
c.707-925T>A |
- |
IntronicSNV |
- |
6/12 |
1 |
12-103248272-A-C |
c.706+642T>G |
- |
IntronicSNV |
- |
6/12 |
1 |
12-103248272-A-G |
c.706+642T>C |
- |
IntronicSNV |
- |
6/12 |
1 |
12-103248272-A-T |
c.706+642T>A |
- |
IntronicSNV |
- |
6/12 |
1 |
12-103248301-T-C |
c.706+613A>G |
- |
IntronicSNV |
- |
6/12 |
1 |
12-103248779-AGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTT-A |
c.706+77_706+135del |
- |
SpliceDonorDeletion |
- |
6/12 |
1 |
12-103248917-G-A |
c.703C>T |
p.Gln235* |
Nonsense |
6/13 |
- |
3 |
12-103248921-G-C |
c.699C>G |
p.Phe233Leu |
Missense |
6/13 |
- |
3 |
12-103248921-G-T |
c.699C>A |
p.Phe233Leu |
Missense |
6/13 |
- |
3 |
12-103248924-C-G |
c.696G>C |
p.Gln232His |
Missense |
6/13 |
- |
7 |
12-103248924-C-T |
c.696G>A |
p.Gln232Gln |
Synonymous |
6/13 |
- |
17 |
12-103248926-G-A |
c.694C>T |
p.Gln232* |
Nonsense |
6/13 |
- |
10 |
12-103248926-G-C |
c.694C>G |
p.Gln232Glu |
Missense |
6/13 |
- |
1 |
12-103248928-G-A |
c.692C>T |
p.Ser231Phe |
Missense |
6/13 |
- |
2 |
12-103248929-A-AC |
c.690_691insG |
p.Ser231Valfs*52 |
Frameshift |
6/13 |
- |
1 |
12-103248929-A-G |
c.691T>C |
p.Ser231Pro |
Missense |
6/13 |
- |
7 |
12-103248931-A-C |
c.689T>G |
p.Val230Gly |
Missense |
6/13 |
- |
1 |
12-103248931-A-G |
c.689T>C |
p.Val230Ala |
Missense |
6/13 |
- |
1 |
12-103248932-C-T |
c.688G>A |
p.Val230Ile |
Missense |
6/13 |
- |
20 |
12-103248934-T-C |
c.686A>G |
p.Asp229Gly |
Missense |
6/13 |
- |
2 |
12-103248934-T-TT |
c.686dup |
p.Asp229Glufs*54 |
Frameshift |
6/13 |
- |
1 |
12-103248936-T-A |
c.684A>T |
p.Glu228Asp |
Missense |
6/13 |
- |
1 |
12-103248936-T-G |
c.684A>C |
p.Glu228Asp |
Missense |
6/13 |
- |
1 |
12-103248937-T-C |
c.683A>G |
p.Glu228Gly |
Missense |
6/13 |
- |
1 |
12-103248938-C-A |
c.682G>T |
p.Glu228* |
Nonsense |
6/13 |
- |
3 |
12-103248938-C-T |
c.682G>A |
p.Glu228Lys |
Missense |
6/13 |
- |
2 |
12-103248940-A-T |
c.680T>A |
p.Leu227Gln |
Missense |
6/13 |
- |
1 |
12-103248941-G-C |
c.679C>G |
p.Leu227Val |
Missense |
6/13 |
- |
1 |
12-103248942-C-A |
c.678G>T |
p.Gln226His |
Missense |
6/13 |
- |
3 |
12-103248942-C-G |
c.678G>C |
p.Gln226His |
Missense |
6/13 |
- |
2 |
12-103248943-T-A |
c.677A>T |
p.Gln226Leu |
Missense |
6/13 |
- |
1 |
12-103248944-G-A |
c.676C>T |
p.Gln226* |
Nonsense |
6/13 |
- |
1 |
12-103248944-G-T |
c.676C>A |
p.Gln226Lys |
Missense |
6/13 |
- |
1 |
12-103248947-G-T |
c.673C>A |
p.Pro225Thr |
Missense |
6/13 |
- |
2 |
12-103248949-A-G |
c.671T>C |
p.Ile224Thr |
Missense |
6/13 |
- |
2 |
12-103248951-TG-T |
c.669del |
p.Asn223Lysfs*118 |
Frameshift |
6/13 |
- |
1 |
12-103248952-T-A |
c.668A>T |
p.Asn223Ile |
Missense |
6/13 |
- |
2 |
12-103248954-ATC-TAA |
c.664_666delinsTTA |
p.Asp222Leu |
Nonsense |
6/13 |
- |
2 |
12-103248955-T-A |
c.665A>T |
p.Asp222Val |
Missense |
6/13 |
- |
1 |
12-103248955-T-C |
c.665A>G |
p.Asp222Gly |
Missense |
6/13 |
- |
6 |
12-103248956-TCT-T |
c.664_665del |
p.Asp222* |
Frameshift |
6/13 |
- |
8 |
12-103248958-T-C |
c.662A>G |
p.Glu221Gly |
Missense |
6/13 |
- |
2 |
12-103248961-T-G |
c.659A>C |
p.His220Pro |
Missense |
6/13 |
- |
2 |
12-103248967-C-A |
c.653G>T |
p.Gly218Val |
Missense |
6/13 |
- |
5 |
12-103248967-C-T |
c.653G>A |
p.Gly218Asp |
Missense |
6/13 |
- |
1 |
12-103248970-C-T |
c.650G>A |
p.Cys217Tyr |
Missense |
6/13 |
- |
4 |
12-103248972-G-C |
c.648C>G |
p.Tyr216* |
Nonsense |
6/13 |
- |
3 |
12-103248979-T-C |
c.641A>G |
p.Glu214Gly |
Missense |
6/13 |
- |
1 |
12-103248982-A-G |
c.638T>C |
p.Leu213Pro |
Missense |
6/13 |
- |
7 |
12-103248982-AG-GC |
c.637_638delinsGC |
p.Leu213Ala |
Missense |
6/13 |
- |
1 |
12-103248983-G-A |
c.637C>T |
p.Leu213Phe |
Missense |
6/13 |
- |
2 |
12-103248983-G-T |
c.637C>A |
p.Leu213Ile |
Missense |
6/13 |
- |
2 |
12-103248985-A-G |
c.635T>C |
p.Leu212Pro |
Missense |
6/13 |
- |
3 |
12-103248985-AG-GC |
c.634_635delinsGC |
p.Leu212Ala |
Missense |
6/13 |
- |
1 |
12-103248987-T-C |
c.633A>G |
p.Pro211Pro |
Synonymous |
6/13 |
- |
2 |
12-103248988-G-A |
c.632C>T |
p.Pro211Leu |
Missense |
6/13 |
- |
2 |
12-103248989-G-A |
c.631C>T |
p.Pro211Ser |
Missense |
6/13 |
- |
3 |
12-103248989-GG-G |
c.632del |
p.Pro211Hisfs*130 |
Frameshift |
6/13 |
- |
5 |
12-103248989-G-T |
c.631C>A |
p.Pro211Thr |
Missense |
6/13 |
- |
10 |
12-103248991-AA-GC |
c.628_629delinsGC |
p.Phe210Ala |
Missense |
6/13 |
- |
1 |
12-103248992-A-G |
c.628T>C |
p.Phe210Leu |
Missense |
6/13 |
- |
1 |
12-103249001-T-C |
c.619A>G |
p.Asn207Asp |
Missense |
6/13 |
- |
1 |
12-103249002-G-C |
c.618C>G |
p.Tyr206* |
Nonsense |
6/13 |
- |
4 |
12-103249002-G-T |
c.618C>A |
p.Tyr206* |
Nonsense |
6/13 |
- |
4 |
12-103249003-T-C |
c.617A>G |
p.Tyr206Cys |
Missense |
6/13 |
- |
4 |
12-103249005-C-G |
c.615G>C |
p.Glu205Asp |
Missense |
6/13 |
- |
1 |
12-103249006-CTCATAGCAAGCATGGGTTTTAT-C |
c.593_614del |
p.Tyr198Cysfs*136 |
Frameshift |
6/13 |
- |
3 |
12-103249006-T-G |
c.614A>C |
p.Glu205Ala |
Missense |
6/13 |
- |
1 |
12-103249008-A-C |
c.612T>G |
p.Tyr204* |
Nonsense |
6/13 |
- |
3 |
12-103249008-A-G |
c.612T>C |
p.Tyr204Tyr |
Synonymous |
6/13 |
- |
1 |
12-103249009-ATAGCAAGCATGGGTTTTATACA-A |
c.592_613del |
p.Tyr198Serfs*136 |
Frameshift |
6/13 |
- |
4 |
12-103249009-ATAGCAAGCATGGGTTTTATACAA-A |
c.590_612del |
p.Leu197* |
Frameshift |
6/13 |
- |
1 |
12-103249009-T-C |
c.611A>G |
p.Tyr204Cys |
Missense |
6/13 |
- |
22 |
12-103249011-G-C |
c.609C>G |
p.Cys203Trp |
Missense |
6/13 |
- |
1 |
12-103249012-C-T |
c.608G>A |
p.Cys203Tyr |
Missense |
6/13 |
- |
4 |
12-103249013-A-T |
c.607T>A |
p.Cys203Ser |
Missense |
6/13 |
- |
1 |
12-103249013-CAAGCATGGGTTTTATACAAGGAC-C |
c.586_608del |
p.Ser196Leufs*2 |
Frameshift |
6/13 |
- |
1 |
12-103249014-A-AA |
c.607dup |
p.Cys203Leufs*3 |
Frameshift |
6/13 |
- |
1 |
12-103249016-C-T |
c.604G>A |
p.Ala202Thr |
Missense |
6/13 |
- |
1 |
12-103249017-A-G |
c.603T>C |
p.His201His |
Synonymous |
6/13 |
- |
1 |
12-103249018-T-C |
c.602A>G |
p.His201Arg |
Missense |
6/13 |
- |
2 |
12-103249018-T-G |
c.602A>C |
p.His201Pro |
Missense |
6/13 |
- |
1 |
12-103249019-G-A |
c.601C>T |
p.His201Tyr |
Missense |
6/13 |
- |
3 |
12-103249021-G-T |
c.599C>A |
p.Thr200Asn |
Missense |
6/13 |
- |
2 |
12-103249025-T-TT |
c.598dup |
p.Thr200Asnfs*6 |
Frameshift |
6/13 |
- |
3 |
12-103249026-A-C |
c.594T>G |
p.Tyr198* |
Nonsense |
6/13 |
- |
1 |
12-103249029-C-A |
c.591G>T |
p.Leu197Phe |
Missense |
6/13 |
- |
1 |
12-103249029-C-G |
c.591G>C |
p.Leu197Phe |
Missense |
6/13 |
- |
1 |
12-103249030-A-T |
c.590T>A |
p.Leu197* |
Nonsense |
6/13 |
- |
1 |
12-103249032-G-A |
c.588C>T |
p.Ser196Ser |
Synonymous |
6/13 |
- |
1 |
12-103249032-G-C |
c.588C>G |
p.Ser196Ser |
Synonymous |
6/13 |
- |
1 |
12-103249032-G-T |
c.588C>A |
p.Ser196Ser |
Synonymous |
6/13 |
- |
1 |
12-103249037-T-TT |
c.584dup |
p.Ser196Valfs*4 |
Frameshift |
6/13 |
- |
1 |
12-103249039-A-C |
c.581T>G |
p.Leu194Arg |
Missense |
6/13 |
- |
1 |
12-103249039-A-G |
c.581T>C |
p.Leu194Pro |
Missense |
6/13 |
- |
5 |
12-103249040-G-C |
c.580C>G |
p.Leu194Val |
Missense |
6/13 |
- |
1 |
12-103249041-GAG-G |
c.580_581del |
p.Leu194Glufs*5 |
Frameshift |
6/13 |
- |
4 |
12-103249042-G-A |
c.578C>T |
p.Thr193Ile |
Missense |
6/13 |
- |
1 |
12-103249046-T-A |
c.574A>T |
p.Lys192* |
Nonsense |
6/13 |
- |
1 |
12-103249048-AA-GC |
c.571_572delinsGC |
p.Phe191Ala |
Missense |
6/13 |
- |
1 |
12-103249051-A-G |
c.569T>C |
p.Val190Ala |
Missense |
6/13 |
- |
8 |
12-103249056-G-A |
c.564C>T |
p.Gly188Gly |
Synonymous |
6/13 |
- |
1 |
12-103249056-G-T |
c.564C>A |
p.Gly188Gly |
Synonymous |
6/13 |
- |
1 |
12-103249057-C-A |
c.563G>T |
p.Gly188Val |
Missense |
6/13 |
- |
1 |
12-103249057-C-T |
c.563G>A |
p.Gly188Asp |
Missense |
6/13 |
- |
3 |
12-103249059-C-G |
c.561G>C |
p.Trp187Cys |
Missense |
6/13 |
- |
2 |
12-103249059-C-T |
c.561G>A |
p.Trp187* |
Nonsense |
6/13 |
- |
9 |
12-103249060-CC-C |
c.563del |
p.Gly188Alafs*7 |
Frameshift |
6/13 |
- |
1 |
12-103249060-C-T |
c.560G>A |
p.Trp187* |
Nonsense |
6/13 |
- |
5 |
12-103249061-A-G |
c.559T>C |
p.Trp187Arg |
Missense |
6/13 |
- |
2 |
12-103249061-CAT-C |
c.558_559del |
p.Trp187Glyfs*12 |
Frameshift |
6/13 |
- |
1 |
12-103249062-AT-A |
c.558del |
p.Trp187Glyfs*8 |
Frameshift |
6/13 |
- |
1 |
12-103249063-G-A |
c.557C>T |
p.Thr186Ile |
Missense |
6/13 |
- |
1 |
12-103249063-G-T |
c.557C>A |
p.Thr186Lys |
Missense |
6/13 |
- |
1 |
12-103249067-TT-T |
c.556del |
p.Thr186Hisfs*9 |
Frameshift |
6/13 |
- |
1 |
12-103249072-T-C |
c.548A>G |
p.Glu183Gly |
Missense |
6/13 |
- |
2 |
12-103249072-TC-CT |
c.547_548delinsAG |
p.Glu183Arg |
Missense |
6/13 |
- |
1 |
12-103249072-TT-T |
c.551del |
p.Lys184Argfs*11 |
Frameshift |
6/13 |
- |
1 |
12-103249073-C-G |
c.547G>C |
p.Glu183Gln |
Missense |
6/13 |
- |
2 |
12-103249076-C-G |
c.544G>C |
p.Glu182Gln |
Missense |
6/13 |
- |
1 |
12-103249076-C-T |
c.544G>A |
p.Glu182Lys |
Missense |
6/13 |
- |
4 |
12-103249081-A-C |
c.539T>G |
p.Met180Arg |
Missense |
6/13 |
- |
1 |
12-103249081-AT-TA |
c.538_539delinsTA |
p.Met180* |
Nonsense |
6/13 |
- |
1 |
12-103249082-T-C |
c.538A>G |
p.Met180Val |
Missense |
6/13 |
- |
1 |
12-103249084-T-G |
c.536A>C |
p.Tyr179Ser |
Missense |
6/13 |
- |
1 |
12-103249085-A-G |
c.535T>C |
p.Tyr179His |
Missense |
6/13 |
- |
1 |
12-103249085-A-T |
c.535T>A |
p.Tyr179Asn |
Missense |
6/13 |
- |
3 |
12-103249087-T-C |
c.533A>G |
p.Glu178Gly |
Missense |
6/13 |
- |
7 |
12-103249088-C-T |
c.532G>A |
p.Glu178Lys |
Missense |
6/13 |
- |
2 |
12-103249090-A-G |
c.530T>C |
p.Val177Ala |
Missense |
6/13 |
- |
1 |
12-103249091-C-G |
c.529G>C |
p.Val177Leu |
Missense |
6/13 |
- |
6 |
12-103249091-C-T |
c.529G>A |
p.Val177Met |
Missense |
6/13 |
- |
4 |
12-103249093-C-A |
c.527G>T |
p.Arg176Leu |
Missense |
6/13 |
- |
9 |
12-103249093-C-G |
c.527G>C |
p.Arg176Pro |
Missense |
6/13 |
- |
2 |
12-103249093-C-T |
c.527G>A |
p.Arg176Gln |
Missense |
6/13 |
- |
4 |
12-103249094-G-A |
c.526C>T |
p.Arg176* |
Nonsense |
6/13 |
- |
22 |
12-103249097-G-A |
c.523C>T |
p.Pro175Ser |
Missense |
6/13 |
- |
2 |
12-103249097-G-C |
c.523C>G |
p.Pro175Ala |
Missense |
6/13 |
- |
1 |
12-103249099-A-G |
c.521T>C |
p.Ile174Thr |
Missense |
6/13 |
- |
4 |
12-103249099-A-T |
c.521T>A |
p.Ile174Asn |
Missense |
6/13 |
- |
3 |
12-103249100-T-C |
c.520A>G |
p.Ile174Val |
Missense |
6/13 |
- |
4 |
12-103249103-G-T |
c.517C>A |
p.Pro173Thr |
Missense |
6/13 |
- |
1 |
12-103249104-C-A |
c.516G>T |
p.Gln172His |
Missense |
6/13 |
- |
3 |
12-103249106-G-A |
c.514C>T |
p.Gln172* |
Nonsense |
6/13 |
- |
2 |
12-103249107-C-A |
c.513G>T |
p.Gly171Gly |
Synonymous |
6/13 |
- |
1 |
12-103249107-C-G |
c.513G>C |
p.Gly171Gly |
Synonymous |
6/13 |
- |
1 |
12-103249107-C-T |
c.513G>A |
p.Gly171Gly |
Synonymous |
6/13 |
- |
1 |
12-103249108-C-G |
c.512G>C |
p.Gly171Ala |
Missense |
6/13 |
- |
2 |
12-103249109-C-T |
c.511G>A |
p.Gly171Arg |
Missense |
6/13 |
- |
3 |
12-103249110-A-T |
c.510T>A |
p.His170Gln |
Missense |
6/13 |
- |
4 |
12-103249110-CACTAGAATACAGGCACAAAATAGGTGTCTCAAGCAGGGCAGGGGCACAGCAGAACGCAG-C |
c.510-58_510del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
6/13 |
5/12 |
1 |
12-103249111-C-G |
c.510-1G>C |
- |
IntronicSNV |
- |
5/12 |
1 |
12-103249111-C-T |
c.510-1G>A |
- |
IntronicSNV |
- |
5/12 |
2 |
12-103249112-T-C |
c.510-2A>G |
- |
IntronicSNV |
- |
5/12 |
2 |
12-103251675-C-T |
c.510-2565G>A |
- |
IntronicSNV |
- |
5/12 |
1 |
12-103253157-G-A |
c.510-4047C>T |
- |
IntronicSNV |
- |
5/12 |
1 |
12-103257308-T-C |
c.509+3066A>G |
- |
IntronicSNV |
- |
5/12 |
2 |
12-103257876-A-G |
c.509+2498T>C |
- |
IntronicSNV |
- |
5/12 |
1 |
12-103259201-TTACCCCATCAGAAAAATGAGAAGTTATTATTGAGGCTAAACAAAATGATATATACAAAG-T |
c.509+1115_509+1173del |
- |
Unclassified |
- |
5/12 |
2 |
12-103260273-T-G |
c.509+101A>C |
- |
IntronicSNV |
- |
5/12 |
2 |
12-103260369-C-T |
c.509+5G>A |
- |
IntronicSNV |
- |
5/12 |
1 |
12-103260373-C-T |
c.509+1G>A |
- |
IntronicSNV |
- |
5/12 |
2 |
12-103260374-CTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATC-C |
c.452_509+1del |
- |
Unclassified |
5/13 |
- |
1 |
12-103260374-T-C |
c.509A>G |
p.His170Arg |
Missense |
5/13 |
- |
4 |
12-103260374-T-G |
c.509A>C |
p.His170Pro |
Missense |
5/13 |
- |
2 |
12-103260375-G-C |
c.508C>G |
p.His170Asp |
Missense |
5/13 |
- |
4 |
12-103260376-GC-AA |
c.506_507delinsTT |
p.Arg169Leu |
Missense |
5/13 |
- |
1 |
12-103260377-C-T |
c.506G>A |
p.Arg169His |
Missense |
5/13 |
- |
9 |
12-103260378-G-A |
c.505C>T |
p.Arg169Cys |
Missense |
5/13 |
- |
4 |
12-103260378-G-C |
c.505C>G |
p.Arg169Gly |
Missense |
5/13 |
- |
2 |
12-103260378-G-T |
c.505C>A |
p.Arg169Ser |
Missense |
5/13 |
- |
5 |
12-103260379-G-T |
c.504C>A |
p.Tyr168* |
Nonsense |
5/13 |
- |
2 |
12-103260380-GT-G |
c.503del |
p.Tyr168Serfs*27 |
Frameshift |
5/13 |
- |
7 |
12-103260383-T-A |
c.500A>T |
p.Asn167Ile |
Missense |
5/13 |
- |
8 |
12-103260383-T-C |
c.500A>G |
p.Asn167Ser |
Missense |
5/13 |
- |
3 |
12-103260384-T-A |
c.499A>T |
p.Asn167Tyr |
Missense |
5/13 |
- |
1 |
12-103260385-G-C |
c.498C>G |
p.Tyr166* |
Nonsense |
5/13 |
- |
15 |
12-103260385-G-T |
c.498C>A |
p.Tyr166* |
Nonsense |
5/13 |
- |
8 |
12-103260386-T-C |
c.497A>G |
p.Tyr166Cys |
Missense |
5/13 |
- |
1 |
12-103260389-G-T |
c.494C>A |
p.Ala165Asp |
Missense |
5/13 |
- |
3 |
12-103260390-C-G |
c.493G>C |
p.Ala165Pro |
Missense |
5/13 |
- |
2 |
12-103260390-C-T |
c.493G>A |
p.Ala165Thr |
Missense |
5/13 |
- |
2 |
12-103260392-A-G |
c.491T>C |
p.Ile164Thr |
Missense |
5/13 |
- |
3 |
12-103260393-T-C |
c.490A>G |
p.Ile164Val |
Missense |
5/13 |
- |
4 |
12-103260397-A-C |
c.486T>G |
p.Ala162Ala |
Synonymous |
5/13 |
- |
1 |
12-103260397-A-G |
c.486T>C |
p.Ala162Ala |
Synonymous |
5/13 |
- |
1 |
12-103260397-A-T |
c.486T>A |
p.Ala162Ala |
Synonymous |
5/13 |
- |
1 |
12-103260398-G-A |
c.485C>T |
p.Ala162Val |
Missense |
5/13 |
- |
1 |
12-103260399-C-A |
c.484G>T |
p.Ala162Ser |
Missense |
5/13 |
- |
1 |
12-103260399-C-G |
c.484G>C |
p.Ala162Pro |
Missense |
5/13 |
- |
1 |
12-103260401-A-G |
c.482T>C |
p.Phe161Ser |
Missense |
5/13 |
- |
11 |
12-103260404-T-G |
c.479A>C |
p.Gln160Pro |
Missense |
5/13 |
- |
2 |
12-103260405-G-A |
c.478C>T |
p.Gln160* |
Nonsense |
5/13 |
- |
3 |
12-103260410-C-A |
c.473G>T |
p.Arg158Leu |
Missense |
5/13 |
- |
2 |
12-103260410-C-G |
c.473G>C |
p.Arg158Pro |
Missense |
5/13 |
- |
2 |
12-103260410-C-T |
c.473G>A |
p.Arg158Gln |
Missense |
5/13 |
- |
45 |
12-103260411-G-A |
c.472C>T |
p.Arg158Trp |
Missense |
5/13 |
- |
10 |
12-103260412-TC-AC |
c.471delinsT |
p.Arg157Ser |
Missense |
5/13 |
- |
5 |
12-103260413-C-A |
c.470G>T |
p.Arg157Ile |
Missense |
5/13 |
- |
1 |
12-103260413-C-T |
c.470G>A |
p.Arg157Lys |
Missense |
5/13 |
- |
4 |
12-103260417-C-G |
c.466G>C |
p.Ala156Pro |
Missense |
5/13 |
- |
5 |
12-103260419-C-G |
c.464G>C |
p.Arg155Pro |
Missense |
5/13 |
- |
3 |
12-103260419-C-T |
c.464G>A |
p.Arg155His |
Missense |
5/13 |
- |
8 |
12-103260420-G-A |
c.463C>T |
p.Arg155Cys |
Missense |
5/13 |
- |
1 |
12-103260421-GG-G |
c.463del |
p.Arg155Valfs*40 |
Frameshift |
5/13 |
- |
1 |
12-103260421-G-T |
c.462C>A |
p.Tyr154* |
Nonsense |
5/13 |
- |
1 |
12-103260422-T-A |
c.461A>T |
p.Tyr154Phe |
Missense |
5/13 |
- |
1 |
12-103260422-T-C |
c.461A>G |
p.Tyr154Cys |
Missense |
5/13 |
- |
1 |
12-103260423-A-G |
c.460T>C |
p.Tyr154His |
Missense |
5/13 |
- |
4 |
12-103260423-A-T |
c.460T>A |
p.Tyr154Asn |
Missense |
5/13 |
- |
1 |
12-103260424-AC-A |
c.459del |
p.Tyr154Thrfs*41 |
Frameshift |
5/13 |
- |
1 |
12-103260425-A-G |
c.458T>C |
p.Val153Ala |
Missense |
5/13 |
- |
1 |
12-103260427-A-G |
c.456T>C |
p.Pro152Pro |
Synonymous |
5/13 |
- |
1 |
12-103260427-A-T |
c.456T>A |
p.Pro152Pro |
Synonymous |
5/13 |
- |
1 |
12-103260428-G-A |
c.455C>T |
p.Pro152Leu |
Missense |
5/13 |
- |
1 |
12-103260430-A-T |
c.453T>A |
p.Asp151Glu |
Missense |
5/13 |
- |
2 |
12-103260431-T-C |
c.452A>G |
p.Asp151Gly |
Missense |
5/13 |
- |
1 |
12-103260432-C-G |
c.451G>C |
p.Asp151His |
Missense |
5/13 |
- |
1 |
12-103260436-A-G |
c.447T>C |
p.Phe149Phe |
Synonymous |
5/13 |
- |
1 |
12-103260440-C-A |
c.443G>T |
p.Gly148Val |
Missense |
5/13 |
- |
2 |
12-103260441-C-G |
c.442G>C |
p.Gly148Arg |
Missense |
5/13 |
- |
2 |
12-103260441-C-T |
c.442G>A |
p.Gly148Ser |
Missense |
5/13 |
- |
2 |
12-103260442-C-G |
c.442-1G>C |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103260442-C-T |
c.442-1G>A |
- |
IntronicSNV |
- |
4/12 |
16 |
12-103260446-G-C |
c.442-5C>G |
- |
IntronicSNV |
- |
4/12 |
3 |
12-103260455-G-A |
c.442-14C>T |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103260608-T-C |
c.442-167A>G |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103260608-T-G |
c.442-167A>C |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103260634-T-C |
c.442-193A>G |
- |
IntronicSNV |
- |
4/12 |
2 |
12-103260819-T-C |
c.442-378A>G |
- |
IntronicSNV |
- |
4/12 |
2 |
12-103271193-G-A |
c.441+47C>T |
- |
IntronicSNV |
- |
4/12 |
3 |
12-103271235-C-A |
c.441+5G>T |
- |
IntronicSNV |
- |
4/12 |
15 |
12-103271235-C-T |
c.441+5G>A |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103271237-C-G |
c.441+3G>C |
- |
IntronicSNV |
- |
4/12 |
2 |
12-103271238-A-C |
c.441+2T>G |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103271238-A-G |
c.441+2T>C |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103271238-A-T |
c.441+2T>A |
- |
IntronicSNV |
- |
4/12 |
1 |
12-103271239-AC-A |
c.441+1del |
- |
IntronicDeletion |
- |
4/12 |
1 |
12-103271239-C-G |
c.441+1G>C |
- |
IntronicSNV |
- |
4/12 |
2 |
12-103271239-C-T |
c.441+1G>A |
- |
IntronicSNV |
- |
4/12 |
4 |
12-103271240-A-G |
c.441T>C |
p.Pro147Pro |
Synonymous |
4/13 |
- |
1 |
12-103271241-G-A |
c.440C>T |
p.Pro147Leu |
Missense |
4/13 |
- |
5 |
12-103271241-G-T |
c.440C>A |
p.Pro147His |
Missense |
4/13 |
- |
1 |
12-103271242-G-A |
c.439C>T |
p.Pro147Ser |
Missense |
4/13 |
- |
3 |
12-103271243-G-A |
c.438C>T |
p.His146His |
Synonymous |
4/13 |
- |
1 |
12-103271245-G-A |
c.436C>T |
p.His146Tyr |
Missense |
4/13 |
- |
1 |
12-103271247-T-A |
c.434A>T |
p.Asp145Val |
Missense |
4/13 |
- |
6 |
12-103271253-T-A |
c.428A>T |
p.Asp143Val |
Missense |
4/13 |
- |
1 |
12-103271253-T-C |
c.428A>G |
p.Asp143Gly |
Missense |
4/13 |
- |
2 |
12-103271254-C-T |
c.427G>A |
p.Asp143Asn |
Missense |
4/13 |
- |
1 |
12-103271256-AG-GC |
c.424_425delinsGC |
p.Leu142Ala |
Missense |
4/13 |
- |
1 |
12-103271262-G-A |
c.419C>T |
p.Ala140Val |
Missense |
4/13 |
- |
1 |
12-103271262-G-T |
c.419C>A |
p.Ala140Glu |
Missense |
4/13 |
- |
1 |
12-103271265-C-T |
c.416G>A |
p.Gly139Glu |
Missense |
4/13 |
- |
1 |
12-103271267-A-C |
c.414T>G |
p.Tyr138* |
Nonsense |
4/13 |
- |
1 |
12-103271267-A-T |
c.414T>A |
p.Tyr138* |
Nonsense |
4/13 |
- |
1 |
12-103271267-ATA-AAG |
c.412_413delinsCT |
p.Tyr138Leu |
Missense |
4/13 |
- |
1 |
12-103271267-ATA-GAG |
c.412_414delinsCTC |
p.Tyr138Leu |
Missense |
4/13 |
- |
1 |
12-103271268-T-A |
c.413A>T |
p.Tyr138Phe |
Missense |
4/13 |
- |
2 |
12-103271268-TA-GC |
c.412_413delinsGC |
p.Tyr138Ala |
Missense |
4/13 |
- |
1 |
12-103271274-A-G |
c.407T>C |
p.Leu136Pro |
Missense |
4/13 |
- |
1 |
12-103271281-G-A |
c.400C>T |
p.Gln134* |
Nonsense |
4/13 |
- |
1 |
12-103271282-A-G |
c.399T>C |
p.Asn133Asn |
Synonymous |
4/13 |
- |
1 |
12-103271282-GA-G |
c.399del |
p.Gln134Argfs*61 |
Frameshift |
4/13 |
- |
1 |
12-103271282-GATTG-G |
c.398_401del |
p.Asn133Argfs*61 |
Frameshift |
4/13 |
- |
2 |
12-103271288-A-C |
c.393T>G |
p.Phe131Leu |
Missense |
4/13 |
- |
1 |
12-103271288-A-T |
c.393T>A |
p.Phe131Leu |
Missense |
4/13 |
- |
1 |
12-103271290-A-G |
c.391T>C |
p.Phe131Leu |
Missense |
4/13 |
- |
1 |
12-103271295-T-C |
c.386A>G |
p.Asp129Gly |
Missense |
4/13 |
- |
5 |
12-103271300-C-A |
c.381G>T |
p.Glu127Asp |
Missense |
4/13 |
- |
1 |
12-103271300-C-G |
c.381G>C |
p.Glu127Asp |
Missense |
4/13 |
- |
1 |
12-103271300-GC-G |
c.381del |
p.Glu127Aspfs*68 |
Frameshift |
4/13 |
- |
1 |
12-103271301-T-C |
c.380A>G |
p.Glu127Gly |
Missense |
4/13 |
- |
1 |
12-103271302-C-T |
c.379G>A |
p.Glu127Lys |
Missense |
4/13 |
- |
1 |
12-103271304-T-C |
c.377A>G |
p.Gln126Arg |
Missense |
4/13 |
- |
2 |
12-103271305-G-A |
c.376C>T |
p.Gln126* |
Nonsense |
4/13 |
- |
1 |
12-103271307-A-G |
c.374T>C |
p.Ile125Thr |
Missense |
4/13 |
- |
1 |
12-103271308-T-A |
c.373A>T |
p.Ile125Phe |
Missense |
4/13 |
- |
1 |
12-103271310-G-A |
c.371C>T |
p.Thr124Ile |
Missense |
4/13 |
- |
1 |
12-103271311-T-C |
c.370A>G |
p.Thr124Ala |
Missense |
4/13 |
- |
1 |
12-103271317-G-A |
c.364C>T |
p.Pro122Ser |
Missense |
4/13 |
- |
1 |
12-103271320-A-C |
c.361T>G |
p.Phe121Val |
Missense |
4/13 |
- |
2 |
12-103271320-A-G |
c.361T>C |
p.Phe121Leu |
Missense |
4/13 |
- |
2 |
12-103271322-C-T |
c.359G>A |
p.Trp120* |
Nonsense |
4/13 |
- |
1 |
12-103271323-CA-C |
c.358del |
p.Trp120Glyfs*75 |
Frameshift |
4/13 |
- |
1 |
12-103271325-G-A |
c.356C>T |
p.Pro119Leu |
Missense |
4/13 |
- |
1 |
12-103271325-G-C |
c.356C>G |
p.Pro119Arg |
Missense |
4/13 |
- |
1 |
12-103271326-G-A |
c.355C>T |
p.Pro119Ser |
Missense |
4/13 |
- |
5 |
12-103271330-T-A |
c.353-2A>T |
- |
IntronicSNV |
- |
3/12 |
2 |
12-103271330-T-C |
c.353-2A>G |
- |
IntronicSNV |
- |
3/12 |
3 |
12-103271350-G-A |
c.353-22C>T |
- |
IntronicSNV |
- |
3/12 |
5 |
12-103271350-G-T |
c.353-22C>A |
- |
IntronicSNV |
- |
3/12 |
2 |
12-103272322-C-G |
c.353-994G>C |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103275901-C-T |
c.353-4573G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103276553-T-A |
c.353-5225A>T |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103278745-C-T |
c.353-7417G>A |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103279257-G-A |
c.353-7929C>T |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103280756-G-A |
c.352+7757C>T |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103280756-G-C |
c.352+7757C>G |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103282931-T-A |
c.352+5582A>T |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103282952-T-C |
c.352+5561A>G |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103283972-A-G |
c.352+4541T>C |
- |
IntronicSNV |
- |
3/12 |
2 |
12-103285043-A-T |
c.352+3470T>A |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103287067-A-G |
c.352+1446T>C |
- |
IntronicSNV |
- |
3/12 |
1 |
12-103288515-G-A |
c.350C>T |
p.Thr117Ile |
Missense |
3/13 |
- |
3 |
12-103288515-TG-T |
c.350del |
p.Thr117Lysfs*78 |
Frameshift |
3/13 |
- |
1 |
12-103288518-T-A |
c.347A>T |
p.Asp116Val |
Missense |
3/13 |
- |
2 |
12-103288521-T-C |
c.344A>G |
p.Lys115Arg |
Missense |
3/13 |
- |
1 |
12-103288522-TTCTT-T |
c.344_347del |
p.Lys115Thrfs*79 |
Frameshift |
3/13 |
- |
1 |
12-103288525-TTCTT-T |
c.338_341del |
p.Lys113Argfs*81 |
Frameshift |
3/13 |
- |
1 |
12-103288530-AT-A |
c.335del |
p.Asp112Valfs*83 |
Frameshift |
3/13 |
- |
1 |
12-103288530-T-TT |
c.335dup |
p.Asp112Glufs*2 |
Frameshift |
3/13 |
- |
1 |
12-103288532-TC-AT |
c.332_333delinsAT |
p.Arg111His |
Missense |
3/13 |
- |
1 |
12-103288533-CG-AC |
c.331_332delinsGT |
p.Arg111Val |
Missense |
3/13 |
- |
1 |
12-103288534-G-A |
c.331C>T |
p.Arg111* |
Nonsense |
3/13 |
- |
32 |
12-103288535-T-A |
c.330A>T |
p.Ser110Ser |
Synonymous |
3/13 |
- |
1 |
12-103288536-G-A |
c.329C>T |
p.Ser110Leu |
Missense |
3/13 |
- |
1 |
12-103288537-GAAAGC-G |
c.324_328del |
p.Glu108Aspfs*4 |
Frameshift |
3/13 |
- |
1 |
12-103288543-C-T |
c.322G>A |
p.Glu108Lys |
Missense |
3/13 |
- |
1 |
12-103288545-T-C |
c.320A>G |
p.His107Arg |
Missense |
3/13 |
- |
6 |
12-103288547-GGACAGTGGC-G |
c.310_318del |
p.Ala104_Val106del |
InFrameDeletion |
3/13 |
- |
2 |
12-103288547-GGAC-G |
c.316_318del |
p.Val106del |
InFrameDeletion |
3/13 |
- |
1 |
12-103288548-A-G |
c.317T>C |
p.Val106Ala |
Missense |
3/13 |
- |
4 |
12-103288549-C-G |
c.316G>C |
p.Val106Leu |
Missense |
3/13 |
- |
1 |
12-103288551-AG-A |
c.314del |
p.Thr105Metfs*90 |
Frameshift |
3/13 |
- |
1 |
12-103288554-G-A |
c.311C>T |
p.Ala104Val |
Missense |
3/13 |
- |
1 |
12-103288554-G-T |
c.311C>A |
p.Ala104Asp |
Missense |
3/13 |
- |
18 |
12-103288555-C-A |
c.310G>T |
p.Ala104Ser |
Missense |
3/13 |
- |
1 |
12-103288557-C-T |
c.308G>A |
p.Gly103Asp |
Missense |
3/13 |
- |
3 |
12-103288558-C-A |
c.307G>T |
p.Gly103Cys |
Missense |
3/13 |
- |
2 |
12-103288558-C-T |
c.307G>A |
p.Gly103Ser |
Missense |
3/13 |
- |
1 |
12-103288560-A-G |
c.305T>C |
p.Ile102Thr |
Missense |
3/13 |
- |
1 |
12-103288562-TG-T |
c.303del |
p.Asp101Glufs*94 |
Frameshift |
3/13 |
- |
1 |
12-103288564-C-T |
c.301G>A |
p.Asp101Asn |
Missense |
3/13 |
- |
3 |
12-103288566-T-C |
c.299A>G |
p.His100Arg |
Missense |
3/13 |
- |
5 |
12-103288569-C-A |
c.296G>T |
p.Arg99Met |
Missense |
3/13 |
- |
1 |
12-103288569-C-T |
c.296G>A |
p.Arg99Lys |
Missense |
3/13 |
- |
1 |
12-103288572-A-G |
c.293T>C |
p.Leu98Ser |
Missense |
3/13 |
- |
2 |
12-103288573-A-C |
c.292T>G |
p.Leu98Val |
Missense |
3/13 |
- |
3 |
12-103288576-T-C |
c.289A>G |
p.Ile97Val |
Missense |
3/13 |
- |
1 |
12-103288576-T-G |
c.289A>C |
p.Ile97Leu |
Missense |
3/13 |
- |
4 |
12-103288580-G-A |
c.285C>T |
p.Ile95Ile |
Synonymous |
3/13 |
- |
1 |
12-103288584-A-C |
c.281T>G |
p.Ile94Ser |
Missense |
3/13 |
- |
2 |
12-103288584-GATG-G |
c.284_286del |
p.Ile95del |
InFrameDeletion |
3/13 |
- |
10 |
12-103288585-T-C |
c.280A>G |
p.Ile94Val |
Missense |
3/13 |
- |
4 |
12-103288589-T-G |
c.276A>C |
p.Thr92Thr |
Synonymous |
3/13 |
- |
1 |
12-103288590-G-A |
c.275C>T |
p.Thr92Ile |
Missense |
3/13 |
- |
3 |
12-103288591-GT-G |
c.274del |
p.Thr92Glnfs*7 |
Frameshift |
3/13 |
- |
1 |
12-103288598-A-AC |
c.266_267insG |
p.Ala90Cysfs*12 |
Frameshift |
3/13 |
- |
1 |
12-103288600-G-A |
c.265C>T |
p.Pro89Ser |
Missense |
3/13 |
- |
2 |
12-103288600-G-GG |
c.266dup |
p.Ala90Cysfs*12 |
Frameshift |
3/13 |
- |
3 |
12-103288600-G-T |
c.265C>A |
p.Pro89Thr |
Missense |
3/13 |
- |
1 |
12-103288601-CAG-TTT |
c.262_264delinsAAA |
p.Leu88Lys |
Missense |
3/13 |
- |
1 |
12-103288604-G-T |
c.261C>A |
p.Ser87Arg |
Missense |
3/13 |
- |
4 |
12-103288608-C-T |
c.257G>A |
p.Arg86His |
Missense |
3/13 |
- |
1 |
12-103288609-G-A |
c.256C>T |
p.Arg86Cys |
Missense |
3/13 |
- |
2 |
12-103288610-GTTTATCCAAATGGGTG-G |
c.241_256del |
p.Thr81Valfs*6 |
Frameshift |
3/13 |
- |
1 |
12-103288612-T-A |
c.253A>T |
p.Lys85* |
Nonsense |
3/13 |
- |
1 |
12-103288613-ATC-TGG |
c.250_252delinsCCA |
p.Asp84Pro |
Missense |
3/13 |
- |
1 |
12-103288615-C-A |
c.250G>T |
p.Asp84Tyr |
Missense |
3/13 |
- |
5 |
12-103288621-G-A |
c.244C>T |
p.His82Tyr |
Missense |
3/13 |
- |
1 |
12-103288623-G-T |
c.242C>A |
p.Thr81Asn |
Missense |
3/13 |
- |
1 |
12-103288624-T-G |
c.241A>C |
p.Thr81Pro |
Missense |
3/13 |
- |
2 |
12-103288632-T-A |
c.233A>T |
p.Glu78Val |
Missense |
3/13 |
- |
1 |
12-103288632-TTCAT-T |
c.232_235del |
p.Glu78Phefs*13 |
Frameshift |
3/13 |
- |
2 |
12-103288633-C-G |
c.232G>C |
p.Glu78Gln |
Missense |
3/13 |
- |
1 |
12-103288633-C-T |
c.232G>A |
p.Glu78Lys |
Missense |
3/13 |
- |
3 |
12-103288634-A-C |
c.231T>G |
p.Tyr77* |
Nonsense |
3/13 |
- |
2 |
12-103288636-A-G |
c.229T>C |
p.Tyr77His |
Missense |
3/13 |
- |
2 |
12-103288637-C-A |
c.228G>T |
p.Glu76Asp |
Missense |
3/13 |
- |
1 |
12-103288637-C-G |
c.228G>C |
p.Glu76Asp |
Missense |
3/13 |
- |
1 |
12-103288638-T-C |
c.227A>G |
p.Glu76Gly |
Missense |
3/13 |
- |
2 |
12-103288638-T-G |
c.227A>C |
p.Glu76Ala |
Missense |
3/13 |
- |
2 |
12-103288639-C-A |
c.226G>T |
p.Glu76* |
Nonsense |
3/13 |
- |
1 |
12-103288639-C-G |
c.226G>C |
p.Glu76Gln |
Missense |
3/13 |
- |
1 |
12-103288639-C-T |
c.226G>A |
p.Glu76Lys |
Missense |
3/13 |
- |
1 |
12-103288641-T-A |
c.224A>T |
p.Asp75Val |
Missense |
3/13 |
- |
2 |
12-103288641-T-C |
c.224A>G |
p.Asp75Gly |
Missense |
3/13 |
- |
1 |
12-103288642-C-G |
c.223G>C |
p.Asp75His |
Missense |
3/13 |
- |
1 |
12-103288642-C-T |
c.223G>A |
p.Asp75Asn |
Missense |
3/13 |
- |
1 |
12-103288649-TA-GG |
c.215_216delinsCC |
p.Leu72Ser |
Missense |
3/13 |
- |
2 |
12-103288653-C-T |
c.212G>A |
p.Arg71His |
Missense |
3/13 |
- |
3 |
12-103288656-G-A |
c.209C>T |
p.Ser70Phe |
Missense |
3/13 |
- |
1 |
12-103288656-GA-CT |
c.208_209delinsAG |
p.Ser70Ser |
Missense |
3/13 |
- |
1 |
12-103288657-A-G |
c.208T>C |
p.Ser70Pro |
Missense |
3/13 |
- |
1 |
12-103288657-GAAG-G |
c.208_210del |
p.Ser70del |
InFrameDeletion |
3/13 |
- |
13 |
12-103288660-G-A |
c.205C>T |
p.Pro69Ser |
Missense |
3/13 |
- |
2 |
12-103288660-G-GG |
c.206dup |
p.Ser70Phefs*7 |
Frameshift |
3/13 |
- |
2 |
12-103288661-T-A |
c.204A>T |
p.Arg68Ser |
Missense |
3/13 |
- |
20 |
12-103288662-C-T |
c.203G>A |
p.Arg68Lys |
Missense |
3/13 |
- |
1 |
12-103288663-CTA-C |
c.201_202del |
p.Arg68Thrfs*8 |
Frameshift |
3/13 |
- |
1 |
12-103288664-A-C |
c.201T>G |
p.Ser67Ser |
Synonymous |
3/13 |
- |
1 |
12-103288664-TAGATTCAA-T |
c.194_201del |
p.Ile65Lysfs*9 |
Frameshift |
3/13 |
- |
1 |
12-103288665-G-A |
c.200C>T |
p.Ser67Phe |
Missense |
3/13 |
- |
1 |
12-103288666-A-G |
c.199T>C |
p.Ser67Pro |
Missense |
3/13 |
- |
5 |
12-103288669-C-A |
c.196G>T |
p.Glu66* |
Nonsense |
3/13 |
- |
2 |
12-103288671-A-C |
c.194T>G |
p.Ile65Ser |
Missense |
3/13 |
- |
7 |
12-103288671-A-G |
c.194T>C |
p.Ile65Thr |
Missense |
3/13 |
- |
43 |
12-103288671-A-T |
c.194T>A |
p.Ile65Asn |
Missense |
3/13 |
- |
3 |
12-103288672-T-C |
c.193A>G |
p.Ile65Val |
Missense |
3/13 |
- |
3 |
12-103288673-G-A |
c.192C>T |
p.His64His |
Synonymous |
3/13 |
- |
1 |
12-103288673-G-C |
c.192C>G |
p.His64Gln |
Missense |
3/13 |
- |
1 |
12-103288673-G-T |
c.192C>A |
p.His64Gln |
Missense |
3/13 |
- |
1 |
12-103288673-GTG-TAA |
c.190_192delinsTTA |
p.His64Leu |
Nonsense |
3/13 |
- |
1 |
12-103288674-T-A |
c.191A>T |
p.His64Leu |
Missense |
3/13 |
- |
1 |
12-103288675-GGGT-TGGG |
c.187_190delinsCCCA |
p.Thr63_His64delinsProAsn |
MultiAAMissense |
3/13 |
- |
1 |
12-103288675-G-T |
c.190C>A |
p.His64Asn |
Missense |
3/13 |
- |
2 |
12-103288677-GG-G |
c.190del |
p.His64Thrfs*9 |
Frameshift |
3/13 |
- |
1 |
12-103288678-T-C |
c.187A>G |
p.Thr63Ala |
Missense |
3/13 |
- |
1 |
12-103288678-T-G |
c.187A>C |
p.Thr63Pro |
Missense |
3/13 |
- |
6 |
12-103288679-C-A |
c.186G>T |
p.Leu62Leu |
Synonymous |
3/13 |
- |
1 |
12-103288679-TCAGGT-T |
c.185_189del |
p.Leu62Profs*3 |
Frameshift |
3/13 |
- |
1 |
12-103288681-G-C |
c.184C>G |
p.Leu62Val |
Missense |
3/13 |
- |
1 |
12-103288682-G-C |
c.183C>G |
p.Asn61Lys |
Missense |
3/13 |
- |
2 |
12-103288682-GG-G |
c.184del |
p.Leu62* |
Frameshift |
3/13 |
- |
1 |
12-103288682-G-T |
c.183C>A |
p.Asn61Lys |
Missense |
3/13 |
- |
2 |
12-103288684-T-C |
c.181A>G |
p.Asn61Asp |
Missense |
3/13 |
- |
1 |
12-103288689-T-A |
c.176A>T |
p.Asp59Val |
Missense |
3/13 |
- |
2 |
12-103288689-TC-TT |
c.175delinsA |
p.Asp59Asn |
Missense |
3/13 |
- |
1 |
12-103288690-C-A |
c.175G>T |
p.Asp59Tyr |
Missense |
3/13 |
- |
2 |
12-103288695-CTC-C |
c.171_172del |
p.Asn58* |
SpliceAcceptorDeletion |
3/13 |
- |
1 |
12-103288696-C-A |
c.169G>T |
p.Glu57* |
Nonsense |
3/13 |
- |
2 |
12-103288696-C-T |
c.169G>A |
p.Glu57Lys |
Missense |
3/13 |
- |
2 |
12-103288696-TCCT-T |
c.169_171del |
p.Glu57del |
InFrameDeletion |
3/13 |
2/12 |
2 |
12-103288698-T-C |
c.169-2A>G |
- |
IntronicSNV |
- |
2/12 |
1 |
12-103298371-T-A |
c.168+8198A>T |
- |
IntronicSNV |
- |
2/12 |
1 |
12-103298517-A-C |
c.168+8052T>G |
- |
IntronicSNV |
- |
2/12 |
3 |
12-103298517-A-G |
c.168+8052T>C |
- |
IntronicSNV |
- |
2/12 |
3 |
12-103298517-A-T |
c.168+8052T>A |
- |
IntronicSNV |
- |
2/12 |
3 |
12-103305409-G-A |
c.168+1160C>T |
- |
IntronicSNV |
- |
2/12 |
1 |
12-103306550-A-G |
c.168+19T>C |
- |
IntronicSNV |
- |
2/12 |
4 |
12-103306564-C-G |
c.168+5G>C |
- |
IntronicSNV |
- |
2/12 |
15 |
12-103306564-C-T |
c.168+5G>A |
- |
IntronicSNV |
- |
2/12 |
4 |
12-103306567-A-G |
c.168+2T>C |
- |
IntronicSNV |
- |
2/12 |
1 |
12-103306568-C-A |
c.168+1G>T |
- |
IntronicSNV |
- |
2/12 |
1 |
12-103306568-C-T |
c.168+1G>A |
- |
IntronicSNV |
- |
2/12 |
3 |
12-103306569-C-A |
c.168G>T |
p.Glu56Asp |
Missense |
2/13 |
- |
7 |
12-103306569-C-T |
c.168G>A |
p.Glu56Glu |
Synonymous |
2/13 |
- |
1 |
12-103306571-C-T |
c.166G>A |
p.Glu56Lys |
Missense |
2/13 |
- |
2 |
12-103306572-CAAA-C |
c.163_165del |
p.Phe55del |
InFrameDeletion |
2/13 |
- |
1 |
12-103306573-A-G |
c.164T>C |
p.Phe55Ser |
Missense |
2/13 |
- |
1 |
12-103306572-A-C |
c.165T>G |
p.Phe55Leu |
Missense |
2/13 |
- |
8 |
12-103306574-AA-A |
c.165del |
p.Phe55Leufs*6 |
Frameshift |
2/13 |
- |
11 |
12-103306576-AA-GC |
c.160_161delinsGC |
p.Leu54Ala |
Missense |
2/13 |
- |
1 |
12-103306576-A-G |
c.161T>C |
p.Leu54Ser |
Missense |
2/13 |
- |
1 |
12-103306577-A-G |
c.160T>C |
p.Leu54Leu |
Synonymous |
2/13 |
- |
1 |
12-103306578-G-A |
c.159C>T |
p.Arg53Arg |
Synonymous |
2/13 |
- |
1 |
12-103306578-G-C |
c.159C>G |
p.Arg53Arg |
Synonymous |
2/13 |
- |
1 |
12-103306578-G-T |
c.159C>A |
p.Arg53Arg |
Synonymous |
2/13 |
- |
1 |
12-103306579-C-G |
c.158G>C |
p.Arg53Pro |
Missense |
2/13 |
- |
1 |
12-103306579-C-T |
c.158G>A |
p.Arg53His |
Missense |
2/13 |
- |
19 |
12-103306580-CGC-C |
c.158_159del |
p.Arg53Leufs*3 |
Frameshift |
2/13 |
- |
1 |
12-103306580-G-A |
c.157C>T |
p.Arg53Cys |
Missense |
2/13 |
- |
1 |
12-103306582-A-G |
c.155T>C |
p.Leu52Ser |
Missense |
2/13 |
- |
3 |
12-103306583-AA-A |
c.155del |
p.Leu52Cysfs*9 |
Frameshift |
2/13 |
- |
2 |
12-103306589-T-C |
c.148A>G |
p.Lys50Glu |
Missense |
2/13 |
- |
1 |
12-103306594-A-G |
c.143T>C |
p.Leu48Ser |
Missense |
2/13 |
- |
48 |
12-103306595-A-AA |
c.143dup |
p.Leu48Phefs*9 |
Frameshift |
2/13 |
- |
1 |
12-103306597-G-A |
c.140C>T |
p.Ala47Val |
Missense |
2/13 |
- |
3 |
12-103306597-G-T |
c.140C>A |
p.Ala47Glu |
Missense |
2/13 |
- |
2 |
12-103306598-C-T |
c.139G>A |
p.Ala47Thr |
Missense |
2/13 |
- |
1 |
12-103306601-CC-C |
c.137del |
p.Gly46Valfs*15 |
Frameshift |
2/13 |
- |
1 |
12-103306601-C-T |
c.136G>A |
p.Gly46Ser |
Missense |
2/13 |
- |
15 |
12-103306602-A-C |
c.135T>G |
p.Val45Val |
Synonymous |
2/13 |
- |
1 |
12-103306602-A-G |
c.135T>C |
p.Val45Val |
Synonymous |
2/13 |
- |
1 |
12-103306602-A-T |
c.135T>A |
p.Val45Val |
Synonymous |
2/13 |
- |
1 |
12-103306603-A-G |
c.134T>C |
p.Val45Ala |
Missense |
2/13 |
- |
1 |
12-103306610-C-A |
c.127G>T |
p.Glu43* |
Nonsense |
2/13 |
- |
2 |
12-103306610-TCTT-T |
c.131_133del |
p.Glu44del |
InFrameDeletion |
2/13 |
- |
1 |
12-103306611-CTTT-C |
c.124_126del |
p.Lys42del |
InFrameDeletion |
2/13 |
- |
1 |
12-103306612-T-A |
c.125A>T |
p.Lys42Ile |
Missense |
2/13 |
- |
3 |
12-103306613-T-C |
c.124A>G |
p.Lys42Glu |
Missense |
2/13 |
- |
1 |
12-103306615-A-G |
c.122T>C |
p.Leu41Pro |
Missense |
2/13 |
- |
1 |
12-103306616-G-A |
c.121C>T |
p.Leu41Phe |
Missense |
2/13 |
- |
3 |
12-103306617-GTGA-G |
c.118_120del |
p.Ser40del |
InFrameDeletion |
2/13 |
- |
1 |
12-103306617-TGA-CAT |
c.118_120delinsATG |
p.Ser40Met |
Missense |
2/13 |
- |
2 |
12-103306618-G-A |
c.119C>T |
p.Ser40Leu |
Missense |
2/13 |
- |
2 |
12-103306620-G-C |
c.117C>G |
p.Phe39Leu |
Missense |
2/13 |
- |
17 |
12-103306621-A-C |
c.116T>G |
p.Phe39Cys |
Missense |
2/13 |
- |
1 |
12-103306622-AAGA-A |
c.116_118del |
p.Phe39del |
InFrameDeletion |
2/13 |
- |
16 |
12-103306624-AT-CC |
c.112_113delinsGG |
p.Ile38Gly |
Missense |
2/13 |
- |
1 |
12-103306626-C-CC |
c.111dup |
p.Ile38Aspfs*19 |
Frameshift |
2/13 |
- |
1 |
12-103306630-G-T |
c.107C>A |
p.Ser36* |
Nonsense |
2/13 |
- |
1 |
12-103306631-A-ACG |
c.105_106insCG |
p.Ser36Argfs*3 |
Frameshift |
2/13 |
- |
1 |
12-103306631-A-T |
c.106T>A |
p.Ser36Thr |
Missense |
2/13 |
- |
1 |
12-103306635-G-A |
c.102C>T |
p.Ala34Ala |
Synonymous |
2/13 |
- |
1 |
12-103306635-G-C |
c.102C>G |
p.Ala34Ala |
Synonymous |
2/13 |
- |
1 |
12-103306635-G-T |
c.102C>A |
p.Ala34Ala |
Synonymous |
2/13 |
- |
1 |
12-103306643-T-TA |
c.93_94insT |
p.Asn32* |
Nonsense |
2/13 |
- |
1 |
12-103306651-CA-GA |
c.86delinsC |
p.Cys29Ser |
Missense |
2/13 |
- |
1 |
12-103306651-C-G |
c.86G>C |
p.Cys29Ser |
Missense |
2/13 |
- |
1 |
12-103306652-A-G |
c.85T>C |
p.Cys29Arg |
Missense |
2/13 |
- |
1 |
12-103306652-A-T |
c.85T>A |
p.Cys29Ser |
Missense |
2/13 |
- |
1 |
12-103306661-TCAATA-T |
c.72_76del |
p.Tyr24* |
Frameshift |
2/13 |
- |
1 |
12-103306663-A-G |
c.74T>C |
p.Ile25Thr |
Missense |
2/13 |
- |
1 |
12-103306666-T-A |
c.71A>T |
p.Tyr24Phe |
Missense |
2/13 |
- |
1 |
12-103306666-T-C |
c.71A>G |
p.Tyr24Cys |
Missense |
2/13 |
- |
1 |
12-103306669-CT-GC |
c.67_68delinsGC |
p.Ser23Ala |
Missense |
2/13 |
- |
2 |
12-103306671-T-C |
c.66A>G |
p.Thr22Thr |
Synonymous |
2/13 |
- |
1 |
12-103306672-G-T |
c.65C>A |
p.Thr22Lys |
Missense |
2/13 |
- |
2 |
12-103306672-GT-GG |
c.64delinsC |
p.Thr22Pro |
Missense |
2/13 |
- |
2 |
12-103306674-T-G |
c.63A>C |
p.Glu21Asp |
Missense |
2/13 |
- |
1 |
12-103306679-A-G |
c.61-3T>C |
- |
IntronicSNV |
- |
1/12 |
2 |
12-103310715-T-C |
c.60+134A>G |
- |
IntronicSNV |
- |
1/12 |
1 |
12-103310787-G-A |
c.60+62C>T |
- |
IntronicSNV |
- |
1/12 |
4 |
12-103310787-G-C |
c.60+62C>G |
- |
IntronicSNV |
- |
1/12 |
3 |
12-103310844-C-A |
c.60+5G>T |
- |
IntronicSNV |
- |
1/12 |
7 |
12-103310844-C-T |
c.60+5G>A |
- |
IntronicSNV |
- |
1/12 |
1 |
12-103310849-C-G |
c.60G>C |
p.Gln20His |
Missense |
1/13 |
- |
3 |
12-103310850-T-A |
c.59A>T |
p.Gln20Leu |
Missense |
1/13 |
- |
1 |
12-103310850-T-G |
c.59A>C |
p.Gln20Pro |
Missense |
1/13 |
- |
2 |
12-103310851-G-A |
c.58C>T |
p.Gln20* |
Nonsense |
1/13 |
- |
3 |
12-103310856-AA-GC |
c.52_53delinsGC |
p.Phe18Ala |
Missense |
1/13 |
- |
3 |
12-103310858-G-C |
c.51C>G |
p.Asp17Glu |
Missense |
1/13 |
- |
1 |
12-103310859-TC-AG |
c.49_50delinsCT |
p.Asp17Leu |
Missense |
1/13 |
- |
1 |
12-103310861-A-AA |
c.48dup |
p.Asp17* |
Nonsense |
1/13 |
- |
1 |
12-103310861-AG-AA |
c.47delinsT |
p.Ser16Phe |
Nonsense |
1/13 |
- |
3 |
12-103310861-AGA-GAG |
c.46_48delinsCTC |
p.Ser16Leu |
Missense |
1/13 |
- |
1 |
12-103310863-A-C |
c.46T>G |
p.Ser16Ala |
Missense |
1/13 |
- |
1 |
12-103310863-A-G |
c.46T>C |
p.Ser16Pro |
Missense |
1/13 |
- |
4 |
12-103310865-A-ACT |
c.43_44insAG |
p.Leu15Glnfs*24 |
Frameshift |
1/13 |
- |
1 |
12-103310865-GAG-G |
c.47_48del |
p.Ser16* |
Frameshift |
1/13 |
- |
12 |
12-103310867-T-C |
c.42A>G |
p.Lys14Lys |
Synonymous |
1/13 |
- |
1 |
12-103310873-G-A |
c.36C>T |
p.Gly12Gly |
Synonymous |
1/13 |
- |
1 |
12-103310873-GC-AG |
c.35_36delinsCT |
p.Gly12Ala |
Missense |
1/13 |
- |
1 |
12-103310873-G-T |
c.36C>A |
p.Gly12Gly |
Synonymous |
1/13 |
- |
1 |
12-103310874-C-T |
c.35G>A |
p.Gly12Asp |
Missense |
1/13 |
- |
4 |
12-103310875-C-A |
c.34G>T |
p.Gly12Cys |
Missense |
1/13 |
- |
1 |
12-103310876-CC-C |
c.35del |
p.Gly12Alafs*26 |
Frameshift |
1/13 |
- |
1 |
12-103310877-A-T |
c.32T>A |
p.Leu11* |
Nonsense |
1/13 |
- |
1 |
12-103310876-C-T |
c.33G>A |
p.Leu11Leu |
Synonymous |
1/13 |
- |
1 |
12-103310878-A-G |
c.31T>C |
p.Leu11Leu |
Synonymous |
1/13 |
- |
1 |
12-103310879-G-A |
c.30C>T |
p.Gly10Gly |
Synonymous |
1/13 |
- |
1 |
12-103310879-G-C |
c.30C>G |
p.Gly10Gly |
Synonymous |
1/13 |
- |
3 |
12-103310879-G-GG |
c.30dup |
p.Arg13Glnfs*5 |
Frameshift |
1/13 |
- |
2 |
12-103310879-G-T |
c.30C>A |
p.Gly10Gly |
Synonymous |
1/13 |
- |
1 |
12-103310889-T-A |
c.20A>T |
p.Glu7Val |
Missense |
1/13 |
- |
1 |
12-103310891-C-A |
c.18G>T |
p.Leu6Leu |
Synonymous |
1/13 |
- |
1 |
12-103310891-C-G |
c.18G>C |
p.Leu6Leu |
Synonymous |
1/13 |
- |
1 |
12-103310891-C-T |
c.18G>A |
p.Leu6Leu |
Synonymous |
1/13 |
- |
1 |
12-103310893-G-A |
c.16C>T |
p.Leu6Leu |
Synonymous |
1/13 |
- |
1 |
12-103310897-C-A |
c.12G>T |
p.Ala4Ala |
Synonymous |
1/13 |
- |
1 |
12-103310897-CC-C |
c.13del |
p.Val5Serfs*33 |
Frameshift |
1/13 |
- |
2 |
12-103310897-C-G |
c.12G>C |
p.Ala4Ala |
Synonymous |
1/13 |
- |
1 |
12-103310897-C-T |
c.12G>A |
p.Ala4Ala |
Synonymous |
1/13 |
- |
1 |
12-103310900-A-C |
c.9T>G |
p.Thr3Thr |
Synonymous |
1/13 |
- |
1 |
12-103310900-A-G |
c.9T>C |
p.Thr3Thr |
Synonymous |
1/13 |
- |
1 |
12-103310900-A-T |
c.9T>A |
p.Thr3Thr |
Synonymous |
1/13 |
- |
1 |
12-103310906-C-T |
c.3G>A |
p.Met1? |
Missense |
1/13 |
- |
1 |
12-103310908-T-C |
c.1A>G |
p.Met1? |
Missense |
1/13 |
- |
3 |
12-103310912-G-A |
c.-4C>T |
- |
5-UTRSNV |
1/13 |
- |
1 |
12-103310914-C-T |
c.-6G>A |
- |
5-UTRSNV |
1/13 |
- |
1 |
12-103310916-C-G |
c.-8G>C |
- |
5-UTRSNV |
1/13 |
- |
1 |
12-103310977-C-T |
c.-69G>A |
- |
5-UTRSNV |
1/13 |
- |
1 |
12-103310979-T-G |
c.-71A>C |
- |
5-UTRSNV |
1/13 |
- |
1 |
12-103310989-G-A |
c.-81C>T |
- |
5-UTRSNV |
1/13 |
- |
1 |