11-47353427-G-A |
c.3820C>T |
p.Gln1274* |
Nonsense |
34/35 |
- |
1 |
11-47353429-G-A |
c.3818C>T |
p.Pro1273Leu |
Missense |
34/35 |
- |
2 |
11-47353433-C-T |
c.3815-1G>A |
- |
IntronicSNV |
- |
33/34 |
1 |
11-47353440-A-G |
c.3815-8T>C |
- |
IntronicSNV |
- |
33/34 |
1 |
11-47353444-G-A |
c.3815-12C>T |
- |
IntronicSNV |
- |
33/34 |
1 |
11-47353498-G-A |
c.3815-66C>T |
- |
IntronicSNV |
- |
33/34 |
3 |
11-47353580-C-A |
c.3814+43G>T |
- |
IntronicSNV |
- |
33/34 |
1 |
11-47353580-C-T |
c.3814+43G>A |
- |
IntronicSNV |
- |
33/34 |
1 |
11-47353581-G-A |
c.3814+42C>T |
- |
IntronicSNV |
- |
33/34 |
1 |
11-47353624-T-C |
c.3813A>G |
p.Arg1271Arg |
Synonymous |
33/35 |
- |
1 |
11-47353626-G-A |
c.3811C>T |
p.Arg1271* |
Nonsense |
33/35 |
- |
4 |
11-47353628-A-G |
c.3809T>C |
p.Val1270Ala |
Missense |
33/35 |
- |
1 |
11-47353637-C-T |
c.3800G>A |
p.Arg1267His |
Missense |
33/35 |
- |
2 |
11-47353639-GG-G |
c.3799del |
p.Arg1267Alafs*64 |
Frameshift |
33/35 |
- |
1 |
11-47353640-C-T |
c.3797G>A |
p.Cys1266Tyr |
Missense |
33/35 |
- |
2 |
11-47353641-A-G |
c.3796T>C |
p.Cys1266Arg |
Missense |
33/35 |
- |
2 |
11-47353643-T-A |
c.3794A>T |
p.Glu1265Val |
Missense |
33/35 |
- |
2 |
11-47353646-C-A |
c.3791G>T |
p.Cys1264Phe |
Missense |
33/35 |
- |
4 |
11-47353646-C-T |
c.3791G>A |
p.Cys1264Tyr |
Missense |
33/35 |
- |
1 |
11-47353650-G-A |
c.3787C>T |
p.Arg1263Trp |
Missense |
33/35 |
- |
1 |
11-47353658-C-T |
c.3779G>A |
p.Gly1260Asp |
Missense |
33/35 |
- |
3 |
11-47353661-CT-C |
c.3776del |
p.Gln1259Argfs*72 |
Frameshift |
33/35 |
- |
5 |
11-47353661-T-C |
c.3776A>G |
p.Gln1259Arg |
Missense |
33/35 |
- |
1 |
11-47353662-G-A |
c.3775C>T |
p.Gln1259* |
Nonsense |
33/35 |
- |
3 |
11-47353666-G-T |
c.3771C>A |
p.Asn1257Lys |
Missense |
33/35 |
- |
4 |
11-47353670-G-A |
c.3767C>T |
p.Thr1256Ile |
Missense |
33/35 |
- |
1 |
11-47353671-GTGG-G |
c.3767_3769del |
p.Thr1256del |
InFrameDeletion |
33/35 |
- |
2 |
11-47353671-T-TT |
c.3766dup |
p.Thr1256Asnfs*10 |
Frameshift |
33/35 |
- |
1 |
11-47353674-C-T |
c.3763G>A |
p.Ala1255Thr |
Missense |
33/35 |
- |
4 |
11-47353677-T-TACATACATAGATACCACC |
c.3759_3760insGGTGGTATCTATGTATGT |
p.Gly1248_Cys1253dup |
InFrameInsertion |
33/35 |
- |
2 |
11-47353684-A-C |
c.3753T>G |
p.Tyr1251* |
Nonsense |
33/35 |
- |
1 |
11-47353684-A-T |
c.3753T>A |
p.Tyr1251* |
Nonsense |
33/35 |
- |
1 |
11-47353691-C-A |
c.3746G>T |
p.Gly1249Val |
Missense |
33/35 |
- |
1 |
11-47353693-CCC-TGT |
c.3742_3744delinsACA |
p.Gly1248Thr |
Missense |
33/35 |
- |
1 |
11-47353695-C-T |
c.3742G>A |
p.Gly1248Arg |
Missense |
33/35 |
- |
5 |
11-47353698-C-T |
c.3739G>A |
p.Asp1247Asn |
Missense |
33/35 |
- |
1 |
11-47353705-GG-G |
c.3735del |
p.Phe1246Leufs*85 |
Frameshift |
33/35 |
- |
5 |
11-47353705-G-T |
c.3732C>A |
p.Cys1244* |
Nonsense |
33/35 |
- |
1 |
11-47353718-A-T |
c.3719T>A |
p.Ile1240Asn |
Missense |
33/35 |
- |
1 |
11-47353721-CTCC-C |
c.3715_3717del |
p.Glu1239del |
InFrameDeletion |
33/35 |
- |
1 |
11-47353721-T-C |
c.3716A>G |
p.Glu1239Gly |
Missense |
33/35 |
- |
1 |
11-47353722-C-T |
c.3715G>A |
p.Glu1239Lys |
Missense |
33/35 |
- |
1 |
11-47353732-C-T |
c.3705G>A |
p.Val1235Val |
Synonymous |
33/35 |
- |
1 |
11-47353738-C-T |
c.3699G>A |
p.Gln1233Gln |
Synonymous |
33/35 |
- |
1 |
11-47353740-G-A |
c.3697C>T |
p.Gln1233* |
Nonsense |
33/35 |
- |
10 |
11-47353755-G-A |
c.3682C>T |
p.Arg1228Cys |
Missense |
33/35 |
- |
5 |
11-47353761-G-A |
c.3676C>T |
p.Arg1226Cys |
Missense |
33/35 |
- |
2 |
11-47353765-G-A |
c.3672C>T |
p.Asp1224Asp |
Synonymous |
33/35 |
- |
1 |
11-47353780-C-A |
c.3657G>T |
p.Leu1219Leu |
Synonymous |
33/35 |
- |
1 |
11-47353780-C-CC |
c.3658dup |
p.Asp1220Glyfs*22 |
Frameshift |
33/35 |
- |
1 |
11-47353781-A-G |
c.3656T>C |
p.Leu1219Pro |
Missense |
33/35 |
- |
2 |
11-47353783-G-A |
c.3654C>T |
p.Gly1218Gly |
Synonymous |
33/35 |
- |
1 |
11-47353785-C-G |
c.3652G>C |
p.Gly1218Arg |
Missense |
33/35 |
- |
1 |
11-47353796-C-T |
c.3641G>A |
p.Trp1214* |
Nonsense |
33/35 |
- |
2 |
11-47353801-A-C |
c.3636T>G |
p.Ile1212Met |
Missense |
33/35 |
- |
2 |
11-47353821-G-C |
c.3628-12C>G |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47353833-GAGGGAAGCCATCCAGGCTGAGAGGG-G |
c.3628-41_3628-17del |
- |
IntronicDeletion |
- |
32/34 |
3 |
11-47353840-C-G |
c.3628-31G>C |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47354068-G-A |
c.3627+49C>T |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47354087-C-A |
c.3627+30G>T |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47354087-C-T |
c.3627+30G>A |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47354088-G-A |
c.3627+29C>T |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47354088-G-T |
c.3627+29C>A |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47354116-C-A |
c.3627+1G>T |
- |
IntronicSNV |
- |
32/34 |
1 |
11-47354118-T-C |
c.3626A>G |
p.Lys1209Arg |
Missense |
32/35 |
- |
1 |
11-47354119-T-TA |
c.3624_3625insT |
p.Lys1209* |
Nonsense |
32/35 |
- |
1 |
11-47354123-GG-G |
c.3624del |
p.Lys1209Serfs*28 |
Frameshift |
32/35 |
- |
6 |
11-47354126-A-AA |
c.3618dup |
p.Ser1207* |
Nonsense |
32/35 |
- |
1 |
11-47354126-TAC-T |
c.3617_3618del |
p.Gly1206Glufs*35 |
Frameshift |
32/35 |
- |
1 |
11-47354127-C-T |
c.3617G>A |
p.Gly1206Asp |
Missense |
32/35 |
- |
2 |
11-47354129-CC-AT |
c.3614_3615delinsAT |
p.Arg1205His |
Missense |
32/35 |
- |
1 |
11-47354129-C-T |
c.3615G>A |
p.Arg1205Arg |
Synonymous |
32/35 |
- |
1 |
11-47354130-C-T |
c.3614G>A |
p.Arg1205Gln |
Missense |
32/35 |
- |
1 |
11-47354131-G-A |
c.3613C>T |
p.Arg1205Trp |
Missense |
32/35 |
- |
1 |
11-47354139-AC-A |
c.3605del |
p.Cys1202Leufs*35 |
Frameshift |
32/35 |
- |
2 |
11-47354139-ACAGCAGAGCA-A |
c.3600_3609del |
p.Cys1201Serfs*33 |
Frameshift |
32/35 |
- |
2 |
11-47354145-A-G |
c.3599T>C |
p.Leu1200Pro |
Missense |
32/35 |
- |
1 |
11-47354152-C-CC |
c.3592dup |
p.Ala1198Glyfs*10 |
Frameshift |
32/35 |
- |
1 |
11-47354153-CAGTGTAGCCCGC-C |
c.3582_3593del |
p.Gly1195_Ala1198del |
InFrameDeletion |
32/35 |
- |
1 |
11-47354163-G-A |
c.3581C>T |
p.Ala1194Val |
Missense |
32/35 |
- |
1 |
11-47354164-C-T |
c.3580G>A |
p.Ala1194Thr |
Missense |
32/35 |
- |
1 |
11-47354165-G-C |
c.3579C>G |
p.Ile1193Met |
Missense |
32/35 |
- |
2 |
11-47354172-G-A |
c.3572C>T |
p.Ser1191Leu |
Missense |
32/35 |
- |
2 |
11-47354175-C-A |
c.3569G>T |
p.Arg1190Leu |
Missense |
32/35 |
- |
1 |
11-47354175-C-T |
c.3569G>A |
p.Arg1190His |
Missense |
32/35 |
- |
1 |
11-47354184-A-C |
c.3560T>G |
p.Leu1187Arg |
Missense |
32/35 |
- |
3 |
11-47354193-G-T |
c.3551C>A |
p.Thr1184Asn |
Missense |
32/35 |
- |
3 |
11-47354196-A-C |
c.3548T>G |
p.Phe1183Cys |
Missense |
32/35 |
- |
1 |
11-47354209-C-A |
c.3535G>T |
p.Glu1179* |
Nonsense |
32/35 |
- |
3 |
11-47354209-C-T |
c.3535G>A |
p.Glu1179Lys |
Missense |
32/35 |
- |
9 |
11-47354233-TT-T |
c.3512del |
p.Asn1171Thrfs*18 |
Frameshift |
32/35 |
- |
1 |
11-47354246-G-C |
c.3498C>G |
p.Thr1166Thr |
Synonymous |
32/35 |
- |
1 |
11-47354252-G-A |
c.3492C>T |
p.Gly1164Gly |
Synonymous |
32/35 |
- |
1 |
11-47354254-C-T |
c.3491-1G>A |
- |
IntronicSNV |
- |
31/34 |
1 |
11-47354278-G-A |
c.3491-25C>T |
- |
IntronicSNV |
- |
31/34 |
1 |
11-47354359-C-T |
c.3490+6G>A |
- |
IntronicSNV |
- |
31/34 |
1 |
11-47354363-A-C |
c.3490+2T>G |
- |
IntronicSNV |
- |
31/34 |
1 |
11-47354364-C-A |
c.3490+1G>T |
- |
IntronicSNV |
- |
31/34 |
2 |
11-47354370-C-T |
c.3485G>A |
p.Arg1162Lys |
Missense |
31/35 |
- |
1 |
11-47354379-AAA-A |
c.3476_3477del |
p.Phe1159Tyrfs*9 |
Frameshift |
31/35 |
- |
2 |
11-47354386-G-C |
c.3469C>G |
p.Pro1157Ala |
Missense |
31/35 |
- |
1 |
11-47354392-T-C |
c.3463A>G |
p.Lys1155Glu |
Missense |
31/35 |
- |
1 |
11-47354403-G-A |
c.3452C>T |
p.Ala1151Val |
Missense |
31/35 |
- |
2 |
11-47354403-G-T |
c.3452C>A |
p.Ala1151Glu |
Missense |
31/35 |
- |
1 |
11-47354413-T-G |
c.3442A>C |
p.Ser1148Arg |
Missense |
31/35 |
- |
1 |
11-47354440-C-T |
c.3415G>A |
p.Val1139Ile |
Missense |
31/35 |
- |
3 |
11-47354442-C-G |
c.3413G>C |
p.Arg1138Pro |
Missense |
31/35 |
- |
3 |
11-47354442-C-T |
c.3413G>A |
p.Arg1138His |
Missense |
31/35 |
- |
9 |
11-47354443-G-A |
c.3412C>T |
p.Arg1138Cys |
Missense |
31/35 |
- |
2 |
11-47354449-A-C |
c.3406T>G |
p.Tyr1136Asp |
Missense |
31/35 |
- |
1 |
11-47354451-GTAG-G |
c.3407_3409del |
p.Tyr1136del |
InFrameDeletion |
31/35 |
- |
2 |
11-47354454-C-T |
c.3401G>A |
p.Gly1134Asp |
Missense |
31/35 |
- |
1 |
11-47354463-A-G |
c.3392T>C |
p.Ile1131Thr |
Missense |
31/35 |
- |
5 |
11-47354471-C-G |
c.3384G>C |
p.Glu1128Asp |
Missense |
31/35 |
- |
2 |
11-47354472-T-G |
c.3383A>C |
p.Glu1128Ala |
Missense |
31/35 |
- |
1 |
11-47354482-C-T |
c.3373G>A |
p.Val1125Met |
Missense |
31/35 |
- |
1 |
11-47354483-G-T |
c.3372C>A |
p.Cys1124* |
Nonsense |
31/35 |
- |
2 |
11-47354484-C-A |
c.3371G>T |
p.Cys1124Phe |
Missense |
31/35 |
- |
1 |
11-47354485-A-G |
c.3370T>C |
p.Cys1124Arg |
Missense |
31/35 |
- |
3 |
11-47354491-T-A |
c.3364A>T |
p.Thr1122Ser |
Missense |
31/35 |
- |
1 |
11-47354493-C-T |
c.3362G>A |
p.Arg1121His |
Missense |
31/35 |
- |
1 |
11-47354494-G-A |
c.3361C>T |
p.Arg1121Cys |
Missense |
31/35 |
- |
1 |
11-47354497-G-A |
c.3358C>T |
p.Arg1120Cys |
Missense |
31/35 |
- |
1 |
11-47354513-G-A |
c.3342C>T |
p.Thr1114Thr |
Synonymous |
31/35 |
- |
1 |
11-47354513-G-C |
c.3342C>G |
p.Thr1114Thr |
Synonymous |
31/35 |
- |
1 |
11-47354513-G-T |
c.3342C>A |
p.Thr1114Thr |
Synonymous |
31/35 |
- |
1 |
11-47354518-A-T |
c.3337T>A |
p.Phe1113Ile |
Missense |
31/35 |
- |
3 |
11-47354522-C-CACC |
c.3333_3334insGTG |
p.Glu1111_Trp1112insVal |
InFrameInsertion |
31/35 |
- |
1 |
11-47354525-C-T |
c.3331-1G>A |
- |
IntronicSNV |
- |
30/34 |
1 |
11-47354526-T-C |
c.3331-2A>G |
- |
IntronicSNV |
- |
30/34 |
1 |
11-47354574-T-C |
c.3331-50A>G |
- |
IntronicSNV |
- |
30/34 |
1 |
11-47354699-C-T |
c.3330+46G>A |
- |
IntronicSNV |
- |
30/34 |
1 |
11-47354700-G-T |
c.3330+45C>A |
- |
IntronicSNV |
- |
30/34 |
1 |
11-47354719-G-A |
c.3330+26C>T |
- |
IntronicSNV |
- |
30/34 |
1 |
11-47354740-C-A |
c.3330+5G>T |
- |
IntronicSNV |
- |
30/34 |
2 |
11-47354740-C-G |
c.3330+5G>C |
- |
IntronicSNV |
- |
30/34 |
6 |
11-47354740-C-T |
c.3330+5G>A |
- |
IntronicSNV |
- |
30/34 |
2 |
11-47354743-A-C |
c.3330+2T>G |
- |
IntronicSNV |
- |
30/34 |
7 |
11-47354743-A-G |
c.3330+2T>C |
- |
IntronicSNV |
- |
30/34 |
1 |
11-47354747-AT-A |
c.3328del |
p.Met1110Trpfs*79 |
Frameshift |
30/35 |
- |
2 |
11-47354752-T-G |
c.3323A>C |
p.Lys1108Thr |
Missense |
30/35 |
- |
2 |
11-47354759-C-T |
c.3316G>A |
p.Asp1106Asn |
Missense |
30/35 |
- |
1 |
11-47354760-G-A |
c.3315C>T |
p.Ala1105Ala |
Synonymous |
30/35 |
- |
1 |
11-47354760-G-T |
c.3315C>A |
p.Ala1105Ala |
Synonymous |
30/35 |
- |
1 |
11-47354762-C-CCC |
c.3313_3314insGG |
p.Ala1105Glyfs*85 |
Frameshift |
30/35 |
- |
1 |
11-47354766-C-A |
c.3309G>T |
p.Gln1103His |
Missense |
30/35 |
- |
1 |
11-47354766-C-G |
c.3309G>C |
p.Gln1103His |
Missense |
30/35 |
- |
1 |
11-47354770-A-T |
c.3305T>A |
p.Val1102Glu |
Missense |
30/35 |
- |
1 |
11-47354781-CCC-C |
c.3296_3297del |
p.Gly1099Valfs*49 |
Frameshift |
30/35 |
- |
1 |
11-47354781-C-T |
c.3294G>A |
p.Trp1098* |
Nonsense |
30/35 |
- |
4 |
11-47354782-C-CC |
c.3297dup |
p.Tyr1100Valfs*49 |
Frameshift |
30/35 |
- |
1 |
11-47354782-C-T |
c.3293G>A |
p.Trp1098* |
Nonsense |
30/35 |
- |
4 |
11-47354787-C-T |
c.3288G>A |
p.Glu1096Glu |
Synonymous |
30/35 |
- |
14 |
11-47354787-GC-G |
c.3288del |
p.Glu1096Aspfs*93 |
Frameshift |
30/35 |
- |
3 |
11-47354789-C-A |
c.3286G>T |
p.Glu1096* |
Nonsense |
30/35 |
- |
1 |
11-47354808-G-T |
c.3267C>A |
p.Pro1089Pro |
Synonymous |
30/35 |
- |
1 |
11-47354809-G-C |
c.3266C>G |
p.Pro1089Arg |
Missense |
30/35 |
- |
1 |
11-47354842-C-T |
c.3233G>A |
p.Trp1078* |
Nonsense |
30/35 |
- |
4 |
11-47354843-A-G |
c.3232T>C |
p.Trp1078Arg |
Missense |
30/35 |
- |
1 |
11-47354846-C-A |
c.3229G>T |
p.Ala1077Ser |
Missense |
30/35 |
- |
1 |
11-47354847-G-GA |
c.3227_3228insT |
p.Ala1077Argfs*5 |
Frameshift |
30/35 |
- |
1 |
11-47354848-T-C |
c.3227A>G |
p.Asp1076Gly |
Missense |
30/35 |
- |
1 |
11-47354848-T-TA |
c.3226_3227insT |
p.Asp1076Valfs*6 |
Frameshift |
30/35 |
- |
5 |
11-47354850-A-AA |
c.3225dup |
p.Asp1076* |
Nonsense |
30/35 |
- |
2 |
11-47354851-G-C |
c.3224C>G |
p.Thr1075Ser |
Missense |
30/35 |
- |
1 |
11-47354852-T-A |
c.3223A>T |
p.Thr1075Ser |
Missense |
30/35 |
- |
1 |
11-47354852-T-C |
c.3223A>G |
p.Thr1075Ala |
Missense |
30/35 |
- |
1 |
11-47354857-C-CT |
c.3217_3218insA |
p.Arg1073Glnfs*4 |
Frameshift |
30/35 |
- |
1 |
11-47354857-C-G |
c.3218G>C |
p.Arg1073Pro |
Missense |
30/35 |
- |
3 |
11-47354857-C-T |
c.3218G>A |
p.Arg1073Gln |
Missense |
30/35 |
- |
1 |
11-47354858-G-A |
c.3217C>T |
p.Arg1073Trp |
Missense |
30/35 |
- |
1 |
11-47354877-T-TT |
c.3199dup |
p.Ser1067Lysfs*10 |
Frameshift |
30/35 |
- |
1 |
11-47354878-G-C |
c.3197C>G |
p.Pro1066Arg |
Missense |
30/35 |
- |
1 |
11-47354882-T-TA |
c.3192_3193insT |
p.Lys1065* |
SpliceAcceptorInsertion |
30/35 |
- |
1 |
11-47354882-T-TC |
c.3192_3193insG |
p.Lys1065Glufs*12 |
SpliceAcceptorInsertion |
30/35 |
- |
1 |
11-47354883-G-GG |
c.3192dup |
p.Lys1065Glnfs*12 |
SpliceAcceptorInsertion |
30/35 |
- |
7 |
11-47354891-G-A |
c.3191-7C>T |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47354905-T-C |
c.3191-21A>G |
- |
IntronicSNV |
- |
29/34 |
5 |
11-47354920-C-T |
c.3191-36G>A |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47354931-G-A |
c.3191-47C>T |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47355060-G-A |
c.3190+48C>T |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47355089-G-A |
c.3190+19C>T |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47355103-C-G |
c.3190+5G>C |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47355103-C-T |
c.3190+5G>A |
- |
IntronicSNV |
- |
29/34 |
3 |
11-47355106-A-C |
c.3190+2T>G |
- |
IntronicSNV |
- |
29/34 |
2 |
11-47355106-A-G |
c.3190+2T>C |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47355107-ACCAACAACCTGCA-A |
c.3182_3190+4del |
- |
SpliceDonorDeletion |
29/35 |
29/34 |
1 |
11-47355107-C-T |
c.3190+1G>A |
- |
IntronicSNV |
- |
29/34 |
1 |
11-47355112-CAAC-C |
c.3188_3190del |
p.Val1063del |
InFrameDeletion |
29/35 |
- |
1 |
11-47355114-C-CTTGCC |
c.3184_3185insGCAAG |
p.Val1062Glyfs*15 |
Frameshift |
29/35 |
- |
2 |
11-47355117-G-A |
c.3181C>T |
p.Gln1061* |
Nonsense |
29/35 |
- |
22 |
11-47355128-G-A |
c.3170C>T |
p.Thr1057Met |
Missense |
29/35 |
- |
1 |
11-47355133-C-CC |
c.3166dup |
p.Ala1056Glyfs*9 |
Frameshift |
29/35 |
- |
1 |
11-47355155-C-T |
c.3143G>A |
p.Arg1048His |
Missense |
29/35 |
- |
1 |
11-47355156-G-A |
c.3142C>T |
p.Arg1048Cys |
Missense |
29/35 |
- |
2 |
11-47355160-CC-C |
c.3139del |
p.Val1047Cysfs*28 |
Frameshift |
29/35 |
- |
2 |
11-47355161-G-A |
c.3137C>T |
p.Thr1046Met |
Missense |
29/35 |
- |
2 |
11-47355171-A-G |
c.3127T>C |
p.Tyr1043His |
Missense |
29/35 |
- |
1 |
11-47355171-A-T |
c.3127T>A |
p.Tyr1043Asn |
Missense |
29/35 |
- |
1 |
11-47355172-A-ATT |
c.3125_3126insAA |
p.Tyr1043Ilefs*4 |
Frameshift |
29/35 |
- |
1 |
11-47355187-G-A |
c.3111C>T |
p.Arg1037Arg |
Synonymous |
29/35 |
- |
1 |
11-47355188-C-T |
c.3110G>A |
p.Arg1037His |
Missense |
29/35 |
- |
1 |
11-47355189-G-A |
c.3109C>T |
p.Arg1037Cys |
Missense |
29/35 |
- |
3 |
11-47355189-G-C |
c.3109C>G |
p.Arg1037Gly |
Missense |
29/35 |
- |
1 |
11-47355191-C-T |
c.3107G>A |
p.Arg1036His |
Missense |
29/35 |
- |
1 |
11-47355192-G-A |
c.3106C>T |
p.Arg1036Cys |
Missense |
29/35 |
- |
4 |
11-47355193-A-T |
c.3105T>A |
p.Ala1035Ala |
Synonymous |
29/35 |
- |
1 |
11-47355195-C-T |
c.3103G>A |
p.Ala1035Thr |
Missense |
29/35 |
- |
1 |
11-47355200-C-A |
c.3098G>T |
p.Arg1033Leu |
Missense |
29/35 |
- |
1 |
11-47355200-C-T |
c.3098G>A |
p.Arg1033Gln |
Missense |
29/35 |
- |
4 |
11-47355201-G-A |
c.3097C>T |
p.Arg1033Trp |
Missense |
29/35 |
- |
2 |
11-47355208-C-T |
c.3090G>A |
p.Leu1030Leu |
Synonymous |
29/35 |
- |
1 |
11-47355209-A-G |
c.3089T>C |
p.Leu1030Pro |
Missense |
29/35 |
- |
1 |
11-47355215-G-C |
c.3083C>G |
p.Thr1028Ser |
Missense |
29/35 |
- |
4 |
11-47355232-G-GG |
c.3066dup |
p.Asn1023Glnfs*28 |
Frameshift |
29/35 |
- |
1 |
11-47355233-C-G |
c.3065G>C |
p.Arg1022Pro |
Missense |
29/35 |
- |
6 |
11-47355233-C-T |
c.3065G>A |
p.Arg1022His |
Missense |
29/35 |
- |
1 |
11-47355234-G-A |
c.3064C>T |
p.Arg1022Cys |
Missense |
29/35 |
- |
2 |
11-47355246-C-G |
c.3052G>C |
p.Glu1018Gln |
Missense |
29/35 |
- |
2 |
11-47355249-C-T |
c.3049G>A |
p.Glu1017Lys |
Missense |
29/35 |
- |
2 |
11-47355257-CA-C |
c.3041del |
p.Leu1014Argfs*6 |
Frameshift |
29/35 |
- |
2 |
11-47355264-G-A |
c.3034C>T |
p.Gln1012* |
Nonsense |
29/35 |
- |
3 |
11-47355267-C-T |
c.3031G>A |
p.Gly1011Arg |
Missense |
29/35 |
- |
1 |
11-47355269-CT-C |
c.3029del |
p.Glu1010Glyfs*10 |
Frameshift |
29/35 |
- |
1 |
11-47355278-C-T |
c.3020G>A |
p.Trp1007* |
Nonsense |
29/35 |
- |
1 |
11-47355281-GG-G |
c.3018del |
p.Trp1007Glyfs*13 |
Frameshift |
29/35 |
- |
1 |
11-47355286-CCTG-C |
c.3010_3012del |
p.Gln1004del |
InFrameDeletion |
29/35 |
- |
9 |
11-47355288-TGAGGCCGGGGCTTGCC-T |
c.2995_3010del |
p.Gly999Argfs*2 |
SpliceAcceptorDeletion |
29/35 |
- |
1 |
11-47355292-GCCGGGGCTTGCCCTGAGG-G |
c.2996_3013del |
p.Gly999_Gln1004del |
InFrameDeletion |
29/35 |
28/34 |
1 |
11-47355293-C-T |
c.3005G>A |
p.Arg1002Gln |
Missense |
29/35 |
- |
7 |
11-47355294-G-A |
c.3004C>T |
p.Arg1002Trp |
Missense |
29/35 |
- |
7 |
11-47355295-G-A |
c.3003C>T |
p.Pro1001Pro |
Synonymous |
29/35 |
- |
1 |
11-47355430-T-C |
c.2994+43A>G |
- |
IntronicSNV |
- |
28/34 |
1 |
11-47355474-T-C |
c.2993A>G |
p.Gln998Arg |
Missense |
28/35 |
- |
4 |
11-47355475-G-A |
c.2992C>T |
p.Gln998* |
Nonsense |
28/35 |
- |
2 |
11-47355475-G-C |
c.2992C>G |
p.Gln998Glu |
Missense |
28/35 |
- |
13 |
11-47355487-G-A |
c.2980C>T |
p.Leu994Phe |
Missense |
28/35 |
- |
2 |
11-47355490-G-A |
c.2977C>T |
p.Leu993Phe |
Missense |
28/35 |
- |
1 |
11-47355506-G-C |
c.2961C>G |
p.Val987Val |
Synonymous |
28/35 |
- |
1 |
11-47355523-GTCTGG-G |
c.2943_2947del |
p.Gln981Hisfs*68 |
Frameshift |
28/35 |
- |
2 |
11-47355528-C-T |
c.2939G>A |
p.Arg980His |
Missense |
28/35 |
- |
1 |
11-47355529-G-A |
c.2938C>T |
p.Arg980Cys |
Missense |
28/35 |
- |
1 |
11-47355552-C-T |
c.2915G>A |
p.Arg972Gln |
Missense |
28/35 |
- |
1 |
11-47355553-G-A |
c.2914C>T |
p.Arg972Trp |
Missense |
28/35 |
- |
2 |
11-47355558-C-T |
c.2909G>A |
p.Arg970Gln |
Missense |
28/35 |
- |
3 |
11-47355559-G-A |
c.2908C>T |
p.Arg970Trp |
Missense |
28/35 |
- |
2 |
11-47355563-T-C |
c.2906-2A>G |
- |
IntronicSNV |
- |
27/34 |
1 |
11-47356543-G-C |
c.2905+50C>G |
- |
IntronicSNV |
- |
27/34 |
1 |
11-47356553-G-A |
c.2905+40C>T |
- |
IntronicSNV |
- |
27/34 |
1 |
11-47356553-TGTCAATGGCGGGTCTTGTGACTGCACAAAGGGGCACTCACGCAGGATCTCCTGCACTGT-T |
c.2889_2905+42del |
- |
Unclassified |
27/35 |
27/34 |
1 |
11-47356588-C-A |
c.2905+5G>T |
- |
IntronicSNV |
- |
27/34 |
1 |
11-47356588-C-T |
c.2905+5G>A |
- |
IntronicSNV |
- |
27/34 |
1 |
11-47356591-A-G |
c.2905+2T>C |
- |
IntronicSNV |
- |
27/34 |
1 |
11-47356592-C-G |
c.2905+1G>C |
- |
IntronicSNV |
- |
27/34 |
1 |
11-47356592-C-T |
c.2905+1G>A |
- |
IntronicSNV |
- |
27/34 |
10 |
11-47356593-G-A |
c.2905C>T |
p.Gln969* |
Nonsense |
27/35 |
- |
5 |
11-47356604-T-C |
c.2894A>G |
p.Gln965Arg |
Missense |
27/35 |
- |
1 |
11-47356608-C-A |
c.2890G>T |
p.Val964Leu |
Missense |
27/35 |
- |
1 |
11-47356608-C-G |
c.2890G>C |
p.Val964Leu |
Missense |
27/35 |
- |
1 |
11-47356614-C-G |
c.2884G>C |
p.Val962Leu |
Missense |
27/35 |
- |
1 |
11-47356615-C-T |
c.2883G>A |
p.Pro961Pro |
Synonymous |
27/35 |
- |
1 |
11-47356616-G-A |
c.2882C>T |
p.Pro961Leu |
Missense |
27/35 |
- |
3 |
11-47356621-C-T |
c.2877G>A |
p.Thr959Thr |
Synonymous |
27/35 |
- |
1 |
11-47356625-G-A |
c.2873C>T |
p.Thr958Ile |
Missense |
27/35 |
- |
5 |
11-47356628-G-C |
c.2870C>G |
p.Thr957Ser |
Missense |
27/35 |
- |
8 |
11-47356633-CAG-C |
c.2864_2865del |
p.Pro955Argfs*95 |
Frameshift |
27/35 |
- |
22 |
11-47356634-G-C |
c.2864C>G |
p.Pro955Arg |
Missense |
27/35 |
- |
1 |
11-47356638-C-T |
c.2860G>A |
p.Ala954Thr |
Missense |
27/35 |
- |
1 |
11-47356642-CAGGCC-C |
c.2854_2858del |
p.Pro952Serfs*97 |
Frameshift |
27/35 |
- |
2 |
11-47356649-G-A |
c.2849C>T |
p.Ala950Val |
Missense |
27/35 |
- |
2 |
11-47356655-T-G |
c.2843A>C |
p.Asn948Thr |
Missense |
27/35 |
- |
6 |
11-47356659-G-T |
c.2839C>A |
p.His947Asn |
Missense |
27/35 |
- |
1 |
11-47356663-CCG-TGT |
c.2833_2835delinsACA |
p.Arg945Thr |
Missense |
27/35 |
- |
1 |
11-47356665-CGC-C |
c.2833_2834del |
p.Arg945Glyfs*105 |
Frameshift |
27/35 |
- |
3 |
11-47356671-G-A |
c.2827C>T |
p.Arg943* |
Nonsense |
27/35 |
- |
36 |
11-47356682-C-G |
c.2816G>C |
p.Arg939Pro |
Missense |
27/35 |
- |
1 |
11-47356686-C-A |
c.2812G>T |
p.Ala938Ser |
Missense |
27/35 |
- |
1 |
11-47356690-C-T |
c.2808G>A |
p.Thr936Thr |
Synonymous |
27/35 |
- |
1 |
11-47356691-G-A |
c.2807C>T |
p.Thr936Met |
Missense |
27/35 |
- |
2 |
11-47356696-C-A |
c.2802G>T |
p.Leu934Leu |
Synonymous |
27/35 |
- |
1 |
11-47356715-G-A |
c.2783C>T |
p.Ser928Leu |
Missense |
27/35 |
- |
4 |
11-47356718-G-A |
c.2780C>T |
p.Thr927Ile |
Missense |
27/35 |
- |
2 |
11-47356721-GTG-G |
c.2780_2781del |
p.Thr927Ilefs*123 |
Frameshift |
27/35 |
- |
1 |
11-47356725-TCT-T |
c.2774_2775del |
p.Glu925Alafs*125 |
Frameshift |
27/35 |
- |
1 |
11-47356727-G-A |
c.2771C>T |
p.Thr924Ile |
Missense |
27/35 |
- |
1 |
11-47356733-C-T |
c.2765G>A |
p.Gly922Glu |
Missense |
27/35 |
- |
1 |
11-47356750-C-T |
c.2748G>A |
p.Trp916* |
Nonsense |
27/35 |
- |
2 |
11-47356751-C-T |
c.2747G>A |
p.Trp916* |
Nonsense |
27/35 |
- |
2 |
11-47356755-C-T |
c.2743G>A |
p.Glu915Lys |
Missense |
27/35 |
- |
1 |
11-47356763-G-C |
c.2738-3C>G |
- |
IntronicSNV |
- |
26/34 |
1 |
11-47356766-G-T |
c.2738-6C>A |
- |
IntronicSNV |
- |
26/34 |
1 |
11-47357416-G-A |
c.2737+12C>T |
- |
IntronicSNV |
- |
26/34 |
5 |
11-47357427-ACA-A |
c.2737+2_2737+3del |
- |
SpliceDonorDeletion |
26/35 |
26/34 |
1 |
11-47357430-C-A |
c.2735G>T |
p.Gly912Val |
Missense |
26/35 |
- |
1 |
11-47357437-G-T |
c.2728C>A |
p.Pro910Thr |
Missense |
26/35 |
- |
5 |
11-47357440-AG-TACAGC |
c.2724_2725delinsGCTGTA |
p.Tyr908* |
Frameshift |
26/35 |
- |
1 |
11-47357450-G-A |
c.2715C>T |
p.Ser905Ser |
Synonymous |
26/35 |
- |
1 |
11-47357468-CTCCTGCTCCC-C |
c.2690_2699del |
p.Gly897Alafs*24 |
Frameshift |
26/35 |
- |
1 |
11-47357472-G-A |
c.2693C>T |
p.Ala898Val |
Missense |
26/35 |
- |
1 |
11-47357479-C-T |
c.2686G>A |
p.Val896Met |
Missense |
26/35 |
- |
20 |
11-47357483-C-A |
c.2682G>T |
p.Glu894Asp |
Missense |
26/35 |
- |
1 |
11-47357493-CG-GC |
c.2671_2672delinsGC |
p.Arg891Ala |
Missense |
26/35 |
- |
1 |
11-47357493-C-T |
c.2672G>A |
p.Arg891Gln |
Missense |
26/35 |
- |
1 |
11-47357494-G-A |
c.2671C>T |
p.Arg891Trp |
Missense |
26/35 |
- |
1 |
11-47357495-C-T |
c.2670G>A |
p.Trp890* |
Nonsense |
26/35 |
- |
7 |
11-47357496-C-CC |
c.2670dup |
p.Arg891Alafs*160 |
Frameshift |
26/35 |
- |
2 |
11-47357511-G-A |
c.2654C>T |
p.Thr885Met |
Missense |
26/35 |
- |
2 |
11-47357529-T-G |
c.2636A>C |
p.Glu879Ala |
Missense |
26/35 |
- |
1 |
11-47357532-A-G |
c.2633T>C |
p.Val878Ala |
Missense |
26/35 |
- |
2 |
11-47357547-G-A |
c.2618C>T |
p.Pro873Leu |
Missense |
26/35 |
- |
4 |
11-47357547-G-T |
c.2618C>A |
p.Pro873His |
Missense |
26/35 |
- |
6 |
11-47357551-C-T |
c.2614G>A |
p.Glu872Lys |
Missense |
26/35 |
- |
1 |
11-47357560-G-GC |
c.2604_2605insG |
p.Pro869Alafs*15 |
SpliceAcceptorInsertion |
26/35 |
- |
1 |
11-47357560-GG-G |
c.2610del |
p.Ser871Alafs*8 |
Frameshift |
26/35 |
- |
2 |
11-47357560-G-GT |
c.2604_2605insA |
p.Pro869Thrfs*15 |
SpliceAcceptorInsertion |
26/35 |
- |
1 |
11-47357561-A-AA |
c.2604dup |
p.Pro869Serfs*15 |
SpliceAcceptorInsertion |
26/35 |
- |
1 |
11-47357564-T-C |
c.2603-2A>G |
- |
IntronicSNV |
- |
25/34 |
2 |
11-47357587-G-C |
c.2603-25C>G |
- |
IntronicSNV |
- |
25/34 |
1 |
11-47358895-T-G |
c.2602+47A>C |
- |
IntronicSNV |
- |
25/34 |
1 |
11-47358942-C-CA |
c.2601_2602insT |
p.Gly868Trpfs*16 |
SpliceDonorInsertion |
25/35 |
- |
1 |
11-47358942-C-CT |
c.2601_2602insA |
p.Gly868Argfs*16 |
SpliceDonorInsertion |
25/35 |
- |
1 |
11-47358942-C-G |
c.2602G>C |
p.Gly868Arg |
Missense |
25/35 |
- |
1 |
11-47358942-C-T |
c.2602G>A |
p.Gly868Ser |
Missense |
25/35 |
- |
1 |
11-47358943-G-A |
c.2601C>T |
p.Ile867Ile |
Synonymous |
25/35 |
- |
3 |
11-47358943-G-C |
c.2601C>G |
p.Ile867Met |
Missense |
25/35 |
- |
1 |
11-47358943-G-GG |
c.2601dup |
p.Gly868Argfs*16 |
SpliceDonorInsertion |
25/35 |
- |
1 |
11-47358943-G-T |
c.2601C>A |
p.Ile867Ile |
Synonymous |
25/35 |
- |
2 |
11-47358954-AA-A |
c.2591del |
p.Phe864Serfs*15 |
Frameshift |
25/35 |
- |
1 |
11-47358971-C-T |
c.2573G>A |
p.Ser858Asn |
Missense |
25/35 |
- |
4 |
11-47358976-C-A |
c.2568G>T |
p.Arg856Ser |
Missense |
25/35 |
- |
1 |
11-47358976-GCCTGG-G |
c.2566_2570del |
p.Arg856Glnfs*26 |
Frameshift |
25/35 |
- |
1 |
11-47358977-CC-C |
c.2568del |
p.Arg856Serfs*23 |
Frameshift |
25/35 |
- |
1 |
11-47358987-C-A |
c.2557G>T |
p.Gly853Cys |
Missense |
25/35 |
- |
1 |
11-47358987-CC-C |
c.2558del |
p.Gly853Alafs*26 |
Frameshift |
25/35 |
- |
3 |
11-47358987-CG-AGA |
c.2556_2557delinsTCT |
p.Gly853Leufs*31 |
Frameshift |
25/35 |
- |
2 |
11-47358987-C-T |
c.2557G>A |
p.Gly853Ser |
Missense |
25/35 |
- |
2 |
11-47358988-CG-C |
c.2556del |
p.Ile852Metfs*27 |
Frameshift |
25/35 |
- |
3 |
11-47358989-A-AA |
c.2555dup |
p.Gly853Argfs*31 |
Frameshift |
25/35 |
- |
3 |
11-47358992-G-A |
c.2552C>T |
p.Ala851Val |
Missense |
25/35 |
- |
3 |
11-47358995-GTTGACCGCGTA-G |
c.2539_2549del |
p.Tyr847Argfs*33 |
Frameshift |
25/35 |
- |
1 |
11-47358995-GTTGACCGCGTAG-G |
c.2539_2550del |
p.Tyr847_Asn850del |
InFrameDeletion |
25/35 |
- |
1 |
11-47358997-G-A |
c.2547C>T |
p.Val849Val |
Synonymous |
25/35 |
- |
3 |
11-47359002-C-T |
c.2542G>A |
p.Ala848Thr |
Missense |
25/35 |
- |
1 |
11-47359002-GC-G |
c.2542del |
p.Ala848Argfs*31 |
Frameshift |
25/35 |
- |
2 |
11-47359003-G-C |
c.2541C>G |
p.Tyr847* |
Nonsense |
25/35 |
- |
4 |
11-47359005-A-G |
c.2539T>C |
p.Tyr847His |
Missense |
25/35 |
- |
1 |
11-47359006-G-C |
c.2538C>G |
p.Val846Val |
Synonymous |
25/35 |
- |
1 |
11-47359007-GACGCG-G |
c.2534_2538del |
p.Arg845Leufs*37 |
Frameshift |
25/35 |
- |
2 |
11-47359008-C-T |
c.2536G>A |
p.Val846Ile |
Missense |
25/35 |
- |
1 |
11-47359010-C-G |
c.2534G>C |
p.Arg845Pro |
Missense |
25/35 |
- |
1 |
11-47359010-C-T |
c.2534G>A |
p.Arg845His |
Missense |
25/35 |
- |
2 |
11-47359017-C-A |
c.2527G>T |
p.Glu843* |
Nonsense |
25/35 |
- |
1 |
11-47359018-G-A |
c.2526C>T |
p.Tyr842Tyr |
Synonymous |
25/35 |
- |
1 |
11-47359018-G-C |
c.2526C>G |
p.Tyr842* |
Nonsense |
25/35 |
- |
4 |
11-47359019-TA-CT |
c.2524_2525delinsAG |
p.Tyr842Ser |
Missense |
25/35 |
- |
1 |
11-47359020-A-AA |
c.2524dup |
p.Tyr842Leufs*42 |
Frameshift |
25/35 |
- |
1 |
11-47359032-C-A |
c.2512G>T |
p.Glu838* |
Nonsense |
25/35 |
- |
1 |
11-47359032-C-CC |
c.2512dup |
p.Glu838Glyfs*46 |
Frameshift |
25/35 |
- |
1 |
11-47359039-G-A |
c.2505C>T |
p.Arg835Arg |
Synonymous |
25/35 |
- |
1 |
11-47359040-C-A |
c.2504G>T |
p.Arg835Leu |
Missense |
25/35 |
- |
3 |
11-47359040-C-T |
c.2504G>A |
p.Arg835His |
Missense |
25/35 |
- |
1 |
11-47359040-GC-G |
c.2504del |
p.Arg835Profs*2 |
Frameshift |
25/35 |
- |
1 |
11-47359041-G-T |
c.2503C>A |
p.Arg835Ser |
Missense |
25/35 |
- |
1 |
11-47359042-C-A |
c.2502G>T |
p.Arg834Arg |
Synonymous |
25/35 |
- |
1 |
11-47359044-G-A |
c.2500C>T |
p.Arg834Trp |
Missense |
25/35 |
- |
2 |
11-47359045-C-T |
c.2499G>A |
p.Ala833Ala |
Synonymous |
25/35 |
- |
1 |
11-47359046-G-A |
c.2498C>T |
p.Ala833Val |
Missense |
25/35 |
- |
7 |
11-47359047-C-T |
c.2497G>A |
p.Ala833Thr |
Missense |
25/35 |
- |
14 |
11-47359049-T-C |
c.2495A>G |
p.Glu832Gly |
Missense |
25/35 |
- |
1 |
11-47359053-G-A |
c.2491C>T |
p.His831Tyr |
Missense |
25/35 |
- |
1 |
11-47359054-A-AA |
c.2490dup |
p.His831Serfs*2 |
Frameshift |
25/35 |
- |
2 |
11-47359055-C-T |
c.2489G>A |
p.Ser830Asn |
Missense |
25/35 |
- |
1 |
11-47359057-C-A |
c.2487G>T |
p.Leu829Leu |
Synonymous |
25/35 |
- |
1 |
11-47359057-C-CC |
c.2487dup |
p.Ser830Glufs*3 |
Frameshift |
25/35 |
- |
1 |
11-47359065-G-A |
c.2479C>T |
p.Gln827* |
Nonsense |
25/35 |
- |
2 |
11-47359065-G-T |
c.2479C>A |
p.Gln827Lys |
Missense |
25/35 |
- |
1 |
11-47359085-C-G |
c.2459G>C |
p.Arg820Pro |
Missense |
25/35 |
- |
2 |
11-47359085-CG-GA |
c.2458_2459delinsTC |
p.Arg820Ser |
Missense |
25/35 |
- |
1 |
11-47359085-C-T |
c.2459G>A |
p.Arg820Gln |
Missense |
25/35 |
- |
14 |
11-47359086-CGCATC-C |
c.2455_2459del |
p.Met819Alafs*12 |
Frameshift |
25/35 |
- |
3 |
11-47359086-G-A |
c.2458C>T |
p.Arg820Trp |
Missense |
25/35 |
- |
14 |
11-47359090-C-T |
c.2454G>A |
p.Trp818* |
Nonsense |
25/35 |
- |
2 |
11-47359094-C-T |
c.2450G>A |
p.Arg817Gln |
Missense |
25/35 |
- |
1 |
11-47359095-G-C |
c.2449C>G |
p.Arg817Gly |
Missense |
25/35 |
- |
1 |
11-47359096-G-C |
c.2448C>G |
p.Tyr816* |
Nonsense |
25/35 |
- |
1 |
11-47359096-G-T |
c.2448C>A |
p.Tyr816* |
Nonsense |
25/35 |
- |
1 |
11-47359102-C-T |
c.2442G>A |
p.Lys814Lys |
Synonymous |
25/35 |
- |
1 |
11-47359109-T-C |
c.2435A>G |
p.Lys812Arg |
Missense |
25/35 |
- |
1 |
11-47359111-TCTT-T |
c.2441_2443del |
p.Lys814del |
InFrameDeletion |
25/35 |
- |
6 |
11-47359112-T-C |
c.2432A>G |
p.Lys811Arg |
Missense |
25/35 |
- |
1 |
11-47359115-C-A |
c.2429G>T |
p.Arg810Leu |
Missense |
25/35 |
- |
2 |
11-47359115-C-T |
c.2429G>A |
p.Arg810His |
Missense |
25/35 |
- |
12 |
11-47359205-C-G |
c.2413+36G>C |
- |
IntronicSNV |
- |
24/34 |
1 |
11-47359235-A-G |
c.2413+6T>C |
- |
IntronicSNV |
- |
24/34 |
1 |
11-47359240-C-T |
c.2413+1G>A |
- |
IntronicSNV |
- |
24/34 |
1 |
11-47359244-G-T |
c.2410C>A |
p.Leu804Met |
Missense |
24/35 |
- |
3 |
11-47359245-G-T |
c.2409C>A |
p.Ile803Ile |
Synonymous |
24/35 |
- |
1 |
11-47359272-GC-G |
c.2382del |
p.Pro795Leufs*27 |
Frameshift |
24/35 |
- |
1 |
11-47359273-G-A |
c.2381C>T |
p.Pro794Leu |
Missense |
24/35 |
- |
2 |
11-47359280-A-C |
c.2374T>G |
p.Trp792Gly |
Missense |
24/35 |
- |
1 |
11-47359280-A-G |
c.2374T>C |
p.Trp792Arg |
Missense |
24/35 |
- |
8 |
11-47359280-A-T |
c.2374T>A |
p.Trp792Arg |
Missense |
24/35 |
- |
7 |
11-47359281-C-CC |
c.2373dup |
p.Trp792Valfs*41 |
Frameshift |
24/35 |
- |
40 |
11-47359283-G-A |
c.2371C>T |
p.Gln791* |
Nonsense |
24/35 |
- |
2 |
11-47359298-C-A |
c.2356G>T |
p.Asp786Tyr |
Missense |
24/35 |
- |
2 |
11-47359307-C-A |
c.2347G>T |
p.Val783Leu |
Missense |
24/35 |
- |
2 |
11-47359322-G-A |
c.2332C>T |
p.Pro778Ser |
Missense |
24/35 |
- |
1 |
11-47359326-C-CC |
c.2329dup |
p.Ala777Glyfs*56 |
Frameshift |
24/35 |
- |
1 |
11-47359334-C-G |
c.2320G>C |
p.Ala774Pro |
Missense |
24/35 |
- |
1 |
11-47359334-C-T |
c.2320G>A |
p.Ala774Thr |
Missense |
24/35 |
- |
2 |
11-47359343-C-T |
c.2311G>A |
p.Val771Met |
Missense |
24/35 |
- |
7 |
11-47359345-T-C |
c.2309A>G |
p.Asp770Gly |
Missense |
24/35 |
- |
1 |
11-47359347-T-A |
c.2309-2A>T |
- |
IntronicSNV |
- |
23/34 |
1 |
11-47359347-T-C |
c.2309-2A>G |
- |
IntronicSNV |
- |
23/34 |
4 |
11-47359347-T-G |
c.2309-2A>C |
- |
IntronicSNV |
- |
23/34 |
1 |
11-47359354-G-T |
c.2309-9C>A |
- |
IntronicSNV |
- |
23/34 |
1 |
11-47359706-C-A |
c.2309-361G>T |
- |
IntronicSNV |
- |
23/34 |
5 |
11-47360032-C-T |
c.2308+39G>A |
- |
IntronicSNV |
- |
23/34 |
1 |
11-47360053-G-C |
c.2308+18C>G |
- |
IntronicSNV |
- |
23/34 |
2 |
11-47360059-G-A |
c.2308+12C>T |
- |
IntronicSNV |
- |
23/34 |
1 |
11-47360068-C-G |
c.2308+3G>C |
- |
IntronicSNV |
- |
23/34 |
2 |
11-47360070-C-A |
c.2308+1G>T |
- |
IntronicSNV |
- |
23/34 |
3 |
11-47360070-C-G |
c.2308+1G>C |
- |
IntronicSNV |
- |
23/34 |
3 |
11-47360070-C-T |
c.2308+1G>A |
- |
IntronicSNV |
- |
23/34 |
5 |
11-47360071-C-G |
c.2308G>C |
p.Asp770His |
Missense |
23/35 |
- |
2 |
11-47360071-C-T |
c.2308G>A |
p.Asp770Asn |
Missense |
23/35 |
- |
18 |
11-47360073-GA-G |
c.2306del |
p.Ile769Thrfs*53 |
Frameshift |
23/35 |
- |
1 |
11-47360093-GAC-ATG |
c.2284_2286delinsCAT |
p.Val762His |
Missense |
23/35 |
- |
1 |
11-47360094-A-T |
c.2285T>A |
p.Val762Asp |
Missense |
23/35 |
- |
3 |
11-47360102-C-T |
c.2277G>A |
p.Glu759Glu |
Synonymous |
23/35 |
- |
1 |
11-47360105-G-A |
c.2274C>T |
p.Gly758Gly |
Synonymous |
23/35 |
- |
2 |
11-47360106-C-T |
c.2273G>A |
p.Gly758Asp |
Missense |
23/35 |
- |
4 |
11-47360110-C-T |
c.2269G>A |
p.Val757Met |
Missense |
23/35 |
- |
1 |
11-47360114-GG-G |
c.2267del |
p.Pro756Leufs*66 |
Frameshift |
23/35 |
- |
1 |
11-47360114-G-T |
c.2265C>A |
p.Asn755Lys |
Missense |
23/35 |
- |
6 |
11-47360117-C-CC |
c.2262dup |
p.Asn755Glufs*78 |
Frameshift |
23/35 |
- |
1 |
11-47360121-A-AA |
c.2258dup |
p.Lys754Glufs*79 |
Frameshift |
23/35 |
- |
3 |
11-47360132-G-C |
c.2247C>G |
p.Tyr749* |
Nonsense |
23/35 |
- |
1 |
11-47360132-G-T |
c.2247C>A |
p.Tyr749* |
Nonsense |
23/35 |
- |
1 |
11-47360142-CT-C |
c.2237del |
p.Glu746Glyfs*8 |
Frameshift |
23/35 |
- |
1 |
11-47360144-CATC-C |
c.2235_2237del |
p.Asp745del |
InFrameDeletion |
23/35 |
- |
2 |
11-47360145-T-C |
c.2234A>G |
p.Asp745Gly |
Missense |
23/35 |
- |
8 |
11-47360151-T-A |
c.2228A>T |
p.Lys743Met |
Missense |
23/35 |
- |
1 |
11-47360156-T-TC |
c.2222_2223insG |
p.Glu742Argfs*5 |
Frameshift |
23/35 |
- |
1 |
11-47360168-C-A |
c.2211G>T |
p.Thr737Thr |
Synonymous |
23/35 |
- |
1 |
11-47360169-G-A |
c.2210C>T |
p.Thr737Met |
Missense |
23/35 |
- |
1 |
11-47360181-C-A |
c.2198G>T |
p.Arg733Leu |
Missense |
23/35 |
- |
2 |
11-47360181-C-T |
c.2198G>A |
p.Arg733His |
Missense |
23/35 |
- |
3 |
11-47360182-G-A |
c.2197C>T |
p.Arg733Cys |
Missense |
23/35 |
- |
1 |
11-47360183-G-A |
c.2196C>T |
p.Asp732Asp |
Synonymous |
23/35 |
- |
1 |
11-47360190-GG-G |
c.2190del |
p.Lys731Argfs*23 |
Frameshift |
23/35 |
- |
1 |
11-47360197-C-A |
c.2182G>T |
p.Glu728* |
Nonsense |
23/35 |
- |
1 |
11-47360200-C-T |
c.2179G>A |
p.Val727Met |
Missense |
23/35 |
- |
1 |
11-47360201-G-C |
c.2178C>G |
p.Arg726Arg |
Synonymous |
23/35 |
- |
1 |
11-47360202-C-T |
c.2177G>A |
p.Arg726His |
Missense |
23/35 |
- |
2 |
11-47360203-G-A |
c.2176C>T |
p.Arg726Cys |
Missense |
23/35 |
- |
3 |
11-47360209-G-A |
c.2170C>T |
p.Arg724Trp |
Missense |
23/35 |
- |
2 |
11-47360215-C-A |
c.2164G>T |
p.Glu722* |
Nonsense |
23/35 |
- |
1 |
11-47360227-G-A |
c.2152C>T |
p.Leu718Leu |
Synonymous |
23/35 |
- |
1 |
11-47360226-CA-C |
c.2153del |
p.Leu718Argfs*36 |
Frameshift |
23/35 |
- |
1 |
11-47360231-C-A |
c.2149-1G>T |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360231-C-T |
c.2149-1G>A |
- |
IntronicSNV |
- |
22/34 |
2 |
11-47360232-CT-C |
c.2149-2del |
- |
IntronicDeletion |
- |
22/34 |
2 |
11-47360233-G-C |
c.2149-3C>G |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360235-G-A |
c.2149-5C>T |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360238-G-A |
c.2149-8C>T |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360261-A-G |
c.2149-31T>C |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360412-T-C |
c.2149-182A>G |
- |
IntronicSNV |
- |
22/34 |
5 |
11-47360412-T-G |
c.2149-182A>C |
- |
IntronicSNV |
- |
22/34 |
5 |
11-47360825-G-A |
c.2148+50C>T |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360829-G-A |
c.2148+46C>T |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360849-C-T |
c.2148+26G>A |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360851-C-T |
c.2148+24G>A |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360871-CTCAC-C |
c.2148+6_2148+9del |
- |
IntronicDeletion |
- |
22/34 |
1 |
11-47360872-C-T |
c.2148+3G>A |
- |
IntronicSNV |
- |
22/34 |
1 |
11-47360888-A-G |
c.2135T>C |
p.Val712Ala |
Missense |
22/35 |
- |
1 |
11-47360895-C-T |
c.2128G>A |
p.Glu710Lys |
Missense |
22/35 |
- |
2 |
11-47360899-G-A |
c.2124C>T |
p.Ser708Ser |
Synonymous |
22/35 |
- |
1 |
11-47360910-T-TT |
c.2113dup |
p.Thr705Asnfs*3 |
Frameshift |
22/35 |
- |
1 |
11-47360916-C-G |
c.2107G>C |
p.Glu703Gln |
Missense |
22/35 |
- |
1 |
11-47360922-C-T |
c.2101G>A |
p.Ala701Thr |
Missense |
22/35 |
- |
2 |
11-47360927-G-T |
c.2096C>A |
p.Pro699Gln |
Missense |
22/35 |
- |
1 |
11-47360930-GG-G |
c.2096del |
p.Pro699Glnfs*55 |
Frameshift |
22/35 |
- |
2 |
11-47360930-G-T |
c.2093C>A |
p.Ala698Asp |
Missense |
22/35 |
- |
1 |
11-47360946-C-A |
c.2077G>T |
p.Ala693Ser |
Missense |
22/35 |
- |
2 |
11-47360980-A-C |
c.2068-25T>G |
- |
IntronicSNV |
- |
21/34 |
1 |
11-47361084-T-C |
c.2067+118A>G |
- |
IntronicSNV |
- |
21/34 |
2 |
11-47361201-C-T |
c.2067+1G>A |
- |
IntronicSNV |
- |
21/34 |
1 |
11-47361206-G-A |
c.2063C>T |
p.Thr688Met |
Missense |
21/35 |
- |
1 |
11-47361206-G-T |
c.2063C>A |
p.Thr688Lys |
Missense |
21/35 |
- |
2 |
11-47361213-C-G |
c.2056G>C |
p.Ala686Pro |
Missense |
21/35 |
- |
1 |
11-47361220-C-T |
c.2049G>A |
p.Trp683* |
Nonsense |
21/35 |
- |
1 |
11-47361239-G-A |
c.2030C>T |
p.Pro677Leu |
Missense |
21/35 |
- |
1 |
11-47361251-A-G |
c.2018T>C |
p.Ile673Thr |
Missense |
21/35 |
- |
1 |
11-47361253-A-T |
c.2016T>A |
p.Pro672Pro |
Synonymous |
21/35 |
- |
1 |
11-47361254-AGGGA-A |
c.2013_2016del |
p.Pro672Serfs*9 |
Frameshift |
21/35 |
- |
1 |
11-47361256-GG-G |
c.2015del |
p.Pro672Leufs*10 |
Frameshift |
21/35 |
- |
1 |
11-47361259-G-A |
c.2010C>T |
p.Asp670Asp |
Synonymous |
21/35 |
- |
1 |
11-47361266-C-G |
c.2003G>C |
p.Arg668Pro |
Missense |
21/35 |
- |
2 |
11-47361266-C-T |
c.2003G>A |
p.Arg668His |
Missense |
21/35 |
- |
4 |
11-47361267-G-A |
c.2002C>T |
p.Arg668Cys |
Missense |
21/35 |
- |
2 |
11-47361284-A-G |
c.1985T>C |
p.Val662Ala |
Missense |
21/35 |
- |
3 |
11-47361291-C-A |
c.1978G>T |
p.Val660Leu |
Missense |
21/35 |
- |
2 |
11-47361291-C-T |
c.1978G>A |
p.Val660Met |
Missense |
21/35 |
- |
1 |
11-47361308-C-T |
c.1961G>A |
p.Arg654His |
Missense |
21/35 |
- |
5 |
11-47361309-G-A |
c.1960C>T |
p.Arg654Cys |
Missense |
21/35 |
- |
6 |
11-47361314-G-C |
c.1955C>G |
p.Pro652Arg |
Missense |
21/35 |
- |
1 |
11-47361319-G-C |
c.1950C>G |
p.Asp650Glu |
Missense |
21/35 |
- |
1 |
11-47361323-A-AA |
c.1946dup |
p.Asp650Glyfs*17 |
Frameshift |
21/35 |
- |
1 |
11-47361343-T-C |
c.1928-2A>G |
- |
IntronicSNV |
- |
20/34 |
12 |
11-47361357-T-C |
c.1928-16A>G |
- |
IntronicSNV |
- |
20/34 |
1 |
11-47361369-A-G |
c.1928-28T>C |
- |
IntronicSNV |
- |
20/34 |
1 |
11-47361381-C-T |
c.1928-40G>A |
- |
IntronicSNV |
- |
20/34 |
1 |
11-47362339-G-A |
c.1927+215C>T |
- |
IntronicSNV |
- |
20/34 |
4 |
11-47362511-G-A |
c.1927+43C>T |
- |
IntronicSNV |
- |
20/34 |
1 |
11-47362546-A-G |
c.1927+8T>C |
- |
IntronicSNV |
- |
20/34 |
1 |
11-47362566-C-T |
c.1915G>A |
p.Val639Ile |
Missense |
20/35 |
- |
1 |
11-47362567-G-A |
c.1914C>T |
p.Phe638Phe |
Synonymous |
20/35 |
- |
1 |
11-47362619-A-G |
c.1898-36T>C |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362621-G-A |
c.1898-38C>T |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362625-G-T |
c.1898-42C>A |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362641-G-C |
c.1897+48C>G |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362648-G-T |
c.1897+41C>A |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362665-C-A |
c.1897+24G>T |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362674-C-G |
c.1897+15G>C |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362684-C-T |
c.1897+5G>A |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362685-T-G |
c.1897+4A>C |
- |
IntronicSNV |
- |
19/34 |
1 |
11-47362701-G-A |
c.1885C>T |
p.Leu629Phe |
Missense |
19/35 |
- |
1 |
11-47362706-G-A |
c.1880C>T |
p.Ala627Val |
Missense |
19/35 |
- |
4 |
11-47362731-C-T |
c.1855G>A |
p.Glu619Lys |
Missense |
19/35 |
- |
7 |
11-47362734-G-A |
c.1852C>T |
p.Pro618Ser |
Missense |
19/35 |
- |
1 |
11-47362735-CAC-TTT |
c.1849_1851delinsAAA |
p.Val617Lys |
Missense |
19/35 |
- |
1 |
11-47362736-A-C |
c.1850T>G |
p.Val617Gly |
Missense |
19/35 |
- |
1 |
11-47362755-C-T |
c.1831G>A |
p.Glu611Lys |
Missense |
19/35 |
- |
2 |
11-47362756-G-A |
c.1830C>T |
p.Asp610Asp |
Synonymous |
19/35 |
- |
1 |
11-47362757-T-A |
c.1829A>T |
p.Asp610Val |
Missense |
19/35 |
- |
1 |
11-47362758-C-G |
c.1828G>C |
p.Asp610His |
Missense |
19/35 |
- |
4 |
11-47362758-C-T |
c.1828G>A |
p.Asp610Asn |
Missense |
19/35 |
- |
3 |
11-47362759-G-A |
c.1827C>T |
p.Ala609Ala |
Synonymous |
19/35 |
- |
1 |
11-47362759-G-C |
c.1827C>G |
p.Ala609Ala |
Synonymous |
19/35 |
- |
1 |
11-47362763-G-A |
c.1823C>T |
p.Pro608Leu |
Missense |
19/35 |
- |
2 |
11-47362764-G-A |
c.1822C>T |
p.Pro608Ser |
Missense |
19/35 |
- |
2 |
11-47362764-G-C |
c.1822C>G |
p.Pro608Ala |
Missense |
19/35 |
- |
1 |
11-47362770-C-T |
c.1816G>A |
p.Val606Ile |
Missense |
19/35 |
- |
1 |
11-47362772-T-C |
c.1814A>G |
p.Asp605Gly |
Missense |
19/35 |
- |
4 |
11-47362773-C-T |
c.1813G>A |
p.Asp605Asn |
Missense |
19/35 |
- |
2 |
11-47362774-CGTC-C |
c.1814_1816del |
p.Asp605del |
InFrameDeletion |
19/35 |
- |
4 |
11-47362775-T-A |
c.1811A>T |
p.Asp604Val |
Missense |
19/35 |
- |
2 |
11-47362778-A-G |
c.1808T>C |
p.Ile603Thr |
Missense |
19/35 |
- |
2 |
11-47362779-T-C |
c.1807A>G |
p.Ile603Val |
Missense |
19/35 |
- |
2 |
11-47362781-G-A |
c.1805C>T |
p.Thr602Ile |
Missense |
19/35 |
- |
3 |
11-47362783-C-T |
c.1803G>A |
p.Leu601Leu |
Synonymous |
19/35 |
- |
1 |
11-47362788-T-TA |
c.1797_1798insT |
p.Lys600* |
Nonsense |
19/35 |
- |
1 |
11-47362788-TT-T |
c.1800del |
p.Lys600Asnfs*2 |
Frameshift |
19/35 |
- |
2 |
11-47362793-AC-AG |
c.1792delinsC |
p.Val598Leu |
Missense |
19/35 |
- |
1 |
11-47362794-C-CT |
c.1791_1792insA |
p.Val598Serfs*7 |
SpliceAcceptorInsertion |
19/35 |
- |
1 |
11-47362806-G-T |
c.1791-11C>A |
- |
IntronicSNV |
- |
18/34 |
1 |
11-47363215-G-A |
c.1790+327C>T |
- |
IntronicSNV |
- |
18/34 |
1 |
11-47363215-G-T |
c.1790+327C>A |
- |
IntronicSNV |
- |
18/34 |
1 |
11-47363285-G-A |
c.1790+257C>T |
- |
IntronicSNV |
- |
18/34 |
4 |
11-47363537-C-T |
c.1790+5G>A |
- |
IntronicSNV |
- |
18/34 |
2 |
11-47363542-C-T |
c.1790G>A |
p.Arg597Gln |
Missense |
18/35 |
- |
10 |
11-47362795-C-A |
c.1791G>T |
p.Arg597Arg |
Synonymous |
19/35 |
- |
1 |
11-47362795-C-T |
c.1791G>A |
p.Arg597Arg |
Synonymous |
19/35 |
- |
1 |
11-47363543-G-A |
c.1789C>T |
p.Arg597Trp |
Missense |
18/35 |
- |
2 |
11-47363546-C-T |
c.1786G>A |
p.Gly596Arg |
Missense |
18/35 |
- |
1 |
11-47363549-T-C |
c.1783A>G |
p.Ile595Val |
Missense |
18/35 |
- |
1 |
11-47363554-G-A |
c.1778C>T |
p.Ser593Phe |
Missense |
18/35 |
- |
1 |
11-47363554-GG-G |
c.1780del |
p.His594Thrfs*8 |
Frameshift |
18/35 |
- |
1 |
11-47363555-GA-G |
c.1777del |
p.Ser593Profs*9 |
Frameshift |
18/35 |
- |
3 |
11-47363556-C-A |
c.1776G>T |
p.Val592Val |
Synonymous |
18/35 |
- |
1 |
11-47363557-CA-C |
c.1775del |
p.Val592Glyfs*10 |
Frameshift |
18/35 |
- |
2 |
11-47363557-CAC-C |
c.1776_1777del |
p.Ser593Profs*11 |
Frameshift |
18/35 |
- |
2 |
11-47363566-C-T |
c.1766G>A |
p.Arg589His |
Missense |
18/35 |
- |
2 |
11-47363606-C-T |
c.1726G>A |
p.Val576Met |
Missense |
18/35 |
- |
1 |
11-47363611-C-T |
c.1721G>A |
p.Arg574Gln |
Missense |
18/35 |
- |
1 |
11-47363610-C-A |
c.1722G>T |
p.Arg574Arg |
Synonymous |
18/35 |
- |
1 |
11-47363613-A-C |
c.1719T>G |
p.Val573Val |
Synonymous |
18/35 |
- |
1 |
11-47363613-A-T |
c.1719T>A |
p.Val573Val |
Synonymous |
18/35 |
- |
1 |
11-47363632-CTC-C |
c.1700_1701del |
p.Glu567Glyfs*4 |
Frameshift |
18/35 |
- |
5 |
11-47363634-A-AA |
c.1698dup |
p.Glu567* |
Nonsense |
18/35 |
- |
2 |
11-47363636-A-G |
c.1696T>C |
p.Cys566Arg |
Missense |
18/35 |
- |
1 |
11-47363636-A-T |
c.1696T>A |
p.Cys566Ser |
Missense |
18/35 |
- |
2 |
11-47363639-T-A |
c.1693A>T |
p.Lys565* |
Nonsense |
18/35 |
- |
1 |
11-47363647-G-A |
c.1685C>T |
p.Ala562Val |
Missense |
18/35 |
- |
2 |
11-47363661-CGC-C |
c.1672_1673del |
p.Ala558Lysfs*9 |
Frameshift |
18/35 |
- |
1 |
11-47363661-G-A |
c.1671C>T |
p.Gly557Gly |
Synonymous |
18/35 |
- |
1 |
11-47363662-C-T |
c.1670G>A |
p.Gly557Asp |
Missense |
18/35 |
- |
1 |
11-47363663-C-T |
c.1669G>A |
p.Gly557Ser |
Missense |
18/35 |
- |
2 |
11-47363664-C-CC |
c.1670dup |
p.Ala558Argfs*10 |
Frameshift |
18/35 |
- |
1 |
11-47363668-A-G |
c.1664T>C |
p.Met555Thr |
Missense |
18/35 |
- |
3 |
11-47363679-G-A |
c.1653C>T |
p.Ile551Ile |
Synonymous |
18/35 |
- |
1 |
11-47363691-C-G |
c.1641G>C |
p.Val547Val |
Synonymous |
18/35 |
- |
1 |
11-47363692-CAC-C |
c.1641_1642del |
p.Tyr548Profs*19 |
Frameshift |
18/35 |
- |
1 |
11-47363693-C-T |
c.1639G>A |
p.Val547Met |
Missense |
18/35 |
- |
1 |
11-47363699-G-T |
c.1633C>A |
p.Leu545Met |
Missense |
18/35 |
- |
4 |
11-47363705-T-TA |
c.1626_1627insT |
p.Lys543* |
SpliceAcceptorInsertion |
18/35 |
- |
1 |
11-47363705-T-TC |
c.1626_1627insG |
p.Lys543Glufs*25 |
SpliceAcceptorInsertion |
18/35 |
- |
1 |
11-47363705-T-TG |
c.1626_1627insC |
p.Lys543Glnfs*25 |
SpliceAcceptorInsertion |
18/35 |
- |
1 |
11-47363707-TT-T |
c.1628del |
p.Lys543Argfs*12 |
Frameshift |
18/35 |
- |
1 |
11-47363714-G-T |
c.1625-7C>A |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47363719-G-A |
c.1625-12C>T |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47363746-T-C |
c.1625-39A>G |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47364108-T-A |
c.1624+21A>T |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47364110-C-T |
c.1624+19G>A |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47364114-C-G |
c.1624+15G>C |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47364120-C-T |
c.1624+9G>A |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47364124-C-A |
c.1624+5G>T |
- |
IntronicSNV |
- |
17/34 |
1 |
11-47364125-T-A |
c.1624+4A>T |
- |
IntronicSNV |
- |
17/34 |
6 |
11-47364128-C-T |
c.1624+1G>A |
- |
IntronicSNV |
- |
17/34 |
2 |
11-47364129-C-A |
c.1624G>T |
p.Glu542* |
Nonsense |
17/35 |
- |
2 |
11-47364129-CCC-C |
c.1624_1624+1del |
- |
SpliceDonorDeletion |
17/35 |
- |
1 |
11-47364129-C-G |
c.1624G>C |
p.Glu542Gln |
Missense |
17/35 |
- |
28 |
11-47364132-G-A |
c.1621C>T |
p.Gln541* |
Nonsense |
17/35 |
- |
1 |
11-47364138-T-C |
c.1615A>G |
p.Ile539Val |
Missense |
17/35 |
- |
1 |
11-47364139-TG-T |
c.1614del |
p.Ile539Leufs*16 |
Frameshift |
17/35 |
- |
1 |
11-47364145-A-T |
c.1608T>A |
p.Ala536Ala |
Synonymous |
17/35 |
- |
4 |
11-47364149-A-G |
c.1604T>C |
p.Leu535Pro |
Missense |
17/35 |
- |
1 |
11-47364151-C-G |
c.1602G>C |
p.Ala534Ala |
Synonymous |
17/35 |
- |
1 |
11-47364152-CGC-C |
c.1602_1603del |
p.Leu535Glyfs*2 |
Frameshift |
17/35 |
- |
1 |
11-47364155-T-C |
c.1598A>G |
p.Gln533Arg |
Missense |
17/35 |
- |
1 |
11-47364159-C-G |
c.1594G>C |
p.Gly532Arg |
Missense |
17/35 |
- |
1 |
11-47364160-C-T |
c.1593G>A |
p.Gly531Gly |
Synonymous |
17/35 |
- |
1 |
11-47364162-C-G |
c.1591G>C |
p.Gly531Arg |
Missense |
17/35 |
- |
13 |
11-47364162-C-T |
c.1591G>A |
p.Gly531Arg |
Missense |
17/35 |
- |
10 |
11-47364163-G-A |
c.1590C>T |
p.Ser530Ser |
Synonymous |
17/35 |
- |
1 |
11-47364164-C-T |
c.1589G>A |
p.Ser530Asn |
Missense |
17/35 |
- |
1 |
11-47364178-A-C |
c.1575T>G |
p.Tyr525* |
Nonsense |
17/35 |
- |
2 |
11-47364179-T-G |
c.1574A>C |
p.Tyr525Ser |
Missense |
17/35 |
- |
2 |
11-47364180-A-G |
c.1573T>C |
p.Tyr525His |
Missense |
17/35 |
- |
2 |
11-47364186-C-G |
c.1567G>C |
p.Gly523Arg |
Missense |
17/35 |
- |
1 |
11-47364186-C-T |
c.1567G>A |
p.Gly523Arg |
Missense |
17/35 |
- |
1 |
11-47364188-G-A |
c.1565C>T |
p.Ala522Val |
Missense |
17/35 |
- |
3 |
11-47364189-C-T |
c.1564G>A |
p.Ala522Thr |
Missense |
17/35 |
- |
14 |
11-47364190-G-A |
c.1563C>T |
p.Asp521Asp |
Synonymous |
17/35 |
- |
1 |
11-47364194-T-C |
c.1559A>G |
p.Glu520Gly |
Missense |
17/35 |
- |
1 |
11-47364195-C-T |
c.1558G>A |
p.Glu520Lys |
Missense |
17/35 |
- |
1 |
11-47364196-C-T |
c.1557G>A |
p.Leu519Leu |
Synonymous |
17/35 |
- |
1 |
11-47364209-GTTG-G |
c.1543_1545del |
p.Asn515del |
InFrameDeletion |
17/35 |
- |
2 |
11-47364209-T-C |
c.1544A>G |
p.Asn515Ser |
Missense |
17/35 |
- |
2 |
11-47364210-T-C |
c.1543A>G |
p.Asn515Asp |
Missense |
17/35 |
- |
1 |
11-47364217-C-T |
c.1536G>A |
p.Leu512Leu |
Synonymous |
17/35 |
- |
1 |
11-47364218-A-T |
c.1535T>A |
p.Leu512Gln |
Missense |
17/35 |
- |
1 |
11-47364227-CT-CA |
c.1525delinsT |
p.Arg509* |
Missense |
17/35 |
- |
1 |
11-47364231-G-A |
c.1522C>T |
p.Gln508* |
Nonsense |
17/35 |
- |
2 |
11-47364231-G-C |
c.1522C>G |
p.Gln508Glu |
Missense |
17/35 |
- |
1 |
11-47364234-C-T |
c.1519G>A |
p.Gly507Arg |
Missense |
17/35 |
- |
18 |
11-47364238-CC-C |
c.1516del |
p.Asp506Thrfs*7 |
Frameshift |
17/35 |
- |
2 |
11-47364241-C-G |
c.1512G>C |
p.Lys504Asn |
Missense |
17/35 |
- |
1 |
11-47364241-TCTT-T |
c.1513_1515del |
p.Lys505del |
InFrameDeletion |
17/35 |
- |
4 |
11-47364245-GAACCG-G |
c.1505_1509del |
p.Arg502Glnfs*27 |
Frameshift |
17/35 |
- |
1 |
11-47364248-C-A |
c.1505G>T |
p.Arg502Leu |
Missense |
17/35 |
- |
2 |
11-47364248-C-T |
c.1505G>A |
p.Arg502Gln |
Missense |
17/35 |
- |
13 |
11-47364249-G-A |
c.1504C>T |
p.Arg502Trp |
Missense |
17/35 |
- |
43 |
11-47364269-C-T |
c.1484G>A |
p.Arg495Gln |
Missense |
17/35 |
- |
18 |
11-47364270-G-A |
c.1483C>T |
p.Arg495Trp |
Missense |
17/35 |
- |
6 |
11-47364270-G-C |
c.1483C>G |
p.Arg495Gly |
Missense |
17/35 |
- |
9 |
11-47364270-G-T |
c.1483C>A |
p.Arg495Arg |
Synonymous |
17/35 |
- |
2 |
11-47364271-G-C |
c.1482C>G |
p.Thr494Thr |
Synonymous |
17/35 |
- |
1 |
11-47364272-G-A |
c.1481C>T |
p.Thr494Ile |
Missense |
17/35 |
- |
3 |
11-47364282-C-T |
c.1471G>A |
p.Val491Met |
Missense |
17/35 |
- |
4 |
11-47364284-C-A |
c.1469G>T |
p.Gly490Val |
Missense |
17/35 |
- |
3 |
11-47364285-CC-C |
c.1471del |
p.Val491Trpfs*3 |
Frameshift |
17/35 |
- |
1 |
11-47364285-C-G |
c.1468G>C |
p.Gly490Arg |
Missense |
17/35 |
- |
12 |
11-47364285-C-T |
c.1468G>A |
p.Gly490Arg |
Missense |
17/35 |
- |
15 |
11-47364287-T-A |
c.1466A>T |
p.Asp489Val |
Missense |
17/35 |
- |
1 |
11-47364296-C-G |
c.1458-1G>C |
- |
IntronicSNV |
- |
16/34 |
3 |
11-47364296-C-T |
c.1458-1G>A |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364301-C-T |
c.1458-6G>A |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364302-G-T |
c.1458-7C>A |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364308-G-A |
c.1458-13C>T |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364312-G-C |
c.1458-17C>G |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364321-G-C |
c.1458-26C>G |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364357-CATGCCCCGTGCTTCTGGAAC-C |
c.1457+6_1457+25del |
- |
IntronicDeletion |
- |
16/34 |
1 |
11-47364376-C-G |
c.1457+5G>C |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364376-C-T |
c.1457+5G>A |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364378-C-G |
c.1457+3G>C |
- |
IntronicSNV |
- |
16/34 |
1 |
11-47364381-C-T |
c.1457G>A |
p.Trp486* |
Nonsense |
16/35 |
- |
2 |
11-47364393-G-A |
c.1445C>T |
p.Ala482Val |
Missense |
16/35 |
- |
1 |
11-47364405-G-A |
c.1433C>T |
p.Ser478Leu |
Missense |
16/35 |
- |
1 |
11-47364407-T-G |
c.1431A>C |
p.Val477Val |
Synonymous |
16/35 |
- |
1 |
11-47364414-C-G |
c.1424G>C |
p.Cys475Ser |
Missense |
16/35 |
- |
1 |
11-47364415-A-G |
c.1423T>C |
p.Cys475Arg |
Missense |
16/35 |
- |
1 |
11-47364415-A-T |
c.1423T>A |
p.Cys475Ser |
Missense |
16/35 |
- |
1 |
11-47364416-ACTC-A |
c.1420_1422del |
p.Glu474del |
InFrameDeletion |
16/35 |
- |
1 |
11-47364416-ACTCA-A |
c.1421_1424del |
p.Glu474Valfs*13 |
Frameshift |
16/35 |
- |
1 |
11-47364416-C-A |
c.1422G>T |
p.Glu474Asp |
Missense |
16/35 |
- |
1 |
11-47364416-C-G |
c.1422G>C |
p.Glu474Asp |
Missense |
16/35 |
- |
1 |
11-47364419-CAAACTC-C |
c.1418_1423del |
p.Phe473_Glu474del |
InFrameDeletion |
16/35 |
- |
1 |
11-47364429-C-G |
c.1409G>C |
p.Arg470Pro |
Missense |
16/35 |
- |
1 |
11-47364429-C-T |
c.1409G>A |
p.Arg470Gln |
Missense |
16/35 |
- |
5 |
11-47364430-G-A |
c.1408C>T |
p.Arg470Trp |
Missense |
16/35 |
- |
2 |
11-47364433-G-A |
c.1405C>T |
p.Gln469* |
Nonsense |
16/35 |
- |
1 |
11-47364435-C-T |
c.1403G>A |
p.Gly468Glu |
Missense |
16/35 |
- |
1 |
11-47364443-C-A |
c.1395G>T |
p.Val465Val |
Synonymous |
16/35 |
- |
1 |
11-47364451-G-A |
c.1387C>T |
p.Gln463* |
Nonsense |
16/35 |
- |
1 |
11-47364457-C-A |
c.1381G>T |
p.Glu461* |
Nonsense |
16/35 |
- |
1 |
11-47364459-CAAGGGGCGCGTGATGAGCACAGGGGGCT-C |
c.1352_1379del |
p.Glu451Glyfs*6 |
SpliceAcceptorDeletion |
16/35 |
- |
1 |
11-47364464-GG-G |
c.1377del |
p.Leu460Trpfs*6 |
Frameshift |
16/35 |
- |
2 |
11-47364465-C-T |
c.1373G>A |
p.Arg458His |
Missense |
16/35 |
- |
4 |
11-47364468-G-A |
c.1370C>T |
p.Thr457Met |
Missense |
16/35 |
- |
2 |
11-47364475-G-A |
c.1363C>T |
p.Leu455Phe |
Missense |
16/35 |
- |
1 |
11-47364479-CAG-C |
c.1358_1359del |
p.Pro453Argfs*21 |
Frameshift |
16/35 |
- |
3 |
11-47364483-GGG-G |
c.1357_1358del |
p.Pro453Cysfs*21 |
Frameshift |
16/35 |
- |
4 |
11-47364484-G-GG |
c.1358dup |
p.Val454Cysfs*21 |
Frameshift |
16/35 |
- |
7 |
11-47364491-C-T |
c.1352-5G>A |
- |
IntronicSNV |
- |
15/34 |
1 |
11-47364515-G-T |
c.1352-29C>A |
- |
IntronicSNV |
- |
15/34 |
1 |
11-47364519-C-G |
c.1352-33G>C |
- |
IntronicSNV |
- |
15/34 |
1 |
11-47364550-C-A |
c.1351+22G>T |
- |
IntronicSNV |
- |
15/34 |
1 |
11-47364571-C-G |
c.1351+1G>C |
- |
IntronicSNV |
- |
15/34 |
1 |
11-47364571-C-T |
c.1351+1G>A |
- |
IntronicSNV |
- |
15/34 |
4 |
11-47364572-C-G |
c.1351G>C |
p.Glu451Gln |
Missense |
15/35 |
- |
5 |
11-47364580-A-G |
c.1343T>C |
p.Phe448Ser |
Missense |
15/35 |
- |
3 |
11-47364582-AG-A |
c.1341del |
p.Phe448Leufs*2 |
Frameshift |
15/35 |
- |
1 |
11-47364589-G-A |
c.1334C>T |
p.Thr445Met |
Missense |
15/35 |
- |
1 |
11-47364590-T-C |
c.1333A>G |
p.Thr445Ala |
Missense |
15/35 |
- |
1 |
11-47364602-C-T |
c.1321G>A |
p.Glu441Lys |
Missense |
15/35 |
- |
12 |
11-47364603-G-A |
c.1320C>T |
p.Gly440Gly |
Synonymous |
15/35 |
- |
1 |
11-47364604-C-T |
c.1319G>A |
p.Gly440Asp |
Missense |
15/35 |
- |
1 |
11-47364613-CA-C |
c.1310del |
p.Val437Glyfs*13 |
Frameshift |
15/35 |
- |
2 |
11-47364614-C-A |
c.1309G>T |
p.Val437Leu |
Missense |
15/35 |
- |
2 |
11-47364614-C-T |
c.1309G>A |
p.Val437Met |
Missense |
15/35 |
- |
4 |
11-47364615-G-T |
c.1308C>A |
p.Cys436* |
Nonsense |
15/35 |
- |
2 |
11-47364620-G-A |
c.1303C>T |
p.Gln435* |
Nonsense |
15/35 |
- |
2 |
11-47364621-G-A |
c.1302C>T |
p.Tyr434Tyr |
Synonymous |
15/35 |
- |
1 |
11-47364621-G-C |
c.1302C>G |
p.Tyr434* |
Nonsense |
15/35 |
- |
1 |
11-47364621-G-T |
c.1302C>A |
p.Tyr434* |
Nonsense |
15/35 |
- |
1 |
11-47364630-G-A |
c.1293C>T |
p.Asp431Asp |
Synonymous |
15/35 |
- |
2 |
11-47364633-CGTC-C |
c.1292_1294del |
p.Asp431del |
InFrameDeletion |
15/35 |
- |
1 |
11-47364637-G-A |
c.1286C>T |
p.Ala429Val |
Missense |
15/35 |
- |
4 |
11-47364641-A-G |
c.1282T>C |
p.Leu428Leu |
Synonymous |
15/35 |
- |
1 |
11-47364650-G-A |
c.1273C>T |
p.Gln425* |
Nonsense |
15/35 |
- |
3 |
11-47364668-G-A |
c.1255C>T |
p.Arg419Cys |
Missense |
15/35 |
- |
1 |
11-47364677-C-T |
c.1246G>A |
p.Gly416Ser |
Missense |
15/35 |
- |
8 |
11-47364685-TC-AG |
c.1237_1238delinsCT |
p.Glu413Leu |
Missense |
15/35 |
- |
1 |
11-47364686-C-T |
c.1237G>A |
p.Glu413Lys |
Missense |
15/35 |
- |
1 |
11-47364688-AAA-A |
c.1235_1236del |
p.Phe412* |
Frameshift |
15/35 |
- |
3 |
11-47364705-G-T |
c.1227-9C>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364709-C-T |
c.1227-13G>A |
- |
IntronicSNV |
- |
14/34 |
2 |
11-47364710-G-T |
c.1227-14C>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364715-G-T |
c.1227-19C>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364721-G-T |
c.1227-25C>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364728-A-T |
c.1227-32T>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364738-A-T |
c.1227-42T>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364740-C-T |
c.1227-44G>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364745-C-T |
c.1227-49G>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364746-G-A |
c.1227-50C>T |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364748-G-A |
c.1227-52C>T |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364757-G-A |
c.1226+54C>T |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364762-A-C |
c.1226+49T>G |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364762-A-G |
c.1226+49T>C |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364777-C-T |
c.1226+34G>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364782-C-T |
c.1226+29G>A |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364805-A-G |
c.1226+6T>C |
- |
IntronicSNV |
- |
14/34 |
1 |
11-47364830-G-A |
c.1224-17C>T |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47364832-C-T |
c.1224-19G>A |
- |
IntronicSNV |
- |
13/34 |
4 |
11-47364833-G-A |
c.1224-20C>T |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47364851-G-C |
c.1224-38C>G |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47364859-T-C |
c.1224-46A>G |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47364865-C-T |
c.1224-52G>A |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47365014-C-A |
c.1223+29G>T |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47365014-C-T |
c.1223+29G>A |
- |
IntronicSNV |
- |
13/34 |
2 |
11-47365022-C-G |
c.1223+21G>C |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47365029-A-C |
c.1223+14T>G |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47365041-A-C |
c.1223+2T>G |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47365041-A-G |
c.1223+2T>C |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47365042-C-A |
c.1223+1G>T |
- |
IntronicSNV |
- |
13/34 |
1 |
11-47365047-C-G |
c.1219G>C |
p.Gly407Arg |
Missense |
13/35 |
- |
1 |
11-47365047-C-T |
c.1219G>A |
p.Gly407Ser |
Missense |
13/35 |
- |
2 |
11-47365049-C-T |
c.1217G>A |
p.Ser406Asn |
Missense |
13/35 |
- |
1 |
11-47365053-T-C |
c.1213A>G |
p.Met405Val |
Missense |
13/35 |
- |
1 |
11-47365056-G-A |
c.1210C>T |
p.Gln404* |
Nonsense |
13/35 |
- |
1 |
11-47365066-G-GG |
c.1201dup |
p.Gln401Profs*13 |
Frameshift |
13/35 |
- |
1 |
11-47365092-C-T |
c.1174G>A |
p.Ala392Thr |
Missense |
13/35 |
- |
1 |
11-47365092-GC-G |
c.1174del |
p.Ala392Leufs*14 |
Frameshift |
13/35 |
- |
2 |
11-47365095-C-A |
c.1171G>T |
p.Asp391Tyr |
Missense |
13/35 |
- |
1 |
11-47365095-TC-T |
c.1171del |
p.Asp391Thrfs*15 |
Frameshift |
13/35 |
- |
1 |
11-47365099-GG-G |
c.1168del |
p.His390Metfs*16 |
Frameshift |
13/35 |
- |
2 |
11-47365100-T-A |
c.1166A>T |
p.Asp389Val |
Missense |
13/35 |
- |
4 |
11-47365101-C-CC |
c.1165dup |
p.Asp389Glyfs*3 |
Frameshift |
13/35 |
- |
1 |
11-47365102-A-AA |
c.1164dup |
p.Asp389* |
Nonsense |
13/35 |
- |
1 |
11-47365106-CAGTTCCACGGTCAGCC-C |
c.1153_1168del |
p.Val385Metfs*16 |
Frameshift |
13/35 |
- |
1 |
11-47365110-C-A |
c.1156G>T |
p.Glu386* |
Nonsense |
13/35 |
- |
1 |
11-47365110-C-T |
c.1156G>A |
p.Glu386Lys |
Missense |
13/35 |
- |
1 |
11-47365113-C-T |
c.1153G>A |
p.Val385Met |
Missense |
13/35 |
- |
4 |
11-47365114-G-T |
c.1152C>A |
p.Thr384Thr |
Synonymous |
13/35 |
- |
1 |
11-47365119-G-C |
c.1147C>G |
p.Leu383Val |
Missense |
13/35 |
- |
3 |
11-47365120-C-A |
c.1146G>T |
p.Arg382Arg |
Synonymous |
13/35 |
- |
1 |
11-47365122-G-A |
c.1144C>T |
p.Arg382Trp |
Missense |
13/35 |
- |
6 |
11-47365133-C-G |
c.1133G>C |
p.Gly378Ala |
Missense |
13/35 |
- |
1 |
11-47365142-A-T |
c.1124T>A |
p.Val375Glu |
Missense |
13/35 |
- |
1 |
11-47365143-C-T |
c.1123G>A |
p.Val375Met |
Missense |
13/35 |
- |
1 |
11-47365146-G-A |
c.1120C>T |
p.Gln374* |
Nonsense |
13/35 |
- |
1 |
11-47365146-G-C |
c.1120C>G |
p.Gln374Glu |
Missense |
13/35 |
- |
1 |
11-47365154-G-A |
c.1112C>T |
p.Pro371Leu |
Missense |
13/35 |
- |
1 |
11-47365154-G-C |
c.1112C>G |
p.Pro371Arg |
Missense |
13/35 |
- |
4 |
11-47365170-G-A |
c.1096C>T |
p.Gln366* |
Nonsense |
13/35 |
- |
1 |
11-47365183-C-T |
c.1091-8G>A |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47365187-C-T |
c.1091-12G>A |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47365199-G-A |
c.1091-24C>T |
- |
IntronicSNV |
- |
12/34 |
8 |
11-47365199-G-C |
c.1091-24C>G |
- |
IntronicSNV |
- |
12/34 |
7 |
11-47365208-C-T |
c.1091-33G>A |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47365750-T-G |
c.1091-575A>C |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47366095-G-T |
c.1091-920C>A |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47366329-CTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGG-C |
c.1091-1212_1091-1154del |
- |
Unclassified |
- |
12/34 |
1 |
11-47367305-G-A |
c.1090+453C>T |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47367728-C-T |
c.1090+30G>A |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47367729-T-C |
c.1090+29A>G |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47367739-C-A |
c.1090+19G>T |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47367757-C-A |
c.1090+1G>T |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47367757-C-T |
c.1090+1G>A |
- |
IntronicSNV |
- |
12/34 |
1 |
11-47367758-C-G |
c.1090G>C |
p.Ala364Pro |
Missense |
12/35 |
- |
1 |
11-47367758-C-T |
c.1090G>A |
p.Ala364Thr |
Missense |
12/35 |
- |
5 |
11-47367771-TCTC-T |
c.1075_1077del |
p.Glu359del |
InFrameDeletion |
12/35 |
- |
1 |
11-47367777-G-A |
c.1071C>T |
p.Arg357Arg |
Synonymous |
12/35 |
- |
1 |
11-47367782-T-A |
c.1066A>T |
p.Arg356Trp |
Missense |
12/35 |
- |
1 |
11-47367782-T-C |
c.1066A>G |
p.Arg356Gly |
Missense |
12/35 |
- |
1 |
11-47367792-G-C |
c.1056C>G |
p.Leu352Leu |
Synonymous |
12/35 |
- |
1 |
11-47367793-A-G |
c.1055T>C |
p.Leu352Pro |
Missense |
12/35 |
- |
1 |
11-47367798-TCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAG-T |
c.992_1050del |
p.Ser331* |
Frameshift |
12/35 |
- |
1 |
11-47367809-C-T |
c.1039G>A |
p.Gly347Ser |
Missense |
12/35 |
- |
1 |
11-47367810-G-A |
c.1038C>T |
p.Arg346Arg |
Synonymous |
12/35 |
- |
1 |
11-47367811-C-G |
c.1037G>C |
p.Arg346Pro |
Missense |
12/35 |
- |
1 |
11-47367813-C-CC |
c.1035dup |
p.Arg346Alafs*14 |
Frameshift |
12/35 |
- |
1 |
11-47367820-AG-A |
c.1028del |
p.Thr343Metfs*7 |
Frameshift |
12/35 |
- |
4 |
11-47367822-TGACGCCGT-T |
c.1021_1028del |
p.Gly341* |
Frameshift |
12/35 |
- |
1 |
11-47367823-A-T |
c.1025T>A |
p.Val342Asp |
Missense |
12/35 |
- |
3 |
11-47367828-G-A |
c.1020C>T |
p.Tyr340Tyr |
Synonymous |
12/35 |
- |
1 |
11-47367828-G-C |
c.1020C>G |
p.Tyr340* |
Nonsense |
12/35 |
- |
3 |
11-47367839-C-G |
c.1009G>C |
p.Ala337Pro |
Missense |
12/35 |
- |
1 |
11-47367842-T-C |
c.1006A>G |
p.Ile336Val |
Missense |
12/35 |
- |
2 |
11-47367845-G-A |
c.1003C>T |
p.Arg335Cys |
Missense |
12/35 |
- |
1 |
11-47367848-C-A |
c.1000G>T |
p.Glu334* |
Nonsense |
12/35 |
- |
2 |
11-47367848-C-T |
c.1000G>A |
p.Glu334Lys |
Missense |
12/35 |
- |
17 |
11-47367849-G-A |
c.999C>T |
p.Tyr333Tyr |
Synonymous |
12/35 |
- |
1 |
11-47367849-G-T |
c.999C>A |
p.Tyr333* |
Nonsense |
12/35 |
- |
1 |
11-47367854-C-A |
c.994G>T |
p.Glu332* |
Nonsense |
12/35 |
- |
1 |
11-47367854-C-T |
c.994G>A |
p.Glu332Lys |
Missense |
12/35 |
- |
3 |
11-47367863-GG-G |
c.989del |
p.Pro330Hisfs*20 |
Frameshift |
12/35 |
- |
1 |
11-47367871-C-T |
c.977G>A |
p.Arg326Gln |
Missense |
12/35 |
- |
22 |
11-47367872-G-A |
c.976C>T |
p.Arg326Trp |
Missense |
12/35 |
- |
1 |
11-47367872-G-T |
c.976C>A |
p.Arg326Arg |
Synonymous |
12/35 |
- |
1 |
11-47367887-C-G |
c.961G>C |
p.Val321Leu |
Missense |
12/35 |
- |
1 |
11-47367887-C-T |
c.961G>A |
p.Val321Met |
Missense |
12/35 |
- |
10 |
11-47367888-G-A |
c.960C>T |
p.Asp320Asp |
Synonymous |
12/35 |
- |
1 |
11-47367888-G-C |
c.960C>G |
p.Asp320Glu |
Missense |
12/35 |
- |
1 |
11-47367892-T-A |
c.956A>T |
p.Glu319Val |
Missense |
12/35 |
- |
1 |
11-47367892-T-G |
c.956A>C |
p.Glu319Ala |
Missense |
12/35 |
- |
1 |
11-47367916-G-T |
c.932C>A |
p.Ser311* |
Nonsense |
12/35 |
- |
1 |
11-47367923-T-C |
c.927-2A>G |
- |
IntronicSNV |
- |
11/34 |
10 |
11-47367930-C-T |
c.927-9G>A |
- |
IntronicSNV |
- |
11/34 |
8 |
11-47367931-G-T |
c.927-10C>A |
- |
IntronicSNV |
- |
11/34 |
1 |
11-47367950-G-A |
c.927-29C>T |
- |
IntronicSNV |
- |
11/34 |
1 |
11-47367967-C-G |
c.927-46G>C |
- |
IntronicSNV |
- |
11/34 |
1 |
11-47368129-C-T |
c.926+49G>A |
- |
IntronicSNV |
- |
11/34 |
1 |
11-47368174-T-C |
c.926+4A>G |
- |
IntronicSNV |
- |
11/34 |
1 |
11-47368183-GG-TG |
c.921delinsA |
p.Thr307Thr |
Missense |
11/35 |
- |
1 |
11-47368186-TCCGGAAAC-T |
c.911_918del |
p.Ser304Asnfs*26 |
Frameshift |
11/35 |
- |
1 |
11-47368187-C-T |
c.917G>A |
p.Arg306Gln |
Missense |
11/35 |
- |
1 |
11-47368191-AAA-A |
c.913_914del |
p.Phe305Profs*27 |
Frameshift |
11/35 |
- |
9 |
11-47368214-T-G |
c.909-19A>C |
- |
IntronicSNV |
- |
10/34 |
1 |
11-47368215-G-A |
c.909-20C>T |
- |
IntronicSNV |
- |
10/34 |
1 |
11-47368540-G-A |
c.908+38C>T |
- |
IntronicSNV |
- |
10/34 |
1 |
11-47368540-G-C |
c.908+38C>G |
- |
IntronicSNV |
- |
10/34 |
1 |
11-47368547-C-T |
c.908+31G>A |
- |
IntronicSNV |
- |
10/34 |
1 |
11-47368587-C-A |
c.906-7G>T |
- |
IntronicSNV |
- |
9/34 |
2 |
11-47368588-A-G |
c.906-8T>C |
- |
IntronicSNV |
- |
9/34 |
1 |
11-47368605-A-C |
c.906-25T>G |
- |
IntronicSNV |
- |
9/34 |
1 |
11-47368938-C-T |
c.905+39G>A |
- |
IntronicSNV |
- |
9/34 |
1 |
11-47368947-C-A |
c.905+30G>T |
- |
IntronicSNV |
- |
9/34 |
1 |
11-47368977-CT-CA |
c.904delinsT |
p.Arg302* |
Missense |
9/35 |
- |
1 |
11-47368988-C-G |
c.894G>C |
p.Leu298Leu |
Synonymous |
9/35 |
- |
1 |
11-47368988-C-T |
c.894G>A |
p.Leu298Leu |
Synonymous |
9/35 |
- |
1 |
11-47368995-GC-G |
c.887del |
p.Ser296Thrfs*4 |
Frameshift |
9/35 |
- |
1 |
11-47369011-CC-C |
c.873del |
p.Ile292Phefs*8 |
Frameshift |
9/35 |
- |
1 |
11-47369019-T-A |
c.863A>T |
p.Glu288Val |
Missense |
9/35 |
- |
1 |
11-47369023-G-A |
c.859C>T |
p.His287Tyr |
Missense |
9/35 |
- |
3 |
11-47369025-C-T |
c.857G>A |
p.Ser286Asn |
Missense |
9/35 |
- |
1 |
11-47369040-G-A |
c.852-10C>T |
- |
IntronicSNV |
- |
8/34 |
1 |
11-47369040-G-C |
c.852-10C>G |
- |
IntronicSNV |
- |
8/34 |
1 |
11-47369050-G-C |
c.852-20C>G |
- |
IntronicSNV |
- |
8/34 |
1 |
11-47369050-G-T |
c.852-20C>A |
- |
IntronicSNV |
- |
8/34 |
2 |
11-47369159-G-C |
c.851+43C>G |
- |
IntronicSNV |
- |
8/34 |
1 |
11-47369209-G-A |
c.844C>T |
p.Arg282Trp |
Missense |
8/35 |
- |
3 |
11-47369211-C-T |
c.842G>A |
p.Arg281Gln |
Missense |
8/35 |
- |
3 |
11-47369212-G-A |
c.841C>T |
p.Arg281Trp |
Missense |
8/35 |
- |
1 |
11-47369217-C-G |
c.836G>C |
p.Gly279Ala |
Missense |
8/35 |
- |
3 |
11-47369217-C-T |
c.836G>A |
p.Gly279Asp |
Missense |
8/35 |
- |
1 |
11-47369220-C-T |
c.833G>A |
p.Gly278Glu |
Missense |
8/35 |
- |
13 |
11-47369221-C-A |
c.832G>T |
p.Gly278* |
Nonsense |
8/35 |
- |
1 |
11-47369224-C-T |
c.829G>A |
p.Ala277Thr |
Missense |
8/35 |
- |
1 |
11-47369344-G-A |
c.821+64C>T |
- |
IntronicSNV |
- |
7/34 |
1 |
11-47369377-C-G |
c.821+31G>C |
- |
IntronicSNV |
- |
7/34 |
1 |
11-47369379-T-G |
c.821+29A>C |
- |
IntronicSNV |
- |
7/34 |
1 |
11-47369403-C-T |
c.821+5G>A |
- |
IntronicSNV |
- |
7/34 |
2 |
11-47369407-C-G |
c.821+1G>C |
- |
IntronicSNV |
- |
7/34 |
2 |
11-47369407-C-T |
c.821+1G>A |
- |
IntronicSNV |
- |
7/34 |
7 |
11-47369411-C-T |
c.818G>A |
p.Arg273His |
Missense |
7/35 |
- |
3 |
11-47369412-G-A |
c.817C>T |
p.Arg273Cys |
Missense |
7/35 |
- |
2 |
11-47369414-C-T |
c.815G>A |
p.Arg272His |
Missense |
7/35 |
- |
1 |
11-47369415-G-A |
c.814C>T |
p.Arg272Cys |
Missense |
7/35 |
- |
11 |
11-47369420-GG-G |
c.810del |
p.Phe271Serfs*29 |
Frameshift |
7/35 |
- |
1 |
11-47369438-T-C |
c.791A>G |
p.Asp264Gly |
Missense |
7/35 |
- |
1 |
11-47369442-C-A |
c.787G>T |
p.Gly263* |
Nonsense |
7/35 |
- |
1 |
11-47369442-C-G |
c.787G>C |
p.Gly263Arg |
Missense |
7/35 |
- |
1 |
11-47369442-C-T |
c.787G>A |
p.Gly263Arg |
Missense |
7/35 |
- |
2 |
11-47369443-G-A |
c.786C>T |
p.Thr262Thr |
Synonymous |
7/35 |
- |
4 |
11-47369444-G-C |
c.785C>G |
p.Thr262Ser |
Missense |
7/35 |
- |
1 |
11-47369453-G-A |
c.776C>T |
p.Ala259Val |
Missense |
7/35 |
- |
2 |
11-47369453-GGCCT-G |
c.773_776del |
p.Glu258Alafs*41 |
SpliceAcceptorDeletion |
7/35 |
- |
1 |
11-47369470-G-A |
c.773-14C>T |
- |
IntronicSNV |
- |
6/34 |
1 |
11-47369491-C-T |
c.773-35G>A |
- |
IntronicSNV |
- |
6/34 |
1 |
11-47369947-C-A |
c.772+28G>T |
- |
IntronicSNV |
- |
6/34 |
1 |
11-47369950-A-G |
c.772+25T>C |
- |
IntronicSNV |
- |
6/34 |
1 |
11-47369966-C-A |
c.772+9G>T |
- |
IntronicSNV |
- |
6/34 |
1 |
11-47369966-C-T |
c.772+9G>A |
- |
IntronicSNV |
- |
6/34 |
1 |
11-47369970-C-T |
c.772+5G>A |
- |
IntronicSNV |
- |
6/34 |
1 |
11-47369975-C-G |
c.772G>C |
p.Glu258Gln |
Missense |
6/35 |
- |
1 |
11-47369975-C-T |
c.772G>A |
p.Glu258Lys |
Missense |
6/35 |
- |
47 |
11-47369976-G-T |
c.771C>A |
p.His257Gln |
Missense |
6/35 |
- |
1 |
11-47369977-T-C |
c.770A>G |
p.His257Arg |
Missense |
6/35 |
- |
1 |
11-47369977-T-G |
c.770A>C |
p.His257Pro |
Missense |
6/35 |
- |
2 |
11-47369981-C-T |
c.766G>A |
p.Val256Ile |
Missense |
6/35 |
- |
1 |
11-47369995-T-A |
c.752A>T |
p.Asn251Ile |
Missense |
6/35 |
- |
1 |
11-47370003-G-T |
c.744C>A |
p.Asp248Glu |
Missense |
6/35 |
- |
1 |
11-47370005-C-T |
c.742G>A |
p.Asp248Asn |
Missense |
6/35 |
- |
1 |
11-47370008-A-G |
c.739T>C |
p.Phe247Leu |
Missense |
6/35 |
- |
1 |
11-47370033-GCG-TGA |
c.712_714delinsTCA |
p.Arg238Ser |
Nonsense |
6/35 |
- |
1 |
11-47370034-C-T |
c.713G>A |
p.Arg238His |
Missense |
6/35 |
- |
4 |
11-47370036-G-T |
c.711C>A |
p.Tyr237* |
Nonsense |
6/35 |
- |
1 |
11-47370037-T-C |
c.710A>G |
p.Tyr237Cys |
Missense |
6/35 |
- |
2 |
11-47370037-T-G |
c.710A>C |
p.Tyr237Ser |
Missense |
6/35 |
- |
2 |
11-47370038-A-G |
c.709T>C |
p.Tyr237His |
Missense |
6/35 |
- |
2 |
11-47370041-T-C |
c.706A>G |
p.Ser236Gly |
Missense |
6/35 |
- |
25 |
11-47370052-G-A |
c.695C>T |
p.Ala232Val |
Missense |
6/35 |
- |
2 |
11-47370059-G-A |
c.688C>T |
p.Gln230* |
Nonsense |
6/35 |
- |
1 |
11-47370065-C-T |
c.682G>A |
p.Asp228Asn |
Missense |
6/35 |
- |
1 |
11-47370080-C-T |
c.667G>A |
p.Glu223Lys |
Missense |
6/35 |
- |
2 |
11-47370092-C-A |
c.655G>T |
p.Val219Phe |
Missense |
6/35 |
- |
6 |
11-47370092-C-G |
c.655G>C |
p.Val219Leu |
Missense |
6/35 |
- |
14 |
11-47370107-G-A |
c.655-15C>T |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47370116-G-A |
c.655-24C>T |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47370607-T-C |
c.655-515A>G |
- |
IntronicSNV |
- |
5/34 |
6 |
11-47370607-T-G |
c.655-515A>C |
- |
IntronicSNV |
- |
5/34 |
6 |
11-47370957-A-C |
c.654+368T>G |
- |
IntronicSNV |
- |
5/34 |
4 |
11-47370957-A-T |
c.654+368T>A |
- |
IntronicSNV |
- |
5/34 |
4 |
11-47371130-G-A |
c.654+195C>T |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47371261-C-T |
c.654+64G>A |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47371307-C-T |
c.654+18G>A |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47371308-G-A |
c.654+17C>T |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47371320-C-G |
c.654+5G>C |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47371320-C-T |
c.654+5G>A |
- |
IntronicSNV |
- |
5/34 |
1 |
11-47371326-T-C |
c.653A>G |
p.Lys218Arg |
Missense |
5/35 |
- |
1 |
11-47371327-T-C |
c.652A>G |
p.Lys218Glu |
Missense |
5/35 |
- |
1 |
11-47371330-T-C |
c.649A>G |
p.Ser217Gly |
Missense |
5/35 |
- |
10 |
11-47371331-GGC-AAG |
c.646_648delinsCTT |
p.Ala216Leu |
Missense |
5/35 |
- |
1 |
11-47371332-GC-CG |
c.646_647delinsCG |
p.Ala216Arg |
Missense |
5/35 |
- |
1 |
11-47371333-C-A |
c.646G>T |
p.Ala216Ser |
Missense |
5/35 |
- |
1 |
11-47371333-C-T |
c.646G>A |
p.Ala216Thr |
Missense |
5/35 |
- |
7 |
11-47371334-GCG-GAG |
c.644delinsT |
p.Arg215Leu |
Missense |
5/35 |
- |
1 |
11-47371339-C-T |
c.640G>A |
p.Asp214Asn |
Missense |
5/35 |
- |
2 |
11-47371340-G-A |
c.639C>T |
p.Tyr213Tyr |
Synonymous |
5/35 |
- |
1 |
11-47371340-G-T |
c.639C>A |
p.Tyr213* |
Nonsense |
5/35 |
- |
1 |
11-47371343-G-C |
c.636C>G |
p.Ser212Arg |
Missense |
5/35 |
- |
2 |
11-47371348-C-T |
c.631G>A |
p.Asp211Asn |
Missense |
5/35 |
- |
1 |
11-47371355-C-A |
c.624G>T |
p.Gln208His |
Missense |
5/35 |
- |
2 |
11-47371355-C-G |
c.624G>C |
p.Gln208His |
Missense |
5/35 |
- |
2 |
11-47371363-G-C |
c.616C>G |
p.His206Asp |
Missense |
5/35 |
- |
1 |
11-47371366-G-A |
c.613C>T |
p.Gln205* |
Nonsense |
5/35 |
- |
1 |
11-47371375-T-G |
c.604A>C |
p.Lys202Gln |
Missense |
5/35 |
- |
4 |
11-47371381-T-C |
c.598A>G |
p.Ser200Gly |
Missense |
5/35 |
- |
1 |
11-47371386-T-C |
c.593A>G |
p.Asp198Gly |
Missense |
5/35 |
- |
1 |
11-47371391-C-G |
c.588G>C |
p.Trp196Cys |
Missense |
5/35 |
- |
1 |
11-47371391-C-T |
c.588G>A |
p.Trp196* |
Nonsense |
5/35 |
- |
2 |
11-47371392-C-T |
c.587G>A |
p.Trp196* |
Nonsense |
5/35 |
- |
2 |
11-47371395-TT-GC |
c.583_584delinsGC |
p.Lys195Ala |
Missense |
5/35 |
- |
1 |
11-47371397-G-T |
c.582C>A |
p.Gly194Gly |
Synonymous |
5/35 |
- |
1 |
11-47371401-TT-GC |
c.577_578delinsGC |
p.Lys193Ala |
Missense |
5/35 |
- |
1 |
11-47371406-C-A |
c.573G>T |
p.Trp191Cys |
Missense |
5/35 |
- |
1 |
11-47371406-C-G |
c.573G>C |
p.Trp191Cys |
Missense |
5/35 |
- |
1 |
11-47371407-C-A |
c.572G>T |
p.Trp191Leu |
Missense |
5/35 |
- |
1 |
11-47371410-TT-GC |
c.568_569delinsGC |
p.Lys190Ala |
Missense |
5/35 |
- |
1 |
11-47371414-C-T |
c.565G>A |
p.Val189Ile |
Missense |
5/35 |
- |
10 |
11-47371421-C-A |
c.558G>T |
p.Pro186Pro |
Synonymous |
5/35 |
- |
2 |
11-47371422-G-A |
c.557C>T |
p.Pro186Leu |
Missense |
5/35 |
- |
6 |
11-47371425-T-C |
c.554A>G |
p.Lys185Arg |
Missense |
5/35 |
- |
1 |
11-47371426-T-A |
c.553A>T |
p.Lys185* |
Nonsense |
5/35 |
- |
1 |
11-47371426-T-G |
c.553A>C |
p.Lys185Gln |
Missense |
5/35 |
- |
1 |
11-47371427-C-T |
c.552G>A |
p.Leu184Leu |
Synonymous |
5/35 |
- |
1 |
11-47371430-G-A |
c.549C>T |
p.Leu183Leu |
Synonymous |
5/35 |
- |
1 |
11-47371438-GCGCCGGCC-G |
c.534_541del |
p.Ala179Glnfs*59 |
Frameshift |
5/35 |
- |
1 |
11-47371442-G-A |
c.537C>T |
p.Ala179Ala |
Synonymous |
5/35 |
- |
1 |
11-47371445-C-A |
c.534G>T |
p.Val178Val |
Synonymous |
5/35 |
- |
1 |
11-47371447-C-T |
c.532G>A |
p.Val178Met |
Missense |
5/35 |
- |
6 |
11-47371448-G-A |
c.531C>T |
p.Arg177Arg |
Synonymous |
5/35 |
- |
1 |
11-47371449-C-T |
c.530G>A |
p.Arg177His |
Missense |
5/35 |
- |
6 |
11-47371450-G-A |
c.529C>T |
p.Arg177Cys |
Missense |
5/35 |
- |
4 |
11-47371452-G-A |
c.527C>T |
p.Ala176Val |
Missense |
5/35 |
- |
1 |
11-47371461-G-A |
c.518C>T |
p.Thr173Ile |
Missense |
5/35 |
- |
1 |
11-47371461-G-T |
c.518C>A |
p.Thr173Asn |
Missense |
5/35 |
- |
1 |
11-47371473-C-T |
c.506G>A |
p.Gly169Asp |
Missense |
5/35 |
- |
2 |
11-47371475-T-G |
c.506-2A>C |
- |
IntronicSNV |
- |
4/34 |
4 |
11-47371488-G-A |
c.506-15C>T |
- |
IntronicSNV |
- |
4/34 |
1 |
11-47371488-GG-G |
c.506-12del |
- |
IntronicDeletion |
- |
4/34 |
1 |
11-47371490-G-A |
c.506-17C>T |
- |
IntronicSNV |
- |
4/34 |
1 |
11-47371490-G-C |
c.506-17C>G |
- |
IntronicSNV |
- |
4/34 |
1 |
11-47371497-C-T |
c.506-24G>A |
- |
IntronicSNV |
- |
4/34 |
1 |
11-47371525-C-A |
c.505+40G>T |
- |
IntronicSNV |
- |
4/34 |
1 |
11-47371525-C-T |
c.505+40G>A |
- |
IntronicSNV |
- |
4/34 |
1 |
11-47371559-A-C |
c.505+6T>G |
- |
IntronicSNV |
- |
4/34 |
1 |
11-47371560-C-G |
c.505+5G>C |
- |
IntronicSNV |
- |
4/34 |
2 |
11-47371569-G-A |
c.501C>T |
p.Thr167Thr |
Synonymous |
4/35 |
- |
1 |
11-47371571-T-C |
c.499A>G |
p.Thr167Ala |
Missense |
4/35 |
- |
1 |
11-47371575-C-G |
c.495G>C |
p.Glu165Asp |
Missense |
4/35 |
- |
5 |
11-47371578-G-A |
c.492C>T |
p.Gly164Gly |
Synonymous |
4/35 |
- |
1 |
11-47371586-G-A |
c.484C>T |
p.Gln162* |
Nonsense |
4/35 |
- |
1 |
11-47371587-T-C |
c.483A>G |
p.Pro161Pro |
Synonymous |
4/35 |
- |
1 |
11-47371589-G-A |
c.481C>T |
p.Pro161Ser |
Missense |
4/35 |
- |
1 |
11-47371589-G-T |
c.481C>A |
p.Pro161Thr |
Missense |
4/35 |
- |
1 |
11-47371591-CC-C |
c.480del |
p.Pro161Hisfs*6 |
Frameshift |
4/35 |
- |
1 |
11-47371591-C-T |
c.479G>A |
p.Arg160Gln |
Missense |
4/35 |
- |
2 |
11-47371592-G-A |
c.478C>T |
p.Arg160Trp |
Missense |
4/35 |
- |
9 |
11-47371598-C-T |
c.472G>A |
p.Val158Met |
Missense |
4/35 |
- |
17 |
11-47371599-G-A |
c.471C>T |
p.Phe157Phe |
Synonymous |
4/35 |
- |
1 |
11-47371604-G-C |
c.466C>G |
p.Leu156Val |
Missense |
4/35 |
- |
1 |
11-47371609-AATGG-A |
c.458_461del |
p.Pro153Leufs*5 |
Frameshift |
4/35 |
- |
1 |
11-47371609-A-G |
c.461T>C |
p.Ile154Thr |
Missense |
4/35 |
- |
4 |
11-47371614-GG-G |
c.459del |
p.Ile154Leufs*5 |
Frameshift |
4/35 |
- |
3 |
11-47371619-C-T |
c.451G>A |
p.Asp151Asn |
Missense |
4/35 |
- |
2 |
11-47371624-G-T |
c.446C>A |
p.Ala149Asp |
Missense |
4/35 |
- |
2 |
11-47371628-C-T |
c.442G>A |
p.Gly148Arg |
Missense |
4/35 |
- |
16 |
11-47371630-G-A |
c.440C>T |
p.Pro147Leu |
Missense |
4/35 |
- |
4 |
11-47371632-G-A |
c.438C>T |
p.Thr146Thr |
Synonymous |
4/35 |
- |
1 |
11-47371632-G-C |
c.438C>G |
p.Thr146Thr |
Synonymous |
4/35 |
- |
1 |
11-47371632-GG-TG |
c.438delinsA |
p.Thr146Thr |
Missense |
4/35 |
- |
1 |
11-47371632-G-T |
c.438C>A |
p.Thr146Thr |
Synonymous |
4/35 |
- |
1 |
11-47371642-T-C |
c.428A>G |
p.Asn143Ser |
Missense |
4/35 |
- |
1 |
11-47371654-G-C |
c.416C>G |
p.Ser139* |
Nonsense |
4/35 |
- |
2 |
11-47371660-G-C |
c.410C>G |
p.Ser137* |
Nonsense |
4/35 |
- |
1 |
11-47371660-G-T |
c.410C>A |
p.Ser137* |
Nonsense |
4/35 |
- |
1 |
11-47371664-C-T |
c.407-1G>A |
- |
IntronicSNV |
- |
3/34 |
1 |
11-47371668-G-A |
c.407-5C>T |
- |
IntronicSNV |
- |
3/34 |
1 |
11-47371670-G-T |
c.407-7C>A |
- |
IntronicSNV |
- |
3/34 |
1 |
11-47372020-G-A |
c.406+33C>T |
- |
IntronicSNV |
- |
3/34 |
1 |
11-47372048-C-G |
c.406+5G>C |
- |
IntronicSNV |
- |
3/34 |
1 |
11-47372097-G-A |
c.362C>T |
p.Pro121Leu |
Missense |
3/35 |
- |
1 |
11-47372126-A-AA |
c.333dup |
p.Glu112* |
Nonsense |
3/35 |
- |
1 |
11-47372130-GG-AT |
c.328_329delinsAT |
p.Pro110Ile |
Missense |
3/35 |
- |
1 |
11-47372133-G-A |
c.326C>T |
p.Ala109Val |
Missense |
3/35 |
- |
1 |
11-47372136-G-A |
c.323C>T |
p.Pro108Leu |
Missense |
3/35 |
- |
1 |
11-47372139-GG-G |
c.323del |
p.Pro108Leufs*51 |
Frameshift |
3/35 |
- |
1 |
11-47372144-G-C |
c.315C>G |
p.Ala105Ala |
Synonymous |
3/35 |
- |
1 |
11-47372147-C-CC |
c.313dup |
p.Ala105Glyfs*8 |
Frameshift |
3/35 |
- |
1 |
11-47372150-C-A |
c.309G>T |
p.Met103Ile |
Missense |
3/35 |
- |
1 |
11-47372150-C-G |
c.309G>C |
p.Met103Ile |
Missense |
3/35 |
- |
1 |
11-47372150-C-T |
c.309G>A |
p.Met103Ile |
Missense |
3/35 |
- |
1 |
11-47372154-G-A |
c.305C>T |
p.Pro102Leu |
Missense |
3/35 |
- |
1 |
11-47372158-C-T |
c.301G>A |
p.Glu101Lys |
Missense |
3/35 |
- |
2 |
11-47372377-G-A |
c.293-211C>T |
- |
IntronicSNV |
- |
2/34 |
5 |
11-47372377-G-C |
c.293-211C>G |
- |
IntronicSNV |
- |
2/34 |
5 |
11-47372801-A-G |
c.281T>C |
p.Val94Ala |
Missense |
2/35 |
- |
1 |
11-47372810-TC-TG |
c.271delinsC |
p.Asp91His |
Missense |
2/35 |
- |
1 |
11-47372819-A-T |
c.263T>A |
p.Val88Asp |
Missense |
2/35 |
- |
1 |
11-47372823-T-C |
c.259A>G |
p.Lys87Glu |
Missense |
2/35 |
- |
1 |
11-47372825-G-A |
c.257C>T |
p.Ser86Phe |
Missense |
2/35 |
- |
1 |
11-47372831-C-T |
c.251G>A |
p.Gly84Asp |
Missense |
2/35 |
- |
1 |
11-47372842-TGC-ACCACC |
c.239_240delinsGTGGT |
p.Ala80delinsGlyGly |
MultiAAMissense |
2/35 |
- |
1 |
11-47372845-G-A |
c.237C>T |
p.Tyr79Tyr |
Synonymous |
2/35 |
- |
1 |
11-47372845-G-T |
c.237C>A |
p.Tyr79* |
Nonsense |
2/35 |
- |
3 |
11-47372848-A-C |
c.234T>G |
p.Ser78Ser |
Synonymous |
2/35 |
- |
1 |
11-47372853-CCCTGGTC-C |
c.225_231del |
p.Gln76Leufs*18 |
Frameshift |
2/35 |
- |
1 |
11-47372855-TG-AC |
c.226_227delinsGT |
p.Gln76Val |
Missense |
2/35 |
- |
1 |
11-47372856-G-A |
c.226C>T |
p.Gln76* |
Nonsense |
2/35 |
- |
2 |
11-47372859-C-A |
c.223G>T |
p.Asp75Tyr |
Missense |
2/35 |
- |
1 |
11-47372859-C-T |
c.223G>A |
p.Asp75Asn |
Missense |
2/35 |
- |
6 |
11-47372862-C-T |
c.220G>A |
p.Ala74Thr |
Missense |
2/35 |
- |
3 |
11-47372866-G-A |
c.216C>T |
p.Gly72Gly |
Synonymous |
2/35 |
- |
1 |
11-47372866-G-T |
c.216C>A |
p.Gly72Gly |
Synonymous |
2/35 |
- |
1 |
11-47372874-C-A |
c.208G>T |
p.Glu70* |
Nonsense |
2/35 |
- |
1 |
11-47372876-C-T |
c.206G>A |
p.Arg69Gln |
Missense |
2/35 |
- |
1 |
11-47372875-C-A |
c.207G>T |
p.Arg69Arg |
Synonymous |
2/35 |
- |
1 |
11-47372875-C-T |
c.207G>A |
p.Arg69Arg |
Synonymous |
2/35 |
- |
1 |
11-47372877-G-A |
c.205C>T |
p.Arg69Trp |
Missense |
2/35 |
- |
1 |
11-47372877-G-T |
c.205C>A |
p.Arg69Arg |
Synonymous |
2/35 |
- |
1 |
11-47372892-TGCCGTGTGCCC-T |
c.180_190del |
p.Gly61Tyrfs*48 |
Frameshift |
2/35 |
- |
1 |
11-47372895-G-A |
c.187C>T |
p.Arg63Trp |
Missense |
2/35 |
- |
2 |
11-47372898-GTGCCCTCTGTG-G |
c.177_187del |
p.Glu60Alafs*49 |
Frameshift |
2/35 |
- |
4 |
11-47372898-T-G |
c.184A>C |
p.Thr62Pro |
Missense |
2/35 |
- |
2 |
11-47372904-C-CA |
c.177_178insT |
p.Glu60* |
Nonsense |
2/35 |
- |
2 |
11-47372907-T-C |
c.175A>G |
p.Thr59Ala |
Missense |
2/35 |
- |
4 |
11-47372920-AC-A |
c.162del |
p.Lys54Asnfs*13 |
Frameshift |
2/35 |
- |
1 |
11-47372922-T-C |
c.160A>G |
p.Lys54Glu |
Missense |
2/35 |
- |
1 |
11-47372922-TGT-CTGTGACCA |
c.158_160delinsTGGTCACAG |
p.Asn53_Lys54delinsMetValThrGlu |
MultiAAMissense |
2/35 |
- |
1 |
11-47372935-G-A |
c.147C>T |
p.Ile49Ile |
Synonymous |
2/35 |
- |
1 |
11-47372936-A-C |
c.146T>G |
p.Ile49Ser |
Missense |
2/35 |
- |
2 |
11-47372937-T-A |
c.145A>T |
p.Ile49Phe |
Missense |
2/35 |
- |
1 |
11-47372941-CA-C |
c.141del |
p.Ser47Argfs*20 |
Frameshift |
2/35 |
- |
1 |
11-47372944-G-C |
c.138C>G |
p.Gly46Gly |
Synonymous |
2/35 |
- |
1 |
11-47372949-C-T |
c.133G>A |
p.Gly45Arg |
Missense |
2/35 |
- |
1 |
11-47372950-G-A |
c.132C>T |
p.Arg44Arg |
Synonymous |
2/35 |
- |
1 |
11-47372960-C-T |
c.122G>A |
p.Arg41His |
Missense |
2/35 |
- |
1 |
11-47372961-G-A |
c.121C>T |
p.Arg41Cys |
Missense |
2/35 |
- |
2 |
11-47372961-G-T |
c.121C>A |
p.Arg41Ser |
Missense |
2/35 |
- |
1 |
11-47372973-C-A |
c.109G>T |
p.Gly37* |
Nonsense |
2/35 |
- |
1 |
11-47372975-G-T |
c.107C>A |
p.Ala36Glu |
Missense |
2/35 |
- |
1 |
11-47372978-C-T |
c.104G>A |
p.Arg35Gln |
Missense |
2/35 |
- |
2 |
11-47372979-G-A |
c.103C>T |
p.Arg35Trp |
Missense |
2/35 |
- |
6 |
11-47372988-C-T |
c.94G>A |
p.Glu32Lys |
Missense |
2/35 |
- |
2 |
11-47372989-G-A |
c.93C>T |
p.Ala31Ala |
Synonymous |
2/35 |
- |
1 |
11-47372991-C-G |
c.91G>C |
p.Ala31Pro |
Missense |
2/35 |
- |
22 |
11-47372997-AA-A |
c.86del |
p.Phe29Serfs*10 |
Frameshift |
2/35 |
- |
1 |
11-47373000-C-T |
c.82G>A |
p.Val28Met |
Missense |
2/35 |
- |
2 |
11-47373001-G-C |
c.81C>G |
p.Ala27Ala |
Synonymous |
2/35 |
- |
1 |
11-47373009-T-A |
c.73A>T |
p.Ser25Cys |
Missense |
2/35 |
- |
1 |
11-47373015-C-G |
c.67G>C |
p.Ala23Pro |
Missense |
2/35 |
- |
1 |
11-47373015-C-T |
c.67G>A |
p.Ala23Thr |
Missense |
2/35 |
- |
1 |
11-47373016-G-A |
c.66C>T |
p.Ala22Ala |
Synonymous |
2/35 |
- |
1 |
11-47373032-C-A |
c.50G>T |
p.Arg17Leu |
Missense |
2/35 |
- |
1 |
11-47373032-C-T |
c.50G>A |
p.Arg17Gln |
Missense |
2/35 |
- |
2 |
11-47373035-G-T |
c.47C>A |
p.Pro16Gln |
Missense |
2/35 |
- |
1 |
11-47373039-T-TA |
c.42_43insT |
p.Lys15* |
Nonsense |
2/35 |
- |
1 |
11-47373041-T-C |
c.41A>G |
p.Lys14Arg |
Missense |
2/35 |
- |
1 |
11-47373055-G-A |
c.27C>T |
p.Val9Val |
Synonymous |
2/35 |
- |
1 |
11-47373058-T-C |
c.26-2A>G |
- |
IntronicSNV |
- |
1/34 |
2 |
11-47373066-C-T |
c.26-10G>A |
- |
IntronicSNV |
- |
1/34 |
1 |
11-47373083-G-A |
c.26-27C>T |
- |
IntronicSNV |
- |
1/34 |
1 |
11-47373425-T-C |
c.26-369A>G |
- |
IntronicSNV |
- |
1/34 |
2 |
11-47374186-C-G |
c.13G>C |
p.Gly5Arg |
Missense |
1/35 |
- |
3 |
11-47374196-C-G |
c.3G>C |
p.Met1? |
Missense |
1/35 |
- |
1 |
11-47374196-C-T |
c.3G>A |
p.Met1? |
Missense |
1/35 |
- |
1 |
11-47374198-T-C |
c.1A>G |
p.Met1? |
Missense |
1/35 |
- |
1 |