MYBPC3 myosin binding protein C, cardiac

Canonical transcript: NM_000256

1131 unique variant annotations were identified in 492 publications
Gene-Specific Resource Links:
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COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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