ATM ATM serine/threonine kinase

Canonical transcript: NM_000051

1484 unique variant annotations were identified in 1258 publications
Gene-Specific Resource Links:
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ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
11-108093616-A-T c.-328A>T - 5_prime_UTR_variant 1/63 - 2
11-108093616-A-G c.-328A>G - 5_prime_UTR_variant 1/63 - 2
11-108093795-G-A c.-149G>A - 5_prime_UTR_variant 1/63 - 1
11-108093796-G-A c.-148G>A - 5_prime_UTR_variant 1/63 - 1
11-108093833-G-A c.-111G>A - 5_prime_UTR_variant 1/63 - 50
11-108093881-G-C c.-63G>C - 5_prime_UTR_variant 1/63 - 1
11-108093881-G-T c.-63G>T - 5_prime_UTR_variant 1/63 - 1
11-108093886-A-C c.-58A>C - 5_prime_UTR_variant 1/63 - 1
11-108094211-C-G c.-31+298C>G - intron_variant - 1/62 1
11-108094217-T-C c.-31+304T>C - intron_variant - 1/62 1
11-108094218-T-C c.-31+305T>C - intron_variant - 1/62 1
11-108094224-C-T c.-31+311C>T - intron_variant - 1/62 1
11-108094774-C-T c.-31+861C>T - intron_variant - 1/62 1
11-108094787-A-G c.-31+874A>G - intron_variant - 1/62 1
11-108095220-A-G c.-31+1307A>G - intron_variant - 1/62 1
11-108095836-T-C c.-31+1923T>C - intron_variant - 1/62 1
11-108096053-A-T c.-31+2140A>T - intron_variant - 1/62 2
11-108096141-A-G c.-30-2181A>G - IntronicSNV - 1/62 7
11-108096285-C-G c.-30-2037C>G - IntronicSNV - 1/62 1
11-108096285-C-T c.-30-2037C>T - IntronicSNV - 1/62 1
11-108097333-A-G c.-30-989A>G - IntronicSNV - 1/62 3
11-108098108-T-A c.-244T>A - IntronicSNV 1/63 - 1
11-108098202-A-C c.-150A>C - IntronicSNV 1/63 - 1
11-108098205-T-C c.-147T>C - IntronicSNV 1/63 - 1
11-108098352-A-G c.1A>G p.Met1? Missense 2/63 - 1
11-108098353-T-C c.2T>C p.Met1? Missense 2/63 - 3
11-108098355-GAGT-G c.4_6del p.Ser2del InFrameDeletion 2/63 - 1
11-108098382-TG-GC c.31_32delinsGC p.Cys11Ala Missense 2/63 - 2
11-108098383-G-T c.32G>T p.Cys11Phe Missense 2/63 - 1
11-108098384-C-T c.33C>T p.Cys11Cys Synonymous 2/63 - 1
11-108098385-T-C c.34T>C p.Cys12Arg Missense 2/63 - 3
11-108098385-TG-GC c.34_35delinsGC p.Cys12Ala Missense 2/63 - 1
11-108098385-TG-CA c.34_35inv p.Cys12His Missense 2/63 - 1
11-108098385-TGC-ATG c.34_36delinsATG p.Cys12Met Missense 2/63 - 1
11-108098386-G-T c.35G>T p.Cys12Phe Missense 2/63 - 1
11-108098388-C-T c.37C>T p.Arg13Cys Missense 2/63 - 1
11-108098389-G-A c.38G>A p.Arg13His Missense 2/63 - 1
11-108098391-CAA-GAC c.40_42delinsGAC p.Gln14Asp Missense 2/63 - 1
11-108098392-CAAC-C c.41_43del p.Gln14del InFrameDeletion 2/63 - 2
11-108098392-A-G c.41A>G p.Gln14Arg Missense 2/63 - 1
11-108098394-AC-A c.43del p.Leu15* Frameshift 2/63 - 1
11-108098395-T-G c.44T>G p.Leu15Arg Missense 2/63 - 2
11-108098402-T-A c.51T>A p.His17Gln Missense 2/63 - 1
11-108098402-T-G c.51T>G p.His17Gln Missense 2/63 - 1
11-108098403-G-A c.52G>A p.Asp18Asn Missense 2/63 - 1
11-108098403-TGATAGAGCTACAGAACGAAAGGTAGTAAAT-T c.52_72+9del - SpliceDonorDeletion 2/63 2/62 1
11-108098406-AG-GC c.55_56delinsGC p.Arg19Ala Missense 2/63 - 1
11-108098409-G-A c.58G>A p.Ala20Thr Missense 2/63 - 1
11-108098410-CT-AG c.59_60inv p.Ala20Glu Missense 2/63 - 1
11-108098411-T-G c.60T>G p.Ala20Ala Synonymous 2/63 - 1
11-108098411-T-C c.60T>C p.Ala20Ala Synonymous 2/63 - 1
11-108098411-T-A c.60T>A p.Ala20Ala Synonymous 2/63 - 1
11-108098412-A-G c.61A>G p.Thr21Ala Missense 2/63 - 4
11-108098412-ACA-GAC c.61_63delinsGAC p.Thr21Asp Missense 2/63 - 1
11-108098412-AC-GT c.61_62inv p.Thr21Val Missense 2/63 - 1
11-108098413-CA-AC c.62_63delinsAC p.Thr21Asn Missense 2/63 - 1
11-108098415-GAA-TGT c.64_66delinsTGT p.Glu22Cys Missense 2/63 - 1
11-108098418-C-T c.67C>T p.Arg23* Nonsense 2/63 - 2
11-108098418-C-G c.67C>G p.Arg23Gly Missense 2/63 - 1
11-108098501-A-G c.73-2A>G - IntronicSNV - 2/62 1
11-108098503-AA-GC c.73_74delinsGC p.Lys25Ala Missense 3/63 - 1
11-108098508-A-G c.78A>G p.Glu26Glu Synonymous 3/63 - 1
11-108098515-A-T c.85A>T p.Lys29* Nonsense 3/63 - 1
11-108098516-A-G c.86A>G p.Lys29Arg Missense 3/63 - 2
11-108098521-AA-GC c.91_92delinsGC p.Lys31Ala Missense 3/63 - 1
11-108098522-A-G c.92A>G p.Lys31Arg Missense 3/63 - 2
11-108098523-G-A c.93G>A p.Lys31Lys Synonymous 3/63 - 1
11-108098524-C-G c.94C>G p.Arg32Gly Missense 3/63 - 1
11-108098524-C-T c.94C>T p.Arg32Cys Missense 3/63 - 3
11-108098524-CG-GC c.94_95delinsGC p.Arg32Ala Missense 3/63 - 1
11-108098525-GC-AA c.95_96delinsAA p.Arg32Gln Missense 3/63 - 1
11-108098529-G-C c.99G>C p.Leu33Leu Synonymous 3/63 - 1
11-108098533-C-T c.103C>T p.Arg35* Nonsense 3/63 - 8
11-108098534-G-A c.104G>A p.Arg35Gln Missense 3/63 - 1
11-108098541-T-G c.111T>G p.Pro37Pro Synonymous 3/63 - 1
11-108098541-T-A c.111T>A p.Pro37Pro Synonymous 3/63 - 1
11-108098541-T-C c.111T>C p.Pro37Pro Synonymous 3/63 - 1
11-108098542-G-A c.112G>A p.Glu38Lys Missense 3/63 - 2
11-108098545-A-G c.115A>G p.Thr39Ala Missense 3/63 - 1
11-108098548-A-G c.118A>G p.Ile40Val Missense 3/63 - 1
11-108098551-AA-GC c.121_122delinsGC p.Lys41Ala Missense 3/63 - 2
11-108098555-A-G c.125A>G p.His42Arg Missense 3/63 - 1
11-108098560-G-A c.130G>A p.Asp44Asn Missense 3/63 - 3
11-108098561-A-G c.131A>G p.Asp44Gly Missense 3/63 - 1
11-108098563-C-T c.133C>T p.Arg45Trp Missense 3/63 - 1
11-108098564-G-A c.134G>A p.Arg45Gln Missense 3/63 - 1
11-108098565-G-C c.135G>C p.Arg45Arg Synonymous 3/63 - 1
11-108098569-T-G c.139T>G p.Ser47Ala Missense 3/63 - 4
11-108098576-C-T c.146C>T p.Ser49Phe Missense 3/63 - 13
11-108098576-C-G c.146C>G p.Ser49Cys Missense 3/63 - 41
11-108098583-A-C c.153A>C p.Gln51His Missense 3/63 - 1
11-108098583-A-T c.153A>T p.Gln51His Missense 3/63 - 1
11-108098590-T-C c.160T>C p.Tyr54His Missense 3/63 - 1
11-108098592-T-C c.162T>C p.Tyr54Tyr Synonymous 3/63 - 3
11-108098600-G-A c.170G>A p.Trp57* Nonsense 3/63 - 9
11-108098602-G-A c.172G>A p.Asp58Asn Missense 3/63 - 1
11-108098614-AG-CC c.184_185delinsCC p.Arg62Pro Missense 3/63 - 1
11-108098614-AG-GC c.184_185delinsGC p.Arg62Ala Missense 3/63 - 1
11-108098615-G-A c.185G>A p.Arg62Lys Missense 3/63 - 1
11-108099898-C-T c.186-7C>T - IntronicSNV - 3/62 1
11-108099909-TT-GC c.190_191delinsGC p.Leu64Ala Missense 4/63 - 1
11-108099912-C-T c.193C>T p.Gln65* Nonsense 4/63 - 1
11-108099912-CA-GC c.193_194delinsGC p.Gln65Ala Missense 4/63 - 1
11-108099913-A-C c.194A>C p.Gln65Pro Missense 4/63 - 1
11-108099913-A-G c.194A>G p.Gln65Arg Missense 4/63 - 7
11-108099921-A-G c.202A>G p.Ile68Val Missense 4/63 - 1
11-108099937-A-G c.218A>G p.Glu73Gly Missense 4/63 - 1
11-108099939-TG-GC c.220_221delinsGC p.Cys74Ala Missense 4/63 - 1
11-108099939-T-G c.220T>G p.Cys74Gly Missense 4/63 - 1
11-108099945-AG-CA c.226_227delinsCA p.Arg76Gln Missense 4/63 - 1
11-108099951-G-A c.232G>A p.Ala78Thr Missense 4/63 - 2
11-108099954-AA-GC c.235_236delinsGC p.Lys79Ala Missense 4/63 - 2
11-108099955-A-G c.236A>G p.Lys79Arg Missense 4/63 - 2
11-108099956-AA-A c.237del p.Lys79Asnfs*37 Frameshift 4/63 - 1
11-108099960-A-G c.241A>G p.Asn81Asp Missense 4/63 - 1
11-108099961-A-AA c.242dup p.Asn81Lysfs*19 Frameshift 4/63 - 1
11-108099966-TC-AT c.247_248delinsAT p.Ser83Ile Missense 4/63 - 5
11-108099967-CA-AT c.248_249delinsAT p.Ser83Tyr Missense 4/63 - 1
11-108099967-C-T c.248C>T p.Ser83Leu Missense 4/63 - 10
11-108099969-G-T c.250G>T p.Ala84Ser Missense 4/63 - 1
11-108099970-CC-AG c.251_252delinsAG p.Ala84Glu Missense 4/63 - 1
11-108099972-T-G c.253T>G p.Ser85Ala Missense 4/63 - 4
11-108099972-TCA-GAC c.253_255delinsGAC p.Ser85Asp Missense 4/63 - 1
11-108099975-A-G c.256A>G p.Thr86Ala Missense 4/63 - 3
11-108099975-AC-GA c.256_257delinsGA p.Thr86Glu Missense 4/63 - 1
11-108099987-A-G c.268A>G p.Arg90Gly Missense 4/63 - 1
11-108099988-GG-AC c.269_270delinsAC p.Arg90Asn Missense 4/63 - 1
11-108099988-G-A c.269G>A p.Arg90Lys Missense 4/63 - 2
11-108099993-AA-GC c.274_275delinsGC p.Lys92Ala Missense 4/63 - 1
11-108099994-A-C c.275A>C p.Lys92Thr Missense 4/63 - 1
11-108100011-AG-GC c.292_293delinsGC p.Ser98Ala Missense 4/63 - 1
11-108100014-AG-GC c.295_296delinsGC p.Ser99Ala Missense 4/63 - 2
11-108100014-A-G c.295A>G p.Ser99Gly Missense 4/63 - 1
11-108100017-TTG-GAC c.298_300delinsGAC p.Leu100Asp Missense 4/63 - 1
11-108100032-A-G c.313A>G p.Ile105Val Missense 4/63 - 1
11-108100051-G-A c.331+1G>A - IntronicSNV - 4/62 1
11-108101919-C-T c.331+1869C>T - IntronicSNV - 4/62 1
11-108104525-A-G c.332-1872A>G - IntronicSNV - 4/62 1
11-108105593-G-A c.332-804G>A - IntronicSNV - 4/62 3
11-108105928-T-C c.332-469T>C - IntronicSNV - 4/62 1
11-108105928-T-G c.332-469T>G - IntronicSNV - 4/62 1
11-108106326-A-G c.332-71A>G - IntronicSNV - 4/62 1
11-108106397-G-A c.332G>A p.Arg111Lys Missense 5/63 - 1
11-108106398-A-AA c.333dup p.Ala112Serfs*3 SpliceAcceptorInsertion 5/63 - 1
11-108106401-A-AA c.336dup p.Pro113Thrfs*2 Frameshift 5/63 - 1
11-108106406-G-A c.341G>A p.Arg114Lys Missense 5/63 - 1
11-108106410-A-AT c.345_346insT p.Lys116* Nonsense 5/63 - 1
11-108106413-A-T c.348A>T p.Lys116Asn Missense 5/63 - 1
11-108106413-A-C c.348A>C p.Lys116Asn Missense 5/63 - 1
11-108106417-C-T c.352C>T p.Gln118* Nonsense 5/63 - 1
11-108106423-CTC-GAG c.358_360inv p.Leu120Glu Missense 5/63 - 1
11-108106430-A-G c.365A>G p.Asn122Ser Missense 5/63 - 3
11-108106435-A-G c.370A>G p.Ile124Val Missense 5/63 - 1
11-108106442-A-G c.377A>G p.Asp126Gly Missense 5/63 - 1
11-108106443-AT-A c.378del p.Asp126Glufs*3 Frameshift 5/63 - 1
11-108106443-T-A c.378T>A p.Asp126Glu Missense 5/63 - 14
11-108106446-A-C c.381A>C p.Thr127Thr Synonymous 5/63 - 1
11-108106446-A-G c.381A>G p.Thr127Thr Synonymous 5/63 - 1
11-108106446-A-T c.381A>T p.Thr127Thr Synonymous 5/63 - 1
11-108106446-CA-C c.381del p.Val128* Frameshift 5/63 - 4
11-108106450-AA-GC c.385_386delinsGC p.Lys129Ala Missense 5/63 - 1
11-108106451-AA-TG c.386_387delinsTG p.Lys129Met Missense 5/63 - 1
11-108106451-A-C c.386A>C p.Lys129Thr Missense 5/63 - 1
11-108106454-A-T c.389A>T p.Asp130Val Missense 5/63 - 2
11-108106454-A-C c.389A>C p.Asp130Ala Missense 5/63 - 13
11-108106456-T-G c.391T>G p.Ser131Ala Missense 5/63 - 2
11-108106457-CA-TT c.392_393delinsTT p.Ser131Phe Missense 5/63 - 1
11-108106459-T-G c.394T>G p.Ser132Ala Missense 5/63 - 1
11-108106463-A-G c.398A>G p.Asn133Ser Missense 5/63 - 1
11-108106466-G-A c.401G>A p.Gly134Asp Missense 5/63 - 1
11-108106469-C-T c.404C>T p.Ala135Val Missense 5/63 - 2
11-108106477-G-A c.412G>A p.Gly138Arg Missense 5/63 - 1
11-108106477-G-C c.412G>C p.Gly138Arg Missense 5/63 - 1
11-108106478-G-C c.413G>C p.Gly138Ala Missense 5/63 - 1
11-108106483-G-C c.418G>C p.Asp140His Missense 5/63 - 1
11-108106499-T-G c.434T>G p.Leu145Arg Missense 5/63 - 2
11-108106504-A-G c.439A>G p.Lys147Glu Missense 5/63 - 1
11-108106507-GAC-CAA c.442_444delinsCAA p.Asp148Gln Missense 5/63 - 1
11-108106508-A-C c.443A>C p.Asp148Ala Missense 5/63 - 3
11-108106509-C-G c.444C>G p.Asp148Glu Missense 5/63 - 5
11-108106509-C-A c.444C>A p.Asp148Glu Missense 5/63 - 5
11-108106510-CATT-C c.445_447del p.Ile149del InFrameDeletion 5/63 - 1
11-108106514-T-C c.449T>C p.Leu150Pro Missense 5/63 - 1
11-108106515-TTTCT-T c.450_453del p.Ser151* Frameshift 5/63 - 1
11-108106516-TC-GA c.451_452inv p.Ser151Asp Missense 5/63 - 1
11-108106516-T-G c.451T>G p.Ser151Ala Missense 5/63 - 2
11-108106522-A-G c.457A>G p.Arg153Gly Missense 5/63 - 1
11-108106530-C-A c.465C>A p.Tyr155* Nonsense 5/63 - 1
11-108106530-C-G c.465C>G p.Tyr155* Nonsense 5/63 - 1
11-108106533-G-A c.468G>A p.Trp156* Nonsense 5/63 - 2
11-108106534-TG-AC c.469_470delinsAC p.Cys157Thr Missense 5/63 - 3
11-108106543-ATCTCA-A c.478_482del p.Ser160Alafs*23 Frameshift 5/63 - 2
11-108106543-T-C c.478T>C p.Ser160Pro Missense 5/63 - 1
11-108106543-T-G c.478T>G p.Ser160Ala Missense 5/63 - 1
11-108106545-CTCAGC-C c.480_484del p.Gln161Thrfs*22 Frameshift 5/63 - 1
11-108106549-C-T c.484C>T p.Gln162* Nonsense 5/63 - 1
11-108106552-C-T c.487C>T p.Gln163* Nonsense 5/63 - 2
11-108106555-TG-GC c.490_491delinsGC p.Trp164Ala Missense 5/63 - 2
11-108106556-G-C c.491G>C p.Trp164Ser Missense 5/63 - 2
11-108106557-G-T c.492G>T p.Trp164Cys Missense 5/63 - 1
11-108106558-TTA-AAC c.493_495delinsAAC p.Leu165Asn Missense 5/63 - 1
11-108106565-T-C c.496+4T>C - IntronicSNV - 5/62 1
11-108106566-G-A c.496+5G>A - IntronicSNV - 5/62 2
11-108106782-C-T c.496+221C>T - IntronicSNV - 5/62 1
11-108106782-C-A c.496+221C>A - IntronicSNV - 5/62 1
11-108107009-G-A c.496+448G>A - IntronicSNV - 5/62 2
11-108107009-G-T c.496+448G>T - IntronicSNV - 5/62 2
11-108107497-T-G c.496+936T>G - IntronicSNV - 5/62 1
11-108107660-G-A c.496+1099G>A - IntronicSNV - 5/62 3
11-108107660-G-C c.496+1099G>C - IntronicSNV - 5/62 3
11-108112978-G-T c.497-1702G>T - IntronicSNV - 5/62 1
11-108113564-A-G c.497-1116A>G - IntronicSNV - 5/62 1
11-108114680-A-C c.497A>C p.Glu166Ala Missense 6/63 - 2
11-108114682-T-G c.499T>G p.Leu167Val Missense 6/63 - 1
11-108114695-A-G c.512A>G p.Tyr171Cys Missense 6/63 - 2
11-108114696-C-T c.513C>T p.Tyr171Tyr Synonymous 6/63 - 2
11-108114696-C-G c.513C>G p.Tyr171* Nonsense 6/63 - 1
11-108114696-C-A c.513C>A p.Tyr171* Nonsense 6/63 - 1
11-108114697-T-A c.514T>A p.Phe172Ile Missense 6/63 - 1
11-108114701-G-A c.518G>A p.Arg173Lys Missense 6/63 - 1
11-108114704-T-C c.521T>C p.Leu174Pro Missense 6/63 - 1
11-108114710-T-G c.527T>G p.Leu176Arg Missense 6/63 - 1
11-108114718-TC-GA c.535_536inv p.Ser179Glu Missense 6/63 - 1
11-108114727-G-A c.544G>A p.Val182Ile Missense 6/63 - 1
11-108114731-A-T c.548A>T p.His183Leu Missense 6/63 - 1
11-108114749-G-A c.566G>A p.Arg189Lys Missense 6/63 - 6
11-108114749-G-C c.566G>C p.Arg189Thr Missense 6/63 - 1
11-108114752-T-A c.569T>A p.Ile190Lys Missense 6/63 - 1
11-108114763-G-T c.580G>T p.Val194Phe Missense 6/63 - 1
11-108114766-A-G c.583A>G p.Thr195Ala Missense 6/63 - 2
11-108114766-A-AA c.583dup p.Thr195Asnfs*9 Frameshift 6/63 - 1
11-108114766-ACC-GAG c.583_585delinsGAG p.Thr195Glu Missense 6/63 - 1
11-108114769-AA-GC c.586_587delinsGC p.Lys196Ala Missense 6/63 - 1
11-108114772-GGA-AGC c.589_591delinsAGC p.Gly197Ser Missense 6/63 - 1
11-108114781-TC-GA c.598_599inv p.Ser200Asp Missense 6/63 - 1
11-108114784-C-T c.601C>T p.Gln201* Nonsense 6/63 - 1
11-108114791-A-C c.608A>C p.Asp203Ala Missense 6/63 - 2
11-108114793-G-T c.610G>T p.Gly204* Nonsense 6/63 - 1
11-108114812-T-G c.629T>G p.Leu210Trp Missense 6/63 - 1
11-108114823-T-G c.640T>G p.Ser214Ala Missense 6/63 - 1
11-108114823-T-C c.640T>C p.Ser214Pro Missense 6/63 - 1
11-108114823-TCC-GAG c.640_642delinsGAG p.Ser214Glu Missense 6/63 - 1
11-108114823-TT-T c.640del p.Ser214Profs*16 Frameshift 6/63 - 1
11-108114826-A-C c.643A>C p.Lys215Gln Missense 6/63 - 1
11-108114827-A-G c.644A>G p.Lys215Arg Missense 6/63 - 1
11-108114832-AT-GC c.649_650delinsGC p.Ile217Ala Missense 6/63 - 1
11-108114835-C-T c.652C>T p.Gln218* Nonsense 6/63 - 1
11-108114840-T-C c.657T>C p.Cys219Cys Synonymous 6/63 - 3
11-108114842-C-T c.659C>T p.Ala220Val Missense 6/63 - 2
11-108115515-GACAAGAAAAGAGCTCTTCAGGTCTAAATCATATCTTAGCAGCTCTTACTATCTTCCTCA-G c.664_722del p.Gln222Aspfs*12 Unclassified 7/63 - 1
11-108115522-A-G c.670A>G p.Lys224Glu Missense 7/63 - 3
11-108115525-AG-GC c.673_674delinsGC p.Ser225Ala Missense 7/63 - 1
11-108115528-T-G c.676T>G p.Ser226Ala Missense 7/63 - 1
11-108115541-A-G c.689A>G p.Asn230Ser Missense 7/63 - 1
11-108115561-A-G c.709A>G p.Thr237Ala Missense 7/63 - 2
11-108115580-T-C c.728T>C p.Leu243Ser Missense 7/63 - 2
11-108115587-C-G c.735C>G p.Val245Val Synonymous 7/63 - 4
11-108115587-C-T c.735C>T p.Val245Val Synonymous 7/63 - 7
11-108115593-T-TT c.741dup p.Arg248Serfs*6 Frameshift 7/63 - 1
11-108115594-CGA-TGG c.742_744delinsTGG p.Arg248Trp Missense 7/63 - 2
11-108115594-CG-GA c.742_743delinsGA p.Arg248Glu Missense 7/63 - 1
11-108115594-C-T c.742C>T p.Arg248* Nonsense 7/63 - 5
11-108115595-G-T c.743G>T p.Arg248Leu Missense 7/63 - 1
11-108115600-CGA-TGG c.748_750delinsTGG p.Arg250Trp Missense 7/63 - 1
11-108115600-C-T c.748C>T p.Arg250* Nonsense 7/63 - 5
11-108115612-TT-CC c.760_761delinsCC p.Leu254Pro Missense 7/63 - 3
11-108115627-C-T c.775C>T p.Leu259Phe Missense 7/63 - 1
11-108115630-C-A c.778C>A p.Pro260Thr Missense 7/63 - 1
11-108115639-CTT-GAG c.787_789delinsGAG p.Leu263Glu Missense 7/63 - 3
11-108115639-CT-GC c.787_788delinsGC p.Leu263Ala Missense 7/63 - 1
11-108115639-CT-AG c.787_788inv p.Leu263Ser Missense 7/63 - 1
11-108115642-TT-T c.790del p.Tyr264Ilefs*12 Frameshift 7/63 - 2
11-108115650-G-A c.798G>A p.Trp266* Nonsense 7/63 - 1
11-108115649-G-A c.797G>A p.Trp266* Nonsense 7/63 - 1
11-108115660-A-T c.808A>T p.Arg270Trp Missense 7/63 - 1
11-108115660-AGG-CAT c.808_810delinsCAT p.Arg270His Missense 7/63 - 15
11-108115669-G-A c.817G>A p.Asp273Asn Missense 7/63 - 1
11-108115669-GA-CG c.817_818delinsCG p.Asp273Arg Missense 7/63 - 2
11-108115670-A-C c.818A>C p.Asp273Ala Missense 7/63 - 1
11-108115676-TT-T c.824del p.Leu275* Frameshift 7/63 - 2
11-108115678-AA-GC c.826_827delinsGC p.Lys276Ala Missense 7/63 - 1
11-108115678-A-C c.826A>C p.Lys276Gln Missense 7/63 - 1
11-108115681-G-T c.829G>T p.Glu277* Nonsense 7/63 - 2
11-108115688-T-C c.836T>C p.Ile279Thr Missense 7/63 - 1
11-108115715-A-G c.863A>G p.Tyr288Cys Missense 7/63 - 8
11-108115727-C-T c.875C>T p.Pro292Leu Missense 7/63 - 2
11-108115730-A-C c.878A>C p.Lys293Thr Missense 7/63 - 1
11-108115738-A-C c.886A>C p.Lys296Gln Missense 7/63 - 1
11-108115739-A-G c.887A>G p.Lys296Arg Missense 7/63 - 1
11-108115741-A-G c.889A>G p.Thr297Ala Missense 7/63 - 1
11-108115741-ACC-GAG c.889_891delinsGAG p.Thr297Glu Missense 7/63 - 1
11-108115742-CC-AG c.890_891delinsAG p.Thr297Lys Missense 7/63 - 1
11-108115754-G-A c.901+1G>A - IntronicSNV - 7/62 1
11-108116482-A-C c.901+729A>C - IntronicSNV - 7/62 1
11-108117335-C-T c.902-356C>T - IntronicSNV - 7/62 6
11-108117697-A-C c.908A>C p.Tyr303Ser Missense 8/63 - 1
11-108117712-G-A c.923G>A p.Trp308* Nonsense 8/63 - 1
11-108117713-G-A c.924G>A p.Trp308* Nonsense 8/63 - 1
11-108117717-AG-TT c.928_929delinsTT p.Ser310Phe Missense 8/63 - 2
11-108117728-C-A c.939C>A p.Tyr313* Nonsense 8/63 - 2
11-108117735-T-C c.946T>C p.Tyr316His Missense 8/63 - 1
11-108117745-T-G c.956T>G p.Leu319Arg Missense 8/63 - 1
11-108117755-G-C c.966G>C p.Glu322Asp Missense 8/63 - 1
11-108117755-G-T c.966G>T p.Glu322Asp Missense 8/63 - 1
11-108117756-A-G c.967A>G p.Ile323Val Missense 8/63 - 1
11-108117759-AG-GC c.970_971delinsGC p.Ser324Ala Missense 8/63 - 1
11-108117766-T-C c.977T>C p.Ile326Thr Missense 8/63 - 1
11-108117768-G-A c.979G>A p.Gly327Arg Missense 8/63 - 1
11-108117771-AG-GA c.982_983delinsGA p.Ser328Asp Missense 8/63 - 1
11-108117771-AG-GC c.982_983delinsGC p.Ser328Ala Missense 8/63 - 5
11-108117777-G-A c.988G>A p.Gly330Arg Missense 8/63 - 1
11-108117777-G-C c.988G>C p.Gly330Arg Missense 8/63 - 1
11-108117779-A-G c.990A>G p.Gly330Gly Synonymous 8/63 - 1
11-108117780-AA-GC c.991_992delinsGC p.Lys331Ala Missense 8/63 - 1
11-108117784-A-G c.995A>G p.Tyr332Cys Missense 8/63 - 1
11-108117787-C-T c.998C>T p.Ser333Phe Missense 8/63 - 8
11-108117798-C-T c.1009C>T p.Arg337Cys Missense 8/63 - 12
11-108117798-C-A c.1009C>A p.Arg337Ser Missense 8/63 - 1
11-108117799-G-A c.1010G>A p.Arg337His Missense 8/63 - 8
11-108117807-G-T c.1018G>T p.Ala340Ser Missense 8/63 - 1
11-108117812-C-CT c.1023_1024insT p.Lys342* Nonsense 8/63 - 1
11-108117815-A-AA c.1026dup p.Glu343Argfs*5 Frameshift 8/63 - 1
11-108117816-AGAAA-A c.1027_1030del p.Glu343Ilefs*2 Frameshift 8/63 - 1
11-108117816-G-A c.1027G>A p.Glu343Lys Missense 8/63 - 1
11-108117826-T-A c.1037T>A p.Ile346Asn Missense 8/63 - 2
11-108117832-T-C c.1043T>C p.Leu348Ser Missense 8/63 - 1
11-108117833-G-C c.1044G>C p.Leu348Phe Missense 8/63 - 1
11-108117838-C-A c.1049C>A p.Ala350Glu Missense 8/63 - 1
11-108117847-TGT-T c.1058_1059del p.Cys353Serfs*5 Frameshift 8/63 - 3
11-108117852-C-T c.1063C>T p.Gln355* Nonsense 8/63 - 1
11-108119654-T-G c.1066-6T>G - IntronicSNV - 8/62 9
11-108119660-G-A c.1066G>A p.Val356Ile Missense 9/63 - 2
11-108119660-G-GG c.1066dup p.Val356Glyfs*3 SpliceAcceptorInsertion 9/63 - 1
11-108119665-TT-T c.1071del p.Phe357Leufs*33 Frameshift 9/63 - 1
11-108119681-T-G c.1087T>G p.Ser363Ala Missense 9/63 - 1
11-108119681-TC-AA c.1087_1088delinsAA p.Ser363Asn Missense 9/63 - 1
11-108119687-G-A c.1093G>A p.Glu365Lys Missense 9/63 - 1
11-108119693-T-C c.1099T>C p.Ser367Pro Missense 9/63 - 1
11-108119693-TC-GA c.1099_1100inv p.Ser367Asp Missense 9/63 - 1
11-108119693-T-G c.1099T>G p.Ser367Ala Missense 9/63 - 14
11-108119693-TCT-GAG c.1099_1101delinsGAG p.Ser367Glu Missense 9/63 - 1
11-108119694-TC-T c.1100del p.Ser367Phefs*23 Frameshift 9/63 - 2
11-108119703-A-T c.1109A>T p.Tyr370Phe Missense 9/63 - 1
11-108119704-C-G c.1110C>G p.Tyr370* Nonsense 9/63 - 1
11-108119704-C-A c.1110C>A p.Tyr370* Nonsense 9/63 - 1
11-108119708-ACT-GAG c.1114_1116delinsGAG p.Thr372Glu Missense 9/63 - 1
11-108119708-A-G c.1114A>G p.Thr372Ala Missense 9/63 - 1
11-108119709-CT-GG c.1115_1116delinsGG p.Thr372Arg Missense 9/63 - 1
11-108119711-AC-GA c.1117_1118delinsGA p.Thr373Glu Missense 9/63 - 1
11-108119711-A-G c.1117A>G p.Thr373Ala Missense 9/63 - 1
11-108119712-C-A c.1118C>A p.Thr373Lys Missense 9/63 - 1
11-108119714-C-T c.1120C>T p.Gln374* Nonsense 9/63 - 1
11-108119716-AAA-A c.1122_1123del p.Glu376Ilefs*2 Frameshift 9/63 - 1
11-108119719-A-AT c.1125_1126insT p.Glu376* Nonsense 9/63 - 1
11-108119720-AGA-A c.1126_1127del p.Glu376Ilefs*2 Frameshift 9/63 - 1
11-108119723-TC-GG c.1129_1130delinsGG p.Ser377Gly Missense 9/63 - 1
11-108119726-AG-GC c.1132_1133delinsGC p.Ser378Ala Missense 9/63 - 1
11-108119735-AGT-TGA c.1141_1143delinsTGA p.Ser381* Nonsense 9/63 - 1
11-108119741-C-G c.1147C>G p.Pro383Ala Missense 9/63 - 1
11-108119750-A-G c.1156A>G p.Arg386Gly Missense 9/63 - 1
11-108119757-A-G c.1163A>G p.Lys388Arg Missense 9/63 - 1
11-108119771-TG-GC c.1177_1178delinsGC p.Trp393Ala Missense 9/63 - 1
11-108119773-GGG-G c.1179_1180del p.Trp393* Frameshift 9/63 - 1
11-108119789-C-T c.1195C>T p.His399Tyr Missense 9/63 - 1
11-108119801-T-G c.1207T>G p.Ser403Ala Missense 9/63 - 5
11-108119809-AT-A c.1215del p.Asn405Lysfs*15 Frameshift 9/63 - 2
11-108119816-GAT-CAA c.1222_1224delinsCAA p.Asp408Gln Missense 9/63 - 1
11-108119817-A-C c.1223A>C p.Asp408Ala Missense 9/63 - 1
11-108119823-T-C c.1229T>C p.Val410Ala Missense 9/63 - 15
11-108119829-G-A c.1235G>A p.Trp412* Nonsense 9/63 - 1
11-108121428-G-A c.1236G>A p.Trp412* Nonsense 10/63 - 1
11-108120439-G-A c.1235+610G>A - IntronicSNV - 9/62 1
11-108121426-A-T c.1236-2A>T - IntronicSNV - 9/62 3
11-108121429-C-A c.1237C>A p.Leu413Ile Missense 10/63 - 1
11-108121446-A-G c.1254A>G p.Gln418Gln Synonymous 10/63 - 1
11-108121450-AA-A c.1258del p.Ile420Tyrfs*17 Frameshift 10/63 - 1
11-108121463-C-A c.1271C>A p.Pro424His Missense 10/63 - 1
11-108121477-TAACT-T c.1285_1288del p.Asn429Valfs*7 Frameshift 10/63 - 1
11-108121483-G-T c.1291G>T p.Glu431* Nonsense 10/63 - 1
11-108121483-G-A c.1291G>A p.Glu431Lys Missense 10/63 - 1
11-108121496-T-A c.1304T>A p.Leu435* Nonsense 10/63 - 1
11-108121498-C-A c.1306C>A p.Leu436Met Missense 10/63 - 1
11-108121510-T-G c.1318T>G p.Ser440Ala Missense 10/63 - 1
11-108121510-TC-GA c.1318_1319inv p.Ser440Asp Missense 10/63 - 1
11-108121531-C-T c.1339C>T p.Arg447* Nonsense 10/63 - 1
11-108121538-G-C c.1346G>C p.Gly449Ala Missense 10/63 - 1
11-108121543-C-T c.1351C>T p.Arg451Cys Missense 10/63 - 1
11-108121561-C-T c.1369C>T p.Arg457* Nonsense 10/63 - 3
11-108121574-A-C c.1382A>C p.Glu461Ala Missense 10/63 - 1
11-108121575-A-T c.1383A>T p.Glu461Asp Missense 10/63 - 1
11-108121575-A-C c.1383A>C p.Glu461Asp Missense 10/63 - 1
11-108121585-TG-AC c.1393_1394delinsAC p.Cys465Thr Missense 10/63 - 1
11-108121585-T-A c.1393T>A p.Cys465Ser Missense 10/63 - 1
11-108121586-G-C c.1394G>C p.Cys465Ser Missense 10/63 - 1
11-108121594-CAA-C c.1402_1403del p.Lys468Glufs*18 Frameshift 10/63 - 3
11-108121594-CAAGAG-C c.1402_1406del p.Lys468Valfs*17 Frameshift 10/63 - 1
11-108121601-C-G c.1409C>G p.Ser470* Nonsense 10/63 - 1
11-108121601-C-A c.1409C>A p.Ser470* Nonsense 10/63 - 1
11-108121612-AG-GC c.1420_1421delinsGC p.Ser474Ala Missense 10/63 - 2
11-108121612-AGC-CAA c.1420_1422delinsCAA p.Ser474Gln Missense 10/63 - 1
11-108121615-T-G c.1423T>G p.Ser475Ala Missense 10/63 - 1
11-108121618-CA-GC c.1426_1427delinsGC p.Gln476Ala Missense 10/63 - 1
11-108121624-TC-GT c.1432_1433delinsGT p.Ser478Val Missense 10/63 - 1
11-108121624-TCA-GAC c.1432_1434delinsGAC p.Ser478Asp Missense 10/63 - 1
11-108121624-T-G c.1432T>G p.Ser478Ala Missense 10/63 - 1
11-108121627-GA-AC c.1435_1436delinsAC p.Asp479Thr Missense 10/63 - 1
11-108121627-G-T c.1435G>T p.Asp479Tyr Missense 10/63 - 1
11-108121632-A-T c.1440A>T p.Leu480Phe Missense 10/63 - 1
11-108121632-A-C c.1440A>C p.Leu480Phe Missense 10/63 - 1
11-108121636-AA-GC c.1444_1445delinsGC p.Lys482Ala Missense 10/63 - 1
11-108121636-A-C c.1444A>C p.Lys482Gln Missense 10/63 - 1
11-108121652-TT-GG c.1460_1461delinsGG p.Ile487Arg Missense 10/63 - 1
11-108121655-G-A c.1463G>A p.Trp488* Nonsense 10/63 - 2
11-108121656-G-A c.1464G>A p.Trp488* Nonsense 10/63 - 2
11-108121656-G-T c.1464G>T p.Trp488Cys Missense 10/63 - 1
11-108121672-G-T c.1480G>T p.Gly494Cys Missense 10/63 - 1
11-108121692-A-G c.1500A>G p.Ile500Met Missense 10/63 - 1
11-108121702-AAACTTTG-A c.1510_1516del p.Asn504Alafs*6 Frameshift 10/63 - 1
11-108121708-GG-TT c.1516_1517delinsTT p.Gly506Phe Missense 10/63 - 1
11-108121708-G-T c.1516G>T p.Gly506Cys Missense 10/63 - 1
11-108121714-C-T c.1522C>T p.Leu508Phe Missense 10/63 - 1
11-108121717-G-T c.1525G>T p.Gly509* Nonsense 10/63 - 1
11-108121730-A-G c.1538A>G p.Gln513Arg Missense 10/63 - 1
11-108121733-G-A c.1541G>A p.Gly514Asp Missense 10/63 - 4
11-108121733-G-C c.1541G>C p.Gly514Ala Missense 10/63 - 1
11-108121735-AG-GC c.1543_1544delinsGC p.Ser515Ala Missense 10/63 - 1
11-108121741-G-A c.1549G>A p.Val517Ile Missense 10/63 - 1
11-108121753-A-T c.1561A>T p.Arg521* Nonsense 10/63 - 1
11-108121753-AGA-TGT c.1561_1563delinsTGT p.Arg521Cys Missense 10/63 - 1
11-108121754-G-C c.1562G>C p.Arg521Thr Missense 10/63 - 1
11-108121756-AGA-A c.1564_1565del p.Glu522Ilefs*43 Frameshift 10/63 - 11
11-108121756-G-T c.1564G>T p.Glu522* Nonsense 10/63 - 1
11-108121756-GA-AT c.1564_1565delinsAT p.Glu522Ile Missense 10/63 - 1
11-108121787-G-A c.1595G>A p.Cys532Tyr Missense 10/63 - 4
11-108121789-AG-GC c.1597_1598delinsGC p.Arg533Ala Missense 10/63 - 1
11-108121792-C-G c.1600C>G p.Pro534Ala Missense 10/63 - 1
11-108121795-T-G c.1603T>G p.Ser535Ala Missense 10/63 - 1
11-108121800-G-A c.1607+1G>A - IntronicSNV - 10/62 1
11-108122562-A-G c.1608-2A>G - IntronicSNV - 10/62 1
11-108122565-TCCTGCAGT-T c.1609_1616del p.Pro537Metfs*26 SpliceAcceptorDeletion 11/63 - 1
11-108122577-TG-AC c.1621_1622delinsAC p.Cys541Thr Missense 11/63 - 1
11-108122581-T-G c.1625T>G p.Leu542Trp Missense 11/63 - 1
11-108122583-A-G c.1627A>G p.Thr543Ala Missense 11/63 - 3
11-108122592-C-G c.1636C>G p.Leu546Val Missense 11/63 - 3
11-108122598-A-G c.1642A>G p.Thr548Ala Missense 11/63 - 1
11-108122607-GTT-TAA c.1651_1653delinsTAA p.Val551* Nonsense 11/63 - 1
11-108122613-G-T c.1657G>T p.Gly553* Nonsense 11/63 - 1
11-108122616-A-G c.1660A>G p.Thr554Ala Missense 11/63 - 1
11-108122655-A-G c.1699A>G p.Asn567Asp Missense 11/63 - 1
11-108122659-G-T c.1703G>T p.Arg568Ile Missense 11/63 - 1
11-108122661-AG-GC c.1705_1706delinsGC p.Ser569Ala Missense 11/63 - 1
11-108122665-T-C c.1709T>C p.Phe570Ser Missense 11/63 - 1
11-108122683-T-C c.1727T>C p.Ile576Thr Missense 11/63 - 1
11-108122692-G-A c.1736G>A p.Trp579* Nonsense 11/63 - 1
11-108122693-G-A c.1737G>A p.Trp579* Nonsense 11/63 - 1
11-108122700-T-C c.1744T>C p.Phe582Leu Missense 11/63 - 8
11-108122702-C-T c.1746C>T p.Phe582Phe Synonymous 11/63 - 1
11-108122740-T-C c.1784T>C p.Val595Ala Missense 11/63 - 1
11-108123189-C-T c.1803-355C>T - IntronicSNV - 11/62 6
11-108123189-C-A c.1803-355C>A - IntronicSNV - 11/62 6
11-108123536-C-T c.1803-8C>T - IntronicSNV - 11/62 1
11-108123545-A-G c.1804A>G p.Asn602Asp Missense 12/63 - 1
11-108123548-T-A c.1807T>A p.Phe603Ile Missense 12/63 - 1
11-108123551-C-T c.1810C>T p.Pro604Ser Missense 12/63 - 18
11-108123555-A-G c.1814A>G p.His605Arg Missense 12/63 - 1
11-108123557-CT-GC c.1816_1817delinsGC p.Leu606Ala Missense 12/63 - 1
11-108123570-A-C c.1829A>C p.Lys610Thr Missense 12/63 - 1
11-108123573-T-G c.1832T>G p.Ile611Ser Missense 12/63 - 1
11-108123581-AG-GC c.1840_1841delinsGC p.Ser614Ala Missense 12/63 - 2
11-108123588-C-T c.1847C>T p.Thr616Ile Missense 12/63 - 1
11-108123593-AA-GC c.1852_1853delinsGC p.Lys618Ala Missense 12/63 - 1
11-108123597-A-G c.1856A>G p.Asn619Ser Missense 12/63 - 1
11-108123603-A-G c.1862A>G p.Lys621Arg Missense 12/63 - 1
11-108123609-C-A c.1868C>A p.Ala623Glu Missense 12/63 - 2
11-108123629-G-A c.1888G>A p.Val630Met Missense 12/63 - 1
11-108123635-G-T c.1894G>T p.Glu632* Nonsense 12/63 - 1
11-108124486-T-A c.1899-55T>A - IntronicSNV - 12/62 1
11-108124486-T-G c.1899-55T>G - IntronicSNV - 12/62 4
11-108124560-A-T c.1918A>T p.Lys640* Nonsense 13/63 - 2
11-108124566-G-T c.1924G>T p.Glu642* Nonsense 13/63 - 1
11-108124572-T-G c.1930T>G p.Ser644Ala Missense 13/63 - 1
11-108124573-C-A c.1931C>A p.Ser644* Nonsense 13/63 - 3
11-108124582-A-G c.1940A>G p.Glu647Gly Missense 13/63 - 1
11-108124590-G-T c.1948G>T p.Glu650* Nonsense 13/63 - 1
11-108124602-C-A c.1960C>A p.Gln654Lys Missense 13/63 - 2
11-108124620-GA-G c.1978del p.Met660Trpfs*4 Frameshift 13/63 - 1
11-108124624-A-C c.1982A>C p.Asp661Ala Missense 13/63 - 1
11-108124628-T-C c.1986T>C p.Phe662Phe Synonymous 13/63 - 2
11-108124630-T-TCT c.1988_1989insCT p.Leu663Phefs*2 Frameshift 13/63 - 1
11-108124653-A-AA c.2011dup p.Ile671Asnfs*34 Frameshift 13/63 - 1
11-108124663-A-G c.2021A>G p.His674Arg Missense 13/63 - 1
11-108124668-T-G c.2026T>G p.Ser676Ala Missense 13/63 - 1
11-108124668-TCC-CAA c.2026_2028delinsCAA p.Ser676Gln Missense 13/63 - 1
11-108124720-G-A c.2078G>A p.Cys693Tyr Missense 13/63 - 1
11-108124723-T-G c.2081T>G p.Leu694Arg Missense 13/63 - 1
11-108124734-T-G c.2092T>G p.Ser698Ala Missense 13/63 - 1
11-108124738-A-G c.2096A>G p.Glu699Gly Missense 13/63 - 1
11-108124744-T-A c.2102T>A p.Leu701His Missense 13/63 - 4
11-108124747-TG-AT c.2105_2106delinsAT p.Leu702His Missense 13/63 - 7
11-108124761-T-G c.2119T>G p.Ser707Ala Missense 13/63 - 1
11-108124761-T-C c.2119T>C p.Ser707Pro Missense 13/63 - 24
11-108124762-C-A c.2120C>A p.Ser707Tyr Missense 13/63 - 1
11-108126951-T-G c.2134T>G p.Ser712Ala Missense 14/63 - 1
11-108126963-GTC-ATG c.2146_2148delinsATG p.Val716Met Missense 14/63 - 1
11-108126966-C-T c.2149C>T p.Arg717Trp Missense 14/63 - 3
11-108126967-G-A c.2150G>A p.Arg717Gln Missense 14/63 - 1
11-108126969-TGT-AAAC c.2152_2154delinsAAAC p.Cys718Lysfs*20 Frameshift 14/63 - 1
11-108126976-GT-AA c.2159_2160delinsAA p.Arg720Gln Missense 14/63 - 1
11-108126976-G-A c.2159G>A p.Arg720His Missense 14/63 - 1
11-108126981-T-C c.2164T>C p.Leu722Leu Synonymous 14/63 - 1
11-108126988-G-A c.2171G>A p.Gly724Asp Missense 14/63 - 1
11-108127009-A-AA c.2192dup p.Tyr731* Nonsense 14/63 - 1
11-108127010-C-T c.2193C>T p.Tyr731Tyr Synonymous 14/63 - 1
11-108127037-A-C c.2220A>C p.Ala740Ala Synonymous 14/63 - 1
11-108127040-ATAAGTCAG-A c.2223_2230del p.Tyr741* Frameshift 14/63 - 1
11-108127043-G-T c.2226G>T p.Lys742Asn Missense 14/63 - 1
11-108127067-G-A c.2250G>A p.Lys750Lys Synonymous 14/63 - 7
11-108128198-T-G c.2251-10T>G - IntronicSNV - 14/62 1
11-108128207-G-A c.2251-1G>A - IntronicSNV - 14/62 1
11-108128212-T-C c.2255T>C p.Leu752Pro Missense 15/63 - 1
11-108128232-A-G c.2275A>G p.Ser759Gly Missense 15/63 - 1
11-108128233-G-A c.2276G>A p.Ser759Asn Missense 15/63 - 1
11-108128235-AT-TG c.2278_2279delinsTG p.Ile760Cys Missense 15/63 - 1
11-108128241-TCT-T c.2284_2285del p.Leu762Valfs*2 Frameshift 15/63 - 2
11-108128246-T-A c.2289T>A p.Phe763Leu Missense 15/63 - 1
11-108128246-T-C c.2289T>C p.Phe763Phe Synonymous 15/63 - 1
11-108128287-G-A c.2330G>A p.Arg777Lys Missense 15/63 - 1
11-108128293-T-C c.2336T>C p.Met779Thr Missense 15/63 - 1
11-108128313-TG-AC c.2356_2357delinsAC p.Cys786Thr Missense 15/63 - 1
11-108129599-C-G c.2377-114C>G - IntronicSNV - 15/62 1
11-108129657-A-T c.2377-56A>T - IntronicSNV - 15/62 2
11-108129657-A-G c.2377-56A>G - IntronicSNV - 15/62 2
11-108129713-AA-GC c.2377_2378delinsGC p.Lys793Ala Missense 16/63 - 1
11-108129716-AG-GA c.2380_2381delinsGA p.Ser794Asp Missense 16/63 - 1
11-108129716-AG-GC c.2380_2381delinsGC p.Ser794Ala Missense 16/63 - 1
11-108129749-C-T c.2413C>T p.Arg805* Nonsense 16/63 - 7
11-108129749-CG-GA c.2413_2414delinsGA p.Arg805Glu Missense 16/63 - 5
11-108129750-G-A c.2414G>A p.Arg805Gln Missense 16/63 - 1
11-108129750-GA-AT c.2414_2415delinsAT p.Arg805His Missense 16/63 - 1
11-108129754-G-C c.2418G>C p.Leu806Phe Missense 16/63 - 1
11-108129754-G-T c.2418G>T p.Leu806Phe Missense 16/63 - 1
11-108129761-T-G c.2425T>G p.Ser809Ala Missense 16/63 - 1
11-108129762-C-A c.2426C>A p.Ser809* Nonsense 16/63 - 2
11-108129778-C-A c.2442C>A p.Asp814Glu Missense 16/63 - 3
11-108129801-T-C c.2465T>C p.Leu822Ser Missense 16/63 - 1
11-108130712-G-A c.2466+910G>A - IntronicSNV - 16/62 2
11-108130712-G-T c.2466+910G>T - IntronicSNV - 16/62 2
11-108136546-C-T c.2467-1352C>T - IntronicSNV - 16/62 1
11-108137775-T-A c.2467-123T>A - IntronicSNV - 16/62 1
11-108137775-T-G c.2467-123T>G - IntronicSNV - 16/62 1
11-108137901-TC-GA c.2470_2471inv p.Ser824Asp Missense 17/63 - 7
11-108137901-T-C c.2470T>C p.Ser824Pro Missense 17/63 - 3
11-108137901-T-G c.2470T>G p.Ser824Ala Missense 17/63 - 8
11-108137903-C-T c.2472C>T p.Ser824Ser Synonymous 17/63 - 1
11-108137903-C-G c.2472C>G p.Ser824Ser Synonymous 17/63 - 1
11-108137903-C-A c.2472C>A p.Ser824Ser Synonymous 17/63 - 1
11-108137907-A-C c.2476A>C p.Ile826Leu Missense 17/63 - 1
11-108137912-A-AT c.2481_2482insT p.Lys828* Nonsense 17/63 - 1
11-108137914-AA-A c.2483del p.Lys828Serfs*8 Frameshift 17/63 - 1
11-108137925-C-T c.2494C>T p.Arg832Cys Missense 17/63 - 1
11-108137933-A-AA c.2502dup p.Val835Serfs*7 Frameshift 17/63 - 2
11-108137934-GT-TC c.2503_2504delinsTC p.Val835Ser Missense 17/63 - 1
11-108137934-AGTAGA-A c.2503_2507del p.Val835Ilefs*5 Frameshift 17/63 - 1
11-108137938-A-C c.2507A>C p.Glu836Ala Missense 17/63 - 1
11-108137950-A-T c.2519A>T p.Asp840Val Missense 17/63 - 1
11-108137952-G-T c.2521G>T p.Asp841Tyr Missense 17/63 - 1
11-108137973-G-A c.2542G>A p.Glu848Lys Missense 17/63 - 1
11-108137973-G-C c.2542G>C p.Glu848Gln Missense 17/63 - 1
11-108137983-A-G c.2552A>G p.Asp851Gly Missense 17/63 - 1
11-108137985-C-T c.2554C>T p.Gln852* Nonsense 17/63 - 2
11-108137998-A-T c.2567A>T p.Asn856Ile Missense 17/63 - 1
11-108138001-T-G c.2570T>G p.Leu857Arg Missense 17/63 - 1
11-108138003-T-C c.2572T>C p.Phe858Leu Missense 17/63 - 53
11-108138004-TT-AA c.2573_2574inv p.Phe858* Nonsense 17/63 - 1
11-108138012-T-C c.2581T>C p.Tyr861His Missense 17/63 - 1
11-108138018-GA-CG c.2587_2588delinsCG p.Asp863Arg Missense 17/63 - 1
11-108138025-G-A c.2594G>A p.Ser865Asn Missense 17/63 - 1
11-108138027-GTT-ATG c.2596_2598delinsATG p.Val866Met Missense 17/63 - 1
11-108138039-A-G c.2608A>G p.Asn870Asp Missense 17/63 - 2
11-108138042-G-A c.2611G>A p.Glu871Lys Missense 17/63 - 1
11-108138045-C-T c.2614C>T p.Pro872Ser Missense 17/63 - 5
11-108138045-C-A c.2614C>A p.Pro872Thr Missense 17/63 - 2
11-108138063-A-G c.2632A>G p.Thr878Ala Missense 17/63 - 15
11-108138753-A-G c.2639-384A>G - IntronicSNV - 17/62 1
11-108139118-TGAGTGCTTTTTAT-T c.2639-19_2639-7del - IntronicDeletion - 17/62 1
11-108139138-GT-G c.2640del p.Ala881Profs*5 Frameshift 18/63 - 1
11-108139143-T-C c.2645T>C p.Ile882Thr Missense 18/63 - 1
11-108139148-C-T c.2650C>T p.Pro884Ser Missense 18/63 - 1
11-108139170-C-G c.2672C>G p.Ser891* Nonsense 18/63 - 1
11-108139178-AG-A c.2680del p.Asp894Ilefs*5 Frameshift 18/63 - 1
11-108139183-A-G c.2685A>G p.Leu895Leu Synonymous 18/63 - 1
11-108139187-T-A c.2689T>A p.Phe897Ile Missense 18/63 - 1
11-108139197-T-C c.2699T>C p.Met900Thr Missense 18/63 - 1
11-108139218-TGTGT-T c.2720_2723del p.Cys907* Frameshift 18/63 - 2
11-108139232-C-G c.2734C>G p.Gln912Glu Missense 18/63 - 1
11-108139268-C-T c.2770C>T p.Arg924Trp Missense 18/63 - 3
11-108139269-G-A c.2771G>A p.Arg924Gln Missense 18/63 - 1
11-108139271-A-G c.2773A>G p.Arg925Gly Missense 18/63 - 1
11-108139275-A-G c.2777A>G p.Lys926Arg Missense 18/63 - 1
11-108139302-C-T c.2804C>T p.Thr935Met Missense 18/63 - 1
11-108139302-C-G c.2804C>G p.Thr935Arg Missense 18/63 - 2
11-108139303-G-C c.2805G>C p.Thr935Thr Synonymous 18/63 - 2
11-108139322-C-T c.2824C>T p.Leu942Phe Missense 18/63 - 1
11-108139334-A-AA c.2836dup p.Met946Asnfs*23 SpliceDonorInsertion 18/63 - 1
11-108140516-A-G c.2838+1180A>G - IntronicSNV - 18/62 4
11-108141212-TAAGT-T c.2839-579_2839-576del - IntronicDeletion - 18/62 1
11-108141493-GG-G c.2839-298del - IntronicDeletion - 18/62 1
11-108141801-T-G c.2849T>G p.Leu950Arg Missense 19/63 - 2
11-108141809-G-A c.2857G>A p.Glu953Lys Missense 19/63 - 1
11-108141831-C-T c.2879C>T p.Pro960Leu Missense 19/63 - 2
11-108141832-CC-C c.2880del p.Leu961Cysfs*10 Frameshift 19/63 - 1
11-108141870-T-G c.2918T>G p.Leu973Arg Missense 19/63 - 1
11-108141873-C-T c.2921C>T p.Ser974Phe Missense 19/63 - 1
11-108141874-G-A c.2921+1G>A - IntronicSNV - 19/62 3
11-108141977-G-T c.2922-1G>T - IntronicSNV - 19/62 1
11-108141988-T-C c.2932T>C p.Ser978Pro Missense 20/63 - 3
11-108141989-C-T c.2933C>T p.Ser978Phe Missense 20/63 - 1
11-108142000-C-T c.2944C>T p.Arg982Cys Missense 20/63 - 1
11-108142001-G-A c.2945G>A p.Arg982His Missense 20/63 - 1
11-108142061-G-C c.3005G>C p.Gly1002Ala Missense 20/63 - 1
11-108142063-C-T c.3007C>T p.Gln1003* Nonsense 20/63 - 1
11-108142066-AG-GA c.3010_3011delinsGA p.Ser1004Asp Missense 20/63 - 1
11-108142066-AG-GC c.3010_3011delinsGC p.Ser1004Ala Missense 20/63 - 2
11-108142067-G-A c.3011G>A p.Ser1004Asn Missense 20/63 - 1
11-108142070-A-G c.3014A>G p.Asn1005Ser Missense 20/63 - 1
11-108142080-T-TT c.3024dup p.Glu1009* Nonsense 20/63 - 1
11-108142091-G-A c.3035G>A p.Arg1012Lys Missense 20/63 - 1
11-108142092-G-GT c.3036_3037insT p.Asp1013* Nonsense 20/63 - 1
11-108142094-A-AA c.3038dup p.Asp1013Glufs*35 Frameshift 20/63 - 1
11-108142108-T-C c.3052T>C p.Phe1018Leu Missense 20/63 - 1
11-108142110-T-A c.3054T>A p.Phe1018Leu Missense 20/63 - 1
11-108142110-T-G c.3054T>G p.Phe1018Leu Missense 20/63 - 1
11-108142114-A-AA c.3058dup p.Thr1020Asnfs*28 Frameshift 20/63 - 1
11-108142115-C-T c.3059C>T p.Thr1020Ile Missense 20/63 - 1
11-108142617-G-A c.3077+484G>A - IntronicSNV - 20/62 1
11-108143182-C-T c.3078-77C>T - IntronicSNV - 20/62 22
11-108143182-C-A c.3078-77C>A - IntronicSNV - 20/62 22
11-108143259-G-C c.3078G>C p.Trp1026Cys Missense 21/63 - 1
11-108143259-G-T c.3078G>T p.Trp1026Cys Missense 21/63 - 1
11-108143266-A-AA c.3085dup p.Thr1029Asnfs*19 Frameshift 21/63 - 1
11-108143279-A-G c.3098A>G p.Lys1033Arg Missense 21/63 - 1
11-108143283-T-G c.3102T>G p.Tyr1034* Nonsense 21/63 - 1
11-108143287-T-C c.3106T>C p.Phe1036Leu Missense 21/63 - 1
11-108143289-C-A c.3108C>A p.Phe1036Leu Missense 21/63 - 1
11-108143289-C-G c.3108C>G p.Phe1036Leu Missense 21/63 - 1
11-108143293-GT-TA c.3112_3113delinsTA p.Val1038* Nonsense 21/63 - 1
11-108143294-T-C c.3113T>C p.Val1038Ala Missense 21/63 - 1
11-108143296-AG-CT c.3115_3116inv p.Arg1039Leu Missense 21/63 - 1
11-108143296-A-T c.3115A>T p.Arg1039* Nonsense 21/63 - 1
11-108143299-A-G c.3118A>G p.Met1040Val Missense 21/63 - 4
11-108143330-T-C c.3149T>C p.Leu1050Pro Missense 21/63 - 1
11-108143335-G-A c.3153+1G>A - IntronicSNV - 21/62 1
11-108143447-A-C c.3154-2A>C - IntronicSNV - 21/62 1
11-108143456-C-A c.3161C>A p.Pro1054His Missense 22/63 - 16
11-108143456-C-G c.3161C>G p.Pro1054Arg Missense 22/63 - 58
11-108143464-A-T c.3169A>T p.Lys1057* Nonsense 22/63 - 1
11-108143469-G-A c.3174G>A p.Trp1058* Nonsense 22/63 - 1
11-108143480-AA-A c.3185del p.Asn1062Metfs*2 Frameshift 22/63 - 1
11-108143487-G-C c.3192G>C p.Met1064Ile Missense 22/63 - 1
11-108143487-G-T c.3192G>T p.Met1064Ile Missense 22/63 - 1
11-108143487-G-A c.3192G>A p.Met1064Ile Missense 22/63 - 1
11-108143501-CC-C c.3206del p.Pro1069Leufs*2 Frameshift 22/63 - 2
11-108143503-G-A c.3208G>A p.Val1070Ile Missense 22/63 - 1
11-108143509-G-T c.3214G>T p.Glu1072* Nonsense 22/63 - 2
11-108143513-T-TT c.3218dup p.Phe1074Ilefs*7 Frameshift 22/63 - 1
11-108143518-A-G c.3223A>G p.Thr1075Ala Missense 22/63 - 1
11-108143531-C-T c.3236C>T p.Ala1079Val Missense 22/63 - 1
11-108143535-C-A c.3240C>A p.Asp1080Glu Missense 22/63 - 2
11-108143539-C-CG c.3244_3245insG p.His1082Argfs*14 Frameshift 22/63 - 1
11-108143539-C-CTG c.3244_3245insTG p.His1082Leufs*28 Frameshift 22/63 - 1
11-108143540-ATC-TGAT c.3245_3247delinsTGAT p.His1082Leufs*14 Frameshift 22/63 - 4
11-108143543-A-G c.3248A>G p.His1083Arg Missense 22/63 - 1
11-108143566-G-A c.3271G>A p.Glu1091Lys Missense 22/63 - 1
11-108143570-C-A c.3275C>A p.Ser1092* Nonsense 22/63 - 1
11-108145249-C-T c.3284+1670C>T - IntronicSNV - 22/62 1
11-108148839-A-G c.3285-1379A>G - IntronicSNV - 22/62 3
11-108148839-A-T c.3285-1379A>T - IntronicSNV - 22/62 3
11-108149207-T-G c.3285-1011T>G - IntronicSNV - 22/62 2
11-108150209-TT-T c.3285-9del - IntronicDeletion - 22/62 2
11-108150253-T-A c.3320T>A p.Leu1107* Nonsense 23/63 - 1
11-108150259-A-G c.3326A>G p.Lys1109Arg Missense 23/63 - 1
11-108150265-T-C c.3332T>C p.Leu1111Pro Missense 23/63 - 1
11-108150267-C-G c.3334C>G p.Pro1112Ala Missense 23/63 - 1
11-108150273-A-T c.3340A>T p.Lys1114* Nonsense 23/63 - 1
11-108150274-A-G c.3341A>G p.Lys1114Arg Missense 23/63 - 1
11-108150305-C-G c.3372C>G p.Tyr1124* Nonsense 23/63 - 1
11-108150308-G-T c.3375G>T p.Leu1125Phe Missense 23/63 - 1
11-108150308-G-C c.3375G>C p.Leu1125Phe Missense 23/63 - 1
11-108150313-C-T c.3380C>T p.Ala1127Val Missense 23/63 - 1
11-108150314-CTCAG-C c.3381_3384del p.Gln1128Lysfs*3 Frameshift 23/63 - 1
11-108150316-A-G c.3383A>G p.Gln1128Arg Missense 23/63 - 2
11-108150351-A-G c.3402+16A>G - IntronicSNV - 23/62 1
11-108150367-TCAT-T c.3402+32_3402+34del - IntronicDeletion - 23/62 1
11-108151722-GTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTT-G c.3403_3461del p.Ser1135Thrfs*11 InFrameDeletion 24/63 - 1
11-108151763-T-A c.3444T>A p.Tyr1148* Nonsense 24/63 - 1
11-108151763-T-G c.3444T>G p.Tyr1148* Nonsense 24/63 - 1
11-108151773-T-G c.3454T>G p.Ser1152Ala Missense 24/63 - 2
11-108151786-C-T c.3467C>T p.Thr1156Met Missense 24/63 - 1
11-108151801-T-G c.3482T>G p.Val1161Gly Missense 24/63 - 1
11-108151823-C-CT c.3504_3505insT p.Glu1169* Nonsense 24/63 - 1
11-108151830-C-T c.3511C>T p.Gln1171* Nonsense 24/63 - 1
11-108151868-T-C c.3549T>C p.Asn1183Asn Synonymous 24/63 - 1
11-108151879-C-G c.3560C>G p.Pro1187Arg Missense 24/63 - 1
11-108151893-AAAG-A c.3574_3576del p.Lys1192del InFrameDeletion 24/63 - 1
11-108151895-G-A c.3576G>A p.Lys1192Lys Synonymous 24/63 - 4
11-108152582-C-T c.3576+687C>T - IntronicSNV - 24/62 4
11-108152582-C-G c.3576+687C>G - IntronicSNV - 24/62 4
11-108153449-GTT-ATG c.3589_3591delinsATG p.Val1197Met Missense 25/63 - 1
11-108153450-T-C c.3590T>C p.Val1197Ala Missense 25/63 - 1
11-108153469-AT-A c.3609del p.Tyr1203* Frameshift 25/63 - 1
11-108153473-C-T c.3613C>T p.Arg1205Cys Missense 25/63 - 1
11-108153476-T-G c.3616T>G p.Leu1206Val Missense 25/63 - 1
11-108153506-T-C c.3646T>C p.Tyr1216His Missense 25/63 - 1
11-108153523-G-A c.3663G>A p.Trp1221* Nonsense 25/63 - 1
11-108153527-A-G c.3667A>G p.Asn1223Asp Missense 25/63 - 1
11-108153528-A-G c.3668A>G p.Asn1223Ser Missense 25/63 - 1
11-108153533-C-T c.3673C>T p.Gln1225* Nonsense 25/63 - 2
11-108153563-C-T c.3703C>T p.Pro1235Ser Missense 25/63 - 1
11-108153572-TTTATT-T c.3712_3716del p.Leu1238Lysfs*6 Frameshift 25/63 - 2
11-108153573-T-A c.3713T>A p.Leu1238* Nonsense 25/63 - 1
11-108153573-T-G c.3713T>G p.Leu1238* Nonsense 25/63 - 1
11-108153583-C-G c.3723C>G p.Tyr1241* Nonsense 25/63 - 1
11-108153583-C-A c.3723C>A p.Tyr1241* Nonsense 25/63 - 1
11-108153584-ACA-TGT c.3724_3726inv p.Thr1242Cys Missense 25/63 - 1
11-108153602-T-TGGAGGTTCT c.3742_3743insGGAGGTTCT p.Phe1247_Tyr1248insTrpArgPhe InFrameInsertion 25/63 - 1
11-108153603-A-G c.3743A>G p.Tyr1248Cys Missense 25/63 - 1
11-108154097-G-C c.3746+491G>C - IntronicSNV - 25/62 3
11-108154953-G-A c.3747-1G>A - IntronicSNV - 25/62 1
11-108154965-A-G c.3758A>G p.Lys1253Arg Missense 26/63 - 1
11-108154966-G-T c.3759G>T p.Lys1253Asn Missense 26/63 - 1
11-108155005-T-TT c.3798dup p.Glu1267* Nonsense 26/63 - 3
11-108155009-GG-G c.3802del p.Val1268* Frameshift 26/63 - 10
11-108155013-A-G c.3806A>G p.Lys1269Arg Missense 26/63 - 1
11-108155057-AA-A c.3850del p.Thr1284Glnfs*9 Frameshift 26/63 - 1
11-108155085-A-G c.3878A>G p.Asn1293Ser Missense 26/63 - 1
11-108155093-C-T c.3886C>T p.Pro1296Ser Missense 26/63 - 2
11-108155101-T-TT c.3894dup p.Ala1299Cysfs*3 Frameshift 26/63 - 1
11-108155109-A-G c.3902A>G p.Glu1301Gly Missense 26/63 - 1
11-108155116-C-CC c.3909dup p.Arg1304Glnfs*17 Frameshift 26/63 - 1
11-108155117-A-C c.3910A>C p.Arg1304Arg Synonymous 26/63 - 1
11-108155119-A-G c.3912A>G p.Arg1304Arg Synonymous 26/63 - 2
11-108155132-G-A c.3925G>A p.Ala1309Thr Missense 26/63 - 8
11-108155141-A-G c.3934A>G p.Arg1312Gly Missense 26/63 - 1
11-108155143-A-AT c.3936_3937insT p.Glu1313* Nonsense 26/63 - 1
11-108155151-C-T c.3944C>T p.Ala1315Val Missense 26/63 - 1
11-108155175-A-G c.3968A>G p.Lys1323Arg Missense 26/63 - 1
11-108155175-A-T c.3968A>T p.Lys1323Ile Missense 26/63 - 1
11-108155185-C-A c.3978C>A p.Asn1326Lys Missense 26/63 - 1
11-108155187-T-G c.3980T>G p.Leu1327* Nonsense 26/63 - 2
11-108155187-T-A c.3980T>A p.Leu1327* Nonsense 26/63 - 2
11-108155193-G-C c.3986G>C p.Gly1329Ala Missense 26/63 - 1
11-108155200-G-T c.3993G>T p.Gln1331His Missense 26/63 - 1
11-108155200-G-C c.3993G>C p.Gln1331His Missense 26/63 - 1
11-108155201-G-A c.3993+1G>A - IntronicSNV - 26/62 2
11-108155205-G-T c.3993+5G>T - IntronicSNV - 26/62 3
11-108158134-T-C c.3994-193T>C - IntronicSNV - 26/62 12
11-108158230-G-T c.3994-97G>T - IntronicSNV - 26/62 3
11-108158230-G-A c.3994-97G>A - IntronicSNV - 26/62 3
11-108158285-G-T c.3994-42G>T - IntronicSNV - 26/62 1
11-108158286-A-G c.3994-41A>G - IntronicSNV - 26/62 1
11-108158286-A-T c.3994-41A>T - IntronicSNV - 26/62 1
11-108158288-A-G c.3994-39A>G - IntronicSNV - 26/62 1
11-108158289-T-C c.3994-38T>C - IntronicSNV - 26/62 1
11-108158325-A-G c.3994-2A>G - IntronicSNV - 26/62 1
11-108158340-T-TA c.4007_4008insA p.Phe1336Leufs*3 Frameshift 27/63 - 1
11-108158373-TT-T c.4040del p.Leu1347Tyrfs*2 Frameshift 27/63 - 1
11-108158382-C-T c.4049C>T p.Thr1350Met Missense 27/63 - 1
11-108158393-C-A c.4060C>A p.Pro1354Thr Missense 27/63 - 1
11-108158414-C-T c.4081C>T p.Gln1361* Nonsense 27/63 - 1
11-108158415-A-G c.4082A>G p.Gln1361Arg Missense 27/63 - 1
11-108158420-AC-GG c.4087_4088delinsGG p.Thr1363Gly Missense 27/63 - 1
11-108158438-T-G c.4105T>G p.Ser1369Ala Missense 27/63 - 5
11-108158439-C-A c.4106C>A p.Ser1369* Nonsense 27/63 - 1
11-108158439-C-G c.4106C>G p.Ser1369* Nonsense 27/63 - 1
11-108159051-G-T c.4109+609G>T - IntronicSNV - 27/62 1
11-108159705-G-GG c.4111dup p.Asp1371Glyfs*7 SpliceAcceptorInsertion 28/63 - 1
11-108159705-GG-G c.4111del p.Asp1371Ilefs*15 Frameshift 28/63 - 1
11-108159732-C-T c.4138C>T p.His1380Tyr Missense 28/63 - 11
11-108159734-T-C c.4140T>C p.His1380His Synonymous 28/63 - 1
11-108159737-T-TT c.4143dup p.Pro1382Serfs*6 Frameshift 28/63 - 1
11-108159742-C-T c.4148C>T p.Ser1383Leu Missense 28/63 - 2
11-108159801-AG-CC c.4207_4208delinsCC p.Ser1403Pro Missense 28/63 - 1
11-108159801-AG-GA c.4207_4208delinsGA p.Ser1403Asp Missense 28/63 - 1
11-108159801-AG-GC c.4207_4208delinsGC p.Ser1403Ala Missense 28/63 - 2
11-108160329-G-A c.4237G>A p.Asp1413Asn Missense 29/63 - 1
11-108160350-C-T c.4258C>T p.Leu1420Phe Missense 29/63 - 27
11-108160398-C-T c.4306C>T p.His1436Tyr Missense 29/63 - 1
11-108160416-T-C c.4324T>C p.Tyr1442His Missense 29/63 - 3
11-108160421-C-A c.4329C>A p.His1443Gln Missense 29/63 - 1
11-108160438-T-A c.4346T>A p.Leu1449* Nonsense 29/63 - 1
11-108160438-T-G c.4346T>G p.Leu1449* Nonsense 29/63 - 1
11-108160440-C-T c.4348C>T p.Leu1450Leu Synonymous 29/63 - 1
11-108160441-T-C c.4349T>C p.Leu1450Pro Missense 29/63 - 1
11-108160454-A-T c.4362A>T p.Lys1454Asn Missense 29/63 - 3
11-108160454-A-C c.4362A>C p.Lys1454Asn Missense 29/63 - 3
11-108160457-T-C c.4365T>C p.Ser1455Ser Synonymous 29/63 - 1
11-108160462-T-G c.4370T>G p.Leu1457* Nonsense 29/63 - 1
11-108160462-T-A c.4370T>A p.Leu1457* Nonsense 29/63 - 1
11-108160467-G-A c.4375G>A p.Gly1459Arg Missense 29/63 - 2
11-108160468-GA-AC c.4376_4377delinsAC p.Gly1459Asp Missense 29/63 - 2
11-108160480-T-G c.4388T>G p.Phe1463Cys Missense 29/63 - 12
11-108160486-T-C c.4394T>C p.Leu1465Pro Missense 29/63 - 1
11-108160488-C-T c.4396C>T p.Arg1466* Nonsense 29/63 - 5
11-108160488-C-G c.4396C>G p.Arg1466Gly Missense 29/63 - 1
11-108160507-T-TT c.4415dup p.Leu1472Phefs*19 Frameshift 29/63 - 1
11-108160508-G-T c.4416G>T p.Leu1472Phe Missense 29/63 - 1
11-108160508-G-C c.4416G>C p.Leu1472Phe Missense 29/63 - 1
11-108160512-C-G c.4420C>G p.His1474Asp Missense 29/63 - 1
11-108160516-A-G c.4424A>G p.Tyr1475Cys Missense 29/63 - 5
11-108161202-T-A c.4436+674T>A - IntronicSNV - 29/62 3
11-108163380-T-G c.4471T>G p.Phe1491Val Missense 30/63 - 1
11-108163386-C-G c.4477C>G p.Leu1493Val Missense 30/63 - 1
11-108163393-G-T c.4484G>T p.Cys1495Phe Missense 30/63 - 1
11-108163400-A-C c.4491A>C p.Leu1497Phe Missense 30/63 - 1
11-108163400-A-T c.4491A>T p.Leu1497Phe Missense 30/63 - 1
11-108163416-C-T c.4507C>T p.Gln1503* Nonsense 30/63 - 1
11-108163443-G-T c.4534G>T p.Ala1512Ser Missense 30/63 - 1
11-108163443-G-A c.4534G>A p.Ala1512Thr Missense 30/63 - 1
11-108163473-G-C c.4564G>C p.Gly1522Arg Missense 30/63 - 2
11-108163487-C-T c.4578C>T p.Pro1526Pro Synonymous 30/63 - 15
11-108163487-C-A c.4578C>A p.Pro1526Pro Synonymous 30/63 - 7
11-108163487-C-G c.4578C>G p.Pro1526Pro Synonymous 30/63 - 7
11-108163497-G-T c.4588G>T p.Glu1530* Nonsense 30/63 - 1
11-108163506-G-C c.4597G>C p.Glu1533Gln Missense 30/63 - 1
11-108163518-C-T c.4609C>T p.Gln1537* Nonsense 30/63 - 1
11-108163733-A-T c.4611+213A>T - IntronicSNV - 30/62 1
11-108163733-A-C c.4611+213A>C - IntronicSNV - 30/62 1
11-108163733-A-G c.4611+213A>G - IntronicSNV - 30/62 1
11-108164043-ATTGGACTTGTTGAAATACTTAGTGATAGATAACAAGGATAATGAAAACCTCTATATCAC-A c.4615_4673del p.Leu1539Aspfs*2 InFrameDeletion 31/63 - 1
11-108164070-GAT-ATG c.4642_4644delinsATG p.Asp1548Met Missense 31/63 - 1
11-108164085-G-A c.4657G>A p.Glu1553Lys Missense 31/63 - 1
11-108164092-T-A c.4664T>A p.Leu1555His Missense 31/63 - 1
11-108164101-C-T c.4673C>T p.Thr1558Met Missense 31/63 - 1
11-108164137-T-C c.4709T>C p.Val1570Ala Missense 31/63 - 1
11-108164143-A-G c.4715A>G p.Lys1572Arg Missense 31/63 - 1
11-108164150-G-T c.4722G>T p.Leu1574Phe Missense 31/63 - 1
11-108164150-G-C c.4722G>C p.Leu1574Phe Missense 31/63 - 1
11-108164169-A-AA c.4741dup p.Ile1581Asnfs*5 Frameshift 31/63 - 1
11-108164183-A-T c.4755A>T p.Arg1585Ser Missense 31/63 - 1
11-108164183-A-C c.4755A>C p.Arg1585Ser Missense 31/63 - 1
11-108164185-G-C c.4757G>C p.Gly1586Ala Missense 31/63 - 1
11-108164196-C-T c.4768C>T p.Leu1590Phe Missense 31/63 - 2
11-108164204-G-C c.4776G>C p.Glu1592Asp Missense 31/63 - 1
11-108164204-G-T c.4776G>T p.Glu1592Asp Missense 31/63 - 1
11-108164206-T-A c.4776+2T>A - IntronicSNV - 31/62 1
11-108164206-T-C c.4776+2T>C - IntronicSNV - 31/62 2
11-108165676-GT-G c.4799del p.Val1600Glufs*9 Frameshift 32/63 - 1
11-108165719-A-ACT c.4842_4843insCT p.Lys1615Leufs*19 Frameshift 32/63 - 1
11-108165729-C-T c.4852C>T p.Arg1618* Nonsense 32/63 - 2
11-108165732-A-G c.4855A>G p.Arg1619Gly Missense 32/63 - 1
11-108165747-C-T c.4870C>T p.His1624Tyr Missense 32/63 - 1
11-108165771-A-G c.4894A>G p.Met1632Val Missense 32/63 - 1
11-108165774-A-G c.4897A>G p.Arg1633Gly Missense 32/63 - 1
11-108165783-C-T c.4906C>T p.Gln1636* Nonsense 32/63 - 1
11-108165787-G-A c.4909+1G>A - IntronicSNV - 32/62 3
11-108168007-T-C c.4910-7T>C - IntronicSNV - 32/62 1
11-108168007-T-A c.4910-7T>A - IntronicSNV - 32/62 1
11-108168053-A-G c.4949A>G p.Asn1650Ser Missense 33/63 - 2
11-108168068-C-A c.4964C>A p.Ser1655Tyr Missense 33/63 - 1
11-108168863-A-G c.5005+754A>G - IntronicSNV - 33/62 3
11-108168995-A-C c.5005+886A>C - IntronicSNV - 33/62 6
11-108170442-G-T c.5007G>T p.Glu1669Asp Missense 34/63 - 1
11-108170450-G-C c.5015G>C p.Gly1672Ala Missense 34/63 - 1
11-108170474-C-T c.5039C>T p.Pro1680Leu Missense 34/63 - 1
11-108170477-T-C c.5042T>C p.Ile1681Thr Missense 34/63 - 1
11-108170479-G-T c.5044G>T p.Asp1682Tyr Missense 34/63 - 1
11-108170506-A-T c.5071A>T p.Ser1691Cys Missense 34/63 - 1
11-108170506-A-C c.5071A>C p.Ser1691Arg Missense 34/63 - 9
11-108170512-G-A c.5077G>A p.Asp1693Asn Missense 34/63 - 1
11-108170525-C-T c.5090C>T p.Thr1697Ile Missense 34/63 - 1
11-108170527-A-T c.5092A>T p.Lys1698* Nonsense 34/63 - 1
11-108170531-C-T c.5096C>T p.Ala1699Val Missense 34/63 - 1
11-108170547-A-T c.5112A>T p.Glu1704Asp Missense 34/63 - 1
11-108170547-A-C c.5112A>C p.Glu1704Asp Missense 34/63 - 1
11-108170553-AAGAA-A c.5118_5121del p.Lys1706Asnfs*7 Frameshift 34/63 - 1
11-108170591-AA-A c.5156del p.Asn1719Ilefs*5 Frameshift 34/63 - 1
11-108170605-G-T c.5170G>T p.Glu1724* Nonsense 34/63 - 1
11-108172385-C-T c.5188C>T p.Arg1730* Nonsense 35/63 - 2
11-108172386-G-T c.5189G>T p.Arg1730Leu Missense 35/63 - 1
11-108172386-G-A c.5189G>A p.Arg1730Gln Missense 35/63 - 1
11-108172415-A-G c.5218A>G p.Ile1740Val Missense 35/63 - 1
11-108172422-C-T c.5225C>T p.Ala1742Val Missense 35/63 - 1
11-108172425-C-T c.5228C>T p.Thr1743Ile Missense 35/63 - 3
11-108172426-A-G c.5229A>G p.Thr1743Thr Synonymous 35/63 - 1
11-108172447-G-A c.5250G>A p.Trp1750* Nonsense 35/63 - 1
11-108172446-G-A c.5249G>A p.Trp1750* Nonsense 35/63 - 1
11-108172463-A-G c.5266A>G p.Thr1756Ala Missense 35/63 - 1
11-108172463-A-T c.5266A>T p.Thr1756Ser Missense 35/63 - 1
11-108172464-C-T c.5267C>T p.Thr1756Ile Missense 35/63 - 1
11-108172468-A-AT c.5271_5272insT p.Asp1758* Nonsense 35/63 - 1
11-108172485-A-AGA c.5288_5289insGA p.Tyr1763* Nonsense 35/63 - 1
11-108172499-AG-CT c.5302_5303inv p.Arg1768Leu Missense 35/63 - 1
11-108172507-A-AT c.5310_5311insT p.Arg1771* Nonsense 35/63 - 1
11-108173631-G-A c.5371G>A p.Asp1791Asn Missense 36/63 - 1
11-108173661-A-T c.5401A>T p.Asn1801Tyr Missense 36/63 - 1
11-108173661-A-G c.5401A>G p.Asn1801Asp Missense 36/63 - 1
11-108173674-G-A c.5414G>A p.Trp1805* Nonsense 36/63 - 1
11-108173675-G-A c.5415G>A p.Trp1805* Nonsense 36/63 - 1
11-108173695-C-T c.5435C>T p.Ala1812Val Missense 36/63 - 1
11-108173701-TT-T c.5441del p.Leu1814Trpfs*14 Frameshift 36/63 - 3
11-108173702-G-C c.5442G>C p.Leu1814Phe Missense 36/63 - 1
11-108173702-G-T c.5442G>T p.Leu1814Phe Missense 36/63 - 1
11-108173724-G-C c.5464G>C p.Glu1822Gln Missense 36/63 - 1
11-108173730-C-T c.5470C>T p.Leu1824Phe Missense 36/63 - 1
11-108173731-T-C c.5471T>C p.Leu1824Pro Missense 36/63 - 1
11-108173731-T-G c.5471T>G p.Leu1824Arg Missense 36/63 - 1
11-108173748-A-G c.5488A>G p.Met1830Val Missense 36/63 - 1
11-108173758-T-C c.5496+2T>C - IntronicSNV - 36/62 1
11-108175110-T-C c.5497-292T>C - IntronicSNV - 36/62 1
11-108175387-G-T c.5497-15G>T - IntronicSNV - 36/62 1
11-108175387-G-C c.5497-15G>C - IntronicSNV - 36/62 2
11-108175394-T-C c.5497-8T>C - IntronicSNV - 36/62 5
11-108175398-C-G c.5497-4C>G - IntronicSNV - 36/62 1
11-108175400-A-C c.5497-2A>C - IntronicSNV - 36/62 1
11-108175401-G-C c.5497-1G>C - IntronicSNV - 36/62 1
11-108175406-A-G c.5501A>G p.Lys1834Arg Missense 37/63 - 1
11-108175414-T-G c.5509T>G p.Phe1837Val Missense 37/63 - 1
11-108175416-TTT-T c.5511_5512del p.Phe1837Leufs*11 Frameshift 37/63 - 1
11-108175420-C-T c.5515C>T p.Gln1839* Nonsense 37/63 - 1
11-108175433-CC-C c.5528del p.Pro1843Hisfs*3 Frameshift 37/63 - 1
11-108175454-TT-T c.5549del p.Leu1850Tyrfs*67 Frameshift 37/63 - 2
11-108175459-C-T c.5554C>T p.Gln1852* Nonsense 37/63 - 1
11-108175462-GAT-CAA c.5557_5559delinsCAA p.Asp1853Gln Missense 37/63 - 2
11-108175462-G-A c.5557G>A p.Asp1853Asn Missense 37/63 - 142
11-108175463-A-T c.5558A>T p.Asp1853Val Missense 37/63 - 24
11-108175471-G-C c.5566G>C p.Glu1856Gln Missense 37/63 - 1
11-108175478-G-A c.5573G>A p.Trp1858* Nonsense 37/63 - 2
11-108175490-T-A c.5585T>A p.Leu1862His Missense 37/63 - 2
11-108175504-C-T c.5599C>T p.Gln1867* Nonsense 37/63 - 1
11-108175505-A-C c.5600A>C p.Gln1867Pro Missense 37/63 - 1
11-108175528-C-T c.5623C>T p.Arg1875* Nonsense 37/63 - 7
11-108175537-TCG-GAC c.5632_5634delinsGAC p.Ser1878Asp Missense 37/63 - 1
11-108175538-C-T c.5633C>T p.Ser1878Leu Missense 37/63 - 1
11-108175549-C-T c.5644C>T p.Arg1882* Nonsense 37/63 - 5
11-108175555-CACAACCCC-C c.5650_5657del p.Thr1884Cysfs*17 Frameshift 37/63 - 1
11-108175565-C-T c.5660C>T p.Ala1887Val Missense 37/63 - 1
11-108175576-T-G c.5671T>G p.Ser1891Ala Missense 37/63 - 1
11-108175580-G-T c.5674+1G>T - IntronicSNV - 37/62 1
11-108177097-T-A c.5674+1518T>A - IntronicSNV - 37/62 5
11-108177097-T-C c.5674+1518T>C - IntronicSNV - 37/62 5
11-108177538-C-T c.5675-1086C>T - IntronicSNV - 37/62 1
11-108178624-GAGTCAGAGCACTTTTTCCGATGCTGTTTGGATAAAAAATCACAAAGAACAATGCTTGCT-G c.5675_5733del p.Glu1892Glyfs*18 Unclassified 38/63 - 1
11-108178626-T-C c.5677T>C p.Ser1893Pro Missense 38/63 - 1
11-108178626-TC-GA c.5677_5678inv p.Ser1893Glu Missense 38/63 - 1
11-108178626-T-G c.5677T>G p.Ser1893Ala Missense 38/63 - 5
11-108178641-C-T c.5692C>T p.Arg1898* Nonsense 38/63 - 3
11-108178642-G-A c.5693G>A p.Arg1898Gln Missense 38/63 - 1
11-108178646-C-CA c.5697_5698insA p.Cys1900Metfs*4 Frameshift 38/63 - 1
11-108178646-C-A c.5697C>A p.Cys1899* Nonsense 38/63 - 1
11-108178647-TG-AC c.5698_5699delinsAC p.Cys1900Thr Missense 38/63 - 1
11-108178652-G-GT c.5703_5704insT p.Asp1902* Nonsense 38/63 - 1
11-108178653-GGA-G c.5704_5705del p.Asp1902* Frameshift 38/63 - 1
11-108178661-A-AA c.5712dup p.Ser1905Ilefs*25 Frameshift 38/63 - 5
11-108178663-C-A c.5714C>A p.Ser1905* Nonsense 38/63 - 1
11-108178663-C-G c.5714C>G p.Ser1905* Nonsense 38/63 - 1
11-108178665-C-T c.5716C>T p.Gln1906* Nonsense 38/63 - 1
11-108178690-A-G c.5741A>G p.Asp1914Gly Missense 38/63 - 1
11-108178699-G-A c.5750G>A p.Arg1917Lys Missense 38/63 - 1
11-108178699-G-C c.5750G>C p.Arg1917Thr Missense 38/63 - 2
11-108178705-A-C c.5756A>C p.Gln1919Pro Missense 38/63 - 6
11-108178712-G-C c.5762+1G>C - IntronicSNV - 38/62 1
11-108178738-G-A c.5762+27G>A - IntronicSNV - 38/62 1
11-108179837-A-G c.5763-1050A>G - IntronicSNV - 38/62 3
11-108180887-A-AT c.5763_5764insT p.Pro1922Serfs*8 SpliceAcceptorInsertion 39/63 - 1
11-108180887-A-AA c.5763dup p.Pro1922Thrfs*8 SpliceAcceptorInsertion 39/63 - 1
11-108180887-A-AG c.5763_5764insG p.Pro1922Alafs*8 SpliceAcceptorInsertion 39/63 - 1
11-108180895-C-A c.5771C>A p.Ser1924* Nonsense 39/63 - 1
11-108180895-C-G c.5771C>G p.Ser1924* Nonsense 39/63 - 1
11-108180898-GG-G c.5774del p.Gly1925Glufs*12 Frameshift 39/63 - 1
11-108180908-TT-T c.5784del p.Phe1928Leufs*9 Frameshift 39/63 - 1
11-108180917-T-G c.5793T>G p.Ala1931Ala Synonymous 39/63 - 7
11-108180917-T-C c.5793T>C p.Ala1931Ala Synonymous 39/63 - 8
11-108180932-A-T c.5808A>T p.Leu1936Phe Missense 39/63 - 1
11-108180939-C-G c.5815C>G p.Leu1939Val Missense 39/63 - 1
11-108180942-G-T c.5818G>T p.Glu1940* Nonsense 39/63 - 1
11-108180945-G-C c.5821G>C p.Val1941Leu Missense 39/63 - 1
11-108180949-C-T c.5825C>T p.Ala1942Val Missense 39/63 - 1
11-108180954-G-A c.5830G>A p.Val1944Ile Missense 39/63 - 1
11-108180958-GCTCAGTCTTGTGCTGCTCACT-G c.5834_5854del p.Ala1945_Phe1952delinsVal MultiAAMissense 39/63 - 1
11-108180964-C-T c.5840C>T p.Ser1947Phe Missense 39/63 - 1
11-108180982-C-T c.5858C>T p.Thr1953Ile Missense 39/63 - 1
11-108181011-G-A c.5887G>A p.Asp1963Asn Missense 39/63 - 1
11-108181032-C-T c.5908C>T p.Gln1970* Nonsense 39/63 - 4
11-108181035-G-A c.5911G>A p.Glu1971Lys Missense 39/63 - 1
11-108181036-A-G c.5912A>G p.Glu1971Gly Missense 39/63 - 1
11-108181079-T-C c.5918+37T>C - IntronicSNV - 39/62 1
11-108181511-A-T c.5918+469A>T - IntronicSNV - 39/62 1
11-108181511-A-C c.5918+469A>C - IntronicSNV - 39/62 1
11-108182069-G-A c.5918+1027G>A - IntronicSNV - 39/62 1
11-108183089-C-T c.5919-49C>T - IntronicSNV - 39/62 1
11-108183151-G-T c.5932G>T p.Glu1978* Nonsense 40/63 - 29
11-108183152-A-T c.5933A>T p.Glu1978Val Missense 40/63 - 1
11-108183160-AG-CC c.5941_5942delinsCC p.Ser1981Pro Missense 40/63 - 43
11-108183160-AG-GA c.5941_5942delinsGA p.Ser1981Asp Missense 40/63 - 1
11-108183160-AG-GC c.5941_5942delinsGC p.Ser1981Ala Missense 40/63 - 25
11-108183160-AGC-GAG c.5941_5943delinsGAG p.Ser1981Glu Missense 40/63 - 1
11-108183162-C-T c.5943C>T p.Ser1981Ser Synonymous 40/63 - 1
11-108183167-A-G c.5948A>G p.Ser1983Ser Missense 40/63 - 4
11-108183172-A-G c.5953A>G p.Thr1985Ala Missense 40/63 - 1
11-108183172-ACT-GAG c.5953_5955delinsGAG p.Thr1985Glu Missense 40/63 - 1
11-108183173-C-T c.5954C>T p.Thr1985Ile Missense 40/63 - 1
11-108183175-A-G c.5956A>G p.Ile1986Val Missense 40/63 - 1
11-108183178-T-C c.5959T>C p.Ser1987Pro Missense 40/63 - 5
11-108183178-T-G c.5959T>G p.Ser1987Ala Missense 40/63 - 11
11-108183178-TC-GA c.5959_5960inv p.Ser1987Asp Missense 40/63 - 1
11-108183181-AG-GA c.5962_5963delinsGA p.Ser1988Asp Missense 40/63 - 1
11-108183181-AG-GC c.5962_5963delinsGC p.Ser1988Ala Missense 40/63 - 1
11-108183191-A-G c.5972A>G p.Glu1991Gly Missense 40/63 - 1
11-108183194-A-C c.5975A>C p.Lys1992Thr Missense 40/63 - 1
11-108183198-GTAAAG-G c.5979_5983del p.Ser1993Argfs*23 Frameshift 40/63 - 2
11-108183223-C-T c.6004C>T p.Gln2002* Nonsense 40/63 - 1
11-108185949-A-G c.6007-601A>G - IntronicSNV - 40/62 1
11-108186548-A-T c.6007-2A>T - IntronicSNV - 40/62 1
11-108186555-T-TA c.6012_6013insA p.Leu2005Thrfs*13 Frameshift 41/63 - 1
11-108186556-C-G c.6013C>G p.Leu2005Val Missense 41/63 - 1
11-108186582-G-A c.6039G>A p.Gly2013Gly Synonymous 41/63 - 1
11-108186583-G-T c.6040G>T p.Glu2014* Nonsense 41/63 - 1
11-108186583-G-A c.6040G>A p.Glu2014Lys Missense 41/63 - 1
11-108186590-A-G c.6047A>G p.Asp2016Gly Missense 41/63 - 3
11-108186593-G-T c.6050G>T p.Ser2017Ile Missense 41/63 - 1
11-108186610-G-A c.6067G>A p.Gly2023Arg Missense 41/63 - 12
11-108186613-G-C c.6070G>C p.Gly2024Arg Missense 41/63 - 1
11-108186613-G-A c.6070G>A p.Gly2024Arg Missense 41/63 - 1
11-108186617-A-G c.6074A>G p.Lys2025Arg Missense 41/63 - 1
11-108186626-A-G c.6083A>G p.Gln2028Arg Missense 41/63 - 1
11-108186631-A-G c.6088A>G p.Ile2030Val Missense 41/63 - 1
11-108186638-G-A c.6095G>A p.Arg2032Lys Missense 41/63 - 9
11-108186742-C-T c.6100C>T p.Arg2034* Nonsense 42/63 - 1
11-108186743-G-A c.6101G>A p.Arg2034Gln Missense 42/63 - 1
11-108186754-C-G c.6112C>G p.His2038Asp Missense 42/63 - 1
11-108186757-G-T c.6115G>T p.Glu2039* Nonsense 42/63 - 1
11-108186757-G-A c.6115G>A p.Glu2039Lys Missense 42/63 - 3
11-108186787-T-G c.6145T>G p.Tyr2049Asp Missense 42/63 - 3
11-108186796-G-A c.6154G>A p.Glu2052Lys Missense 42/63 - 4
11-108186821-G-A c.6179G>A p.Arg2060His Missense 42/63 - 2
11-108186824-A-G c.6182A>G p.Gln2061Arg Missense 42/63 - 1
11-108186830-G-A c.6188G>A p.Gly2063Glu Missense 42/63 - 2
11-108186843-A-G c.6198+3A>G - IntronicSNV - 42/62 1
11-108186956-T-C c.6198+116T>C - IntronicSNV - 42/62 1
11-108187689-G-A c.6199-411G>A - IntronicSNV - 42/62 2
11-108188039-C-G c.6199-61C>G - IntronicSNV - 42/62 1
11-108188101-C-A c.6200C>A p.Ala2067Asp Missense 43/63 - 5
11-108188106-C-T c.6205C>T p.Gln2069* Nonsense 43/63 - 1
11-108188126-T-TTA c.6225_6226insTA p.Ile2076* Nonsense 43/63 - 1
11-108188128-T-G c.6227T>G p.Ile2076Ser Missense 43/63 - 1
11-108188129-TT-T c.6228del p.Leu2077Phefs*5 Frameshift 43/63 - 2
11-108188136-G-A c.6235G>A p.Val2079Ile Missense 43/63 - 1
11-108188160-TG-T c.6259del p.Glu2087Lysfs*9 Frameshift 43/63 - 1
11-108188213-G-A c.6312G>A p.Trp2104* Nonsense 43/63 - 1
11-108188223-C-T c.6322C>T p.Gln2108* Nonsense 43/63 - 1
11-108188226-T-G c.6325T>G p.Trp2109Gly Missense 43/63 - 1
11-108188227-G-A c.6326G>A p.Trp2109* Nonsense 43/63 - 2
11-108188233-A-G c.6332A>G p.His2111Arg Missense 43/63 - 1
11-108188238-A-C c.6337A>C p.Thr2113Pro Missense 43/63 - 1
11-108188244-G-A c.6343G>A p.Val2115Ile Missense 43/63 - 1
11-108190627-T-C c.6348-54T>C - IntronicSNV - 43/62 4
11-108190682-AA-GC c.6349_6350delinsGC p.Lys2117Ala Missense 44/63 - 1
11-108190707-A-G c.6374A>G p.His2125Arg Missense 44/63 - 1
11-108190737-T-TTT c.6404_6405insTT p.Arg2136* Nonsense 44/63 - 3
11-108190745-A-AA c.6412dup p.Arg2138Lysfs*8 Frameshift 44/63 - 1
11-108190748-AGA-A c.6415_6416del p.Glu2139Ilefs*6 Frameshift 44/63 - 1
11-108190785-G-C c.6452G>C p.Arg2151Thr Missense 44/63 - 1
11-108192057-G-A c.6482G>A p.Arg2161His Missense 45/63 - 1
11-108192065-G-A c.6490G>A p.Glu2164Lys Missense 45/63 - 1
11-108192066-A-G c.6491A>G p.Glu2164Gly Missense 45/63 - 1
11-108192069-C-T c.6494C>T p.Ser2165Phe Missense 45/63 - 1
11-108192088-C-G c.6513C>G p.Pro2171Pro Synonymous 45/63 - 1
11-108192114-G-T c.6539G>T p.Gly2180Val Missense 45/63 - 1
11-108192118-G-T c.6543G>T p.Glu2181Asp Missense 45/63 - 2
11-108194024-A-G c.6572+1877A>G - IntronicSNV - 45/62 2
11-108194557-C-T c.6573-1480C>T - IntronicSNV - 45/62 1
11-108195779-A-C c.6573-258A>C - IntronicSNV - 45/62 4
11-108195972-C-G c.6573-65C>G - IntronicSNV - 45/62 1
11-108196037-GATCAGTCACACATAGACAACTCTCTGAAGTATATATTAAGTGGCAGAAACACTCCCAGC-G c.6573_6631del p.Arg2191Serfs*6 SpliceAcceptorDeletion 46/63 - 1
11-108196107-AG-TA c.6643_6644delinsTA p.Ser2215Tyr Missense 46/63 - 3
11-108196107-AG-TT c.6643_6644delinsTT p.Ser2215Phe Missense 46/63 - 1
11-108196122-C-T c.6658C>T p.Gln2220* Nonsense 46/63 - 1
11-108196125-G-A c.6661G>A p.Glu2221Lys Missense 46/63 - 1
11-108196143-C-T c.6679C>T p.Arg2227Cys Missense 46/63 - 6
11-108196144-G-A c.6680G>A p.Arg2227His Missense 46/63 - 1
11-108196222-A-C c.6758A>C p.Lys2253Thr Missense 46/63 - 1
11-108196230-G-T c.6766G>T p.Val2256Leu Missense 46/63 - 1
11-108196230-G-C c.6766G>C p.Val2256Leu Missense 46/63 - 1
11-108196254-AC-TG c.6790_6791delinsTG p.Thr2264Cys Missense 46/63 - 1
11-108196264-A-T c.6800A>T p.Asn2267Ile Missense 46/63 - 1
11-108196509-G-C c.6807+238G>C - IntronicSNV - 46/62 11
11-108196509-G-T c.6807+238G>T - IntronicSNV - 46/62 11
11-108196543-TTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACA-T c.6808-242_6808-184del - Unclassified - 46/62 1
11-108196794-AA-A c.6817del p.Arg2273Glyfs*37 Frameshift 47/63 - 1
11-108196797-G-A c.6820G>A p.Ala2274Thr Missense 47/63 - 7
11-108196816-CA-C c.6839del p.Gln2280Argfs*30 Frameshift 47/63 - 1
11-108196837-G-C c.6860G>C p.Gly2287Ala Missense 47/63 - 3
11-108196838-A-ATA c.6861_6862insTA p.Val2288* Nonsense 47/63 - 1
11-108196839-AGTCTC-A c.6862_6866del p.Val2288* Frameshift 47/63 - 1
11-108196846-A-C c.6869A>C p.Glu2290Ala Missense 47/63 - 1
11-108196878-G-A c.6901G>A p.Ala2301Thr Missense 47/63 - 1
11-108196885-A-G c.6908A>G p.Lys2303Arg Missense 47/63 - 1
11-108196885-A-AA c.6908dup p.Glu2304Glyfs*69 Frameshift 47/63 - 2
11-108196893-GAG-G c.6916_6917del p.Leu2307Cysfs*65 Frameshift 47/63 - 1
11-108196896-C-T c.6919C>T p.Leu2307Phe Missense 47/63 - 9
11-108196896-C-G c.6919C>G p.Leu2307Val Missense 47/63 - 2
11-108196900-C-T c.6923C>T p.Ala2308Val Missense 47/63 - 1
11-108196912-T-C c.6935T>C p.Leu2312Pro Missense 47/63 - 1
11-108196929-A-C c.6952A>C p.Lys2318Gln Missense 47/63 - 1
11-108196948-C-G c.6971C>G p.Ala2324Gly Missense 47/63 - 1
11-108198371-G-T c.6976-1G>T - IntronicSNV - 47/62 1
11-108198391-T-C c.6995T>C p.Leu2332Pro Missense 48/63 - 2
11-108198393-A-AA c.6997dup p.Thr2333Asnfs*40 Frameshift 48/63 - 3
11-108198396-ATACA-A c.7000_7003del p.Tyr2334Glnfs*4 Frameshift 48/63 - 2
11-108198400-C-T c.7004C>T p.Thr2335Ile Missense 48/63 - 1
11-108198406-TGT-T c.7010_7011del p.Cys2337Serfs*35 Frameshift 48/63 - 2
11-108198420-G-A c.7024G>A p.Gly2342Ser Missense 48/63 - 1
11-108198440-G-A c.7044G>A p.Thr2348Thr Synonymous 48/63 - 1
11-108198448-A-C c.7052A>C p.Glu2351Ala Missense 48/63 - 1
11-108198468-C-T c.7072C>T p.Gln2358* Nonsense 48/63 - 1
11-108198478-T-C c.7082T>C p.Leu2361Pro Missense 48/63 - 2
11-108198484-A-G c.7088A>G p.Lys2363Arg Missense 48/63 - 1
11-108199746-A-C c.7090-2A>C - IntronicSNV - 48/62 1
11-108199747-G-A c.7090-1G>A - IntronicSNV - 48/62 1
11-108199749-GC-G c.7091del p.Ala2364Glufs*2 Frameshift 49/63 - 1
11-108199754-G-T c.7096G>T p.Glu2366* Nonsense 49/63 - 1
11-108199760-G-A c.7102G>A p.Ala2368Thr Missense 49/63 - 1
11-108199824-C-G c.7166C>G p.Ser2389* Nonsense 49/63 - 1
11-108199835-T-G c.7177T>G p.Phe2393Val Missense 49/63 - 1
11-108199838-T-TT c.7180dup p.Ser2394Phefs*9 Frameshift 49/63 - 2
11-108199839-C-T c.7181C>T p.Ser2394Leu Missense 49/63 - 1
11-108199842-A-T c.7184A>T p.Asp2395Val Missense 49/63 - 1
11-108199845-C-G c.7187C>G p.Thr2396Ser Missense 49/63 - 1
11-108199871-A-T c.7213A>T p.Met2405Leu Missense 49/63 - 1
11-108199881-C-T c.7223C>T p.Ser2408Leu Missense 49/63 - 2
11-108199886-T-C c.7228T>C p.Phe2410Leu Missense 49/63 - 2
11-108199895-A-C c.7237A>C p.Lys2413Gln Missense 49/63 - 1
11-108199898-C-T c.7240C>T p.Gln2414* Nonsense 49/63 - 1
11-108199925-G-A c.7267G>A p.Glu2423Lys Missense 49/63 - 1
11-108199925-GA-CT c.7267_7268delinsCT p.Glu2423Leu Missense 49/63 - 1
11-108199926-A-G c.7268A>G p.Glu2423Gly Missense 49/63 - 2
11-108199929-T-G c.7271T>G p.Val2424Gly Missense 49/63 - 59
11-108199929-T-A c.7271T>A p.Val2424Glu Missense 49/63 - 1
11-108199932-G-A c.7274G>A p.Gly2425Asp Missense 49/63 - 1
11-108199934-C-A c.7276C>A p.Leu2426Ile Missense 49/63 - 1
11-108199938-T-C c.7280T>C p.Leu2427Pro Missense 49/63 - 1
11-108199938-T-G c.7280T>G p.Leu2427Arg Missense 49/63 - 1
11-108199951-A-T c.7293A>T p.Lys2431Asn Missense 49/63 - 1
11-108199951-A-C c.7293A>C p.Lys2431Asn Missense 49/63 - 1
11-108199962-A-T c.7304A>T p.Asn2435Ile Missense 49/63 - 1
11-108200935-T-G c.7308-6T>G - IntronicSNV - 49/62 1
11-108200943-A-G c.7310A>G p.Tyr2437Cys Missense 50/63 - 1
11-108200946-C-T c.7313C>T p.Thr2438Ile Missense 50/63 - 1
11-108200952-A-G c.7319A>G p.Lys2440Arg Missense 50/63 - 1
11-108200955-T-G c.7322T>G p.Val2441Gly Missense 50/63 - 1
11-108200958-A-C c.7325A>C p.Gln2442Pro Missense 50/63 - 2
11-108200960-C-G c.7327C>G p.Arg2443Gly Missense 50/63 - 1
11-108200960-C-T c.7327C>T p.Arg2443* Nonsense 50/63 - 5
11-108200961-G-A c.7328G>A p.Arg2443Gln Missense 50/63 - 7
11-108200961-G-GT c.7328_7329insT p.Glu2444Argfs*6 Frameshift 50/63 - 1
11-108200963-G-A c.7330G>A p.Glu2444Lys Missense 50/63 - 2
11-108200965-AGC-A c.7332_7333del p.Glu2444Aspfs*5 Frameshift 50/63 - 1
11-108200967-T-C c.7334T>C p.Leu2445Pro Missense 50/63 - 1
11-108200973-T-C c.7340T>C p.Leu2447Ser Missense 50/63 - 1
11-108200975-G-A c.7342G>A p.Asp2448Asn Missense 50/63 - 2
11-108200976-A-T c.7343A>T p.Asp2448Val Missense 50/63 - 1
11-108200978-G-T c.7345G>T p.Glu2449* Nonsense 50/63 - 1
11-108200990-C-T c.7357C>T p.Arg2453Cys Missense 50/63 - 1
11-108200991-G-C c.7358G>C p.Arg2453Pro Missense 50/63 - 1
11-108201007-T-TA c.7374_7375insA p.Arg2459Thrfs*2 Frameshift 50/63 - 1
11-108201008-C-T c.7375C>T p.Arg2459Cys Missense 50/63 - 1
11-108201008-C-G c.7375C>G p.Arg2459Gly Missense 50/63 - 2
11-108201014-C-T c.7381C>T p.Arg2461Cys Missense 50/63 - 2
11-108201015-G-C c.7382G>C p.Arg2461Pro Missense 50/63 - 1
11-108201023-T-C c.7390T>C p.Cys2464Arg Missense 50/63 - 4
11-108201026-A-G c.7393A>G p.Lys2465Glu Missense 50/63 - 1
11-108201035-G-A c.7402G>A p.Glu2468Lys Missense 50/63 - 1
11-108201062-G-A c.7429G>A p.Gly2477Arg Missense 50/63 - 1
11-108201072-A-C c.7439A>C p.His2480Pro Missense 50/63 - 1
11-108201079-G-C c.7446G>C p.Met2482Ile Missense 50/63 - 1
11-108201079-G-A c.7446G>A p.Met2482Ile Missense 50/63 - 1
11-108201079-G-T c.7446G>T p.Met2482Ile Missense 50/63 - 1
11-108201082-G-A c.7449G>A p.Trp2483* Nonsense 50/63 - 1
11-108201089-C-G c.7456C>G p.Arg2486Gly Missense 50/63 - 1
11-108201089-C-T c.7456C>T p.Arg2486* Nonsense 50/63 - 1
11-108201090-G-C c.7457G>C p.Arg2486Pro Missense 50/63 - 2
11-108201101-C-T c.7468C>T p.Leu2490Phe Missense 50/63 - 1
11-108201108-T-G c.7475T>G p.Leu2492Arg Missense 50/63 - 1
11-108201144-TG-GC c.7511_7512delinsGC p.Met2504Ser Missense 50/63 - 2
11-108202172-AGAGA-A c.7517_7520del p.Arg2506Thrfs*3 SpliceAcceptorDeletion 51/63 - 2
11-108202189-C-T c.7534C>T p.Pro2512Ser Missense 51/63 - 1
11-108202207-C-T c.7552C>T p.Pro2518Ser Missense 51/63 - 1
11-108202210-C-G c.7555C>G p.Leu2519Val Missense 51/63 - 1
11-108202225-G-C c.7570G>C p.Ala2524Pro Missense 51/63 - 4
11-108202261-G-T c.7606G>T p.Gly2536* Nonsense 51/63 - 1
11-108202261-G-A c.7606G>A p.Gly2536Arg Missense 51/63 - 1
11-108202273-G-A c.7618G>A p.Val2540Ile Missense 51/63 - 2
11-108202273-G-C c.7618G>C p.Val2540Leu Missense 51/63 - 1
11-108202277-T-C c.7622T>C p.Leu2541Pro Missense 51/63 - 1
11-108202604-A-G c.7630-2A>G - IntronicSNV - 51/62 1
11-108202604-A-C c.7630-2A>C - IntronicSNV - 51/62 10
11-108202614-CTAGAATTTC-C c.7638_7646del p.Arg2547_Ser2549del InFrameDeletion 52/63 - 5
11-108202641-C-A c.7665C>A p.His2555Gln Missense 52/63 - 1
11-108202641-C-G c.7665C>G p.His2555Gln Missense 52/63 - 1
11-108202647-TGTTT-T c.7671_7674del p.Phe2558Leufs*5 Frameshift 52/63 - 1
11-108202681-AG-A c.7705del p.Asp2569Metfs*4 Frameshift 52/63 - 1
11-108202681-GAT-TAA c.7705_7707delinsTAA p.Asp2569* Nonsense 52/63 - 1
11-108202681-AGA-A c.7705_7706del p.Asp2569* Frameshift 52/63 - 1
11-108202685-A-G c.7709A>G p.Glu2570Gly Missense 52/63 - 1
11-108202687-T-TA c.7711_7712insA p.Phe2571Tyrfs*4 Frameshift 52/63 - 1
11-108202711-AG-GC c.7735_7736delinsGC p.Arg2579Ala Missense 52/63 - 2
11-108202716-A-C c.7740A>C p.Arg2580Ser Missense 52/63 - 3
11-108202718-G-T c.7742G>T p.Ser2581Ile Missense 52/63 - 1
11-108202751-C-G c.7775C>G p.Ser2592Cys Missense 52/63 - 3
11-108202753-C-T c.7777C>T p.Gln2593* Nonsense 52/63 - 2
11-108202764-G-A c.7788G>A p.Glu2596Glu Synonymous 52/63 - 2
11-108203492-C-T c.7792C>T p.Arg2598* Nonsense 53/63 - 2
11-108203518-A-G c.7818A>G p.Ile2606Met Missense 53/63 - 1
11-108203531-AAGTAG-A c.7831_7835del p.Ser2611Glufs*9 Frameshift 53/63 - 1
11-108203561-GA-CT c.7861_7862delinsCT p.Glu2621Leu Missense 53/63 - 1
11-108203565-C-T c.7865C>T p.Ala2622Val Missense 53/63 - 3
11-108203573-GAT-CAA c.7873_7875delinsCAA p.Asp2625Gln Missense 53/63 - 1
11-108203574-A-G c.7874A>G p.Asp2625Gly Missense 53/63 - 1
11-108203575-TG-GC c.7875_7876delinsGC p.Asp2625_Ala2626delinsGluPro MultiAAMissense 53/63 - 2
11-108203575-T-A c.7875T>A p.Asp2625Glu Missense 53/63 - 4
11-108203575-T-G c.7875T>G p.Asp2625Glu Missense 53/63 - 4
11-108203576-G-C c.7876G>C p.Ala2626Pro Missense 53/63 - 2
11-108203576-GCT-GAGCCT c.7876_7877insAGC p.Ala2626delinsGluPro MultiAAMissense 53/63 - 1
11-108203577-C-T c.7877C>T p.Ala2626Val Missense 53/63 - 1
11-108203586-ATATTA-A c.7886_7890del p.Ile2629Serfs*25 Frameshift 53/63 - 4
11-108203613-G-A c.7913G>A p.Trp2638* Nonsense 53/63 - 6
11-108203619-C-T c.7919C>T p.Thr2640Ile Missense 53/63 - 2
11-108203619-AC-A c.7919del p.Thr2640Ilefs*6 Frameshift 53/63 - 1
11-108204611-A-C c.7928-2A>C - IntronicSNV - 53/62 1
11-108204636-C-T c.7951C>T p.Gln2651* Nonsense 54/63 - 1
11-108204652-T-C c.7967T>C p.Leu2656Pro Missense 54/63 - 1
11-108204661-T-C c.7976T>C p.Leu2659Ser Missense 54/63 - 1
11-108204670-T-A c.7985T>A p.Val2662Asp Missense 54/63 - 2
11-108204673-T-C c.7988T>C p.Val2663Ala Missense 54/63 - 1
11-108204674-TTGT-T c.7989_7991del p.Val2664del InFrameDeletion 54/63 - 1
11-108204681-A-G c.7996A>G p.Thr2666Ala Missense 54/63 - 1
11-108204682-C-T c.7997C>T p.Thr2666Ile Missense 54/63 - 1
11-108204685-T-C c.8000T>C p.Met2667Thr Missense 54/63 - 1
11-108204881-C-T c.8010+186C>T - IntronicSNV - 54/62 8
11-108205329-A-G c.8011-367A>G - IntronicSNV - 54/62 3
11-108205383-G-A c.8011-313G>A - IntronicSNV - 54/62 3
11-108205708-GG-AC c.8023_8024delinsAC p.Gly2675Thr Missense 55/63 - 1
11-108205715-A-G c.8030A>G p.Tyr2677Cys Missense 55/63 - 3
11-108205734-A-AA c.8049dup p.Gln2684Thrfs*4 Frameshift 55/63 - 1
11-108205756-C-T c.8071C>T p.Arg2691Cys Missense 55/63 - 7
11-108205757-G-A c.8072G>A p.Arg2691His Missense 55/63 - 1
11-108205763-GCAG-G c.8078_8080del p.Ala2693del InFrameDeletion 55/63 - 1
11-108205768-G-A c.8083G>A p.Gly2695Ser Missense 55/63 - 2
11-108205769-G-T c.8084G>T p.Gly2695Val Missense 55/63 - 1
11-108205771-G-T c.8086G>T p.Val2696Leu Missense 55/63 - 1
11-108205771-G-C c.8086G>C p.Val2696Leu Missense 55/63 - 1
11-108205774-A-G c.8089A>G p.Asn2697Asp Missense 55/63 - 1
11-108205780-C-T c.8095C>T p.Pro2699Ser Missense 55/63 - 2
11-108205795-T-G c.8110T>G p.Cys2704Gly Missense 55/63 - 1
11-108205802-G-C c.8117G>C p.Gly2706Ala Missense 55/63 - 1
11-108205807-G-A c.8122G>A p.Asp2708Asn Missense 55/63 - 6
11-108205807-GAT-CAA c.8122_8124delinsCAA p.Asp2708Gln Missense 55/63 - 1
11-108205809-T-A c.8124T>A p.Asp2708Glu Missense 55/63 - 2
11-108205825-C-T c.8140C>T p.Gln2714* Nonsense 55/63 - 2
11-108205832-T-C c.8147T>C p.Val2716Ala Missense 55/63 - 13
11-108206575-C-T c.8155C>T p.Arg2719Cys Missense 56/63 - 1
11-108206578-G-C c.8158G>C p.Asp2720His Missense 56/63 - 2
11-108206579-A-G c.8159A>G p.Asp2720Gly Missense 56/63 - 1
11-108206580-ATGA-A c.8160_8162del p.Asp2721del InFrameDeletion 56/63 - 1
11-108206581-G-A c.8161G>A p.Asp2721Asn Missense 56/63 - 2
11-108206593-G-C c.8173G>C p.Asp2725His Missense 56/63 - 1
11-108206594-A-T c.8174A>T p.Asp2725Val Missense 56/63 - 1
11-108206595-T-A c.8175T>A p.Asp2725Glu Missense 56/63 - 3
11-108206600-T-G c.8180T>G p.Val2727Gly Missense 56/63 - 1
11-108206607-A-T c.8187A>T p.Gln2729His Missense 56/63 - 2
11-108206609-A-C c.8189A>C p.Gln2730Pro Missense 56/63 - 2
11-108206616-C-A c.8196C>A p.Phe2732Leu Missense 56/63 - 1
11-108206617-C-A c.8197C>A p.Gln2733Lys Missense 56/63 - 1
11-108206618-A-C c.8198A>C p.Gln2733Pro Missense 56/63 - 1
11-108206633-T-A c.8213T>A p.Leu2738* Nonsense 56/63 - 1
11-108206633-T-G c.8213T>G p.Leu2738* Nonsense 56/63 - 1
11-108206639-A-C c.8219A>C p.Gln2740Pro Missense 56/63 - 2
11-108206648-C-T c.8228C>T p.Thr2743Met Missense 56/63 - 1
11-108206666-A-T c.8246A>T p.Lys2749Ile Missense 56/63 - 3
11-108206669-TTAACTATCTGTACTTATAAG-T c.8249_8268del p.Leu2750Cysfs*12 SpliceDonorDeletion 56/63 - 1
11-108206671-AACTA-A c.8251_8254del p.Thr2751Serfs*54 Frameshift 56/63 - 1
11-108206683-TA-GC c.8263_8264delinsGC p.Tyr2755Ala Missense 56/63 - 3
11-108206684-TATAAG-T c.8264_8268del p.Tyr2755Cysfs*12 SpliceDonorDeletion 56/63 - 3
11-108206684-A-AA c.8264dup p.Tyr2755* Nonsense 56/63 - 1
11-108206686-A-T c.8266A>T p.Lys2756* Nonsense 56/63 - 16
11-108210258-T-C c.8268+3570T>C - IntronicSNV - 56/62 3
11-108211412-T-G c.8269-2537T>G - IntronicSNV - 56/62 3
11-108212093-A-C c.8269-1856A>C - IntronicSNV - 56/62 2
11-108212093-A-T c.8269-1856A>T - IntronicSNV - 56/62 2
11-108213952-GGTTCCCCTCTCTCAGCGAAGTGGTGTTCTTGAATGGTGCACAGGAACTGTCCCCATTGG-G c.8272_8330del p.Val2758* InFrameDeletion 57/63 - 1
11-108213967-C-T c.8287C>T p.Arg2763* Nonsense 57/63 - 1
11-108213973-G-A c.8293G>A p.Gly2765Ser Missense 57/63 - 1
11-108213994-G-A c.8314G>A p.Gly2772Arg Missense 57/63 - 3
11-108213999-TGTCC-TGTCCTGTCC c.8319_8323dup p.Pro2775Leufs*33 Frameshift 57/63 - 1
11-108214023-TTA-T c.8343_8344del p.Asn2782Glnfs*2 Frameshift 57/63 - 1
11-108214062-T-TT c.8382dup p.Asp2795* Nonsense 57/63 - 1
11-108214067-TTCAGTGCCTTT-T c.8387_8397del p.Phe2796Serfs*15 Frameshift 57/63 - 1
11-108214073-C-A c.8393C>A p.Ala2798Asp Missense 57/63 - 1
11-108214075-CTTTCAGTGCC-C c.8395_8404del p.Phe2799Lysfs*4 Frameshift 57/63 - 1
11-108214078-C-T c.8398C>T p.Gln2800* Nonsense 57/63 - 1
11-108214082-G-A c.8402G>A p.Cys2801Tyr Missense 57/63 - 1
11-108214096-GATG-G c.8416_8418del p.Met2806del InFrameDeletion 57/63 - 1
11-108214098-G-T c.8418G>T p.Met2806Ile Missense 57/63 - 1
11-108214103-AGTGA-A c.8418+5_8418+8del - IntronicDeletion - 57/62 1
11-108215095-A-G c.8418+997A>G - IntronicSNV - 57/62 1
11-108215397-T-G c.8419-1073T>G - IntronicSNV - 57/62 3
11-108216478-A-AT c.8427_8428insT p.Lys2810* Nonsense 58/63 - 1
11-108216482-AAA-A c.8431_8432del p.Lys2811Valfs*3 Frameshift 58/63 - 1
11-108216483-A-AA c.8432dup p.Ser2812Valfs*3 Frameshift 58/63 - 1
11-108216483-AA-A c.8432del p.Lys2811Serfs*46 Frameshift 58/63 - 1
11-108216486-TCT-T c.8435_8436del p.Ser2812Phefs*2 Frameshift 58/63 - 1
11-108216530-T-A c.8479T>A p.Phe2827Ile Missense 58/63 - 1
11-108216540-T-G c.8489T>G p.Val2830Gly Missense 58/63 - 2
11-108216543-T-C c.8492T>C p.Phe2831Ser Missense 58/63 - 1
11-108216545-C-T c.8494C>T p.Arg2832Cys Missense 58/63 - 10
11-108216546-G-A c.8495G>A p.Arg2832His Missense 58/63 - 2
11-108216576-C-G c.8525C>G p.Pro2842Arg Missense 58/63 - 1
11-108216576-C-T c.8525C>T p.Pro2842Leu Missense 58/63 - 1
11-108216586-G-A c.8535G>A p.Trp2845* Nonsense 58/63 - 1
11-108216585-G-A c.8534G>A p.Trp2845* Nonsense 58/63 - 1
11-108216596-C-T c.8545C>T p.Arg2849* Nonsense 58/63 - 1
11-108216597-G-C c.8546G>C p.Arg2849Pro Missense 58/63 - 6
11-108216600-T-A c.8549T>A p.Leu2850* Nonsense 58/63 - 1
11-108216601-G-C c.8550G>C p.Leu2850Phe Missense 58/63 - 1
11-108216601-G-T c.8550G>T p.Leu2850Phe Missense 58/63 - 1
11-108216608-A-G c.8557A>G p.Thr2853Ala Missense 58/63 - 1
11-108216609-C-G c.8558C>G p.Thr2853Arg Missense 58/63 - 1
11-108216611-C-T c.8560C>T p.Arg2854Cys Missense 58/63 - 4
11-108216612-GC-AA c.8561_8562delinsAA p.Arg2854Gln Missense 58/63 - 1
11-108216616-T-G c.8565T>G p.Ser2855Arg Missense 58/63 - 2
11-108216616-TG-AA c.8565_8566delinsAA p.Ser2855_Val2856delinsArgIle MultiAAMissense 58/63 - 1
11-108216617-GTA-AGGATC c.8566_8568delinsAGGATC p.Val2856delinsArgIle MultiAAMissense 58/63 - 1
11-108216627-C-T c.8576C>T p.Ser2859Phe Missense 58/63 - 1
11-108216629-TTCT-T c.8578_8580del p.Ser2860del InFrameDeletion 58/63 - 1
11-108216636-G-A c.8584+1G>A - IntronicSNV - 58/62 1
11-108217049-T-G c.8584+414T>G - IntronicSNV - 58/62 1
11-108218004-A-C c.8585-2A>C - IntronicSNV - 58/62 2
11-108218009-G-T c.8588G>T p.Gly2863Val Missense 59/63 - 1
11-108218013-C-T c.8592C>T p.Tyr2864Tyr Synonymous 59/63 - 1
11-108218017-C-G c.8596C>G p.Leu2866Val Missense 59/63 - 1
11-108218020-G-C c.8599G>C p.Gly2867Arg Missense 59/63 - 4
11-108218020-G-A c.8599G>A p.Gly2867Arg Missense 59/63 - 4
11-108218026-G-C c.8605G>C p.Gly2869Arg Missense 59/63 - 1
11-108218029-G-C c.8608G>C p.Asp2870His Missense 59/63 - 2
11-108218030-A-C c.8609A>C p.Asp2870Ala Missense 59/63 - 11
11-108218035-C-A c.8614C>A p.His2872Asn Missense 59/63 - 1
11-108218044-A-C c.8623A>C p.Asn2875His Missense 59/63 - 1
11-108218045-A-G c.8624A>G p.Asn2875Ser Missense 59/63 - 4
11-108218046-T-A c.8625T>A p.Asn2875Lys Missense 59/63 - 3
11-108218046-T-G c.8625T>G p.Asn2875Lys Missense 59/63 - 3
11-108218052-G-C c.8631G>C p.Leu2877Phe Missense 59/63 - 3
11-108218052-G-T c.8631G>T p.Leu2877Phe Missense 59/63 - 3
11-108218062-C-T c.8641C>T p.Gln2881* Nonsense 59/63 - 1
11-108218076-T-TT c.8655dup p.Val2886Cysfs*10 Frameshift 59/63 - 1
11-108218080-C-G c.8659C>G p.His2887Asp Missense 59/63 - 1
11-108218084-T-C c.8663T>C p.Ile2888Thr Missense 59/63 - 2
11-108218086-G-C c.8665G>C p.Asp2889His Missense 59/63 - 1
11-108218087-A-C c.8666A>C p.Asp2889Ala Missense 59/63 - 2
11-108218089-C-G c.8668C>G p.Leu2890Val Missense 59/63 - 1
11-108218092-G-C c.8671G>C p.Gly2891Arg Missense 59/63 - 1
11-108219420-G-A c.8671+1328G>A - IntronicSNV - 59/62 1
11-108220657-C-T c.8671+2565C>T - IntronicSNV - 59/62 10
11-108221099-A-T c.8671+3007A>T - IntronicSNV - 59/62 1
11-108221099-A-C c.8671+3007A>C - IntronicSNV - 59/62 1
11-108224450-T-C c.8672-43T>C - IntronicSNV - 59/62 1
11-108224471-T-G c.8672-22T>G - IntronicSNV - 59/62 1
11-108224493-G-A c.8672G>A p.Gly2891Asp Missense 60/63 - 5
11-108224498-G-C c.8677G>C p.Ala2893Pro Missense 60/63 - 1
11-108224508-A-C c.8687A>C p.Gln2896Pro Missense 60/63 - 1
11-108224510-G-A c.8689G>A p.Gly2897Ser Missense 60/63 - 1
11-108224516-A-C c.8695A>C p.Ile2899Leu Missense 60/63 - 1
11-108224518-C-G c.8697C>G p.Ile2899Met Missense 60/63 - 2
11-108224541-C-T c.8720C>T p.Pro2907Leu Missense 60/63 - 1
11-108224555-A-G c.8734A>G p.Arg2912Gly Missense 60/63 - 6
11-108224559-A-G c.8738A>G p.Asp2913Gly Missense 60/63 - 1
11-108224562-T-C c.8741T>C p.Ile2914Thr Missense 60/63 - 3
11-108224583-C-A c.8762C>A p.Thr2921Lys Missense 60/63 - 1
11-108224583-C-T c.8762C>T p.Thr2921Met Missense 60/63 - 1
11-108224595-G-T c.8774G>T p.Gly2925Val Missense 60/63 - 2
11-108224615-A-C c.8786+8A>C - IntronicSNV - 60/62 5
11-108224615-A-G c.8786+8A>G - IntronicSNV - 60/62 1
11-108224618-T-C c.8786+11T>C - IntronicSNV - 60/62 1
11-108225483-C-A c.8787-55C>A - IntronicSNV - 60/62 6
11-108225483-C-T c.8787-55C>T - IntronicSNV - 60/62 7
11-108225483-C-G c.8787-55C>G - IntronicSNV - 60/62 6
11-108225540-G-T c.8789G>T p.Cys2930Phe Missense 61/63 - 1
11-108225544-T-A c.8793T>A p.Cys2931* Nonsense 61/63 - 1
11-108225551-A-G c.8800A>G p.Thr2934Ala Missense 61/63 - 1
11-108225561-T-C c.8810T>C p.Val2937Ala Missense 61/63 - 1
11-108225565-TGAGAAACTCTC-T c.8814_8824del p.Met2938Ilefs*14 Frameshift 61/63 - 1
11-108225575-C-T c.8824C>T p.Gln2942* Nonsense 61/63 - 1
11-108225584-C-A c.8833C>A p.Leu2945Met Missense 61/63 - 1
11-108225584-TCT-T c.8833_8834del p.Leu2945Valfs*10 Frameshift 61/63 - 2
11-108225586-TGT-T c.8835_8836del p.Leu2946Asnfs*9 Frameshift 61/63 - 1
11-108225661-A-G c.8850+60A>G - IntronicSNV - 61/62 21
11-108225661-A-T c.8850+60A>T - IntronicSNV - 61/62 21
11-108226025-A-G c.8850+424A>G - IntronicSNV - 61/62 2
11-108234836-A-C c.8851-973A>C - IntronicSNV - 61/62 11
11-108234836-A-T c.8851-973A>T - IntronicSNV - 61/62 11
11-108235115-C-A c.8851-694C>A - IntronicSNV - 61/62 4
11-108235808-G-T c.8851-1G>T - IntronicSNV - 61/62 1
11-108235809-G-A c.8851G>A p.Val2951Ile Missense 62/63 - 2
11-108235814-T-TA c.8856_8857insA p.Leu2953Thrfs*3 Frameshift 62/63 - 1
11-108235834-GACTG-G c.8876_8879del p.Asp2959Glyfs*3 Frameshift 62/63 - 1
11-108235838-G-A c.8880G>A p.Trp2960* Nonsense 62/63 - 1
11-108235837-G-A c.8879G>A p.Trp2960* Nonsense 62/63 - 1
11-108235838-G-T c.8880G>T p.Trp2960Cys Missense 62/63 - 1
11-108235838-G-C c.8880G>C p.Trp2960Cys Missense 62/63 - 1
11-108235845-AAT-TAA c.8887_8889delinsTAA p.Asn2963* Nonsense 62/63 - 1
11-108235853-G-C c.8895G>C p.Leu2965Phe Missense 62/63 - 1
11-108235855-A-G c.8897A>G p.Lys2966Arg Missense 62/63 - 1
11-108235865-T-G c.8907T>G p.Tyr2969* Nonsense 62/63 - 1
11-108235869-C-T c.8911C>T p.Gln2971* Nonsense 62/63 - 1
11-108235879-C-T c.8921C>T p.Pro2974Leu Missense 62/63 - 1
11-108235892-CTG-C c.8934_8935del p.Glu2979Alafs*9 Frameshift 62/63 - 1
11-108235923-C-G c.8965C>G p.Gln2989Glu Missense 62/63 - 1
11-108235929-TG-GC c.8971_8972delinsGC p.Cys2991Ala Missense 62/63 - 1
11-108235929-TG-CT c.8971_8972delinsCT p.Cys2991Leu Missense 62/63 - 9
11-108235932-AA-GC c.8974_8975delinsGC p.Lys2992Ala Missense 62/63 - 1
11-108235935-C-T c.8977C>T p.Arg2993* Nonsense 62/63 - 7
11-108235944-AG-GC c.8986_8987delinsGC p.Ser2996Ala Missense 62/63 - 4
11-108235944-AG-CC c.8986_8987delinsCC p.Ser2996Pro Missense 62/63 - 1
11-108236062-C-T c.8998C>T p.Gln3000* Nonsense 63/63 - 1
11-108236071-A-G c.9007A>G p.Asn3003Asp Missense 63/63 - 1
11-108236072-A-G c.9008A>G p.Asn3003Ser Missense 63/63 - 2
11-108236072-A-C c.9008A>C p.Asn3003Thr Missense 63/63 - 1
11-108236072-A-T c.9008A>T p.Asn3003Ile Missense 63/63 - 1
11-108236080-G-A c.9016G>A p.Ala3006Thr Missense 63/63 - 1
11-108236080-G-C c.9016G>C p.Ala3006Pro Missense 63/63 - 1
11-108236085-A-AA c.9021dup p.Arg3008Thrfs*55 Frameshift 63/63 - 1
11-108236085-A-C c.9021A>C p.Glu3007Asp Missense 63/63 - 1
11-108236085-A-T c.9021A>T p.Glu3007Asp Missense 63/63 - 1
11-108236086-C-T c.9022C>T p.Arg3008Cys Missense 63/63 - 16
11-108236087-G-A c.9023G>A p.Arg3008His Missense 63/63 - 10
11-108236095-A-G c.9031A>G p.Met3011Val Missense 63/63 - 1
11-108236104-C-T c.9040C>T p.Gln3014* Nonsense 63/63 - 1
11-108236110-AA-GC c.9046_9047delinsGC p.Lys3016Ala Missense 63/63 - 1
11-108236110-A-C c.9046A>C p.Lys3016Gln Missense 63/63 - 2
11-108236111-A-G c.9047A>G p.Lys3016Arg Missense 63/63 - 3
11-108236116-AA-GC c.9052_9053delinsGC p.Lys3018Ala Missense 63/63 - 1
11-108236117-A-G c.9053A>G p.Lys3018Arg Missense 63/63 - 1
11-108236118-A-T c.9054A>T p.Lys3018Asn Missense 63/63 - 1
11-108236118-A-C c.9054A>C p.Lys3018Asn Missense 63/63 - 1
11-108236120-G-A c.9056G>A p.Gly3019Glu Missense 63/63 - 1
11-108236141-T-G c.9077T>G p.Leu3026Arg Missense 63/63 - 1
11-108236144-G-T c.9080G>T p.Ser3027Ile Missense 63/63 - 1
11-108236153-G-A c.9089G>A p.Gly3030Glu Missense 63/63 - 1
11-108236157-AAGTGAA-A c.9093_9098del p.Gln3031_Asn3033delinsHis MultiAAMissense 63/63 - 1
11-108236162-A-T c.9098A>T p.Asn3033Ile Missense 63/63 - 1
11-108236195-AA-A c.9131del p.Asn3044Ilefs*31 Frameshift 63/63 - 1
11-108236198-T-C c.9134T>C p.Leu3045Pro Missense 63/63 - 1
11-108236203-C-T c.9139C>T p.Arg3047* Nonsense 63/63 - 13
11-108236204-G-A c.9140G>A p.Arg3047Gln Missense 63/63 - 1
11-108236209-TT-GC c.9145_9146delinsGC p.Phe3049Ala Missense 63/63 - 1
11-108236213-C-T c.9149C>T p.Pro3050Leu Missense 63/63 - 2
11-108236215-G-A c.9151G>A p.Gly3051Arg Missense 63/63 - 1
11-108236215-G-C c.9151G>C p.Gly3051Arg Missense 63/63 - 1
11-108236218-TG-GC c.9154_9155delinsGC p.Trp3052Ala Missense 63/63 - 1
11-108236224-G-A c.9160G>A p.Ala3054Thr Missense 63/63 - 1
11-108236264-C-G c.*29C>G - 3-UTRSNV 63/63 - 2
11-108236279-A-G c.*44A>G - 3-UTRSNV 63/63 - 1
11-108236471-C-T c.*236C>T - 3-UTRSNV 63/63 - 2
11-108236636-A-G c.*401A>G - 3-UTRSNV 63/63 - 2
11-108236783-G-T c.*548G>T - 3-UTRSNV 63/63 - 6
11-108236783-G-A c.*548G>A - 3-UTRSNV 63/63 - 6
11-108236783-G-C c.*548G>C - 3-UTRSNV 63/63 - 6
11-108236919-T-G c.*684T>G - 3-UTRSNV 63/63 - 1
11-108237010-G-A c.*775G>A - 3-UTRSNV 63/63 - 1
11-108237056-G-A c.*821G>A - 3-UTRSNV 63/63 - 1
11-108237462-C-T c.*1227C>T - 3-UTRSNV 63/63 - 1
11-108237662-T-C c.*1427T>C - 3-UTRSNV 63/63 - 2
11-108237839-C-T c.*1604C>T - 3-UTRSNV 63/63 - 8
11-108238034-C-T c.*1799C>T - 3-UTRSNV 63/63 - 1
11-108238962-G-A c.*2727G>A - 3-UTRSNV 63/63 - 1
11-108239001-G-A c.*2766G>A - 3-UTRSNV 63/63 - 1
11-108239077-A-G c.*2842A>G - 3-UTRSNV 63/63 - 1
11-108239101-T-C c.*2866T>C - 3-UTRSNV 63/63 - 1
11-108239307-C-T c.*3072C>T - 3-UTRSNV 63/63 - 1
11-108239307-C-A c.*3072C>A - 3-UTRSNV 63/63 - 1
11-108239371-A-G c.*3136A>G - 3-UTRSNV 63/63 - 1
11-108239465-C-T c.*3230C>T - 3-UTRSNV 63/63 - 2
11-108239628-G-T c.*3393G>T - 3-UTRSNV 63/63 - 10
11-108239630-G-A c.*3395G>A - 3-UTRSNV 63/63 - 1
11-108239648-T-C c.*3413T>C - 3-UTRSNV 63/63 - 1