ATM ATM serine/threonine kinase

Annotation transcript: NM_000051.4

4354 unique variant annotations were identified in 2701 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
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 - 71
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 9
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 4
11-108093794-A-C c.-150A>C - IntronicSNV 1/63 - 1
11-108093797-T-C c.-147T>C - IntronicSNV 1/63 - 1
11-108093815-A-C c.-129A>C - IntronicSNV 1/63 - 1
11-108098352-A-C c.1A>C p.M1? Missense 2/63 - 1
11-108098352-A-G c.1A>G p.M1? Missense 2/63 - 4
11-108098353-T-C c.2T>C p.M1? Missense 2/63 - 6
11-108098352-A-AT c.2dup p.M1? Frameshift 2/63 - 1
11-108098354-G-A c.3G>A p.M1? Missense 2/63 - 1
11-108098355-GAGT-G c.4_6del p.S2del InFrameDeletion 2/63 - 1
11-108098364-C-CT c.15dup p.N6* Nonsense 2/63 - 2
11-108098366-T-TA c.17dup p.N6Kfs*2 Frameshift 2/63 - 1
11-108098369-T-C c.18T>C p.N6= Synonymous 2/63 - 2
11-108098368-A-AT c.18dup p.D7* Nonsense 2/63 - 1
11-108098367-AATG-A c.19_21del p.D7del InFrameDeletion 2/63 - 1
11-108098376-C-T c.25C>T p.L9F Missense 2/63 - 1
11-108098379-A-T c.28A>T p.I10F Missense 2/63 - 1
11-108098379-A-C c.28A>C p.I10L Missense 2/63 - 1
11-108098380-T-C c.29T>C p.I10T Missense 2/63 - 1
11-108098382-TG-GC c.31_32delinsGC p.C11A Missense 2/63 - 2
11-108098383-G-T c.32G>T p.C11F Missense 2/63 - 1
11-108098384-C-T c.33C>T p.C11= Synonymous 2/63 - 3
11-108098384-C-A c.33C>A p.C11* Nonsense 2/63 - 1
11-108098385-TGC-ATG c.34_36delinsATG p.C12M Missense 2/63 - 3
11-108098385-TG-CA c.34_35inv p.C12H Missense 2/63 - 1
11-108098385-T-C c.34T>C p.C12R Missense 2/63 - 3
11-108098385-TG-GC c.34_35delinsGC p.C12A Missense 2/63 - 1
11-108098386-G-T c.35G>T p.C12F Missense 2/63 - 3
11-108098388-CGT-TGA c.37_39delinsTGA p.R13* Nonsense 2/63 - 1
11-108098388-CGT-TGG c.37_39delinsTGG p.R13W Missense 2/63 - 1
11-108098388-C-T c.37C>T p.R13C Missense 2/63 - 4
11-108098389-G-A c.38G>A p.R13H Missense 2/63 - 2
11-108098389-G-T c.38G>T p.R13L Missense 2/63 - 1
11-108098391-CAA-GAC c.40_42delinsGAC p.Q14D Missense 2/63 - 1
11-108098390-TCAA-T c.41_43del p.Q14del InFrameDeletion 2/63 - 3
11-108098392-A-G c.41A>G p.Q14R Missense 2/63 - 1
11-108098394-AC-A c.43del p.L15* Frameshift 2/63 - 3
11-108098395-T-G c.44T>G p.L15R Missense 2/63 - 3
11-108098395-T-A c.44T>A p.L15Q Missense 2/63 - 2
11-108098397-G-A c.46G>A p.E16K Missense 2/63 - 1
11-108098398-A-C c.47A>C p.E16A Missense 2/63 - 1
11-108098400-CAT-GAG c.49_51delinsGAG p.H17E Missense 2/63 - 1
11-108098400-C-A c.49C>A p.H17N Missense 2/63 - 2
11-108098400-CA-GC c.49_50delinsGC p.H17A Missense 2/63 - 1
11-108098402-T-A c.51T>A p.H17Q Missense 2/63 - 1
11-108098402-T-G c.51T>G p.H17Q Missense 2/63 - 1
11-108098403-G-T c.52G>T p.D18Y Missense 2/63 - 1
11-108098400-CATGATAGAGCTACAGAACGAAAGGTAGTAA-C c.52_72+9del - SpliceDonorDeletion 2/63 2/62 1
11-108098403-G-A c.52G>A p.D18N Missense 2/63 - 1
11-108098406-A-T c.55A>T p.R19* Nonsense 2/63 - 2
11-108098406-AG-GC c.55_56delinsGC p.R19A Missense 2/63 - 1
11-108098409-G-A c.58G>A p.A20T Missense 2/63 - 2
11-108098410-C-A c.59C>A p.A20D Missense 2/63 - 1
11-108098410-CT-AG c.59_60inv p.A20E Missense 2/63 - 1
11-108098411-T-A c.60T>A p.A20= Synonymous 2/63 - 2
11-108098411-T-C c.60T>C p.A20= Synonymous 2/63 - 2
11-108098411-T-G c.60T>G p.A20= Synonymous 2/63 - 2
11-108098412-A-G c.61A>G p.T21A Missense 2/63 - 4
11-108098412-ACA-GAC c.61_63delinsGAC p.T21D Missense 2/63 - 2
11-108098412-ACA-TGG c.61_63delinsTGG p.T21W Missense 2/63 - 1
11-108098412-AC-GT c.61_62inv p.T21V Missense 2/63 - 1
11-108098412-A-C c.61A>C p.T21P Missense 2/63 - 1
11-108098413-CA-AC c.62_63delinsAC p.T21N Missense 2/63 - 1
11-108098413-C-T c.62C>T p.T21I Missense 2/63 - 1
11-108098415-G-C c.64G>C p.E22Q Missense 2/63 - 2
11-108098415-G-A c.64G>A p.E22K Missense 2/63 - 2
11-108098415-GAA-TTT c.64_66delinsTTT p.E22F Missense 2/63 - 1
11-108098415-GAA-TGT c.64_66delinsTGT p.E22C Missense 2/63 - 1
11-108098415-G-T c.64G>T p.E22* Nonsense 2/63 - 2
11-108098416-A-G c.65A>G p.E22G Missense 2/63 - 7
11-108098417-A-G c.66A>G p.E22= Synonymous 2/63 - 1
11-108098418-C-T c.67C>T p.R23* Nonsense 2/63 - 16
11-108098418-C-G c.67C>G p.R23G Missense 2/63 - 1
11-108098419-G-A c.68G>A p.R23Q Missense 2/63 - 7
11-108098421-A-T c.70A>T p.K24* Nonsense 2/63 - 1
11-108098424-G-A c.72+1G>A - IntronicSNV - 2/62 2
11-108098425-T-C c.72+2T>C - IntronicSNV - 2/62 1
11-108098454-TGAAATAAGTGTGATTAGTAACCCATTATTATTTCCTTTTTATTTTCAGAAAGAAGTTGA-T c.72+37_88del - Unclassified 3/63 2/62 1
11-108098460-TAA-T c.72+37_72+38del - IntronicDeletion - 2/62 2
11-108098459-T-TAA c.72+37_72+38dup - IntronicInsertion - 2/62 1
11-108098503-A-G c.73A>G p.K25E Missense 3/63 - 1
11-108098503-AA-GC c.73_74delinsGC p.K25A Missense 3/63 - 1
11-108098505-A-C c.75A>C p.K25N Missense 3/63 - 1
11-108098505-A-T c.75A>T p.K25N Missense 3/63 - 1
11-108098506-G-A c.76G>A p.E26K Missense 3/63 - 1
11-108098506-GAA-TGT c.76_78delinsTGT p.E26C Missense 3/63 - 1
11-108098508-A-G c.78A>G p.E26= Synonymous 3/63 - 1
11-108098508-A-T c.78A>T p.E26D Missense 3/63 - 1
11-108098509-G-A c.79G>A p.V27I Missense 3/63 - 1
11-108098511-T-C c.81T>C p.V27= Synonymous 3/63 - 1
11-108098514-G-A c.84G>A p.E28= Synonymous 3/63 - 1
11-108098515-A-T c.85A>T p.K29* Nonsense 3/63 - 1
11-108098516-AA-TG c.86_87delinsTG p.K29M Missense 3/63 - 1
11-108098516-A-G c.86A>G p.K29R Missense 3/63 - 2
11-108098514-GA-G c.87del p.K29Nfs*5 Frameshift 3/63 - 1
11-108098518-ATTT-A c.88_90del p.F30del InFrameDeletion 3/63 - 1
11-108098519-T-G c.89T>G p.F30C Missense 3/63 - 1
11-108098521-AA-GC c.91_92delinsGC p.K31A Missense 3/63 - 2
11-108098522-A-G c.92A>G p.K31R Missense 3/63 - 2
11-108098523-G-A c.93G>A p.K31= Synonymous 3/63 - 1
11-108098524-C-T c.94C>T p.R32C Missense 3/63 - 5
11-108098524-C-G c.94C>G p.R32G Missense 3/63 - 1
11-108098525-GC-AA c.95_96delinsAA p.R32Q Missense 3/63 - 1
11-108098526-C-A c.96C>A p.R32= Synonymous 3/63 - 1
11-108098526-C-G c.96C>G p.R32= Synonymous 3/63 - 1
11-108098526-C-T c.96C>T p.R32= Synonymous 3/63 - 1
11-108098529-G-C c.99G>C p.L33= Synonymous 3/63 - 1
11-108098531-T-A c.101T>A p.I34N Missense 3/63 - 1
11-108098533-C-T c.103C>T p.R35* Nonsense 3/63 - 22
11-108098533-C-A c.103C>A p.R35= Synonymous 3/63 - 1
11-108098534-G-A c.104G>A p.R35Q Missense 3/63 - 1
11-108098536-GA-TT c.106_107delinsTT p.D36F Missense 3/63 - 1
11-108098540-C-G c.110C>G p.P37R Missense 3/63 - 1
11-108098540-C-A c.110C>A p.P37H Missense 3/63 - 1
11-108098541-T-G c.111T>G p.P37= Synonymous 3/63 - 1
11-108098541-T-A c.111T>A p.P37= Synonymous 3/63 - 1
11-108098541-T-C c.111T>C p.P37= Synonymous 3/63 - 1
11-108098542-G-T c.112G>T p.E38* Nonsense 3/63 - 1
11-108098542-G-A c.112G>A p.E38K Missense 3/63 - 1
11-108098545-A-G c.115A>G p.T39A Missense 3/63 - 2
11-108098546-C-T c.116C>T p.T39I Missense 3/63 - 2
11-108098548-A-C c.118A>C p.I40L Missense 3/63 - 1
11-108098548-A-G c.118A>G p.I40V Missense 3/63 - 1
11-108098551-AA-GC c.121_122delinsGC p.K41A Missense 3/63 - 2
11-108098555-A-G c.125A>G p.H42R Missense 3/63 - 8
11-108098560-G-A c.130G>A p.D44N Missense 3/63 - 3
11-108098560-G-C c.130G>C p.D44H Missense 3/63 - 1
11-108098561-A-G c.131A>G p.D44G Missense 3/63 - 4
11-108098562-T-G c.132T>G p.D44E Missense 3/63 - 1
11-108098562-T-A c.132T>A p.D44E Missense 3/63 - 1
11-108098563-CGG-TGT c.133_135delinsTGT p.R45C Missense 3/63 - 1
11-108098563-C-T c.133C>T p.R45W Missense 3/63 - 4
11-108098563-C-A c.133C>A p.R45= Synonymous 3/63 - 1
11-108098564-G-A c.134G>A p.R45Q Missense 3/63 - 2
11-108098565-G-C c.135G>C p.R45= Synonymous 3/63 - 1
11-108098567-A-G c.137A>G p.H46R Missense 3/63 - 2
11-108098565-GCATT-G c.138_141del p.H46Qfs*9 Frameshift 3/63 - 1
11-108098569-T-G c.139T>G p.S47A Missense 3/63 - 4
11-108098570-C-G c.140C>G p.S47* Nonsense 3/63 - 2
11-108098576-C-G c.146C>G p.S49C Missense 3/63 - 54
11-108098576-C-T c.146C>T p.S49F Missense 3/63 - 17
11-108098578-A-C c.148A>C p.K50Q Missense 3/63 - 1
11-108098583-A-T c.153A>T p.Q51H Missense 3/63 - 1
11-108098583-A-C c.153A>C p.Q51H Missense 3/63 - 1
11-108098590-T-C c.160T>C p.Y54H Missense 3/63 - 1
11-108098592-T-A c.162T>A p.Y54* Nonsense 3/63 - 2
11-108098592-T-C c.162T>C p.Y54= Synonymous 3/63 - 4
11-108098592-T-G c.162T>G p.Y54* Nonsense 3/63 - 1
11-108098600-G-A c.170G>A p.W57* Nonsense 3/63 - 13
11-108098601-G-A c.171G>A p.W57* Nonsense 3/63 - 5
11-108098600-G-T c.170G>T p.W57L Missense 3/63 - 1
11-108098599-TG-T c.172del p.D58Mfs*18 Frameshift 3/63 - 1
11-108098602-G-A c.172G>A p.D58N Missense 3/63 - 2
11-108098603-A-C c.173A>C p.D58A Missense 3/63 - 1
11-108098605-G-A c.175G>A p.A59T Missense 3/63 - 1
11-108098606-C-T c.176C>T p.A59V Missense 3/63 - 1
11-108098607-T-A c.177T>A p.A59= Synonymous 3/63 - 1
11-108098607-T-C c.177T>C p.A59= Synonymous 3/63 - 1
11-108098607-T-G c.177T>G p.A59= Synonymous 3/63 - 1
11-108098607-T-TAGG c.177_178insAGG p.A59_V60insR InFrameInsertion 3/63 - 1
11-108098611-T-C c.181T>C p.F61L Missense 3/63 - 2
11-108098613-T-A c.183T>A p.F61L Missense 3/63 - 1
11-108098613-T-G c.183T>G p.F61L Missense 3/63 - 1
11-108098611-T-G c.181T>G p.F61V Missense 3/63 - 1
11-108098613-T-C c.183T>C p.F61= Synonymous 3/63 - 1
11-108098614-AG-CC c.184_185delinsCC p.R62P Missense 3/63 - 1
11-108098614-AG-GC c.184_185delinsGC p.R62A Missense 3/63 - 1
11-108098615-G-A c.185G>A p.R62K Missense 3/63 - 1
11-108098616-G-A c.185+1G>A - IntronicSNV - 3/62 2
11-108099905-A-G c.186A>G p.R62= Synonymous 4/63 - 1
11-108098614-A-C c.184A>C p.R62= Synonymous 3/63 - 1
11-108099908-T-TGCAGCGCCC c.189_190insGCAGCGCCC p.F63_L64insAAP InFrameInsertion 4/63 - 1
11-108099909-TT-GC c.190_191delinsGC p.L64A Missense 4/63 - 1
11-108099912-CA-GC c.193_194delinsGC p.Q65A Missense 4/63 - 2
11-108099912-C-T c.193C>T p.Q65* Nonsense 4/63 - 3
11-108099913-A-G c.194A>G p.Q65R Missense 4/63 - 10
11-108099913-A-C c.194A>C p.Q65P Missense 4/63 - 1
11-108099919-A-G c.200A>G p.Y67C Missense 4/63 - 4
11-108099920-T-A c.201T>A p.Y67* Nonsense 4/63 - 1
11-108099920-T-G c.201T>G p.Y67* Nonsense 4/63 - 1
11-108099921-A-G c.202A>G p.I68V Missense 4/63 - 1
11-108099921-AT-A c.204del p.Q69Rfs*7 Frameshift 4/63 - 1
11-108099925-A-T c.206A>T p.Q69L Missense 4/63 - 1
11-108099928-A-G c.209A>G p.K70R Missense 4/63 - 1
11-108099929-A-C c.210A>C p.K70N Missense 4/63 - 1
11-108099929-A-T c.210A>T p.K70N Missense 4/63 - 1
11-108099930-G-A c.211G>A p.E71K Missense 4/63 - 1
11-108099930-GA-G c.214del p.T72Qfs*4 Frameshift 4/63 - 1
11-108099933-A-G c.214A>G p.T72A Missense 4/63 - 1
11-108099934-C-G c.215C>G p.T72R Missense 4/63 - 1
11-108099934-CAG-C c.217_218del p.E73Mfs*26 Frameshift 4/63 - 2
11-108099936-G-A c.217G>A p.E73K Missense 4/63 - 2
11-108099936-G-C c.217G>C p.E73Q Missense 4/63 - 1
11-108099937-A-G c.218A>G p.E73G Missense 4/63 - 1
11-108099939-TG-GC c.220_221delinsGC p.C74A Missense 4/63 - 1
11-108099939-T-G c.220T>G p.C74G Missense 4/63 - 1
11-108099940-G-T c.221G>T p.C74F Missense 4/63 - 1
11-108099942-C-CT c.224dup p.R76Efs*24 Frameshift 4/63 - 1
11-108099945-AG-CA c.226_227delinsCA p.R76Q Missense 4/63 - 1
11-108099945-AG-CT c.226_227inv p.R76L Missense 4/63 - 1
11-108099946-G-A c.227G>A p.R76K Missense 4/63 - 1
11-108099949-T-A c.230T>A p.I77K Missense 4/63 - 1
11-108099951-G-A c.232G>A p.A78T Missense 4/63 - 2
11-108099952-CA-AC c.233_234delinsAC p.A78D Missense 4/63 - 1
11-108099954-AA-GC c.235_236delinsGC p.K79A Missense 4/63 - 3
11-108099955-AA-GC c.236_237delinsGC p.K79S Missense 4/63 - 1
11-108099955-A-G c.236A>G p.K79R Missense 4/63 - 2
11-108099952-CA-C c.237del p.K79Nfs*37 Frameshift 4/63 - 2
11-108099957-C-T c.238C>T p.P80S Missense 4/63 - 1
11-108099960-A-G c.241A>G p.N81D Missense 4/63 - 1
11-108099958-C-CA c.242dup p.N81Kfs*19 Frameshift 4/63 - 1
11-108099963-GTA-ATG c.244_246delinsATG p.V82M Missense 4/63 - 1
11-108099966-TC-AG c.247_248delinsAG p.S83R Missense 4/63 - 1
11-108099966-TC-AT c.247_248delinsAT p.S83I Missense 4/63 - 5
11-108099966-TC-GT c.247_248delinsGT p.S83V Missense 4/63 - 1
11-108099966-T-G c.247T>G p.S83A Missense 4/63 - 1
11-108099966-TC-GA c.247_248inv p.S83E Missense 4/63 - 1
11-108099966-T-A c.247T>A p.S83T Missense 4/63 - 1
11-108099967-C-T c.248C>T p.S83L Missense 4/63 - 14
11-108099967-CA-AT c.248_249delinsAT p.S83Y Missense 4/63 - 2
11-108099967-CA-TT c.248_249delinsTT p.S83F Missense 4/63 - 1
11-108099969-GC-TT c.250_251delinsTT p.A84F Missense 4/63 - 2
11-108099969-G-T c.250G>T p.A84S Missense 4/63 - 1
11-108099969-G-A c.250G>A p.A84T Missense 4/63 - 1
11-108099970-C-T c.251C>T p.A84V Missense 4/63 - 1
11-108099970-CC-AG c.251_252delinsAG p.A84E Missense 4/63 - 1
11-108099972-T-G c.253T>G p.S85A Missense 4/63 - 4
11-108099972-TCA-GAC c.253_255delinsGAC p.S85D Missense 4/63 - 1
11-108099973-CA-GT c.254_255delinsGT p.S85C Missense 4/63 - 1
11-108099973-C-T c.254C>T p.S85L Missense 4/63 - 1
11-108099973-C-A c.254C>A p.S85* Nonsense 4/63 - 1
11-108099975-A-G c.256A>G p.T86A Missense 4/63 - 2
11-108099975-AC-GA c.256_257delinsGA p.T86E Missense 4/63 - 1
11-108099976-C-T c.257C>T p.T86I Missense 4/63 - 1
11-108099984-T-G c.265T>G p.S89A Missense 4/63 - 1
11-108099985-C-T c.266C>T p.S89F Missense 4/63 - 1
11-108099987-A-G c.268A>G p.R90G Missense 4/63 - 1
11-108099987-AG-GC c.268_269delinsGC p.R90A Missense 4/63 - 1
11-108099987-AGG-TGT c.268_270delinsTGT p.R90C Missense 4/63 - 1
11-108099988-G-A c.269G>A p.R90K Missense 4/63 - 3
11-108099988-GG-AC c.269_270delinsAC p.R90N Missense 4/63 - 1
11-108099992-AGAAAAAG-A c.273_279del p.K92Cfs*22 Frameshift 4/63 - 1
11-108099993-AA-GC c.274_275delinsGC p.K92A Missense 4/63 - 1
11-108099993-A-G c.274A>G p.K92E Missense 4/63 - 1
11-108099994-A-C c.275A>C p.K92T Missense 4/63 - 4
11-108099995-A-G c.276A>G p.K92= Synonymous 4/63 - 1
11-108099997-A-G c.278A>G p.K93R Missense 4/63 - 2
11-108099998-G-C c.279G>C p.K93N Missense 4/63 - 1
11-108099998-G-T c.279G>T p.K93N Missense 4/63 - 1
11-108100002-C-A c.283C>A p.Q95K Missense 4/63 - 4
11-108100002-C-T c.283C>T p.Q95* Nonsense 4/63 - 3
11-108100002-C-G c.283C>G p.Q95E Missense 4/63 - 1
11-108100003-A-C c.284A>C p.Q95P Missense 4/63 - 1
11-108100011-AGT-CAA c.292_294delinsCAA p.S98Q Missense 4/63 - 1
11-108100011-AG-GC c.292_293delinsGC p.S98A Missense 4/63 - 1
11-108100011-A-C c.292A>C p.S98R Missense 4/63 - 1
11-108100014-A-G c.295A>G p.S99G Missense 4/63 - 6
11-108100014-AG-GC c.295_296delinsGC p.S99A Missense 4/63 - 3
11-108100017-TTG-GAC c.298_300delinsGAC p.L100D Missense 4/63 - 1
11-108100018-T-C c.299T>C p.L100S Missense 4/63 - 1
11-108100021-T-C c.302T>C p.V101A Missense 4/63 - 1
11-108100028-C-A c.309C>A p.Y103* Nonsense 4/63 - 2
11-108100028-C-G c.309C>G p.Y103* Nonsense 4/63 - 2
11-108100028-C-T c.309C>T p.Y103= Synonymous 4/63 - 1
11-108100032-A-G c.313A>G p.I105V Missense 4/63 - 2
11-108100035-A-G c.316A>G p.K106E Missense 4/63 - 2
11-108100039-G-A c.320G>A p.C107Y Missense 4/63 - 2
11-108100038-T-TG c.320dup p.C107Wfs*8 Frameshift 4/63 - 1
11-108100041-G-A c.322G>A p.A108T Missense 4/63 - 1
11-108100042-C-T c.323C>T p.A108V Missense 4/63 - 1
11-108100042-C-G c.323C>G p.A108G Missense 4/63 - 1
11-108100043-CAAACAGAA-C c.324_331del p.N109Sfs*3 SpliceDonorDeletion 4/63 - 1
11-108100046-C-G c.327C>G p.N109K Missense 4/63 - 1
11-108100048-G-A c.329G>A p.R110K Missense 4/63 - 1
11-108100050-A-T c.331A>T p.R111* Nonsense 4/63 - 1
11-108100051-G-A c.331+1G>A - IntronicSNV - 4/62 2
11-108100052-T-G c.331+2T>G - IntronicSNV - 4/62 1
11-108100055-G-A c.331+5G>A - IntronicSNV - 4/62 2
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 11
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
11-108106396-G-A c.332-1G>A - IntronicSNV - 4/62 1
11-108106397-G-A c.332G>A p.R111K Missense 5/63 - 1
11-108106397-G-GA c.333dup p.A112Sfs*3 SpliceAcceptorInsertion 5/63 - 1
11-108106399-G-A c.334G>A p.A112T Missense 5/63 - 5
11-108106401-A-G c.336A>G p.A112= Synonymous 5/63 - 1
11-108106405-AGG-TGT c.340_342delinsTGT p.R114C Missense 5/63 - 1
11-108106406-G-A c.341G>A p.R114K Missense 5/63 - 1
11-108106410-A-AT c.345_346insT p.K116* Nonsense 5/63 - 1
11-108106411-A-T c.346A>T p.K116* Nonsense 5/63 - 1
11-108106413-A-C c.348A>C p.K116N Missense 5/63 - 1
11-108106413-A-T c.348A>T p.K116N Missense 5/63 - 1
11-108106416-T-A c.351T>A p.C117* Nonsense 5/63 - 1
11-108106417-TCAAG-T c.352_355del p.Q118Nfs*3 Frameshift 5/63 - 1
11-108106417-C-T c.352C>T p.Q118* Nonsense 5/63 - 2
11-108106421-A-C c.356A>C p.E119A Missense 5/63 - 1
11-108106422-A-C c.357A>C p.E119D Missense 5/63 - 1
11-108106422-A-T c.357A>T p.E119D Missense 5/63 - 1
11-108106423-CT-TG c.358_359delinsTG p.L120C Missense 5/63 - 1
11-108106423-CTC-GAG c.358_360inv p.L120E Missense 5/63 - 1
11-108106423-CTC-TAA c.358_360delinsTAA p.L120* Nonsense 5/63 - 1
11-108106424-T-G c.359T>G p.L120R Missense 5/63 - 2
11-108106426-TT-GC c.361_362delinsGC p.L121A Missense 5/63 - 1
11-108106426-TT-CC c.361_362delinsCC p.L121P Missense 5/63 - 1
11-108106426-TT-AC c.361_362delinsAC p.L121T Missense 5/63 - 1
11-108106427-T-A c.362T>A p.L121* Nonsense 5/63 - 2
11-108106430-A-G c.365A>G p.N122S Missense 5/63 - 2
11-108106433-TA-T c.368del p.Y123Lfs*6 Frameshift 5/63 - 1
11-108106435-AT-GA c.370_371delinsGA p.I124D Missense 5/63 - 1
11-108106435-A-G c.370A>G p.I124V Missense 5/63 - 5
11-108106442-A-G c.377A>G p.D126G Missense 5/63 - 1
11-108106443-T-G c.378T>G p.D126E Missense 5/63 - 2
11-108106443-T-A c.378T>A p.D126E Missense 5/63 - 15
11-108106443-AT-A c.378del p.D126Efs*3 Frameshift 5/63 - 1
11-108106444-A-G c.379A>G p.T127A Missense 5/63 - 1
11-108106446-CA-C c.381del p.V128* Frameshift 5/63 - 10
11-108106446-A-G c.381A>G p.T127= Synonymous 5/63 - 1
11-108106446-A-T c.381A>T p.T127= Synonymous 5/63 - 1
11-108106446-A-C c.381A>C p.T127= Synonymous 5/63 - 1
11-108106447-G-A c.382G>A p.V128M Missense 5/63 - 1
11-108106450-A-T c.385A>T p.K129* Nonsense 5/63 - 1
11-108106450-AA-GC c.385_386delinsGC p.K129A Missense 5/63 - 1
11-108106451-AA-TG c.386_387delinsTG p.K129M Missense 5/63 - 1
11-108106451-A-C c.386A>C p.K129T Missense 5/63 - 1
11-108106452-A-C c.387A>C p.K129N Missense 5/63 - 1
11-108106452-A-T c.387A>T p.K129N Missense 5/63 - 1
11-108106449-GA-G c.387del p.D130Ifs*23 Frameshift 5/63 - 1
11-108106453-G-T c.388G>T p.D130Y Missense 5/63 - 1
11-108106453-G-A c.388G>A p.D130N Missense 5/63 - 1
11-108106453-AG-A c.388del p.D130Ifs*23 Frameshift 5/63 - 1
11-108106454-A-C c.389A>C p.D130A Missense 5/63 - 12
11-108106454-A-T c.389A>T p.D130V Missense 5/63 - 2
11-108106454-A-G c.389A>G p.D130G Missense 5/63 - 1
11-108106456-T-G c.391T>G p.S131A Missense 5/63 - 1
11-108106457-C-A c.392C>A p.S131* Nonsense 5/63 - 2
11-108106457-CA-TT c.392_393delinsTT p.S131F Missense 5/63 - 1
11-108106457-C-G c.392C>G p.S131* Nonsense 5/63 - 2
11-108106459-T-G c.394T>G p.S132A Missense 5/63 - 2
11-108106463-A-G c.398A>G p.N133S Missense 5/63 - 1
11-108106466-G-A c.401G>A p.G134D Missense 5/63 - 1
11-108106469-C-T c.404C>T p.A135V Missense 5/63 - 2
11-108106474-T-C c.409T>C p.Y137H Missense 5/63 - 1
11-108106476-C-T c.411C>T p.Y137= Synonymous 5/63 - 1
11-108106477-G-A c.412G>A p.G138R Missense 5/63 - 2
11-108106477-G-C c.412G>C p.G138R Missense 5/63 - 2
11-108106477-G-T c.412G>T p.G138* Nonsense 5/63 - 1
11-108106478-GA-AC c.413_414delinsAC p.G138D Missense 5/63 - 2
11-108106478-G-C c.413G>C p.G138A Missense 5/63 - 2
11-108106483-G-C c.418G>C p.D140H Missense 5/63 - 4
11-108106483-G-A c.418G>A p.D140N Missense 5/63 - 1
11-108106483-G-T c.418G>T p.D140Y Missense 5/63 - 1
11-108106484-A-C c.419A>C p.D140A Missense 5/63 - 1
11-108106484-A-G c.419A>G p.D140G Missense 5/63 - 1
11-108106486-T-C c.421T>C p.C141R Missense 5/63 - 1
11-108106488-T-G c.423T>G p.C141W Missense 5/63 - 1
11-108106490-G-A c.425G>A p.S142N Missense 5/63 - 1
11-108106496-T-TA c.432dup p.L145Tfs*14 Frameshift 5/63 - 1
11-108106498-C-G c.433C>G p.L145V Missense 5/63 - 1
11-108106499-T-G c.434T>G p.L145R Missense 5/63 - 2
11-108106504-A-G c.439A>G p.K147E Missense 5/63 - 2
11-108106505-A-G c.440A>G p.K147R Missense 5/63 - 1
11-108106507-G-A c.442G>A p.D148N Missense 5/63 - 1
11-108106506-A-AG c.442dup p.D148Gfs*11 Frameshift 5/63 - 1
11-108106507-GAC-CAA c.442_444delinsCAA p.D148Q Missense 5/63 - 1
11-108106508-A-C c.443A>C p.D148A Missense 5/63 - 3
11-108106509-C-G c.444C>G p.D148E Missense 5/63 - 8
11-108106509-C-A c.444C>A p.D148E Missense 5/63 - 8
11-108106510-CATT-C c.445_447del p.I149del InFrameDeletion 5/63 - 1
11-108106510-A-T c.445A>T p.I149F Missense 5/63 - 1
11-108106513-C-A c.448C>A p.L150I Missense 5/63 - 1
11-108106514-T-C c.449T>C p.L150P Missense 5/63 - 1
11-108106510-ATTCT-A c.450_453del p.S151* Frameshift 5/63 - 3
11-108106516-T-G c.451T>G p.S151A Missense 5/63 - 2
11-108106516-TC-GA c.451_452inv p.S151D Missense 5/63 - 1
11-108106517-C-T c.452C>T p.S151F Missense 5/63 - 1
11-108106517-CT-AA c.452_453delinsAA p.S151* Nonsense 5/63 - 1
11-108106519-TG-T c.454del p.V152* Frameshift 5/63 - 1
11-108106522-AG-CC c.457_458delinsCC p.R153P Missense 5/63 - 1
11-108106522-A-G c.457A>G p.R153G Missense 5/63 - 1
11-108106523-G-T c.458G>T p.R153I Missense 5/63 - 1
11-108106523-G-A c.458G>A p.R153K Missense 5/63 - 1
11-108106526-A-T c.461A>T p.K154I Missense 5/63 - 1
11-108106527-A-G c.462A>G p.K154= Synonymous 5/63 - 1
11-108106529-A-G c.464A>G p.Y155C Missense 5/63 - 1
11-108106530-C-A c.465C>A p.Y155* Nonsense 5/63 - 1
11-108106530-C-G c.465C>G p.Y155* Nonsense 5/63 - 1
11-108106532-G-A c.467G>A p.W156* Nonsense 5/63 - 2
11-108106533-G-A c.468G>A p.W156* Nonsense 5/63 - 4
11-108106534-TG-AC c.469_470delinsAC p.C157T Missense 5/63 - 3
11-108106537-G-C c.472G>C p.E158Q Missense 5/63 - 1
11-108106537-GAA-TGT c.472_474delinsTGT p.E158C Missense 5/63 - 1
11-108106541-T-A c.476T>A p.I159K Missense 5/63 - 1
11-108106541-TATCTC-T c.478_482del p.S160Afs*23 Frameshift 5/63 - 7
11-108106543-T-C c.478T>C p.S160P Missense 5/63 - 1
11-108106543-T-G c.478T>G p.S160A Missense 5/63 - 2
11-108106543-TCTCAG-T c.480_484del p.Q161Tfs*22 Frameshift 5/63 - 1
11-108106546-C-T c.481C>T p.Q161* Nonsense 5/63 - 1
11-108106546-C-A c.481C>A p.Q161K Missense 5/63 - 1
11-108106546-C-G c.481C>G p.Q161E Missense 5/63 - 1
11-108106547-A-C c.482A>C p.Q161P Missense 5/63 - 1
11-108106548-G-A c.483G>A p.Q161= Synonymous 5/63 - 1
11-108106549-C-T c.484C>T p.Q162* Nonsense 5/63 - 1
11-108106552-C-T c.487C>T p.Q163* Nonsense 5/63 - 2
11-108106555-T-A c.490T>A p.W164R Missense 5/63 - 1
11-108106555-TG-GC c.490_491delinsGC p.W164A Missense 5/63 - 2
11-108106556-G-C c.491G>C p.W164S Missense 5/63 - 2
11-108106557-G-T c.492G>T p.W164C Missense 5/63 - 1
11-108106558-TTA-AAC c.493_495delinsAAC p.L165N Missense 5/63 - 2
11-108106559-T-G c.494T>G p.L165* Nonsense 5/63 - 2
11-108106557-G-GT c.494dup p.L165Ffs*20 Frameshift 5/63 - 1
11-108106561-G-C c.496G>C p.E166Q Missense 5/63 - 2
11-108106561-G-A c.496G>A p.E166K 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 4
11-108106782-C-A c.496+221C>A - IntronicSNV - 5/62 1
11-108106782-C-T c.496+221C>T - IntronicSNV - 5/62 1
11-108107009-G-A c.496+448G>A - IntronicSNV - 5/62 3
11-108107009-G-T c.496+448G>T - IntronicSNV - 5/62 3
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
11-108108856-G-A c.496+2295G>A - IntronicSNV - 5/62 2
11-108112978-G-T c.497-1702G>T - IntronicSNV - 5/62 1
11-108113564-A-G c.497-1116A>G - IntronicSNV - 5/62 1
11-108114632-T-G c.497-48T>G - IntronicSNV - 5/62 1
11-108114634-T-C c.497-46T>C - IntronicSNV - 5/62 1
11-108114679-G-C c.497-1G>C - IntronicSNV - 5/62 1
11-108114679-G-A c.497-1G>A - IntronicSNV - 5/62 1
11-108114680-A-C c.497A>C p.E166A Missense 6/63 - 1
11-108114682-T-G c.499T>G p.L167V Missense 6/63 - 1
11-108114681-ATTG-A c.501_503del p.L167del InFrameDeletion 6/63 - 1
11-108114684-G-T c.501G>T p.L167F Missense 6/63 - 1
11-108114685-TTCTCTG-T c.504_509del p.F168_V170delinsL MultiAAMissense 6/63 - 1
11-108114688-T-G c.505T>G p.S169A Missense 6/63 - 1
11-108114689-C-T c.506C>T p.S169F Missense 6/63 - 1
11-108114690-CT-C c.507del p.V170Cfs*7 Frameshift 6/63 - 2
11-108114689-CTG-C c.510_511del p.Y171Lfs*13 Frameshift 6/63 - 1
11-108114691-GTGTACTTCAGGCTCTATC-G c.511_528del p.Y171_L176del InFrameDeletion 6/63 - 1
11-108114695-A-G c.512A>G p.Y171C Missense 6/63 - 2
11-108114696-C-T c.513C>T p.Y171= Synonymous 6/63 - 3
11-108114696-C-A c.513C>A p.Y171* Nonsense 6/63 - 2
11-108114696-C-G c.513C>G p.Y171* Nonsense 6/63 - 2
11-108114697-T-A c.514T>A p.F172I Missense 6/63 - 1
11-108114701-G-A c.518G>A p.R173K Missense 6/63 - 1
11-108114703-CT-AC c.520_521delinsAC p.L174T Missense 6/63 - 1
11-108114703-CT-AG c.520_521inv p.L174S Missense 6/63 - 1
11-108114704-T-C c.521T>C p.L174P Missense 6/63 - 1
11-108114706-TA-CG c.523_524delinsCG p.Y175R Missense 6/63 - 1
11-108114707-A-AT c.525dup p.L176Sfs*9 Frameshift 6/63 - 1
11-108114710-T-G c.527T>G p.L176R Missense 6/63 - 1
11-108114715-CC-TG c.532_533delinsTG p.P178C Missense 6/63 - 1
11-108114718-TC-GA c.535_536inv p.S179E Missense 6/63 - 1
11-108114719-C-T c.536C>T p.S179L Missense 6/63 - 1
11-108114719-C-G c.536C>G p.S179* Nonsense 6/63 - 1
11-108114721-C-T c.538C>T p.Q180* Nonsense 6/63 - 3
11-108114724-AG-A c.541del p.D181Mfs*6 Frameshift 6/63 - 1
11-108114727-G-C c.544G>C p.V182L Missense 6/63 - 5
11-108114727-G-A c.544G>A p.V182I Missense 6/63 - 1
11-108114730-CA-GC c.547_548delinsGC p.H183A Missense 6/63 - 1
11-108114731-A-T c.548A>T p.H183L Missense 6/63 - 1
11-108114733-A-G c.550A>G p.R184G Missense 6/63 - 1
11-108114733-AG-GC c.550_551delinsGC p.R184A Missense 6/63 - 1
11-108114734-G-C c.551G>C p.R184T Missense 6/63 - 1
11-108114736-G-T c.553G>T p.V185F Missense 6/63 - 1
11-108114740-T-A c.557T>A p.L186* Nonsense 6/63 - 2
11-108114740-T-G c.557T>G p.L186* Nonsense 6/63 - 2
11-108114749-G-C c.566G>C p.R189T Missense 6/63 - 4
11-108114749-G-A c.566G>A p.R189K Missense 6/63 - 8
11-108114752-T-A c.569T>A p.I190K Missense 6/63 - 1
11-108114755-T-A c.572T>A p.I191N Missense 6/63 - 2
11-108114763-GTT-ATG c.580_582delinsATG p.V194M Missense 6/63 - 1
11-108114763-G-T c.580G>T p.V194F Missense 6/63 - 1
11-108114766-A-G c.583A>G p.T195A Missense 6/63 - 2
11-108114766-AC-TG c.583_584delinsTG p.T195C Missense 6/63 - 1
11-108114765-T-TA c.583dup p.T195Nfs*9 Frameshift 6/63 - 1
11-108114766-ACC-GAG c.583_585delinsGAG p.T195E Missense 6/63 - 1
11-108114767-C-T c.584C>T p.T195I Missense 6/63 - 1
11-108114766-AC-A c.585del p.G197Dfs*9 Frameshift 6/63 - 1
11-108114769-A-T c.586A>T p.K196* Nonsense 6/63 - 1
11-108114772-GG-CA c.589_590delinsCA p.G197Q Missense 6/63 - 1
11-108114772-GGA-AGC c.589_591delinsAGC p.G197S Missense 6/63 - 1
11-108114772-G-A c.589G>A p.G197R Missense 6/63 - 1
11-108114773-G-A c.590G>A p.G197E Missense 6/63 - 2
11-108114777-C-A c.594C>A p.C198* Nonsense 6/63 - 1
11-108114781-TC-GA c.598_599inv p.S200D Missense 6/63 - 1
11-108114782-C-G c.599C>G p.S200C Missense 6/63 - 1
11-108114784-C-A c.601C>A p.Q201K Missense 6/63 - 1
11-108114784-C-T c.601C>T p.Q201* Nonsense 6/63 - 2
11-108114784-C-G c.601C>G p.Q201E Missense 6/63 - 2
11-108114785-A-C c.602A>C p.Q201P Missense 6/63 - 1
11-108114783-TCAGA-T c.602_605del p.Q201Lfs*4 Frameshift 6/63 - 1
11-108114790-G-A c.607G>A p.D203N Missense 6/63 - 1
11-108114791-A-C c.608A>C p.D203A Missense 6/63 - 2
11-108114792-C-T c.609C>T p.D203= Synonymous 6/63 - 2
11-108114793-G-T c.610G>T p.G204* Nonsense 6/63 - 2
11-108114793-G-A c.610G>A p.G204R Missense 6/63 - 2
11-108114793-G-C c.610G>C p.G204R Missense 6/63 - 1
11-108114799-A-C c.616A>C p.N206H Missense 6/63 - 1
11-108114799-A-T c.616A>T p.N206Y Missense 6/63 - 1
11-108114802-T-C c.619T>C p.S207P Missense 6/63 - 1
11-108114800-AT-A c.619del p.S207Pfs*23 Frameshift 6/63 - 1
11-108114807-A-C c.624A>C p.K208N Missense 6/63 - 1
11-108114808-T-C c.625T>C p.F209L Missense 6/63 - 1
11-108114811-T-C c.628T>C p.L210= Synonymous 6/63 - 1
11-108114813-G-A c.630G>A p.L210= Synonymous 6/63 - 1
11-108114812-T-G c.629T>G p.L210W Missense 6/63 - 1
11-108114816-C-G c.633C>G p.D211E Missense 6/63 - 1
11-108114816-C-A c.633C>A p.D211E Missense 6/63 - 1
11-108114820-TT-GC c.637_638delinsGC p.F213A Missense 6/63 - 1
11-108114820-T-C c.637T>C p.F213L Missense 6/63 - 1
11-108114822-T-A c.639T>A p.F213L Missense 6/63 - 1
11-108114822-T-G c.639T>G p.F213L Missense 6/63 - 1
11-108114821-T-C c.638T>C p.F213S Missense 6/63 - 1
11-108114823-T-C c.640T>C p.S214P Missense 6/63 - 3
11-108114816-CT-C c.640del p.S214Pfs*16 Frameshift 6/63 - 4
11-108114823-T-G c.640T>G p.S214A Missense 6/63 - 2
11-108114823-TC-GA c.640_641inv p.S214D Missense 6/63 - 1
11-108114823-TCC-GAG c.640_642delinsGAG p.S214E Missense 6/63 - 2
11-108114816-C-CT c.640dup p.S214Ffs*40 Frameshift 6/63 - 1
11-108114826-A-C c.643A>C p.K215Q Missense 6/63 - 1
11-108114827-A-G c.644A>G p.K215R Missense 6/63 - 1
11-108114827-A-T c.644A>T p.K215M Missense 6/63 - 1
11-108114829-G-T c.646G>T p.A216S Missense 6/63 - 1
11-108114832-AT-GC c.649_650delinsGC p.I217A Missense 6/63 - 1
11-108114835-C-T c.652C>T p.Q218* Nonsense 6/63 - 4
11-108114837-G-T c.654G>T p.Q218H Missense 6/63 - 1
11-108114838-T-C c.655T>C p.C219R Missense 6/63 - 1
11-108114840-GT-G c.657del p.C219Wfs*11 Frameshift 6/63 - 1
11-108114840-T-C c.657T>C p.C219= Synonymous 6/63 - 2
11-108114842-C-T c.659C>T p.A220V Missense 6/63 - 3
11-108114843-CGAGGTAATCTAATCTCTTTTTCTTTTGTTTTGTATTGAAATACTTTTGATCTTGCAAGA-C c.660_662+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/63 6/62 1
11-108115515-GACAAGAAAAGAGCTCTTCAGGTCTAAATCATATCTTAGCAGCTCTTACTATCTTCCTCA-G c.664_722del p.Q222Dfs*12 Unclassified 7/63 - 1
11-108115518-AAGAAAAGAGCTCT-A c.666_678del p.Q222Hfs*4 Frameshift 7/63 - 1
11-108115520-A-G c.668A>G p.E223G Missense 7/63 - 1
11-108115522-A-G c.670A>G p.K224E Missense 7/63 - 7
11-108115519-GA-G c.671del p.K224Rfs*6 Frameshift 7/63 - 1
11-108115525-AG-CC c.673_674delinsCC p.S225P Missense 7/63 - 1
11-108115525-AG-GC c.673_674delinsGC p.S225A Missense 7/63 - 2
11-108115526-G-A c.674G>A p.S225N Missense 7/63 - 1
11-108115528-T-G c.676T>G p.S226A Missense 7/63 - 1
11-108115532-C-T c.680C>T p.S227L Missense 7/63 - 1
11-108115538-TA-T c.689del p.N230Ifs*4 Frameshift 7/63 - 1
11-108115541-A-G c.689A>G p.N230S Missense 7/63 - 1
11-108115543-TC-T c.691del p.H231Ifs*3 Frameshift 7/63 - 1
11-108115544-A-G c.692A>G p.H231R Missense 7/63 - 1
11-108115546-A-G c.694A>G p.I232V Missense 7/63 - 1
11-108115544-ATATCT-A c.695_699del p.I232Sfs*20 Frameshift 7/63 - 1
11-108115552-G-A c.700G>A p.A234T Missense 7/63 - 1
11-108115553-C-G c.701C>G p.A234G Missense 7/63 - 1
11-108115559-T-G c.707T>G p.L236R Missense 7/63 - 1
11-108115560-T-TA c.709dup p.T237Nfs*17 Frameshift 7/63 - 2
11-108115561-A-G c.709A>G p.T237A Missense 7/63 - 2
11-108115564-A-G c.712A>G p.I238V Missense 7/63 - 1
11-108115564-TA-T c.712del p.I238Sfs*17 Frameshift 7/63 - 1
11-108115565-T-C c.713T>C p.I238T Missense 7/63 - 1
11-108115568-T-C c.716T>C p.F239S Missense 7/63 - 2
11-108115569-TCCTC-T c.717_720del p.F239Lfs*15 Frameshift 7/63 - 2
11-108115573-A-G c.721A>G p.K241E Missense 7/63 - 1
11-108115574-A-G c.722A>G p.K241R Missense 7/63 - 1
11-108115577-CTT-C c.727_728del p.L243Gfs*10 Frameshift 7/63 - 1
11-108115580-T-C c.728T>C p.L243S Missense 7/63 - 3
11-108115583-C-T c.731C>T p.A244V Missense 7/63 - 2
11-108115585-G-A c.733G>A p.V245I Missense 7/63 - 2
11-108115586-T-G c.734T>G p.V245G Missense 7/63 - 1
11-108115587-C-T c.735C>T p.V245= Synonymous 7/63 - 7
11-108115587-C-G c.735C>G p.V245= Synonymous 7/63 - 4
11-108115589-A-G c.737A>G p.N246S Missense 7/63 - 1
11-108115591-T-C c.739T>C p.F247L Missense 7/63 - 1
11-108115590-C-CT c.741dup p.R248Sfs*6 Frameshift 7/63 - 1
11-108115594-C-T c.742C>T p.R248* Nonsense 7/63 - 16
11-108115594-CGA-TGG c.742_744delinsTGG p.R248W Missense 7/63 - 4
11-108115594-C-G c.742C>G p.R248G Missense 7/63 - 1
11-108115594-CGA-AGC c.742_744delinsAGC p.R248S Missense 7/63 - 1
11-108115594-CG-GA c.742_743delinsGA p.R248E Missense 7/63 - 1
11-108115595-G-A c.743G>A p.R248Q Missense 7/63 - 9
11-108115595-G-T c.743G>T p.R248L Missense 7/63 - 2
11-108115599-T-A c.747T>A p.I249= Synonymous 7/63 - 1
11-108115600-C-T c.748C>T p.R250* Nonsense 7/63 - 17
11-108115600-CGA-TGG c.748_750delinsTGG p.R250W Missense 7/63 - 2
11-108115601-G-A c.749G>A p.R250Q Missense 7/63 - 1
11-108115601-G-C c.749G>C p.R250P Missense 7/63 - 2
11-108115606-T-G c.754T>G p.C252G Missense 7/63 - 1
11-108115602-AGT-A c.756_757del p.C252* Frameshift 7/63 - 1
11-108115609-G-GA c.759dup p.L254Ifs*4 Frameshift 7/63 - 1
11-108115612-TT-CC c.760_761delinsCC p.L254P Missense 7/63 - 2
11-108115612-T-G c.760T>G p.L254V Missense 7/63 - 1
11-108115615-G-A c.763G>A p.G255R Missense 7/63 - 1
11-108115615-G-C c.763G>C p.G255R Missense 7/63 - 1
11-108115627-C-T c.775C>T p.L259F Missense 7/63 - 2
11-108115627-C-A c.775C>A p.L259I Missense 7/63 - 1
11-108115637-T-C c.785T>C p.L262S Missense 7/63 - 1
11-108115639-CTT-TAA c.787_789delinsTAA p.L263* Nonsense 7/63 - 1
11-108115639-CTT-GAG c.787_789delinsGAG p.L263E Missense 7/63 - 2
11-108115639-CT-AG c.787_788inv p.L263S Missense 7/63 - 1
11-108115639-CT-GC c.787_788delinsGC p.L263A Missense 7/63 - 1
11-108115639-C-T c.787C>T p.L263F Missense 7/63 - 1
11-108115639-CT-C c.790del p.Y264Ifs*12 Frameshift 7/63 - 4
11-108115643-A-G c.791A>G p.Y264C Missense 7/63 - 2
11-108115649-G-A c.797G>A p.W266* Nonsense 7/63 - 1
11-108115650-G-A c.798G>A p.W266* Nonsense 7/63 - 2
11-108115649-G-T c.797G>T p.W266L Missense 7/63 - 1
11-108115652-CT-AG c.800_801inv p.T267K Missense 7/63 - 1
11-108115654-C-T c.802C>T p.Q268* Nonsense 7/63 - 5
11-108115658-A-G c.806A>G p.H269R Missense 7/63 - 2
11-108115660-AGG-CAT c.808_810delinsCAT p.R270H Missense 7/63 - 24
11-108115660-AGG-TGT c.808_810delinsTGT p.R270C Missense 7/63 - 1
11-108115660-A-T c.808A>T p.R270W Missense 7/63 - 1
11-108115662-G-A c.810G>A p.R270= Synonymous 7/63 - 1
11-108115669-GA-CG c.817_818delinsCG p.D273R Missense 7/63 - 2
11-108115669-G-A c.817G>A p.D273N Missense 7/63 - 2
11-108115670-A-C c.818A>C p.D273A Missense 7/63 - 1
11-108115672-T-G c.820T>G p.S274A Missense 7/63 - 1
11-108115674-T-G c.822T>G p.S274= Synonymous 7/63 - 1
11-108115676-T-A c.824T>A p.L275* Nonsense 7/63 - 3
11-108115676-T-G c.824T>G p.L275* Nonsense 7/63 - 3
11-108115673-CT-C c.824del p.L275* Frameshift 7/63 - 3
11-108115677-A-T c.825A>T p.L275F Missense 7/63 - 1
11-108115677-A-C c.825A>C p.L275F Missense 7/63 - 1
11-108115678-A-C c.826A>C p.K276Q Missense 7/63 - 1
11-108115679-A-C c.827A>C p.K276T Missense 7/63 - 1
11-108115681-G-T c.829G>T p.E277* Nonsense 7/63 - 6
11-108115683-A-G c.831A>G p.E277= Synonymous 7/63 - 1
11-108115684-GTC-TTTTTTTAA c.832_834delinsTTTTTTTAA p.V278delinsFF* MultiAAMissense 7/63 - 1
11-108115684-GTC-ATG c.832_834delinsATG p.V278M Missense 7/63 - 1
11-108115688-T-C c.836T>C p.I279T Missense 7/63 - 1
11-108115690-A-G c.838A>G p.I280V Missense 7/63 - 1
11-108115693-G-T c.841G>T p.E281* Nonsense 7/63 - 2
11-108115697-T-C c.845T>C p.L282S Missense 7/63 - 1
11-108115698-A-T c.846A>T p.L282F Missense 7/63 - 1
11-108115698-A-C c.846A>C p.L282F Missense 7/63 - 1
11-108115702-C-T c.850C>T p.Q284* Nonsense 7/63 - 6
11-108115705-C-G c.853C>G p.L285V Missense 7/63 - 1
11-108115708-C-T c.856C>T p.Q286* Nonsense 7/63 - 1
11-108115711-AT-TA c.859_860delinsTA p.I287Y Missense 7/63 - 1
11-108115715-A-G c.863A>G p.Y288C Missense 7/63 - 14
11-108115722-T-A c.870T>A p.H290Q Missense 7/63 - 1
11-108115722-T-G c.870T>G p.H290Q Missense 7/63 - 1
11-108115724-A-C c.872A>C p.H291P Missense 7/63 - 1
11-108115727-C-T c.875C>T p.P292L Missense 7/63 - 15
11-108115730-A-C c.878A>C p.K293T Missense 7/63 - 1
11-108115730-A-G c.878A>G p.K293R Missense 7/63 - 1
11-108115733-G-T c.881G>T p.G294V Missense 7/63 - 2
11-108115735-G-A c.883G>A p.A295T Missense 7/63 - 1
11-108115738-A-C c.886A>C p.K296Q Missense 7/63 - 1
11-108115739-A-G c.887A>G p.K296R Missense 7/63 - 2
11-108115741-A-G c.889A>G p.T297A Missense 7/63 - 1
11-108115741-ACC-GAG c.889_891delinsGAG p.T297E Missense 7/63 - 1
11-108115742-CC-AG c.890_891delinsAG p.T297K Missense 7/63 - 1
11-108115744-C-T c.892C>T p.Q298* Nonsense 7/63 - 2
11-108115747-G-T c.895G>T p.E299* Nonsense 7/63 - 1
11-108115751-A-AGT c.899_900insGT p.G301* SpliceDonorInsertion 7/63 - 1
11-108115753-G-T c.901G>T p.G301C Missense 7/63 - 1
11-108115753-G-A c.901G>A p.G301S Missense 7/63 - 1
11-108115754-G-C c.901+1G>C - IntronicSNV - 7/62 1
11-108115754-G-T c.901+1G>T - IntronicSNV - 7/62 1
11-108115754-G-A c.901+1G>A - IntronicSNV - 7/62 4
11-108116482-A-C c.901+729A>C - IntronicSNV - 7/62 1
11-108117335-C-T c.902-356C>T - IntronicSNV - 7/62 7
11-108117690-G-T c.902-1G>T - IntronicSNV - 7/62 1
11-108117691-G-A c.902G>A p.G301D Missense 8/63 - 2
11-108117691-G-GT c.903dup p.A302Cfs*3 SpliceAcceptorInsertion 8/63 - 1
11-108117694-C-T c.905C>T p.A302V Missense 8/63 - 1
11-108117694-C-G c.905C>G p.A302G Missense 8/63 - 1
11-108117697-A-C c.908A>C p.Y303S Missense 8/63 - 1
11-108117698-T-A c.909T>A p.Y303* Nonsense 8/63 - 1
11-108117698-T-G c.909T>G p.Y303* Nonsense 8/63 - 1
11-108117699-G-T c.910G>T p.E304* Nonsense 8/63 - 1
11-108117700-A-G c.911A>G p.E304G Missense 8/63 - 1
11-108117699-GA-G c.912del p.E304Dfs*16 Frameshift 8/63 - 1
11-108117702-TCA-AAC c.913_915delinsAAC p.S305N Missense 8/63 - 1
11-108117703-C-A c.914C>A p.S305* Nonsense 8/63 - 1
11-108117703-C-G c.914C>G p.S305* Nonsense 8/63 - 1
11-108117704-A-T c.915A>T p.S305= Synonymous 8/63 - 1
11-108117704-A-G c.915A>G p.S305= Synonymous 8/63 - 1
11-108117704-A-C c.915A>C p.S305= Synonymous 8/63 - 1
11-108117705-A-G c.916A>G p.T306A Missense 8/63 - 1
11-108117706-CAA-C c.920_921del p.K307Mfs*10 Frameshift 8/63 - 3
11-108117712-G-A c.923G>A p.W308* Nonsense 8/63 - 3
11-108117713-G-A c.924G>A p.W308* Nonsense 8/63 - 1
11-108117717-AG-TA c.928_929delinsTA p.S310Y Missense 8/63 - 1
11-108117717-AG-TT c.928_929delinsTT p.S310F Missense 8/63 - 1
11-108117725-A-T c.936A>T p.L312F Missense 8/63 - 1
11-108117725-A-C c.936A>C p.L312F Missense 8/63 - 1
11-108117727-A-G c.938A>G p.Y313C Missense 8/63 - 1
11-108117728-C-A c.939C>A p.Y313* Nonsense 8/63 - 3
11-108117728-C-G c.939C>G p.Y313* Nonsense 8/63 - 1
11-108117732-CTT-C c.943_944del p.L315Ifs*2 Frameshift 8/63 - 2
11-108117735-T-C c.946T>C p.Y316H Missense 8/63 - 1
11-108117737-T-A c.948T>A p.Y316* Nonsense 8/63 - 1
11-108117737-T-G c.948T>G p.Y316* Nonsense 8/63 - 1
11-108117738-G-A c.949G>A p.D317N Missense 8/63 - 1
11-108117739-A-C c.950A>C p.D317A Missense 8/63 - 1
11-108117744-C-A c.955C>A p.L319I Missense 8/63 - 1
11-108117745-T-C c.956T>C p.L319P Missense 8/63 - 1
11-108117745-CT-C c.956del p.L319Qfs*2 Frameshift 8/63 - 1
11-108117745-T-G c.956T>G p.L319R Missense 8/63 - 1
11-108117753-G-A c.964G>A p.E322K Missense 8/63 - 1
11-108117753-G-C c.964G>C p.E322Q Missense 8/63 - 1
11-108117755-G-C c.966G>C p.E322D Missense 8/63 - 2
11-108117755-G-T c.966G>T p.E322D Missense 8/63 - 1
11-108117756-A-G c.967A>G p.I323V Missense 8/63 - 3
11-108117757-T-G c.968T>G p.I323R Missense 8/63 - 1
11-108117759-AG-GC c.970_971delinsGC p.S324A Missense 8/63 - 1
11-108117766-T-C c.977T>C p.I326T Missense 8/63 - 3
11-108117762-CAT-C c.977_978del p.I326Rfs*3 Frameshift 8/63 - 1
11-108117766-T-G c.977T>G p.I326R Missense 8/63 - 1
11-108117767-A-G c.978A>G p.I326M Missense 8/63 - 1
11-108117767-AG-A c.980del p.G327Efs*19 Frameshift 8/63 - 1
11-108117771-AG-GC c.982_983delinsGC p.S328A Missense 8/63 - 7
11-108117771-AG-GA c.982_983delinsGA p.S328D Missense 8/63 - 1
11-108117772-G-C c.983G>C p.S328T Missense 8/63 - 1
11-108117774-AGA-TGG c.985_987delinsTGG p.R329W Missense 8/63 - 1
11-108117775-G-A c.986G>A p.R329K Missense 8/63 - 1
11-108117777-G-T c.988G>T p.G330* Nonsense 8/63 - 1
11-108117777-G-A c.988G>A p.G330R Missense 8/63 - 1
11-108117777-G-C c.988G>C p.G330R Missense 8/63 - 1
11-108117779-A-G c.990A>G p.G330= Synonymous 8/63 - 1
11-108117780-A-T c.991A>T p.K331* Nonsense 8/63 - 1
11-108117780-AA-GC c.991_992delinsGC p.K331A Missense 8/63 - 1
11-108117778-GA-G c.992del p.K331Sfs*15 Frameshift 8/63 - 1
11-108117783-T-G c.994T>G p.Y332D Missense 8/63 - 1
11-108117784-A-G c.995A>G p.Y332C Missense 8/63 - 4
11-108117787-C-T c.998C>T p.S333F Missense 8/63 - 20
11-108117784-ATTC-A c.999_1001del p.S334del InFrameDeletion 8/63 - 1
11-108117790-CA-TT c.1001_1002delinsTT p.S334F Missense 8/63 - 1
11-108117790-C-A c.1001C>A p.S334* Nonsense 8/63 - 1
11-108117790-C-G c.1001C>G p.S334* Nonsense 8/63 - 1
11-108117795-ATTTCGTAATATTGCC-A c.1006_1020del p.F336_A340del InFrameDeletion 8/63 - 1
11-108117798-C-T c.1009C>T p.R337C Missense 8/63 - 40
11-108117798-C-A c.1009C>A p.R337S Missense 8/63 - 5
11-108117799-G-A c.1010G>A p.R337H Missense 8/63 - 28
11-108117799-G-T c.1010G>T p.R337L Missense 8/63 - 1
11-108117803-T-C c.1014T>C p.N338= Synonymous 8/63 - 1
11-108117804-A-G c.1015A>G p.I339V Missense 8/63 - 1
11-108117806-T-C c.1017T>C p.I339= Synonymous 8/63 - 1
11-108117804-AT-A c.1017del p.I339Mfs*7 Frameshift 8/63 - 1
11-108117807-GC-TT c.1018_1019delinsTT p.A340F Missense 8/63 - 1
11-108117807-G-T c.1018G>T p.A340S Missense 8/63 - 1
11-108117811-GT-G c.1022del p.V341Afs*5 Frameshift 8/63 - 1
11-108117812-C-A c.1023C>A p.V341= Synonymous 8/63 - 1
11-108117812-C-G c.1023C>G p.V341= Synonymous 8/63 - 1
11-108117812-C-T c.1023C>T p.V341= Synonymous 8/63 - 1
11-108117813-A-T c.1024A>T p.K342* Nonsense 8/63 - 1
11-108117812-C-CA c.1026dup p.E343Rfs*5 Frameshift 8/63 - 1
11-108117812-CAAAG-C c.1027_1030del p.E343Ifs*2 Frameshift 8/63 - 6
11-108117816-G-T c.1027G>T p.E343* Nonsense 8/63 - 1
11-108117816-G-A c.1027G>A p.E343K Missense 8/63 - 1
11-108117820-A-C c.1031A>C p.N344T Missense 8/63 - 1
11-108117823-T-A c.1034T>A p.L345* Nonsense 8/63 - 2
11-108117826-T-A c.1037T>A p.I346N Missense 8/63 - 2
11-108117828-GA-AG c.1039_1040delinsAG p.E347R Missense 8/63 - 1
11-108117828-G-T c.1039G>T p.E347* Nonsense 8/63 - 1
11-108117831-T-A c.1042T>A p.L348M Missense 8/63 - 1
11-108117832-T-C c.1043T>C p.L348S Missense 8/63 - 1
11-108117833-G-C c.1044G>C p.L348F Missense 8/63 - 1
11-108117836-GG-TA c.1047_1048delinsTA p.M349_A350delinsIT MultiAAMissense 8/63 - 1
11-108117837-G-T c.1048G>T p.A350S Missense 8/63 - 1
11-108117837-G-A c.1048G>A p.A350T Missense 8/63 - 1
11-108117837-G-C c.1048G>C p.A350P Missense 8/63 - 1
11-108117838-C-A c.1049C>A p.A350E Missense 8/63 - 1
11-108117838-C-T c.1049C>T p.A350V Missense 8/63 - 1
11-108117838-CAGAT-C c.1051_1054del p.D351Sfs*38 Frameshift 8/63 - 1
11-108117840-G-A c.1051G>A p.D351N Missense 8/63 - 1
11-108117841-A-T c.1052A>T p.D351V Missense 8/63 - 1
11-108117844-T-C c.1055T>C p.I352T Missense 8/63 - 2
11-108117845-CTG-C c.1058_1059del p.C353Sfs*5 Frameshift 8/63 - 4
11-108117850-A-G c.1061A>G p.H354R Missense 8/63 - 1
11-108117849-C-CA c.1061dup p.H354Qfs*5 Frameshift 8/63 - 1
11-108117852-C-T c.1063C>T p.Q355* Nonsense 8/63 - 2
11-108117854-G-T c.1065G>T p.Q355H Missense 8/63 - 1
11-108117854-G-C c.1065G>C p.Q355H Missense 8/63 - 1
11-108117855-G-T c.1065+1G>T - IntronicSNV - 8/62 2
11-108117856-T-C c.1065+2T>C - IntronicSNV - 8/62 1
11-108117871-A-G c.1065+17A>G - IntronicSNV - 8/62 1
11-108117876-A-G c.1065+22A>G - IntronicSNV - 8/62 1
11-108119654-T-C c.1066-6T>C - IntronicSNV - 8/62 1
11-108119654-T-G c.1066-6T>G - IntronicSNV - 8/62 1
11-108119660-G-A c.1066G>A p.V356I Missense 9/63 - 3
11-108119658-A-AG c.1066dup p.V356Gfs*3 SpliceAcceptorInsertion 9/63 - 1
11-108119663-T-C c.1069T>C p.F357L Missense 9/63 - 1
11-108119665-T-A c.1071T>A p.F357L Missense 9/63 - 1
11-108119665-T-G c.1071T>G p.F357L Missense 9/63 - 1
11-108119660-GT-G c.1071del p.F357Lfs*33 Frameshift 9/63 - 2
11-108119667-A-G c.1073A>G p.N358S Missense 9/63 - 2
11-108119669-G-T c.1075G>T p.E359* Nonsense 9/63 - 2
11-108119669-G-A c.1075G>A p.E359K Missense 9/63 - 1
11-108119673-A-T c.1079A>T p.D360V Missense 9/63 - 1
11-108119675-A-G c.1081A>G p.T361A Missense 9/63 - 1
11-108119675-ACC-GAG c.1081_1083delinsGAG p.T361E Missense 9/63 - 1
11-108119681-T-G c.1087T>G p.S363A Missense 9/63 - 1
11-108119681-TC-AA c.1087_1088delinsAA p.S363N Missense 9/63 - 1
11-108119682-C-T c.1088C>T p.S363F Missense 9/63 - 1
11-108119681-TC-T c.1089del p.L364Wfs*26 Frameshift 9/63 - 1
11-108119687-G-A c.1093G>A p.E365K Missense 9/63 - 3
11-108119693-TCT-GAG c.1099_1101delinsGAG p.S367E Missense 9/63 - 1
11-108119693-T-G c.1099T>G p.S367A Missense 9/63 - 12
11-108119693-T-C c.1099T>C p.S367P Missense 9/63 - 1
11-108119693-TC-GA c.1099_1100inv p.S367D Missense 9/63 - 1
11-108119694-TC-T c.1100del p.S367Ffs*23 Frameshift 9/63 - 2
11-108119696-C-T c.1102C>T p.Q368* Nonsense 9/63 - 2
11-108119696-CA-AT c.1102_1103delinsAT p.Q368I Missense 9/63 - 1
11-108119699-T-G c.1105T>G p.S369A Missense 9/63 - 2
11-108119700-CT-C c.1108del p.Y370Tfs*20 Frameshift 9/63 - 1
11-108119703-A-G c.1109A>G p.Y370C Missense 9/63 - 1
11-108119703-A-T c.1109A>T p.Y370F Missense 9/63 - 1
11-108119704-C-A c.1110C>A p.Y370* Nonsense 9/63 - 1
11-108119704-C-G c.1110C>G p.Y370* Nonsense 9/63 - 1
11-108119706-C-G c.1112C>G p.T371S Missense 9/63 - 1
11-108119707-T-TTA c.1113_1114insTA p.T372* Nonsense 9/63 - 1
11-108119708-A-G c.1114A>G p.T372A Missense 9/63 - 1
11-108119708-ACT-GAG c.1114_1116delinsGAG p.T372E Missense 9/63 - 1
11-108119709-CT-GG c.1115_1116delinsGG p.T372R Missense 9/63 - 1
11-108119711-A-G c.1117A>G p.T373A Missense 9/63 - 1
11-108119711-AC-GA c.1117_1118delinsGA p.T373E Missense 9/63 - 1
11-108119712-C-A c.1118C>A p.T373K Missense 9/63 - 1
11-108119714-C-T c.1120C>T p.Q374* Nonsense 9/63 - 1
11-108119715-A-T c.1121A>T p.Q374L Missense 9/63 - 1
11-108119715-A-G c.1121A>G p.Q374R Missense 9/63 - 1
11-108119714-CAA-C c.1122_1123del p.E376Ifs*2 Frameshift 9/63 - 2
11-108119719-A-T c.1125A>T p.R375S Missense 9/63 - 1
11-108119719-A-AT c.1125_1126insT p.E376* Nonsense 9/63 - 1
11-108119716-AAG-A c.1126_1127del p.E376Ifs*2 Frameshift 9/63 - 1
11-108119723-TC-GG c.1129_1130delinsGG p.S377G Missense 9/63 - 1
11-108119726-A-G c.1132A>G p.S378G Missense 9/63 - 1
11-108119726-AG-GC c.1132_1133delinsGC p.S378A Missense 9/63 - 2
11-108119733-A-C c.1139A>C p.Y380S Missense 9/63 - 1
11-108119735-A-G c.1141A>G p.S381G Missense 9/63 - 1
11-108119735-AGT-TGA c.1141_1143delinsTGA p.S381* Nonsense 9/63 - 1
11-108119741-C-G c.1147C>G p.P383A Missense 9/63 - 2
11-108119745-G-A c.1151G>A p.C384Y Missense 9/63 - 1
11-108119746-C-G c.1152C>G p.C384W Missense 9/63 - 1
11-108119747-A-G c.1153A>G p.K385E Missense 9/63 - 1
11-108119750-A-G c.1156A>G p.R386G Missense 9/63 - 1
11-108119755-G-T c.1161G>T p.K387N Missense 9/63 - 1
11-108119755-G-C c.1161G>C p.K387N Missense 9/63 - 1
11-108119757-A-G c.1163A>G p.K388R Missense 9/63 - 1
11-108119757-A-C c.1163A>C p.K388T Missense 9/63 - 2
11-108119758-A-T c.1164A>T p.K388N Missense 9/63 - 1
11-108119761-A-G c.1167A>G p.I389M Missense 9/63 - 1
11-108119762-G-A c.1168G>A p.E390K Missense 9/63 - 1
11-108119771-TG-GC c.1177_1178delinsGC p.W393A Missense 9/63 - 1
11-108119771-T-TA c.1177_1178insA p.W393* Nonsense 9/63 - 1
11-108119772-G-T c.1178G>T p.W393L Missense 9/63 - 1
11-108119772-G-A c.1178G>A p.W393* Nonsense 9/63 - 2
11-108119773-G-A c.1179G>A p.W393* Nonsense 9/63 - 1
11-108119771-TGG-T c.1179_1180del p.W393* Frameshift 9/63 - 1
11-108119773-GGGAAGTA-G c.1179_1185del p.W393* Frameshift 9/63 - 1
11-108119777-G-A c.1183G>A p.V395I Missense 9/63 - 1
11-108119783-A-C c.1189A>C p.K397Q Missense 9/63 - 1
11-108119786-G-A c.1192G>A p.D398N Missense 9/63 - 1
11-108119787-A-T c.1193A>T p.D398V Missense 9/63 - 1
11-108119789-C-T c.1195C>T p.H399Y Missense 9/63 - 1
11-108119795-C-T c.1201C>T p.Q401* Nonsense 9/63 - 1
11-108119796-A-G c.1202A>G p.Q401R Missense 9/63 - 1
11-108119800-G-A c.1206G>A p.K402= Synonymous 9/63 - 1
11-108119801-T-G c.1207T>G p.S403A Missense 9/63 - 6
11-108119802-C-T c.1208C>T p.S403L Missense 9/63 - 1
11-108119804-C-T c.1210C>T p.Q404* Nonsense 9/63 - 1
11-108119806-GA-G c.1214del p.N405Mfs*15 Frameshift 9/63 - 3
11-108119808-A-G c.1214A>G p.N405S Missense 9/63 - 1
11-108119809-AT-A c.1215del p.N405Kfs*15 Frameshift 9/63 - 3
11-108119809-T-G c.1215T>G p.N405K Missense 9/63 - 2
11-108119809-T-A c.1215T>A p.N405K Missense 9/63 - 1
11-108119816-GAT-CAA c.1222_1224delinsCAA p.D408Q Missense 9/63 - 1
11-108119817-A-C c.1223A>C p.D408A Missense 9/63 - 1
11-108119818-T-A c.1224T>A p.D408E Missense 9/63 - 1
11-108119820-T-C c.1226T>C p.L409P Missense 9/63 - 1
11-108119823-T-C c.1229T>C p.V410A Missense 9/63 - 25
11-108119826-C-T c.1232C>T p.P411L Missense 9/63 - 1
11-108119828-T-A c.1234T>A p.W412R Missense 9/63 - 1
11-108119828-T-C c.1234T>C p.W412R Missense 9/63 - 1
11-108119829-G-T c.1235G>T p.W412L Missense 9/63 - 1
11-108119829-G-A c.1235G>A p.W412* Nonsense 9/63 - 3
11-108121428-G-A c.1236G>A p.W412* Nonsense 10/63 - 2
11-108119831-T-C c.1235+2T>C - IntronicSNV - 9/62 1
11-108119832-A-G c.1235+3A>G - IntronicSNV - 9/62 1
11-108119834-A-G c.1235+5A>G - IntronicSNV - 9/62 1
11-108119838-T-C c.1235+9T>C - IntronicSNV - 9/62 1
11-108119840-A-G c.1235+11A>G - IntronicSNV - 9/62 1
11-108119845-T-C c.1235+16T>C - IntronicSNV - 9/62 1
11-108119851-A-G c.1235+22A>G - IntronicSNV - 9/62 1
11-108119863-T-C c.1235+34T>C - IntronicSNV - 9/62 1
11-108119888-A-G c.1235+59A>G - IntronicSNV - 9/62 1
11-108119909-T-C c.1235+80T>C - IntronicSNV - 9/62 1
11-108119929-A-T c.1235+100A>T - IntronicSNV - 9/62 1
11-108120439-G-A c.1235+610G>A - IntronicSNV - 9/62 1
11-108121426-A-G c.1236-2A>G - IntronicSNV - 9/62 1
11-108121426-A-T c.1236-2A>T - IntronicSNV - 9/62 1
11-108121428-G-C c.1236G>C p.W412C Missense 10/63 - 1
11-108121428-G-T c.1236G>T p.W412C Missense 10/63 - 2
11-108121426-A-AG c.1236dup p.L413Afs*17 SpliceAcceptorInsertion 10/63 - 1
11-108121429-C-A c.1237C>A p.L413I Missense 10/63 - 1
11-108121430-T-G c.1238T>G p.L413R Missense 10/63 - 1
11-108121432-C-T c.1240C>T p.Q414* Nonsense 10/63 - 1
11-108121432-C-A c.1240C>A p.Q414K Missense 10/63 - 1
11-108121434-G-T c.1242G>T p.Q414H Missense 10/63 - 1
11-108121435-A-T c.1243A>T p.I415F Missense 10/63 - 1
11-108121438-G-T c.1246G>T p.A416S Missense 10/63 - 1
11-108121439-C-A c.1247C>A p.A416E Missense 10/63 - 1
11-108121441-AACC-A c.1249_1251del p.T417del InFrameDeletion 10/63 - 1
11-108121441-A-G c.1249A>G p.T417A Missense 10/63 - 1
11-108121441-ACC-GCAGCA c.1249_1251delinsGCAGCA p.T417delinsAA MultiAAMissense 10/63 - 1
11-108121444-CA-GTAGC c.1252_1253delinsGTAGC p.Q418delinsVA MultiAAMissense 10/63 - 1
11-108121444-CCA-C c.1252_1253del p.Q418Ifs*11 Frameshift 10/63 - 1
11-108121446-A-G c.1254A>G p.Q418= Synonymous 10/63 - 3
11-108121448-TA-T c.1258del p.I420Yfs*17 Frameshift 10/63 - 1
11-108121451-T-C c.1259T>C p.I420T Missense 10/63 - 1
11-108121453-T-G c.1261T>G p.S421A Missense 10/63 - 1
11-108121454-C-G c.1262C>G p.S421* Nonsense 10/63 - 2
11-108121454-C-A c.1262C>A p.S421* Nonsense 10/63 - 2
11-108121456-A-C c.1264A>C p.K422Q Missense 10/63 - 1
11-108121458-G-C c.1266G>C p.K422N Missense 10/63 - 1
11-108121458-G-T c.1266G>T p.K422N Missense 10/63 - 1
11-108121463-C-A c.1271C>A p.P424H Missense 10/63 - 4
11-108121464-T-C c.1272T>C p.P424= Synonymous 10/63 - 3
11-108121464-T-G c.1272T>G p.P424= Synonymous 10/63 - 1
11-108121464-T-A c.1272T>A p.P424= Synonymous 10/63 - 1
11-108121465-G-T c.1273G>T p.A425S Missense 10/63 - 1
11-108121466-C-A c.1274C>A p.A425E Missense 10/63 - 1
11-108121466-C-CA c.1276dup p.S426Kfs*4 Frameshift 10/63 - 1
11-108121474-C-T c.1282C>T p.P428S Missense 10/63 - 1
11-108121475-C-T c.1283C>T p.P428L Missense 10/63 - 1
11-108121477-A-AT c.1285_1286insT p.N429Ifs*3 Frameshift 10/63 - 1
11-108121474-CCTAA-C c.1285_1288del p.N429Vfs*7 Frameshift 10/63 - 1
11-108121480-T-G c.1288T>G p.C430G Missense 10/63 - 1
11-108121480-TG-GT c.1288_1289delinsGT p.C430V Missense 10/63 - 1
11-108121482-T-A c.1290T>A p.C430* Nonsense 10/63 - 1
11-108121479-CTG-C c.1290_1291del p.C430* Frameshift 10/63 - 3
11-108121483-G-A c.1291G>A p.E431K Missense 10/63 - 1
11-108121483-G-T c.1291G>T p.E431* Nonsense 10/63 - 1
11-108121486-C-A c.1294C>A p.L432M Missense 10/63 - 1
11-108121487-T-A c.1295T>A p.L432Q Missense 10/63 - 1
11-108121496-TA-GG c.1304_1305delinsGG p.L435W Missense 10/63 - 1
11-108121496-T-A c.1304T>A p.L435* Nonsense 10/63 - 1
11-108121498-C-A c.1306C>A p.L436M Missense 10/63 - 1
11-108121500-TGA-T c.1308_1309del p.M437Dfs*49 Frameshift 10/63 - 1
11-108121502-T-A c.1310T>A p.M437K Missense 10/63 - 1
11-108121504-A-G c.1312A>G p.I438V Missense 10/63 - 1
11-108121504-A-AT c.1313dup p.L439Tfs*48 Frameshift 10/63 - 1
11-108121510-T-G c.1318T>G p.S440A Missense 10/63 - 1
11-108121510-TC-GA c.1318_1319inv p.S440D Missense 10/63 - 1
11-108121513-TCA-T c.1321_1322del p.Q441Afs*45 Frameshift 10/63 - 1
11-108121519-C-A c.1327C>A p.L443I Missense 10/63 - 1
11-108121522-C-T c.1330C>T p.P444S Missense 10/63 - 1
11-108121523-C-T c.1331C>T p.P444L Missense 10/63 - 1
11-108121525-C-T c.1333C>T p.Q445* Nonsense 10/63 - 1
11-108121521-AC-A c.1333del p.Q445Nfs*28 Frameshift 10/63 - 1
11-108121528-C-T c.1336C>T p.Q446* Nonsense 10/63 - 2
11-108121527-ACAG-A c.1337_1339del p.Q446del InFrameDeletion 10/63 - 1
11-108121530-G-T c.1338G>T p.Q446H Missense 10/63 - 1
11-108121531-C-T c.1339C>T p.R447* Nonsense 10/63 - 17
11-108121531-CG-GA c.1339_1340delinsGA p.R447E Missense 10/63 - 1
11-108121532-G-A c.1340G>A p.R447Q Missense 10/63 - 2
11-108121532-G-T c.1340G>T p.R447L Missense 10/63 - 1
11-108121538-G-C c.1346G>C p.G449A Missense 10/63 - 1
11-108121536-TG-T c.1348del p.E450Nfs*23 Frameshift 10/63 - 1
11-108121543-C-T c.1351C>T p.R451C Missense 10/63 - 7
11-108121544-G-A c.1352G>A p.R451H Missense 10/63 - 2
11-108121547-AC-A c.1355del p.T452Nfs*21 Frameshift 10/63 - 5
11-108121549-C-T c.1357C>T p.P453S Missense 10/63 - 2
11-108121549-C-A c.1357C>A p.P453T Missense 10/63 - 1
11-108121550-C-T c.1358C>T p.P453L Missense 10/63 - 1
11-108121550-C-G c.1358C>G p.P453R Missense 10/63 - 1
11-108121555-G-C c.1363G>C p.V455L Missense 10/63 - 1
11-108121555-G-A c.1363G>A p.V455M Missense 10/63 - 1
11-108121560-A-C c.1368A>C p.L456F Missense 10/63 - 1
11-108121559-T-TA c.1368dup p.R457Tfs*30 Frameshift 10/63 - 1
11-108121561-C-T c.1369C>T p.R457* Nonsense 10/63 - 15
11-108121561-C-G c.1369C>G p.R457G Missense 10/63 - 1
11-108121562-G-C c.1370G>C p.R457P Missense 10/63 - 1
11-108121562-G-A c.1370G>A p.R457Q Missense 10/63 - 1
11-108121565-G-A c.1373G>A p.C458Y Missense 10/63 - 1
11-108121567-C-G c.1375C>G p.L459V Missense 10/63 - 1
11-108121565-GC-G c.1375del p.T460Rfs*13 Frameshift 10/63 - 1
11-108121570-A-C c.1378A>C p.T460P Missense 10/63 - 1
11-108121573-G-T c.1381G>T p.E461* Nonsense 10/63 - 1
11-108121574-A-C c.1382A>C p.E461A Missense 10/63 - 1
11-108121575-A-C c.1383A>C p.E461D Missense 10/63 - 1
11-108121575-A-T c.1383A>T p.E461D Missense 10/63 - 1
11-108121580-C-G c.1388C>G p.A463G Missense 10/63 - 1
11-108121584-G-A c.1392G>A p.L464= Synonymous 10/63 - 1
11-108121585-T-A c.1393T>A p.C465S Missense 10/63 - 1
11-108121586-G-C c.1394G>C p.C465S Missense 10/63 - 1
11-108121585-TG-AC c.1393_1394delinsAC p.C465T Missense 10/63 - 1
11-108121588-C-T c.1396C>T p.Q466* Nonsense 10/63 - 3
11-108121588-C-G c.1396C>G p.Q466E Missense 10/63 - 1
11-108121593-C-CT c.1401_1402insT p.K468* Nonsense 10/63 - 1
11-108121594-CAA-C c.1402_1403del p.K468Efs*18 Frameshift 10/63 - 20
11-108121594-A-T c.1402A>T p.K468* Nonsense 10/63 - 1
11-108121594-CAAGAG-C c.1402_1406del p.K468Vfs*17 Frameshift 10/63 - 1
11-108121601-C-A c.1409C>A p.S470* Nonsense 10/63 - 1
11-108121601-C-G c.1409C>G p.S470* Nonsense 10/63 - 1
11-108121601-C-T c.1409C>T p.S470L Missense 10/63 - 1
11-108121602-A-T c.1410A>T p.S470= Synonymous 10/63 - 1
11-108121602-A-G c.1410A>G p.S470= Synonymous 10/63 - 1
11-108121602-A-C c.1410A>C p.S470= Synonymous 10/63 - 1
11-108121606-C-CT c.1415dup p.E473Rfs*14 Frameshift 10/63 - 1
11-108121608-A-T c.1416A>T p.L472= Synonymous 10/63 - 2
11-108121612-AGC-CAA c.1420_1422delinsCAA p.S474Q Missense 10/63 - 1
11-108121612-AG-GC c.1420_1421delinsGC p.S474A Missense 10/63 - 2
11-108121615-T-G c.1423T>G p.S475A Missense 10/63 - 1
11-108121616-C-T c.1424C>T p.S475L Missense 10/63 - 1
11-108121618-CA-GC c.1426_1427delinsGC p.Q476A Missense 10/63 - 1
11-108121621-A-G c.1429A>G p.K477E Missense 10/63 - 1
11-108121621-AA-GC c.1429_1430delinsGC p.K477A Missense 10/63 - 1
11-108121624-T-C c.1432T>C p.S478P Missense 10/63 - 1
11-108121624-TCA-GAC c.1432_1434delinsGAC p.S478D Missense 10/63 - 1
11-108121624-T-G c.1432T>G p.S478A Missense 10/63 - 1
11-108121624-TC-GT c.1432_1433delinsGT p.S478V Missense 10/63 - 1
11-108121627-GA-AC c.1435_1436delinsAC p.D479T Missense 10/63 - 1
11-108121627-G-T c.1435G>T p.D479Y Missense 10/63 - 1
11-108121632-A-T c.1440A>T p.L480F Missense 10/63 - 1
11-108121632-A-C c.1440A>C p.L480F Missense 10/63 - 2
11-108121634-T-A c.1442T>A p.L481* Nonsense 10/63 - 1
11-108121634-T-G c.1442T>G p.L481* Nonsense 10/63 - 1
11-108121636-A-C c.1444A>C p.K482Q Missense 10/63 - 4
11-108121636-AA-GC c.1444_1445delinsGC p.K482A Missense 10/63 - 1
11-108121639-CT-TA c.1447_1448delinsTA p.L483Y Missense 10/63 - 12
11-108121639-CT-TG c.1447_1448delinsTG p.L483C Missense 10/63 - 1
11-108121646-A-T c.1454A>T p.N485I Missense 10/63 - 1
11-108121652-TT-GG c.1460_1461delinsGG p.I487R Missense 10/63 - 1
11-108121655-G-A c.1463G>A p.W488* Nonsense 10/63 - 3
11-108121656-G-A c.1464G>A p.W488* Nonsense 10/63 - 2
11-108121656-G-C c.1464G>C p.W488C Missense 10/63 - 1
11-108121656-G-T c.1464G>T p.W488C Missense 10/63 - 2
11-108121657-TG-AC c.1465_1466delinsAC p.C489T Missense 10/63 - 1
11-108121661-T-C c.1469T>C p.I490T Missense 10/63 - 1
11-108121663-A-G c.1471A>G p.T491A Missense 10/63 - 1
11-108121665-C-CT c.1476dup p.R493Sfs*6 Frameshift 10/63 - 1
11-108121669-C-T c.1477C>T p.R493C Missense 10/63 - 2
11-108121669-C-G c.1477C>G p.R493G Missense 10/63 - 1
11-108121672-G-T c.1480G>T p.G494C Missense 10/63 - 1
11-108121673-G-A c.1481G>A p.G494D Missense 10/63 - 2
11-108121673-G-T c.1481G>T p.G494V Missense 10/63 - 2
11-108121678-AG-TA c.1486_1487delinsTA p.S496Y Missense 10/63 - 1
11-108121680-T-C c.1488T>C p.S496= Synonymous 10/63 - 1
11-108121680-T-G c.1488T>G p.S496R Missense 10/63 - 1
11-108121682-C-G c.1490C>G p.S497C Missense 10/63 - 1
11-108121687-C-G c.1495C>G p.Q499E Missense 10/63 - 1
11-108121687-C-T c.1495C>T p.Q499* Nonsense 10/63 - 1
11-108121691-T-C c.1499T>C p.I500T Missense 10/63 - 1
11-108121692-A-G c.1500A>G p.I500M Missense 10/63 - 1
11-108121693-C-T c.1501C>T p.Q501* Nonsense 10/63 - 5
11-108121693-C-A c.1501C>A p.Q501K Missense 10/63 - 1
11-108121697-C-A c.1505C>A p.A502D Missense 10/63 - 1
11-108121699-G-T c.1507G>T p.E503* Nonsense 10/63 - 1
11-108121702-AAACTTTG-A c.1510_1516del p.N504Afs*6 Frameshift 10/63 - 1
11-108121703-A-G c.1511A>G p.N504S Missense 10/63 - 1
11-108121706-T-C c.1514T>C p.F505S Missense 10/63 - 1
11-108121708-G-T c.1516G>T p.G506C Missense 10/63 - 5
11-108121708-GG-TT c.1516_1517delinsTT p.G506F Missense 10/63 - 1
11-108121714-C-T c.1522C>T p.L508F Missense 10/63 - 1
11-108121714-CT-C c.1524del p.G509Efs*3 Frameshift 10/63 - 1
11-108121717-G-T c.1525G>T p.G509* Nonsense 10/63 - 2
11-108121720-G-T c.1528G>T p.A510S Missense 10/63 - 1
11-108121721-C-A c.1529C>A p.A510D Missense 10/63 - 1
11-108121729-C-T c.1537C>T p.Q513* Nonsense 10/63 - 4
11-108121730-A-G c.1538A>G p.Q513R Missense 10/63 - 2
11-108121731-G-A c.1539G>A p.Q513= Synonymous 10/63 - 1
11-108121732-G-A c.1540G>A p.G514S Missense 10/63 - 1
11-108121733-G-A c.1541G>A p.G514D Missense 10/63 - 7
11-108121733-G-C c.1541G>C p.G514A Missense 10/63 - 1
11-108121735-AG-GC c.1543_1544delinsGC p.S515A Missense 10/63 - 1
11-108121740-A-C c.1548A>C p.L516F Missense 10/63 - 1
11-108121741-G-A c.1549G>A p.V517I Missense 10/63 - 1
11-108121742-T-A c.1550T>A p.V517D Missense 10/63 - 1
11-108121741-G-GT c.1551dup p.E518* Nonsense 10/63 - 1
11-108121744-G-A c.1552G>A p.E518K Missense 10/63 - 1
11-108121747-G-A c.1555G>A p.V519I Missense 10/63 - 2
11-108121748-T-C c.1556T>C p.V519A Missense 10/63 - 1
11-108121750-G-C c.1558G>C p.D520H Missense 10/63 - 1
11-108121753-A-T c.1561A>T p.R521* Nonsense 10/63 - 2
11-108121753-AGA-TGT c.1561_1563delinsTGT p.R521C Missense 10/63 - 1
11-108121755-A-AT c.1563_1564insT p.E522* Nonsense 10/63 - 2
11-108121756-G-T c.1564G>T p.E522* Nonsense 10/63 - 1
11-108121752-CAG-C c.1564_1565del p.E522Ifs*43 Frameshift 10/63 - 21
11-108121756-G-A c.1564G>A p.E522K Missense 10/63 - 1
11-108121756-GA-AT c.1564_1565delinsAT p.E522I Missense 10/63 - 1
11-108121756-AG-A c.1564del p.E522Nfs*21 Frameshift 10/63 - 1
11-108121757-A-T c.1565A>T p.E522V Missense 10/63 - 1
11-108121758-AAT-A c.1566_1567del p.E522Dfs*43 Frameshift 10/63 - 1
11-108121762-T-G c.1570T>G p.W524G Missense 10/63 - 1
11-108121768-T-G c.1576T>G p.L526V Missense 10/63 - 1
11-108121771-TT-GC c.1579_1580delinsGC p.F527A Missense 10/63 - 1
11-108121771-T-C c.1579T>C p.F527L Missense 10/63 - 1
11-108121777-G-C c.1585G>C p.G529R Missense 10/63 - 1
11-108121777-G-A c.1585G>A p.G529R Missense 10/63 - 1
11-108121776-TG-T c.1587del p.S530Qfs*13 Frameshift 10/63 - 1
11-108121784-C-T c.1592C>T p.A531V Missense 10/63 - 1
11-108121787-G-A c.1595G>A p.C532Y Missense 10/63 - 10
11-108121787-G-T c.1595G>T p.C532F Missense 10/63 - 3
11-108121789-AG-GC c.1597_1598delinsGC p.R533A Missense 10/63 - 1
11-108121789-AG-CA c.1597_1598delinsCA p.R533Q Missense 10/63 - 1
11-108121789-A-G c.1597A>G p.R533G Missense 10/63 - 1
11-108121792-C-G c.1600C>G p.P534A Missense 10/63 - 1
11-108121793-C-G c.1601C>G p.P534R Missense 10/63 - 2
11-108121793-C-T c.1601C>T p.P534L Missense 10/63 - 1
11-108121795-T-G c.1603T>G p.S535A Missense 10/63 - 1
11-108121800-G-T c.1607+1G>T - IntronicSNV - 10/62 2
11-108121800-G-A c.1607+1G>A - IntronicSNV - 10/62 1
11-108122563-G-GT c.1608dup p.P537Sfs*29 SpliceAcceptorInsertion 11/63 - 1
11-108122561-TAGTCCTGC-T c.1609_1616del p.P537Mfs*26 SpliceAcceptorDeletion 11/63 - 1
11-108122575-G-A c.1619G>A p.C540Y Missense 11/63 - 4
11-108122577-TG-AC c.1621_1622delinsAC p.C541T Missense 11/63 - 1
11-108122581-T-G c.1625T>G p.L542W Missense 11/63 - 1
11-108122583-A-G c.1627A>G p.T543A Missense 11/63 - 3
11-108122584-C-T c.1628C>T p.T543I Missense 11/63 - 1
11-108122592-C-G c.1636C>G p.L546V Missense 11/63 - 6
11-108122592-C-T c.1636C>T p.L546= Synonymous 11/63 - 1
11-108122598-A-G c.1642A>G p.T548A Missense 11/63 - 1
11-108122601-A-T c.1645A>T p.S549C Missense 11/63 - 1
11-108122607-GTT-TAA c.1651_1653delinsTAA p.V551* Nonsense 11/63 - 1
11-108122607-G-A c.1651G>A p.V551I Missense 11/63 - 1
11-108122611-C-G c.1655C>G p.P552R Missense 11/63 - 1
11-108122609-TC-T c.1655del p.P552Qfs*4 Frameshift 11/63 - 1
11-108122613-G-T c.1657G>T p.G553* Nonsense 11/63 - 1
11-108122616-A-G c.1660A>G p.T554A Missense 11/63 - 1
11-108122617-C-T c.1661C>T p.T554M Missense 11/63 - 3
11-108122617-C-A c.1661C>A p.T554K Missense 11/63 - 1
11-108122623-A-G c.1667A>G p.K556R Missense 11/63 - 1
11-108122625-A-G c.1669A>G p.M557V Missense 11/63 - 1
11-108122628-G-A c.1672G>A p.G558R Missense 11/63 - 2
11-108122634-G-A c.1678G>A p.E560K Missense 11/63 - 1
11-108122637-CA-C c.1685del p.N562Ifs*5 Frameshift 11/63 - 1
11-108122644-T-A c.1688T>A p.M563K Missense 11/63 - 1
11-108122647-G-C c.1691G>C p.C564S Missense 11/63 - 3
11-108122646-T-A c.1690T>A p.C564S Missense 11/63 - 3
11-108122648-T-A c.1692T>A p.C564* Nonsense 11/63 - 1
11-108122655-A-G c.1699A>G p.N567D Missense 11/63 - 1
11-108122658-A-T c.1702A>T p.R568* Nonsense 11/63 - 1
11-108122659-G-A c.1703G>A p.R568K Missense 11/63 - 3
11-108122659-G-T c.1703G>T p.R568I Missense 11/63 - 3
11-108122661-AG-GC c.1705_1706delinsGC p.S569A Missense 11/63 - 1
11-108122661-AAG-A c.1705_1706del p.S569Lfs*19 Frameshift 11/63 - 1
11-108122665-T-C c.1709T>C p.F570S Missense 11/63 - 1
11-108122668-C-T c.1712C>T p.S571F Missense 11/63 - 1
11-108122671-TA-T c.1718del p.K573Rfs*4 Frameshift 11/63 - 1
11-108122680-C-T c.1724C>T p.S575L Missense 11/63 - 1
11-108122682-A-G c.1726A>G p.I576V Missense 11/63 - 1
11-108122683-T-C c.1727T>C p.I576T Missense 11/63 - 3
11-108122683-T-A c.1727T>A p.I576K Missense 11/63 - 2
11-108122687-G-GT c.1731_1732insT p.K578* Nonsense 11/63 - 1
11-108122692-G-A c.1736G>A p.W579* Nonsense 11/63 - 1
11-108122693-G-A c.1737G>A p.W579* Nonsense 11/63 - 1
11-108122697-CTT-C c.1741_1742del p.L581Ifs*7 Frameshift 11/63 - 3
11-108122697-T-G c.1741T>G p.L581V Missense 11/63 - 3
11-108122700-T-C c.1744T>C p.F582L Missense 11/63 - 10
11-108122702-C-A c.1746C>A p.F582L Missense 11/63 - 1
11-108122702-C-G c.1746C>G p.F582L Missense 11/63 - 1
11-108122702-C-T c.1746C>T p.F582= Synonymous 11/63 - 1
11-108122704-A-G c.1748A>G p.Y583C Missense 11/63 - 2
11-108122706-C-T c.1750C>T p.Q584* Nonsense 11/63 - 2
11-108122710-T-C c.1754T>C p.L585S Missense 11/63 - 1
11-108122714-G-T c.1758G>T p.E586D Missense 11/63 - 1
11-108122724-G-A c.1768G>A p.E590K Missense 11/63 - 1
11-108122730-A-G c.1774A>G p.S592G Missense 11/63 - 1
11-108122730-TAGCACAGAAGTGCCTCCAATTCTTCACAGGTAA-T c.1774_1802+4del - SpliceDonorDeletion 11/63 11/62 1
11-108122740-T-C c.1784T>C p.V595A Missense 11/63 - 1
11-108122740-T-A c.1784T>A p.V595E Missense 11/63 - 1
11-108122746-C-T c.1790C>T p.P597L Missense 11/63 - 2
11-108122746-C-A c.1790C>A p.P597Q Missense 11/63 - 1
11-108122746-CA-AT c.1790_1791delinsAT p.P597H Missense 11/63 - 1
11-108122749-T-C c.1793T>C p.I598T Missense 11/63 - 1
11-108122751-C-G c.1795C>G p.L599V Missense 11/63 - 1
11-108122751-C-CT c.1797dup p.H600Sfs*3 Frameshift 11/63 - 1
11-108122754-C-G c.1798C>G p.H600D Missense 11/63 - 1
11-108122756-C-T c.1800C>T p.H600= Synonymous 11/63 - 2
11-108122757-A-G c.1801A>G p.S601G Missense 11/63 - 1
11-108122758-G-A c.1802G>A p.S601N Missense 11/63 - 1
11-108122823-T-C c.1802+65T>C - IntronicSNV - 11/62 1
11-108122856-A-C c.1802+98A>C - IntronicSNV - 11/62 1
11-108122856-A-G c.1802+98A>G - IntronicSNV - 11/62 1
11-108123189-C-A c.1803-355C>A - IntronicSNV - 11/62 7
11-108123189-C-T c.1803-355C>T - IntronicSNV - 11/62 7
11-108123545-A-G c.1804A>G p.N602D Missense 12/63 - 1
11-108123548-T-A c.1807T>A p.F603I Missense 12/63 - 1
11-108123551-C-T c.1810C>T p.P604S Missense 12/63 - 31
11-108123550-TC-T c.1811del p.P604Lfs*10 Frameshift 12/63 - 2
11-108123554-TC-T c.1813del p.H605Ifs*9 Frameshift 12/63 - 1
11-108123555-A-G c.1814A>G p.H605R Missense 12/63 - 1
11-108123557-CT-GC c.1816_1817delinsGC p.L606A Missense 12/63 - 1
11-108123557-C-T c.1816C>T p.L606F Missense 12/63 - 1
11-108123557-TC-T c.1816del p.V607Yfs*7 Frameshift 12/63 - 1
11-108123560-G-C c.1819G>C p.V607L Missense 12/63 - 1
11-108123560-G-T c.1819G>T p.V607L Missense 12/63 - 1
11-108123561-T-A c.1820T>A p.V607E Missense 12/63 - 1
11-108123570-A-C c.1829A>C p.K610T Missense 12/63 - 1
11-108123571-A-C c.1830A>C p.K610N Missense 12/63 - 1
11-108123571-A-T c.1830A>T p.K610N Missense 12/63 - 1
11-108123573-T-G c.1832T>G p.I611S Missense 12/63 - 1
11-108123573-T-A c.1832T>A p.I611N Missense 12/63 - 1
11-108123575-C-A c.1834C>A p.L612I Missense 12/63 - 2
11-108123575-C-T c.1834C>T p.L612F Missense 12/63 - 1
11-108123578-TGTG-T c.1837_1839del p.V613del InFrameDeletion 12/63 - 1
11-108123578-G-C c.1837G>C p.V613L Missense 12/63 - 2
11-108123578-G-T c.1837G>T p.V613L Missense 12/63 - 4
11-108123582-G-C c.1841G>C p.S614T Missense 12/63 - 1
11-108123584-C-A c.1843C>A p.L615I Missense 12/63 - 1
11-108123585-T-C c.1844T>C p.L615P Missense 12/63 - 1
11-108123586-C-A c.1845C>A p.L615= Synonymous 12/63 - 1
11-108123586-C-G c.1845C>G p.L615= Synonymous 12/63 - 1
11-108123587-A-G c.1846A>G p.T616A Missense 12/63 - 3
11-108123588-C-T c.1847C>T p.T616I Missense 12/63 - 2
11-108123593-AA-GC c.1852_1853delinsGC p.K618A Missense 12/63 - 1
11-108123597-A-G c.1856A>G p.N619S Missense 12/63 - 1
11-108123599-T-C c.1858T>C p.C620R Missense 12/63 - 1
11-108123603-A-G c.1862A>G p.K621R Missense 12/63 - 3
11-108123604-A-G c.1863A>G p.K621= Synonymous 12/63 - 1
11-108123605-G-A c.1864G>A p.A622T Missense 12/63 - 4
11-108123608-G-T c.1867G>T p.A623S Missense 12/63 - 1
11-108123609-C-A c.1868C>A p.A623E Missense 12/63 - 2
11-108123615-A-AT c.1880dup p.Q628Pfs*7 Frameshift 12/63 - 1
11-108123621-T-G c.1880T>G p.F627C Missense 12/63 - 1
11-108123623-C-T c.1882C>T p.Q628* Nonsense 12/63 - 2
11-108123624-A-G c.1883A>G p.Q628R Missense 12/63 - 1
11-108123623-CA-C c.1885del p.S629Afs*20 Frameshift 12/63 - 1
11-108123629-G-A c.1888G>A p.V630M Missense 12/63 - 3
11-108123629-G-C c.1888G>C p.V630L Missense 12/63 - 1
11-108123635-G-A c.1894G>A p.E632K Missense 12/63 - 1
11-108123635-G-T c.1894G>T p.E632* Nonsense 12/63 - 1
11-108123639-G-A c.1898G>A p.C633Y Missense 12/63 - 1
11-108123641-T-A c.1898+2T>A - IntronicSNV - 12/62 1
11-108123641-T-C c.1898+2T>C - IntronicSNV - 12/62 1
11-108123641-T-G c.1898+2T>G - IntronicSNV - 12/62 2
11-108124418-A-G c.1899-123A>G - IntronicSNV - 12/62 1
11-108124486-T-A c.1899-55T>A - IntronicSNV - 12/62 2
11-108124486-T-G c.1899-55T>G - IntronicSNV - 12/62 2
11-108124540-G-GT c.1899dup p.E634* SpliceAcceptorInsertion 13/63 - 1
11-108124545-C-T c.1903C>T p.H635Y Missense 13/63 - 1
11-108124552-A-G c.1910A>G p.Q637R Missense 13/63 - 1
11-108124556-A-T c.1914A>T p.K638N Missense 13/63 - 1
11-108124556-A-C c.1914A>C p.K638N Missense 13/63 - 1
11-108124557-AG-A c.1915del p.D639Ifs*10 Frameshift 13/63 - 1
11-108124557-G-GT c.1915_1916insT p.D639Vfs*2 Frameshift 13/63 - 1
11-108124560-A-T c.1918A>T p.K640* Nonsense 13/63 - 3
11-108124566-G-C c.1924G>C p.E642Q Missense 13/63 - 1
11-108124566-G-T c.1924G>T p.E642* Nonsense 13/63 - 2
11-108124560-AAAG-A c.1924_1926del p.E642del InFrameDeletion 13/63 - 1
11-108124568-A-AG c.1926_1927insG p.L643Afs*16 Frameshift 13/63 - 1
11-108124572-T-G c.1930T>G p.S644A Missense 13/63 - 1
11-108124573-C-A c.1931C>A p.S644* Nonsense 13/63 - 4
11-108124573-C-G c.1931C>G p.S644* Nonsense 13/63 - 2
11-108124575-T-C c.1933T>C p.F645L Missense 13/63 - 1
11-108124577-C-T c.1935C>T p.F645= Synonymous 13/63 - 1
11-108124578-T-C c.1936T>C p.S646P Missense 13/63 - 1
11-108124579-C-A c.1937C>A p.S646* Nonsense 13/63 - 1
11-108124579-C-G c.1937C>G p.S646* Nonsense 13/63 - 1
11-108124581-G-A c.1939G>A p.E647K Missense 13/63 - 1
11-108124582-A-G c.1940A>G p.E647G Missense 13/63 - 1
11-108124587-G-A c.1945G>A p.E649K Missense 13/63 - 1
11-108124590-G-T c.1948G>T p.E650* Nonsense 13/63 - 1
11-108124593-C-G c.1951C>G p.L651V Missense 13/63 - 1
11-108124594-T-C c.1952T>C p.L651P Missense 13/63 - 1
11-108124595-A-G c.1953A>G p.L651= Synonymous 13/63 - 1
11-108124596-T-G c.1954T>G p.F652V Missense 13/63 - 1
11-108124597-T-C c.1955T>C p.F652S Missense 13/63 - 2
11-108124599-C-A c.1957C>A p.L653I Missense 13/63 - 1
11-108124602-C-A c.1960C>A p.Q654K Missense 13/63 - 3
11-108124603-CA-C c.1961del p.Q654Rfs*10 Frameshift 13/63 - 1
11-108124605-A-T c.1963A>T p.T655S Missense 13/63 - 1
11-108124606-CA-AC c.1964_1965delinsAC p.T655N Missense 13/63 - 1
11-108124608-A-G c.1966A>G p.T656A Missense 13/63 - 1
11-108124614-G-T c.1972G>T p.D658Y Missense 13/63 - 1
11-108124620-GA-G c.1978del p.M660Wfs*4 Frameshift 13/63 - 1
11-108124624-A-C c.1982A>C p.D661A Missense 13/63 - 1
11-108124627-T-C c.1985T>C p.F662S Missense 13/63 - 1
11-108124628-T-C c.1986T>C p.F662= Synonymous 13/63 - 3
11-108124629-T-TTC c.1988_1989insCT p.L663Ffs*2 Frameshift 13/63 - 1
11-108124635-A-G c.1993A>G p.I665V Missense 13/63 - 1
11-108124638-GTG-TGT c.1996_1998delinsTGT p.V666C Missense 13/63 - 2
11-108124639-GT-G c.1997del p.V666Gfs*6 Frameshift 13/63 - 1
11-108124640-G-C c.1998G>C p.V666= Synonymous 13/63 - 1
11-108124640-G-T c.1998G>T p.V666= Synonymous 13/63 - 1
11-108124642-G-A c.2000G>A p.R667K Missense 13/63 - 1
11-108124644-G-T c.2002G>T p.E668* Nonsense 13/63 - 1
11-108124652-T-TA c.2011dup p.I671Nfs*34 Frameshift 13/63 - 1
11-108124654-T-A c.2012T>A p.I671K Missense 13/63 - 1
11-108124663-A-G c.2021A>G p.H674R Missense 13/63 - 2
11-108124664-C-A c.2022C>A p.H674Q Missense 13/63 - 1
11-108124665-C-T c.2023C>T p.Q675* Nonsense 13/63 - 3
11-108124668-TCC-CAA c.2026_2028delinsCAA p.S676Q Missense 13/63 - 1
11-108124668-T-G c.2026T>G p.S676A Missense 13/63 - 1
11-108124671-AG-GC c.2029_2030delinsGC p.S677A Missense 13/63 - 1
11-108124673-GTATTGGCTTCTCTGTCCACCA-G c.2031_2051del p.S677_Q684delinsR MultiAAMissense 13/63 - 1
11-108124678-G-C c.2036G>C p.G679A Missense 13/63 - 1
11-108124687-T-C c.2045T>C p.V682A Missense 13/63 - 1
11-108124691-C-A c.2049C>A p.H683Q Missense 13/63 - 1
11-108124691-C-G c.2049C>G p.H683Q Missense 13/63 - 1
11-108124693-A-G c.2051A>G p.Q684R Missense 13/63 - 1
11-108124695-A-C c.2053A>C p.N685H Missense 13/63 - 1
11-108124698-C-A c.2056C>A p.L686I Missense 13/63 - 1
11-108124699-T-A c.2057T>A p.L686H Missense 13/63 - 1
11-108124710-C-G c.2068C>G p.L690V Missense 13/63 - 1
11-108124713-GGAT-G c.2071_2073del p.D691del InFrameDeletion 13/63 - 1
11-108124713-G-C c.2071G>C p.D691H Missense 13/63 - 1
11-108124713-G-A c.2071G>A p.D691N Missense 13/63 - 1
11-108124716-C-T c.2074C>T p.R692C Missense 13/63 - 2
11-108124716-C-A c.2074C>A p.R692S Missense 13/63 - 1
11-108124720-G-A c.2078G>A p.C693Y Missense 13/63 - 1
11-108124722-C-T c.2080C>T p.L694F Missense 13/63 - 1
11-108124723-T-C c.2081T>C p.L694P Missense 13/63 - 1
11-108124723-T-G c.2081T>G p.L694R Missense 13/63 - 1
11-108124726-T-C c.2084T>C p.L695P Missense 13/63 - 2
11-108124728-G-T c.2086G>T p.G696* Nonsense 13/63 - 3
11-108124728-G-A c.2086G>A p.G696R Missense 13/63 - 1
11-108124729-G-A c.2087G>A p.G696E Missense 13/63 - 2
11-108124730-GATTATCAGAACAGCTTCTGAATAATTA-G c.2088_2114del p.L697_Y705del InFrameDeletion 13/63 - 1
11-108124734-T-G c.2092T>G p.S698A Missense 13/63 - 3
11-108124735-CA-TT c.2093_2094delinsTT p.S698F Missense 13/63 - 1
11-108124737-G-C c.2095G>C p.E699Q Missense 13/63 - 2
11-108124738-A-G c.2096A>G p.E699G Missense 13/63 - 3
11-108124740-C-A c.2098C>A p.Q700K Missense 13/63 - 1
11-108124740-C-T c.2098C>T p.Q700* Nonsense 13/63 - 2
11-108124740-CA-GC c.2098_2099delinsGC p.Q700A Missense 13/63 - 1
11-108124744-T-A c.2102T>A p.L701H Missense 13/63 - 5
11-108124747-TG-AT c.2105_2106delinsAT p.L702H Missense 13/63 - 14
11-108124755-T-A c.2113T>A p.Y705N Missense 13/63 - 1
11-108124756-A-T c.2114A>T p.Y705F Missense 13/63 - 1
11-108124759-C-T c.2117C>T p.S706L Missense 13/63 - 2
11-108124759-C-G c.2117C>G p.S706* Nonsense 13/63 - 1
11-108124761-T-C c.2119T>C p.S707P Missense 13/63 - 35
11-108124761-T-G c.2119T>G p.S707A Missense 13/63 - 1
11-108124761-TC-AA c.2119_2120delinsAA p.S707N Missense 13/63 - 1
11-108124759-CATCTG-C c.2119_2123del p.S707Dfs*29 SpliceDonorDeletion 13/63 - 1
11-108124761-T-TAA c.2119_2120insAA p.S707* Nonsense 13/63 - 1
11-108124762-C-A c.2120C>A p.S707Y Missense 13/63 - 2
11-108124762-C-T c.2120C>T p.S707F Missense 13/63 - 1
11-108124762-TC-T c.2120del p.S707Lfs*28 Frameshift 13/63 - 1
11-108124764-G-C c.2122G>C p.E708Q Missense 13/63 - 1
11-108124764-G-A c.2122G>A p.E708K Missense 13/63 - 1
11-108124767-G-A c.2124+1G>A - IntronicSNV - 13/62 2
11-108126854-T-A c.2125-88T>A - IntronicSNV - 13/62 1
11-108126874-T-C c.2125-68T>C - IntronicSNV - 13/62 1
11-108126894-T-C c.2125-48T>C - IntronicSNV - 13/62 1
11-108126942-A-C c.2125A>C p.I709L Missense 14/63 - 1
11-108126944-T-C c.2127T>C p.I709= Synonymous 14/63 - 3
11-108126950-ATTCAG-A c.2133_2137del p.N711Kfs*25 Frameshift 14/63 - 1
11-108126951-T-G c.2134T>G p.S712A Missense 14/63 - 1
11-108126952-C-G c.2135C>G p.S712* Nonsense 14/63 - 2
11-108126954-GA-AC c.2137_2138delinsAC p.E713T Missense 14/63 - 2
11-108126960-C-G c.2143C>G p.L715V Missense 14/63 - 2
11-108126961-T-G c.2144T>G p.L715R Missense 14/63 - 1
11-108126963-GTC-ATG c.2146_2148delinsATG p.V716M Missense 14/63 - 6
11-108126963-G-A c.2146G>A p.V716I Missense 14/63 - 1
11-108126966-C-T c.2149C>T p.R717W Missense 14/63 - 6
11-108126967-G-A c.2150G>A p.R717Q Missense 14/63 - 2
11-108126967-G-T c.2150G>T p.R717L Missense 14/63 - 2
11-108126968-G-GT c.2152dup p.C718Lfs*20 Frameshift 14/63 - 1
11-108126972-TC-GG c.2155_2156delinsGG p.S719G Missense 14/63 - 1
11-108126975-AC-A c.2158del p.R720Vfs*15 Frameshift 14/63 - 1
11-108126976-GT-AA c.2159_2160delinsAA p.R720Q Missense 14/63 - 1
11-108126976-G-A c.2159G>A p.R720H Missense 14/63 - 6
11-108126978-CTT-ATG c.2161_2163delinsATG p.L721M Missense 14/63 - 1
11-108126981-T-C c.2164T>C p.L722= Synonymous 14/63 - 1
11-108126978-C-CT c.2165dup p.L722Ffs*16 Frameshift 14/63 - 1
11-108126985-T-G c.2168T>G p.V723G Missense 14/63 - 1
11-108126987-G-T c.2170G>T p.G724C Missense 14/63 - 1
11-108126988-G-A c.2171G>A p.G724D Missense 14/63 - 1
11-108126993-C-A c.2176C>A p.L726I Missense 14/63 - 1
11-108126991-TC-T c.2176del p.G727Afs*8 Frameshift 14/63 - 1
11-108126996-G-A c.2179G>A p.G727S Missense 14/63 - 1
11-108126997-G-C c.2180G>C p.G727A Missense 14/63 - 1
11-108126997-G-T c.2180G>T p.G727V Missense 14/63 - 1
11-108126999-TGC-G c.2182_2184delinsG p.C728Vfs*9 Frameshift 14/63 - 1
11-108127006-G-A c.2189G>A p.C730Y Missense 14/63 - 1
11-108127007-T-A c.2190T>A p.C730* Nonsense 14/63 - 1
11-108127009-A-T c.2192A>T p.Y731F Missense 14/63 - 1
11-108127008-T-TA c.2192dup p.Y731* Nonsense 14/63 - 3
11-108127009-A-G c.2192A>G p.Y731C Missense 14/63 - 1
11-108127010-C-T c.2193C>T p.Y731= Synonymous 14/63 - 2
11-108127017-G-C c.2200G>C p.V734L Missense 14/63 - 1
11-108127018-T-TC c.2201_2202insC p.I735Nfs*3 Frameshift 14/63 - 1
11-108127018-T-TA c.2203dup p.I735Nfs*3 Frameshift 14/63 - 1
11-108127022-TA-T c.2205del p.I735Mfs*18 Frameshift 14/63 - 1
11-108127027-A-G c.2210A>G p.E737G Missense 14/63 - 1
11-108127035-G-C c.2218G>C p.A740P Missense 14/63 - 1
11-108127037-A-C c.2220A>C p.A740= Synonymous 14/63 - 1
11-108127039-A-G c.2222A>G p.Y741C Missense 14/63 - 2
11-108127043-G-T c.2226G>T p.K742N Missense 14/63 - 1
11-108127044-T-G c.2227T>G p.S743A Missense 14/63 - 1
11-108127044-TC-GG c.2227_2228delinsGG p.S743G Missense 14/63 - 1
11-108127045-C-A c.2228C>A p.S743* Nonsense 14/63 - 3
11-108127045-C-G c.2228C>G p.S743* Nonsense 14/63 - 2
11-108127053-T-C c.2236T>C p.F746L Missense 14/63 - 1
11-108127055-C-A c.2238C>A p.F746L Missense 14/63 - 1
11-108127055-C-G c.2238C>G p.F746L Missense 14/63 - 1
11-108127059-A-T c.2242A>T p.K748* Nonsense 14/63 - 1
11-108127060-A-C c.2243A>C p.K748T Missense 14/63 - 1
11-108127062-G-A c.2245G>A p.A749T Missense 14/63 - 1
11-108127065-CAAG-C c.2248_2250del p.K750del InFrameDeletion 14/63 - 2
11-108127067-G-A c.2250G>A p.K750= Synonymous 14/63 - 18
11-108127069-T-A c.2250+2T>A - IntronicSNV - 14/62 1
11-108128198-T-G c.2251-10T>G - IntronicSNV - 14/62 2
11-108128208-T-C c.2251T>C p.S751P Missense 15/63 - 1
11-108128209-CT-AA c.2252_2253delinsAA p.S751* Nonsense 15/63 - 1
11-108128212-T-C c.2255T>C p.L752P Missense 15/63 - 1
11-108128215-T-C c.2258T>C p.M753T Missense 15/63 - 1
11-108128217-C-T c.2260C>T p.Q754* Nonsense 15/63 - 1
11-108128217-C-A c.2260C>A p.Q754K Missense 15/63 - 1
11-108128221-G-A c.2264G>A p.C755Y Missense 15/63 - 1
11-108128226-G-T c.2269G>T p.G757* Nonsense 15/63 - 1
11-108128226-G-A c.2269G>A p.G757R Missense 15/63 - 1
11-108128227-G-A c.2270G>A p.G757E Missense 15/63 - 1
11-108128232-A-G c.2275A>G p.S759G Missense 15/63 - 1
11-108128233-G-A c.2276G>A p.S759N Missense 15/63 - 2
11-108128235-A-C c.2278A>C p.I760L Missense 15/63 - 1
11-108128235-AT-TG c.2278_2279delinsTG p.I760C Missense 15/63 - 1
11-108128237-C-G c.2280C>G p.I760M Missense 15/63 - 1
11-108128238-ACT-A c.2284_2285del p.L762Vfs*2 Frameshift 15/63 - 8
11-108128244-T-C c.2287T>C p.F763L Missense 15/63 - 1
11-108128246-T-G c.2289T>G p.F763L Missense 15/63 - 1
11-108128246-T-C c.2289T>C p.F763= Synonymous 15/63 - 1
11-108128246-T-A c.2289T>A p.F763L Missense 15/63 - 8
11-108128243-GT-G c.2289del p.F763Lfs*14 Frameshift 15/63 - 1
11-108128246-T-TA c.2294dup p.N765Kfs*2 Frameshift 15/63 - 1
11-108128253-A-C c.2296A>C p.K766Q Missense 15/63 - 1
11-108128254-A-G c.2297A>G p.K766R Missense 15/63 - 1
11-108128257-C-G c.2300C>G p.T767R Missense 15/63 - 1
11-108128263-A-G c.2306A>G p.E769G Missense 15/63 - 1
11-108128264-G-T c.2307G>T p.E769D Missense 15/63 - 1
11-108128265-G-T c.2308G>T p.E770* Nonsense 15/63 - 1
11-108128268-T-C c.2311T>C p.F771L Missense 15/63 - 1
11-108128270-C-A c.2313C>A p.F771L Missense 15/63 - 1
11-108128270-C-G c.2313C>G p.F771L Missense 15/63 - 1
11-108128271-A-G c.2314A>G p.R772G Missense 15/63 - 1
11-108128274-A-G c.2317A>G p.I773V Missense 15/63 - 1
11-108128285-G-T c.2328G>T p.L776F Missense 15/63 - 1
11-108128286-A-T c.2329A>T p.R777* Nonsense 15/63 - 1
11-108128287-G-A c.2330G>A p.R777K Missense 15/63 - 1
11-108128289-A-G c.2332A>G p.N778D Missense 15/63 - 1
11-108128290-A-G c.2333A>G p.N778S Missense 15/63 - 1
11-108128293-T-C c.2336T>C p.M779T Missense 15/63 - 1
11-108128296-T-C c.2339T>C p.M780T Missense 15/63 - 1
11-108128298-C-T c.2341C>T p.Q781* Nonsense 15/63 - 1
11-108128304-AT-A c.2347del p.C783Vfs*5 Frameshift 15/63 - 1
11-108128310-C-T c.2353C>T p.R785C Missense 15/63 - 2
11-108128311-G-A c.2354G>A p.R785H Missense 15/63 - 1
11-108128313-TG-AC c.2356_2357delinsAC p.C786T Missense 15/63 - 1
11-108128315-GCT-G c.2358_2359del p.L787Efs*10 Frameshift 15/63 - 1
11-108128319-A-C c.2362A>C p.S788R Missense 15/63 - 1
11-108128324-C-T c.2367C>T p.N789= Synonymous 15/63 - 1
11-108128326-TGTACCA-T c.2369_2374del p.C790_K792delins* MultiAAMissense 15/63 - 1
11-108128332-A-C c.2375A>C p.K792T Missense 15/63 - 1
11-108128333-G-C c.2376G>C p.K792N Missense 15/63 - 2
11-108128333-G-T c.2376G>T p.K792N Missense 15/63 - 2
11-108128334-G-T c.2376+1G>T - IntronicSNV - 15/62 2
11-108128347-CT-C c.2376+16del - IntronicDeletion - 15/62 1
11-108128393-C-A c.2376+60C>A - IntronicSNV - 15/62 1
11-108129599-C-G c.2377-114C>G - IntronicSNV - 15/62 2
11-108129657-A-G c.2377-56A>G - IntronicSNV - 15/62 5
11-108129657-A-T c.2377-56A>T - IntronicSNV - 15/62 5
11-108129707-T-A c.2377-6T>A - IntronicSNV - 15/62 1
11-108129713-AA-GC c.2377_2378delinsGC p.K793A Missense 16/63 - 1
11-108129716-AG-GA c.2380_2381delinsGA p.S794D Missense 16/63 - 1
11-108129716-AG-GC c.2380_2381delinsGC p.S794A Missense 16/63 - 1
11-108129717-G-C c.2381G>C p.S794T Missense 16/63 - 1
11-108129718-TC-T c.2384del p.P795Qfs*13 Frameshift 16/63 - 1
11-108129722-A-T c.2386A>T p.N796Y Missense 16/63 - 1
11-108129723-A-C c.2387A>C p.N796T Missense 16/63 - 1
11-108129724-AT-A c.2388del p.N796Kfs*12 Frameshift 16/63 - 1
11-108129729-T-C c.2393T>C p.I798T Missense 16/63 - 1
11-108129729-T-G c.2393T>G p.I798S Missense 16/63 - 1
11-108129735-C-T c.2399C>T p.S800F Missense 16/63 - 1
11-108129740-T-C c.2404T>C p.F802L Missense 16/63 - 1
11-108129739-CTT-C c.2407_2408del p.F803Pfs*11 Frameshift 16/63 - 1
11-108129744-T-C c.2408T>C p.F803S Missense 16/63 - 1
11-108129746-CTG-TTT c.2410_2412delinsTTT p.L804F Missense 16/63 - 1
11-108129749-C-T c.2413C>T p.R805* Nonsense 16/63 - 20
11-108129749-CG-GA c.2413_2414delinsGA p.R805E Missense 16/63 - 4
11-108129750-GA-AT c.2414_2415delinsAT p.R805H Missense 16/63 - 1
11-108129750-G-A c.2414G>A p.R805Q Missense 16/63 - 3
11-108129753-T-G c.2417T>G p.L806W Missense 16/63 - 1
11-108129754-G-T c.2418G>T p.L806F Missense 16/63 - 1
11-108129754-G-C c.2418G>C p.L806F Missense 16/63 - 1
11-108129756-TA-GG c.2420_2421delinsGG p.L807W Missense 16/63 - 2
11-108129761-T-G c.2425T>G p.S809A Missense 16/63 - 1
11-108129762-C-A c.2426C>A p.S809* Nonsense 16/63 - 4
11-108129762-TCAA-T c.2426_2428del p.S809_K810delins* MultiAAMissense 16/63 - 1
11-108129762-C-G c.2426C>G p.S809* Nonsense 16/63 - 1
11-108129767-CTA-TGG c.2431_2433delinsTGG p.L811W Missense 16/63 - 2
11-108129773-A-C c.2437A>C p.N813H Missense 16/63 - 1
11-108129778-C-A c.2442C>A p.D814E Missense 16/63 - 4
11-108129778-C-G c.2442C>G p.D814E Missense 16/63 - 1
11-108129778-C-T c.2442C>T p.D814= Synonymous 16/63 - 1
11-108129785-G-C c.2449G>C p.D817H Missense 16/63 - 1
11-108129786-A-G c.2450A>G p.D817G Missense 16/63 - 1
11-108129788-A-C c.2452A>C p.I818L Missense 16/63 - 1
11-108129789-ATTTGT-A c.2453_2457del p.I818Kfs*12 Frameshift 16/63 - 1
11-108129789-T-C c.2453T>C p.I818T Missense 16/63 - 1
11-108129791-T-C c.2455T>C p.C819R Missense 16/63 - 1
11-108129798-AG-A c.2462del p.S821Ifs*2 Frameshift 16/63 - 1
11-108129796-AAGTTT-A c.2464_2466+2del - SpliceDonorDeletion 16/63 16/62 1
11-108129801-T-G c.2465T>G p.L822* Nonsense 16/63 - 2
11-108129802-A-G c.2466A>G p.L822= Synonymous 16/63 - 1
11-108129804-T-G c.2466+2T>G - IntronicSNV - 16/62 2
11-108129910-A-G c.2466+108A>G - IntronicSNV - 16/62 1
11-108130712-G-A c.2466+910G>A - IntronicSNV - 16/62 3
11-108130712-G-T c.2466+910G>T - IntronicSNV - 16/62 3
11-108131354-G-C c.2466+1552G>C - IntronicSNV - 16/62 1
11-108131776-C-T c.2466+1974C>T - IntronicSNV - 16/62 1
11-108132445-G-C c.2466+2643G>C - IntronicSNV - 16/62 1
11-108132445-G-T c.2466+2643G>T - IntronicSNV - 16/62 1
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
11-108137898-G-T c.2467G>T p.A823S Missense 17/63 - 1
11-108137901-T-G c.2470T>G p.S824A Missense 17/63 - 7
11-108137901-TC-GA c.2470_2471inv p.S824D Missense 17/63 - 6
11-108137901-T-C c.2470T>C p.S824P Missense 17/63 - 4
11-108137902-C-T c.2471C>T p.S824F Missense 17/63 - 1
11-108137903-C-T c.2472C>T p.S824= Synonymous 17/63 - 2
11-108137903-C-G c.2472C>G p.S824= Synonymous 17/63 - 1
11-108137903-C-A c.2472C>A p.S824= Synonymous 17/63 - 1
11-108137898-GCATCCTT-G c.2472_2478del p.F825Kfs*9 Frameshift 17/63 - 1
11-108137904-T-C c.2473T>C p.F825L Missense 17/63 - 1
11-108137904-T-G c.2473T>G p.F825V Missense 17/63 - 2
11-108137907-A-C c.2476A>C p.I826L Missense 17/63 - 3
11-108137910-A-T c.2479A>T p.K827* Nonsense 17/63 - 2
11-108137912-A-AT c.2481_2482insT p.K828* Nonsense 17/63 - 1
11-108137913-A-T c.2482A>T p.K828* Nonsense 17/63 - 1
11-108137914-A-G c.2483A>G p.K828R Missense 17/63 - 1
11-108137909-CA-C c.2483del p.K828Sfs*8 Frameshift 17/63 - 3
11-108137925-C-T c.2494C>T p.R832C Missense 17/63 - 4
11-108137926-G-A c.2495G>A p.R832H Missense 17/63 - 1
11-108137931-G-A c.2500G>A p.E834K Missense 17/63 - 1
11-108137932-A-T c.2501A>T p.E834V Missense 17/63 - 1
11-108137932-A-G c.2501A>G p.E834G Missense 17/63 - 1
11-108137931-G-GA c.2502dup p.V835Sfs*7 Frameshift 17/63 - 3
11-108137932-AAGTAG-A c.2503_2507del p.V835Ifs*5 Frameshift 17/63 - 2
11-108137934-GT-TC c.2503_2504delinsTC p.V835S Missense 17/63 - 1
11-108137938-A-C c.2507A>C p.E836A Missense 17/63 - 1
11-108137939-A-G c.2508A>G p.E836= Synonymous 17/63 - 1
11-108137937-G-GA c.2508dup p.S837Ifs*5 Frameshift 17/63 - 2
11-108137940-T-G c.2509T>G p.S837A Missense 17/63 - 1
11-108137947-A-C c.2516A>C p.E839A Missense 17/63 - 1
11-108137950-A-G c.2519A>G p.D840G Missense 17/63 - 1
11-108137950-A-T c.2519A>T p.D840V Missense 17/63 - 1
11-108137952-G-T c.2521G>T p.D841Y Missense 17/63 - 1
11-108137953-A-C c.2522A>C p.D841A Missense 17/63 - 2
11-108137956-C-G c.2525C>G p.T842S Missense 17/63 - 1
11-108137956-C-A c.2525C>A p.T842N Missense 17/63 - 1
11-108137956-CT-AG c.2525_2526inv p.T842K Missense 17/63 - 1
11-108137957-T-C c.2526T>C p.T842= Synonymous 17/63 - 1
11-108137962-G-A c.2531G>A p.G844E Missense 17/63 - 2
11-108137963-A-G c.2532A>G p.G844= Synonymous 17/63 - 1
11-108137962-GA-G c.2534del p.N845Ifs*2 Frameshift 17/63 - 2
11-108137967-C-G c.2536C>G p.L846V Missense 17/63 - 2
11-108137973-G-C c.2542G>C p.E848Q Missense 17/63 - 3
11-108137973-G-A c.2542G>A p.E848K Missense 17/63 - 1
11-108137974-GA-G c.2543del p.E848Gfs*8 Frameshift 17/63 - 1
11-108137979-G-T c.2548G>T p.E850* Nonsense 17/63 - 2
11-108137983-A-G c.2552A>G p.D851G Missense 17/63 - 1
11-108137984-T-G c.2553T>G p.D851E Missense 17/63 - 1
11-108137984-T-A c.2553T>A p.D851E Missense 17/63 - 1
11-108137985-C-T c.2554C>T p.Q852* Nonsense 17/63 - 11
11-108137986-A-G c.2555A>G p.Q852R Missense 17/63 - 1
11-108137989-C-A c.2558C>A p.S853* Nonsense 17/63 - 1
11-108137990-A-G c.2559A>G p.S853= Synonymous 17/63 - 1
11-108137991-TC-GA c.2560_2561inv p.S854D Missense 17/63 - 1
11-108137991-TCC-GAG c.2560_2562delinsGAG p.S854E Missense 17/63 - 1
11-108137994-A-C c.2563A>C p.M855L Missense 17/63 - 1
11-108137995-T-C c.2564T>C p.M855T Missense 17/63 - 1
11-108137998-A-T c.2567A>T p.N856I Missense 17/63 - 1
11-108138001-T-G c.2570T>G p.L857R Missense 17/63 - 1
11-108138003-T-C c.2572T>C p.F858L Missense 17/63 - 70
11-108138005-T-A c.2574T>A p.F858L Missense 17/63 - 10
11-108138005-T-G c.2574T>G p.F858L Missense 17/63 - 10
11-108138004-TT-AA c.2573_2574inv p.F858* Nonsense 17/63 - 1
11-108138009-G-A c.2578G>A p.D860N Missense 17/63 - 2
11-108138009-G-C c.2578G>C p.D860H Missense 17/63 - 1
11-108138012-T-C c.2581T>C p.Y861H Missense 17/63 - 1
11-108138013-A-G c.2582A>G p.Y861C Missense 17/63 - 1
11-108138018-G-A c.2587G>A p.D863N Missense 17/63 - 2
11-108138018-G-C c.2587G>C p.D863H Missense 17/63 - 2
11-108138018-GA-CG c.2587_2588delinsCG p.D863R Missense 17/63 - 1
11-108138021-A-G c.2590A>G p.S864G Missense 17/63 - 1
11-108138022-AG-A c.2591del p.S864Ifs*16 Frameshift 17/63 - 1
11-108138025-G-A c.2594G>A p.S865N Missense 17/63 - 1
11-108138027-GT-TG c.2596_2597delinsTG p.V866C Missense 17/63 - 1
11-108138027-GTT-ATG c.2596_2598delinsATG p.V866M Missense 17/63 - 1
11-108138033-G-A c.2602G>A p.D868N Missense 17/63 - 1
11-108138037-C-G c.2606C>G p.A869G Missense 17/63 - 1
11-108138037-C-A c.2606C>A p.A869E Missense 17/63 - 1
11-108138039-A-G c.2608A>G p.N870D Missense 17/63 - 2
11-108138042-G-A c.2611G>A p.E871K Missense 17/63 - 1
11-108138045-C-A c.2614C>A p.P872T Missense 17/63 - 2
11-108138045-C-T c.2614C>T p.P872S Missense 17/63 - 7
11-108138057-C-A c.2626C>A p.Q876K Missense 17/63 - 1
11-108138063-A-G c.2632A>G p.T878A Missense 17/63 - 39
11-108138063-AC-GG c.2632_2633delinsGG p.T878G Missense 17/63 - 1
11-108138064-C-G c.2633C>G p.T878S Missense 17/63 - 2
11-108138063-A-T c.2632A>T p.T878S Missense 17/63 - 2
11-108138066-A-G c.2635A>G p.I879V Missense 17/63 - 1
11-108138070-G-A c.2638+1G>A - IntronicSNV - 17/62 1
11-108138071-T-C c.2638+2T>C - IntronicSNV - 17/62 2
11-108139120-G-A c.2639-17G>A - IntronicSNV - 17/62 1
11-108139120-G-T c.2639-17G>T - IntronicSNV - 17/62 1
11-108139138-GT-G c.2640del p.A881Pfs*5 Frameshift 18/63 - 1
11-108139143-T-C c.2645T>C p.I882T Missense 18/63 - 1
11-108139148-C-G c.2650C>G p.P884A Missense 18/63 - 1
11-108139148-C-T c.2650C>T p.P884S Missense 18/63 - 1
11-108139149-C-T c.2651C>T p.P884L Missense 18/63 - 1
11-108139153-A-T c.2655A>T p.L885F Missense 18/63 - 2
11-108139153-A-C c.2655A>C p.L885F Missense 18/63 - 1
11-108139160-G-T c.2662G>T p.E888* Nonsense 18/63 - 1
11-108139165-T-A c.2667T>A p.Y889* Nonsense 18/63 - 2
11-108139170-C-A c.2672C>A p.S891* Nonsense 18/63 - 2
11-108139170-C-G c.2672C>G p.S891* Nonsense 18/63 - 3
11-108139172-A-G c.2674A>G p.K892E Missense 18/63 - 1
11-108139175-C-T c.2677C>T p.Q893* Nonsense 18/63 - 2
11-108139178-AG-A c.2680del p.D894Ifs*5 Frameshift 18/63 - 1
11-108139179-A-G c.2681A>G p.D894G Missense 18/63 - 1
11-108139181-C-T c.2683C>T p.L895= Synonymous 18/63 - 2
11-108139183-A-G c.2685A>G p.L895= Synonymous 18/63 - 2
11-108139183-A-T c.2685A>T p.L895= Synonymous 18/63 - 1
11-108139183-A-C c.2685A>C p.L895= Synonymous 18/63 - 1
11-108139184-C-CA c.2686_2687insA p.L896Hfs*24 Frameshift 18/63 - 1
11-108139187-T-A c.2689T>A p.F897I Missense 18/63 - 1
11-108139187-T-C c.2689T>C p.F897L Missense 18/63 - 1
11-108139184-CT-C c.2690del p.F897Sfs*2 Frameshift 18/63 - 1
11-108139191-T-G c.2693T>G p.L898* Nonsense 18/63 - 3
11-108139191-T-C c.2693T>C p.L898S Missense 18/63 - 1
11-108139196-A-G c.2698A>G p.M900V Missense 18/63 - 1
11-108139197-T-C c.2699T>C p.M900T Missense 18/63 - 1
11-108139199-GC-G c.2701del p.L901Sfs*8 Frameshift 18/63 - 1
11-108139204-G-C c.2706G>C p.K902N Missense 18/63 - 2
11-108139204-G-T c.2706G>T p.K902N Missense 18/63 - 2
11-108139216-G-A c.2718G>A p.L906= Synonymous 18/63 - 1
11-108139218-G-T c.2720G>T p.C907F Missense 18/63 - 1
11-108139214-TTGTG-T c.2720_2723del p.C907* Frameshift 18/63 - 2
11-108139218-G-A c.2720G>A p.C907Y Missense 18/63 - 1
11-108139227-C-A c.2729C>A p.T910N Missense 18/63 - 1
11-108139232-C-G c.2734C>G p.Q912E Missense 18/63 - 1
11-108139232-C-T c.2734C>T p.Q912* Nonsense 18/63 - 3
11-108139239-A-G c.2741A>G p.N914S Missense 18/63 - 1
11-108139253-AG-CA c.2755_2756delinsCA p.R919Q Missense 18/63 - 1
11-108139254-G-T c.2756G>T p.R919M Missense 18/63 - 2
11-108139255-G-C c.2757G>C p.R919S Missense 18/63 - 1
11-108139255-G-T c.2757G>T p.R919S Missense 18/63 - 1
11-108139268-C-T c.2770C>T p.R924W Missense 18/63 - 8
11-108139269-G-A c.2771G>A p.R924Q Missense 18/63 - 8
11-108139270-G-GT c.2772_2773insT p.R925* Nonsense 18/63 - 1
11-108139271-A-G c.2773A>G p.R925G Missense 18/63 - 1
11-108139271-AGG-CAT c.2773_2775delinsCAT p.R925H Missense 18/63 - 1
11-108139273-G-C c.2775G>C p.R925S Missense 18/63 - 1
11-108139273-G-T c.2775G>T p.R925S Missense 18/63 - 1
11-108139275-A-G c.2777A>G p.K926R Missense 18/63 - 1
11-108139278-T-C c.2780T>C p.L927S Missense 18/63 - 1
11-108139279-G-T c.2781G>T p.L927F Missense 18/63 - 2
11-108139279-G-C c.2781G>C p.L927F Missense 18/63 - 1
11-108139277-TTGTTAA-T c.2787_2792del p.M929_L930del InFrameDeletion 18/63 - 1
11-108139290-TTGATTCTAGCACGC-T c.2794_2807del p.D932Rfs*32 Frameshift 18/63 - 1
11-108139293-A-G c.2795A>G p.D932G Missense 18/63 - 2
11-108139296-C-T c.2798C>T p.S933F Missense 18/63 - 1
11-108139302-C-A c.2804C>A p.T935K Missense 18/63 - 1
11-108139302-C-G c.2804C>G p.T935R Missense 18/63 - 4
11-108139302-C-T c.2804C>T p.T935M Missense 18/63 - 1
11-108139303-G-A c.2805G>A p.T935= Synonymous 18/63 - 1
11-108139303-G-T c.2805G>T p.T935= Synonymous 18/63 - 1
11-108139303-G-C c.2805G>C p.T935= Synonymous 18/63 - 2
11-108139306-TAGAA-T c.2808_2811del p.E937Lfs*11 Frameshift 18/63 - 1
11-108139313-AC-A c.2817del p.K940Nfs*9 Frameshift 18/63 - 1
11-108139315-C-CA c.2820dup p.S941Ifs*28 Frameshift 18/63 - 1
11-108139319-TC-CG c.2821_2822delinsCG p.S941R Missense 18/63 - 1
11-108139322-C-T c.2824C>T p.L942F Missense 18/63 - 1
11-108139324-C-T c.2826C>T p.L942= Synonymous 18/63 - 1
11-108139326-A-G c.2828A>G p.H943R Missense 18/63 - 1
11-108139327-C-G c.2829C>G p.H943Q Missense 18/63 - 1
11-108139333-T-TA c.2836dup p.M946Nfs*23 SpliceDonorInsertion 18/63 - 1
11-108139346-G-A c.2838+10G>A - IntronicSNV - 18/62 1
11-108139364-T-TA c.2838+28_2838+29insA - IntronicInsertion - 18/62 1
11-108140516-A-G c.2838+1180A>G - IntronicSNV - 18/62 4
11-108141134-G-A c.2839-657G>A - IntronicSNV - 18/62 1
11-108141491-CG-C c.2839-298del - IntronicDeletion - 18/62 1
11-108141701-G-A c.2839-90G>A - IntronicSNV - 18/62 1
11-108141701-G-T c.2839-90G>T - IntronicSNV - 18/62 1
11-108141727-T-C c.2839-64T>C - IntronicSNV - 18/62 1
11-108141790-G-GT c.2839dup p.Y947Lfs*22 SpliceAcceptorInsertion 19/63 - 1
11-108141800-C-T c.2848C>T p.L950F Missense 19/63 - 2
11-108141801-T-G c.2849T>G p.L950R Missense 19/63 - 5
11-108141801-T-A c.2849T>A p.L950H Missense 19/63 - 1
11-108141804-T-C c.2852T>C p.L951S Missense 19/63 - 1
11-108141809-G-A c.2857G>A p.E953K Missense 19/63 - 1
11-108141811-G-C c.2859G>C p.E953D Missense 19/63 - 1
11-108141811-G-T c.2859G>T p.E953D Missense 19/63 - 1
11-108141815-C-A c.2863C>A p.P955T Missense 19/63 - 1
11-108141817-TG-T c.2867del p.G956Efs*15 Frameshift 19/63 - 1
11-108141823-A-C c.2871A>C p.E957D Missense 19/63 - 1
11-108141823-A-T c.2871A>T p.E957D Missense 19/63 - 1
11-108141824-G-T c.2872G>T p.E958* Nonsense 19/63 - 1
11-108141829-C-A c.2877C>A p.Y959* Nonsense 19/63 - 1
11-108141829-C-G c.2877C>G p.Y959* Nonsense 19/63 - 2
11-108141831-C-A c.2879C>A p.P960H Missense 19/63 - 3
11-108141831-C-T c.2879C>T p.P960L Missense 19/63 - 2
11-108141828-AC-A c.2880del p.L961Cfs*10 Frameshift 19/63 - 2
11-108141832-CT-C c.2882del p.L961Cfs*10 Frameshift 19/63 - 1
11-108141851-C-A c.2899C>A p.L967I Missense 19/63 - 1
11-108141851-C-T c.2899C>T p.L967F Missense 19/63 - 1
11-108141854-G-A c.2902G>A p.E968K Missense 19/63 - 1
11-108141854-G-C c.2902G>C p.E968Q Missense 19/63 - 1
11-108141855-A-C c.2903A>C p.E968A Missense 19/63 - 1
11-108141860-C-T c.2908C>T p.L970= Synonymous 19/63 - 1
11-108141861-T-G c.2909T>G p.L970R Missense 19/63 - 1
11-108141866-C-A c.2914C>A p.P972T Missense 19/63 - 1
11-108141867-C-T c.2915C>T p.P972L Missense 19/63 - 1
11-108141869-C-G c.2917C>G p.L973V Missense 19/63 - 1
11-108141870-T-G c.2918T>G p.L973R Missense 19/63 - 1
11-108141871-A-AC c.2919_2920insC p.S974Lfs*10 SpliceDonorInsertion 19/63 - 1
11-108141870-T-TA c.2919dup p.S974Ifs*10 SpliceDonorInsertion 19/63 - 1
11-108141871-A-AG c.2919_2920insG p.S974Vfs*10 SpliceDonorInsertion 19/63 - 1
11-108141871-A-G c.2919A>G p.L973= Synonymous 19/63 - 1
11-108141871-A-AT c.2920dup p.S974Ffs*10 SpliceDonorInsertion 19/63 - 1
11-108141873-C-T c.2921C>T p.S974F Missense 19/63 - 5
11-108141874-G-A c.2921+1G>A - IntronicSNV - 19/62 14
11-108141874-G-T c.2921+1G>T - IntronicSNV - 19/62 1
11-108141874-G-C c.2921+1G>C - IntronicSNV - 19/62 3
11-108141878-G-C c.2921+5G>C - IntronicSNV - 19/62 1
11-108141980-A-G c.2924A>G p.N975S Missense 20/63 - 2
11-108141984-G-A c.2928G>A p.V976= Synonymous 20/63 - 1
11-108141984-G-C c.2928G>C p.V976= Synonymous 20/63 - 1
11-108141984-G-T c.2928G>T p.V976= Synonymous 20/63 - 1
11-108141985-T-C c.2929T>C p.C977R Missense 20/63 - 1
11-108141986-G-A c.2930G>A p.C977Y Missense 20/63 - 1
11-108141988-T-C c.2932T>C p.S978P Missense 20/63 - 14
11-108141988-T-G c.2932T>G p.S978A Missense 20/63 - 1
11-108141989-C-G c.2933C>G p.S978C Missense 20/63 - 2
11-108141989-C-A c.2933C>A p.S978Y Missense 20/63 - 1
11-108141989-C-T c.2933C>T p.S978F Missense 20/63 - 1
11-108141989-CT-C c.2936del p.L979Cfs*13 Frameshift 20/63 - 2
11-108141993-G-T c.2937G>T p.L979F Missense 20/63 - 1
11-108141993-G-C c.2937G>C p.L979F Missense 20/63 - 1
11-108141997-C-T c.2941C>T p.R981C Missense 20/63 - 2
11-108141998-G-A c.2942G>A p.R981H Missense 20/63 - 1
11-108142000-C-T c.2944C>T p.R982C Missense 20/63 - 5
11-108142001-CGTGACCAAGATGTTTGTAA-C c.2945_2963del p.R982Qfs*4 Frameshift 20/63 - 1
11-108142001-G-A c.2945G>A p.R982H Missense 20/63 - 1
11-108142001-G-T c.2945G>T p.R982L Missense 20/63 - 1
11-108142012-G-A c.2956G>A p.V986I Missense 20/63 - 1
11-108142013-T-C c.2957T>C p.V986A Missense 20/63 - 1
11-108142010-ATGTT-A c.2958_2961del p.C987Kfs*4 Frameshift 20/63 - 1
11-108142015-T-C c.2959T>C p.C987R Missense 20/63 - 1
11-108142016-G-A c.2960G>A p.C987Y Missense 20/63 - 1
11-108142018-A-G c.2962A>G p.K988E Missense 20/63 - 1
11-108142028-T-C c.2972T>C p.L991S Missense 20/63 - 1
11-108142042-C-T c.2986C>T p.H996Y Missense 20/63 - 1
11-108142044-T-G c.2988T>G p.H996Q Missense 20/63 - 1
11-108142047-A-G c.2991A>G p.V997= Synonymous 20/63 - 1
11-108142048-G-A c.2992G>A p.V998M Missense 20/63 - 1
11-108142050-GA-G c.2999del p.N1000Tfs*2 Frameshift 20/63 - 1
11-108142059-A-C c.3003A>C p.L1001= Synonymous 20/63 - 1
11-108142061-G-C c.3005G>C p.G1002A Missense 20/63 - 1
11-108142063-C-T c.3007C>T p.Q1003* Nonsense 20/63 - 1
11-108142066-AG-GC c.3010_3011delinsGC p.S1004A Missense 20/63 - 2
11-108142066-AG-GA c.3010_3011delinsGA p.S1004D Missense 20/63 - 1
11-108142067-G-A c.3011G>A p.S1004N Missense 20/63 - 1
11-108142068-GCAA-G c.3012_3014del p.N1005del InFrameDeletion 20/63 - 2
11-108142068-C-G c.3012C>G p.S1004R Missense 20/63 - 1
11-108142070-A-G c.3014A>G p.N1005S Missense 20/63 - 1
11-108142072-A-G c.3016A>G p.M1006V Missense 20/63 - 1
11-108142079-TC-T c.3023del p.S1008Lfs*14 Frameshift 20/63 - 1
11-108142079-C-CT c.3024dup p.E1009* Nonsense 20/63 - 1
11-108142080-CTG-C c.3024_3025del p.N1010Hfs*37 Frameshift 20/63 - 1
11-108142085-A-G c.3029A>G p.N1010S Missense 20/63 - 1
11-108142090-A-T c.3034A>T p.R1012W Missense 20/63 - 1
11-108142091-G-A c.3035G>A p.R1012K Missense 20/63 - 1
11-108142092-G-GT c.3036_3037insT p.D1013* Nonsense 20/63 - 1
11-108142093-G-GA c.3038dup p.D1013Efs*35 Frameshift 20/63 - 2
11-108142097-C-A c.3041C>A p.A1014D Missense 20/63 - 1
11-108142099-C-A c.3043C>A p.Q1015K Missense 20/63 - 1
11-108142099-C-T c.3043C>T p.Q1015* Nonsense 20/63 - 2
11-108142102-G-T c.3046G>T p.G1016* Nonsense 20/63 - 2
11-108142105-C-T c.3049C>T p.Q1017* Nonsense 20/63 - 2
11-108142108-T-C c.3052T>C p.F1018L Missense 20/63 - 1
11-108142110-T-A c.3054T>A p.F1018L Missense 20/63 - 1
11-108142110-T-G c.3054T>G p.F1018L Missense 20/63 - 1
11-108142112-T-G c.3056T>G p.L1019R Missense 20/63 - 1
11-108142114-AC-CT c.3058_3059delinsCT p.T1020L Missense 20/63 - 1
11-108142113-T-TA c.3058dup p.T1020Nfs*28 Frameshift 20/63 - 1
11-108142115-C-T c.3059C>T p.T1020I Missense 20/63 - 1
11-108142117-G-C c.3061G>C p.V1021L Missense 20/63 - 2
11-108142117-G-A c.3061G>A p.V1021I Missense 20/63 - 1
11-108142126-G-A c.3070G>A p.A1024T Missense 20/63 - 1
11-108142129-T-C c.3073T>C p.F1025L Missense 20/63 - 1
11-108142131-T-A c.3075T>A p.F1025L Missense 20/63 - 1
11-108142131-T-G c.3075T>G p.F1025L Missense 20/63 - 1
11-108142130-T-C c.3074T>C p.F1025S Missense 20/63 - 1
11-108142134-G-T c.3077+1G>T - IntronicSNV - 20/62 3
11-108142134-G-A c.3077+1G>A - IntronicSNV - 20/62 1
11-108142256-A-G c.3077+123A>G - IntronicSNV - 20/62 1
11-108142617-G-A c.3077+484G>A - IntronicSNV - 20/62 1
11-108143105-G-A c.3078-154G>A - IntronicSNV - 20/62 1
11-108143182-C-A c.3078-77C>A - IntronicSNV - 20/62 30
11-108143182-C-T c.3078-77C>T - IntronicSNV - 20/62 30
11-108143258-G-A c.3078-1G>A - IntronicSNV - 20/62 1
11-108143259-G-C c.3078G>C p.W1026C Missense 21/63 - 1
11-108143261-A-G c.3080A>G p.H1027R Missense 21/63 - 1
11-108143264-T-TA c.3085dup p.T1029Nfs*19 Frameshift 21/63 - 2
11-108143271-G-C c.3090G>C p.K1030N Missense 21/63 - 1
11-108143271-G-T c.3090G>T p.K1030N Missense 21/63 - 1
11-108143277-G-GT c.3096_3097insT p.K1033* Nonsense 21/63 - 1
11-108143279-A-G c.3098A>G p.K1033R Missense 21/63 - 1
11-108143283-T-G c.3102T>G p.Y1034* Nonsense 21/63 - 2
11-108143287-T-C c.3106T>C p.F1036L Missense 21/63 - 3
11-108143289-C-A c.3108C>A p.F1036L Missense 21/63 - 1
11-108143289-C-G c.3108C>G p.F1036L Missense 21/63 - 1
11-108143292-CT-C c.3111del p.V1038* Frameshift 21/63 - 2
11-108143293-GT-TA c.3112_3113delinsTA p.V1038* Nonsense 21/63 - 1
11-108143294-T-C c.3113T>C p.V1038A Missense 21/63 - 1
11-108143296-A-T c.3115A>T p.R1039* Nonsense 21/63 - 1
11-108143296-AG-CT c.3115_3116inv p.R1039L Missense 21/63 - 1
11-108143299-A-G c.3118A>G p.M1040V Missense 21/63 - 5
11-108143308-G-A c.3127G>A p.V1043I Missense 21/63 - 1
11-108143309-T-TA c.3131dup p.N1044Kfs*4 Frameshift 21/63 - 1
11-108143312-A-AT c.3133dup p.C1045Lfs*3 Frameshift 21/63 - 1
11-108143317-C-T c.3136C>T p.L1046F Missense 21/63 - 1
11-108143327-T-G c.3146T>G p.L1049W Missense 21/63 - 1
11-108143330-T-C c.3149T>C p.L1050P Missense 21/63 - 1
11-108143331-T-C c.3150T>C p.L1050= Synonymous 21/63 - 1
11-108143333-A-C c.3152A>C p.E1051A Missense 21/63 - 1
11-108143335-G-A c.3153+1G>A - IntronicSNV - 21/62 1
11-108143354-T-A c.3153+20T>A - IntronicSNV - 21/62 1
11-108143444-C-T c.3154-5C>T - IntronicSNV - 21/62 1
11-108143447-A-G c.3154-2A>G - IntronicSNV - 21/62 1
11-108143450-C-T c.3155C>T p.A1052V Missense 22/63 - 1
11-108143452-G-A c.3157G>A p.D1053N Missense 22/63 - 2
11-108143455-C-T c.3160C>T p.P1054S Missense 22/63 - 1
11-108143456-C-G c.3161C>G p.P1054R Missense 22/63 - 77
11-108143456-C-A c.3161C>A p.P1054H Missense 22/63 - 21
11-108143456-C-T c.3161C>T p.P1054L Missense 22/63 - 1
11-108143463-A-AG c.3168_3169insG p.K1057Efs*6 Frameshift 22/63 - 1
11-108143464-A-T c.3169A>T p.K1057* Nonsense 22/63 - 1
11-108143466-A-C c.3171A>C p.K1057N Missense 22/63 - 1
11-108143468-G-T c.3173G>T p.W1058L Missense 22/63 - 1
11-108143468-G-A c.3173G>A p.W1058* Nonsense 22/63 - 1
11-108143469-G-A c.3174G>A p.W1058* Nonsense 22/63 - 2
11-108143477-T-G c.3182T>G p.L1061R Missense 22/63 - 1
11-108143478-TA-T c.3185del p.N1062Mfs*2 Frameshift 22/63 - 1
11-108143482-G-A c.3187G>A p.V1063I Missense 22/63 - 1
11-108143485-A-G c.3190A>G p.M1064V Missense 22/63 - 1
11-108143487-G-C c.3192G>C p.M1064I Missense 22/63 - 1
11-108143487-G-A c.3192G>A p.M1064I Missense 22/63 - 1
11-108143487-G-T c.3192G>T p.M1064I Missense 22/63 - 1
11-108143489-G-A c.3194G>A p.G1065E Missense 22/63 - 1
11-108143494-G-T c.3199G>T p.D1067Y Missense 22/63 - 1
11-108143495-A-T c.3200A>T p.D1067V Missense 22/63 - 1
11-108143499-TC-T c.3206del p.P1069Lfs*2 Frameshift 22/63 - 4
11-108143503-G-A c.3208G>A p.V1070I Missense 22/63 - 3
11-108143504-T-C c.3209T>C p.V1070A Missense 22/63 - 1
11-108143504-TA-T c.3212del p.N1071Mfs*38 Frameshift 22/63 - 1
11-108143509-G-A c.3214G>A p.E1072K Missense 22/63 - 2
11-108143509-G-T c.3214G>T p.E1072* Nonsense 22/63 - 4
11-108143512-G-GT c.3218dup p.F1074Ifs*7 Frameshift 22/63 - 1
11-108143518-A-G c.3223A>G p.T1075A Missense 22/63 - 1
11-108143523-A-T c.3228A>T p.Q1076H Missense 22/63 - 1
11-108143523-A-C c.3228A>C p.Q1076H Missense 22/63 - 1
11-108143523-A-AT c.3231dup p.L1078Sfs*3 Frameshift 22/63 - 1
11-108143530-G-T c.3235G>T p.A1079S Missense 22/63 - 1
11-108143531-C-T c.3236C>T p.A1079V Missense 22/63 - 1
11-108143533-G-A c.3238G>A p.D1080N Missense 22/63 - 1
11-108143534-A-T c.3239A>T p.D1080V Missense 22/63 - 1
11-108143535-C-A c.3240C>A p.D1080E Missense 22/63 - 4
11-108143535-C-G c.3240C>G p.D1080E Missense 22/63 - 1
11-108143539-C-CTG c.3244_3245insTG p.H1082Lfs*28 Frameshift 22/63 - 5
11-108143539-C-CG c.3244_3245insG p.H1082Rfs*14 Frameshift 22/63 - 1
11-108143539-C-T c.3244C>T p.H1082Y Missense 22/63 - 2
11-108143539-C-CTA c.3244_3245insTA p.H1082Lfs*28 Frameshift 22/63 - 1
11-108143540-ATC-TGAT c.3245_3247delinsTGAT p.H1082Lfs*14 Frameshift 22/63 - 4
11-108143539-CATC-CTGAT c.3245_3247delinsTGAT p.H1082Lfs*14 Frameshift 22/63 - 1
11-108143542-TC-T c.3247del p.H1083Tfs*26 Frameshift 22/63 - 3
11-108143542-C-T c.3247C>T p.H1083Y Missense 22/63 - 2
11-108143543-A-G c.3248A>G p.H1083R Missense 22/63 - 1
11-108143548-G-A c.3253G>A p.V1085I Missense 22/63 - 1
11-108143549-T-A c.3254T>A p.V1085D Missense 22/63 - 1
11-108143551-C-T c.3256C>T p.R1086C Missense 22/63 - 8
11-108143552-G-A c.3257G>A p.R1086H Missense 22/63 - 1
11-108143560-G-T c.3265G>T p.A1089S Missense 22/63 - 1
11-108143564-C-T c.3269C>T p.A1090V Missense 22/63 - 1
11-108143566-G-C c.3271G>C p.E1091Q Missense 22/63 - 1
11-108143566-G-A c.3271G>A p.E1091K Missense 22/63 - 1
11-108143564-CAG-C c.3272_3273del p.E1091Vfs*4 Frameshift 22/63 - 1
11-108143569-T-G c.3274T>G p.S1092A Missense 22/63 - 1
11-108143570-C-A c.3275C>A p.S1092* Nonsense 22/63 - 3
11-108143573-T-A c.3278T>A p.I1093N Missense 22/63 - 1
11-108143574-CA-C c.3281del p.N1094Ifs*15 Frameshift 22/63 - 2
11-108143576-A-G c.3281A>G p.N1094S Missense 22/63 - 2
11-108143579-G-A c.3284G>A p.R1095K Missense 22/63 - 1
11-108143580-G-A c.3284+1G>A - IntronicSNV - 22/62 1
11-108143580-G-C c.3284+1G>C - IntronicSNV - 22/62 1
11-108143589-C-G c.3284+10C>G - IntronicSNV - 22/62 1
11-108143620-G-C c.3284+41G>C - IntronicSNV - 22/62 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 3
11-108150219-T-G c.3286T>G p.L1096V Missense 23/63 - 1
11-108150225-C-T c.3292C>T p.Q1098* Nonsense 23/63 - 2
11-108150223-TC-T c.3292del p.Q1098Rfs*11 Frameshift 23/63 - 1
11-108150226-A-G c.3293A>G p.Q1098R Missense 23/63 - 1
11-108150226-AG-A c.3295del p.D1099Tfs*10 Frameshift 23/63 - 1
11-108150229-A-T c.3296A>T p.D1099V Missense 23/63 - 1
11-108150234-A-C c.3301A>C p.K1101Q Missense 23/63 - 1
11-108150237-G-T c.3304G>T p.G1102* Nonsense 23/63 - 1
11-108150237-G-A c.3304G>A p.G1102R Missense 23/63 - 1
11-108150243-T-G c.3310T>G p.S1104A Missense 23/63 - 2
11-108150244-C-G c.3311C>G p.S1104C Missense 23/63 - 1
11-108150250-G-A c.3317G>A p.R1106K Missense 23/63 - 1
11-108150253-T-A c.3320T>A p.L1107* Nonsense 23/63 - 3
11-108150253-T-G c.3320T>G p.L1107* Nonsense 23/63 - 2
11-108150257-G-C c.3324G>C p.L1108= Synonymous 23/63 - 1
11-108150259-A-G c.3326A>G p.K1109R Missense 23/63 - 1
11-108150261-G-A c.3328G>A p.A1110T Missense 23/63 - 1
11-108150261-AG-A c.3328del p.A1110Hfs*4 Frameshift 23/63 - 1
11-108150264-C-T c.3331C>T p.L1111F Missense 23/63 - 1
11-108150264-C-G c.3331C>G p.L1111V Missense 23/63 - 1
11-108150265-T-C c.3332T>C p.L1111P Missense 23/63 - 1
11-108150265-T-G c.3332T>G p.L1111R Missense 23/63 - 1
11-108150266-T-G c.3333T>G p.L1111= Synonymous 23/63 - 1
11-108150267-C-T c.3334C>T p.P1112S Missense 23/63 - 3
11-108150267-C-G c.3334C>G p.P1112A Missense 23/63 - 1
11-108150273-A-T c.3340A>T p.K1114* Nonsense 23/63 - 1
11-108150274-A-G c.3341A>G p.K1114R Missense 23/63 - 1
11-108150279-C-T c.3346C>T p.Q1116* Nonsense 23/63 - 1
11-108150282-C-T c.3349C>T p.Q1117* Nonsense 23/63 - 1
11-108150285-A-G c.3352A>G p.T1118A Missense 23/63 - 1
11-108150300-G-A c.3367G>A p.A1123T Missense 23/63 - 1
11-108150304-A-T c.3371A>T p.Y1124F Missense 23/63 - 2
11-108150305-C-A c.3372C>A p.Y1124* Nonsense 23/63 - 2
11-108150305-C-G c.3372C>G p.Y1124* Nonsense 23/63 - 4
11-108150307-T-C c.3374T>C p.L1125S Missense 23/63 - 1
11-108150308-G-T c.3375G>T p.L1125F Missense 23/63 - 1
11-108150308-G-C c.3375G>C p.L1125F Missense 23/63 - 1
11-108150313-C-T c.3380C>T p.A1127V Missense 23/63 - 4
11-108150314-CTCAG-C c.3381_3384del p.Q1128Kfs*3 Frameshift 23/63 - 1
11-108150315-C-T c.3382C>T p.Q1128* Nonsense 23/63 - 1
11-108150315-C-A c.3382C>A p.Q1128K Missense 23/63 - 1
11-108150316-A-G c.3383A>G p.Q1128R Missense 23/63 - 7
11-108150317-G-GACAGCAAGCGCAAACAGCTTTTAA c.3384_3385insACAGCAAGCGCAAACAGCTTTTAA p.Q1128_E1129insTASANSF* InFrameInsertion 23/63 - 1
11-108150318-G-A c.3385G>A p.E1129K Missense 23/63 - 1
11-108150321-G-A c.3388G>A p.G1130R Missense 23/63 - 1
11-108150321-G-C c.3388G>C p.G1130R Missense 23/63 - 1
11-108150321-G-T c.3388G>T p.G1130* Nonsense 23/63 - 1
11-108150351-A-G c.3402+16A>G - IntronicSNV - 23/62 1
11-108150364-TATC-T c.3402+32_3402+34del - IntronicDeletion - 23/62 2
11-108150442-C-T c.3402+107C>T - IntronicSNV - 23/62 1
11-108151688-T-A c.3403-34T>A - IntronicSNV - 23/62 1
11-108151707-T-A c.3403-15T>A - IntronicSNV - 23/62 1
11-108151719-A-C c.3403-3A>C - IntronicSNV - 23/62 1
11-108151722-GTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTT-G c.3403_3461del p.S1135Tfs*11 Unclassified 24/63 - 3
11-108151722-T-TC c.3406dup p.H1136Pfs*2 Frameshift 24/63 - 1
11-108151734-TGAG-T c.3415_3417del p.E1139del InFrameDeletion 24/63 - 1
11-108151750-TG-T c.3433del p.D1145Mfs*11 Frameshift 24/63 - 1
11-108151763-T-A c.3444T>A p.Y1148* Nonsense 24/63 - 1
11-108151763-T-G c.3444T>G p.Y1148* Nonsense 24/63 - 1
11-108151768-G-C c.3449G>C p.R1150T Missense 24/63 - 2
11-108151769-GAAAAT-G c.3450_3454del p.R1150Sfs*14 Frameshift 24/63 - 2
11-108151773-AT-A c.3454del p.S1152Lfs*4 Frameshift 24/63 - 1
11-108151773-T-G c.3454T>G p.S1152A Missense 24/63 - 3
11-108151776-GTT-ATG c.3457_3459delinsATG p.V1153M Missense 24/63 - 1
11-108151776-G-A c.3457G>A p.V1153I Missense 24/63 - 1
11-108151777-T-C c.3458T>C p.V1153A Missense 24/63 - 2
11-108151786-C-T c.3467C>T p.T1156M Missense 24/63 - 2
11-108151790-G-C c.3471G>C p.L1157F Missense 24/63 - 1
11-108151794-AG-A c.3475del p.A1159Lfs*22 Frameshift 24/63 - 2
11-108151801-T-G c.3482T>G p.V1161G Missense 24/63 - 1
11-108151812-A-T c.3493A>T p.S1165C Missense 24/63 - 1
11-108151812-A-G c.3493A>G p.S1165G Missense 24/63 - 1
11-108151813-G-A c.3494G>A p.S1165N Missense 24/63 - 1
11-108151820-C-G c.3501C>G p.I1167M Missense 24/63 - 1
11-108151821-T-C c.3502T>C p.C1168R Missense 24/63 - 1
11-108151821-T-TG c.3503dup p.C1168Wfs*11 Frameshift 24/63 - 1
11-108151823-C-CT c.3504_3505insT p.E1169* Nonsense 24/63 - 1
11-108151824-G-A c.3505G>A p.E1169K Missense 24/63 - 3
11-108151827-A-T c.3508A>T p.K1170* Nonsense 24/63 - 1
11-108151824-G-GA c.3510dup p.Q1171Tfs*8 Frameshift 24/63 - 1
11-108151830-C-T c.3511C>T p.Q1171* Nonsense 24/63 - 1
11-108151833-G-C c.3514G>C p.A1172P Missense 24/63 - 1
11-108151838-G-C c.3519G>C p.L1173F Missense 24/63 - 1
11-108151839-T-C c.3520T>C p.F1174L Missense 24/63 - 1
11-108151841-T-A c.3522T>A p.F1174L Missense 24/63 - 1
11-108151841-T-G c.3522T>G p.F1174L Missense 24/63 - 1
11-108151839-T-G c.3520T>G p.F1174V Missense 24/63 - 1
11-108151840-T-C c.3521T>C p.F1174S Missense 24/63 - 1
11-108151842-TG-T c.3523del p.A1175Pfs*6 Frameshift 24/63 - 1
11-108151846-T-A c.3527T>A p.L1176Q Missense 24/63 - 1
11-108151847-G-A c.3528G>A p.L1176= Synonymous 24/63 - 1
11-108151849-G-T c.3530G>T p.C1177F Missense 24/63 - 1
11-108151850-T-A c.3531T>A p.C1177* Nonsense 24/63 - 1
11-108151858-T-A c.3539T>A p.V1180E Missense 24/63 - 1
11-108151859-GAA-G c.3542_3543del p.K1181Rfs*18 Frameshift 24/63 - 1
11-108151861-AAG-A c.3546_3547del p.N1183Wfs*16 Frameshift 24/63 - 1
11-108151866-GAA-G c.3547_3548del p.N1183Wfs*16 Frameshift 24/63 - 1
11-108151867-A-G c.3548A>G p.N1183S Missense 24/63 - 1
11-108151868-T-C c.3549T>C p.N1183= Synonymous 24/63 - 1
11-108151873-T-G c.3554T>G p.L1185* Nonsense 24/63 - 1
11-108151874-TAGAA-T c.3555_3558del p.L1185Ffs*5 Frameshift 24/63 - 1
11-108151879-C-G c.3560C>G p.P1187R Missense 24/63 - 1
11-108151884-C-A c.3565C>A p.L1189I Missense 24/63 - 1
11-108151884-C-G c.3565C>G p.L1189V Missense 24/63 - 1
11-108151893-AAAG-A c.3574_3576del p.K1192del InFrameDeletion 24/63 - 6
11-108151895-G-A c.3576G>A p.K1192= Synonymous 24/63 - 23
11-108151895-G-T c.3576G>T p.K1192N Missense 24/63 - 2
11-108151896-G-A c.3576+1G>A - IntronicSNV - 24/62 2
11-108151900-A-T c.3576+5A>T - IntronicSNV - 24/62 1
11-108152582-C-G c.3576+687C>G - IntronicSNV - 24/62 4
11-108152582-C-T c.3576+687C>T - IntronicSNV - 24/62 4
11-108153437-G-A c.3577G>A p.V1193I Missense 25/63 - 1
11-108153443-G-A c.3583G>A p.E1195K Missense 25/63 - 1
11-108153446-A-T c.3586A>T p.K1196* Nonsense 25/63 - 1
11-108153445-G-GA c.3588dup p.V1197Sfs*3 Frameshift 25/63 - 1
11-108153449-GTT-ATG c.3589_3591delinsATG p.V1197M Missense 25/63 - 1
11-108153450-T-C c.3590T>C p.V1197A Missense 25/63 - 1
11-108153464-G-A c.3604G>A p.G1202R Missense 25/63 - 1
11-108153464-G-C c.3604G>C p.G1202R Missense 25/63 - 1
11-108153465-G-C c.3605G>C p.G1202A Missense 25/63 - 1
11-108153467-TA-GC c.3607_3608delinsGC p.Y1203A Missense 25/63 - 1
11-108153469-AT-A c.3609del p.Y1203* Frameshift 25/63 - 3
11-108153473-C-T c.3613C>T p.R1205C Missense 25/63 - 3
11-108153476-T-G c.3616T>G p.L1206V Missense 25/63 - 1
11-108153482-G-T c.3622G>T p.D1208Y Missense 25/63 - 1
11-108153484-CTT-C c.3626_3627del p.F1209Yfs*19 Frameshift 25/63 - 1
11-108153490-G-A c.3630G>A p.M1210I Missense 25/63 - 1
11-108153506-T-C c.3646T>C p.Y1216H Missense 25/63 - 1
11-108153518-G-T c.3658G>T p.E1220* Nonsense 25/63 - 1
11-108153521-T-C c.3661T>C p.W1221R Missense 25/63 - 1
11-108153522-G-A c.3662G>A p.W1221* Nonsense 25/63 - 1
11-108153523-G-A c.3663G>A p.W1221* Nonsense 25/63 - 5
11-108153527-A-G c.3667A>G p.N1223D Missense 25/63 - 1
11-108153528-A-G c.3668A>G p.N1223S Missense 25/63 - 1
11-108153529-T-TTAG c.3669_3670insTAG p.N1223_L1224ins* Nonsense 25/63 - 1
11-108153533-C-T c.3673C>T p.Q1225* Nonsense 25/63 - 3
11-108153536-G-A c.3676G>A p.D1226N Missense 25/63 - 1
11-108153536-G-C c.3676G>C p.D1226H Missense 25/63 - 2
11-108153538-TACTG-T c.3680_3683del p.T1227Nfs*12 Frameshift 25/63 - 1
11-108153549-A-G c.3689A>G p.N1230S Missense 25/63 - 1
11-108153552-T-TA c.3693dup p.S1232Ifs*14 Frameshift 25/63 - 1
11-108153549-ACTTAT-A c.3693_3697del p.L1231Ffs*13 Frameshift 25/63 - 1
11-108153553-TATC-T c.3693_3695del p.L1231_S1232delinsF MultiAAMissense 25/63 - 1
11-108153561-T-C c.3701T>C p.F1234S Missense 25/63 - 2
11-108153563-C-T c.3703C>T p.P1235S Missense 25/63 - 2
11-108153559-TTTTCC-T c.3703_3707del p.P1235Yfs*9 Frameshift 25/63 - 1
11-108153563-CCT-TAA c.3703_3705delinsTAA p.P1235* Nonsense 25/63 - 1
11-108153566-T-C c.3706T>C p.F1236L Missense 25/63 - 1
11-108153568-T-A c.3708T>A p.F1236L Missense 25/63 - 1
11-108153568-T-G c.3708T>G p.F1236L Missense 25/63 - 1
11-108153564-CTTTTA-C c.3712_3716del p.L1238Kfs*6 Frameshift 25/63 - 7
11-108153573-T-A c.3713T>A p.L1238* Nonsense 25/63 - 1
11-108153573-T-G c.3713T>G p.L1238* Nonsense 25/63 - 1
11-108153583-C-A c.3723C>A p.Y1241* Nonsense 25/63 - 1
11-108153583-C-G c.3723C>G p.Y1241* Nonsense 25/63 - 1
11-108153584-ACA-TGT c.3724_3726inv p.T1242C Missense 25/63 - 1
11-108153596-G-A c.3736G>A p.D1246N Missense 25/63 - 2
11-108153596-G-C c.3736G>C p.D1246H Missense 25/63 - 1
11-108153600-T-C c.3740T>C p.F1247S Missense 25/63 - 1
11-108153602-T-C c.3742T>C p.Y1248H Missense 25/63 - 4
11-108153598-T-TTTCTGGAGG c.3742_3743insGGAGGTTCT p.F1247_Y1248insWRF InFrameInsertion 25/63 - 1
11-108153603-A-G c.3743A>G p.Y1248C Missense 25/63 - 1
11-108153606-G-T c.3746G>T p.R1249I Missense 25/63 - 1
11-108153607-G-A c.3746+1G>A - IntronicSNV - 25/62 3
11-108154097-G-C c.3746+491G>C - IntronicSNV - 25/62 4
11-108154911-A-T c.3747-43A>T - IntronicSNV - 25/62 1
11-108154920-A-G c.3747-34A>G - IntronicSNV - 25/62 1
11-108154956-C-G c.3749C>G p.S1250C Missense 26/63 - 2
11-108154961-TAT-CA c.3754_3756delinsCA p.Y1252Qfs*4 Frameshift 26/63 - 1
11-108154963-T-A c.3756T>A p.Y1252* Nonsense 26/63 - 2
11-108154963-ATAAG-A c.3756_3759del p.Y1252* Frameshift 26/63 - 1
11-108154965-A-G c.3758A>G p.K1253R Missense 26/63 - 1
11-108154966-G-T c.3759G>T p.K1253N Missense 26/63 - 2
11-108154971-T-A c.3764T>A p.L1255* Nonsense 26/63 - 2
11-108154971-T-TA c.3764_3765insA p.I1256Dfs*7 Frameshift 26/63 - 1
11-108154972-G-C c.3765G>C p.L1255F Missense 26/63 - 1
11-108154972-G-T c.3765G>T p.L1255F Missense 26/63 - 1
11-108154977-C-T c.3770C>T p.P1257L Missense 26/63 - 1
11-108154997-C-G c.3790C>G p.H1264D Missense 26/63 - 1
11-108155004-A-AT c.3798dup p.E1267* Nonsense 26/63 - 3
11-108155006-G-T c.3799G>T p.E1267* Nonsense 26/63 - 2
11-108155007-A-T c.3800A>T p.E1267V Missense 26/63 - 1
11-108155007-AG-A c.3802del p.V1268* Frameshift 26/63 - 29
11-108155009-G-A c.3802G>A p.V1268M Missense 26/63 - 3
11-108155009-GT-TA c.3802_3803delinsTA p.V1268* Nonsense 26/63 - 4
11-108155010-T-G c.3803T>G p.V1268G Missense 26/63 - 1
11-108155012-A-C c.3805A>C p.K1269Q Missense 26/63 - 1
11-108155013-A-G c.3806A>G p.K1269R Missense 26/63 - 1
11-108155013-A-T c.3806A>T p.K1269M Missense 26/63 - 1
11-108155021-GC-AA c.3814_3815delinsAA p.A1272N Missense 26/63 - 2
11-108155027-C-G c.3820C>G p.Q1274E Missense 26/63 - 1
11-108155033-C-G c.3826C>G p.Q1276E Missense 26/63 - 1
11-108155034-A-T c.3827A>T p.Q1276L Missense 26/63 - 1
11-108155034-A-C c.3827A>C p.Q1276P Missense 26/63 - 1
11-108155034-A-G c.3827A>G p.Q1276R Missense 26/63 - 1
11-108155042-T-G c.3835T>G p.W1279G Missense 26/63 - 1
11-108155043-G-A c.3836G>A p.W1279* Nonsense 26/63 - 1
11-108155048-A-G c.3841A>G p.S1281G Missense 26/63 - 1
11-108155051-C-A c.3844C>A p.L1282I Missense 26/63 - 1
11-108155055-T-C c.3848T>C p.L1283P Missense 26/63 - 2
11-108155055-TA-T c.3850del p.T1284Qfs*9 Frameshift 26/63 - 2
11-108155060-G-T c.3853G>T p.D1285Y Missense 26/63 - 1
11-108155064-G-T c.3857G>T p.C1286F Missense 26/63 - 1
11-108155065-CT-C c.3861del p.P1288Qfs*5 Frameshift 26/63 - 1
11-108155075-A-T c.3868A>T p.I1290F Missense 26/63 - 1
11-108155078-C-T c.3871C>T p.L1291F Missense 26/63 - 1
11-108155079-T-G c.3872T>G p.L1291R Missense 26/63 - 1
11-108155085-A-G c.3878A>G p.N1293S Missense 26/63 - 2
11-108155086-T-TA c.3880dup p.I1294Nfs*8 Frameshift 26/63 - 1
11-108155090-C-A c.3883C>A p.L1295I Missense 26/63 - 2
11-108155091-T-G c.3884T>G p.L1295R Missense 26/63 - 1
11-108155093-C-T c.3886C>T p.P1296S Missense 26/63 - 3
11-108155094-C-G c.3887C>G p.P1296R Missense 26/63 - 1
11-108155097-A-AT c.3894dup p.A1299Cfs*3 Frameshift 26/63 - 7
11-108155102-TG-T c.3895del p.A1299Pfs*50 Frameshift 26/63 - 2
11-108155103-C-T c.3896C>T p.A1299V Missense 26/63 - 1
11-108155109-A-G c.3902A>G p.E1301G Missense 26/63 - 1
11-108155112-G-T c.3905G>T p.G1302V Missense 26/63 - 2
11-108155112-G-C c.3905G>C p.G1302A Missense 26/63 - 1
11-108155114-A-G c.3907A>G p.T1303A Missense 26/63 - 1
11-108155114-A-AC c.3909dup p.R1304Qfs*17 Frameshift 26/63 - 1
11-108155117-CAGAGACA-C c.3910_3916del p.R1304Vfs*43 Frameshift 26/63 - 1
11-108155119-A-G c.3912A>G p.R1304= Synonymous 26/63 - 2
11-108155117-A-C c.3910A>C p.R1304= Synonymous 26/63 - 1
11-108155126-G-T c.3919G>T p.G1307W Missense 26/63 - 1
11-108155126-G-A c.3919G>A p.G1307R Missense 26/63 - 1
11-108155126-G-C c.3919G>C p.G1307R Missense 26/63 - 1
11-108155128-G-A c.3921G>A p.G1307= Synonymous 26/63 - 1
11-108155130-T-C c.3923T>C p.M1308T Missense 26/63 - 1
11-108155132-G-A c.3925G>A p.A1309T Missense 26/63 - 16
11-108155132-G-C c.3925G>C p.A1309P Missense 26/63 - 1
11-108155135-C-T c.3928C>T p.Q1310* Nonsense 26/63 - 1
11-108155137-G-T c.3930G>T p.Q1310H Missense 26/63 - 1
11-108155138-C-T c.3931C>T p.Q1311* Nonsense 26/63 - 1
11-108155141-A-G c.3934A>G p.R1312G Missense 26/63 - 2
11-108155141-A-T c.3934A>T p.R1312* Nonsense 26/63 - 1
11-108155142-G-C c.3935G>C p.R1312T Missense 26/63 - 1
11-108155143-A-AT c.3936_3937insT p.E1313* Nonsense 26/63 - 1
11-108155148-C-CT c.3942dup p.A1315Cfs*6 Frameshift 26/63 - 1
11-108155151-C-T c.3944C>T p.A1315V Missense 26/63 - 1
11-108155163-A-G c.3956A>G p.Y1319C Missense 26/63 - 2
11-108155165-G-A c.3958G>A p.D1320N Missense 26/63 - 1
11-108155170-G-A c.3963G>A p.M1321I Missense 26/63 - 3
11-108155170-G-C c.3963G>C p.M1321I Missense 26/63 - 1
11-108155170-G-T c.3963G>T p.M1321I Missense 26/63 - 1
11-108155171-C-A c.3964C>A p.L1322I Missense 26/63 - 1
11-108155172-T-C c.3965T>C p.L1322P Missense 26/63 - 1
11-108155175-A-G c.3968A>G p.K1323R Missense 26/63 - 1
11-108155175-A-T c.3968A>T p.K1323I Missense 26/63 - 1
11-108155180-G-T c.3973G>T p.E1325* Nonsense 26/63 - 1
11-108155180-G-A c.3973G>A p.E1325K Missense 26/63 - 1
11-108155185-C-A c.3978C>A p.N1326K Missense 26/63 - 1
11-108155187-T-A c.3980T>A p.L1327* Nonsense 26/63 - 2
11-108155187-T-G c.3980T>G p.L1327* Nonsense 26/63 - 2
11-108155193-G-C c.3986G>C p.G1329A Missense 26/63 - 1
11-108155198-C-T c.3991C>T p.Q1331* Nonsense 26/63 - 1
11-108155200-G-T c.3993G>T p.Q1331H Missense 26/63 - 3
11-108155200-G-A c.3993G>A p.Q1331= Synonymous 26/63 - 2
11-108155200-G-C c.3993G>C p.Q1331H Missense 26/63 - 2
11-108155201-G-A c.3993+1G>A - IntronicSNV - 26/62 5
11-108155202-T-G c.3993+2T>G - IntronicSNV - 26/62 1
11-108155204-T-A c.3993+4T>A - IntronicSNV - 26/62 1
11-108155205-G-T c.3993+5G>T - IntronicSNV - 26/62 3
11-108155206-GGCTTC-G c.3993+6_3993+10del - IntronicDeletion - 26/62 1
11-108155397-G-A c.3993+197G>A - IntronicSNV - 26/62 1
11-108156473-C-A c.3993+1273C>A - IntronicSNV - 26/62 1
11-108158134-T-C c.3994-193T>C - IntronicSNV - 26/62 15
11-108158230-G-A c.3994-97G>A - IntronicSNV - 26/62 3
11-108158230-G-T c.3994-97G>T - 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-C c.3994-2A>C - IntronicSNV - 26/62 1
11-108158325-A-G c.3994-2A>G - IntronicSNV - 26/62 1
11-108158331-A-T c.3998A>T p.D1333V Missense 27/63 - 1
11-108158340-T-TA c.4007_4008insA p.F1336Lfs*3 Frameshift 27/63 - 1
11-108158348-A-C c.4015A>C p.N1339H Missense 27/63 - 1
11-108158348-A-G c.4015A>G p.N1339D Missense 27/63 - 1
11-108158348-AATTTACCAGAG-A c.4019_4029del p.L1340Cfs*10 Frameshift 27/63 - 3
11-108158356-CAGA-C c.4023_4025del p.E1342del InFrameDeletion 27/63 - 1
11-108158361-T-C c.4028T>C p.I1343T Missense 27/63 - 1
11-108158367-T-C c.4034T>C p.V1345A Missense 27/63 - 1
11-108158369-G-T c.4036G>T p.E1346* Nonsense 27/63 - 1
11-108158373-T-A c.4040T>A p.L1347* Nonsense 27/63 - 1
11-108158373-T-G c.4040T>G p.L1347* Nonsense 27/63 - 1
11-108158371-GT-G c.4040del p.L1347Yfs*2 Frameshift 27/63 - 1
11-108158375-ATTG-A c.4042_4044del p.L1348del InFrameDeletion 27/63 - 1
11-108158377-G-C c.4044G>C p.L1348F Missense 27/63 - 1
11-108158379-ATGACGTTACATGAGCCAGC-A c.4046_4064del p.M1349Kfs*31 Frameshift 27/63 - 1
11-108158382-C-T c.4049C>T p.T1350M Missense 27/63 - 4
11-108158387-C-A c.4054C>A p.H1352N Missense 27/63 - 1
11-108158389-T-A c.4056T>A p.H1352Q Missense 27/63 - 1
11-108158390-G-A c.4057G>A p.E1353K Missense 27/63 - 2
11-108158393-C-A c.4060C>A p.P1354T Missense 27/63 - 7
11-108158399-A-G c.4066A>G p.N1356D Missense 27/63 - 1
11-108158412-G-A c.4079G>A p.S1360N Missense 27/63 - 1
11-108158414-C-T c.4081C>T p.Q1361* Nonsense 27/63 - 3
11-108158414-C-G c.4081C>G p.Q1361E Missense 27/63 - 1
11-108158415-A-G c.4082A>G p.Q1361R Missense 27/63 - 2
11-108158420-AC-GG c.4087_4088delinsGG p.T1363G Missense 27/63 - 1
11-108158423-G-A c.4090G>A p.D1364N Missense 27/63 - 1
11-108158424-A-G c.4091A>G p.D1364G Missense 27/63 - 1
11-108158432-G-A c.4099G>A p.D1367N Missense 27/63 - 2
11-108158438-T-G c.4105T>G p.S1369A Missense 27/63 - 6
11-108158439-C-A c.4106C>A p.S1369* Nonsense 27/63 - 2
11-108158439-C-G c.4106C>G p.S1369* Nonsense 27/63 - 1
11-108158441-G-T c.4108G>T p.G1370W Missense 27/63 - 1
11-108158442-G-C c.4109G>C p.G1370A Missense 27/63 - 1
11-108158448-T-C c.4109+6T>C - IntronicSNV - 27/62 1
11-108159051-G-T c.4109+609G>T - IntronicSNV - 27/62 1
11-108159667-A-T c.4110-37A>T - IntronicSNV - 27/62 1
11-108159702-A-AG c.4111dup p.D1371Gfs*7 SpliceAcceptorInsertion 28/63 - 2
11-108159702-AG-A c.4111del p.D1371Ifs*15 Frameshift 28/63 - 1
11-108159706-A-C c.4112A>C p.D1371A Missense 28/63 - 1
11-108159714-C-T c.4120C>T p.P1374S Missense 28/63 - 2
11-108159721-C-G c.4127C>G p.P1376R Missense 28/63 - 1
11-108159723-A-G c.4129A>G p.N1377D Missense 28/63 - 1
11-108159727-C-T c.4133C>T p.P1378L Missense 28/63 - 1
11-108159732-C-T c.4138C>T p.H1380Y Missense 28/63 - 17
11-108159733-A-C c.4139A>C p.H1380P Missense 28/63 - 1
11-108159734-T-C c.4140T>C p.H1380= Synonymous 28/63 - 1
11-108159733-A-AT c.4143dup p.P1382Sfs*6 Frameshift 28/63 - 2
11-108159738-C-T c.4144C>T p.P1382S Missense 28/63 - 1
11-108159739-C-T c.4145C>T p.P1382L Missense 28/63 - 2
11-108159742-C-T c.4148C>T p.S1383L Missense 28/63 - 6
11-108159747-G-A c.4153G>A p.V1385M Missense 28/63 - 1
11-108159768-CT-C c.4174del p.Y1392Ifs*10 Frameshift 28/63 - 1
11-108159770-T-A c.4176T>A p.Y1392* Nonsense 28/63 - 1
11-108159794-G-C c.4200G>C p.K1400N Missense 28/63 - 1
11-108159801-AG-GC c.4207_4208delinsGC p.S1403A Missense 28/63 - 2
11-108159801-AG-GA c.4207_4208delinsGA p.S1403D Missense 28/63 - 1
11-108159801-AG-CC c.4207_4208delinsCC p.S1403P Missense 28/63 - 1
11-108159808-T-TTCTACTG c.4214_4215insTCTACTG p.L1405Ffs*11 Frameshift 28/63 - 1
11-108159814-T-C c.4220T>C p.I1407T Missense 28/63 - 1
11-108159816-C-T c.4222C>T p.L1408F Missense 28/63 - 1
11-108159816-C-A c.4222C>A p.L1408I Missense 28/63 - 2
11-108159820-C-T c.4226C>T p.S1409F Missense 28/63 - 1
11-108159826-AGCCC-A c.4232_4235del p.S1411Mfs*39 SpliceDonorDeletion 28/63 - 1
11-108159827-C-T c.4233C>T p.S1411= Synonymous 28/63 - 1
11-108159828-C-T c.4234C>T p.P1412S Missense 28/63 - 1
11-108159829-C-T c.4235C>T p.P1412L Missense 28/63 - 1
11-108159830-CT-C c.4236del p.D1413Ifs*38 Frameshift 28/63 - 1
11-108159832-T-A c.4236+2T>A - IntronicSNV - 28/62 1
11-108159833-AAGTATACATGATG-A c.4236+7_4236+19del - IntronicDeletion - 28/62 1
11-108160258-A-G c.4237-71A>G - IntronicSNV - 28/62 1
11-108160275-T-C c.4237-54T>C - IntronicSNV - 28/62 1
11-108160329-G-A c.4237G>A p.D1413N Missense 29/63 - 1
11-108160333-C-A c.4241C>A p.S1414Y Missense 29/63 - 1
11-108160339-A-G c.4247A>G p.Q1416R Missense 29/63 - 1
11-108160350-C-T c.4258C>T p.L1420F Missense 29/63 - 34
11-108160354-C-A c.4262C>A p.A1421D Missense 29/63 - 1
11-108160357-T-C c.4265T>C p.I1422T Missense 29/63 - 1
11-108160359-T-C c.4267T>C p.C1423R Missense 29/63 - 2
11-108160364-G-A c.4272G>A p.E1424= Synonymous 29/63 - 1
11-108160371-G-A c.4279G>A p.A1427T Missense 29/63 - 1
11-108160384-A-G c.4292A>G p.N1431S Missense 29/63 - 1
11-108160389-T-G c.4297T>G p.Y1433D Missense 29/63 - 1
11-108160392-A-T c.4300A>T p.K1434* Nonsense 29/63 - 1
11-108160395-A-C c.4303A>C p.K1435Q Missense 29/63 - 2
11-108160395-A-T c.4303A>T p.K1435* Nonsense 29/63 - 1
11-108160396-A-C c.4304A>C p.K1435T Missense 29/63 - 2
11-108160398-C-T c.4306C>T p.H1436Y Missense 29/63 - 4
11-108160401-A-T c.4309A>T p.R1437* Nonsense 29/63 - 1
11-108160402-G-T c.4310G>T p.R1437I Missense 29/63 - 1
11-108160402-G-A c.4310G>A p.R1437K Missense 29/63 - 1
11-108160407-C-T c.4315C>T p.L1439F Missense 29/63 - 1
11-108160410-A-T c.4318A>T p.K1440* Nonsense 29/63 - 3
11-108160414-T-G c.4322T>G p.I1441R Missense 29/63 - 1
11-108160416-T-C c.4324T>C p.Y1442H Missense 29/63 - 13
11-108160416-T-G c.4324T>G p.Y1442D Missense 29/63 - 1
11-108160417-A-G c.4325A>G p.Y1442C Missense 29/63 - 1
11-108160419-C-T c.4327C>T p.H1443Y Missense 29/63 - 2
11-108160421-C-A c.4329C>A p.H1443Q Missense 29/63 - 2
11-108160431-A-C c.4339A>C p.S1447R Missense 29/63 - 1
11-108160438-T-A c.4346T>A p.L1449* Nonsense 29/63 - 1
11-108160438-T-G c.4346T>G p.L1449* Nonsense 29/63 - 1
11-108160440-C-T c.4348C>T p.L1450= Synonymous 29/63 - 3
11-108160441-T-C c.4349T>C p.L1450P Missense 29/63 - 2
11-108160454-A-C c.4362A>C p.K1454N Missense 29/63 - 8
11-108160454-A-T c.4362A>T p.K1454N Missense 29/63 - 3
11-108160450-TA-T c.4363del p.S1455Vfs*3 Frameshift 29/63 - 1
11-108160457-T-A c.4365T>A p.S1455R Missense 29/63 - 4
11-108160457-T-G c.4365T>G p.S1455R Missense 29/63 - 1
11-108160455-A-C c.4363A>C p.S1455R Missense 29/63 - 1
11-108160457-T-C c.4365T>C p.S1455= Synonymous 29/63 - 1
11-108160459-G-A c.4367G>A p.G1456D Missense 29/63 - 1
11-108160462-T-A c.4370T>A p.L1457* Nonsense 29/63 - 1
11-108160462-T-G c.4370T>G p.L1457* Nonsense 29/63 - 1
11-108160464-G-T c.4372G>T p.G1458* Nonsense 29/63 - 1
11-108160463-AG-A c.4373del p.G1458Efs*15 Frameshift 29/63 - 2
11-108160467-G-A c.4375G>A p.G1459R Missense 29/63 - 6
11-108160468-GA-AC c.4376_4377delinsAC p.G1459D Missense 29/63 - 2
11-108160472-CTT-C c.4380_4381del p.W1461Gfs*29 Frameshift 29/63 - 1
11-108160475-G-A c.4383G>A p.W1461* Nonsense 29/63 - 1
11-108160477-C-G c.4385C>G p.A1462G Missense 29/63 - 1
11-108160479-T-A c.4387T>A p.F1463I Missense 29/63 - 1
11-108160480-T-G c.4388T>G p.F1463C Missense 29/63 - 20
11-108160484-TTCTTC-T c.4392_4396del p.L1465Rfs*24 Frameshift 29/63 - 1
11-108160486-T-C c.4394T>C p.L1465P Missense 29/63 - 3
11-108160488-C-T c.4396C>T p.R1466* Nonsense 29/63 - 14
11-108160488-C-G c.4396C>G p.R1466G Missense 29/63 - 2
11-108160489-G-C c.4397G>C p.R1466P Missense 29/63 - 1
11-108160489-G-A c.4397G>A p.R1466Q Missense 29/63 - 2
11-108160489-G-T c.4397G>T p.R1466L Missense 29/63 - 1
11-108160493-C-G c.4401C>G p.D1467E Missense 29/63 - 2
11-108160493-C-A c.4401C>A p.D1467E Missense 29/63 - 1
11-108160495-T-A c.4403T>A p.V1468D Missense 29/63 - 1
11-108160497-A-T c.4405A>T p.I1469F Missense 29/63 - 1
11-108160499-T-G c.4407T>G p.I1469M Missense 29/63 - 1
11-108160500-T-C c.4408T>C p.Y1470H Missense 29/63 - 1
11-108160506-T-G c.4414T>G p.L1472V Missense 29/63 - 4
11-108160504-C-CT c.4415dup p.L1472Ffs*19 Frameshift 29/63 - 1
11-108160507-T-C c.4415T>C p.L1472S Missense 29/63 - 1
11-108160508-G-C c.4416G>C p.L1472F Missense 29/63 - 2
11-108160508-G-T c.4416G>T p.L1472F Missense 29/63 - 1
11-108160512-C-G c.4420C>G p.H1474D Missense 29/63 - 3
11-108160513-A-G c.4421A>G p.H1474R Missense 29/63 - 1
11-108160516-A-G c.4424A>G p.Y1475C Missense 29/63 - 15
11-108160519-T-C c.4427T>C p.I1476T Missense 29/63 - 1
11-108160528-G-T c.4436G>T p.R1479M Missense 29/63 - 1
11-108161202-T-A c.4436+674T>A - IntronicSNV - 29/62 3
11-108163345-G-A c.4437-1G>A - IntronicSNV - 29/62 1
11-108163345-G-C c.4437-1G>C - IntronicSNV - 29/62 1
11-108163350-TC-AA c.4441_4442delinsAA p.S1481N Missense 30/63 - 1
11-108163354-G-T c.4445G>T p.C1482F Missense 30/63 - 2
11-108163360-AT-A c.4451del p.M1484Rfs*15 Frameshift 30/63 - 2
11-108163362-G-C c.4453G>C p.D1485H Missense 30/63 - 1
11-108163362-G-T c.4453G>T p.D1485Y Missense 30/63 - 1
11-108163374-C-T c.4465C>T p.R1489C Missense 30/63 - 3
11-108163375-G-A c.4466G>A p.R1489H Missense 30/63 - 2
11-108163376-T-C c.4467T>C p.R1489= Synonymous 30/63 - 1
11-108163377-A-G c.4468A>G p.S1490G Missense 30/63 - 1
11-108163380-T-G c.4471T>G p.F1491V Missense 30/63 - 1
11-108163381-T-C c.4472T>C p.F1491S Missense 30/63 - 1
11-108163382-C-T c.4473C>T p.F1491= Synonymous 30/63 - 1
11-108163386-C-G c.4477C>G p.L1493V Missense 30/63 - 1
11-108163386-C-T c.4477C>T p.L1493F Missense 30/63 - 1
11-108163393-G-T c.4484G>T p.C1495F Missense 30/63 - 1
11-108163395-G-T c.4486G>T p.D1496Y Missense 30/63 - 1
11-108163400-A-T c.4491A>T p.L1497F Missense 30/63 - 1
11-108163400-A-C c.4491A>C p.L1497F Missense 30/63 - 1
11-108163402-T-A c.4493T>A p.L1498* Nonsense 30/63 - 1
11-108163402-T-G c.4493T>G p.L1498* Nonsense 30/63 - 2
11-108163407-C-T c.4498C>T p.Q1500* Nonsense 30/63 - 2
11-108163414-G-T c.4505G>T p.C1502F Missense 30/63 - 1
11-108163416-C-T c.4507C>T p.Q1503* Nonsense 30/63 - 5
11-108163425-G-A c.4516G>A p.V1506M Missense 30/63 - 1
11-108163432-A-G c.4523A>G p.Y1508C Missense 30/63 - 1
11-108163433-C-A c.4524C>A p.Y1508* Nonsense 30/63 - 1
11-108163433-C-G c.4524C>G p.Y1508* Nonsense 30/63 - 1
11-108163434-T-TAGTA c.4525_4526insAGTA p.C1509* Nonsense 30/63 - 1
11-108163443-G-T c.4534G>T p.A1512S Missense 30/63 - 1
11-108163443-G-A c.4534G>A p.A1512T Missense 30/63 - 1
11-108163449-G-GA c.4544dup p.N1515Kfs*16 Frameshift 30/63 - 1
11-108163458-C-T c.4549C>T p.L1517F Missense 30/63 - 2
11-108163470-G-T c.4561G>T p.V1521F Missense 30/63 - 1
11-108163473-G-A c.4564G>A p.G1522S Missense 30/63 - 1
11-108163473-G-C c.4564G>C p.G1522R Missense 30/63 - 2
11-108163477-C-T c.4568C>T p.T1523I Missense 30/63 - 1
11-108163479-C-T c.4570C>T p.L1524F Missense 30/63 - 1
11-108163485-C-A c.4576C>A p.P1526T Missense 30/63 - 1
11-108163486-C-T c.4577C>T p.P1526L Missense 30/63 - 1
11-108163487-C-T c.4578C>T p.P1526= Synonymous 30/63 - 18
11-108163487-C-G c.4578C>G p.P1526= Synonymous 30/63 - 8
11-108163487-C-A c.4578C>A p.P1526= Synonymous 30/63 - 8
11-108163488-C-TTTT c.4579delinsTTTT p.L1527delinsFF MultiAAMissense 30/63 - 1
11-108163488-CCTT-C c.4579_4581del p.L1527del InFrameDeletion 30/63 - 1
11-108163497-G-T c.4588G>T p.E1530* Nonsense 30/63 - 2
11-108163500-C-T c.4591C>T p.Q1531* Nonsense 30/63 - 1
11-108163502-G-A c.4593G>A p.Q1531= Synonymous 30/63 - 1
11-108163506-G-C c.4597G>C p.E1533Q Missense 30/63 - 1
11-108163506-GAGGTTC-G c.4600_4605del p.V1534_Q1535del InFrameDeletion 30/63 - 1
11-108163512-C-T c.4603C>T p.Q1535* Nonsense 30/63 - 1
11-108163518-C-T c.4609C>T p.Q1537* Nonsense 30/63 - 2
11-108163519-A-G c.4610A>G p.Q1537R Missense 30/63 - 1
11-108163519-A-AG c.4611+1dup - SpliceDonorInsertion - 30/62 1
11-108163589-T-C c.4611+69T>C - 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
11-108163733-A-T c.4611+213A>T - IntronicSNV - 30/62 1
11-108163918-G-A c.4612-122G>A - IntronicSNV - 30/62 1
11-108163918-G-T c.4612-122G>T - IntronicSNV - 30/62 1
11-108164040-G-T c.4612G>T p.V1538L Missense 31/63 - 1
11-108164043-ATTGGACTTGTTGAAATACTTAGTGATAGATAACAAGGATAATGAAAACCTCTATATCAC-A c.4615_4673del p.L1539Dfs*2 InFrameDeletion 31/63 - 1
11-108164045-G-T c.4617G>T p.L1539F Missense 31/63 - 1
11-108164045-G-C c.4617G>C p.L1539F Missense 31/63 - 1
11-108164046-G-T c.4618G>T p.D1540Y Missense 31/63 - 2
11-108164048-C-T c.4620C>T p.D1540= Synonymous 31/63 - 1
11-108164051-G-T c.4623G>T p.L1541F Missense 31/63 - 1
11-108164051-G-GT c.4625dup p.L1542Ffs*8 Frameshift 31/63 - 1
11-108164058-T-C c.4630T>C p.Y1544H Missense 31/63 - 1
11-108164059-A-G c.4631A>G p.Y1544C Missense 31/63 - 1
11-108164068-T-C c.4640T>C p.I1547T Missense 31/63 - 1
11-108164070-GAT-ATG c.4642_4644delinsATG p.D1548M Missense 31/63 - 1
11-108164065-TGATA-T c.4642_4645del p.D1548Tfs*14 Frameshift 31/63 - 1
11-108164073-A-G c.4645A>G p.N1549D Missense 31/63 - 1
11-108164078-G-C c.4650G>C p.K1550N Missense 31/63 - 1
11-108164078-G-T c.4650G>T p.K1550N Missense 31/63 - 1
11-108164085-G-A c.4657G>A p.E1553K Missense 31/63 - 2
11-108164086-A-G c.4658A>G p.E1553G Missense 31/63 - 1
11-108164092-T-A c.4664T>A p.L1555H Missense 31/63 - 1
11-108164096-T-G c.4668T>G p.Y1556* Nonsense 31/63 - 2
11-108164097-A-G c.4669A>G p.I1557V Missense 31/63 - 1
11-108164101-C-T c.4673C>T p.T1558M Missense 31/63 - 4
11-108164109-CTTTTAGA-C c.4683_4689del p.D1563Ffs*36 Frameshift 31/63 - 2
11-108164131-A-G c.4703A>G p.H1568R Missense 31/63 - 4
11-108164131-A-C c.4703A>C p.H1568P Missense 31/63 - 1
11-108164131-A-T c.4703A>T p.H1568L Missense 31/63 - 1
11-108164137-T-C c.4709T>C p.V1570A Missense 31/63 - 4
11-108164136-G-GT c.4713dup p.K1572* Nonsense 31/63 - 1
11-108164143-A-G c.4715A>G p.K1572R Missense 31/63 - 1
11-108164150-G-A c.4722G>A p.L1574= Synonymous 31/63 - 1
11-108164148-T-C c.4720T>C p.L1574= Synonymous 31/63 - 1
11-108164150-G-T c.4722G>T p.L1574F Missense 31/63 - 1
11-108164150-G-C c.4722G>C p.L1574F Missense 31/63 - 1
11-108164152-G-A c.4724G>A p.R1575H Missense 31/63 - 5
11-108164160-C-T c.4732C>T p.Q1578* Nonsense 31/63 - 4
11-108164161-CAG-C c.4733_4734del p.Q1578Pfs*7 Frameshift 31/63 - 1
11-108164164-A-G c.4736A>G p.Q1579R Missense 31/63 - 1
11-108164163-C-CA c.4741dup p.I1581Nfs*5 Frameshift 31/63 - 6
11-108164163-CA-C c.4741del p.I1581Sfs*20 Frameshift 31/63 - 1
11-108164179-G-C c.4751G>C p.S1584T Missense 31/63 - 1
11-108164180-T-G c.4752T>G p.S1584R Missense 31/63 - 1
11-108164180-T-A c.4752T>A p.S1584R Missense 31/63 - 1
11-108164178-A-C c.4750A>C p.S1584R Missense 31/63 - 1
11-108164183-A-C c.4755A>C p.R1585S Missense 31/63 - 2
11-108164183-A-T c.4755A>T p.R1585S Missense 31/63 - 1
11-108164184-G-T c.4756G>T p.G1586* Nonsense 31/63 - 1
11-108164184-G-A c.4756G>A p.G1586R Missense 31/63 - 1
11-108164184-G-C c.4756G>C p.G1586R Missense 31/63 - 1
11-108164185-G-C c.4757G>C p.G1586A Missense 31/63 - 1
11-108164194-C-T c.4766C>T p.S1589L Missense 31/63 - 1
11-108164196-C-T c.4768C>T p.L1590F Missense 31/63 - 6
11-108164202-G-C c.4774G>C p.E1592Q Missense 31/63 - 1
11-108164204-G-C c.4776G>C p.E1592D Missense 31/63 - 1
11-108164204-G-T c.4776G>T p.E1592D Missense 31/63 - 1
11-108164205-G-T c.4776+1G>T - IntronicSNV - 31/62 2
11-108164206-T-A c.4776+2T>A - IntronicSNV - 31/62 2
11-108164206-T-C c.4776+2T>C - IntronicSNV - 31/62 4
11-108164206-GTAATAAAAATTT-G c.4776+2_4776+13del - IntronicDeletion - 31/62 1
11-108164223-TCTA-T c.4776+23_4776+25del - IntronicDeletion - 31/62 1
11-108165406-GC-AG c.4777-248_4777-247delinsAG - IntronicBlockSubstitution - 31/62 1
11-108165654-G-T c.4777G>T p.E1593* Nonsense 32/63 - 1
11-108165661-A-G c.4784A>G p.N1595S Missense 32/63 - 1
11-108165662-C-T c.4785C>T p.N1595= Synonymous 32/63 - 1
11-108165666-T-C c.4789T>C p.F1597L Missense 32/63 - 1
11-108165668-T-A c.4791T>A p.F1597L Missense 32/63 - 1
11-108165668-T-G c.4791T>G p.F1597L Missense 32/63 - 1
11-108165669-C-A c.4792C>A p.L1598I Missense 32/63 - 1
11-108165673-C-T c.4796C>T p.S1599L Missense 32/63 - 1
11-108165673-CA-TT c.4796_4797delinsTT p.S1599F Missense 32/63 - 1
11-108165675-AGTAAGTG-A c.4798_4804del p.V1600Ffs*7 Frameshift 32/63 - 1
11-108165676-GT-G c.4799del p.V1600Efs*9 Frameshift 32/63 - 1
11-108165675-G-GT c.4799dup p.S1601Kfs*4 Frameshift 32/63 - 1
11-108165678-A-G c.4801A>G p.S1601G Missense 32/63 - 1
11-108165679-G-A c.4802G>A p.S1601N Missense 32/63 - 1
11-108165678-AGT-A c.4804_4805del p.V1602Lfs*2 Frameshift 32/63 - 2
11-108165688-A-T c.4811A>T p.D1604V Missense 32/63 - 1
11-108165700-T-C c.4823T>C p.L1608S Missense 32/63 - 1
11-108165702-A-G c.4825A>G p.T1609A Missense 32/63 - 5
11-108165702-ACA-GAC c.4825_4827delinsGAC p.T1609D Missense 32/63 - 1
11-108165702-AC-GA c.4825_4826delinsGA p.T1609E Missense 32/63 - 1
11-108165706-G-C c.4829G>C p.R1610T Missense 32/63 - 1
11-108165714-G-T c.4837G>T p.G1613* Nonsense 32/63 - 1
11-108165719-A-ACT c.4842_4843insCT p.K1615Lfs*19 Frameshift 32/63 - 2
11-108165721-AAGGAT-A c.4844_4848del p.K1615Tfs*9 Frameshift 32/63 - 1
11-108165724-A-C c.4847A>C p.D1616A Missense 32/63 - 1
11-108165729-C-T c.4852C>T p.R1618* Nonsense 32/63 - 10
11-108165730-G-A c.4853G>A p.R1618Q Missense 32/63 - 2
11-108165732-A-G c.4855A>G p.R1619G Missense 32/63 - 2
11-108165733-G-A c.4856G>A p.R1619K Missense 32/63 - 1
11-108165745-TACATAA-T c.4870_4875del p.H1624_K1625del InFrameDeletion 32/63 - 2
11-108165747-C-T c.4870C>T p.H1624Y Missense 32/63 - 1
11-108165748-A-G c.4871A>G p.H1624R Missense 32/63 - 1
11-108165751-AAG-A c.4876_4877del p.D1626Sfs*12 Frameshift 32/63 - 1
11-108165753-G-T c.4876G>T p.D1626Y Missense 32/63 - 1
11-108165756-C-T c.4879C>T p.Q1627* Nonsense 32/63 - 1
11-108165759-A-G c.4882A>G p.M1628V Missense 32/63 - 1
11-108165771-A-G c.4894A>G p.M1632V Missense 32/63 - 1
11-108165774-A-G c.4897A>G p.R1633G Missense 32/63 - 1
11-108165778-C-G c.4901C>G p.A1634G Missense 32/63 - 1
11-108165780-T-G c.4903T>G p.S1635A Missense 32/63 - 1
11-108165783-C-T c.4906C>T p.Q1636* Nonsense 32/63 - 3
11-108165786-G-A c.4909G>A p.D1637N Missense 32/63 - 1
11-108165786-G-T c.4909G>T p.D1637Y Missense 32/63 - 1
11-108165787-G-A c.4909+1G>A - IntronicSNV - 32/62 4
11-108167994-T-G c.4910-20T>G - IntronicSNV - 32/62 1
11-108168007-T-A c.4910-7T>A - IntronicSNV - 32/62 1
11-108168007-T-C c.4910-7T>C - IntronicSNV - 32/62 1
11-108168016-A-T c.4912A>T p.N1638Y Missense 33/63 - 1
11-108168019-C-T c.4915C>T p.P1639S Missense 33/63 - 1
11-108168025-G-C c.4921G>C p.D1641H Missense 33/63 - 1
11-108168029-GGGAT-G c.4925_4928del p.G1642Vfs*3 Frameshift 33/63 - 1
11-108168035-T-C c.4931T>C p.M1644T Missense 33/63 - 2
11-108168053-A-G c.4949A>G p.N1650S Missense 33/63 - 4
11-108168056-T-A c.4952T>A p.L1651* Nonsense 33/63 - 1
11-108168059-T-A c.4955T>A p.L1652* Nonsense 33/63 - 1
11-108168061-C-T c.4957C>T p.Q1653* Nonsense 33/63 - 1
11-108168068-C-T c.4964C>T p.S1655F Missense 33/63 - 1
11-108168068-C-A c.4964C>A p.S1655Y Missense 33/63 - 2
11-108168067-TC-T c.4965del p.K1656Rfs*4 Frameshift 33/63 - 2
11-108168070-A-G c.4966A>G p.K1656E Missense 33/63 - 2
11-108168075-G-T c.4971G>T p.M1657I Missense 33/63 - 2
11-108168075-G-C c.4971G>C p.M1657I Missense 33/63 - 1
11-108168075-G-A c.4971G>A p.M1657I Missense 33/63 - 1
11-108168084-C-T c.4980C>T p.N1660= Synonymous 33/63 - 1
11-108168091-G-T c.4987G>T p.G1663C Missense 33/63 - 1
11-108168091-G-A c.4987G>A p.G1663S Missense 33/63 - 1
11-108168102-A-C c.4998A>C p.E1666D Missense 33/63 - 1
11-108168109-G-A c.5005G>A p.E1669K Missense 33/63 - 1
11-108168111-T-C c.5005+2T>C - IntronicSNV - 33/62 2
11-108168116-CTA-C c.5005+7_5005+8del - IntronicDeletion - 33/62 1
11-108168130-G-A c.5005+21G>A - IntronicSNV - 33/62 1
11-108168130-G-GGC c.5005+21_5005+22insGC - IntronicInsertion - 33/62 1
11-108168863-A-G c.5005+754A>G - IntronicSNV - 33/62 3
11-108168995-A-C c.5005+886A>C - IntronicSNV - 33/62 7
11-108170392-G-GT c.5006-48dup - IntronicInsertion - 33/62 1
11-108170411-A-G c.5006-30A>G - IntronicSNV - 33/62 1
11-108170411-A-T c.5006-30A>T - IntronicSNV - 33/62 1
11-108170441-GAGGC-G c.5006_5009del p.E1669Vfs*12 SpliceAcceptorDeletion 34/63 - 1
11-108170442-G-T c.5007G>T p.E1669D Missense 34/63 - 1
11-108170444-C-T c.5009C>T p.A1670V Missense 34/63 - 3
11-108170447-T-C c.5012T>C p.V1671A Missense 34/63 - 1
11-108170450-G-A c.5015G>A p.G1672E Missense 34/63 - 1
11-108170450-G-C c.5015G>C p.G1672A Missense 34/63 - 2
11-108170454-C-G c.5019C>G p.S1673R Missense 34/63 - 1
11-108170454-C-A c.5019C>A p.S1673R Missense 34/63 - 1
11-108170452-A-C c.5017A>C p.S1673R Missense 34/63 - 1
11-108170455-T-C c.5020T>C p.C1674R Missense 34/63 - 1
11-108170456-G-T c.5021G>T p.C1674F Missense 34/63 - 1
11-108170458-T-G c.5023T>G p.L1675V Missense 34/63 - 1
11-108170459-T-C c.5024T>C p.L1675S Missense 34/63 - 1
11-108170460-G-T c.5025G>T p.L1675F Missense 34/63 - 1
11-108170460-G-C c.5025G>C p.L1675F Missense 34/63 - 1
11-108170464-G-T c.5029G>T p.E1677* Nonsense 34/63 - 1
11-108170468-T-G c.5033T>G p.V1678G Missense 34/63 - 1
11-108170474-C-T c.5039C>T p.P1680L Missense 34/63 - 3
11-108170476-A-G c.5041A>G p.I1681V Missense 34/63 - 1
11-108170477-T-C c.5042T>C p.I1681T Missense 34/63 - 1
11-108170479-G-C c.5044G>C p.D1682H Missense 34/63 - 1
11-108170479-G-T c.5044G>T p.D1682Y Missense 34/63 - 2
11-108170481-TTTCTC-T c.5048_5052del p.F1683Yfs*7 Frameshift 34/63 - 1
11-108170491-A-G c.5056A>G p.I1686V Missense 34/63 - 1
11-108170492-T-C c.5057T>C p.I1686T Missense 34/63 - 1
11-108170496-T-C c.5061T>C p.A1687= Synonymous 34/63 - 1
11-108170498-T-C c.5063T>C p.I1688T Missense 34/63 - 4
11-108170506-A-C c.5071A>C p.S1691R Missense 34/63 - 16
11-108170506-A-T c.5071A>T p.S1691C Missense 34/63 - 1
11-108170512-G-A c.5077G>A p.D1693N Missense 34/63 - 1
11-108170524-A-C c.5089A>C p.T1697P Missense 34/63 - 1
11-108170525-C-T c.5090C>T p.T1697I Missense 34/63 - 1
11-108170527-A-T c.5092A>T p.K1698* Nonsense 34/63 - 1
11-108170531-C-T c.5096C>T p.A1699V Missense 34/63 - 1
11-108170530-GC-G c.5098del p.K1701Sfs*13 Frameshift 34/63 - 2
11-108170536-A-C c.5101A>C p.K1701Q Missense 34/63 - 1
11-108170545-TGAAG-T c.5110_5113del p.E1704Ifs*9 Frameshift 34/63 - 1
11-108170547-A-C c.5112A>C p.E1704D Missense 34/63 - 1
11-108170547-A-T c.5112A>T p.E1704D Missense 34/63 - 1
11-108170548-G-A c.5113G>A p.D1705N Missense 34/63 - 1
11-108170553-A-G c.5118A>G p.K1706= Synonymous 34/63 - 1
11-108170550-TAAAG-T c.5118_5121del p.K1706Nfs*7 Frameshift 34/63 - 1
11-108170556-A-C c.5121A>C p.E1707D Missense 34/63 - 1
11-108170560-C-T c.5125C>T p.Q1709* Nonsense 34/63 - 1
11-108170564-G-A c.5129G>A p.W1710* Nonsense 34/63 - 1
11-108170565-G-A c.5130G>A p.W1710* Nonsense 34/63 - 1
11-108170572-A-G c.5137A>G p.I1713V Missense 34/63 - 1
11-108170579-T-C c.5144T>C p.L1715P Missense 34/63 - 1
11-108170582-C-A c.5147C>A p.T1716N Missense 34/63 - 1
11-108170587-C-G c.5152C>G p.L1718V Missense 34/63 - 1
11-108170589-GA-G c.5156del p.N1719Ifs*5 Frameshift 34/63 - 4
11-108170605-G-T c.5170G>T p.E1724* Nonsense 34/63 - 2
11-108170607-A-G c.5172A>G p.E1724= Synonymous 34/63 - 1
11-108170617-G-A c.5177+5G>A - IntronicSNV - 34/62 1
11-108170698-C-T c.5177+86C>T - IntronicSNV - 34/62 1
11-108172376-G-A c.5179G>A p.V1727I Missense 35/63 - 1
11-108172377-T-A c.5180T>A p.V1727D Missense 35/63 - 1
11-108172377-T-C c.5180T>C p.V1727A Missense 35/63 - 1
11-108172382-G-C c.5185G>C p.V1729L Missense 35/63 - 5
11-108172382-G-T c.5185G>T p.V1729F Missense 35/63 - 1
11-108172383-T-C c.5186T>C p.V1729A Missense 35/63 - 1
11-108172385-C-T c.5188C>T p.R1730* Nonsense 35/63 - 10
11-108172386-G-T c.5189G>T p.R1730L Missense 35/63 - 2
11-108172386-G-A c.5189G>A p.R1730Q Missense 35/63 - 3
11-108172392-C-T c.5195C>T p.A1732V Missense 35/63 - 1
11-108172394-G-A c.5197G>A p.A1733T Missense 35/63 - 1
11-108172397-GTT-TAA c.5200_5202delinsTAA p.V1734* Nonsense 35/63 - 1
11-108172400-A-G c.5203A>G p.T1735A Missense 35/63 - 1
11-108172404-G-A c.5207G>A p.C1736Y Missense 35/63 - 1
11-108172408-G-A c.5211G>A p.L1737= Synonymous 35/63 - 1
11-108172412-AACATTTT-A c.5217_5223del p.N1739Kfs*15 Frameshift 35/63 - 1
11-108172415-A-T c.5218A>T p.I1740F Missense 35/63 - 1
11-108172415-A-G c.5218A>G p.I1740V Missense 35/63 - 1
11-108172416-T-A c.5219T>A p.I1740N Missense 35/63 - 1
11-108172416-T-G c.5219T>G p.I1740S Missense 35/63 - 1
11-108172421-G-C c.5224G>C p.A1742P Missense 35/63 - 1
11-108172422-C-T c.5225C>T p.A1742V Missense 35/63 - 1
11-108172424-A-G c.5227A>G p.T1743A Missense 35/63 - 1
11-108172424-A-C c.5227A>C p.T1743P Missense 35/63 - 2
11-108172425-C-T c.5228C>T p.T1743I Missense 35/63 - 11
11-108172424-A-ACT c.5228_5229insTC p.K1744Qfs*13 Frameshift 35/63 - 1
11-108172425-C-G c.5228C>G p.T1743R Missense 35/63 - 1
11-108172426-A-G c.5229A>G p.T1743= Synonymous 35/63 - 1
11-108172432-TG-T c.5237del p.G1746Dfs*10 Frameshift 35/63 - 1
11-108172446-G-A c.5249G>A p.W1750* Nonsense 35/63 - 1
11-108172447-G-A c.5250G>A p.W1750* Nonsense 35/63 - 1
11-108172447-G-T c.5250G>T p.W1750C Missense 35/63 - 1
11-108172449-A-T c.5252A>T p.E1751V Missense 35/63 - 1
11-108172456-T-A c.5259T>A p.Y1753* Nonsense 35/63 - 1
11-108172456-T-G c.5259T>G p.Y1753* Nonsense 35/63 - 1
11-108172459-G-T c.5262G>T p.K1754N Missense 35/63 - 1
11-108172463-A-G c.5266A>G p.T1756A Missense 35/63 - 2
11-108172463-A-T c.5266A>T p.T1756S Missense 35/63 - 1
11-108172464-C-T c.5267C>T p.T1756I Missense 35/63 - 1
11-108172469-G-A c.5272G>A p.D1758N Missense 35/63 - 1
11-108172469-G-C c.5272G>C p.D1758H Missense 35/63 - 1
11-108172471-T-A c.5274T>A p.D1758E Missense 35/63 - 1
11-108172475-A-G c.5278A>G p.M1760V Missense 35/63 - 1
11-108172475-A-T c.5278A>T p.M1760L Missense 35/63 - 2
11-108172475-A-C c.5278A>C p.M1760L Missense 35/63 - 1
11-108172481-G-A c.5284G>A p.A1762T Missense 35/63 - 1
11-108172484-T-TAG c.5288_5289insGA p.Y1763* Nonsense 35/63 - 1
11-108172487-CT-TA c.5290_5291delinsTA p.L1764* Nonsense 35/63 - 2
11-108172487-TC-T c.5290del p.L1764Yfs*12 Frameshift 35/63 - 3
11-108172499-AG-CT c.5302_5303inv p.R1768L Missense 35/63 - 1
11-108172502-A-G c.5305A>G p.T1769A Missense 35/63 - 1
11-108172513-A-AT c.5316_5317insT p.K1773* Nonsense 35/63 - 1
11-108172509-GA-G c.5318del p.K1773Sfs*3 Frameshift 35/63 - 2
11-108172517-G-A c.5319+1G>A - IntronicSNV - 35/62 1
11-108172518-T-C c.5319+2T>C - IntronicSNV - 35/62 1
11-108172546-A-G c.5319+30A>G - IntronicSNV - 35/62 1
11-108173584-T-G c.5324T>G p.L1775* Nonsense 36/63 - 1
11-108173589-G-A c.5329G>A p.V1777I Missense 36/63 - 1
11-108173601-G-C c.5341G>C p.D1781H Missense 36/63 - 2
11-108173605-A-G c.5345A>G p.K1782R Missense 36/63 - 1
11-108173607-G-T c.5347G>T p.E1783* Nonsense 36/63 - 1
11-108173603-CAAAG-C c.5347_5350del p.E1783Tfs*9 Frameshift 36/63 - 2
11-108173582-T-TTTAGAAGTACCCAGATTTGACAAAGAACATGATTTTCAC c.5349_5350insCATGATTTTCACTTAGAAGTACCCAGATTTGACAAAGAA p.E1783_N1784insHDFHLEVPRFDKE InFrameInsertion 36/63 - 1
11-108173622-G-A c.5362G>A p.G1788S Missense 36/63 - 3
11-108173628-G-A c.5368G>A p.D1790N Missense 36/63 - 2
11-108173628-G-C c.5368G>C p.D1790H Missense 36/63 - 2
11-108173629-A-G c.5369A>G p.D1790G Missense 36/63 - 2
11-108173631-G-A c.5371G>A p.D1791N Missense 36/63 - 1
11-108173635-T-C c.5375T>C p.I1792T Missense 36/63 - 1
11-108173640-C-T c.5380C>T p.L1794= Synonymous 36/63 - 1
11-108173641-T-G c.5381T>G p.L1794R Missense 36/63 - 1
11-108173640-CTG-C c.5383_5384del p.W1795Dfs*5 Frameshift 36/63 - 1
11-108173644-G-A c.5384G>A p.W1795* Nonsense 36/63 - 1
11-108173645-G-A c.5385G>A p.W1795* Nonsense 36/63 - 1
11-108173645-G-T c.5385G>T p.W1795C Missense 36/63 - 1
11-108173647-T-G c.5387T>G p.I1796S Missense 36/63 - 2
11-108173647-T-C c.5387T>C p.I1796T Missense 36/63 - 1
11-108173653-T-C c.5393T>C p.L1798P Missense 36/63 - 1
11-108173655-AG-CT c.5395_5396inv p.S1799L Missense 36/63 - 1
11-108173657-T-C c.5397T>C p.S1799= Synonymous 36/63 - 1
11-108173661-A-T c.5401A>T p.N1801Y Missense 36/63 - 1
11-108173661-A-G c.5401A>G p.N1801D Missense 36/63 - 1
11-108173666-T-C c.5406T>C p.H1802= Synonymous 36/63 - 1
11-108173673-T-C c.5413T>C p.W1805R Missense 36/63 - 1
11-108173674-G-A c.5414G>A p.W1805* Nonsense 36/63 - 1
11-108173675-G-A c.5415G>A p.W1805* Nonsense 36/63 - 2
11-108173677-T-C c.5417T>C p.I1806T Missense 36/63 - 1
11-108173678-A-G c.5418A>G p.I1806M Missense 36/63 - 1
11-108173684-A-G c.5424A>G p.T1808= Synonymous 36/63 - 1
11-108173686-T-C c.5426T>C p.L1809P Missense 36/63 - 1
11-108173690-T-C c.5430T>C p.T1810= Synonymous 36/63 - 1
11-108173695-C-T c.5435C>T p.A1812V Missense 36/63 - 7
11-108173695-GC-G c.5435del p.A1812Vfs*16 Frameshift 36/63 - 1
11-108173696-T-C c.5436T>C p.A1812= Synonymous 36/63 - 1
11-108173701-T-A c.5441T>A p.L1814* Nonsense 36/63 - 3
11-108173695-CT-C c.5441del p.L1814Wfs*14 Frameshift 36/63 - 4
11-108173702-G-T c.5442G>T p.L1814F Missense 36/63 - 1
11-108173702-G-C c.5442G>C p.L1814F Missense 36/63 - 1
11-108173703-G-A c.5443G>A p.D1815N Missense 36/63 - 1
11-108173703-G-T c.5443G>T p.D1815Y Missense 36/63 - 1
11-108173701-TG-T c.5443del p.D1815Tfs*13 Frameshift 36/63 - 1
11-108173706-A-G c.5446A>G p.S1816G Missense 36/63 - 1
11-108173724-G-T c.5464G>T p.E1822* Nonsense 36/63 - 2
11-108173724-G-C c.5464G>C p.E1822Q Missense 36/63 - 1
11-108173730-C-A c.5470C>A p.L1824I Missense 36/63 - 1
11-108173730-C-T c.5470C>T p.L1824F Missense 36/63 - 3
11-108173731-T-C c.5471T>C p.L1824P Missense 36/63 - 1
11-108173731-T-G c.5471T>G p.L1824R Missense 36/63 - 1
11-108173733-C-G c.5473C>G p.Q1825E Missense 36/63 - 1
11-108173734-A-G c.5474A>G p.Q1825R Missense 36/63 - 1
11-108173744-G-A c.5484G>A p.K1828= Synonymous 36/63 - 1
11-108173745-C-T c.5485C>T p.P1829S Missense 36/63 - 2
11-108173748-A-G c.5488A>G p.M1830V Missense 36/63 - 3
11-108173754-GAAGT-G c.5496+2_5496+5del - IntronicDeletion - 36/62 2
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-C c.5497-15G>C - IntronicSNV - 36/62 3
11-108175387-G-T c.5497-15G>T - IntronicSNV - 36/62 3
11-108175394-T-C c.5497-8T>C - IntronicSNV - 36/62 6
11-108175398-C-G c.5497-4C>G - IntronicSNV - 36/62 1
11-108175402-G-A c.5497G>A p.V1833M Missense 37/63 - 1
11-108175406-A-G c.5501A>G p.K1834R Missense 37/63 - 1
11-108175414-T-G c.5509T>G p.F1837V Missense 37/63 - 1
11-108175413-CTT-C c.5511_5512del p.F1837Lfs*11 Frameshift 37/63 - 1
11-108175420-C-T c.5515C>T p.Q1839* Nonsense 37/63 - 7
11-108175422-G-T c.5517G>T p.Q1839H Missense 37/63 - 1
11-108175422-G-C c.5517G>C p.Q1839H Missense 37/63 - 1
11-108175422-G-GAT c.5518_5519insTA p.T1840Ifs*7 Frameshift 37/63 - 1
11-108175429-C-T c.5524C>T p.L1842F Missense 37/63 - 1
11-108175431-TC-T c.5528del p.P1843Hfs*3 Frameshift 37/63 - 1
11-108175433-C-G c.5528C>G p.P1843R Missense 37/63 - 1
11-108175433-C-T c.5528C>T p.P1843L Missense 37/63 - 1
11-108175449-T-G c.5544T>G p.D1848E Missense 37/63 - 1
11-108175450-ATT-TAA c.5545_5547delinsTAA p.I1849* Nonsense 37/63 - 1
11-108175452-T-A c.5547T>A p.I1849= Synonymous 37/63 - 1
11-108175450-AT-A c.5549del p.L1850Yfs*67 Frameshift 37/63 - 2
11-108175456-C-G c.5551C>G p.L1851V Missense 37/63 - 1
11-108175459-C-T c.5554C>T p.Q1852* Nonsense 37/63 - 4
11-108175461-A-G c.5556A>G p.Q1852= Synonymous 37/63 - 1
11-108175462-G-A c.5557G>A p.D1853N Missense 37/63 - 201
11-108175462-GAT-CAA c.5557_5559delinsCAA p.D1853Q Missense 37/63 - 2
11-108175463-A-T c.5558A>T p.D1853V Missense 37/63 - 39
11-108175471-G-C c.5566G>C p.E1856Q Missense 37/63 - 1
11-108175474-T-C c.5569T>C p.S1857P Missense 37/63 - 1
11-108175477-T-C c.5572T>C p.W1858R Missense 37/63 - 2
11-108175477-T-A c.5572T>A p.W1858R Missense 37/63 - 1
11-108175478-G-A c.5573G>A p.W1858* Nonsense 37/63 - 4
11-108175479-G-A c.5574G>A p.W1858* Nonsense 37/63 - 2
11-108175479-G-T c.5574G>T p.W1858C Missense 37/63 - 2
11-108175479-G-C c.5574G>C p.W1858C Missense 37/63 - 1
11-108175490-T-A c.5585T>A p.L1862H Missense 37/63 - 4
11-108175489-CT-C c.5587del p.S1863Lfs*54 Frameshift 37/63 - 1
11-108175493-C-T c.5588C>T p.S1863F Missense 37/63 - 1
11-108175500-T-A c.5595T>A p.H1865Q Missense 37/63 - 1
11-108175500-T-G c.5595T>G p.H1865Q Missense 37/63 - 1
11-108175504-C-T c.5599C>T p.Q1867* Nonsense 37/63 - 1
11-108175505-A-C c.5600A>C p.Q1867P Missense 37/63 - 1
11-108175505-A-AG c.5603dup p.F1869Ifs*35 Frameshift 37/63 - 1
11-108175513-T-C c.5608T>C p.F1870L Missense 37/63 - 1
11-108175513-T-G c.5608T>G p.F1870V Missense 37/63 - 1
11-108175517-C-T c.5612C>T p.T1871I Missense 37/63 - 1
11-108175528-C-T c.5623C>T p.R1875* Nonsense 37/63 - 25
11-108175528-C-A c.5623C>A p.R1875= Synonymous 37/63 - 2
11-108175532-A-G c.5627A>G p.H1876R Missense 37/63 - 1
11-108175533-C-A c.5628C>A p.H1876Q Missense 37/63 - 2
11-108175533-C-G c.5628C>G p.H1876Q Missense 37/63 - 2
11-108175535-T-G c.5630T>G p.F1877C Missense 37/63 - 1
11-108175536-CTCGC-A c.5631_5635delinsA p.F1877Lfs*39 Frameshift 37/63 - 1
11-108175537-TCG-GAC c.5632_5634delinsGAC p.S1878D Missense 37/63 - 1
11-108175535-TCTCG-T c.5632_5635del p.S1878Kfs*38 Frameshift 37/63 - 1
11-108175538-C-T c.5633C>T p.S1878L Missense 37/63 - 2
11-108175544-C-G c.5639C>G p.T1880R Missense 37/63 - 2
11-108175544-C-T c.5639C>T p.T1880M Missense 37/63 - 2
11-108175549-C-T c.5644C>T p.R1882* Nonsense 37/63 - 8
11-108175550-G-A c.5645G>A p.R1882Q Missense 37/63 - 1
11-108175550-G-C c.5645G>C p.R1882P Missense 37/63 - 1
11-108175552-TCCACAACC-T c.5650_5657del p.T1884Cfs*17 Frameshift 37/63 - 1
11-108175556-CA-C c.5653del p.T1885Pfs*32 Frameshift 37/63 - 1
11-108175560-C-T c.5655C>T p.T1885= Synonymous 37/63 - 1
11-108175560-C-G c.5655C>G p.T1885= Synonymous 37/63 - 1
11-108175560-C-A c.5655C>A p.T1885= Synonymous 37/63 - 1
11-108175565-C-T c.5660C>T p.A1887V Missense 37/63 - 1
11-108175568-A-C c.5663A>C p.N1888T Missense 37/63 - 1
11-108175572-G-T c.5667G>T p.L1889F Missense 37/63 - 1
11-108175576-T-C c.5671T>C p.S1891P Missense 37/63 - 1
11-108175576-T-A c.5671T>A p.S1891T Missense 37/63 - 1
11-108175576-T-G c.5671T>G p.S1891A Missense 37/63 - 1
11-108175579-G-T c.5674G>T p.E1892* Nonsense 37/63 - 1
11-108175580-G-T c.5674+1G>T - IntronicSNV - 37/62 1
11-108177097-T-C c.5674+1518T>C - IntronicSNV - 37/62 8
11-108177097-T-A c.5674+1518T>A - IntronicSNV - 37/62 8
11-108177538-C-T c.5675-1086C>T - IntronicSNV - 37/62 2
11-108178576-T-C c.5675-48T>C - IntronicSNV - 37/62 1
11-108178624-GAGTCAGAGCACTTTTTCCGATGCTGTTTGGATAAAAAATCACAAAGAACAATGCTTGCT-G c.5675_5733del p.E1892Gfs*18 Unclassified 38/63 - 1
11-108178626-TC-GA c.5677_5678inv p.S1893E Missense 38/63 - 1
11-108178626-T-G c.5677T>G p.S1893A Missense 38/63 - 4
11-108178626-T-C c.5677T>C p.S1893P Missense 38/63 - 1
11-108178633-A-G c.5684A>G p.H1895R Missense 38/63 - 1
11-108178641-C-T c.5692C>T p.R1898* Nonsense 38/63 - 13
11-108178642-G-A c.5693G>A p.R1898Q Missense 38/63 - 4
11-108178646-C-A c.5697C>A p.C1899* Nonsense 38/63 - 8
11-108178646-C-CA c.5697_5698insA p.C1900Mfs*4 Frameshift 38/63 - 1
11-108178647-TG-AC c.5698_5699delinsAC p.C1900T Missense 38/63 - 1
11-108178652-G-GT c.5703_5704insT p.D1902* Nonsense 38/63 - 1
11-108178653-GGA-G c.5704_5705del p.D1902* Frameshift 38/63 - 1
11-108178653-G-T c.5704G>T p.D1902Y Missense 38/63 - 1
11-108178656-A-G c.5707A>G p.K1903E Missense 38/63 - 1
11-108178655-T-TA c.5712dup p.S1905Ifs*25 Frameshift 38/63 - 16
11-108178662-TC-AT c.5713_5714delinsAT p.S1905I Missense 38/63 - 2
11-108178663-C-T c.5714C>T p.S1905L Missense 38/63 - 1
11-108178663-C-A c.5714C>A p.S1905* Nonsense 38/63 - 1
11-108178663-C-G c.5714C>G p.S1905* Nonsense 38/63 - 1
11-108178665-C-T c.5716C>T p.Q1906* Nonsense 38/63 - 1
11-108178666-A-G c.5717A>G p.Q1906R Missense 38/63 - 1
11-108178669-G-A c.5720G>A p.R1907K Missense 38/63 - 1
11-108178672-AC-A c.5723del p.T1908Kfs*9 Frameshift 38/63 - 1
11-108178672-C-T c.5723C>T p.T1908I Missense 38/63 - 1
11-108178674-A-G c.5725A>G p.M1909V Missense 38/63 - 1
11-108178677-C-A c.5728C>A p.L1910I Missense 38/63 - 2
11-108178690-A-G c.5741A>G p.D1914G Missense 38/63 - 2
11-108178693-A-G c.5744A>G p.Y1915C Missense 38/63 - 1
11-108178694-C-A c.5745C>A p.Y1915* Nonsense 38/63 - 1
11-108178698-A-T c.5749A>T p.R1917* Nonsense 38/63 - 1
11-108178699-G-C c.5750G>C p.R1917T Missense 38/63 - 4
11-108178699-G-A c.5750G>A p.R1917K Missense 38/63 - 3
11-108178699-GA-G c.5752del p.R1918Dfs*19 Frameshift 38/63 - 1
11-108178702-G-A c.5753G>A p.R1918K Missense 38/63 - 1
11-108178702-G-C c.5753G>C p.R1918T Missense 38/63 - 1
11-108178705-A-C c.5756A>C p.Q1919P Missense 38/63 - 8
11-108178711-G-A c.5762G>A p.R1921K Missense 38/63 - 2
11-108178712-G-A c.5762+1G>A - IntronicSNV - 38/62 1
11-108178712-G-C c.5762+1G>C - IntronicSNV - 38/62 1
11-108178712-G-T c.5762+1G>T - IntronicSNV - 38/62 1
11-108178717-G-A c.5762+6G>A - IntronicSNV - 38/62 1
11-108178738-G-A c.5762+27G>A - IntronicSNV - 38/62 2
11-108178767-T-C c.5762+56T>C - IntronicSNV - 38/62 1
11-108179837-A-G c.5763-1050A>G - IntronicSNV - 38/62 1
11-108180886-G-GA c.5763dup p.P1922Tfs*8 SpliceAcceptorInsertion 39/63 - 1
11-108180887-A-AG c.5763_5764insG p.P1922Afs*8 SpliceAcceptorInsertion 39/63 - 1
11-108180887-A-AT c.5763_5764insT p.P1922Sfs*8 SpliceAcceptorInsertion 39/63 - 1
11-108180889-C-A c.5765C>A p.P1922H Missense 39/63 - 1
11-108180888-CCTT-C c.5769_5771del p.S1924del InFrameDeletion 39/63 - 1
11-108180895-C-A c.5771C>A p.S1924* Nonsense 39/63 - 2
11-108180895-C-G c.5771C>G p.S1924* Nonsense 39/63 - 1
11-108180896-AG-A c.5774del p.G1925Efs*12 Frameshift 39/63 - 1
11-108180900-A-G c.5776A>G p.T1926A Missense 39/63 - 2
11-108180900-AACAATTTTTAATGAT-A c.5776_5790del p.T1926_D1930del InFrameDeletion 39/63 - 1
11-108180903-AT-A c.5784del p.F1928Lfs*9 Frameshift 39/63 - 1
11-108180909-AATG-A c.5789_5791del p.D1930del InFrameDeletion 39/63 - 1
11-108180917-T-C c.5793T>C p.A1931= Synonymous 39/63 - 9
11-108180917-T-G c.5793T>G p.A1931= Synonymous 39/63 - 8
11-108180917-T-A c.5793T>A p.A1931= Synonymous 39/63 - 2
11-108180922-G-A c.5798G>A p.W1933* Nonsense 39/63 - 2
11-108180923-G-A c.5799G>A p.W1933* Nonsense 39/63 - 2
11-108180927-G-C c.5803G>C p.D1935H Missense 39/63 - 1
11-108180931-T-C c.5807T>C p.L1936S Missense 39/63 - 1
11-108180932-A-T c.5808A>T p.L1936F Missense 39/63 - 1
11-108180939-C-G c.5815C>G p.L1939V Missense 39/63 - 1
11-108180942-G-T c.5818G>T p.E1940* Nonsense 39/63 - 1
11-108180945-G-C c.5821G>C p.V1941L Missense 39/63 - 4
11-108180945-G-GT c.5823dup p.A1942Cfs*23 Frameshift 39/63 - 1
11-108180948-G-T c.5824G>T p.A1942S Missense 39/63 - 1
11-108180949-C-T c.5825C>T p.A1942V Missense 39/63 - 6
11-108180950-CCAAG-C c.5826_5829del p.K1943* Frameshift 39/63 - 1
11-108180954-G-A c.5830G>A p.V1944I Missense 39/63 - 1
11-108180958-GCTCAGTCTTGTGCTGCTCACT-G c.5834_5854del p.A1945_F1952delinsV MultiAAMissense 39/63 - 1
11-108180958-C-T c.5834C>T p.A1945V Missense 39/63 - 1
11-108180964-C-A c.5840C>A p.S1947Y Missense 39/63 - 1
11-108180964-C-T c.5840C>T p.S1947F Missense 39/63 - 1
11-108180975-C-T c.5851C>T p.H1951Y Missense 39/63 - 1
11-108180976-A-C c.5852A>C p.H1951P Missense 39/63 - 1
11-108180978-T-C c.5854T>C p.F1952L Missense 39/63 - 1
11-108180978-T-A c.5854T>A p.F1952I Missense 39/63 - 1
11-108180982-C-G c.5858C>G p.T1953R Missense 39/63 - 1
11-108180982-C-T c.5858C>T p.T1953I Missense 39/63 - 2
11-108180985-C-G c.5861C>G p.A1954G Missense 39/63 - 1
11-108180986-T-C c.5862T>C p.A1954= Synonymous 39/63 - 1
11-108180991-T-A c.5867T>A p.L1956H Missense 39/63 - 2
11-108180992-CTA-C c.5870_5871del p.Y1957Cfs*7 Frameshift 39/63 - 1
11-108180998-A-G c.5874A>G p.A1958= Synonymous 39/63 - 1
11-108180999-G-A c.5875G>A p.E1959K Missense 39/63 - 1
11-108181003-T-A c.5879T>A p.I1960N Missense 39/63 - 2
11-108181006-A-G c.5882A>G p.Y1961C Missense 39/63 - 5
11-108181011-G-A c.5887G>A p.D1963N Missense 39/63 - 3
11-108181012-A-G c.5888A>G p.D1963G Missense 39/63 - 1
11-108181014-A-G c.5890A>G p.K1964E Missense 39/63 - 5
11-108181014-A-T c.5890A>T p.K1964* Nonsense 39/63 - 2
11-108181016-G-C c.5892G>C p.K1964N Missense 39/63 - 1
11-108181019-A-T c.5895A>T p.K1965N Missense 39/63 - 1
11-108181021-GTA-G c.5899_5900del p.M1967Gfs*2 Frameshift 39/63 - 1
11-108181029-G-T c.5905G>T p.D1969Y Missense 39/63 - 1
11-108181032-C-T c.5908C>T p.Q1970* Nonsense 39/63 - 8
11-108181035-AG-A c.5911del p.E1971Rfs*19 Frameshift 39/63 - 1
11-108181035-G-A c.5911G>A p.E1971K Missense 39/63 - 2
11-108181036-A-G c.5912A>G p.E1971G Missense 39/63 - 1
11-108181041-A-G c.5917A>G p.R1973G Missense 39/63 - 1
11-108181037-GA-G c.5917del p.R1973Efs*17 Frameshift 39/63 - 1
11-108181043-G-A c.5918+1G>A - IntronicSNV - 39/62 1
11-108181079-T-C c.5918+37T>C - IntronicSNV - 39/62 1
11-108181114-A-G c.5918+72A>G - IntronicSNV - 39/62 1
11-108181511-A-C c.5918+469A>C - IntronicSNV - 39/62 1
11-108181511-A-T c.5918+469A>T - IntronicSNV - 39/62 1
11-108182069-G-A c.5918+1027G>A - IntronicSNV - 39/62 1
11-108183136-A-C c.5919-2A>C - IntronicSNV - 39/62 1
11-108183136-A-G c.5919-2A>G - IntronicSNV - 39/62 1
11-108183139-AAGT-A c.5920_5922del p.S1974del InFrameDeletion 40/63 - 1
11-108183149-T-C c.5930T>C p.F1977S Missense 40/63 - 1
11-108183147-AT-A c.5931del p.F1977Lfs*13 Frameshift 40/63 - 2
11-108183151-G-T c.5932G>T p.E1978* Nonsense 40/63 - 54
11-108183152-A-T c.5933A>T p.E1978V Missense 40/63 - 1
11-108183153-A-AT c.5934_5935insT p.E1979* Nonsense 40/63 - 1
11-108183154-G-T c.5935G>T p.E1979* Nonsense 40/63 - 1
11-108183154-G-GA c.5937dup p.G1980Rfs*9 Frameshift 40/63 - 1
11-108183157-G-A c.5938G>A p.G1980R Missense 40/63 - 1
11-108183160-AG-GC c.5941_5942delinsGC p.S1981A Missense 40/63 - 25
11-108183160-AG-CC c.5941_5942delinsCC p.S1981P Missense 40/63 - 46
11-108183160-AGC-GAG c.5941_5943delinsGAG p.S1981E Missense 40/63 - 1
11-108183160-AG-GA c.5941_5942delinsGA p.S1981D Missense 40/63 - 1
11-108183162-C-T c.5943C>T p.S1981= Synonymous 40/63 - 1
11-108183163-C-T c.5944C>T p.Q1982* Nonsense 40/63 - 2
11-108183164-A-G c.5945A>G p.Q1982R Missense 40/63 - 2
11-108183165-AG-A c.5946del p.N1983Ifs*7 Frameshift 40/63 - 1
11-108183167-A-G c.5948A>G p.N1983S Missense 40/63 - 11
11-108183172-A-G c.5953A>G p.T1985A Missense 40/63 - 1
11-108183172-ACT-GAG c.5953_5955delinsGAG p.T1985E Missense 40/63 - 1
11-108183173-C-T c.5954C>T p.T1985I Missense 40/63 - 1
11-108183175-A-G c.5956A>G p.I1986V Missense 40/63 - 2
11-108183178-T-G c.5959T>G p.S1987A Missense 40/63 - 12
11-108183178-T-C c.5959T>C p.S1987P Missense 40/63 - 5
11-108183178-TC-GA c.5959_5960inv p.S1987D Missense 40/63 - 1
11-108183181-AG-GC c.5962_5963delinsGC p.S1988A Missense 40/63 - 1
11-108183181-AG-GA c.5962_5963delinsGA