ATM

ATM ATM serine/threonine kinase

Annotation transcript: NM_000051.4

14293 unique variant annotations were identified in 6571 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
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 - 81
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
11-108094538-G-A c.-31+625G>A - 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 2
11-108095246-C-T c.-31+1333C>T - 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 12
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 7
11-108098142-C-T c.-30-180C>T - IntronicSNV - 1/62 1
11-108093794-A-C c.-150A>C - IntronicSNV 1/63 - 1
11-108093797-T-C c.-147T>C - IntronicSNV 1/63 - 1
11-108098223-A-C c.-129A>C - IntronicSNV 1/63 - 1
11-108098243-A-G c.-30-79A>G - IntronicSNV - 1/62 2
11-108098318-A-G c.-30-4A>G - IntronicSNV - 1/62 1
11-108098321-G-T c.-30-1G>T - IntronicSNV - 1/62 1
11-108098352-A-C c.1A>C p.M1? Missense 2/63 - 6
11-108098352-A-G c.1A>G p.M1? Missense 2/63 - 15
11-108098352-A-T c.1A>T p.M1? Missense 2/63 - 2
11-108098352-CA-C c.1del p.M1? CdsStartDeletion 2/63 - 1
11-108098352-A-AT c.2dup p.M1? Frameshift 2/63 - 1
11-108098353-T-A c.2T>A p.M1? Missense 2/63 - 1
11-108098353-T-C c.2T>C p.M1? Missense 2/63 - 18
11-108098354-G-A c.3G>A p.M1? Missense 2/63 - 13
11-108098354-G-C c.3G>C p.M1? Missense 2/63 - 4
11-108098354-G-T c.3G>T p.M1? Missense 2/63 - 6
11-108098355-A-G c.4A>G p.S2G Missense 2/63 - 2
11-108098355-AG-TT c.4_5delinsTT p.S2F Missense 2/63 - 1
11-108098355-GAGT-G c.4_6del p.S2del InFrameDeletion 2/63 - 1
11-108098354-GAGTCTAGTACTTAATGATCTGCTTATCTGCTGCCGTCAACTAGAACATGATAGAGCTAC-G c.6_64del p.S2Rfs*7 InFrameDeletion 2/63 - 1
11-108098356-G-A c.5G>A p.S2N Missense 2/63 - 2
11-108098356-G-C c.5G>C p.S2T Missense 2/63 - 1
11-108098356-G-T c.5G>T p.S2I Missense 2/63 - 2
11-108098355-A-C c.4A>C p.S2R Missense 2/63 - 1
11-108098357-T-A c.6T>A p.S2R Missense 2/63 - 1
11-108098357-T-C c.6T>C p.S2= Synonymous 2/63 - 1
11-108098357-T-G c.6T>G p.S2R Missense 2/63 - 1
11-108098358-C-G c.7C>G p.L3V Missense 2/63 - 3
11-108098358-C-T c.7C>T p.L3= Synonymous 2/63 - 1
11-108098358-CTA-ATG c.7_9delinsATG p.L3M Missense 2/63 - 1
11-108098358-CTA-TTT c.7_9delinsTTT p.L3F Missense 2/63 - 1
11-108098359-CT-C c.8del p.L3Qfs*13 Frameshift 2/63 - 3
11-108098359-T-A c.8T>A p.L3Q Missense 2/63 - 1
11-108098359-T-C c.8T>C p.L3P Missense 2/63 - 2
11-108098361-G-A c.10G>A p.V4I Missense 2/63 - 2
11-108098361-G-C c.10G>C p.V4L Missense 2/63 - 3
11-108098361-G-T c.10G>T p.V4L Missense 2/63 - 2
11-108098361-G-GT c.11dup p.L5Tfs*2 Frameshift 2/63 - 1
11-108098362-T-C c.11T>C p.V4A Missense 2/63 - 2
11-108098363-A-C c.12A>C p.V4= Synonymous 2/63 - 1
11-108098363-A-G c.12A>G p.V4= Synonymous 2/63 - 2
11-108098363-A-T c.12A>T p.V4= Synonymous 2/63 - 1
11-108098364-C-A c.13C>A p.L5I Missense 2/63 - 1
11-108098365-T-G c.14T>G p.L5R Missense 2/63 - 1
11-108098364-C-CT c.15dup p.N6* Nonsense 2/63 - 5
11-108098367-AAT-TAA c.16_18delinsTAA p.N6* Nonsense 2/63 - 1
11-108098367-A-G c.16A>G p.N6D Missense 2/63 - 1
11-108098367-A-T c.16A>T p.N6Y Missense 2/63 - 2
11-108098366-T-TA c.17dup p.N6Kfs*2 Frameshift 2/63 - 1
11-108098368-A-G c.17A>G p.N6S Missense 2/63 - 1
11-108098369-T-C c.18T>C p.N6= Synonymous 2/63 - 3
11-108098370-G-A c.19G>A p.D7N Missense 2/63 - 1
11-108098370-GAT-TAA c.19_21delinsTAA p.D7* Nonsense 2/63 - 1
11-108098370-G-C c.19G>C p.D7H Missense 2/63 - 1
11-108098370-G-T c.19G>T p.D7Y Missense 2/63 - 2
11-108098371-A-G c.20A>G p.D7G Missense 2/63 - 1
11-108098373-C-G c.22C>G p.L8V Missense 2/63 - 1
11-108098373-C-T c.22C>T p.L8= Synonymous 2/63 - 2
11-108098373-CT-AA c.22_23delinsAA p.L8K Missense 2/63 - 1
11-108098374-T-C c.23T>C p.L8P Missense 2/63 - 2
11-108098374-T-G c.23T>G p.L8R Missense 2/63 - 1
11-108098375-G-A c.24G>A p.L8= Synonymous 2/63 - 1
11-108098375-G-C c.24G>C p.L8= Synonymous 2/63 - 1
11-108098375-G-T c.24G>T p.L8= Synonymous 2/63 - 1
11-108098376-C-G c.25C>G p.L9V Missense 2/63 - 1
11-108098376-C-T c.25C>T p.L9F Missense 2/63 - 2
11-108098376-CT-AG c.25_26inv p.L9S Missense 2/63 - 1
11-108098376-GC-G c.25del p.I10Sfs*6 Frameshift 2/63 - 1
11-108098377-T-A c.26T>A p.L9H Missense 2/63 - 1
11-108098377-T-C c.26T>C p.L9P Missense 2/63 - 1
11-108098376-CT-C c.27del p.I10Sfs*6 Frameshift 2/63 - 1
11-108098379-A-C c.28A>C p.I10L Missense 2/63 - 2
11-108098379-A-G c.28A>G p.I10V Missense 2/63 - 1
11-108098379-A-T c.28A>T p.I10F Missense 2/63 - 1
11-108098379-ATC-TAA c.28_30delinsTAA p.I10* Nonsense 2/63 - 1
11-108098379-AT-GC c.28_29delinsGC p.I10A Missense 2/63 - 1
11-108098380-T-C c.29T>C p.I10T Missense 2/63 - 3
11-108098381-C-A c.30C>A p.I10= Synonymous 2/63 - 1
11-108098381-C-G c.30C>G p.I10M Missense 2/63 - 2
11-108098382-T-A c.31T>A p.C11S Missense 2/63 - 1
11-108098382-T-C c.31T>C p.C11R Missense 2/63 - 1
11-108098382-TG-AC c.31_32delinsAC p.C11T Missense 2/63 - 2
11-108098382-TG-GC c.31_32delinsGC p.C11A Missense 2/63 - 3
11-108098383-G-C c.32G>C p.C11S Missense 2/63 - 1
11-108098383-G-A c.32G>A p.C11Y Missense 2/63 - 1
11-108098383-G-T c.32G>T p.C11F Missense 2/63 - 2
11-108098384-C-A c.33C>A p.C11* Nonsense 2/63 - 2
11-108098384-C-T c.33C>T p.C11= Synonymous 2/63 - 5
11-108098385-T-C c.34T>C p.C12R Missense 2/63 - 6
11-108098385-TG-AA c.34_35delinsAA p.C12N Missense 2/63 - 1
11-108098385-TG-AC c.34_35delinsAC p.C12T Missense 2/63 - 1
11-108098385-TG-CA c.34_35inv p.C12H Missense 2/63 - 1
11-108098385-TGC-ATG c.34_36delinsATG p.C12M Missense 2/63 - 4
11-108098385-TG-GA c.34_35delinsGA p.C12D Missense 2/63 - 1
11-108098385-TG-GC c.34_35delinsGC p.C12A Missense 2/63 - 2
11-108098386-G-A c.35G>A p.C12Y Missense 2/63 - 3
11-108098386-G-C c.35G>C p.C12S Missense 2/63 - 1
11-108098386-G-T c.35G>T p.C12F Missense 2/63 - 9
11-108098387-C-A c.36C>A p.C12* Nonsense 2/63 - 2
11-108098387-C-T c.36C>T p.C12= Synonymous 2/63 - 4
11-108098388-C-G c.37C>G p.R13G Missense 2/63 - 1
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 - 3
11-108098388-C-T c.37C>T p.R13C Missense 2/63 - 10
11-108098387-CCGT-C c.38_40del p.R13del InFrameDeletion 2/63 - 1
11-108098389-G-A c.38G>A p.R13H Missense 2/63 - 15
11-108098389-G-T c.38G>T p.R13L Missense 2/63 - 5
11-108098389-GT-AA c.38_39delinsAA p.R13Q Missense 2/63 - 1
11-108098390-T-A c.39T>A p.R13= Synonymous 2/63 - 1
11-108098390-T-C c.39T>C p.R13= Synonymous 2/63 - 1
11-108098390-T-G c.39T>G p.R13= Synonymous 2/63 - 1
11-108098390-T-TC c.40dup p.Q14Pfs*5 Frameshift 2/63 - 1
11-108098391-CAA-GAC c.40_42delinsGAC p.Q14D Missense 2/63 - 3
11-108098391-C-T c.40C>T p.Q14* Nonsense 2/63 - 2
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 - 4
11-108098392-A-T c.41A>T p.Q14L Missense 2/63 - 2
11-108098391-C-CAAT c.42_43insTAA p.Q14_L15ins* InFrameInsertion 2/63 - 1
11-108098393-A-C c.42A>C p.Q14H Missense 2/63 - 1
11-108098393-A-G c.42A>G p.Q14= Synonymous 2/63 - 1
11-108098393-A-T c.42A>T p.Q14H Missense 2/63 - 1
11-108098394-AC-A c.43del p.L15* Frameshift 2/63 - 6
11-108098394-C-T c.43C>T p.L15= Synonymous 2/63 - 1
11-108098394-CTA-TTT c.43_45delinsTTT p.L15F Missense 2/63 - 1
11-108098394-CT-GA c.43_44delinsGA p.L15E Missense 2/63 - 1
11-108098395-T-A c.44T>A p.L15Q Missense 2/63 - 3
11-108098395-T-C c.44T>C p.L15P Missense 2/63 - 2
11-108098395-T-G c.44T>G p.L15R Missense 2/63 - 5
11-108098396-A-C c.45A>C p.L15= Synonymous 2/63 - 1
11-108098397-AG-A c.46del p.E16Nfs*18 Frameshift 2/63 - 1
11-108098397-G-A c.46G>A p.E16K Missense 2/63 - 3
11-108098397-G-C c.46G>C p.E16Q Missense 2/63 - 1
11-108098397-G-T c.46G>T p.E16* Nonsense 2/63 - 2
11-108098398-A-C c.47A>C p.E16A Missense 2/63 - 1
11-108098398-A-G c.47A>G p.E16G Missense 2/63 - 2
11-108098398-A-T c.47A>T p.E16V Missense 2/63 - 1
11-108098399-A-G c.48A>G p.E16= Synonymous 2/63 - 1
11-108098400-C-A c.49C>A p.H17N Missense 2/63 - 6
11-108098400-CAT-GAG c.49_51delinsGAG p.H17E Missense 2/63 - 1
11-108098400-C-T c.49C>T p.H17Y Missense 2/63 - 1
11-108098401-A-G c.50A>G p.H17R Missense 2/63 - 1
11-108098401-CAT-C c.50_51del p.H17Rfs*2 Frameshift 2/63 - 1
11-108098402-T-A c.51T>A p.H17Q Missense 2/63 - 1
11-108098402-T-C c.51T>C p.H17= Synonymous 2/63 - 1
11-108098402-T-G c.51T>G p.H17Q 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 - 5
11-108098403-G-C c.52G>C p.D18H Missense 2/63 - 3
11-108098403-G-T c.52G>T p.D18Y Missense 2/63 - 2
11-108098404-A-G c.53A>G p.D18G Missense 2/63 - 1
11-108098405-T-A c.54T>A p.D18E Missense 2/63 - 2
11-108098406-A-G c.55A>G p.R19G Missense 2/63 - 3
11-108098406-AG-GC c.55_56delinsGC p.R19A Missense 2/63 - 1
11-108098406-A-T c.55A>T p.R19* Nonsense 2/63 - 2
11-108098407-G-A c.56G>A p.R19K Missense 2/63 - 3
11-108098407-G-C c.56G>C p.R19T Missense 2/63 - 2
11-108098408-A-T c.57A>T p.R19S Missense 2/63 - 1
11-108098409-G-A c.58G>A p.A20T Missense 2/63 - 7
11-108098409-G-C c.58G>C p.A20P Missense 2/63 - 3
11-108098409-GC-AA c.58_59delinsAA p.A20N Missense 2/63 - 2
11-108098409-GC-AT c.58_59delinsAT p.A20I Missense 2/63 - 1
11-108098409-GC-CA c.58_59delinsCA p.A20H Missense 2/63 - 1
11-108098409-GC-CG c.58_59delinsCG p.A20R Missense 2/63 - 1
11-108098409-GCT-CAA c.58_60delinsCAA p.A20Q Missense 2/63 - 2
11-108098409-GC-TG c.58_59delinsTG p.A20C Missense 2/63 - 1
11-108098409-GC-TT c.58_59delinsTT p.A20F Missense 2/63 - 3
11-108098409-GCT-TAA c.58_60delinsTAA p.A20* Nonsense 2/63 - 2
11-108098409-GCT-TGG c.58_60delinsTGG p.A20W Missense 2/63 - 7
11-108098410-C-A c.59C>A p.A20D Missense 2/63 - 7
11-108098410-C-T c.59C>T p.A20V Missense 2/63 - 3
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-C c.61A>C p.T21P Missense 2/63 - 1
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-G c.61A>G p.T21A Missense 2/63 - 5
11-108098413-C-A c.62C>A p.T21K Missense 2/63 - 2
11-108098413-CA-AC c.62_63delinsAC p.T21N Missense 2/63 - 1
11-108098413-CA-TG c.62_63inv p.T21M Missense 2/63 - 1
11-108098413-C-T c.62C>T p.T21I Missense 2/63 - 2
11-108098414-A-G c.63A>G p.T21= Synonymous 2/63 - 1
11-108098415-G-A c.64G>A p.E22K Missense 2/63 - 5
11-108098415-GAA-AAC c.64_66delinsAAC p.E22N Missense 2/63 - 1
11-108098415-GAA-TGT c.64_66delinsTGT p.E22C Missense 2/63 - 2
11-108098415-GAA-TTT c.64_66delinsTTT p.E22F Missense 2/63 - 1
11-108098415-GA-TC c.64_65inv p.E22S Missense 2/63 - 1
11-108098415-G-C c.64G>C p.E22Q Missense 2/63 - 3
11-108098415-G-T c.64G>T p.E22* Nonsense 2/63 - 3
11-108098416-A-G c.65A>G p.E22G Missense 2/63 - 11
11-108098417-A-C c.66A>C p.E22D Missense 2/63 - 1
11-108098417-A-G c.66A>G p.E22= Synonymous 2/63 - 2
11-108098417-A-T c.66A>T p.E22D Missense 2/63 - 1
11-108098418-AC-A c.67del p.R23Efs*11 Frameshift 2/63 - 1
11-108098418-C-G c.67C>G p.R23G Missense 2/63 - 3
11-108098418-CGA-TGT c.67_69delinsTGT p.R23C Missense 2/63 - 1
11-108098418-CG-GC c.67_68delinsGC p.R23A Missense 2/63 - 1
11-108098418-C-T c.67C>T p.R23* Nonsense 2/63 - 34
11-108098419-G-A c.68G>A p.R23Q Missense 2/63 - 28
11-108098419-GA-AT c.68_69delinsAT p.R23H Missense 2/63 - 1
11-108098419-G-C c.68G>C p.R23P Missense 2/63 - 2
11-108098421-A-G c.70A>G p.K24E Missense 2/63 - 2
11-108098419-GA-G c.71del p.K24Rfs*10 Frameshift 2/63 - 1
11-108098422-A-C c.71A>C p.K24T Missense 2/63 - 1
11-108098422-A-T c.71A>T p.K24M Missense 2/63 - 1
11-108098423-G-A c.72G>A p.K24= Synonymous 2/63 - 1
11-108098423-G-C c.72G>C p.K24N Missense 2/63 - 1
11-108098423-G-T c.72G>T p.K24N Missense 2/63 - 1
11-108098424-G-A c.72+1G>A - IntronicSNV - 2/62 4
11-108098424-G-T c.72+1G>T - IntronicSNV - 2/62 1
11-108098425-GT-G c.72+2del - IntronicDeletion - 2/62 1
11-108098425-T-C c.72+2T>C - IntronicSNV - 2/62 3
11-108098445-A-T c.72+22A>T - IntronicSNV - 2/62 1
11-108098454-TGAAATAAGTGTGATTAGTAACCCATTATTATTTCCTTTTTATTTTCAGAAAGAAGTTGA-T c.72+37_88del - Unclassified 3/63 2/62 1
11-108098459-T-TAA c.72+37_72+38dup - IntronicInsertion - 2/62 1
11-108098460-TAA-T c.72+37_72+38del - IntronicDeletion - 2/62 9
11-108098484-A-G c.73-19A>G - IntronicSNV - 2/62 1
11-108098500-C-G c.73-3C>G - IntronicSNV - 2/62 1
11-108098500-C-T c.73-3C>T - IntronicSNV - 2/62 1
11-108098503-AA-GC c.73_74delinsGC p.K25A Missense 3/63 - 2
11-108098503-A-G c.73A>G p.K25E Missense 3/63 - 2
11-108098500-CAGAA-C c.75_78del p.E26Lfs*7 Frameshift 3/63 - 2
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-CAT c.76_78delinsCAT p.E26H Missense 3/63 - 1
11-108098506-GAA-TGT c.76_78delinsTGT p.E26C Missense 3/63 - 1
11-108098506-G-C c.76G>C p.E26Q Missense 3/63 - 4
11-108098506-G-T c.76G>T p.E26* Nonsense 3/63 - 1
11-108098507-A-G c.77A>G p.E26G Missense 3/63 - 2
11-108098507-A-GG c.77delinsGG p.E26Gfs*3 Frameshift 3/63 - 1
11-108098508-A-G c.78A>G p.E26= Synonymous 3/63 - 2
11-108098508-A-T c.78A>T p.E26D Missense 3/63 - 5
11-108098509-G-A c.79G>A p.V27I Missense 3/63 - 5
11-108098509-G-C c.79G>C p.V27L Missense 3/63 - 1
11-108098509-G-T c.79G>T p.V27F Missense 3/63 - 1
11-108098509-GTT-ATG c.79_81delinsATG p.V27M Missense 3/63 - 1
11-108098511-T-C c.81T>C p.V27= Synonymous 3/63 - 1
11-108098511-T-G c.81T>G p.V27= Synonymous 3/63 - 1
11-108098511-T-TA c.81_82insA p.E28Rfs*4 Frameshift 3/63 - 1
11-108098512-G-C c.82G>C p.E28Q Missense 3/63 - 3
11-108098512-TG-T c.82del p.E28Rfs*6 Frameshift 3/63 - 1
11-108098513-A-G c.83A>G p.E28G Missense 3/63 - 1
11-108098514-G-A c.84G>A p.E28= Synonymous 3/63 - 2
11-108098514-G-C c.84G>C p.E28D Missense 3/63 - 1
11-108098514-G-T c.84G>T p.E28D Missense 3/63 - 2
11-108098515-A-G c.85A>G p.K29E Missense 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-C c.86A>C p.K29T Missense 3/63 - 1
11-108098516-A-G c.86A>G p.K29R Missense 3/63 - 4
11-108098514-GA-G c.87del p.K29Nfs*5 Frameshift 3/63 - 1
11-108098514-G-GA c.87dup p.F30Ifs*2 Frameshift 3/63 - 1
11-108098518-ATTT-A c.88_90del p.F30del InFrameDeletion 3/63 - 1
11-108098518-T-C c.88T>C p.F30L Missense 3/63 - 2
11-108098518-T-G c.88T>G p.F30V Missense 3/63 - 2
11-108098517-ATT-A c.89_90del p.F30* Frameshift 3/63 - 1
11-108098519-T-A c.89T>A p.F30Y Missense 3/63 - 2
11-108098519-T-G c.89T>G p.F30C Missense 3/63 - 6
11-108098519-TT-AA c.89_90inv p.F30* Nonsense 3/63 - 1
11-108098517-A-AT c.90dup p.K31* Nonsense 3/63 - 1
11-108098517-AT-A c.90del p.F30Lfs*4 Frameshift 3/63 - 1
11-108098520-T-C c.90T>C p.F30= Synonymous 3/63 - 1
11-108098521-AA-GC c.91_92delinsGC p.K31A Missense 3/63 - 2
11-108098521-AA-GG c.91_92delinsGG p.K31G Missense 3/63 - 1
11-108098521-A-G c.91A>G p.K31E Missense 3/63 - 1
11-108098521-A-T c.91A>T p.K31* Nonsense 3/63 - 4
11-108098522-A-G c.92A>G p.K31R Missense 3/63 - 5
11-108098522-AG-TC c.92_93delinsTC p.K31I Missense 3/63 - 1
11-108098523-G-A c.93G>A p.K31= Synonymous 3/63 - 1
11-108098523-G-C c.93G>C p.K31N Missense 3/63 - 3
11-108098523-G-T c.93G>T p.K31N Missense 3/63 - 1
11-108098524-C-G c.94C>G p.R32G Missense 3/63 - 1
11-108098524-CGC-TGA c.94_96delinsTGA p.R32* Nonsense 3/63 - 1
11-108098524-CGC-TGG c.94_96delinsTGG p.R32W Missense 3/63 - 1
11-108098524-C-T c.94C>T p.R32C Missense 3/63 - 18
11-108098525-G-A c.95G>A p.R32H Missense 3/63 - 6
11-108098525-GC-AA c.95_96delinsAA p.R32Q Missense 3/63 - 2
11-108098525-G-T c.95G>T p.R32L Missense 3/63 - 3
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
11-108098527-C-T c.97C>T p.L33= Synonymous 3/63 - 1
11-108098528-T-A c.98T>A p.L33Q Missense 3/63 - 1
11-108098528-T-C c.98T>C p.L33P Missense 3/63 - 7
11-108098529-G-C c.99G>C p.L33= Synonymous 3/63 - 1
11-108098530-A-G c.100A>G p.I34V Missense 3/63 - 1
11-108098530-A-T c.100A>T p.I34F Missense 3/63 - 1
11-108098531-T-A c.101T>A p.I34N Missense 3/63 - 1
11-108098532-T-A c.102T>A p.I34= Synonymous 3/63 - 1
11-108098532-T-C c.102T>C p.I34= Synonymous 3/63 - 1
11-108098533-C-A c.103C>A p.R35= Synonymous 3/63 - 5
11-108098533-C-G c.103C>G p.R35G Missense 3/63 - 6
11-108098533-CGA-TGG c.103_105delinsTGG p.R35W Missense 3/63 - 1
11-108098533-CGA-TGT c.103_105delinsTGT p.R35C Missense 3/63 - 1
11-108098533-CG-GC c.103_104delinsGC p.R35A Missense 3/63 - 1
11-108098533-C-T c.103C>T p.R35* Nonsense 3/63 - 54
11-108098534-G-A c.104G>A p.R35Q Missense 3/63 - 4
11-108098534-GA-AT c.104_105delinsAT p.R35H Missense 3/63 - 1
11-108098534-G-C c.104G>C p.R35P Missense 3/63 - 1
11-108098534-G-T c.104G>T p.R35L Missense 3/63 - 1
11-108098535-A-AAAATT c.105_106insAAATT p.D36Kfs*10 Frameshift 3/63 - 1
11-108098535-A-G c.105A>G p.R35= Synonymous 3/63 - 2
11-108098536-G-A c.106G>A p.D36N Missense 3/63 - 3
11-108098536-GA-AC c.106_107delinsAC p.D36T Missense 3/63 - 1
11-108098536-GA-AG c.106_107delinsAG p.D36S Missense 3/63 - 2
11-108098536-GA-TT c.106_107delinsTT p.D36F Missense 3/63 - 1
11-108098537-A-G c.107A>G p.D36G Missense 3/63 - 4
11-108098538-AT-A c.108del p.P37Lfs*7 Frameshift 3/63 - 1
11-108098539-C-A c.109C>A p.P37T Missense 3/63 - 1
11-108098539-C-G c.109C>G p.P37A Missense 3/63 - 1
11-108098539-C-T c.109C>T p.P37S Missense 3/63 - 5
11-108098540-C-A c.110C>A p.P37H Missense 3/63 - 1
11-108098540-C-G c.110C>G p.P37R Missense 3/63 - 2
11-108098540-C-T c.110C>T p.P37L Missense 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 - 3
11-108098541-T-G c.111T>G p.P37= Synonymous 3/63 - 1
11-108098542-G-A c.112G>A p.E38K Missense 3/63 - 3
11-108098542-G-C c.112G>C p.E38Q Missense 3/63 - 1
11-108098542-G-T c.112G>T p.E38* Nonsense 3/63 - 1
11-108098543-A-C c.113A>C p.E38A Missense 3/63 - 1
11-108098544-A-C c.114A>C p.E38D Missense 3/63 - 1
11-108098544-A-G c.114A>G p.E38= Synonymous 3/63 - 1
11-108098544-A-T c.114A>T p.E38D Missense 3/63 - 2
11-108098545-A-G c.115A>G p.T39A Missense 3/63 - 7
11-108098546-C-G c.116C>G p.T39R Missense 3/63 - 1
11-108098546-C-T c.116C>T p.T39I Missense 3/63 - 3
11-108098547-A-G c.117A>G p.T39= Synonymous 3/63 - 1
11-108098548-A-C c.118A>C p.I40L Missense 3/63 - 2
11-108098548-A-G c.118A>G p.I40V Missense 3/63 - 3
11-108098548-ATT-TAA c.118_120delinsTAA p.I40* Nonsense 3/63 - 1
11-108098546-CAATT-C c.119_122del p.I40Nfs*3 Frameshift 3/63 - 2
11-108098549-T-C c.119T>C p.I40T Missense 3/63 - 3
11-108098551-AA-GC c.121_122delinsGC p.K41A Missense 3/63 - 3
11-108098551-A-C c.121A>C p.K41Q Missense 3/63 - 1
11-108098551-A-G c.121A>G p.K41E Missense 3/63 - 4
11-108098551-A-T c.121A>T p.K41* Nonsense 3/63 - 1
11-108098552-A-G c.122A>G p.K41R Missense 3/63 - 1
11-108098550-TA-T c.123del p.K41Nfs*3 Frameshift 3/63 - 1
11-108098550-T-TA c.123dup p.H42Tfs*21 Frameshift 3/63 - 1
11-108098551-AAAC-A c.123_125del p.K41_H42delinsN MultiAAMissense 3/63 - 1
11-108098553-A-C c.123A>C p.K41N Missense 3/63 - 1
11-108098553-A-T c.123A>T p.K41N Missense 3/63 - 1
11-108098554-C-A c.124C>A p.H42N Missense 3/63 - 1
11-108098554-CA-GC c.124_125delinsGC p.H42A Missense 3/63 - 1
11-108098554-CAT-TAA c.124_126delinsTAA p.H42* Nonsense 3/63 - 1
11-108098554-C-T c.124C>T p.H42Y Missense 3/63 - 4
11-108098555-A-C c.125A>C p.H42P Missense 3/63 - 1
11-108098555-A-G c.125A>G p.H42R Missense 3/63 - 33
11-108098555-CATCTAGATCG-C c.125_134del p.H42Rfs*11 Frameshift 3/63 - 1
11-108098556-T-G c.126T>G p.H42Q Missense 3/63 - 1
11-108098557-C-G c.127C>G p.L43V Missense 3/63 - 2
11-108098557-C-T c.127C>T p.L43= Synonymous 3/63 - 2
11-108098558-T-C c.128T>C p.L43P Missense 3/63 - 2
11-108098559-A-T c.129A>T p.L43= Synonymous 3/63 - 2
11-108098560-G-A c.130G>A p.D44N Missense 3/63 - 6
11-108098560-G-T c.130G>T p.D44Y Missense 3/63 - 1
11-108098560-G-GA c.131dup p.D44Efs*19 Frameshift 3/63 - 1
11-108098561-A-G c.131A>G p.D44G Missense 3/63 - 9
11-108098561-A-T c.131A>T p.D44V Missense 3/63 - 1
11-108098562-T-A c.132T>A p.D44E Missense 3/63 - 1
11-108098562-T-G c.132T>G p.D44E Missense 3/63 - 1
11-108098563-C-A c.133C>A p.R45= Synonymous 3/63 - 2
11-108098563-CG-AA c.133_134delinsAA p.R45K Missense 3/63 - 2
11-108098563-CG-AC c.133_134delinsAC p.R45T Missense 3/63 - 1
11-108098563-CGG-AGC c.133_135delinsAGC p.R45S Missense 3/63 - 1
11-108098563-CGG-TGT c.133_135delinsTGT p.R45C Missense 3/63 - 1
11-108098563-CG-TA c.133_134delinsTA p.R45* Nonsense 3/63 - 1
11-108098563-C-T c.133C>T p.R45W Missense 3/63 - 18
11-108098564-G-A c.134G>A p.R45Q Missense 3/63 - 7
11-108098564-G-C c.134G>C p.R45P Missense 3/63 - 1
11-108098564-G-T c.134G>T p.R45L Missense 3/63 - 1
11-108098563-CG-C c.135del p.H46Ifs*10 Frameshift 3/63 - 1
11-108098565-G-A c.135G>A p.R45= Synonymous 3/63 - 1
11-108098565-G-C c.135G>C p.R45= Synonymous 3/63 - 1
11-108098566-CA-GT c.136_137delinsGT p.H46V Missense 3/63 - 1
11-108098567-A-C c.137A>C p.H46P Missense 3/63 - 3
11-108098567-A-G c.137A>G p.H46R Missense 3/63 - 3
11-108098565-GCATT-G c.138_141del p.H46Qfs*9 Frameshift 3/63 - 8
11-108098568-T-C c.138T>C p.H46= Synonymous 3/63 - 2
11-108098569-T-C c.139T>C p.S47P Missense 3/63 - 1
11-108098569-TC-GA c.139_140inv p.S47E Missense 3/63 - 1
11-108098569-TC-GG c.139_140delinsGG p.S47G Missense 3/63 - 1
11-108098569-T-G c.139T>G p.S47A Missense 3/63 - 6
11-108098570-C-A c.140C>A p.S47* Nonsense 3/63 - 3
11-108098570-CA-GT c.140_141delinsGT p.S47C Missense 3/63 - 1
11-108098570-C-G c.140C>G p.S47* Nonsense 3/63 - 6
11-108098571-A-G c.141A>G p.S47= Synonymous 3/63 - 1
11-108098572-G-A c.142G>A p.D48N Missense 3/63 - 2
11-108098572-GA-AC c.142_143delinsAC p.D48T Missense 3/63 - 1
11-108098572-G-C c.142G>C p.D48H Missense 3/63 - 2
11-108098572-G-T c.142G>T p.D48Y Missense 3/63 - 1
11-108098573-A-C c.143A>C p.D48A Missense 3/63 - 1
11-108098573-A-G c.143A>G p.D48G Missense 3/63 - 1
11-108098574-T-A c.144T>A p.D48E Missense 3/63 - 1
11-108098574-T-G c.144T>G p.D48E Missense 3/63 - 1
11-108098575-T-A c.145T>A p.S49T Missense 3/63 - 1
11-108098575-TC-CG c.145_146delinsCG p.S49R Missense 3/63 - 1
11-108098576-C-G c.146C>G p.S49C Missense 3/63 - 88
11-108098576-C-T c.146C>T p.S49F Missense 3/63 - 19
11-108098578-A-C c.148A>C p.K50Q Missense 3/63 - 1
11-108098578-A-G c.148A>G p.K50E Missense 3/63 - 2
11-108098578-A-T c.148A>T p.K50* Nonsense 3/63 - 2
11-108098579-A-G c.149A>G p.K50R Missense 3/63 - 3
11-108098577-CA-C c.150del p.K50Nfs*6 Frameshift 3/63 - 2
11-108098581-CA-GC c.151_152delinsGC p.Q51A Missense 3/63 - 1
11-108098581-C-T c.151C>T p.Q51* Nonsense 3/63 - 3
11-108098582-A-T c.152A>T p.Q51L Missense 3/63 - 1
11-108098581-C-CA c.153dup p.G52Rfs*11 Frameshift 3/63 - 1
11-108098583-A-C c.153A>C p.Q51H Missense 3/63 - 3
11-108098583-A-T c.153A>T p.Q51H Missense 3/63 - 3
11-108098584-G-A c.154G>A p.G52R Missense 3/63 - 4
11-108098584-G-C c.154G>C p.G52R Missense 3/63 - 3
11-108098584-GGA-AGC c.154_156delinsAGC p.G52S Missense 3/63 - 1
11-108098584-G-T c.154G>T p.G52* Nonsense 3/63 - 5
11-108098585-G-A c.155G>A p.G52E Missense 3/63 - 1
11-108098585-G-C c.155G>C p.G52A Missense 3/63 - 1
11-108098585-G-T c.155G>T p.G52V Missense 3/63 - 1
11-108098587-A-C c.157A>C p.K53Q Missense 3/63 - 2
11-108098587-A-T c.157A>T p.K53* Nonsense 3/63 - 2
11-108098588-A-G c.158A>G p.K53R Missense 3/63 - 2
11-108098590-T-C c.160T>C p.Y54H Missense 3/63 - 1
11-108098590-T-G c.160T>G p.Y54D Missense 3/63 - 1
11-108098591-A-G c.161A>G p.Y54C 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 - 11
11-108098592-T-G c.162T>G p.Y54* Nonsense 3/63 - 1
11-108098594-T-G c.164T>G p.L55W Missense 3/63 - 1
11-108098595-G-C c.165G>C p.L55F Missense 3/63 - 4
11-108098597-A-T c.167A>T p.N56I Missense 3/63 - 1
11-108098598-T-G c.168T>G p.N56K Missense 3/63 - 2
11-108098599-T-A c.169T>A p.W57R Missense 3/63 - 1
11-108098599-T-C c.169T>C p.W57R Missense 3/63 - 3
11-108098600-G-A c.170G>A p.W57* Nonsense 3/63 - 32
11-108098600-G-T c.170G>T p.W57L Missense 3/63 - 2
11-108098601-G-A c.171G>A p.W57* Nonsense 3/63 - 11
11-108098601-G-T c.171G>T p.W57C Missense 3/63 - 1
11-108098599-TG-T c.172del p.D58Mfs*18 Frameshift 3/63 - 3
11-108098599-T-TG c.172dup p.D58Gfs*5 Frameshift 3/63 - 1
11-108098602-G-A c.172G>A p.D58N Missense 3/63 - 4
11-108098602-GA-AC c.172_173delinsAC p.D58T Missense 3/63 - 1
11-108098602-G-C c.172G>C p.D58H Missense 3/63 - 1
11-108098602-G-T c.172G>T p.D58Y Missense 3/63 - 2
11-108098603-A-C c.173A>C p.D58A Missense 3/63 - 1
11-108098603-A-G c.173A>G p.D58G Missense 3/63 - 2
11-108098603-A-T c.173A>T p.D58V Missense 3/63 - 1
11-108098604-T-C c.174T>C p.D58= Synonymous 3/63 - 1
11-108098605-G-A c.175G>A p.A59T Missense 3/63 - 5
11-108098605-GC-CG c.175_176delinsCG p.A59R Missense 3/63 - 1
11-108098605-GC-TA c.175_176delinsTA p.A59Y Missense 3/63 - 2
11-108098605-GCT-TAA c.175_177delinsTAA p.A59* Nonsense 3/63 - 2
11-108098605-G-T c.175G>T p.A59S Missense 3/63 - 11
11-108098606-C-A c.176C>A p.A59D Missense 3/63 - 1
11-108098606-C-G c.176C>G p.A59G Missense 3/63 - 1
11-108098606-C-T c.176C>T p.A59V Missense 3/63 - 9
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
11-108098608-G-A c.178G>A p.V60I Missense 3/63 - 1
11-108098608-G-C c.178G>C p.V60L Missense 3/63 - 2
11-108098609-T-C c.179T>C p.V60A Missense 3/63 - 2
11-108098609-T-G c.179T>G p.V60G Missense 3/63 - 1
11-108098611-T-C c.181T>C p.F61L Missense 3/63 - 3
11-108098611-T-G c.181T>G p.F61V Missense 3/63 - 3
11-108098613-T-A c.183T>A p.F61L Missense 3/63 - 2
11-108098613-T-G c.183T>G p.F61L Missense 3/63 - 1
11-108098612-T-C c.182T>C p.F61S Missense 3/63 - 2
11-108098612-T-G c.182T>G p.F61C Missense 3/63 - 1
11-108098608-GT-G c.183del p.F61Lfs*15 Frameshift 3/63 - 4
11-108098613-T-C c.183T>C p.F61= Synonymous 3/63 - 2
11-108098614-A-G c.184A>G p.R62G Missense 3/63 - 4
11-108098614-AG-CA c.184_185delinsCA p.R62Q Missense 3/63 - 1
11-108098614-AG-CC c.184_185delinsCC p.R62P Missense 3/63 - 1
11-108098614-AG-CT c.184_185inv p.R62L Missense 3/63 - 2
11-108098614-AG-GC c.184_185delinsGC p.R62A Missense 3/63 - 1
11-108098614-A-T c.184A>T p.R62* Nonsense 3/63 - 4
11-108098615-G-A c.185G>A p.R62K Missense 3/63 - 1
11-108098615-G-T c.185G>T p.R62I Missense 3/63 - 1
11-108098616-G-A c.185+1G>A - IntronicSNV - 3/62 4
11-108098623-A-G c.185+8A>G - IntronicSNV - 3/62 1
11-108098640-T-A c.185+25T>A - IntronicSNV - 3/62 1
11-108098660-A-G c.185+45A>G - IntronicSNV - 3/62 1
11-108098861-T-A c.185+246T>A - IntronicSNV - 3/62 1
11-108099871-C-T c.186-34C>T - IntronicSNV - 3/62 1
11-108099872-G-A c.186-33G>A - IntronicSNV - 3/62 1
11-108099872-G-T c.186-33G>T - IntronicSNV - 3/62 1
11-108099886-G-A c.186-19G>A - IntronicSNV - 3/62 1
11-108099888-A-G c.186-17A>G - IntronicSNV - 3/62 1
11-108099898-C-T c.186-7C>T - IntronicSNV - 3/62 2
11-108098614-A-C c.184A>C p.R62= Synonymous 3/63 - 4
11-108099904-G-GA c.186dup p.F63Ifs*37 SpliceAcceptorInsertion 4/63 - 1
11-108099905-A-AC c.186_187insC p.F63Lfs*37 SpliceAcceptorInsertion 4/63 - 1
11-108099905-A-AG c.186_187insG p.F63Vfs*37 SpliceAcceptorInsertion 4/63 - 1
11-108099905-A-C c.186A>C p.R62S Missense 4/63 - 1
11-108099905-A-G c.186A>G p.R62= Synonymous 4/63 - 3
11-108099905-A-T c.186A>T p.R62S Missense 4/63 - 1
11-108099906-T-C c.187T>C p.F63L Missense 4/63 - 1
11-108099906-TT-AC c.187_188delinsAC p.F63T Missense 4/63 - 1
11-108099906-TT-GA c.187_188delinsGA p.F63D Missense 4/63 - 1
11-108099906-TTT-GAG c.187_189delinsGAG p.F63E Missense 4/63 - 2
11-108099908-T-A c.189T>A p.F63L Missense 4/63 - 1
11-108099908-T-G c.189T>G p.F63L Missense 4/63 - 1
11-108099907-T-A c.188T>A p.F63Y Missense 4/63 - 1
11-108099907-T-C c.188T>C p.F63S Missense 4/63 - 1
11-108099907-T-G c.188T>G p.F63C Missense 4/63 - 3
11-108099908-T-C c.189T>C p.F63= Synonymous 4/63 - 1
11-108099909-TT-CA c.190_191delinsCA p.L64Q Missense 4/63 - 1
11-108099909-TT-GC c.190_191delinsGC p.L64A Missense 4/63 - 1
11-108099905-A-AT c.191dup p.L64Ffs*36 Frameshift 4/63 - 1
11-108099905-AT-A c.191del p.L64Yfs*12 Frameshift 4/63 - 2
11-108099910-T-C c.191T>C p.L64S Missense 4/63 - 1
11-108099910-T-G c.191T>G p.L64* Nonsense 4/63 - 1
11-108099910-T-TA c.192dup p.Q65Tfs*35 Frameshift 4/63 - 3
11-108099911-A-C c.192A>C p.L64F Missense 4/63 - 1
11-108099911-TA-T c.192del p.L64Ffs*12 Frameshift 4/63 - 4
11-108099912-AC-A c.193del p.Q65Rfs*11 Frameshift 4/63 - 1
11-108099912-CA-GC c.193_194delinsGC p.Q65A Missense 4/63 - 2
11-108099912-C-G c.193C>G p.Q65E Missense 4/63 - 3
11-108099912-C-T c.193C>T p.Q65* Nonsense 4/63 - 6
11-108099913-A-C c.194A>C p.Q65P Missense 4/63 - 3
11-108099913-A-G c.194A>G p.Q65R Missense 4/63 - 15
11-108099914-G-C c.195G>C p.Q65H Missense 4/63 - 3
11-108099914-G-T c.195G>T p.Q65H Missense 4/63 - 2
11-108099915-AA-GC c.196_197delinsGC p.K66A Missense 4/63 - 1
11-108099915-A-C c.196A>C p.K66Q Missense 4/63 - 2
11-108099915-A-G c.196A>G p.K66E Missense 4/63 - 3
11-108099915-A-T c.196A>T p.K66* Nonsense 4/63 - 1
11-108099916-AA-TG c.197_198delinsTG p.K66M Missense 4/63 - 2
11-108099916-A-G c.197A>G p.K66R Missense 4/63 - 1
11-108099917-A-C c.198A>C p.K66N Missense 4/63 - 1
11-108099917-A-G c.198A>G p.K66= Synonymous 4/63 - 1
11-108099917-A-T c.198A>T p.K66N Missense 4/63 - 1
11-108099918-T-C c.199T>C p.Y67H Missense 4/63 - 2
11-108099919-A-G c.200A>G p.Y67C Missense 4/63 - 7
11-108099919-A-T c.200A>T p.Y67F Missense 4/63 - 1
11-108099919-AT-TG c.200_201delinsTG p.Y67L Missense 4/63 - 1
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 - 2
11-108099921-A-G c.202A>G p.I68V Missense 4/63 - 8
11-108099921-AT-A c.204del p.Q69Rfs*7 Frameshift 4/63 - 1
11-108099924-C-A c.205C>A p.Q69K Missense 4/63 - 1
11-108099924-C-T c.205C>T p.Q69* Nonsense 4/63 - 4
11-108099925-A-G c.206A>G p.Q69R Missense 4/63 - 1
11-108099925-A-T c.206A>T p.Q69L Missense 4/63 - 1
11-108099926-G-C c.207G>C p.Q69H Missense 4/63 - 4
11-108099926-G-T c.207G>T p.Q69H Missense 4/63 - 3
11-108099927-A-G c.208A>G p.K70E Missense 4/63 - 1
11-108099927-A-T c.208A>T p.K70* Nonsense 4/63 - 1
11-108099927-GAAA-G c.208_210del p.K70del InFrameDeletion 4/63 - 1
11-108099928-A-G c.209A>G p.K70R Missense 4/63 - 3
11-108099929-A-C c.210A>C p.K70N Missense 4/63 - 1
11-108099929-A-G c.210A>G p.K70= Synonymous 4/63 - 1
11-108099929-A-T c.210A>T p.K70N Missense 4/63 - 2
11-108099927-AAAG-A c.211_213del p.E71del InFrameDeletion 4/63 - 1
11-108099930-G-A c.211G>A p.E71K Missense 4/63 - 4
11-108099930-G-C c.211G>C p.E71Q Missense 4/63 - 1
11-108099930-G-T c.211G>T p.E71* Nonsense 4/63 - 4
11-108099931-A-G c.212A>G p.E71G Missense 4/63 - 1
11-108099930-GA-G c.214del p.T72Qfs*4 Frameshift 4/63 - 1
11-108099934-C-A c.215C>A p.T72K Missense 4/63 - 2
11-108099934-C-G c.215C>G p.T72R Missense 4/63 - 4
11-108099934-C-T c.215C>T p.T72I Missense 4/63 - 3
11-108099933-ACAGAATGTCTGAGAATAGCAAAAC-A c.217_240del p.E73_P80del InFrameDeletion 4/63 - 1
11-108099934-CAG-C c.217_218del p.E73Mfs*26 Frameshift 4/63 - 10
11-108099936-G-A c.217G>A p.E73K Missense 4/63 - 5
11-108099937-A-C c.218A>C p.E73A Missense 4/63 - 1
11-108099937-A-G c.218A>G p.E73G Missense 4/63 - 2
11-108099938-A-G c.219A>G p.E73= Synonymous 4/63 - 1
11-108099939-T-A c.220T>A p.C74S Missense 4/63 - 1
11-108099939-T-C c.220T>C p.C74R Missense 4/63 - 1
11-108099939-T-G c.220T>G p.C74G Missense 4/63 - 3
11-108099939-TG-AC c.220_221delinsAC p.C74T Missense 4/63 - 1
11-108099939-TG-GC c.220_221delinsGC p.C74A Missense 4/63 - 2
11-108099940-G-A c.221G>A p.C74Y Missense 4/63 - 1
11-108099940-G-T c.221G>T p.C74F Missense 4/63 - 1
11-108099942-C-A c.223C>A p.L75M Missense 4/63 - 1
11-108099942-C-G c.223C>G p.L75V Missense 4/63 - 1
11-108099942-C-CT c.224dup p.R76Efs*24 Frameshift 4/63 - 1
11-108099943-T-C c.224T>C p.L75P Missense 4/63 - 1
11-108099943-T-G c.224T>G p.L75R Missense 4/63 - 2
11-108099944-G-A c.225G>A p.L75= Synonymous 4/63 - 1
11-108099945-A-C c.226A>C p.R76= Synonymous 4/63 - 1
11-108099945-A-G c.226A>G p.R76G Missense 4/63 - 2
11-108099945-AGA-CAT c.226_228delinsCAT p.R76H Missense 4/63 - 1
11-108099945-AGA-TGG c.226_228delinsTGG p.R76W Missense 4/63 - 1
11-108099945-AGA-TGT c.226_228delinsTGT p.R76C Missense 4/63 - 2
11-108099945-AG-CA c.226_227delinsCA p.R76Q Missense 4/63 - 2
11-108099945-AG-CT c.226_227inv p.R76L Missense 4/63 - 1
11-108099945-AG-GC c.226_227delinsGC p.R76A Missense 4/63 - 2
11-108099945-A-T c.226A>T p.R76* Nonsense 4/63 - 1
11-108099946-G-A c.227G>A p.R76K Missense 4/63 - 4
11-108099946-G-C c.227G>C p.R76T Missense 4/63 - 1
11-108099946-G-T c.227G>T p.R76I Missense 4/63 - 3
11-108099947-A-C c.228A>C p.R76S Missense 4/63 - 1
11-108099946-G-GA c.229dup p.I77Nfs*23 Frameshift 4/63 - 2
11-108099948-A-G c.229A>G p.I77V Missense 4/63 - 1
11-108099948-AT-GC c.229_230delinsGC p.I77A Missense 4/63 - 1
11-108099949-T-A c.230T>A p.I77K Missense 4/63 - 2
11-108099950-A-T c.231A>T p.I77= Synonymous 4/63 - 1
11-108099951-G-A c.232G>A p.A78T Missense 4/63 - 8
11-108099951-GC-AA c.232_233delinsAA p.A78K Missense 4/63 - 1
11-108099952-CA-AC c.233_234delinsAC p.A78D Missense 4/63 - 2
11-108099952-C-G c.233C>G p.A78G Missense 4/63 - 2
11-108099952-C-T c.233C>T p.A78V Missense 4/63 - 1
11-108099953-A-C c.234A>C p.A78= Synonymous 4/63 - 1
11-108099953-A-G c.234A>G p.A78= Synonymous 4/63 - 1
11-108099953-A-T c.234A>T p.A78= Synonymous 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-AA-TG c.236_237delinsTG p.K79M Missense 4/63 - 2
11-108099955-A-G c.236A>G p.K79R Missense 4/63 - 4
11-108099952-CA-C c.237del p.K79Nfs*37 Frameshift 4/63 - 5
11-108099956-A-C c.237A>C p.K79N Missense 4/63 - 1
11-108099956-A-T c.237A>T p.K79N Missense 4/63 - 1
11-108099957-C-T c.238C>T p.P80S Missense 4/63 - 8
11-108099956-AC-A c.239del p.P80Qfs*36 Frameshift 4/63 - 1
11-108099958-C-A c.239C>A p.P80Q Missense 4/63 - 1
11-108099958-CA-AT c.239_240delinsAT p.P80H Missense 4/63 - 2
11-108099958-C-T c.239C>T p.P80L Missense 4/63 - 6
11-108099960-A-G c.241A>G p.N81D Missense 4/63 - 5
11-108099957-CCAAATGTATCAGCCT-C c.242_256del p.N81_S85del InFrameDeletion 4/63 - 1
11-108099958-C-CA c.242dup p.N81Kfs*19 Frameshift 4/63 - 2
11-108099961-A-G c.242A>G p.N81S Missense 4/63 - 1
11-108099962-T-A c.243T>A p.N81K Missense 4/63 - 1
11-108099962-T-C c.243T>C p.N81= Synonymous 4/63 - 1
11-108099962-T-G c.243T>G p.N81K Missense 4/63 - 1
11-108099963-G-A c.244G>A p.V82I Missense 4/63 - 3
11-108099963-G-C c.244G>C p.V82L Missense 4/63 - 1
11-108099963-G-T c.244G>T p.V82L Missense 4/63 - 2
11-108099963-GTA-ATG c.244_246delinsATG p.V82M Missense 4/63 - 1
11-108099964-T-A c.245T>A p.V82E Missense 4/63 - 1
11-108099964-TA-AC c.245_246delinsAC p.V82D Missense 4/63 - 1
11-108099966-T-A c.247T>A p.S83T Missense 4/63 - 1
11-108099966-T-C c.247T>C p.S83P Missense 4/63 - 1
11-108099966-TCA-AAC c.247_249delinsAAC p.S83N Missense 4/63 - 2
11-108099966-TCA-ATG c.247_249delinsATG p.S83M Missense 4/63 - 1
11-108099966-TC-AG c.247_248delinsAG p.S83R Missense 4/63 - 3
11-108099966-TC-AT c.247_248delinsAT p.S83I Missense 4/63 - 10
11-108099966-TC-GA c.247_248inv p.S83E Missense 4/63 - 1
11-108099966-TC-GG c.247_248delinsGG p.S83G Missense 4/63 - 1
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 - 4
11-108099967-CA-AT c.248_249delinsAT p.S83Y Missense 4/63 - 6
11-108099967-CA-TT c.248_249delinsTT p.S83F Missense 4/63 - 5
11-108099967-C-G c.248C>G p.S83* Nonsense 4/63 - 1
11-108099967-C-T c.248C>T p.S83L Missense 4/63 - 23
11-108099968-A-C c.249A>C p.S83= Synonymous 4/63 - 2
11-108099968-A-G c.249A>G p.S83= Synonymous 4/63 - 2
11-108099968-A-T c.249A>T p.S83= Synonymous 4/63 - 2
11-108099967-CAGCCTCA-C c.250_256del p.A84Hfs*30 Frameshift 4/63 - 1
11-108099969-G-A c.250G>A p.A84T Missense 4/63 - 5
11-108099969-GC-CG c.250_251delinsCG p.A84R Missense 4/63 - 2
11-108099969-GCC-TAA c.250_252delinsTAA p.A84* Nonsense 4/63 - 1
11-108099969-GC-TA c.250_251delinsTA p.A84Y Missense 4/63 - 1
11-108099969-GC-TT c.250_251delinsTT p.A84F Missense 4/63 - 4
11-108099969-G-T c.250G>T p.A84S Missense 4/63 - 4
11-108099970-CC-AG c.251_252delinsAG p.A84E Missense 4/63 - 1
11-108099970-C-G c.251C>G p.A84G Missense 4/63 - 1
11-108099970-C-T c.251C>T p.A84V Missense 4/63 - 8
11-108099972-T-A c.253T>A p.S85T Missense 4/63 - 1
11-108099972-T-C c.253T>C p.S85P Missense 4/63 - 2
11-108099972-TCA-GAC c.253_255delinsGAC p.S85D Missense 4/63 - 1
11-108099972-T-G c.253T>G p.S85A Missense 4/63 - 4
11-108099973-C-A c.254C>A p.S85* Nonsense 4/63 - 3
11-108099973-CA-GT c.254_255delinsGT p.S85C Missense 4/63 - 1
11-108099973-C-G c.254C>G p.S85* Nonsense 4/63 - 5
11-108099973-C-T c.254C>T p.S85L Missense 4/63 - 2
11-108099975-AC-GA c.256_257delinsGA p.T86E Missense 4/63 - 1
11-108099975-A-G c.256A>G p.T86A Missense 4/63 - 3
11-108099976-C-A c.257C>A p.T86K Missense 4/63 - 1
11-108099976-CA-TG c.257_258inv p.T86M Missense 4/63 - 1
11-108099976-C-T c.257C>T p.T86I Missense 4/63 - 3
11-108099977-A-C c.258A>C p.T86= Synonymous 4/63 - 2
11-108099977-A-G c.258A>G p.T86= Synonymous 4/63 - 3
11-108099977-A-T c.258A>T p.T86= Synonymous 4/63 - 2
11-108099978-C-T c.259C>T p.Q87* Nonsense 4/63 - 4
11-108099979-A-C c.260A>C p.Q87P Missense 4/63 - 1
11-108099979-A-G c.260A>G p.Q87R Missense 4/63 - 1
11-108099980-A-G c.261A>G p.Q87= Synonymous 4/63 - 1
11-108099981-G-A c.262G>A p.A88T Missense 4/63 - 1
11-108099981-G-C c.262G>C p.A88P Missense 4/63 - 2
11-108099981-GC-AA c.262_263delinsAA p.A88N Missense 4/63 - 2
11-108099981-GCC-AAG c.262_264delinsAAG p.A88K Missense 4/63 - 1
11-108099981-GCC-CAA c.262_264delinsCAA p.A88Q Missense 4/63 - 1
11-108099981-GC-CG c.262_263delinsCG p.A88R Missense 4/63 - 1
11-108099981-GC-CT c.262_263delinsCT p.A88L Missense 4/63 - 1
11-108099981-G-T c.262G>T p.A88S Missense 4/63 - 1
11-108099982-C-A c.263C>A p.A88D Missense 4/63 - 3
11-108099982-C-G c.263C>G p.A88G Missense 4/63 - 1
11-108099982-C-T c.263C>T p.A88V Missense 4/63 - 3
11-108099984-CT-C c.265del p.S89Pfs*27 Frameshift 4/63 - 1
11-108099984-T-A c.265T>A p.S89T Missense 4/63 - 1
11-108099984-T-C c.265T>C p.S89P Missense 4/63 - 1
11-108099984-TC-AA c.265_266delinsAA p.S89N Missense 4/63 - 2
11-108099984-TC-GG c.265_266delinsGG p.S89G Missense 4/63 - 1
11-108099984-T-G c.265T>G p.S89A Missense 4/63 - 3
11-108099985-C-G c.266C>G p.S89C Missense 4/63 - 1
11-108099985-C-T c.266C>T p.S89F Missense 4/63 - 5
11-108099986-C-CT c.267_268insT p.R90* Nonsense 4/63 - 2
11-108099987-A-G c.268A>G p.R90G Missense 4/63 - 3
11-108099987-AG-CA c.268_269delinsCA p.R90Q Missense 4/63 - 1
11-108099987-AG-GC c.268_269delinsGC p.R90A Missense 4/63 - 1
11-108099987-AGG-CAT c.268_270delinsCAT p.R90H Missense 4/63 - 1
11-108099987-AGG-GAC c.268_270delinsGAC p.R90D Missense 4/63 - 1
11-108099987-A-T c.268A>T p.R90W Missense 4/63 - 4
11-108099987-CA-C c.268del p.R90Gfs*26 Frameshift 4/63 - 1
11-108099988-G-A c.269G>A p.R90K Missense 4/63 - 4
11-108099988-G-C c.269G>C p.R90T Missense 4/63 - 1
11-108099988-GG-AC c.269_270delinsAC p.R90N Missense 4/63 - 1
11-108099988-G-T c.269G>T p.R90M Missense 4/63 - 1
11-108099987-AG-A c.270del p.R90Sfs*26 Frameshift 4/63 - 1
11-108099989-G-T c.270G>T p.R90S Missense 4/63 - 2
11-108099988-GGCA-G c.271_273del p.Q91del InFrameDeletion 4/63 - 3
11-108099990-C-T c.271C>T p.Q91* Nonsense 4/63 - 2
11-108099991-A-C c.272A>C p.Q91P Missense 4/63 - 1
11-108099991-CA-C c.272del p.Q91Rfs*25 Frameshift 4/63 - 1
11-108099992-AGAAAAAG-A c.273_279del p.K92Cfs*22 Frameshift 4/63 - 1
11-108099992-G-C c.273G>C p.Q91H Missense 4/63 - 1
11-108099992-G-T c.273G>T p.Q91H Missense 4/63 - 3
11-108099993-AA-GC c.274_275delinsGC p.K92A Missense 4/63 - 1
11-108099993-A-C c.274A>C p.K92Q Missense 4/63 - 2
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 - 19
11-108099994-A-G c.275A>G p.K92R Missense 4/63 - 2
11-108099995-A-G c.276A>G p.K92= Synonymous 4/63 - 1
11-108099996-A-G c.277A>G p.K93E Missense 4/63 - 1
11-108099996-A-T c.277A>T p.K93* Nonsense 4/63 - 1
11-108099992-GA-G c.278del p.K93Rfs*23 Frameshift 4/63 - 2
11-108099997-A-AAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAGCAGCAGTATGGCTTCCAGTACCCCCTTGC c.278_279insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAGCAGCAGTATGGCTTCCAGTACCCCCTTGC p.M94Dfs*14 Frameshift 4/63 - 1
11-108099997-A-G c.278A>G p.K93R Missense 4/63 - 2
11-108099997-A-T c.278A>T p.K93M Missense 4/63 - 1
11-108099997-A-AG c.279dup p.M94Dfs*6 Frameshift 4/63 - 1
11-108099998-G-A c.279G>A p.K93= Synonymous 4/63 - 1
11-108099998-G-C c.279G>C p.K93N Missense 4/63 - 5
11-108099998-G-T c.279G>T p.K93N Missense 4/63 - 8
11-108099997-AGAT-A c.280_282del p.M94del InFrameDeletion 4/63 - 1
11-108099999-A-G c.280A>G p.M94V Missense 4/63 - 4
11-108100001-G-A c.282G>A p.M94I Missense 4/63 - 2
11-108100001-G-C c.282G>C p.M94I Missense 4/63 - 2
11-108100001-G-T c.282G>T p.M94I Missense 4/63 - 3
11-108100002-C-A c.283C>A p.Q95K Missense 4/63 - 11
11-108100002-C-G c.283C>G p.Q95E Missense 4/63 - 2
11-108100002-C-T c.283C>T p.Q95* Nonsense 4/63 - 12
11-108100003-A-C c.284A>C p.Q95P Missense 4/63 - 1
11-108100003-A-G c.284A>G p.Q95R Missense 4/63 - 1
11-108100003-A-T c.284A>T p.Q95L Missense 4/63 - 1
11-108100004-G-A c.285G>A p.Q95= Synonymous 4/63 - 1
11-108100005-G-A c.286G>A p.E96K Missense 4/63 - 2
11-108100005-GAA-TGT c.286_288delinsTGT p.E96C Missense 4/63 - 1
11-108100005-G-C c.286G>C p.E96Q Missense 4/63 - 2
11-108100005-GGAA-G c.286_288del p.E96del InFrameDeletion 4/63 - 1
11-108100005-GA-G c.289del p.I97Sfs*19 Frameshift 4/63 - 3
11-108100005-G-GA c.289dup p.I97Nfs*3 Frameshift 4/63 - 1
11-108100008-A-C c.289A>C p.I97L Missense 4/63 - 1
11-108100008-A-G c.289A>G p.I97V Missense 4/63 - 4
11-108100008-A-AT c.290dup p.S98Qfs*2 Frameshift 4/63 - 1
11-108100009-T-C c.290T>C p.I97T Missense 4/63 - 3
11-108100009-TC-GG c.290_291delinsGG p.I97R Missense 4/63 - 1
11-108100010-C-A c.291C>A p.I97= Synonymous 4/63 - 1
11-108100011-A-C c.292A>C p.S98R Missense 4/63 - 3
11-108100011-A-G c.292A>G p.S98G Missense 4/63 - 1
11-108100011-AG-GC c.292_293delinsGC p.S98A Missense 4/63 - 1
11-108100011-AGT-CAA c.292_294delinsCAA p.S98Q Missense 4/63 - 1
11-108100011-A-T c.292A>T p.S98C Missense 4/63 - 1
11-108100012-G-A c.293G>A p.S98N Missense 4/63 - 1
11-108100014-A-G c.295A>G p.S99G Missense 4/63 - 18
11-108100014-AG-CT c.295_296inv p.S99L Missense 4/63 - 1
11-108100014-AG-GC c.295_296delinsGC p.S99A Missense 4/63 - 3
11-108100014-A-T c.295A>T p.S99C Missense 4/63 - 1
11-108100015-G-A c.296G>A p.S99N Missense 4/63 - 2
11-108100014-A-C c.295A>C p.S99R Missense 4/63 - 1
11-108100016-T-A c.297T>A p.S99R Missense 4/63 - 1
11-108100016-T-G c.297T>G p.S99R Missense 4/63 - 2
11-108100017-T-C c.298T>C p.L100= Synonymous 4/63 - 1
11-108100017-TT-CA c.298_299delinsCA p.L100Q Missense 4/63 - 1
11-108100017-TT-CC c.298_299delinsCC p.L100P Missense 4/63 - 1
11-108100017-TTG-GAC c.298_300delinsGAC p.L100D Missense 4/63 - 1
11-108100016-TTTGGTCAAA-T c.299_307del p.L100_K102del InFrameDeletion 4/63 - 1
11-108100018-T-A c.299T>A p.L100* Nonsense 4/63 - 3
11-108100018-T-C c.299T>C p.L100S Missense 4/63 - 1
11-108100018-T-G c.299T>G p.L100W Missense 4/63 - 4
11-108100018-T-TA c.299_300insA p.V101Gfs*14 Frameshift 4/63 - 1
11-108100019-G-C c.300G>C p.L100F Missense 4/63 - 1
11-108100019-G-T c.300G>T p.L100F Missense 4/63 - 1
11-108100020-G-A c.301G>A p.V101I Missense 4/63 - 2
11-108100021-GT-G c.302del p.V101Afs*15 Frameshift 4/63 - 1
11-108100021-T-C c.302T>C p.V101A Missense 4/63 - 1
11-108100021-T-G c.302T>G p.V101G Missense 4/63 - 1
11-108100023-A-G c.304A>G p.K102E Missense 4/63 - 1
11-108100023-A-T c.304A>T p.K102* Nonsense 4/63 - 1
11-108100024-A-C c.305A>C p.K102T Missense 4/63 - 1
11-108100024-A-G c.305A>G p.K102R Missense 4/63 - 1
11-108100024-A-T c.305A>T p.K102I Missense 4/63 - 1
11-108100025-A-C c.306A>C p.K102N Missense 4/63 - 1
11-108100025-A-T c.306A>T p.K102N Missense 4/63 - 1
11-108100026-T-A c.307T>A p.Y103N Missense 4/63 - 2
11-108100027-A-C c.308A>C p.Y103S Missense 4/63 - 1
11-108100027-A-G c.308A>G p.Y103C Missense 4/63 - 1
11-108100028-C-A c.309C>A p.Y103* Nonsense 4/63 - 4
11-108100028-C-G c.309C>G p.Y103* Nonsense 4/63 - 4
11-108100028-C-T c.309C>T p.Y103= Synonymous 4/63 - 4
11-108100029-T-C c.310T>C p.F104L Missense 4/63 - 1
11-108100029-T-G c.310T>G p.F104V Missense 4/63 - 2
11-108100028-CT-C c.311del p.F104Sfs*12 Frameshift 4/63 - 2
11-108100031-C-A c.312C>A p.F104L Missense 4/63 - 1
11-108100032-A-G c.313A>G p.I105V Missense 4/63 - 4
11-108100033-T-C c.314T>C p.I105T Missense 4/63 - 2
11-108100034-C-A c.315C>A p.I105= Synonymous 4/63 - 3
11-108100034-C-G c.315C>G p.I105M Missense 4/63 - 1
11-108100034-C-T c.315C>T p.I105= Synonymous 4/63 - 4
11-108100035-A-G c.316A>G p.K106E Missense 4/63 - 3
11-108100036-A-C c.317A>C p.K106T Missense 4/63 - 1
11-108100036-A-G c.317A>G p.K106R Missense 4/63 - 3
11-108100036-A-T c.317A>T p.K106I Missense 4/63 - 1
11-108100037-A-C c.318A>C p.K106N Missense 4/63 - 1
11-108100038-T-C c.319T>C p.C107R Missense 4/63 - 2
11-108100038-T-G c.319T>G p.C107G Missense 4/63 - 1
11-108100038-T-TG c.320dup p.C107Wfs*8 Frameshift 4/63 - 1
11-108100039-G-A c.320G>A p.C107Y Missense 4/63 - 11
11-108100040-T-C c.321T>C p.C107= Synonymous 4/63 - 1
11-108100041-G-A c.322G>A p.A108T Missense 4/63 - 3
11-108100042-C-A c.323C>A p.A108E Missense 4/63 - 1
11-108100042-C-G c.323C>G p.A108G Missense 4/63 - 4
11-108100042-C-T c.323C>T p.A108V Missense 4/63 - 3
11-108100042-GC-G c.323del p.A108Efs*8 Frameshift 4/63 - 1
11-108100043-A-G c.324A>G p.A108= Synonymous 4/63 - 1
11-108100044-A-G c.325A>G p.N109D Missense 4/63 - 1
11-108100044-A-T c.325A>T p.N109Y Missense 4/63 - 1
11-108100042-C-CA c.326dup p.N109Kfs*6 Frameshift 4/63 - 1
11-108100045-A-T c.326A>T p.N109I Missense 4/63 - 1
11-108100046-C-G c.327C>G p.N109K Missense 4/63 - 1
11-108100047-A-G c.328A>G p.R110G Missense 4/63 - 2
11-108100047-AGA-CAT c.328_330delinsCAT p.R110H Missense 4/63 - 1
11-108100047-AGA-TGT c.328_330delinsTGT p.R110C Missense 4/63 - 2
11-108100047-AG-CA c.328_329delinsCA p.R110Q Missense 4/63 - 1
11-108100047-AG-CC c.328_329delinsCC p.R110P Missense 4/63 - 4
11-108100047-AG-CT c.328_329inv p.R110L Missense 4/63 - 2
11-108100047-A-T c.328A>T p.R110* Nonsense 4/63 - 5
11-108100048-G-A c.329G>A p.R110K Missense 4/63 - 1
11-108100049-A-C c.330A>C p.R110S Missense 4/63 - 3
11-108100049-A-T c.330A>T p.R110S Missense 4/63 - 2
11-108100050-A-G c.331A>G p.R111G Missense 4/63 - 2
11-108100050-A-T c.331A>T p.R111* Nonsense 4/63 - 2
11-108100051-G-A c.331+1G>A - IntronicSNV - 4/62 4
11-108100052-T-G c.331+2T>G - IntronicSNV - 4/62 2
11-108100055-G-A c.331+5G>A - IntronicSNV - 4/62 5
11-108100094-C-A c.331+44C>A - IntronicSNV - 4/62 1
11-108100100-C-A c.331+50C>A - IntronicSNV - 4/62 1
11-108100100-C-G c.331+50C>G - IntronicSNV - 4/62 1
11-108100100-C-T c.331+50C>T - IntronicSNV - 4/62 2
11-108100105-G-T c.331+55G>T - IntronicSNV - 4/62 2
11-108100112-T-C c.331+62T>C - IntronicSNV - 4/62 1
11-108100105-G-GT c.331+69dup - IntronicInsertion - 4/62 2
11-108100120-C-T c.331+70C>T - IntronicSNV - 4/62 1
11-108100222-GT-G c.331+181del - IntronicDeletion - 4/62 1
11-108100734-A-T c.331+684A>T - IntronicSNV - 4/62 1
11-108101492-A-G c.331+1442A>G - IntronicSNV - 4/62 1
11-108101492-A-T c.331+1442A>T - IntronicSNV - 4/62 1
11-108101919-C-T c.331+1869C>T - IntronicSNV - 4/62 3
11-108104525-A-G c.332-1872A>G - IntronicSNV - 4/62 1
11-108104698-T-C c.332-1699T>C - IntronicSNV - 4/62 2
11-108105085-A-C c.332-1312A>C - IntronicSNV - 4/62 1
11-108105593-G-A c.332-804G>A - IntronicSNV - 4/62 17
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 4
11-108106396-G-A c.332-1G>A - IntronicSNV - 4/62 1
11-108106394-TAGG-T c.332_334del p.R111_A112delinsT SpliceAcceptorDeletion 5/63 - 1
11-108106395-AG-A c.332del p.R111Kfs*5 Frameshift 5/63 - 1
11-108106397-G-A c.332G>A p.R111K Missense 5/63 - 1
11-108106397-G-C c.332G>C p.R111T Missense 5/63 - 2
11-108106397-G-GA c.333dup p.A112Sfs*3 SpliceAcceptorInsertion 5/63 - 1
11-108106398-A-G c.333A>G p.R111= Synonymous 5/63 - 2
11-108106399-G-A c.334G>A p.A112T Missense 5/63 - 13
11-108106399-G-T c.334G>T p.A112S Missense 5/63 - 2
11-108106400-C-A c.335C>A p.A112E Missense 5/63 - 1
11-108106400-CA-AC c.335_336delinsAC p.A112D Missense 5/63 - 1
11-108106400-C-T c.335C>T p.A112V Missense 5/63 - 2
11-108106401-A-G c.336A>G p.A112= Synonymous 5/63 - 1
11-108106402-C-G c.337C>G p.P113A Missense 5/63 - 2
11-108106402-C-T c.337C>T p.P113S Missense 5/63 - 1
11-108106401-AC-A c.338del p.P113Lfs*3 Frameshift 5/63 - 1
11-108106403-C-A c.338C>A p.P113H Missense 5/63 - 1
11-108106403-C-T c.338C>T p.P113L Missense 5/63 - 8
11-108106403-CT-AA c.338_339delinsAA p.P113Q Missense 5/63 - 1
11-108106405-AG-CA c.340_341delinsCA p.R114Q Missense 5/63 - 1
11-108106405-AGG-CAT c.340_342delinsCAT p.R114H Missense 5/63 - 2
11-108106405-AGG-TGT c.340_342delinsTGT p.R114C Missense 5/63 - 3
11-108106405-A-T c.340A>T p.R114W Missense 5/63 - 1
11-108106406-G-A c.341G>A p.R114K Missense 5/63 - 8
11-108106406-G-C c.341G>C p.R114T Missense 5/63 - 1
11-108106408-C-A c.343C>A p.L115I Missense 5/63 - 1
11-108106408-C-G c.343C>G p.L115V Missense 5/63 - 1
11-108106408-CTA-TTT c.343_345delinsTTT p.L115F Missense 5/63 - 1
11-108106409-T-C c.344T>C p.L115P Missense 5/63 - 2
11-108106409-T-G c.344T>G p.L115R Missense 5/63 - 1
11-108106410-A-AT c.345_346insT p.K116* Nonsense 5/63 - 1
11-108106411-A-C c.346A>C p.K116Q Missense 5/63 - 1
11-108106411-A-T c.346A>T p.K116* Nonsense 5/63 - 1
11-108106409-TAA-T c.347_348del p.K116Mfs*17 Frameshift 5/63 - 1
11-108106409-TA-T c.348del p.K116Nfs*6 Frameshift 5/63 - 1
11-108106413-A-C c.348A>C p.K116N UnclassifiedSNV 5/63 - 2
11-108106413-A-G c.348A>G p.K116= Synonymous 5/63 - 1
11-108106413-A-T c.348A>T p.K116N Missense 5/63 - 2
11-108106414-T-A c.349T>A p.C117S Missense 5/63 - 2
11-108106414-T-G c.349T>G p.C117G Missense 5/63 - 1
11-108106415-G-C c.350G>C p.C117S Missense 5/63 - 2
11-108106415-G-A c.350G>A p.C117Y Missense 5/63 - 4
11-108106415-G-T c.350G>T p.C117F Missense 5/63 - 1
11-108106416-T-A c.351T>A p.C117* Nonsense 5/63 - 1
11-108106417-C-G c.352C>G p.Q118E Missense 5/63 - 2
11-108106417-C-T c.352C>T p.Q118* Nonsense 5/63 - 5
11-108106417-TCAAG-T c.352_355del p.Q118Nfs*3 Frameshift 5/63 - 1
11-108106418-A-G c.353A>G p.Q118R Missense 5/63 - 2
11-108106420-G-A c.355G>A p.E119K Missense 5/63 - 1
11-108106420-G-T c.355G>T p.E119* Nonsense 5/63 - 4
11-108106421-A-C c.356A>C p.E119A Missense 5/63 - 2
11-108106421-A-T c.356A>T p.E119V Missense 5/63 - 1
11-108106420-G-GA c.357dup p.L120Tfs*14 Frameshift 5/63 - 3
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-AC-A c.358del p.L120Sfs*2 Frameshift 5/63 - 1
11-108106423-C-T c.358C>T p.L120F Missense 5/63 - 3
11-108106423-CTC-GAG c.358_360inv p.L120E Missense 5/63 - 1
11-108106423-CT-TG c.358_359delinsTG p.L120C Missense 5/63 - 1
11-108106424-T-A c.359T>A p.L120H Missense 5/63 - 1
11-108106424-T-C c.359T>C p.L120P Missense 5/63 - 1
11-108106424-TC-AA c.359_360delinsAA p.L120Q Missense 5/63 - 1
11-108106424-T-G c.359T>G p.L120R Missense 5/63 - 3
11-108106425-C-A c.360C>A p.L120= Synonymous 5/63 - 1
11-108106425-C-G c.360C>G p.L120= Synonymous 5/63 - 1
11-108106425-C-T c.360C>T p.L120= Synonymous 5/63 - 2
11-108106426-T-A c.361T>A p.L121I Missense 5/63 - 3
11-108106426-T-C c.361T>C p.L121= Synonymous 5/63 - 3
11-108106426-TT-AC c.361_362delinsAC p.L121T Missense 5/63 - 1
11-108106426-TT-CC c.361_362delinsCC p.L121P Missense 5/63 - 3
11-108106426-TT-GC c.361_362delinsGC p.L121A Missense 5/63 - 1
11-108106428-A-G c.363A>G p.L121= Synonymous 5/63 - 3
11-108106425-CT-C c.362del p.L121* Frameshift 5/63 - 1
11-108106427-T-A c.362T>A p.L121* Nonsense 5/63 - 3
11-108106425-CTTAAA-C c.364_368del p.N122Yfs*10 Frameshift 5/63 - 2
11-108106429-A-C c.364A>C p.N122H Missense 5/63 - 1
11-108106427-TA-T c.365del p.N122Ifs*7 Frameshift 5/63 - 1
11-108106430-A-C c.365A>C p.N122T Missense 5/63 - 2
11-108106430-A-G c.365A>G p.N122S Missense 5/63 - 3
11-108106433-A-G c.368A>G p.Y123C Missense 5/63 - 4
11-108106433-A-T c.368A>T p.Y123F Missense 5/63 - 1
11-108106433-TA-T c.368del p.Y123Lfs*6 Frameshift 5/63 - 7
11-108106434-T-A c.369T>A p.Y123* Nonsense 5/63 - 1
11-108106434-T-C c.369T>C p.Y123= Synonymous 5/63 - 1
11-108106434-T-G c.369T>G p.Y123* Nonsense 5/63 - 1
11-108106432-TATATC-T c.370_374del p.I124Gfs*8 Frameshift 5/63 - 1
11-108106435-A-G c.370A>G p.I124V Missense 5/63 - 15
11-108106435-AT-GA c.370_371delinsGA p.I124D Missense 5/63 - 1
11-108106436-AT-A c.371del p.I124Tfs*5 Frameshift 5/63 - 1
11-108106436-T-C c.371T>C p.I124T Missense 5/63 - 3
11-108106437-C-A c.372C>A p.I124= Synonymous 5/63 - 7
11-108106437-C-T c.372C>T p.I124= Synonymous 5/63 - 4
11-108106438-A-C c.373A>C p.M125L Missense 5/63 - 1
11-108106438-A-G c.373A>G p.M125V Missense 5/63 - 2
11-108106438-A-T c.373A>T p.M125L Missense 5/63 - 1
11-108106440-G-A c.375G>A p.M125I Missense 5/63 - 2
11-108106440-G-T c.375G>T p.M125I Missense 5/63 - 1
11-108106441-G-A c.376G>A p.D126N Missense 5/63 - 2
11-108106442-A-G c.377A>G p.D126G Missense 5/63 - 2
11-108106443-AT-A c.378del p.D126Efs*3 Frameshift 5/63 - 3
11-108106443-T-A c.378T>A p.D126E Missense 5/63 - 47
11-108106443-T-C c.378T>C p.D126= Synonymous 5/63 - 1
11-108106443-T-G c.378T>G p.D126E Missense 5/63 - 8
11-108106444-A-G c.379A>G p.T127A Missense 5/63 - 4
11-108106444-A-T c.379A>T p.T127S Missense 5/63 - 2
11-108106445-C-CATA c.381_382insTAA p.T127_V128ins* InFrameInsertion 5/63 - 2
11-108106446-A-C c.381A>C p.T127= Synonymous 5/63 - 1
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-CA-C c.381del p.V128* Frameshift 5/63 - 16
11-108106447-G-A c.382G>A p.V128M Missense 5/63 - 3
11-108106447-G-C c.382G>C p.V128L Missense 5/63 - 1
11-108106447-G-T c.382G>T p.V128L Missense 5/63 - 2
11-108106447-GT-TA c.382_383delinsTA p.V128* Nonsense 5/63 - 2
11-108106448-T-C c.383T>C p.V128A Missense 5/63 - 1
11-108106450-AA-GC c.385_386delinsGC p.K129A Missense 5/63 - 1
11-108106450-A-G c.385A>G p.K129E Missense 5/63 - 3
11-108106450-A-T c.385A>T p.K129* Nonsense 5/63 - 5
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
11-108106451-A-G c.386A>G p.K129R Missense 5/63 - 1
11-108106449-GA-G c.387del p.D130Ifs*23 Frameshift 5/63 - 4
11-108106452-A-C c.387A>C p.K129N Missense 5/63 - 1
11-108106452-A-G c.387A>G p.K129= Synonymous 5/63 - 1
11-108106452-A-T c.387A>T p.K129N Missense 5/63 - 1
11-108106453-G-A c.388G>A p.D130N Missense 5/63 - 4
11-108106453-G-C c.388G>C p.D130H Missense 5/63 - 1
11-108106453-G-T c.388G>T p.D130Y Missense 5/63 - 3
11-108106454-A-C c.389A>C p.D130A Missense 5/63 - 12
11-108106454-A-G c.389A>G p.D130G Missense 5/63 - 2
11-108106454-A-T c.389A>T p.D130V Missense 5/63 - 4
11-108106455-T-A c.390T>A p.D130E Missense 5/63 - 2
11-108106455-T-C c.390T>C p.D130= Synonymous 5/63 - 1
11-108106455-T-G c.390T>G p.D130E Missense 5/63 - 1
11-108106456-T-C c.391T>C p.S131P 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 - 9
11-108106457-CA-AT c.392_393delinsAT p.S131Y Missense 5/63 - 1
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 - 8
11-108106457-C-T c.392C>T p.S131L Missense 5/63 - 1
11-108106459-T-A c.394T>A p.S132T Missense 5/63 - 1
11-108106459-T-C c.394T>C p.S132P Missense 5/63 - 1
11-108106459-TC-AT c.394_395delinsAT p.S132I Missense 5/63 - 1
11-108106459-TC-CG c.394_395delinsCG p.S132R Missense 5/63 - 1
11-108106459-TCT-CAA c.394_396delinsCAA p.S132Q Missense 5/63 - 1
11-108106459-T-G c.394T>G p.S132A Missense 5/63 - 3
11-108106460-C-T c.395C>T p.S132F Missense 5/63 - 6
11-108106460-C-CT c.396dup p.N133* Nonsense 5/63 - 1
11-108106462-A-G c.397A>G p.N133D Missense 5/63 - 4
11-108106462-A-T c.397A>T p.N133Y Missense 5/63 - 1
11-108106461-TA-T c.398del p.N133Mfs*20 Frameshift 5/63 - 1
11-108106463-A-G c.398A>G p.N133S Missense 5/63 - 6
11-108106463-A-T c.398A>T p.N133I Missense 5/63 - 3
11-108106464-T-A c.399T>A p.N133K Missense 5/63 - 1
11-108106465-G-A c.400G>A p.G134S Missense 5/63 - 7
11-108106465-G-C c.400G>C p.G134R Missense 5/63 - 3
11-108106465-G-T c.400G>T p.G134C Missense 5/63 - 3
11-108106466-G-A c.401G>A p.G134D Missense 5/63 - 8
11-108106466-G-T c.401G>T p.G134V Missense 5/63 - 3
11-108106468-G-A c.403G>A p.A135T Missense 5/63 - 3
11-108106468-G-C c.403G>C p.A135P Missense 5/63 - 1
11-108106469-C-A c.404C>A p.A135D Missense 5/63 - 2
11-108106469-C-G c.404C>G p.A135G Missense 5/63 - 1
11-108106469-C-T c.404C>T p.A135V Missense 5/63 - 4
11-108106469-CTAT-C c.406_408del p.I136del InFrameDeletion 5/63 - 1
11-108106471-A-C c.406A>C p.I136L Missense 5/63 - 1
11-108106471-A-G c.406A>G p.I136V Missense 5/63 - 2
11-108106472-T-A c.407T>A p.I136N Missense 5/63 - 1
11-108106472-T-C c.407T>C p.I136T Missense 5/63 - 2
11-108106473-T-G c.408T>G p.I136M Missense 5/63 - 1
11-108106471-AT-A c.409del p.Y137Tfs*16 Frameshift 5/63 - 2
11-108106474-T-C c.409T>C p.Y137H Missense 5/63 - 4
11-108106474-T-G c.409T>G p.Y137D Missense 5/63 - 1
11-108106475-A-T c.410A>T p.Y137F Missense 5/63 - 2
11-108106476-AC-A c.411del p.Y137* Frameshift 5/63 - 1
11-108106476-C-A c.411C>A p.Y137* Nonsense 5/63 - 2
11-108106476-C-T c.411C>T p.Y137= Synonymous 5/63 - 5
11-108106477-G-A c.412G>A p.G138R Missense 5/63 - 11
11-108106477-G-C c.412G>C p.G138R Missense 5/63 - 7
11-108106477-G-T c.412G>T p.G138* Nonsense 5/63 - 1
11-108106478-G-A c.413G>A p.G138E Missense 5/63 - 2
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
11-108106478-G-T c.413G>T p.G138V Missense 5/63 - 1
11-108106479-A-G c.414A>G p.G138= Synonymous 5/63 - 1
11-108106480-G-T c.415G>T p.A139S Missense 5/63 - 2
11-108106481-C-T c.416C>T p.A139V Missense 5/63 - 2
11-108106481-CT-AG c.416_417inv p.A139E Missense 5/63 - 1
11-108106482-T-A c.417T>A p.A139= Synonymous 5/63 - 1
11-108106482-T-C c.417T>C p.A139= Synonymous 5/63 - 1
11-108106482-T-G c.417T>G p.A139= Synonymous 5/63 - 1
11-108106483-G-A c.418G>A p.D140N Missense 5/63 - 3
11-108106483-G-C c.418G>C p.D140H Missense 5/63 - 10
11-108106483-G-T c.418G>T p.D140Y Missense 5/63 - 3
11-108106484-A-C c.419A>C p.D140A Missense 5/63 - 1
11-108106485-T-C c.420T>C p.D140= Synonymous 5/63 - 1
11-108106484-ATTG-A c.421_423del p.C141del InFrameDeletion 5/63 - 1
11-108106486-T-C c.421T>C p.C141R Missense 5/63 - 2
11-108106486-T-G c.421T>G p.C141G Missense 5/63 - 2
11-108106486-TG-GC c.421_422delinsGC p.C141A Missense 5/63 - 1
11-108106487-G-A c.422G>A p.C141Y Missense 5/63 - 5
11-108106487-TG-T c.422del p.C141Lfs*12 Frameshift 5/63 - 3
11-108106488-T-G c.423T>G p.C141W Missense 5/63 - 2
11-108106489-A-G c.424A>G p.S142G Missense 5/63 - 1
11-108106489-AG-CC c.424_425delinsCC p.S142P Missense 5/63 - 1
11-108106489-AG-CT c.424_425inv p.S142L Missense 5/63 - 1
11-108106489-AG-GC c.424_425delinsGC p.S142A Missense 5/63 - 1
11-108106489-AG-TA c.424_425delinsTA p.S142Y Missense 5/63 - 1
11-108106490-G-A c.425G>A p.S142N Missense 5/63 - 2
11-108106490-G-T c.425G>T p.S142I Missense 5/63 - 1
11-108106492-A-G c.427A>G p.N143D Missense 5/63 - 3
11-108106491-CA-C c.428del p.N143Tfs*10 Frameshift 5/63 - 1
11-108106493-A-G c.428A>G p.N143S Missense 5/63 - 3
11-108106494-C-A c.429C>A p.N143K Missense 5/63 - 1
11-108106495-A-G c.430A>G p.I144V Missense 5/63 - 3
11-108106495-A-T c.430A>T p.I144L Missense 5/63 - 1
11-108106494-CAT-C c.431_432del p.I144Tfs*14 Frameshift 5/63 - 1
11-108106496-T-TA c.432dup p.L145Tfs*14 Frameshift 5/63 - 3
11-108106497-A-G c.432A>G p.I144M Missense 5/63 - 4
11-108106497-TAC-T c.432_433del p.L145Tfs*13 Frameshift 5/63 - 1
11-108106497-TA-T c.432del p.L145Yfs*8 Frameshift 5/63 - 2
11-108106498-C-A c.433C>A p.L145I Missense 5/63 - 1
11-108106498-C-G c.433C>G p.L145V Missense 5/63 - 2
11-108106498-C-T c.433C>T p.L145= Synonymous 5/63 - 1
11-108106498-CTA-ATG c.433_435delinsATG p.L145M Missense 5/63 - 1
11-108106499-T-A c.434T>A p.L145Q Missense 5/63 - 1
11-108106499-T-C c.434T>C p.L145P Missense 5/63 - 2
11-108106499-T-G c.434T>G p.L145R Missense 5/63 - 7
11-108106501-C-A c.436C>A p.L146I Missense 5/63 - 1
11-108106500-ACT-A c.437_438del p.L146Qfs*12 Frameshift 5/63 - 1
11-108106502-TCAAA-ACAAT c.437_441delinsACAAT p.L146_K147delinsHN MultiAAMissense 5/63 - 1
11-108106502-T-G c.437T>G p.L146R Missense 5/63 - 1
11-108106503-C-G c.438C>G p.L146= Synonymous 5/63 - 1
11-108106504-A-G c.439A>G p.K147E Missense 5/63 - 7
11-108106505-A-C c.440A>C p.K147T Missense 5/63 - 1
11-108106505-A-G c.440A>G p.K147R Missense 5/63 - 4
11-108106503-C-CA c.441dup p.D148Rfs*11 Frameshift 5/63 - 2
11-108106506-A-AG c.442dup p.D148Gfs*11 Frameshift 5/63 - 3
11-108106507-G-A c.442G>A p.D148N Missense 5/63 - 5
11-108106507-GAC-CAA c.442_444delinsCAA p.D148Q Missense 5/63 - 1
11-108106507-G-C c.442G>C p.D148H Missense 5/63 - 2
11-108106507-G-T c.442G>T p.D148Y Missense 5/63 - 3
11-108106508-A-C c.443A>C p.D148A Missense 5/63 - 5
11-108106508-A-G c.443A>G p.D148G Missense 5/63 - 1
11-108106508-A-T c.443A>T p.D148V Missense 5/63 - 1
11-108106509-C-A c.444C>A p.D148E Missense 5/63 - 12
11-108106509-C-G c.444C>G p.D148E Missense 5/63 - 12
11-108106510-A-G c.445A>G p.I149V Missense 5/63 - 2
11-108106510-A-T c.445A>T p.I149F Missense 5/63 - 2
11-108106510-CATT-C c.445_447del p.I149del InFrameDeletion 5/63 - 1
11-108106511-T-A c.446T>A p.I149N Missense 5/63 - 1
11-108106511-T-C c.446T>C p.I149T Missense 5/63 - 2
11-108106513-C-A c.448C>A p.L150I Missense 5/63 - 1
11-108106513-C-G c.448C>G p.L150V Missense 5/63 - 1
11-108106513-C-T c.448C>T p.L150F Missense 5/63 - 2
11-108106514-T-C c.449T>C p.L150P Missense 5/63 - 2
11-108106514-T-G c.449T>G p.L150R Missense 5/63 - 1
11-108106510-ATTCT-A c.450_453del p.S151* Frameshift 5/63 - 9
11-108106513-CT-C c.451del p.S151Lfs*2 Frameshift 5/63 - 1
11-108106515-T-TTAA c.451_452insAAT p.L150_S151ins* InFrameInsertion 5/63 - 1
11-108106516-T-C c.451T>C p.S151P Missense 5/63 - 1
11-108106516-TC-AT c.451_452delinsAT p.S151I Missense 5/63 - 1
11-108106516-TC-CG c.451_452delinsCG p.S151R Missense 5/63 - 1
11-108106516-TC-GA c.451_452inv p.S151D Missense 5/63 - 1
11-108106516-TC-GT c.451_452delinsGT p.S151V Missense 5/63 - 1
11-108106516-T-G c.451T>G p.S151A Missense 5/63 - 2
11-108106516-T-TAA c.451_452insAA p.S151* Nonsense 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
11-108106518-T-TTAA c.453_454insTAA p.S151_V152ins* InFrameInsertion 5/63 - 1
11-108106519-G-A c.454G>A p.V152M Missense 5/63 - 1
11-108106519-G-C c.454G>C p.V152L Missense 5/63 - 1
11-108106519-GTG-ATC c.454_456delinsATC p.V152I Missense 5/63 - 2
11-108106519-TG-T c.454del p.V152* Frameshift 5/63 - 3
11-108106520-T-C c.455T>C p.V152A Missense 5/63 - 2
11-108106520-T-G c.455T>G p.V152G Missense 5/63 - 1
11-108106521-G-GT c.456_457insT p.R153* Nonsense 5/63 - 1
11-108106521-G-T c.456G>T p.V152= Synonymous 5/63 - 1
11-108106522-A-G c.457A>G p.R153G Missense 5/63 - 4
11-108106522-AGA-CAT c.457_459delinsCAT p.R153H Missense 5/63 - 1
11-108106522-AGA-TGG c.457_459delinsTGG p.R153W Missense 5/63 - 1
11-108106522-AGA-TGT c.457_459delinsTGT p.R153C Missense 5/63 - 1
11-108106522-AG-CC c.457_458delinsCC p.R153P Missense 5/63 - 1
11-108106522-AG-CT c.457_458inv p.R153L Missense 5/63 - 1
11-108106523-G-A c.458G>A p.R153K Missense 5/63 - 4
11-108106523-G-T c.458G>T p.R153I Missense 5/63 - 2
11-108106525-AA-GC c.460_461delinsGC p.K154A Missense 5/63 - 1
11-108106526-A-C c.461A>C p.K154T Missense 5/63 - 1
11-108106526-A-T c.461A>T p.K154I Missense 5/63 - 3
11-108106527-A-G c.462A>G p.K154= Synonymous 5/63 - 2
11-108106528-T-G c.463T>G p.Y155D Missense 5/63 - 1
11-108106529-A-G c.464A>G p.Y155C Missense 5/63 - 5
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 - 7
11-108106532-G-C c.467G>C p.W156S Missense 5/63 - 1
11-108106532-G-T c.467G>T p.W156L Missense 5/63 - 2
11-108106531-TG-T c.468del p.W156Cfs*10 Frameshift 5/63 - 1
11-108106533-G-A c.468G>A p.W156* Nonsense 5/63 - 9
11-108106533-G-C c.468G>C p.W156C Missense 5/63 - 1
11-108106533-G-T c.468G>T p.W156C Missense 5/63 - 1
11-108106534-T-G c.469T>G p.C157G Missense 5/63 - 2
11-108106534-TG-AC c.469_470delinsAC p.C157T Missense 5/63 - 4
11-108106534-TG-GC c.469_470delinsGC p.C157A Missense 5/63 - 1
11-108106536-T-A c.471T>A p.C157* Nonsense 5/63 - 2
11-108106536-T-C c.471T>C p.C157= Synonymous 5/63 - 1
11-108106537-G-A c.472G>A p.E158K Missense 5/63 - 4
11-108106537-GAA-TGT c.472_474delinsTGT p.E158C Missense 5/63 - 1
11-108106537-G-C c.472G>C p.E158Q Missense 5/63 - 8
11-108106537-G-T c.472G>T p.E158* Nonsense 5/63 - 3
11-108106539-A-C c.474A>C p.E158D Missense 5/63 - 2
11-108106539-A-T c.474A>T p.E158D Missense 5/63 - 1
11-108106537-GA-G c.475del p.I159Yfs*7 Frameshift 5/63 - 2
11-108106540-A-C c.475A>C p.I159L Missense 5/63 - 1
11-108106540-A-G c.475A>G p.I159V Missense 5/63 - 3
11-108106540-A-T c.475A>T p.I159L Missense 5/63 - 1
11-108106541-T-A c.476T>A p.I159K Missense 5/63 - 2
11-108106539-AAT-A c.477_478del p.Q161Afs*23 Frameshift 5/63 - 1
11-108106542-A-G c.477A>G p.I159M Missense 5/63 - 1
11-108106542-TA-T c.477del p.S160Lfs*6 Frameshift 5/63 - 1
11-108106541-TATCTC-T c.478_482del p.S160Afs*23 Frameshift 5/63 - 12
11-108106543-T-C c.478T>C p.S160P Missense 5/63 - 3
11-108106543-TC-AA c.478_479delinsAA p.S160N Missense 5/63 - 1
11-108106543-TC-CG c.478_479delinsCG p.S160R Missense 5/63 - 1
11-108106543-T-G c.478T>G p.S160A Missense 5/63 - 4
11-108106544-C-G c.479C>G p.S160C Missense 5/63 - 1
11-108106544-C-T c.479C>T p.S160F Missense 5/63 - 3
11-108106544-TC-T c.479del p.S160Ffs*6 Frameshift 5/63 - 1
11-108106543-TCTCAG-T c.480_484del p.Q161Tfs*22 Frameshift 5/63 - 2
11-108106546-C-G c.481C>G p.Q161E Missense 5/63 - 1
11-108106546-C-T c.481C>T p.Q161* Nonsense 5/63 - 3
11-108106547-A-C c.482A>C p.Q161P Missense 5/63 - 4
11-108106547-A-G c.482A>G p.Q161R Missense 5/63 - 1
11-108106548-G-A c.483G>A p.Q161= Synonymous 5/63 - 4
11-108106548-G-C c.483G>C p.Q161H Missense 5/63 - 2
11-108106549-C-A c.484C>A p.Q162K Missense 5/63 - 1
11-108106549-C-T c.484C>T p.Q162* Nonsense 5/63 - 5
11-108106550-A-G c.485A>G p.Q162R Missense 5/63 - 2
11-108106551-A-G c.486A>G p.Q162= Synonymous 5/63 - 1
11-108106552-C-A c.487C>A p.Q163K Missense 5/63 - 2
11-108106552-C-T c.487C>T p.Q163* Nonsense 5/63 - 4
11-108106553-A-C c.488A>C p.Q163P Missense 5/63 - 1
11-108106553-A-G c.488A>G p.Q163R Missense 5/63 - 2
11-108106553-A-T c.488A>T p.Q163L Missense 5/63 - 1
11-108106553-CAG-C c.488_489del p.Q163Lfs*21 Frameshift 5/63 - 1
11-108106554-G-A c.489G>A p.Q163= Synonymous 5/63 - 1
11-108106554-G-C c.489G>C p.Q163H Missense 5/63 - 1
11-108106554-G-T c.489G>T p.Q163H Missense 5/63 - 2
11-108106555-T-C c.490T>C p.W164R Missense 5/63 - 2
11-108106555-T-G c.490T>G p.W164G Missense 5/63 - 1
11-108106555-TG-GC c.490_491delinsGC p.W164A Missense 5/63 - 2
11-108106555-TGG-CAT c.490_492delinsCAT p.W164H Missense 5/63 - 2
11-108106556-G-A c.491G>A p.W164* Nonsense 5/63 - 5
11-108106556-G-C c.491G>C p.W164S Missense 5/63 - 2
11-108106556-GG-AT c.491_492delinsAT p.W164Y Missense 5/63 - 2
11-108106556-G-T c.491G>T p.W164L Missense 5/63 - 1
11-108106557-G-A c.492G>A p.W164* Nonsense 5/63 - 6
11-108106555-T-TG c.492dup p.L165Vfs*20 Frameshift 5/63 - 2
11-108106556-G-GGGTTA c.492_493insGTTAG p.L165Vfs*3 Frameshift 5/63 - 1
11-108106557-G-T c.492G>T p.W164C Missense 5/63 - 4
11-108106558-T-A c.493T>A p.L165I Missense 5/63 - 1
11-108106558-T-C c.493T>C p.L165= Synonymous 5/63 - 1
11-108106558-TTA-AAC c.493_495delinsAAC p.L165N Missense 5/63 - 2
11-108106558-TT-AG c.493_494delinsAG p.L165R Missense 5/63 - 1
11-108106558-TT-CC c.493_494delinsCC p.L165P Missense 5/63 - 1
11-108106560-A-G c.495A>G p.L165= Synonymous 5/63 - 1
11-108106557-G-GT c.494dup p.L165Ffs*20 Frameshift 5/63 - 1
11-108106559-T-A c.494T>A p.L165* Nonsense 5/63 - 1
11-108106559-T-G c.494T>G p.L165* Nonsense 5/63 - 3
11-108106555-TGGTTAGGTATGTTTTGAA-T c.495_496+16del - SpliceDonorDeletion 5/63 5/62 1
11-108106559-T-TA c.495dup p.E166Rfs*19 SpliceDonorInsertion 5/63 - 2
11-108106560-A-AC c.495_496insC p.E166Rfs*19 SpliceDonorInsertion 5/63 - 2
11-108106560-A-AT c.495_496insT p.E166* SpliceDonorInsertion 5/63 - 2
11-108106560-A-C c.495A>C p.L165F Missense 5/63 - 1
11-108106560-TA-T c.495del p.E166Nfs*11 Frameshift 5/63 - 1
11-108106561-G-A c.496G>A p.E166K Missense 5/63 - 7
11-108106561-G-C c.496G>C p.E166Q Missense 5/63 - 4
11-108106561-G-T c.496G>T p.E166* Nonsense 5/63 - 7
11-108106562-G-A c.496+1G>A - IntronicSNV - 5/62 1
11-108106562-G-C c.496+1G>C - IntronicSNV - 5/62 1
11-108106564-A-G c.496+3A>G - IntronicSNV - 5/62 1
11-108106565-T-C c.496+4T>C - IntronicSNV - 5/62 3
11-108106566-G-A c.496+5G>A - IntronicSNV - 5/62 9
11-108106616-C-A c.496+55C>A - IntronicSNV - 5/62 1
11-108106635-G-A c.496+74G>A - IntronicSNV - 5/62 1
11-108106635-G-T c.496+74G>T - IntronicSNV - 5/62 1
11-108106782-C-A c.496+221C>A - IntronicSNV - 5/62 5
11-108106782-C-T c.496+221C>T - IntronicSNV - 5/62 7
11-108107009-G-A c.496+448G>A - IntronicSNV - 5/62 4
11-108107009-G-T c.496+448G>T - IntronicSNV - 5/62 3
11-108107497-T-G c.496+936T>G - IntronicSNV - 5/62 2
11-108107577-T-A c.496+1016T>A - IntronicSNV - 5/62 1
11-108107577-T-C c.496+1016T>C - IntronicSNV - 5/62 1
11-108107660-G-A c.496+1099G>A - IntronicSNV - 5/62 6
11-108107660-G-C c.496+1099G>C - IntronicSNV - 5/62 6
11-108107682-G-A c.496+1121G>A - IntronicSNV - 5/62 1
11-108107924-G-A c.496+1363G>A - IntronicSNV - 5/62 1
11-108108856-G-A c.496+2295G>A - IntronicSNV - 5/62 1
11-108109450-ATT-A c.496+2897_496+2898del - IntronicDeletion - 5/62 1
11-108112978-G-T c.497-1702G>T - IntronicSNV - 5/62 2
11-108113331-C-A c.497-1349C>A - IntronicSNV - 5/62 2
11-108113331-C-G c.497-1349C>G - IntronicSNV - 5/62 2
11-108113564-A-G c.497-1116A>G - IntronicSNV - 5/62 1
11-108114632-T-G c.497-48T>G - IntronicSNV - 5/62 4
11-108114634-T-C c.497-46T>C - IntronicSNV - 5/62 1
11-108114666-T-A c.497-14T>A - IntronicSNV - 5/62 1
11-108114679-G-A c.497-1G>A - IntronicSNV - 5/62 1
11-108114679-G-C c.497-1G>C - IntronicSNV - 5/62 1
11-108114680-A-C c.497A>C p.E166A Missense 6/63 - 2
11-108114680-A-T c.497A>T p.E166V Missense 6/63 - 2
11-108114679-GA-G c.498del p.E166Dfs*11 Frameshift 6/63 - 2
11-108114681-A-C c.498A>C p.E166D Missense 6/63 - 1
11-108114681-A-T c.498A>T p.E166D Missense 6/63 - 1
11-108114682-T-A c.499T>A p.L167M Missense 6/63 - 1
11-108114682-T-C c.499T>C p.L167= Synonymous 6/63 - 2
11-108114682-T-G c.499T>G p.L167V Missense 6/63 - 1
11-108114682-TT-AG c.499_500delinsAG p.L167R Missense 6/63 - 1
11-108114682-TTG-ATC c.499_501delinsATC p.L167I Missense 6/63 - 1
11-108114684-G-A c.501G>A p.L167= Synonymous 6/63 - 2
11-108114683-T-A c.500T>A p.L167* Nonsense 6/63 - 1
11-108114683-T-C c.500T>C p.L167S Missense 6/63 - 1
11-108114683-T-G c.500T>G p.L167W Missense 6/63 - 1
11-108114681-ATTG-A c.501_503del p.L167del InFrameDeletion 6/63 - 1
11-108114684-G-C c.501G>C p.L167F Missense 6/63 - 2
11-108114684-G-T c.501G>T p.L167F Missense 6/63 - 7
11-108114684-G-GTGGT c.502_503insGGTT p.F168Wfs*18 Frameshift 6/63 - 1
11-108114685-T-C c.502T>C p.F168L Missense 6/63 - 4
11-108114687-C-A c.504C>A p.F168L Missense 6/63 - 3
11-108114686-T-G c.503T>G p.F168C Missense 6/63 - 1
11-108114687-C-G c.504C>G p.F168L Missense 6/63 - 5
11-108114687-C-T c.504C>T p.F168= Synonymous 6/63 - 1
11-108114688-T-C c.505T>C p.S169P Missense 6/63 - 2
11-108114688-TC-AA c.505_506delinsAA p.S169N Missense 6/63 - 1
11-108114688-TC-CT c.505_506delinsCT p.S169L Missense 6/63 - 1
11-108114688-TCT-GAG c.505_507delinsGAG p.S169E Missense 6/63 - 1
11-108114688-T-G c.505T>G p.S169A Missense 6/63 - 2
11-108114685-TTC-T c.506_507del p.S169Cfs*15 Frameshift 6/63 - 1
11-108114689-C-G c.506C>G p.S169C Missense 6/63 - 3
11-108114689-C-T c.506C>T p.S169F Missense 6/63 - 3
11-108114689-TCTGTGTACTTCA-T c.506_517del p.S169_R173delinsW MultiAAMissense 6/63 - 1
11-108114690-CT-C c.507del p.V170Cfs*7 Frameshift 6/63 - 2
11-108114690-T-A c.507T>A p.S169= Synonymous 6/63 - 1
11-108114690-T-C c.507T>C p.S169= Synonymous 6/63 - 1
11-108114691-G-T c.508G>T p.V170L Missense 6/63 - 1
11-108114691-GTG-ATC c.508_510delinsATC p.V170I Missense 6/63 - 1
11-108114689-CTG-C c.510_511del p.Y171Lfs*13 Frameshift 6/63 - 3
11-108114693-G-A c.510G>A p.V170= Synonymous 6/63 - 1
11-108114693-TG-T c.510del p.Y171Tfs*6 Frameshift 6/63 - 1
11-108114691-GTGTACTTCAGGCTCTATC-G c.511_528del p.Y171_L176del InFrameDeletion 6/63 - 2
11-108114695-A-G c.512A>G p.Y171C Missense 6/63 - 6
11-108114695-TAC-T c.512_513del p.Y171Ffs*13 Frameshift 6/63 - 1
11-108114696-C-A c.513C>A p.Y171* Nonsense 6/63 - 5
11-108114696-C-G c.513C>G p.Y171* Nonsense 6/63 - 8
11-108114696-C-T c.513C>T p.Y171= Synonymous 6/63 - 6
11-108114697-T-A c.514T>A p.F172I Missense 6/63 - 2
11-108114697-T-C c.514T>C p.F172L Missense 6/63 - 1
11-108114698-T-TC c.516dup p.R173Qfs*12 Frameshift 6/63 - 1
11-108114700-AGG-CAT c.517_519delinsCAT p.R173H Missense 6/63 - 4
11-108114700-AGG-TGT c.517_519delinsTGT p.R173C Missense 6/63 - 1
11-108114701-G-A c.518G>A p.R173K Missense 6/63 - 5
11-108114701-G-T c.518G>T p.R173M Missense 6/63 - 1
11-108114700-AG-A c.519del p.R173Sfs*4 Frameshift 6/63 - 1
11-108114702-G-T c.519G>T p.R173S Missense 6/63 - 2
11-108114703-C-A c.520C>A p.L174I Missense 6/63 - 1
11-108114703-C-T c.520C>T p.L174F Missense 6/63 - 2
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 - 2
11-108114704-T-A c.521T>A p.L174H Missense 6/63 - 1
11-108114704-T-C c.521T>C p.L174P Missense 6/63 - 2
11-108114704-T-G c.521T>G p.L174R Missense 6/63 - 5
11-108114706-TA-CG c.523_524delinsCG p.Y175R Missense 6/63 - 1
11-108114706-T-C c.523T>C p.Y175H Missense 6/63 - 1
11-108114707-A-G c.524A>G p.Y175C Missense 6/63 - 1
11-108114708-T-C c.525T>C p.Y175= Synonymous 6/63 - 1
11-108114709-C-G c.526C>G p.L176V Missense 6/63 - 2
11-108114709-CTG-TGT c.526_528delinsTGT p.L176C Missense 6/63 - 1
11-108114710-T-A c.527T>A p.L176Q Missense 6/63 - 1
11-108114710-T-C c.527T>C p.L176P Missense 6/63 - 1
11-108114710-T-G c.527T>G p.L176R Missense 6/63 - 1
11-108114709-C-T c.526C>T p.L176= Synonymous 6/63 - 1
11-108114711-G-A c.528G>A p.L176= Synonymous 6/63 - 1
11-108114711-G-C c.528G>C p.L176= Synonymous 6/63 - 1
11-108114711-G-T c.528G>T p.L176= Synonymous 6/63 - 1
11-108114711-TG-T c.528del p.K177Nfs*10 Frameshift 6/63 - 1
11-108114713-A-G c.530A>G p.K177R Missense 6/63 - 1
11-108114714-A-C c.531A>C p.K177N Missense 6/63 - 1
11-108114714-A-T c.531A>T p.K177N Missense 6/63 - 1
11-108114715-CC-TG c.532_533delinsTG p.P178C Missense 6/63 - 1
11-108114715-C-T c.532C>T p.P178S Missense 6/63 - 4
11-108114716-C-T c.533C>T p.P178L Missense 6/63 - 3
11-108114718-TCA-AAC c.535_537delinsAAC p.S179N Missense 6/63 - 1
11-108114718-TC-GA c.535_536inv p.S179E Missense 6/63 - 1
11-108114718-T-G c.535T>G p.S179A Missense 6/63 - 1
11-108114718-T-TC c.536dup p.Q180Tfs*5 Frameshift 6/63 - 1
11-108114719-C-A c.536C>A p.S179* Nonsense 6/63 - 1
11-108114719-C-G c.536C>G p.S179* Nonsense 6/63 - 1
11-108114719-C-T c.536C>T p.S179L Missense 6/63 - 2
11-108114721-C-A c.538C>A p.Q180K Missense 6/63 - 3
11-108114721-C-T c.538C>T p.Q180* Nonsense 6/63 - 10
11-108114722-A-G c.539A>G p.Q180R Missense 6/63 - 2
11-108114721-CA-C c.540del p.D181Mfs*6 Frameshift 6/63 - 1
11-108114724-G-A c.541G>A p.D181N Missense 6/63 - 2
11-108114723-AGAT-A c.542_544del p.D181del InFrameDeletion 6/63 - 1
11-108114725-A-C c.542A>C p.D181A Missense 6/63 - 1
11-108114725-A-G c.542A>G p.D181G Missense 6/63 - 3
11-108114726-T-A c.543T>A p.D181E Missense 6/63 - 2
11-108114726-T-G c.543T>G p.D181E Missense 6/63 - 2
11-108114727-G-A c.544G>A p.V182I Missense 6/63 - 3
11-108114727-G-C c.544G>C p.V182L Missense 6/63 - 23
11-108114727-G-T c.544G>T p.V182F Missense 6/63 - 1
11-108114730-CA-GC c.547_548delinsGC p.H183A Missense 6/63 - 1
11-108114730-C-T c.547C>T p.H183Y Missense 6/63 - 3
11-108114731-A-C c.548A>C p.H183P Missense 6/63 - 2
11-108114731-A-G c.548A>G p.H183R Missense 6/63 - 1
11-108114731-A-T c.548A>T p.H183L Missense 6/63 - 1
11-108114730-CAT-C c.549_550del p.H183Qfs*6 Frameshift 6/63 - 3
11-108114733-A-G c.550A>G p.R184G Missense 6/63 - 2
11-108114733-AGA-CAT c.550_552delinsCAT p.R184H Missense 6/63 - 1
11-108114733-AGA-TGG c.550_552delinsTGG p.R184W Missense 6/63 - 2
11-108114733-AG-GC c.550_551delinsGC p.R184A Missense 6/63 - 2
11-108114733-A-T c.550A>T p.R184* Nonsense 6/63 - 1
11-108114734-G-A c.551G>A p.R184K Missense 6/63 - 4
11-108114734-G-C c.551G>C p.R184T Missense 6/63 - 1
11-108114735-A-AT c.552_553insT p.V185Cfs*5 Frameshift 6/63 - 1
11-108114736-AGT-A c.553_554del p.V185Ffs*4 Frameshift 6/63 - 1
11-108114736-G-A c.553G>A p.V185I Missense 6/63 - 3
11-108114736-G-T c.553G>T p.V185F Missense 6/63 - 2
11-108114737-T-C c.554T>C p.V185A Missense 6/63 - 2
11-108114739-T-A c.556T>A p.L186I Missense 6/63 - 3
11-108114739-T-C c.556T>C p.L186= Synonymous 6/63 - 1
11-108114739-TT-CC c.556_557delinsCC p.L186P Missense 6/63 - 1
11-108114740-T-A c.557T>A p.L186* Nonsense 6/63 - 3
11-108114740-T-C c.557T>C p.L186S Missense 6/63 - 1
11-108114740-T-G c.557T>G p.L186* Nonsense 6/63 - 5
11-108114741-A-C c.558A>C p.L186F Missense 6/63 - 1
11-108114742-G-A c.559G>A p.V187M Missense 6/63 - 2
11-108114742-G-T c.559G>T p.V187L Missense 6/63 - 1
11-108114742-GTG-ATC c.559_561delinsATC p.V187I Missense 6/63 - 1
11-108114742-GTG-TTT c.559_561delinsTTT p.V187F Missense 6/63 - 1
11-108114739-TTAGTGGC-T c.560_566del p.V187Efs*2 Frameshift 6/63 - 1
11-108114744-G-A c.561G>A p.V187= Synonymous 6/63 - 1
11-108114745-G-A c.562G>A p.A188T Missense 6/63 - 1
11-108114745-G-T c.562G>T p.A188S Missense 6/63 - 2
11-108114746-C-A c.563C>A p.A188D Missense 6/63 - 1
11-108114746-C-G c.563C>G p.A188G Missense 6/63 - 2
11-108114747-CT-C c.564del p.R189Efs*2 Frameshift 6/63 - 2
11-108114748-A-G c.565A>G p.R189G Missense 6/63 - 1
11-108114748-AGA-CAT c.565_567delinsCAT p.R189H Missense 6/63 - 1
11-108114748-AG-CA c.565_566delinsCA p.R189Q Missense 6/63 - 1
11-108114748-A-T c.565A>T p.R189* Nonsense 6/63 - 1
11-108114749-G-A c.566G>A p.R189K Missense 6/63 - 17
11-108114749-G-C c.566G>C p.R189T Missense 6/63 - 10
11-108114750-A-C c.567A>C p.R189S Missense 6/63 - 1
11-108114751-A-G c.568A>G p.I190V Missense 6/63 - 1
11-108114751-ATA-TGT c.568_570delinsTGT p.I190C Missense 6/63 - 1
11-108114752-T-A c.569T>A p.I190K Missense 6/63 - 5
11-108114752-T-G c.569T>G p.I190R Missense 6/63 - 1
11-108114753-A-C c.570A>C p.I190= Synonymous 6/63 - 1
11-108114754-A-G c.571A>G p.I191V Missense 6/63 - 1
11-108114755-T-A c.572T>A p.I191N Missense 6/63 - 2
11-108114755-T-C c.572T>C p.I191T Missense 6/63 - 3
11-108114754-A-AT c.573dup p.H192Sfs*12 Frameshift 6/63 - 1
11-108114756-T-C c.573T>C p.I191= Synonymous 6/63 - 1
11-108114753-AATTCATGCTGTTACCAAAGGATGCTGTTCTCAGACTGACGG-A c.574_614del p.H192Kfs*48 Frameshift 6/63 - 1
11-108114757-C-A c.574C>A p.H192N Missense 6/63 - 4
11-108114757-C-G c.574C>G p.H192D Missense 6/63 - 3
11-108114757-C-T c.574C>T p.H192Y Missense 6/63 - 2
11-108114758-A-G c.575A>G p.H192R Missense 6/63 - 1
11-108114758-A-T c.575A>T p.H192L Missense 6/63 - 1
11-108114760-G-A c.577G>A p.A193T Missense 6/63 - 3
11-108114760-G-C c.577G>C p.A193P Missense 6/63 - 1
11-108114761-C-G c.578C>G p.A193G Missense 6/63 - 2
11-108114761-C-T c.578C>T p.A193V Missense 6/63 - 1
11-108114763-G-A c.580G>A p.V194I Missense 6/63 - 1
11-108114763-G-T c.580G>T p.V194F Missense 6/63 - 2
11-108114763-GTT-ATG c.580_582delinsATG p.V194M Missense 6/63 - 1
11-108114764-T-C c.581T>C p.V194A Missense 6/63 - 3
11-108114757-CATGCTGTTACCAAAGG-C c.583_598del p.T195Lfs*6 Frameshift 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
11-108114766-AC-TG c.583_584delinsTG p.T195C Missense 6/63 - 2
11-108114766-A-G c.583A>G p.T195A Missense 6/63 - 3
11-108114766-TAC-T c.583_584del p.T195Qfs*8 Frameshift 6/63 - 1
11-108114767-C-T c.584C>T p.T195I Missense 6/63 - 2
11-108114766-AC-A c.585del p.G197Dfs*9 Frameshift 6/63 - 1
11-108114768-C-A c.585C>A p.T195= Synonymous 6/63 - 1
11-108114769-A-G c.586A>G p.K196E Missense 6/63 - 3
11-108114769-A-T c.586A>T p.K196* Nonsense 6/63 - 1
11-108114770-A-C c.587A>C p.K196T Missense 6/63 - 1
11-108114770-A-G c.587A>G p.K196R Missense 6/63 - 1
11-108114768-CA-C c.588del p.G197Dfs*9 Frameshift 6/63 - 3
11-108114772-G-A c.589G>A p.G197R Missense 6/63 - 5
11-108114772-G-C c.589G>C p.G197R Missense 6/63 - 2
11-108114772-GGA-AGC c.589_591delinsAGC p.G197S Missense 6/63 - 1
11-108114772-GG-CA c.589_590delinsCA p.G197Q Missense 6/63 - 1
11-108114773-G-A c.590G>A p.G197E Missense 6/63 - 8
11-108114773-G-C c.590G>C p.G197A Missense 6/63 - 1
11-108114773-G-T c.590G>T p.G197V Missense 6/63 - 1
11-108114774-A-G c.591A>G p.G197= Synonymous 6/63 - 1
11-108114774-A-T c.591A>T p.G197= Synonymous 6/63 - 2
11-108114774-GA-G c.591del p.C198Afs*8 Frameshift 6/63 - 2
11-108114775-T-G c.592T>G p.C198G Missense 6/63 - 1
11-108114775-TG-AC c.592_593delinsAC p.C198T Missense 6/63 - 1
11-108114776-G-GC c.594dup p.C199Lfs*5 Frameshift 6/63 - 1
11-108114777-C-A c.594C>A p.C198* Nonsense 6/63 - 1
11-108114777-C-T c.594C>T p.C198= Synonymous 6/63 - 1
11-108114778-T-A c.595T>A p.C199S Missense 6/63 - 2
11-108114779-G-C c.596G>C p.C199S Missense 6/63 - 1
11-108114779-G-A c.596G>A p.C199Y Missense 6/63 - 3
11-108114780-T-A c.597T>A p.C199* Nonsense 6/63 - 3
11-108114780-T-G c.597T>G p.C199W Missense 6/63 - 1
11-108114781-TC-AT c.598_599delinsAT p.S200I Missense 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
11-108114782-C-T c.599C>T p.S200F Missense 6/63 - 1
11-108114784-C-A c.601C>A p.Q201K Missense 6/63 - 1
11-108114784-C-G c.601C>G p.Q201E Missense 6/63 - 1
11-108114784-C-T c.601C>T p.Q201* Nonsense 6/63 - 10
11-108114783-TCAGA-T c.602_605del p.Q201Lfs*4 Frameshift 6/63 - 1
11-108114785-A-C c.602A>C p.Q201P Missense 6/63 - 1
11-108114785-A-T c.602A>T p.Q201L Missense 6/63 - 1
11-108114787-A-C c.604A>C p.T202P Missense 6/63 - 1
11-108114787-ACT-TAA c.604_606delinsTAA p.T202* Nonsense 6/63 - 1
11-108114787-A-G c.604A>G p.T202A Missense 6/63 - 1
11-108114788-C-G c.605C>G p.T202S Missense 6/63 - 1
11-108114788-C-T c.605C>T p.T202I Missense 6/63 - 4
11-108114785-AGACT-A c.606_609del p.G204* Frameshift 6/63 - 2
11-108114790-G-A c.607G>A p.D203N Missense 6/63 - 2
11-108114790-GA-CG c.607_608delinsCG p.D203R Missense 6/63 - 1
11-108114790-G-C c.607G>C p.D203H Missense 6/63 - 1
11-108114790-G-T c.607G>T p.D203Y Missense 6/63 - 1
11-108114791-A-C c.608A>C p.D203A Missense 6/63 - 2
11-108114791-A-G c.608A>G p.D203G Missense 6/63 - 3
11-108114792-C-A c.609C>A p.D203E Missense 6/63 - 1
11-108114792-C-CTAA c.609_610insTAA p.D203_G204ins* InFrameInsertion 6/63 - 1
11-108114792-C-G c.609C>G p.D203E Missense 6/63 - 1
11-108114792-C-T c.609C>T p.D203= Synonymous 6/63 - 9
11-108114793-G-A c.610G>A p.G204R Missense 6/63 - 18
11-108114793-G-C c.610G>C p.G204R Missense 6/63 - 2
11-108114793-GGA-AGC c.610_612delinsAGC p.G204S Missense 6/63 - 1
11-108114793-G-T c.610G>T p.G204* Nonsense 6/63 - 7
11-108114794-G-C c.611G>C p.G204A Missense 6/63 - 1
11-108114794-G-T c.611G>T p.G204V Missense 6/63 - 1
11-108114796-T-G c.613T>G p.L205V Missense 6/63 - 1
11-108114796-TT-AG c.613_614delinsAG p.L205R Missense 6/63 - 2
11-108114797-T-C c.614T>C p.L205S Missense 6/63 - 1
11-108114798-A-C c.615A>C p.L205F Missense 6/63 - 2
11-108114798-A-T c.615A>T p.L205F Missense 6/63 - 1
11-108114799-A-C c.616A>C p.N206H Missense 6/63 - 5
11-108114799-A-T c.616A>T p.N206Y Missense 6/63 - 1
11-108114800-A-C c.617A>C p.N206T Missense 6/63 - 1
11-108114800-AT-A c.619del p.S207Pfs*23 Frameshift 6/63 - 1
11-108114802-T-C c.619T>C p.S207P Missense 6/63 - 1
11-108114802-TC-AA c.619_620delinsAA p.S207N Missense 6/63 - 2
11-108114802-TC-AT c.619_620delinsAT p.S207I Missense 6/63 - 1
11-108114802-TC-CT c.619_620delinsCT p.S207L Missense 6/63 - 1
11-108114802-T-G c.619T>G p.S207A Missense 6/63 - 2
11-108114803-C-A c.620C>A p.S207Y Missense 6/63 - 1
11-108114803-C-G c.620C>G p.S207C Missense 6/63 - 7
11-108114803-C-T c.620C>T p.S207F Missense 6/63 - 9
11-108114804-C-CT c.621_622insT p.K208* Nonsense 6/63 - 1
11-108114805-A-C c.622A>C p.K208Q Missense 6/63 - 1
11-108114805-A-T c.622A>T p.K208* Nonsense 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 - 2
11-108114808-T-G c.625T>G p.F209V Missense 6/63 - 1
11-108114810-T-A c.627T>A p.F209L Missense 6/63 - 1
11-108114810-T-G c.627T>G p.F209L Missense 6/63 - 1
11-108114809-T-G c.626T>G p.F209C Missense 6/63 - 2
11-108114807-ATT-A c.628_629del p.L210Gfs*43 Frameshift 6/63 - 1
11-108114811-T-C c.628T>C p.L210= Synonymous 6/63 - 1
11-108114811-TTG-ATC c.628_630delinsATC p.L210I Missense 6/63 - 1
11-108114813-G-A c.630G>A p.L210= Synonymous 6/63 - 1
11-108114807-AT-A c.629del p.L210Wfs*20 Frameshift 6/63 - 2
11-108114812-T-G c.629T>G p.L210W Missense 6/63 - 1
11-108114813-G-GT c.630_631insT p.D211* Nonsense 6/63 - 1
11-108114814-G-A c.631G>A p.D211N Missense 6/63 - 2
11-108114814-G-C c.631G>C p.D211H Missense 6/63 - 1
11-108114814-G-T c.631G>T p.D211Y Missense 6/63 - 1
11-108114815-A-T c.632A>T p.D211V Missense 6/63 - 1
11-108114816-C-A c.633C>A p.D211E Missense 6/63 - 4
11-108114816-C-G c.633C>G p.D211E Missense 6/63 - 3
11-108114816-C-T c.633C>T p.D211= Synonymous 6/63 - 1
11-108114817-T-A c.634T>A p.F212I Missense 6/63 - 1
11-108114817-T-C c.634T>C p.F212L Missense 6/63 - 3
11-108114817-T-G c.634T>G p.F212V Missense 6/63 - 1
11-108114819-T-A c.636T>A p.F212L Missense 6/63 - 2
11-108114819-T-G c.636T>G p.F212L Missense 6/63 - 1
11-108114818-T-A c.635T>A p.F212Y Missense 6/63 - 1
11-108114818-T-C c.635T>C p.F212S Missense 6/63 - 2
11-108114820-T-C c.637T>C p.F213L Missense 6/63 - 2
11-108114820-T-G c.637T>G p.F213V Missense 6/63 - 1
11-108114820-TT-GC c.637_638delinsGC p.F213A Missense 6/63 - 1
11-108114822-T-A c.639T>A p.F213L Missense 6/63 - 2
11-108114822-T-G c.639T>G p.F213L Missense 6/63 - 2
11-108114821-T-C c.638T>C p.F213S Missense 6/63 - 5
11-108114822-T-C c.639T>C p.F213= Synonymous 6/63 - 1
11-108114816-C-CT c.640dup p.S214Ffs*40 Frameshift 6/63 - 4
11-108114816-CT-C c.640del p.S214Pfs*16 Frameshift 6/63 - 19
11-108114823-T-C c.640T>C p.S214P Missense 6/63 - 5
11-108114823-TCC-GAG c.640_642delinsGAG p.S214E Missense 6/63 - 2
11-108114823-TC-CT c.640_641delinsCT p.S214L Missense 6/63 - 1
11-108114823-TC-GA c.640_641inv p.S214D Missense 6/63 - 1
11-108114823-TC-GG c.640_641delinsGG p.S214G Missense 6/63 - 1
11-108114823-T-G c.640T>G p.S214A Missense 6/63 - 2
11-108114824-C-T c.641C>T p.S214F Missense 6/63 - 2
11-108114823-TC-T c.642del p.K215Rfs*15 Frameshift 6/63 - 2
11-108114823-T-TC c.642dup p.K215Qfs*39 Frameshift 6/63 - 1
11-108114826-A-C c.643A>C p.K215Q Missense 6/63 - 1
11-108114827-A-C c.644A>C p.K215T Missense 6/63 - 1
11-108114827-A-G c.644A>G p.K215R Missense 6/63 - 3
11-108114828-G-T c.645G>T p.K215N Missense 6/63 - 1
11-108114829-G-A c.646G>A p.A216T Missense 6/63 - 1
11-108114829-G-T c.646G>T p.A216S Missense 6/63 - 7
11-108114830-C-T c.647C>T p.A216V Missense 6/63 - 1
11-108114830-CT-AG c.647_648inv p.A216E Missense 6/63 - 1
11-108114832-A-G c.649A>G p.I217V Missense 6/63 - 3
11-108114832-A-T c.649A>T p.I217F Missense 6/63 - 2
11-108114832-AT-GC c.649_650delinsGC p.I217A Missense 6/63 - 1
11-108114833-T-C c.650T>C p.I217T Missense 6/63 - 1
11-108114833-T-G c.650T>G p.I217S Missense 6/63 - 1
11-108114832-AT-A c.651del p.Q218Sfs*12 Frameshift 6/63 - 1
11-108114834-T-G c.651T>G p.I217M Missense 6/63 - 1
11-108114834-T-TATC c.651_652insATC p.I217dup InFrameInsertion 6/63 - 1
11-108114835-C-A c.652C>A p.Q218K Missense 6/63 - 1
11-108114835-C-T c.652C>T p.Q218* Nonsense 6/63 - 14
11-108114836-A-C c.653A>C p.Q218P Missense 6/63 - 1
11-108114836-A-G c.653A>G p.Q218R Missense 6/63 - 3
11-108114837-G-A c.654G>A p.Q218= Synonymous 6/63 - 1
11-108114837-G-T c.654G>T p.Q218H Missense 6/63 - 3
11-108114838-T-A c.655T>A p.C219S Missense 6/63 - 3
11-108114838-T-C c.655T>C p.C219R Missense 6/63 - 3
11-108114838-TG-GA c.655_656delinsGA p.C219D Missense 6/63 - 1
11-108114839-G-C c.656G>C p.C219S Missense 6/63 - 3
11-108114839-G-A c.656G>A p.C219Y Missense 6/63 - 1
11-108114840-GT-G c.657del p.C219Wfs*11 Frameshift 6/63 - 1
11-108114840-T-A c.657T>A p.C219* Nonsense 6/63 - 1
11-108114840-T-C c.657T>C p.C219= Synonymous 6/63 - 8
11-108114841-G-A c.658G>A p.A220T Missense 6/63 - 1
11-108114841-G-T c.658G>T p.A220S Missense 6/63 - 1
11-108114841-TGCGAGGTAATCTAATCTCTTTTTCTTTTGTTTTGTATTGAAATACTTTTGATCTTGCAA-T c.659_662+55del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/63 6/62 1
11-108114842-C-A c.659C>A p.A220E Missense 6/63 - 1
11-108114842-C-T c.659C>T p.A220V Missense 6/63 - 18
11-108114843-CGAGGTAATCTAATCTCTTTTTCTTTTGTTTTGTATTGAAATACTTTTGATCTTGCAAGA-C c.660_662+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/63 6/62 1
11-108114843-G-C c.660G>C p.A220= Synonymous 6/63 - 2
11-108114844-A-G c.661A>G p.R221G Missense 6/63 - 3
11-108114844-A-T c.661A>T p.R221* Nonsense 6/63 - 1
11-108114844-GA-G c.661del p.R221Dfs*9 Frameshift 6/63 - 1
11-108114845-G-A c.662G>A p.R221K Missense 6/63 - 3
11-108114845-G-C c.662G>C p.R221T Missense 6/63 - 2
11-108114845-G-T c.662G>T p.R221I Missense 6/63 - 2
11-108114846-G-A c.662+1G>A - IntronicSNV - 6/62 2
11-108114847-T-C c.662+2T>C - IntronicSNV - 6/62 1
11-108114859-T-A c.662+14T>A - IntronicSNV - 6/62 1
11-108114883-T-C c.662+38T>C - IntronicSNV - 6/62 2
11-108114887-T-A c.662+42T>A - IntronicSNV - 6/62 1
11-108114902-C-A c.662+57C>A - IntronicSNV - 6/62 1
11-108115419-G-A c.663-96G>A - IntronicSNV - 6/62 1
11-108115478-C-G c.663-37C>G - IntronicSNV - 6/62 1
11-108115478-C-T c.663-37C>T - IntronicSNV - 6/62 1
11-108115514-G-GA c.663dup p.Q222Tfs*32 SpliceAcceptorInsertion 7/63 - 1
11-108115515-A-AG c.663_664insG p.Q222Afs*32 SpliceAcceptorInsertion 7/63 - 1
11-108115515-A-AT c.663_664insT p.Q222Sfs*32 SpliceAcceptorInsertion 7/63 - 1
11-108115515-A-T c.663A>T p.R221S Missense 7/63 - 1
11-108115515-GACAAGAAAAGAGCTCTTCAGGTCTAAATCATATCTTAGCAGCTCTTACTATCTTCCTCA-G c.664_722del p.Q222Dfs*12 Unclassified 7/63 - 1
11-108115515-A-AC c.664dup p.Q222Pfs*32 SpliceAcceptorInsertion 7/63 - 1
11-108115516-C-T c.664C>T p.Q222* Nonsense 7/63 - 3
11-108115517-A-C c.665A>C p.Q222P Missense 7/63 - 2
11-108115517-A-G c.665A>G p.Q222R Missense 7/63 - 2
11-108115518-A-G c.666A>G p.Q222= Synonymous 7/63 - 1
11-108115516-CAAG-C c.667_669del p.E223del InFrameDeletion 7/63 - 1
11-108115519-G-A c.667G>A p.E223K Missense 7/63 - 3
11-108115520-A-G c.668A>G p.E223G Missense 7/63 - 2
11-108115522-A-G c.670A>G p.K224E Missense 7/63 - 26
11-108115522-A-T c.670A>T p.K224* Nonsense 7/63 - 1
11-108115519-GA-G c.671del p.K224Rfs*6 Frameshift 7/63 - 1
11-108115524-G-C c.672G>C p.K224N Missense 7/63 - 4
11-108115524-G-T c.672G>T p.K224N Missense 7/63 - 2
11-108115525-AG-CC c.673_674delinsCC p.S225P Missense 7/63 - 1
11-108115525-AGC-TGA c.673_675delinsTGA p.S225* Nonsense 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 - 3
11-108115527-C-G c.675C>G p.S225R Missense 7/63 - 1
11-108115528-T-C c.676T>C p.S226P Missense 7/63 - 2
11-108115528-TC-GG c.676_677delinsGG p.S226G Missense 7/63 - 1
11-108115528-T-G c.676T>G p.S226A Missense 7/63 - 1
11-108115529-C-T c.677C>T p.S226F Missense 7/63 - 2
11-108115530-T-A c.678T>A p.S226= Synonymous 7/63 - 2
11-108115530-T-C c.678T>C p.S226= Synonymous 7/63 - 2
11-108115530-T-G c.678T>G p.S226= Synonymous 7/63 - 2
11-108115531-TC-AT c.679_680delinsAT p.S227I Missense 7/63 - 1
11-108115532-C-A c.680C>A p.S227* Nonsense 7/63 - 2
11-108115532-CA-TT c.680_681delinsTT p.S227F Missense 7/63 - 1
11-108115532-C-G c.680C>G p.S227* Nonsense 7/63 - 3
11-108115532-C-T c.680C>T p.S227L Missense 7/63 - 5
11-108115532-TC-T c.680del p.S227* Frameshift 7/63 - 1
11-108115532-C-CA c.681dup p.G228Rfs*26 Frameshift 7/63 - 3
11-108115534-G-A c.682G>A p.G228S Missense 7/63 - 1
11-108115534-G-GGAGCCAT c.683_684insAGCCATG p.L229Afs*27 Frameshift 7/63 - 1
11-108115535-G-C c.683G>C p.G228A Missense 7/63 - 1
11-108115537-C-G c.685C>G p.L229V Missense 7/63 - 1
11-108115537-C-T c.685C>T p.L229= Synonymous 7/63 - 2
11-108115537-CT-TA c.685_686delinsTA p.L229* Nonsense 7/63 - 1
11-108115538-T-C c.686T>C p.L229P Missense 7/63 - 2
11-108115539-A-C c.687A>C p.L229= Synonymous 7/63 - 1
11-108115539-A-G c.687A>G p.L229= Synonymous 7/63 - 1
11-108115539-A-T c.687A>T p.L229= Synonymous 7/63 - 1
11-108115540-A-C c.688A>C p.N230H Missense 7/63 - 1
11-108115538-TA-T c.689del p.N230Ifs*4 Frameshift 7/63 - 4
11-108115541-A-C c.689A>C p.N230T Missense 7/63 - 4
11-108115541-A-G c.689A>G p.N230S Missense 7/63 - 2
11-108115541-A-T c.689A>T p.N230I Missense 7/63 - 1
11-108115541-ATCATATCTTAGCAGCTCT-A c.691_708del p.H231_L236del InFrameDeletion 7/63 - 1
11-108115543-C-G c.691C>G p.H231D Missense 7/63 - 3
11-108115543-TC-T c.691del p.H231Ifs*3 Frameshift 7/63 - 1
11-108115544-A-C c.692A>C p.H231P Missense 7/63 - 1
11-108115544-A-G c.692A>G p.H231R Missense 7/63 - 5
11-108115546-A-G c.694A>G p.I232V Missense 7/63 - 1
11-108115546-A-T c.694A>T p.I232F Missense 7/63 - 1
11-108115547-T-C c.695T>C p.I232T Missense 7/63 - 2
11-108115547-TC-GG c.695_696delinsGG p.I232R Missense 7/63 - 1
11-108115547-T-G c.695T>G p.I232S Missense 7/63 - 1
11-108115548-C-G c.696C>G p.I232M Missense 7/63 - 1
11-108115549-T-G c.697T>G p.L233V Missense 7/63 - 1
11-108115549-TT-AG c.697_698delinsAG p.L233R Missense 7/63 - 1
11-108115548-CT-C c.698del p.L233* Frameshift 7/63 - 1
11-108115550-T-A c.698T>A p.L233* Nonsense 7/63 - 1
11-108115551-A-C c.699A>C p.L233F Missense 7/63 - 1
11-108115551-A-T c.699A>T p.L233F Missense 7/63 - 1
11-108115552-G-A c.700G>A p.A234T Missense 7/63 - 2
11-108115552-G-T c.700G>T p.A234S Missense 7/63 - 2
11-108115553-C-G c.701C>G p.A234G Missense 7/63 - 3
11-108115553-C-T c.701C>T p.A234V Missense 7/63 - 1
11-108115554-A-C c.702A>C p.A234= Synonymous 7/63 - 2
11-108115555-G-A c.703G>A p.A235T Missense 7/63 - 4
11-108115556-C-A c.704C>A p.A235D Missense 7/63 - 1
11-108115558-C-A c.706C>A p.L236I Missense 7/63 - 1
11-108115558-C-G c.706C>G p.L236V Missense 7/63 - 1
11-108115559-T-C c.707T>C p.L236P Missense 7/63 - 4
11-108115559-T-G c.707T>G p.L236R Missense 7/63 - 3
11-108115558-CT-C c.708del p.T237Lfs*18 Frameshift 7/63 - 2
11-108115560-T-A c.708T>A p.L236= Synonymous 7/63 - 1
11-108115560-T-C c.708T>C p.L236= Synonymous 7/63 - 1
11-108115560-T-G c.708T>G p.L236= Synonymous 7/63 - 1
11-108115560-T-TA c.709dup p.T237Nfs*17 Frameshift 7/63 - 4
11-108115561-A-G c.709A>G p.T237A Missense 7/63 - 5
11-108115562-AC-A c.710del p.T237Ifs*18 Frameshift 7/63 - 2
11-108115562-C-T c.710C>T p.T237I Missense 7/63 - 3
11-108115563-T-A c.711T>A p.T237= Synonymous 7/63 - 1
11-108115563-T-C c.711T>C p.T237= Synonymous 7/63 - 1
11-108115563-T-G c.711T>G p.T237= Synonymous 7/63 - 1
11-108115564-A-G c.712A>G p.I238V Missense 7/63 - 11
11-108115564-A-T c.712A>T p.I238F 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 - 2
11-108115566-C-A c.714C>A p.I238= Synonymous 7/63 - 1
11-108115566-C-T c.714C>T p.I238= Synonymous 7/63 - 1
11-108115566-CT-C c.716del p.F239Sfs*16 Frameshift 7/63 - 2
11-108115568-T-C c.716T>C p.F239S Missense 7/63 - 1
11-108115569-TCCTC-T c.717_720del p.F239Lfs*15 Frameshift 7/63 - 7
11-108115568-T-TC c.718dup p.L240Pfs*14 Frameshift 7/63 - 1
11-108115570-C-T c.718C>T p.L240F Missense 7/63 - 2
11-108115571-T-C c.719T>C p.L240P Missense 7/63 - 1
11-108115571-T-G c.719T>G p.L240R Missense 7/63 - 1
11-108115572-C-G c.720C>G p.L240= Synonymous 7/63 - 1
11-108115573-A-G c.721A>G p.K241E Missense 7/63 - 1
11-108115572-CA-C c.722del p.K241Rfs*14 Frameshift 7/63 - 1
11-108115572-C-CA c.722dup p.T242Dfs*12 Frameshift 7/63 - 1
11-108115574-A-C c.722A>C p.K241T Missense 7/63 - 1
11-108115574-A-G c.722A>G p.K241R Missense 7/63 - 2
11-108115574-AG-TC c.722_723delinsTC p.K241I Missense 7/63 - 1
11-108115575-G-C c.723G>C p.K241N Missense 7/63 - 1
11-108115575-G-T c.723G>T p.K241N Missense 7/63 - 1
11-108115576-A-G c.724A>G p.T242A Missense 7/63 - 2
11-108115577-C-A c.725C>A p.T242N Missense 7/63 - 1
11-108115577-C-T c.725C>T p.T242I 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 - 17
11-108115580-T-G c.728T>G p.L243W Missense 7/63 - 1
11-108115583-C-T c.731C>T p.A244V Missense 7/63 - 10
11-108115585-G-A c.733G>A p.V245I Missense 7/63 - 5
11-108115586-T-C c.734T>C p.V245A Missense 7/63 - 5
11-108115586-T-G c.734T>G p.V245G Missense 7/63 - 2
11-108115587-C-A c.735C>A p.V245= Synonymous 7/63 - 2
11-108115587-C-G c.735C>G p.V245= Synonymous 7/63 - 8
11-108115587-C-T c.735C>T p.V245= Synonymous 7/63 - 14
11-108115588-AA-GC c.736_737delinsGC p.N246A Missense 7/63 - 1
11-108115588-A-G c.736A>G p.N246D Missense 7/63 - 1
11-108115589-AACTTTC-A c.737_742del p.N246_F247del InFrameDeletion 7/63 - 1
11-108115589-A-G c.737A>G p.N246S Missense 7/63 - 5
11-108115590-C-A c.738C>A p.N246K Missense 7/63 - 1
11-108115590-C-G c.738C>G p.N246K Missense 7/63 - 1
11-108115591-T-C c.739T>C p.F247L Missense 7/63 - 1
11-108115593-T-A c.741T>A p.F247L Missense 7/63 - 1
11-108115593-T-G c.741T>G p.F247L Missense 7/63 - 1
11-108115592-T-A c.740T>A p.F247Y Missense 7/63 - 1
11-108115590-C-CT c.741dup p.R248Sfs*6 Frameshift 7/63 - 3
11-108115590-CT-C c.741del p.R248Efs*7 Frameshift 7/63 - 1
11-108115593-T-C c.741T>C p.F247= Synonymous 7/63 - 1
11-108115594-C-A c.742C>A p.R248= Synonymous 7/63 - 1
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 - 2
11-108115594-CGA-TGG c.742_744delinsTGG p.R248W Missense 7/63 - 12
11-108115594-CGA-TGT c.742_744delinsTGT p.R248C Missense 7/63 - 2
11-108115594-CG-GA c.742_743delinsGA p.R248E Missense 7/63 - 1
11-108115594-C-T c.742C>T p.R248* Nonsense 7/63 - 47
11-108115595-G-A c.743G>A p.R248Q Missense 7/63 - 37
11-108115595-GA-AT c.743_744delinsAT p.R248H Missense 7/63 - 1
11-108115595-G-C c.743G>C p.R248P Missense 7/63 - 1
11-108115595-G-T c.743G>T p.R248L Missense 7/63 - 5
11-108115595-G-GA c.745dup p.I249Nfs*5 Frameshift 7/63 - 1
11-108115597-AATT-A c.745_747del p.I249del InFrameDeletion 7/63 - 1
11-108115597-A-G c.745A>G p.I249V Missense 7/63 - 3
11-108115599-T-A c.747T>A p.I249= Synonymous 7/63 - 1
11-108115600-C-G c.748C>G p.R250G Missense 7/63 - 2
11-108115600-CGA-AGC c.748_750delinsAGC p.R250S Missense 7/63 - 1
11-108115600-CGA-TGG c.748_750delinsTGG p.R250W Missense 7/63 - 2
11-108115600-CGA-TGT c.748_750delinsTGT p.R250C Missense 7/63 - 1
11-108115600-C-T c.748C>T p.R250* Nonsense 7/63 - 60
11-108115600-TCG-T c.748_749del p.R250Sfs*3 Frameshift 7/63 - 1
11-108115601-G-A c.749G>A p.R250Q Missense 7/63 - 23
11-108115601-GA-AT c.749_750delinsAT p.R250H Missense 7/63 - 1
11-108115601-G-C c.749G>C p.R250P Missense 7/63 - 6
11-108115601-G-T c.749G>T p.R250L Missense 7/63 - 1
11-108115603-G-A c.751G>A p.V251M Missense 7/63 - 1
11-108115604-T-A c.752T>A p.V251E Missense 7/63 - 1
11-108115605-G-A c.753G>A p.V251= Synonymous 7/63 - 1
11-108115605-G-GCC c.753_754insCC p.C252Pfs*4 Frameshift 7/63 - 1
11-108115605-TG-T c.753del p.C252Vfs*3 Frameshift 7/63 - 1
11-108115606-T-A c.754T>A p.C252S Missense 7/63 - 2
11-108115607-G-C c.755G>C p.C252S Missense 7/63 - 1
11-108115607-G-A c.755G>A p.C252Y Missense 7/63 - 1
11-108115607-G-T c.755G>T p.C252F Missense 7/63 - 1
11-108115607-TGTGA-T c.755_758del p.C252Yfs*2 Frameshift 7/63 - 1
11-108115607-TGTG-T c.755_757del p.C252_E253delins* MultiAAMissense 7/63 - 1
11-108115602-AGT-A c.756_757del p.C252* Frameshift 7/63 - 4
11-108115608-T-C c.756T>C p.C252= Synonymous 7/63 - 1
11-108115609-G-A c.757G>A p.E253K Missense 7/63 - 2
11-108115609-G-T c.757G>T p.E253* Nonsense 7/63 - 2
11-108115610-A-G c.758A>G p.E253G Missense 7/63 - 1
11-108115609-G-GA c.759dup p.L254Ifs*4 Frameshift 7/63 - 1
11-108115611-A-C c.759A>C p.E253D Missense 7/63 - 1
11-108115611-A-T c.759A>T p.E253D Missense 7/63 - 1
11-108115612-T-A c.760T>A p.L254I Missense 7/63 - 1
11-108115612-TT-CC c.760_761delinsCC p.L254P Missense 7/63 - 3
11-108115613-T-C c.761T>C p.L254S Missense 7/63 - 1
11-108115614-A-G c.762A>G p.L254= Synonymous 7/63 - 1
11-108115614-A-T c.762A>T p.L254F Missense 7/63 - 1
11-108115615-G-A c.763G>A p.G255R Missense 7/63 - 2
11-108115615-G-C c.763G>C p.G255R Missense 7/63 - 2
11-108115615-GGA-TGG c.763_765delinsTGG p.G255W Missense 7/63 - 1
11-108115616-G-C c.764G>C p.G255A Missense 7/63 - 1
11-108115618-G-A c.766G>A p.D256N Missense 7/63 - 2
11-108115618-G-C c.766G>C p.D256H Missense 7/63 - 4
11-108115619-A-C c.767A>C p.D256A Missense 7/63 - 1
11-108115619-A-G c.767A>G p.D256G Missense 7/63 - 1
11-108115619-A-T c.767A>T p.D256V Missense 7/63 - 1
11-108115621-G-A c.769G>A p.E257K Missense 7/63 - 3
11-108115621-G-C c.769G>C p.E257Q Missense 7/63 - 2
11-108115621-G-T c.769G>T p.E257* Nonsense 7/63 - 2
11-108115623-A-C c.771A>C p.E257D Missense 7/63 - 1
11-108115623-A-T c.771A>T p.E257D Missense 7/63 - 1
11-108115624-A-G c.772A>G p.I258V Missense 7/63 - 1
11-108115625-T-A c.773T>A p.I258N Missense 7/63 - 1
11-108115625-T-G c.773T>G p.I258S Missense 7/63 - 1
11-108115627-C-A c.775C>A p.L259I Missense 7/63 - 6
11-108115627-C-G c.775C>G p.L259V Missense 7/63 - 2
11-108115627-C-T c.775C>T p.L259F Missense 7/63 - 8
11-108115627-CTT-TAA c.775_777delinsTAA p.L259* Nonsense 7/63 - 1
11-108115628-T-A c.776T>A p.L259H Missense 7/63 - 1
11-108115628-T-C c.776T>C p.L259P Missense 7/63 - 1
11-108115630-C-A c.778C>A p.P260T Missense 7/63 - 3
11-108115630-C-G c.778C>G p.P260A Missense 7/63 - 1
11-108115630-C-T c.778C>T p.P260S Missense 7/63 - 1
11-108115631-C-A c.779C>A p.P260H Missense 7/63 - 2
11-108115631-C-G c.779C>G p.P260R Missense 7/63 - 1
11-108115631-C-T c.779C>T p.P260L Missense 7/63 - 7
11-108115629-TC-T c.780del p.T261Lfs*15 Frameshift 7/63 - 1
11-108115633-A-G c.781A>G p.T261A Missense 7/63 - 1
11-108115633-A-T c.781A>T p.T261S Missense 7/63 - 1
11-108115634-C-G c.782C>G p.T261S Missense 7/63 - 1
11-108115636-T-C c.784T>C p.L262= Synonymous 7/63 - 1
11-108115638-G-A c.786G>A p.L262= Synonymous 7/63 - 1
11-108115637-T-A c.785T>A p.L262* Nonsense 7/63 - 4
11-108115637-T-C c.785T>C p.L262S Missense 7/63 - 3
11-108115637-T-G c.785T>G p.L262W Missense 7/63 - 2
11-108115639-C-G c.787C>G p.L263V Missense 7/63 - 2
11-108115639-C-T c.787C>T p.L263F Missense 7/63 - 4
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-CTT-GAG c.787_789delinsGAG p.L263E Missense 7/63 - 2
11-108115639-CTT-TAA c.787_789delinsTAA p.L263* Nonsense 7/63 - 2
11-108115639-CT-C c.790del p.Y264Ifs*12 Frameshift 7/63 - 11
11-108115642-TA-AT c.790_791delinsAT p.Y264I Missense 7/63 - 1
11-108115643-A-G c.791A>G p.Y264C Missense 7/63 - 2
11-108115643-A-T c.791A>T p.Y264F Missense 7/63 - 1
11-108115644-AT-A c.792del p.Y264* Frameshift 7/63 - 1
11-108115644-T-A c.792T>A p.Y264* Nonsense 7/63 - 2
11-108115644-T-G c.792T>G p.Y264* Nonsense 7/63 - 1
11-108115645-A-G c.793A>G p.I265V Missense 7/63 - 1
11-108115647-T-A c.795T>A p.I265= Synonymous 7/63 - 1
11-108115646-T-TTTGA c.797_798insATTG p.W266* Nonsense 7/63 - 1
11-108115649-G-A c.797G>A p.W266* Nonsense 7/63 - 3
11-108115649-G-T c.797G>T p.W266L Missense 7/63 - 3
11-108115650-G-A c.798G>A p.W266* Nonsense 7/63 - 4
11-108115651-A-C c.799A>C p.T267P Missense 7/63 - 1
11-108115651-A-G c.799A>G p.T267A Missense 7/63 - 3
11-108115652-C-G c.800C>G p.T267S Missense 7/63 - 1
11-108115652-CT-AG c.800_801inv p.T267K Missense 7/63 - 1
11-108115654-C-G c.802C>G p.Q268E Missense 7/63 - 2
11-108115654-C-T c.802C>T p.Q268* Nonsense 7/63 - 8
11-108115656-A-C c.804A>C p.Q268H Missense 7/63 - 3
11-108115657-AC-A c.805del p.H269Ifs*7 Frameshift 7/63 - 1
11-108115657-CAT-TAA c.805_807delinsTAA p.H269* Nonsense 7/63 - 1
11-108115657-C-G c.805C>G p.H269D Missense 7/63 - 1
11-108115657-C-T c.805C>T p.H269Y Missense 7/63 - 1
11-108115658-A-G c.806A>G p.H269R Missense 7/63 - 3
11-108115658-CA-C c.806del p.H269Lfs*7 Frameshift 7/63 - 1
11-108115660-AG-CT c.808_809inv p.R270L Missense 7/63 - 1
11-108115660-AGG-CAT c.808_810delinsCAT p.R270H Missense 7/63 - 32
11-108115660-AGG-TGT c.808_810delinsTGT p.R270C Missense 7/63 - 1
11-108115660-AG-TA c.808_809delinsTA p.R270* Nonsense 7/63 - 1
11-108115660-A-T c.808A>T p.R270W Missense 7/63 - 1
11-108115661-G-A c.809G>A p.R270K Missense 7/63 - 4
11-108115661-GG-TC c.809_810delinsTC p.R270I Missense 7/63 - 1
11-108115662-G-A c.810G>A p.R270= Synonymous 7/63 - 1
11-108115662-G-T c.810G>T p.R270S Missense 7/63 - 1
11-108115663-C-A c.811C>A p.L271I Missense 7/63 - 7
11-108115663-C-G c.811C>G p.L271V Missense 7/63 - 1
11-108115663-C-T c.811C>T p.L271F Missense 7/63 - 1
11-108115664-T-C c.812T>C p.L271P Missense 7/63 - 1
11-108115664-T-G c.812T>G p.L271R Missense 7/63 - 1
11-108115666-AAT-CAA c.814_816delinsCAA p.N272Q Missense 7/63 - 1
11-108115666-A-C c.814A>C p.N272H Missense 7/63 - 3
11-108115667-A-G c.815A>G p.N272S Missense 7/63 - 2
11-108115667-A-T c.815A>T p.N272I Missense 7/63 - 1
11-108115668-T-A c.816T>A p.N272K Missense 7/63 - 2
11-108115668-T-G c.816T>G p.N272K Missense 7/63 - 1
11-108115669-G-A c.817G>A p.D273N Missense 7/63 - 2
11-108115669-GA-CG c.817_818delinsCG p.D273R Missense 7/63 - 2
11-108115669-G-T c.817G>T p.D273Y Missense 7/63 - 1
11-108115669-TGA-T c.817_818del p.D273Ffs*8 Frameshift 7/63 - 1
11-108115670-A-AC c.818_819insC p.S274Ffs*8 Frameshift 7/63 - 2
11-108115670-A-C c.818A>C p.D273A Missense 7/63 - 1
11-108115670-A-G c.818A>G p.D273G Missense 7/63 - 2
11-108115672-T-A c.820T>A p.S274T Missense 7/63 - 1
11-108115672-T-C c.820T>C p.S274P Missense 7/63 - 1
11-108115672-TC-GG c.820_821delinsGG p.S274G Missense 7/63 - 1
11-108115672-T-G c.820T>G p.S274A Missense 7/63 - 3
11-108115672-T-TA c.820_821insA p.S274Yfs*8 Frameshift 7/63 - 1
11-108115673-C-A c.821C>A p.S274Y Missense 7/63 - 5
11-108115673-C-G c.821C>G p.S274C Missense 7/63 - 2
11-108115673-C-T c.821C>T p.S274F Missense 7/63 - 3
11-108115673-CT-AA c.821_822delinsAA p.S274* Nonsense 7/63 - 1
11-108115674-T-G c.822T>G p.S274= Synonymous 7/63 - 1
11-108115674-T-TTAA c.823_824insAAT p.S274_L275ins* InFrameInsertion 7/63 - 1
11-108115673-CT-C c.824del p.L275* Frameshift 7/63 - 9
11-108115676-T-A c.824T>A p.L275* Nonsense 7/63 - 5
11-108115676-T-C c.824T>C p.L275S Missense 7/63 - 1
11-108115676-T-G c.824T>G p.L275* Nonsense 7/63 - 5
11-108115677-A-C c.825A>C p.L275F Missense 7/63 - 1
11-108115677-A-T c.825A>T p.L275F Missense 7/63 - 2
11-108115678-A-C c.826A>C p.K276Q Missense 7/63 - 3
11-108115678-A-G c.826A>G p.K276E Missense 7/63 - 2
11-108115680-A-C c.828A>C p.K276N Missense 7/63 - 1
11-108115680-A-T c.828A>T p.K276N Missense 7/63 - 1
11-108115681-G-A c.829G>A p.E277K Missense 7/63 - 2
11-108115681-G-T c.829G>T p.E277* Nonsense 7/63 - 22
11-108115683-A-C c.831A>C p.E277D Missense 7/63 - 1
11-108115683-A-G c.831A>G p.E277= Synonymous 7/63 - 1
11-108115684-G-A c.832G>A p.V278I Missense 7/63 - 3
11-108115684-G-T c.832G>T p.V278F Missense 7/63 - 3
11-108115684-GTC-ATG c.832_834delinsATG p.V278M Missense 7/63 - 1
11-108115684-GTC-TTTTTTTAA c.832_834delinsTTTTTTTAA p.V278delinsFF* MultiAAMissense 7/63 - 1
11-108115685-GT-G c.833del p.V278Afs*42 Frameshift 7/63 - 1
11-108115687-A-C c.835A>C p.I279L Missense 7/63 - 1
11-108115687-A-G c.835A>G p.I279V Missense 7/63 - 1
11-108115687-CA-C c.835del p.I279Lfs*41 Frameshift 7/63 - 2
11-108115688-T-C c.836T>C p.I279T Missense 7/63 - 1
11-108115688-T-G c.836T>G p.I279S Missense 7/63 - 1
11-108115689-T-G c.837T>G p.I279M Missense 7/63 - 1
11-108115686-CATT-C c.838_840del p.I280del InFrameDeletion 7/63 - 1
11-108115690-A-G c.838A>G p.I280V Missense 7/63 - 3
11-108115691-T-A c.839T>A p.I280N Missense 7/63 - 2
11-108115691-T-C c.839T>C p.I280T Missense 7/63 - 2
11-108115693-G-A c.841G>A p.E281K Missense 7/63 - 4
11-108115693-G-T c.841G>T p.E281* Nonsense 7/63 - 6
11-108115696-T-A c.844T>A p.L282I Missense 7/63 - 1
11-108115696-T-C c.844T>C p.L282= Synonymous 7/63 - 1
11-108115695-AT-A c.845del p.L282Yfs*38 Frameshift 7/63 - 1
11-108115697-T-C c.845T>C p.L282S Missense 7/63 - 1
11-108115697-T-G c.845T>G p.L282* Nonsense 7/63 - 1
11-108115698-A-C c.846A>C p.L282F Missense 7/63 - 2
11-108115698-A-T c.846A>T p.L282F Missense 7/63 - 4
11-108115699-T-G c.847T>G p.F283V Missense 7/63 - 1
11-108115701-T-A c.849T>A p.F283L Missense 7/63 - 1
11-108115702-C-A c.850C>A p.Q284K Missense 7/63 - 1
11-108115702-C-T c.850C>T p.Q284* Nonsense 7/63 - 8
11-108115703-A-C c.851A>C p.Q284P Missense 7/63 - 6
11-108115703-A-T c.851A>T p.Q284L Missense 7/63 - 2
11-108115705-C-A c.853C>A p.L285M Missense 7/63 - 1
11-108115705-C-G c.853C>G p.L285V Missense 7/63 - 1
11-108115705-C-T c.853C>T p.L285= Synonymous 7/63 - 1
11-108115706-T-G c.854T>G p.L285R Missense 7/63 - 1
11-108115707-G-A c.855G>A p.L285= Synonymous 7/63 - 2
11-108115707-TG-T c.855del p.Q286Kfs*34 Frameshift 7/63 - 2
11-108115708-C-A c.856C>A p.Q286K Missense 7/63 - 3
11-108115708-C-T c.856C>T p.Q286* Nonsense 7/63 - 4
11-108115709-A-G c.857A>G p.Q286R Missense 7/63 - 1
11-108115710-A-G c.858A>G p.Q286= Synonymous 7/63 - 1
11-108115711-A-G c.859A>G p.I287V Missense 7/63 - 1
11-108115712-T-C c.860T>C p.I287T Missense 7/63 - 1
11-108115714-T-C c.862T>C p.Y288H Missense 7/63 - 2
11-108115713-T-TTAA c.863_864insATA p.I287_Y288ins* InFrameInsertion 7/63 - 1
11-108115715-A-G c.863A>G p.Y288C Missense 7/63 - 14
11-108115716-AT-A c.864del p.Y288* Frameshift 7/63 - 2
11-108115716-T-C c.864T>C p.Y288= Synonymous 7/63 - 1
11-108115717-A-C c.865A>C p.I289L Missense 7/63 - 2
11-108115718-T-C c.866T>C p.I289T Missense 7/63 - 2
11-108115718-T-G c.866T>G p.I289S Missense 7/63 - 1
11-108115719-C-G c.867C>G p.I289M Missense 7/63 - 2
11-108115720-C-T c.868C>T p.H290Y Missense 7/63 - 7
11-108115721-A-C c.869A>C p.H290P Missense 7/63 - 2
11-108115723-C-G c.871C>G p.H291D Missense 7/63 - 1
11-108115723-C-T c.871C>T p.H291Y Missense 7/63 - 3
11-108115724-A-C c.872A>C p.H291P Missense 7/63 - 2
11-108115724-A-G c.872A>G p.H291R Missense 7/63 - 6
11-108115726-C-T c.874C>T p.P292S Missense 7/63 - 3
11-108115727-C-A c.875C>A p.P292Q Missense 7/63 - 1
11-108115727-C-G c.875C>G p.P292R Missense 7/63 - 1
11-108115727-C-T c.875C>T p.P292L Missense 7/63 - 43
11-108115728-G-A c.876G>A p.P292= Synonymous 7/63 - 3
11-108115728-G-T c.876G>T p.P292= Synonymous 7/63 - 1
11-108115729-A-T c.877A>T p.K293* Nonsense 7/63 - 2
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
11-108115728-GA-G c.879del p.G294Efs*26 Frameshift 7/63 - 1
11-108115731-A-G c.879A>G p.K293= Synonymous 7/63 - 1
11-108115732-G-A c.880G>A p.G294R Missense 7/63 - 1
11-108115732-G-C c.880G>C p.G294R Missense 7/63 - 1
11-108115733-G-A c.881G>A p.G294E Missense 7/63 - 1
11-108115733-G-C c.881G>C p.G294A Missense 7/63 - 1
11-108115733-G-T c.881G>T p.G294V Missense 7/63 - 2
11-108115734-A-G c.882A>G p.G294= Synonymous 7/63 - 1
11-108115735-G-A c.883G>A p.A295T Missense 7/63 - 1
11-108115735-G-C c.883G>C p.A295P Missense 7/63 - 11
11-108115736-C-A c.884C>A p.A295D Missense 7/63 - 1
11-108115736-C-G c.884C>G p.A295G Missense 7/63 - 1
11-108115736-C-T c.884C>T p.A295V Missense 7/63 - 1
11-108115737-C-CT c.885_886insT p.K296* Nonsense 7/63 - 1
11-108115738-A-C c.886A>C p.K296Q Missense 7/63 - 3
11-108115738-A-G c.886A>G p.K296E Missense 7/63 - 2
11-108115739-A-C c.887A>C p.K296T Missense 7/63 - 1
11-108115739-A-G c.887A>G p.K296R Missense 7/63 - 4
11-108115740-A-C c.888A>C p.K296N Missense 7/63 - 3
11-108115740-A-T c.888A>T p.K296N Missense 7/63 - 2
11-108115741-ACC-GAG c.889_891delinsGAG p.T297E Missense 7/63 - 1
11-108115741-A-G c.889A>G p.T297A Missense 7/63 - 3
11-108115742-CC-AG c.890_891delinsAG p.T297K Missense 7/63 - 1
11-108115742-CC-GG c.890_891inv p.T297R Missense 7/63 - 1
11-108115742-C-T c.890C>T p.T297I Missense 7/63 - 2
11-108115743-C-A c.891C>A p.T297= Synonymous 7/63 - 2
11-108115744-C-A c.892C>A p.Q298K Missense 7/63 - 3
11-108115744-C-T c.892C>T p.Q298* Nonsense 7/63 - 5
11-108115745-CAAGAAAAAG-C c.893_901del p.Q298_G301delinsR SpliceDonorDeletion 7/63 - 1
11-108115746-A-AT c.894_895insT p.E299* Nonsense 7/63 - 1
11-108115746-A-C c.894A>C p.Q298H Missense 7/63 - 2
11-108115746-A-T c.894A>T p.Q298H Missense 7/63 - 1
11-108115744-CAAGAAAAAGGTATAAAGG-C c.895_901+11del - SpliceDonorDeletion 7/63 7/62 1
11-108115747-G-A c.895G>A p.E299K Missense 7/63 - 1
11-108115747-G-C c.895G>C p.E299Q Missense 7/63 - 1
11-108115747-G-T c.895G>T p.E299* Nonsense 7/63 - 2
11-108115748-A-G c.896A>G p.E299G Missense 7/63 - 2
11-108115749-A-C c.897A>C p.E299D Missense 7/63 - 1
11-108115749-A-T c.897A>T p.E299D Missense 7/63 - 1
11-108115751-AAAGGTATAAAGGAAATGTTTACTGTTTTGAATTTGCTTCTTCATTCAAACATAGAAGTC-A c.899_901+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 7/63 7/62 1
11-108115751-A-AGT c.899_900insGT p.G301* SpliceDonorInsertion 7/63 - 1
11-108115747-GA-G c.900del p.G301Vfs*19 Frameshift 7/63 - 1
11-108115747-G-GA c.900dup p.G301Rfs*4 SpliceDonorInsertion 7/63 - 1
11-108115752-A-AC c.900_901insC p.G301Rfs*4 SpliceDonorInsertion 7/63 - 1
11-108115752-A-AT c.900_901insT p.G301Wfs*4 SpliceDonorInsertion 7/63 - 1
11-108115752-A-G c.900A>G p.K300= Synonymous 7/63 - 3
11-108115752-A-T c.900A>T p.K300N Missense 7/63 - 2
11-108115753-G-A c.901G>A p.G301S Missense 7/63 - 7
11-108115753-G-C c.901G>C p.G301R Missense 7/63 - 2
11-108115753-G-T c.901G>T p.G301C Missense 7/63 - 6
11-108115752-AGGTATAAAGGAAATGTTTACTGTTTT-A c.901+1_901+26del - SpliceDonorDeletion - 7/62 1
11-108115754-G-A c.901+1G>A - IntronicSNV - 7/62 11
11-108115754-G-C c.901+1G>C - IntronicSNV - 7/62 2
11-108115754-G-T c.901+1G>T - IntronicSNV - 7/62 4
11-108115755-GT-G c.901+2del - IntronicDeletion - 7/62 1
11-108115755-T-A c.901+2T>A - IntronicSNV - 7/62 1
11-108115755-T-C c.901+2T>C - IntronicSNV - 7/62 3
11-108115756-A-G c.901+3A>G - IntronicSNV - 7/62 1
11-108115756-A-T c.901+3A>T - IntronicSNV - 7/62 2
11-108115778-T-G c.901+25T>G - IntronicSNV - 7/62 2
11-108115814-T-A c.901+61T>A - IntronicSNV - 7/62 1
11-108116113-A-G c.901+360A>G - IntronicSNV - 7/62 2
11-108116412-C-G c.901+659C>G - IntronicSNV - 7/62 1
11-108116482-A-C c.901+729A>C - IntronicSNV - 7/62 2
11-108117335-C-T c.902-356C>T - IntronicSNV - 7/62 8
11-108117690-G-T c.902-1G>T - IntronicSNV - 7/62 1
11-108117689-AG-A c.902del p.G301Vfs*19 Frameshift 8/63 - 1
11-108117691-G-A c.902G>A p.G301D Missense 8/63 - 10
11-108117691-G-T c.902G>T p.G301V Missense 8/63 - 1
11-108117691-G-GT c.903dup p.A302Cfs*3 SpliceAcceptorInsertion 8/63 - 2
11-108117692-T-A c.903T>A p.G301= Synonymous 8/63 - 1
11-108117692-T-G c.903T>G p.G301= Synonymous 8/63 - 2
11-108117692-T-TA c.903_904insA p.A302Sfs*3 SpliceAcceptorInsertion 8/63 - 1
11-108117692-T-TC c.903_904insC p.A302Rfs*3 SpliceAcceptorInsertion 8/63 - 1
11-108117692-T-TG c.904dup p.A302Gfs*3 Frameshift 8/63 - 1
11-108117693-G-A c.904G>A p.A302T Missense 8/63 - 1
11-108117693-G-C c.904G>C p.A302P Missense 8/63 - 1
11-108117694-C-G c.905C>G p.A302G Missense 8/63 - 1
11-108117694-C-T c.905C>T p.A302V Missense 8/63 - 4
11-108117696-T-C c.907T>C p.Y303H Missense 8/63 - 2
11-108117697-A-C c.908A>C p.Y303S Missense 8/63 - 1
11-108117698-AT-A c.909del p.Y303* Frameshift 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 - 2
11-108117699-G-A c.910G>A p.E304K Missense 8/63 - 1
11-108117699-G-C c.910G>C p.E304Q Missense 8/63 - 2
11-108117699-G-T c.910G>T p.E304* Nonsense 8/63 - 1
11-108117700-A-C c.911A>C p.E304A Missense 8/63 - 1
11-108117700-A-G c.911A>G p.E304G Missense 8/63 - 2
11-108117699-GA-G c.912del p.E304Dfs*16 Frameshift 8/63 - 2
11-108117702-TCA-AAC c.913_915delinsAAC p.S305N Missense 8/63 - 1
11-108117702-TC-AG c.913_914delinsAG p.S305R Missense 8/63 - 1
11-108117702-TC-GG c.913_914delinsGG p.S305G Missense 8/63 - 1
11-108117702-T-G c.913T>G p.S305A Missense 8/63 - 1
11-108117703-C-A c.914C>A p.S305* Nonsense 8/63 - 2
11-108117703-C-G c.914C>G p.S305* Nonsense 8/63 - 1
11-108117703-C-T c.914C>T p.S305L Missense 8/63 - 1
11-108117704-A-C c.915A>C p.S305= Synonymous 8/63 - 2
11-108117704-A-G c.915A>G p.S305= Synonymous 8/63 - 2
11-108117704-A-T c.915A>T p.S305= Synonymous 8/63 - 1
11-108117705-A-G c.916A>G p.T306A Missense 8/63 - 2
11-108117706-C-G c.917C>G p.T306R Missense 8/63 - 3
11-108117706-C-T c.917C>T p.T306I Missense 8/63 - 2
11-108117707-A-C c.918A>C p.T306= Synonymous 8/63 - 1
11-108117707-A-G c.918A>G p.T306= Synonymous 8/63 - 1
11-108117707-A-T c.918A>T p.T306= Synonymous 8/63 - 1
11-108117706-CAA-C c.920_921del p.K307Mfs*10 Frameshift 8/63 - 1
11-108117709-A-G c.920A>G p.K307R Missense 8/63 - 2
11-108117710-A-T c.921A>T p.K307N Missense 8/63 - 1
11-108117711-T-A c.922T>A p.W308R Missense 8/63 - 3
11-108117711-T-C c.922T>C p.W308R Missense 8/63 - 3
11-108117712-G-A c.923G>A p.W308* Nonsense 8/63 - 4
11-108117713-G-A c.924G>A p.W308* Nonsense 8/63 - 3
11-108117713-G-C c.924G>C p.W308C Missense 8/63 - 1
11-108117714-A-C c.925A>C p.R309= Synonymous 8/63 - 2
11-108117714-A-G c.925A>G p.R309G Missense 8/63 - 3
11-108117714-AGA-TGG c.925_927delinsTGG p.R309W Missense 8/63 - 1
11-108117714-AGA-TGT c.925_927delinsTGT p.R309C Missense 8/63 - 2
11-108117714-AG-CC c.925_926delinsCC p.R309P Missense 8/63 - 1
11-108117714-AG-CT c.925_926inv p.R309L Missense 8/63 - 1
11-108117714-A-T c.925A>T p.R309* Nonsense 8/63 - 1
11-108117715-G-A c.926G>A p.R309K Missense 8/63 - 3
11-108117715-G-T c.926G>T p.R309I Missense 8/63 - 3
11-108117716-A-T c.927A>T p.R309S Missense 8/63 - 1
11-108117717-A-G c.928A>G p.S310G Missense 8/63 - 3
11-108117717-AG-GC c.928_929delinsGC p.S310A Missense 8/63 - 1
11-108117717-AG-TA c.928_929delinsTA p.S310Y Missense 8/63 - 2
11-108117717-AG-TT c.928_929delinsTT p.S310F Missense 8/63 - 3
11-108117717-A-T c.928A>T p.S310C Missense 8/63 - 1
11-108117718-AG-A c.929del p.S310Ifs*10 Frameshift 8/63 - 1
11-108117718-G-A c.929G>A p.S310N Missense 8/63 - 1
11-108117720-A-G c.931A>G p.I311V Missense 8/63 - 4
11-108117721-T-A c.932T>A p.I311N Missense 8/63 - 1
11-108117721-T-C c.932T>C p.I311T Missense 8/63 - 1
11-108117723-T-C c.934T>C p.L312= Synonymous 8/63 - 1
11-108117723-T-G c.934T>G p.L312V Missense 8/63 - 1
11-108117725-A-G c.936A>G p.L312= Synonymous 8/63 - 1
11-108117720-A-AT c.935dup p.L312Ffs*6 Frameshift 8/63 - 1
11-108117724-T-A c.935T>A p.L312* Nonsense 8/63 - 2
11-108117724-T-G c.935T>G p.L312* Nonsense 8/63 - 1
11-108117724-T-TA c.936dup p.Y313Ifs*5 Frameshift 8/63 - 1
11-108117725-A-C c.936A>C p.L312F Missense 8/63 - 4
11-108117725-A-T c.936A>T p.L312F Missense 8/63 - 1
11-108117727-A-G c.938A>G p.Y313C Missense 8/63 - 2
11-108117728-C-A c.939C>A p.Y313* Nonsense 8/63 - 2
11-108117728-C-G c.939C>G p.Y313* Nonsense 8/63 - 1
11-108117730-A-G c.941A>G p.N314S Missense 8/63 - 2
11-108117732-CTT-C c.943_944del p.L315Ifs*2 Frameshift 8/63 - 3
11-108117731-CT-C c.944del p.L315Yfs*5 Frameshift 8/63 - 1
11-108117733-T-A c.944T>A p.L315* Nonsense 8/63 - 1
11-108117733-T-G c.944T>G p.L315* Nonsense 8/63 - 1
11-108117734-A-C c.945A>C p.L315F Missense 8/63 - 1
11-108117734-A-T c.945A>T p.L315F Missense 8/63 - 1
11-108117735-T-A c.946T>A p.Y316N Missense 8/63 - 1
11-108117735-T-C c.946T>C p.Y316H Missense 8/63 - 12
11-108117732-TTA-T c.947_948del p.Y316* Frameshift 8/63 - 1
11-108117733-TATATG-T c.947_951del p.Y316Sfs*5 Frameshift 8/63 - 2
11-108117736-A-G c.947A>G p.Y316C Missense 8/63 - 3
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-C c.949G>C p.D317H Missense 8/63 - 1
11-108117738-G-T c.949G>T p.D317Y Missense 8/63 - 1
11-108117739-A-C c.950A>C p.D317A Missense 8/63 - 1
11-108117739-A-G c.950A>G p.D317G Missense 8/63 - 9
11-108117740-T-G c.951T>G p.D317E Missense 8/63 - 1
11-108117741-C-T c.952C>T p.L318= Synonymous 8/63 - 2
11-108117743-G-A c.954G>A p.L318= Synonymous 8/63 - 1
11-108117744-C-A c.955C>A p.L319I Missense 8/63 - 2
11-108117744-CTA-ATG c.955_957delinsATG p.L319M Missense 8/63 - 1
11-108117744-CTA-TTT c.955_957delinsTTT p.L319F Missense 8/63 - 1
11-108117745-CT-C c.956del p.L319Qfs*2 Frameshift 8/63 - 1
11-108117745-T-A c.956T>A p.L319Q Missense 8/63 - 1
11-108117745-T-G c.956T>G p.L319R Missense 8/63 - 3
11-108117747-G-A c.958G>A p.V320M Missense 8/63 - 3
11-108117747-G-C c.958G>C p.V320L Missense 8/63 - 1
11-108117747-GTG-ATC c.958_960delinsATC p.V320I Missense 8/63 - 1
11-108117749-GA-G c.962del p.N321Mfs*3 Frameshift 8/63 - 1
11-108117751-A-G c.962A>G p.N321S Missense 8/63 - 2
11-108117752-T-A c.963T>A p.N321K Missense 8/63 - 1
11-108117752-T-G c.963T>G p.N321K Missense 8/63 - 1
11-108117750-AATGAG-A c.964_968del p.E322Kfs*6 Frameshift 8/63 - 3
11-108117753-G-A c.964G>A p.E322K Missense 8/63 - 4
11-108117753-G-C c.964G>C p.E322Q Missense 8/63 - 2
11-108117754-A-C c.965A>C p.E322A Missense 8/63 - 1
11-108117754-A-G c.965A>G p.E322G Missense 8/63 - 1
11-108117754-A-AG c.966dup p.I323Dfs*7 Frameshift 8/63 - 1
11-108117755-G-A c.966G>A p.E322= Synonymous 8/63 - 1
11-108117755-G-C c.966G>C p.E322D Missense 8/63 - 3
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 - 15
11-108117756-A-T c.967A>T p.I323L Missense 8/63 - 1
11-108117757-T-G c.968T>G p.I323R Missense 8/63 - 1
11-108117757-T-TGTGTG c.968_969insGTGTG p.I323Mfs*6 Frameshift 8/63 - 1
11-108117758-A-G c.969A>G p.I323M Missense 8/63 - 1
11-108117757-T-TA c.970dup p.S324Kfs*6 Frameshift 8/63 - 1
11-108117759-A-G c.970A>G p.S324G Missense 8/63 - 2
11-108117759-AG-CT c.970_971inv p.S324L Missense 8/63 - 2
11-108117759-AG-GC c.970_971delinsGC p.S324A Missense 8/63 - 1
11-108117760-G-A c.971G>A p.S324N Missense 8/63 - 3
11-108117762-C-A c.973C>A p.H325N Missense 8/63 - 1
11-108117763-A-C c.974A>C p.H325P Missense 8/63 - 1
11-108117763-A-G c.974A>G p.H325R Missense 8/63 - 2
11-108117763-A-T c.974A>T p.H325L Missense 8/63 - 2
11-108117764-T-C c.975T>C p.H325= Synonymous 8/63 - 3
11-108117764-T-G c.975T>G p.H325Q Missense 8/63 - 1
11-108117765-A-G c.976A>G p.I326V Missense 8/63 - 3
11-108117762-CAT-C c.977_978del p.I326Rfs*3 Frameshift 8/63 - 2
11-108117766-T-C c.977T>C p.I326T Missense 8/63 - 6
11-108117767-A-C c.978A>C p.I326= Synonymous 8/63 - 1
11-108117767-A-G c.978A>G p.I326M Missense 8/63 - 3
11-108117767-TA-T c.978del p.I326Mfs*20 Frameshift 8/63 - 2
11-108117768-G-A c.979G>A p.G327R Missense 8/63 - 1
11-108117768-G-T c.979G>T p.G327* Nonsense 8/63 - 1
11-108117769-G-A c.980G>A p.G327E Missense 8/63 - 1
11-108117769-G-C c.980G>C p.G327A Missense 8/63 - 3
11-108117771-A-C c.982A>C p.S328R Missense 8/63 - 1
11-108117771-AG-CT c.982_983inv p.S328L Missense 8/63 - 1
11-108117771-AG-GA c.982_983delinsGA p.S328D Missense 8/63 - 1
11-108117771-AG-GC c.982_983delinsGC p.S328A Missense 8/63 - 8
11-108117772-G-A c.983G>A p.S328N Missense 8/63 - 1
11-108117772-G-C c.983G>C p.S328T Missense 8/63 - 1
11-108117772-G-T c.983G>T p.S328I Missense 8/63 - 1
11-108117770-AAGT-A c.984_986del p.S328del InFrameDeletion 8/63 - 2
11-108117773-T-C c.984T>C p.S328= Synonymous 8/63 - 1
11-108117774-A-G c.985A>G p.R329G Missense 8/63 - 1
11-108117774-AGA-CAT c.985_987delinsCAT p.R329H Missense 8/63 - 2
11-108117774-AGA-TGG c.985_987delinsTGG p.R329W Missense 8/63 - 1
11-108117774-AGA-TGT c.985_987delinsTGT p.R329C Missense 8/63 - 1
11-108117774-A-T c.985A>T p.R329* Nonsense 8/63 - 1
11-108117775-G-A c.986G>A p.R329K Missense 8/63 - 2
11-108117775-G-C c.986G>C p.R329T Missense 8/63 - 6
11-108117775-G-T c.986G>T p.R329I Missense 8/63 - 1
11-108117776-A-T c.987A>T p.R329S Missense 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
11-108117777-G-T c.988G>T p.G330* Nonsense 8/63 - 1
11-108117778-G-A c.989G>A p.G330E Missense 8/63 - 3
11-108117778-G-C c.989G>C p.G330A Missense 8/63 - 1
11-108117778-G-T c.989G>T p.G330V Missense 8/63 - 2
11-108117779-A-C c.990A>C p.G330= Synonymous 8/63 - 1
11-108117779-A-G c.990A>G p.G330= Synonymous 8/63 - 2
11-108117779-A-T c.990A>T p.G330= Synonymous 8/63 - 1
11-108117780-AA-GC c.991_992delinsGC p.K331A Missense 8/63 - 1
11-108117780-A-C c.991A>C p.K331Q Missense 8/63 - 1
11-108117780-A-G c.991A>G p.K331E Missense 8/63 - 3
11-108117780-A-T c.991A>T p.K331* Nonsense 8/63 - 1
11-108117778-GA-G c.992del p.K331Sfs*15 Frameshift 8/63 - 4
11-108117781-A-C c.992A>C p.K331T Missense 8/63 - 1
11-108117781-A-G c.992A>G p.K331R Missense 8/63 - 1
11-108117781-A-T c.992A>T p.K331M Missense 8/63 - 1
11-108117782-G-C c.993G>C p.K331N Missense 8/63 - 3
11-108117782-G-T c.993G>T p.K331N Missense 8/63 - 2
11-108117783-T-A c.994T>A p.Y332N Missense 8/63 - 2
11-108117783-T-G c.994T>G p.Y332D Missense 8/63 - 2
11-108117784-A-G c.995A>G p.Y332C Missense 8/63 - 11
11-108117784-A-T c.995A>T p.Y332F Missense 8/63 - 1
11-108117787-C-A c.998C>A p.S333Y Missense 8/63 - 3
11-108117787-C-G c.998C>G p.S333C Missense 8/63 - 1
11-108117787-C-T c.998C>T p.S333F Missense 8/63 - 46
11-108117789-TCA-AAC c.1000_1002delinsAAC p.S334N Missense 8/63 - 1
11-108117790-C-A c.1001C>A p.S334* Nonsense 8/63 - 1
11-108117790-CA-TT c.1001_1002delinsTT p.S334F Missense 8/63 - 2
11-108117790-C-G c.1001C>G p.S334* Nonsense 8/63 - 1
11-108117792-GGA-AGC c.1003_1005delinsAGC p.G335S Missense 8/63 - 1
11-108117792-G-T c.1003G>T p.G335* Nonsense 8/63 - 4
11-108117793-G-A c.1004G>A p.G335E Missense 8/63 - 5
11-108117793-G-C c.1004G>C p.G335A Missense 8/63 - 1
11-108117793-G-T c.1004G>T p.G335V Missense 8/63 - 2
11-108117794-GA-G c.1005del p.R337Vfs*9 Frameshift 8/63 - 1
11-108117795-T-C c.1006T>C p.F336L Missense 8/63 - 2
11-108117795-T-G c.1006T>G p.F336V Missense 8/63 - 2
11-108117797-T-A c.1008T>A p.F336L Missense 8/63 - 1
11-108117797-T-G c.1008T>G p.F336L Missense 8/63 - 2
11-108117796-T-C c.1007T>C p.F336S Missense 8/63 - 2
11-108117796-T-G c.1007T>G p.F336C Missense 8/63 - 1
11-108117796-TTCGTAA-T c.1009_1014del p.R337_N338del InFrameDeletion 8/63 - 1
11-108117798-C-A c.1009C>A p.R337S Missense 8/63 - 11
11-108117798-C-G c.1009C>G p.R337G Missense 8/63 - 3
11-108117798-CG-AC c.1009_1010delinsAC p.R337T Missense 8/63 - 1
11-108117798-C-T c.1009C>T p.R337C Missense 8/63 - 127
11-108117799-G-A c.1010G>A p.R337H Missense 8/63 - 85
11-108117799-G-C c.1010G>C p.R337P Missense 8/63 - 1
11-108117799-G-T c.1010G>T p.R337L Missense 8/63 - 4
11-108117801-A-C c.1012A>C p.N338H Missense 8/63 - 1
11-108117801-A-G c.1012A>G p.N338D Missense 8/63 - 1
11-108117802-A-C c.1013A>C p.N338T Missense 8/63 - 1
11-108117802-A-G c.1013A>G p.N338S Missense 8/63 - 1
11-108117802-A-T c.1013A>T p.N338I Missense 8/63 - 2
11-108117803-T-C c.1014T>C p.N338= Synonymous 8/63 - 1
11-108117804-A-C c.1015A>C p.I339L Missense 8/63 - 1
11-108117804-A-G c.1015A>G p.I339V Missense 8/63 - 2
11-108117805-T-A c.1016T>A p.I339N Missense 8/63 - 2
11-108117804-AT-A c.1017del p.I339Mfs*7 Frameshift 8/63 - 2
11-108117806-T-C c.1017T>C p.I339= Synonymous 8/63 - 1
11-108117807-G-T c.1018G>T p.A340S Missense 8/63 - 1
11-108117808-C-A c.1019C>A p.A340D Missense 8/63 - 2
11-108117808-C-G c.1019C>G p.A340G Missense 8/63 - 4
11-108117808-C-T c.1019C>T p.A340V Missense 8/63 - 4
11-108117809-C-A c.1020C>A p.A340= Synonymous 8/63 - 3
11-108117809-C-G c.1020C>G p.A340= Synonymous 8/63 - 1
11-108117809-C-T c.1020C>T p.A340= Synonymous 8/63 - 2
11-108117810-G-A c.1021G>A p.V341I Missense 8/63 - 11
11-108117810-G-C c.1021G>C p.V341L Missense 8/63 - 1
11-108117811-GT-G c.1022del p.V341Afs*5 Frameshift 8/63 - 1
11-108117811-T-G c.1022T>G p.V341G Missense 8/63 - 1
11-108117812-C-G c.1023C>G p.V341= Synonymous 8/63 - 1
11-108117813-A-C c.1024A>C p.K342Q Missense 8/63 - 1
11-108117813-A-G c.1024A>G p.K342E Missense 8/63 - 1
11-108117813-A-T c.1024A>T p.K342* Nonsense 8/63 - 1
11-108117814-A-C c.1025A>C p.K342T Missense 8/63 - 1
11-108117814-A-G c.1025A>G p.K342R Missense 8/63 - 2
11-108117812-C-CA c.1026dup p.E343Rfs*5 Frameshift 8/63 - 1
11-108117815-A-AT c.1026_1027insT p.E343* Nonsense 8/63 - 3
11-108117815-A-C c.1026A>C p.K342N Missense 8/63 - 1
11-108117815-A-T c.1026A>T p.K342N Missense 8/63 - 1
11-108117812-CAAAG-C c.1027_1030del p.E343Ifs*2 Frameshift 8/63 - 13
11-108117816-G-A c.1027G>A p.E343K Missense 8/63 - 2
11-108117816-G-C c.1027G>C p.E343Q Missense 8/63 - 1
11-108117816-G-T c.1027G>T p.E343* Nonsense 8/63 - 2
11-108117817-A-G c.1028A>G p.E343G Missense 8/63 - 1
11-108117818-A-AT c.1029_1030insT p.N344* Nonsense 8/63 - 1
11-108117819-A-T c.1030A>T p.N344Y Missense 8/63 - 1
11-108117820-A-C c.1031A>C p.N344T Missense 8/63 - 1
11-108117820-A-G c.1031A>G p.N344S Missense 8/63 - 2
11-108117822-T-C c.1033T>C p.L345= Synonymous 8/63 - 1
11-108117822-T-G c.1033T>G p.L345V Missense 8/63 - 1
11-108117823-T-A c.1034T>A p.L345* Nonsense 8/63 - 2
11-108117824-G-A c.1035G>A p.L345= Synonymous 8/63 - 1
11-108117824-G-C c.1035G>C p.L345F Missense 8/63 - 1
11-108117824-G-T c.1035G>T p.L345F Missense 8/63 - 1
11-108117825-A-G c.1036A>G p.I346V Missense 8/63 - 2
11-108117825-GA-G c.1036del p.I346Lfs*3 Frameshift 8/63 - 2
11-108117821-TTTGA-T c.1037_1040del p.I346Nfs*2 Frameshift 8/63 - 1
11-108117826-T-A c.1037T>A p.I346N Missense 8/63 - 7
11-108117827-T-G c.1038T>G p.I346M Missense 8/63 - 1
11-108117828-G-A c.1039G>A p.E347K Missense 8/63 - 6
11-108117828-GA-AG c.1039_1040delinsAG p.E347R Missense 8/63 - 1
11-108117828-GA-TT c.1039_1040delinsTT p.E347L Missense 8/63 - 1
11-108117828-G-C c.1039G>C p.E347Q Missense 8/63 - 1
11-108117828-G-T c.1039G>T p.E347* Nonsense 8/63 - 6
11-108117829-A-C c.1040A>C p.E347A Missense 8/63 - 2
11-108117831-T-C c.1042T>C p.L348= Synonymous 8/63 - 1
11-108117832-T-A c.1043T>A p.L348* Nonsense 8/63 - 1
11-108117832-T-C c.1043T>C p.L348S Missense 8/63 - 2
11-108117833-G-A c.1044G>A p.L348= Synonymous 8/63 - 2
11-108117833-G-C c.1044G>C p.L348F Missense 8/63 - 1
11-108117833-G-T c.1044G>T p.L348F Missense 8/63 - 1
11-108117834-A-G c.1045A>G p.M349V Missense 8/63 - 1
11-108117834-GATGGCAGA-G c.1045_1052del p.M349Yfs*7 Frameshift 8/63 - 2
11-108117835-T-A c.1046T>A p.M349K Missense 8/63 - 2
11-108117835-T-C c.1046T>C p.M349T Missense 8/63 - 4
11-108117836-G-A c.1047G>A p.M349I Missense 8/63 - 4
11-108117836-G-C c.1047G>C p.M349I Missense 8/63 - 1
11-108117836-GG-TA c.1047_1048delinsTA p.M349_A350delinsIT MultiAAMissense 8/63 - 1
11-108117836-G-T c.1047G>T p.M349I Missense 8/63 - 2
11-108117837-G-A c.1048G>A p.A350T Missense 8/63 - 10
11-108117837-G-C c.1048G>C p.A350P Missense 8/63 - 1
11-108117837-G-T c.1048G>T p.A350S 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 - 4
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 - 5
11-108117840-G-C c.1051G>C p.D351H Missense 8/63 - 1
11-108117840-G-T c.1051G>T p.D351Y Missense 8/63 - 3
11-108117841-A-G c.1052A>G p.D351G Missense 8/63 - 1
11-108117841-A-T c.1052A>T p.D351V Missense 8/63 - 3
11-108117841-A-AT c.1053dup p.I352Yfs*7 Frameshift 8/63 - 2
11-108117842-T-TA c.1054dup p.I352Nfs*7 Frameshift 8/63 - 1
11-108117843-A-G c.1054A>G p.I352V Missense 8/63 - 1
11-108117843-AT-TA c.1054_1055delinsTA p.I352Y Missense 8/63 - 1
11-108117843-A-AT c.1055dup p.C353Lfs*6 Frameshift 8/63 - 1
11-108117844-T-A c.1055T>A p.I352N Missense 8/63 - 2
11-108117844-T-C c.1055T>C p.I352T Missense 8/63 - 5
11-108117844-T-G c.1055T>G p.I352S Missense 8/63 - 1
11-108117845-C-G c.1056C>G p.I352M Missense 8/63 - 2
11-108117845-C-T c.1056C>T p.I352= Synonymous 8/63 - 2
11-108117846-T-C c.1057T>C p.C353R Missense 8/63 - 2
11-108117846-TG-GC c.1057_1058delinsGC p.C353A Missense 8/63 - 2
11-108117845-CTG-C c.1058_1059del p.C353Sfs*5 Frameshift 8/63 - 16
11-108117847-G-A c.1058G>A p.C353Y Missense 8/63 - 1
11-108117847-G-T c.1058G>T p.C353F Missense 8/63 - 1
11-108117849-C-G c.1060C>G p.H354D Missense 8/63 - 4
11-108117849-C-T c.1060C>T p.H354Y Missense 8/63 - 4
11-108117849-C-CA c.1061dup p.H354Qfs*5 Frameshift 8/63 - 1
11-108117850-A-G c.1061A>G p.H354R Missense 8/63 - 1
11-108117851-C-A c.1062C>A p.H354Q Missense 8/63 - 2
11-108117851-C-G c.1062C>G p.H354Q Missense 8/63 - 1
11-108117852-C-A c.1063C>A p.Q355K Missense 8/63 - 1
11-108117852-C-G c.1063C>G p.Q355E Missense 8/63 - 1
11-108117852-C-T c.1063C>T p.Q355* Nonsense 8/63 - 9
11-108117854-G-C c.1065G>C p.Q355H Missense 8/63 - 3
11-108117854-G-T c.1065G>T p.Q355H Missense 8/63 - 4
11-108117855-G-A c.1065+1G>A - IntronicSNV - 8/62 1
11-108117855-G-C c.1065+1G>C - IntronicSNV - 8/62 4
11-108117855-G-T c.1065+1G>T - IntronicSNV - 8/62 5
11-108117856-T-C c.1065+2T>C - IntronicSNV - 8/62 1
11-108117857-A-G c.1065+3A>G - IntronicSNV - 8/62 1
11-108117858-C-T c.1065+4C>T - IntronicSNV - 8/62 1
11-108117868-G-T c.1065+14G>T - IntronicSNV - 8/62 1
11-108117871-A-G c.1065+17A>G - IntronicSNV - 8/62 1
11-108117871-A-T c.1065+17A>T - IntronicSNV - 8/62 1
11-108117876-A-G c.1065+22A>G - IntronicSNV - 8/62 1
11-108117878-A-T c.1065+24A>T - IntronicSNV - 8/62 1
11-108117890-C-A c.1065+36C>A - IntronicSNV - 8/62 1
11-108117897-A-AT c.1065+53dup - IntronicInsertion - 8/62 1
11-108117897-AT-A c.1065+53del - IntronicDeletion - 8/62 3
11-108117907-T-A c.1065+53T>A - IntronicSNV - 8/62 1
11-108117908-A-T c.1065+54A>T - IntronicSNV - 8/62 1
11-108117952-G-A c.1065+98G>A - IntronicSNV - 8/62 1
11-108118182-A-T c.1065+328A>T - IntronicSNV - 8/62 1
11-108118234-T-A c.1065+380T>A - IntronicSNV - 8/62 1
11-108119048-C-A c.1066-612C>A - IntronicSNV - 8/62 2
11-108119366-A-G c.1066-294A>G - IntronicSNV - 8/62 1
11-108119366-A-T c.1066-294A>T - IntronicSNV - 8/62 1
11-108119586-A-G c.1066-74A>G - IntronicSNV - 8/62 1
11-108119603-G-A c.1066-57G>A - IntronicSNV - 8/62 1
11-108119654-T-C c.1066-6T>C - IntronicSNV - 8/62 6
11-108119654-T-G c.1066-6T>G - IntronicSNV - 8/62 6
11-108119658-A-AG c.1066dup p.V356Gfs*3 SpliceAcceptorInsertion 9/63 - 1
11-108119660-G-A c.1066G>A p.V356I Missense 9/63 - 4
11-108119660-G-T c.1066G>T p.V356F Missense 9/63 - 1
11-108119660-GTT-ATG c.1066_1068delinsATG p.V356M Missense 9/63 - 1
11-108119663-T-C c.1069T>C p.F357L Missense 9/63 - 2
11-108119665-T-A c.1071T>A p.F357L Missense 9/63 - 2
11-108119665-T-G c.1071T>G p.F357L Missense 9/63 - 2
11-108119660-GT-G c.1071del p.F357Lfs*33 Frameshift 9/63 - 3
11-108119667-A-G c.1073A>G p.N358S Missense 9/63 - 9
11-108119667-A-T c.1073A>T p.N358I Missense 9/63 - 3
11-108119669-G-A c.1075G>A p.E359K Missense 9/63 - 4
11-108119669-G-T c.1075G>T p.E359* Nonsense 9/63 - 5
11-108119670-AAGATACCAGATCCTTGGAGA-TGTAAGG c.1076_1096delinsTGTAAGG p.E359Vfs*2 Frameshift 9/63 - 1
11-108119670-A-G c.1076A>G p.E359G Missense 9/63 - 3
11-108119669-GA-G c.1077del p.D360Ifs*30 Frameshift 9/63 - 1
11-108119672-G-A c.1078G>A p.D360N Missense 9/63 - 1
11-108119672-G-C c.1078G>C p.D360H Missense 9/63 - 1
11-108119672-G-T c.1078G>T p.D360Y Missense 9/63 - 6
11-108119673-A-G c.1079A>G p.D360G Missense 9/63 - 1
11-108119673-A-T c.1079A>T p.D360V Missense 9/63 - 1
11-108119674-T-G c.1080T>G p.D360E Missense 9/63 - 2
11-108119675-ACC-GAG c.1081_1083delinsGAG p.T361E Missense 9/63 - 1
11-108119675-A-G c.1081A>G p.T361A Missense 9/63 - 1
11-108119676-C-A c.1082C>A p.T361N Missense 9/63 - 1
11-108119678-AGA-TGT c.1084_1086delinsTGT p.R362C Missense 9/63 - 1
11-108119678-AG-CA c.1084_1085delinsCA p.R362Q Missense 9/63 - 1
11-108119678-AG-CC c.1084_1085delinsCC p.R362P Missense 9/63 - 1
11-108119678-A-T c.1084A>T p.R362* Nonsense 9/63 - 1
11-108119679-G-A c.1085G>A p.R362K Missense 9/63 - 1
11-108119679-G-T c.1085G>T p.R362I Missense 9/63 - 1
11-108119680-A-C c.1086A>C p.R362S Missense 9/63 - 1
11-108119680-A-T c.1086A>T p.R362S Missense 9/63 - 2
11-108119681-TC-AA c.1087_1088delinsAA p.S363N Missense 9/63 - 1
11-108119681-T-G c.1087T>G p.S363A Missense 9/63 - 1
11-108119682-C-T c.1088C>T p.S363F Missense 9/63 - 5
11-108119681-TC-T c.1089del p.L364Wfs*26 Frameshift 9/63 - 1
11-108119683-C-A c.1089C>A p.S363= Synonymous 9/63 - 1
11-108119683-C-G c.1089C>G p.S363= Synonymous 9/63 - 1
11-108119683-C-T c.1089C>T p.S363= Synonymous 9/63 - 1
11-108119684-TTG-ATC c.1090_1092delinsATC p.L364I Missense 9/63 - 1
11-108119685-T-C c.1091T>C p.L364S Missense 9/63 - 1
11-108119681-TCCTTGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTC-T c.1093_1151del p.E365Qfs*22 SpliceDonorDeletion 9/63 - 1
11-108119686-G-T c.1092G>T p.L364F Missense 9/63 - 2
11-108119687-G-A c.1093G>A p.E365K Missense 9/63 - 3
11-108119687-G-C c.1093G>C p.E365Q Missense 9/63 - 1
11-108119687-G-T c.1093G>T p.E365* Nonsense 9/63 - 3
11-108119688-A-C c.1094A>C p.E365A Missense 9/63 - 1
11-108119689-G-A c.1095G>A p.E365= Synonymous 9/63 - 1
11-108119689-GATTTCT-A c.1095_1101delinsA p.I366_S367del InFrameDeletion 9/63 - 1
11-108119689-G-C c.1095G>C p.E365D Missense 9/63 - 1
11-108119689-G-T c.1095G>T p.E365D Missense 9/63 - 1
11-108119690-A-C c.1096A>C p.I366L Missense 9/63 - 1
11-108119690-A-G c.1096A>G p.I366V Missense 9/63 - 1
11-108119693-T-C c.1099T>C p.S367P Missense 9/63 - 3
11-108119693-TC-CT c.1099_1100delinsCT p.S367L Missense 9/63 - 1
11-108119693-TC-GA c.1099_1100inv p.S367D Missense 9/63 - 1
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 - 13
11-108119694-C-A c.1100C>A p.S367Y Missense 9/63 - 1
11-108119694-C-T c.1100C>T p.S367F Missense 9/63 - 5
11-108119694-TC-T c.1100del p.S367Ffs*23 Frameshift 9/63 - 5
11-108119696-C-A c.1102C>A p.Q368K Missense 9/63 - 1
11-108119696-CA-AT c.1102_1103delinsAT p.Q368I Missense 9/63 - 1
11-108119696-C-G c.1102C>G p.Q368E Missense 9/63 - 2
11-108119696-C-T c.1102C>T p.Q368* Nonsense 9/63 - 6
11-108119697-A-G c.1103A>G p.Q368R Missense 9/63 - 1
11-108119697-A-T c.1103A>T p.Q368L Missense 9/63 - 1
11-108119698-A-C c.1104A>C p.Q368H Missense 9/63 - 1
11-108119698-A-G c.1104A>G p.Q368= Synonymous 9/63 - 2
11-108119699-TC-GG c.1105_1106delinsGG p.S369G Missense 9/63 - 1
11-108119699-T-G c.1105T>G p.S369A Missense 9/63 - 3
11-108119700-C-A c.1106C>A p.S369Y Missense 9/63 - 1
11-108119700-C-G c.1106C>G p.S369C Missense 9/63 - 2
11-108119700-C-T c.1106C>T p.S369F Missense 9/63 - 3
11-108119700-CT-C c.1108del p.Y370Tfs*20 Frameshift 9/63 - 1
11-108119702-T-C c.1108T>C p.Y370H Missense 9/63 - 1
11-108119702-T-TA c.1109dup p.Y370* Nonsense 9/63 - 5
11-108119703-A-G c.1109A>G p.Y370C Missense 9/63 - 2
11-108119703-A-T c.1109A>T p.Y370F Missense 9/63 - 1
11-108119704-AC-A c.1110del p.Y370* Frameshift 9/63 - 2
11-108119704-C-A c.1110C>A p.Y370* Nonsense 9/63 - 5
11-108119704-C-G c.1110C>G p.Y370* Nonsense 9/63 - 10
11-108119704-C-T c.1110C>T p.Y370= Synonymous 9/63 - 1
11-108119705-A-G c.1111A>G p.T371A Missense 9/63 - 4
11-108119706-C-A c.1112C>A p.T371N Missense 9/63 - 1
11-108119706-C-G c.1112C>G p.T371S Missense 9/63 - 2
11-108119706-C-T c.1112C>T p.T371I Missense 9/63 - 5
11-108119706-CT-GG c.1112_1113delinsGG p.T371R Missense 9/63 - 1
11-108119707-T-TTA c.1113_1114insTA p.T372* Nonsense 9/63 - 1
11-108119708-A-C c.1114A>C p.T372P Missense 9/63 - 1
11-108119708-ACT-GAG c.1114_1116delinsGAG p.T372E Missense 9/63 - 1
11-108119708-A-G c.1114A>G p.T372A Missense 9/63 - 2
11-108119709-C-G c.1115C>G p.T372S Missense 9/63 - 1
11-108119709-C-T c.1115C>T p.T372I Missense 9/63 - 1
11-108119709-CT-GG c.1115_1116delinsGG p.T372R Missense 9/63 - 1
11-108119709-CT-TG c.1115_1116delinsTG p.T372M Missense 9/63 - 2
11-108119710-T-A c.1116T>A p.T372= Synonymous 9/63 - 1
11-108119710-T-C c.1116T>C p.T372= Synonymous 9/63 - 1
11-108119710-T-G c.1116T>G p.T372= Synonymous 9/63 - 1
11-108119711-A-C c.1117A>C p.T373P Missense 9/63 - 1
11-108119711-ACA-TGT c.1117_1119inv p.T373C Missense 9/63 - 1
11-108119711-AC-GA c.1117_1118delinsGA p.T373E Missense 9/63 - 1
11-108119711-A-G c.1117A>G p.T373A Missense 9/63 - 3
11-108119712-C-A c.1118C>A p.T373K Missense 9/63 - 1
11-108119712-C-G c.1118C>G p.T373R Missense 9/63 - 3
11-108119712-C-T c.1118C>T p.T373I Missense 9/63 - 2
11-108119714-CA-GC c.1120_1121delinsGC p.Q374A Missense 9/63 - 1
11-108119714-C-G c.1120C>G p.Q374E Missense 9/63 - 1
11-108119714-C-T c.1120C>T p.Q374* Nonsense 9/63 - 6
11-108119715-A-C c.1121A>C p.Q374P Missense 9/63 - 1
11-108119715-A-G c.1121A>G p.Q374R Missense 9/63 - 2
11-108119715-A-T c.1121A>T p.Q374L Missense 9/63 - 1
11-108119714-CAA-C c.1122_1123del p.E376Ifs*2 Frameshift 9/63 - 7
11-108119716-A-C c.1122A>C p.Q374H Missense 9/63 - 1
11-108119716-A-G c.1122A>G p.Q374= Synonymous 9/63 - 1
11-108119716-A-T c.1122A>T p.Q374H Missense 9/63 - 1
11-108119717-AGA-CAT c.1123_1125delinsCAT p.R375H Missense 9/63 - 2
11-108119717-AGA-TGT c.1123_1125delinsTGT p.R375C Missense 9/63 - 1
11-108119717-AG-CA c.1123_1124delinsCA p.R375Q Missense 9/63 - 1
11-108119717-A-T c.1123A>T p.R375* Nonsense 9/63 - 1
11-108119718-AG-A c.1124del p.R375Kfs*15 Frameshift 9/63 - 2
11-108119718-G-A c.1124G>A p.R375K Missense 9/63 - 1
11-108119717-A-C c.1123A>C p.R375= Synonymous 9/63 - 1
11-108119719-A-AT c.1125_1126insT p.E376* Nonsense 9/63 - 1
11-108119719-A-G c.1125A>G p.R375= Synonymous 9/63 - 1
11-108119719-A-T c.1125A>T p.R375S Missense 9/63 - 1
11-108119716-AAG-A c.1126_1127del p.E376Ifs*2 Frameshift 9/63 - 2
11-108119720-G-T c.1126G>T p.E376* Nonsense 9/63 - 6
11-108119721-A-G c.1127A>G p.E376G Missense 9/63 - 1
11-108119722-A-C c.1128A>C p.E376D Missense 9/63 - 3
11-108119722-A-T c.1128A>T p.E376D Missense 9/63 - 2
11-108119723-T-C c.1129T>C p.S377P Missense 9/63 - 1
11-108119723-TC-GG c.1129_1130delinsGG p.S377G Missense 9/63 - 1
11-108119724-C-G c.1130C>G p.S377C Missense 9/63 - 1
11-108119724-C-T c.1130C>T p.S377F Missense 9/63 - 1
11-108119724-CT-AA c.1130_1131delinsAA p.S377* Nonsense 9/63 - 1
11-108119725-T-A c.1131T>A p.S377= Synonymous 9/63 - 1
11-108119725-T-C c.1131T>C p.S377= Synonymous 9/63 - 1
11-108119725-T-G c.1131T>G p.S377= Synonymous 9/63 - 1
11-108119726-A-G c.1132A>G p.S378G Missense 9/63 - 4
11-108119726-AG-GC c.1132_1133delinsGC p.S378A Missense 9/63 - 2
11-108119727-G-A c.1133G>A p.S378N Missense 9/63 - 1
11-108119727-G-C c.1133G>C p.S378T Missense 9/63 - 1
11-108119726-A-C c.1132A>C p.S378R Missense 9/63 - 8
11-108119728-T-A c.1134T>A p.S378R Missense 9/63 - 8
11-108119728-T-G c.1134T>G p.S378R Missense 9/63 - 12
11-108119729-G-A c.1135G>A p.D379N Missense 9/63 - 1
11-108119732-T-A c.1138T>A p.Y380N Missense 9/63 - 5
11-108119732-T-C c.1138T>C p.Y380H Missense 9/63 - 1
11-108119733-A-C c.1139A>C p.Y380S Missense 9/63 - 1
11-108119733-A-G c.1139A>G p.Y380C Missense 9/63 - 1
11-108119732-TAC-T c.1140_1141del p.Y380* Frameshift 9/63 - 2
11-108119734-C-CT c.1140_1141insT p.S381* Nonsense 9/63 - 1
11-108119735-A-G c.1141A>G p.S381G Missense 9/63 - 3
11-108119735-AG-TA c.1141_1142delinsTA p.S381Y Missense 9/63 - 1
11-108119735-AGT-TGA c.1141_1143delinsTGA p.S381* Nonsense 9/63 - 2
11-108119735-CAG-C c.1141_1142del p.S381Cfs*25 Frameshift 9/63 - 1
11-108119736-AG-A c.1142del p.S381Mfs*9 Frameshift 9/63 - 1
11-108119736-G-T c.1142G>T p.S381I Missense 9/63 - 1
11-108119737-T-TACAG c.1143_1144insACAG p.V382Tfs*26 Frameshift 9/63 - 1
11-108119740-C-G c.1146C>G p.V382= Synonymous 9/63 - 1
11-108119741-C-G c.1147C>G p.P383A Missense 9/63 - 3
11-108119741-C-T c.1147C>T p.P383S Missense 9/63 - 2
11-108119742-C-G c.1148C>G p.P383R Missense 9/63 - 1
11-108119742-C-T c.1148C>T p.P383L Missense 9/63 - 2
11-108119743-T-A c.1149T>A p.P383= Synonymous 9/63 - 2
11-108119743-T-C c.1149T>C p.P383= Synonymous 9/63 - 2
11-108119743-T-G c.1149T>G p.P383= Synonymous 9/63 - 2
11-108119742-C-CT c.1150dup p.C384Lfs*23 Frameshift 9/63 - 1
11-108119744-TG-AC c.1150_1151delinsAC p.C384T Missense 9/63 - 1
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-AC c.1153_1154insC p.K385Tfs*22 Frameshift 9/63 - 1
11-108119747-A-C c.1153A>C p.K385Q Missense 9/63 - 1
11-108119748-A-G c.1154A>G p.K385R Missense 9/63 - 1
11-108119746-C-CA c.1156dup p.R386Kfs*21 Frameshift 9/63 - 2
11-108119750-A-G c.1156A>G p.R386G Missense 9/63 - 1
11-108119750-AG-CT c.1156_1157inv p.R386L Missense 9/63 - 1
11-108119750-AGG-CAT c.1156_1158delinsCAT p.R386H Missense 9/63 - 1
11-108119750-AGG-TGT c.1156_1158delinsTGT p.R386C Missense 9/63 - 1
11-108119750-A-T c.1156A>T p.R386W Missense 9/63 - 1
11-108119751-G-A c.1157G>A p.R386K Missense 9/63 - 3
11-108119750-AG-A c.1158del p.K387Rfs*3 Frameshift 9/63 - 5
11-108119752-G-T c.1158G>T p.R386S Missense 9/63 - 1
11-108119753-A-C c.1159A>C p.K387Q Missense 9/63 - 1
11-108119753-A-G c.1159A>G p.K387E Missense 9/63 - 1
11-108119754-A-G c.1160A>G p.K387R Missense 9/63 - 2
11-108119755-G-C c.1161G>C p.K387N Missense 9/63 - 5
11-108119755-G-T c.1161G>T p.K387N Missense 9/63 - 4
11-108119756-A-G c.1162A>G p.K388E Missense 9/63 - 2
11-108119756-A-T c.1162A>T p.K388* Nonsense 9/63 - 1
11-108119757-A-C c.1163A>C p.K388T Missense 9/63 - 3
11-108119757-A-G c.1163A>G p.K388R Missense 9/63 - 3
11-108119758-A-C c.1164A>C p.K388N Missense 9/63 - 1
11-108119758-A-T c.1164A>T p.K388N Missense 9/63 - 2
11-108119759-A-C c.1165A>C p.I389L Missense 9/63 - 1
11-108119759-A-G c.1165A>G p.I389V Missense 9/63 - 3
11-108119760-T-C c.1166T>C p.I389T Missense 9/63 - 2
11-108119761-A-G c.1167A>G p.I389M Missense 9/63 - 1
11-108119761-TA-T c.1167del p.I389Mfs*3 Frameshift 9/63 - 1
11-108119762-G-A c.1168G>A p.E390K Missense 9/63 - 2
11-108119762-G-C c.1168G>C p.E390Q Missense 9/63 - 1
11-108119762-G-T c.1168G>T p.E390* Nonsense 9/63 - 10
11-108119765-C-A c.1171C>A p.L391I Missense 9/63 - 1
11-108119765-C-T c.1171C>T p.L391= Synonymous 9/63 - 1
11-108119767-A-C c.1173A>C p.L391= Synonymous 9/63 - 1
11-108119767-A-G c.1173A>G p.L391= Synonymous 9/63 - 1
11-108119767-A-T c.1173A>T p.L391= Synonymous 9/63 - 1
11-108119768-G-A c.1174G>A p.G392S Missense 9/63 - 1
11-108119769-G-A c.1175G>A p.G392D Missense 9/63 - 2
11-108119769-G-T c.1175G>T p.G392V Missense 9/63 - 2
11-108119770-C-G c.1176C>G p.G392= Synonymous 9/63 - 5
11-108119770-C-T c.1176C>T p.G392= Synonymous 9/63 - 5
11-108119771-T-C c.1177T>C p.W393R Missense 9/63 - 1
11-108119771-TG-GC c.1177_1178delinsGC p.W393A Missense 9/63 - 1
11-108119772-G-A c.1178G>A p.W393* Nonsense 9/63 - 4
11-108119772-G-T c.1178G>T p.W393L Missense 9/63 - 4
11-108119772-TGGG-T c.1178_1180del p.W393_E394delins* MultiAAMissense 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 - 6
11-108119773-G-C c.1179G>C p.W393C Missense 9/63 - 1
11-108119774-G-A c.1180G>A p.E394K Missense 9/63 - 3
11-108119775-A-C c.1181A>C p.E394A Missense 9/63 - 1
11-108119776-A-C c.1182A>C p.E394D Missense 9/63 - 2
11-108119776-A-G c.1182A>G p.E394= Synonymous 9/63 - 1
11-108119776-A-T c.1182A>T p.E394D Missense 9/63 - 1
11-108119777-G-A c.1183G>A p.V395I Missense 9/63 - 3
11-108119777-G-C c.1183G>C p.V395L Missense 9/63 - 1
11-108119778-T-C c.1184T>C p.V395A Missense 9/63 - 2
11-108119778-T-TA c.1186dup p.I396Nfs*11 Frameshift 9/63 - 1
11-108119780-A-C c.1186A>C p.I396L Missense 9/63 - 1
11-108119780-A-G c.1186A>G p.I396V Missense 9/63 - 1
11-108119780-A-T c.1186A>T p.I396L Missense 9/63 - 1
11-108119781-T-A c.1187T>A p.I396K Missense 9/63 - 1
11-108119782-A-G c.1188A>G p.I396M Missense 9/63 - 2
11-108119783-A-C c.1189A>C p.K397Q Missense 9/63 - 1
11-108119781-TAA-T c.1190_1191del p.K397Rfs*9 Frameshift 9/63 - 1
11-108119785-A-G c.1191A>G p.K397= Synonymous 9/63 - 1
11-108119786-AG-A c.1192del p.D398Ifs*22 Frameshift 9/63 - 2
11-108119786-G-A c.1192G>A p.D398N Missense 9/63 - 3
11-108119786-G-C c.1192G>C p.D398H Missense 9/63 - 6
11-108119786-G-T c.1192G>T p.D398Y Missense 9/63 - 1
11-108119787-A-C c.1193A>C p.D398A Missense 9/63 - 1
11-108119787-A-G c.1193A>G p.D398G Missense 9/63 - 1
11-108119787-A-T c.1193A>T p.D398V Missense 9/63 - 1
11-108119789-C-A c.1195C>A p.H399N Missense 9/63 - 1
11-108119789-C-T c.1195C>T p.H399Y Missense 9/63 - 3
11-108119790-A-C c.1196A>C p.H399P Missense 9/63 - 1
11-108119790-A-G c.1196A>G p.H399R Missense 9/63 - 1
11-108119791-C-G c.1197C>G p.H399Q Missense 9/63 - 1
11-108119791-C-T c.1197C>T p.H399= Synonymous 9/63 - 1
11-108119792-C-A c.1198C>A p.L400I Missense 9/63 - 2
11-108119795-C-G c.1201C>G p.Q401E Missense 9/63 - 1
11-108119795-C-T c.1201C>T p.Q401* Nonsense 9/63 - 4
11-108119796-A-G c.1202A>G p.Q401R Missense 9/63 - 1
11-108119796-A-T c.1202A>T p.Q401L Missense 9/63 - 1
11-108119798-GAA-G c.1204_1205del p.K402Vfs*4 Frameshift 9/63 - 1
11-108119800-G-A c.1206G>A p.K402= Synonymous 9/63 - 1
11-108119801-TC-AG c.1207_1208delinsAG p.S403R Missense 9/63 - 1
11-108119801-T-G c.1207T>G p.S403A Missense 9/63 - 7
11-108119802-C-A c.1208C>A p.S403* Nonsense 9/63 - 4
11-108119802-C-G c.1208C>G p.S403* Nonsense 9/63 - 2
11-108119802-C-T c.1208C>T p.S403L Missense 9/63 - 7
11-108119804-C-G c.1210C>G p.Q404E Missense 9/63 - 1
11-108119804-C-T c.1210C>T p.Q404* Nonsense 9/63 - 3
11-108119805-A-G c.1211A>G p.Q404R Missense 9/63 - 1
11-108119804-CAG-C c.1212_1213del p.N405* Frameshift 9/63 - 3
11-108119806-G-C c.1212G>C p.Q404H Missense 9/63 - 4
11-108119806-G-GTAA c.1212_1213insTAA p.Q404_N405ins* InFrameInsertion 9/63 - 1
11-108119806-G-T c.1212G>T p.Q404H Missense 9/63 - 4
11-108119806-GA-G c.1214del p.N405Mfs*15 Frameshift 9/63 - 1
11-108119808-A-G c.1214A>G p.N405S Missense 9/63 - 2
11-108119809-AT-A c.1215del p.N405Kfs*15 Frameshift 9/63 - 7
11-108119809-T-A c.1215T>A p.N405K Missense 9/63 - 3
11-108119809-T-G c.1215T>G p.N405K Missense 9/63 - 4
11-108119810-G-A c.1216G>A p.D406N Missense 9/63 - 5
11-108119810-G-T c.1216G>T p.D406Y Missense 9/63 - 2
11-108119814-T-G c.1220T>G p.F407C Missense 9/63 - 1
11-108119811-A-AT c.1221dup p.D408* Nonsense 9/63 - 2
11-108119816-G-A c.1222G>A p.D408N Missense 9/63 - 3
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 - 2
11-108119818-T-G c.1224T>G p.D408E Missense 9/63 - 1
11-108119819-C-A c.1225C>A p.L409I Missense 9/63 - 1
11-108119819-C-T c.1225C>T p.L409F Missense 9/63 - 5
11-108119820-T-C c.1226T>C p.L409P Missense 9/63 - 3
11-108119821-T-C c.1227T>C p.L409= Synonymous 9/63 - 1
11-108119822-G-A c.1228G>A p.V410M Missense 9/63 - 3
11-108119823-T-A c.1229T>A p.V410E Missense 9/63 - 1
11-108119823-T-C c.1229T>C p.V410A Missense 9/63 - 83
11-108119823-T-G c.1229T>G p.V410G Missense 9/63 - 1
11-108119825-C-A c.1231C>A p.P411T Missense 9/63 - 1
11-108119825-C-T c.1231C>T p.P411S Missense 9/63 - 3
11-108119826-C-A c.1232C>A p.P411H Missense 9/63 - 1
11-108119826-C-G c.1232C>G p.P411R Missense 9/63 - 2
11-108119826-C-T c.1232C>T p.P411L Missense 9/63 - 2
11-108119828-T-C c.1234T>C p.W412R Missense 9/63 - 4
11-108119829-G-A c.1235G>A p.W412* Nonsense 9/63 - 10
11-108119829-G-C c.1235G>C p.W412S Missense 9/63 - 3
11-108119829-G-T c.1235G>T p.W412L Missense 9/63 - 2
11-108121428-G-A c.1236G>A p.W412* Nonsense 10/63 - 7
11-108119830-G-A c.1235+1G>A - IntronicSNV - 9/62 1
11-108119831-T-C c.1235+2T>C - IntronicSNV - 9/62 3
11-108119832-A-G c.1235+3A>G - IntronicSNV - 9/62 2
11-108119831-TAA-T c.1235+4_1235+5del - IntronicDeletion - 9/62 1
11-108119834-A-G c.1235+5A>G - IntronicSNV - 9/62 1
11-108119834-A-T c.1235+5A>T - IntronicSNV - 9/62 1
11-108119838-T-C c.1235+9T>C - IntronicSNV - 9/62 1
11-108119839-T-TA c.1235+11dup - IntronicInsertion - 9/62 1
11-108119840-A-G c.1235+11A>G - IntronicSNV - 9/62 1
11-108119844-T-G c.1235+15T>G - IntronicSNV - 9/62 1
11-108119845-T-C c.1235+16T>C - IntronicSNV - 9/62 1
11-108119849-T-G c.1235+20T>G - 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 3
11-108121425-T-TC c.1236-3_1236-2insC - IntronicInsertion - 9/62 4
11-108121426-A-G c.1236-2A>G - IntronicSNV - 9/62 3
11-108121426-A-T c.1236-2A>T - IntronicSNV - 9/62 3
11-108121426-A-AG c.1236dup p.L413Afs*17 SpliceAcceptorInsertion 10/63 - 1
11-108121428-G-C c.1236G>C p.W412C Missense 10/63 - 6
11-108121428-GGCT-G c.1236_1238del p.W412_L413delins* SpliceAcceptorDeletion 10/63 - 1
11-108121428-G-T c.1236G>T p.W412C Missense 10/63 - 6
11-108121429-C-A c.1237C>A p.L413I Missense 10/63 - 7
11-108121429-C-G c.1237C>G p.L413V Missense 10/63 - 1
11-108121429-C-T c.1237C>T p.L413= Synonymous 10/63 - 2
11-108121429-CTA-ATG c.1237_1239delinsATG p.L413M Missense 10/63 - 1
11-108121430-T-G c.1238T>G p.L413R Missense 10/63 - 1
11-108121432-C-A c.1240C>A p.Q414K Missense 10/63 - 1
11-108121432-CA-GC c.1240_1241delinsGC p.Q414A Missense 10/63 - 1
11-108121432-C-G c.1240C>G p.Q414E Missense 10/63 - 1
11-108121432-C-T c.1240C>T p.Q414* Nonsense 10/63 - 4
11-108121433-A-G c.1241A>G p.Q414R Missense 10/63 - 2
11-108121434-G-T c.1242G>T p.Q414H Missense 10/63 - 2
11-108121435-A-T c.1243A>T p.I415F Missense 10/63 - 4
11-108121436-T-A c.1244T>A p.I415N Missense 10/63 - 1
11-108121436-T-G c.1244T>G p.I415S Missense 10/63 - 1
11-108121437-T-G c.1245T>G p.I415M Missense 10/63 - 1
11-108121438-G-A c.1246G>A p.A416T Missense 10/63 - 3
11-108121438-GC-TT c.1246_1247delinsTT p.A416L Missense 10/63 - 3
11-108121438-G-T c.1246G>T p.A416S Missense 10/63 - 2
11-108121439-C-A c.1247C>A p.A416E Missense 10/63 - 2
11-108121439-C-T c.1247C>T p.A416V Missense 10/63 - 2
11-108121439-CA-C c.1249del p.T417Pfs*3 Frameshift 10/63 - 2
11-108121441-AACC-A c.1249_1251del p.T417del InFrameDeletion 10/63 - 1
11-108121441-ACC-GCAGCA c.1249_1251delinsGCAGCA p.T417delinsAA MultiAAMissense 10/63 - 1
11-108121441-A-G c.1249A>G p.T417A Missense 10/63 - 4
11-108121442-C-T c.1250C>T p.T417I Missense 10/63 - 1
11-108121444-C-A c.1252C>A p.Q418K Missense 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 - 12
11-108121448-T-A c.1256T>A p.L419* Nonsense 10/63 - 1
11-108121448-TTA-T c.1256_1257del p.L419Yfs*10 Frameshift 10/63 - 1
11-108121449-A-C c.1257A>C p.L419F Missense 10/63 - 1
11-108121449-A-T c.1257A>T p.L419F Missense 10/63 - 1
11-108121448-TA-T c.1258del p.I420Yfs*17 Frameshift 10/63 - 2
11-108121450-A-C c.1258A>C p.I420L Missense 10/63 - 1
11-108121450-A-G c.1258A>G p.I420V Missense 10/63 - 2
11-108121451-T-C c.1259T>C p.I420T Missense 10/63 - 2
11-108121451-TATC-T c.1261_1263del p.S421del InFrameDeletion 10/63 - 1
11-108121453-T-C c.1261T>C p.S421P Missense 10/63 - 4
11-108121453-TCA-AAC c.1261_1263delinsAAC p.S421N Missense 10/63 - 1
11-108121453-TC-AG c.1261_1262delinsAG p.S421R Missense 10/63 - 1
11-108121453-T-G c.1261T>G p.S421A Missense 10/63 - 1
11-108121454-C-A c.1262C>A p.S421* Nonsense 10/63 - 4
11-108121454-C-G c.1262C>G p.S421* Nonsense 10/63 - 4
11-108121454-C-T c.1262C>T p.S421L Missense 10/63 - 2
11-108121455-A-C c.1263A>C p.S421= Synonymous 10/63 - 1
11-108121456-A-T c.1264A>T p.K422* Nonsense 10/63 - 1
11-108121457-A-T c.1265A>T p.K422M 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
11-108121460-A-G c.1268A>G p.Y423C Missense 10/63 - 1
11-108121462-C-T c.1270C>T p.P424S Missense 10/63 - 6
11-108121463-C-A c.1271C>A p.P424H Missense 10/63 - 5
11-108121463-C-T c.1271C>T p.P424L Missense 10/63 - 4
11-108121464-T-C c.1272T>C p.P424= Synonymous 10/63 - 4
11-108121465-G-A c.1273G>A p.A425T Missense 10/63 - 2
11-108121465-G-T c.1273G>T p.A425S Missense 10/63 - 4
11-108121465-TG-T c.1273del p.A425Qfs*12 Frameshift 10/63 - 1
11-108121466-C-A c.1274C>A p.A425E Missense 10/63 - 1
11-108121466-C-T c.1274C>T p.A425V Missense 10/63 - 1
11-108121467-A-G c.1275A>G p.A425= Synonymous 10/63 - 1
11-108121466-C-CA c.1276dup p.S426Kfs*4 Frameshift 10/63 - 2
11-108121468-AG-GC c.1276_1277delinsGC p.S426A Missense 10/63 - 2
11-108121469-G-A c.1277G>A p.S426N Missense 10/63 - 1
11-108121469-G-T c.1277G>T p.S426I Missense 10/63 - 1
11-108121468-A-C c.1276A>C p.S426R Missense 10/63 - 1
11-108121470-T-A c.1278T>A p.S426R Missense 10/63 - 1
11-108121470-T-C c.1278T>C p.S426= Synonymous 10/63 - 1
11-108121470-T-G c.1278T>G p.S426R Missense 10/63 - 2
11-108121471-T-C c.1279T>C p.L427= Synonymous 10/63 - 1
11-108121473-A-G c.1281A>G p.L427= Synonymous 10/63 - 1
11-108121472-T-A c.1280T>A p.L427* Nonsense 10/63 - 3
11-108121472-T-G c.1280T>G p.L427* Nonsense 10/63 - 2
11-108121474-ACCTAACT-A c.1282_1288del p.P428Vfs*7 Frameshift 10/63 - 1
11-108121474-C-G c.1282C>G p.P428A Missense 10/63 - 1
11-108121474-C-T c.1282C>T p.P428S Missense 10/63 - 3
11-108121475-C-T c.1283C>T p.P428L Missense 10/63 - 3
11-108121476-CTAACTGTG-C c.1284_1291del p.N429Afs*55 Frameshift 10/63 - 2
11-108121474-CCTAA-C c.1285_1288del p.N429Vfs*7 Frameshift 10/63 - 3
11-108121477-A-AT c.1285_1286insT p.N429Ifs*3 Frameshift 10/63 - 1
11-108121477-A-T c.1285A>T p.N429Y Missense 10/63 - 1
11-108121476-TA-T c.1286del p.N429Tfs*8 Frameshift 10/63 - 1
11-108121478-A-G c.1286A>G p.N429S Missense 10/63 - 1
11-108121479-C-A c.1287C>A p.N429K Missense 10/63 - 1
11-108121480-T-A c.1288T>A p.C430S Missense 10/63 - 8
11-108121480-T-G c.1288T>G p.C430G Missense 10/63 - 1
11-108121480-TG-GC c.1288_1289delinsGC p.C430A Missense 10/63 - 1
11-108121480-TG-GT c.1288_1289delinsGT p.C430V Missense 10/63 - 1
11-108121481-G-C c.1289G>C p.C430S Missense 10/63 - 2
11-108121481-G-A c.1289G>A p.C430Y Missense 10/63 - 1
11-108121481-G-T c.1289G>T p.C430F Missense 10/63 - 1
11-108121481-TGTG-T c.1289_1291del p.C430_E431delins* MultiAAMissense 10/63 - 1
11-108121479-CTG-C c.1290_1291del p.C430* Frameshift 10/63 - 9
11-108121481-G-GT c.1290dup p.E431* Nonsense 10/63 - 1
11-108121482-T-A c.1290T>A p.C430* Nonsense 10/63 - 2
11-108121483-G-A c.1291G>A p.E431K Missense 10/63 - 3
11-108121483-G-T c.1291G>T p.E431* Nonsense 10/63 - 3
11-108121483-TG-T c.1291del p.E431Sfs*6 Frameshift 10/63 - 1
11-108121484-A-C c.1292A>C p.E431A Missense 10/63 - 1
11-108121485-G-T c.1293G>T p.E431D Missense 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
11-108121486-C-T c.1294C>T p.L432= Synonymous 10/63 - 6
11-108121488-G-A c.1296G>A p.L432= Synonymous 10/63 - 4
11-108121488-G-C c.1296G>C p.L432= Synonymous 10/63 - 4
11-108121488-G-T c.1296G>T p.L432= Synonymous 10/63 - 5
11-108121489-TC-CG c.1297_1298delinsCG p.S433R Missense 10/63 - 1
11-108121490-C-A c.1298C>A p.S433Y Missense 10/63 - 4
11-108121492-C-A c.1300C>A p.P434T Missense 10/63 - 1
11-108121492-C-G c.1300C>G p.P434A Missense 10/63 - 2
11-108121492-C-T c.1300C>T p.P434S Missense 10/63 - 3
11-108121493-C-T c.1301C>T p.P434L Missense 10/63 - 5
11-108121495-T-C c.1303T>C p.L435= Synonymous 10/63 - 1
11-108121496-T-A c.1304T>A p.L435* Nonsense 10/63 - 3
11-108121496-TA-GG c.1304_1305delinsGG p.L435W Missense 10/63 - 1
11-108121496-T-C c.1304T>C p.L435S Missense 10/63 - 1
11-108121496-T-G c.1304T>G p.L435* Nonsense 10/63 - 2
11-108121497-A-C c.1305A>C p.L435F Missense 10/63 - 1
11-108121497-A-T c.1305A>T p.L435F Missense 10/63 - 1
11-108121497-TA-T c.1305del p.L435Ffs*2 Frameshift 10/63 - 1
11-108121498-C-A c.1306C>A p.L436M Missense 10/63 - 1
11-108121499-T-A c.1307T>A p.L436Q Missense 10/63 - 2
11-108121499-T-C c.1307T>C p.L436P Missense 10/63 - 1
11-108121498-C-T c.1306C>T p.L436= Synonymous 10/63 - 1
11-108121500-G-A c.1308G>A p.L436= Synonymous 10/63 - 1
11-108121500-G-C c.1308G>C p.L436= Synonymous 10/63 - 1
11-108121500-G-T c.1308G>T p.L436= Synonymous 10/63 - 1
11-108121500-TGA-T c.1308_1309del p.M437Dfs*49 Frameshift 10/63 - 1
11-108121501-A-C c.1309A>C p.M437L Missense 10/63 - 1
11-108121501-A-T c.1309A>T p.M437L Missense 10/63 - 1
11-108121502-T-C c.1310T>C p.M437T Missense 10/63 - 1
11-108121503-G-A c.1311G>A p.M437I Missense 10/63 - 1
11-108121504-A-G c.1312A>G p.I438V Missense 10/63 - 1
11-108121504-A-T c.1312A>T p.I438L Missense 10/63 - 2
11-108121504-A-AT c.1313dup p.L439Tfs*48 Frameshift 10/63 - 1
11-108121505-T-TA c.1314dup p.L439Tfs*48 Frameshift 10/63 - 2
11-108121506-A-C c.1314A>C p.I438= Synonymous 10/63 - 1
11-108121506-A-T c.1314A>T p.I438= Synonymous 10/63 - 1
11-108121508-T-C c.1316T>C p.L439P Missense 10/63 - 1
11-108121509-A-G c.1317A>G p.L439= Synonymous 10/63 - 1
11-108121510-TC-CT c.1318_1319delinsCT p.S440L Missense 10/63 - 1
11-108121510-TC-GA c.1318_1319inv p.S440D Missense 10/63 - 1
11-108121510-T-G c.1318T>G p.S440A Missense 10/63 - 2
11-108121511-C-A c.1319C>A p.S440Y Missense 10/63 - 1
11-108121511-C-T c.1319C>T p.S440F Missense 10/63 - 2
11-108121509-ATC-A c.1320_1321del p.Q441Afs*45 Frameshift 10/63 - 2
11-108121513-C-A c.1321C>A p.Q441K Missense 10/63 - 1
11-108121513-C-G c.1321C>G p.Q441E Missense 10/63 - 2
11-108121513-C-T c.1321C>T p.Q441* Nonsense 10/63 - 6
11-108121513-TCA-T c.1321_1322del p.Q441Afs*45 Frameshift 10/63 - 2
11-108121513-C-CATA c.1322_1323insTAA p.Q441delinsHK MultiAAMissense 10/63 - 1
11-108121516-C-T c.1324C>T p.L442F Missense 10/63 - 2
11-108121517-T-C c.1325T>C p.L442P Missense 10/63 - 2
11-108121519-C-A c.1327C>A p.L443I Missense 10/63 - 2
11-108121520-T-C c.1328T>C p.L443P Missense 10/63 - 2
11-108121519-C-T c.1327C>T p.L443= Synonymous 10/63 - 1
11-108121521-A-C c.1329A>C p.L443= Synonymous 10/63 - 2
11-108121521-A-G c.1329A>G p.L443= Synonymous 10/63 - 3
11-108121521-A-T c.1329A>T p.L443= Synonymous 10/63 - 2