BRCA2

BRCA2 BRCA2 DNA repair associated

Annotation transcript: NM_000059.4

34738 unique variant annotations were identified in 6944 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
13-32889647-A-C c.-197A>C - 5_prime_UTR_variant 1/27 - 1
13-32889656-C-G c.-188C>G - 5_prime_UTR_variant 1/27 - 2
13-32889656-C-T c.-188C>T - 5_prime_UTR_variant 1/27 - 2
13-32889669-C-T c.-175C>T - 5_prime_UTR_variant 1/27 - 2
13-32889682-G-A c.-162G>A - 5_prime_UTR_variant 1/27 - 1
13-32889682-G-T c.-162G>T - 5_prime_UTR_variant 1/27 - 1
13-32889762-G-C c.-82G>C - 5_prime_UTR_variant 1/27 - 1
13-32889780-A-G c.-64A>G - 5_prime_UTR_variant 1/27 - 1
13-32889784-A-G c.-60A>G - 5_prime_UTR_variant 1/27 - 1
13-32889792-A-G c.-52A>G - 5_prime_UTR_variant 1/27 - 15
13-32889792-A-C c.-52A>C - 5_prime_UTR_variant 1/27 - 15
13-32889793-C-T c.-51C>T - 5_prime_UTR_variant 1/27 - 1
13-32889803-G-A c.-41G>A - splice_region_variant,5_prime_UTR_variant 1/27 - 1
13-32889809-G-T c.-40+5G>T - splice_donor_5th_base_variant,intron_variant - 1/26 1
13-32889811-G-A c.-40+7G>A - splice_region_variant,intron_variant - 1/26 1
13-32889811-G-T c.-40+7G>T - splice_region_variant,intron_variant - 1/26 1
13-32889829-G-C c.-40+25G>C - intron_variant - 1/26 1
13-32889968-G-A c.-40+164G>A - intron_variant - 1/26 9
13-32890026-C-A c.-40+222C>A - intron_variant - 1/26 7
13-32890026-C-T c.-40+222C>T - intron_variant - 1/26 7
13-32890227-G-A c.-39-332G>A - IntronicSNV - 1/26 8
13-32890227-G-T c.-39-332G>T - IntronicSNV - 1/26 8
13-32890443-G-A c.-39-116G>A - IntronicSNV - 1/26 1
13-32890444-G-A c.-39-115G>A - IntronicSNV - 1/26 1
13-32890445-A-G c.-39-114A>G - IntronicSNV - 1/26 1
13-32890499-T-C c.-39-60T>C - IntronicSNV - 1/26 1
13-32890523-C-G c.-39-36C>G - IntronicSNV - 1/26 1
13-32890523-C-T c.-39-36C>T - IntronicSNV - 1/26 1
13-32890555-G-T c.-39-4G>T - IntronicSNV - 1/26 2
13-32890556-C-G c.-42C>G - IntronicSNV 1/27 - 1
13-32890556-C-T c.-42C>T - IntronicSNV 1/27 - 1
13-32890557-A-G c.-39-2A>G - IntronicSNV - 1/26 1
13-32890558-G-C c.-40G>C - IntronicSNV 1/27 - 1
13-32890558-G-T c.-40G>T - IntronicSNV 1/27 - 1
13-32890558-G-A c.-39-1G>A - IntronicSNV - 1/26 1
13-32890565-T-C c.-33T>C - 5-UTRSNV 2/27 - 1
13-32890568-C-T c.-30C>T - 5-UTRSNV 2/27 - 2
13-32890571-A-G c.-27A>G - 5-UTRSNV 2/27 - 2
13-32890572-G-A c.-26G>A - 5-UTRSNV 2/27 - 52
13-32890572-G-C c.-26G>C - 5-UTRSNV 2/27 - 52
13-32890572-G-T c.-26G>T - 5-UTRSNV 2/27 - 52
13-32890575-T-C c.-23T>C - 5-UTRSNV 2/27 - 1
13-32890583-A-C c.-15A>C - 5-UTRSNV 2/27 - 5
13-32890583-A-T c.-15A>T - 5-UTRSNV 2/27 - 5
13-32890584-T-C c.-14T>C - 5-UTRSNV 2/27 - 1
13-32890586-T-C c.-12T>C - 5-UTRSNV 2/27 - 2
13-32890586-T-G c.-12T>G - 5-UTRSNV 2/27 - 2
13-32890587-C-T c.-11C>T - 5-UTRSNV 2/27 - 8
13-32890588-G-C c.-10G>C - 5-UTRSNV 2/27 - 2
13-32890589-T-C c.-9T>C - 5-UTRSNV 2/27 - 3
13-32890597-A-T c.-1A>T - 5-UTRSNV 2/27 - 1
13-32890598-A-G c.1A>G p.M1? Missense 2/27 - 15
13-32890598-A-C c.1A>C p.M1? Missense 2/27 - 3
13-32890598-A-T c.1A>T p.M1? Missense 2/27 - 2
13-32890593-T-TA c.1dup p.M1? CdsStartInsertion 2/27 - 1
13-32890593-TA-T c.1del p.M1? CdsStartDeletion 2/27 - 1
13-32890599-T-G c.2T>G p.M1? Missense 2/27 - 28
13-32890599-T-A c.2T>A p.M1? Missense 2/27 - 8
13-32890599-T-C c.2T>C p.M1? Missense 2/27 - 9
13-32890600-G-A c.3G>A p.M1? Missense 2/27 - 21
13-32890600-G-T c.3G>T p.M1? Missense 2/27 - 12
13-32890600-TG-T c.3del p.M1? CdsStartDeletion 2/27 - 5
13-32890600-G-C c.3G>C p.M1? Missense 2/27 - 2
13-32890601-C-T c.4C>T p.P2S Missense 2/27 - 3
13-32890601-GCCTATTGGATCCAAAGAGAGGCCAACATTTTTTGAAATTTTTAAGACACGCTGCAACAA-G c.4_62del p.P2Sfs*9 InFrameDeletion 2/27 - 1
13-32890601-C-A c.4C>A p.P2T Missense 2/27 - 2
13-32890601-C-G c.4C>G p.P2A Missense 2/27 - 1
13-32890602-C-T c.5C>T p.P2L Missense 2/27 - 7
13-32890600-GC-G c.5del p.P2Lfs*23 Frameshift 2/27 - 5
13-32890602-C-A c.5C>A p.P2H Missense 2/27 - 1
13-32890602-C-G c.5C>G p.P2R Missense 2/27 - 1
13-32890603-T-G c.6T>G p.P2= Synonymous 2/27 - 4
13-32890603-T-A c.6T>A p.P2= Synonymous 2/27 - 4
13-32890603-T-C c.6T>C p.P2= Synonymous 2/27 - 5
13-32890603-CT-C c.6del p.I3Lfs*22 Frameshift 2/27 - 1
13-32890604-A-G c.7A>G p.I3V Missense 2/27 - 9
13-32890604-A-T c.7A>T p.I3F Missense 2/27 - 2
13-32890603-T-TA c.7dup p.I3Nfs*11 Frameshift 2/27 - 4
13-32890604-A-C c.7A>C p.I3L Missense 2/27 - 1
13-32890605-T-C c.8T>C p.I3T Missense 2/27 - 6
13-32890605-T-A c.8T>A p.I3N Missense 2/27 - 2
13-32890605-T-G c.8T>G p.I3S Missense 2/27 - 2
13-32890606-T-C c.9T>C p.I3= Synonymous 2/27 - 2
13-32890606-T-A c.9T>A p.I3= Synonymous 2/27 - 2
13-32890606-T-G c.9T>G p.I3M Missense 2/27 - 1
13-32890607-G-T c.10G>T p.G4* Nonsense 2/27 - 12
13-32890607-G-A c.10G>A p.G4R Missense 2/27 - 2
13-32890607-G-C c.10G>C p.G4R Missense 2/27 - 1
13-32890608-G-A c.11G>A p.G4E Missense 2/27 - 8
13-32890608-G-C c.11G>C p.G4A Missense 2/27 - 9
13-32890608-G-T c.11G>T p.G4V Missense 2/27 - 4
13-32890610-T-G c.13T>G p.S5A Missense 2/27 - 3
13-32890610-T-A c.13T>A p.S5T Missense 2/27 - 1
13-32890610-T-C c.13T>C p.S5P Missense 2/27 - 2
13-32890611-C-A c.14C>A p.S5Y Missense 2/27 - 2
13-32890611-C-G c.14C>G p.S5C Missense 2/27 - 1
13-32890611-C-T c.14C>T p.S5F Missense 2/27 - 2
13-32890610-TC-T c.15del p.E7Rfs*18 Frameshift 2/27 - 3
13-32890613-A-C c.16A>C p.K6Q Missense 2/27 - 4
13-32890613-A-G c.16A>G p.K6E Missense 2/27 - 2
13-32890613-A-T c.16A>T p.K6* Nonsense 2/27 - 1
13-32890612-CAAAG-C c.17_20del p.K6Rfs*18 Frameshift 2/27 - 2
13-32890612-CAA-C c.17_18del p.K6Rfs*7 Frameshift 2/27 - 9
13-32890614-A-C c.17A>C p.K6T Missense 2/27 - 1
13-32890614-A-G c.17A>G p.K6R Missense 2/27 - 1
13-32890614-A-T c.17A>T p.K6I Missense 2/27 - 1
13-32890610-TCCAAAGAGAGG-T c.18_28del p.K6Nfs*4 Frameshift 2/27 - 1
13-32890615-A-C c.18A>C p.K6N Missense 2/27 - 1
13-32890615-A-T c.18A>T p.K6N Missense 2/27 - 1
13-32890616-G-A c.19G>A p.E7K Missense 2/27 - 4
13-32890616-G-T c.19G>T p.E7* Nonsense 2/27 - 4
13-32890616-G-C c.19G>C p.E7Q Missense 2/27 - 2
13-32890614-AAGAG-A c.20_23del p.E7Gfs*17 Frameshift 2/27 - 4
13-32890617-A-T c.20A>T p.E7V Missense 2/27 - 2
13-32890617-A-C c.20A>C p.E7A Missense 2/27 - 1
13-32890617-A-G c.20A>G p.E7G Missense 2/27 - 1
13-32890613-AAAGAGAGGCCAACATTTTTTGAAATTTTT-A c.21_49del p.E7Dfs*14 Frameshift 2/27 - 3
13-32890618-G-C c.21G>C p.E7D Missense 2/27 - 1
13-32890618-G-T c.21G>T p.E7D Missense 2/27 - 1
13-32890614-AAG-A c.22_23del p.R8Afs*5 Frameshift 2/27 - 12
13-32890619-A-G c.22A>G p.R8G Missense 2/27 - 3
13-32890619-A-T c.22A>T p.R8W Missense 2/27 - 1
13-32890620-AGGC-A c.23_25del p.R8_P9delinsT MultiAAMissense 2/27 - 1
13-32890620-G-A c.23G>A p.R8K Missense 2/27 - 1
13-32890620-G-C c.23G>C p.R8T Missense 2/27 - 2
13-32890620-G-T c.23G>T p.R8M Missense 2/27 - 2
13-32890619-AGGCCAACATTTTTT-A c.24_37del p.P9Nfs*3 Frameshift 2/27 - 1
13-32890621-GGCCA-G c.24_27del p.P9Hfs*15 Frameshift 2/27 - 1
13-32890621-G-A c.24G>A p.R8= Synonymous 2/27 - 1
13-32890621-G-C c.24G>C p.R8S Missense 2/27 - 1
13-32890621-G-T c.24G>T p.R8S Missense 2/27 - 1
13-32890622-C-T c.25C>T p.P9S Missense 2/27 - 2
13-32890622-C-A c.25C>A p.P9T Missense 2/27 - 1
13-32890622-C-G c.25C>G p.P9A Missense 2/27 - 1
13-32890623-C-T c.26C>T p.P9L Missense 2/27 - 6
13-32890621-GC-G c.26del p.P9Qfs*16 Frameshift 2/27 - 14
13-32890623-C-G c.26C>G p.P9R Missense 2/27 - 5
13-32890623-C-A c.26C>A p.P9Q Missense 2/27 - 2
13-32890624-A-G c.27A>G p.P9= Synonymous 2/27 - 2
13-32890625-A-G c.28A>G p.T10A Missense 2/27 - 12
13-32890625-A-C c.28A>C p.T10P Missense 2/27 - 6
13-32890625-A-T c.28A>T p.T10S Missense 2/27 - 3
13-32890625-AC-GA c.28_29delinsGA p.T10E Missense 2/27 - 2
13-32890626-C-A c.29C>A p.T10K Missense 2/27 - 9
13-32890626-C-T c.29C>T p.T10I Missense 2/27 - 9
13-32890626-C-G c.29C>G p.T10R Missense 2/27 - 3
13-32890628-TT-AA c.31_32inv p.F11N Missense 2/27 - 3
13-32890628-TT-CG c.31_32delinsCG p.F11R Missense 2/27 - 20
13-32890628-T-C c.31T>C p.F11L Missense 2/27 - 4
13-32890630-T-A c.33T>A p.F11L Missense 2/27 - 4
13-32890630-T-G c.33T>G p.F11L Missense 2/27 - 7
13-32890628-T-G c.31T>G p.F11V Missense 2/27 - 7
13-32890628-TT-CA c.31_32delinsCA p.F11H Missense 2/27 - 1
13-32890628-T-A c.31T>A p.F11I Missense 2/27 - 4
13-32890628-TT-GC c.31_32delinsGC p.F11A Missense 2/27 - 1
13-32890629-TT-A c.32_33delinsA p.F11Yfs*14 Frameshift 2/27 - 1
13-32890629-T-A c.32T>A p.F11Y Missense 2/27 - 4
13-32890629-T-C c.32T>C p.F11S Missense 2/27 - 5
13-32890629-T-G c.32T>G p.F11C Missense 2/27 - 3
13-32890631-T-G c.34T>G p.F12V Missense 2/27 - 11
13-32890631-TTT-AAG c.34_36delinsAAG p.F12K Missense 2/27 - 13
13-32890631-TT-GC c.34_35delinsGC p.F12A Missense 2/27 - 1
13-32890631-T-A c.34T>A p.F12I Missense 2/27 - 3
13-32890631-T-C c.34T>C p.F12L Missense 2/27 - 4
13-32890632-T-C c.35T>C p.F12S Missense 2/27 - 7
13-32890632-T-A c.35T>A p.F12Y Missense 2/27 - 3
13-32890632-T-G c.35T>G p.F12C Missense 2/27 - 3
13-32890627-ATT-A c.35_36del p.F12* Frameshift 2/27 - 1
13-32890627-AT-A c.36del p.F12Lfs*13 Frameshift 2/27 - 13
13-32890627-A-AT c.36dup p.E13* Nonsense 2/27 - 14
13-32890633-T-A c.36T>A p.F12L Missense 2/27 - 4
13-32890633-T-G c.36T>G p.F12L Missense 2/27 - 4
13-32890633-T-TTAA c.36_37insTAA p.F12_E13ins* InFrameInsertion 2/27 - 2
13-32890634-G-T c.37G>T p.E13* Nonsense 2/27 - 13
13-32890634-TG-T c.37del p.E13Kfs*12 Frameshift 2/27 - 1
13-32890634-G-A c.37G>A p.E13K Missense 2/27 - 11
13-32890629-TTTTTGAAA-T c.37_44del p.E13* Frameshift 2/27 - 6
13-32890634-G-GT c.37_38insT p.E13Vfs*4 Frameshift 2/27 - 5
13-32890634-G-C c.37G>C p.E13Q Missense 2/27 - 4
13-32890634-GA-TC c.37_38inv p.E13S Missense 2/27 - 1
13-32890634-GA-AG c.37_38delinsAG p.E13R Missense 2/27 - 1
13-32890635-A-G c.38A>G p.E13G Missense 2/27 - 5
13-32890635-A-C c.38A>C p.E13A Missense 2/27 - 4
13-32890635-A-T c.38A>T p.E13V Missense 2/27 - 3
13-32890636-A-C c.39A>C p.E13D Missense 2/27 - 7
13-32890636-A-T c.39A>T p.E13D Missense 2/27 - 4
13-32890637-A-G c.40A>G p.I14V Missense 2/27 - 8
13-32890637-A-C c.40A>C p.I14L Missense 2/27 - 3
13-32890637-A-T c.40A>T p.I14F Missense 2/27 - 4
13-32890637-AT-GC c.40_41delinsGC p.I14A Missense 2/27 - 1
13-32890638-T-C c.41T>C p.I14T Missense 2/27 - 4
13-32890638-T-G c.41T>G p.I14S Missense 2/27 - 4
13-32890638-T-A c.41T>A p.I14N Missense 2/27 - 8
13-32890638-TT-GG c.41_42delinsGG p.I14R Missense 2/27 - 1
13-32890636-AATTTTTAAGACACGCTGCAACAAAGCAGGTATTGAC-A c.41_67+9del - SpliceDonorDeletion 2/27 2/26 1
13-32890639-T-G c.42T>G p.I14M Missense 2/27 - 6
13-32890640-TT-GA c.43_44delinsGA p.F15D Missense 2/27 - 1
13-32890638-T-TTTA c.43_44insATT p.I14_F15insY InFrameInsertion 2/27 - 1
13-32890640-T-C c.43T>C p.F15L Missense 2/27 - 7
13-32890637-ATTT-A c.43_45del p.F15del InFrameDeletion 2/27 - 2
13-32890640-T-A c.43T>A p.F15I Missense 2/27 - 3
13-32890640-T-G c.43T>G p.F15V Missense 2/27 - 3
13-32890641-T-C c.44T>C p.F15S Missense 2/27 - 4
13-32890639-T-TTTA c.44_45insATT p.I14_F15insL InFrameInsertion 2/27 - 6
13-32890641-TT-AA c.44_45inv p.F15* Nonsense 2/27 - 1
13-32890641-T-A c.44T>A p.F15Y Missense 2/27 - 3
13-32890641-T-G c.44T>G p.F15C Missense 2/27 - 4
13-32890642-T-A c.45T>A p.F15L Missense 2/27 - 3
13-32890642-T-G c.45T>G p.F15L Missense 2/27 - 3
13-32890640-T-TTTC c.45_46insCTT p.F15_K16insL InFrameInsertion 2/27 - 1
13-32890637-AT-A c.45del p.F15Lfs*10 Frameshift 2/27 - 2
13-32890643-AA-GC c.46_47delinsGC p.K16A Missense 2/27 - 1
13-32890643-A-G c.46A>G p.K16E Missense 2/27 - 5
13-32890643-A-T c.46A>T p.K16* Nonsense 2/27 - 2
13-32890643-A-C c.46A>C p.K16Q Missense 2/27 - 3
13-32890644-AAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAATTACACCG-A c.50_67+41del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/27 2/26 1
13-32890644-A-G c.47A>G p.K16R Missense 2/27 - 9
13-32890644-A-C c.47A>C p.K16T Missense 2/27 - 3
13-32890644-A-T c.47A>T p.K16M Missense 2/27 - 3
13-32890644-A-AG c.48dup p.T17Dfs*14 Frameshift 2/27 - 4
13-32890645-G-C c.48G>C p.K16N Missense 2/27 - 3
13-32890645-G-T c.48G>T p.K16N Missense 2/27 - 3
13-32890645-GAC-ATCGATCGAT c.48_50delinsATCGATCGAT p.T17Sfs*16 Frameshift 2/27 - 2
13-32890645-AGAC-A c.48_50del p.T17del InFrameDeletion 2/27 - 1
13-32890646-A-C c.49A>C p.T17P Missense 2/27 - 3
13-32890646-A-G c.49A>G p.T17A Missense 2/27 - 4
13-32890646-A-T c.49A>T p.T17S Missense 2/27 - 4
13-32890646-ACA-GAC c.49_51delinsGAC p.T17D Missense 2/27 - 1
13-32890647-C-T c.50C>T p.T17I Missense 2/27 - 8
13-32890647-C-A c.50C>A p.T17K Missense 2/27 - 3
13-32890647-C-G c.50C>G p.T17R Missense 2/27 - 3
13-32890645-GAC-G c.51_52del p.R18Lfs*12 Frameshift 2/27 - 12
13-32890647-C-CA c.51dup p.R18Tfs*13 Frameshift 2/27 - 8
13-32890648-A-G c.51A>G p.T17= Synonymous 2/27 - 1
13-32890648-A-T c.51A>T p.T17= Synonymous 2/27 - 1
13-32890648-A-C c.51A>C p.T17= Synonymous 2/27 - 1
13-32890649-C-T c.52C>T p.R18C Missense 2/27 - 16
13-32890649-C-CA c.52_53insA p.R18Qfs*13 Frameshift 2/27 - 1
13-32890645-GACACGCTGCA-G c.52_61del p.R18Kfs*4 Frameshift 2/27 - 5
13-32890649-C-A c.52C>A p.R18S Missense 2/27 - 5
13-32890649-C-G c.52C>G p.R18G Missense 2/27 - 6
13-32890649-CGC-TGA c.52_54delinsTGA p.R18* Nonsense 2/27 - 1
13-32890649-CGC-TGG c.52_54delinsTGG p.R18W Missense 2/27 - 1
13-32890649-CGC-AAG c.52_54delinsAAG p.R18K Missense 2/27 - 1
13-32890650-G-A c.53G>A p.R18H Missense 2/27 - 41
13-32890650-G-C c.53G>C p.R18P Missense 2/27 - 5
13-32890650-G-T c.53G>T p.R18L Missense 2/27 - 3
13-32890650-GC-AA c.53_54delinsAA p.R18Q Missense 2/27 - 1
13-32890651-C-G c.54C>G p.R18= Synonymous 2/27 - 1
13-32890652-T-A c.55T>A p.C19S Missense 2/27 - 4
13-32890652-T-C c.55T>C p.C19R Missense 2/27 - 3
13-32890652-T-G c.55T>G p.C19G Missense 2/27 - 3
13-32890652-TGC-GAG c.55_57delinsGAG p.C19E Missense 2/27 - 1
13-32890653-G-A c.56G>A p.C19Y Missense 2/27 - 10
13-32890653-G-T c.56G>T p.C19F Missense 2/27 - 7
13-32890653-G-C c.56G>C p.C19S Missense 2/27 - 4
13-32890654-C-T c.57C>T p.C19= Synonymous 2/27 - 2
13-32890654-C-A c.57C>A p.C19* Nonsense 2/27 - 4
13-32890654-C-G c.57C>G p.C19W Missense 2/27 - 5
13-32890655-A-G c.58A>G p.N20D Missense 2/27 - 5
13-32890655-AAC-TAA c.58_60delinsTAA p.N20* Nonsense 2/27 - 1
13-32890655-A-AGCTTGCAGTGAGCCGAGATCGCGCC c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC p.N20Sfs*4 Frameshift 2/27 - 1
13-32890655-A-C c.58A>C p.N20H Missense 2/27 - 3
13-32890655-A-T c.58A>T p.N20Y Missense 2/27 - 3
13-32890654-C-CA c.59dup p.N20Kfs*11 Frameshift 2/27 - 1
13-32890656-A-G c.59A>G p.N20S Missense 2/27 - 9
13-32890656-A-C c.59A>C p.N20T Missense 2/27 - 3
13-32890656-A-T c.59A>T p.N20I Missense 2/27 - 3
13-32890653-GCAA-G c.60_62del p.N20del InFrameDeletion 2/27 - 2
13-32890657-C-T c.60C>T p.N20= Synonymous 2/27 - 1
13-32890657-C-A c.60C>A p.N20K Missense 2/27 - 4
13-32890657-C-G c.60C>G p.N20K Missense 2/27 - 4
13-32890658-A-C c.61A>C p.K21Q Missense 2/27 - 4
13-32890658-A-G c.61A>G p.K21E Missense 2/27 - 3
13-32890658-A-T c.61A>T p.K21* Nonsense 2/27 - 1
13-32890659-A-G c.62A>G p.K21R Missense 2/27 - 17
13-32890659-A-C c.62A>C p.K21T Missense 2/27 - 4
13-32890659-A-T c.62A>T p.K21I Missense 2/27 - 3
13-32890660-A-G c.63A>G p.K21= Synonymous 2/27 - 3
13-32890657-CA-C c.63del p.A22Qfs*3 Frameshift 2/27 - 6
13-32890660-A-C c.63A>C p.K21N Missense 2/27 - 3
13-32890660-A-T c.63A>T p.K21N Missense 2/27 - 3
13-32890661-GC-CT c.64_65delinsCT p.A22L Missense 2/27 - 3
13-32890661-GC-TA c.64_65delinsTA p.A22* Nonsense 2/27 - 1
13-32890661-GCA-CAT c.64_66delinsCAT p.A22H Missense 2/27 - 6
13-32890661-GCA-TTT c.64_66delinsTTT p.A22F Missense 2/27 - 2
13-32890661-GC-AT c.64_65delinsAT p.A22I Missense 2/27 - 4
13-32890661-G-C c.64G>C p.A22P Missense 2/27 - 8
13-32890661-G-A c.64G>A p.A22T Missense 2/27 - 5
13-32890661-G-T c.64G>T p.A22S Missense 2/27 - 3
13-32890661-GC-AA c.64_65delinsAA p.A22K Missense 2/27 - 1
13-32890661-GC-CA c.64_65delinsCA p.A22Q Missense 2/27 - 1
13-32890661-GCA-ATG c.64_66delinsATG p.A22M Missense 2/27 - 1
13-32890661-GCA-AAC c.64_66delinsAAC p.A22N Missense 2/27 - 1
13-32890661-AGC-A c.64_65del p.A22Rfs*8 Frameshift 2/27 - 1
13-32890661-GC-AG c.64_65delinsAG p.A22R Missense 2/27 - 1
13-32890662-CA-AC c.65_66delinsAC p.A22D Missense 2/27 - 7
13-32890662-C-T c.65C>T p.A22V Missense 2/27 - 8
13-32890662-C-G c.65C>G p.A22G Missense 2/27 - 9
13-32890662-C-A c.65C>A p.A22E Missense 2/27 - 10
13-32890663-CAG-C c.66_67del p.D23Ffs*7 SpliceDonorDeletion 2/27 - 11
13-32890662-C-CA c.66dup p.D23Rfs*8 SpliceDonorInsertion 2/27 - 14
13-32890663-A-C c.66A>C p.A22= Synonymous 2/27 - 3
13-32890663-A-G c.66A>G p.A22= Synonymous 2/27 - 3
13-32890663-A-T c.66A>T p.A22= Synonymous 2/27 - 5
13-32890664-G-T c.67G>T p.D23Y Missense 2/27 - 16
13-32890664-G-A c.67G>A p.D23N Missense 2/27 - 14
13-32890664-G-C c.67G>C p.D23H Missense 2/27 - 5
13-32890665-G-A c.67+1G>A - IntronicSNV - 2/26 24
13-32890665-G-T c.67+1G>T - IntronicSNV - 2/26 12
13-32890665-G-C c.67+1G>C - IntronicSNV - 2/26 9
13-32890663-AG-A c.67+1del - IntronicDeletion - 2/26 4
13-32890666-T-C c.67+2T>C - IntronicSNV - 2/26 19
13-32890666-T-A c.67+2T>A - IntronicSNV - 2/26 6
13-32890666-T-G c.67+2T>G - IntronicSNV - 2/26 3
13-32890666-GT-G c.67+2del - IntronicDeletion - 2/26 3
13-32890667-A-G c.67+3A>G - IntronicSNV - 2/26 13
13-32890668-T-C c.67+4T>C - IntronicSNV - 2/26 5
13-32890669-T-A c.67+5T>A - IntronicSNV - 2/26 1
13-32890672-C-T c.67+8C>T - IntronicSNV - 2/26 1
13-32890672-C-G c.67+8C>G - IntronicSNV - 2/26 1
13-32890678-T-C c.67+14T>C - IntronicSNV - 2/26 2
13-32890679-T-C c.67+15T>C - IntronicSNV - 2/26 2
13-32890680-A-G c.67+16A>G - IntronicSNV - 2/26 1
13-32890680-A-T c.67+16A>T - IntronicSNV - 2/26 2
13-32890681-T-C c.67+17T>C - IntronicSNV - 2/26 3
13-32890683-T-C c.67+19T>C - IntronicSNV - 2/26 1
13-32890689-T-C c.67+25T>C - IntronicSNV - 2/26 1
13-32890704-G-A c.67+40G>A - IntronicSNV - 2/26 1
13-32890706-A-T c.67+42A>T - IntronicSNV - 2/26 1
13-32890708-G-A c.67+44G>A - IntronicSNV - 2/26 1
13-32890721-A-C c.67+57A>C - IntronicSNV - 2/26 1
13-32890722-A-C c.67+58A>C - IntronicSNV - 2/26 1
13-32890726-T-G c.67+62T>G - IntronicSNV - 2/26 5
13-32890746-C-G c.67+82C>G - IntronicSNV - 2/26 5
13-32890754-T-A c.67+90T>A - IntronicSNV - 2/26 1
13-32890769-A-G c.67+105A>G - IntronicSNV - 2/26 1
13-32890985-T-C c.67+321T>C - IntronicSNV - 2/26 1
13-32891042-T-C c.67+378T>C - IntronicSNV - 2/26 1
13-32891042-T-G c.67+378T>G - IntronicSNV - 2/26 1
13-32891672-T-C c.67+1008T>C - IntronicSNV - 2/26 1
13-32891706-A-C c.67+1042A>C - IntronicSNV - 2/26 3
13-32891706-A-G c.67+1042A>G - IntronicSNV - 2/26 4
13-32891798-T-C c.67+1134T>C - IntronicSNV - 2/26 4
13-32891816-CAGAAAAGTCTTTTAAGATTGGGTAGAAATGAGCCACTGGAAATTCTAATTTTCATTTGA-C c.67+1154_67+1212del - Unclassified - 2/26 2
13-32892217-C-G c.68-997C>G - IntronicSNV - 2/26 2
13-32892217-C-T c.68-997C>T - IntronicSNV - 2/26 2
13-32892735-T-C c.68-479T>C - IntronicSNV - 2/26 1
13-32892735-T-G c.68-479T>G - IntronicSNV - 2/26 1
13-32892760-A-C c.68-454A>C - IntronicSNV - 2/26 1
13-32892820-T-C c.68-394T>C - IntronicSNV - 2/26 1
13-32893198-T-A c.68-16T>A - IntronicSNV - 2/26 2
13-32893207-T-A c.68-7T>A - IntronicSNV - 2/26 10
13-32893209-A-G c.68-5A>G - IntronicSNV - 2/26 1
13-32893211-T-G c.68-3T>G - IntronicSNV - 2/26 1
13-32893212-A-G c.68-2A>G - IntronicSNV - 2/26 1
13-32893213-G-A c.68-1G>A - IntronicSNV - 2/26 1
13-32893213-G-C c.68-1G>C - IntronicSNV - 2/26 1
13-32893213-G-T c.68-1G>T - IntronicSNV - 2/26 1
13-32893214-GAT-G c.68_69del p.D23Vfs*7 SpliceAcceptorDeletion 3/27 - 14
13-32893214-GATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTAT-G c.69_127del p.D23Efs*3 Unclassified 3/27 - 5
13-32893214-A-C c.68A>C p.D23A Missense 3/27 - 4
13-32893214-A-G c.68A>G p.D23G Missense 3/27 - 10
13-32893214-A-T c.68A>T p.D23V Missense 3/27 - 6
13-32893215-T-TAG c.69_70insAG p.L24Sfs*2 SpliceAcceptorInsertion 3/27 - 1
13-32893215-T-A c.69T>A p.D23E Missense 3/27 - 3
13-32893215-T-G c.69T>G p.D23E Missense 3/27 - 3
13-32893215-T-C c.69T>C p.D23= Synonymous 3/27 - 1
13-32893213-GATTTAGGACCA-G c.70_80del p.L24Kfs*3 Frameshift 3/27 - 1
13-32893216-T-A c.70T>A p.L24I Missense 3/27 - 3
13-32893216-T-G c.70T>G p.L24V Missense 3/27 - 4
13-32893216-TT-GC c.70_71delinsGC p.L24A Missense 3/27 - 1
13-32893217-T-A c.71T>A p.L24* Nonsense 3/27 - 5
13-32893216-T-TTGTC c.71_72insGTCT p.G25Sfs*7 Frameshift 3/27 - 1
13-32893217-T-G c.71T>G p.L24* Nonsense 3/27 - 8
13-32893214-ATTTAGGACCAATAAGTCTTAATTGGT-A c.71_96del p.L24* SpliceAcceptorDeletion 3/27 - 6
13-32893214-AT-A c.71del p.L24* Frameshift 3/27 - 6
13-32893217-T-C c.71T>C p.L24S Missense 3/27 - 5
13-32893218-A-T c.72A>T p.L24F Missense 3/27 - 8
13-32893218-TA-T c.72del p.G25Dfs*3 Frameshift 3/27 - 4
13-32893218-A-C c.72A>C p.L24F Missense 3/27 - 4
13-32893218-AGGACCAATAAGTC-TTTAAATAGAT c.72_85delinsTTTAAATAGAT p.L24_L29delinsFLNRF MultiAAMissense 3/27 - 1
13-32893219-G-A c.73G>A p.G25R Missense 3/27 - 29
13-32893219-G-C c.73G>C p.G25R Missense 3/27 - 14
13-32893219-G-T c.73G>T p.G25* Nonsense 3/27 - 8
13-32893219-G-GAA c.73_74insAA p.G25Efs*4 Frameshift 3/27 - 1
13-32893219-GG-AC c.73_74delinsAC p.G25T Missense 3/27 - 1
13-32893219-AGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTC-A c.73_118del p.G25Hfs*40 Frameshift 3/27 - 1
13-32893220-G-T c.74G>T p.G25V Missense 3/27 - 7
13-32893220-G-A c.74G>A p.G25E Missense 3/27 - 8
13-32893220-G-C c.74G>C p.G25A Missense 3/27 - 3
13-32893221-A-T c.75A>T p.G25= Synonymous 3/27 - 1
13-32893221-A-G c.75A>G p.G25= Synonymous 3/27 - 2
13-32893221-A-C c.75A>C p.G25= Synonymous 3/27 - 1
13-32893221-GA-G c.75del p.P26Qfs*2 Frameshift 3/27 - 1
13-32893222-C-A c.76C>A p.P26T Missense 3/27 - 5
13-32893222-C-T c.76C>T p.P26S Missense 3/27 - 6
13-32893222-C-G c.76C>G p.P26A Missense 3/27 - 3
13-32893223-C-T c.77C>T p.P26L Missense 3/27 - 9
13-32893223-C-A c.77C>A p.P26Q Missense 3/27 - 3
13-32893223-C-G c.77C>G p.P26R Missense 3/27 - 3
13-32893224-A-G c.78A>G p.P26= Synonymous 3/27 - 6
13-32893224-A-T c.78A>T p.P26= Synonymous 3/27 - 3
13-32893224-A-C c.78A>C p.P26= Synonymous 3/27 - 2
13-32893225-A-C c.79A>C p.I27L Missense 3/27 - 5
13-32893225-A-T c.79A>T p.I27L Missense 3/27 - 4
13-32893225-ATA-TGT c.79_81delinsTGT p.I27C Missense 3/27 - 1
13-32893225-A-G c.79A>G p.I27V Missense 3/27 - 21
13-32893223-C-CA c.79dup p.I27Nfs*4 Frameshift 3/27 - 1
13-32893226-T-G c.80T>G p.I27R Missense 3/27 - 4
13-32893226-T-A c.80T>A p.I27K Missense 3/27 - 3
13-32893226-T-C c.80T>C p.I27T Missense 3/27 - 4
13-32893223-CAAT-C c.80_82del p.I27del InFrameDeletion 3/27 - 2
13-32893227-A-G c.81A>G p.I27M Missense 3/27 - 7
13-32893227-AAG-TAAGACT c.81_83delinsTAAGACT p.S28Kfs*4 Frameshift 3/27 - 3
13-32893228-AG-CT c.82_83inv p.S28L Missense 3/27 - 1
13-32893228-AAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGC-A c.84_142del p.S28Rfs*4 InFrameDeletion 3/27 - 3
13-32893228-A-G c.82A>G p.S28G Missense 3/27 - 7
13-32893228-A-C c.82A>C p.S28R Missense 3/27 - 4
13-32893228-A-T c.82A>T p.S28C Missense 3/27 - 3
13-32893228-AG-GC c.82_83delinsGC p.S28A Missense 3/27 - 1
13-32893228-AG-CC c.82_83delinsCC p.S28P Missense 3/27 - 1
13-32893229-G-A c.83G>A p.S28N Missense 3/27 - 10
13-32893229-G-C c.83G>C p.S28T Missense 3/27 - 4
13-32893229-AGT-A c.83_84del p.S28Tfs*2 Frameshift 3/27 - 1
13-32893229-G-T c.83G>T p.S28I Missense 3/27 - 3
13-32893229-GT-AG c.83_84delinsAG p.S28K Missense 3/27 - 1
13-32893230-T-A c.84T>A p.S28R Missense 3/27 - 4
13-32893230-T-G c.84T>G p.S28R Missense 3/27 - 3
13-32893231-C-T c.85C>T p.L29F Missense 3/27 - 6
13-32893231-C-G c.85C>G p.L29V Missense 3/27 - 11
13-32893231-C-A c.85C>A p.L29I Missense 3/27 - 5
13-32893232-CTT-C c.86_87del p.L29Qfs*4 Frameshift 3/27 - 7
13-32893232-T-G c.86T>G p.L29R Missense 3/27 - 6
13-32893232-T-A c.86T>A p.L29H Missense 3/27 - 3
13-32893232-T-C c.86T>C p.L29P Missense 3/27 - 3
13-32893234-A-G c.88A>G p.N30D Missense 3/27 - 7
13-32893234-A-C c.88A>C p.N30H Missense 3/27 - 7
13-32893234-A-T c.88A>T p.N30Y Missense 3/27 - 3
13-32893233-T-TA c.89dup p.N30Kfs*4 Frameshift 3/27 - 1
13-32893235-A-C c.89A>C p.N30T Missense 3/27 - 3
13-32893235-A-G c.89A>G p.N30S Missense 3/27 - 3
13-32893235-A-T c.89A>T p.N30I Missense 3/27 - 3
13-32893236-T-C c.90T>C p.N30= Synonymous 3/27 - 4
13-32893236-T-A c.90T>A p.N30K Missense 3/27 - 4
13-32893236-T-G c.90T>G p.N30K Missense 3/27 - 4
13-32893237-T-C c.91T>C p.W31R Missense 3/27 - 21
13-32893237-T-G c.91T>G p.W31G Missense 3/27 - 16
13-32893237-T-A c.91T>A p.W31R Missense 3/27 - 10
13-32893235-AT-A c.91del p.W31Gfs*49 Frameshift 3/27 - 4
13-32893237-TG-AC c.91_92delinsAC p.W31T Missense 3/27 - 1
13-32893238-G-A c.92G>A p.W31* Nonsense 3/27 - 27
13-32893238-G-T c.92G>T p.W31L Missense 3/27 - 14
13-32893238-G-C c.92G>C p.W31S Missense 3/27 - 5
13-32893235-ATTGGTTTGAAGAACT-A c.92_106del p.W31_L35del InFrameDeletion 3/27 - 3
13-32893239-G-A c.93G>A p.W31* Nonsense 3/27 - 23
13-32893239-G-T c.93G>T p.W31C Missense 3/27 - 34
13-32893239-G-C c.93G>C p.W31C Missense 3/27 - 19
13-32893237-TG-T c.93del p.W31Cfs*49 Frameshift 3/27 - 1
13-32893240-T-C c.94T>C p.F32L Missense 3/27 - 12
13-32893242-T-A c.96T>A p.F32L Missense 3/27 - 7
13-32893242-T-G c.96T>G p.F32L Missense 3/27 - 11
13-32893240-T-A c.94T>A p.F32I Missense 3/27 - 3
13-32893240-T-G c.94T>G p.F32V Missense 3/27 - 3
13-32893240-TT-GG c.94_95delinsGG p.F32G Missense 3/27 - 1
13-32893241-T-A c.95T>A p.F32Y Missense 3/27 - 3
13-32893241-T-C c.95T>C p.F32S Missense 3/27 - 4
13-32893241-T-G c.95T>G p.F32C Missense 3/27 - 4
13-32893242-T-C c.96T>C p.F32= Synonymous 3/27 - 1
13-32893239-GT-G c.96del p.F32Lfs*48 Frameshift 3/27 - 1
13-32893243-G-A c.97G>A p.E33K Missense 3/27 - 8
13-32893243-G-T c.97G>T p.E33* Nonsense 3/27 - 12
13-32893243-G-C c.97G>C p.E33Q Missense 3/27 - 3
13-32893243-TG-T c.97del p.E33Kfs*47 Frameshift 3/27 - 1
13-32893244-A-C c.98A>C p.E33A Missense 3/27 - 4
13-32893244-A-G c.98A>G p.E33G Missense 3/27 - 3
13-32893244-A-T c.98A>T p.E33V Missense 3/27 - 3
13-32893243-G-GA c.99dup p.E34Rfs*10 Frameshift 3/27 - 1
13-32893245-A-G c.99A>G p.E33= Synonymous 3/27 - 1
13-32893243-GA-G c.99del p.E34Nfs*46 Frameshift 3/27 - 1
13-32893245-A-C c.99A>C p.E33D Missense 3/27 - 3
13-32893245-A-T c.99A>T p.E33D Missense 3/27 - 3
13-32893246-G-T c.100G>T p.E34* Nonsense 3/27 - 16
13-32893246-G-A c.100G>A p.E34K Missense 3/27 - 8
13-32893246-G-C c.100G>C p.E34Q Missense 3/27 - 4
13-32893247-A-G c.101A>G p.E34G Missense 3/27 - 4
13-32893247-A-C c.101A>C p.E34A Missense 3/27 - 3
13-32893247-A-T c.101A>T p.E34V Missense 3/27 - 3
13-32893248-A-C c.102A>C p.E34D Missense 3/27 - 3
13-32893248-A-T c.102A>T p.E34D Missense 3/27 - 3
13-32893248-A-G c.102A>G p.E34= Synonymous 3/27 - 1
13-32893249-C-T c.103C>T p.L35F Missense 3/27 - 14
13-32893248-A-AC c.103dup p.L35Pfs*9 Frameshift 3/27 - 4
13-32893249-C-A c.103C>A p.L35I Missense 3/27 - 3
13-32893249-C-G c.103C>G p.L35V Missense 3/27 - 3
13-32893249-CT-GC c.103_104delinsGC p.L35A Missense 3/27 - 1
13-32893250-T-C c.104T>C p.L35P Missense 3/27 - 6
13-32893248-ACTTTCTT-A c.104_110del p.L35Qfs*43 Frameshift 3/27 - 5
13-32893250-T-A c.104T>A p.L35H Missense 3/27 - 3
13-32893250-T-G c.104T>G p.L35R Missense 3/27 - 3
13-32893252-T-C c.106T>C p.S36P Missense 3/27 - 4
13-32893252-TC-AA c.106_107delinsAA p.S36N Missense 3/27 - 1
13-32893249-C-CT c.106dup p.S36Ffs*8 Frameshift 3/27 - 5
13-32893248-ACTTT-A c.106_109del p.S36Qfs*43 Frameshift 3/27 - 4
13-32893252-T-A c.106T>A p.S36T Missense 3/27 - 4
13-32893252-T-G c.106T>G p.S36A Missense 3/27 - 3
13-32893252-TC-CG c.106_107delinsCG p.S36R Missense 3/27 - 1
13-32893252-TCT-CAA c.106_108delinsCAA p.S36Q Missense 3/27 - 1
13-32893249-CT-C c.106del p.S36Lfs*44 Frameshift 3/27 - 1
13-32893253-C-T c.107C>T p.S36F Missense 3/27 - 11
13-32893253-C-A c.107C>A p.S36Y Missense 3/27 - 7
13-32893253-C-G c.107C>G p.S36C Missense 3/27 - 3
13-32893255-TTCAG-T c.109_112del p.S37Kfs*42 Frameshift 3/27 - 4
13-32893255-T-G c.109T>G p.S37A Missense 3/27 - 7
13-32893255-T-A c.109T>A p.S37T Missense 3/27 - 3
13-32893255-T-C c.109T>C p.S37P Missense 3/27 - 3
13-32893255-TC-AA c.109_110delinsAA p.S37K Missense 3/27 - 1
13-32893256-CA-GT c.110_111delinsGT p.S37C Missense 3/27 - 1
13-32893256-C-T c.110C>T p.S37L Missense 3/27 - 4
13-32893256-C-A c.110C>A p.S37* Nonsense 3/27 - 9
13-32893256-C-G c.110C>G p.S37* Nonsense 3/27 - 11
13-32893256-CA-TT c.110_111delinsTT p.S37F Missense 3/27 - 2
13-32893258-G-A c.112G>A p.E38K Missense 3/27 - 19
13-32893258-G-T c.112G>T p.E38* Nonsense 3/27 - 3
13-32893258-G-C c.112G>C p.E38Q Missense 3/27 - 4
13-32893259-A-C c.113A>C p.E38A Missense 3/27 - 3
13-32893259-A-G c.113A>G p.E38G Missense 3/27 - 3
13-32893259-A-T c.113A>T p.E38V Missense 3/27 - 3
13-32893260-A-G c.114A>G p.E38= Synonymous 3/27 - 1
13-32893260-A-C c.114A>C p.E38D Missense 3/27 - 3
13-32893260-A-T c.114A>T p.E38D Missense 3/27 - 3
13-32893261-AG-A c.115del p.A39Lfs*41 Frameshift 3/27 - 8
13-32893261-GC-TG c.115_116delinsTG p.A39C Missense 3/27 - 1
13-32893261-G-A c.115G>A p.A39T Missense 3/27 - 4
13-32893261-G-C c.115G>C p.A39P Missense 3/27 - 5
13-32893261-G-T c.115G>T p.A39S Missense 3/27 - 5
13-32893261-GC-CG c.115_116delinsCG p.A39R Missense 3/27 - 2
13-32893261-GC-AT c.115_116delinsAT p.A39I Missense 3/27 - 1
13-32893261-GC-AA c.115_116delinsAA p.A39N Missense 3/27 - 2
13-32893261-GCT-AAG c.115_117delinsAAG p.A39K Missense 3/27 - 2
13-32893261-GC-CT c.115_116delinsCT p.A39L Missense 3/27 - 2
13-32893261-GCT-ATG c.115_117delinsATG p.A39M Missense 3/27 - 2
13-32893262-C-T c.116C>T p.A39V Missense 3/27 - 15
13-32893262-C-A c.116C>A p.A39D Missense 3/27 - 4
13-32893262-C-G c.116C>G p.A39G Missense 3/27 - 3
13-32893263-T-A c.117T>A p.A39= Synonymous 3/27 - 2
13-32893263-T-C c.117T>C p.A39= Synonymous 3/27 - 2
13-32893263-T-G c.117T>G p.A39= Synonymous 3/27 - 2
13-32893264-CCA-AAC c.118_120delinsAAC p.P40N Missense 3/27 - 1
13-32893264-C-T c.118C>T p.P40S Missense 3/27 - 4
13-32893264-C-G c.118C>G p.P40A Missense 3/27 - 4
13-32893264-C-A c.118C>A p.P40T Missense 3/27 - 4
13-32893265-C-A c.119C>A p.P40Q Missense 3/27 - 3
13-32893265-C-G c.119C>G p.P40R Missense 3/27 - 3
13-32893265-C-T c.119C>T p.P40L Missense 3/27 - 4
13-32893265-CA-AT c.119_120delinsAT p.P40H Missense 3/27 - 1
13-32893265-CCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCA-C c.119_177del p.P40Qfs*4 Frameshift 3/27 - 1
13-32893266-A-G c.120A>G p.P40= Synonymous 3/27 - 2
13-32893265-C-CA c.120dup p.P41Tfs*3 Frameshift 3/27 - 1
13-32893263-TCCAC-T c.120_123del p.P41Ifs*38 Frameshift 3/27 - 5
13-32893266-A-T c.120A>T p.P40= Synonymous 3/27 - 1
13-32893266-A-C c.120A>C p.P40= Synonymous 3/27 - 1
13-32893267-CC-AA c.121_122delinsAA p.P41N Missense 3/27 - 1
13-32893267-C-T c.121C>T p.P41S Missense 3/27 - 12
13-32893267-C-G c.121C>G p.P41A Missense 3/27 - 7
13-32893267-C-A c.121C>A p.P41T Missense 3/27 - 3
13-32893265-CACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAA-C c.123_181del p.Y42Ifs*2 InFrameDeletion 3/27 - 1
13-32893268-C-T c.122C>T p.P41L Missense 3/27 - 22
13-32893268-C-A c.122C>A p.P41H Missense 3/27 - 3
13-32893268-C-G c.122C>G p.P41R Missense 3/27 - 3
13-32893266-AC-A c.123del p.Y42Ifs*38 Frameshift 3/27 - 1
13-32893270-T-C c.124T>C p.Y42H Missense 3/27 - 5
13-32893270-T-A c.124T>A p.Y42N Missense 3/27 - 3
13-32893270-T-G c.124T>G p.Y42D Missense 3/27 - 3
13-32893270-TA-GC c.124_125delinsGC p.Y42A Missense 3/27 - 1
13-32893271-A-G c.125A>G p.Y42C Missense 3/27 - 85
13-32893269-CTATAA-C c.125_129del p.Y42Ffs*2 Frameshift 3/27 - 3
13-32893270-T-TA c.125dup p.Y42* Nonsense 3/27 - 1
13-32893271-A-C c.125A>C p.Y42S Missense 3/27 - 3
13-32893271-A-T c.125A>T p.Y42F Missense 3/27 - 3
13-32893268-C-CCTATAATT c.125_132dup p.E45Ifs*38 Frameshift 3/27 - 1
13-32893272-T-A c.126T>A p.Y42* Nonsense 3/27 - 6
13-32893272-T-G c.126T>G p.Y42* Nonsense 3/27 - 3
13-32893273-A-G c.127A>G p.N43D Missense 3/27 - 4
13-32893273-TAA-T c.127_128del p.N43Ffs*2 Frameshift 3/27 - 4
13-32893273-A-C c.127A>C p.N43H Missense 3/27 - 3
13-32893273-A-T c.127A>T p.N43Y Missense 3/27 - 4
13-32893273-AA-TT c.127_128inv p.N43F Missense 3/27 - 1
13-32893272-TA-T c.128del p.N43Ifs*37 Frameshift 3/27 - 5
13-32893274-A-C c.128A>C p.N43T Missense 3/27 - 3
13-32893274-A-G c.128A>G p.N43S Missense 3/27 - 4
13-32893274-A-T c.128A>T p.N43I Missense 3/27 - 4
13-32893275-T-A c.129T>A p.N43K Missense 3/27 - 3
13-32893275-T-G c.129T>G p.N43K Missense 3/27 - 3
13-32893276-T-TA c.130_131insA p.S44Yfs*2 Frameshift 3/27 - 1
13-32893276-T-C c.130T>C p.S44P Missense 3/27 - 4
13-32893276-T-A c.130T>A p.S44T Missense 3/27 - 3
13-32893276-T-G c.130T>G p.S44A Missense 3/27 - 3
13-32893277-C-T c.131C>T p.S44F Missense 3/27 - 4
13-32893277-C-G c.131C>G p.S44C Missense 3/27 - 8
13-32893277-C-A c.131C>A p.S44Y Missense 3/27 - 3
13-32893279-G-A c.133G>A p.E45K Missense 3/27 - 6
13-32893279-G-T c.133G>T p.E45* Nonsense 3/27 - 6
13-32893279-TG-T c.133del p.E45Nfs*35 Frameshift 3/27 - 1
13-32893279-G-C c.133G>C p.E45Q Missense 3/27 - 4
13-32893279-GA-AT c.133_134delinsAT p.E45I Missense 3/27 - 1
13-32893280-A-C c.134A>C p.E45A Missense 3/27 - 3
13-32893280-A-G c.134A>G p.E45G Missense 3/27 - 3
13-32893280-A-T c.134A>T p.E45V Missense 3/27 - 3
13-32893281-A-C c.135A>C p.E45D Missense 3/27 - 3
13-32893281-A-T c.135A>T p.E45D Missense 3/27 - 3
13-32893282-CC-AA c.136_137delinsAA p.P46N Missense 3/27 - 1
13-32893282-C-T c.136C>T p.P46S Missense 3/27 - 14
13-32893282-C-A c.136C>A p.P46T Missense 3/27 - 5
13-32893282-C-G c.136C>G p.P46A Missense 3/27 - 3
13-32893281-AC-A c.137del p.P46Lfs*34 Frameshift 3/27 - 1
13-32893283-C-G c.137C>G p.P46R Missense 3/27 - 5
13-32893283-C-T c.137C>T p.P46L Missense 3/27 - 7
13-32893283-C-A c.137C>A p.P46H Missense 3/27 - 4
13-32893284-T-C c.138T>C p.P46= Synonymous 3/27 - 1
13-32893284-T-G c.138T>G p.P46= Synonymous 3/27 - 2
13-32893284-T-A c.138T>A p.P46= Synonymous 3/27 - 1
13-32893285-GCA-TTT c.139_141delinsTTT p.A47F Missense 3/27 - 2
13-32893285-G-A c.139G>A p.A47T Missense 3/27 - 5
13-32893285-TG-T c.139del p.A47Qfs*33 Frameshift 3/27 - 1
13-32893285-GCA-TGT c.139_141delinsTGT p.A47C Missense 3/27 - 1
13-32893285-G-C c.139G>C p.A47P Missense 3/27 - 3
13-32893285-G-T c.139G>T p.A47S Missense 3/27 - 4
13-32893285-GCA-TGG c.139_141delinsTGG p.A47W Missense 3/27 - 1
13-32893285-GCA-TAT c.139_141delinsTAT p.A47Y Missense 3/27 - 2
13-32893285-GC-TA c.139_140delinsTA p.A47* Nonsense 3/27 - 1
13-32893286-C-G c.140C>G p.A47G Missense 3/27 - 5
13-32893286-GC-G c.140del p.A47Efs*33 Frameshift 3/27 - 1
13-32893286-CA-AC c.140_141delinsAC p.A47D Missense 3/27 - 2
13-32893286-C-A c.140C>A p.A47E Missense 3/27 - 3
13-32893286-C-T c.140C>T p.A47V Missense 3/27 - 7
13-32893287-A-C c.141A>C p.A47= Synonymous 3/27 - 2
13-32893287-A-G c.141A>G p.A47= Synonymous 3/27 - 1
13-32893287-A-T c.141A>T p.A47= Synonymous 3/27 - 1
13-32893287-A-AT c.141_142insT p.E48* Nonsense 3/27 - 1
13-32893288-G-A c.142G>A p.E48K Missense 3/27 - 12
13-32893288-G-C c.142G>C p.E48Q Missense 3/27 - 4
13-32893288-G-T c.142G>T p.E48* Nonsense 3/27 - 1
13-32893289-A-C c.143A>C p.E48A Missense 3/27 - 3
13-32893289-A-G c.143A>G p.E48G Missense 3/27 - 7
13-32893289-A-T c.143A>T p.E48V Missense 3/27 - 5
13-32893290-A-C c.144A>C p.E48D Missense 3/27 - 5
13-32893290-A-T c.144A>T p.E48D Missense 3/27 - 5
13-32893288-GA-G c.144del p.E49Nfs*31 Frameshift 3/27 - 6
13-32893290-A-G c.144A>G p.E48= Synonymous 3/27 - 1
13-32893291-G-T c.145G>T p.E49* Nonsense 3/27 - 59
13-32893291-G-A c.145G>A p.E49K Missense 3/27 - 6
13-32893286-CAGA-C c.145_147del p.E49del InFrameDeletion 3/27 - 1
13-32893291-G-C c.145G>C p.E49Q Missense 3/27 - 7
13-32893291-AGAATCTGAACATAAAAACAACAAT-A c.145_168del p.E49_N56del InFrameDeletion 3/27 - 1
13-32893292-A-T c.146A>T p.E49V Missense 3/27 - 8
13-32893292-A-C c.146A>C p.E49A Missense 3/27 - 3
13-32893292-A-G c.146A>G p.E49G Missense 3/27 - 3
13-32893293-A-T c.147A>T p.E49D Missense 3/27 - 4
13-32893293-A-G c.147A>G p.E49= Synonymous 3/27 - 1
13-32893293-A-C c.147A>C p.E49D Missense 3/27 - 4
13-32893294-T-C c.148T>C p.S50P Missense 3/27 - 5
13-32893294-T-G c.148T>G p.S50A Missense 3/27 - 5
13-32893294-T-A c.148T>A p.S50T Missense 3/27 - 5
13-32893294-TC-CG c.148_149delinsCG p.S50R Missense 3/27 - 1
13-32893294-TC-AA c.148_149delinsAA p.S50N Missense 3/27 - 1
13-32893295-C-A c.149C>A p.S50Y Missense 3/27 - 4
13-32893295-C-G c.149C>G p.S50C Missense 3/27 - 3
13-32893295-C-T c.149C>T p.S50F Missense 3/27 - 4
13-32893296-T-G c.150T>G p.S50= Synonymous 3/27 - 2
13-32893296-T-C c.150T>C p.S50= Synonymous 3/27 - 2
13-32893296-T-A c.150T>A p.S50= Synonymous 3/27 - 2
13-32893297-G-A c.151G>A p.E51K Missense 3/27 - 8
13-32893297-TG-T c.151del p.E51Nfs*29 Frameshift 3/27 - 5
13-32893297-G-T c.151G>T p.E51* Nonsense 3/27 - 2
13-32893297-G-C c.151G>C p.E51Q Missense 3/27 - 3
13-32893298-A-G c.152A>G p.E51G Missense 3/27 - 5
13-32893298-A-C c.152A>C p.E51A Missense 3/27 - 3
13-32893298-A-T c.152A>T p.E51V Missense 3/27 - 3
13-32893299-A-C c.153A>C p.E51D Missense 3/27 - 3
13-32893299-A-T c.153A>T p.E51D Missense 3/27 - 3
13-32893300-C-T c.154C>T p.H52Y Missense 3/27 - 10
13-32893300-CA-AG c.154_155delinsAG p.H52S Missense 3/27 - 1
13-32893300-C-A c.154C>A p.H52N Missense 3/27 - 3
13-32893300-C-G c.154C>G p.H52D Missense 3/27 - 3
13-32893301-A-G c.155A>G p.H52R Missense 3/27 - 10
13-32893301-A-C c.155A>C p.H52P Missense 3/27 - 3
13-32893301-A-T c.155A>T p.H52L Missense 3/27 - 3
13-32893302-T-TGC c.156_157insGC p.K53Afs*28 Frameshift 3/27 - 1
13-32893302-AT-A c.156del p.H52Qfs*28 Frameshift 3/27 - 1
13-32893302-T-TGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA c.156_157insGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA p.K53Afs*9 Frameshift 3/27 - 2
13-32893302-T-A c.156T>A p.H52Q Missense 3/27 - 3
13-32893302-T-G c.156T>G p.H52Q Missense 3/27 - 3
13-32893303-A-C c.157A>C p.K53Q Missense 3/27 - 4
13-32893303-A-T c.157A>T p.K53* Nonsense 3/27 - 4
13-32893303-A-G c.157A>G p.K53E Missense 3/27 - 5
13-32893303-AA-GC c.157_158delinsGC p.K53A Missense 3/27 - 1
13-32893304-A-C c.158A>C p.K53T Missense 3/27 - 3
13-32893304-A-G c.158A>G p.K53R Missense 3/27 - 4
13-32893304-A-T c.158A>T p.K53I Missense 3/27 - 3
13-32893305-A-C c.159A>C p.K53N Missense 3/27 - 3
13-32893305-A-T c.159A>T p.K53N Missense 3/27 - 3
13-32893302-TAA-T c.160_161del p.N54Qfs*9 Frameshift 3/27 - 4
13-32893306-A-C c.160A>C p.N54H Missense 3/27 - 4
13-32893306-A-G c.160A>G p.N54D Missense 3/27 - 3
13-32893306-A-T c.160A>T p.N54Y Missense 3/27 - 3
13-32893302-T-TA c.161dup p.N54Kfs*10 Frameshift 3/27 - 68
13-32893302-TA-T c.161del p.N54Tfs*26 Frameshift 3/27 - 10
13-32893307-A-C c.161A>C p.N54T Missense 3/27 - 7
13-32893307-A-G c.161A>G p.N54S Missense 3/27 - 3
13-32893307-A-T c.161A>T p.N54I Missense 3/27 - 3
13-32893308-AC-A c.162del p.N54Kfs*26 Frameshift 3/27 - 4
13-32893308-C-A c.162C>A p.N54K Missense 3/27 - 4
13-32893308-C-G c.162C>G p.N54K Missense 3/27 - 4
13-32893309-A-T c.163A>T p.N55Y Missense 3/27 - 5
13-32893309-A-C c.163A>C p.N55H Missense 3/27 - 3
13-32893309-A-G c.163A>G p.N55D Missense 3/27 - 4
13-32893310-A-G c.164A>G p.N55S Missense 3/27 - 12
13-32893310-A-C c.164A>C p.N55T Missense 3/27 - 3
13-32893310-A-T c.164A>T p.N55I Missense 3/27 - 3
13-32893305-AAAC-A c.165_167del p.N56del InFrameDeletion 3/27 - 6
13-32893311-AC-A c.165del p.N55Kfs*25 Frameshift 3/27 - 1
13-32893311-C-T c.165C>T p.N55= Synonymous 3/27 - 2
13-32893311-C-A c.165C>A p.N55K Missense 3/27 - 3
13-32893311-C-G c.165C>G p.N55K Missense 3/27 - 3
13-32893312-A-C c.166A>C p.N56H Missense 3/27 - 3
13-32893312-A-G c.166A>G p.N56D Missense 3/27 - 5
13-32893312-A-T c.166A>T p.N56Y Missense 3/27 - 3
13-32893312-CAAT-C c.166_168del p.N56del InFrameDeletion 3/27 - 1
13-32893312-AA-GC c.166_167delinsGC p.N56A Missense 3/27 - 1
13-32893313-A-C c.167A>C p.N56T Missense 3/27 - 19
13-32893311-CA-C c.167del p.N56Ifs*24 Frameshift 3/27 - 1
13-32893313-A-G c.167A>G p.N56S Missense 3/27 - 5
13-32893313-A-T c.167A>T p.N56I Missense 3/27 - 3
13-32893311-C-CA c.167dup p.N56Kfs*8 Frameshift 3/27 - 1
13-32893314-T-A c.168T>A p.N56K Missense 3/27 - 3
13-32893314-T-G c.168T>G p.N56K Missense 3/27 - 3
13-32893315-TA-GC c.169_170delinsGC p.Y57A Missense 3/27 - 2
13-32893315-T-A c.169T>A p.Y57N Missense 3/27 - 3
13-32893315-T-C c.169T>C p.Y57H Missense 3/27 - 3
13-32893315-T-G c.169T>G p.Y57D Missense 3/27 - 3
13-32893315-T-TA c.170dup p.Y57* Nonsense 3/27 - 6
13-32893316-A-G c.170A>G p.Y57C Missense 3/27 - 4
13-32893316-A-C c.170A>C p.Y57S Missense 3/27 - 3
13-32893316-A-T c.170A>T p.Y57F Missense 3/27 - 3
13-32893314-T-TTAA c.170_171insATA p.N56_Y57ins* InFrameInsertion 3/27 - 2
13-32893315-T-TAGCAGC c.170_171insGCAGCA p.Y57delins* Nonsense 3/27 - 1
13-32893317-C-G c.171C>G p.Y57* Nonsense 3/27 - 12
13-32893317-AC-A c.171del p.Y57* Frameshift 3/27 - 5
13-32893317-C-T c.171C>T p.Y57= Synonymous 3/27 - 4
13-32893317-C-A c.171C>A p.Y57* Nonsense 3/27 - 9
13-32893313-ATTACGAACCAAACCTAT-A c.171_187del p.Y57* Frameshift 3/27 - 1
13-32893318-G-T c.172G>T p.E58* Nonsense 3/27 - 7
13-32893318-G-C c.172G>C p.E58Q Missense 3/27 - 4
13-32893318-G-A c.172G>A p.E58K Missense 3/27 - 18
13-32893319-A-C c.173A>C p.E58A Missense 3/27 - 4
13-32893319-A-T c.173A>T p.E58V Missense 3/27 - 5
13-32893319-A-G c.173A>G p.E58G Missense 3/27 - 3
13-32893320-A-G c.174A>G p.E58= Synonymous 3/27 - 3
13-32893320-A-C c.174A>C p.E58D Missense 3/27 - 4
13-32893320-A-T c.174A>T p.E58D Missense 3/27 - 3
13-32893321-C-G c.175C>G p.P59A Missense 3/27 - 21
13-32893321-CC-TA c.175_176delinsTA p.P59* Nonsense 3/27 - 3
13-32893321-C-A c.175C>A p.P59T Missense 3/27 - 7
13-32893321-C-T c.175C>T p.P59S Missense 3/27 - 4
13-32893319-AACC-A c.175_177del p.P59del InFrameDeletion 3/27 - 2
13-32893320-AC-A c.176del p.P59Qfs*21 Frameshift 3/27 - 7
13-32893322-C-T c.176C>T p.P59L Missense 3/27 - 7
13-32893322-CAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATA-AAACCTATTTAAAACTCCACAAAGGAAACC c.176_214delinsAAACCTATTTAAAACTCCACAAAGGAAACC p.P59_N72delinsQTYLKLHKGNH MultiAAMissense 3/27 - 3
13-32893322-C-A c.176C>A p.P59Q Missense 3/27 - 6
13-32893319-AACCAAACCTATTTAAAACTCC-A c.176_196del p.P59_P65del InFrameDeletion 3/27 - 3
13-32893322-C-G c.176C>G p.P59R Missense 3/27 - 7
13-32893324-A-C c.178A>C p.N60H Missense 3/27 - 3
13-32893324-A-G c.178A>G p.N60D Missense 3/27 - 4
13-32893324-A-T c.178A>T p.N60Y Missense 3/27 - 3
13-32893325-A-G c.179A>G p.N60S Missense 3/27 - 17
13-32893325-A-C c.179A>C p.N60T Missense 3/27 - 3
13-32893325-A-T c.179A>T p.N60I Missense 3/27 - 4
13-32893326-C-A c.180C>A p.N60K Missense 3/27 - 3
13-32893326-C-G c.180C>G p.N60K Missense 3/27 - 3
13-32893327-CCT-C c.181_182del p.L61Ifs*2 Frameshift 3/27 - 2
13-32893327-C-G c.181C>G p.L61V Missense 3/27 - 9
13-32893327-C-A c.181C>A p.L61I Missense 3/27 - 4
13-32893327-CT-GC c.181_182delinsGC p.L61A Missense 3/27 - 1
13-32893328-T-C c.182T>C p.L61P Missense 3/27 - 14
13-32893328-CT-C c.182del p.L61Hfs*19 Frameshift 3/27 - 2
13-32893328-T-A c.182T>A p.L61Q Missense 3/27 - 3
13-32893328-T-G c.182T>G p.L61R Missense 3/27 - 4
13-32893329-A-C c.183A>C p.L61= Synonymous 3/27 - 1
13-32893329-A-T c.183A>T p.L61= Synonymous 3/27 - 3
13-32893329-A-G c.183A>G p.L61= Synonymous 3/27 - 1
13-32893327-C-T c.181C>T p.L61= Synonymous 3/27 - 1
13-32893330-T-C c.184T>C p.F62L Missense 3/27 - 4
13-32893330-T-A c.184T>A p.F62I Missense 3/27 - 3
13-32893330-T-G c.184T>G p.F62V Missense 3/27 - 3
13-32893330-TTT-GAG c.184_186delinsGAG p.F62E Missense 3/27 - 2
13-32893331-T-A c.185T>A p.F62Y Missense 3/27 - 4
13-32893331-T-C c.185T>C p.F62S Missense 3/27 - 3
13-32893331-T-G c.185T>G p.F62C Missense 3/27 - 4
13-32893329-AT-A c.186del p.F62Lfs*18 Frameshift 3/27 - 5
13-32893332-T-A c.186T>A p.F62L Missense 3/27 - 3
13-32893332-T-G c.186T>G p.F62L Missense 3/27 - 3
13-32893332-TTA-T c.186_187del p.F62Lfs*10 Frameshift 3/27 - 1
13-32893333-A-C c.187A>C p.K63Q Missense 3/27 - 4
13-32893333-A-G c.187A>G p.K63E Missense 3/27 - 3
13-32893333-A-T c.187A>T p.K63* Nonsense 3/27 - 3
13-32893334-A-G c.188A>G p.K63R Missense 3/27 - 10
13-32893334-A-C c.188A>C p.K63T Missense 3/27 - 3
13-32893334-A-T c.188A>T p.K63I Missense 3/27 - 3
13-32893335-A-G c.189A>G p.K63= Synonymous 3/27 - 1
13-32893335-A-C c.189A>C p.K63N Missense 3/27 - 8
13-32893335-A-T c.189A>T p.K63N Missense 3/27 - 3
13-32893335-A-AATGATTCT c.190_191insTGATTCTA p.T64Mfs*19 Frameshift 3/27 - 1
13-32893332-T-TA c.190dup p.T64Nfs*9 Frameshift 3/27 - 3
13-32893336-A-G c.190A>G p.T64A Missense 3/27 - 4
13-32893336-A-C c.190A>C p.T64P Missense 3/27 - 5
13-32893336-A-T c.190A>T p.T64S Missense 3/27 - 6
13-32893332-TA-T c.190del p.T64Lfs*16 Frameshift 3/27 - 1
13-32893337-C-T c.191C>T p.T64I Missense 3/27 - 13
13-32893337-C-G c.191C>G p.T64S Missense 3/27 - 4
13-32893337-C-A c.191C>A p.T64N Missense 3/27 - 4
13-32893337-CT-TG c.191_192delinsTG p.T64M Missense 3/27 - 1
13-32893338-T-C c.192T>C p.T64= Synonymous 3/27 - 2
13-32893338-T-A c.192T>A p.T64= Synonymous 3/27 - 1
13-32893338-T-G c.192T>G p.T64= Synonymous 3/27 - 1
13-32893339-C-T c.193C>T p.P65S Missense 3/27 - 8
13-32893339-CCA-TTT c.193_195delinsTTT p.P65F Missense 3/27 - 1
13-32893339-C-A c.193C>A p.P65T Missense 3/27 - 4
13-32893339-C-G c.193C>G p.P65A Missense 3/27 - 4
13-32893340-C-G c.194C>G p.P65R Missense 3/27 - 5
13-32893340-C-A c.194C>A p.P65Q Missense 3/27 - 5
13-32893338-TC-T c.194del p.P65Hfs*15 Frameshift 3/27 - 4
13-32893340-C-T c.194C>T p.P65L Missense 3/27 - 6
13-32893340-CA-AT c.194_195delinsAT p.P65H Missense 3/27 - 1
13-32893341-A-T c.195A>T p.P65= Synonymous 3/27 - 1
13-32893341-A-G c.195A>G p.P65= Synonymous 3/27 - 1
13-32893341-A-C c.195A>C p.P65= Synonymous 3/27 - 1
13-32893342-C-T c.196C>T p.Q66* Nonsense 3/27 - 13
13-32893341-A-AC c.196dup p.Q66Pfs*7 Frameshift 3/27 - 1
13-32893342-C-A c.196C>A p.Q66K Missense 3/27 - 3
13-32893342-C-G c.196C>G p.Q66E Missense 3/27 - 3
13-32893342-CA-GC c.196_197delinsGC p.Q66A Missense 3/27 - 1
13-32893334-AAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTC-A c.196_234del p.Q66_P78del InFrameDeletion 3/27 - 1
13-32893343-A-T c.197A>T p.Q66L Missense 3/27 - 4
13-32893343-A-C c.197A>C p.Q66P Missense 3/27 - 6
13-32893343-A-G c.197A>G p.Q66R Missense 3/27 - 4
13-32893344-A-G c.198A>G p.Q66= Synonymous 3/27 - 9
13-32893344-A-C c.198A>C p.Q66H Missense 3/27 - 3
13-32893344-A-T c.198A>T p.Q66H Missense 3/27 - 3
13-32893345-A-T c.199A>T p.R67W Missense 3/27 - 6
13-32893345-A-G c.199A>G p.R67G Missense 3/27 - 6
13-32893344-AAGGAAACCATCTT-A c.200_212del p.R67Ifs*9 Frameshift 3/27 - 3
13-32893346-G-C c.200G>C p.R67T Missense 3/27 - 8
13-32893346-G-A c.200G>A p.R67K Missense 3/27 - 4
13-32893346-G-T c.200G>T p.R67M Missense 3/27 - 4
13-32893344-AAGGAAACCATCTTATAATC-A c.201_219del p.R67Sfs*7 Frameshift 3/27 - 2
13-32893347-G-C c.201G>C p.R67S Missense 3/27 - 3
13-32893347-G-T c.201G>T p.R67S Missense 3/27 - 3
13-32893346-G-GGA c.201_202dup p.K68Rfs*13 Frameshift 3/27 - 1
13-32893345-AG-A c.201del p.K68Nfs*12 Frameshift 3/27 - 1
13-32893348-A-T c.202A>T p.K68* Nonsense 3/27 - 2
13-32893348-A-G c.202A>G p.K68E Missense 3/27 - 5
13-32893348-A-C c.202A>C p.K68Q Missense 3/27 - 3
13-32893349-A-C c.203A>C p.K68T Missense 3/27 - 6
13-32893349-A-G c.203A>G p.K68R Missense 3/27 - 4
13-32893349-A-T c.203A>T p.K68I Missense 3/27 - 3
13-32893349-AA-TG c.203_204delinsTG p.K68M Missense 3/27 - 1
13-32893347-GAAACCATCTTATAATC-G c.203_218del p.K68Sfs*7 Frameshift 3/27 - 4
13-32893349-AA-GC c.203_204delinsGC p.K68S Missense 3/27 - 1
13-32893347-GA-G c.204del p.K68Nfs*12 Frameshift 3/27 - 6
13-32893350-A-G c.204A>G p.K68= Synonymous 3/27 - 1
13-32893350-A-C c.204A>C p.K68N Missense 3/27 - 4
13-32893350-A-T c.204A>T p.K68N Missense 3/27 - 4
13-32893347-G-GA c.204dup p.P69Tfs*4 Frameshift 3/27 - 3
13-32893351-C-T c.205C>T p.P69S Missense 3/27 - 5
13-32893351-C-A c.205C>A p.P69T Missense 3/27 - 10
13-32893351-C-G c.205C>G p.P69A Missense 3/27 - 3
13-32893352-C-T c.206C>T p.P69L Missense 3/27 - 5
13-32893352-C-A c.206C>A p.P69Q Missense 3/27 - 3
13-32893352-C-G c.206C>G p.P69R Missense 3/27 - 3
13-32893350-AC-A c.206del p.P69Hfs*11 Frameshift 3/27 - 1
13-32893353-A-T c.207A>T p.P69= Synonymous 3/27 - 1
13-32893353-A-G c.207A>G p.P69= Synonymous 3/27 - 1
13-32893353-A-C c.207A>C p.P69= Synonymous 3/27 - 1
13-32893354-T-C c.208T>C p.S70P Missense 3/27 - 5
13-32893354-TC-AA c.208_209delinsAA p.S70N Missense 3/27 - 1
13-32893354-T-A c.208T>A p.S70T Missense 3/27 - 7
13-32893354-T-G c.208T>G p.S70A Missense 3/27 - 4
13-32893355-C-T c.209C>T p.S70F Missense 3/27 - 6
13-32893355-C-A c.209C>A p.S70Y Missense 3/27 - 4
13-32893355-C-G c.209C>G p.S70C Missense 3/27 - 4
13-32893356-T-G c.210T>G p.S70= Synonymous 3/27 - 1
13-32893356-T-C c.210T>C p.S70= Synonymous 3/27 - 1
13-32893356-T-A c.210T>A p.S70= Synonymous 3/27 - 1
13-32893355-CT-C c.211del p.Y71Ifs*9 Frameshift 3/27 - 1
13-32893357-T-C c.211T>C p.Y71H Missense 3/27 - 5
13-32893357-T-A c.211T>A p.Y71N Missense 3/27 - 4
13-32893357-T-G c.211T>G p.Y71D Missense 3/27 - 4
13-32893357-TA-GC c.211_212delinsGC p.Y71A Missense 3/27 - 1
13-32893358-A-G c.212A>G p.Y71C Missense 3/27 - 5
13-32893358-A-C c.212A>C p.Y71S Missense 3/27 - 3
13-32893358-A-T c.212A>T p.Y71F Missense 3/27 - 3
13-32893357-T-TA c.212dup p.Y71* Nonsense 3/27 - 3
13-32893359-T-C c.213T>C p.Y71= Synonymous 3/27 - 2
13-32893359-T-A c.213T>A p.Y71* Nonsense 3/27 - 3
13-32893359-T-G c.213T>G p.Y71* Nonsense 3/27 - 2
13-32893360-A-C c.214A>C p.N72H Missense 3/27 - 4
13-32893360-A-T c.214A>T p.N72Y Missense 3/27 - 7
13-32893360-A-G c.214A>G p.N72D Missense 3/27 - 4
13-32893361-A-G c.215A>G p.N72S Missense 3/27 - 20
13-32893361-A-TT c.215delinsTT p.N72Ifs*29 Frameshift 3/27 - 4
13-32893359-TA-T c.215del p.N72Ifs*8 Frameshift 3/27 - 1
13-32893361-A-T c.215A>T p.N72I Missense 3/27 - 7
13-32893361-A-AG c.215_216insG p.N72Kfs*29 Frameshift 3/27 - 1
13-32893361-A-C c.215A>C p.N72T Missense 3/27 - 3
13-32893362-T-A c.216T>A p.N72K Missense 3/27 - 3
13-32893362-T-G c.216T>G p.N72K Missense 3/27 - 3
13-32893363-CA-GC c.217_218delinsGC p.Q73A Missense 3/27 - 2
13-32893363-C-T c.217C>T p.Q73* Nonsense 3/27 - 7
13-32893363-TC-T c.217del p.Q73Sfs*7 Frameshift 3/27 - 3
13-32893363-C-A c.217C>A p.Q73K Missense 3/27 - 3
13-32893363-C-G c.217C>G p.Q73E Missense 3/27 - 4
13-32893363-CA-TC c.217_218delinsTC p.Q73S Missense 3/27 - 1
13-32893362-T-TCGG c.217_218insGGC p.N72_Q73insR InFrameInsertion 3/27 - 1
13-32893364-A-C c.218A>C p.Q73P Missense 3/27 - 4
13-32893364-A-G c.218A>G p.Q73R Missense 3/27 - 5
13-32893364-A-T c.218A>T p.Q73L Missense 3/27 - 4
13-32893365-G-T c.219G>T p.Q73H Missense 3/27 - 4
13-32893365-G-C c.219G>C p.Q73H Missense 3/27 - 4
13-32893365-G-A c.219G>A p.Q73= Synonymous 3/27 - 1
13-32893366-C-A c.220C>A p.L74M Missense 3/27 - 3
13-32893366-C-G c.220C>G p.L74V Missense 3/27 - 3
13-32893367-T-C c.221T>C p.L74P Missense 3/27 - 6
13-32893367-T-A c.221T>A p.L74Q Missense 3/27 - 3
13-32893367-T-G c.221T>G p.L74R Missense 3/27 - 4
13-32893367-CT-C c.221del p.L74Rfs*6 Frameshift 3/27 - 3
13-32893368-G-A c.222G>A p.L74= Synonymous 3/27 - 5
13-32893368-G-T c.222G>T p.L74= Synonymous 3/27 - 2
13-32893368-G-C c.222G>C p.L74= Synonymous 3/27 - 2
13-32893366-C-T c.220C>T p.L74= Synonymous 3/27 - 8
13-32893369-G-C c.223G>C p.A75P Missense 3/27 - 57
13-32893369-GC-TG c.223_224delinsTG p.A75C Missense 3/27 - 3
13-32893369-GC-CA c.223_224delinsCA p.A75H Missense 3/27 - 1
13-32893369-GCT-TGG c.223_225delinsTGG p.A75W Missense 3/27 - 1
13-32893369-GCT-TAA c.223_225delinsTAA p.A75* Nonsense 3/27 - 2
13-32893369-G-A c.223G>A p.A75T Missense 3/27 - 4
13-32893369-G-T c.223G>T p.A75S Missense 3/27 - 5
13-32893369-GC-AT c.223_224delinsAT p.A75I Missense 3/27 - 1
13-32893369-G-GA c.223_224insA p.A75Dfs*26 Frameshift 3/27 - 3
13-32893369-GCT-AAG c.223_225delinsAAG p.A75K Missense 3/27 - 1
13-32893369-GC-CT c.223_224delinsCT p.A75L Missense 3/27 - 1
13-32893369-GCT-ATG c.223_225delinsATG p.A75M Missense 3/27 - 1
13-32893370-C-CA c.224_225insA p.S76Ffs*25 Frameshift 3/27 - 5
13-32893370-C-G c.224C>G p.A75G Missense 3/27 - 6
13-32893370-C-A c.224C>A p.A75D Missense 3/27 - 5
13-32893370-C-T c.224C>T p.A75V Missense 3/27 - 5
13-32893371-T-G c.225T>G p.A75= Synonymous 3/27 - 1
13-32893372-T-C c.226T>C p.S76P Missense 3/27 - 6
13-32893372-T-A c.226T>A p.S76T Missense 3/27 - 3
13-32893372-T-G c.226T>G p.S76A Missense 3/27 - 3
13-32893370-CT-C c.226del p.S76Qfs*4 Frameshift 3/27 - 1
13-32893373-C-A c.227C>A p.S76* Nonsense 3/27 - 5
13-32893373-C-G c.227C>G p.S76* Nonsense 3/27 - 14
13-32893373-C-T c.227C>T p.S76L Missense 3/27 - 3
13-32893373-TC-T c.227del p.S76* Frameshift 3/27 - 1
13-32893375-A-G c.229A>G p.T77A Missense 3/27 - 17
13-32893375-A-T c.229A>T p.T77S Missense 3/27 - 4
13-32893375-AAC-A c.229_230del p.T77Sfs*23 Frameshift 3/27 - 2
13-32893375-A-C c.229A>C p.T77P Missense 3/27 - 3
13-32893376-C-T c.230C>T p.T77I Missense 3/27 - 7
13-32893376-CT-TG c.230_231delinsTG p.T77M Missense 3/27 - 1
13-32893374-AACTCC-A c.230_234del p.T77Nfs*22 Frameshift 3/27 - 1
13-32893376-C-G c.230C>G p.T77S Missense 3/27 - 3
13-32893376-C-A c.230C>A p.T77N Missense 3/27 - 3
13-32893376-CT-GG c.230_231delinsGG p.T77R Missense 3/27 - 1
13-32893377-T-G c.231T>G p.T77= Synonymous 3/27 - 17
13-32893377-CTCCAATAATATTCAAAGAGCAA-C c.231_252del p.P78Gfs*2 Frameshift 3/27 - 3
13-32893375-ACT-A c.231_232del p.P78Nfs*22 Frameshift 3/27 - 1
13-32893377-T-A c.231T>A p.T77= Synonymous 3/27 - 3
13-32893377-T-C c.231T>C p.T77= Synonymous 3/27 - 3
13-32893378-C-T c.232C>T p.P78S Missense 3/27 - 11
13-32893378-C-A c.232C>A p.P78T Missense 3/27 - 4
13-32893378-C-G c.232C>G p.P78A Missense 3/27 - 3
13-32893378-CC-GG c.232_233inv p.P78G Missense 3/27 - 1
13-32893379-C-T c.233C>T p.P78L Missense 3/27 - 4
13-32893379-C-A c.233C>A p.P78Q Missense 3/27 - 4
13-32893379-C-G c.233C>G p.P78R Missense 3/27 - 3
13-32893379-CA-AT c.233_234delinsAT p.P78H Missense 3/27 - 1
13-32893380-AA-TC c.234_235delinsTC p.I79L Missense 3/27 - 1
13-32893381-A-G c.235A>G p.I79V Missense 3/27 - 10
13-32893381-A-C c.235A>C p.I79L Missense 3/27 - 3
13-32893381-A-T c.235A>T p.I79L Missense 3/27 - 3
13-32893382-T-C c.236T>C p.I79T Missense 3/27 - 5
13-32893382-T-A c.236T>A p.I79K Missense 3/27 - 3
13-32893382-T-G c.236T>G p.I79R Missense 3/27 - 3
13-32893382-TA-GC c.236_237delinsGC p.I79S Missense 3/27 - 1
13-32893383-A-G c.237A>G p.I79M Missense 3/27 - 5
13-32893384-A-G c.238A>G p.I80V Missense 3/27 - 8
13-32893384-A-T c.238A>T p.I80L Missense 3/27 - 7
13-32893384-A-C c.238A>C p.I80L Missense 3/27 - 3
13-32893385-ATATTC-A c.239_243del p.I80Kfs*19 Frameshift 3/27 - 3
13-32893385-T-C c.239T>C p.I80T Missense 3/27 - 5
13-32893385-T-A c.239T>A p.I80K Missense 3/27 - 3
13-32893385-T-G c.239T>G p.I80R Missense 3/27 - 3
13-32893386-A-G c.240A>G p.I80M Missense 3/27 - 13
13-32893386-A-C c.240A>C p.I80= Synonymous 3/27 - 1
13-32893386-A-T c.240A>T p.I80= Synonymous 3/27 - 2
13-32893383-AAT-A c.240_241del p.F81Qfs*19 Frameshift 3/27 - 1
13-32893387-T-A c.241T>A p.F81I Missense 3/27 - 14
13-32893387-T-G c.241T>G p.F81V Missense 3/27 - 11
13-32893387-TT-GC c.241_242delinsGC p.F81A Missense 3/27 - 2
13-32893387-T-C c.241T>C p.F81L Missense 3/27 - 6
13-32893388-T-C c.242T>C p.F81S Missense 3/27 - 4
13-32893388-T-A c.242T>A p.F81Y Missense 3/27 - 3
13-32893388-T-G c.242T>G p.F81C Missense 3/27 - 5
13-32893389-C-T c.243C>T p.F81= Synonymous 3/27 - 4
13-32893389-C-A c.243C>A p.F81L Missense 3/27 - 4
13-32893389-C-G c.243C>G p.F81L Missense 3/27 - 4
13-32893390-A-T c.244A>T p.K82* Nonsense 3/27 - 8
13-32893390-A-G c.244A>G p.K82E Missense 3/27 - 4
13-32893390-A-C c.244A>C p.K82Q Missense 3/27 - 6
13-32893391-AA-TG c.245_246delinsTG p.K82M Missense 3/27 - 1
13-32893391-A-G c.245A>G p.K82R Missense 3/27 - 4
13-32893391-A-C c.245A>C p.K82T Missense 3/27 - 3
13-32893391-A-T c.245A>T p.K82I Missense 3/27 - 3
13-32893389-C-CA c.246dup p.E83Rfs*18 Frameshift 3/27 - 5
13-32893392-A-C c.246A>C p.K82N Missense 3/27 - 3
13-32893392-A-T c.246A>T p.K82N Missense 3/27 - 3
13-32893389-CA-C c.246del p.E83Sfs*4 Frameshift 3/27 - 3
13-32893393-G-C c.247G>C p.E83Q Missense 3/27 - 9
13-32893393-G-A c.247G>A p.E83K Missense 3/27 - 6
13-32893393-G-T c.247G>T p.E83* Nonsense 3/27 - 7
13-32893394-A-T c.248A>T p.E83V Missense 3/27 - 4
13-32893394-A-G c.248A>G p.E83G Missense 3/27 - 5
13-32893394-A-C c.248A>C p.E83A Missense 3/27 - 5
13-32893391-AAG-A c.248_249del p.E83Afs*17 Frameshift 3/27 - 2
13-32893395-AG-A c.249del p.E83Dfs*4 Frameshift 3/27 - 1
13-32893395-G-C c.249G>C p.E83D Missense 3/27 - 5
13-32893395-G-T c.249G>T p.E83D Missense 3/27 - 3
13-32893395-G-A c.249G>A p.E83= Synonymous 3/27 - 1
13-32893396-C-T c.250C>T p.Q84* Nonsense 3/27 - 26
13-32893396-C-G c.250C>G p.Q84E Missense 3/27 - 11
13-32893396-GC-G c.250del p.Q84Kfs*3 Frameshift 3/27 - 4
13-32893396-C-A c.250C>A p.Q84K Missense 3/27 - 4
13-32893397-A-G c.251A>G p.Q84R Missense 3/27 - 5
13-32893397-A-C c.251A>C p.Q84P Missense 3/27 - 4
13-32893397-A-T c.251A>T p.Q84L Missense 3/27 - 2
13-32893398-A-G c.252A>G p.Q84= Synonymous 3/27 - 1
13-32893398-A-T c.252A>T p.Q84H Missense 3/27 - 4
13-32893398-A-C c.252A>C p.Q84H Missense 3/27 - 3
13-32893399-G-T c.253G>T p.G85W Missense 3/27 - 4
13-32893399-G-A c.253G>A p.G85R Missense 3/27 - 5
13-32893399-G-C c.253G>C p.G85R Missense 3/27 - 5
13-32893399-GGG-TGT c.253_255delinsTGT p.G85C Missense 3/27 - 1
13-32893400-GG-AC c.254_255delinsAC p.G85D Missense 3/27 - 1
13-32893400-G-A c.254G>A p.G85E Missense 3/27 - 3
13-32893400-G-C c.254G>C p.G85A Missense 3/27 - 3
13-32893400-G-T c.254G>T p.G85V Missense 3/27 - 3
13-32893401-G-T c.255G>T p.G85= Synonymous 3/27 - 2
13-32893401-G-A c.255G>A p.G85= Synonymous 3/27 - 2
13-32893401-G-C c.255G>C p.G85= Synonymous 3/27 - 2
13-32893402-CTG-TTT c.256_258delinsTTT p.L86F Missense 3/27 - 1
13-32893402-C-G c.256C>G p.L86V Missense 3/27 - 4
13-32893402-GC-G c.256del p.L86* Frameshift 3/27 - 1
13-32893402-C-A c.256C>A p.L86M Missense 3/27 - 3
13-32893403-T-C c.257T>C p.L86P Missense 3/27 - 12
13-32893403-T-A c.257T>A p.L86Q Missense 3/27 - 3
13-32893403-T-G c.257T>G p.L86R Missense 3/27 - 3
13-32893404-G-T c.258G>T p.L86= Synonymous 3/27 - 1
13-32893404-G-A c.258G>A p.L86= Synonymous 3/27 - 1
13-32893404-G-C c.258G>C p.L86= Synonymous 3/27 - 1
13-32893402-C-T c.256C>T p.L86= Synonymous 3/27 - 1
13-32893405-A-G c.259A>G p.T87A Missense 3/27 - 4
13-32893405-A-C c.259A>C p.T87P Missense 3/27 - 3
13-32893405-A-T c.259A>T p.T87S Missense 3/27 - 4
13-32893406-C-G c.260C>G p.T87S Missense 3/27 - 4
13-32893406-C-A c.260C>A p.T87N Missense 3/27 - 3
13-32893406-C-T c.260C>T p.T87I Missense 3/27 - 5
13-32893407-T-C c.261T>C p.T87= Synonymous 3/27 - 1
13-32893407-T-G c.261T>G p.T87= Synonymous 3/27 - 1
13-32893405-ACT-A c.262_263del p.L88Afs*12 Frameshift 3/27 - 20
13-32893408-CT-GC c.262_263delinsGC p.L88A Missense 3/27 - 1
13-32893408-CT-TA c.262_263delinsTA p.L88* Nonsense 3/27 - 1
13-32893408-C-G c.262C>G p.L88V Missense 3/27 - 5
13-32893408-C-A c.262C>A p.L88M Missense 3/27 - 3
13-32893408-CTG-TTT c.262_264delinsTTT p.L88F Missense 3/27 - 1
13-32893409-CT-C c.263del p.L88Rfs*8 Frameshift 3/27 - 6
13-32893409-T-G c.263T>G p.L88R Missense 3/27 - 9
13-32893409-T-A c.263T>A p.L88Q Missense 3/27 - 3
13-32893409-T-C c.263T>C p.L88P Missense 3/27 - 4
13-32893410-G-T c.264G>T p.L88= Synonymous 3/27 - 2
13-32893410-G-A c.264G>A p.L88= Synonymous 3/27 - 2
13-32893410-G-C c.264G>C p.L88= Synonymous 3/27 - 2
13-32893408-C-T c.262C>T p.L88= Synonymous 3/27 - 2
13-32893411-CCG-AAC c.265_267delinsAAC p.P89N Missense 3/27 - 1
13-32893411-C-A c.265C>A p.P89T Missense 3/27 - 3
13-32893411-C-G c.265C>G p.P89A Missense 3/27 - 3
13-32893411-C-T c.265C>T p.P89S Missense 3/27 - 3
13-32893412-C-T c.266C>T p.P89L Missense 3/27 - 19
13-32893410-GC-G c.266del p.P89Rfs*7 Frameshift 3/27 - 5
13-32893412-C-A c.266C>A p.P89Q Missense 3/27 - 8
13-32893412-C-G c.266C>G p.P89R Missense 3/27 - 3
13-32893413-G-A c.267G>A p.P89= Synonymous 3/27 - 5
13-32893413-G-T c.267G>T p.P89= Synonymous 3/27 - 2
13-32893413-G-C c.267G>C p.P89= Synonymous 3/27 - 1
13-32893411-CCG-C c.267_268del p.L90Vfs*10 Frameshift 3/27 - 3
13-32893414-C-A c.268C>A p.L90M Missense 3/27 - 3
13-32893414-C-G c.268C>G p.L90V Missense 3/27 - 5
13-32893414-CTG-TTT c.268_270delinsTTT p.L90F Missense 3/27 - 1
13-32893415-T-C c.269T>C p.L90P Missense 3/27 - 6
13-32893415-T-A c.269T>A p.L90Q Missense 3/27 - 3
13-32893415-T-G c.269T>G p.L90R Missense 3/27 - 3
13-32893416-G-T c.270G>T p.L90= Synonymous 3/27 - 1
13-32893416-G-A c.270G>A p.L90= Synonymous 3/27 - 1
13-32893416-G-C c.270G>C p.L90= Synonymous 3/27 - 1
13-32893414-C-T c.268C>T p.L90= Synonymous 3/27 - 2
13-32893417-T-C c.271T>C p.Y91H Missense 3/27 - 4
13-32893417-GTA-G c.271_272del p.Y91Pfs*9 Frameshift 3/27 - 7
13-32893417-T-A c.271T>A p.Y91N Missense 3/27 - 3
13-32893417-T-G c.271T>G p.Y91D Missense 3/27 - 3
13-32893417-TA-CC c.271_272delinsCC p.Y91P Missense 3/27 - 1
13-32893418-A-G c.272A>G p.Y91C Missense 3/27 - 7
13-32893418-A-C c.272A>C p.Y91S Missense 3/27 - 4
13-32893418-A-T c.272A>T p.Y91F Missense 3/27 - 3
13-32893418-A-TT c.272delinsTT p.Y91Ffs*10 Frameshift 3/27 - 1
13-32893419-C-G c.273C>G p.Y91* Nonsense 3/27 - 8
13-32893419-C-A c.273C>A p.Y91* Nonsense 3/27 - 8
13-32893419-C-T c.273C>T p.Y91= Synonymous 3/27 - 4
13-32893413-GCTGTACCAATCTC-G c.273_285del p.Y91* Frameshift 3/27 - 1
13-32893420-C-T c.274C>T p.Q92* Nonsense 3/27 - 12
13-32893418-A-AC c.274dup p.Q92Pfs*9 Frameshift 3/27 - 1
13-32893420-C-A c.274C>A p.Q92K Missense 3/27 - 3
13-32893420-C-G c.274C>G p.Q92E Missense 3/27 - 3
13-32893418-AC-A c.274del p.Q92Nfs*4 Frameshift 3/27 - 3
13-32893420-CA-GT c.274_275delinsGT p.Q92V Missense 3/27 - 1
13-32893420-CAA-AAC c.274_276delinsAAC p.Q92N Missense 3/27 - 1
13-32893421-A-G c.275A>G p.Q92R Missense 3/27 - 6
13-32893421-A-C c.275A>C p.Q92P Missense 3/27 - 3
13-32893421-A-T c.275A>T p.Q92L Missense 3/27 - 3
13-32893421-A-ACCAT c.275_276insCCAT p.Q92Hfs*10 Frameshift 3/27 - 3
13-32893422-A-G c.276A>G p.Q92= Synonymous 3/27 - 2
13-32893420-C-CA c.276dup p.S93Ifs*8 Frameshift 3/27 - 14
13-32893422-A-C c.276A>C p.Q92H Missense 3/27 - 5
13-32893422-A-T c.276A>T p.Q92H Missense 3/27 - 5
13-32893423-T-C c.277T>C p.S93P Missense 3/27 - 11
13-32893423-AT-A c.277del p.S93Lfs*3 Frameshift 3/27 - 1
13-32893423-T-G c.277T>G p.S93A Missense 3/27 - 11
13-32893423-T-A c.277T>A p.S93T Missense 3/27 - 3
13-32893424-C-T c.278C>T p.S93F Missense 3/27 - 5
13-32893424-C-A c.278C>A p.S93Y Missense 3/27 - 3
13-32893424-C-G c.278C>G p.S93C Missense 3/27 - 3
13-32893424-CT-GG c.278_279delinsGG p.S93W Missense 3/27 - 1
13-32893425-T-G c.279T>G p.S93= Synonymous 3/27 - 1
13-32893425-T-C c.279T>C p.S93= Synonymous 3/27 - 1
13-32893425-T-A c.279T>A p.S93= Synonymous 3/27 - 1
13-32893426-C-T c.280C>T p.P94S Missense 3/27 - 23
13-32893426-C-A c.280C>A p.P94T Missense 3/27 - 3
13-32893426-C-G c.280C>G p.P94A Missense 3/27 - 4
13-32893426-CCT-TAA c.280_282delinsTAA p.P94* Nonsense 3/27 - 1
13-32893425-TC-T c.281del p.P94Lfs*2 Frameshift 3/27 - 3
13-32893427-C-A c.281C>A p.P94H Missense 3/27 - 5
13-32893427-C-G c.281C>G p.P94R Missense 3/27 - 3
13-32893427-C-T c.281C>T p.P94L Missense 3/27 - 6
13-32893428-T-G c.282T>G p.P94= Synonymous 3/27 - 3
13-32893428-T-A c.282T>A p.P94= Synonymous 3/27 - 3
13-32893428-T-C c.282T>C p.P94= Synonymous 3/27 - 3
13-32893429-G-A c.283G>A p.V95I Missense 3/27 - 10
13-32893429-TGTAA-T c.283_286del p.V95Kfs*3 Frameshift 3/27 - 1
13-32893429-G-C c.283G>C p.V95L Missense 3/27 - 3
13-32893429-G-T c.283G>T p.V95L Missense 3/27 - 3
13-32893429-GTA-TTT c.283_285delinsTTT p.V95F Missense 3/27 - 1
13-32893429-GT-AC c.283_284inv p.V95T Missense 3/27 - 1
13-32893429-TGTA-T c.283_285del p.V95del InFrameDeletion 3/27 - 1
13-32893430-T-A c.284T>A p.V95E Missense 3/27 - 3
13-32893430-T-C c.284T>C p.V95A Missense 3/27 - 3
13-32893430-T-G c.284T>G p.V95G Missense 3/27 - 3
13-32893430-TA-AC c.284_285delinsAC p.V95D Missense 3/27 - 1
13-32893432-A-C c.286A>C p.K96Q Missense 3/27 - 3
13-32893432-A-G c.286A>G p.K96E Missense 3/27 - 3
13-32893432-A-T c.286A>T p.K96* Nonsense 3/27 - 1
13-32893433-A-C c.287A>C p.K96T Missense 3/27 - 4
13-32893433-A-G c.287A>G p.K96R Missense 3/27 - 3
13-32893433-A-T c.287A>T p.K96I Missense 3/27 - 3
13-32893434-A-C c.288A>C p.K96N Missense 3/27 - 3
13-32893434-A-T c.288A>T p.K96N Missense 3/27 - 4
13-32893435-G-T c.289G>T p.E97* Nonsense 3/27 - 33
13-32893435-G-C c.289G>C p.E97Q Missense 3/27 - 6
13-32893435-G-A c.289G>A p.E97K Missense 3/27 - 3
13-32893435-GAA-TGT c.289_291delinsTGT p.E97C Missense 3/27 - 1
13-32893432-AAAG-A c.289_291del p.E97del InFrameDeletion 3/27 - 1
13-32893436-A-T c.290A>T p.E97V Missense 3/27 - 5
13-32893436-A-C c.290A>C p.E97A Missense 3/27 - 3
13-32893436-A-G c.290A>G p.E97G Missense 3/27 - 3
13-32893437-A-T c.291A>T p.E97D Missense 3/27 - 7
13-32893437-A-C c.291A>C p.E97D Missense 3/27 - 3
13-32893433-AAGAATT-A c.291_296del p.E97_L98del InFrameDeletion 3/27 - 3
13-32893437-A-G c.291A>G p.E97= Synonymous 3/27 - 1
13-32893438-T-A c.292T>A p.L98I Missense 3/27 - 6
13-32893438-T-G c.292T>G p.L98V Missense 3/27 - 7
13-32893439-T-G c.293T>G p.L98* Nonsense 3/27 - 5
13-32893439-T-A c.293T>A p.L98* Nonsense 3/27 - 1
13-32893439-T-C c.293T>C p.L98S Missense 3/27 - 7
13-32893440-A-G c.294A>G p.L98= Synonymous 3/27 - 2
13-32893440-A-C c.294A>C p.L98F Missense 3/27 - 5
13-32893440-A-T c.294A>T p.L98F Missense 3/27 - 8
13-32893441-G-A c.295G>A p.D99N Missense 3/27 - 5
13-32893441-G-C c.295G>C p.D99H Missense 3/27 - 3
13-32893441-G-T c.295G>T p.D99Y Missense 3/27 - 3
13-32893442-A-G c.296A>G p.D99G Missense 3/27 - 7
13-32893442-A-C c.296A>C p.D99A Missense 3/27 - 3
13-32893442-A-T c.296A>T p.D99V Missense 3/27 - 3
13-32893443-T-C c.297T>C p.D99= Synonymous 3/27 - 1
13-32893443-T-A c.297T>A p.D99E Missense 3/27 - 3
13-32893443-T-G c.297T>G p.D99E Missense 3/27 - 3
13-32893444-A-T c.298A>T p.K100* Nonsense 3/27 - 10
13-32893444-A-G c.298A>G p.K100E Missense 3/27 - 9
13-32893444-A-C c.298A>C p.K100Q Missense 3/27 - 3
13-32893444-TAAA-T c.298_300del p.K100del InFrameDeletion 3/27 - 1
13-32893445-A-G c.299A>G p.K100R Missense 3/27 - 4
13-32893445-A-C c.299A>C p.K100T Missense 3/27 - 3
13-32893445-A-T c.299A>T p.K100I Missense 3/27 - 3
13-32893446-A-C c.300A>C p.K100N Missense 3/27 - 3
13-32893446-A-T c.300A>T p.K100N Missense 3/27 - 3
13-32893447-T-G c.301T>G p.F101V Missense 3/27 - 4
13-32893447-T-A c.301T>A p.F101I Missense 3/27 - 3
13-32893447-T-C c.301T>C p.F101L Missense 3/27 - 3
13-32893448-T-A c.302T>A p.F101Y Missense 3/27 - 3
13-32893448-T-C c.302T>C p.F101S Missense 3/27 - 3
13-32893448-T-G c.302T>G p.F101C Missense 3/27 - 4
13-32893448-TCA-CC c.302_304delinsCC p.F101Sfs*3 Frameshift 3/27 - 1
13-32893449-C-A c.303C>A p.F101L Missense 3/27 - 8
13-32893449-C-G c.303C>G p.F101L Missense 3/27 - 3
13-32893449-C-T c.303C>T p.F101= Synonymous 3/27 - 1
13-32893450-A-T c.304A>T p.K102* Nonsense 3/27 - 4
13-32893450-A-C c.304A>C p.K102Q Missense 3/27 - 3
13-32893450-A-G c.304A>G p.K102E Missense 3/27 - 3
13-32893451-A-G c.305A>G p.K102R Missense 3/27 - 7
13-32893451-A-C c.305A>C p.K102T Missense 3/27 - 3
13-32893451-A-T c.305A>T p.K102I Missense 3/27 - 3
13-32893449-C-CA c.306dup p.L103Ifs*10 Frameshift 3/27 - 5
13-32893449-CA-C c.306del p.K102Nfs*2 Frameshift 3/27 - 3
13-32893452-A-C c.306A>C p.K102N Missense 3/27 - 4
13-32893452-A-T c.306A>T p.K102N Missense 3/27 - 4
13-32893453-T-A c.307T>A p.L103I Missense 3/27 - 6
13-32893453-T-C c.307T>C p.L103= Synonymous 3/27 - 1
13-32893455-A-G c.309A>G p.L103= Synonymous 3/27 - 2
13-32893453-T-G c.307T>G p.L103V Missense 3/27 - 3
13-32893454-T-C c.308T>C p.L103S Missense 3/27 - 4
13-32893454-T-A c.308T>A p.L103* Nonsense 3/27 - 1
13-32893454-T-G c.308T>G p.L103* Nonsense 3/27 - 1
13-32893452-A-AT c.308dup p.L103Ffs*10 Frameshift 3/27 - 3
13-32893455-A-C c.309A>C p.L103F Missense 3/27 - 3
13-32893455-A-T c.309A>T p.L103F Missense 3/27 - 4
13-32893456-G-A c.310G>A p.D104N Missense 3/27 - 5
13-32893456-G-C c.310G>C p.D104H Missense 3/27 - 6
13-32893455-A-AG c.310dup p.D104Gfs*9 Frameshift 3/27 - 1
13-32893456-G-T c.310G>T p.D104Y Missense 3/27 - 3
13-32893456-AGAC-A c.310_312del p.D104del InFrameDeletion 3/27 - 1
13-32893457-A-C c.311A>C p.D104A Missense 3/27 - 3
13-32893457-A-G c.311A>G p.D104G Missense 3/27 - 3
13-32893457-A-T c.311A>T p.D104V Missense 3/27 - 4
13-32893458-C-T c.312C>T p.D104= Synonymous 3/27 - 1
13-32893458-C-G c.312C>G p.D104E Missense 3/27 - 5
13-32893458-C-A c.312C>A p.D104E Missense 3/27 - 4
13-32893459-CTTA-C c.313_315del p.L105del InFrameDeletion 3/27 - 1
13-32893459-T-G c.313T>G p.L105V Missense 3/27 - 4
13-32893459-T-A c.313T>A p.L105I Missense 3/27 - 3
13-32893458-C-CTAA c.313_314insAAT p.D104_L105ins* InFrameInsertion 3/27 - 2
13-32893459-TT-GC c.313_314delinsGC p.L105A Missense 3/27 - 1
13-32893460-T-G c.314T>G p.L105* Nonsense 3/27 - 14
13-32893460-T-C c.314T>C p.L105S Missense 3/27 - 4
13-32893460-T-A c.314T>A p.L105* Nonsense 3/27 - 5
13-32893458-CT-C c.314del p.L105* Frameshift 3/27 - 3
13-32893460-T-TA c.315dup p.G106Rfs*7 SpliceDonorInsertion 3/27 - 1
13-32893461-A-AC c.315_316insC p.G106Rfs*7 SpliceDonorInsertion 3/27 - 1
13-32893461-A-AT c.315_316insT p.G106Wfs*7 SpliceDonorInsertion 3/27 - 1
13-32893461-A-C c.315A>C p.L105F Missense 3/27 - 3
13-32893461-A-T c.315A>T p.L105F Missense 3/27 - 3
13-32893462-G-A c.316G>A p.G106R Missense 3/27 - 12
13-32893462-G-C c.316G>C p.G106R Missense 3/27 - 7
13-32893462-G-T c.316G>T p.G106* Nonsense 3/27 - 2
13-32893459-TTAGG-T c.316_316+3del - SpliceDonorDeletion 3/27 3/26 1
13-32893463-G-T c.316+1G>T - IntronicSNV - 3/26 8
13-32893463-G-A c.316+1G>A - IntronicSNV - 3/26 7
13-32893463-G-C c.316+1G>C - IntronicSNV - 3/26 4
13-32893464-T-C c.316+2T>C - IntronicSNV - 3/26 13
13-32893464-T-G c.316+2T>G - IntronicSNV - 3/26 2
13-32893465-A-C c.316+3A>C - IntronicSNV - 3/26 2
13-32893465-A-G c.316+3A>G - IntronicSNV - 3/26 1
13-32893464-TA-T c.316+4del - IntronicDeletion - 3/26 6
13-32893467-G-C c.316+5G>C - IntronicSNV - 3/26 11
13-32893467-G-A c.316+5G>A - IntronicSNV - 3/26 10
13-32893465-AAGT-A c.316+5_316+7del - IntronicDeletion - 3/26 1
13-32893468-T-C c.316+6T>C - IntronicSNV - 3/26 4
13-32893468-T-A c.316+6T>A - IntronicSNV - 3/26 1
13-32893468-T-G c.316+6T>G - IntronicSNV - 3/26 1
13-32893471-T-A c.316+9T>A - IntronicSNV - 3/26 1
13-32893474-A-G c.316+12A>G - IntronicSNV - 3/26 3
13-32893475-A-G c.316+13A>G - IntronicSNV - 3/26 3
13-32893480-G-A c.316+18G>A - IntronicSNV - 3/26 2
13-32893481-T-G c.316+19T>G - IntronicSNV - 3/26 1
13-32893487-G-A c.316+25G>A - IntronicSNV - 3/26 1
13-32893495-C-G c.316+33C>G - IntronicSNV - 3/26 1
13-32893535-A-G c.316+73A>G - IntronicSNV - 3/26 1
13-32893570-A-G c.316+108A>G - IntronicSNV - 3/26 1
13-32893572-T-G c.316+110T>G - IntronicSNV - 3/26 1
13-32893583-T-C c.316+121T>C - IntronicSNV - 3/26 1
13-32893693-T-C c.316+231T>C - IntronicSNV - 3/26 1
13-32893791-A-G c.316+329A>G - IntronicSNV - 3/26 6
13-32893830-A-G c.316+368A>G - IntronicSNV - 3/26 1
13-32894484-G-A c.316+1022G>A - IntronicSNV - 3/26 2
13-32894515-C-T c.316+1053C>T - IntronicSNV - 3/26 1
13-32895131-A-G c.316+1669A>G - IntronicSNV - 3/26 1
13-32895377-G-C c.316+1915G>C - IntronicSNV - 3/26 4
13-32895658-A-G c.316+2196A>G - IntronicSNV - 3/26 1
13-32896846-G-A c.317-2367G>A - IntronicSNV - 3/26 3
13-32898192-A-G c.317-1021A>G - IntronicSNV - 3/26 1
13-32899041-C-A c.317-172C>A - IntronicSNV - 3/26 1
13-32899041-C-T c.317-172C>T - IntronicSNV - 3/26 1
13-32899042-G-A c.317-171G>A - IntronicSNV - 3/26 1
13-32899133-T-C c.317-80T>C - IntronicSNV - 3/26 1
13-32899159-C-G c.317-54C>G - IntronicSNV - 3/26 1
13-32899191-C-T c.317-22C>T - IntronicSNV - 3/26 2
13-32899201-G-A c.317-12G>A - IntronicSNV - 3/26 1
13-32899201-G-T c.317-12G>T - IntronicSNV - 3/26 1
13-32899203-A-G c.317-10A>G - IntronicSNV - 3/26 4
13-32899213-G-T c.317G>T p.G106V Missense 4/27 - 4
13-32899213-G-A c.317G>A p.G106E Missense 4/27 - 5
13-32899213-G-C c.317G>C p.G106A Missense 4/27 - 4
13-32899213-GA-AC c.317_318delinsAC p.G106D Missense 4/27 - 1
13-32899214-A-T c.318A>T p.G106= Synonymous 4/27 - 1
13-32899214-A-G c.318A>G p.G106= Synonymous 4/27 - 1
13-32899214-A-C c.318A>C p.G106= Synonymous 4/27 - 1
13-32899214-GAAGGAATGTTCCCAATAGTAGACATAAAAGTCTTCGCACAGTGAAAACTAAAATGGATC-G c.321_379del p.R107Sfs*3 Unclassified 4/27 - 2
13-32899215-A-G c.319A>G p.R107G Missense 4/27 - 3
13-32899215-A-T c.319A>T p.R107W Missense 4/27 - 5
13-32899215-AGG-TGT c.319_321delinsTGT p.R107C Missense 4/27 - 1
13-32899216-G-C c.320G>C p.R107T Missense 4/27 - 7
13-32899216-G-A c.320G>A p.R107K Missense 4/27 - 4
13-32899216-G-T c.320G>T p.R107M Missense 4/27 - 3
13-32899216-GG-TC c.320_321delinsTC p.R107I Missense 4/27 - 1
13-32899215-AG-A c.321del p.N108Mfs*13 Frameshift 4/27 - 1
13-32899217-G-C c.321G>C p.R107S Missense 4/27 - 3
13-32899217-G-T c.321G>T p.R107S Missense 4/27 - 3
13-32899217-G-A c.321G>A p.R107= Synonymous 4/27 - 1
13-32899218-A-G c.322A>G p.N108D Missense 4/27 - 4
13-32899218-A-C c.322A>C p.N108H Missense 4/27 - 17
13-32899218-A-T c.322A>T p.N108Y Missense 4/27 - 3
13-32899219-A-G c.323A>G p.N108S Missense 4/27 - 14
13-32899219-A-C c.323A>C p.N108T Missense 4/27 - 8
13-32899219-A-T c.323A>T p.N108I Missense 4/27 - 3
13-32899220-T-C c.324T>C p.N108= Synonymous 4/27 - 3
13-32899220-T-A c.324T>A p.N108K Missense 4/27 - 5
13-32899220-T-G c.324T>G p.N108K Missense 4/27 - 3
13-32899221-G-A c.325G>A p.V109I Missense 4/27 - 6
13-32899221-G-C c.325G>C p.V109L Missense 4/27 - 4
13-32899221-G-T c.325G>T p.V109F Missense 4/27 - 3
13-32899221-TG-T c.325del p.V109Ffs*12 Frameshift 4/27 - 1
13-32899222-T-C c.326T>C p.V109A Missense 4/27 - 4
13-32899222-T-A c.326T>A p.V109D Missense 4/27 - 3
13-32899222-T-G c.326T>G p.V109G Missense 4/27 - 3
13-32899224-C-G c.328C>G p.P110A Missense 4/27 - 14
13-32899224-CC-GA c.328_329delinsGA p.P110D Missense 4/27 - 2
13-32899224-CC-GG c.328_329inv p.P110G Missense 4/27 - 1
13-32899224-C-T c.328C>T p.P110S Missense 4/27 - 4
13-32899224-C-A c.328C>A p.P110T Missense 4/27 - 6
13-32899225-C-G c.329C>G p.P110R Missense 4/27 - 4
13-32899223-TCC-T c.329_330del p.P110Qfs*2 Frameshift 4/27 - 1
13-32899225-C-A c.329C>A p.P110H Missense 4/27 - 3
13-32899225-C-T c.329C>T p.P110L Missense 4/27 - 3
13-32899223-T-TC c.330dup p.N111Qfs*2 Frameshift 4/27 - 1
13-32899226-C-T c.330C>T p.P110= Synonymous 4/27 - 1
13-32899226-C-G c.330C>G p.P110= Synonymous 4/27 - 1
13-32899226-C-A c.330C>A p.P110= Synonymous 4/27 - 1
13-32899227-A-G c.331A>G p.N111D Missense 4/27 - 7
13-32899227-A-C c.331A>C p.N111H Missense 4/27 - 3
13-32899227-A-T c.331A>T p.N111Y Missense 4/27 - 3
13-32899227-AA-GC c.331_332delinsGC p.N111A Missense 4/27 - 1
13-32899228-A-G c.332A>G p.N111S Missense 4/27 - 6
13-32899228-A-C c.332A>C p.N111T Missense 4/27 - 3
13-32899228-A-T c.332A>T p.N111I Missense 4/27 - 4
13-32899229-T-A c.333T>A p.N111K Missense 4/27 - 4
13-32899229-T-G c.333T>G p.N111K Missense 4/27 - 4
13-32899226-CAATAGTAGACATA-C c.333_345del p.N111Kfs*6 Frameshift 4/27 - 1
13-32899230-A-C c.334A>C p.S112R Missense 4/27 - 3
13-32899230-A-G c.334A>G p.S112G Missense 4/27 - 3
13-32899230-A-T c.334A>T p.S112C Missense 4/27 - 3
13-32899230-AG-CT c.334_335inv p.S112L Missense 4/27 - 2
13-32899230-AG-GC c.334_335delinsGC p.S112A Missense 4/27 - 1
13-32899231-AG-A c.335del p.S112Ifs*9 Frameshift 4/27 - 2
13-32899231-G-A c.335G>A p.S112N Missense 4/27 - 8
13-32899231-G-C c.335G>C p.S112T Missense 4/27 - 3
13-32899231-G-T c.335G>T p.S112I Missense 4/27 - 3
13-32899230-A-AG c.335dup p.S112Rfs*2 Frameshift 4/27 - 1
13-32899232-T-A c.336T>A p.S112R Missense 4/27 - 3
13-32899232-T-G c.336T>G p.S112R Missense 4/27 - 3
13-32899233-A-T c.337A>T p.R113* Nonsense 4/27 - 2
13-32899233-A-G c.337A>G p.R113G Missense 4/27 - 4
13-32899233-AG-CA c.337_338delinsCA p.R113Q Missense 4/27 - 1
13-32899233-A-C c.337A>C p.R113= Synonymous 4/27 - 1
13-32899233-AG-GC c.337_338delinsGC p.R113A Missense 4/27 - 2
13-32899233-TAGA-T c.337_339del p.R113del InFrameDeletion 4/27 - 1
13-32899234-G-A c.338G>A p.R113K Missense 4/27 - 12
13-32899234-G-C c.338G>C p.R113T Missense 4/27 - 3
13-32899234-G-T c.338G>T p.R113I Missense 4/27 - 3
13-32899235-A-C c.339A>C p.R113S Missense 4/27 - 3
13-32899235-A-T c.339A>T p.R113S Missense 4/27 - 3
13-32899236-C-T c.340C>T p.H114Y Missense 4/27 - 10
13-32899236-C-A c.340C>A p.H114N Missense 4/27 - 6
13-32899236-C-G c.340C>G p.H114D Missense 4/27 - 3
13-32899237-A-G c.341A>G p.H114R Missense 4/27 - 13
13-32899237-A-T c.341A>T p.H114L Missense 4/27 - 5
13-32899237-A-C c.341A>C p.H114P Missense 4/27 - 5
13-32899238-T-C c.342T>C p.H114= Synonymous 4/27 - 1
13-32899236-CAT-C c.342_343del p.H114Qfs*9 Frameshift 4/27 - 5
13-32899238-T-A c.342T>A p.H114Q Missense 4/27 - 4
13-32899238-T-G c.342T>G p.H114Q Missense 4/27 - 4
13-32899237-A-AT c.342dup p.K115* Nonsense 4/27 - 3
13-32899239-A-G c.343A>G p.K115E Missense 4/27 - 14
13-32899239-A-C c.343A>C p.K115Q Missense 4/27 - 3
13-32899239-A-T c.343A>T p.K115* Nonsense 4/27 - 1
13-32899239-AA-GC c.343_344delinsGC p.K115A Missense 4/27 - 1
13-32899240-A-C c.344A>C p.K115T Missense 4/27 - 4
13-32899240-A-G c.344A>G p.K115R Missense 4/27 - 3
13-32899240-A-T c.344A>T p.K115I Missense 4/27 - 5
13-32899241-A-C c.345A>C p.K115N Missense 4/27 - 4
13-32899241-A-T c.345A>T p.K115N Missense 4/27 - 3
13-32899238-TAA-T c.345_346del p.L117Sfs*6 Frameshift 4/27 - 1
13-32899238-TA-T c.346del p.S116Vfs*5 Frameshift 4/27 - 2
13-32899242-A-C c.346A>C p.S116R Missense 4/27 - 3
13-32899242-A-G c.346A>G p.S116G Missense 4/27 - 3
13-32899242-A-T c.346A>T p.S116C Missense 4/27 - 3
13-32899242-AG-CT c.346_347inv p.S116L Missense 4/27 - 1
13-32899242-AG-TT c.346_347delinsTT p.S116F Missense 4/27 - 1
13-32899243-G-A c.347G>A p.S116N Missense 4/27 - 5
13-32899243-G-C c.347G>C p.S116T Missense 4/27 - 3
13-32899243-G-T c.347G>T p.S116I Missense 4/27 - 3
13-32899243-AG-A c.347del p.S116Ifs*5 Frameshift 4/27 - 1
13-32899244-T-C c.348T>C p.S116= Synonymous 4/27 - 1
13-32899244-T-G c.348T>G p.S116R Missense 4/27 - 7
13-32899244-T-A c.348T>A p.S116R Missense 4/27 - 3
13-32899243-GTC-G c.349_350del p.L117Sfs*6 Frameshift 4/27 - 4
13-32899245-C-T c.349C>T p.L117F Missense 4/27 - 7
13-32899245-C-A c.349C>A p.L117I Missense 4/27 - 4
13-32899245-C-G c.349C>G p.L117V Missense 4/27 - 3
13-32899245-CTT-GAG c.349_351delinsGAG p.L117E Missense 4/27 - 1
13-32899245-CT-AG c.349_350inv p.L117S Missense 4/27 - 1
13-32899246-T-A c.350T>A p.L117H Missense 4/27 - 3
13-32899246-T-C c.350T>C p.L117P Missense 4/27 - 3
13-32899246-T-G c.350T>G p.L117R Missense 4/27 - 3
13-32899247-TTC-T c.351_352del p.R118Hfs*5 Frameshift 4/27 - 3
13-32899248-C-T c.352C>T p.R118C Missense 4/27 - 23
13-32899248-C-G c.352C>G p.R118G Missense 4/27 - 4
13-32899248-C-A c.352C>A p.R118S Missense 4/27 - 5
13-32899248-CGC-ATG c.352_354delinsATG p.R118M Missense 4/27 - 1
13-32899249-G-A c.353G>A p.R118H Missense 4/27 - 32
13-32899249-G-T c.353G>T p.R118L Missense 4/27 - 11
13-32899249-G-C c.353G>C p.R118P Missense 4/27 - 5
13-32899249-GC-AA c.353_354delinsAA p.R118Q Missense 4/27 - 1
13-32899250-GC-G c.354del p.T119Qfs*2 Frameshift 4/27 - 1
13-32899251-A-G c.355A>G p.T119A Missense 4/27 - 4
13-32899251-A-T c.355A>T p.T119S Missense 4/27 - 4
13-32899251-A-C c.355A>C p.T119P Missense 4/27 - 3
13-32899252-C-T c.356C>T p.T119I Missense 4/27 - 7
13-32899252-C-A c.356C>A p.T119K Missense 4/27 - 4
13-32899252-C-G c.356C>G p.T119R Missense 4/27 - 3
13-32899253-A-G c.357A>G p.T119= Synonymous 4/27 - 2
13-32899253-A-T c.357A>T p.T119= Synonymous 4/27 - 2
13-32899253-A-C c.357A>C p.T119= Synonymous 4/27 - 2
13-32899254-G-A c.358G>A p.V120M Missense 4/27 - 7
13-32899254-G-T c.358G>T p.V120L Missense 4/27 - 4
13-32899254-G-C c.358G>C p.V120L Missense 4/27 - 3
13-32899255-T-C c.359T>C p.V120A Missense 4/27 - 4
13-32899255-T-A c.359T>A p.V120E Missense 4/27 - 3
13-32899255-T-G c.359T>G p.V120G Missense 4/27 - 3
13-32899256-G-GT c.360_361insT p.K121* Nonsense 4/27 - 1
13-32899257-A-G c.361A>G p.K121E Missense 4/27 - 5
13-32899257-A-C c.361A>C p.K121Q Missense 4/27 - 3
13-32899257-A-T c.361A>T p.K121* Nonsense 4/27 - 1
13-32899258-AA-TG c.362_363delinsTG p.K121M Missense 4/27 - 3
13-32899258-A-C c.362A>C p.K121T Missense 4/27 - 3
13-32899258-A-G c.362A>G p.K121R Missense 4/27 - 3
13-32899258-A-T c.362A>T p.K121I Missense 4/27 - 3
13-32899259-A-G c.363A>G p.K121= Synonymous 4/27 - 2
13-32899259-A-C c.363A>C p.K121N Missense 4/27 - 5
13-32899259-A-T c.363A>T p.K121N Missense 4/27 - 5
13-32899260-A-G c.364A>G p.T122A Missense 4/27 - 7
13-32899260-A-C c.364A>C p.T122P Missense 4/27 - 3
13-32899260-A-T c.364A>T p.T122S Missense 4/27 - 3
13-32899256-GA-G c.364del p.T122Lfs*14 Frameshift 4/27 - 3
13-32899256-G-GA c.364dup p.T122Nfs*2 Frameshift 4/27 - 1
13-32899261-C-T c.365C>T p.T122I Missense 4/27 - 5
13-32899261-C-G c.365C>G p.T122S Missense 4/27 - 4
13-32899261-CT-GG c.365_366delinsGG p.T122R Missense 4/27 - 1
13-32899261-C-A c.365C>A p.T122N Missense 4/27 - 4
13-32899261-C-CT c.366dup p.K123* Nonsense 4/27 - 1
13-32899263-A-G c.367A>G p.K123E Missense 4/27 - 7
13-32899263-A-C c.367A>C p.K123Q Missense 4/27 - 3
13-32899263-A-T c.367A>T p.K123* Nonsense 4/27 - 1
13-32899263-AA-GC c.367_368delinsGC p.K123A Missense 4/27 - 1
13-32899263-AAA-TGG c.367_369delinsTGG p.K123W Missense 4/27 - 1
13-32899263-TAAAA-T c.367_370del p.K123Wfs*12 Frameshift 4/27 - 2
13-32899264-A-G c.368A>G p.K123R Missense 4/27 - 5
13-32899264-AAAATG-A c.368_372del p.K123Rfs*5 Frameshift 4/27 - 6
13-32899264-A-C c.368A>C p.K123T Missense 4/27 - 3
13-32899264-A-T c.368A>T p.K123I Missense 4/27 - 3
13-32899265-A-C c.369A>C p.K123N Missense 4/27 - 6
13-32899265-A-T c.369A>T p.K123N Missense 4/27 - 3
13-32899262-T-TA c.370dup p.M124Nfs*6 Frameshift 4/27 - 1
13-32899266-A-G c.370A>G p.M124V Missense 4/27 - 9
13-32899262-TA-T c.370del p.M124Wfs*12 Frameshift 4/27 - 9
13-32899264-AAATGG-A c.370_374del p.M124Sfs*4 Frameshift 4/27 - 4
13-32899266-A-T c.370A>T p.M124L Missense 4/27 - 4
13-32899266-A-C c.370A>C p.M124L Missense 4/27 - 7
13-32899267-T-C c.371T>C p.M124T Missense 4/27 - 10
13-32899267-T-A c.371T>A p.M124K Missense 4/27 - 3
13-32899267-T-G c.371T>G p.M124R Missense 4/27 - 4
13-32899267-TG-GC c.371_372delinsGC p.M124S Missense 4/27 - 1
13-32899268-G-A c.372G>A p.M124I Missense 4/27 - 3
13-32899268-G-C c.372G>C p.M124I Missense 4/27 - 3
13-32899268-G-T c.372G>T p.M124I Missense 4/27 - 4
13-32899269-G-T c.373G>T p.D125Y Missense 4/27 - 4
13-32899269-G-A c.373G>A p.D125N Missense 4/27 - 3
13-32899269-G-C c.373G>C p.D125H Missense 4/27 - 3
13-32899270-A-G c.374A>G p.D125G Missense 4/27 - 15
13-32899270-A-C c.374A>C p.D125A Missense 4/27 - 3
13-32899270-A-T c.374A>T p.D125V Missense 4/27 - 3
13-32899271-T-A c.375T>A p.D125E Missense 4/27 - 11
13-32899271-T-G c.375T>G p.D125E Missense 4/27 - 3
13-32899272-C-T c.376C>T p.Q126* Nonsense 4/27 - 8
13-32899272-C-G c.376C>G p.Q126E Missense 4/27 - 8
13-32899272-C-A c.376C>A p.Q126K Missense 4/27 - 4
13-32899272-CA-GC c.376_377delinsGC p.Q126A Missense 4/27 - 1
13-32899273-A-G c.377A>G p.Q126R Missense 4/27 - 5
13-32899273-A-C c.377A>C p.Q126P Missense 4/27 - 4
13-32899273-A-T c.377A>T p.Q126L Missense 4/27 - 3
13-32899274-A-G c.378A>G p.Q126= Synonymous 4/27 - 3
13-32899274-A-C c.378A>C p.Q126H Missense 4/27 - 3
13-32899274-A-T c.378A>T p.Q126H Missense 4/27 - 3
13-32899272-C-CA c.378dup p.A127Sfs*3 Frameshift 4/27 - 3
13-32899275-G-T c.379G>T p.A127S Missense 4/27 - 13
13-32899275-G-A c.379G>A p.A127T Missense 4/27 - 9
13-32899275-G-C c.379G>C p.A127P Missense 4/27 - 4
13-32899276-C-T c.380C>T p.A127V Missense 4/27 - 4
13-32899276-C-A c.380C>A p.A127E Missense 4/27 - 3
13-32899276-C-G c.380C>G p.A127G Missense 4/27 - 3
13-32899277-A-C c.381A>C p.A127= Synonymous 4/27 - 1
13-32899277-A-G c.381A>G p.A127= Synonymous 4/27 - 2
13-32899277-A-T c.381A>T p.A127= Synonymous 4/27 - 1
13-32899278-G-A c.382G>A p.D128N Missense 4/27 - 4
13-32899278-G-C c.382G>C p.D128H Missense 4/27 - 3
13-32899278-G-T c.382G>T p.D128Y Missense 4/27 - 4
13-32899279-A-G c.383A>G p.D128G Missense 4/27 - 15
13-32899279-A-C c.383A>C p.D128A Missense 4/27 - 3
13-32899279-A-T c.383A>T p.D128V Missense 4/27 - 3
13-32899280-T-A c.384T>A p.D128E Missense 4/27 - 4
13-32899280-T-G c.384T>G p.D128E Missense 4/27 - 4
13-32899281-G-T c.385G>T p.D129Y Missense 4/27 - 5
13-32899281-G-A c.385G>A p.D129N Missense 4/27 - 3
13-32899281-G-C c.385G>C p.D129H Missense 4/27 - 3
13-32899282-A-G c.386A>G p.D129G Missense 4/27 - 4
13-32899282-A-T c.386A>T p.D129V Missense 4/27 - 5
13-32899282-A-C c.386A>C p.D129A Missense 4/27 - 3
13-32899283-T-A c.387T>A p.D129E Missense 4/27 - 3
13-32899283-T-G c.387T>G p.D129E Missense 4/27 - 4
13-32899284-G-A c.388G>A p.V130I Missense 4/27 - 6
13-32899284-G-C c.388G>C p.V130L Missense 4/27 - 3
13-32899284-G-T c.388G>T p.V130F Missense 4/27 - 3
13-32899285-GTTTCCTGTCCACTTCTAA-G c.389_406del p.V130_N136delinsD MultiAAMissense 4/27 - 1
13-32899285-T-C c.389T>C p.V130A Missense 4/27 - 4
13-32899285-T-A c.389T>A p.V130D Missense 4/27 - 3
13-32899285-T-G c.389T>G p.V130G Missense 4/27 - 3
13-32899284-GT-G c.391del p.S131Pfs*5 Frameshift 4/27 - 7
13-32899287-TC-CT c.391_392delinsCT p.S131L Missense 4/27 - 1
13-32899287-T-G c.391T>G p.S131A Missense 4/27 - 6
13-32899287-T-A c.391T>A p.S131T Missense 4/27 - 3
13-32899287-T-C c.391T>C p.S131P Missense 4/27 - 3
13-32899288-C-A c.392C>A p.S131Y Missense 4/27 - 5
13-32899288-C-G c.392C>G p.S131C Missense 4/27 - 3
13-32899288-C-T c.392C>T p.S131F Missense 4/27 - 4
13-32899289-C-A c.393C>A p.S131= Synonymous 4/27 - 1
13-32899290-T-C c.394T>C p.C132R Missense 4/27 - 9
13-32899290-T-A c.394T>A p.C132S Missense 4/27 - 4
13-32899291-G-C c.395G>C p.C132S Missense 4/27 - 4
13-32899290-TG-GC c.394_395delinsGC p.C132A Missense 4/27 - 1
13-32899290-T-G c.394T>G p.C132G Missense 4/27 - 3
13-32899291-G-T c.395G>T p.C132F Missense 4/27 - 5
13-32899291-G-A c.395G>A p.C132Y Missense 4/27 - 5
13-32899292-T-A c.396T>A p.C132* Nonsense 4/27 - 13
13-32899292-T-C c.396T>C p.C132= Synonymous 4/27 - 1
13-32899292-T-G c.396T>G p.C132W Missense 4/27 - 3
13-32899293-C-T c.397C>T p.P133S Missense 4/27 - 10
13-32899293-C-A c.397C>A p.P133T Missense 4/27 - 7
13-32899293-C-G c.397C>G p.P133A Missense 4/27 - 3
13-32899294-C-A c.398C>A p.P133Q Missense 4/27 - 4
13-32899294-C-G c.398C>G p.P133R Missense 4/27 - 5
13-32899294-C-T c.398C>T p.P133L Missense 4/27 - 3
13-32899296-C-A c.400C>A p.L134I Missense 4/27 - 4
13-32899296-C-G c.400C>G p.L134V Missense 4/27 - 3
13-32899296-C-T c.400C>T p.L134F Missense 4/27 - 3
13-32899297-CTT-C c.401_402del p.L134Pfs*6 Frameshift 4/27 - 1
13-32899297-T-C c.401T>C p.L134P Missense 4/27 - 4
13-32899297-T-A c.401T>A p.L134H Missense 4/27 - 3
13-32899297-T-G c.401T>G p.L134R Missense 4/27 - 3
13-32899298-T-G c.402T>G p.L134= Synonymous 4/27 - 1
13-32899299-C-T c.403C>T p.L135= Synonymous 4/27 - 4
13-32899299-C-A c.403C>A p.L135I Missense 4/27 - 4
13-32899299-C-G c.403C>G p.L135V Missense 4/27 - 6
13-32899299-CTA-TTT c.403_405delinsTTT p.L135F Missense 4/27 - 1
13-32899298-T-TCTAAATTC c.403_410dup p.C138* Nonsense 4/27 - 1
13-32899300-T-A c.404T>A p.L135Q Missense 4/27 - 7
13-32899300-T-C c.404T>C p.L135P Missense 4/27 - 3
13-32899300-T-G c.404T>G p.L135R Missense 4/27 - 3
13-32899297-TTCTAAATTCTTG-T c.405_416del p.N136_L139del InFrameDeletion 4/27 - 1
13-32899301-A-T c.405A>T p.L135= Synonymous 4/27 - 1
13-32899301-A-G c.405A>G p.L135= Synonymous 4/27 - 1
13-32899301-A-C c.405A>C p.L135= Synonymous 4/27 - 1
13-32899302-A-C c.406A>C p.N136H Missense 4/27 - 3
13-32899302-A-G c.406A>G p.N136D Missense 4/27 - 3
13-32899302-A-T c.406A>T p.N136Y Missense 4/27 - 2
13-32899300-TA-T c.407del p.N136Ifs*16 Frameshift 4/27 - 12
13-32899303-A-G c.407A>G p.N136S Missense 4/27 - 4
13-32899303-AAT-A c.407_408del p.N136Ifs*4 Frameshift 4/27 - 1
13-32899303-A-C c.407A>C p.N136T Missense 4/27 - 3
13-32899303-A-T c.407A>T p.N136I Missense 4/27 - 4
13-32899304-T-C c.408T>C p.N136= Synonymous 4/27 - 1
13-32899304-T-A c.408T>A p.N136K Missense 4/27 - 3
13-32899304-T-G c.408T>G p.N136K Missense 4/27 - 3
13-32899305-T-G c.409T>G p.S137A Missense 4/27 - 5
13-32899305-TC-GA c.409_410inv p.S137D Missense 4/27 - 1
13-32899305-T-A c.409T>A p.S137T Missense 4/27 - 3
13-32899305-T-C c.409T>C p.S137P Missense 4/27 - 3
13-32899305-TC-AA c.409_410delinsAA p.S137N Missense 4/27 - 1
13-32899306-C-T c.410C>T p.S137F Missense 4/27 - 5
13-32899306-TC-T c.410del p.S137Ffs*15 Frameshift 4/27 - 5
13-32899306-C-G c.410C>G p.S137C Missense 4/27 - 5
13-32899306-C-A c.410C>A p.S137Y Missense 4/27 - 4
13-32899307-T-G c.411T>G p.S137= Synonymous 4/27 - 1
13-32899307-T-C c.411T>C p.S137= Synonymous 4/27 - 1
13-32899307-T-A c.411T>A p.S137= Synonymous 4/27 - 1
13-32899308-TG-GC c.412_413delinsGC p.C138A Missense 4/27 - 2
13-32899308-T-A c.412T>A p.C138S Missense 4/27 - 3
13-32899308-T-C c.412T>C p.C138R Missense 4/27 - 3
13-32899308-T-G c.412T>G p.C138G Missense 4/27 - 3
13-32899307-T-TTAA c.412_413insAAT p.S137_C138ins* InFrameInsertion 4/27 - 2
13-32899309-G-A c.413G>A p.C138Y Missense 4/27 - 7
13-32899309-G-T c.413G>T p.C138F Missense 4/27 - 11
13-32899304-TTCTTG-T c.413_417del p.C138* Frameshift 4/27 - 4
13-32899309-G-C c.413G>C p.C138S Missense 4/27 - 3
13-32899310-T-C c.414T>C p.C138= Synonymous 4/27 - 1
13-32899310-T-A c.414T>A p.C138* Nonsense 4/27 - 5
13-32899310-T-G c.414T>G p.C138W Missense 4/27 - 3
13-32899310-T-TTAA c.414_415insTAA p.C138_L139ins* InFrameInsertion 4/27 - 2
13-32899311-C-A c.415C>A p.L139I Missense 4/27 - 5
13-32899311-C-G c.415C>G p.L139V Missense 4/27 - 11
13-32899311-C-T c.415C>T p.L139F Missense 4/27 - 7
13-32899312-T-C c.416T>C p.L139P Missense 4/27 - 9
13-32899312-T-A c.416T>A p.L139H Missense 4/27 - 3
13-32899312-T-G c.416T>G p.L139R Missense 4/27 - 4
13-32899314-A-G c.418A>G p.S140G Missense 4/27 - 8
13-32899314-A-C c.418A>C p.S140R Missense 4/27 - 4
13-32899314-A-T c.418A>T p.S140C Missense 4/27 - 3
13-32899314-AGT-GAG c.418_420delinsGAG p.S140E Missense 4/27 - 1
13-32899315-G-A c.419G>A p.S140N Missense 4/27 - 4
13-32899315-G-C c.419G>C p.S140T Missense 4/27 - 3
13-32899315-G-T c.419G>T p.S140I Missense 4/27 - 3
13-32899315-AG-A c.419del p.S140Mfs*12 Frameshift 4/27 - 3
13-32899316-GT-G c.420del p.S140Rfs*12 Frameshift 4/27 - 1
13-32899315-G-GT c.420dup p.E141* Nonsense 4/27 - 1
13-32899316-T-A c.420T>A p.S140R Missense 4/27 - 4
13-32899316-T-G c.420T>G p.S140R Missense 4/27 - 5
13-32899317-G-T c.421G>T p.E141* Nonsense 4/27 - 3
13-32899317-G-A c.421G>A p.E141K Missense 4/27 - 4
13-32899317-G-C c.421G>C p.E141Q Missense 4/27 - 3
13-32899318-A-C c.422A>C p.E141A Missense 4/27 - 4
13-32899318-A-G c.422A>G p.E141G Missense 4/27 - 4
13-32899318-A-T c.422A>T p.E141V Missense 4/27 - 3
13-32899319-A-C c.423A>C p.E141D Missense 4/27 - 3
13-32899319-A-T c.423A>T p.E141D Missense 4/27 - 3
13-32899320-A-C c.424A>C p.S142R Missense 4/27 - 6
13-32899320-A-G c.424A>G p.S142G Missense 4/27 - 4
13-32899320-A-T c.424A>T p.S142C Missense 4/27 - 3
13-32899317-GA-G c.424del p.S142Vfs*10 Frameshift 4/27 - 1
13-32899320-A-ATGAG c.424_425insTGAG p.S142Mfs*17 SpliceDonorInsertion 4/27 - 1
13-32899321-G-T c.425G>T p.S142I Missense 4/27 - 24
13-32899321-G-A c.425G>A p.S142N Missense 4/27 - 15
13-32899321-G-C c.425G>C p.S142T Missense 4/27 - 3
13-32899322-G-A c.425+1G>A - IntronicSNV - 4/26 5
13-32899320-AG-A c.425+1del - Frameshift - 4/26 1
13-32899323-T-C c.425+2T>C - IntronicSNV - 4/26 7
13-32899323-T-A c.425+2T>A - IntronicSNV - 4/26 1
13-32899323-T-G c.425+2T>G - IntronicSNV - 4/26 1
13-32899324-A-G c.425+3A>G - IntronicSNV - 4/26 2
13-32899322-GTATGATGAAGCTATTATAT-G c.425+4_425+22del - IntronicDeletion - 4/26 4
13-32899325-T-G c.425+4T>G - IntronicSNV - 4/26 4
13-32899327-A-G c.425+6A>G - IntronicSNV - 4/26 1
13-32899350-T-C c.425+29T>C - IntronicSNV - 4/26 1
13-32899350-T-G c.425+29T>G - IntronicSNV - 4/26 1
13-32899354-A-G c.425+33A>G - IntronicSNV - 4/26 6
13-32899357-A-G c.425+36A>G - IntronicSNV - 4/26 1
13-32899387-A-G c.425+66A>G - IntronicSNV - 4/26 1
13-32899388-A-C c.425+67A>C - IntronicSNV - 4/26 18
13-32899401-T-C c.425+80T>C - IntronicSNV - 4/26 1
13-32899407-G-A c.425+86G>A - IntronicSNV - 4/26 1
13-32899411-A-G c.425+90A>G - IntronicSNV - 4/26 1
13-32899419-G-GC c.425+99dup - IntronicInsertion - 4/26 1
13-32899468-G-T c.425+147G>T - IntronicSNV - 4/26 2
13-32899567-G-C c.425+246G>C - IntronicSNV - 4/26 5
13-32899567-G-A c.425+246G>A - IntronicSNV - 4/26 2
13-32899685-G-C c.425+364G>C - IntronicSNV - 4/26 1
13-32899685-G-GT c.425+378dup - IntronicInsertion - 4/26 1
13-32899878-C-T c.426-360C>T - IntronicSNV - 4/26 1
13-32900149-T-C c.426-89T>C - IntronicSNV - 4/26 6
13-32900154-G-C c.426-84G>C - IntronicSNV - 4/26 1
13-32900154-G-T c.426-84G>T - IntronicSNV - 4/26 1
13-32900201-T-A c.426-37T>A - IntronicSNV - 4/26 1
13-32900236-A-G c.426-2A>G - IntronicSNV - 4/26 2
13-32900236-A-T c.426-2A>T - IntronicSNV - 4/26 2
13-32900237-G-A c.426-1G>A - IntronicSNV - 4/26 1
13-32900238-T-C c.426T>C p.S142= Synonymous 5/27 - 1
13-32900238-GT-G c.426del p.P143Lfs*9 Frameshift 5/27 - 1
13-32900237-G-GT c.426dup p.P143Sfs*15 SpliceAcceptorInsertion 5/27 - 1
13-32900238-T-TA c.426_427insA p.P143Tfs*15 SpliceAcceptorInsertion 5/27 - 1
13-32900238-T-TG c.426_427insG p.P143Afs*15 SpliceAcceptorInsertion 5/27 - 1
13-32900238-T-A c.426T>A p.S142R Missense 5/27 - 3
13-32900238-T-G c.426T>G p.S142R Missense 5/27 - 3
13-32900238-GTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAGGTATGATTA-G c.426_475+9del - Unclassified 5/27 5/26 1
13-32900235-TAGTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTC-T c.426_475del p.P143Gfs*23 Unclassified 5/27 - 1
13-32900239-C-T c.427C>T p.P143S Missense 5/27 - 10
13-32900239-CC-TT c.427_428delinsTT p.P143F Missense 5/27 - 1
13-32900239-C-A c.427C>A p.P143T Missense 5/27 - 3
13-32900239-C-G c.427C>G p.P143A Missense 5/27 - 3
13-32900240-C-G c.428C>G p.P143R Missense 5/27 - 12
13-32900238-T-TC c.428dup p.V144Cfs*14 Frameshift 5/27 - 6
13-32900238-TC-T c.428del p.P143Lfs*9 Frameshift 5/27 - 3
13-32900240-C-A c.428C>A p.P143H Missense 5/27 - 3
13-32900240-C-T c.428C>T p.P143L Missense 5/27 - 5
13-32900241-CT-C c.429del p.V144Lfs*8 Frameshift 5/27 - 5
13-32900242-G-T c.430G>T p.V144F Missense 5/27 - 8
13-32900242-G-A c.430G>A p.V144I Missense 5/27 - 8
13-32900242-G-C c.430G>C p.V144L Missense 5/27 - 5
13-32900242-GT-TG c.430_431delinsTG p.V144C Missense 5/27 - 1
13-32900243-T-A c.431T>A p.V144D Missense 5/27 - 4
13-32900243-T-C c.431T>C p.V144A Missense 5/27 - 4
13-32900243-T-G c.431T>G p.V144G Missense 5/27 - 3
13-32900242-GT-G c.432del p.V145Ffs*7 Frameshift 5/27 - 1
13-32900240-CTGT-C c.433_435del p.V145del InFrameDeletion 5/27 - 11
13-32900243-TTG-T c.433_434del p.V145Sfs*12 Frameshift 5/27 - 1
13-32900245-G-A c.433G>A p.V145I Missense 5/27 - 6
13-32900245-G-C c.433G>C p.V145L Missense 5/27 - 3
13-32900245-G-T c.433G>T p.V145F Missense 5/27 - 3
13-32900243-TTGTTC-T c.433_437del p.V145Tfs*11 Frameshift 5/27 - 3
13-32900245-GT-AC c.433_434inv p.V145T Missense 5/27 - 1
13-32900246-T-A c.434T>A p.V145D Missense 5/27 - 3
13-32900246-T-C c.434T>C p.V145A Missense 5/27 - 3
13-32900246-T-G c.434T>G p.V145G Missense 5/27 - 3
13-32900247-T-G c.435T>G p.V145= Synonymous 5/27 - 1
13-32900248-C-A c.436C>A p.L146I Missense 5/27 - 3
13-32900248-C-G c.436C>G p.L146V Missense 5/27 - 3
13-32900249-T-C c.437T>C p.L146P Missense 5/27 - 10
13-32900249-T-A c.437T>A p.L146Q Missense 5/27 - 3
13-32900249-T-G c.437T>G p.L146R Missense 5/27 - 3
13-32900250-A-T c.438A>T p.L146= Synonymous 5/27 - 1
13-32900250-A-G c.438A>G p.L146= Synonymous 5/27 - 3
13-32900250-A-C c.438A>C p.L146= Synonymous 5/27 - 1
13-32900248-C-T c.436C>T p.L146= Synonymous 5/27 - 1
13-32900250-TA-T c.438del p.Q147Nfs*5 Frameshift 5/27 - 3
13-32900251-C-T c.439C>T p.Q147* Nonsense 5/27 - 15
13-32900251-C-A c.439C>A p.Q147K Missense 5/27 - 3
13-32900251-C-G c.439C>G p.Q147E Missense 5/27 - 3
13-32900252-A-G c.440A>G p.Q147R Missense 5/27 - 34
13-32900252-A-T c.440A>T p.Q147L Missense 5/27 - 13
13-32900252-A-C c.440A>C p.Q147P Missense 5/27 - 3
13-32900253-A-G c.441A>G p.Q147= Synonymous 5/27 - 6
13-32900253-A-T c.441A>T p.Q147H Missense 5/27 - 8
13-32900253-A-C c.441A>C p.Q147H Missense 5/27 - 3
13-32900251-CA-C c.441del p.Q147Hfs*5 Frameshift 5/27 - 3
13-32900254-T-C c.442T>C p.C148R Missense 5/27 - 15
13-32900254-AT-A c.442del p.C148Vfs*4 Frameshift 5/27 - 1
13-32900254-TG-GC c.442_443delinsGC p.C148A Missense 5/27 - 1
13-32900254-T-A c.442T>A p.C148S Missense 5/27 - 6
13-32900254-T-G c.442T>G p.C148G Missense 5/27 - 3
13-32900255-G-A c.443G>A p.C148Y Missense 5/27 - 8
13-32900254-T-TG c.443dup p.C148Wfs*10 Frameshift 5/27 - 3
13-32900255-G-T c.443G>T p.C148F Missense 5/27 - 4
13-32900255-G-C c.443G>C p.C148S Missense 5/27 - 3
13-32900256-T-C c.444T>C p.C148= Synonymous 5/27 - 1
13-32900256-T-A c.444T>A p.C148* Nonsense 5/27 - 1
13-32900256-T-G c.444T>G p.C148W Missense 5/27 - 3
13-32900257-A-C c.445A>C p.T149P Missense 5/27 - 4
13-32900257-A-G c.445A>G p.T149A Missense 5/27 - 5
13-32900257-AC-GA c.445_446delinsGA p.T149E Missense 5/27 - 1
13-32900257-ACA-GAC c.445_447delinsGAC p.T149D Missense 5/27 - 1
13-32900257-A-T c.445A>T p.T149S Missense 5/27 - 3
13-32900258-C-T c.446C>T p.T149I Missense 5/27 - 7
13-32900258-C-A c.446C>A p.T149K Missense 5/27 - 3
13-32900258-C-G c.446C>G p.T149R Missense 5/27 - 3
13-32900259-A-G c.447A>G p.T149= Synonymous 5/27 - 3
13-32900259-A-T c.447A>T p.T149= Synonymous 5/27 - 3
13-32900259-A-C c.447A>C p.T149= Synonymous 5/27 - 3
13-32900260-C-T c.448C>T p.H150Y Missense 5/27 - 8
13-32900260-C-A c.448C>A p.H150N Missense 5/27 - 5
13-32900260-C-G c.448C>G p.H150D Missense 5/27 - 3
13-32900261-A-G c.449A>G p.H150R Missense 5/27 - 11
13-32900261-A-C c.449A>C p.H150P Missense 5/27 - 7
13-32900261-A-T c.449A>T p.H150L Missense 5/27 - 3
13-32900262-T-A c.450T>A p.H150Q Missense 5/27 - 3
13-32900262-T-G c.450T>G p.H150Q Missense 5/27 - 4
13-32900263-G-C c.451G>C p.V151L Missense 5/27 - 5
13-32900263-G-A c.451G>A p.V151I Missense 5/27 - 8
13-32900263-G-T c.451G>T p.V151L Missense 5/27 - 5
13-32900261-A-ATG c.451_452dup p.T152* Nonsense 5/27 - 1
13-32900263-GTA-TTT c.451_453delinsTTT p.V151F Missense 5/27 - 1
13-32900263-GTA-ATG c.451_453delinsATG p.V151M Missense 5/27 - 1
13-32900264-T-C c.452T>C p.V151A Missense 5/27 - 12
13-32900264-T-A c.452T>A p.V151E Missense 5/27 - 3
13-32900264-T-G c.452T>G p.V151G Missense 5/27 - 3
13-32900264-T-TATA c.453_454insTAA p.V151_T152ins* InFrameInsertion 5/27 - 2
13-32900264-TAAC-T c.454_456del p.T152del InFrameDeletion 5/27 - 1
13-32900266-A-G c.454A>G p.T152A Missense 5/27 - 10
13-32900266-ACA-TGT c.454_456inv p.T152C Missense 5/27 - 3
13-32900266-A-T c.454A>T p.T152S Missense 5/27 - 7
13-32900266-A-C c.454A>C p.T152P Missense 5/27 - 3
13-32900267-C-T c.455C>T p.T152I Missense 5/27 - 4
13-32900267-C-A c.455C>A p.T152K Missense 5/27 - 13
13-32900267-C-G c.455C>G p.T152R Missense 5/27 - 3
13-32900268-A-G c.456A>G p.T152= Synonymous 5/27 - 2
13-32900268-A-T c.456A>T p.T152= Synonymous 5/27 - 2
13-32900268-A-C c.456A>C p.T152= Synonymous 5/27 - 2
13-32900265-AAC-A c.456_457del p.P153Tfs*4 Frameshift 5/27 - 1
13-32900269-C-T c.457C>T p.P153S Missense 5/27 - 7
13-32900269-C-A c.457C>A p.P153T Missense 5/27 - 7
13-32900269-C-G c.457C>G p.P153A Missense 5/27 - 3
13-32900270-C-T c.458C>T p.P153L Missense 5/27 - 9
13-32900270-C-A c.458C>A p.P153Q Missense 5/27 - 3
13-32900270-C-G c.458C>G p.P153R Missense 5/27 - 3
13-32900271-A-T c.459A>T p.P153= Synonymous 5/27 - 1
13-32900271-A-G c.459A>G p.P153= Synonymous 5/27 - 2
13-32900271-A-C c.459A>C p.P153= Synonymous 5/27 - 1
13-32900272-C-T c.460C>T p.Q154* Nonsense 5/27 - 5
13-32900272-C-A c.460C>A p.Q154K Missense 5/27 - 4
13-32900272-C-G c.460C>G p.Q154E Missense 5/27 - 3
13-32900273-A-G c.461A>G p.Q154R Missense 5/27 - 11
13-32900273-A-C c.461A>C p.Q154P Missense 5/27 - 3
13-32900273-A-T c.461A>T p.Q154L Missense 5/27 - 4
13-32900272-CAA-C c.462_463del p.D156* Frameshift 5/27 - 13
13-32900274-A-G c.462A>G p.Q154= Synonymous 5/27 - 1
13-32900274-A-T c.462A>T p.Q154H Missense 5/27 - 6
13-32900274-A-C c.462A>C p.Q154H Missense 5/27 - 3
13-32900275-A-T c.463A>T p.R155* Nonsense 5/27 - 2
13-32900275-A-G c.463A>G p.R155G Missense 5/27 - 4
13-32900275-AGA-TGT c.463_465delinsTGT p.R155C Missense 5/27 - 1
13-32900275-AGA-TGG c.463_465delinsTGG p.R155W Missense 5/27 - 4
13-32900275-AG-CA c.463_464delinsCA p.R155Q Missense 5/27 - 3
13-32900275-AG-CT c.463_464inv p.R155L Missense 5/27 - 2
13-32900275-AG-CC c.463_464delinsCC p.R155P Missense 5/27 - 1
13-32900276-G-A c.464G>A p.R155K Missense 5/27 - 13
13-32900276-AGAGAT-A c.464_468del p.R155Kfs*26 Frameshift 5/27 - 9
13-32900276-G-C c.464G>C p.R155T Missense 5/27 - 18
13-32900276-G-T c.464G>T p.R155I Missense 5/27 - 11
13-32900276-G-GATA c.465_466insTAA p.R155_D156ins* InFrameInsertion 5/27 - 4
13-32900277-A-C c.465A>C p.R155S Missense 5/27 - 3
13-32900277-A-T c.465A>T p.R155S Missense 5/27 - 4
13-32900277-A-AT c.465_466insT p.D156* Nonsense 5/27 - 4
13-32900274-AAG-A c.466_467del p.D156* Frameshift 5/27 - 5
13-32900278-GAT-TAA c.466_468delinsTAA p.D156* Nonsense 5/27 - 1
13-32900278-G-A c.466G>A p.D156N Missense 5/27 - 5
13-32900278-G-C c.466G>C p.D156H Missense 5/27 - 3
13-32900278-G-T c.466G>T p.D156Y Missense 5/27 - 3
13-32900279-A-G c.467A>G p.D156G Missense 5/27 - 21
13-32900279-A-C c.467A>C p.D156A Missense 5/27 - 8
13-32900279-A-T c.467A>T p.D156V Missense 5/27 - 8
13-32900280-T-G c.468T>G p.D156E Missense 5/27 - 6
13-32900280-T-A c.468T>A p.D156E Missense 5/27 - 7
13-32900279-A-AT c.468dup p.K157* Nonsense 5/27 - 9
13-32900281-TAA-T c.469_470del p.K157Vfs*25 Frameshift 5/27 - 16
13-32900281-A-T c.469A>T p.K157* Nonsense 5/27 - 9
13-32900281-A-AT c.469_470insT p.K157Ifs*26 Frameshift 5/27 - 4
13-32900281-A-C c.469A>C p.K157Q Missense 5/27 - 3
13-32900281-A-G c.469A>G p.K157E Missense 5/27 - 3
13-32900281-AA-GC c.469_470delinsGC p.K157A Missense 5/27 - 1
13-32900280-TAAGTC-T c.470_474del p.K157Sfs*24 SpliceDonorDeletion 5/27 - 25
13-32900282-AAG-A c.470_471del p.K157Ifs*25 Frameshift 5/27 - 2
13-32900282-A-C c.470A>C p.K157T Missense 5/27 - 4
13-32900280-TA-T c.470del p.K157Sfs*15 Frameshift 5/27 - 4
13-32900280-T-TA c.470dup p.S158Vfs*25 Frameshift 5/27 - 4
13-32900280-TAAGTCAGGTATGATTAAAAACAATGCTTTTTATTCTTAGAATACTAGAAATGTTAATAA-T c.471_476-38del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 5/27 5/26 1
13-32900282-A-G c.470A>G p.K157R Missense 5/27 - 3
13-32900282-A-T c.470A>T p.K157M Missense 5/27 - 3
13-32900283-G-GA c.471_472insA p.S158Ifs*25 Frameshift 5/27 - 4
13-32900283-AG-A c.471del p.K157Nfs*15 Frameshift 5/27 - 4
13-32900283-G-C c.471G>C p.K157N Missense 5/27 - 4
13-32900283-G-T c.471G>T p.K157N Missense 5/27 - 4
13-32900284-T-G c.472T>G p.S158A Missense 5/27 - 6
13-32900284-TCA-GAC c.472_474delinsGAC p.S158D Missense 5/27 - 2
13-32900284-T-C c.472T>C p.S158P Missense 5/27 - 12
13-32900284-T-A c.472T>A p.S158T Missense 5/27 - 4
13-32900284-TC-AT c.472_473delinsAT p.S158I Missense 5/27 - 1
13-32900284-TC-GT c.472_473delinsGT p.S158V Missense 5/27 - 1
13-32900285-C-T c.473C>T p.S158L Missense 5/27 - 13
13-32900285-C-A c.473C>A p.S158* Nonsense 5/27 - 10
13-32900285-C-G c.473C>G p.S158* Nonsense 5/27 - 7
13-32900286-A-AT c.474_475insT p.V159Cfs*24 SpliceDonorInsertion 5/27 - 2
13-32900285-C-CA c.474dup p.V159Sfs*24 SpliceDonorInsertion 5/27 - 2
13-32900286-A-AC c.474_475insC p.V159Rfs*24 SpliceDonorInsertion 5/27 - 2
13-32900286-A-T c.474A>T p.S158= Synonymous 5/27 - 1
13-32900287-G-A c.475G>A p.V159M Missense 5/27 - 32
13-32900287-G-C c.475G>C p.V159L Missense 5/27 - 10
13-32900287-G-T c.475G>T p.V159L Missense 5/27 - 4
13-32900288-G-A c.475+1G>A - IntronicSNV - 5/26 16
13-32900288-G-T c.475+1G>T - IntronicSNV - 5/26 18
13-32900289-T-C c.475+2T>C - IntronicSNV - 5/26 1
13-32900289-T-A c.475+2T>A - IntronicSNV - 5/26 2
13-32900290-A-G c.475+3A>G - IntronicSNV - 5/26 4
13-32900290-A-T c.475+3A>T - IntronicSNV - 5/26 5
13-32900291-AT-A c.475+4del - IntronicDeletion - 5/26 7
13-32900292-G-C c.475+5G>C - IntronicSNV - 5/26 1
13-32900293-A-AT c.475+8dup - IntronicInsertion - 5/26 1
13-32900296-A-T c.475+9A>T - IntronicSNV - 5/26 2
13-32900300-A-C c.475+13A>C - IntronicSNV - 5/26 1
13-32900295-TA-T c.475+13del - IntronicDeletion - 5/26 1
13-32900301-C-T c.475+14C>T - IntronicSNV - 5/26 1
13-32900312-A-G c.475+25A>G - IntronicSNV - 5/26 1
13-32900313-T-C c.475+26T>C - IntronicSNV - 5/26 1
13-32900315-C-T c.475+28C>T - IntronicSNV - 5/26 1
13-32900376-C-A c.476-3C>A - IntronicSNV - 5/26 2
13-32900376-C-T c.476-3C>T - IntronicSNV - 5/26 2
13-32900377-A-C c.476-2A>C - IntronicSNV - 5/26 2
13-32900377-A-G c.476-2A>G - IntronicSNV - 5/26 2
13-32900378-G-A c.476-1G>A - IntronicSNV - 5/26 1
13-32900378-G-C c.476-1G>C - IntronicSNV - 5/26 1
13-32900378-G-T c.476-1G>T - IntronicSNV - 5/26 1
13-32900379-T-C c.476T>C p.V159A Missense 6/27 - 10
13-32900379-T-A c.476T>A p.V159E Missense 6/27 - 7
13-32900379-T-G c.476T>G p.V159G Missense 6/27 - 3
13-32900376-CAGTGGTATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGA-C c.476_516del p.V159Gfs*10 Unclassified 6/27 - 1
13-32900380-G-A c.477G>A p.V159= Synonymous 6/27 - 1
13-32900380-G-C c.477G>C p.V159= Synonymous 6/27 - 1
13-32900380-G-T c.477G>T p.V159= Synonymous 6/27 - 2
13-32900381-G-A c.478G>A p.V160I Missense 6/27 - 7
13-32900381-GTA-CTT c.478_480delinsCTT p.V160L Missense 6/27 - 2
13-32900381-G-C c.478G>C p.V160L Missense 6/27 - 4
13-32900381-G-T c.478G>T p.V160L Missense 6/27 - 4
13-32900382-T-C c.479T>C p.V160A Missense 6/27 - 4
13-32900382-T-A c.479T>A p.V160E Missense 6/27 - 3
13-32900382-T-G c.479T>G p.V160G Missense 6/27 - 3
13-32900383-A-G c.480A>G p.V160= Synonymous 6/27 - 2
13-32900384-TG-GC c.481_482delinsGC p.C161A Missense 6/27 - 1
13-32900384-T-A c.481T>A p.C161S Missense 6/27 - 4
13-32900384-T-C c.481T>C p.C161R Missense 6/27 - 4
13-32900384-T-G c.481T>G p.C161G Missense 6/27 - 3
13-32900384-ATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAGGTAAATATTCTACCTGGTTTATT-A c.482_516+24del - SpliceDonorDeletion 6/27 6/26 1
13-32900385-G-A c.482G>A p.C161Y Missense 6/27 - 11
13-32900385-TG-T c.482del p.C161Lfs*11 Frameshift 6/27 - 1
13-32900385-G-C c.482G>C p.C161S Missense 6/27 - 4
13-32900385-G-T c.482G>T p.C161F Missense 6/27 - 3
13-32900386-T-A c.483T>A p.C161* Nonsense 6/27 - 5
13-32900386-T-G c.483T>G p.C161W Missense 6/27 - 11
13-32900386-T-C c.483T>C p.C161= Synonymous 6/27 - 1
13-32900387-G-A c.484G>A p.G162R Missense 6/27 - 7
13-32900387-G-C c.484G>C p.G162R Missense 6/27 - 7
13-32900387-GG-AA c.484_485delinsAA p.G162K Missense 6/27 - 1
13-32900387-G-T c.484G>T p.G162W Missense 6/27 - 3
13-32900388-G-T c.485G>T p.G162V Missense 6/27 - 4
13-32900386-TGG-T c.485_486del p.G162Efs*20 Frameshift 6/27 - 2
13-32900388-G-A c.485G>A p.G162E Missense 6/27 - 4
13-32900388-G-C c.485G>C p.G162A Missense 6/27 - 3
13-32900386-TG-T c.486del p.S163Vfs*9 Frameshift 6/27 - 8
13-32900387-GGGA-G c.486_488del p.S163del InFrameDeletion 6/27 - 3
13-32900389-G-A c.486G>A p.G162= Synonymous 6/27 - 1
13-32900388-GGA-G c.487_488del p.S163Ffs*19 Frameshift 6/27 - 1
13-32900390-A-C c.487A>C p.S163R Missense 6/27 - 6
13-32900390-A-G c.487A>G p.S163G Missense 6/27 - 5
13-32900390-A-T c.487A>T p.S163C Missense 6/27 - 4
13-32900390-AG-GC c.487_488delinsGC p.S163A Missense 6/27 - 1
13-32900390-AG-TT c.487_488delinsTT p.S163F Missense 6/27 - 1
13-32900391-AGT-A c.488_489del p.S163Ifs*19 Frameshift 6/27 - 4
13-32900391-G-C c.488G>C p.S163T Missense 6/27 - 5
13-32900391-G-A c.488G>A p.S163N Missense 6/27 - 4
13-32900391-G-T c.488G>T p.S163I Missense 6/27 - 3
13-32900390-A-AG c.488dup p.S163Rfs*20 Frameshift 6/27 - 3
13-32900392-T-C c.489T>C p.S163= Synonymous 6/27 - 1
13-32900392-T-TG c.489_490insG p.L164Vfs*19 Frameshift 6/27 - 5
13-32900392-T-G c.489T>G p.S163R Missense 6/27 - 7
13-32900392-T-A c.489T>A p.S163R Missense 6/27 - 3
13-32900391-G-GTTAAATGC c.490_491insAAATGCTT p.L164* Nonsense 6/27 - 1
13-32900393-T-C c.490T>C p.L164= Synonymous 6/27 - 1
13-32900395-G-A c.492G>A p.L164= Synonymous 6/27 - 2
13-32900393-T-A c.490T>A p.L164M Missense 6/27 - 3
13-32900393-T-G c.490T>G p.L164V Missense 6/27 - 3
13-32900393-TT-CC c.490_491delinsCC p.L164P Missense 6/27 - 1
13-32900394-T-A c.491T>A p.L164* Nonsense 6/27 - 8
13-32900394-T-C c.491T>C p.L164S Missense 6/27 - 3
13-32900394-T-G c.491T>G p.L164W Missense 6/27 - 3
13-32900391-GT-G c.491del p.L164Cfs*8 Frameshift 6/27 - 1
13-32900395-G-T c.492G>T p.L164F Missense 6/27 - 4
13-32900395-G-C c.492G>C p.L164F Missense 6/27 - 3
13-32900396-T-C c.493T>C p.F165L Missense 6/27 - 7
13-32900396-T-A c.493T>A p.F165I Missense 6/27 - 3
13-32900396-T-G c.493T>G p.F165V Missense 6/27 - 3
13-32900397-T-A c.494T>A p.F165Y Missense 6/27 - 3
13-32900397-T-C c.494T>C p.F165S Missense 6/27 - 3
13-32900397-T-G c.494T>G p.F165C Missense 6/27 - 3
13-32900397-TTTCATA-T c.494_499del p.F165_T167delinsS MultiAAMissense 6/27 - 1
13-32900395-GT-G c.495del p.H166Ifs*6 Frameshift 6/27 - 4
13-32900398-T-C c.495T>C p.F165= Synonymous 6/27 - 1
13-32900398-T-A c.495T>A p.F165L Missense 6/27 - 4
13-32900398-T-G c.495T>G p.F165L Missense 6/27 - 3
13-32900399-C-T c.496C>T p.H166Y Missense 6/27 - 12
13-32900399-C-A c.496C>A p.H166N Missense 6/27 - 4
13-32900399-C-G c.496C>G p.H166D Missense 6/27 - 3
13-32900400-A-T c.497A>T p.H166L Missense 6/27 - 10
13-32900400-A-G c.497A>G p.H166R Missense 6/27 - 8
13-32900400-A-C c.497A>C p.H166P Missense 6/27 - 3
13-32900401-T-A c.498T>A p.H166Q Missense 6/27 - 3
13-32900401-T-G c.498T>G p.H166Q Missense 6/27 - 3
13-32900402-A-G c.499A>G p.T167A Missense 6/27 - 4
13-32900402-A-C c.499A>C p.T167P Missense 6/27 - 3
13-32900402-A-T c.499A>T p.T167S Missense 6/27 - 3
13-32900403-C-T c.500C>T p.T167I Missense 6/27 - 7
13-32900403-C-A c.500C>A p.T167K Missense 6/27 - 3
13-32900403-C-G c.500C>G p.T167R Missense 6/27 - 3
13-32900403-CA-AC c.500_501delinsAC p.T167N Missense 6/27 - 1
13-32900404-A-G c.501A>G p.T167= Synonymous 6/27 - 1
13-32900404-A-T c.501A>T p.T167= Synonymous 6/27 - 1
13-32900404-A-C c.501A>C p.T167= Synonymous 6/27 - 1
13-32900405-C-A c.502C>A p.P168T Missense 6/27 - 21
13-32900405-C-G c.502C>G p.P168A Missense 6/27 - 12
13-32900405-C-T c.502C>T p.P168S Missense 6/27 - 7
13-32900406-C-A c.503C>A p.P168Q Missense 6/27 - 3
13-32900406-C-G c.503C>G p.P168R Missense 6/27 - 3
13-32900406-C-T c.503C>T p.P168L Missense 6/27 - 4
13-32900407-A-G c.504A>G p.P168= Synonymous 6/27 - 2
13-32900408-A-C c.505A>C p.K169Q Missense 6/27 - 8
13-32900408-A-G c.505A>G p.K169E Missense 6/27 - 7
13-32900408-A-T c.505A>T p.K169* Nonsense 6/27 - 1
13-32900409-A-G c.506A>G p.K169R Missense 6/27 - 25
13-32900406-C-CA c.506dup p.F170Vfs*13 Frameshift 6/27 - 1
13-32900409-A-C c.506A>C p.K169T Missense 6/27 - 3
13-32900409-A-T c.506A>T p.K169M Missense 6/27 - 3
13-32900406-CA-C c.506del p.K169Sfs*3 Frameshift 6/27 - 3
13-32900410-G-A c.507G>A p.K169= Synonymous 6/27 - 1
13-32900410-G-C c.507G>C p.K169N Missense 6/27 - 3
13-32900410-G-T c.507G>T p.K169N Missense 6/27 - 3
13-32900411-T-A c.508T>A p.F170I Missense 6/27 - 4
13-32900411-T-G c.508T>G p.F170V Missense 6/27 - 6
13-32900411-T-C c.508T>C p.F170L Missense 6/27 - 4
13-32900412-T-A c.509T>A p.F170Y Missense 6/27 - 2
13-32900412-T-C c.509T>C p.F170S Missense 6/27 - 4
13-32900412-T-G c.509T>G p.F170C Missense 6/27 - 3
13-32900413-T-C c.510T>C p.F170= Synonymous 6/27 - 1
13-32900413-T-A c.510T>A p.F170L Missense 6/27 - 4
13-32900413-T-G c.510T>G p.F170L Missense 6/27 - 4
13-32900414-GTG-ATC c.511_513delinsATC p.V171I Missense 6/27 - 1
13-32900414-G-C c.511G>C p.V171L Missense 6/27 - 4
13-32900414-G-A c.511G>A p.V171M Missense 6/27 - 4
13-32900414-G-T c.511G>T p.V171L Missense 6/27 - 3
13-32900414-G-GT c.512dup p.K172Efs*11 Frameshift 6/27 - 5
13-32900415-T-A c.512T>A p.V171E Missense 6/27 - 3
13-32900415-T-C c.512T>C p.V171A Missense 6/27 - 4
13-32900415-T-G c.512T>G p.V171G Missense 6/27 - 3
13-32900416-G-C c.513G>C p.V171= Synonymous 6/27 - 2
13-32900416-G-A c.513G>A p.V171= Synonymous 6/27 - 2
13-32900416-G-T c.513G>T p.V171= Synonymous 6/27 - 5
13-32900416-TG-T c.513del p.K172Rfs*13 Frameshift 6/27 - 1
13-32900417-A-G c.514A>G p.K172E Missense 6/27 - 5
13-32900417-A-C c.514A>C p.K172Q Missense 6/27 - 3
13-32900417-A-T c.514A>T p.K172* Nonsense 6/27 - 1
13-32900418-A-G c.515A>G p.K172R Missense 6/27 - 9
13-32900418-A-C c.515A>C p.K172T Missense 6/27 - 3
13-32900418-A-T c.515A>T p.K172M Missense 6/27 - 3
13-32900418-A-AC c.515_516insC p.K172Nfs*11 SpliceDonorInsertion 6/27 - 3
13-32900419-G-A c.516G>A p.K172= Synonymous 6/27 - 14
13-32900419-G-T c.516G>T p.K172N Missense 6/27 - 6
13-32900419-G-C c.516G>C p.K172N Missense 6/27 - 3
13-32900420-G-A c.516+1G>A - IntronicSNV - 6/26 19
13-32900420-G-T c.516+1G>T - IntronicSNV - 6/26 18
13-32900420-G-C c.516+1G>C - IntronicSNV - 6/26 6
13-32900418-AG-A c.516+1del - IntronicDeletion - 6/26 3
13-32900421-T-C c.516+2T>C - IntronicSNV - 6/26 8
13-32900421-T-A c.516+2T>A - IntronicSNV - 6/26 4
13-32900421-T-G c.516+2T>G - IntronicSNV - 6/26 2
13-32900422-A-G c.516+3A>G - IntronicSNV - 6/26 1
13-32900422-A-T c.516+3A>T - IntronicSNV - 6/26 1
13-32900421-TAA-T c.516+4_516+5del - IntronicDeletion - 6/26 2
13-32900426-A-G c.516+7A>G - IntronicSNV - 6/26 2
13-32900429-C-T c.516+10C>T - IntronicSNV - 6/26 2
13-32900433-C-T c.516+14C>T - IntronicSNV - 6/26 8
13-32900436-G-T c.516+17G>T - IntronicSNV - 6/26 2
13-32900436-G-C c.516+17G>C - IntronicSNV - 6/26 1
13-32900437-T-C c.516+18T>C - IntronicSNV - 6/26 6
13-32900440-A-T c.516+21A>T - IntronicSNV - 6/26 5
13-32900449-A-G c.516+30A>G - IntronicSNV - 6/26 1
13-32900457-A-AT c.516+40dup - IntronicInsertion - 6/26 1
13-32900473-T-C c.516+54T>C - IntronicSNV - 6/26 3
13-32900475-G-A c.516+56G>A - IntronicSNV - 6/26 1
13-32900477-G-A c.516+58G>A - IntronicSNV - 6/26 1
13-32900521-T-C c.516+102T>C - IntronicSNV - 6/26 1
13-32900547-G-A c.517-89G>A - IntronicSNV - 6/26 2
13-32900617-C-T c.517-19C>T - IntronicSNV - 6/26 5
13-32900624-C-A c.517-12C>A - IntronicSNV - 6/26 1
13-32900625-T-C c.517-11T>C - IntronicSNV - 6/26 2
13-32900632-C-G c.517-4C>G - IntronicSNV - 6/26 4
13-32900634-A-C c.517-2A>C - IntronicSNV - 6/26 5
13-32900634-A-G c.517-2A>G - IntronicSNV - 6/26 5
13-32900635-G-A c.517-1G>A - IntronicSNV - 6/26 3
13-32900635-G-T c.517-1G>T - IntronicSNV - 6/26 3
13-32900636-G-T c.517G>T p.G173C Missense 7/27 - 20
13-32900636-G-C c.517G>C p.G173R Missense 7/27 - 15
13-32900636-G-A c.517G>A p.G173S Missense 7/27 - 4
13-32900637-G-T c.518G>T p.G173V Missense 7/27 - 18
13-32900634-AG-A c.518del p.G173Vfs*12 Frameshift 7/27 - 12
13-32900637-GT-AG c.518_519delinsAG p.G173E Missense 7/27 - 1
13-32900637-G-A c.518G>A p.G173D Missense 7/27 - 7
13-32900637-G-C c.518G>C p.G173A Missense 7/27 - 3
13-32900638-T-G c.519T>G p.G173= Synonymous 7/27 - 1
13-32900638-T-A c.519T>A p.G173= Synonymous 7/27 - 1
13-32900638-T-C c.519T>C p.G173= Synonymous 7/27 - 1
13-32900639-C-T c.520C>T p.R174C Missense 7/27 - 31
13-32900639-CGT-TGA c.520_522delinsTGA p.R174* Nonsense 7/27 - 2
13-32900639-C-G c.520C>G p.R174G Missense 7/27 - 6
13-32900639-C-A c.520C>A p.R174S Missense 7/27 - 3
13-32900639-CGT-TGG c.520_522delinsTGG p.R174W Missense 7/27 - 1
13-32900639-CG-GC c.520_521delinsGC p.R174A Missense 7/27 - 1
13-32900640-G-A c.521G>A p.R174H Missense 7/27 - 26
13-32900640-G-C c.521G>C p.R174P Missense 7/27 - 3
13-32900640-G-T c.521G>T p.R174L Missense 7/27 - 3
13-32900641-T-A c.522T>A p.R174= Synonymous 7/27 - 1
13-32900641-T-C c.522T>C p.R174= Synonymous 7/27 - 2
13-32900641-T-G c.522T>G p.R174= Synonymous 7/27 - 4
13-32900641-GT-G c.522del p.Q175Rfs*10 Frameshift 7/27 - 3
13-32900642-C-T c.523C>T p.Q175* Nonsense 7/27 - 8
13-32900642-C-A c.523C>A p.Q175K Missense 7/27 - 3
13-32900642-C-G c.523C>G p.Q175E Missense 7/27 - 4
13-32900643-A-C c.524A>C p.Q175P Missense 7/27 - 3
13-32900643-A-G c.524A>G p.Q175R Missense 7/27 - 4
13-32900643-A-T c.524A>T p.Q175L Missense 7/27 - 3
13-32900644-G-A c.525G>A p.Q175= Synonymous 7/27 - 1
13-32900644-G-C c.525G>C p.Q175H Missense 7/27 - 3
13-32900644-G-T c.525G>T p.Q175H Missense 7/27 - 3
13-32900644-AG-A c.525del p.T176Hfs*9 Frameshift 7/27 - 1
13-32900645-A-G c.526A>G p.T176A Missense 7/27 - 8
13-32900645-GACA-G c.526_528del p.T176del InFrameDeletion 7/27 - 1
13-32900645-A-C c.526A>C p.T176P Missense 7/27 - 4
13-32900645-A-T c.526A>T p.T176S Missense 7/27 - 4
13-32900646-C-A c.527C>A p.T176K Missense 7/27 - 4
13-32900646-C-G c.527C>G p.T176R Missense 7/27 - 4
13-32900646-C-T c.527C>T p.T176I Missense 7/27 - 4
13-32900646-ACACC-A c.527_530del p.T176Kfs*8 Frameshift 7/27 - 2
13-32900648-C-A c.529C>A p.P177T Missense 7/27 - 3
13-32900648-C-G c.529C>G p.P177A Missense 7/27 - 3
13-32900648-C-T c.529C>T p.P177S Missense 7/27 - 4
13-32900649-C-A c.530C>A p.P177Q Missense 7/27 - 3
13-32900649-C-G c.530C>G p.P177R Missense 7/27 - 4
13-32900649-C-T c.530C>T p.P177L Missense 7/27 - 4
13-32900651-A-C c.532A>C p.K178Q Missense 7/27 - 7
13-32900651-A-G c.532A>G p.K178E Missense 7/27 - 4
13-32900651-A-T c.532A>T p.K178* Nonsense 7/27 - 1
13-32900652-A-G c.533A>G p.K178R Missense 7/27 - 6
13-32900652-A-C c.533A>C p.K178T Missense 7/27 - 3
13-32900652-A-T c.533A>T p.K178I Missense 7/27 - 3
13-32900649-C-CA c.534dup p.H179Tfs*4 Frameshift 7/27 - 1
13-32900653-A-G c.534A>G p.K178= Synonymous 7/27 - 5
13-32900649-CA-C c.534del p.K178Nfs*7 Frameshift 7/27 - 1
13-32900653-A-T c.534A>T p.K178N Missense 7/27 - 3
13-32900653-A-C c.534A>C p.K178N Missense 7/27 - 3
13-32900654-C-T c.535C>T p.H179Y Missense 7/27 - 8
13-32900654-C-G c.535C>G p.H179D Missense 7/27 - 4
13-32900654-C-A c.535C>A p.H179N Missense 7/27 - 4
13-32900654-CA-AC c.535_536delinsAC p.H179T Missense 7/27 - 1
13-32900655-A-G c.536A>G p.H179R Missense 7/27 - 19
13-32900655-A-T c.536A>T p.H179L Missense 7/27 - 7
13-32900655-A-C c.536A>C p.H179P Missense 7/27 - 4
13-32900655-A-AT c.537dup p.I180Yfs*3 Frameshift 7/27 - 5
13-32900656-T-A c.537T>A p.H179Q Missense 7/27 - 4
13-32900656-T-G c.537T>G p.H179Q Missense 7/27 - 5
13-32900657-A-G c.538A>G p.I180V Missense 7/27 - 7
13-32900654-CAT-C c.538_539del p.I180Ffs*2 Frameshift 7/27 - 12
13-32900657-A-C c.538A>C p.I180L Missense 7/27 - 4
13-32900657-A-T c.538A>T p.I180F Missense 7/27 - 8
13-32900658-T-G c.539T>G p.I180S Missense 7/27 - 5
13-32900658-T-TA c.539_540insA p.S181Ffs*2 Frameshift 7/27 - 1
13-32900658-T-C c.539T>C p.I180T Missense 7/27 - 18
13-32900658-T-A c.539T>A p.I180N Missense 7/27 - 3
13-32900659-T-G c.540T>G p.I180M Missense 7/27 - 3
13-32900660-T-A c.541T>A p.S181T Missense 7/27 - 5
13-32900657-AT-A c.541del p.S181Lfs*4 Frameshift 7/27 - 6
13-32900660-T-C c.541T>C p.S181P Missense 7/27 - 3
13-32900660-T-G c.541T>G p.S181A Missense 7/27 - 3
13-32900660-TCT-GAG c.541_543delinsGAG p.S181E Missense 7/27 - 1
13-32900661-C-T c.542C>T p.S181F Missense 7/27 - 9
13-32900661-TC-T c.542del p.S181Lfs*4 Frameshift 7/27 - 1
13-32900661-C-A c.542C>A p.S181Y Missense 7/27 - 3
13-32900661-C-G c.542C>G p.S181C Missense 7/27 - 3
13-32900663-G-A c.544G>A p.E182K Missense 7/27 - 6
13-32900663-G-C c.544G>C p.E182Q Missense 7/27 - 9
13-32900663-G-T c.544G>T p.E182* Nonsense 7/27 - 5
13-32900664-A-G c.545A>G p.E182G Missense 7/27 - 8
13-32900664-A-C c.545A>C p.E182A Missense 7/27 - 3
13-32900664-A-T c.545A>T p.E182V Missense 7/27 - 3
13-32900665-A-G c.546A>G p.E182= Synonymous 7/27 - 1
13-32900665-A-C c.546A>C p.E182D Missense 7/27 - 3
13-32900665-A-T c.546A>T p.E182D Missense 7/27 - 3
13-32900666-A-G c.547A>G p.S183G Missense 7/27 - 5
13-32900666-A-T c.547A>T p.S183C Missense 7/27 - 4
13-32900666-AGT-TGA c.547_549delinsTGA p.S183* Nonsense 7/27 - 1
13-32900666-A-C c.547A>C p.S183R Missense 7/27 - 3
13-32900663-GA-G c.547del p.S183Vfs*2 Frameshift 7/27 - 2
13-32900667-G-A c.548G>A p.S183N Missense 7/27 - 11
13-32900667-G-C c.548G>C p.S183T Missense 7/27 - 5
13-32900667-G-T c.548G>T p.S183I Missense 7/27 - 4
13-32900668-T-C c.549T>C p.S183= Synonymous 7/27 - 3
13-32900668-T-A c.549T>A p.S183R Missense 7/27 - 4
13-32900668-T-G c.549T>G p.S183R Missense 7/27 - 3
13-32900669-CTA-TGG c.550_552delinsTGG p.L184W Missense 7/27 - 2
13-32900669-C-G c.550C>G p.L184V Missense 7/27 - 9
13-32900669-C-A c.550C>A p.L184I Missense 7/27 - 3
13-32900670-T-C c.551T>C p.L184P Missense 7/27 - 22
13-32900670-T-A c.551T>A p.L184Q Missense 7/27 - 3
13-32900670-T-G c.551T>G p.L184R Missense 7/27 - 3
13-32900671-A-T c.552A>T p.L184= Synonymous 7/27 - 1
13-32900671-A-G c.552A>G p.L184= Synonymous 7/27 - 2
13-32900671-A-C c.552A>C p.L184= Synonymous 7/27 - 1
13-32900669-C-T c.550C>T p.L184= Synonymous 7/27 - 2
13-32900672-G-T c.553G>T p.G185* Nonsense 7/27 - 2
13-32900672-G-A c.553G>A p.G185R Missense 7/27 - 5
13-32900672-G-C c.553G>C p.G185R Missense 7/27 - 3
13-32900672-GGA-AGC c.553_555delinsAGC p.G185S Missense 7/27 - 1
13-32900673-G-T c.554G>T p.G185V Missense 7/27 - 8
13-32900673-G-A c.554G>A p.G185E Missense 7/27 - 6
13-32900673-G-C c.554G>C p.G185A Missense 7/27 - 4
13-32900671-AG-A c.554del p.G185Efs*14 Frameshift 7/27 - 1
13-32900674-A-T c.555A>T p.G185= Synonymous 7/27 - 1
13-32900674-A-G c.555A>G p.G185= Synonymous 7/27 - 1
13-32900674-A-C c.555A>C p.G185= Synonymous 7/27 - 1
13-32900675-G-T c.556G>T p.A186S Missense 7/27 - 7
13-32900675-G-A c.556G>A p.A186T Missense 7/27 - 10
13-32900675-G-C c.556G>C p.A186P Missense 7/27 - 8
13-32900676-C-T c.557C>T p.A186V Missense 7/27 - 7
13-32900676-C-A c.557C>A p.A186D Missense 7/27 - 4
13-32900676-C-G c.557C>G p.A186G Missense 7/27 - 3
13-32900678-G-T c.559G>T p.E187* Nonsense 7/27 - 6
13-32900678-G-A c.559G>A p.E187K Missense 7/27 - 19
13-32900678-G-C c.559G>C p.E187Q Missense 7/27 - 4
13-32900679-A-G c.560A>G p.E187G Missense 7/27 - 3
13-32900679-A-C c.560A>C p.E187A Missense 7/27 - 3
13-32900679-A-T c.560A>T p.E187V Missense 7/27 - 3
13-32900680-G-A c.561G>A p.E187= Synonymous 7/27 - 4
13-32900680-G-T c.561G>T p.E187D Missense 7/27 - 6
13-32900680-G-C c.561G>C p.E187D Missense 7/27 - 8
13-32900681-G-A c.562G>A p.V188M Missense 7/27 - 9
13-32900681-G-GA c.562_563insA p.V188Dfs*4 Frameshift 7/27 - 1
13-32900681-G-C c.562G>C p.V188L Missense 7/27 - 4
13-32900681-G-T c.562G>T p.V188L Missense 7/27 - 4
13-32900682-T-A c.563T>A p.V188E Missense 7/27 - 3
13-32900682-T-C c.563T>C p.V188A Missense 7/27 - 3
13-32900682-T-G c.563T>G p.V188G Missense 7/27 - 4
13-32900683-G-A c.564G>A p.V188= Synonymous 7/27 - 1
13-32900683-G-T c.564G>T p.V188= Synonymous 7/27 - 1
13-32900684-G-A c.565G>A p.D189N Missense 7/27 - 10
13-32900684-G-C c.565G>C p.D189H Missense 7/27 - 11
13-32900684-G-T c.565G>T p.D189Y Missense 7/27 - 7
13-32900682-T-TG c.565dup p.D189Gfs*3 Frameshift 7/27 - 2
13-32900685-A-G c.566A>G p.D189G Missense 7/27 - 9
13-32900685-A-T c.566A>T p.D189V Missense 7/27 - 7
13-32900685-A-C c.566A>C p.D189A Missense 7/27 - 4
13-32900685-A-AG c.566_567insG p.D189Efs*3 Frameshift 7/27 - 3
13-32900686-T-G c.567T>G p.D189E Missense 7/27 - 6
13-32900686-T-A c.567T>A p.D189E Missense 7/27 - 6
13-32900687-C-T c.568C>T p.P190S Missense 7/27 - 10
13-32900687-C-G c.568C>G p.P190A Missense 7/27 - 8
13-32900687-C-A c.568C>A p.P190T Missense 7/27 - 4
13-32900684-GATCCTGAT-G c.568_575del p.P190Vfs*13 Frameshift 7/27 - 3
13-32900687-C-CAACG c.568_569insAACG p.P190Qfs*3 Frameshift 7/27 - 3
13-32900687-CC-GT c.568_569delinsGT p.P190V Missense 7/27 - 1
13-32900688-C-T c.569C>T p.P190L Missense 7/27 - 12
13-32900688-C-A c.569C>A p.P190H Missense 7/27 - 5
13-32900688-C-G c.569C>G p.P190R Missense 7/27 - 3
13-32900688-C-CAACG c.569_570insAACG p.D191Tfs*2 Frameshift 7/27 - 4
13-32900688-CT-AA c.569_570delinsAA p.P190Q Missense 7/27 - 1
13-32900690-G-A c.571G>A p.D191N Missense 7/27 - 8
13-32900690-G-C c.571G>C p.D191H Missense 7/27 - 4
13-32900690-G-T c.571G>T p.D191Y Missense 7/27 - 5
13-32900690-GA-AC c.571_572delinsAC p.D191T Missense 7/27 - 1
13-32900691-A-T c.572A>T p.D191V Missense 7/27 - 17
13-32900691-A-G c.572A>G p.D191G Missense 7/27 - 12
13-32900691-A-CT c.572delinsCT p.D191Afs*15 Frameshift 7/27 - 4
13-32900691-A-C c.572A>C p.D191A Missense 7/27 - 3
13-32900692-T-C c.573T>C p.D191= Synonymous 7/27 - 5
13-32900692-T-A c.573T>A p.D191E Missense 7/27 - 6
13-32900692-T-G c.573T>G p.D191E Missense 7/27 - 3
13-32900690-GAT-G c.574_575del p.M192Vfs*13 Frameshift 7/27 - 16
13-32900692-T-TA c.574dup p.M192Nfs*14 Frameshift 7/27 - 6
13-32900693-A-G c.574A>G p.M192V Missense 7/27 - 6
13-32900693-A-C c.574A>C p.M192L Missense 7/27 - 3
13-32900693-A-T c.574A>T p.M192L Missense 7/27 - 3
13-32900694-T-C c.575T>C p.M192T Missense 7/27 - 26
13-32900694-T-A c.575T>A p.M192K Missense 7/27 - 3
13-32900694-T-G c.575T>G p.M192R Missense 7/27 - 3
13-32900695-TGTCTTGGTCAAGTTCTTTAGCTACACCACCCACC-T c.576_609del p.M192Ifs*8 Frameshift 7/27 - 1
13-32900695-G-A c.576G>A p.M192I Missense 7/27 - 6
13-32900695-G-C c.576G>C p.M192I Missense 7/27 - 3
13-32900695-G-T c.576G>T p.M192I Missense 7/27 - 4
13-32900696-T-G c.577T>G p.S193A Missense 7/27 - 8
13-32900696-TCT-GAG c.577_579delinsGAG p.S193E Missense 7/27 - 1
13-32900696-T-A c.577T>A p.S193T Missense 7/27 - 4
13-32900696-T-C c.577T>C p.S193P Missense 7/27 - 3
13-32900697-C-T c.578C>T p.S193F Missense 7/27 - 10
13-32900697-C-A c.578C>A p.S193Y Missense 7/27 - 3
13-32900697-C-G c.578C>G p.S193C Missense 7/27 - 4
13-32900698-T-G c.579T>G p.S193= Synonymous 7/27 - 1
13-32900698-T-C c.579T>C p.S193= Synonymous 7/27 - 1
13-32900698-T-A c.579T>A p.S193= Synonymous 7/27 - 1
13-32900699-T-G c.580T>G p.W194G Missense 7/27 - 5
13-32900699-T-A c.580T>A p.W194R Missense 7/27 - 5
13-32900699-T-C c.580T>C p.W194R Missense 7/27 - 5
13-32900700-G-A c.581G>A p.W194* Nonsense 7/27 - 19
13-32900701-G-A c.582G>A p.W194* Nonsense 7/27 - 27
13-32900700-G-C c.581G>C p.W194S Missense 7/27 - 9
13-32900700-G-T c.581G>T p.W194L Missense 7/27 - 4
13-32900701-G-T c.582G>T p.W194C Missense 7/27 - 4
13-32900701-G-C c.582G>C p.W194C Missense 7/27 - 3
13-32900702-T-C c.583T>C p.S195P Missense 7/27 - 6
13-32900702-GT-G c.583del p.S195Qfs*4 Frameshift 7/27 - 4
13-32900702-TC-AT c.583_584delinsAT p.S195I Missense 7/27 - 1
13-32900702-T-A c.583T>A p.S195T Missense 7/27 - 3
13-32900702-T-G c.583T>G p.S195A Missense 7/27 - 3
13-32900702-TC-CA c.583_584delinsCA p.S195Q Missense 7/27 - 1
13-32900703-C-G c.584C>G p.S195* Nonsense 7/27 - 8
13-32900703-C-A c.584C>A p.S195* Nonsense 7/27 - 1
13-32900703-C-T c.584C>T p.S195L Missense 7/27 - 4
13-32900705-A-C c.586A>C p.S196R Missense 7/27 - 3
13-32900705-A-G c.586A>G p.S196G Missense 7/27 - 3
13-32900705-A-T c.586A>T p.S196C Missense 7/27 - 3
13-32900705-AG-TT c.586_587delinsTT p.S196F Missense 7/27 - 1
13-32900706-G-T c.587G>T p.S196I Missense 7/27 - 21
13-32900706-G-A c.587G>A p.S196N Missense 7/27 - 17
13-32900706-G-C c.587G>C p.S196T Missense 7/27 - 8
13-32900707-T-C c.588T>C p.S196= Synonymous 7/27 - 3
13-32900707-T-A c.588T>A p.S196R Missense 7/27 - 3
13-32900707-T-G c.588T>G p.S196R Missense 7/27 - 3
13-32900708-T-C c.589T>C p.S197P Missense 7/27 - 6
13-32900708-T-G c.589T>G p.S197A Missense 7/27 - 6
13-32900708-T-A c.589T>A p.S197T Missense 7/27 - 3
13-32900709-C-T c.590C>T p.S197F Missense 7/27 - 7
13-32900709-C-G c.590C>G p.S197C Missense 7/27 - 9
13-32900709-C-A c.590C>A p.S197Y Missense 7/27 - 4
13-32900711-T-C c.592T>C p.L198= Synonymous 7/27 - 2
13-32900713-A-G c.594A>G p.L198= Synonymous 7/27 - 2
13-32900711-T-A c.592T>A p.L198I Missense 7/27 - 3
13-32900711-T-G c.592T>G p.L198V Missense 7/27 - 3
13-32900711-TT-GC c.592_593delinsGC p.L198A Missense 7/27 - 1
13-32900711-TT-AG c.592_593delinsAG p.L198R Missense 7/27 - 1
13-32900712-T-C c.593T>C p.L198S Missense 7/27 - 5
13-32900709-CT-C c.593del p.L198* Frameshift 7/27 - 1
13-32900712-T-A c.593T>A p.L198* Nonsense 7/27 - 1
13-32900712-T-G c.593T>G p.L198* Nonsense 7/27 - 1
13-32900712-TAGC-AGG c.593_596delinsAGG p.L198* Frameshift 7/27 - 2
13-32900713-A-C c.594A>C p.L198F Missense 7/27 - 3
13-32900713-A-T c.594A>T p.L198F Missense 7/27 - 3
13-32900712-T-TAGCTA c.594_598dup p.T200Kfs*13 Frameshift 7/27 - 1
13-32900714-G-A c.595G>A p.A199T Missense 7/27 - 10
13-32900714-G-C c.595G>C p.A199P Missense 7/27 - 9
13-32900714-G-T c.595G>T p.A199S Missense 7/27 - 4
13-32900713-A-AGCTAC c.595_599dup p.P201Lfs*12 Frameshift 7/27 - 1
13-32900711-TTAGC-T c.595_598del p.A199Hfs*11 Frameshift 7/27 - 2
13-32900715-GCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTT-G c.596_631+23del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 7/27 7/26 1
13-32900715-C-T c.596C>T p.A199V Missense 7/27 - 8
13-32900715-C-A c.596C>A p.A199D Missense 7/27 - 4
13-32900715-C-G c.596C>G p.A199G Missense 7/27 - 3
13-32900717-A-G c.598A>G p.T200A Missense 7/27 - 13
13-32900717-A-C c.598A>C p.T200P Missense 7/27 - 3
13-32900717-A-T c.598A>T p.T200S Missense 7/27 - 3
13-32900718-C-T c.599C>T p.T200I Missense 7/27 - 21
13-32900718-C-A c.599C>A p.T200K Missense 7/27 - 9
13-32900718-C-G c.599C>G p.T200R Missense 7/27 - 3
13-32900718-C-CA c.600dup p.P201Tfs*5 Frameshift 7/27 - 1
13-32900720-C-A c.601C>A p.P201T Missense 7/27 - 4
13-32900720-C-G c.601C>G p.P201A Missense 7/27 - 7
13-32900720-C-T c.601C>T p.P201S Missense 7/27 - 9
13-32900721-C-G c.602C>G p.P201R Missense 7/27 - 8
13-32900721-C-T c.602C>T p.P201L Missense 7/27 - 6
13-32900721-C-A c.602C>A p.P201Q Missense 7/27 - 3
13-32900723-C-G c.604C>G p.P202A Missense 7/27 - 4
13-32900721-CACCCACCCTT-C c.604_613del p.P202Vfs*6 Frameshift 7/27 - 2
13-32900723-C-T c.604C>T p.P202S Missense 7/27 - 6
13-32900723-C-A c.604C>A p.P202T Missense 7/27 - 3
13-32900724-C-T c.605C>T p.P202L Missense 7/27 - 12
13-32900724-C-A c.605C>A p.P202H Missense 7/27 - 3
13-32900724-C-G c.605C>G p.P202R Missense 7/27 - 3
13-32900726-A-G c.607A>G p.T203A Missense 7/27 - 8
13-32900726-AC-TT c.607_608delinsTT p.T203F Missense 7/27 - 1
13-32900726-AC-TA c.607_608delinsTA p.T203Y Missense 7/27 - 1
13-32900726-A-C c.607A>C p.T203P Missense 7/27 - 3
13-32900726-A-T c.607A>T p.T203S Missense 7/27 - 3
13-32900723-CCCA-C c.607_609del p.T203del InFrameDeletion 7/27 - 1
13-32900719-ACCAC-A c.607_610del p.T203Lfs*7 Frameshift 7/27 - 1
13-32900727-C-T c.608C>T p.T203I Missense 7/27 - 5
13-32900727-C-A c.608C>A p.T203N Missense 7/27 - 10
13-32900727-C-G c.608C>G p.T203S Missense 7/27 - 3
13-32900728-C-T c.609C>T p.T203= Synonymous 7/27 - 1
13-32900726-AC-A c.610del p.S205Vfs*6 Frameshift 7/27 - 9
13-32900726-A-AC c.610dup p.L204Pfs*2 Frameshift 7/27 - 4
13-32900729-C-A c.610C>A p.L204I Missense 7/27 - 4
13-32900729-C-G c.610C>G p.L204V Missense 7/27 - 3
13-32900729-C-T c.610C>T p.L204F Missense 7/27 - 3
13-32900728-C-CCTTA c.610_613dup p.S205Tfs*2 Frameshift 7/27 - 1
13-32900730-T-G c.611T>G p.L204R Missense 7/27 - 4
13-32900730-T-A c.611T>A p.L204H Missense 7/27 - 3
13-32900730-T-C c.611T>C p.L204P Missense 7/27 - 3
13-32900731-T-G c.612T>G p.L204= Synonymous 7/27 - 1
13-32900731-T-A c.612T>A p.L204= Synonymous 7/27 - 1
13-32900731-T-C c.612T>C p.L204= Synonymous 7/27 - 1
13-32900731-T-TTGAG c.612_613insTGAG p.S205* Nonsense 7/27 - 3
13-32900732-A-G c.613A>G p.S205G Missense 7/27 - 4
13-32900732-TAG-T c.613_614del p.S205Ffs*9 Frameshift 7/27 - 2
13-32900732-A-C c.613A>C p.S205R Missense 7/27 - 6
13-32900732-A-T c.613A>T p.S205C Missense 7/27 - 3
13-32900732-A-ATGAG c.613_614insTGAG p.S205Mfs*11 Frameshift 7/27 - 3
13-32900732-AG-CT c.613_614inv p.S205L Missense 7/27 - 1
13-32900732-AG-GC c.613_614delinsGC p.S205A Missense 7/27 - 1
13-32900733-G-C c.614G>C p.S205T Missense 7/27 - 5
13-32900733-AG-A c.614del p.S205Ifs*6 Frameshift 7/27 - 5
13-32900733-G-T c.614G>T p.S205I Missense 7/27 - 4
13-32900733-G-A c.614G>A p.S205N Missense 7/27 - 3
13-32900734-T-C c.615T>C p.S205= Synonymous 7/27 - 1
13-32900734-T-G c.615T>G p.S205R Missense 7/27 - 10
13-32900734-T-A c.615T>A p.S205R Missense 7/27 - 6
13-32900735-T-A c.616T>A p.S206T Missense 7/27 - 3
13-32900735-T-C c.616T>C p.S206P Missense 7/27 - 3
13-32900735-T-G c.616T>G p.S206A Missense 7/27 - 3
13-32900735-TC-AA c.616_617delinsAA p.S206N Missense 7/27 - 1
13-32900735-TC-CT c.616_617delinsCT p.S206L Missense 7/27 - 1
13-32900736-C-G c.617C>G p.S206C Missense 7/27 - 19
13-32900736-C-A c.617C>A p.S206Y Missense 7/27 - 9
13-32900736-C-T c.617C>T p.S206F Missense 7/27 - 4
13-32900737-T-G c.618T>G p.S206= Synonymous 7/27 - 1
13-32900737-T-C c.618T>C p.S206= Synonymous 7/27 - 1
13-32900737-T-A c.618T>A p.S206= Synonymous 7/27 - 1
13-32900738-A-G c.619A>G p.T207A Missense 7/27 - 19
13-32900735-TCTA-T c.619_621del p.T207del InFrameDeletion 7/27 - 1
13-32900738-A-C c.619A>C p.T207P Missense 7/27 - 3
13-32900738-A-T c.619A>T p.T207S Missense 7/27 - 4
13-32900738-AC-GA c.619_620delinsGA p.T207D Missense 7/27 - 1
13-32900739-C-T c.620C>T p.T207I Missense 7/27 - 18
13-32900739-C-A c.620C>A p.T207N Missense 7/27 - 5
13-32900739-C-G c.620C>G p.T207S Missense 7/27 - 4
13-32900740-T-A c.621T>A p.T207= Synonymous 7/27 - 1
13-32900740-T-G c.621T>G p.T207= Synonymous 7/27 - 1
13-32900740-T-C c.621T>C p.T207= Synonymous 7/27 - 1
13-32900741-G-A c.622G>A p.V208M Missense 7/27 - 5
13-32900741-G-C c.622G>C p.V208L Missense 7/27 - 4
13-32900741-G-T c.622G>T p.V208L Missense 7/27 - 3
13-32900742-T-G c.623T>G p.V208G Missense 7/27 - 30
13-32900742-T-C c.623T>C p.V208A Missense 7/27 - 4
13-32900742-T-A c.623T>A p.V208E Missense 7/27 - 4
13-32900743-G-A c.624G>A p.V208= Synonymous 7/27 - 1
13-32900743-G-C c.624G>C p.V208= Synonymous 7/27 - 1
13-32900743-G-T c.624G>T p.V208= Synonymous 7/27 - 1
13-32900744-C-T c.625C>T p.L209F Missense 7/27 - 8
13-32900744-C-A c.625C>A p.L209I Missense 7/27 - 3
13-32900744-C-G c.625C>G p.L209V Missense 7/27 - 3
13-32900745-T-C c.626T>C p.L209P Missense 7/27 - 4
13-32900745-T-A c.626T>A p.L209H Missense 7/27 - 5
13-32900745-T-G c.626T>G p.L209R Missense 7/27 - 3
13-32900746-C-T c.627C>T p.L209= Synonymous 7/27 - 8
13-32900746-C-G c.627C>G p.L209= Synonymous 7/27 - 1
13-32900746-C-A c.627C>A p.L209= Synonymous 7/27 - 6
13-32900747-A-G c.628A>G p.I210V Missense 7/27 - 9
13-32900747-A-T c.628A>T p.I210L Missense 7/27 - 6
13-32900747-A-C c.628A>C p.I210L Missense 7/27 - 3
13-32900747-CATA-C c.628_630del p.I210del InFrameDeletion 7/27 - 1
13-32900748-T-C c.629T>C p.I210T Missense 7/27 - 8
13-32900748-T-A c.629T>A p.I210K Missense 7/27 - 3
13-32900748-T-G c.629T>G p.I210R Missense 7/27 - 3
13-32900749-A-G c.630A>G p.I210M Missense 7/27 - 4
13-32900750-G-A c.631G>A p.V211I Missense 7/27 - 45
13-32900750-G-C c.631G>C p.V211L Missense 7/27 - 25
13-32900750-G-T c.631G>T p.V211F Missense 7/27 - 3
13-32900751-G-A c.631+1G>A - IntronicSNV - 7/26 17
13-32900746-CATAGGTAATA-C c.631+1_631+10del - SpliceDonorDeletion - 7/26 1
13-32900752-T-G c.631+2T>G - IntronicSNV - 7/26 29
13-32900752-T-A c.631+2T>A - IntronicSNV - 7/26 4
13-32900752-T-C c.631+2T>C - IntronicSNV - 7/26 1
13-32900753-A-G c.631+3A>G - IntronicSNV - 7/26 10
13-32900754-A-G c.631+4A>G - IntronicSNV - 7/26 8
13-32900756-A-C c.631+6A>C - IntronicSNV - 7/26 1
13-32900757-A-G c.631+7A>G - IntronicSNV - 7/26 2
13-32900758-T-C c.631+8T>C - IntronicSNV - 7/26 2
13-32900765-T-C c.631+15T>C - IntronicSNV - 7/26 1
13-32900766-G-A c.631+16G>A - IntronicSNV - 7/26 1
13-32900768-G-A c.631+18G>A - IntronicSNV - 7/26 1
13-32900775-C-T c.631+25C>T - IntronicSNV - 7/26 5
13-32900790-G-A c.631+40G>A - IntronicSNV - 7/26 1
13-32900793-G-T c.631+43G>T - IntronicSNV - 7/26 3
13-32900805-C-T c.631+55C>T - IntronicSNV - 7/26 1
13-32900807-T-A c.631+57T>A - IntronicSNV - 7/26 1
13-32900809-T-C c.631+59T>C - IntronicSNV - 7/26 1
13-32900812-A-G c.631+62A>G - IntronicSNV - 7/26 1
13-32900815-A-T c.631+65A>T - IntronicSNV - 7/26 1
13-32900825-A-T c.631+75A>T - IntronicSNV - 7/26 1
13-32900829-G-C c.631+79G>C - IntronicSNV - 7/26 1
13-32900823-TAAAAGGAAATATG-T c.631+79_631+91del - IntronicDeletion - 7/26 1
13-32900832-A-G c.631+82A>G - IntronicSNV - 7/26 1
13-32900833-T-C c.631+83T>C - IntronicSNV - 7/26 1
13-32900834-A-G c.631+84A>G - IntronicSNV - 7/26 1
13-32900840-A-G c.631+90A>G - IntronicSNV - 7/26 1
13-32900855-A-C c.631+105A>C - IntronicSNV - 7/26 1
13-32900933-T-A c.631+183T>A - IntronicSNV - 7/26 12
13-32901291-T-C c.631+541T>C - IntronicSNV - 7/26 1
13-32901401-G-A c.631+651G>A - IntronicSNV - 7/26 1
13-32901413-T-C c.631+663T>C - IntronicSNV - 7/26 1
13-32902394-T-C c.632-1186T>C - IntronicSNV - 7/26 1
13-32903511-T-C c.632-69T>C - IntronicSNV - 7/26 1
13-32903536-A-C c.632-44A>C - IntronicSNV - 7/26 1
13-32903545-A-G c.632-35A>G - IntronicSNV - 7/26 1
13-32903553-C-G c.632-27C>G - IntronicSNV - 7/26 1
13-32903567-T-G c.632-13T>G - IntronicSNV - 7/26 1
13-32903571-A-G c.632-9A>G - IntronicSNV - 7/26 1
13-32903571-A-T c.632-9A>T - IntronicSNV - 7/26 1
13-32903577-C-A c.632-3C>A - IntronicSNV - 7/26 3
13-32903577-C-G c.632-3C>G - IntronicSNV - 7/26 3
13-32903578-A-C c.632-2A>C - IntronicSNV - 7/26 5
13-32903578-A-G c.632-2A>G - IntronicSNV - 7/26 5
13-32903579-G-A c.632-1G>A - IntronicSNV - 7/26 6
13-32903579-G-C c.632-1G>C - IntronicSNV - 7/26 6
13-32903579-G-T c.632-1G>T - IntronicSNV - 7/26 6
13-32903578-A-AG c.632-1dup - SpliceAcceptorInsertion - 7/26 1
13-32903580-T-C c.632T>C p.V211A Missense 8/27 - 5
13-32903580-T-A c.632T>A p.V211D Missense 8/27 - 3
13-32903580-T-G c.632T>G p.V211G Missense 8/27 - 3
13-32903581-TC-T c.633del p.R212Efs*18 Frameshift 8/27 - 1
13-32903581-C-T c.633C>T p.V211= Synonymous 8/27 - 3
13-32903580-T-TC c.633dup p.R212Qfs*3 SpliceAcceptorInsertion 8/27 - 1
13-32903582-AG-CA c.634_635delinsCA p.R212Q Missense 8/27 - 1
13-32903582-A-T c.634A>T p.R212* Nonsense 8/27 - 4
13-32903582-A-G c.634A>G p.R212G Missense 8/27 - 6
13-32903582-AGA-TGG c.634_636delinsTGG p.R212W Missense 8/27 - 1
13-32903582-AGA-CAT c.634_636delinsCAT p.R212H Missense 8/27 - 2
13-32903582-AGA-TGT c.634_636delinsTGT p.R212C Missense 8/27 - 1
13-32903581-CAG-C c.635_636del p.R212Kfs*2 Frameshift 8/27 - 9
13-32903583-G-T c.635G>T p.R212I Missense 8/27 - 8
13-32903583-G-C c.635G>C p.R212T Missense 8/27 - 5
13-32903583-G-A c.635G>A p.R212K Missense 8/27 - 3
13-32903584-A-C c.636A>C p.R212S Missense 8/27 - 4
13-32903584-A-T c.636A>T p.R212S Missense 8/27 - 4
13-32903584-A-G c.636A>G p.R212= Synonymous 8/27 - 1
13-32903585-A-C c.637A>C p.N213H Missense 8/27 - 3
13-32903585-A-G c.637A>G p.N213D Missense 8/27 - 3
13-32903585-A-T c.637A>T p.N213Y Missense 8/27 - 3
13-32903587-TG-CT c.639_640delinsCT p.E214* MultiAAMissense 8/27 - 1
13-32903583-GA-G c.638del p.N213Mfs*17 Frameshift 8/27 - 1
13-32903586-A-C c.638A>C p.N213T Missense 8/27 - 3
13-32903586-A-G c.638A>G p.N213S Missense 8/27 - 3
13-32903586-A-T c.638A>T p.N213I Missense 8/27 - 3
13-32903586-AT-TG c.638_639delinsTG p.N213M Missense 8/27 - 1
13-32903585-A-AATGAAGAAG c.638_646dup p.E215_A216insDEE InFrameInsertion 8/27 - 1
13-32903587-T-A c.639T>A p.N213K Missense 8/27 - 7
13-32903587-T-G c.639T>G p.N213K Missense 8/27 - 4
13-32903588-G-A c.640G>A p.E214K Missense 8/27 - 4
13-32903588-G-C c.640G>C p.E214Q Missense 8/27 - 3
13-32903588-G-T c.640G>T p.E214* Nonsense 8/27 - 1
13-32903589-A-T c.641A>T p.E214V Missense 8/27 - 4
13-32903589-A-G c.641A>G p.E214G Missense 8/27 - 5
13-32903589-A-C c.641A>C p.E214A Missense 8/27 - 3
13-32903590-A-C c.642A>C p.E214D Missense 8/27 - 4
13-32903590-A-T c.642A>T p.E214D Missense 8/27 - 4
13-32903591-G-A c.643G>A p.E215K Missense 8/27 - 10
13-32903591-G-T c.643G>T p.E215* Nonsense 8/27 - 7
13-32903591-AG-A c.643del p.E215Kfs*15 Frameshift 8/27 - 1
13-32903591-G-C c.643G>C p.E215Q Missense 8/27 - 5
13-32903587-TGAA-T c.644_646del p.E215del InFrameDeletion 8/27 - 12
13-32903592-A-G c.644A>G p.E215G Missense 8/27 - 5
13-32903592-A-C c.644A>C p.E215A Missense 8/27 - 4
13-32903592-A-T c.644A>T p.E215V Missense 8/27 - 3
13-32903593-A-C c.645A>C p.E215D Missense 8/27 - 3
13-32903593-A-T c.645A>T p.E215D Missense 8/27 - 3
13-32903594-AG-A c.646del p.A216Hfs*14 Frameshift 8/27 - 2
13-32903594-G-T c.646G>T p.A216S Missense 8/27 - 8
13-32903592-AAGC-A c.646_648del p.A216del InFrameDeletion 8/27 - 1
13-32903594-G-A c.646G>A p.A216T Missense 8/27 - 4
13-32903594-G-C c.646G>C p.A216P Missense 8/27 - 5
13-32903595-C-A c.647C>A p.A216E Missense 8/27 - 4
13-32903595-C-G c.647C>G p.A216G Missense 8/27 - 3
13-32903595-C-T c.647C>T p.A216V Missense 8/27 - 4
13-32903596-A-G c.648A>G p.A216= Synonymous 8/27 - 2
13-32903596-A-AGACGAGGAG c.648_649insGACGAGGAG p.A216_S217insDEE InFrameInsertion 8/27 - 1
13-32903597-TC-CT c.649_650delinsCT p.S217L Missense 8/27 - 4
13-32903597-T-G c.649T>G p.S217A Missense 8/27 - 5
13-32903597-T-A c.649T>A p.S217T Missense 8/27 - 5
13-32903597-T-C c.649T>C p.S217P Missense 8/27 - 3
13-32903597-TCT-GAG c.649_651delinsGAG p.S217E Missense 8/27 - 1
13-32903598-C-T c.650C>T p.S217F Missense 8/27 - 4
13-32903598-C-A c.650C>A p.S217Y Missense 8/27 - 3
13-32903598-C-G c.650C>G p.S217C Missense 8/27 - 4
13-32903600-G-T c.652G>T p.E218* Nonsense 8/27 - 6
13-32903600-G-A c.652G>A p.E218K Missense 8/27 - 6
13-32903600-G-C c.652G>C p.E218Q Missense 8/27 - 4
13-32903601-A-G c.653A>G p.E218G Missense 8/27 - 4
13-32903601-A-C c.653A>C p.E218A Missense 8/27 - 4
13-32903601-A-T c.653A>T p.E218V Missense 8/27 - 3
13-32903602-A-T c.654A>T p.E218D Missense 8/27 - 4
13-32903602-A-G c.654A>G p.E218= Synonymous 8/27 - 1
13-32903602-A-C c.654A>C p.E218D Missense 8/27 - 3
13-32903603-A-C c.655A>C p.T219P Missense 8/27 - 3
13-32903603-A-G c.655A>G p.T219A Missense 8/27 - 4
13-32903603-A-T c.655A>T p.T219S Missense 8/27 - 3
13-32903604-C-T c.656C>T p.T219I Missense 8/27 - 6
13-32903604-ACTGTATT-A c.656_662del p.T219Ifs*9 Frameshift 8/27 - 2
13-32903604-C-G c.656C>G p.T219S Missense 8/27 - 3
13-32903604-C-A c.656C>A p.T219N Missense 8/27 - 3
13-32903605-CT-C c.657del p.V220Yfs*10 Frameshift 8/27 - 3
13-32903604-CTG-C c.658_659del p.V220Ifs*4 Frameshift 8/27 - 92
13-32903606-G-A c.658G>A p.V220I Missense 8/27 - 9
13-32903606-G-C c.658G>C p.V220L Missense 8/27 - 4
13-32903606-G-T c.658G>T p.V220L Missense 8/27 - 5
13-32903604-CTGTAT-C c.658_662del p.V220Sfs*3 Frameshift 8/27 - 1
13-32903607-T-A c.659T>A p.V220E Missense 8/27 - 4
13-32903607-T-C c.659T>C p.V220A Missense 8/27 - 3
13-32903607-T-G c.659T>G p.V220G Missense 8/27 - 3
13-32903608-A-G c.660A>G p.V220= Synonymous 8/27 - 1
13-32903609-T-A c.661T>A p.F221I Missense 8/27 - 3
13-32903609-T-C c.661T>C p.F221L Missense 8/27 - 4
13-32903609-T-G c.661T>G p.F221V Missense 8/27 - 3
13-32903608-ATT-A c.662_663del p.F221Sfs*3 Frameshift 8/27 - 7
13-32903610-T-A c.662T>A p.F221Y Missense 8/27 - 3
13-32903610-T-C c.662T>C p.F221S Missense 8/27 - 4
13-32903610-T-G c.662T>G p.F221C Missense 8/27 - 3
13-32903611-T-C c.663T>C p.F221= Synonymous 8/27 - 3
13-32903611-T-G c.663T>G p.F221L Missense 8/27 - 12
13-32903611-T-A c.663T>A p.F221L Missense 8/27 - 4
13-32903612-C-A c.664C>A p.P222T Missense 8/27 - 4
13-32903612-TCC-T c.664_665del p.P222Sfs*2 Frameshift 8/27 - 4
13-32903612-C-G c.664C>G p.P222A Missense 8/27 - 3
13-32903612-C-T c.664C>T p.P222S Missense 8/27 - 4
13-32903613-C-A c.665C>A p.P222H Missense 8/27 - 4
13-32903613-C-T c.665C>T p.P222L Missense 8/27 - 7
13-32903613-C-G c.665C>G p.P222R Missense 8/27 - 4
13-32903612-CCT-C c.666_667del p.H223* Frameshift 8/27 - 2
13-32903615-C-T c.667C>T p.H223Y Missense 8/27 - 12
13-32903615-C-G c.667C>G p.H223D Missense 8/27 - 5
13-32903615-C-A c.667C>A p.H223N Missense 8/27 - 3
13-32903616-A-C c.668A>C p.H223P Missense 8/27 - 4
13-32903616-A-G c.668A>G p.H223R Missense 8/27 - 4
13-32903616-A-T c.668A>T p.H223L Missense 8/27 - 3
13-32903615-C-CA c.668dup p.H223Qfs*2 Frameshift 8/27 - 1
13-32903616-CA-C c.668del p.H223Lfs*7 Frameshift 8/27 - 3
13-32903617-T-C c.669T>C p.H223= Synonymous 8/27 - 2
13-32903617-T-A c.669T>A p.H223Q Missense 8/27 - 3
13-32903617-T-G c.669T>G p.H223Q Missense 8/27 - 3
13-32903618-G-T c.670G>T p.D224Y Missense 8/27 - 4
13-32903618-G-A c.670G>A p.D224N Missense 8/27 - 9
13-32903615-CATG-C c.670_672del p.D224del InFrameDeletion 8/27 - 3
13-32903618-GAT-AAG c.670_672delinsAAG p.D224K Missense 8/27 - 1
13-32903618-G-C c.670G>C p.D224H Missense 8/27 - 4
13-32903617-T-TGATA c.670_673dup p.T225Rfs*5 Frameshift 8/27 - 1
13-32903619-A-G c.671A>G p.D224G Missense 8/27 - 4
13-32903619-A-T c.671A>T p.D224V Missense 8/27 - 8
13-32903619-A-C c.671A>C p.D224A Missense 8/27 - 7
13-32903620-T-C c.672T>C p.D224= Synonymous 8/27 - 1
13-32903620-AT-A c.672del p.D224Efs*6 Frameshift 8/27 - 1
13-32903618-GATACTACTGCTGTAAGTAAATATGACATTGATT-G c.672_681+23del - SpliceDonorDeletion 8/27 8/26 3
13-32903620-T-A c.672T>A p.D224E Missense 8/27 - 3
13-32903620-T-G c.672T>G p.D224E Missense 8/27 - 3
13-32903621-A-G c.673A>G p.T225A Missense 8/27 - 15
13-32903621-TACTA-T c.673_676del p.T225Lfs*4 Frameshift 8/27 - 4
13-32903621-TA-T c.673del p.T225Lfs*5 Frameshift 8/27 - 1
13-32903621-A-C c.673A>C p.T225P Missense 8/27 - 3
13-32903621-A-T c.673A>T p.T225S Missense 8/27 - 3
13-32903621-AC-CT c.673_674delinsCT p.T225L Missense 8/27 - 1
13-32903622-C-A c.674C>A p.T225N Missense 8/27 - 4
13-32903622-AC-A c.674del p.T225Ifs*5 Frameshift 8/27 - 5
13-32903622-C-T c.674C>T p.T225I Missense 8/27 - 6
13-32903622-C-G c.674C>G p.T225S Missense 8/27 - 3
13-32903623-CT-C c.675del p.T226Lfs*4 Frameshift 8/27 - 1
13-32903624-TA-T c.676del p.T226Lfs*4 Frameshift 8/27 - 4
13-32903624-A-G c.676A>G p.T226A Missense 8/27 - 10
13-32903624-A-T c.676A>T p.T226S Missense 8/27 - 4
13-32903624-A-C c.676A>C p.T226P Missense 8/27 - 3
13-32903624-AC-CA c.676_677delinsCA p.T226H Missense 8/27 - 1
13-32903625-AC-A c.677del p.T226Mfs*4 Frameshift 8/27 - 7
13-32903625-C-T c.677C>T p.T226I Missense 8/27 - 6
13-32903625-C-G c.677C>G p.T226S Missense 8/27 - 3
13-32903625-C-A c.677C>A p.T226N Missense 8/27 - 3
13-32903625-CT-GG c.677_678delinsGG p.T226R Missense 8/27 - 1
13-32903626-T-C c.678T>C p.T226= Synonymous 8/27 - 1
13-32903626-T-A c.678T>A p.T226= Synonymous 8/27 - 1
13-32903626-T-G c.678T>G p.T226= Synonymous 8/27 - 1
13-32903627-G-A c.679G>A p.A227T Missense 8/27 - 13
13-32903627-G-C c.679G>C p.A227P Missense 8/27 - 10
13-32903627-G-T c.679G>T p.A227S Missense 8/27 - 4
13-32903626-T-TG c.679dup p.A227Gfs*2 SpliceDonorInsertion 8/27 - 1
13-32903628-C-T c.680C>T p.A227V Missense 8/27 - 16
13-32903628-C-A c.680C>A p.A227D Missense 8/27 - 3
13-32903628-C-G c.680C>G p.A227G Missense 8/27 - 3
13-32903629-T-A c.681T>A p.A227= Synonymous 8/27 - 1
13-32903629-T-C c.681T>C p.A227= Synonymous 8/27 - 3
13-32903629-T-G c.681T>G p.A227= Synonymous 8/27 - 1
13-32903628-C-CT c.681dup p.N228* SpliceDonorInsertion - - 1
13-32903630-G-A c.681+1G>A - IntronicSNV - 8/26 7
13-32903630-G-T c.681+1G>T - IntronicSNV - 8/26 2
13-32903630-G-GT c.681+2dup - IntronicInsertion - 8/26 4
13-32903632-A-G c.681+3A>G - IntronicSNV - 8/26 2
13-32903633-A-G c.681+4A>G - IntronicSNV - 8/26 5
13-32903633-A-T c.681+4A>T - IntronicSNV - 8/26 1
13-32903634-G-C c.681+5G>C - IntronicSNV - 8/26 2
13-32903636-A-T c.681+7A>T - IntronicSNV - 8/26 1
13-32903638-A-G c.681+9A>G - IntronicSNV - 8/26 2
13-32903640-A-T c.681+11A>T - IntronicSNV - 8/26 1
13-32903672-A-G c.681+43A>G - IntronicSNV - 8/26 1
13-32903679-G-A c.681+50G>A - IntronicSNV - 8/26 1
13-32903683-G-C c.681+54G>C - IntronicSNV - 8/26 1
13-32903685-C-G c.681+56C>G - IntronicSNV - 8/26 15
13-32903685-C-T c.681+56C>T - IntronicSNV - 8/26 34
13-32903687-T-A c.681+58T>A - IntronicSNV - 8/26 1
13-32903698-T-C c.681+69T>C - IntronicSNV - 8/26 1
13-32903706-C-G c.681+77C>G - IntronicSNV - 8/26 1
13-32903712-T-A c.681+83T>A - IntronicSNV - 8/26 1
13-32903724-C-A c.681+95C>A - IntronicSNV - 8/26 1
13-32903724-CTG-C c.681+97_681+98del - IntronicDeletion - 8/26 1
13-32903734-T-G c.681+105T>G - IntronicSNV - 8/26 1
13-32903797-C-A c.681+168C>A - IntronicSNV - 8/26 1
13-32904072-C-T c.681+443C>T - IntronicSNV - 8/26 1
13-32904326-C-T c.681+697C>T - IntronicSNV - 8/26 1
13-32905005-A-G c.682-51A>G - IntronicSNV - 8/26 1
13-32905020-T-C c.682-36T>C - IntronicSNV - 8/26 1
13-32905024-A-G c.682-32A>G - IntronicSNV - 8/26 3
13-32905026-A-C c.682-30A>C - IntronicSNV - 8/26 2
13-32905031-T-C c.682-25T>C - IntronicSNV - 8/26 1
13-32905046-A-G c.682-10A>G - IntronicSNV - 8/26 1
13-32905054-A-C c.682-2A>C - IntronicSNV - 8/26 3
13-32905054-A-G c.682-2A>G - IntronicSNV - 8/26 3
13-32905055-G-C c.682-1G>C - IntronicSNV - 8/26 2
13-32905055-G-T c.682-1G>T - IntronicSNV - 8/26 2
13-32905056-A-G c.682A>G p.N228D Missense 9/27 - 5
13-32905056-A-C c.682A>C p.N228H Missense 9/27 - 3
13-32905056-A-T c.682A>T p.N228Y Missense 9/27 - 3
13-32905056-GAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTAT-G c.682_740del p.N228Rfs*7 Unclassified 9/27 - 1
13-32905057-A-T c.683A>T p.N228I Missense 9/27 - 6
13-32905057-A-G c.683A>G p.N228S Missense 9/27 - 7
13-32905057-A-C c.683A>C p.N228T Missense 9/27 - 3
13-32905055-G-GA c.683dup p.N228Kfs*10 SpliceAcceptorInsertion 9/27 - 1
13-32905055-GA-G c.683del p.N228Mfs*2 Frameshift 9/27 - 1
13-32905058-T-G c.684T>G p.N228K Missense 9/27 - 4
13-32905058-T-A c.684T>A p.N228K Missense 9/27 - 4
13-32905058-AT-A c.684del p.N228Kfs*2 Frameshift 9/27 - 2
13-32905058-T-C c.684T>C p.N228= Synonymous 9/27 - 1
13-32905059-TG-T c.685del p.V229* Frameshift 9/27 - 3
13-32905059-G-T c.685G>T p.V229L Missense 9/27 - 4
13-32905059-G-A c.685G>A p.V229M Missense 9/27 - 7
13-32905059-G-C c.685G>C p.V229L Missense 9/27 - 3
13-32905060-T-A c.686T>A p.V229E Missense 9/27 - 3
13-32905060-T-C c.686T>C p.V229A Missense 9/27 - 4
13-32905060-T-G c.686T>G p.V229G Missense 9/27 - 3
13-32905061-G-T c.687G>T p.V229= Synonymous 9/27 - 1
13-32905062-A-G c.688A>G p.K230E Missense 9/27 - 6
13-32905062-A-T c.688A>T p.K230* Nonsense 9/27 - 8
13-32905062-A-C c.688A>C p.K230Q Missense 9/27 - 3
13-32905062-AA-GC c.688_689delinsGC p.K230A Missense 9/27 - 1
13-32905063-A-G c.689A>G p.K230R Missense 9/27 - 4
13-32905063-A-C c.689A>C p.K230T Missense 9/27 - 3
13-32905063-A-T c.689A>T p.K230I Missense 9/27 - 3
13-32905061-GAA-G c.690_691del p.S231Lfs*6 Frameshift 9/27 - 1
13-32905064-A-C c.690A>C p.K230N Missense 9/27 - 3
13-32905064-A-T c.690A>T p.K230N Missense 9/27 - 4
13-32905065-AG-CC c.691_692delinsCC p.S231P Missense 9/27 - 2
13-32905065-A-G c.691A>G p.S231G Missense 9/27 - 3
13-32905065-A-T c.691A>T p.S231C Missense 9/27 - 3
13-32905065-AGC-TGA c.691_693delinsTGA p.S231* Nonsense 9/27 - 2
13-32905065-AG-GC c.691_692delinsGC p.S231A Missense 9/27 - 1
13-32905066-G-T c.692G>T p.S231I Missense 9/27 - 4
13-32905066-G-C c.692G>C p.S231T Missense 9/27 - 7
13-32905066-G-A c.692G>A p.S231N Missense 9/27 - 7
13-32905065-A-C c.691A>C p.S231R Missense 9/27 - 6
13-32905067-C-G c.693C>G p.S231R Missense 9/27 - 5
13-32905067-C-A c.693C>A p.S231R Missense 9/27 - 5
13-32905067-C-T c.693C>T p.S231= Synonymous 9/27 - 1
13-32905068-T-C c.694T>C p.Y232H Missense 9/27 - 13
13-32905067-C-CT c.694dup p.Y232Lfs*6 Frameshift 9/27 - 4
13-32905068-T-A c.694T>A p.Y232N Missense 9/27 - 4
13-32905068-T-G c.694T>G p.Y232D Missense 9/27 - 3
13-32905069-A-G c.695A>G p.Y232C Missense 9/27 - 20
13-32905068-T-TA c.695dup p.Y232* Nonsense 9/27 - 1
13-32905069-A-C c.695A>C p.Y232S Missense 9/27 - 3
13-32905069-A-T c.695A>T p.Y232F Missense 9/27 - 3
13-32905070-T-C c.696T>C p.Y232= Synonymous 9/27 - 1
13-32905070-T-A c.696T>A p.Y232* Nonsense 9/27 - 3
13-32905070-T-G c.696T>G p.Y232* Nonsense 9/27 - 3
13-32905071-T-G c.697T>G p.F233V Missense 9/27 - 6
13-32905071-T-A c.697T>A p.F233I Missense 9/27 - 3
13-32905071-T-C c.697T>C p.F233L Missense 9/27 - 3
13-32905072-T-A c.698T>A p.F233Y Missense 9/27 - 3
13-32905072-T-C c.698T>C p.F233S Missense 9/27 - 3
13-32905072-T-G c.698T>G p.F233C Missense 9/27 - 3
13-32905069-ATT-A c.699_700del p.S234Qfs*3 Frameshift 9/27 - 1
13-32905073-T-A c.699T>A p.F233L Missense 9/27 - 3
13-32905073-T-G c.699T>G p.F233L Missense 9/27 - 4
13-32905069-AT-A c.700del p.S234Pfs*7 Frameshift 9/27 - 16
13-32905074-T-C c.700T>C p.S234P Missense 9/27 - 9
13-32905074-T-A c.700T>A p.S234T Missense 9/27 - 3
13-32905074-T-G c.700T>G p.S234A Missense 9/27 - 4
13-32905075-C-G c.701C>G p.S234C Missense 9/27 - 4
13-32905075-C-A c.701C>A p.S234Y Missense 9/27 - 3
13-32905075-C-T c.701C>T p.S234F Missense 9/27 - 3
13-32905074-TC-T c.702del p.N235Ifs*6 Frameshift 9/27 - 4
13-32905077-A-G c.703A>G p.N235D Missense 9/27 - 7
13-32905077-A-C c.703A>C p.N235H Missense 9/27 - 3
13-32905077-A-T c.703A>T p.N235Y Missense 9/27 - 3
13-32905078-A-G c.704A>G p.N235S Missense 9/27 - 9
13-32905078-A-C c.704A>C p.N235T Missense 9/27 - 3
13-32905078-A-T c.704A>T p.N235I Missense 9/27 - 4
13-32905079-T-G c.705T>G p.N235K Missense 9/27 - 8
13-32905079-T-A c.705T>A p.N235K Missense 9/27 - 3
13-32905079-AT-A c.705del p.H236Mfs*5 Frameshift 9/27 - 3
13-32905079-T-C c.705T>C p.N235= Synonymous 9/27 - 2
13-32905080-C-T c.706C>T p.H236Y Missense 9/27 - 6
13-32905080-C-A c.706C>A p.H236N Missense 9/27 - 3
13-32905080-C-G c.706C>G p.H236D Missense 9/27 - 3
13-32905080-CAT-ATG c.706_708inv p.H236M Missense 9/27 - 1
13-32905081-A-G c.707A>G p.H236R Missense 9/27 - 9
13-32905081-A-C c.707A>C p.H236P Missense 9/27 - 3
13-32905081-A-T c.707A>T p.H236L Missense 9/27 - 3
13-32905082-T-C c.708T>C p.H236= Synonymous 9/27 - 4
13-32905082-T-A c.708T>A p.H236Q Missense 9/27 - 3
13-32905082-T-G c.708T>G p.H236Q Missense 9/27 - 3
13-32905083-G-A c.709G>A p.D237N Missense 9/27 - 9
13-32905083-G-T c.709G>T p.D237Y Missense 9/27 - 6
13-32905083-G-C c.709G>C p.D237H Missense 9/27 - 3
13-32905084-A-G c.710A>G p.D237G Missense 9/27 - 14
13-32905084-A-C c.710A>C p.D237A Missense 9/27 - 6
13-32905084-A-T c.710A>T p.D237V Missense 9/27 - 10
13-32905085-T-G c.711T>G p.D237E Missense 9/27 - 4
13-32905080-CATG-C c.711_713del p.D237del InFrameDeletion 9/27 - 3
13-32905085-T-A c.711T>A p.D237E Missense 9/27 - 3
13-32905085-AT-A c.711del p.D237Efs*4 Frameshift 9/27 - 1
13-32905086-G-T c.712G>T p.E238* Nonsense 9/27 - 10
13-32905086-G-A c.712G>A p.E238K Missense 9/27 - 9
13-32905086-G-C c.712G>C p.E238Q Missense 9/27 - 8
13-32905085-T-TG c.712dup p.E238Gfs*7 Frameshift 9/27 - 3
13-32905087-A-C c.713A>C p.E238A Missense 9/27 - 4
13-32905087-A-G c.713A>G p.E238G Missense 9/27 - 3
13-32905087-A-T c.713A>T p.E238V Missense 9/27 - 3
13-32905088-A-C c.714A>C p.E238D Missense 9/27 - 3
13-32905088-A-T c.714A>T p.E238D Missense 9/27 - 3
13-32905087-A-AAAG c.714_716dup p.E238_S239insR InFrameInsertion 9/27 - 3
13-32905088-A-G c.714A>G p.E238= Synonymous 9/27 - 1
13-32905089-A-G c.715A>G p.S239G Missense 9/27 - 5
13-32905086-GA-G c.715del p.S239Vfs*2 Frameshift 9/27 - 5
13-32905086-G-GA c.715dup p.S239Kfs*6 Frameshift 9/27 - 5
13-32905089-A-T c.715A>T p.S239C Missense 9/27 - 4
13-32905089-AG-TA c.715_716delinsTA p.S239Y Missense 9/27 - 1
13-32905090-G-A c.716G>A p.S239N Missense 9/27 - 4
13-32905090-G-C c.716G>C p.S239T Missense 9/27 - 3
13-32905090-G-T c.716G>T p.S239I Missense 9/27 - 3
13-32905090-AG-A c.716del p.S239Ifs*2 Frameshift 9/27 - 1
13-32905091-T-G c.717T>G p.S239R Missense 9/27 - 4
13-32905091-T-A c.717T>A p.S239R Missense 9/27 - 4
13-32905089-A-C c.715A>C p.S239R Missense 9/27 - 4
13-32905091-T-C c.717T>C p.S239= Synonymous 9/27 - 1
13-32905091-T-TAGG c.717_718insAGG p.S239_L240insR InFrameInsertion 9/27 - 1
13-32905091-GT-G c.717del p.L240* Frameshift 9/27 - 1
13-32905092-C-A c.718C>A p.L240M Missense 9/27 - 3
13-32905092-C-G c.718C>G p.L240V Missense 9/27 - 3
13-32905090-GTC-G c.718_719del p.L240Efs*4 Frameshift 9/27 - 3
13-32905092-CT-GA c.718_719delinsGA p.L240E Missense 9/27 - 1
13-32905093-T-A c.719T>A p.L240Q Missense 9/27 - 3
13-32905093-T-C c.719T>C p.L240P Missense 9/27 - 3
13-32905093-T-G c.719T>G p.L240R Missense 9/27 - 3
13-32905092-C-CT c.719dup p.K241Efs*4 Frameshift 9/27 - 1
13-32905094-G-T c.720G>T p.L240= Synonymous 9/27 - 1
13-32905094-G-A c.720G>A p.L240= Synonymous 9/27 - 2
13-32905094-G-C c.720G>C p.L240= Synonymous 9/27 - 2
13-32905092-C-T c.718C>T p.L240= Synonymous 9/27 - 2
13-32905095-A-T c.721A>T p.K241* Nonsense 9/27 - 7
13-32905095-A-C c.721A>C p.K241Q Missense 9/27 - 3
13-32905095-A-G c.721A>G p.K241E Missense 9/27 - 4
13-32905094-GA-G c.722del p.K241Rfs*10 Frameshift 9/27 - 1
13-32905096-A-C c.722A>C p.K241T Missense 9/27 - 5
13-32905096-A-G c.722A>G p.K241R Missense 9/27 - 6
13-32905096-A-T c.722A>T p.K241M Missense 9/27 - 3
13-32905097-G-A c.723G>A p.K241= Synonymous 9/27 - 2
13-32905097-AG-A c.723del p.N243Mfs*8 Frameshift 9/27 - 4
13-32905097-G-C c.723G>C p.K241N Missense 9/27 - 4
13-32905097-G-T c.723G>T p.K241N Missense 9/27 - 5
13-32905097-GA-CT c.723_724delinsCT p.K241_K242delinsN* MultiAAMissense 9/27 - 1
13-32905098-A-G c.724A>G p.K242E Missense 9/27 - 4
13-32905098-A-T c.724A>T p.K242* Nonsense 9/27 - 2
13-32905098-A-C c.724A>C p.K242Q Missense 9/27 - 3
13-32905099-A-G c.725A>G p.K242R Missense 9/27 - 5
13-32905099-A-C c.725A>C p.K242T Missense 9/27 - 3
13-32905099-A-T c.725A>T p.K242I Missense 9/27 - 3
13-32905100-A-G c.726A>G p.K242= Synonymous 9/27 - 1
13-32905100-A-C c.726A>C p.K242N Missense 9/27 - 3
13-32905100-A-T c.726A>T p.K242N Missense 9/27 - 3
13-32905101-A-G c.727A>G p.N243D Missense 9/27 - 5
13-32905101-A-C c.727A>C p.N243H Missense 9/27 - 5
13-32905101-A-T c.727A>T p.N243Y Missense 9/27 - 3
13-32905097-G-GA c.728dup p.N243Kfs*2 Frameshift 9/27 - 4
13-32905102-A-C c.728A>C p.N243T Missense 9/27 - 3
13-32905102-A-G c.728A>G p.N243S Missense 9/27 - 3
13-32905102-A-T c.728A>T p.N243I Missense 9/27 - 3
13-32905102-A-AC c.728_729insC p.D244* Nonsense 9/27 - 3
13-32905103-ATGAT-A c.729_732del p.N243Kfs*7 Frameshift 9/27 - 13
13-32905103-ATG-A c.729_730del p.N243Kfs*2 Frameshift 9/27 - 1
13-32905103-T-A c.729T>A p.N243K Missense 9/27 - 4
13-32905103-T-G c.729T>G p.N243K Missense 9/27 - 3
13-32905102-A-AT c.729dup p.D244* Nonsense 9/27 - 3
13-32905103-T-TTAA c.729_730insTAA p.N243_D244ins* InFrameInsertion 9/27 - 2
13-32905103-T-TC c.729_730insC p.D244Rfs*2 Frameshift 9/27 - 3
13-32905104-G-A c.730G>A p.D244N Missense 9/27 - 13
13-32905104-G-T c.730G>T p.D244Y Missense 9/27 - 9
13-32905101-AATG-A c.730_732del p.D244del InFrameDeletion 9/27 - 1
13-32905104-G-C c.730G>C p.D244H Missense 9/27 - 3
13-32905105-A-G c.731A>G p.D244G Missense 9/27 - 8
13-32905105-A-C c.731A>C p.D244A Missense 9/27 - 4
13-32905105-A-T c.731A>T p.D244V Missense 9/27 - 3
13-32905106-T-A c.732T>A p.D244E Missense 9/27 - 3
13-32905106-T-G c.732T>G p.D244E Missense 9/27 - 3
13-32905107-A-G c.733A>G p.R245G Missense 9/27 - 11
13-32905107-A-T c.733A>T p.R245* Nonsense 9/27 - 6
13-32905107-AGA-TGG c.733_735delinsTGG p.R245W Missense 9/27 - 2
13-32905107-TA-T c.733del p.R245Dfs*6 Frameshift 9/27 - 3
13-32905107-AG-GC c.733_734delinsGC p.R245A Missense 9/27 - 1
13-32905107-AGA-CAT c.733_735delinsCAT p.R245H Missense 9/27 - 2
13-32905108-G-A c.734G>A p.R245K Missense 9/27 - 7
13-32905108-G-C c.734G>C p.R245T Missense 9/27 - 8
13-32905108-G-T c.734G>T p.R245I Missense 9/27 - 4
13-32905109-A-C c.735A>C p.R245S Missense 9/27 - 10
13-32905109-A-T c.735A>T p.R245S Missense 9/27 - 3
13-32905110-T-G c.736T>G p.F246V Missense 9/27 - 5
13-32905106-TAGATTTATCGCTTCTGTGAC-T c.736_755del p.F246Qfs*2 Frameshift 9/27 - 6
13-32905110-T-A c.736T>A p.F246I Missense 9/27 - 3
13-32905110-T-C c.736T>C p.F246L Missense 9/27 - 5
13-32905111-T-G c.737T>G p.F246C Missense 9/27 - 4
13-32905111-T-A c.737T>A p.F246Y Missense 9/27 - 4
13-32905111-T-C c.737T>C p.F246S Missense 9/27 - 3
13-32905109-AT-A c.738del p.F246Lfs*5 Frameshift 9/27 - 8
13-32905112-T-C c.738T>C p.F246= Synonymous 9/27 - 1
13-32905112-T-A c.738T>A p.F246L Missense 9/27 - 7
13-32905112-T-G c.738T>G p.F246L Missense 9/27 - 5
13-32905111-TTA-T c.739_740del p.I247Rfs*7 Frameshift 9/27 - 4
13-32905112-T-TA c.739dup p.I247Nfs*8 Frameshift 9/27 - 1
13-32905113-A-G c.739A>G p.I247V Missense 9/27 - 10
13-32905113-A-C c.739A>C p.I247L Missense 9/27 - 3
13-32905113-A-T c.739A>T p.I247F Missense 9/27 - 3
13-32905113-A-AAG c.739_740insAG p.I247Kfs*5 Frameshift 9/27 - 3
13-32905114-T-C c.740T>C p.I247T Missense 9/27 - 10
13-32905114-T-A c.740T>A p.I247N Missense 9/27 - 3
13-32905114-T-G c.740T>G p.I247S Missense 9/27 - 3
13-32905114-TC-AG c.740_741delinsAG p.I247K Missense 9/27