MLH1 mutL homolog 1

Annotation transcript: NM_000249.4

1458 unique variant annotations were identified in 1081 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
3-37035011-A-C c.-28A>C - 5-UTRSNV 1/19 - 1
3-37035011-A-G c.-28A>G - 5-UTRSNV 1/19 - 1
3-37035011-A-T c.-28A>T - 5-UTRSNV 1/19 - 1
3-37035032-C-A c.-7C>A - 5-UTRSNV 1/19 - 1
3-37035032-C-T c.-7C>T - 5-UTRSNV 1/19 - 1
3-37035039-A-G c.1A>G p.M1? Missense 1/19 - 5
3-37035039-A-T c.1A>T p.M1? Missense 1/19 - 1
3-37035040-T-A c.2T>A p.M1? Missense 1/19 - 2
3-37035040-T-C c.2T>C p.M1? Missense 1/19 - 3
3-37035040-T-G c.2T>G p.M1? Missense 1/19 - 2
3-37035041-G-A c.3G>A p.M1? Missense 1/19 - 1
3-37035041-G-C c.3G>C p.M1? Missense 1/19 - 1
3-37035041-G-T c.3G>T p.M1? Missense 1/19 - 1
3-37035042-GTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGC-G c.4_62del p.S2Gfs*9 InFrameDeletion 1/19 - 1
3-37035047-TC-T c.9del p.F3Lfs*14 Frameshift 1/19 - 1
3-37035050-G-A c.12G>A p.V4= Synonymous 1/19 - 1
3-37035050-G-C c.12G>C p.V4= Synonymous 1/19 - 1
3-37035050-G-T c.12G>T p.V4= Synonymous 1/19 - 1
3-37035051-G-C c.13G>C p.A5P Missense 1/19 - 1
3-37035049-TGGCAGGGGTTATTC-T c.15_28del p.G6Afs*20 Frameshift 1/19 - 2
3-37035053-AGGGGTTATTCGGCGGCT-A c.18_34del p.V7Rfs*18 Frameshift 1/19 - 1
3-37035057-G-T c.19G>T p.V7F Missense 1/19 - 1
3-37035053-AGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGC-A c.20_66del p.V7Gfs*8 Frameshift 1/19 - 1
3-37035061-T-C c.23T>C p.I8T Missense 1/19 - 1
3-37035063-C-A c.25C>A p.R9= Synonymous 1/19 - 1
3-37035063-C-T c.25C>T p.R9W Missense 1/19 - 3
3-37035065-G-C c.27G>C p.R9= Synonymous 1/19 - 1
3-37035065-G-T c.27G>T p.R9= Synonymous 1/19 - 1
3-37035065-G-A c.27G>A p.R9= Synonymous 1/19 - 2
3-37035069-C-A c.31C>A p.L11M Missense 1/19 - 2
3-37035069-CT-TA c.31_32delinsTA p.L11* Nonsense 1/19 - 1
3-37035069-GC-G c.31del p.L11Wfs*6 Frameshift 1/19 - 1
3-37035070-T-TG c.34dup p.D12Gfs*19 Frameshift 1/19 - 1
3-37035072-G-T c.34G>T p.D12Y Missense 1/19 - 2
3-37035073-A-C c.35A>C p.D12A Missense 1/19 - 1
3-37035075-CG-C c.37del p.E13Rfs*4 Frameshift 1/19 - 1
3-37035075-G-A c.37G>A p.E13K Missense 1/19 - 2
3-37035075-GAG-AAC c.37_39delinsAAC p.E13N Missense 1/19 - 1
3-37035075-G-T c.37G>T p.E13* Nonsense 1/19 - 2
3-37035078-ACA-GAC c.40_42delinsGAC p.T14D Missense 1/19 - 1
3-37035078-A-G c.40A>G p.T14A Missense 1/19 - 1
3-37035079-CAGTGGTGAACCGCATCG-TAACTTCC c.41_58delinsTAACTTCC p.T14Ifs*19 Frameshift 1/19 - 1
3-37035079-C-T c.41C>T p.T14I Missense 1/19 - 3
3-37035080-A-G c.42A>G p.T14= Synonymous 1/19 - 1
3-37035084-G-C c.46G>C p.V16L Missense 1/19 - 2
3-37035084-G-T c.46G>T p.V16L Missense 1/19 - 1
3-37035085-T-G c.47T>G p.V16G Missense 1/19 - 2
3-37035088-ACCG-A c.52_54del p.R18del InFrameDeletion 1/19 - 1
3-37035090-C-G c.52C>G p.R18G Missense 1/19 - 3
3-37035090-CGC-AAG c.52_54delinsAAG p.R18K Missense 1/19 - 1
3-37035090-C-T c.52C>T p.R18C Missense 1/19 - 3
3-37035092-C-T c.54C>T p.R18= Synonymous 1/19 - 1
3-37035092-C-CA c.55dup p.I19Nfs*12 Frameshift 1/19 - 1
3-37035093-A-T c.55A>T p.I19F Missense 1/19 - 6
3-37035095-C-G c.57C>G p.I19M Missense 1/19 - 3
3-37035095-C-T c.57C>T p.I19= Synonymous 1/19 - 1
3-37035096-GC-CA c.58_59delinsCA p.A20Q Missense 1/19 - 1
3-37035097-CG-AC c.59_60delinsAC p.A20D Missense 1/19 - 1
3-37035100-C-A c.62C>A p.A21E Missense 1/19 - 3
3-37035100-C-T c.62C>T p.A21V Missense 1/19 - 2
3-37035103-G-A c.65G>A p.G22E Missense 1/19 - 2
3-37035103-G-C c.65G>C p.G22A Missense 1/19 - 11
3-37035103-G-T c.65G>T p.G22V Missense 1/19 - 1
3-37035104-G-A c.66G>A p.G22= Synonymous 1/19 - 1
3-37035104-G-GT c.66_67insT p.E23* Nonsense 1/19 - 1
3-37035100-CG-C c.67del p.E23Kfs*13 Frameshift 1/19 - 4
3-37035105-G-A c.67G>A p.E23K Missense 1/19 - 2
3-37035105-G-T c.67G>T p.E23* Nonsense 1/19 - 1
3-37035106-GAA-G c.68_69del p.E23Gfs*7 Frameshift 1/19 - 1
3-37035107-A-C c.69A>C p.E23D Missense 1/19 - 1
3-37035107-A-T c.69A>T p.E23D Missense 1/19 - 1
3-37035108-G-C c.70G>C p.V24L Missense 1/19 - 1
3-37035111-A-G c.73A>G p.I25V Missense 1/19 - 1
3-37035111-A-T c.73A>T p.I25F Missense 1/19 - 2
3-37035112-T-C c.74T>C p.I25T Missense 1/19 - 2
3-37035114-C-T c.76C>T p.Q26* Nonsense 1/19 - 2
3-37035116-G-A c.78G>A p.Q26= Synonymous 1/19 - 1
3-37035117-CG-GC c.79_80delinsGC p.R27A Missense 1/19 - 1
3-37035118-G-A c.80G>A p.R27Q Missense 1/19 - 3
3-37035118-G-C c.80G>C p.R27P Missense 1/19 - 1
3-37035118-GG-AT c.80_81delinsAT p.R27H Missense 1/19 - 1
3-37035120-C-A c.82C>A p.P28T Missense 1/19 - 1
3-37035120-C-T c.82C>T p.P28S Missense 1/19 - 1
3-37035119-GC-G c.83del p.P28Qfs*8 Frameshift 1/19 - 1
3-37035121-C-T c.83C>T p.P28L Missense 1/19 - 8
3-37035123-GC-CG c.85_86delinsCG p.A29R Missense 1/19 - 1
3-37035123-G-T c.85G>T p.A29S Missense 1/19 - 11
3-37035124-C-G c.86C>G p.A29G Missense 1/19 - 1
3-37035124-CT-AG c.86_87inv p.A29E Missense 1/19 - 1
3-37035125-CTAATGCT-C c.87_93del p.N30Sfs*4 Frameshift 1/19 - 1
3-37035128-T-C c.90T>C p.N30= Synonymous 1/19 - 1
3-37035129-GC-TG c.91_92delinsTG p.A31C Missense 1/19 - 2
3-37035130-C-T c.92C>T p.A31V Missense 1/19 - 1
3-37035130-CT-AG c.92_93inv p.A31E Missense 1/19 - 1
3-37035132-A-G c.94A>G p.I32V Missense 1/19 - 2
3-37035132-TA-T c.94del p.I32Sfs*4 Frameshift 1/19 - 1
3-37035132-TATCAAAGAGATGATTGA-T c.94_110del p.I32Efs*15 Frameshift 1/19 - 1
3-37035133-T-A c.95T>A p.I32N Missense 1/19 - 2
3-37035134-C-CT c.96_97insT p.K33* Nonsense 1/19 - 1
3-37035135-A-G c.97A>G p.K33E Missense 1/19 - 1
3-37035136-A-G c.98A>G p.K33R Missense 1/19 - 1
3-37035138-G-A c.100G>A p.E34K Missense 1/19 - 1
3-37035138-G-T c.100G>T p.E34* Nonsense 1/19 - 1
3-37035139-A-C c.101A>C p.E34A Missense 1/19 - 5
3-37035139-A-T c.101A>T p.E34V Missense 1/19 - 1
3-37035140-G-C c.102G>C p.E34D Missense 1/19 - 1
3-37035141-A-G c.103A>G p.M35V Missense 1/19 - 1
3-37035142-T-G c.104T>G p.M35R Missense 1/19 - 3
3-37035142-T-TAA c.104_105insAA p.M35Ifs*7 Frameshift 1/19 - 1
3-37035139-AGAT-A c.105_107del p.M35del InFrameDeletion 1/19 - 2
3-37035143-TG-T c.105del p.M35Ifs*6 Frameshift 1/19 - 1
3-37035145-T-A c.107T>A p.I36N Missense 1/19 - 2
3-37035145-T-C c.107T>C p.I36T Missense 1/19 - 2
3-37035145-T-G c.107T>G p.I36S Missense 1/19 - 1
3-37035147-G-A c.109G>A p.E37K Missense 1/19 - 5
3-37035147-G-C c.109G>C p.E37Q Missense 1/19 - 2
3-37035147-G-T c.109G>T p.E37* Nonsense 1/19 - 1
3-37035148-A-G c.110A>G p.E37G Missense 1/19 - 1
3-37035149-G-C c.111G>C p.E37D Missense 1/19 - 1
3-37035150-AA-GC c.112_113delinsGC p.N38A Missense 1/19 - 1
3-37035150-A-C c.112A>C p.N38H Missense 1/19 - 7
3-37035150-A-G c.112A>G p.N38D Missense 1/19 - 4
3-37035151-A-G c.113A>G p.N38S Missense 1/19 - 9
3-37035152-C-A c.114C>A p.N38K Missense 1/19 - 2
3-37035152-C-G c.114C>G p.N38K Missense 1/19 - 3
3-37035153-TG-GC c.115_116delinsGC p.C39A Missense 1/19 - 1
3-37035154-G-A c.116G>A p.C39Y Missense 1/19 - 3
3-37035154-G-C c.116G>C p.C39S Missense 1/19 - 1
3-37035154-G-GTTTAGATGCAAAATCCACAA c.116_116+1insTTTAGATGCAAAATCCACAA p.S46Ifs*2 SpliceDonorInsertion - - 1
3-37035155-G-A c.116+1G>A - IntronicSNV - 1/18 1
3-37035159-G-A c.116+5G>A - IntronicSNV - 1/18 1
3-37035159-G-C c.116+5G>C - IntronicSNV - 1/18 6
3-37035189-C-G c.116+35C>G - IntronicSNV - 1/18 1
3-37035834-A-G c.116+680A>G - IntronicSNV - 1/18 2
3-37035834-A-T c.116+680A>T - IntronicSNV - 1/18 2
3-37035884-C-T c.116+730C>T - IntronicSNV - 1/18 1
3-37038108-A-G c.117-2A>G - IntronicSNV - 1/18 1
3-37038108-A-T c.117-2A>T - IntronicSNV - 1/18 1
3-37038107-CAGTTT-C c.117_121del p.C39* SpliceAcceptorDeletion 2/19 - 1
3-37038109-GT-G c.119del p.L40* Frameshift 2/19 - 1
3-37038114-G-A c.121G>A p.D41N Missense 2/19 - 2
3-37038114-G-C c.121G>C p.D41H Missense 2/19 - 2
3-37038114-G-T c.121G>T p.D41Y Missense 2/19 - 1
3-37038115-A-C c.122A>C p.D41A Missense 2/19 - 1
3-37038115-A-G c.122A>G p.D41G Missense 2/19 - 7
3-37038115-A-T c.122A>T p.D41V Missense 2/19 - 2
3-37038117-GCA-TTT c.124_126delinsTTT p.A42F Missense 2/19 - 1
3-37038118-C-A c.125C>A p.A42E Missense 2/19 - 1
3-37038118-C-T c.125C>T p.A42V Missense 2/19 - 1
3-37038118-CA-C c.129del p.K43Nfs*7 Frameshift 2/19 - 1
3-37038118-C-CA c.129dup p.S44Ifs*9 Frameshift 2/19 - 2
3-37038123-T-C c.130T>C p.S44P Missense 2/19 - 3
3-37038123-TC-CT c.130_131delinsCT p.S44L Missense 2/19 - 2
3-37038123-T-G c.130T>G p.S44A Missense 2/19 - 1
3-37038124-C-A c.131C>A p.S44Y Missense 2/19 - 1
3-37038124-C-T c.131C>T p.S44F Missense 2/19 - 9
3-37038125-C-T c.132C>T p.S44= Synonymous 2/19 - 1
3-37038130-G-A c.137G>A p.S46N Missense 2/19 - 2
3-37038130-G-T c.137G>T p.S46I Missense 2/19 - 5
3-37038132-TA-T c.139del p.I47Ffs*3 Frameshift 2/19 - 1
3-37038135-C-A c.142C>A p.Q48K Missense 2/19 - 1
3-37038137-A-C c.144A>C p.Q48H Missense 2/19 - 1
3-37038137-A-T c.144A>T p.Q48H Missense 2/19 - 1
3-37038139-T-A c.146T>A p.V49E Missense 2/19 - 3
3-37038147-AAA-TGT c.154_156delinsTGT p.K52C Missense 2/19 - 1
3-37038146-TAAAG-T c.155_158del p.K52Rfs*4 Frameshift 2/19 - 2
3-37038148-A-G c.155A>G p.K52R Missense 2/19 - 2
3-37038146-TA-T c.156del p.E53Rfs*4 Frameshift 2/19 - 1
3-37038151-A-C c.158A>C p.E53A Missense 2/19 - 1
3-37038152-G-C c.159G>C p.E53D Missense 2/19 - 1
3-37038152-G-T c.159G>T p.E53D Missense 2/19 - 1
3-37038151-AG-A c.161del p.G54Efs*3 Frameshift 2/19 - 1
3-37038154-G-A c.161G>A p.G54E Missense 2/19 - 1
3-37038164-AG-A c.171del p.K57Nfs*2 Frameshift 2/19 - 1
3-37038167-G-T c.174G>T p.L58F Missense 2/19 - 1
3-37038167-G-GA c.175dup p.I59Nfs*20 Frameshift 2/19 - 3
3-37038168-GA-G c.175del p.I59Ffs*33 Frameshift 2/19 - 1
3-37038169-T-A c.176T>A p.I59N Missense 2/19 - 1
3-37038171-C-T c.178C>T p.Q60* Nonsense 2/19 - 2
3-37038172-CA-C c.179del p.Q60Rfs*32 Frameshift 2/19 - 1
3-37038177-C-A c.184C>A p.Q62K Missense 2/19 - 4
3-37038177-C-T c.184C>T p.Q62* Nonsense 2/19 - 7
3-37038179-A-C c.186A>C p.Q62H Missense 2/19 - 1
3-37038180-G-A c.187G>A p.D63N Missense 2/19 - 3
3-37038180-GA-TT c.187_188delinsTT p.D63F Missense 2/19 - 1
3-37038180-G-C c.187G>C p.D63H Missense 2/19 - 2
3-37038182-C-A c.189C>A p.D63E Missense 2/19 - 3
3-37038182-C-G c.189C>G p.D63E Missense 2/19 - 1
3-37038182-C-T c.189C>T p.D63= Synonymous 2/19 - 1
3-37038184-A-G c.191A>G p.N64S Missense 2/19 - 10
3-37038186-G-A c.193G>A p.G65S Missense 2/19 - 1
3-37038186-GGCACCGGG-C c.193_201delinsC p.G65Hfs*11 Frameshift 2/19 - 1
3-37038187-G-A c.194G>A p.G65D Missense 2/19 - 4
3-37038188-CACCGGGATCAGGGTAAGTAAAACCTCAAAGT-C c.197_207+20del - SpliceDonorDeletion 2/19 2/18 1
3-37038191-C-A c.198C>A p.T66= Synonymous 2/19 - 1
3-37038191-C-T c.198C>T p.T66= Synonymous 2/19 - 2
3-37038192-G-A c.199G>A p.G67R Missense 2/19 - 50
3-37038192-G-C c.199G>C p.G67R Missense 2/19 - 13
3-37038192-GGG-AGC c.199_201delinsAGC p.G67S Missense 2/19 - 2
3-37038192-G-T c.199G>T p.G67W Missense 2/19 - 9
3-37038193-G-A c.200G>A p.G67E Missense 2/19 - 10
3-37038196-T-A c.203T>A p.I68N Missense 2/19 - 6
3-37038197-C-G c.204C>G p.I68M Missense 2/19 - 4
3-37038197-C-T c.204C>T p.I68= Synonymous 2/19 - 1
3-37038198-A-G c.205A>G p.R69G Missense 2/19 - 1
3-37038199-G-A c.206G>A p.R69K Missense 2/19 - 1
3-37038198-AG-A c.207+1del - Frameshift - 2/18 2
3-37038771-C-T c.207+571C>T - IntronicSNV - 2/18 1
3-37041320-C-A c.208-1126C>A - IntronicSNV - 2/18 1
3-37041320-C-G c.208-1126C>G - IntronicSNV - 2/18 1
3-37042443-CAGAA-C c.210_213del p.E71Ifs*20 Frameshift 3/19 - 4
3-37042448-A-C c.210A>C p.K70N Missense 3/19 - 2
3-37042448-A-G c.210A>G p.K70= Synonymous 3/19 - 1
3-37042449-G-T c.211G>T p.E71* Nonsense 3/19 - 1
3-37042446-AAAG-A c.213_215del p.E71del SpliceAcceptorDeletion 3/19 - 5
3-37042452-G-C c.214G>C p.D72H Missense 3/19 - 1
3-37042452-G-T c.214G>T p.D72Y Missense 3/19 - 1
3-37042454-T-C c.216T>C p.D72= Synonymous 3/19 - 1
3-37042456-T-C c.218T>C p.L73P Missense 3/19 - 1
3-37042456-T-G c.218T>G p.L73R Missense 3/19 - 1
3-37042458-GA-TG c.220_221delinsTG p.D74C Missense 3/19 - 1
3-37042462-T-C c.224T>C p.I75T Missense 3/19 - 1
3-37042461-AT-A c.225del p.I75Mfs*17 Frameshift 3/19 - 3
3-37042464-G-A c.226G>A p.V76I Missense 3/19 - 3
3-37042467-T-C c.229T>C p.C77R Missense 3/19 - 7
3-37042467-TG-AC c.229_230delinsAC p.C77T Missense 3/19 - 1
3-37042468-G-A c.230G>A p.C77Y Missense 3/19 - 6
3-37042476-T-C c.238T>C p.F80L Missense 3/19 - 1
3-37042476-T-G c.238T>G p.F80V Missense 3/19 - 4
3-37042478-C-A c.240C>A p.F80L Missense 3/19 - 1
3-37042478-C-G c.240C>G p.F80L Missense 3/19 - 1
3-37042480-C-T c.242C>T p.T81I Missense 3/19 - 1
3-37042482-A-G c.244A>G p.T82A Missense 3/19 - 9
3-37042483-C-T c.245C>T p.T82I Missense 3/19 - 6
3-37042488-A-G c.250A>G p.K84E Missense 3/19 - 10
3-37042488-A-T c.250A>T p.K84* Nonsense 3/19 - 1
3-37042489-AAACTG-A c.251_255del p.K84Tfs*4 Frameshift 3/19 - 1
3-37042492-T-A c.254T>A p.L85Q Missense 3/19 - 1
3-37042494-C-T c.256C>T p.Q86* Nonsense 3/19 - 1
3-37042498-C-G c.260C>G p.S87C Missense 3/19 - 1
3-37042498-C-T c.260C>T p.S87F Missense 3/19 - 1
3-37042499-CTT-C c.263_264del p.F88* Frameshift 3/19 - 1
3-37042503-G-C c.265G>C p.E89Q Missense 3/19 - 2
3-37042503-G-T c.265G>T p.E89* Nonsense 3/19 - 2
3-37042506-GA-TG c.268_269delinsTG p.D90C Missense 3/19 - 1
3-37042510-TAGCC-T c.275_278del p.A92Vfs*15 Frameshift 3/19 - 1
3-37042513-C-A c.275C>A p.A92D Missense 3/19 - 1
3-37042514-C-CT c.276_277insT p.S93* Nonsense 3/19 - 1
3-37042515-A-G c.277A>G p.S93G Missense 3/19 - 9
3-37042516-AG-A c.278del p.S93Ifs*15 Frameshift 3/19 - 1
3-37042518-AT-A c.283del p.S95Lfs*13 Frameshift 3/19 - 1
3-37042521-T-G c.283T>G p.S95A Missense 3/19 - 3
3-37042522-C-T c.284C>T p.S95F Missense 3/19 - 1
3-37042524-A-G c.286A>G p.T96A Missense 3/19 - 1
3-37042527-T-G c.289T>G p.Y97D Missense 3/19 - 1
3-37042528-A-G c.290A>G p.Y97C Missense 3/19 - 2
3-37042530-G-A c.292G>A p.G98S Missense 3/19 - 3
3-37042530-G-C c.292G>C p.G98R Missense 3/19 - 1
3-37042531-G-A c.293G>A p.G98D Missense 3/19 - 1
3-37042531-G-C c.293G>C p.G98A Missense 3/19 - 2
3-37042531-G-T c.293G>T p.G98V Missense 3/19 - 1
3-37042533-T-C c.295T>C p.F99L Missense 3/19 - 3
3-37042535-T-A c.297T>A p.F99L Missense 3/19 - 3
3-37042535-T-G c.297T>G p.F99L Missense 3/19 - 3
3-37042536-CG-GC c.298_299delinsGC p.R100A Missense 3/19 - 1
3-37042536-C-T c.298C>T p.R100* Nonsense 3/19 - 20
3-37042537-G-A c.299G>A p.R100Q Missense 3/19 - 7
3-37042537-G-C c.299G>C p.R100P Missense 3/19 - 5
3-37042539-G-A c.301G>A p.G101S Missense 3/19 - 2
3-37042539-G-C c.301G>C p.G101R Missense 3/19 - 1
3-37042539-G-T c.301G>T p.G101C Missense 3/19 - 1
3-37042540-G-A c.302G>A p.G101D Missense 3/19 - 1
3-37042540-G-T c.302G>T p.G101V Missense 3/19 - 1
3-37042541-T-G c.303T>G p.G101= Synonymous 3/19 - 1
3-37042542-G-A c.304G>A p.E102K Missense 3/19 - 4
3-37042543-A-C c.305A>C p.E102A Missense 3/19 - 1
3-37042544-G-A c.306G>A p.E102= Synonymous 3/19 - 1
3-37042544-G-C c.306G>C p.E102D Missense 3/19 - 2
3-37042544-G-T c.306G>T p.E102D Missense 3/19 - 5
3-37042545-G-A c.306+1G>A - IntronicSNV - 3/18 2
3-37042548-A-G c.306+4A>G - IntronicSNV - 3/18 1
3-37042549-G-A c.306+5G>A - IntronicSNV - 3/18 1
3-37043230-G-A c.306+686G>A - IntronicSNV - 3/18 1
3-37043256-G-A c.306+712G>A - IntronicSNV - 3/18 1
3-37044489-A-T c.307-1403A>T - IntronicSNV - 3/18 8
3-37045892-G-C c.307G>C p.A103P Missense 4/19 - 1
3-37045891-GGCTTTGGCCA-G c.309_318del p.L104* Frameshift 4/19 - 1
3-37045893-CT-C c.311del p.L104Wfs*4 Frameshift 4/19 - 1
3-37045898-G-T c.313G>T p.A105S Missense 4/19 - 1
3-37045899-C-T c.314C>T p.A105V Missense 4/19 - 1
3-37045903-C-G c.318C>G p.S106R Missense 4/19 - 1
3-37045904-A-G c.319A>G p.I107V Missense 4/19 - 1
3-37045903-CAT-C c.320_321del p.I107Kfs*14 Frameshift 4/19 - 1
3-37045905-T-G c.320T>G p.I107R Missense 4/19 - 10
3-37045909-C-G c.324C>G p.S108R Missense 4/19 - 1
3-37045911-A-C c.326A>C p.H109P Missense 4/19 - 1
3-37045911-A-G c.326A>G p.H109R Missense 4/19 - 1
3-37045912-T-C c.327T>C p.H109= Synonymous 4/19 - 1
3-37045912-T-G c.327T>G p.H109Q Missense 4/19 - 2
3-37045916-G-C c.331G>C p.A111P Missense 4/19 - 2
3-37045917-C-A c.332C>A p.A111D Missense 4/19 - 1
3-37045917-C-T c.332C>T p.A111V Missense 4/19 - 6
3-37045916-GCT-G c.333_334del p.H112Cfs*9 Frameshift 4/19 - 3
3-37045919-CA-GC c.334_335delinsGC p.H112A Missense 4/19 - 1
3-37045919-CA-TG c.334_335inv p.H112C Missense 4/19 - 1
3-37045919-C-G c.334C>G p.H112D Missense 4/19 - 2
3-37045921-T-A c.336T>A p.H112Q Missense 4/19 - 1
3-37045921-T-G c.336T>G p.H112Q Missense 4/19 - 1
3-37045922-G-A c.337G>A p.V113I Missense 4/19 - 1
3-37045925-A-G c.340A>G p.T114A Missense 4/19 - 1
3-37045926-C-G c.341C>G p.T114S Missense 4/19 - 1
3-37045926-CT-TG c.341_342delinsTG p.T114M Missense 4/19 - 1
3-37045927-T-A c.342T>A p.T114= Synonymous 4/19 - 1
3-37045927-T-C c.342T>C p.T114= Synonymous 4/19 - 1
3-37045927-T-G c.342T>G p.T114= Synonymous 4/19 - 1
3-37045930-T-TTA c.345_346insTA p.T116* Nonsense 4/19 - 1
3-37045930-T-TA c.346dup p.T116Nfs*6 Frameshift 4/19 - 1
3-37045931-A-G c.346A>G p.T116A Missense 4/19 - 1
3-37045931-TA-T c.346del p.T116Qfs*20 Frameshift 4/19 - 1
3-37045932-C-A c.347C>A p.T116K Missense 4/19 - 2
3-37045932-C-G c.347C>G p.T116R Missense 4/19 - 2
3-37045932-C-T c.347C>T p.T116I Missense 4/19 - 3
3-37045933-A-C c.348A>C p.T116= Synonymous 4/19 - 1
3-37045933-A-G c.348A>G p.T116= Synonymous 4/19 - 1
3-37045933-A-T c.348A>T p.T116= Synonymous 4/19 - 1
3-37045935-C-G c.350C>G p.T117R Missense 4/19 - 5
3-37045935-C-T c.350C>T p.T117M Missense 4/19 - 49
3-37045937-A-G c.352A>G p.K118E Missense 4/19 - 1
3-37045948-T-A c.363T>A p.D121E Missense 4/19 - 1
3-37045949-GGA-AGC c.364_366delinsAGC p.G122S Missense 4/19 - 1
3-37045953-A-G c.368A>G p.K123R Missense 4/19 - 1
3-37045956-G-A c.371G>A p.C124Y Missense 4/19 - 1
3-37045957-T-G c.372T>G p.C124W Missense 4/19 - 1
3-37045959-C-A c.374C>A p.A125E Missense 4/19 - 3
3-37045961-T-A c.376T>A p.Y126N Missense 4/19 - 2
3-37045961-TA-GC c.376_377delinsGC p.Y126A Missense 4/19 - 1
3-37045964-A-G c.379A>G p.R127G Missense 4/19 - 1
3-37045964-AG-CA c.379_380delinsCA p.R127Q Missense 4/19 - 1
3-37045964-AG-GA c.379_380delinsGA p.R127E Missense 4/19 - 1
3-37045965-G-A c.380G>A p.R127K Missense 4/19 - 3
3-37045965-G-C c.380G>C p.R127T Missense 4/19 - 1
3-37045965-G-T c.380G>T p.R127I Missense 4/19 - 1
3-37045966-G-A c.380+1G>A - IntronicSNV - 4/18 1
3-37045981-C-G c.380+16C>G - IntronicSNV - 4/18 1
3-37048483-AG-A c.382del p.A128Qfs*8 Frameshift 5/19 - 2
3-37048483-G-C c.382G>C p.A128P Missense 5/19 - 5
3-37048482-AGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGG-A c.383_441del p.A128Dfs*24 SpliceAcceptorDeletion 5/19 - 1
3-37048485-A-AT c.384_385insT p.S129* Nonsense 5/19 - 1
3-37048486-A-G c.385A>G p.S129G Missense 5/19 - 1
3-37048487-G-A c.386G>A p.S129N Missense 5/19 - 1
3-37048489-TA-GC c.388_389delinsGC p.Y130A Missense 5/19 - 1
3-37048489-T-C c.388T>C p.Y130H Missense 5/19 - 1
3-37048490-A-G c.389A>G p.Y130C Missense 5/19 - 1
3-37048490-A-T c.389A>T p.Y130F Missense 5/19 - 1
3-37048493-C-A c.392C>A p.S131* Nonsense 5/19 - 1
3-37048493-C-G c.392C>G p.S131* Nonsense 5/19 - 2
3-37048495-G-C c.394G>C p.D132H Missense 5/19 - 19
3-37048498-G-T c.397G>T p.G133* Nonsense 5/19 - 1
3-37048502-A-G c.401A>G p.K134R Missense 5/19 - 1
3-37048503-A-C c.402A>C p.K134N Missense 5/19 - 1
3-37048503-A-T c.402A>T p.K134N Missense 5/19 - 1
3-37048506-G-GA c.408dup p.A137Sfs*4 Frameshift 5/19 - 2
3-37048510-G-C c.409G>C p.A137P Missense 5/19 - 1
3-37048510-GC-G c.413del p.P138Lfs*22 Frameshift 5/19 - 1
3-37048514-C-G c.413C>G p.P138R Missense 5/19 - 2
3-37048517-C-T c.416C>T p.P139L Missense 5/19 - 1
3-37048522-C-G c.421C>G p.P141A Missense 5/19 - 1
3-37048526-G-A c.425G>A p.C142Y Missense 5/19 - 1
3-37048526-G-C c.425G>C p.C142S Missense 5/19 - 1
3-37048532-G-A c.431G>A p.G144D Missense 5/19 - 3
3-37048537-C-T c.436C>T p.Q146* Nonsense 5/19 - 2
3-37048539-A-G c.438A>G p.Q146= Synonymous 5/19 - 1
3-37048538-AAGGGACCC-A c.440_447del p.G147Dfs*22 Frameshift 5/19 - 1
3-37048543-A-C c.442A>C p.T148P Missense 5/19 - 1
3-37048546-C-T c.445C>T p.Q149* Nonsense 5/19 - 1
3-37048550-T-C c.449T>C p.I150T Missense 5/19 - 1
3-37048551-C-G c.450C>G p.I150M Missense 5/19 - 1
3-37048553-C-T c.452C>T p.T151M Missense 5/19 - 1
3-37048554-G-A c.453G>A p.T151= Synonymous 5/19 - 2
3-37048555-G-T c.453+1G>T - IntronicSNV - 5/18 2
3-37048556-T-C c.453+2T>C - IntronicSNV - 5/18 1
3-37048556-T-G c.453+2T>G - IntronicSNV - 5/18 1
3-37048633-A-G c.453+79A>G - IntronicSNV - 5/18 5
3-37049098-T-C c.453+544T>C - IntronicSNV - 5/18 1
3-37049250-AC-A c.453+696del - IntronicDeletion - 5/18 1
3-37049271-CT-C c.453+717del - IntronicDeletion - 5/18 2
3-37050304-G-A c.454-1G>A - IntronicSNV - 5/18 1
3-37050304-G-C c.454-1G>C - IntronicSNV - 5/18 1
3-37050304-G-T c.454-1G>T - IntronicSNV - 5/18 1
3-37050305-G-A c.454G>A p.V152M Missense 6/19 - 2
3-37050308-G-C c.457G>C p.E153Q Missense 6/19 - 1
3-37050312-GA-G c.461del p.D154Afs*6 Frameshift 6/19 - 1
3-37050313-C-T c.462C>T p.D154= Synonymous 6/19 - 2
3-37050312-AC-A c.463del p.L155Ffs*5 Frameshift 6/19 - 1
3-37050315-T-G c.464T>G p.L155R Missense 6/19 - 4
3-37050314-C-CT c.469dup p.Y157Lfs*15 Frameshift 6/19 - 1
3-37050314-CT-C c.469del p.Y157Tfs*3 Frameshift 6/19 - 2
3-37050320-TA-CT c.469_470delinsCT p.Y157L Missense 6/19 - 1
3-37050320-TA-GC c.469_470delinsGC p.Y157A Missense 6/19 - 2
3-37050320-T-G c.469T>G p.Y157D Missense 6/19 - 1
3-37050320-T-TC c.469_470insC p.Y157Sfs*15 Frameshift 6/19 - 1
3-37050321-A-C c.470A>C p.Y157S Missense 6/19 - 1
3-37050321-A-T c.470A>T p.Y157F Missense 6/19 - 1
3-37050323-A-G c.472A>G p.N158D Missense 6/19 - 1
3-37050322-CA-C c.473del p.N158Tfs*2 Frameshift 6/19 - 2
3-37050325-C-T c.474C>T p.N158= Synonymous 6/19 - 2
3-37050328-A-C c.477A>C p.I159= Synonymous 6/19 - 1
3-37050328-A-T c.477A>T p.I159= Synonymous 6/19 - 1
3-37050330-C-T c.479C>T p.A160V Missense 6/19 - 1
3-37050332-ACG-GAC c.481_483delinsGAC p.T161D Missense 6/19 - 1
3-37050334-G-A c.483G>A p.T161= Synonymous 6/19 - 1
3-37050335-AG-GA c.484_485delinsGA p.R162E Missense 6/19 - 1
3-37050339-AG-A c.488del p.R163Kfs*4 Frameshift 6/19 - 1
3-37050341-A-G c.490A>G p.K164E Missense 6/19 - 1
3-37050342-A-G c.491A>G p.K164R Missense 6/19 - 2
3-37050343-A-ATTCT c.492_493insTTCT p.A165Ffs*8 Frameshift 6/19 - 1
3-37050343-A-C c.492A>C p.K164N Missense 6/19 - 1
3-37050344-AG-A c.493del p.A165Lfs*2 Frameshift 6/19 - 1
3-37050347-TT-CC c.496_497delinsCC p.L166P Missense 6/19 - 1
3-37050345-C-CT c.497dup p.L166Ffs*6 Frameshift 6/19 - 1
3-37050348-T-A c.497T>A p.L166* Nonsense 6/19 - 1
3-37050349-A-C c.498A>C p.L166F Missense 6/19 - 2
3-37050352-A-AT c.501_502insT p.N168* Nonsense 6/19 - 1
3-37050352-A-C c.501A>C p.K167N Missense 6/19 - 1
3-37050352-A-T c.501A>T p.K167N Missense 6/19 - 1
3-37050348-TA-T c.503del p.N168Ifs*34 Frameshift 6/19 - 2
3-37050348-T-TA c.503dup p.N168Kfs*4 Frameshift 6/19 - 4
3-37050356-C-T c.505C>T p.P169S Missense 6/19 - 1
3-37050358-CAA-C c.507_508del p.S170* Frameshift 6/19 - 1
3-37050357-CAAGTG-C c.510_514del p.S170Rfs*20 Frameshift 6/19 - 1
3-37050359-A-C c.508A>C p.S170R Missense 6/19 - 1
3-37050361-T-A c.510T>A p.S170R Missense 6/19 - 1
3-37050361-T-G c.510T>G p.S170R Missense 6/19 - 1
3-37050363-A-G c.512A>G p.E171G Missense 6/19 - 1
3-37050362-G-GA c.513dup p.E172Rfs*20 Frameshift 6/19 - 1
3-37050366-AAT-A c.518_519del p.Y173Wfs*18 Frameshift 6/19 - 1
3-37050371-G-A c.520G>A p.G174R Missense 6/19 - 1
3-37050371-G-C c.520G>C p.G174R Missense 6/19 - 1
3-37050370-TG-T c.522del p.I176Ffs*26 Frameshift 6/19 - 1
3-37050376-A-C c.525A>C p.K175N Missense 6/19 - 1
3-37050376-A-T c.525A>T p.K175N Missense 6/19 - 1
3-37050373-GA-G c.526del p.I176Ffs*26 Frameshift 6/19 - 1
3-37050383-G-T c.532G>T p.E178* Nonsense 6/19 - 2
3-37050383-G-TTTT c.532delinsTTTT p.E178delinsF* MultiAAMissense 6/19 - 1
3-37050390-T-A c.539T>A p.V180D Missense 6/19 - 1
3-37050392-G-A c.541G>A p.G181S Missense 6/19 - 1
3-37050393-G-A c.542G>A p.G181D Missense 6/19 - 1
3-37050393-GGC-G c.542_543del p.G181Efs*10 Frameshift 6/19 - 1
3-37050393-G-T c.542G>T p.G181V Missense 6/19 - 1
3-37050394-C-G c.543C>G p.G181= Synonymous 6/19 - 2
3-37050394-C-T c.543C>T p.G181= Synonymous 6/19 - 1
3-37050395-A-G c.544A>G p.R182G Missense 6/19 - 6
3-37050395-AG-GA c.544_545delinsGA p.R182E Missense 6/19 - 1
3-37050396-G-A c.545G>A p.R182K Missense 6/19 - 1
3-37050397-G-A c.545+1G>A - IntronicSNV - 6/18 5
3-37050397-G-T c.545+1G>T - IntronicSNV - 6/18 1
3-37050398-T-A c.545+2T>A - IntronicSNV - 6/18 1
3-37050398-T-C c.545+2T>C - IntronicSNV - 6/18 1
3-37050399-A-G c.545+3A>G - IntronicSNV - 6/18 4
3-37050399-TA-T c.545+3del - IntronicDeletion - 6/18 1
3-37050398-TAC-T c.545+4_545+5del - IntronicDeletion - 6/18 1
3-37050439-C-G c.545+43C>G - IntronicSNV - 6/18 1
3-37050468-T-A c.545+72T>A - IntronicSNV - 6/18 1
3-37051667-A-C c.545+1271A>C - IntronicSNV - 6/18 1
3-37053120-T-C c.546-191T>C - IntronicSNV - 6/18 6
3-37053313-A-G c.548A>G p.Y183C Missense 7/19 - 1
3-37053316-C-A c.551C>A p.S184* Nonsense 7/19 - 1
3-37053318-G-A c.553G>A p.V185I Missense 7/19 - 1
3-37053318-G-C c.553G>C p.V185L Missense 7/19 - 3
3-37053318-G-T c.553G>T p.V185L Missense 7/19 - 1
3-37053319-T-A c.554T>A p.V185E Missense 7/19 - 1
3-37053319-T-C c.554T>C p.V185A Missense 7/19 - 1
3-37053319-T-G c.554T>G p.V185G Missense 7/19 - 5
3-37053320-A-G c.555A>G p.V185= Synonymous 7/19 - 1
3-37053321-C-T c.556C>T p.H186Y Missense 7/19 - 1
3-37053322-A-G c.557A>G p.H186R Missense 7/19 - 1
3-37053325-A-C c.560A>C p.N187T Missense 7/19 - 1
3-37053330-G-A c.565G>A p.G189S Missense 7/19 - 1
3-37053337-G-T c.572G>T p.S191I Missense 7/19 - 2
3-37053342-T-C c.577T>C p.S193P Missense 7/19 - 1
3-37053343-C-G c.578C>G p.S193* Nonsense 7/19 - 1
3-37053343-C-T c.578C>T p.S193L Missense 7/19 - 1
3-37053348-A-T c.583A>T p.K195* Nonsense 7/19 - 2
3-37053347-TA-T c.588del p.K196Nfs*6 Frameshift 7/19 - 5
3-37053354-G-A c.588+1G>A - IntronicSNV - 7/18 2
3-37053354-G-T c.588+1G>T - IntronicSNV - 7/18 3
3-37053355-T-A c.588+2T>A - IntronicSNV - 7/18 1
3-37053351-AAAGT-A c.588+3_588+6del - IntronicDeletion - 7/18 1
3-37053358-G-A c.588+5G>A - IntronicSNV - 7/18 2
3-37053358-G-C c.588+5G>C - IntronicSNV - 7/18 1
3-37053502-C-T c.589C>T p.Q197* Nonsense 8/19 - 1
3-37053507-A-AT c.594_595insT p.E199* Nonsense 8/19 - 1
3-37053508-G-A c.595G>A p.E199K Missense 8/19 - 1
3-37053508-G-C c.595G>C p.E199Q Missense 8/19 - 2
3-37053508-G-T c.595G>T p.E199* Nonsense 8/19 - 1
3-37053505-GGA-G c.597_598del p.E199Dfs*4 Frameshift 8/19 - 2
3-37053510-G-A c.597G>A p.E199= Synonymous 8/19 - 1
3-37053515-GT-G c.602del p.V201Efs*28 Frameshift 8/19 - 1
3-37053517-AG-A c.604del p.A202Lfs*27 Frameshift 8/19 - 1
3-37053518-C-G c.605C>G p.A202G Missense 8/19 - 1
3-37053518-C-T c.605C>T p.A202V Missense 8/19 - 2
3-37053523-G-C c.610G>C p.V204L Missense 8/19 - 1
3-37053525-T-TA c.613dup p.R205Kfs*21 Frameshift 8/19 - 1
3-37053535-C-A c.622C>A p.P208T Missense 8/19 - 1
3-37053539-A-G c.626A>G p.N209S Missense 8/19 - 1
3-37053542-C-T c.629C>T p.A210V Missense 8/19 - 1
3-37053546-A-C c.633A>C p.S211= Synonymous 8/19 - 1
3-37053547-A-G c.634A>G p.T212A Missense 8/19 - 1
3-37053549-C-T c.636C>T p.T212= Synonymous 8/19 - 1
3-37053550-G-A c.637G>A p.V213M Missense 8/19 - 8
3-37053550-G-T c.637G>T p.V213L Missense 8/19 - 4
3-37053557-A-G c.644A>G p.N215S Missense 8/19 - 1
3-37053559-A-G c.646A>G p.I216V Missense 8/19 - 1
3-37053560-T-C c.647T>C p.I216T Missense 8/19 - 1
3-37053560-T-G c.647T>G p.I216S Missense 8/19 - 1
3-37053562-C-A c.649C>A p.R217S Missense 8/19 - 1
3-37053562-C-T c.649C>T p.R217C Missense 8/19 - 29
3-37053563-G-A c.650G>A p.R217H Missense 8/19 - 1
3-37053567-C-T c.654C>T p.S218= Synonymous 8/19 - 1
3-37053568-A-C c.655A>C p.I219L Missense 8/19 - 37
3-37053568-A-G c.655A>G p.I219V Missense 8/19 - 117
3-37053568-A-T c.655A>T p.I219F Missense 8/19 - 32
3-37053570-C-G c.657C>G p.I219M Missense 8/19 - 1
3-37053575-GA-G c.665del p.N222Mfs*7 Frameshift 8/19 - 4
3-37053578-A-G c.665A>G p.N222S Missense 8/19 - 1
3-37053579-T-G c.666T>G p.N222K Missense 8/19 - 2
3-37053581-C-A c.668C>A p.A223D Missense 8/19 - 2
3-37053584-T-C c.671T>C p.V224A Missense 8/19 - 1
3-37053583-GT-G c.672del p.S225Vfs*4 Frameshift 8/19 - 1
3-37053586-AGT-TGA c.673_675delinsTGA p.S225* Nonsense 8/19 - 1
3-37053587-G-A c.674G>A p.S225N Missense 8/19 - 1
3-37053588-T-C c.675T>C p.S225= Synonymous 8/19 - 1
3-37053588-TCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCAT-C c.675_677+56delinsC - Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 8/19 8/18 1
3-37053589-CG-GC c.676_677delinsGC p.R226A Missense 8/19 - 1
3-37053589-C-T c.676C>T p.R226* Nonsense 8/19 - 27
3-37053590-G-A c.677G>A p.R226Q Missense 8/19 - 31
3-37053590-G-C c.677G>C p.R226P Missense 8/19 - 1
3-37053590-G-T c.677G>T p.R226L Missense 8/19 - 12
3-37053591-G-A c.677+1G>A - IntronicSNV - 8/18 2
3-37053591-G-T c.677+1G>T - IntronicSNV - 8/18 3
3-37053593-A-G c.677+3A>G - IntronicSNV - 8/18 5
3-37055924-AGAACTGATAGAAATTGGATGTGAGGATAAAACCCTAGCCTTCAAAATGAATGGTTACAT-A c.679_737del p.E227Ifs*60 InFrameDeletion 9/19 - 6
3-37055927-C-A c.682C>A p.L228M Missense 9/19 - 1
3-37055927-C-CT c.683dup p.I229Dfs*6 Frameshift 9/19 - 1
3-37055928-T-C c.683T>C p.L228P Missense 9/19 - 1
3-37055932-TA-T c.687del p.I229Mfs*10 Frameshift 9/19 - 1
3-37055933-G-A c.688G>A p.E230K Missense 9/19 - 1
3-37055933-G-T c.688G>T p.E230* Nonsense 9/19 - 1
3-37055934-A-T c.689A>T p.E230V Missense 9/19 - 1
3-37055939-G-A c.694G>A p.G232R Missense 9/19 - 2
3-37055939-G-C c.694G>C p.G232R Missense 9/19 - 2
3-37055940-G-A c.695G>A p.G232E Missense 9/19 - 1
3-37055945-G-C c.700G>C p.E234Q Missense 9/19 - 2
3-37055946-A-G c.701A>G p.E234G Missense 9/19 - 2
3-37055946-GA-G c.701del p.E234Gfs*5 Frameshift 9/19 - 2
3-37055947-G-A c.702G>A p.E234= Synonymous 9/19 - 1
3-37055949-A-T c.704A>T p.D235V Missense 9/19 - 3
3-37055952-AAAACC-A c.707_711del p.K236Tfs*69 Frameshift 9/19 - 1
3-37055960-G-A c.715G>A p.A239T Missense 9/19 - 1
3-37055966-A-G c.721A>G p.K241E Missense 9/19 - 1
3-37055967-A-C c.722A>C p.K241T Missense 9/19 - 1
3-37055967-A-G c.722A>G p.K241R Missense 9/19 - 1
3-37055968-A-C c.723A>C p.K241N Missense 9/19 - 1
3-37055968-A-T c.723A>T p.K241N Missense 9/19 - 1
3-37055970-T-C c.725T>C p.M242T Missense 9/19 - 1
3-37055971-G-A c.726G>A p.M242I Missense 9/19 - 1
3-37055967-AAATG-A c.727_730del p.N243Vfs*10 Frameshift 9/19 - 1
3-37055971-GA-G c.728del p.N243Mfs*11 Frameshift 9/19 - 1
3-37055975-G-A c.730G>A p.G244S Missense 9/19 - 1
3-37055976-G-A c.731G>A p.G244D Missense 9/19 - 14
3-37055976-G-T c.731G>T p.G244V Missense 9/19 - 4
3-37055980-AC-A c.735del p.Y245* Frameshift 9/19 - 1
3-37055982-T-G c.737T>G p.I246R Missense 9/19 - 1
3-37055983-TATCCAATGCAAAC-T c.738_750del p.S247Tfs*3 Frameshift 9/19 - 1
3-37055984-T-C c.739T>C p.S247P Missense 9/19 - 6
3-37055984-T-G c.739T>G p.S247A Missense 9/19 - 1
3-37055986-C-T c.741C>T p.S247= Synonymous 9/19 - 1
3-37055988-A-G c.743A>G p.N248S Missense 9/19 - 2
3-37055994-A-G c.749A>G p.N250S Missense 9/19 - 1
3-37056000-C-A c.755C>A p.S252* Nonsense 9/19 - 8
3-37056000-C-G c.755C>G p.S252* Nonsense 9/19 - 4
3-37056000-C-T c.755C>T p.S252L Missense 9/19 - 1
3-37056002-G-C c.757G>C p.V253L Missense 9/19 - 1
3-37056002-G-T c.757G>T p.V253L Missense 9/19 - 1
3-37056006-A-G c.761A>G p.K254R Missense 9/19 - 1
3-37056005-AAG-A c.762_763del p.K255Vfs*51 Frameshift 9/19 - 1
3-37056008-A-T c.763A>T p.K255* Nonsense 9/19 - 1
3-37056016-C-T c.771C>T p.I257= Synonymous 9/19 - 2
3-37056021-T-C c.776T>C p.L259S Missense 9/19 - 3
3-37056023-C-G c.778C>G p.L260V Missense 9/19 - 1
3-37056023-C-T c.778C>T p.L260F Missense 9/19 - 1
3-37056024-T-A c.779T>A p.L260H Missense 9/19 - 1
3-37056024-T-G c.779T>G p.L260R Missense 9/19 - 3
3-37056025-CTTCA-C c.782_785del p.F261Sfs*6 Frameshift 9/19 - 1
3-37056030-T-C c.785T>C p.I262T Missense 9/19 - 1
3-37056031-C-G c.786C>G p.I262M Missense 9/19 - 1
3-37056033-A-AC c.790dup p.H264Pfs*43 SpliceDonorInsertion - - 1
3-37056035-C-T c.790C>T p.H264Y Missense 9/19 - 1
3-37056036-CG-C c.790+1del - IntronicDeletion - 9/18 1
3-37056036-G-A c.790+1G>A - IntronicSNV - 9/18 15
3-37056036-G-C c.790+1G>C - IntronicSNV - 9/18 1
3-37056036-G-T c.790+1G>T - IntronicSNV - 9/18 1
3-37056036-G-GT c.790+2dup - IntronicInsertion - 9/18 5
3-37056037-T-A c.790+2T>A - IntronicSNV - 9/18 1
3-37056037-T-C c.790+2T>C - IntronicSNV - 9/18 2
3-37056038-A-T c.790+3A>T - IntronicSNV - 9/18 1
3-37056039-A-T c.790+4A>T - IntronicSNV - 9/18 1
3-37056040-G-A c.790+5G>A - IntronicSNV - 9/18 1
3-37056040-G-T c.790+5G>T - IntronicSNV - 9/18 1
3-37056045-A-G c.790+10A>G - IntronicSNV - 9/18 4
3-37056710-T-G c.790+675T>G - IntronicSNV - 9/18 1
3-37056990-C-A c.790+955C>A - IntronicSNV - 9/18 2
3-37057591-C-T c.791-1406C>T - IntronicSNV - 9/18 6
3-37058509-A-G c.791-488A>G - IntronicSNV - 9/18 2
3-37058996-G-A c.791-1G>A - IntronicSNV - 9/18 1
3-37058996-G-C c.791-1G>C - IntronicSNV - 9/18 1
3-37058996-G-T c.791-1G>T - IntronicSNV - 9/18 1
3-37058997-A-G c.791A>G p.H264R Missense 10/19 - 2
3-37058997-A-T c.791A>T p.H264L Missense 10/19 - 1
3-37058998-T-TCCC c.793_794insCCC p.H264_R265insP InFrameInsertion 10/19 - 1
3-37058999-C-A c.793C>A p.R265S Missense 10/19 - 7
3-37058999-CGT-AAG c.793_795delinsAAG p.R265K Missense 10/19 - 1
3-37058999-C-T c.793C>T p.R265C Missense 10/19 - 42
3-37059000-G-A c.794G>A p.R265H Missense 10/19 - 8
3-37059000-G-C c.794G>C p.R265P Missense 10/19 - 6
3-37059000-G-T c.794G>T p.R265L Missense 10/19 - 1
3-37059003-T-G c.797T>G p.L266R Missense 10/19 - 2
3-37059005-GT-AG c.799_800delinsAG p.V267R Missense 10/19 - 2
3-37059008-G-C c.802G>C p.E268Q Missense 10/19 - 1
3-37059009-A-G c.803A>G p.E268G Missense 10/19 - 6
3-37059012-C-A c.806C>A p.S269* Nonsense 10/19 - 1
3-37059012-C-G c.806C>G p.S269* Nonsense 10/19 - 5
3-37059014-AACTT-A c.808_811del p.T270Pfs*2 Frameshift 10/19 - 1
3-37059014-A-G c.808A>G p.T270A Missense 10/19 - 1
3-37059015-C-T c.809C>T p.T270I Missense 10/19 - 1
3-37059020-T-G c.814T>G p.L272V Missense 10/19 - 2
3-37059020-TT-AG c.814_815delinsAG p.L272R Missense 10/19 - 1
3-37059020-TT-GC c.814_815delinsGC p.L272A Missense 10/19 - 1
3-37059021-T-C c.815T>C p.L272S Missense 10/19 - 1
3-37059023-AGA-CAT c.817_819delinsCAT p.R273H Missense 10/19 - 2
3-37059023-AGA-TGT c.817_819delinsTGT p.R273C Missense 10/19 - 1
3-37059024-G-T c.818G>T p.R273I Missense 10/19 - 1
3-37059027-A-G c.821A>G p.K274R Missense 10/19 - 1
3-37059031-C-CA c.826dup p.I276Nfs*31 Frameshift 10/19 - 1
3-37059033-T-G c.827T>G p.I276R Missense 10/19 - 1
3-37059035-G-T c.829G>T p.E277* Nonsense 10/19 - 2
3-37059035-G-GA c.832dup p.T278Nfs*29 Frameshift 10/19 - 1
3-37059041-G-A c.835G>A p.V279M Missense 10/19 - 1
3-37059042-T-C c.836T>C p.V279A Missense 10/19 - 1
3-37059046-T-A c.840T>A p.Y280* Nonsense 10/19 - 1
3-37059048-C-T c.842C>T p.A281V Missense 10/19 - 3
3-37059051-C-G c.845C>G p.A282G Missense 10/19 - 3
3-37059051-C-T c.845C>T p.A282V Missense 10/19 - 1
3-37059052-C-G c.846C>G p.A282= Synonymous 10/19 - 1
3-37059054-A-G c.848A>G p.Y283C Missense 10/19 - 1
3-37059054-A-T c.848A>T p.Y283F Missense 10/19 - 2
3-37059055-T-A c.849T>A p.Y283* Nonsense 10/19 - 2
3-37059055-T-G c.849T>G p.Y283* Nonsense 10/19 - 1
3-37059057-T-A c.851T>A p.L284* Nonsense 10/19 - 1
3-37059061-C-T c.855C>T p.P285= Synonymous 10/19 - 1
3-37059062-A-C c.856A>C p.K286Q Missense 10/19 - 2
3-37059062-A-G c.856A>G p.K286E Missense 10/19 - 1
3-37059064-A-AT c.858_859insT p.N287* Nonsense 10/19 - 2
3-37059067-AC-A c.861del p.N287Kfs*10 Frameshift 10/19 - 1
3-37059067-C-T c.861C>T p.N287= Synonymous 10/19 - 1
3-37059065-AAC-A c.866_867del p.H289Pfs*17 Frameshift 10/19 - 2
3-37059074-C-A c.868C>A p.P290T Missense 10/19 - 1
3-37059072-A-AC c.869dup p.F291Ifs*16 Frameshift 10/19 - 1
3-37059081-CTGTA-C c.875_878del p.L292Pfs*4 Frameshift 10/19 - 1
3-37059081-T-C c.875T>C p.L292P Missense 10/19 - 1
3-37059083-T-G c.877T>G p.Y293D Missense 10/19 - 2
3-37059086-C-A c.880C>A p.L294I Missense 10/19 - 1
3-37059088-C-G c.882C>G p.L294= Synonymous 10/19 - 1
3-37059088-C-T c.882C>T p.L294= Synonymous 10/19 - 5
3-37059089-A-C c.883A>C p.S295R Missense 10/19 - 3
3-37059089-A-G c.883A>G p.S295G Missense 10/19 - 6
3-37059089-A-T c.883A>T p.S295C Missense 10/19 - 2
3-37059090-G-A c.884G>A p.S295N Missense 10/19 - 5
3-37059090-G-C c.884G>C p.S295T Missense 10/19 - 1
3-37059090-G-T c.884G>T p.S295I Missense 10/19 - 2
3-37059091-G-T c.884+1G>T - IntronicSNV - 10/18 1
3-37059092-T-C c.884+2T>C - IntronicSNV - 10/18 1
3-37059129-G-A c.884+39G>A - IntronicSNV - 10/18 1
3-37060459-T-C c.885-1342T>C - IntronicSNV - 10/18 1
3-37061803-T-A c.887T>A p.L296* Nonsense 11/19 - 2
3-37061803-T-G c.887T>G p.L296* Nonsense 11/19 - 3
3-37061804-AGA-C c.888_890delinsC p.L296Ffs*10 Frameshift 11/19 - 1
3-37061805-G-C c.889G>C p.E297Q Missense 11/19 - 1
3-37061805-G-T c.889G>T p.E297* Nonsense 11/19 - 1
3-37061812-G-GC c.896_897insC p.P300Sfs*7 Frameshift 11/19 - 1
3-37061814-C-T c.898C>T p.P300S Missense 11/19 - 1
3-37061813-T-TC c.901dup p.Q301Pfs*6 Frameshift 11/19 - 1
3-37061817-C-T c.901C>T p.Q301* Nonsense 11/19 - 6
3-37061820-AA-GC c.904_905delinsGC p.N302A Missense 11/19 - 3
3-37061823-G-C c.907G>C p.V303L Missense 11/19 - 1
3-37061824-T-A c.908T>A p.V303E Missense 11/19 - 1
3-37061824-T-TG c.910dup p.D304Gfs*3 Frameshift 11/19 - 1
3-37061826-G-C c.910G>C p.D304H Missense 11/19 - 1
3-37061826-G-T c.910G>T p.D304Y Missense 11/19 - 1
3-37061827-A-G c.911A>G p.D304G Missense 11/19 - 2
3-37061827-A-T c.911A>T p.D304V Missense 11/19 - 2
3-37061827-GA-G c.911del p.D304Vfs*63 Frameshift 11/19 - 1
3-37061828-T-A c.912T>A p.D304E Missense 11/19 - 1
3-37061828-T-G c.912T>G p.D304E Missense 11/19 - 1
3-37061834-T-A c.918T>A p.N306K Missense 11/19 - 2
3-37061834-T-G c.918T>G p.N306K Missense 11/19 - 1
3-37061836-T-A c.920T>A p.V307E Missense 11/19 - 1
3-37061839-A-C c.923A>C p.H308P Missense 11/19 - 1
3-37061840-C-A c.924C>A p.H308Q Missense 11/19 - 1
3-37061840-C-G c.924C>G p.H308Q Missense 11/19 - 1
3-37061841-C-G c.925C>G p.P309A Missense 11/19 - 1
3-37061841-C-T c.925C>T p.P309S Missense 11/19 - 2
3-37061843-C-A c.927C>A p.P309= Synonymous 11/19 - 1
3-37061844-A-G c.928A>G p.T310A Missense 11/19 - 1
3-37061847-A-G c.931A>G p.K311E Missense 11/19 - 1
3-37061850-C-A c.934C>A p.H312N Missense 11/19 - 1
3-37061850-C-T c.934C>T p.H312Y Missense 11/19 - 1
3-37061851-A-C c.935A>C p.H312P Missense 11/19 - 1
3-37061852-T-C c.936T>C p.H312= Synonymous 11/19 - 1
3-37061861-C-A c.945C>A p.H315Q Missense 11/19 - 1
3-37061861-C-G c.945C>G p.H315Q Missense 11/19 - 2
3-37061865-C-A c.949C>A p.L317M Missense 11/19 - 2
3-37061865-C-G c.949C>G p.L317V Missense 11/19 - 1
3-37061870-AC-A c.954del p.H318Qfs*49 Frameshift 11/19 - 2
3-37061870-C-A c.954C>A p.H318Q Missense 11/19 - 1
3-37061870-C-T c.954C>T p.H318= Synonymous 11/19 - 1
3-37061871-G-A c.955G>A p.E319K Missense 11/19 - 2
3-37061874-G-A c.958G>A p.E320K Missense 11/19 - 1
3-37061878-G-T c.962G>T p.S321I Missense 11/19 - 1
3-37061883-C-A c.967C>A p.L323M Missense 11/19 - 2
3-37061884-T-A c.968T>A p.L323Q Missense 11/19 - 1
3-37061889-C-T c.973C>T p.R325W Missense 11/19 - 1
3-37061890-G-A c.974G>A p.R325Q Missense 11/19 - 2
3-37061890-G-T c.974G>T p.R325L Missense 11/19 - 1
3-37061891-GGT-G c.977_978del p.V326Afs*35 Frameshift 11/19 - 1
3-37061893-T-A c.977T>A p.V326E Missense 11/19 - 1
3-37061893-T-C c.977T>C p.V326A Missense 11/19 - 6
3-37061895-C-T c.979C>T p.Q327* Nonsense 11/19 - 4
3-37061901-C-A c.985C>A p.H329N Missense 11/19 - 1
3-37061902-A-C c.986A>C p.H329P Missense 11/19 - 9
3-37061900-GCACATCGAGAGCAAGCTCCTGGGCTC-G c.987_1012del p.H329Qfs*24 Frameshift 11/19 - 1
3-37061902-ACAT-A c.988_990del p.I330del InFrameDeletion 11/19 - 3
3-37061904-A-G c.988A>G p.I330V Missense 11/19 - 1
3-37061907-G-A c.991G>A p.E331K Missense 11/19 - 1
3-37061908-GA-G c.992del p.E331Gfs*36 Frameshift 11/19 - 1
3-37061907-GAGAGC-G c.993_997del p.S332Afs*28 Frameshift 11/19 - 1
3-37061911-G-A c.995G>A p.S332N Missense 11/19 - 1
3-37061909-GAGCA-G c.997_1000del p.K333Sfs*33 Frameshift 11/19 - 2
3-37061916-C-CT c.1001dup p.L335Pfs*27 Frameshift 11/19 - 1
3-37061918-TCCTGG-T c.1002_1006del p.G336Qfs*24 Frameshift 11/19 - 1
3-37061923-G-A c.1007G>A p.G336D Missense 11/19 - 2
3-37061925-TC-CG c.1009_1010delinsCG p.S337R Missense 11/19 - 1
3-37061925-TC-T c.1011del p.N338Ifs*29 Frameshift 11/19 - 2
3-37061929-A-G c.1013A>G p.N338S Missense 11/19 - 5
3-37061935-C-T c.1019C>T p.S340F Missense 11/19 - 1
3-37061936-C-T c.1020C>T p.S340= Synonymous 11/19 - 2
3-37061937-AG-GA c.1021_1022delinsGA p.R341E Missense 11/19 - 1
3-37061937-AG-TA c.1021_1022delinsTA p.R341* Nonsense 11/19 - 1
3-37061937-AG-A c.1023del p.M342Cfs*25 Frameshift 11/19 - 1
3-37061940-A-G c.1024A>G p.M342V Missense 11/19 - 3
3-37061940-GA-G c.1024del p.M342Cfs*25 Frameshift 11/19 - 2
3-37061940-GATGTACTTCACCCAGGTCAGGGCGCTTCTCATCCAGCTACTTCTCTGGGGCCTTTGAAA-G c.1024_1038+44del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/19 11/18 1
3-37061944-A-G c.1028A>G p.Y343C Missense 11/19 - 1
3-37061945-C-A c.1029C>A p.Y343* Nonsense 11/19 - 1
3-37061945-C-G c.1029C>G p.Y343* Nonsense 11/19 - 2
3-37061950-C-T c.1034C>T p.T345I Missense 11/19 - 1
3-37061949-A-AC c.1036dup p.Q346Pfs*16 SpliceDonorInsertion 11/19 - 1
3-37061952-C-T c.1036C>T p.Q346* Nonsense 11/19 - 1
3-37061953-A-G c.1037A>G p.Q346R Missense 11/19 - 3
3-37061954-G-A c.1038G>A p.Q346= Synonymous 11/19 - 1
3-37061954-G-C c.1038G>C p.Q346H Missense 11/19 - 2
3-37061954-G-T c.1038G>T p.Q346H Missense 11/19 - 2
3-37061955-G-T c.1038+1G>T - IntronicSNV - 11/18 1
3-37062040-T-C c.1038+86T>C - IntronicSNV - 11/18 4
3-37062040-T-G c.1038+86T>G - IntronicSNV - 11/18 2
3-37062854-C-T c.1038+900C>T - IntronicSNV - 11/18 2
3-37062959-G-T c.1038+1005G>T - IntronicSNV - 11/18 1
3-37067050-A-G c.1039-78A>G - IntronicSNV - 11/18 2
3-37067050-A-T c.1039-78A>T - IntronicSNV - 11/18 2
3-37067097-A-T c.1039-31A>T - IntronicSNV - 11/18 1
3-37067120-T-A c.1039-8T>A - IntronicSNV - 11/18 1
3-37067129-C-A c.1040C>A p.T347N Missense 12/19 - 1
3-37067131-T-C c.1042T>C p.L348= Synonymous 12/19 - 1
3-37067133-G-A c.1044G>A p.L348= Synonymous 12/19 - 1
3-37067134-C-CT c.1046dup p.P350Tfs*12 Frameshift 12/19 - 1
3-37067139-A-C c.1050A>C p.P350= Synonymous 12/19 - 1
3-37067139-A-G c.1050A>G p.P350= Synonymous 12/19 - 1
3-37067139-A-T c.1050A>T p.P350= Synonymous 12/19 - 1
3-37067139-CA-C c.1050del p.G351Dfs*16 Frameshift 12/19 - 1
3-37067140-G-A c.1051G>A p.G351R Missense 12/19 - 1
3-37067146-TG-T c.1057del p.A353Lfs*14 Frameshift 12/19 - 1
3-37067145-TGCTG-T c.1059_1062del p.G354Pfs*12 Frameshift 12/19 - 1
3-37067156-C-T c.1067C>T p.S356F Missense 12/19 - 1
3-37067158-G-T c.1069G>T p.G357W Missense 12/19 - 1
3-37067171-A-G c.1082A>G p.K361R Missense 12/19 - 1
3-37067174-C-A c.1085C>A p.S362Y Missense 12/19 - 1
3-37067174-C-T c.1085C>T p.S362F Missense 12/19 - 1
3-37067179-A-C c.1090A>C p.T364P Missense 12/19 - 1
3-37067182-A-G c.1093A>G p.S365G Missense 12/19 - 1
3-37067183-G-A c.1094G>A p.S365N Missense 12/19 - 1
3-37067184-T-C c.1095T>C p.S365= Synonymous 12/19 - 1
3-37067185-C-A c.1096C>A p.L366M Missense 12/19 - 1
3-37067189-C-A c.1100C>A p.T367N Missense 12/19 - 1
3-37067188-AC-A c.1101del p.S368Rfs*33 Frameshift 12/19 - 1
3-37067192-C-T c.1103C>T p.S368L Missense 12/19 - 5
3-37067193-G-A c.1104G>A p.S368= Synonymous 12/19 - 1
3-37067193-G-C c.1104G>C p.S368= Synonymous 12/19 - 1
3-37067193-G-T c.1104G>T p.S368= Synonymous 12/19 - 1
3-37067193-G-GT c.1105dup p.S369Ffs*7 Frameshift 12/19 - 1
3-37067194-TC-AA c.1105_1106delinsAA p.S369N Missense 12/19 - 1
3-37067195-C-T c.1106C>T p.S369F Missense 12/19 - 1
3-37067198-C-T c.1109C>T p.S370F Missense 12/19 - 1
3-37067213-G-A c.1124G>A p.S375N Missense 12/19 - 1
3-37067214-T-C c.1125T>C p.S375= Synonymous 12/19 - 1
3-37067217-T-C c.1128T>C p.D376= Synonymous 12/19 - 2
3-37067218-A-G c.1129A>G p.K377E Missense 12/19 - 1
3-37067219-A-G c.1130A>G p.K377R Missense 12/19 - 2
3-37067224-T-C c.1135T>C p.Y379H Missense 12/19 - 1
3-37067225-A-C c.1136A>C p.Y379S Missense 12/19 - 1
3-37067225-A-G c.1136A>G p.Y379C Missense 12/19 - 3
3-37067227-G-A c.1138G>A p.A380T Missense 12/19 - 2
3-37067227-G-T c.1138G>T p.A380S Missense 12/19 - 1
3-37067228-C-T c.1139C>T p.A380V Missense 12/19 - 1
3-37067229-C-A c.1140C>A p.A380= Synonymous 12/19 - 1
3-37067229-C-G c.1140C>G p.A380= Synonymous 12/19 - 1
3-37067229-C-T c.1140C>T p.A380= Synonymous 12/19 - 1
3-37067230-C-T c.1141C>T p.H381Y Missense 12/19 - 1
3-37067231-A-G c.1142A>G p.H381R Missense 12/19 - 1
3-37067236-A-G c.1147A>G p.M383V Missense 12/19 - 2
3-37067237-T-A c.1148T>A p.M383K Missense 12/19 - 1
3-37067237-T-C c.1148T>C p.M383T Missense 12/19 - 2
3-37067239-G-C c.1150G>C p.V384L Missense 12/19 - 1
3-37067240-T-A c.1151T>A p.V384D Missense 12/19 - 56
3-37067242-C-T c.1153C>T p.R385C Missense 12/19 - 16
3-37067243-G-A c.1154G>A p.R385H Missense 12/19 - 3
3-37067243-G-C c.1154G>C p.R385P Missense 12/19 - 1
3-37067243-G-T c.1154G>T p.R385L Missense 12/19 - 1
3-37067250-T-C c.1161T>C p.D387= Synonymous 12/19 - 1
3-37067249-A-AT c.1162dup p.S388Ffs*7 Frameshift 12/19 - 3
3-37067252-C-CT c.1163_1164insT p.R389Pfs*6 Frameshift 12/19 - 2
3-37067252-C-T c.1163C>T p.S388F Missense 12/19 - 2
3-37067251-TCC-T c.1164_1165del p.R389Gfs*5 Frameshift 12/19 - 1
3-37067253-C-T c.1164C>T p.S388= Synonymous 12/19 - 1
3-37067254-C-A c.1165C>A p.R389= Synonymous 12/19 - 1
3-37067254-C-G c.1165C>G p.R389G Missense 12/19 - 1
3-37067254-CG-TA c.1165_1166delinsTA p.R389* Nonsense 12/19 - 2
3-37067254-C-T c.1165C>T p.R389W Missense 12/19 - 6
3-37067255-G-A c.1166G>A p.R389Q Missense 12/19 - 3
3-37067256-G-A c.1167G>A p.R389= Synonymous 12/19 - 1
3-37067254-CG-C c.1168del p.E390Nfs*11 Frameshift 12/19 - 1
3-37067259-A-G c.1170A>G p.E390= Synonymous 12/19 - 1
3-37067260-C-A c.1171C>A p.Q391K Missense 12/19 - 1
3-37067260-C-T c.1171C>T p.Q391* Nonsense 12/19 - 3
3-37067261-A-G c.1172A>G p.Q391R Missense 12/19 - 1
3-37067262-GA-G c.1175del p.K392Sfs*9 Frameshift 12/19 - 1
3-37067264-A-C c.1175A>C p.K392T Missense 12/19 - 2
3-37067266-C-A c.1177C>A p.L393I Missense 12/19 - 1
3-37067267-T-C c.1178T>C p.L393P Missense 12/19 - 1
3-37067275-T-A c.1186T>A p.F396I Missense 12/19 - 1
3-37067276-T-C c.1187T>C p.F396S Missense 12/19 - 1
3-37067281-C-T c.1192C>T p.Q398* Nonsense 12/19 - 2
3-37067284-C-G c.1195C>G p.P399A Missense 12/19 - 1
3-37067283-GC-G c.1196del p.P399Lfs*2 Frameshift 12/19 - 1
3-37067283-G-GC c.1196dup p.L400Sfs*17 Frameshift 12/19 - 1
3-37067287-C-G c.1198C>G p.L400V Missense 12/19 - 2
3-37067290-GA-G c.1201del p.S401Afs*90 Frameshift 12/19 - 1
3-37067293-A-T c.1204A>T p.K402* Nonsense 12/19 - 1
3-37067300-T-C c.1211T>C p.L404P Missense 12/19 - 1
3-37067304-C-G c.1215C>G p.S405= Synonymous 12/19 - 1
3-37067305-A-T c.1216A>T p.S406C Missense 12/19 - 1
3-37067305-CAGTCAG-C c.1216_1221del p.S406_Q407del InFrameDeletion 12/19 - 1
3-37067306-G-A c.1217G>A p.S406N Missense 12/19 - 12
3-37067308-C-T c.1219C>T p.Q407* Nonsense 12/19 - 4
3-37067309-A-G c.1220A>G p.Q407R Missense 12/19 - 1
3-37067312-CCCAGGCCATTGTCACAGAGGATAAGACAGATATTT-C c.1225_1259del p.Q409* Frameshift 12/19 - 1
3-37067314-C-G c.1225C>G p.Q409E Missense 12/19 - 1
3-37067314-C-T c.1225C>T p.Q409* Nonsense 12/19 - 2
3-37067315-A-C c.1226A>C p.Q409P Missense 12/19 - 1
3-37067315-A-G c.1226A>G p.Q409R Missense 12/19 - 1
3-37067315-CAG-C c.1226_1227del p.Q409Rfs*7 Frameshift 12/19 - 1
3-37067317-GC-G c.1230del p.I411Lfs*80 Frameshift 12/19 - 1
3-37067320-A-G c.1231A>G p.I411V Missense 12/19 - 1
3-37067323-GTC-ATG c.1234_1236delinsATG p.V412M Missense 12/19 - 1
3-37067326-A-G c.1237A>G p.T413A Missense 12/19 - 1
3-37067327-C-T c.1238C>T p.T413I Missense 12/19 - 1
3-37067328-A-G c.1239A>G p.T413= Synonymous 12/19 - 1
3-37067329-AG-A c.1240del p.E414Rfs*77 Frameshift 12/19 - 1
3-37067329-G-A c.1240G>A p.E414K Missense 12/19 - 1
3-37067329-G-T c.1240G>T p.E414* Nonsense 12/19 - 1
3-37067330-GA-G c.1241del p.E414Gfs*77 Frameshift 12/19 - 1
3-37067332-G-T c.1243G>T p.D415Y Missense 12/19 - 1
3-37067335-A-G c.1246A>G p.K416E Missense 12/19 - 2
3-37067335-A-T c.1246A>T p.K416* Nonsense 12/19 - 1
3-37067336-A-G c.1247A>G p.K416R Missense 12/19 - 1
3-37067340-A-G c.1251A>G p.T417= Synonymous 12/19 - 1
3-37067339-CAG-C c.1252_1253del p.D418Yfs*3 Frameshift 12/19 - 2
3-37067344-AT-A c.1258del p.S420Lfs*71 Frameshift 12/19 - 1
3-37067348-C-G c.1259C>G p.S420C Missense 12/19 - 1
3-37067350-A-G c.1261A>G p.S421G Missense 12/19 - 1
3-37067350-TA-T c.1261del p.S421Vfs*70 Frameshift 12/19 - 1
3-37067354-GC-AG c.1265_1266delinsAG p.G422E Missense 12/19 - 1
3-37067356-AG-GC c.1267_1268delinsGC p.R423A Missense 12/19 - 1
3-37067357-G-A c.1268G>A p.R423K Missense 12/19 - 1
3-37067357-G-C c.1268G>C p.R423T Missense 12/19 - 1
3-37067360-C-G c.1271C>G p.A424G Missense 12/19 - 1
3-37067361-CT-C c.1272del p.R425Gfs*66 Frameshift 12/19 - 1
3-37067362-AG-A c.1275del p.R425Sfs*66 Frameshift 12/19 - 1
3-37067365-C-T c.1276C>T p.Q426* Nonsense 12/19 - 8
3-37067366-A-T c.1277A>T p.Q426L Missense 12/19 - 1
3-37067367-G-C c.1278G>C p.Q426H Missense 12/19 - 1
3-37067371-G-A c.1282G>A p.D428N Missense 12/19 - 1
3-37067372-A-G c.1283A>G p.D428G Missense 12/19 - 1
3-37067376-G-A c.1287G>A p.E429= Synonymous 12/19 - 1
3-37067377-G-A c.1288G>A p.E430K Missense 12/19 - 2
3-37067378-A-AC c.1289_1290insC p.E430Dfs*4 Frameshift 12/19 - 1
3-37067379-G-C c.1290G>C p.E430D Missense 12/19 - 1
3-37067379-G-T c.1290G>T p.E430D Missense 12/19 - 1
3-37067381-T-A c.1292T>A p.M431K Missense 12/19 - 1
3-37067383-C-A c.1294C>A p.L432I Missense 12/19 - 1
3-37067383-C-G c.1294C>G p.L432V Missense 12/19 - 1
3-37067386-G-C c.1297G>C p.E433Q Missense 12/19 - 2
3-37067395-GC-G c.1310del p.P437Lfs*54 Frameshift 12/19 - 1
3-37067404-G-T c.1315G>T p.E439* Nonsense 12/19 - 1
3-37067407-G-A c.1318G>A p.V440M Missense 12/19 - 1
3-37067410-G-A c.1321G>A p.A441T Missense 12/19 - 10
3-37067411-C-T c.1322C>T p.A441V Missense 12/19 - 2
3-37067412-T-C c.1323T>C p.A441= Synonymous 12/19 - 1
3-37067414-C-T c.1325C>T p.A442V Missense 12/19 - 1
3-37067416-A-C c.1327A>C p.K443Q Missense 12/19 - 2
3-37067416-A-G c.1327A>G p.K443E Missense 12/19 - 1
3-37067421-T-TA c.1332_1333insA p.Q445Tfs*34 Frameshift 12/19 - 1
3-37067422-C-T c.1333C>T p.Q445* Nonsense 12/19 - 1
3-37067426-G-A c.1337G>A p.S446N Missense 12/19 - 1
3-37067431-G-T c.1342G>T p.E448* Nonsense 12/19 - 1
3-37067430-GGA-G c.1343_1344del p.E448Gfs*30 Frameshift 12/19 - 1
3-37067433-G-C c.1344G>C p.E448D Missense 12/19 - 1
3-37067434-G-A c.1345G>A p.G449R Missense 12/19 - 2
3-37067432-A-AG c.1348dup p.D450Gfs*29 Frameshift 12/19 - 1
3-37067437-G-T c.1348G>T p.D450Y Missense 12/19 - 5
3-37067440-A-G c.1351A>G p.T451A Missense 12/19 - 2
3-37067441-CA-C c.1354del p.T452Qfs*39 Frameshift 12/19 - 1
3-37067443-A-G c.1354A>G p.T452A Missense 12/19 - 2
3-37067443-A-T c.1354A>T p.T452S Missense 12/19 - 3
3-37067444-C-CA c.1358dup p.T455Dfs*24 Frameshift 12/19 - 2
3-37067447-A-C c.1358A>C p.K453T Missense 12/19 - 1
3-37067448-G-A c.1359G>A p.K453= Synonymous 12/19 - 2
3-37067448-G-C c.1359G>C p.K453N Missense 12/19 - 2
3-37067449-G-A c.1360G>A p.G454R Missense 12/19 - 1
3-37067449-G-C c.1360G>C p.G454R Missense 12/19 - 4
3-37067454-T-A c.1365T>A p.T455= Synonymous 12/19 - 1
3-37067456-C-A c.1367C>A p.S456* Nonsense 12/19 - 1
3-37067456-C-T c.1367C>T p.S456L Missense 12/19 - 1
3-37067456-TC-T c.1367del p.S456* Frameshift 12/19 - 1
3-37067461-A-AT c.1373dup p.M458Ifs*21 Frameshift 12/19 - 1
3-37067463-G-A c.1374G>A p.M458I Missense 12/19 - 1
3-37067465-CA-TT c.1376_1377delinsTT p.S459F Missense 12/19 - 1
3-37067467-G-A c.1378G>A p.E460K Missense 12/19 - 1
3-37067468-A-C c.1379A>C p.E460A Missense 12/19 - 2
3-37067470-A-G c.1381A>G p.K461E Missense 12/19 - 1
3-37067470-A-T c.1381A>T p.K461* Nonsense 12/19 - 5
3-37067472-G-C c.1383G>C p.K461N Missense 12/19 - 1
3-37067472-G-T c.1383G>T p.K461N Missense 12/19 - 1
3-37067474-G-A c.1385G>A p.R462K Missense 12/19 - 1
3-37067474-G-T c.1385G>T p.R462I Missense 12/19 - 1
3-37067476-G-A c.1387G>A p.G463R Missense 12/19 - 2
3-37067476-G-C c.1387G>C p.G463R Missense 12/19 - 2
3-37067477-G-A c.1388G>A p.G463E Missense 12/19 - 1
3-37067477-G-T c.1388G>T p.G463V Missense 12/19 - 1
3-37067481-T-TA c.1393dup p.T465Nfs*14 Frameshift 12/19 - 1
3-37067486-C-T c.1397C>T p.S466F Missense 12/19 - 1
3-37067487-C-T c.1398C>T p.S466= Synonymous 12/19 - 1
3-37067489-AG-A c.1400del p.S467Tfs*24 Frameshift 12/19 - 1
3-37067489-G-A c.1400G>A p.S467N Missense 12/19 - 1
3-37067490-C-T c.1401C>T p.S467= Synonymous 12/19 - 1
3-37067499-G-A c.1409+1G>A - IntronicSNV - 12/18 1
3-37067499-G-C c.1409+1G>C - IntronicSNV - 12/18 2
3-37067500-T-A c.1409+2T>A - IntronicSNV - 12/18 1
3-37068079-T-C c.1409+581T>C - IntronicSNV - 12/18 3
3-37068079-T-G c.1409+581T>G - IntronicSNV - 12/18 3
3-37068234-G-A c.1409+736G>A - IntronicSNV - 12/18 1
3-37068969-G-A c.1410-1306G>A - IntronicSNV - 12/18 6
3-37069845-TC-T c.1410-430del - IntronicDeletion - 12/18 1
3-37070106-C-T c.1410-169C>T - IntronicSNV - 12/18 8
3-37070273-A-C c.1410-2A>C - IntronicSNV - 12/18 1
3-37070273-A-G c.1410-2A>G - IntronicSNV - 12/18 1
3-37070272-CAGAAAG-C c.1411_1416del p.K471_R472del InFrameDeletion 13/19 - 1
3-37070272-CAGAA-C c.1411_1414del p.K471Dfs*19 SpliceAcceptorDeletion 13/19 - 3
3-37070274-GAA-G c.1411_1412del p.K471Efs*7 SpliceAcceptorDeletion 13/19 - 1
3-37070279-A-T c.1414A>T p.R472* Nonsense 13/19 - 1
3-37070276-AAG-A c.1415_1416del p.R472Tfs*6 Frameshift 13/19 - 1
3-37070283-A-G c.1418A>G p.H473R Missense 13/19 - 1
3-37070285-C-A c.1420C>A p.R474= Synonymous 13/19 - 1
3-37070285-C-G c.1420C>G p.R474G Missense 13/19 - 1
3-37070285-C-T c.1420C>T p.R474W Missense 13/19 - 1
3-37070286-G-A c.1421G>A p.R474Q Missense 13/19 - 1
3-37070294-T-G c.1429T>G p.S477A Missense 13/19 - 1
3-37070295-C-G c.1430C>G p.S477C Missense 13/19 - 1
3-37070298-A-C c.1433A>C p.D478A Missense 13/19 - 1
3-37070302-TGGA-T c.1437_1439del p.E480del InFrameDeletion 13/19 - 6
3-37070303-G-T c.1438G>T p.E480* Nonsense 13/19 - 3
3-37070304-A-G c.1439A>G p.E480G Missense 13/19 - 1
3-37070306-A-G c.1441A>G p.M481V Missense 13/19 - 1
3-37070312-G-A c.1447G>A p.E483K Missense 13/19 - 2
3-37070315-G-C c.1450G>C p.D484H Missense 13/19 - 1
3-37070316-GA-G c.1451del p.D484Vfs*7 Frameshift 13/19 - 2
3-37070318-G-C c.1453G>C p.D485H Missense 13/19 - 1
3-37070320-T-A c.1455T>A p.D485E Missense 13/19 - 1
3-37070320-T-G c.1455T>G p.D485E Missense 13/19 - 1
3-37070322-C-T c.1457C>T p.S486F Missense 13/19 - 2
3-37070324-C-T c.1459C>T p.R487* Nonsense 13/19 - 12
3-37070325-G-A c.1460G>A p.R487Q Missense 13/19 - 3
3-37070325-G-C c.1460G>C p.R487P Missense 13/19 - 1
3-37070325-GA-G c.1463del p.K488Rfs*3 Frameshift 13/19 - 1
3-37070324-CGAAAG-C c.1464_1468del p.K488Nfs*13 Frameshift 13/19 - 3
3-37070329-G-A c.1464G>A p.K488= Synonymous 13/19 - 1
3-37070332-A-C c.1467A>C p.E489D Missense 13/19 - 1
3-37070337-C-A c.1472C>A p.T491N Missense 13/19 - 1
3-37070352-C-G c.1487C>G p.P496R Missense 13/19 - 1
3-37070353-C-CTAAA c.1488_1489insTAAA p.R497* Nonsense 13/19 - 1
3-37070348-A-AC c.1489dup p.R497Pfs*6 Frameshift 13/19 - 6
3-37070348-AC-A c.1489del p.R497Gfs*11 Frameshift 13/19 - 5
3-37070354-C-CCG c.1489_1490insCG p.R497Pfs*12 Frameshift 13/19 - 1
3-37070354-C-G c.1489C>G p.R497G Missense 13/19 - 2
3-37070354-CG-AA c.1489_1490delinsAA p.R497K Missense 13/19 - 1
3-37070354-C-T c.1489C>T p.R497W Missense 13/19 - 1
3-37070362-GATC-G c.1500_1502del p.I501del InFrameDeletion 13/19 - 3
3-37070369-A-G c.1504A>G p.N502D Missense 13/19 - 1
3-37070374-C-G c.1509C>G p.L503= Synonymous 13/19 - 1
3-37070378-TA-T c.1513del p.S505Vfs*3 Frameshift 13/19 - 1
3-37070382-T-C c.1517T>C p.V506A Missense 13/19 - 8
3-37070390-C-T c.1525C>T p.L509F Missense 13/19 - 1
3-37070393-C-T c.1528C>T p.Q510* Nonsense 13/19 - 2
3-37070393-CAGGAAGAAATT-C c.1530_1540del p.E511* Frameshift 13/19 - 1
3-37070395-G-GT c.1530_1531insT p.E511* Nonsense 13/19 - 1
3-37070398-A-G c.1533A>G p.E511= Synonymous 13/19 - 1
3-37070400-AAATTAATGAGC-A c.1537_1547del p.I513Gfs*3 Frameshift 13/19 - 1
3-37070410-G-A c.1545G>A p.E515= Synonymous 13/19 - 1
3-37070410-G-GC c.1546dup p.Q516Pfs*4 Frameshift 13/19 - 1
3-37070414-G-T c.1549G>T p.G517* Nonsense 13/19 - 1
3-37070417-C-T c.1552C>T p.H518Y Missense 13/19 - 1
3-37070418-A-G c.1553A>G p.H518R Missense 13/19 - 2
3-37070421-A-G c.1556A>G p.E519G Missense 13/19 - 1
3-37070422-G-GT c.1557_1558insT p.V520Cfs*8 SpliceDonorInsertion 13/19 - 1
3-37070424-G-A c.1558+1G>A - IntronicSNV - 13/18 6
3-37070424-G-T c.1558+1G>T - IntronicSNV - 13/18 2
3-37070434-G-A c.1558+11G>A - IntronicSNV - 13/18 1
3-37070437-G-A c.1558+14G>A - IntronicSNV - 13/18 6
3-37074668-A-G c.1558+4245A>G - IntronicSNV - 13/18 1
3-37075984-A-G c.1558+5561A>G - IntronicSNV - 13/18 1
3-37081675-A-C c.1559-2A>C - IntronicSNV - 13/18 1
3-37081675-A-G c.1559-2A>G - IntronicSNV - 13/18 1
3-37081675-A-T c.1559-2A>T - IntronicSNV - 13/18 1
3-37081677-T-C c.1559T>C p.V520A Missense 14/19 - 1
3-37081679-C-A c.1561C>A p.L521I Missense 14/19 - 2
3-37081679-TC-T c.1561del p.L521Sfs*14 Frameshift 14/19 - 1
3-37081682-C-T c.1564C>T p.R522W Missense 14/19 - 2
3-37081683-G-A c.1565G>A p.R522Q Missense 14/19 - 1
3-37081688-ATGTTGCATAACCACTCCTTCGT-TTCTCC c.1570_1592delinsTTCTCC p.M524Ffs*27 Frameshift 14/19 - 1
3-37081690-G-A c.1572G>A p.M524I Missense 14/19 - 2
3-37081690-G-C c.1572G>C p.M524I Missense 14/19 - 4
3-37081690-G-T c.1572G>T p.M524I Missense 14/19 - 2
3-37081691-T-G c.1573T>G p.L525V Missense 14/19 - 1
3-37081694-C-T c.1576C>T p.H526Y Missense 14/19 - 2
3-37081704-C-G c.1586C>G p.S529C Missense 14/19 - 1
3-37081704-CCTT-C c.1588_1590del p.F530del InFrameDeletion 14/19 - 1
3-37081706-T-C c.1588T>C p.F530L Missense 14/19 - 1
3-37081708-C-A c.1590C>A p.F530L Missense 14/19 - 1
3-37081708-C-G c.1590C>G p.F530L Missense 14/19 - 1
3-37081707-T-C c.1589T>C p.F530S Missense 14/19 - 1
3-37081713-G-T c.1595G>T p.G532V Missense 14/19 - 1
3-37081716-G-A c.1598G>A p.C533Y Missense 14/19 - 2
3-37081720-TG-T c.1602del p.N535Ifs*56 Frameshift 14/19 - 1
3-37081727-C-T c.1609C>T p.Q537* Nonsense 14/19 - 2
3-37081730-T-A c.1612T>A p.W538R Missense 14/19 - 1
3-37081730-T-C c.1612T>C p.W538R Missense 14/19 - 1
3-37081730-T-G c.1612T>G p.W538G Missense 14/19 - 1
3-37081732-G-A c.1614G>A p.W538* Nonsense 14/19 - 1
3-37081739-G-A c.1621G>A p.A541T Missense 14/19 - 4
3-37081739-G-C c.1621G>C p.A541P Missense 14/19 - 1
3-37081742-C-T c.1624C>T p.Q542* Nonsense 14/19 - 2
3-37081743-A-T c.1625A>T p.Q542L Missense 14/19 - 4
3-37081748-C-T c.1630C>T p.Q544* Nonsense 14/19 - 1
3-37081751-A-G c.1633A>G p.T545A Missense 14/19 - 1
3-37081754-A-G c.1636A>G p.K546E Missense 14/19 - 1
3-37081755-A-G c.1637A>G p.K546R Missense 14/19 - 1
3-37081759-ATACCTTC-A c.1643_1649del p.Y548Sfs*41 Frameshift 14/19 - 1
3-37081761-A-G c.1643A>G p.Y548C Missense 14/19 - 1
3-37081762-C-G c.1644C>G p.Y548* Nonsense 14/19 - 1
3-37081764-T-C c.1646T>C p.L549P Missense 14/19 - 4
3-37081767-T-C c.1649T>C p.L550P Missense 14/19 - 3
3-37081770-A-C c.1652A>C p.N551T Missense 14/19 - 4
3-37081770-A-G c.1652A>G p.N551S Missense 14/19 - 1
3-37081771-C-T c.1653C>T p.N551= Synonymous 14/19 - 1
3-37081775-ACC-TAA c.1657_1659delinsTAA p.T553* Nonsense 14/19 - 1
3-37081783-T-C c.1665T>C p.L555= Synonymous 14/19 - 1
3-37081785-G-A c.1667G>A p.S556N Missense 14/19 - 1
3-37081785-G-C c.1667G>C p.S556T Missense 14/19 - 1
3-37081785-G-T c.1667G>T p.S556I Missense 14/19 - 3
3-37081784-AG-A c.1667+1del - IntronicDeletion - 14/18 3
3-37081786-G-A c.1667+1G>A - IntronicSNV - 14/18 1
3-37081787-GT-G c.1667+2del - IntronicDeletion - 14/18 1
3-37081787-T-C c.1667+2T>C - IntronicSNV - 14/18 1
3-37082874-T-C c.1668-885T>C - IntronicSNV - 14/18 2
3-37083740-A-G c.1668-19A>G - IntronicSNV - 14/18 7
3-37083740-A-T c.1668-19A>T - IntronicSNV - 14/18 7
3-37083758-G-A c.1668-1G>A - IntronicSNV - 14/18 1
3-37083758-G-T c.1668-1G>T - IntronicSNV - 14/18 1
3-37083763-G-T c.1672G>T p.E558* Nonsense 15/19 - 2
3-37083767-T-G c.1676T>G p.L559R Missense 15/19 - 5
3-37083768-GT-G c.1679del p.F560Sfs*31 Frameshift 15/19 - 1
3-37083771-C-CT c.1681dup p.Y561Lfs*7 Frameshift 15/19 - 3
3-37083772-T-C c.1681T>C p.Y561H Missense 15/19 - 2
3-37083774-C-G c.1683C>G p.Y561* Nonsense 15/19 - 1
3-37083775-C-T c.1684C>T p.Q562* Nonsense 15/19 - 3
3-37083779-T-TA c.1689dup p.L564Tfs*4 Frameshift 15/19 - 1
3-37083779-T-TATAA c.1689_1690insTAAA p.L564* Nonsense 15/19 - 1
3-37083780-A-G c.1689A>G p.I563M Missense 15/19 - 1
3-37083779-TACTC-T c.1690_1693del p.L564Ffs*26 Frameshift 15/19 - 2
3-37083781-C-T c.1690C>T p.L564F Missense 15/19 - 1
3-37083783-TC-T c.1692del p.I565Ffs*26 Frameshift 15/19 - 1
3-37083784-A-T c.1693A>T p.I565F Missense 15/19 - 1
3-37083787-T-C c.1696T>C p.Y566H Missense 15/19 - 1
3-37083800-AT-A c.1713del p.F571Lfs*20 Frameshift 15/19 - 1
3-37083805-GGT-G c.1717_1718del p.V573Sfs*11 Frameshift 15/19 - 1
3-37083812-T-C c.1721T>C p.L574P Missense 15/19 - 6
3-37083815-G-A c.1724G>A p.R575K Missense 15/19 - 1
3-37083820-TC-AG c.1729_1730delinsAG p.S577R Missense 15/19 - 1
3-37083820-T-G c.1729T>G p.S577A Missense 15/19 - 1
3-37083821-C-T c.1730C>T p.S577L Missense 15/19 - 4
3-37083822-G-A c.1731G>A p.S577= Synonymous 15/19 - 23
3-37083822-G-C c.1731G>C p.S577= Synonymous 15/19 - 13
3-37083822-G-T c.1731G>T p.S577= Synonymous 15/19 - 11
3-37083823-G-A c.1731+1G>A - IntronicSNV - 15/18 4
3-37083823-G-C c.1731+1G>C - IntronicSNV - 15/18 2
3-37083823-G-T c.1731+1G>T - IntronicSNV - 15/18 2
3-37083826-A-G c.1731+4A>G - IntronicSNV - 15/18 1
3-37083827-G-A c.1731+5G>A - IntronicSNV - 15/18 1
3-37083836-CT-C c.1731+18del - IntronicDeletion - 15/18 1
3-37083880-G-A c.1731+58G>A - IntronicSNV - 15/18 1
3-37089008-AGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCT-A c.1734_1792del p.E578Dfs*12 Unclassified 16/19 - 1
3-37089011-A-G c.1733A>G p.E578G Missense 16/19 - 4
3-37089013-C-T c.1735C>T p.P579S Missense 16/19 - 1
3-37089013-GCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGAC-G c.1735_1793del p.P579Rfs*11 InFrameDeletion 16/19 - 1
3-37089015-A-G c.1737A>G p.P579= Synonymous 16/19 - 1
3-37089020-CG-AT c.1742_1743delinsAT p.P581H Missense 16/19 - 1
3-37089020-C-T c.1742C>T p.P581L Missense 16/19 - 11
3-37089021-CG-C c.1743del p.L582Sfs*9 Frameshift 16/19 - 1
3-37089021-G-A c.1743G>A p.P581= Synonymous 16/19 - 2
3-37089021-G-C c.1743G>C p.P581= Synonymous 16/19 - 1
3-37089022-C-G c.1744C>G p.L582V Missense 16/19 - 6
3-37089022-C-T c.1744C>T p.L582F Missense 16/19 - 4
3-37089022-GCTC-G c.1744_1746del p.L582del InFrameDeletion 16/19 - 1
3-37089023-T-C c.1745T>C p.L582P Missense 16/19 - 2
3-37089024-C-T c.1746C>T p.L582= Synonymous 16/19 - 1
3-37089031-C-A c.1753C>A p.L585I Missense 16/19 - 1
3-37089031-CT-GC c.1753_1754delinsGC p.L585A Missense 16/19 - 1
3-37089032-T-C c.1754T>C p.L585P Missense 16/19 - 1
3-37089032-T-G c.1754T>G p.L585R Missense 16/19 - 2
3-37089031-C-CT c.1755dup p.A586Cfs*7 Frameshift 16/19 - 2
3-37089034-G-C c.1756G>C p.A586P Missense 16/19 - 4
3-37089034-G-T c.1756G>T p.A586S Missense 16/19 - 1
3-37089034-GC-G c.1758del p.M587Cfs*4 Frameshift 16/19 - 1
3-37089034-G-GC c.1758dup p.M587Hfs*6 Frameshift 16/19 - 7
3-37089037-A-G c.1759A>G p.M587V Missense 16/19 - 1
3-37089041-T-C c.1763T>C p.L588P Missense 16/19 - 2
3-37089044-C-A c.1766C>A p.A589D Missense 16/19 - 3
3-37089044-C-T c.1766C>T p.A589V Missense 16/19 - 2
3-37089048-A-AG c.1771dup p.D591Gfs*2 Frameshift 16/19 - 2
3-37089049-AG-A c.1771del p.D591Ifs*25 Frameshift 16/19 - 2
3-37089046-TTAGA-T c.1772_1775del p.D591Vfs*24 Frameshift 16/19 - 1
3-37089050-A-G c.1772A>G p.D591G Missense 16/19 - 1
3-37089053-G-A c.1775G>A p.S592N Missense 16/19 - 1
3-37089058-G-GC c.1780_1781insC p.E594Afs*16 Frameshift 16/19 - 1
3-37089056-CAG-C c.1783_1784del p.S595Wfs*14 Frameshift 16/19 - 1
3-37089061-AG-CC c.1783_1784delinsCC p.S595P Missense 16/19 - 1
3-37089064-G-C c.1786G>C p.G596R Missense 16/19 - 1
3-37089064-G-GA c.1786_1787insA p.G596Efs*14 Frameshift 16/19 - 1
3-37089064-G-T c.1786G>T p.G596C Missense 16/19 - 1
3-37089068-TGG-T c.1790_1791del p.W597Yfs*12 Frameshift 16/19 - 1
3-37089069-G-A c.1791G>A p.W597* Nonsense 16/19 - 1
3-37089071-C-T c.1793C>T p.T598I Missense 16/19 - 2
3-37089077-A-G c.1799A>G p.E600G Missense 16/19 - 1
3-37089080-A-G c.1802A>G p.D601G Missense 16/19 - 3
3-37089082-G-T c.1804G>T p.G602C Missense 16/19 - 1
3-37089085-C-A c.1807C>A p.P603T Missense 16/19 - 1
3-37089086-C-G c.1808C>G p.P603R Missense 16/19 - 6
3-37089086-C-T c.1808C>T p.P603L Missense 16/19 - 2
3-37089088-A-T c.1810A>T p.K604* Nonsense 16/19 - 1
3-37089091-G-C c.1813G>C p.E605Q Missense 16/19 - 1
3-37089091-G-T c.1813G>T p.E605* Nonsense 16/19 - 1
3-37089092-A-C c.1814A>C p.E605A Missense 16/19 - 1
3-37089093-A-T c.1815A>T p.E605D Missense 16/19 - 1
3-37089098-T-A c.1820T>A p.L607H Missense 16/19 - 8
3-37089101-C-A c.1823C>A p.A608D Missense 16/19 - 4
3-37089103-G-T c.1825G>T p.E609* Nonsense 16/19 - 1
3-37089109-CA-C c.1831del p.I611Lfs*5 Frameshift 16/19 - 2
3-37089110-T-C c.1832T>C p.I611T Missense 16/19 - 1
3-37089109-A-AT c.1833dup p.V612Cfs*2 Frameshift 16/19 - 2
3-37089109-ATTGTTGAGTT-A c.1833_1842del p.V612* Frameshift 16/19 - 1
3-37089109-ATTG-A c.1835_1837del p.V612del InFrameDeletion 16/19 - 1
3-37089112-GTTGAGT-G c.1837_1842del p.E613_F614del InFrameDeletion 16/19 - 1
3-37089115-G-T c.1837G>T p.E613* Nonsense 16/19 - 1
3-37089120-T-G c.1842T>G p.F614L Missense 16/19 - 1
3-37089120-T-TC c.1843dup p.L615Pfs*6 Frameshift 16/19 - 1
3-37089124-A-G c.1846A>G p.K616E Missense 16/19 - 1
3-37089129-G-GT c.1851_1852insT p.K618* Nonsense 16/19 - 1
3-37089129-G-T c.1851G>T p.K617N Missense 16/19 - 1
3-37089122-TGAA-T c.1852_1854del p.K618del InFrameDeletion 16/19 - 46
3-37089130-AA-GC c.1852_1853delinsGC p.K618A Missense 16/19 - 35
3-37089130-AA-GT c.1852_1853delinsGT p.K618V Missense 16/19 - 1
3-37089130-AA-TG c.1852_1853delinsTG p.K618W Missense 16/19 - 1
3-37089130-A-G c.1852A>G p.K618E Missense 16/19 - 10
3-37089130-A-T c.1852A>T p.K618* Nonsense 16/19 - 3
3-37089131-A-C c.1853A>C p.K618T Missense 16/19 - 18
3-37089131-A-G c.1853A>G p.K618R Missense 16/19 - 4
3-37089131-A-T c.1853A>T p.K618M Missense 16/19 - 2
3-37089131-A-TTCTT c.1853delinsTTCTT p.K618Ifs*4 Frameshift 16/19 - 3
3-37089131-AG-A c.1855del p.A619Lfs*18 Frameshift 16/19 - 3
3-37089133-G-C c.1855G>C p.A619P Missense 16/19 - 2
3-37089136-G-A c.1858G>A p.E620K Missense 16/19 - 1
3-37089138-G-A c.1860G>A p.E620= Synonymous 16/19 - 1
3-37089141-G-GT c.1863_1864insT p.L622Sfs*10 Frameshift 16/19 - 3
3-37089141-TG-T c.1863del p.M621Ifs*16 Frameshift 16/19 - 3
3-37089142-C-A c.1864C>A p.L622I Missense 16/19 - 1
3-37089143-T-A c.1865T>A p.L622H Missense 16/19 - 8
3-37089143-T-C c.1865T>C p.L622P Missense 16/19 - 1
3-37089142-CT-C c.1866del p.A623Qfs*14 Frameshift 16/19 - 1
3-37089148-G-C c.1870G>C p.D624H Missense 16/19 - 1
3-37089148-G-T c.1870G>T p.D624Y Missense 16/19 - 1
3-37089153-T-G c.1875T>G p.Y625* Nonsense 16/19 - 1
3-37089154-T-C c.1876T>C p.F626L Missense 16/19 - 2
3-37089156-C-A c.1878C>A p.F626L Missense 16/19 - 1
3-37089156-C-G c.1878C>G p.F626L Missense 16/19 - 1
3-37089154-TTCTC-T c.1878_1881del p.S627Wfs*9 Frameshift 16/19 - 1
3-37089158-C-T c.1880C>T p.S627F Missense 16/19 - 1
3-37089158-CTT-C c.1882_1883del p.L628Gfs*3 Frameshift 16/19 - 1
3-37089164-AAATTG-A c.1888_1892del p.I630* Frameshift 16/19 - 1
3-37089166-A-AT c.1890dup p.D631* Nonsense 16/19 - 4
3-37089169-TGA-T c.1891_1892del p.D631* Frameshift 16/19 - 2
3-37089170-A-C c.1892A>C p.D631A Missense 16/19 - 1
3-37089171-AT-A c.1893del p.D631Efs*6 Frameshift 16/19 - 1
3-37089174-G-A c.1896G>A p.E632= Synonymous 16/19 - 2
3-37089174-G-C c.1896G>C p.E632D Missense 16/19 - 2
3-37089174-G-T c.1896G>T p.E632D Missense 16/19 - 1
3-37089175-G-T c.1896+1G>T - IntronicSNV - 16/18 2
3-37089176-T-C c.1896+2T>C - IntronicSNV - 16/18 2
3-37089179-G-A c.1896+5G>A - IntronicSNV - 16/18 3
3-37090006-A-G c.1897-2A>G - IntronicSNV - 16/18 2
3-37090008-GGAAGGGAA-G c.1897_1904del p.E633Pfs*9 SpliceAcceptorDeletion 17/19 - 1
3-37090009-GAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGA-G c.1898_1956del p.E633Afs*11 InFrameDeletion 17/19 - 3
3-37090011-G-A c.1900G>A p.G634R Missense 17/19 - 1
3-37090016-C-A c.1905C>A p.N635K Missense 17/19 - 1
3-37090016-C-G c.1905C>G p.N635K Missense 17/19 - 2
3-37090018-T-C c.1907T>C p.L636P Missense 17/19 - 5
3-37090023-G-A c.1912G>A p.G638R Missense 17/19 - 1
3-37090023-G-T c.1912G>T p.G638* Nonsense 17/19 - 1
3-37090029-C-A c.1918C>A p.P640T Missense 17/19 - 4
3-37090029-C-T c.1918C>T p.P640S Missense 17/19 - 8
3-37090030-C-T c.1919C>T p.P640L Missense 17/19 - 7
3-37090032-CT-C c.1923del p.L642* Frameshift 17/19 - 1
3-37090035-C-G c.1924C>G p.L642V Missense 17/19 - 1
3-37090036-T-TG c.1926dup p.I643Dfs*2 Frameshift 17/19 - 1
3-37090039-T-TG c.1928_1929insG p.I643Mfs*2 Frameshift 17/19 - 1
3-37090037-GATTGACAACT-G c.1929_1938del p.I643Mfs*15 Frameshift 17/19 - 1
3-37090041-G-A c.1930G>A p.D644N Missense 17/19 - 2
3-37090045-A-AG c.1934_1935insG p.N645Kfs*19 Frameshift 17/19 - 1
3-37090048-A-G c.1937A>G p.Y646C Missense 17/19 - 11
3-37090049-T-G c.1938T>G p.Y646* Nonsense 17/19 - 1
3-37090050-G-A c.1939G>A p.V647M Missense 17/19 - 1
3-37090050-G-C c.1939G>C p.V647L Missense 17/19 - 1
3-37090050-G-T c.1939G>T p.V647L Missense 17/19 - 1
3-37090053-C-T c.1942C>T p.P648S Missense 17/19 - 10
3-37090054-C-T c.1943C>T p.P648L Missense 17/19 - 5
3-37090069-T-G c.1958T>G p.L653R Missense 17/19 - 3
3-37090070-G-A c.1959G>A p.L653= Synonymous 17/19 - 1
3-37090070-G-T c.1959G>T p.L653= Synonymous 17/19 - 4
3-37090072-C-T c.1961C>T p.P654L Missense 17/19 - 5
3-37090074-A-G c.1963A>G p.I655V Missense 17/19 - 6
3-37090074-A-T c.1963A>T p.I655F Missense 17/19 - 1
3-37090075-T-A c.1964T>A p.I655N Missense 17/19 - 1
3-37090075-T-C c.1964T>C p.I655T Missense 17/19 - 3
3-37090078-T-C c.1967T>C p.F656S Missense 17/19 - 1
3-37090083-C-A c.1972C>A p.L658I Missense 17/19 - 2
3-37090083-C-T c.1972C>T p.L658F Missense 17/19 - 1
3-37090086-CG-GC c.1975_1976delinsGC p.R659A Missense 17/19 - 1
3-37090086-C-T c.1975C>T p.R659* Nonsense 17/19 - 16
3-37090087-G-A c.1976G>A p.R659Q Missense 17/19 - 9
3-37090087-G-C c.1976G>C p.R659P Missense 17/19 - 11
3-37090087-G-T c.1976G>T p.R659L Missense 17/19 - 6
3-37090089-C-T c.1978C>T p.L660= Synonymous 17/19 - 1
3-37090091-A-C c.1980A>C p.L660= Synonymous 17/19 - 1
3-37090091-A-G c.1980A>G p.L660= Synonymous 17/19 - 1
3-37090091-A-T c.1980A>T p.L660= Synonymous 17/19 - 1
3-37090092-G-T c.1981G>T p.A661S Missense 17/19 - 1
3-37090095-A-C c.1984A>C p.T662P Missense 17/19 - 5
3-37090095-A-G c.1984A>G p.T662A UnclassifiedSNV 17/19 - 1
3-37090095-A-T c.1984A>T p.T662S Missense 17/19 - 1
3-37090096-C-G c.1985C>G p.T662S Missense 17/19 - 1
3-37090099-A-C c.1988A>C p.E663A Missense 17/19 - 3
3-37090099-A-G c.1988A>G p.E663G Missense 17/19 - 2
3-37090100-G-A c.1989G>A p.E663= Synonymous 17/19 - 1
3-37090100-G-C c.1989G>C p.E663D Missense 17/19 - 1
3-37090100-G-T c.1989G>T p.E663D Missense 17/19 - 6
3-37090101-G-A c.1989+1G>A - IntronicSNV - 17/18 2
3-37090106-T-G c.1989+6T>G - IntronicSNV - 17/18 1
3-37090274-C-T c.1990-121C>T - IntronicSNV - 17/18 4
3-37090393-AGGT-A c.1990_1992del p.V664del InFrameDeletion 18/19 - 1
3-37090398-A-G c.1993A>G p.N665D Missense 18/19 - 1
3-37090401-T-C c.1996T>C p.W666R Missense 18/19 - 2
3-37090402-G-A c.1997G>A p.W666* Nonsense 18/19 - 1
3-37090403-G-A c.1998G>A p.W666* Nonsense 18/19 - 3
3-37090407-G-A c.2002G>A p.E668K Missense 18/19 - 1
3-37090407-GA-G c.2004del p.E669Kfs*114 Frameshift 18/19 - 1
3-37090410-G-A c.2005G>A p.E669K Missense 18/19 - 1
3-37090411-A-C c.2006A>C p.E669A Missense 18/19 - 2
3-37090414-A-G c.2009A>G p.K670R Missense 18/19 - 1
3-37090415-G-A c.2010G>A p.K670K UnclassifiedSNV 18/19 - 1
3-37090420-GT-G c.2019del p.F673Lfs*110 Frameshift 18/19 - 1
3-37090425-G-A c.2020G>A p.E674K Missense 18/19 - 1
3-37090429-G-T c.2024G>T p.S675I Missense 18/19 - 1
3-37090428-A-C c.2023A>C p.S675R Missense 18/19 - 1
3-37090430-C-A c.2025C>A p.S675R Missense 18/19 - 1
3-37090430-C-G c.2025C>G p.S675R Missense 18/19 - 1
3-37090432-T-C c.2027T>C p.L676P Missense 18/19 - 3
3-37090432-T-G c.2027T>G p.L676R Missense 18/19 - 1
3-37090434-A-C c.2029A>C p.S677R Missense 18/19 - 1
3-37090438-AAAGAATGCGCTATG-A c.2033_2046del p.K678Ifs*11 Frameshift 18/19 - 1
3-37090440-G-T c.2035G>T p.E679* Nonsense 18/19 - 2
3-37090441-A-C c.2036A>C p.E679A Missense 18/19 - 1
3-37090441-A-G c.2036A>G p.E679G Missense 18/19 - 1
3-37090439-AGAATGCGCTATGTTCTATTCCATCCG-A c.2038_2063del p.C680Afs*5 Frameshift 18/19 - 1
3-37090443-T-C c.2038T>C p.C680R Missense 18/19 - 3
3-37090443-TG-AC c.2038_2039delinsAC p.C680T Missense 18/19 - 1
3-37090445-C-A c.2040C>A p.C680* Nonsense 18/19 - 2
3-37090445-C-T c.2040C>T p.C680C UnclassifiedSNV 18/19 - 3
3-37090446-G-A c.2041G>A p.A681T Missense 18/19 - 38
3-37090446-G-C c.2041G>C p.A681P Missense 18/19 - 2
3-37090447-C-A c.2042C>A p.A681D Missense 18/19 - 1
3-37090447-C-T c.2042C>T p.A681V Missense 18/19 - 2
3-37090447-CTA-C c.2044_2045del p.M682Vfs*11 Frameshift 18/19 - 4
3-37090455-T-G c.2050T>G p.Y684D Missense 18/19 - 1
3-37090457-T-A c.2052T>A p.Y684* Nonsense 18/19 - 1
3-37090457-T-G c.2052T>G p.Y684* Nonsense 18/19 - 2
3-37090459-C-A c.2054C>A p.S685Y Missense 18/19 - 1
3-37090459-C-T c.2054C>T p.S685F Missense 18/19 - 3
3-37090464-C-A c.2059C>A p.R687= Synonymous 18/19 - 1
3-37090464-C-G c.2059C>G p.R687G Missense 18/19 - 1
3-37090464-C-T c.2059C>T p.R687W Missense 18/19 - 20
3-37090465-G-A c.2060G>A p.R687Q Missense 18/19 - 3
3-37090470-C-T c.2065C>T p.Q689* Nonsense 18/19 - 1
3-37090471-A-G c.2066A>G p.Q689R Missense 18/19 - 4
3-37090472-G-C c.2067G>C p.Q689H UnclassifiedSNV 18/19 - 1
3-37090477-TATCTG-T c.2074_2078del p.S692Gfs*10 Frameshift 18/19 - 1
3-37090479-T-C c.2074T>C p.S692P Missense 18/19 - 1
3-37090480-C-T c.2075C>T p.S692F Missense 18/19 - 1
3-37090481-CTG-C c.2076_2077del p.E693Gfs*10 Frameshift 18/19 - 1
3-37090483-GAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGAC-G c.2078_2103+33del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 18/19 18/18 1
3-37090485-GA-TC c.2080_2081inv p.E694S Missense 18/19 - 1
3-37090485-G-T c.2080G>T p.E694* Nonsense 18/19 - 7
3-37090486-A-C c.2081A>C p.E694A Missense 18/19 - 4
3-37090488-T-C c.2083T>C p.S695P Missense 18/19 - 1
3-37090491-AC-A c.2089del p.L697Sfs*86 Frameshift 18/19 - 1
3-37090496-C-T c.2091C>T p.L697L UnclassifiedSNV 18/19 - 1
3-37090493-CCT-C c.2092_2093del p.S698Rfs*5 Frameshift 18/19 - 4
3-37090498-C-G c.2093C>G p.S698* Nonsense 18/19 - 1
3-37090501-G-A c.2096G>A p.G699D UnclassifiedSNV 18/19 - 1
3-37090503-C-T c.2098C>T p.Q700* Nonsense 18/19 - 1
3-37090506-C-A c.2101C>A p.Q701K Missense 18/19 - 12
3-37090506-C-T c.2101C>T p.Q701* Nonsense 18/19 - 3
3-37090508-G-A c.2103G>A p.Q701= Synonymous 18/19 - 1
3-37090508-G-C c.2103G>C p.Q701H Missense 18/19 - 3
3-37090509-G-A c.2103+1G>A - IntronicSNV - 18/18 3
3-37090509-G-C c.2103+1G>C - IntronicSNV - 18/18 1
3-37090509-G-T c.2103+1G>T - IntronicSNV - 18/18 2
3-37091975-A-G c.2104-2A>G - IntronicSNV - 18/18 1
3-37091975-A-T c.2104-2A>T - IntronicSNV - 18/18 1
3-37091979-T-G c.2106T>G p.S702R Missense 19/19 - 1
3-37091983-G-C c.2110G>C p.V704L Missense 19/19 - 2
3-37091983-G-T c.2110G>T p.V704L Missense 19/19 - 1
3-37091985-GC-G c.2114del p.P705Lfs*78 Frameshift 19/19 - 2
3-37091987-C-A c.2114C>A p.P705H Missense 19/19 - 1
3-37091987-C-T c.2114C>T p.P705L Missense 19/19 - 1
3-37091990-GGCTCCATTCCAAAC-G c.2117_2130del p.G706Vfs*12 Frameshift 19/19 - 1
3-37091992-T-A c.2119T>A p.S707T Missense 19/19 - 1
3-37091993-C-T c.2120C>T p.S707F Missense 19/19 - 1
3-37092001-A-G c.2128A>G p.N710D Missense 19/19 - 1
3-37092008-G-A c.2135G>A p.W712* Nonsense 19/19 - 2
3-37092008-G-C c.2135G>C p.W712S Missense 19/19 - 1
3-37092008-G-T c.2135G>T p.W712L Missense 19/19 - 3
3-37092009-G-A c.2136G>A p.W712* Nonsense 19/19 - 3
3-37092013-TG-AC c.2140_2141delinsAC p.W714T Missense 19/19 - 1
3-37092014-G-A c.2141G>A p.W714* Nonsense 19/19 - 6
3-37092015-G-A c.2142G>A p.W714* Nonsense 19/19 - 2
3-37092018-T-G c.2145T>G p.T715= Synonymous 19/19 - 1
3-37092019-G-A c.2146G>A p.V716M Missense 19/19 - 28
3-37092019-G-T c.2146G>T p.V716L Missense 19/19 - 3
3-37092020-TG-T c.2149del p.E717Nfs*66 Frameshift 19/19 - 1
3-37092022-G-A c.2149G>A p.E717K Missense 19/19 - 2
3-37092025-CA-TG c.2152_2153inv p.H718C Missense 19/19 - 1
3-37092025-C-T c.2152C>T p.H718Y Missense 19/19 - 13
3-37092025-C-CA c.2153dup p.H718Qfs*5 Frameshift 19/19 - 1
3-37092026-A-C c.2153A>C p.H718P Missense 19/19 - 2
3-37092027-C-CAACA c.2155_2156insACAA p.I719Nfs*5 Frameshift 19/19 - 1
3-37092028-A-AT c.2157dup p.V720Cfs*3 Frameshift 19/19 - 1
3-37092032-T-G c.2159T>G p.V720G Missense 19/19 - 1
3-37092034-T-C c.2161T>C p.Y721H Missense 19/19 - 3
3-37092035-A-G c.2162A>G p.Y721C Missense 19/19 - 1
3-37092041-C-A c.2168C>A p.A723D Missense 19/19 - 2
3-37092043-T-A c.2170T>A p.L724M Missense 19/19 - 2
3-37092043-T-C c.2170T>C p.L724= Synonymous 19/19 - 2
3-37092045-G-A c.2172G>A p.L724= Synonymous 19/19 - 1
3-37092044-T-G c.2171T>G p.L724W Missense 19/19 - 1
3-37092046-CGC-TGG c.2173_2175delinsTGG p.R725W Missense 19/19 - 1
3-37092046-C-T c.2173C>T p.R725C Missense 19/19 - 3
3-37092047-G-A c.2174G>A p.R725H Missense 19/19 - 6
3-37092049-TCACA-T c.2179_2182del p.H727Ffs*55 Frameshift 19/19 - 1
3-37092052-C-A c.2179C>A p.H727N Missense 19/19 - 1
3-37092053-A-T c.2180A>T p.H727L Missense 19/19 - 1
3-37092049-TCA-T c.2181_2182del p.I728Sfs*4 Frameshift 19/19 - 3
3-37092055-ATT-G c.2182_2184delinsG p.I728Afs*4 Frameshift 19/19 - 1
3-37092058-C-G c.2185C>G p.L729V Missense 19/19 - 2
3-37092060-G-A c.2187G>A p.L729= Synonymous 19/19 - 1
3-37092063-CT-C c.2190del p.P731Lfs*52 Frameshift 19/19 - 1
3-37092065-C-G c.2192C>G p.P731R Missense 19/19 - 1
3-37092067-A-G c.2194A>G p.K732E Missense 19/19 - 1
3-37092067-A-T c.2194A>T p.K732* Nonsense 19/19 - 2
3-37092066-TA-T c.2196del p.K732Nfs*51 Frameshift 19/19 - 1
3-37092070-C-T c.2197C>T p.H733Y Missense 19/19 - 1
3-37092079-G-T c.2206G>T p.E736* Nonsense 19/19 - 1
3-37092083-A-T c.2210A>T p.D737V Missense 19/19 - 2
3-37092085-G-A c.2212G>A p.G738R Missense 19/19 - 1
3-37092085-G-C c.2212G>C p.G738R Missense 19/19 - 1
3-37092086-G-A c.2213G>A p.G738E Missense 19/19 - 3
3-37092096-TGCAGCTTGC-T c.2223_2231del p.Q742_A744del InFrameDeletion 19/19 - 1
3-37092097-C-T c.2224C>T p.Q742* Nonsense 19/19 - 2
3-37092097-GC-G c.2224del p.Q742Sfs*41 Frameshift 19/19 - 1
3-37092101-T-C c.2228T>C p.L743P Missense 19/19 - 1
3-37092109-CCTGCCTGATCTA-C c.2236_2247del p.L746_L749del InFrameDeletion 19/19 - 1
3-37092110-CT-C c.2237del p.L746Rfs*37 Frameshift 19/19 - 1
3-37092110-T-TGCAGCCTGATACTATATCCTGCA c.2239_2240insAGCCTGATACTATATCCTGCAGC p.P747Qfs*44 Frameshift 19/19 - 1
3-37092115-G-A c.2242G>A p.D748N Missense 19/19 - 1
3-37092118-TCTA-T c.2245_2247del p.L749del InFrameDeletion 19/19 - 1
3-37092119-T-A c.2246T>A p.L749Q Missense 19/19 - 4
3-37092119-T-C c.2246T>C p.L749P Missense 19/19 - 8
3-37092121-T-C c.2248T>C p.Y750H Missense 19/19 - 1
3-37092123-C-A c.2250C>A p.Y750* Nonsense 19/19 - 1
3-37092123-C-G c.2250C>G p.Y750* Nonsense 19/19 - 3
3-37092123-CAA-C c.2252_2253del p.K751Sfs*3 Frameshift 19/19 - 6
3-37092125-A-G c.2252A>G p.K751R Missense 19/19 - 3
3-37092129-C-CT c.2259dup p.E754* Nonsense 19/19 - 1
3-37092133-G-A c.2260G>A p.E754K Missense 19/19 - 1
3-37092134-A-G c.2261A>G p.E754G Missense 19/19 - 1
3-37092136-A-G c.2263A>G p.R755G Missense 19/19 - 2
3-37092136-A-T c.2263A>T p.R755W Missense 19/19 - 1
3-37092138-G-C c.2265G>C p.R755S Missense 19/19 - 2
3-37092138-G-T c.2265G>T p.R755S Missense 19/19 - 2
3-37092245-G-A c.*101G>A - 3-UTRSNV 19/19 - 1
3-37092245-G-T c.*101G>T - 3-UTRSNV 19/19 - 1