MSH2 mutS homolog 2

Annotation transcript: NM_000251.3

6210 unique variant annotations were identified in 1046 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
2-47630331-A-G c.1A>G p.M1? Missense 1/16 - 7
2-47630331-A-C c.1A>C p.M1? Missense 1/16 - 7
2-47630331-A-T c.1A>T p.M1? Missense 1/16 - 5
2-47630331-CATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGT-C c.1_59del p.M1_?20 Multi:SpliceDonorDeletion,CdsStartDeletion 1/16 - 2
2-47630332-T-G c.2T>G p.M1? Missense 1/16 - 1
2-47630334-G-A c.4G>A p.A2T Missense 1/16 - 7
2-47630334-G-C c.4G>C p.A2P Missense 1/16 - 1
2-47630334-G-T c.4G>T p.A2S Missense 1/16 - 1
2-47630335-C-T c.5C>T p.A2V Missense 1/16 - 2
2-47630335-C-A c.5C>A p.A2E Missense 1/16 - 2
2-47630335-C-G c.5C>G p.A2G Missense 1/16 - 1
2-47630336-G-T c.6G>T p.A2= Synonymous 1/16 - 1
2-47630337-G-A c.7G>A p.V3M Missense 1/16 - 1
2-47630337-G-C c.7G>C p.V3L Missense 1/16 - 1
2-47630337-G-T c.7G>T p.V3L Missense 1/16 - 1
2-47630338-T-C c.8T>C p.V3A Missense 1/16 - 1
2-47630338-T-G c.8T>G p.V3G Missense 1/16 - 1
2-47630340-C-T c.10C>T p.Q4* Nonsense 1/16 - 1
2-47630340-C-A c.10C>A p.Q4K Missense 1/16 - 1
2-47630341-A-C c.11A>C p.Q4P Missense 1/16 - 1
2-47630341-A-G c.11A>G p.Q4R Missense 1/16 - 1
2-47630341-A-T c.11A>T p.Q4L Missense 1/16 - 1
2-47630342-G-C c.12G>C p.Q4H Missense 1/16 - 1
2-47630342-G-T c.12G>T p.Q4H Missense 1/16 - 1
2-47630343-C-A c.13C>A p.P5T Missense 1/16 - 1
2-47630343-C-G c.13C>G p.P5A Missense 1/16 - 1
2-47630343-C-T c.13C>T p.P5S Missense 1/16 - 1
2-47630344-C-A c.14C>A p.P5Q Missense 1/16 - 13
2-47630344-C-T c.14C>T p.P5L Missense 1/16 - 2
2-47630344-C-G c.14C>G p.P5R Missense 1/16 - 1
2-47630344-CG-AT c.14_15delinsAT p.P5H Missense 1/16 - 1
2-47630342-GC-G c.14del p.P5Rfs*59 Frameshift 1/16 - 1
2-47630345-G-T c.15G>T p.P5= Synonymous 1/16 - 1
2-47630345-G-A c.15G>A p.P5= Synonymous 1/16 - 1
2-47630345-G-C c.15G>C p.P5= Synonymous 1/16 - 1
2-47630346-A-C c.16A>C p.K6Q Missense 1/16 - 1
2-47630346-A-G c.16A>G p.K6E Missense 1/16 - 1
2-47630347-A-C c.17A>C p.K6T Missense 1/16 - 1
2-47630347-A-G c.17A>G p.K6R Missense 1/16 - 1
2-47630347-A-T c.17A>T p.K6M Missense 1/16 - 1
2-47630348-G-A c.18G>A p.K6= Synonymous 1/16 - 1
2-47630348-G-C c.18G>C p.K6N Missense 1/16 - 1
2-47630348-G-T c.18G>T p.K6N Missense 1/16 - 1
2-47630349-G-A c.19G>A p.E7K Missense 1/16 - 1
2-47630349-G-C c.19G>C p.E7Q Missense 1/16 - 1
2-47630350-GA-G c.20del p.E7Gfs*57 Frameshift 1/16 - 1
2-47630350-A-C c.20A>C p.E7A Missense 1/16 - 1
2-47630350-A-G c.20A>G p.E7G Missense 1/16 - 1
2-47630350-A-T c.20A>T p.E7V Missense 1/16 - 1
2-47630351-G-C c.21G>C p.E7D Missense 1/16 - 1
2-47630351-G-T c.21G>T p.E7D Missense 1/16 - 1
2-47630352-A-T c.22A>T p.T8S Missense 1/16 - 3
2-47630352-A-C c.22A>C p.T8P Missense 1/16 - 1
2-47630352-A-G c.22A>G p.T8A Missense 1/16 - 1
2-47630353-C-T c.23C>T p.T8M Missense 1/16 - 14
2-47630353-C-G c.23C>G p.T8R Missense 1/16 - 3
2-47630353-C-A c.23C>A p.T8K Missense 1/16 - 1
2-47630355-C-A c.25C>A p.L9M Missense 1/16 - 1
2-47630355-C-G c.25C>G p.L9V Missense 1/16 - 1
2-47630356-T-A c.26T>A p.L9Q Missense 1/16 - 1
2-47630356-T-C c.26T>C p.L9P Missense 1/16 - 1
2-47630356-T-G c.26T>G p.L9R Missense 1/16 - 1
2-47630358-C-T c.28C>T p.Q10* Nonsense 1/16 - 2
2-47630358-C-A c.28C>A p.Q10K Missense 1/16 - 1
2-47630358-C-G c.28C>G p.Q10E Missense 1/16 - 1
2-47630359-A-C c.29A>C p.Q10P Missense 1/16 - 1
2-47630359-A-G c.29A>G p.Q10R Missense 1/16 - 1
2-47630359-A-T c.29A>T p.Q10L Missense 1/16 - 1
2-47630360-G-C c.30G>C p.Q10H Missense 1/16 - 1
2-47630360-G-T c.30G>T p.Q10H Missense 1/16 - 1
2-47630361-T-A c.31T>A p.L11M Missense 1/16 - 1
2-47630361-T-G c.31T>G p.L11V Missense 1/16 - 1
2-47630362-T-C c.32T>C p.L11S Missense 1/16 - 1
2-47630362-T-G c.32T>G p.L11W Missense 1/16 - 1
2-47630363-G-C c.33G>C p.L11F Missense 1/16 - 1
2-47630363-G-T c.33G>T p.L11F Missense 1/16 - 1
2-47630364-G-A c.34G>A p.E12K Missense 1/16 - 2
2-47630364-G-C c.34G>C p.E12Q Missense 1/16 - 1
2-47630362-T-TG c.34dup p.E12Gfs*70 Frameshift 1/16 - 1
2-47630364-GAG-TTT c.34_36delinsTTT p.E12F Missense 1/16 - 1
2-47630364-GA-AG c.34_35delinsAG p.E12R Missense 1/16 - 1
2-47630365-A-C c.35A>C p.E12A Missense 1/16 - 1
2-47630365-A-G c.35A>G p.E12G Missense 1/16 - 1
2-47630365-A-T c.35A>T p.E12V Missense 1/16 - 1
2-47630366-G-C c.36G>C p.E12D Missense 1/16 - 2
2-47630366-G-T c.36G>T p.E12D Missense 1/16 - 2
2-47630367-AG-GC c.37_38delinsGC p.S13A Missense 1/16 - 5
2-47630367-A-T c.37A>T p.S13C Missense 1/16 - 5
2-47630367-AG-GA c.37_38delinsGA p.S13D Missense 1/16 - 2
2-47630367-A-C c.37A>C p.S13R Missense 1/16 - 1
2-47630367-A-G c.37A>G p.S13G Missense 1/16 - 1
2-47630368-G-A c.38G>A p.S13N Missense 1/16 - 1
2-47630368-G-C c.38G>C p.S13T Missense 1/16 - 1
2-47630368-G-T c.38G>T p.S13I Missense 1/16 - 1
2-47630369-C-A c.39C>A p.S13R Missense 1/16 - 1
2-47630369-C-G c.39C>G p.S13R Missense 1/16 - 1
2-47630370-G-A c.40G>A p.A14T Missense 1/16 - 2
2-47630370-G-C c.40G>C p.A14P Missense 1/16 - 1
2-47630370-G-T c.40G>T p.A14S Missense 1/16 - 1
2-47630371-C-A c.41C>A p.A14E Missense 1/16 - 1
2-47630371-C-G c.41C>G p.A14G Missense 1/16 - 1
2-47630371-C-T c.41C>T p.A14V Missense 1/16 - 1
2-47630373-G-T c.43G>T p.A15S Missense 1/16 - 2
2-47630373-G-A c.43G>A p.A15T Missense 1/16 - 1
2-47630373-G-C c.43G>C p.A15P Missense 1/16 - 1
2-47630373-GC-CG c.43_44delinsCG p.A15R Missense 1/16 - 1
2-47630374-C-A c.44C>A p.A15D Missense 1/16 - 2
2-47630374-C-G c.44C>G p.A15G Missense 1/16 - 1
2-47630374-C-T c.44C>T p.A15V Missense 1/16 - 1
2-47630376-G-A c.46G>A p.E16K Missense 1/16 - 1
2-47630376-G-C c.46G>C p.E16Q Missense 1/16 - 1
2-47630377-A-C c.47A>C p.E16A Missense 1/16 - 1
2-47630377-A-G c.47A>G p.E16G Missense 1/16 - 1
2-47630377-A-T c.47A>T p.E16V Missense 1/16 - 1
2-47630379-G-A c.49G>A p.V17I Missense 1/16 - 3
2-47630379-G-C c.49G>C p.V17L Missense 1/16 - 1
2-47630379-G-T c.49G>T p.V17F Missense 1/16 - 2
2-47630380-T-A c.50T>A p.V17D Missense 1/16 - 1
2-47630380-T-C c.50T>C p.V17A Missense 1/16 - 1
2-47630380-T-G c.50T>G p.V17G Missense 1/16 - 1
2-47630382-G-A c.52G>A p.G18S Missense 1/16 - 2
2-47630382-G-C c.52G>C p.G18R Missense 1/16 - 1
2-47630382-G-T c.52G>T p.G18C Missense 1/16 - 1
2-47630383-G-A c.53G>A p.G18D Missense 1/16 - 1
2-47630383-G-C c.53G>C p.G18A Missense 1/16 - 1
2-47630383-G-T c.53G>T p.G18V Missense 1/16 - 1
2-47630385-T-A c.55T>A p.F19I Missense 1/16 - 1
2-47630385-T-C c.55T>C p.F19L Missense 1/16 - 3
2-47630385-T-G c.55T>G p.F19V Missense 1/16 - 1
2-47630386-T-G c.56T>G p.F19C Missense 1/16 - 2
2-47630386-T-A c.56T>A p.F19Y Missense 1/16 - 1
2-47630386-T-C c.56T>C p.F19S Missense 1/16 - 1
2-47630387-C-A c.57C>A p.F19L Missense 1/16 - 2
2-47630387-C-G c.57C>G p.F19L Missense 1/16 - 2
2-47630388-G-A c.58G>A p.V20M Missense 1/16 - 2
2-47630388-G-C c.58G>C p.V20L Missense 1/16 - 1
2-47630388-G-T c.58G>T p.V20L Missense 1/16 - 1
2-47630389-T-A c.59T>A p.V20E Missense 1/16 - 1
2-47630389-T-C c.59T>C p.V20A Missense 1/16 - 1
2-47630389-T-G c.59T>G p.V20G Missense 1/16 - 1
2-47630391-C-A c.61C>A p.R21S Missense 1/16 - 1
2-47630391-C-G c.61C>G p.R21G Missense 1/16 - 1
2-47630391-C-T c.61C>T p.R21C Missense 1/16 - 1
2-47630392-G-A c.62G>A p.R21H Missense 1/16 - 1
2-47630392-G-C c.62G>C p.R21P Missense 1/16 - 1
2-47630392-G-T c.62G>T p.R21L Missense 1/16 - 1
2-47630394-TT-GA c.64_65delinsGA p.F22D Missense 1/16 - 1
2-47630394-T-C c.64T>C p.F22L Missense 1/16 - 2
2-47630394-T-A c.64T>A p.F22I Missense 1/16 - 1
2-47630394-T-G c.64T>G p.F22V Missense 1/16 - 1
2-47630395-T-A c.65T>A p.F22Y Missense 1/16 - 1
2-47630395-T-C c.65T>C p.F22S Missense 1/16 - 1
2-47630395-T-G c.65T>G p.F22C Missense 1/16 - 1
2-47630396-C-A c.66C>A p.F22L Missense 1/16 - 1
2-47630396-C-G c.66C>G p.F22L Missense 1/16 - 1
2-47630397-T-C c.67T>C p.F23L Missense 1/16 - 2
2-47630399-T-A c.69T>A p.F23L Missense 1/16 - 2
2-47630399-T-G c.69T>G p.F23L Missense 1/16 - 2
2-47630397-T-G c.67T>G p.F23V Missense 1/16 - 2
2-47630397-T-A c.67T>A p.F23I Missense 1/16 - 1
2-47630398-T-C c.68T>C p.F23S Missense 1/16 - 3
2-47630398-T-A c.68T>A p.F23Y Missense 1/16 - 1
2-47630398-T-G c.68T>G p.F23C Missense 1/16 - 1
2-47630400-C-A c.70C>A p.Q24K Missense 1/16 - 1
2-47630400-C-G c.70C>G p.Q24E Missense 1/16 - 1
2-47630400-C-T c.70C>T p.Q24* Nonsense 1/16 - 1
2-47630401-A-C c.71A>C p.Q24P Missense 1/16 - 1
2-47630401-A-G c.71A>G p.Q24R Missense 1/16 - 1
2-47630401-A-T c.71A>T p.Q24L Missense 1/16 - 1
2-47630401-CA-C c.71del p.Q24Rfs*40 Frameshift 1/16 - 2
2-47630402-G-C c.72G>C p.Q24H Missense 1/16 - 1
2-47630402-G-T c.72G>T p.Q24H Missense 1/16 - 1
2-47630403-G-A c.73G>A p.G25S Missense 1/16 - 1
2-47630403-G-C c.73G>C p.G25R Missense 1/16 - 1
2-47630403-G-T c.73G>T p.G25C Missense 1/16 - 2
2-47630404-G-A c.74G>A p.G25D Missense 1/16 - 4
2-47630404-G-C c.74G>C p.G25A Missense 1/16 - 1
2-47630404-G-T c.74G>T p.G25V Missense 1/16 - 1
2-47630406-A-C c.76A>C p.M26L Missense 1/16 - 2
2-47630406-A-T c.76A>T p.M26L Missense 1/16 - 2
2-47630406-A-G c.76A>G p.M26V Missense 1/16 - 1
2-47630406-CATG-C c.76_78del p.M26del InFrameDeletion 1/16 - 1
2-47630407-T-A c.77T>A p.M26K Missense 1/16 - 1
2-47630407-T-C c.77T>C p.M26T Missense 1/16 - 1
2-47630407-T-G c.77T>G p.M26R Missense 1/16 - 1
2-47630409-C-G c.79C>G p.P27A Missense 1/16 - 2
2-47630409-C-A c.79C>A p.P27T Missense 1/16 - 1
2-47630409-C-T c.79C>T p.P27S Missense 1/16 - 1
2-47630410-C-T c.80C>T p.P27L Missense 1/16 - 4
2-47630410-C-A c.80C>A p.P27Q Missense 1/16 - 1
2-47630410-C-G c.80C>G p.P27R Missense 1/16 - 2
2-47630412-G-C c.82G>C p.E28Q Missense 1/16 - 1
2-47630410-CG-C c.82del p.E28Rfs*36 Frameshift 1/16 - 1
2-47630413-A-C c.83A>C p.E28A Missense 1/16 - 1
2-47630413-A-G c.83A>G p.E28G Missense 1/16 - 1
2-47630413-A-T c.83A>T p.E28V Missense 1/16 - 1
2-47630414-G-C c.84G>C p.E28D Missense 1/16 - 1
2-47630414-G-T c.84G>T p.E28D Missense 1/16 - 1
2-47630415-A-T c.85A>T p.K29* Nonsense 1/16 - 1
2-47630415-A-C c.85A>C p.K29Q Missense 1/16 - 1
2-47630415-A-G c.85A>G p.K29E Missense 1/16 - 1
2-47630416-A-G c.86A>G p.K29R Missense 1/16 - 2
2-47630416-A-C c.86A>C p.K29T Missense 1/16 - 1
2-47630416-A-T c.86A>T p.K29M Missense 1/16 - 1
2-47630417-G-C c.87G>C p.K29N Missense 1/16 - 1
2-47630417-G-T c.87G>T p.K29N Missense 1/16 - 1
2-47630418-C-T c.88C>T p.P30S Missense 1/16 - 2
2-47630418-C-A c.88C>A p.P30T Missense 1/16 - 1
2-47630418-C-G c.88C>G p.P30A Missense 1/16 - 1
2-47630419-C-G c.89C>G p.P30R Missense 1/16 - 1
2-47630419-C-T c.89C>T p.P30L Missense 1/16 - 1
2-47630421-A-C c.91A>C p.T31P Missense 1/16 - 1
2-47630421-A-G c.91A>G p.T31A Missense 1/16 - 1
2-47630421-A-T c.91A>T p.T31S Missense 1/16 - 1
2-47630422-C-T c.92C>T p.T31I Missense 1/16 - 2
2-47630422-C-A c.92C>A p.T31N Missense 1/16 - 2
2-47630422-C-G c.92C>G p.T31S Missense 1/16 - 1
2-47630423-C-T c.93C>T p.T31= Synonymous 1/16 - 1
2-47630424-A-C c.94A>C p.T32P Missense 1/16 - 1
2-47630424-A-G c.94A>G p.T32A Missense 1/16 - 1
2-47630425-C-G c.95C>G p.T32S Missense 1/16 - 2
2-47630424-A-T c.94A>T p.T32S Missense 1/16 - 2
2-47630425-C-A c.95C>A p.T32N Missense 1/16 - 1
2-47630425-C-T c.95C>T p.T32I Missense 1/16 - 1
2-47630424-A-AC c.96dup p.T33Hfs*49 Frameshift 1/16 - 1
2-47630427-A-C c.97A>C p.T33P Missense 1/16 - 6
2-47630427-A-G c.97A>G p.T33A Missense 1/16 - 1
2-47630427-A-T c.97A>T p.T33S Missense 1/16 - 1
2-47630428-C-A c.98C>A p.T33K Missense 1/16 - 1
2-47630428-C-G c.98C>G p.T33R Missense 1/16 - 1
2-47630428-C-T c.98C>T p.T33I Missense 1/16 - 1
2-47630430-G-A c.100G>A p.V34M Missense 1/16 - 2
2-47630430-GTG-ATC c.100_102delinsATC p.V34I Missense 1/16 - 1
2-47630430-G-C c.100G>C p.V34L Missense 1/16 - 1
2-47630430-G-T c.100G>T p.V34L Missense 1/16 - 1
2-47630431-T-A c.101T>A p.V34E Missense 1/16 - 3
2-47630431-T-C c.101T>C p.V34A Missense 1/16 - 2
2-47630431-T-G c.101T>G p.V34G Missense 1/16 - 1
2-47630433-C-G c.103C>G p.R35G Missense 1/16 - 3
2-47630433-C-A c.103C>A p.R35S Missense 1/16 - 1
2-47630433-C-T c.103C>T p.R35C Missense 1/16 - 1
2-47630434-G-C c.104G>C p.R35P Missense 1/16 - 1
2-47630434-G-T c.104G>T p.R35L Missense 1/16 - 1
2-47630435-C-A c.105C>A p.R35= Synonymous 1/16 - 1
2-47630436-CT-GG c.106_107delinsGG p.L36G Missense 1/16 - 1
2-47630436-C-A c.106C>A p.L36I Missense 1/16 - 1
2-47630436-C-G c.106C>G p.L36V Missense 1/16 - 1
2-47630436-C-T c.106C>T p.L36F Missense 1/16 - 1
2-47630437-T-A c.107T>A p.L36H Missense 1/16 - 1
2-47630437-T-C c.107T>C p.L36P Missense 1/16 - 1
2-47630437-T-G c.107T>G p.L36R Missense 1/16 - 1
2-47630439-T-C c.109T>C p.F37L Missense 1/16 - 2
2-47630441-C-A c.111C>A p.F37L Missense 1/16 - 2
2-47630439-T-A c.109T>A p.F37I Missense 1/16 - 1
2-47630439-T-G c.109T>G p.F37V Missense 1/16 - 1
2-47630436-CT-C c.110del p.F37Sfs*27 Frameshift 1/16 - 3
2-47630440-T-A c.110T>A p.F37Y Missense 1/16 - 1
2-47630440-T-C c.110T>C p.F37S Missense 1/16 - 1
2-47630440-T-G c.110T>G p.F37C Missense 1/16 - 1
2-47630441-C-G c.111C>G p.F37L Missense 1/16 - 3
2-47630442-G-A c.112G>A p.D38N Missense 1/16 - 1
2-47630442-G-C c.112G>C p.D38H Missense 1/16 - 1
2-47630442-G-T c.112G>T p.D38Y Missense 1/16 - 1
2-47630440-TCGA-T c.112_114del p.D38del InFrameDeletion 1/16 - 1
2-47630443-A-C c.113A>C p.D38A Missense 1/16 - 2
2-47630443-A-G c.113A>G p.D38G Missense 1/16 - 1
2-47630443-A-T c.113A>T p.D38V Missense 1/16 - 1
2-47630444-C-A c.114C>A p.D38E Missense 1/16 - 1
2-47630444-C-G c.114C>G p.D38E Missense 1/16 - 1
2-47630445-CGG-AGC c.115_117delinsAGC p.R39S Missense 1/16 - 1
2-47630445-C-G c.115C>G p.R39G Missense 1/16 - 1
2-47630445-CG-GA c.115_116delinsGA p.R39E Missense 1/16 - 1
2-47630446-G-T c.116G>T p.R39L Missense 1/16 - 2
2-47630446-G-A c.116G>A p.R39Q Missense 1/16 - 1
2-47630446-G-C c.116G>C p.R39P Missense 1/16 - 1
2-47630448-G-A c.118G>A p.G40S Missense 1/16 - 8
2-47630448-G-C c.118G>C p.G40R Missense 1/16 - 1
2-47630448-G-T c.118G>T p.G40C Missense 1/16 - 1
2-47630449-G-A c.119G>A p.G40D Missense 1/16 - 1
2-47630449-G-C c.119G>C p.G40A Missense 1/16 - 2
2-47630449-G-T c.119G>T p.G40V Missense 1/16 - 1
2-47630445-CG-C c.119del p.G40Afs*24 Frameshift 1/16 - 2
2-47630450-C-T c.120C>T p.G40= Synonymous 1/16 - 1
2-47630451-G-C c.121G>C p.D41H Missense 1/16 - 2
2-47630451-G-A c.121G>A p.D41N Missense 1/16 - 1
2-47630451-G-T c.121G>T p.D41Y Missense 1/16 - 1
2-47630452-A-C c.122A>C p.D41A Missense 1/16 - 1
2-47630452-A-G c.122A>G p.D41G Missense 1/16 - 2
2-47630452-A-T c.122A>T p.D41V Missense 1/16 - 1
2-47630453-C-A c.123C>A p.D41E Missense 1/16 - 1
2-47630453-C-G c.123C>G p.D41E Missense 1/16 - 1
2-47630454-T-A c.124T>A p.F42I Missense 1/16 - 1
2-47630454-T-C c.124T>C p.F42L Missense 1/16 - 2
2-47630454-T-G c.124T>G p.F42V Missense 1/16 - 1
2-47630455-T-A c.125T>A p.F42Y Missense 1/16 - 1
2-47630455-T-C c.125T>C p.F42S Missense 1/16 - 1
2-47630455-T-G c.125T>G p.F42C Missense 1/16 - 1
2-47630456-C-A c.126C>A p.F42L Missense 1/16 - 2
2-47630456-C-G c.126C>G p.F42L Missense 1/16 - 2
2-47630457-T-A c.127T>A p.Y43N Missense 1/16 - 1
2-47630457-T-C c.127T>C p.Y43H Missense 1/16 - 1
2-47630457-T-G c.127T>G p.Y43D Missense 1/16 - 1
2-47630458-A-G c.128A>G p.Y43C Missense 1/16 - 5
2-47630458-A-T c.128A>T p.Y43F Missense 1/16 - 2
2-47630458-A-C c.128A>C p.Y43S Missense 1/16 - 1
2-47630459-T-A c.129T>A p.Y43* Nonsense 1/16 - 1
2-47630459-T-G c.129T>G p.Y43* Nonsense 1/16 - 1
2-47630460-A-C c.130A>C p.T44P Missense 1/16 - 1
2-47630460-A-G c.130A>G p.T44A Missense 1/16 - 1
2-47630460-A-T c.130A>T p.T44S Missense 1/16 - 1
2-47630461-C-A c.131C>A p.T44K Missense 1/16 - 2
2-47630461-C-T c.131C>T p.T44M Missense 1/16 - 4
2-47630461-C-G c.131C>G p.T44R Missense 1/16 - 1
2-47630463-G-A c.133G>A p.A45T Missense 1/16 - 1
2-47630463-G-C c.133G>C p.A45P Missense 1/16 - 1
2-47630463-G-T c.133G>T p.A45S Missense 1/16 - 1
2-47630461-C-CG c.133dup p.A45Gfs*37 Frameshift 1/16 - 1
2-47630464-C-T c.134C>T p.A45V Missense 1/16 - 3
2-47630464-C-G c.134C>G p.A45G Missense 1/16 - 2
2-47630464-C-A c.134C>A p.A45E Missense 1/16 - 1
2-47630466-C-A c.136C>A p.H46N Missense 1/16 - 1
2-47630466-C-G c.136C>G p.H46D Missense 1/16 - 1
2-47630466-C-T c.136C>T p.H46Y Missense 1/16 - 1
2-47630463-GCGCACGGCGAGGACGCGCTGCTGGCCGCC-G c.136_164del p.H46Gfs*26 Frameshift 1/16 - 2
2-47630467-A-C c.137A>C p.H46P Missense 1/16 - 1
2-47630467-A-G c.137A>G p.H46R Missense 1/16 - 1
2-47630467-A-T c.137A>T p.H46L Missense 1/16 - 1
2-47630468-C-G c.138C>G p.H46Q Missense 1/16 - 8
2-47630468-C-A c.138C>A p.H46Q Missense 1/16 - 2
2-47630468-C-T c.138C>T p.H46= Synonymous 1/16 - 2
2-47630469-G-A c.139G>A p.G47S Missense 1/16 - 1
2-47630469-G-C c.139G>C p.G47R Missense 1/16 - 1
2-47630469-G-T c.139G>T p.G47C Missense 1/16 - 1
2-47630470-G-C c.140G>C p.G47A Missense 1/16 - 1
2-47630470-G-T c.140G>T p.G47V Missense 1/16 - 1
2-47630472-G-A c.142G>A p.E48K Missense 1/16 - 3
2-47630472-G-T c.142G>T p.E48* Nonsense 1/16 - 5
2-47630472-G-C c.142G>C p.E48Q Missense 1/16 - 1
2-47630473-A-C c.143A>C p.E48A Missense 1/16 - 2
2-47630473-A-G c.143A>G p.E48G Missense 1/16 - 1
2-47630473-A-T c.143A>T p.E48V Missense 1/16 - 1
2-47630474-G-C c.144G>C p.E48D Missense 1/16 - 1
2-47630474-G-T c.144G>T p.E48D Missense 1/16 - 1
2-47630473-AGGAC-A c.145_148del p.D49Rfs*14 Frameshift 1/16 - 1
2-47630475-G-A c.145G>A p.D49N Missense 1/16 - 1
2-47630475-G-C c.145G>C p.D49H Missense 1/16 - 1
2-47630476-A-C c.146A>C p.D49A Missense 1/16 - 1
2-47630476-A-G c.146A>G p.D49G Missense 1/16 - 1
2-47630476-A-T c.146A>T p.D49V Missense 1/16 - 3
2-47630477-C-A c.147C>A p.D49E Missense 1/16 - 1
2-47630477-C-G c.147C>G p.D49E Missense 1/16 - 1
2-47630478-GCG-TGT c.148_150delinsTGT p.A50C Missense 1/16 - 1
2-47630478-G-A c.148G>A p.A50T Missense 1/16 - 1
2-47630478-G-C c.148G>C p.A50P Missense 1/16 - 1
2-47630478-G-T c.148G>T p.A50S Missense 1/16 - 1
2-47630479-C-A c.149C>A p.A50E Missense 1/16 - 1
2-47630479-C-G c.149C>G p.A50G Missense 1/16 - 1
2-47630479-C-T c.149C>T p.A50V Missense 1/16 - 1
2-47630481-C-A c.151C>A p.L51M Missense 1/16 - 1
2-47630481-C-G c.151C>G p.L51V Missense 1/16 - 1
2-47630482-T-C c.152T>C p.L51P Missense 1/16 - 2
2-47630482-T-A c.152T>A p.L51Q Missense 1/16 - 1
2-47630482-T-G c.152T>G p.L51R Missense 1/16 - 1
2-47630483-G-GTAAA c.153_154insTAAA p.L52* Nonsense 1/16 - 1
2-47630484-C-A c.154C>A p.L52M Missense 1/16 - 1
2-47630484-C-G c.154C>G p.L52V Missense 1/16 - 1
2-47630482-TGCTG-T c.155_158del p.L52Pfs*11 Frameshift 1/16 - 1
2-47630485-T-A c.155T>A p.L52Q Missense 1/16 - 1
2-47630485-T-C c.155T>C p.L52P Missense 1/16 - 1
2-47630485-T-G c.155T>G p.L52R Missense 1/16 - 1
2-47630487-G-A c.157G>A p.A53T Missense 1/16 - 2
2-47630487-G-C c.157G>C p.A53P Missense 1/16 - 1
2-47630487-G-T c.157G>T p.A53S Missense 1/16 - 1
2-47630488-C-A c.158C>A p.A53D Missense 1/16 - 1
2-47630488-C-G c.158C>G p.A53G Missense 1/16 - 1
2-47630488-C-T c.158C>T p.A53V Missense 1/16 - 1
2-47630490-GC-TG c.160_161delinsTG p.A54C Missense 1/16 - 1
2-47630490-GC-TT c.160_161delinsTT p.A54F Missense 1/16 - 2
2-47630490-G-A c.160G>A p.A54T Missense 1/16 - 1
2-47630490-G-C c.160G>C p.A54P Missense 1/16 - 1
2-47630490-G-T c.160G>T p.A54S Missense 1/16 - 1
2-47630490-GC-TA c.160_161delinsTA p.A54Y Missense 1/16 - 1
2-47630491-C-G c.161C>G p.A54G Missense 1/16 - 1
2-47630491-C-T c.161C>T p.A54V Missense 1/16 - 1
2-47630493-CGG-GAC c.163_165delinsGAC p.R55D Missense 1/16 - 1
2-47630493-C-G c.163C>G p.R55G Missense 1/16 - 3
2-47630493-C-T c.163C>T p.R55W Missense 1/16 - 1
2-47630490-GC-G c.163del p.R55Gfs*9 Frameshift 1/16 - 2
2-47630494-G-A c.164G>A p.R55Q Missense 1/16 - 1
2-47630494-G-C c.164G>C p.R55P Missense 1/16 - 1
2-47630494-G-T c.164G>T p.R55L Missense 1/16 - 1
2-47630496-G-T c.166G>T p.E56* Nonsense 1/16 - 5
2-47630496-G-A c.166G>A p.E56K Missense 1/16 - 2
2-47630496-G-C c.166G>C p.E56Q Missense 1/16 - 1
2-47630497-A-G c.167A>G p.E56G Missense 1/16 - 2
2-47630497-A-C c.167A>C p.E56A Missense 1/16 - 1
2-47630497-A-T c.167A>T p.E56V Missense 1/16 - 1
2-47630498-G-C c.168G>C p.E56D Missense 1/16 - 1
2-47630498-G-T c.168G>T p.E56D Missense 1/16 - 1
2-47630499-G-A c.169G>A p.V57M Missense 1/16 - 2
2-47630499-G-C c.169G>C p.V57L Missense 1/16 - 1
2-47630499-G-T c.169G>T p.V57L Missense 1/16 - 1
2-47630500-T-A c.170T>A p.V57E Missense 1/16 - 1
2-47630500-T-C c.170T>C p.V57A Missense 1/16 - 1
2-47630500-T-G c.170T>G p.V57G Missense 1/16 - 1
2-47630502-T-A c.172T>A p.F58I Missense 1/16 - 2
2-47630502-T-C c.172T>C p.F58L Missense 1/16 - 2
2-47630502-T-G c.172T>G p.F58V Missense 1/16 - 1
2-47630503-T-C c.173T>C p.F58S Missense 1/16 - 1
2-47630504-C-A c.174C>A p.F58L Missense 1/16 - 2
2-47630504-C-G c.174C>G p.F58L Missense 1/16 - 2
2-47630503-T-TC c.174dup p.K59Qfs*23 Frameshift 1/16 - 3
2-47630505-A-C c.175A>C p.K59Q Missense 1/16 - 1
2-47630505-A-G c.175A>G p.K59E Missense 1/16 - 1
2-47630504-C-CA c.176dup p.T60Dfs*22 Frameshift 1/16 - 1
2-47630506-A-C c.176A>C p.K59T Missense 1/16 - 1
2-47630506-A-G c.176A>G p.K59R Missense 1/16 - 1
2-47630506-A-T c.176A>T p.K59M Missense 1/16 - 1
2-47630504-CA-C c.176del p.K59Rfs*5 Frameshift 1/16 - 1
2-47630507-G-C c.177G>C p.K59N Missense 1/16 - 1
2-47630507-G-T c.177G>T p.K59N Missense 1/16 - 1
2-47630508-A-C c.178A>C p.T60P Missense 1/16 - 1
2-47630508-A-G c.178A>G p.T60A Missense 1/16 - 1
2-47630508-A-T c.178A>T p.T60S Missense 1/16 - 1
2-47630509-C-G c.179C>G p.T60S Missense 1/16 - 1
2-47630509-C-A c.179C>A p.T60N Missense 1/16 - 1
2-47630509-C-T c.179C>T p.T60I Missense 1/16 - 1
2-47630511-C-T c.181C>T p.Q61* Nonsense 1/16 - 7
2-47630511-C-A c.181C>A p.Q61K Missense 1/16 - 3
2-47630511-C-G c.181C>G p.Q61E Missense 1/16 - 1
2-47630512-A-C c.182A>C p.Q61P Missense 1/16 - 6
2-47630512-A-G c.182A>G p.Q61R Missense 1/16 - 2
2-47630512-A-T c.182A>T p.Q61L Missense 1/16 - 1
2-47630513-G-C c.183G>C p.Q61H Missense 1/16 - 1
2-47630513-G-T c.183G>T p.Q61H Missense 1/16 - 1
2-47630514-G-C c.184G>C p.G62R Missense 1/16 - 2
2-47630514-G-A c.184G>A p.G62R Missense 1/16 - 1
2-47630515-G-A c.185G>A p.G62E Missense 1/16 - 1
2-47630515-G-C c.185G>C p.G62A Missense 1/16 - 1
2-47630515-G-T c.185G>T p.G62V Missense 1/16 - 1
2-47630516-G-GTAA c.186_187insTAA p.G62_V63ins* InFrameInsertion 1/16 - 1
2-47630516-G-C c.186G>C p.G62= Synonymous 1/16 - 1
2-47630516-G-GTA c.186_187insTA p.V63* Nonsense 1/16 - 1
2-47630512-AG-A c.187del p.V63* Frameshift 1/16 - 8
2-47630517-G-A c.187G>A p.V63M Missense 1/16 - 2
2-47630517-G-C c.187G>C p.V63L Missense 1/16 - 1
2-47630517-G-T c.187G>T p.V63L Missense 1/16 - 1
2-47630517-GTG-TTT c.187_189delinsTTT p.V63F Missense 1/16 - 1
2-47630518-T-C c.188T>C p.V63A Missense 1/16 - 1
2-47630518-T-G c.188T>G p.V63G Missense 1/16 - 1
2-47630518-T-A c.188T>A p.V63E Missense 1/16 - 1
2-47630519-TG-T c.189del p.I64Sfs*20 Frameshift 1/16 - 1
2-47630520-GA-G c.190del p.I64Sfs*20 Frameshift 1/16 - 1
2-47630520-A-C c.190A>C p.I64L Missense 1/16 - 1
2-47630520-A-G c.190A>G p.I64V Missense 1/16 - 2
2-47630520-A-T c.190A>T p.I64F Missense 1/16 - 1
2-47630521-T-A c.191T>A p.I64N Missense 1/16 - 1
2-47630521-T-C c.191T>C p.I64T Missense 1/16 - 1
2-47630521-T-G c.191T>G p.I64S Missense 1/16 - 1
2-47630522-C-G c.192C>G p.I64M Missense 1/16 - 1
2-47630521-T-TC c.192dup p.K65Qfs*17 Frameshift 1/16 - 1
2-47630523-A-T c.193A>T p.K65* Nonsense 1/16 - 1
2-47630523-AA-GC c.193_194delinsGC p.K65A Missense 1/16 - 1
2-47630523-A-C c.193A>C p.K65Q Missense 1/16 - 1
2-47630523-A-G c.193A>G p.K65E Missense 1/16 - 1
2-47630524-A-C c.194A>C p.K65T Missense 1/16 - 1
2-47630524-A-G c.194A>G p.K65R Missense 1/16 - 1
2-47630524-A-T c.194A>T p.K65M Missense 1/16 - 1
2-47630526-GT-G c.196del p.Y66Tfs*18 Frameshift 1/16 - 1
2-47630526-TA-GC c.196_197delinsGC p.Y66A Missense 1/16 - 1
2-47630526-T-A c.196T>A p.Y66N Missense 1/16 - 1
2-47630526-T-C c.196T>C p.Y66H Missense 1/16 - 1
2-47630527-A-C c.197A>C p.Y66S Missense 1/16 - 1
2-47630527-A-G c.197A>G p.Y66C Missense 1/16 - 1
2-47630527-A-T c.197A>T p.Y66F Missense 1/16 - 1
2-47630528-C-T c.198C>T p.Y66= Synonymous 1/16 - 1
2-47630529-A-G c.199A>G p.M67V Missense 1/16 - 3
2-47630529-A-C c.199A>C p.M67L Missense 1/16 - 1
2-47630529-A-T c.199A>T p.M67L Missense 1/16 - 1
2-47630530-T-A c.200T>A p.M67K Missense 1/16 - 1
2-47630530-T-C c.200T>C p.M67T Missense 1/16 - 1
2-47630530-T-G c.200T>G p.M67R Missense 1/16 - 1
2-47630531-G-A c.201G>A p.M67I Missense 1/16 - 1
2-47630531-G-C c.201G>C p.M67I Missense 1/16 - 1
2-47630531-G-T c.201G>T p.M67I Missense 1/16 - 1
2-47630532-G-A c.202G>A p.G68R Missense 1/16 - 1
2-47630532-G-C c.202G>C p.G68R Missense 1/16 - 1
2-47630532-G-T c.202G>T p.G68W Missense 1/16 - 1
2-47630533-G-A c.203G>A p.G68E Missense 1/16 - 1
2-47630533-G-C c.203G>C p.G68A Missense 1/16 - 1
2-47630533-G-T c.203G>T p.G68V Missense 1/16 - 1
2-47630535-C-A c.205C>A p.P69T Missense 1/16 - 1
2-47630535-C-G c.205C>G p.P69A Missense 1/16 - 1
2-47630535-C-T c.205C>T p.P69S Missense 1/16 - 1
2-47630536-C-A c.206C>A p.P69Q Missense 1/16 - 1
2-47630536-C-G c.206C>G p.P69R Missense 1/16 - 1
2-47630536-C-T c.206C>T p.P69L Missense 1/16 - 1
2-47630538-GCA-TTT c.208_210delinsTTT p.A70F Missense 1/16 - 1
2-47630538-G-A c.208G>A p.A70T Missense 1/16 - 1
2-47630538-G-C c.208G>C p.A70P Missense 1/16 - 1
2-47630538-G-T c.208G>T p.A70S Missense 1/16 - 1
2-47630539-C-A c.209C>A p.A70E Missense 1/16 - 1
2-47630539-C-G c.209C>G p.A70G Missense 1/16 - 1
2-47630539-C-T c.209C>T p.A70V Missense 1/16 - 1
2-47630531-GGGGCCGGCAGGTGA-G c.209_211+11del - SpliceDonorDeletion 1/16 1/15 1
2-47630542-G-T c.211+1G>T - IntronicSNV - 1/15 1
2-47630542-G-C c.211+1G>C - IntronicSNV - 1/15 1
2-47630550-C-G c.211+9C>G - IntronicSNV - 1/15 15
2-47630550-C-A c.211+9C>A - IntronicSNV - 1/15 9
2-47630550-C-T c.211+9C>T - IntronicSNV - 1/15 8
2-47630639-T-C c.211+98T>C - IntronicSNV - 1/15 2
2-47631091-G-C c.211+550G>C - IntronicSNV - 1/15 1
2-47635538-A-G c.212-2A>G - IntronicSNV - 1/15 1
2-47635539-G-A c.212-1G>A - IntronicSNV - 1/15 1
2-47635542-G-A c.214G>A p.A72T Missense 2/16 - 2
2-47635542-G-C c.214G>C p.A72P Missense 2/16 - 1
2-47635542-G-T c.214G>T p.A72S Missense 2/16 - 1
2-47635543-CA-AC c.215_216delinsAC p.A72D Missense 2/16 - 1
2-47635543-C-A c.215C>A p.A72E Missense 2/16 - 1
2-47635543-C-G c.215C>G p.A72G Missense 2/16 - 1
2-47635543-C-T c.215C>T p.A72V Missense 2/16 - 2
2-47635545-A-C c.217A>C p.K73Q Missense 2/16 - 2
2-47635545-A-G c.217A>G p.K73E Missense 2/16 - 1
2-47635546-A-C c.218A>C p.K73T Missense 2/16 - 1
2-47635546-A-G c.218A>G p.K73R Missense 2/16 - 2
2-47635546-A-T c.218A>T p.K73M Missense 2/16 - 1
2-47635547-G-C c.219G>C p.K73N Missense 2/16 - 1
2-47635547-G-T c.219G>T p.K73N Missense 2/16 - 1
2-47635548-A-C c.220A>C p.N74H Missense 2/16 - 1
2-47635548-A-G c.220A>G p.N74D Missense 2/16 - 1
2-47635548-A-T c.220A>T p.N74Y Missense 2/16 - 1
2-47635549-A-C c.221A>C p.N74T Missense 2/16 - 1
2-47635549-A-G c.221A>G p.N74S Missense 2/16 - 1
2-47635549-A-T c.221A>T p.N74I Missense 2/16 - 1
2-47635550-T-A c.222T>A p.N74K Missense 2/16 - 1
2-47635550-T-G c.222T>G p.N74K Missense 2/16 - 1
2-47635551-C-G c.223C>G p.L75V Missense 2/16 - 1
2-47635551-CT-AA c.223_224delinsAA p.L75K Missense 2/16 - 1
2-47635549-ATC-A c.223_224del p.L75Afs*6 Frameshift 2/16 - 1
2-47635552-T-A c.224T>A p.L75Q Missense 2/16 - 1
2-47635552-T-C c.224T>C p.L75P Missense 2/16 - 1
2-47635552-T-G c.224T>G p.L75R Missense 2/16 - 1
2-47635554-C-T c.226C>T p.Q76* Nonsense 2/16 - 5
2-47635554-C-A c.226C>A p.Q76K Missense 2/16 - 1
2-47635555-A-C c.227A>C p.Q76P Missense 2/16 - 1
2-47635555-A-G c.227A>G p.Q76R Missense 2/16 - 1
2-47635555-A-T c.227A>T p.Q76L Missense 2/16 - 1
2-47635556-G-C c.228G>C p.Q76H Missense 2/16 - 2
2-47635556-G-T c.228G>T p.Q76H Missense 2/16 - 2
2-47635554-CAG-C c.229_230del p.S77Cfs*4 Frameshift 2/16 - 6
2-47635557-A-C c.229A>C p.S77R Missense 2/16 - 1
2-47635557-A-G c.229A>G p.S77G Missense 2/16 - 1
2-47635557-A-T c.229A>T p.S77C Missense 2/16 - 1
2-47635558-G-A c.230G>A p.S77N Missense 2/16 - 1
2-47635558-G-C c.230G>C p.S77T Missense 2/16 - 1
2-47635558-G-T c.230G>T p.S77I Missense 2/16 - 1
2-47635559-T-A c.231T>A p.S77R Missense 2/16 - 1
2-47635559-T-G c.231T>G p.S77R Missense 2/16 - 1
2-47635560-G-A c.232G>A p.V78I Missense 2/16 - 5
2-47635560-G-C c.232G>C p.V78L Missense 2/16 - 1
2-47635561-T-C c.233T>C p.V78A Missense 2/16 - 2
2-47635561-T-A c.233T>A p.V78D Missense 2/16 - 1
2-47635561-T-G c.233T>G p.V78G Missense 2/16 - 1
2-47635563-G-A c.235G>A p.V79M Missense 2/16 - 3
2-47635563-G-C c.235G>C p.V79L Missense 2/16 - 1
2-47635563-G-T c.235G>T p.V79L Missense 2/16 - 1
2-47635562-T-TG c.235dup p.V79Gfs*3 Frameshift 2/16 - 1
2-47635564-T-A c.236T>A p.V79E Missense 2/16 - 1
2-47635564-T-C c.236T>C p.V79A Missense 2/16 - 1
2-47635564-T-G c.236T>G p.V79G Missense 2/16 - 1
2-47635566-C-A c.238C>A p.L80I Missense 2/16 - 1
2-47635566-C-G c.238C>G p.L80V Missense 2/16 - 1
2-47635566-C-T c.238C>T p.L80F Missense 2/16 - 1
2-47635567-T-C c.239T>C p.L80P Missense 2/16 - 1
2-47635567-T-G c.239T>G p.L80R Missense 2/16 - 1
2-47635569-A-C c.241A>C p.S81R Missense 2/16 - 1
2-47635569-A-G c.241A>G p.S81G Missense 2/16 - 1
2-47635569-A-T c.241A>T p.S81C Missense 2/16 - 2
2-47635570-G-GA c.242_243insA p.S81Rfs*2 Frameshift 2/16 - 1
2-47635570-G-A c.242G>A p.S81N Missense 2/16 - 1
2-47635570-G-C c.242G>C p.S81T Missense 2/16 - 1
2-47635570-G-T c.242G>T p.S81I Missense 2/16 - 1
2-47635571-T-A c.243T>A p.S81R Missense 2/16 - 1
2-47635571-T-G c.243T>G p.S81R Missense 2/16 - 1
2-47635572-A-T c.244A>T p.K82* Nonsense 2/16 - 2
2-47635572-A-C c.244A>C p.K82Q Missense 2/16 - 1
2-47635572-A-G c.244A>G p.K82E Missense 2/16 - 1
2-47635573-A-C c.245A>C p.K82T Missense 2/16 - 1
2-47635573-A-G c.245A>G p.K82R Missense 2/16 - 1
2-47635573-A-T c.245A>T p.K82I Missense 2/16 - 1
2-47635574-A-C c.246A>C p.K82N Missense 2/16 - 1
2-47635574-A-T c.246A>T p.K82N Missense 2/16 - 1
2-47635575-A-C c.247A>C p.M83L Missense 2/16 - 1
2-47635575-A-T c.247A>T p.M83L Missense 2/16 - 1
2-47635575-A-G c.247A>G p.M83V Missense 2/16 - 1
2-47635576-T-A c.248T>A p.M83K Missense 2/16 - 1
2-47635576-T-C c.248T>C p.M83T Missense 2/16 - 1
2-47635576-T-G c.248T>G p.M83R Missense 2/16 - 1
2-47635578-A-C c.250A>C p.N84H Missense 2/16 - 1
2-47635578-A-T c.250A>T p.N84Y Missense 2/16 - 1
2-47635579-A-C c.251A>C p.N84T Missense 2/16 - 1
2-47635579-A-G c.251A>G p.N84S Missense 2/16 - 1
2-47635579-A-T c.251A>T p.N84I Missense 2/16 - 1
2-47635580-T-A c.252T>A p.N84K Missense 2/16 - 1
2-47635580-T-G c.252T>G p.N84K Missense 2/16 - 1
2-47635581-T-A c.253T>A p.F85I Missense 2/16 - 1
2-47635581-T-C c.253T>C p.F85L Missense 2/16 - 1
2-47635581-T-G c.253T>G p.F85V Missense 2/16 - 1
2-47635582-T-A c.254T>A p.F85Y Missense 2/16 - 1
2-47635582-T-C c.254T>C p.F85S Missense 2/16 - 1
2-47635582-T-G c.254T>G p.F85C Missense 2/16 - 1
2-47635583-T-C c.255T>C p.F85= Synonymous 2/16 - 1
2-47635583-T-A c.255T>A p.F85L Missense 2/16 - 1
2-47635583-T-G c.255T>G p.F85L Missense 2/16 - 1
2-47635579-A-AT c.255dup p.E86* Nonsense 2/16 - 1
2-47635584-G-C c.256G>C p.E86Q Missense 2/16 - 1
2-47635584-G-T c.256G>T p.E86* Nonsense 2/16 - 1
2-47635585-A-C c.257A>C p.E86A Missense 2/16 - 1
2-47635585-A-G c.257A>G p.E86G Missense 2/16 - 1
2-47635585-A-T c.257A>T p.E86V Missense 2/16 - 1
2-47635586-A-C c.258A>C p.E86D Missense 2/16 - 1
2-47635586-A-T c.258A>T p.E86D Missense 2/16 - 1
2-47635587-T-A c.259T>A p.S87T Missense 2/16 - 1
2-47635587-T-C c.259T>C p.S87P Missense 2/16 - 1
2-47635587-T-G c.259T>G p.S87A Missense 2/16 - 1
2-47635588-C-A c.260C>A p.S87Y Missense 2/16 - 1
2-47635588-C-G c.260C>G p.S87C Missense 2/16 - 2
2-47635588-C-T c.260C>T p.S87F Missense 2/16 - 1
2-47635590-T-A c.262T>A p.F88I Missense 2/16 - 1
2-47635590-T-C c.262T>C p.F88L Missense 2/16 - 1
2-47635590-T-G c.262T>G p.F88V Missense 2/16 - 1
2-47635591-T-A c.263T>A p.F88Y Missense 2/16 - 1
2-47635591-T-C c.263T>C p.F88S Missense 2/16 - 1
2-47635591-T-G c.263T>G p.F88C Missense 2/16 - 1
2-47635592-T-A c.264T>A p.F88L Missense 2/16 - 1
2-47635592-T-G c.264T>G p.F88L Missense 2/16 - 1
2-47635593-G-T c.265G>T p.V89L Missense 2/16 - 3
2-47635593-G-A c.265G>A p.V89I Missense 2/16 - 1
2-47635593-G-C c.265G>C p.V89L Missense 2/16 - 2
2-47635594-T-C c.266T>C p.V89A Missense 2/16 - 4
2-47635594-T-A c.266T>A p.V89E Missense 2/16 - 1
2-47635594-T-G c.266T>G p.V89G Missense 2/16 - 1
2-47635596-A-G c.268A>G p.K90E Missense 2/16 - 1
2-47635596-A-C c.268A>C p.K90Q Missense 2/16 - 1
2-47635597-A-C c.269A>C p.K90T Missense 2/16 - 1
2-47635597-A-G c.269A>G p.K90R Missense 2/16 - 1
2-47635597-A-T c.269A>T p.K90I Missense 2/16 - 1
2-47635598-A-C c.270A>C p.K90N Missense 2/16 - 1
2-47635598-A-T c.270A>T p.K90N Missense 2/16 - 1
2-47635599-G-A c.271G>A p.D91N Missense 2/16 - 1
2-47635599-G-C c.271G>C p.D91H Missense 2/16 - 1
2-47635599-G-T c.271G>T p.D91Y Missense 2/16 - 1
2-47635599-AG-A c.271del p.D91Ifs*83 Frameshift 2/16 - 1
2-47635600-A-C c.272A>C p.D91A Missense 2/16 - 1
2-47635600-A-G c.272A>G p.D91G Missense 2/16 - 1
2-47635600-A-T c.272A>T p.D91V Missense 2/16 - 1
2-47635601-T-G c.273T>G p.D91E Missense 2/16 - 1
2-47635601-T-A c.273T>A p.D91E Missense 2/16 - 1
2-47635602-C-G c.274C>G p.L92V Missense 2/16 - 6
2-47635602-C-A c.274C>A p.L92I Missense 2/16 - 1
2-47635602-C-T c.274C>T p.L92F Missense 2/16 - 1
2-47635603-T-A c.275T>A p.L92H Missense 2/16 - 1
2-47635603-T-C c.275T>C p.L92P Missense 2/16 - 1
2-47635603-T-G c.275T>G p.L92R Missense 2/16 - 1
2-47635605-C-T c.277C>T p.L93F Missense 2/16 - 5
2-47635605-C-A c.277C>A p.L93I Missense 2/16 - 1
2-47635605-C-G c.277C>G p.L93V Missense 2/16 - 1
2-47635606-T-A c.278T>A p.L93H Missense 2/16 - 1
2-47635606-T-C c.278T>C p.L93P Missense 2/16 - 2
2-47635606-T-G c.278T>G p.L93R Missense 2/16 - 1
2-47635606-CTT-C c.278_279del p.L93Pfs*6 Frameshift 2/16 - 1
2-47635600-ATCT-A c.279_281del p.L94del InFrameDeletion 2/16 - 6
2-47635608-CT-GC c.280_281delinsGC p.L94A Missense 2/16 - 1
2-47635608-C-G c.280C>G p.L94V Missense 2/16 - 2
2-47635608-C-A c.280C>A p.L94M Missense 2/16 - 1
2-47635609-T-A c.281T>A p.L94Q Missense 2/16 - 1
2-47635609-T-C c.281T>C p.L94P Missense 2/16 - 1
2-47635609-T-G c.281T>G p.L94R Missense 2/16 - 1
2-47635610-G-T c.282G>T p.L94= Synonymous 2/16 - 1
2-47635611-G-A c.283G>A p.V95I Missense 2/16 - 1
2-47635611-G-C c.283G>C p.V95L Missense 2/16 - 1
2-47635611-G-T c.283G>T p.V95F Missense 2/16 - 1
2-47635612-T-A c.284T>A p.V95D Missense 2/16 - 1
2-47635612-T-C c.284T>C p.V95A Missense 2/16 - 1
2-47635612-T-G c.284T>G p.V95G Missense 2/16 - 1
2-47635614-C-T c.286C>T p.R96C Missense 2/16 - 2
2-47635614-C-A c.286C>A p.R96S Missense 2/16 - 1
2-47635614-C-G c.286C>G p.R96G Missense 2/16 - 1
2-47635615-G-A c.287G>A p.R96H Missense 2/16 - 7
2-47635615-G-C c.287G>C p.R96P Missense 2/16 - 1
2-47635615-G-T c.287G>T p.R96L Missense 2/16 - 1
2-47635617-C-A c.289C>A p.Q97K Missense 2/16 - 1
2-47635617-C-G c.289C>G p.Q97E Missense 2/16 - 1
2-47635617-C-T c.289C>T p.Q97* Nonsense 2/16 - 2
2-47635618-A-C c.290A>C p.Q97P Missense 2/16 - 1
2-47635618-A-G c.290A>G p.Q97R Missense 2/16 - 1
2-47635618-A-T c.290A>T p.Q97L Missense 2/16 - 1
2-47635620-T-A c.292T>A p.Y98N Missense 2/16 - 1
2-47635620-T-C c.292T>C p.Y98H Missense 2/16 - 1
2-47635620-T-G c.292T>G p.Y98D Missense 2/16 - 1
2-47635621-A-G c.293A>G p.Y98C Missense 2/16 - 4
2-47635621-A-T c.293A>T p.Y98F Missense 2/16 - 1
2-47635621-A-C c.293A>C p.Y98S Missense 2/16 - 1
2-47635623-A-G c.295A>G p.R99G Missense 2/16 - 1
2-47635623-A-T c.295A>T p.R99* Nonsense 2/16 - 1
2-47635624-G-A c.296G>A p.R99K Missense 2/16 - 2
2-47635624-G-C c.296G>C p.R99T Missense 2/16 - 1
2-47635624-G-T c.296G>T p.R99I Missense 2/16 - 1
2-47635625-A-C c.297A>C p.R99S Missense 2/16 - 1
2-47635625-A-T c.297A>T p.R99S Missense 2/16 - 1
2-47635626-G-A c.298G>A p.V100I Missense 2/16 - 5
2-47635626-G-C c.298G>C p.V100L Missense 2/16 - 1
2-47635626-G-T c.298G>T p.V100F Missense 2/16 - 1
2-47635627-T-G c.299T>G p.V100G Missense 2/16 - 2
2-47635627-T-A c.299T>A p.V100D Missense 2/16 - 1
2-47635627-T-C c.299T>C p.V100A Missense 2/16 - 1
2-47635629-G-A c.301G>A p.E101K Missense 2/16 - 2
2-47635629-G-C c.301G>C p.E101Q Missense 2/16 - 3
2-47635629-G-T c.301G>T p.E101* Nonsense 2/16 - 1
2-47635630-A-C c.302A>C p.E101A Missense 2/16 - 1
2-47635630-A-G c.302A>G p.E101G Missense 2/16 - 1
2-47635630-A-T c.302A>T p.E101V Missense 2/16 - 1
2-47635631-A-C c.303A>C p.E101D Missense 2/16 - 1
2-47635631-A-T c.303A>T p.E101D Missense 2/16 - 1
2-47635632-G-A c.304G>A p.V102I Missense 2/16 - 3
2-47635632-G-C c.304G>C p.V102L Missense 2/16 - 1
2-47635632-G-T c.304G>T p.V102F Missense 2/16 - 1
2-47635633-T-A c.305T>A p.V102D Missense 2/16 - 1
2-47635633-T-C c.305T>C p.V102A Missense 2/16 - 1
2-47635633-T-G c.305T>G p.V102G Missense 2/16 - 1
2-47635635-T-A c.307T>A p.Y103N Missense 2/16 - 1
2-47635635-T-C c.307T>C p.Y103H Missense 2/16 - 1
2-47635636-A-C c.308A>C p.Y103S Missense 2/16 - 1
2-47635636-A-G c.308A>G p.Y103C Missense 2/16 - 4
2-47635636-A-T c.308A>T p.Y103F Missense 2/16 - 1
2-47635638-A-C c.310A>C p.K104Q Missense 2/16 - 1
2-47635638-A-G c.310A>G p.K104E Missense 2/16 - 1
2-47635639-A-C c.311A>C p.K104T Missense 2/16 - 1
2-47635639-A-G c.311A>G p.K104R Missense 2/16 - 1
2-47635640-G-C c.312G>C p.K104N Missense 2/16 - 1
2-47635640-G-T c.312G>T p.K104N Missense 2/16 - 1
2-47635641-A-C c.313A>C p.N105H Missense 2/16 - 1
2-47635641-A-G c.313A>G p.N105D Missense 2/16 - 1
2-47635641-A-T c.313A>T p.N105Y Missense 2/16 - 1
2-47635642-A-C c.314A>C p.N105T Missense 2/16 - 1
2-47635642-A-G c.314A>G p.N105S Missense 2/16 - 1
2-47635642-A-T c.314A>T p.N105I Missense 2/16 - 1
2-47635643-T-A c.315T>A p.N105K Missense 2/16 - 1
2-47635643-T-G c.315T>G p.N105K Missense 2/16 - 1
2-47635644-A-G c.316A>G p.R106G Missense 2/16 - 1
2-47635645-G-A c.317G>A p.R106K Missense 2/16 - 5
2-47635645-G-C c.317G>C p.R106T Missense 2/16 - 2
2-47635645-G-T c.317G>T p.R106I Missense 2/16 - 1
2-47635646-A-C c.318A>C p.R106S Missense 2/16 - 1
2-47635646-A-T c.318A>T p.R106S Missense 2/16 - 1
2-47635647-G-C c.319G>C p.A107P Missense 2/16 - 3
2-47635647-G-A c.319G>A p.A107T Missense 2/16 - 1
2-47635647-G-T c.319G>T p.A107S Missense 2/16 - 1
2-47635648-C-A c.320C>A p.A107D Missense 2/16 - 1
2-47635648-C-G c.320C>G p.A107G Missense 2/16 - 1
2-47635648-C-T c.320C>T p.A107V Missense 2/16 - 1
2-47635649-CT-C c.321del p.G108Efs*66 Frameshift 2/16 - 1
2-47635650-G-A c.322G>A p.G108R Missense 2/16 - 1
2-47635650-G-C c.322G>C p.G108R Missense 2/16 - 1
2-47635651-G-C c.323G>C p.G108A Missense 2/16 - 1
2-47635651-G-T c.323G>T p.G108V Missense 2/16 - 1
2-47635653-A-C c.325A>C p.N109H Missense 2/16 - 1
2-47635653-A-G c.325A>G p.N109D Missense 2/16 - 1
2-47635653-A-T c.325A>T p.N109Y Missense 2/16 - 1
2-47635654-A-C c.326A>C p.N109T Missense 2/16 - 1
2-47635654-A-G c.326A>G p.N109S Missense 2/16 - 1
2-47635654-A-T c.326A>T p.N109I Missense 2/16 - 1
2-47635655-T-A c.327T>A p.N109K Missense 2/16 - 1
2-47635655-T-G c.327T>G p.N109K Missense 2/16 - 1
2-47635656-A-C c.328A>C p.K110Q Missense 2/16 - 2
2-47635656-A-G c.328A>G p.K110E Missense 2/16 - 1
2-47635657-A-C c.329A>C p.K110T Missense 2/16 - 3
2-47635657-A-G c.329A>G p.K110R Missense 2/16 - 2
2-47635657-A-T c.329A>T p.K110M Missense 2/16 - 1
2-47635658-G-C c.330G>C p.K110N Missense 2/16 - 1
2-47635658-G-T c.330G>T p.K110N Missense 2/16 - 1
2-47635659-G-A c.331G>A p.A111T Missense 2/16 - 1
2-47635659-G-C c.331G>C p.A111P Missense 2/16 - 1
2-47635659-G-T c.331G>T p.A111S Missense 2/16 - 1
2-47635660-C-T c.332C>T p.A111V Missense 2/16 - 2
2-47635660-C-A c.332C>A p.A111E Missense 2/16 - 1
2-47635660-C-G c.332C>G p.A111G Missense 2/16 - 1
2-47635662-T-A c.334T>A p.S112T Missense 2/16 - 1
2-47635662-T-C c.334T>C p.S112P Missense 2/16 - 1
2-47635662-T-G c.334T>G p.S112A Missense 2/16 - 1
2-47635663-C-G c.335C>G p.S112C Missense 2/16 - 2
2-47635663-C-A c.335C>A p.S112Y Missense 2/16 - 1
2-47635663-C-T c.335C>T p.S112F Missense 2/16 - 1
2-47635665-A-C c.337A>C p.K113Q Missense 2/16 - 1
2-47635666-A-C c.338A>C p.K113T Missense 2/16 - 1
2-47635666-A-G c.338A>G p.K113R Missense 2/16 - 1
2-47635666-A-T c.338A>T p.K113M Missense 2/16 - 1
2-47635667-G-C c.339G>C p.K113N Missense 2/16 - 1
2-47635667-G-T c.339G>T p.K113N Missense 2/16 - 1
2-47635667-G-A c.339G>A p.K113= Synonymous 2/16 - 3
2-47635666-AG-A c.340del p.E114Rfs*60 Frameshift 2/16 - 2
2-47635668-G-A c.340G>A p.E114K Missense 2/16 - 1
2-47635668-G-C c.340G>C p.E114Q Missense 2/16 - 1
2-47635669-A-C c.341A>C p.E114A Missense 2/16 - 1
2-47635669-A-G c.341A>G p.E114G Missense 2/16 - 1
2-47635669-A-T c.341A>T p.E114V Missense 2/16 - 1
2-47635670-G-C c.342G>C p.E114D Missense 2/16 - 1
2-47635670-G-T c.342G>T p.E114D Missense 2/16 - 1
2-47635671-A-C c.343A>C p.N115H Missense 2/16 - 1
2-47635671-A-G c.343A>G p.N115D Missense 2/16 - 1
2-47635671-A-T c.343A>T p.N115Y Missense 2/16 - 1
2-47635672-A-C c.344A>C p.N115T Missense 2/16 - 1
2-47635672-A-G c.344A>G p.N115S Missense 2/16 - 1
2-47635672-A-T c.344A>T p.N115I Missense 2/16 - 1
2-47635670-GA-G c.344del p.N115Mfs*59 Frameshift 2/16 - 1
2-47635673-T-A c.345T>A p.N115K Missense 2/16 - 1
2-47635673-T-G c.345T>G p.N115K Missense 2/16 - 1
2-47635674-G-A c.346G>A p.D116N Missense 2/16 - 1
2-47635674-G-C c.346G>C p.D116H Missense 2/16 - 1
2-47635674-G-T c.346G>T p.D116Y Missense 2/16 - 1
2-47635675-A-C c.347A>C p.D116A Missense 2/16 - 1
2-47635675-A-G c.347A>G p.D116G Missense 2/16 - 1
2-47635675-A-T c.347A>T p.D116V Missense 2/16 - 1
2-47635672-ATGAT-A c.347_350del p.D116Gfs*57 Frameshift 2/16 - 1
2-47635676-T-A c.348T>A p.D116E Missense 2/16 - 2
2-47635676-T-G c.348T>G p.D116E Missense 2/16 - 1
2-47635677-T-A c.349T>A p.W117R Missense 2/16 - 1
2-47635677-T-C c.349T>C p.W117R Missense 2/16 - 1
2-47635677-T-G c.349T>G p.W117G Missense 2/16 - 1
2-47635678-G-C c.350G>C p.W117S Missense 2/16 - 1
2-47635678-G-T c.350G>T p.W117L Missense 2/16 - 1
2-47635679-G-GT c.352dup p.Y118Lfs*5 Frameshift 2/16 - 1
2-47635680-T-A c.352T>A p.Y118N Missense 2/16 - 1
2-47635680-T-C c.352T>C p.Y118H Missense 2/16 - 1
2-47635680-T-G c.352T>G p.Y118D Missense 2/16 - 1
2-47635681-A-C c.353A>C p.Y118S Missense 2/16 - 1
2-47635681-A-G c.353A>G p.Y118C Missense 2/16 - 1
2-47635681-A-T c.353A>T p.Y118F Missense 2/16 - 1
2-47635683-T-A c.355T>A p.L119M Missense 2/16 - 1
2-47635683-T-G c.355T>G p.L119V Missense 2/16 - 1
2-47635684-T-C c.356T>C p.L119S Missense 2/16 - 1
2-47635684-T-G c.356T>G p.L119W Missense 2/16 - 1
2-47635685-G-C c.357G>C p.L119F Missense 2/16 - 1
2-47635685-G-T c.357G>T p.L119F Missense 2/16 - 1
2-47635686-G-T c.358G>T p.A120S Missense 2/16 - 2
2-47635686-G-A c.358G>A p.A120T Missense 2/16 - 1
2-47635686-G-C c.358G>C p.A120P Missense 2/16 - 1
2-47635687-C-A c.359C>A p.A120E Missense 2/16 - 1
2-47635687-C-G c.359C>G p.A120G Missense 2/16 - 1
2-47635687-C-T c.359C>T p.A120V Missense 2/16 - 1
2-47635689-T-A c.361T>A p.Y121N Missense 2/16 - 1
2-47635689-T-C c.361T>C p.Y121H Missense 2/16 - 1
2-47635690-A-C c.362A>C p.Y121S Missense 2/16 - 1
2-47635690-A-G c.362A>G p.Y121C Missense 2/16 - 1
2-47635690-A-T c.362A>T p.Y121F Missense 2/16 - 2
2-47635691-T-G c.363T>G p.Y121* Nonsense 2/16 - 3
2-47635692-A-C c.364A>C p.K122Q Missense 2/16 - 1
2-47635692-A-G c.364A>G p.K122E Missense 2/16 - 1
2-47635695-G-A c.366+1G>A - IntronicSNV - 2/15 4
2-47637233-G-A c.367G>A p.A123T Missense 3/16 - 2
2-47637234-GC-G c.368del p.A123Vfs*51 Frameshift 3/16 - 1
2-47637236-T-A c.370T>A p.S124T Missense 3/16 - 1
2-47637236-T-C c.370T>C p.S124P Missense 3/16 - 2
2-47637237-C-G c.371C>G p.S124C Missense 3/16 - 1
2-47637237-C-T c.371C>T p.S124F Missense 3/16 - 1
2-47637239-C-T c.373C>T p.P125S Missense 3/16 - 3
2-47637239-C-A c.373C>A p.P125T Missense 3/16 - 1
2-47637239-C-G c.373C>G p.P125A Missense 3/16 - 1
2-47637240-C-T c.374C>T p.P125L Missense 3/16 - 3
2-47637240-C-A c.374C>A p.P125H Missense 3/16 - 1
2-47637240-C-G c.374C>G p.P125R Missense 3/16 - 1
2-47637242-G-A c.376G>A p.G126S Missense 3/16 - 2
2-47637242-G-C c.376G>C p.G126R Missense 3/16 - 1
2-47637242-G-T c.376G>T p.G126C Missense 3/16 - 1
2-47637241-TG-T c.377del p.G126Afs*48 Frameshift 3/16 - 1
2-47637243-G-A c.377G>A p.G126D Missense 3/16 - 2
2-47637243-G-C c.377G>C p.G126A Missense 3/16 - 1
2-47637243-G-T c.377G>T p.G126V Missense 3/16 - 1
2-47637245-A-C c.379A>C p.N127H Missense 3/16 - 2
2-47637245-A-G c.379A>G p.N127D Missense 3/16 - 1
2-47637245-A-T c.379A>T p.N127Y Missense 3/16 - 1
2-47637246-A-G c.380A>G p.N127S Missense 3/16 - 25
2-47637246-A-C c.380A>C p.N127T Missense 3/16 - 3
2-47637246-A-T c.380A>T p.N127I Missense 3/16 - 4
2-47637247-T-C c.381T>C p.N127= Synonymous 3/16 - 1
2-47637247-T-A c.381T>A p.N127K Missense 3/16 - 1
2-47637247-T-G c.381T>G p.N127K Missense 3/16 - 1
2-47637248-C-G c.382C>G p.L128V Missense 3/16 - 4
2-47637248-TC-T c.382del p.L128Sfs*46 Frameshift 3/16 - 1
2-47637248-C-A c.382C>A p.L128I Missense 3/16 - 1
2-47637248-C-T c.382C>T p.L128F Missense 3/16 - 1
2-47637249-T-A c.383T>A p.L128H Missense 3/16 - 1
2-47637249-T-C c.383T>C p.L128P Missense 3/16 - 1
2-47637249-T-G c.383T>G p.L128R Missense 3/16 - 1
2-47637250-TC-T c.384del p.S129Lfs*45 Frameshift 3/16 - 1
2-47637250-C-CT c.385dup p.S129Ffs*4 Frameshift 3/16 - 1
2-47637251-T-C c.385T>C p.S129P Missense 3/16 - 1
2-47637251-T-A c.385T>A p.S129T Missense 3/16 - 1
2-47637251-T-G c.385T>G p.S129A Missense 3/16 - 1
2-47637252-C-A c.386C>A p.S129Y Missense 3/16 - 1
2-47637252-C-G c.386C>G p.S129C Missense 3/16 - 1
2-47637252-C-T c.386C>T p.S129F Missense 3/16 - 1
2-47637246-ATC-A c.387_388del p.Q130Vfs*2 Frameshift 3/16 - 1
2-47637254-TCA-T c.388_389del p.Q130Vfs*2 Frameshift 3/16 - 12
2-47637254-C-A c.388C>A p.Q130K Missense 3/16 - 1
2-47637254-C-G c.388C>G p.Q130E Missense 3/16 - 1
2-47637254-C-T c.388C>T p.Q130* Nonsense 3/16 - 1
2-47637254-CA-GT c.388_389delinsGT p.Q130V Missense 3/16 - 1
2-47637255-A-C c.389A>C p.Q130P Missense 3/16 - 1
2-47637255-A-G c.389A>G p.Q130R Missense 3/16 - 1
2-47637255-A-T c.389A>T p.Q130L Missense 3/16 - 1
2-47637256-G-T c.390G>T p.Q130H Missense 3/16 - 2
2-47637256-G-C c.390G>C p.Q130H Missense 3/16 - 1
2-47637257-T-G c.391T>G p.F131V Missense 3/16 - 2
2-47637257-T-A c.391T>A p.F131I Missense 3/16 - 1
2-47637257-T-C c.391T>C p.F131L Missense 3/16 - 1
2-47637258-T-A c.392T>A p.F131Y Missense 3/16 - 1
2-47637258-T-C c.392T>C p.F131S Missense 3/16 - 1
2-47637258-T-G c.392T>G p.F131C Missense 3/16 - 1
2-47637259-T-A c.393T>A p.F131L Missense 3/16 - 1
2-47637259-T-G c.393T>G p.F131L Missense 3/16 - 1
2-47637260-G-A c.394G>A p.E132K Missense 3/16 - 1
2-47637260-G-C c.394G>C p.E132Q Missense 3/16 - 1
2-47637260-G-T c.394G>T p.E132* Nonsense 3/16 - 1
2-47637261-A-C c.395A>C p.E132A Missense 3/16 - 1
2-47637261-A-G c.395A>G p.E132G Missense 3/16 - 1
2-47637261-A-T c.395A>T p.E132V Missense 3/16 - 1
2-47637262-A-C c.396A>C p.E132D Missense 3/16 - 1
2-47637262-A-T c.396A>T p.E132D Missense 3/16 - 1
2-47637263-G-A c.397G>A p.D133N Missense 3/16 - 1
2-47637263-G-C c.397G>C p.D133H Missense 3/16 - 1
2-47637263-G-T c.397G>T p.D133Y Missense 3/16 - 1
2-47637264-A-C c.398A>C p.D133A Missense 3/16 - 1
2-47637264-A-G c.398A>G p.D133G Missense 3/16 - 1
2-47637264-A-T c.398A>T p.D133V Missense 3/16 - 1
2-47637266-A-C c.400A>C p.I134L Missense 3/16 - 1
2-47637266-A-G c.400A>G p.I134V Missense 3/16 - 1
2-47637266-A-T c.400A>T p.I134F Missense 3/16 - 1
2-47637267-T-A c.401T>A p.I134N Missense 3/16 - 1
2-47637267-T-C c.401T>C p.I134T Missense 3/16 - 1
2-47637267-T-G c.401T>G p.I134S Missense 3/16 - 1
2-47637269-C-A c.403C>A p.L135I Missense 3/16 - 1
2-47637269-C-G c.403C>G p.L135V Missense 3/16 - 1
2-47637269-C-T c.403C>T p.L135F Missense 3/16 - 1
2-47637269-CT-TA c.403_404delinsTA p.L135Y Missense 3/16 - 1
2-47637270-T-A c.404T>A p.L135H Missense 3/16 - 1
2-47637270-T-C c.404T>C p.L135P Missense 3/16 - 1
2-47637270-T-G c.404T>G p.L135R Missense 3/16 - 1
2-47637272-T-A c.406T>A p.F136I Missense 3/16 - 1
2-47637272-T-C c.406T>C p.F136L Missense 3/16 - 1
2-47637272-T-G c.406T>G p.F136V Missense 3/16 - 1
2-47637273-T-A c.407T>A p.F136Y Missense 3/16 - 1
2-47637273-T-C c.407T>C p.F136S Missense 3/16 - 1
2-47637273-T-G c.407T>G p.F136C Missense 3/16 - 1
2-47637274-T-A c.408T>A p.F136L Missense 3/16 - 1
2-47637274-T-G c.408T>G p.F136L Missense 3/16 - 1
2-47637271-CT-C c.408del p.F136Lfs*38 Frameshift 3/16 - 1
2-47637275-G-C c.409G>C p.G137R Missense 3/16 - 2
2-47637275-G-A c.409G>A p.G137S Missense 3/16 - 2
2-47637275-G-T c.409G>T p.G137C Missense 3/16 - 1
2-47637276-G-A c.410G>A p.G137D Missense 3/16 - 1
2-47637276-G-C c.410G>C p.G137A Missense 3/16 - 1
2-47637276-G-T c.410G>T p.G137V Missense 3/16 - 1
2-47637277-T-G c.411T>G p.G137= Synonymous 3/16 - 1
2-47637278-A-C c.412A>C p.N138H Missense 3/16 - 1
2-47637278-A-G c.412A>G p.N138D Missense 3/16 - 1
2-47637278-A-T c.412A>T p.N138Y Missense 3/16 - 1
2-47637279-A-G c.413A>G p.N138S Missense 3/16 - 2
2-47637279-A-C c.413A>C p.N138T Missense 3/16 - 1
2-47637279-A-T c.413A>T p.N138I Missense 3/16 - 1
2-47637280-C-A c.414C>A p.N138K Missense 3/16 - 1
2-47637280-C-G c.414C>G p.N138K Missense 3/16 - 1
2-47637281-A-C c.415A>C p.N139H Missense 3/16 - 1
2-47637281-A-G c.415A>G p.N139D Missense 3/16 - 1
2-47637281-A-T c.415A>T p.N139Y Missense 3/16 - 1
2-47637280-CA-C c.416del p.N139Mfs*35 Frameshift 3/16 - 2
2-47637282-A-C c.416A>C p.N139T Missense 3/16 - 1
2-47637282-A-G c.416A>G p.N139S Missense 3/16 - 1
2-47637282-A-T c.416A>T p.N139I Missense 3/16 - 1
2-47637283-T-A c.417T>A p.N139K Missense 3/16 - 1
2-47637283-T-G c.417T>G p.N139K Missense 3/16 - 1
2-47637284-G-A c.418G>A p.D140N Missense 3/16 - 2
2-47637284-G-C c.418G>C p.D140H Missense 3/16 - 1
2-47637284-G-T c.418G>T p.D140Y Missense 3/16 - 1
2-47637285-A-G c.419A>G p.D140G Missense 3/16 - 2
2-47637285-A-C c.419A>C p.D140A Missense 3/16 - 1
2-47637285-A-T c.419A>T p.D140V Missense 3/16 - 1
2-47637286-T-A c.420T>A p.D140E Missense 3/16 - 1
2-47637286-T-G c.420T>G p.D140E Missense 3/16 - 1
2-47637285-A-AT c.420dup p.M141Yfs*11 Frameshift 3/16 - 1
2-47637287-A-G c.421A>G p.M141V Missense 3/16 - 2
2-47637287-A-C c.421A>C p.M141L Missense 3/16 - 1
2-47637287-A-T c.421A>T p.M141L Missense 3/16 - 1
2-47637288-T-A c.422T>A p.M141K Missense 3/16 - 1
2-47637288-T-C c.422T>C p.M141T Missense 3/16 - 1
2-47637288-T-G c.422T>G p.M141R Missense 3/16 - 1
2-47637289-G-A c.423G>A p.M141I Missense 3/16 - 1
2-47637289-G-C c.423G>C p.M141I Missense 3/16 - 1
2-47637289-G-T c.423G>T p.M141I Missense 3/16 - 1
2-47637290-T-A c.424T>A p.S142T Missense 3/16 - 1
2-47637290-T-C c.424T>C p.S142P Missense 3/16 - 1
2-47637290-T-G c.424T>G p.S142A Missense 3/16 - 1
2-47637291-C-G c.425C>G p.S142* Nonsense 3/16 - 2
2-47637291-C-T c.425C>T p.S142L Missense 3/16 - 2
2-47637293-G-A c.427G>A p.A143T Missense 3/16 - 1
2-47637293-G-C c.427G>C p.A143P Missense 3/16 - 1
2-47637293-G-T c.427G>T p.A143S Missense 3/16 - 1
2-47637294-C-A c.428C>A p.A143D Missense 3/16 - 1
2-47637294-C-G c.428C>G p.A143G Missense 3/16 - 1
2-47637294-C-T c.428C>T p.A143V Missense 3/16 - 1
2-47637296-T-A c.430T>A p.S144T Missense 3/16 - 1
2-47637296-T-C c.430T>C p.S144P Missense 3/16 - 1
2-47637296-T-G c.430T>G p.S144A Missense 3/16 - 1
2-47637296-TC-AT c.430_431delinsAT p.S144I Missense 3/16 - 1
2-47637297-C-A c.431C>A p.S144Y Missense 3/16 - 1
2-47637297-C-G c.431C>G p.S144C Missense 3/16 - 1
2-47637297-C-T c.431C>T p.S144F Missense 3/16 - 1
2-47637299-A-C c.433A>C p.I145L Missense 3/16 - 1
2-47637299-A-G c.433A>G p.I145V Missense 3/16 - 1
2-47637299-A-T c.433A>T p.I145F Missense 3/16 - 1
2-47637300-T-A c.434T>A p.I145N Missense 3/16 - 1
2-47637300-T-C c.434T>C p.I145T Missense 3/16 - 1
2-47637300-T-G c.434T>G p.I145S Missense 3/16 - 1
2-47637301-T-G c.435T>G p.I145M Missense 3/16 - 15
2-47637302-G-A c.436G>A p.G146S Missense 3/16 - 1
2-47637302-G-C c.436G>C p.G146R Missense 3/16 - 1
2-47637302-G-T c.436G>T p.G146C Missense 3/16 - 1
2-47637303-G-A c.437G>A p.G146D Missense 3/16 - 1
2-47637303-G-C c.437G>C p.G146A Missense 3/16 - 1
2-47637303-G-T c.437G>T p.G146V Missense 3/16 - 1
2-47637305-G-A c.439G>A p.V147I Missense 3/16 - 1
2-47637305-G-C c.439G>C p.V147L Missense 3/16 - 1
2-47637305-G-T c.439G>T p.V147F Missense 3/16 - 1
2-47637306-T-C c.440T>C p.V147A Missense 3/16 - 2
2-47637306-T-A c.440T>A p.V147D Missense 3/16 - 1
2-47637306-T-G c.440T>G p.V147G Missense 3/16 - 2
2-47637308-G-A c.442G>A p.V148M Missense 3/16 - 1
2-47637308-G-C c.442G>C p.V148L Missense 3/16 - 1
2-47637308-G-T c.442G>T p.V148L Missense 3/16 - 1
2-47637309-T-A c.443T>A p.V148E Missense 3/16 - 2
2-47637309-T-C c.443T>C p.V148A Missense 3/16 - 1
2-47637309-T-G c.443T>G p.V148G Missense 3/16 - 1
2-47637311-GG-AC c.445_446delinsAC p.G149T Missense 3/16 - 1
2-47637311-G-A c.445G>A p.G149S Missense 3/16 - 1
2-47637311-G-C c.445G>C p.G149R Missense 3/16 - 1
2-47637311-G-T c.445G>T p.G149C Missense 3/16 - 1
2-47637312-G-A c.446G>A p.G149D Missense 3/16 - 1
2-47637312-G-C c.446G>C p.G149A Missense 3/16 - 1
2-47637312-G-T c.446G>T p.G149V Missense 3/16 - 1
2-47637314-G-A c.448G>A p.V150I Missense 3/16 - 1
2-47637314-G-C c.448G>C p.V150L Missense 3/16 - 1
2-47637314-G-T c.448G>T p.V150F Missense 3/16 - 1
2-47637315-T-A c.449T>A p.V150D Missense 3/16 - 1
2-47637315-T-C c.449T>C p.V150A Missense 3/16 - 1
2-47637315-T-G c.449T>G p.V150G Missense 3/16 - 1
2-47637317-A-C c.451A>C p.K151Q Missense 3/16 - 1
2-47637318-A-C c.452A>C p.K151T Missense 3/16 - 1
2-47637318-A-G c.452A>G p.K151R Missense 3/16 - 1
2-47637318-A-T c.452A>T p.K151I Missense 3/16 - 1
2-47637319-A-C c.453A>C p.K151N Missense 3/16 - 1
2-47637319-A-T c.453A>T p.K151N Missense 3/16 - 1
2-47637316-TA-T c.454del p.M152Cfs*22 Frameshift 3/16 - 1
2-47637320-A-C c.454A>C p.M152L Missense 3/16 - 1
2-47637320-A-T c.454A>T p.M152L Missense 3/16 - 1
2-47637320-A-G c.454A>G p.M152V Missense 3/16 - 1
2-47637321-T-A c.455T>A p.M152K Missense 3/16 - 1
2-47637321-T-C c.455T>C p.M152T Missense 3/16 - 1
2-47637321-T-G c.455T>G p.M152R Missense 3/16 - 1
2-47637322-G-A c.456G>A p.M152I Missense 3/16 - 1
2-47637322-G-C c.456G>C p.M152I Missense 3/16 - 1
2-47637322-G-T c.456G>T p.M152I Missense 3/16 - 1
2-47637323-T-A c.457T>A p.S153T Missense 3/16 - 1
2-47637323-T-C c.457T>C p.S153P Missense 3/16 - 1
2-47637323-T-G c.457T>G p.S153A Missense 3/16 - 1
2-47637324-C-A c.458C>A p.S153Y Missense 3/16 - 1
2-47637324-C-G c.458C>G p.S153C Missense 3/16 - 2
2-47637324-C-T c.458C>T p.S153F Missense 3/16 - 1
2-47637326-G-A c.460G>A p.A154T Missense 3/16 - 1
2-47637326-G-C c.460G>C p.A154P Missense 3/16 - 1
2-47637326-G-T c.460G>T p.A154S Missense 3/16 - 1
2-47637327-C-A c.461C>A p.A154E Missense 3/16 - 1
2-47637327-C-G c.461C>G p.A154G Missense 3/16 - 1
2-47637327-C-T c.461C>T p.A154V Missense 3/16 - 1
2-47637329-G-A c.463G>A p.V155I Missense 3/16 - 1
2-47637329-G-C c.463G>C p.V155L Missense 3/16 - 1
2-47637329-G-T c.463G>T p.V155F Missense 3/16 - 1
2-47637330-T-A c.464T>A p.V155D Missense 3/16 - 1
2-47637330-T-C c.464T>C p.V155A Missense 3/16 - 1
2-47637330-T-G c.464T>G p.V155G Missense 3/16 - 1
2-47637332-G-A c.466G>A p.D156N Missense 3/16 - 1
2-47637332-G-C c.466G>C p.D156H Missense 3/16 - 1
2-47637332-G-T c.466G>T p.D156Y Missense 3/16 - 1
2-47637333-A-C c.467A>C p.D156A Missense 3/16 - 1
2-47637333-A-G c.467A>G p.D156G Missense 3/16 - 1
2-47637333-A-T c.467A>T p.D156V Missense 3/16 - 1
2-47637334-T-A c.468T>A p.D156E Missense 3/16 - 1
2-47637334-T-G c.468T>G p.D156E Missense 3/16 - 1
2-47637335-G-A c.469G>A p.G157S Missense 3/16 - 1
2-47637335-G-C c.469G>C p.G157R Missense 3/16 - 1
2-47637335-G-T c.469G>T p.G157C Missense 3/16 - 1
2-47637336-G-A c.470G>A p.G157D Missense 3/16 - 1
2-47637336-G-C c.470G>C p.G157A Missense 3/16 - 1
2-47637336-G-T c.470G>T p.G157V Missense 3/16 - 1
2-47637337-C-A c.471C>A p.G157= Synonymous 3/16 - 2
2-47637337-C-T c.471C>T p.G157= Synonymous 3/16 - 2
2-47637338-C-A c.472C>A p.Q158K Missense 3/16 - 1
2-47637338-C-G c.472C>G p.Q158E Missense 3/16 - 1
2-47637339-A-C c.473A>C p.Q158P Missense 3/16 - 1
2-47637339-A-G c.473A>G p.Q158R Missense 3/16 - 1
2-47637339-A-T c.473A>T p.Q158L Missense 3/16 - 1
2-47637340-G-C c.474G>C p.Q158H Missense 3/16 - 1
2-47637340-G-T c.474G>T p.Q158H Missense 3/16 - 1
2-47637341-A-G c.475A>G p.R159G Missense 3/16 - 1
2-47637340-G-GA c.475dup p.R159Kfs*19 Frameshift 3/16 - 1
2-47637342-G-A c.476G>A p.R159K Missense 3/16 - 1
2-47637342-G-C c.476G>C p.R159T Missense 3/16 - 1
2-47637342-G-T c.476G>T p.R159I Missense 3/16 - 1
2-47637343-A-C c.477A>C p.R159S Missense 3/16 - 1
2-47637343-A-T c.477A>T p.R159S Missense 3/16 - 1
2-47637344-C-T c.478C>T p.Q160* Nonsense 3/16 - 1
2-47637344-C-G c.478C>G p.Q160E Missense 3/16 - 1
2-47637345-A-C c.479A>C p.Q160P Missense 3/16 - 1
2-47637345-A-G c.479A>G p.Q160R Missense 3/16 - 1
2-47637345-A-T c.479A>T p.Q160L Missense 3/16 - 1
2-47637346-G-T c.480G>T p.Q160H Missense 3/16 - 2
2-47637346-G-C c.480G>C p.Q160H Missense 3/16 - 1
2-47637347-G-T c.481G>T p.V161F Missense 3/16 - 2
2-47637347-G-A c.481G>A p.V161I Missense 3/16 - 1
2-47637347-G-C c.481G>C p.V161L Missense 3/16 - 1
2-47637348-T-A c.482T>A p.V161D Missense 3/16 - 6
2-47637348-T-C c.482T>C p.V161A Missense 3/16 - 1
2-47637348-T-G c.482T>G p.V161G Missense 3/16 - 1
2-47637350-G-A c.484G>A p.G162R Missense 3/16 - 9
2-47637350-G-C c.484G>C p.G162R Missense 3/16 - 1
2-47637351-G-C c.485G>C p.G162A Missense 3/16 - 3
2-47637351-G-A c.485G>A p.G162E Missense 3/16 - 1
2-47637351-G-T c.485G>T p.G162V Missense 3/16 - 1
2-47637353-G-A c.487G>A p.V163I Missense 3/16 - 2
2-47637353-G-C c.487G>C p.V163L Missense 3/16 - 2
2-47637353-G-T c.487G>T p.V163F Missense 3/16 - 1
2-47637354-T-A c.488T>A p.V163D Missense 3/16 - 6
2-47637354-T-G c.488T>G p.V163G Missense 3/16 - 4
2-47637354-T-C c.488T>C p.V163A Missense 3/16 - 1
2-47637356-G-A c.490G>A p.G164R Missense 3/16 - 6
2-47637356-G-C c.490G>C p.G164R Missense 3/16 - 3
2-47637356-TGGGTATGTGGATTCCATAC-T c.490_508del p.G164Rfs*4 Frameshift 3/16 - 1
2-47637357-G-A c.491G>A p.G164E Missense 3/16 - 3
2-47637357-G-C c.491G>C p.G164A Missense 3/16 - 1
2-47637357-G-T c.491G>T p.G164V Missense 3/16 - 1
2-47637354-TTGGGTA-T c.491_496del p.G164_Y165del InFrameDeletion 3/16 - 1
2-47637359-T-G c.493T>G p.Y165D Missense 3/16 - 6
2-47637359-T-C c.493T>C p.Y165H Missense 3/16 - 1
2-47637359-TA-GT c.493_494delinsGT p.Y165V Missense 3/16 - 1
2-47637360-A-G c.494A>G p.Y165C Missense 3/16 - 49
2-47637360-A-C c.494A>C p.Y165S Missense 3/16 - 1
2-47637360-A-T c.494A>T p.Y165F Missense 3/16 - 1
2-47637361-T-A c.495T>A p.Y165* Nonsense 3/16 - 2
2-47637361-T-G c.495T>G p.Y165* Nonsense 3/16 - 1
2-47637362-G-A c.496G>A p.V166M Missense 3/16 - 1
2-47637362-G-C c.496G>C p.V166L Missense 3/16 - 1
2-47637362-G-T c.496G>T p.V166L Missense 3/16 - 1
2-47637363-T-C c.497T>C p.V166A Missense 3/16 - 1
2-47637363-T-G c.497T>G p.V166G Missense 3/16 - 1
2-47637365-G-C c.499G>C p.D167H Missense 3/16 - 12
2-47637365-G-A c.499G>A p.D167N Missense 3/16 - 1
2-47637365-G-T c.499G>T p.D167Y Missense 3/16 - 1
2-47637366-A-C c.500A>C p.D167A Missense 3/16 - 1
2-47637366-A-G c.500A>G p.D167G Missense 3/16 - 1
2-47637366-A-T c.500A>T p.D167V Missense 3/16 - 1
2-47637368-T-A c.502T>A p.S168T Missense 3/16 - 1
2-47637368-T-C c.502T>C p.S168P Missense 3/16 - 1
2-47637368-T-G c.502T>G p.S168A Missense 3/16 - 1
2-47637369-C-A c.503C>A p.S168Y Missense 3/16 - 1
2-47637369-C-G c.503C>G p.S168C Missense 3/16 - 1
2-47637369-C-T c.503C>T p.S168F Missense 3/16 - 1
2-47637371-A-G c.505A>G p.I169V Missense 3/16 - 14
2-47637371-A-C c.505A>C p.I169L Missense 3/16 - 1
2-47637371-A-T c.505A>T p.I169L Missense 3/16 - 1
2-47637372-T-C c.506T>C p.I169T Missense 3/16 - 1
2-47637372-T-G c.506T>G p.I169R Missense 3/16 - 1
2-47637373-A-G c.507A>G p.I169M Missense 3/16 - 1
2-47637374-C-T c.508C>T p.Q170* Nonsense 3/16 - 5
2-47637374-C-G c.508C>G p.Q170E Missense 3/16 - 2
2-47637374-C-A c.508C>A p.Q170K Missense 3/16 - 1
2-47637375-CA-C c.509del p.Q170Rfs*4 Frameshift 3/16 - 1
2-47637375-A-C c.509A>C p.Q170P Missense 3/16 - 1
2-47637375-A-G c.509A>G p.Q170R Missense 3/16 - 1
2-47637375-A-T c.509A>T p.Q170L Missense 3/16 - 1
2-47637376-G-C c.510G>C p.Q170H Missense 3/16 - 1
2-47637376-G-T c.510G>T p.Q170H Missense 3/16 - 1
2-47637377-A-G c.511A>G p.R171G Missense 3/16 - 1
2-47637377-A-T c.511A>T p.R171W Missense 3/16 - 1
2-47637378-G-A c.512G>A p.R171K Missense 3/16 - 3
2-47637378-G-C c.512G>C p.R171T Missense 3/16 - 1
2-47637378-G-T c.512G>T p.R171M Missense 3/16 - 1
2-47637379-G-C c.513G>C p.R171S Missense 3/16 - 1
2-47637379-G-T c.513G>T p.R171S Missense 3/16 - 1
2-47637377-AG-A c.513del p.K172Nfs*2 Frameshift 3/16 - 1
2-47637380-A-G c.514A>G p.K172E Missense 3/16 - 1
2-47637381-A-C c.515A>C p.K172T Missense 3/16 - 1
2-47637381-A-G c.515A>G p.K172R Missense 3/16 - 1
2-47637381-A-T c.515A>T p.K172I Missense 3/16 - 1
2-47637382-A-C c.516A>C p.K172N Missense 3/16 - 1
2-47637382-A-T c.516A>T p.K172N Missense 3/16 - 1
2-47637383-C-A c.517C>A p.L173I Missense 3/16 - 1
2-47637383-C-G c.517C>G p.L173V Missense 3/16 - 1
2-47637384-T-C c.518T>C p.L173P Missense 3/16 - 6
2-47637384-T-G c.518T>G p.L173R Missense 3/16 - 9
2-47637384-T-A c.518T>A p.L173Q Missense 3/16 - 1
2-47637386-G-A c.520G>A p.G174R Missense 3/16 - 1
2-47637386-G-C c.520G>C p.G174R Missense 3/16 - 1
2-47637387-G-A c.521G>A p.G174E Missense 3/16 - 1
2-47637387-G-C c.521G>C p.G174A Missense 3/16 - 1
2-47637387-G-T c.521G>T p.G174V Missense 3/16 - 1
2-47637389-C-A c.523C>A p.L175M Missense 3/16 - 1
2-47637389-C-G c.523C>G p.L175V Missense 3/16 - 1
2-47637390-T-A c.524T>A p.L175Q Missense 3/16 - 1
2-47637390-T-C c.524T>C p.L175P Missense 3/16 - 2
2-47637390-T-G c.524T>G p.L175R Missense 3/16 - 1
2-47637389-C-T c.523C>T p.L175= Synonymous 3/16 - 1
2-47637391-G-T c.525G>T p.L175= Synonymous 3/16 - 1
2-47637391-G-A c.525G>A p.L175= Synonymous 3/16 - 1
2-47637391-G-C c.525G>C p.L175= Synonymous 3/16 - 1
2-47637392-T-A c.526T>A p.C176S Missense 3/16 - 1
2-47637392-T-C c.526T>C p.C176R Missense 3/16 - 1
2-47637392-T-G c.526T>G p.C176G Missense 3/16 - 1
2-47637393-G-T c.527G>T p.C176F Missense 3/16 - 2
2-47637393-G-C c.527G>C p.C176S Missense 3/16 - 1
2-47637393-G-A c.527G>A p.C176Y Missense 3/16 - 1
2-47637389-CTG-C c.528_529del p.C176* Frameshift 3/16 - 3
2-47637394-T-G c.528T>G p.C176W Missense 3/16 - 1
2-47637395-G-A c.529G>A p.E177K Missense 3/16 - 3
2-47637395-G-C c.529G>C p.E177Q Missense 3/16 - 1
2-47637396-GAA-G c.530_531del p.E177Vfs*3 Frameshift 3/16 - 3
2-47637396-A-C c.530A>C p.E177A Missense 3/16 - 1
2-47637396-A-G c.530A>G p.E177G Missense 3/16 - 1
2-47637396-A-T c.530A>T p.E177V Missense 3/16 - 1
2-47637397-A-C c.531A>C p.E177D Missense 3/16 - 1
2-47637397-A-T c.531A>T p.E177D Missense 3/16 - 1
2-47637398-T-A c.532T>A p.F178I Missense 3/16 - 1
2-47637398-T-C c.532T>C p.F178L Missense 3/16 - 1
2-47637398-T-G c.532T>G p.F178V Missense 3/16 - 1
2-47637399-T-A c.533T>A p.F178Y Missense 3/16 - 1
2-47637399-T-C c.533T>C p.F178S Missense 3/16 - 1
2-47637399-T-G c.533T>G p.F178C Missense 3/16 - 1
2-47637400-C-A c.534C>A p.F178L Missense 3/16 - 1
2-47637400-C-G c.534C>G p.F178L Missense 3/16 - 1
2-47637401-C-A c.535C>A p.P179T Missense 3/16 - 1
2-47637401-C-G c.535C>G p.P179A Missense 3/16 - 1
2-47637401-C-T c.535C>T p.P179S Missense 3/16 - 2
2-47637402-C-A c.536C>A p.P179H Missense 3/16 - 1
2-47637402-C-G c.536C>G p.P179R Missense 3/16 - 1
2-47637402-C-T c.536C>T p.P179L Missense 3/16 - 1
2-47637404-G-T c.538G>T p.D180Y Missense 3/16 - 1
2-47637405-A-T c.539A>T p.D180V Missense 3/16 - 2
2-47637405-A-C c.539A>C p.D180A Missense 3/16 - 1
2-47637405-A-G c.539A>G p.D180G Missense 3/16 - 1
2-47637406-T-A c.540T>A p.D180E Missense 3/16 - 1
2-47637406-T-G c.540T>G p.D180E Missense 3/16 - 1
2-47637407-A-C c.541A>C p.N181H Missense 3/16 - 1
2-47637407-A-G c.541A>G p.N181D Missense 3/16 - 1
2-47637407-A-T c.541A>T p.N181Y Missense 3/16 - 1
2-47637408-A-C c.542A>C p.N181T Missense 3/16 - 1
2-47637408-A-G c.542A>G p.N181S Missense 3/16 - 1
2-47637408-A-T c.542A>T p.N181I Missense 3/16 - 1
2-47637410-G-T c.544G>T p.D182Y Missense 3/16 - 1
2-47637411-A-C c.545A>C p.D182A Missense 3/16 - 1
2-47637411-A-G c.545A>G p.D182G Missense 3/16 - 1
2-47637411-A-T c.545A>T p.D182V Missense 3/16 - 1
2-47637411-GATCAGTTC-G c.545_552del p.D182Vfs*4 Frameshift 3/16 - 1
2-47637412-T-A c.546T>A p.D182E Missense 3/16 - 1
2-47637412-T-G c.546T>G p.D182E Missense 3/16 - 1
2-47637413-C-A c.547C>A p.Q183K Missense 3/16 - 1
2-47637413-C-G c.547C>G p.Q183E Missense 3/16 - 1
2-47637413-C-T c.547C>T p.Q183* Nonsense 3/16 - 1
2-47637414-A-C c.548A>C p.Q183P Missense 3/16 - 1
2-47637414-A-G c.548A>G p.Q183R Missense 3/16 - 1
2-47637414-A-T c.548A>T p.Q183L Missense 3/16 - 1
2-47637415-G-C c.549G>C p.Q183H Missense 3/16 - 1
2-47637415-G-T c.549G>T p.Q183H Missense 3/16 - 1
2-47637416-T-A c.550T>A p.F184I Missense 3/16 - 1
2-47637416-T-C c.550T>C p.F184L Missense 3/16 - 1
2-47637416-T-G c.550T>G p.F184V Missense 3/16 - 1
2-47637415-GT-G c.551del p.F184Sfs*30 Frameshift 3/16 - 1
2-47637417-T-A c.551T>A p.F184Y Missense 3/16 - 1
2-47637417-T-C c.551T>C p.F184S Missense 3/16 - 1
2-47637417-T-G c.551T>G p.F184C Missense 3/16 - 1
2-47637418-C-A c.552C>A p.F184L Missense 3/16 - 1
2-47637418-C-G c.552C>G p.F184L Missense 3/16 - 1
2-47637419-T-A c.553T>A p.S185T Missense 3/16 - 1
2-47637419-T-C c.553T>C p.S185P Missense 3/16 - 1
2-47637419-T-G c.553T>G p.S185A Missense 3/16 - 1
2-47637420-C-A c.554C>A p.S185Y Missense 3/16 - 1
2-47637420-C-G c.554C>G p.S185C Missense 3/16 - 1
2-47637420-C-T c.554C>T p.S185F Missense 3/16 - 1
2-47637422-A-C c.556A>C p.N186H Missense 3/16 - 1
2-47637422-A-G c.556A>G p.N186D Missense 3/16 - 1
2-47637422-A-T c.556A>T p.N186Y Missense 3/16 - 1
2-47637423-A-G c.557A>G p.N186S Missense 3/16 - 5
2-47637423-A-C c.557A>C p.N186T Missense 3/16 - 1
2-47637423-A-T c.557A>T p.N186I Missense 3/16 - 1
2-47637424-T-A c.558T>A p.N186K Missense 3/16 - 1
2-47637424-T-G c.558T>G p.N186K Missense 3/16 - 1
2-47637425-C-A c.559C>A p.L187I Missense 3/16 - 2
2-47637425-C-G c.559C>G p.L187V Missense 3/16 - 1
2-47637425-C-T c.559C>T p.L187F Missense 3/16 - 1
2-47637426-T-C c.560T>C p.L187P Missense 3/16 - 6
2-47637426-T-G c.560T>G p.L187R Missense 3/16 - 3
2-47637426-T-A c.560T>A p.L187H Missense 3/16 - 1
2-47637428-G-A c.562G>A p.E188K Missense 3/16 - 1
2-47637428-G-C c.562G>C p.E188Q Missense 3/16 - 2
2-47637429-A-C c.563A>C p.E188A Missense 3/16 - 1
2-47637429-A-G c.563A>G p.E188G Missense 3/16 - 1
2-47637429-A-T c.563A>T p.E188V Missense 3/16 - 1
2-47637430-G-C c.564G>C p.E188D Missense 3/16 - 1
2-47637430-G-T c.564G>T p.E188D Missense 3/16 - 1
2-47637431-G-A c.565G>A p.A189T Missense 3/16 - 2
2-47637431-G-C c.565G>C p.A189P Missense 3/16 - 1
2-47637431-G-T c.565G>T p.A189S Missense 3/16 - 1
2-47637432-C-A c.566C>A p.A189D Missense 3/16 - 1
2-47637432-C-G c.566C>G p.A189G Missense 3/16 - 1
2-47637432-C-T c.566C>T p.A189V Missense 3/16 - 1
2-47637434-C-T c.568C>T p.L190F Missense 3/16 - 3
2-47637434-C-A c.568C>A p.L190I Missense 3/16 - 1
2-47637434-C-G c.568C>G p.L190V Missense 3/16 - 1
2-47637434-CT-AC c.568_569delinsAC p.L190T Missense 3/16 - 1
2-47637435-T-A c.569T>A p.L190H Missense 3/16 - 1
2-47637435-T-C c.569T>C p.L190P Missense 3/16 - 1
2-47637435-T-G c.569T>G p.L190R Missense 3/16 - 1
2-47637433-TCTC-T c.571_573del p.L191del InFrameDeletion 3/16 - 5
2-47637437-C-A c.571C>A p.L191I Missense 3/16 - 1
2-47637437-C-G c.571C>G p.L191V Missense 3/16 - 1
2-47637437-C-T c.571C>T p.L191F Missense 3/16 - 1
2-47637438-T-A c.572T>A p.L191H Missense 3/16 - 1
2-47637438-T-C c.572T>C p.L191P Missense 3/16 - 1
2-47637438-T-G c.572T>G p.L191R Missense 3/16 - 1
2-47637439-C-T c.573C>T p.L191= Synonymous 3/16 - 1
2-47637440-A-C c.574A>C p.I192L Missense 3/16 - 1
2-47637440-A-G c.574A>G p.I192V Missense 3/16 - 1
2-47637440-A-T c.574A>T p.I192F Missense 3/16 - 1
2-47637441-T-A c.575T>A p.I192N Missense 3/16 - 1
2-47637441-T-C c.575T>C p.I192T Missense 3/16 - 1
2-47637441-T-G c.575T>G p.I192S Missense 3/16 - 1
2-47637442-C-G c.576C>G p.I192M Missense 3/16 - 1
2-47637443-C-A c.577C>A p.Q193K Missense 3/16 - 1
2-47637443-C-G c.577C>G p.Q193E Missense 3/16 - 1
2-47637444-A-C c.578A>C p.Q193P Missense 3/16 - 1
2-47637444-A-G c.578A>G p.Q193R Missense 3/16 - 1
2-47637444-A-T c.578A>T p.Q193L Missense 3/16 - 1
2-47637445-G-C c.579G>C p.Q193H Missense 3/16 - 1
2-47637445-G-T c.579G>T p.Q193H Missense 3/16 - 1
2-47637446-A-C c.580A>C p.I194L Missense 3/16 - 1
2-47637446-A-G c.580A>G p.I194V Missense 3/16 - 1
2-47637446-A-T c.580A>T p.I194F Missense 3/16 - 1
2-47637447-T-A c.581T>A p.I194N Missense 3/16 - 1
2-47637447-T-C c.581T>C p.I194T Missense 3/16 - 2
2-47637447-T-G c.581T>G p.I194S Missense 3/16 - 1
2-47637448-T-G c.582T>G p.I194M Missense 3/16 - 1
2-47637449-G-A c.583G>A p.G195R Missense 3/16 - 2
2-47637449-G-C c.583G>C p.G195R Missense 3/16 - 1
2-47637450-G-C c.584G>C p.G195A Missense 3/16 - 2
2-47637450-G-A c.584G>A p.G195E Missense 3/16 - 1
2-47637450-G-T c.584G>T p.G195V Missense 3/16 - 1
2-47637452-C-A c.586C>A p.P196T Missense 3/16 - 1
2-47637452-C-G c.586C>G p.P196A Missense 3/16 - 1
2-47637452-C-T c.586C>T p.P196S Missense 3/16 - 1
2-47637453-C-A c.587C>A p.P196Q Missense 3/16 - 3
2-47637453-C-T c.587C>T p.P196L Missense 3/16 - 2
2-47637453-C-G c.587C>G p.P196R Missense 3/16 - 1
2-47637455-A-G c.589A>G p.K197E Missense 3/16 - 1
2-47637456-A-C c.590A>C p.K197T Missense 3/16 - 1
2-47637456-A-G c.590A>G p.K197R Missense 3/16 - 1
2-47637456-A-T c.590A>T p.K197M Missense 3/16 - 1
2-47637457-G-C c.591G>C p.K197N Missense 3/16 - 1
2-47637457-G-T c.591G>T p.K197N Missense 3/16 - 1
2-47637456-A-AG c.592dup p.E198Gfs*34 Frameshift 3/16 - 1
2-47637458-G-A c.592G>A p.E198K Missense 3/16 - 2
2-47637459-A-G c.593A>G p.E198G Missense 3/16 - 6
2-47637459-A-C c.593A>C p.E198A Missense 3/16 - 1
2-47637459-A-T c.593A>T p.E198V Missense 3/16 - 1
2-47637460-A-C c.594A>C p.E198D Missense 3/16 - 1
2-47637460-A-T c.594A>T p.E198D Missense 3/16 - 1
2-47637460-A-G c.594A>G p.E198= Synonymous 3/16 - 1
2-47637461-T-C c.595T>C p.C199R Missense 3/16 - 10
2-47637461-T-G c.595T>G p.C199G Missense 3/16 - 2
2-47637461-T-A c.595T>A p.C199S Missense 3/16 - 1
2-47637461-TG-CA c.595_596inv p.C199H Missense 3/16 - 1
2-47637462-TG-T c.596del p.C199Lfs*15 Frameshift 3/16 - 2
2-47637462-G-C c.596G>C p.C199S Missense 3/16 - 1
2-47637462-G-A c.596G>A p.C199Y Missense 3/16 - 1
2-47637463-T-G c.597T>G p.C199W Missense 3/16 - 1
2-47637464-G-A c.598G>A p.V200I Missense 3/16 - 1
2-47637464-G-C c.598G>C p.V200L Missense 3/16 - 1
2-47637464-G-T c.598G>T p.V200F Missense 3/16 - 1
2-47637465-T-A c.599T>A p.V200D Missense 3/16 - 3
2-47637465-T-C c.599T>C p.V200A Missense 3/16 - 1
2-47637465-T-G c.599T>G p.V200G Missense 3/16 - 1
2-47637467-T-A c.601T>A p.L201I Missense 3/16 - 1
2-47637467-T-G c.601T>G p.L201V Missense 3/16 - 1
2-47637464-G-GT c.602dup p.L201Ffs*31 Frameshift 3/16 - 1
2-47637468-T-C c.602T>C p.L201S Missense 3/16 - 1
2-47637469-A-T c.603A>T p.L201F Missense 3/16 - 2
2-47637469-A-C c.603A>C p.L201F Missense 3/16 - 2
2-47637470-C-A c.604C>A p.P202T Missense 3/16 - 1
2-47637470-C-G c.604C>G p.P202A Missense 3/16 - 1
2-47637470-C-T c.604C>T p.P202S Missense 3/16 - 1
2-47637471-C-A c.605C>A p.P202H Missense 3/16 - 1
2-47637471-C-G c.605C>G p.P202R Missense 3/16 - 1
2-47637471-C-T c.605C>T p.P202L Missense 3/16 - 1
2-47637473-G-A c.607G>A p.G203R Missense 3/16 - 2
2-47637473-G-C c.607G>C p.G203R Missense 3/16 - 2
2-47637474-G-C c.608G>C p.G203A Missense 3/16 - 1
2-47637474-G-T c.608G>T p.G203V Missense 3/16 - 1
2-47637476-G-T c.610G>T p.G204* Nonsense 3/16 - 5
2-47637476-G-A c.610G>A p.G204R Missense 3/16 - 1
2-47637476-G-C c.610G>C p.G204R Missense 3/16 - 1
2-47637477-G-C c.611G>C p.G204A Missense 3/16 - 2
2-47637477-G-T c.611G>T p.G204V Missense 3/16 - 1
2-47637479-G-A c.613G>A p.E205K Missense 3/16 - 2
2-47637479-G-C c.613G>C p.E205Q Missense 3/16 - 4
2-47637479-G-T c.613G>T p.E205* Nonsense 3/16 - 2
2-47637480-A-C c.614A>C p.E205A Missense 3/16 - 1
2-47637480-A-G c.614A>G p.E205G Missense 3/16 - 1
2-47637480-A-T c.614A>T p.E205V Missense 3/16 - 1
2-47637481-G-C c.615G>C p.E205D Missense 3/16 - 1
2-47637481-G-T c.615G>T p.E205D Missense 3/16 - 1
2-47637482-A-C c.616A>C p.T206P Missense 3/16 - 1
2-47637482-A-G c.616A>G p.T206A Missense 3/16 - 1
2-47637482-A-T c.616A>T p.T206S Missense 3/16 - 1
2-47637483-C-T c.617C>T p.T206I Missense 3/16 - 2
2-47637483-C-G c.617C>G p.T206S Missense 3/16 - 1
2-47637483-C-A c.617C>A p.T206N Missense 3/16 - 1
2-47637485-G-C c.619G>C p.A207P Missense 3/16 - 2
2-47637485-G-A c.619G>A p.A207T Missense 3/16 - 1
2-47637485-G-T c.619G>T p.A207S Missense 3/16 - 2
2-47637486-C-A c.620C>A p.A207D Missense 3/16 - 1
2-47637486-C-G c.620C>G p.A207G Missense 3/16 - 1
2-47637486-C-T c.620C>T p.A207V Missense 3/16 - 1
2-47637488-G-A c.622G>A p.G208R Missense 3/16 - 1
2-47637488-G-C c.622G>C p.G208R Missense 3/16 - 1
2-47637488-G-T c.622G>T p.G208* Nonsense 3/16 - 1
2-47637489-G-A c.623G>A p.G208E Missense 3/16 - 1
2-47637489-G-C c.623G>C p.G208A Missense 3/16 - 1
2-47637489-G-T c.623G>T p.G208V Missense 3/16 - 1
2-47637491-G-A c.625G>A p.D209N Missense 3/16 - 1
2-47637491-G-C c.625G>C p.D209H Missense 3/16 - 1
2-47637491-G-T c.625G>T p.D209Y Missense 3/16 - 1
2-47637492-A-C c.626A>C p.D209A Missense 3/16 - 1
2-47637492-A-G c.626A>G p.D209G Missense 3/16 - 1
2-47637492-A-T c.626A>T p.D209V Missense 3/16 - 1
2-47637493-C-A c.627C>A p.D209E Missense 3/16 - 1
2-47637493-C-G c.627C>G p.D209E Missense 3/16 - 1
2-47637494-A-C c.628A>C p.M210L Missense 3/16 - 1
2-47637494-A-T c.628A>T p.M210L Missense 3/16 - 1
2-47637494-A-G c.628A>G p.M210V Missense 3/16 - 1
2-47637495-T-A c.629T>A p.M210K Missense 3/16 - 1
2-47637495-T-C c.629T>C p.M210T Missense 3/16 - 1
2-47637495-T-G c.629T>G p.M210R Missense 3/16 - 1
2-47637496-G-C c.630G>C p.M210I Missense 3/16 - 2
2-47637496-G-A c.630G>A p.M210I Missense 3/16 - 2
2-47637496-G-T c.630G>T p.M210I Missense 3/16 - 2
2-47637497-G-A c.631G>A p.G211R Missense 3/16 - 1
2-47637497-G-C c.631G>C p.G211R Missense 3/16 - 1
2-47637498-G-A c.632G>A p.G211E Missense 3/16 - 1
2-47637498-G-C c.632G>C p.G211A Missense 3/16 - 1
2-47637498-G-T c.632G>T p.G211V Missense 3/16 - 1
2-47637495-T-TG c.633dup p.K212Efs*20 Frameshift 3/16 - 2
2-47637500-A-C c.634A>C p.K212Q Missense 3/16 - 1
2-47637500-A-G c.634A>G p.K212E Missense 3/16 - 1
2-47637501-A-C c.635A>C p.K212T Missense 3/16 - 1
2-47637501-A-G c.635A>G p.K212R Missense 3/16 - 1
2-47637501-A-T c.635A>T p.K212I Missense 3/16 - 1
2-47637503-C-A c.637C>A p.L213M Missense 3/16 - 1
2-47637503-C-G c.637C>G p.L213V Missense 3/16 - 2
2-47637504-T-A c.638T>A p.L213Q Missense 3/16 - 2
2-47637504-T-C c.638T>C p.L213P Missense 3/16 - 1
2-47637504-T-G c.638T>G p.L213R Missense 3/16 - 1
2-47637503-C-CT c.638dup p.R214Efs*18 Frameshift 3/16 - 2
2-47637504-CTG-C c.638_639del p.L213Qfs*18 Frameshift 3/16 - 1
2-47637506-A-G c.640A>G p.R214G Missense 3/16 - 1
2-47637506-AGA-TGT c.640_642delinsTGT p.R214C Missense 3/16 - 1
2-47637507-G-T c.641G>T p.R214I Missense 3/16 - 5
2-47637507-G-A c.641G>A p.R214K Missense 3/16 - 1
2-47637507-G-C c.641G>C p.R214T Missense 3/16 - 1
2-47637508-A-C c.642A>C p.R214S Missense 3/16 - 1
2-47637508-A-T c.642A>T p.R214S Missense 3/16 - 1
2-47637505-GAGAC-G c.642_645del p.Q215* SpliceDonorDeletion 3/16 - 2
2-47637509-C-A c.643C>A p.Q215K Missense 3/16 - 1
2-47637509-C-G c.643C>G p.Q215E Missense 3/16 - 1
2-47637509-C-T c.643C>T p.Q215* Nonsense 3/16 - 1
2-47637512-G-A c.645+1G>A - IntronicSNV - 3/15 4
2-47637514-A-G c.645+3A>G - IntronicSNV - 3/15 1
2-47639553-A-T c.646A>T p.I216L Missense 4/16 - 1
2-47639553-A-G c.646A>G p.I216V Missense 4/16 - 1
2-47639553-A-C c.646A>C p.I216L Missense 4/16 - 1
2-47639553-A-AT c.647dup p.I217Nfs*15 SpliceAcceptorInsertion 4/16 - 1
2-47639554-T-TA c.649dup p.I217Nfs*15 Frameshift 4/16 - 1
2-47639556-A-C c.649A>C p.I217L Missense 4/16 - 1
2-47639556-A-G c.649A>G p.I217V Missense 4/16 - 1
2-47639556-A-T c.649A>T p.I217F Missense 4/16 - 1
2-47639556-AATT-A c.649_651del p.I217del InFrameDeletion 4/16 - 1
2-47639557-T-A c.650T>A p.I217N Missense 4/16 - 1
2-47639557-T-C c.650T>C p.I217T Missense 4/16 - 1
2-47639557-T-G c.650T>G p.I217S Missense 4/16 - 1
2-47639558-T-G c.651T>G p.I217M Missense 4/16 - 1
2-47639556-A-AT c.651dup p.Q218Sfs*14 Frameshift 4/16 - 1
2-47639559-C-A c.652C>A p.Q218K Missense 4/16 - 1
2-47639559-C-G c.652C>G p.Q218E Missense 4/16 - 1
2-47639560-A-C c.653A>C p.Q218P Missense 4/16 - 1
2-47639560-A-G c.653A>G p.Q218R Missense 4/16 - 1
2-47639560-A-T c.653A>T p.Q218L Missense 4/16 - 1
2-47639561-A-C c.654A>C p.Q218H Missense 4/16 - 1
2-47639561-A-T c.654A>T p.Q218H Missense 4/16 - 1
2-47639562-A-T c.655A>T p.R219* Nonsense 4/16 - 1
2-47639562-A-G c.655A>G p.R219G Missense 4/16 - 2
2-47639563-G-A c.656G>A p.R219K Missense 4/16 - 1
2-47639563-G-C c.656G>C p.R219T Missense 4/16 - 1
2-47639563-G-T c.656G>T p.R219I Missense 4/16 - 1
2-47639564-A-C c.657A>C p.R219S Missense 4/16 - 1
2-47639564-A-T c.657A>T p.R219S Missense 4/16 - 1
2-47639565-G-T c.658G>T p.G220* Nonsense 4/16 - 1
2-47639565-G-A c.658G>A p.G220R Missense 4/16 - 1
2-47639565-G-C c.658G>C p.G220R Missense 4/16 - 1
2-47639566-G-A c.659G>A p.G220E Missense 4/16 - 1
2-47639566-G-C c.659G>C p.G220A Missense 4/16 - 1
2-47639566-G-T c.659G>T p.G220V Missense 4/16 - 1
2-47639568-GGA-AGC c.661_663delinsAGC p.G221S Missense 4/16 - 1
2-47639568-G-A c.661G>A p.G221R Missense 4/16 - 1
2-47639568-G-C c.661G>C p.G221R Missense 4/16 - 1
2-47639569-G-A c.662G>A p.G221E Missense 4/16 - 1
2-47639569-G-C c.662G>C p.G221A Missense 4/16 - 1
2-47639569-G-T c.662G>T p.G221V Missense 4/16 - 2
2-47639570-A-G c.663A>G p.G221= Synonymous 4/16 - 1
2-47639571-A-C c.664A>C p.I222L Missense 4/16 - 1
2-47639571-A-G c.664A>G p.I222V Missense 4/16 - 1
2-47639571-A-T c.664A>T p.I222F Missense 4/16 - 1
2-47639572-T-A c.665T>A p.I222N Missense 4/16 - 1
2-47639572-T-C c.665T>C p.I222T Missense 4/16 - 1
2-47639572-T-G c.665T>G p.I222S Missense 4/16 - 1
2-47639571-AT-A c.666del p.L223* Frameshift 4/16 - 1
2-47639573-T-G c.666T>G p.I222M Missense 4/16 - 1
2-47639574-C-G c.667C>G p.L223V Missense 4/16 - 1
2-47639574-CT-GC c.667_668delinsGC p.L223A Missense 4/16 - 1
2-47639575-T-C c.668T>C p.L223P Missense 4/16 - 1
2-47639575-T-G c.668T>G p.L223R Missense 4/16 - 1
2-47639577-A-C c.670A>C p.I224L Missense 4/16 - 2
2-47639577-A-G c.670A>G p.I224V Missense 4/16 - 1
2-47639577-A-T c.670A>T p.I224F Missense 4/16 - 1
2-47639578-T-A c.671T>A p.I224N Missense 4/16 - 1
2-47639578-T-C c.671T>C p.I224T Missense 4/16 - 1
2-47639578-T-G c.671T>G p.I224S Missense 4/16 - 1
2-47639579-C-G c.672C>G p.I224M Missense 4/16 - 1
2-47639580-ACA-TGT c.673_675inv p.T225C Missense 4/16 - 2
2-47639580-A-C c.673A>C p.T225P Missense 4/16 - 1
2-47639580-A-G c.673A>G p.T225A Missense 4/16 - 1
2-47639580-A-T c.673A>T p.T225S Missense 4/16 - 1
2-47639581-C-G c.674C>G p.T225R Missense 4/16 - 1
2-47639581-C-T c.674C>T p.T225I Missense 4/16 - 1
2-47639583-G-A c.676G>A p.E226K Missense 4/16 - 1
2-47639583-G-C c.676G>C p.E226Q Missense 4/16 - 1
2-47639583-G-T c.676G>T p.E226* Nonsense 4/16 - 1
2-47639584-A-C c.677A>C p.E226A Missense 4/16 - 1
2-47639584-A-G c.677A>G p.E226G Missense 4/16 - 1
2-47639584-A-T c.677A>T p.E226V Missense 4/16 - 1
2-47639585-A-AT c.678_679insT p.R227* Nonsense 4/16 - 1
2-47639585-A-C c.678A>C p.E226D Missense 4/16 - 1
2-47639585-A-T c.678A>T p.E226D Missense 4/16 - 1
2-47639583-GA-G c.679del p.R227Efs*19 Frameshift 4/16 - 1
2-47639586-AGAA-TTCCT c.679_682delinsTTCCT p.R227Ffs*5 Frameshift 4/16 - 1
2-47639586-A-G c.679A>G p.R227G Missense 4/16 - 1
2-47639586-A-T c.679A>T p.R227* Nonsense 4/16 - 1
2-47639586-AGA-TGG c.679_681delinsTGG p.R227W Missense 4/16 - 1
2-47639587-G-A c.680G>A p.R227K Missense 4/16 - 1
2-47639587-G-C c.680G>C p.R227T Missense 4/16 - 1
2-47639587-G-T c.680G>T p.R227I Missense 4/16 - 1
2-47639581-CAGAA-C c.680_683del p.R227Kfs*18 Frameshift 4/16 - 2
2-47639585-AAG-A c.680_681del p.R227Kfs*4 Frameshift 4/16 - 1
2-47639588-A-C c.681A>C p.R227S Missense 4/16 - 1
2-47639588-A-T c.681A>T p.R227S Missense 4/16 - 1
2-47639589-A-G c.682A>G p.K228E Missense 4/16 - 4
2-47639589-A-C c.682A>C p.K228Q Missense 4/16 - 1
2-47639590-A-C c.683A>C p.K228T Missense 4/16 - 1
2-47639590-A-G c.683A>G p.K228R Missense 4/16 - 1
2-47639590-A-T c.683A>T p.K228I Missense 4/16 - 1
2-47639591-A-C c.684A>C p.K228N Missense 4/16 - 1
2-47639591-A-T c.684A>T p.K228N Missense 4/16 - 1
2-47639592-A-C c.685A>C p.K229Q Missense 4/16 - 1
2-47639593-A-C c.686A>C p.K229T Missense 4/16 - 2
2-47639587-GA-G c.687del p.A230Lfs*16 Frameshift 4/16 - 4
2-47639594-A-C c.687A>C p.K229N Missense 4/16 - 1
2-47639594-A-T c.687A>T p.K229N Missense 4/16 - 1
2-47639595-G-T c.688G>T p.A230S Missense 4/16 - 2
2-47639595-G-A c.688G>A p.A230T Missense 4/16 - 1
2-47639595-G-C c.688G>C p.A230P Missense 4/16 - 1
2-47639596-C-A c.689C>A p.A230D Missense 4/16 - 1
2-47639596-C-G c.689C>G p.A230G Missense 4/16 - 1
2-47639596-C-T c.689C>T p.A230V Missense 4/16 - 1
2-47639598-G-T c.691G>T p.D231Y Missense 4/16 - 3
2-47639598-TG-T c.691del p.D231Tfs*15 Frameshift 4/16 - 2
2-47639598-G-A c.691G>A p.D231N Missense 4/16 - 1
2-47639598-G-C c.691G>C p.D231H Missense 4/16 - 1
2-47639599-A-C c.692A>C p.D231A Missense 4/16 - 1
2-47639599-A-G c.692A>G p.D231G Missense 4/16 - 1
2-47639599-A-T c.692A>T p.D231V Missense 4/16 - 1
2-47639600-C-T c.693C>T p.D231= Synonymous 4/16 - 1
2-47639600-C-G c.693C>G p.D231E Missense 4/16 - 2
2-47639600-C-A c.693C>A p.D231E Missense 4/16 - 1
2-47639601-T-A c.694T>A p.F232I Missense 4/16 - 1
2-47639601-T-C c.694T>C p.F232L Missense 4/16 - 1
2-47639601-T-G c.694T>G p.F232V Missense 4/16 - 1
2-47639602-T-A c.695T>A p.F232Y Missense 4/16 - 1
2-47639602-T-C c.695T>C p.F232S Missense 4/16 - 1
2-47639603-T-A c.696T>A p.F232L Missense 4/16 - 1
2-47639603-T-G c.696T>G p.F232L Missense 4/16 - 1
2-47639604-T-A c.697T>A p.S233T Missense 4/16 - 1
2-47639604-T-C c.697T>C p.S233P Missense 4/16 - 1
2-47639604-T-G c.697T>G p.S233A Missense 4/16 - 1
2-47639605-C-A c.698C>A p.S233Y Missense 4/16 - 1
2-47639605-C-G c.698C>G p.S233C Missense 4/16 - 1
2-47639605-C-T c.698C>T p.S233F Missense 4/16 - 1
2-47639607-A-C c.700A>C p.T234P Missense 4/16 - 1
2-47639607-A-G c.700A>G p.T234A Missense 4/16 - 1
2-47639607-A-T c.700A>T p.T234S Missense 4/16 - 1
2-47639608-C-A c.701C>A p.T234K Missense 4/16 - 1
2-47639608-C-G c.701C>G p.T234R Missense 4/16 - 1
2-47639608-C-T c.701C>T p.T234I Missense 4/16 - 1
2-47639610-A-C c.703A>C p.K235Q Missense 4/16 - 1
2-47639610-A-G c.703A>G p.K235E Missense 4/16 - 1
2-47639610-AAA-GAC c.703_705delinsGAC p.K235D Missense 4/16 - 1
2-47639611-A-C c.704A>C p.K235T Missense 4/16 - 1
2-47639611-A-G c.704A>G p.K235R Missense 4/16 - 1
2-47639611-A-T c.704A>T p.K235I Missense 4/16 - 1
2-47639612-A-C c.705A>C p.K235N Missense 4/16 - 1
2-47639612-A-T c.705A>T p.K235N Missense 4/16 - 1
2-47639613-G-A c.706G>A p.D236N Missense 4/16 - 1
2-47639613-G-C c.706G>C p.D236H Missense 4/16 - 1
2-47639613-G-T c.706G>T p.D236Y Missense 4/16 - 1
2-47639614-A-C c.707A>C p.D236A Missense 4/16 - 1
2-47639614-A-G c.707A>G p.D236G Missense 4/16 - 1
2-47639614-A-T c.707A>T p.D236V Missense 4/16 - 1
2-47639615-C-A c.708C>A p.D236E Missense 4/16 - 1
2-47639615-C-G c.708C>G p.D236E Missense 4/16 - 1
2-47639616-A-C c.709A>C p.I237L Missense 4/16 - 1
2-47639616-A-G c.709A>G p.I237V Missense 4/16 - 1
2-47639616-A-T c.709A>T p.I237F Missense 4/16 - 1
2-47639617-T-A c.710T>A p.I237N Missense 4/16 - 1
2-47639617-T-C c.710T>C p.I237T Missense 4/16 - 1
2-47639617-T-G c.710T>G p.I237S Missense 4/16 - 1
2-47639618-TTTATCAGGACCTCAACC-T c.711_727del p.I237Mfs*13 Frameshift 4/16 - 1
2-47639619-T-C c.712T>C p.Y238H Missense 4/16 - 1
2-47639619-T-G c.712T>G p.Y238D Missense 4/16 - 1
2-47639620-A-C c.713A>C p.Y238S Missense 4/16 - 1
2-47639620-A-G c.713A>G p.Y238C Missense 4/16 - 1
2-47639620-A-T c.713A>T p.Y238F Missense 4/16 - 2
2-47639622-C-T c.715C>T p.Q239* Nonsense 4/16 - 2
2-47639622-C-A c.715C>A p.Q239K Missense 4/16 - 1
2-47639622-C-G c.715C>G p.Q239E Missense 4/16 - 1
2-47639623-A-C c.716A>C p.Q239P Missense 4/16 - 1
2-47639623-A-G c.716A>G p.Q239R Missense 4/16 - 2
2-47639623-A-T c.716A>T p.Q239L Missense 4/16 - 1
2-47639624-G-C c.717G>C p.Q239H Missense 4/16 - 1
2-47639624-G-T c.717G>T p.Q239H Missense 4/16 - 1
2-47639624-GGACC-TTA c.717_721delinsTTA p.Q239Hfs*16 Frameshift 4/16 - 1
2-47639625-G-A c.718G>A p.D240N Missense 4/16 - 1
2-47639625-G-C c.718G>C p.D240H Missense 4/16 - 1
2-47639625-G-T c.718G>T p.D240Y Missense 4/16 - 1
2-47639625-GA-AG c.718_719delinsAG p.D240S Missense 4/16 - 1
2-47639623-AG-A c.718del p.D240Tfs*6 Frameshift 4/16 - 1
2-47639626-A-C c.719A>C p.D240A Missense 4/16 - 1
2-47639626-A-G c.719A>G p.D240G Missense 4/16 - 1
2-47639626-A-T c.719A>T p.D240V Missense 4/16 - 1
2-47639628-C-A c.721C>A p.L241I Missense 4/16 - 1
2-47639628-C-G c.721C>G p.L241V Missense 4/16 - 1
2-47639628-C-T c.721C>T p.L241F Missense 4/16 - 2
2-47639628-CT-AG c.721_722inv p.L241S Missense 4/16 - 1
2-47639629-T-C c.722T>C p.L241P Missense 4/16 - 1
2-47639629-T-G c.722T>G p.L241R Missense 4/16 - 1
2-47639630-C-A c.723C>A p.L241= Synonymous 4/16 - 1
2-47639631-A-C c.724A>C p.N242H Missense 4/16 - 1
2-47639631-A-G c.724A>G p.N242D Missense 4/16 - 1
2-47639631-A-T c.724A>T p.N242Y Missense 4/16 - 1
2-47639632-A-G c.725A>G p.N242S Missense 4/16 - 2
2-47639632-A-C c.725A>C p.N242T Missense 4/16 - 1
2-47639632-A-T c.725A>T p.N242I Missense 4/16 - 1
2-47639633-C-A c.726C>A p.N242K Missense 4/16 - 1
2-47639633-C-G c.726C>G p.N242K Missense 4/16 - 1
2-47639634-C-G c.727C>G p.R243G Missense 4/16 - 1
2-47639635-G-A c.728G>A p.R243Q Missense 4/16 - 3
2-47639635-G-C c.728G>C p.R243P Missense 4/16 - 1
2-47639635-G-T c.728G>T p.R243L Missense 4/16 - 1
2-47639637-T-A c.730T>A p.L244M Missense 4/16 - 1
2-47639637-T-G c.730T>G p.L244V Missense 4/16 - 1
2-47639638-T-C c.731T>C p.L244S Missense 4/16 - 1
2-47639638-T-G c.731T>G p.L244W Missense 4/16 - 1
2-47639636-G-GT c.731dup p.L244Ffs*12 Frameshift 4/16 - 1
2-47639639-G-C c.732G>C p.L244F Missense 4/16 - 1
2-47639639-G-T c.732G>T p.L244F Missense 4/16 - 1
2-47639640-T-A c.733T>A p.L245M Missense 4/16 - 1
2-47639640-T-G c.733T>G p.L245V Missense 4/16 - 1
2-47639641-T-C c.734T>C p.L245S Missense 4/16 - 1
2-47639641-T-G c.734T>G p.L245W Missense 4/16 - 1
2-47639642-G-C c.735G>C p.L245F Missense 4/16 - 1
2-47639642-G-T c.735G>T p.L245F Missense 4/16 - 1
2-47639643-A-C c.736A>C p.K246Q Missense 4/16 - 2
2-47639643-A-G c.736A>G p.K246E Missense 4/16 - 1
2-47639644-A-C c.737A>C p.K246T Missense 4/16 - 1
2-47639644-A-G c.737A>G p.K246R Missense 4/16 - 1
2-47639644-A-T c.737A>T p.K246I Missense 4/16 - 1
2-47639645-A-C c.738A>C p.K246N Missense 4/16 - 1
2-47639645-A-T c.738A>T p.K246N Missense 4/16 - 1
2-47639646-G-A c.739G>A p.G247S Missense 4/16 - 1
2-47639646-G-C c.739G>C p.G247R Missense 4/16 - 1
2-47639646-G-T c.739G>T p.G247C Missense 4/16 - 1
2-47639647-G-A c.740G>A p.G247D Missense 4/16 - 1
2-47639647-G-C c.740G>C p.G247A Missense 4/16 - 1
2-47639647-G-T c.740G>T p.G247V Missense 4/16 - 1
2-47639649-A-C c.742A>C p.K248Q Missense 4/16 - 2
2-47639649-A-G c.742A>G p.K248E Missense 4/16 - 2
2-47639650-A-AGGTAAAAAAAAAAAAAAAAAAAAAAAGG c.743_744insGGTAAAAAAAAAAAAAAAAAAAAAAAGG p.K249Vfs*16 Frameshift 4/16 - 1
2-47639650-A-C c.743A>C p.K248T Missense 4/16 - 1
2-47639650-A-G c.743A>G p.K248R Missense 4/16 - 1
2-47639650-A-T c.743A>T p.K248I Missense 4/16 - 1
2-47639651-A-C c.744A>C p.K248N Missense 4/16 - 1
2-47639651-A-T c.744A>T p.K248N Missense 4/16 - 1
2-47639652-A-C c.745A>C p.K249Q Missense 4/16 - 1
2-47639652-A-G c.745A>G p.K249E Missense 4/16 - 1
2-47639653-A-C c.746A>C p.K249T Missense 4/16 - 1
2-47639653-A-G c.746A>G p.K249R Missense 4/16 - 1
2-47639653-A-T c.746A>T p.K249M Missense 4/16 - 1
2-47639654-G-C c.747G>C p.K249N Missense 4/16 - 1
2-47639654-G-T c.747G>T p.K249N Missense 4/16 - 1
2-47639655-G-A c.748G>A p.G250R Missense 4/16 - 1
2-47639655-G-C c.748G>C p.G250R Missense 4/16 - 1
2-47639656-G-A c.749G>A p.G250E Missense 4/16 - 1
2-47639656-G-C c.749G>C p.G250A Missense 4/16 - 1
2-47639656-G-T c.749G>T p.G250V Missense 4/16 - 1
2-47639658-G-C c.751G>C p.E251Q Missense 4/16 - 1
2-47639659-A-C c.752A>C p.E251A Missense 4/16 - 1
2-47639659-A-G c.752A>G p.E251G Missense 4/16 - 1
2-47639659-A-T c.752A>T p.E251V Missense 4/16 - 1
2-47639660-G-C c.753G>C p.E251D Missense 4/16 - 1
2-47639660-G-T c.753G>T p.E251D Missense 4/16 - 1
2-47639661-C-T c.754C>T p.Q252* Nonsense 4/16 - 1
2-47639661-C-A c.754C>A p.Q252K Missense 4/16 - 1
2-47639661-C-G c.754C>G p.Q252E Missense 4/16 - 1
2-47639662-A-C c.755A>C p.Q252P Missense 4/16 - 1
2-47639662-A-G c.755A>G p.Q252R Missense 4/16 - 1
2-47639662-A-T c.755A>T p.Q252L Missense 4/16 - 1
2-47639663-G-C c.756G>C p.Q252H Missense 4/16 - 1
2-47639663-G-T c.756G>T p.Q252H Missense 4/16 - 1
2-47639664-A-C c.757A>C p.M253L Missense 4/16 - 1
2-47639664-A-T c.757A>T p.M253L Missense 4/16 - 1
2-47639664-A-G c.757A>G p.M253V Missense 4/16 - 1
2-47639664-ATG-TAT c.757_759delinsTAT p.M253Y Missense 4/16 - 1
2-47639665-T-A c.758T>A p.M253K Missense 4/16 - 1
2-47639665-T-C c.758T>C p.M253T Missense 4/16 - 1
2-47639665-T-G c.758T>G p.M253R Missense 4/16 - 1
2-47639663-GATGAAT-G c.758_763del p.M253_N254del InFrameDeletion 4/16 - 1
2-47639663-GATGA-G c.759_762del p.M253Ifs*20 Frameshift 4/16 - 2
2-47639667-A-C c.760A>C p.N254H Missense 4/16 - 1
2-47639667-A-G c.760A>G p.N254D Missense 4/16 - 1
2-47639667-A-T c.760A>T p.N254Y Missense 4/16 - 1
2-47639666-GA-G c.761del p.N254Ifs*20 Frameshift 4/16 - 1
2-47639668-A-C c.761A>C p.N254T Missense 4/16 - 1
2-47639668-A-G c.761A>G p.N254S Missense 4/16 - 1
2-47639668-A-T c.761A>T p.N254I Missense 4/16 - 1
2-47639669-T-A c.762T>A p.N254K Missense 4/16 - 1
2-47639669-T-G c.762T>G p.N254K Missense 4/16 - 1
2-47639670-AGTG-TT c.763_766delinsTT p.S255Ffs*28 Frameshift 4/16 - 1
2-47639670-A-C c.763A>C p.S255R Missense 4/16 - 1
2-47639670-A-G c.763A>G p.S255G Missense 4/16 - 1
2-47639670-A-T c.763A>T p.S255C Missense 4/16 - 1
2-47639670-AGT-TGA c.763_765delinsTGA p.S255* Nonsense 4/16 - 1
2-47639671-G-A c.764G>A p.S255N Missense 4/16 - 1
2-47639671-G-C c.764G>C p.S255T Missense 4/16 - 1
2-47639671-G-T c.764G>T p.S255I Missense 4/16 - 1
2-47639672-T-A c.765T>A p.S255R Missense 4/16 - 1
2-47639672-T-G c.765T>G p.S255R Missense 4/16 - 1
2-47639673-G-A c.766G>A p.A256T Missense 4/16 - 1
2-47639673-G-C c.766G>C p.A256P Missense 4/16 - 1
2-47639673-G-T c.766G>T p.A256S Missense 4/16 - 1
2-47639674-C-A c.767C>A p.A256D Missense 4/16 - 1
2-47639674-C-G c.767C>G p.A256G Missense 4/16 - 1
2-47639674-C-T c.767C>T p.A256V Missense 4/16 - 2
2-47639676-G-A c.769G>A p.V257I Missense 4/16 - 1
2-47639676-G-C c.769G>C p.V257L Missense 4/16 - 1
2-47639676-G-T c.769G>T p.V257L Missense 4/16 - 1
2-47639677-T-A c.770T>A p.V257E Missense 4/16 - 1
2-47639677-T-C c.770T>C p.V257A Missense 4/16 - 1
2-47639677-T-G c.770T>G p.V257G Missense 4/16 - 1
2-47639679-T-C c.772T>C p.L258= Synonymous 4/16 - 1
2-47639679-T-A c.772T>A p.L258M Missense 4/16 - 1
2-47639679-T-G c.772T>G p.L258V Missense 4/16 - 1
2-47639680-T-C c.773T>C p.L258S Missense 4/16 - 1
2-47639680-T-G c.773T>G p.L258W Missense 4/16 - 1
2-47639680-T-A c.773T>A p.L258* Nonsense 4/16 - 1
2-47639681-G-A c.774G>A p.L258= Synonymous 4/16 - 1
2-47639681-G-C c.774G>C p.L258F Missense 4/16 - 1
2-47639681-G-T c.774G>T p.L258F Missense 4/16 - 1
2-47639682-C-A c.775C>A p.P259T Missense 4/16 - 1
2-47639682-C-G c.775C>G p.P259A Missense 4/16 - 1
2-47639682-C-T c.775C>T p.P259S Missense 4/16 - 2
2-47639683-C-A c.776C>A p.P259Q Missense 4/16 - 1
2-47639683-C-G c.776C>G p.P259R Missense 4/16 - 2
2-47639683-C-T c.776C>T p.P259L Missense 4/16 - 1
2-47639685-G-A c.778G>A p.E260K Missense 4/16 - 3
2-47639685-G-C c.778G>C p.E260Q Missense 4/16 - 1
2-47639686-A-C c.779A>C p.E260A Missense 4/16 - 1
2-47639686-A-G c.779A>G p.E260G Missense 4/16 - 1
2-47639686-A-T c.779A>T p.E260V Missense 4/16 - 1
2-47639687-A-C c.780A>C p.E260D Missense 4/16 - 1
2-47639687-A-T c.780A>T p.E260D Missense 4/16 - 1
2-47639688-A-C c.781A>C p.M261L Missense 4/16 - 1
2-47639688-A-T c.781A>T p.M261L Missense 4/16 - 1
2-47639688-A-G c.781A>G p.M261V Missense 4/16 - 2
2-47639689-T-A c.782T>A p.M261K Missense 4/16 - 1
2-47639689-T-C c.782T>C p.M261T Missense 4/16 - 1
2-47639689-T-G c.782T>G p.M261R Missense 4/16 - 1
2-47639690-G-A c.783G>A p.M261I Missense 4/16 - 1
2-47639690-G-C c.783G>C p.M261I Missense 4/16 - 1
2-47639690-G-T c.783G>T p.M261I Missense 4/16 - 1
2-47639691-G-A c.784G>A p.E262K Missense 4/16 - 2
2-47639691-G-C c.784G>C p.E262Q Missense 4/16 - 1
2-47639689-TG-T c.784del p.E262Rfs*12 Frameshift 4/16 - 1
2-47639692-A-C c.785A>C p.E262A Missense 4/16 - 1
2-47639692-A-G c.785A>G p.E262G Missense 4/16 - 1
2-47639692-A-T c.785A>T p.E262V Missense 4/16 - 1
2-47639693-G-C c.786G>C p.E262D Missense 4/16 - 1
2-47639693-G-T c.786G>T p.E262D Missense 4/16 - 1
2-47639693-G-GT c.786_787insT p.N263* Nonsense 4/16 - 1
2-47639694-A-C c.787A>C p.N263H Missense 4/16 - 1
2-47639694-A-G c.787A>G p.N263D Missense 4/16 - 1
2-47639694-A-T c.787A>T p.N263Y Missense 4/16 - 1
2-47639695-A-C c.788A>C p.N263T Missense 4/16 - 1
2-47639695-A-G c.788A>G p.N263S Missense 4/16 - 1
2-47639695-A-T c.788A>T p.N263I Missense 4/16 - 1
2-47639696-T-A c.789T>A p.N263K Missense 4/16 - 1
2-47639696-T-G c.789T>G p.N263K Missense 4/16 - 1
2-47639697-C-T c.790C>T p.Q264* Nonsense 4/16 - 3
2-47639697-C-G c.790C>G p.Q264E Missense 4/16 - 2
2-47639697-C-A c.790C>A p.Q264K Missense 4/16 - 1
2-47639699-G-C c.792G>C p.Q264H Missense 4/16 - 1
2-47639700-G-A c.792+1G>A - IntronicSNV - 4/15 3
2-47639700-G-T c.792+1G>T - IntronicSNV - 4/15 1
2-47639703-C-T c.792+4C>T - IntronicSNV - 4/15 1
2-47641373-A-G c.793-35A>G - IntronicSNV - 4/15 1
2-47641385-G-A c.793-23G>A - IntronicSNV - 4/15 1
2-47641385-G-T c.793-23G>T - IntronicSNV - 4/15 1
2-47641410-TTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCA-T c.795_853del p.A266Lfs*5 InFrameDeletion 5/16 - 9
2-47641411-G-A c.796G>A p.A266T Missense 5/16 - 1
2-47641411-G-C c.796G>C p.A266P Missense 5/16 - 1
2-47641411-G-T c.796G>T p.A266S Missense 5/16 - 1
2-47641411-GCA-TGG c.796_798delinsTGG p.A266W Missense 5/16 - 1
2-47641412-C-A c.797C>A p.A266E Missense 5/16 - 1
2-47641412-C-G c.797C>G p.A266G Missense 5/16 - 1
2-47641412-C-T c.797C>T p.A266V Missense 5/16 - 1
2-47641413-A-T c.798A>T p.A266= Synonymous 5/16 - 1
2-47641414-G-A c.799G>A p.V267I Missense 5/16 - 1
2-47641414-G-C c.799G>C p.V267L Missense 5/16 - 1
2-47641414-G-T c.799G>T p.V267F Missense 5/16 - 1
2-47641415-T-A c.800T>A p.V267D Missense 5/16 - 1
2-47641415-T-C c.800T>C p.V267A Missense 5/16 - 1
2-47641415-T-G c.800T>G p.V267G Missense 5/16 - 1
2-47641417-T-A c.802T>A p.S268T Missense 5/16 - 1
2-47641417-T-C c.802T>C p.S268P Missense 5/16 - 1
2-47641417-T-G c.802T>G p.S268A Missense 5/16 - 1
2-47641418-C-T c.803C>T p.S268L Missense 5/16 - 2
2-47641419-A-T c.804A>T p.S268= Synonymous 5/16 - 1
2-47641420-T-A c.805T>A p.S269T Missense 5/16 - 1
2-47641420-T-C c.805T>C p.S269P Missense 5/16 - 1
2-47641420-T-G c.805T>G p.S269A Missense 5/16 - 1
2-47641421-C-T c.806C>T p.S269L Missense 5/16 - 2
2-47641421-C-G c.806C>G p.S269* Nonsense 5/16 - 1
2-47641423-C-T c.808C>T p.L270= Synonymous 5/16 - 1
2-47641423-C-A c.808C>A p.L270M Missense 5/16 - 1
2-47641423-C-G c.808C>G p.L270V Missense 5/16 - 1
2-47641424-T-G c.809T>G p.L270R Missense 5/16 - 2
2-47641424-T-A c.809T>A p.L270Q Missense 5/16 - 1
2-47641424-T-C c.809T>C p.L270P Missense 5/16 - 1
2-47641423-CTG-C c.810_811del p.S271Cfs*12 Frameshift 5/16 - 1
2-47641422-ACTGT-A c.811_814del p.S271Rfs*2 Frameshift 5/16 - 1
2-47641426-T-A c.811T>A p.S271T Missense 5/16 - 1
2-47641426-T-C c.811T>C p.S271P Missense 5/16 - 1
2-47641426-T-G c.811T>G p.S271A Missense 5/16 - 1
2-47641427-C-A c.812C>A p.S271Y Missense 5/16 - 1
2-47641427-C-G c.812C>G p.S271C Missense 5/16 - 2
2-47641427-C-T c.812C>T p.S271F Missense 5/16 - 1
2-47641429-G-A c.814G>A p.A272T Missense 5/16 - 1
2-47641429-G-C c.814G>C p.A272P Missense 5/16 - 1
2-47641429-G-T c.814G>T p.A272S Missense 5/16 - 2
2-47641430-C-T c.815C>T p.A272V Missense 5/16 - 14
2-47641430-C-G c.815C>G p.A272G Missense 5/16 - 1
2-47641432-G-A c.817G>A p.V273I Missense 5/16 - 2
2-47641432-G-C c.817G>C p.V273L Missense 5/16 - 1
2-47641432-G-T c.817G>T p.V273L Missense 5/16 - 1
2-47641433-T-C c.818T>C p.V273A Missense 5/16 - 1
2-47641433-T-G c.818T>G p.V273G Missense 5/16 - 1
2-47641435-A-C c.820A>C p.I274L Missense 5/16 - 1
2-47641435-A-G c.820A>G p.I274V Missense 5/16 - 1
2-47641435-A-T c.820A>T p.I274F Missense 5/16 - 1
2-47641436-T-C c.821T>C p.I274T Missense 5/16 - 1
2-47641436-T-G c.821T>G p.I274S Missense 5/16 - 1
2-47641437-C-G c.822C>G p.I274M Missense 5/16 - 1
2-47641438-A-C c.823A>C p.K275Q Missense 5/16 - 2
2-47641439-A-C c.824A>C p.K275T Missense 5/16 - 2
2-47641439-A-G c.824A>G p.K275R Missense 5/16 - 1
2-47641439-A-T c.824A>T p.K275M Missense 5/16 - 1
2-47641440-G-T c.825G>T p.K275N Missense 5/16 - 2
2-47641440-G-C c.825G>C p.K275N Missense 5/16 - 1
2-47641441-T-A c.826T>A p.F276I Missense 5/16 - 1
2-47641441-T-C c.826T>C p.F276L Missense 5/16 - 1
2-47641441-T-G c.826T>G p.F276V Missense 5/16 - 1
2-47641442-T-A c.827T>A p.F276Y Missense 5/16 - 1
2-47641442-T-C c.827T>C p.F276S Missense 5/16 - 1
2-47641442-T-G c.827T>G p.F276C Missense 5/16 - 1
2-47641443-T-A c.828T>A p.F276L Missense 5/16 - 1
2-47641443-T-G c.828T>G p.F276L Missense 5/16 - 1
2-47641444-T-A c.829T>A p.L277I Missense 5/16 - 1
2-47641444-T-G c.829T>G p.L277V Missense 5/16 - 1
2-47641445-T-A c.830T>A p.L277* Nonsense 5/16 - 1
2-47641445-T-G c.830T>G p.L277* Nonsense 5/16 - 2
2-47641445-T-C c.830T>C p.L277S Missense 5/16 - 1
2-47641440-GT-G c.830del p.L277* Frameshift 5/16 - 2
2-47641446-A-C c.831A>C p.L277F Missense 5/16 - 1
2-47641446-A-T c.831A>T p.L277F Missense 5/16 - 1
2-47641447-G-A c.832G>A p.E278K Missense 5/16 - 1
2-47641447-G-C c.832G>C p.E278Q Missense 5/16 - 1
2-47641447-AG-A c.832del p.E278Nfs*14 Frameshift 5/16 - 1
2-47641447-G-T c.832G>T p.E278* Nonsense 5/16 - 1
2-47641448-A-C c.833A>C p.E278A Missense 5/16 - 1
2-47641448-A-G c.833A>G p.E278G Missense 5/16 - 1
2-47641448-A-T c.833A>T p.E278V Missense 5/16 - 1
2-47641449-A-C c.834A>C p.E278D Missense 5/16 - 1
2-47641449-A-T c.834A>T p.E278D Missense 5/16 - 1
2-47641450-C-A c.835C>A p.L279I Missense 5/16 - 1
2-47641450-C-G c.835C>G p.L279V Missense 5/16 - 3
2-47641450-C-T c.835C>T p.L279F Missense 5/16 - 1
2-47641451-T-A c.836T>A p.L279H Missense 5/16 - 1
2-47641451-T-C c.836T>C p.L279P Missense 5/16 - 1
2-47641451-T-G c.836T>G p.L279R Missense 5/16 - 1
2-47641451-CT-C c.836del p.L279Pfs*13 Frameshift 5/16 - 1
2-47641453-T-A c.838T>A p.L280I Missense 5/16 - 1
2-47641453-T-G c.838T>G p.L280V Missense 5/16 - 1
2-47641452-C-CT c.839dup p.L280Ffs*4 Frameshift 5/16 - 1
2-47641454-T-C c.839T>C p.L280S Missense 5/16 - 2
2-47641455-A-T c.840A>T p.L280F Missense 5/16 - 2
2-47641455-A-C c.840A>C p.L280F Missense 5/16 - 2
2-47641453-TTA-T c.840_841del p.L280Ffs*3 Frameshift 5/16 - 1
2-47641456-T-A c.841T>A p.S281T Missense 5/16 - 1
2-47641456-T-C c.841T>C p.S281P Missense 5/16 - 1
2-47641456-T-G c.841T>G p.S281A Missense 5/16 - 1
2-47641457-C-A c.842C>A p.S281* Nonsense 5/16 - 1
2-47641457-C-G c.842C>G p.S281* Nonsense 5/16 - 3
2-47641457-C-T c.842C>T p.S281L Missense 5/16 - 2
2-47641458-A-T c.843A>T p.S281= Synonymous 5/16 - 1
2-47641459-G-A c.844G>A p.D282N Missense 5/16 - 1
2-47641459-G-C c.844G>C p.D282H Missense 5/16 - 1
2-47641459-G-T c.844G>T p.D282Y Missense 5/16 - 1
2-47641460-A-C c.845A>C p.D282A Missense 5/16 - 1
2-47641460-A-G c.845A>G p.D282G Missense 5/16 - 1
2-47641460-A-T c.845A>T p.D282V Missense 5/16 - 1
2-47641461-T-A c.846T>A p.D282E Missense 5/16 - 1
2-47641461-T-G c.846T>G p.D282E Missense 5/16 - 1
2-47641462-G-T c.847G>T p.D283Y Missense 5/16 - 2
2-47641462-G-A c.847G>A p.D283N Missense 5/16 - 1
2-47641462-G-C c.847G>C p.D283H Missense 5/16 - 1
2-47641462-GAT-AAG c.847_849delinsAAG p.D283K Missense 5/16 - 1
2-47641463-A-C c.848A>C p.D283A Missense 5/16 - 1
2-47641463-A-G c.848A>G p.D283G Missense 5/16 - 1
2-47641463-A-T c.848A>T p.D283V Missense 5/16 - 1
2-47641464-T-A c.849T>A p.D283E Missense 5/16 - 1
2-47641464-T-G c.849T>G p.D283E Missense 5/16 - 1
2-47641465-T-A c.850T>A p.S284T Missense 5/16 - 1
2-47641465-T-C c.850T>C p.S284P Missense 5/16 - 1
2-47641465-T-G c.850T>G p.S284A Missense 5/16 - 1
2-47641466-C-A c.851C>A p.S284Y Missense 5/16 - 1
2-47641466-C-G c.851C>G p.S284C Missense 5/16 - 1
2-47641466-C-T c.851C>T p.S284F Missense 5/16 - 1
2-47641468-A-G c.853A>G p.N285D Missense 5/16 - 2
2-47641468-A-C c.853A>C p.N285H Missense 5/16 - 1
2-47641468-A-T c.853A>T p.N285Y Missense 5/16 - 1
2-47641469-A-C c.854A>C p.N285T Missense 5/16 - 1
2-47641469-A-G c.854A>G p.N285S Missense 5/16 - 1
2-47641469-A-T c.854A>T p.N285I Missense 5/16 - 1
2-47641467-CA-C c.854del p.N285Tfs*7 Frameshift 5/16 - 1
2-47641470-C-A c.855C>A p.N285K Missense 5/16 - 1
2-47641470-C-G c.855C>G p.N285K Missense 5/16 - 1
2-47641471-T-A c.856T>A p.F286I Missense 5/16 - 1
2-47641471-T-C c.856T>C p.F286L Missense 5/16 - 1
2-47641471-T-G c.856T>G p.F286V Missense 5/16 - 1
2-47641472-T-C c.857T>C p.F286S Missense 5/16 - 1
2-47641473-T-A c.858T>A p.F286L Missense 5/16 - 1
2-47641473-T-G c.858T>G p.F286L Missense 5/16 - 1
2-47641474-G-T c.859G>T p.G287* Nonsense 5/16 - 2
2-47641474-G-A c.859G>A p.G287R Missense 5/16 - 1
2-47641474-G-C c.859G>C p.G287R Missense 5/16 - 1
2-47641474-GGA-TGT c.859_861delinsTGT p.G287C Missense 5/16 - 1
2-47641475-G-A c.860G>A p.G287E Missense 5/16 - 1
2-47641475-G-C c.860G>C p.G287A Missense 5/16 - 1
2-47641475-G-T c.860G>T p.G287V Missense 5/16 - 2
2-47641473-T-TG c.860dup p.Q288Tfs*3 Frameshift 5/16 - 1
2-47641476-A-G c.861A>G p.G287= Synonymous 5/16 - 1
2-47641477-CA-GC c.862_863delinsGC p.Q288A Missense 5/16 - 1
2-47641477-C-T c.862C>T p.Q288* Nonsense 5/16 - 4
2-47641477-C-A c.862C>A p.Q288K Missense 5/16 - 1
2-47641477-C-G c.862C>G p.Q288E Missense 5/16 - 1
2-47641478-A-C c.863A>C p.Q288P Missense 5/16 - 1
2-47641478-A-G c.863A>G p.Q288R Missense 5/16 - 1
2-47641478-A-T c.863A>T p.Q288L Missense 5/16 - 1
2-47641478-CA-C c.863del p.Q288Rfs*4 Frameshift 5/16 - 1
2-47641479-G-C c.864G>C p.Q288H Missense 5/16 - 2
2-47641479-G-T c.864G>T p.Q288H Missense 5/16 - 1
2-47641480-T-A c.865T>A p.F289I Missense 5/16 - 1
2-47641480-T-C c.865T>C p.F289L Missense 5/16 - 1
2-47641480-T-G c.865T>G p.F289V Missense 5/16 - 1
2-47641481-T-C c.866T>C p.F289S Missense 5/16 - 1
2-47641481-T-G c.866T>G p.F289C Missense 5/16 - 2
2-47641482-T-A c.867T>A p.F289L Missense 5/16 - 1
2-47641482-T-G c.867T>G p.F289L Missense 5/16 - 1
2-47641483-G-A c.868G>A p.E290K Missense 5/16 - 1
2-47641483-G-C c.868G>C p.E290Q Missense 5/16 - 1
2-47641483-G-T c.868G>T p.E290* Nonsense 5/16 - 1
2-47641484-A-C c.869A>C p.E290A Missense 5/16 - 1
2-47641484-A-G c.869A>G p.E290G Missense 5/16 - 1
2-47641484-A-T c.869A>T p.E290V Missense 5/16 - 1
2-47641485-A-C c.870A>C p.E290D Missense 5/16 - 1
2-47641485-A-T c.870A>T p.E290D Missense 5/16 - 1
2-47641486-C-A c.871C>A p.L291M Missense 5/16 - 1
2-47641486-C-G c.871C>G p.L291V Missense 5/16 - 1
2-47641487-T-A c.872T>A p.L291Q Missense 5/16 - 1
2-47641487-T-C c.872T>C p.L291P Missense 5/16 - 1
2-47641487-T-G c.872T>G p.L291R Missense 5/16 - 1
2-47641484-AACTG-A c.873_876del p.T292Lfs*8 Frameshift 5/16 - 1
2-47641489-A-C c.874A>C p.T292P Missense 5/16 - 1
2-47641489-A-G c.874A>G p.T292A Missense 5/16 - 1
2-47641489-A-T c.874A>T p.T292S Missense 5/16 - 2
2-47641490-C-G c.875C>G p.T292S Missense 5/16 - 1
2-47641490-C-A c.875C>A p.T292N Missense 5/16 - 1
2-47641490-C-T c.875C>T p.T292I Missense 5/16 - 2
2-47641491-T-TC c.876_877insC p.T293Hfs*3 Frameshift 5/16 - 2
2-47641492-A-G c.877A>G p.T293A Missense 5/16 - 2
2-47641492-A-C c.877A>C p.T293P Missense 5/16 - 1
2-47641492-A-T c.877A>T p.T293S Missense 5/16 - 1
2-47641493-C-G c.878C>G p.T293S Missense 5/16 - 1
2-47641493-C-A c.878C>A p.T293N Missense 5/16 - 1
2-47641493-C-T c.878C>T p.T293I Missense 5/16 - 2
2-47641495-T-A c.880T>A p.F294I Missense 5/16 - 1
2-47641495-T-C c.880T>C p.F294L Missense 5/16 - 1
2-47641495-T-G c.880T>G p.F294V Missense 5/16 - 1
2-47641496-T-C c.881T>C p.F294S Missense 5/16 - 2
2-47641496-T-A c.881T>A p.F294Y Missense 5/16 - 1
2-47641496-T-G c.881T>G p.F294C Missense 5/16 - 1
2-47641493-CTT-C c.881_882del p.F294* Frameshift 5/16 - 1
2-47641493-CT-C c.882del p.F294Lfs*7 Frameshift 5/16 - 1
2-47641493-C-CT c.882dup p.D295* Nonsense 5/16 - 1
2-47641497-T-A c.882T>A p.F294L Missense 5/16 - 1
2-47641497-T-G c.882T>G p.F294L Missense 5/16 - 1
2-47641498-G-A c.883G>A p.D295N Missense 5/16 - 1
2-47641498-G-C c.883G>C p.D295H Missense 5/16 - 1
2-47641498-G-T c.883G>T p.D295Y Missense 5/16 - 2
2-47641499-A-C c.884A>C p.D295A Missense 5/16 - 1
2-47641499-A-G c.884A>G p.D295G Missense 5/16 - 2
2-47641499-A-T c.884A>T p.D295V Missense 5/16 - 1
2-47641500-C-A c.885C>A p.D295E Missense 5/16 - 1
2-47641500-C-G c.885C>G p.D295E Missense 5/16 - 1
2-47641501-T-A c.886T>A p.F296I Missense 5/16 - 1
2-47641501-T-C c.886T>C p.F296L Missense 5/16 - 1
2-47641501-T-G c.886T>G p.F296V Missense 5/16 - 1
2-47641502-T-A c.887T>A p.F296Y Missense 5/16 - 1
2-47641502-T-C c.887T>C p.F296S Missense 5/16 - 1
2-47641502-T-G c.887T>G p.F296C Missense 5/16 - 1
2-47641503-C-A c.888C>A p.F296L Missense 5/16 - 1
2-47641503-C-G c.888C>G p.F296L Missense 5/16 - 1
2-47641504-A-C c.889A>C p.S297R Missense 5/16 - 1
2-47641504-A-G c.889A>G p.S297G Missense 5/16 - 1
2-47641504-A-T c.889A>T p.S297C Missense 5/16 - 1
2-47641505-G-A c.890G>A p.S297N Missense 5/16 - 1
2-47641505-G-C c.890G>C p.S297T Missense 5/16 - 1
2-47641505-G-T c.890G>T p.S297I Missense 5/16 - 1
2-47641506-C-A c.891C>A p.S297R Missense 5/16 - 1
2-47641506-C-G c.891C>G p.S297R Missense 5/16 - 1
2-47641507-C-T c.892C>T p.Q298* Nonsense 5/16 - 9
2-47641507-C-A c.892C>A p.Q298K Missense 5/16 - 1
2-47641507-C-G c.892C>G p.Q298E Missense 5/16 - 1
2-47641508-A-G c.893A>G p.Q298R Missense 5/16 - 2
2-47641508-A-C c.893A>C p.Q298P Missense 5/16 - 1
2-47641508-A-T c.893A>T p.Q298L Missense 5/16 - 1
2-47641510-T-A c.895T>A p.Y299N Missense 5/16 - 1
2-47641510-T-C c.895T>C p.Y299H Missense 5/16 - 2
2-47641511-A-G c.896A>G p.Y299C Missense 5/16 - 2
2-47641511-A-C c.896A>C p.Y299S Missense 5/16 - 1
2-47641511-A-T c.896A>T p.Y299F Missense 5/16 - 1
2-47641513-A-C c.898A>C p.M300L Missense 5/16 - 1
2-47641513-A-T c.898A>T p.M300L Missense 5/16 - 1
2-47641513-A-G c.898A>G p.M300V Missense 5/16 - 1
2-47641514-T-A c.899T>A p.M300K Missense 5/16 - 1
2-47641514-T-C c.899T>C p.M300T Missense 5/16 - 1
2-47641514-T-G c.899T>G p.M300R Missense 5/16 - 1
2-47641515-G-A c.900G>A p.M300I Missense 5/16 - 1
2-47641515-G-C c.900G>C p.M300I Missense 5/16 - 1
2-47641515-G-T c.900G>T p.M300I Missense 5/16 - 1
2-47641516-A-C c.901A>C p.K301Q Missense 5/16 - 1
2-47641517-A-C c.902A>C p.K301T Missense 5/16 - 1
2-47641517-A-G c.902A>G p.K301R Missense 5/16 - 1
2-47641517-A-T c.902A>T p.K301I Missense 5/16 - 1
2-47641518-A-C c.903A>C p.K301N Missense 5/16 - 1
2-47641518-A-T c.903A>T p.K301N Missense 5/16 - 1
2-47641519-T-A c.904T>A p.L302M Missense 5/16 - 1
2-47641519-T-G c.904T>G p.L302V Missense 5/16 - 1
2-47641520-T-C c.905T>C p.L302S Missense 5/16 - 2
2-47641520-T-G c.905T>G p.L302W Missense 5/16 - 1
2-47641520-T-A c.905T>A p.L302* Nonsense 5/16 - 1
2-47641521-G-C c.906G>C p.L302F Missense 5/16 - 1
2-47641521-G-T c.906G>T p.L302F Missense 5/16 - 1
2-47641522-G-A c.907G>A p.D303N Missense 5/16 - 1
2-47641522-G-C c.907G>C p.D303H Missense 5/16 - 1
2-47641523-A-C c.908A>C p.D303A Missense 5/16 - 1
2-47641523-A-G c.908A>G p.D303G Missense 5/16 - 1
2-47641523-A-T c.908A>T p.D303V Missense 5/16 - 1
2-47641524-T-A c.909T>A p.D303E Missense 5/16 - 1
2-47641524-T-G c.909T>G p.D303E Missense 5/16 - 1
2-47641525-A-C c.910A>C p.I304L Missense 5/16 - 1
2-47641525-A-G c.910A>G p.I304V Missense 5/16 - 1
2-47641525-A-T c.910A>T p.I304F Missense 5/16 - 1
2-47641526-T-A c.911T>A p.I304N Missense 5/16 - 1
2-47641526-T-C c.911T>C p.I304T Missense 5/16 - 1
2-47641526-T-G c.911T>G p.I304S Missense 5/16 - 1
2-47641527-T-G c.912T>G p.I304M Missense 5/16 - 1
2-47641528-G-A c.913G>A p.A305T Missense 5/16 - 3
2-47641528-G-C c.913G>C p.A305P Missense 5/16 - 1
2-47641528-G-T c.913G>T p.A305S Missense 5/16 - 1
2-47641529-C-A c.914C>A p.A305E Missense 5/16 - 1
2-47641529-C-G c.914C>G p.A305G Missense 5/16 - 1
2-47641529-C-T c.914C>T p.A305V Missense 5/16 - 1
2-47641527-TGCAGCAGTCA-T c.914_923del p.A305Efs*23 Frameshift 5/16 - 1
2-47641531-G-A c.916G>A p.A306T Missense 5/16 - 1
2-47641531-G-C c.916G>C p.A306P Missense 5/16 - 1
2-47641531-G-T c.916G>T p.A306S Missense 5/16 - 1
2-47641532-C-A c.917C>A p.A306E Missense 5/16 - 1
2-47641532-C-G c.917C>G p.A306G Missense 5/16 - 1
2-47641532-C-T c.917C>T p.A306V Missense 5/16 - 1
2-47641534-G-A c.919G>A p.V307I Missense 5/16 - 2
2-47641534-G-C c.919G>C p.V307L Missense 5/16 - 1
2-47641534-G-T c.919G>T p.V307F Missense 5/16 - 1
2-47641535-T-C c.920T>C p.V307A Missense 5/16 - 1
2-47641535-T-G c.920T>G p.V307G Missense 5/16 - 1
2-47641537-A-G c.922A>G p.R308G Missense 5/16 - 1
2-47641538-G-A c.923G>A p.R308K Missense 5/16 - 2
2-47641538-G-C c.923G>C p.R308T Missense 5/16 - 1
2-47641538-G-T c.923G>T p.R308I Missense 5/16 - 1
2-47641539-A-C c.924A>C p.R308S Missense 5/16 - 1
2-47641539-A-T c.924A>T p.R308S Missense 5/16 - 1
2-47641540-G-A c.925G>A p.A309T Missense 5/16 - 1
2-47641540-G-C c.925G>C p.A309P Missense 5/16 - 1
2-47641540-G-T c.925G>T p.A309S Missense 5/16 - 1
2-47641541-C-T c.926C>T p.A309V Missense 5/16 - 2
2-47641541-C-G c.926C>G p.A309G Missense 5/16 - 2
2-47641541-C-A c.926C>A p.A309D Missense 5/16 - 1
2-47641543-C-A c.928C>A p.L310I Missense 5/16 - 1
2-47641543-C-G c.928C>G p.L310V Missense 5/16 - 1
2-47641544-T-G c.929T>G p.L310R Missense 5/16 - 2
2-47641544-T-C c.929T>C p.L310P Missense 5/16 - 3
2-47641544-T-A c.929T>A p.L310H Missense 5/16 - 1
2-47641546-A-C c.931A>C p.N311H Missense 5/16 - 1
2-47641546-A-G c.931A>G p.N311D Missense 5/16 - 1
2-47641546-A-T c.931A>T p.N311Y Missense 5/16 - 1
2-47641545-TA-T c.932del p.N311Tfs*20 Frameshift 5/16 - 1
2-47641547-A-C c.932A>C p.N311T Missense 5/16 - 1
2-47641547-A-G c.932A>G p.N311S Missense 5/16 - 1
2-47641547-A-T c.932A>T p.N311I Missense 5/16 - 1
2-47641548-C-A c.933C>A p.N311K Missense 5/16 - 1
2-47641548-C-G c.933C>G p.N311K Missense 5/16 - 1
2-47641549-C-A c.934C>A p.L312I Missense 5/16 - 1
2-47641549-C-G c.934C>G p.L312V Missense 5/16 - 1
2-47641549-C-T c.934C>T p.L312F Missense 5/16 - 1
2-47641550-T-A c.935T>A p.L312H Missense 5/16 - 1
2-47641550-T-C c.935T>C p.L312P Missense 5/16 - 1
2-47641550-T-G c.935T>G p.L312R Missense 5/16 - 1
2-47641552-T-A c.937T>A p.F313I Missense 5/16 - 1
2-47641552-T-C c.937T>C p.F313L Missense 5/16 - 1
2-47641552-T-G c.937T>G p.F313V Missense 5/16 - 1
2-47641553-T-A c.938T>A p.F313Y Missense 5/16 - 1
2-47641553-T-C c.938T>C p.F313S Missense 5/16 - 1
2-47641553-T-G c.938T>G p.F313C Missense 5/16 - 1
2-47641549-CT-C c.939del p.Q314Rfs*17 Frameshift 5/16 - 1
2-47641554-T-A c.939T>A p.F313L Missense 5/16 - 1
2-47641554-T-G c.939T>G p.F313L Missense 5/16 - 1
2-47641554-T-TC c.940dup p.Q314Pfs*5 SpliceDonorInsertion 5/16 - 1
2-47641555-C-A c.940C>A p.Q314K Missense 5/16 - 1
2-47641555-C-G c.940C>G p.Q314E Missense 5/16 - 1
2-47641555-C-T c.940C>T p.Q314* Nonsense 5/16 - 1
2-47641555-TCAG-T c.940_942del p.Q314del InFrameDeletion 5/16 - 1
2-47641558-G-C c.942+1G>C - IntronicSNV - 5/15 1
2-47641558-GGTAA-G c.942+1_942+4del - SpliceDonorDeletion - 5/15 1
2-47641558-G-T c.942+1G>T - IntronicSNV - 5/15 1
2-47641559-T-A c.942+2T>A - IntronicSNV - 5/15 2
2-47641559-GT-G c.942+2del - IntronicDeletion - 5/15 2
2-47641559-GTAAAAAA-G c.942+2_942+8del - IntronicDeletion - 5/15 1
2-47641559-GTAAAAA-G c.942+2_942+7del - IntronicDeletion - 5/15 1
2-47641559-T-C c.942+2T>C - IntronicSNV - 5/15 1
2-47641559-T-G c.942+2T>G - IntronicSNV - 5/15 2
2-47641560-A-T c.942+3A>T - IntronicSNV - 5/15 49
2-47641560-A-G c.942+3A>G - IntronicSNV - 5/15 2
2-47641565-A-T c.942+8A>T - IntronicSNV - 5/15 1
2-47641566-A-G c.942+9A>G - IntronicSNV - 5/15 1
2-47641559-TAAAAAAAAAAAAAA-T c.942+16_942+29del - IntronicDeletion - 5/15 1
2-47641559-TAAAAAAAAAAAA-T c.942+18_942+29del - IntronicDeletion - 5/15 1
2-47641559-TAAAAAA-T c.942+24_942+29del - IntronicDeletion - 5/15 1
2-47641556-A-AGGTAAAAAAAAAAAAAAAAAAAAAAAGG c.942+25_942+26insGGGGTAAAAAAAAAAAAAAAAAAAAAAA - SpliceDonorInsertion - 5/15 1
2-47641559-TAAAAA-T c.942+25_942+29del - IntronicDeletion - 5/15 1
2-47641559-TAAAA-T c.942+26_942+29del - IntronicDeletion - 5/15 1
2-47641559-TAAA-T c.942+27_942+29del - IntronicDeletion - 5/15 1
2-47641603-A-G c.942+46A>G - IntronicSNV - 5/15 1
2-47641628-A-C c.942+71A>C - IntronicSNV - 5/15 1
2-47641902-GGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTC-G c.942+345_942+403del - Unclassified - 5/15 1
2-47643434-G-A c.943-1G>A - IntronicSNV - 5/15 3
2-47643434-G-C c.943-1G>C - IntronicSNV - 5/15 3
2-47643434-G-T c.943-1G>T - IntronicSNV - 5/15 3
2-47643435-G-C c.943G>C p.G315R Missense 6/16 - 1
2-47643436-G-T c.944G>T p.G315V Missense 6/16 - 6
2-47643436-G-A c.944G>A p.G315D Missense 6/16 - 3
2-47643438-TC-AT c.946_947delinsAT p.S316I Missense 6/16 - 3
2-47643438-T-A c.946T>A p.S316T Missense 6/16 - 1
2-47643438-T-C c.946T>C p.S316P Missense 6/16 - 1
2-47643438-T-G c.946T>G p.S316A Missense 6/16 - 1
2-47643439-C-A c.947C>A p.S316Y Missense 6/16 - 1
2-47643439-C-G c.947C>G p.S316C Missense 6/16 - 1
2-47643439-C-T c.947C>T p.S316F Missense 6/16 - 1
2-47643441-G-C c.949G>C p.V317L Missense 6/16 - 3
2-47643441-G-A c.949G>A p.V317I Missense 6/16 - 1
2-47643441-G-T c.949G>T p.V317F Missense 6/16 - 1
2-47643442-T-A c.950T>A p.V317D Missense 6/16 - 1
2-47643442-T-C c.950T>C p.V317A Missense 6/16 - 1
2-47643442-T-G c.950T>G p.V317G Missense 6/16 - 1
2-47643444-G-A c.952G>A p.E318K Missense 6/16 - 6
2-47643444-G-C c.952G>C p.E318Q Missense 6/16 - 1
2-47643445-A-C c.953A>C p.E318A Missense 6/16 - 1
2-47643445-A-G c.953A>G p.E318G Missense 6/16 - 1
2-47643445-A-T c.953A>T p.E318V Missense 6/16 - 1
2-47643447-G-A c.955G>A p.D319N Missense 6/16 - 1
2-47643447-G-C c.955G>C p.D319H Missense 6/16 - 1
2-47643447-G-T c.955G>T p.D319Y Missense 6/16 - 1
2-47643448-A-C c.956A>C p.D319A Missense 6/16 - 1
2-47643448-A-G c.956A>G p.D319G Missense 6/16 - 1
2-47643448-A-T c.956A>T p.D319V Missense 6/16 - 2
2-47643449-T-A c.957T>A p.D319E Missense 6/16 - 1
2-47643449-T-G c.957T>G p.D319E Missense 6/16 - 1
2-47643450-A-C c.958A>C p.T320P Missense 6/16 - 1
2-47643450-A-G c.958A>G p.T320A Missense 6/16 - 1
2-47643450-A-T c.958A>T p.T320S Missense 6/16 - 1
2-47643450-AC-GG c.958_959delinsGG p.T320G Missense 6/16 - 1
2-47643451-C-G c.959C>G p.T320S Missense 6/16 - 1
2-47643451-C-A c.959C>A p.T320N Missense 6/16 - 1
2-47643451-C-T c.959C>T p.T320I Missense 6/16 - 1
2-47643453-A-C c.961A>C p.T321P Missense 6/16 - 1
2-47643453-A-G c.961A>G p.T321A Missense 6/16 - 2
2-47643453-A-T c.961A>T p.T321S Missense 6/16 - 1
2-47643454-C-G c.962C>G p.T321S Missense 6/16 - 1
2-47643454-C-A c.962C>A p.T321N Missense 6/16 - 1
2-47643454-C-T c.962C>T p.T321I Missense 6/16 - 1
2-47643456-G-A c.964G>A p.G322S Missense 6/16 - 1
2-47643456-G-C c.964G>C p.G322R Missense 6/16 - 1
2-47643456-G-T c.964G>T p.G322C Missense 6/16 - 1
2-47643457-G-A c.965G>A p.G322D Missense 6/16 - 59
2-47643457-G-T c.965G>T p.G322V Missense 6/16 - 10
2-47643457-G-C c.965G>C p.G322A Missense 6/16 - 1
2-47643458-C-T c.966C>T p.G322= Synonymous 6/16 - 1
2-47643458-C-G c.966C>G p.G322= Synonymous 6/16 - 1
2-47643458-C-A c.966C>A p.G322= Synonymous 6/16 - 1
2-47643459-T-A c.967T>A p.S323T Missense 6/16 - 1
2-47643459-T-C c.967T>C p.S323P Missense 6/16 - 1
2-47643459-T-G c.967T>G p.S323A Missense 6/16 - 1
2-47643460-C-T c.968C>T p.S323F Missense 6/16 - 2
2-47643460-C-G c.968C>G p.S323C Missense 6/16 - 2
2-47643460-C-A c.968C>A p.S323Y Missense 6/16 - 3
2-47643457-GCT-G c.969_970del p.Q324Vfs*8 Frameshift 6/16 - 2
2-47643462-C-G c.970C>G p.Q324E Missense 6/16 - 2
2-47643462-C-T c.970C>T p.Q324* Nonsense 6/16 - 3
2-47643462-C-A c.970C>A p.Q324K Missense 6/16 - 1
2-47643463-A-C c.971A>C p.Q324P Missense 6/16 - 1
2-47643463-A-G c.971A>G p.Q324R Missense 6/16 - 3
2-47643463-A-T c.971A>T p.Q324L Missense 6/16 - 1
2-47643464-G-C c.972G>C p.Q324H Missense 6/16 - 7
2-47643464-G-T c.972G>T p.Q324H Missense 6/16 - 6
2-47643464-G-A c.972G>A p.Q324= Synonymous 6/16 - 2
2-47643465-T-A c.973T>A p.S325T Missense 6/16 - 1
2-47643465-T-C c.973T>C p.S325P Missense 6/16 - 1
2-47643465-T-G c.973T>G p.S325A Missense 6/16 - 1
2-47643466-C-A c.974C>A p.S325Y Missense 6/16 - 1
2-47643466-C-G c.974C>G p.S325C Missense 6/16 - 1
2-47643466-C-T c.974C>T p.S325F Missense 6/16 - 1
2-47643468-C-A c.976C>A p.L326M Missense 6/16 - 1
2-47643468-C-G c.976C>G p.L326V Missense 6/16 - 1
2-47643469-T-A c.977T>A p.L326Q Missense 6/16 - 1
2-47643469-T-C c.977T>C p.L326P Missense 6/16 - 1
2-47643469-T-G c.977T>G p.L326R Missense 6/16 - 1
2-47643471-G-A c.979G>A p.A327T Missense 6/16 - 1
2-47643471-G-C c.979G>C p.A327P Missense 6/16 - 1
2-47643471-G-T c.979G>T p.A327S Missense 6/16 - 1
2-47643472-C-A c.980C>A p.A327D Missense 6/16 - 1
2-47643472-C-G c.980C>G p.A327G Missense 6/16 - 1
2-47643472-C-T c.980C>T p.A327V Missense 6/16 - 1
2-47643474-G-A c.982G>A p.A328T Missense 6/16 - 1
2-47643474-G-C c.982G>C p.A328P Missense 6/16 - 3
2-47643474-G-T c.982G>T p.A328S Missense 6/16 - 1
2-47643475-C-A c.983C>A p.A328D Missense 6/16 - 1
2-47643475-C-G c.983C>G p.A328G Missense 6/16 - 1
2-47643475-C-T c.983C>T p.A328V Missense 6/16 - 1
2-47643476-C-T c.984C>T p.A328= Synonymous 6/16 - 4
2-47643476-C-A c.984C>A p.A328= Synonymous 6/16 - 3
2-47643476-C-G c.984C>G p.A328= Synonymous 6/16 - 3
2-47643477-T-A c.985T>A p.L329M Missense 6/16 - 1
2-47643477-T-G c.985T>G p.L329V Missense 6/16 - 1
2-47643478-T-C c.986T>C p.L329S Missense 6/16 - 1
2-47643478-T-G c.986T>G p.L329W Missense 6/16 - 1
2-47643479-G-C c.987G>C p.L329F Missense 6/16 - 1
2-47643479-G-T c.987G>T p.L329F Missense 6/16 - 1
2-47643480-C-A c.988C>A p.L330M Missense 6/16 - 1
2-47643480-C-G c.988C>G p.L330V Missense 6/16 - 1
2-47643481-T-C c.989T>C p.L330P Missense 6/16 - 3
2-47643481-T-A c.989T>A p.L330Q Missense 6/16 - 1
2-47643481-T-G c.989T>G p.L330R Missense 6/16 - 1
2-47643480-C-CT c.989dup p.N331Efs*2 Frameshift 6/16 - 1
2-47643483-A-G c.991A>G p.N331D Missense 6/16 - 2
2-47643483-A-C c.991A>C p.N331H Missense 6/16 - 1
2-47643483-A-T c.991A>T p.N331Y Missense 6/16 - 1
2-47643484-A-C c.992A>C p.N331T Missense 6/16 - 2
2-47643484-A-G c.992A>G p.N331S Missense 6/16 - 2
2-47643484-A-T c.992A>T p.N331I Missense 6/16 - 1
2-47643485-T-A c.993T>A p.N331K Missense 6/16 - 1
2-47643485-T-G c.993T>G p.N331K Missense 6/16 - 1
2-47643486-A-T c.994A>T p.K332* Nonsense 6/16 - 1
2-47643486-A-C c.994A>C p.K332Q Missense 6/16 - 1
2-47643486-A-G c.994A>G p.K332E Missense 6/16 - 1
2-47643487-A-C c.995A>C p.K332T Missense 6/16 - 1
2-47643487-A-G c.995A>G p.K332R Missense 6/16 - 1
2-47643487-A-T c.995A>T p.K332M Missense 6/16 - 1
2-47643488-G-C c.996G>C p.K332N Missense 6/16 - 1
2-47643488-G-T c.996G>T p.K332N Missense 6/16 - 1
2-47643488-G-A c.996G>A p.K332= Synonymous 6/16 - 1
2-47643489-T-A c.997T>A p.C333S Missense 6/16 - 1
2-47643489-T-C c.997T>C p.C333R Missense 6/16 - 3
2-47643489-T-G c.997T>G p.C333G Missense 6/16 - 1
2-47643489-TG-AC c.997_998delinsAC p.C333T Missense 6/16 - 1
2-47643490-G-A c.998G>A p.C333Y Missense 6/16 - 8
2-47643490-G-C c.998G>C p.C333S Missense 6/16 - 1
2-47643490-G-T c.998G>T p.C333F Missense 6/16 - 1
2-47643491-T-G c.999T>G p.C333W Missense 6/16 - 2
2-47643492-A-G c.1000A>G p.K334E Missense 6/16 - 1
2-47643493-A-C c.1001A>C p.K334T Missense 6/16 - 1
2-47643493-A-G c.1001A>G p.K334R Missense 6/16 - 1
2-47643493-A-T c.1001A>T p.K334I Missense 6/16 - 1
2-47643494-A-C c.1002A>C p.K334N Missense 6/16 - 1
2-47643494-A-T c.1002A>T p.K334N Missense 6/16 - 1
2-47643495-A-C c.1003A>C p.T335P Missense 6/16 - 1
2-47643495-A-G c.1003A>G p.T335A Missense 6/16 - 1
2-47643495-A-T c.1003A>T p.T335S Missense 6/16 - 1
2-47643491-T-TA c.1003dup p.T335Nfs*9 Frameshift 6/16 - 1
2-47643496-C-T c.1004C>T p.T335I Missense 6/16 - 3
2-47643496-C-G c.1004C>G p.T335S Missense 6/16 - 1
2-47643498-C-T c.1006C>T p.P336S Missense 6/16 - 3
2-47643498-C-A c.1006C>A p.P336T Missense 6/16 - 2
2-47643498-C-G c.1006C>G p.P336A Missense 6/16 - 2
2-47643499-C-A c.1007C>A p.P336H Missense 6/16 - 1
2-47643499-C-G c.1007C>G p.P336R Missense 6/16 - 1
2-47643499-C-T c.1007C>T p.P336L Missense 6/16 - 1
2-47643501-C-T c.1009C>T p.Q337* Nonsense 6/16 - 3
2-47643501-C-G c.1009C>G p.Q337E Missense 6/16 - 2
2-47643501-C-A c.1009C>A p.Q337K Missense 6/16 - 1
2-47643502-A-C c.1010A>C p.Q337P Missense 6/16 - 1
2-47643502-A-G c.1010A>G p.Q337R Missense 6/16 - 1
2-47643502-A-T c.1010A>T p.Q337L Missense 6/16 - 1
2-47643503-A-C c.1011A>C p.Q337H Missense 6/16 - 1
2-47643503-A-T c.1011A>T p.Q337H Missense 6/16 - 1
2-47643504-G-A c.1012G>A p.G338R Missense 6/16 - 4
2-47643504-G-C c.1012G>C p.G338R Missense 6/16 - 2
2-47643505-G-A c.1013G>A p.G338E Missense 6/16 - 4
2-47643505-G-C c.1013G>C p.G338A Missense 6/16 - 1
2-47643505-G-T c.1013G>T p.G338V Missense 6/16 - 1
2-47643506-A-T c.1014A>T p.G338= Synonymous 6/16 - 1
2-47643506-A-G c.1014A>G p.G338= Synonymous 6/16 - 1
2-47643506-A-C c.1014A>C p.G338= Synonymous 6/16 - 1
2-47643507-C-A c.1015C>A p.Q339K Missense 6/16 - 1
2-47643507-C-G c.1015C>G p.Q339E Missense 6/16 - 1
2-47643508-A-G c.1016A>G p.Q339R Missense 6/16 - 1
2-47643508-A-T c.1016A>T p.Q339L Missense 6/16 - 1
2-47643509-A-C c.1017A>C p.Q339H Missense 6/16 - 1
2-47643509-A-T c.1017A>T p.Q339H Missense 6/16 - 1
2-47643510-A-G c.1018A>G p.R340G Missense 6/16 - 1
2-47643511-G-A c.1019G>A p.R340K Missense 6/16 - 1
2-47643511-G-C c.1019G>C p.R340T Missense 6/16 - 1
2-47643511-G-T c.1019G>T p.R340I Missense 6/16 - 1
2-47643512-A-C c.1020A>C p.R340S Missense 6/16 - 1
2-47643512-A-T c.1020A>T p.R340S Missense 6/16 - 1
2-47643513-CT-GC c.1021_1022delinsGC p.L341A Missense 6/16 - 1
2-47643513-C-A c.1021C>A p.L341I Missense 6/16 - 1
2-47643513-C-G c.1021C>G p.L341V Missense 6/16 - 1
2-47643513-C-T c.1021C>T p.L341F Missense 6/16 - 1
2-47643514-T-A c.1022T>A p.L341H Missense 6/16 - 2
2-47643514-T-C c.1022T>C p.L341P Missense 6/16 - 3
2-47643514-T-G c.1022T>G p.L341R Missense 6/16 - 1
2-47643515-T-G c.1023T>G p.L341= Synonymous 6/16 - 1
2-47643516-TG-T c.1024del p.V342Lfs*15 Frameshift 6/16 - 1
2-47643516-G-A c.1024G>A p.V342I Missense 6/16 - 3
2-47643516-G-C c.1024G>C p.V342L Missense 6/16 - 1
2-47643516-G-T c.1024G>T p.V342F Missense 6/16 - 1
2-47643517-T-A c.1025T>A p.V342D Missense 6/16 - 1
2-47643517-T-C c.1025T>C p.V342A Missense 6/16 - 1
2-47643517-T-G c.1025T>G p.V342G Missense 6/16 - 1
2-47643519-A-C c.1027A>C p.N343H Missense 6/16 - 1
2-47643519-A-G c.1027A>G p.N343D Missense 6/16 - 1
2-47643519-A-T c.1027A>T p.N343Y Missense 6/16 - 1
2-47643520-A-C c.1028A>C p.N343T Missense 6/16 - 1
2-47643520-A-G c.1028A>G p.N343S Missense 6/16 - 1
2-47643520-A-T c.1028A>T p.N343I Missense 6/16 - 1
2-47643521-C-A c.1029C>A p.N343K Missense 6/16 - 1
2-47643521-C-G c.1029C>G p.N343K Missense 6/16 - 1
2-47643522-C-A c.1030C>A p.Q344K Missense 6/16 - 1
2-47643522-C-G c.1030C>G p.Q344E Missense 6/16 - 1
2-47643523-A-C c.1031A>C p.Q344P Missense 6/16 - 1
2-47643523-A-G c.1031A>G p.Q344R Missense 6/16 - 1
2-47643523-A-T c.1031A>T p.Q344L Missense 6/16 - 1
2-47643524-G-C c.1032G>C p.Q344H Missense 6/16 - 1
2-47643524-G-T c.1032G>T p.Q344H Missense 6/16 - 1
2-47643525-T-A c.1033T>A p.W345R Missense 6/16 - 1
2-47643525-T-C c.1033T>C p.W345R Missense 6/16 - 1
2-47643525-T-G c.1033T>G p.W345G Missense 6/16 - 1
2-47643526-G-C c.1034G>C p.W345S Missense 6/16 - 1
2-47643526-G-T c.1034G>T p.W345L Missense 6/16 - 1
2-47643526-G-A c.1034G>A p.W345* Nonsense 6/16 - 2
2-47643527-G-A c.1035G>A p.W345* Nonsense 6/16 - 3
2-47643527-G-C c.1035G>C p.W345C Missense 6/16 - 1
2-47643527-G-T c.1035G>T p.W345C Missense 6/16 - 1
2-47643528-A-C c.1036A>C p.I346L Missense 6/16 - 1
2-47643528-A-G c.1036A>G p.I346V Missense 6/16 - 1
2-47643528-A-T c.1036A>T p.I346F Missense 6/16 - 1
2-47643529-T-A c.1037T>A p.I346N Missense 6/16 - 2
2-47643529-T-C c.1037T>C p.I346T Missense 6/16 - 1
2-47643529-T-G c.1037T>G p.I346S Missense 6/16 - 1
2-47643530-T-G c.1038T>G p.I346M Missense 6/16 - 1
2-47643531-A-C c.1039A>C p.K347Q Missense 6/16 - 1
2-47643531-A-G c.1039A>G p.K347E Missense 6/16 - 1
2-47643532-A-C c.1040A>C p.K347T Missense 6/16 - 1
2-47643532-A-G c.1040A>G p.K347R Missense 6/16 - 1
2-47643532-A-T c.1040A>T p.K347M Missense 6/16 - 1
2-47643533-G-C c.1041G>C p.K347N Missense 6/16 - 1
2-47643533-G-T c.1041G>T p.K347N Missense 6/16 - 1
2-47643534-C-T c.1042C>T p.Q348* Nonsense 6/16 - 5
2-47643534-C-A c.1042C>A p.Q348K Missense 6/16 - 1
2-47643534-C-G c.1042C>G p.Q348E Missense 6/16 - 1
2-47643535-A-G c.1043A>G p.Q348R Missense 6/16 - 2
2-47643535-A-C c.1043A>C p.Q348P Missense 6/16 - 1
2-47643535-A-T c.1043A>T p.Q348L Missense 6/16 - 1
2-47643536-G-C c.1044G>C p.Q348H Missense 6/16 - 1
2-47643537-C-G c.1045C>G p.P349A Missense 6/16 - 8
2-47643537-C-A c.1045C>A p.P349T Missense 6/16 - 2
2-47643537-C-T c.1045C>T p.P349S Missense 6/16 - 2
2-47643538-C-G c.1046C>G p.P349R Missense 6/16 - 14
2-47643538-C-A c.1046C>A p.P349H Missense 6/16 - 2
2-47643538-C-T c.1046C>T p.P349L Missense 6/16 - 8
2-47643540-C-A c.1048C>A p.L350I Missense 6/16 - 1
2-47643540-C-G c.1048C>G p.L350V Missense 6/16 - 3
2-47643540-C-T c.1048C>T p.L350F Missense 6/16 - 1
2-47643541-T-A c.1049T>A p.L350H Missense 6/16 - 1
2-47643541-T-C c.1049T>C p.L350P Missense 6/16 - 1
2-47643541-T-G c.1049T>G p.L350R Missense 6/16 - 1
2-47643537-CCT-C c.1049_1050del p.L350Hfs*3 Frameshift 6/16 - 1
2-47643543-A-G c.1051A>G p.M351V Missense 6/16 - 2
2-47643543-A-C c.1051A>C p.M351L Missense 6/16 - 1
2-47643543-A-T c.1051A>T p.M351L Missense 6/16 - 1
2-47643544-T-A c.1052T>A p.M351K Missense 6/16 - 1
2-47643544-T-C c.1052T>C p.M351T Missense 6/16 - 1
2-47643544-T-G c.1052T>G p.M351R Missense 6/16 - 1
2-47643545-G-A c.1053G>A p.M351I Missense 6/16 - 1
2-47643545-G-C c.1053G>C p.M351I Missense 6/16 - 1
2-47643545-G-T c.1053G>T p.M351I Missense 6/16 - 1
2-47643546-G-A c.1054G>A p.D352N Missense 6/16 - 2
2-47643546-G-C c.1054G>C p.D352H Missense 6/16 - 1
2-47643546-G-T c.1054G>T p.D352Y Missense 6/16 - 1
2-47643547-A-C c.1055A>C p.D352A Missense 6/16 - 1
2-47643547-A-G c.1055A>G p.D352G Missense 6/16 - 1
2-47643547-A-T c.1055A>T p.D352V Missense 6/16 - 1
2-47643548-T-A c.1056T>A p.D352E Missense 6/16 - 1
2-47643548-T-G c.1056T>G p.D352E Missense 6/16 - 1
2-47643549-A-C c.1057A>C p.K353Q Missense 6/16 - 1
2-47643549-A-G c.1057A>G p.K353E Missense 6/16 - 1
2-47643550-A-C c.1058A>C p.K353T Missense 6/16 - 1
2-47643550-A-G c.1058A>G p.K353R Missense 6/16 - 1
2-47643550-A-T c.1058A>T p.K353M Missense 6/16 - 1
2-47643551-G-C c.1059G>C p.K353N Missense 6/16 - 1
2-47643551-G-T c.1059G>T p.K353N Missense 6/16 - 1
2-47643551-AG-A c.1059del p.N354Tfs*3 Frameshift 6/16 - 1
2-47643552-A-C c.1060A>C p.N354H Missense 6/16 - 1
2-47643552-A-G c.1060A>G p.N354D Missense 6/16 - 1
2-47643552-A-T c.1060A>T p.N354Y Missense 6/16 - 1
2-47643553-A-C c.1061A>C p.N354T Missense 6/16 - 1
2-47643553-A-G c.1061A>G p.N354S Missense 6/16 - 1
2-47643553-A-T c.1061A>T p.N354I Missense 6/16 - 1
2-47643554-C-G c.1062C>G p.N354K Missense 6/16 - 2
2-47643554-C-A c.1062C>A p.N354K Missense 6/16 - 1
2-47643549-AAGAAC-A c.1062_1066del p.I356Gfs*31 Frameshift 6/16 - 1
2-47643555-A-G c.1063A>G p.R355G Missense 6/16 - 1
2-47643556-G-A c.1064G>A p.R355K Missense 6/16 - 2
2-47643556-G-C c.1064G>C p.R355T Missense 6/16 - 1
2-47643556-G-T c.1064G>T p.R355I Missense 6/16 - 1
2-47643557-A-C c.1065A>C p.R355S Missense 6/16 - 1
2-47643557-A-T c.1065A>T p.R355S Missense 6/16 - 1
2-47643558-A-C c.1066A>C p.I356L Missense 6/16 - 1
2-47643558-A-T c.1066A>T p.I356L Missense 6/16 - 1
2-47643558-A-G c.1066A>G p.I356V Missense 6/16 - 1
2-47643559-T-A c.1067T>A p.I356K Missense 6/16 - 2
2-47643559-T-C c.1067T>C p.I356T Missense 6/16 - 1
2-47643559-T-G c.1067T>G p.I356R Missense 6/16 - 2
2-47643560-A-G c.1068A>G p.I356M Missense 6/16 - 1
2-47643561-G-A c.1069G>A p.E357K Missense 6/16 - 1
2-47643561-G-C c.1069G>C p.E357Q Missense 6/16 - 1
2-47643562-A-C c.1070A>C p.E357A Missense 6/16 - 1
2-47643562-A-G c.1070A>G p.E357G Missense 6/16 - 1
2-47643562-A-T c.1070A>T p.E357V Missense 6/16 - 1
2-47643563-G-C c.1071G>C p.E357D Missense 6/16 - 1
2-47643563-G-T c.1071G>T p.E357D Missense 6/16 - 1
2-47643564-G-A c.1072G>A p.E358K Missense 6/16 - 1
2-47643564-G-C c.1072G>C p.E358Q Missense 6/16 - 1
2-47643565-A-C c.1073A>C p.E358A Missense 6/16 - 1
2-47643565-A-G c.1073A>G p.E358G Missense 6/16 - 1
2-47643565-A-T c.1073A>T p.E358V Missense 6/16 - 1
2-47643566-G-C c.1074G>C p.E358D Missense 6/16 - 1
2-47643566-G-T c.1074G>T p.E358D Missense 6/16 - 1
2-47643569-G-A c.1076+1G>A - IntronicSNV - 6/15 5
2-47643569-G-T c.1076+1G>T - IntronicSNV - 6/15 1
2-47643606-AC-A c.1076+40del - IntronicDeletion - 6/15 1
2-47645249-G-T c.1076+1681G>T - IntronicSNV - 6/15 6
2-47646968-C-T c.1076+3400C>T - IntronicSNV - 6/15 10
2-47654844-G-T c.1077-2037G>T - IntronicSNV - 6/15 2
2-47656801-G-A c.1077-80G>A - IntronicSNV - 6/15 6
2-47656801-G-T c.1077-80G>T - IntronicSNV - 6/15 6
2-47656871-T-C c.1077-10T>C - IntronicSNV - 6/15 3
2-47656881-GA-G c.1077del p.R359Sfs*2 Frameshift 7/16 - 1
2-47656881-A-T c.1077A>T p.R359S Missense 7/16 - 6
2-47656881-A-C c.1077A>C p.R359S Missense 7/16 - 3
2-47656881-A-ATTTTT c.1079_1080insTTTTT p.L360Ffs*3 SpliceAcceptorInsertion 7/16 - 1
2-47656883-T-C c.1079T>C p.L360S Missense 7/16 - 1
2-47656883-T-G c.1079T>G p.L360W Missense 7/16 - 1
2-47656884-G-C c.1080G>C p.L360F Missense 7/16 - 1
2-47656884-G-T c.1080G>T p.L360F Missense 7/16 - 1
2-47656885-A-C c.1081A>C p.N361H Missense 7/16 - 1
2-47656885-A-G c.1081A>G p.N361D Missense 7/16 - 1
2-47656885-A-T c.1081A>T p.N361Y Missense 7/16 - 1
2-47656886-A-C c.1082A>C p.N361T Missense 7/16 - 2
2-47656886-A-G c.1082A>G p.N361S Missense 7/16 - 1
2-47656886-A-T c.1082A>T p.N361I Missense 7/16 - 1
2-47656884-GA-G c.1082del p.N361Ifs*2 Frameshift 7/16 - 1
2-47656887-T-A c.1083T>A p.N361K Missense 7/16 - 1
2-47656887-T-G c.1083T>G p.N361K Missense 7/16 - 1
2-47656888-T-A c.1084T>A p.L362I Missense 7/16 - 1
2-47656888-T-G c.1084T>G p.L362V Missense 7/16 - 1
2-47656889-T-C c.1085T>C p.L362S Missense 7/16 - 1
2-47656890-A-C c.1086A>C p.L362F Missense 7/16 - 1
2-47656890-A-T c.1086A>T p.L362F Missense 7/16 - 1
2-47656890-TAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTC-T c.1086_1144del p.V363Sfs*6 InFrameDeletion 7/16 - 1
2-47656891-G-A c.1087G>A p.V363M Missense 7/16 - 1
2-47656891-G-C c.1087G>C p.V363L Missense 7/16 - 1
2-47656891-G-T c.1087G>T p.V363L Missense 7/16 - 1
2-47656892-T-C c.1088T>C p.V363A Missense 7/16 - 1
2-47656892-T-G c.1088T>G p.V363G Missense 7/16 - 1
2-47656893-G-T c.1089G>T p.V363= Synonymous 7/16 - 1
2-47656894-G-C c.1090G>C p.E364Q Missense 7/16 - 1
2-47656895-A-G c.1091A>G p.E364G Missense 7/16 - 2
2-47656895-A-C c.1091A>C p.E364A Missense 7/16 - 1
2-47656895-A-T c.1091A>T p.E364V Missense 7/16 - 1
2-47656896-A-C c.1092A>C p.E364D Missense 7/16 - 1
2-47656896-A-T c.1092A>T p.E364D Missense 7/16 - 1
2-47656897-G-A c.1093G>A p.A365T Missense 7/16 - 2
2-47656897-G-C c.1093G>C p.A365P Missense 7/16 - 1
2-47656897-G-T c.1093G>T p.A365S Missense 7/16 - 1
2-47656898-C-G c.1094C>G p.A365G Missense 7/16 - 1
2-47656898-C-T c.1094C>T p.A365V Missense 7/16 - 1
2-47656900-T-C c.1096T>C p.F366L Missense 7/16 - 4
2-47656900-T-A c.1096T>A p.F366I Missense 7/16 - 1
2-47656900-T-G c.1096T>G p.F366V Missense 7/16 - 1
2-47656901-T-A c.1097T>A p.F366Y Missense 7/16 - 1
2-47656901-T-C c.1097T>C p.F366S Missense 7/16 - 1
2-47656901-T-G c.1097T>G p.F366C Missense 7/16 - 1
2-47656902-T-C c.1098T>C p.F366= Synonymous 7/16 - 1
2-47656902-T-A c.1098T>A p.F366L Missense 7/16 - 2
2-47656902-T-G c.1098T>G p.F366L Missense 7/16 - 2
2-47656903-G-A c.1099G>A p.V367I Missense 7/16 - 2
2-47656903-G-C c.1099G>C p.V367L Missense 7/16 - 1
2-47656903-G-T c.1099G>T p.V367L Missense 7/16 - 1
2-47656904-T-A c.1100T>A p.V367E Missense 7/16 - 1
2-47656904-T-C c.1100T>C p.V367A Missense 7/16 - 2
2-47656904-T-G c.1100T>G p.V367G Missense 7/16 - 1
2-47656906-G-A c.1102G>A p.E368K Missense 7/16 - 1
2-47656906-G-C c.1102G>C p.E368Q Missense 7/16 - 1
2-47656907-A-C c.1103A>C p.E368A Missense 7/16 - 1
2-47656907-A-G c.1103A>G p.E368G Missense 7/16 - 1
2-47656907-A-T c.1103A>T p.E368V Missense 7/16 - 1
2-47656908-A-C c.1104A>C p.E368D Missense 7/16 - 1
2-47656908-A-T c.1104A>T p.E368D Missense 7/16 - 1
2-47656909-G-A c.1105G>A p.D369N Missense 7/16 - 1
2-47656909-G-C c.1105G>C p.D369H Missense 7/16 - 1
2-47656909-G-T c.1105G>T p.D369Y Missense 7/16 - 1
2-47656910-A-C c.1106A>C p.D369A Missense 7/16 - 1
2-47656910-A-G c.1106A>G p.D369G Missense 7/16 - 1
2-47656910-A-T c.1106A>T p.D369V Missense 7/16 - 1
2-47656911-T-A c.1107T>A p.D369E Missense 7/16 - 1
2-47656911-T-G c.1107T>G p.D369E Missense 7/16 - 1
2-47656912-G-A c.1108G>A p.A370T Missense 7/16 - 3
2-47656912-G-C c.1108G>C p.A370P Missense 7/16 - 1
2-47656912-G-T c.1108G>T p.A370S Missense 7/16 - 1
2-47656913-C-A c.1109C>A p.A370E Missense 7/16 - 1
2-47656913-C-G c.1109C>G p.A370G Missense 7/16 - 1
2-47656913-C-T c.1109C>T p.A370V Missense 7/16 - 1
2-47656915-G-C c.1111G>C p.E371Q Missense 7/16 - 2
2-47656915-G-A c.1111G>A p.E371K Missense 7/16 - 2
2-47656915-G-T c.1111G>T p.E371* Nonsense 7/16 - 1
2-47656916-A-C c.1112A>C p.E371A Missense 7/16 - 1
2-47656916-A-G c.1112A>G p.E371G Missense 7/16 - 1
2-47656916-A-T c.1112A>T p.E371V Missense 7/16 - 1
2-47656917-A-C c.1113A>C p.E371D Missense 7/16 - 1
2-47656917-A-T c.1113A>T p.E371D Missense 7/16 - 1
2-47656918-T-A c.1114T>A p.L372M Missense 7/16 - 1
2-47656918-T-G c.1114T>G p.L372V Missense 7/16 - 1
2-47656919-T-A c.1115T>A p.L372* Nonsense 7/16 - 1
2-47656919-T-C c.1115T>C p.L372S Missense 7/16 - 1
2-47656919-T-G c.1115T>G p.L372W Missense 7/16 - 1
2-47656920-G-C c.1116G>C p.L372F Missense 7/16 - 1
2-47656920-G-T c.1116G>T p.L372F Missense 7/16 - 1
2-47656921-A-G c.1117A>G p.R373G Missense 7/16 - 1
2-47656921-A-T c.1117A>T p.R373W Missense 7/16 - 1
2-47656922-G-A c.1118G>A p.R373K Missense 7/16 - 1
2-47656922-G-C c.1118G>C p.R373T Missense 7/16 - 1
2-47656923-G-C c.1119G>C p.R373S Missense 7/16 - 1
2-47656923-G-T c.1119G>T p.R373S Missense 7/16 - 1
2-47656924-C-T c.1120C>T p.Q374* Nonsense 7/16 - 2
2-47656924-C-A c.1120C>A p.Q374K Missense 7/16 - 1
2-47656925-A-G c.1121A>G p.Q374R Missense 7/16 - 2
2-47656925-A-C c.1121A>C p.Q374P Missense 7/16 - 1
2-47656925-A-T c.1121A>T p.Q374L Missense 7/16 - 1
2-47656926-G-C c.1122G>C p.Q374H Missense 7/16 - 1
2-47656926-G-T c.1122G>T p.Q374H Missense 7/16 - 1
2-47656927-A-C c.1123A>C p.T375P Missense 7/16 - 1
2-47656927-A-G c.1123A>G p.T375A Missense 7/16 - 1
2-47656927-A-T c.1123A>T p.T375S Missense 7/16 - 1
2-47656928-C-T c.1124C>T p.T375I Missense 7/16 - 2
2-47656928-C-G c.1124C>G p.T375S Missense 7/16 - 2
2-47656928-C-A c.1124C>A p.T375N Missense 7/16 - 1
2-47656928-C-CG c.1124_1125insG p.L376Ffs*13 Frameshift 7/16 - 1
2-47656930-T-A c.1126T>A p.L376I Missense 7/16 - 1
2-47656930-T-G c.1126T>G p.L376V Missense 7/16 - 1
2-47656931-T-C c.1127T>C p.L376S Missense 7/16 - 1
2-47656928-C-CT c.1127dup p.L376Ffs*13 Frameshift 7/16 - 1
2-47656932-A-C c.1128A>C p.L376F Missense 7/16 - 1
2-47656932-A-T c.1128A>T p.L376F Missense 7/16 - 1
2-47656933-C-T c.1129C>T p.Q377* Nonsense 7/16 - 1
2-47656933-C-A c.1129C>A p.Q377K Missense 7/16 - 1
2-47656933-C-G c.1129C>G p.Q377E Missense 7/16 - 1
2-47656934-A-C c.1130A>C p.Q377P Missense 7/16 - 1
2-47656934-A-G c.1130A>G p.Q377R Missense 7/16 - 1
2-47656934-A-T c.1130A>T p.Q377L Missense 7/16 - 1
2-47656935-A-G c.1131A>G p.Q377= Synonymous 7/16 - 2
2-47656935-A-C c.1131A>C p.Q377H Missense 7/16 - 1
2-47656935-A-T c.1131A>T p.Q377H Missense 7/16 - 1
2-47656936-G-A c.1132G>A p.E378K Missense 7/16 - 1
2-47656936-G-C c.1132G>C p.E378Q Missense 7/16 - 1
2-47656937-A-C c.1133A>C p.E378A Missense 7/16 - 1
2-47656937-A-G c.1133A>G p.E378G Missense 7/16 - 1
2-47656937-A-T c.1133A>T p.E378V Missense 7/16 - 1
2-47656938-A-C c.1134A>C p.E378D Missense 7/16 - 1
2-47656938-A-T c.1134A>T p.E378D Missense 7/16 - 1
2-47656939-G-C c.1135G>C p.D379H Missense 7/16 - 1
2-47656939-G-T c.1135G>T p.D379Y Missense 7/16 - 1
2-47656939-AGATTT-A c.1135_1139del p.D379Tfs*8 Frameshift 7/16 - 1
2-47656940-A-C c.1136A>C p.D379A Missense 7/16 - 1
2-47656940-A-G c.1136A>G p.D379G Missense 7/16 - 1
2-47656940-A-T c.1136A>T p.D379V Missense 7/16 - 1
2-47656941-T-A c.1137T>A p.D379E Missense 7/16 - 1
2-47656941-T-G c.1137T>G p.D379E Missense 7/16 - 1
2-47656942-T-A c.1138T>A p.L380I Missense 7/16 - 1
2-47656942-T-G c.1138T>G p.L380V Missense 7/16 - 1
2-47656940-AT-A c.1139del p.L380Yfs*32 Frameshift 7/16 - 1
2-47656943-T-C c.1139T>C p.L380S Missense 7/16 - 1
2-47656944-A-C c.1140A>C p.L380F Missense 7/16 - 1
2-47656944-A-T c.1140A>T p.L380F Missense 7/16 - 1
2-47656944-TA-T c.1140del p.L380Ffs*32 Frameshift 7/16 - 1
2-47656945-C-A c.1141C>A p.L381I Missense 7/16 - 1
2-47656945-C-G c.1141C>G p.L381V Missense 7/16 - 1
2-47656945-C-T c.1141C>T p.L381F Missense 7/16 - 1
2-47656946-T-A c.1142T>A p.L381H Missense 7/16 - 1
2-47656946-T-C c.1142T>C p.L381P Missense 7/16 - 1
2-47656946-T-G c.1142T>G p.L381R Missense 7/16 - 1
2-47656947-T-TA c.1143_1144insA p.R382Tfs*7 Frameshift 7/16 - 2
2-47656943-TACTTCGTCGATTCCCAGATCTTAACCG-T c.1144_1170del p.R382_L390del InFrameDeletion 7/16 - 1
2-47656948-C-A c.1144C>A p.R382S Missense 7/16 - 1
2-47656948-C-G c.1144C>G p.R382G Missense 7/16 - 1
2-47656948-C-T c.1144C>T p.R382C Missense 7/16 - 2
2-47656948-CGT-TGA c.1144_1146delinsTGA p.R382* Nonsense 7/16 - 2
2-47656948-TC-T c.1144del p.R382Vfs*30 Frameshift 7/16 - 1
2-47656949-G-A c.1145G>A p.R382H Missense 7/16 - 4
2-47656949-G-C c.1145G>C p.R382P Missense 7/16 - 1
2-47656949-G-T c.1145G>T p.R382L Missense 7/16 - 1
2-47656951-C-T c.1147C>T p.R383* Nonsense 7/16 - 17
2-47656951-CG-GC c.1147_1148delinsGC p.R383A Missense 7/16 - 1
2-47656951-C-G c.1147C>G p.R383G Missense 7/16 - 1
2-47656951-C-A c.1147C>A p.R383= Synonymous 7/16 - 1
2-47656952-G-T c.1148G>T p.R383L Missense 7/16 - 2
2-47656952-G-A c.1148G>A p.R383Q Missense 7/16 - 1
2-47656952-G-C c.1148G>C p.R383P Missense 7/16 - 1
2-47656954-T-A c.1150T>A p.F384I Missense 7/16 - 1
2-47656954-T-G c.1150T>G p.F384V Missense 7/16 - 1
2-47656953-A-AT c.1151dup p.D386Rfs*3 Frameshift 7/16 - 1
2-47656955-T-A c.1151T>A p.F384Y Missense 7/16 - 2
2-47656955-T-C c.1151T>C p.F384S Missense 7/16 - 1
2-47656955-T-G c.1151T>G p.F384C Missense 7/16 - 1
2-47656957-C-A c.1153C>A p.P385T Missense 7/16 - 1
2-47656957-C-G c.1153C>G p.P385A Missense 7/16 - 1
2-47656957-C-T c.1153C>T p.P385S Missense 7/16 - 1
2-47656958-C-T c.1154C>T p.P385L Missense 7/16 - 2
2-47656958-C-A c.1154C>A p.P385Q Missense 7/16 - 1
2-47656958-C-G c.1154C>G p.P385R Missense 7/16 - 1
2-47656960-G-T c.1156G>T p.D386Y Missense 7/16 - 2
2-47656960-G-A c.1156G>A p.D386N Missense 7/16 - 1
2-47656960-G-C c.1156G>C p.D386H Missense 7/16 - 1
2-47656961-A-C c.1157A>C p.D386A Missense 7/16 - 1
2-47656961-A-G c.1157A>G p.D386G Missense 7/16 - 1
2-47656961-A-T c.1157A>T p.D386V Missense 7/16 - 1
2-47656962-T-G c.1158T>G p.D386E Missense 7/16 - 2
2-47656962-T-A c.1158T>A p.D386E Missense 7/16 - 1
2-47656963-C-A c.1159C>A p.L387I Missense 7/16 - 1
2-47656963-C-G c.1159C>G p.L387V Missense 7/16 - 2
2-47656963-C-T c.1159C>T p.L387F Missense 7/16 - 1
2-47656964-T-A c.1160T>A p.L387H Missense 7/16 - 1
2-47656964-T-C c.1160T>C p.L387P Missense 7/16 - 1
2-47656964-T-G c.1160T>G p.L387R Missense 7/16 - 1
2-47656966-A-C c.1162A>C p.N388H Missense 7/16 - 1
2-47656966-A-G c.1162A>G p.N388D Missense 7/16 - 1
2-47656966-A-T c.1162A>T p.N388Y Missense 7/16 - 1
2-47656967-A-C c.1163A>C p.N388T Missense 7/16 - 1
2-47656967-A-G c.1163A>G p.N388S Missense 7/16 - 1
2-47656967-A-T c.1163A>T p.N388I Missense 7/16 - 1
2-47656968-C-A c.1164C>A p.N388K Missense 7/16 - 1
2-47656968-C-G c.1164C>G p.N388K Missense 7/16 - 1
2-47656969-C-T c.1165C>T p.R389* Nonsense 7/16 - 22
2-47656969-CG-GC c.1165_1166delinsGC p.R389A Missense 7/16 - 1
2-47656969-C-G c.1165C>G p.R389G Missense 7/16 - 2
2-47656970-G-A c.1166G>A p.R389Q Missense 7/16 - 3
2-47656970-G-C c.1166G>C p.R389P Missense 7/16 - 1
2-47656970-G-T c.1166G>T p.R389L Missense 7/16 - 1
2-47656971-A-G c.1167A>G p.R389= Synonymous 7/16 - 1
2-47656972-C-T c.1168C>T p.L390F Missense 7/16 - 22
2-47656972-C-G c.1168C>G p.L390V Missense 7/16 - 2
2-47656972-C-A c.1168C>A p.L390I Missense 7/16 - 1
2-47656973-T-A c.1169T>A p.L390H Missense 7/16 - 1
2-47656973-T-C c.1169T>C p.L390P Missense 7/16 - 1
2-47656973-T-G c.1169T>G p.L390R Missense 7/16 - 1
2-47656975-G-A c.1171G>A p.A391T Missense 7/16 - 1
2-47656975-G-C c.1171G>C p.A391P Missense 7/16 - 1
2-47656975-G-T c.1171G>T p.A391S Missense 7/16 - 1
2-47656976-C-A c.1172C>A p.A391D Missense 7/16 - 1
2-47656976-C-G c.1172C>G p.A391G Missense 7/16 - 1
2-47656976-C-T c.1172C>T p.A391V Missense 7/16 - 1
2-47656978-A-C c.1174A>C p.K392Q Missense 7/16 - 1
2-47656979-A-C c.1175A>C p.K392T Missense 7/16 - 1
2-47656979-A-G c.1175A>G p.K392R Missense 7/16 - 1
2-47656979-A-T c.1175A>T p.K392M Missense 7/16 - 1
2-47656980-G-C c.1176G>C p.K392N Missense 7/16 - 1
2-47656980-G-T c.1176G>T p.K392N Missense 7/16 - 1
2-47656981-AA-GC c.1177_1178delinsGC p.K393A Missense 7/16 - 1
2-47656981-A-C c.1177A>C p.K393Q Missense 7/16 - 1
2-47656982-A-T c.1178A>T p.K393M Missense 7/16 - 4
2-47656982-A-C c.1178A>C p.K393T Missense 7/16 - 1
2-47656982-A-G c.1178A>G p.K393R Missense 7/16 - 1
2-47656983-G-C c.1179G>C p.K393N Missense 7/16 - 1
2-47656983-G-T c.1179G>T p.K393N Missense 7/16 - 1
2-47656984-T-A c.1180T>A p.F394I Missense 7/16 - 1
2-47656984-T-C c.1180T>C p.F394L Missense 7/16 - 2
2-47656984-T-G c.1180T>G p.F394V Missense 7/16 - 1
2-47656985-T-A c.1181T>A p.F394Y Missense 7/16 - 1
2-47656985-T-C c.1181T>C p.F394S Missense 7/16 - 1
2-47656985-T-G c.1181T>G p.F394C Missense 7/16 - 1
2-47656986-T-A c.1182T>A p.F394L Missense 7/16 - 2
2-47656986-T-G c.1182T>G p.F394L Missense 7/16 - 2
2-47656987-CA-GC c.1183_1184delinsGC p.Q395A Missense 7/16 - 1
2-47656987-C-T c.1183C>T p.Q395* Nonsense 7/16 - 3
2-47656987-C-A c.1183C>A p.Q395K Missense 7/16 - 2
2-47656987-C-G c.1183C>G p.Q395E Missense 7/16 - 1
2-47656988-A-C c.1184A>C p.Q395P Missense 7/16 - 1
2-47656988-A-G c.1184A>G p.Q395R Missense 7/16 - 1
2-47656988-A-T c.1184A>T p.Q395L Missense 7/16 - 1
2-47656989-A-C c.1185A>C p.Q395H Missense 7/16 - 1
2-47656989-A-T c.1185A>T p.Q395H Missense 7/16 - 1
2-47656990-A-G c.1186A>G p.R396G Missense 7/16 - 1
2-47656991-G-A c.1187G>A p.R396K Missense 7/16 - 3
2-47656991-G-C c.1187G>C p.R396T Missense 7/16 - 1
2-47656992-A-C c.1188A>C p.R396S Missense 7/16 - 1
2-47656992-A-T c.1188A>T p.R396S Missense 7/16 - 1
2-47656993-C-T c.1189C>T p.Q397* Nonsense 7/16 - 3
2-47656993-C-A c.1189C>A p.Q397K Missense 7/16 - 1
2-47656993-C-G c.1189C>G p.Q397E Missense 7/16 - 1
2-47656994-A-T c.1190A>T p.Q397L Missense 7/16 - 1
2-47656994-A-C c.1190A>C p.Q397P Missense 7/16 - 1
2-47656994-A-G c.1190A>G p.Q397R Missense 7/16 - 1
2-47656995-A-C c.1191A>C p.Q397H Missense 7/16 - 1
2-47656995-A-T c.1191A>T p.Q397H Missense 7/16 - 1
2-47656996-G-A c.1192G>A p.A398T Missense 7/16 - 1
2-47656996-G-C c.1192G>C p.A398P Missense 7/16 - 1
2-47656996-G-T c.1192G>T p.A398S Missense 7/16 - 1
2-47656995-A-AG c.1192dup p.A398Gfs*19 Frameshift 7/16 - 1
2-47656997-C-A c.1193C>A p.A398E Missense 7/16 - 1
2-47656997-C-G c.1193C>G p.A398G Missense 7/16 - 1
2-47656997-C-T c.1193C>T p.A398V Missense 7/16 - 1
2-47656999-G-A c.1195G>A p.A399T Missense 7/16 - 3
2-47656999-G-C c.1195G>C p.A399P Missense 7/16 - 1
2-47656999-G-T c.1195G>T p.A399S Missense 7/16 - 1
2-47656999-GC-AA c.1195_1196delinsAA p.A399K Missense 7/16 - 1
2-47657000-C-T c.1196C>T p.A399V Missense 7/16 - 2
2-47657000-C-A c.1196C>A p.A399E Missense 7/16 - 1
2-47657000-C-G c.1196C>G p.A399G Missense 7/16 - 1
2-47657002-A-C c.1198A>C p.N400H Missense 7/16 - 1
2-47657002-A-G c.1198A>G p.N400D Missense 7/16 - 1
2-47657002-A-T c.1198A>T p.N400Y Missense 7/16 - 1
2-47657003-A-C c.1199A>C p.N400T Missense 7/16 - 1
2-47657003-A-G c.1199A>G p.N400S Missense 7/16 - 1
2-47657003-A-T c.1199A>T p.N400I Missense 7/16 - 1
2-47657004-C-A c.1200C>A p.N400K Missense 7/16 - 1
2-47657004-C-G c.1200C>G p.N400K Missense 7/16 - 1
2-47657005-T-A c.1201T>A p.L401I Missense 7/16 - 1
2-47657005-T-G c.1201T>G p.L401V Missense 7/16 - 1
2-47657006-T-C c.1202T>C p.L401S Missense 7/16 - 1
2-47657006-T-A c.1202T>A p.L401* Nonsense 7/16 - 1
2-47657006-T-G c.1202T>G p.L401* Nonsense 7/16 - 1
2-47657006-T-TA c.1203dup p.Q402Tfs*15 Frameshift 7/16 - 5
2-47657007-A-C c.1203A>C p.L401F Missense 7/16 - 1
2-47657007-A-T c.1203A>T p.L401F Missense 7/16 - 1
2-47657008-C-G c.1204C>G p.Q402E Missense 7/16 - 2
2-47657008-C-T c.1204C>T p.Q402* Nonsense 7/16 - 5
2-47657008-C-A c.1204C>A p.Q402K Missense 7/16 - 1
2-47657008-AC-A c.1204del p.Q402Kfs*10 Frameshift 7/16 - 1
2-47657009-A-C c.1205A>C p.Q402P Missense 7/16 - 1
2-47657009-A-G c.1205A>G p.Q402R Missense 7/16 - 1
2-47657009-A-T c.1205A>T p.Q402L Missense 7/16 - 1
2-47657010-A-C c.1206A>C p.Q402H Missense 7/16 - 1
2-47657010-A-T c.1206A>T p.Q402H Missense 7/16 - 1
2-47657011-G-A c.1207G>A p.D403N Missense 7/16 - 1
2-47657011-G-C c.1207G>C p.D403H Missense 7/16 - 1
2-47657011-G-T c.1207G>T p.D403Y Missense 7/16 - 1
2-47657012-A-C c.1208A>C p.D403A Missense 7/16 - 2
2-47657012-A-G c.1208A>G p.D403G Missense 7/16 - 1
2-47657012-A-T c.1208A>T p.D403V Missense 7/16 - 1
2-47657013-T-A c.1209T>A p.D403E Missense 7/16 - 1
2-47657013-T-G c.1209T>G p.D403E Missense 7/16 - 1
2-47657014-T-A c.1210T>A p.C404S Missense 7/16 - 1
2-47657014-T-C c.1210T>C p.C404R Missense 7/16 - 1
2-47657014-T-G c.1210T>G p.C404G Missense 7/16 - 1
2-47657015-G-C c.1211G>C p.C404S Missense 7/16 - 1
2-47657015-G-A c.1211G>A p.C404Y Missense 7/16 - 1
2-47657015-G-T c.1211G>T p.C404F Missense 7/16 - 1
2-47657016-T-G c.1212T>G p.C404W Missense 7/16 - 1
2-47657015-GT-G c.1213del p.Y405Tfs*7 Frameshift 7/16 - 1
2-47657017-T-A c.1213T>A p.Y405N Missense 7/16 - 1
2-47657017-T-C c.1213T>C p.Y405H Missense 7/16 - 1
2-47657017-T-G c.1213T>G p.Y405D Missense 7/16 - 1
2-47657018-A-C c.1214A>C p.Y405S Missense 7/16 - 1
2-47657018-A-G c.1214A>G p.Y405C Missense 7/16 - 1
2-47657019-C-A c.1215C>A p.Y405* Nonsense 7/16 - 9
2-47657020-C-T c.1216C>T p.R406* Nonsense 7/16 - 21
2-47657020-C-G c.1216C>G p.R406G Missense 7/16 - 1
2-47657021-G-A c.1217G>A p.R406Q Missense 7/16 - 2
2-47657021-G-C c.1217G>C p.R406P Missense 7/16 - 1
2-47657021-G-T c.1217G>T p.R406L Missense 7/16 - 1
2-47657023-C-A c.1219C>A p.L407I Missense 7/16 - 1
2-47657023-C-G c.1219C>G p.L407V Missense 7/16 - 2
2-47657023-C-T c.1219C>T p.L407F Missense 7/16 - 1
2-47657024-T-A c.1220T>A p.L407H Missense 7/16 - 1
2-47657024-T-C c.1220T>C p.L407P Missense 7/16 - 2
2-47657024-T-G c.1220T>G p.L407R Missense 7/16 - 1
2-47657025-C-T c.1221C>T p.L407= Synonymous 7/16 - 2
2-47657025-C-G c.1221C>G p.L407= Synonymous 7/16 - 1
2-47657025-C-A c.1221C>A p.L407= Synonymous 7/16 - 1
2-47657025-C-CT c.1222dup p.Y408Lfs*9 Frameshift 7/16 - 2
2-47657026-T-TTC c.1222_1223insTC p.Y408Ffs*5 Frameshift 7/16 - 1
2-47657026-T-A c.1222T>A p.Y408N Missense 7/16 - 1
2-47657026-T-C c.1222T>C p.Y408H Missense 7/16 - 1
2-47657026-T-G c.1222T>G p.Y408D Missense 7/16 - 1
2-47657027-A-C c.1223A>C p.Y408S Missense 7/16 - 1
2-47657027-A-G c.1223A>G p.Y408C Missense 7/16 - 3
2-47657027-A-T c.1223A>T p.Y408F Missense 7/16 - 1
2-47657028-ATC-A c.1224_1225del p.Y408* Frameshift 7/16 - 1
2-47657029-C-CGA c.1225_1226insGA p.Q409Rfs*4 Frameshift 7/16 - 1
2-47657029-C-T c.1225C>T p.Q409* Nonsense 7/16 - 3
2-47657029-C-A c.1225C>A p.Q409K Missense 7/16 - 3
2-47657029-C-G c.1225C>G p.Q409E Missense 7/16 - 1
2-47657030-A-G c.1226A>G p.Q409R Missense 7/16 - 2
2-47657030-CAG-C c.1226_1227del p.Q409Rfs*7 Frameshift 7/16 - 10
2-47657030-A-C c.1226A>C p.Q409P Missense 7/16 - 1
2-47657030-A-T c.1226A>T p.Q409L Missense 7/16 - 1
2-47657031-G-T c.1227G>T p.Q409H Missense 7/16 - 2
2-47657031-G-C c.1227G>C p.Q409H Missense 7/16 - 2
2-47657032-G-T c.1228G>T p.G410C Missense 7/16 - 2
2-47657032-G-A c.1228G>A p.G410S Missense 7/16 - 1
2-47657032-G-C c.1228G>C p.G410R Missense 7/16 - 1
2-47657030-AG-A c.1229del p.G410Vfs*2 Frameshift 7/16 - 2
2-47657033-G-A c.1229G>A p.G410D Missense 7/16 - 1
2-47657033-G-C c.1229G>C p.G410A Missense 7/16 - 1
2-47657033-G-T c.1229G>T p.G410V Missense 7/16 - 1
2-47657035-A-C c.1231A>C p.I411L Missense 7/16 - 1
2-47657035-A-T c.1231A>T p.I411L Missense 7/16 - 1
2-47657035-A-G c.1231A>G p.I411V Missense 7/16 - 1
2-47657036-T-A c.1232T>A p.I411K Missense 7/16 - 1
2-47657036-T-C c.1232T>C p.I411T Missense 7/16 - 1
2-47657036-T-G c.1232T>G p.I411R Missense 7/16 - 1
2-47657037-A-G c.1233A>G p.I411M Missense 7/16 - 1
2-47657038-A-C c.1234A>C p.N412H Missense 7/16 - 1
2-47657038-A-G c.1234A>G p.N412D Missense 7/16 - 1
2-47657038-A-T c.1234A>T p.N412Y Missense 7/16 - 1
2-47657039-A-C c.1235A>C p.N412T Missense 7/16 - 1
2-47657039-A-G c.1235A>G p.N412S Missense 7/16 - 2
2-47657039-A-T c.1235A>T p.N412I Missense 7/16 - 1
2-47657041-C-A c.1237C>A p.Q413K Missense 7/16 - 1
2-47657041-C-G c.1237C>G p.Q413E Missense 7/16 - 1
2-47657041-C-T c.1237C>T p.Q413* Nonsense 7/16 - 2
2-47657042-A-C c.1238A>C p.Q413P Missense 7/16 - 1
2-47657042-A-G c.1238A>G p.Q413R Missense 7/16 - 1
2-47657042-A-T c.1238A>T p.Q413L Missense 7/16 - 1
2-47657043-A-C c.1239A>C p.Q413H Missense 7/16 - 1
2-47657043-A-T c.1239A>T p.Q413H Missense 7/16 - 1
2-47657044-C-A c.1240C>A p.L414I Missense 7/16 - 1
2-47657044-C-G c.1240C>G p.L414V Missense 7/16 - 1
2-47657045-T-A c.1241T>A p.L414Q Missense 7/16 - 1
2-47657045-T-C c.1241T>C p.L414P Missense 7/16 - 1
2-47657045-T-G c.1241T>G p.L414R Missense 7/16 - 1
2-47657047-C-A c.1243C>A p.P415T Missense 7/16 - 1
2-47657047-C-G c.1243C>G p.P415A Missense 7/16 - 1
2-47657047-C-T c.1243C>T p.P415S Missense 7/16 - 2
2-47657048-C-G c.1244C>G p.P415R Missense 7/16 - 2
2-47657048-C-A c.1244C>A p.P415H Missense 7/16 - 1
2-47657048-C-T c.1244C>T p.P415L Missense 7/16 - 1
2-47657050-A-C c.1246A>C p.N416H Missense 7/16 - 1
2-47657050-A-G c.1246A>G p.N416D Missense 7/16 - 1
2-47657050-A-T c.1246A>T p.N416Y Missense 7/16 - 1
2-47657051-A-C c.1247A>C p.N416T Missense 7/16 - 1
2-47657051-A-G c.1247A>G p.N416S Missense 7/16 - 1
2-47657051-A-T c.1247A>T p.N416I Missense 7/16 - 1
2-47657052-T-A c.1248T>A p.N416K Missense 7/16 - 1
2-47657052-T-G c.1248T>G p.N416K Missense 7/16 - 1
2-47657053-TG-T c.1249del p.V417Lfs*21 Frameshift 7/16 - 3
2-47657050-AATGTT-A c.1249_1253del p.V417Tfs*7 Frameshift 7/16 - 1
2-47657053-G-A c.1249G>A p.V417I Missense 7/16 - 1
2-47657053-G-C c.1249G>C p.V417L Missense 7/16 - 1
2-47657053-G-T c.1249G>T p.V417F Missense 7/16 - 1
2-47657054-T-C c.1250T>C p.V417A Missense 7/16 - 2
2-47657054-T-G c.1250T>G p.V417G Missense 7/16 - 1
2-47657053-G-GT c.1251dup p.I418Yfs*8 Frameshift 7/16 - 1
2-47657056-A-C c.1252A>C p.I418L Missense 7/16 - 2
2-47657056-A-T c.1252A>T p.I418L Missense 7/16 - 1
2-47657056-A-G c.1252A>G p.I418V Missense 7/16 - 1
2-47657057-T-C c.1253T>C p.I418T Missense 7/16 - 2
2-47657057-T-A c.1253T>A p.I418K Missense 7/16 - 1
2-47657057-T-G c.1253T>G p.I418R Missense 7/16 - 1
2-47657059-C-A c.1255C>A p.Q419K Missense 7/16 - 10
2-47657059-C-G c.1255C>G p.Q419E Missense 7/16 - 2
2-47657059-C-T c.1255C>T p.Q419* Nonsense 7/16 - 6
2-47657060-A-C c.1256A>C p.Q419P Missense 7/16 - 1
2-47657060-A-G c.1256A>G p.Q419R Missense 7/16 - 1
2-47657060-A-T c.1256A>T p.Q419L Missense 7/16 - 1
2-47657057-TACAGGCTCTGGAAAAACATGAAGGTA-T c.1257_1276+6del - SpliceDonorDeletion 7/16 7/15 1
2-47657061-G-C c.1257G>C p.Q419H Missense 7/16 - 1
2-47657061-G-T c.1257G>T p.Q419H Missense 7/16 - 1
2-47657062-G-A c.1258G>A p.A420T Missense 7/16 - 1
2-47657062-G-C c.1258G>C p.A420P Missense 7/16 - 1
2-47657062-G-T c.1258G>T p.A420S Missense 7/16 - 1
2-47657063-C-A c.1259C>A p.A420D Missense 7/16 - 1
2-47657063-C-G c.1259C>G p.A420G Missense 7/16 - 1
2-47657063-C-T c.1259C>T p.A420V Missense 7/16 - 1
2-47657064-CTCT-C c.1260_1262del p.L421del InFrameDeletion 7/16 - 1
2-47657065-C-G c.1261C>G p.L421V Missense 7/16 - 2
2-47657065-C-A c.1261C>A p.L421M Missense 7/16 - 2
2-47657065-CT-TC c.1261_1262delinsTC p.L421S Missense 7/16 - 1
2-47657065-C-T c.1261C>T p.L421= Synonymous 7/16 - 1
2-47657066-T-C c.1262T>C p.L421P Missense 7/16 - 1
2-47657066-T-G c.1262T>G p.L421R Missense 7/16 - 1
2-47657068-G-A c.1264G>A p.E422K Missense 7/16 - 1
2-47657068-G-C c.1264G>C p.E422Q Missense 7/16 - 1
2-47657068-G-T c.1264G>T p.E422* Nonsense 7/16 - 1
2-47657069-A-C c.1265A>C p.E422A Missense 7/16 - 1
2-47657069-A-G c.1265A>G p.E422G Missense 7/16 - 1
2-47657069-A-T c.1265A>T p.E422V Missense 7/16 - 1
2-47657070-A-C c.1266A>C p.E422D Missense 7/16 - 1
2-47657070-A-