COL4A5

COL4A5 collagen type IV alpha 5 chain

Annotation transcript: NM_033380.3

3610 unique variant annotations were identified in 973 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
X-107683109-G-C c.-247G>C - 5-UTRSNV 1/53 - 2
X-107683109-G-T c.-247G>T - 5-UTRSNV 1/53 - 2
X-107683356-A-C c.1A>C p.M1? Missense 1/53 - 1
X-107683356-A-G c.1A>G p.M1? Missense 1/53 - 1
X-107683357-ATG-A c.2_3del p.M1? Frameshift 1/53 - 1
X-107683357-T-A c.2T>A p.M1? Missense 1/53 - 1
X-107683358-G-A c.3G>A p.M1? Missense 1/53 - 3
X-107683358-G-C c.3G>C p.M1? Missense 1/53 - 2
X-107683358-G-T c.3G>T p.M1? Missense 1/53 - 2
X-107683359-A-G c.4A>G p.K2E Missense 1/53 - 2
X-107683361-A-G c.6A>G p.K2= Synonymous 1/53 - 1
X-107683362-C-G c.7C>G p.L3V Missense 1/53 - 1
X-107683362-C-T c.7C>T p.L3= Synonymous 1/53 - 2
X-107683364-G-A c.9G>A p.L3= Synonymous 1/53 - 1
X-107683364-G-C c.9G>C p.L3= Synonymous 1/53 - 1
X-107683364-G-T c.9G>T p.L3= Synonymous 1/53 - 1
X-107683365-C-T c.10C>T p.R4C Missense 1/53 - 1
X-107683366-GT-AA c.11_12delinsAA p.R4Q Missense 1/53 - 1
X-107683367-T-A c.12T>A p.R4= Synonymous 1/53 - 1
X-107683367-T-C c.12T>C p.R4= Synonymous 1/53 - 1
X-107683367-T-G c.12T>G p.R4= Synonymous 1/53 - 1
X-107683368-G-T c.13G>T p.G5* Nonsense 1/53 - 3
X-107683376-C-T c.21C>T p.S7= Synonymous 1/53 - 1
X-107683380-G-C c.25G>C p.A9P Missense 1/53 - 1
X-107683381-C-A c.26C>A p.A9D Missense 1/53 - 1
X-107683382-T-A c.27T>A p.A9= Synonymous 1/53 - 1
X-107683382-T-C c.27T>C p.A9= Synonymous 1/53 - 1
X-107683382-T-G c.27T>G p.A9= Synonymous 1/53 - 1
X-107683383-GCC-ATG c.28_30delinsATG p.A10M Missense 1/53 - 1
X-107683383-GC-TG c.28_29delinsTG p.A10C Missense 1/53 - 2
X-107683384-CC-AG c.29_30delinsAG p.A10E Missense 1/53 - 1
X-107683384-C-G c.29C>G p.A10G Missense 1/53 - 2
X-107683385-C-A c.30C>A p.A10= Synonymous 1/53 - 2
X-107683385-C-G c.30C>G p.A10= Synonymous 1/53 - 2
X-107683385-C-T c.30C>T p.A10= Synonymous 1/53 - 3
X-107683386-G-A c.31G>A p.G11S Missense 1/53 - 1
X-107683386-G-T c.31G>T p.G11C Missense 1/53 - 1
X-107683387-G-A c.32G>A p.G11D Missense 1/53 - 2
X-107683387-G-T c.32G>T p.G11V Missense 1/53 - 1
X-107683389-T-A c.34T>A p.L12M Missense 1/53 - 1
X-107683392-T-C c.37T>C p.F13L Missense 1/53 - 1
X-107683392-TT-AA c.37_38inv p.F13N Missense 1/53 - 1
X-107683394-C-A c.39C>A p.F13L Missense 1/53 - 1
X-107683394-C-G c.39C>G p.F13L Missense 1/53 - 1
X-107683395-T-G c.40T>G p.L14V Missense 1/53 - 1
X-107683398-CT-TC c.43_44delinsTC p.L15S Missense 1/53 - 1
X-107683399-T-C c.44T>C p.L15P Missense 1/53 - 1
X-107683401-GC-CA c.46_47delinsCA p.A16H Missense 1/53 - 1
X-107683401-GC-TA c.46_47delinsTA p.A16Y Missense 1/53 - 1
X-107683401-G-T c.46G>T p.A16S Missense 1/53 - 2
X-107683402-C-A c.47C>A p.A16D Missense 1/53 - 1
X-107683402-C-G c.47C>G p.A16G Missense 1/53 - 1
X-107683403-C-A c.48C>A p.A16= Synonymous 1/53 - 1
X-107683403-C-G c.48C>G p.A16= Synonymous 1/53 - 1
X-107683403-C-T c.48C>T p.A16= Synonymous 1/53 - 1
X-107683404-CCT-C c.49_50del p.L17Efs*22 Frameshift 1/53 - 1
X-107683405-CT-C c.50del p.L17Rfs*27 Frameshift 1/53 - 1
X-107683405-T-A c.50T>A p.L17Q Missense 1/53 - 1
X-107683405-TGA-T c.52_53del p.W20Gfs*19 Frameshift 1/53 - 1
X-107683407-AG-GA c.52_53delinsGA p.S18D Missense 1/53 - 2
X-107683407-AG-GC c.52_53delinsGC p.S18A Missense 1/53 - 2
X-107683407-A-T c.52A>T p.S18C Missense 1/53 - 2
X-107683409-T-C c.54T>C p.S18= Synonymous 1/53 - 1
X-107683413-T-A c.58T>A p.W20R Missense 1/53 - 1
X-107683413-T-C c.58T>C p.W20R Missense 1/53 - 1
X-107683414-G-C c.59G>C p.W20S Missense 1/53 - 1
X-107683414-G-T c.59G>T p.W20L Missense 1/53 - 1
X-107683415-G-A c.60G>A p.W20* Nonsense 1/53 - 1
X-107683416-GGG-AGC c.61_63delinsAGC p.G21S Missense 1/53 - 1
X-107683417-G-A c.62G>A p.G21E Missense 1/53 - 9
X-107683416-GGGCAGCCTGCAGA-G c.65_77del p.Q22Lfs*18 Frameshift 1/53 - 1
X-107683418-GCAGC-G c.65_68del p.Q22Lfs*21 Frameshift 1/53 - 1
X-107683420-A-T c.65A>T p.Q22L Missense 1/53 - 1
X-107683421-G-C c.66G>C p.Q22H Missense 1/53 - 1
X-107683421-G-T c.66G>T p.Q22H Missense 1/53 - 1
X-107683422-C-T c.67C>T p.P23S Missense 1/53 - 1
X-107683423-C-A c.68C>A p.P23H Missense 1/53 - 2
X-107683425-G-A c.70G>A p.A24T Missense 1/53 - 1
X-107683425-GCA-TGT c.70_72delinsTGT p.A24C Missense 1/53 - 1
X-107683425-G-T c.70G>T p.A24S Missense 1/53 - 1
X-107683426-CA-AC c.71_72delinsAC p.A24D Missense 1/53 - 2
X-107683428-G-A c.73G>A p.E25K Missense 1/53 - 1
X-107683428-GAG-TTT c.73_75delinsTTT p.E25F Missense 1/53 - 1
X-107683430-G-A c.75G>A p.E25= Synonymous 1/53 - 1
X-107683431-G-A c.76G>A p.A26T Missense 1/53 - 3
X-107683431-GC-TA c.76_77delinsTA p.A26Y Missense 1/53 - 1
X-107683431-GC-TG c.76_77delinsTG p.A26C Missense 1/53 - 1
X-107683432-C-A c.77C>A p.A26D Missense 1/53 - 1
X-107683433-T-A c.78T>A p.A26= Synonymous 1/53 - 3
X-107683433-T-C c.78T>C p.A26= Synonymous 1/53 - 3
X-107683433-T-G c.78T>G p.A26= Synonymous 1/53 - 3
X-107683434-GC-AA c.79_80delinsAA p.A27K Missense 1/53 - 1
X-107683434-GCG-TGT c.79_81delinsTGT p.A27C Missense 1/53 - 1
X-107683435-C-A c.80C>A p.A27E Missense 1/53 - 1
X-107683436-G-A c.81G>A p.A27= Synonymous 1/53 - 4
X-107683436-G-C c.81G>C p.A27= Synonymous 1/53 - 3
X-107683436-G-T c.81G>T p.A27= Synonymous 1/53 - 3
X-107683437-G-C c.81+1G>C - IntronicSNV - 1/52 1
X-107683437-G-T c.81+1G>T - IntronicSNV - 1/52 1
X-107683440-A-C c.81+4A>C - IntronicSNV - 1/52 1
X-107683485-GA-G c.81+52del - IntronicDeletion - 1/52 1
X-107683502-G-C c.81+66G>C - IntronicSNV - 1/52 1
X-107683502-G-T c.81+66G>T - IntronicSNV - 1/52 1
X-107683505-G-C c.81+69G>C - IntronicSNV - 1/52 1
X-107683564-T-C c.81+128T>C - IntronicSNV - 1/52 2
X-107684507-A-G c.81+1071A>G - IntronicSNV - 1/52 1
X-107690996-A-C c.81+7560A>C - IntronicSNV - 1/52 1
X-107692305-C-G c.81+8869C>G - IntronicSNV - 1/52 1
X-107692305-C-T c.81+8869C>T - IntronicSNV - 1/52 1
X-107695404-A-G c.81+11968A>G - IntronicSNV - 1/52 1
X-107696210-A-T c.81+12774A>T - IntronicSNV - 1/52 1
X-107697972-G-A c.81+14536G>A - IntronicSNV - 1/52 1
X-107698970-CT-C c.81+15543del - IntronicDeletion - 1/52 1
X-107699850-CT-C c.81+16423del - IntronicDeletion - 1/52 1
X-107701851-G-A c.81+18415G>A - IntronicSNV - 1/52 1
X-107706848-C-A c.81+23412C>A - IntronicSNV - 1/52 1
X-107707421-A-C c.81+23985A>C - IntronicSNV - 1/52 1
X-107708762-C-T c.81+25326C>T - IntronicSNV - 1/52 1
X-107712404-T-C c.81+28968T>C - IntronicSNV - 1/52 1
X-107717100-G-A c.81+33664G>A - IntronicSNV - 1/52 1
X-107782976-GC-CG c.82_83delinsCG p.A28R Missense 2/53 - 1
X-107782976-G-T c.82G>T p.A28S Missense 2/53 - 3
X-107782975-GGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGACTGCAGTGGCATAAAAGGGGAAAA-G c.83_141del p.A28Gfs*32 InFrameDeletion 2/53 - 1
X-107782979-T-C c.85T>C p.C29R Missense 2/53 - 2
X-107782979-TG-AA c.85_86delinsAA p.C29N Missense 2/53 - 1
X-107782979-TG-AC c.85_86delinsAC p.C29T Missense 2/53 - 1
X-107782980-G-T c.86G>T p.C29F Missense 2/53 - 1
X-107782981-C-A c.87C>A p.C29* Nonsense 2/53 - 3
X-107782981-C-G c.87C>G p.C29W Missense 2/53 - 1
X-107782981-C-T c.87C>T p.C29= Synonymous 2/53 - 1
X-107782983-A-G c.89A>G p.Y30C Missense 2/53 - 2
X-107782984-T-A c.90T>A p.Y30* Nonsense 2/53 - 1
X-107782984-T-G c.90T>G p.Y30* Nonsense 2/53 - 2
X-107782986-G-C c.92G>C p.G31A Missense 2/53 - 1
X-107782988-T-C c.94T>C p.C32R Missense 2/53 - 1
X-107782988-TG-AA c.94_95delinsAA p.C32N Missense 2/53 - 1
X-107782997-G-A c.103G>A p.G35R Missense 2/53 - 1
X-107782999-A-G c.105A>G p.G35= Synonymous 2/53 - 1
X-107783000-TC-AG c.106_107delinsAG p.S36R Missense 2/53 - 1
X-107783001-C-A c.107C>A p.S36* Nonsense 2/53 - 1
X-107783001-CA-GG c.107_108delinsGG p.S36W Missense 2/53 - 1
X-107783001-CA-GT c.107_108delinsGT p.S36C Missense 2/53 - 1
X-107783001-C-G c.107C>G p.S36* Nonsense 2/53 - 3
X-107783001-C-T c.107C>T p.S36L Missense 2/53 - 2
X-107783005-G-A c.111G>A p.K37= Synonymous 2/53 - 1
X-107783008-T-C c.114T>C p.C38= Synonymous 2/53 - 2
X-107783010-A-G c.116A>G p.D39G Missense 2/53 - 1
X-107783012-TG-GC c.118_119delinsGC p.C40A Missense 2/53 - 1
X-107783013-TG-T c.119del p.C40Sfs*4 Frameshift 2/53 - 1
X-107783015-A-C c.121A>C p.S41R Missense 2/53 - 1
X-107783017-T-A c.123T>A p.S41R Missense 2/53 - 1
X-107783017-T-G c.123T>G p.S41R Missense 2/53 - 1
X-107783018-G-A c.124G>A p.G42S Missense 2/53 - 1
X-107783018-G-C c.124G>C p.G42R Missense 2/53 - 1
X-107783019-G-A c.125G>A p.G42D Missense 2/53 - 1
X-107783019-G-C c.125G>C p.G42A Missense 2/53 - 2
X-107783019-G-T c.125G>T p.G42V Missense 2/53 - 1
X-107783021-AT-GC c.127_128delinsGC p.I43A Missense 2/53 - 1
X-107783022-T-C c.128T>C p.I43T Missense 2/53 - 1
X-107783026-A-C c.132A>C p.K44N Missense 2/53 - 1
X-107783027-G-A c.133G>A p.G45R Missense 2/53 - 1
X-107783028-G-A c.134G>A p.G45E Missense 2/53 - 1
X-107783028-G-C c.134G>C p.G45A Missense 2/53 - 1
X-107783028-G-T c.134G>T p.G45V Missense 2/53 - 3
X-107783030-G-A c.136G>A p.E46K Missense 2/53 - 1
X-107783034-A-C c.140A>C p.K47T Missense 2/53 - 1
X-107783035-G-A c.141G>A p.K47= Synonymous 2/53 - 4
X-107783035-G-T c.141G>T p.K47N Missense 2/53 - 1
X-107783036-G-A c.141+1G>A - IntronicSNV - 2/52 4
X-107792070-TA-T c.141+9044del - IntronicDeletion - 2/52 1
X-107802113-C-A c.142-181C>A - IntronicSNV - 2/52 1
X-107802113-C-T c.142-181C>T - IntronicSNV - 2/52 1
X-107802294-G-A c.142G>A p.G48R Missense 3/53 - 3
X-107802295-G-A c.143G>A p.G48E Missense 3/53 - 2
X-107802295-GGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCA-G c.145_203del p.E49Rfs*11 InFrameDeletion 3/53 - 1
X-107802296-A-C c.144A>C p.G48= Synonymous 3/53 - 1
X-107802296-A-G c.144A>G p.G48= Synonymous 3/53 - 1
X-107802296-A-T c.144A>T p.G48= Synonymous 3/53 - 1
X-107802298-A-G c.146A>G p.E49G Missense 3/53 - 1
X-107802299-G-A c.147G>A p.E49= Synonymous 3/53 - 1
X-107802300-AGA-CAT c.148_150delinsCAT p.R50H Missense 3/53 - 1
X-107802301-G-C c.149G>C p.R50T Missense 3/53 - 1
X-107802304-G-T c.152G>T p.G51V Missense 3/53 - 2
X-107802306-GTTT-G c.154_156del p.F52del InFrameDeletion 3/53 - 3
X-107802307-T-A c.155T>A p.F52Y Missense 3/53 - 1
X-107802308-T-C c.156T>C p.F52= Synonymous 3/53 - 1
X-107802309-C-T c.157C>T p.P53S Missense 3/53 - 3
X-107802313-G-A c.161G>A p.G54D Missense 3/53 - 4
X-107802315-TT-CC c.163_164delinsCC p.L55P Missense 3/53 - 1
X-107802316-T-G c.164T>G p.L55W Missense 3/53 - 1
X-107802317-G-C c.165G>C p.L55F Missense 3/53 - 1
X-107802317-G-T c.165G>T p.L55F Missense 3/53 - 1
X-107802318-G-A c.166G>A p.E56K Missense 3/53 - 1
X-107802318-G-T c.166G>T p.E56* Nonsense 3/53 - 4
X-107802322-G-A c.170G>A p.G57E Missense 3/53 - 2
X-107802322-GA-AC c.170_171delinsAC p.G57D Missense 3/53 - 1
X-107802324-C-T c.172C>T p.H58Y Missense 3/53 - 3
X-107802328-C-T c.176C>T p.P59L Missense 3/53 - 1
X-107802330-G-A c.178G>A p.G60R Missense 3/53 - 2
X-107802330-G-T c.178G>T p.G60* Nonsense 3/53 - 1
X-107802331-G-A c.179G>A p.G60E Missense 3/53 - 1
X-107802333-T-A c.181T>A p.L61M Missense 3/53 - 1
X-107802335-G-C c.183G>C p.L61F Missense 3/53 - 1
X-107802335-G-T c.183G>T p.L61F Missense 3/53 - 1
X-107802339-G-A c.187G>A p.G63R Missense 3/53 - 3
X-107802339-GGA-AGC c.187_189delinsAGC p.G63S Missense 3/53 - 1
X-107802339-G-T c.187G>T p.G63* Nonsense 3/53 - 1
X-107802338-T-TG c.188dup p.F64Ifs*16 Frameshift 3/53 - 1
X-107802340-G-A c.188G>A p.G63E Missense 3/53 - 3
X-107802346-C-T c.194C>T p.P65L Missense 3/53 - 1
X-107802347-A-C c.195A>C p.P65= Synonymous 3/53 - 1
X-107802347-A-G c.195A>G p.P65= Synonymous 3/53 - 1
X-107802347-A-T c.195A>T p.P65= Synonymous 3/53 - 1
X-107802348-G-A c.196G>A p.G66S Missense 3/53 - 1
X-107802349-G-A c.197G>A p.G66D Missense 3/53 - 1
X-107802349-G-T c.197G>T p.G66V Missense 3/53 - 3
X-107802352-C-G c.200C>G p.P67R Missense 3/53 - 1
X-107802355-A-G c.203A>G p.E68G Missense 3/53 - 1
X-107802357-G-C c.205G>C p.G69R Missense 3/53 - 2
X-107802360-C-T c.208C>T p.P70S Missense 3/53 - 1
X-107802361-C-G c.209C>G p.P70R Missense 3/53 - 1
X-107802363-C-T c.211C>T p.P71S Missense 3/53 - 1
X-107802365-G-T c.213G>T p.P71= Synonymous 3/53 - 1
X-107802370-C-G c.218C>G p.P73R Missense 3/53 - 1
X-107802372-C-G c.220C>G p.R74G Missense 3/53 - 1
X-107802372-CG-AA c.220_221delinsAA p.R74K Missense 3/53 - 1
X-107802372-CGG-GAC c.220_222delinsGAC p.R74D Missense 3/53 - 1
X-107802372-C-T c.220C>T p.R74W Missense 3/53 - 7
X-107802373-G-A c.221G>A p.R74Q Missense 3/53 - 1
X-107802373-G-T c.221G>T p.R74L Missense 3/53 - 1
X-107802374-G-A c.222G>A p.R74= Synonymous 3/53 - 3
X-107802376-G-T c.224G>T p.G75V Missense 3/53 - 1
X-107802377-GA-G c.225del p.Q76Kfs*79 Frameshift 3/53 - 1
X-107802378-C-A c.226C>A p.Q76K Missense 3/53 - 1
X-107802378-C-T c.226C>T p.Q76* Nonsense 3/53 - 1
X-107802382-A-C c.230A>C p.K77T Missense 3/53 - 1
X-107802382-A-G c.230A>G p.K77R Missense 3/53 - 1
X-107802384-G-A c.231+1G>A - IntronicSNV - 3/52 1
X-107802385-T-A c.231+2T>A - IntronicSNV - 3/52 1
X-107802385-T-C c.231+2T>C - IntronicSNV - 3/52 2
X-107803329-G-A c.231+946G>A - IntronicSNV - 3/52 1
X-107807095-A-C c.232-17A>C - IntronicSNV - 3/52 3
X-107807112-G-C c.232G>C p.G78R Missense 4/53 - 1
X-107807113-G-A c.233G>A p.G78D Missense 4/53 - 1
X-107807113-G-C c.233G>C p.G78A Missense 4/53 - 1
X-107807116-A-G c.236A>G p.D79G Missense 4/53 - 1
X-107807116-A-T c.236A>T p.D79V Missense 4/53 - 1
X-107807118-G-A c.238G>A p.D80N Missense 4/53 - 4
X-107807121-G-A c.241G>A p.G81R Missense 4/53 - 5
X-107807121-G-C c.241G>C p.G81R Missense 4/53 - 2
X-107807122-G-A c.242G>A p.G81E Missense 4/53 - 7
X-107807124-AT-GC c.244_245delinsGC p.I82A Missense 4/53 - 1
X-107807125-T-C c.245T>C p.I82T Missense 4/53 - 1
X-107807126-T-A c.246T>A p.I82= Synonymous 4/53 - 1
X-107807128-C-A c.248C>A p.P83Q Missense 4/53 - 1
X-107807130-G-A c.250G>A p.G84R Missense 4/53 - 1
X-107807130-G-C c.250G>C p.G84R Missense 4/53 - 1
X-107807131-G-A c.251G>A p.G84E Missense 4/53 - 1
X-107807131-G-T c.251G>T p.G84V Missense 4/53 - 1
X-107807129-AG-A c.252del p.P85Hfs*70 Frameshift 4/53 - 1
X-107807133-C-A c.253C>A p.P85T Missense 4/53 - 5
X-107807133-C-T c.253C>T p.P85S Missense 4/53 - 4
X-107807134-C-A c.254C>A p.P85Q Missense 4/53 - 2
X-107807135-A-T c.255A>T p.P85= Synonymous 4/53 - 1
X-107807136-C-A c.256C>A p.P86T Missense 4/53 - 1
X-107807136-C-T c.256C>T p.P86S Missense 4/53 - 1
X-107807142-C-A c.262C>A p.P88T Missense 4/53 - 2
X-107807142-C-T c.262C>T p.P88S Missense 4/53 - 2
X-107807143-C-T c.263C>T p.P88L Missense 4/53 - 1
X-107807148-G-A c.268G>A p.G90R Missense 4/53 - 5
X-107807148-G-C c.268G>C p.G90R Missense 4/53 - 2
X-107807148-GGA-AGC c.268_270delinsAGC p.G90S Missense 4/53 - 1
X-107807149-G-A c.269G>A p.G90E Missense 4/53 - 1
X-107807151-A-T c.271A>T p.I91F Missense 4/53 - 3
X-107807154-AGA-CAT c.274_276delinsCAT p.R92H Missense 4/53 - 1
X-107807154-AGA-GAC c.274_276delinsGAC p.R92D Missense 4/53 - 1
X-107807154-AG-CA c.274_275delinsCA p.R92Q Missense 4/53 - 1
X-107807161-G-A c.276+5G>A - IntronicSNV - 4/52 1
X-107807161-G-T c.276+5G>T - IntronicSNV - 4/52 1
X-107807225-T-C c.276+69T>C - IntronicSNV - 4/52 1
X-107811859-G-T c.277G>T p.G93C Missense 5/53 - 1
X-107811860-G-A c.278G>A p.G93D Missense 5/53 - 1
X-107811860-G-C c.278G>C p.G93A Missense 5/53 - 5
X-107811860-GT-AG c.278_279delinsAG p.G93E Missense 5/53 - 2
X-107811862-C-A c.280C>A p.P94T Missense 5/53 - 1
X-107811862-C-T c.280C>T p.P94S Missense 5/53 - 3
X-107811863-C-T c.281C>T p.P94L Missense 5/53 - 1
X-107811868-G-A c.286G>A p.G96R Missense 5/53 - 2
X-107811869-G-C c.287G>C p.G96A Missense 5/53 - 1
X-107811869-G-T c.287G>T p.G96V Missense 5/53 - 2
X-107811873-TC-T c.293del p.P98Lfs*57 Frameshift 5/53 - 1
X-107811875-C-T c.293C>T p.P98L Missense 5/53 - 1
X-107811877-G-A c.295G>A p.G99R Missense 5/53 - 2
X-107811877-G-C c.295G>C p.G99R Missense 5/53 - 1
X-107811878-G-A c.296G>A p.G99E Missense 5/53 - 4
X-107811878-G-T c.296G>T p.G99V Missense 5/53 - 1
X-107811883-C-T c.301C>T p.P101S Missense 5/53 - 1
X-107811886-G-A c.304G>A p.G102R Missense 5/53 - 2
X-107811886-G-C c.304G>C p.G102R Missense 5/53 - 1
X-107811887-G-T c.305G>T p.G102V Missense 5/53 - 3
X-107811890-C-T c.308C>T p.T103I Missense 5/53 - 1
X-107811892-C-G c.310C>G p.P104A Missense 5/53 - 1
X-107811891-AC-A c.311del p.P104Qfs*51 Frameshift 5/53 - 1
X-107811893-C-G c.311C>G p.P104R Missense 5/53 - 1
X-107811895-G-C c.313G>C p.G105R Missense 5/53 - 3
X-107811896-G-A c.314G>A p.G105D Missense 5/53 - 1
X-107811896-G-C c.314G>C p.G105A Missense 5/53 - 2
X-107811898-C-T c.316C>T p.L106F Missense 5/53 - 2
X-107811901-C-T c.319C>T p.P107S Missense 5/53 - 5
X-107811902-C-G c.320C>G p.P107R Missense 5/53 - 1
X-107811902-C-T c.320C>T p.P107L Missense 5/53 - 2
X-107811905-T-G c.321+2T>G - IntronicSNV - 5/52 1
X-107811978-G-A c.322-11G>A - IntronicSNV - 5/52 1
X-107811989-G-A c.322G>A p.G108R Missense 6/53 - 4
X-107811989-G-C c.322G>C p.G108R Missense 6/53 - 2
X-107811990-G-A c.323G>A p.G108E Missense 6/53 - 5
X-107811992-A-C c.325A>C p.M109L Missense 6/53 - 1
X-107811992-A-T c.325A>T p.M109L Missense 6/53 - 1
X-107811994-G-A c.327G>A p.M109I Missense 6/53 - 1
X-107811994-G-C c.327G>C p.M109I Missense 6/53 - 1
X-107811994-G-T c.327G>T p.M109I Missense 6/53 - 1
X-107811998-G-C c.331G>C p.G111R Missense 6/53 - 1
X-107811998-G-GCA c.331_332insCA p.G111Afs*45 Frameshift 6/53 - 1
X-107811999-G-A c.332G>A p.G111D Missense 6/53 - 1
X-107812000-C-A c.333C>A p.G111= Synonymous 6/53 - 1
X-107812000-C-G c.333C>G p.G111= Synonymous 6/53 - 1
X-107812000-C-T c.333C>T p.G111= Synonymous 6/53 - 2
X-107812001-C-G c.334C>G p.H112D Missense 6/53 - 1
X-107812002-A-G c.335A>G p.H112R Missense 6/53 - 1
X-107812004-G-A c.337G>A p.D113N Missense 6/53 - 2
X-107812007-G-A c.340G>A p.G114R Missense 6/53 - 1
X-107812007-GGG-AGC c.340_342delinsAGC p.G114S Missense 6/53 - 2
X-107812008-G-A c.341G>A p.G114E Missense 6/53 - 1
X-107812008-G-C c.341G>C p.G114A Missense 6/53 - 2
X-107812010-G-A c.343G>A p.A115T Missense 6/53 - 4
X-107812011-C-T c.344C>T p.A115V Missense 6/53 - 2
X-107812010-GC-G c.347del p.P116Qfs*39 Frameshift 6/53 - 1
X-107812015-A-ATCCGG c.348_349insTCCGG p.G117Sfs*40 Frameshift 6/53 - 1
X-107812016-G-T c.349G>T p.G117* Nonsense 6/53 - 1
X-107812017-G-A c.350G>A p.G117E Missense 6/53 - 2
X-107812017-G-T c.350G>T p.G117V Missense 6/53 - 1
X-107812014-CAGGACCTCA-C c.351_359del p.P118_G120del InFrameDeletion 6/53 - 2
X-107812019-C-G c.352C>G p.P118A Missense 6/53 - 1
X-107812020-CT-AA c.353_354delinsAA p.P118Q Missense 6/53 - 1
X-107812024-A-C c.357A>C p.Q119H Missense 6/53 - 1
X-107812024-A-T c.357A>T p.Q119H Missense 6/53 - 1
X-107812025-G-A c.358G>A p.G120S Missense 6/53 - 1
X-107812026-G-A c.359G>A p.G120D Missense 6/53 - 2
X-107812028-A-G c.361A>G p.I121V Missense 6/53 - 1
X-107812031-C-CAGCT c.364_365insAGCT p.P122Qfs*37 Frameshift 6/53 - 1
X-107812034-G-A c.367G>A p.G123R Missense 6/53 - 5
X-107812034-GGA-AGC c.367_369delinsAGC p.G123S Missense 6/53 - 1
X-107812033-CG-C c.368del p.G123Dfs*32 Frameshift 6/53 - 2
X-107812035-G-A c.368G>A p.G123E Missense 6/53 - 3
X-107812035-G-T c.368G>T p.G123V Missense 6/53 - 1
X-107812040-A-G c.373A>G p.N125D Missense 6/53 - 1
X-107812041-A-G c.374A>G p.N125S Missense 6/53 - 1
X-107812044-G-A c.377G>A p.G126E Missense 6/53 - 2
X-107812048-C-T c.381C>T p.T127= Synonymous 6/53 - 3
X-107812051-G-A c.384G>A p.K128= Synonymous 6/53 - 1
X-107812052-G-A c.384+1G>A - IntronicSNV - 6/52 2
X-107812158-G-A c.384+107G>A - IntronicSNV - 6/52 1
X-107814546-G-A c.385-97G>A - IntronicSNV - 6/52 2
X-107814643-G-A c.385G>A p.G129R Missense 7/53 - 5
X-107814644-G-A c.386G>A p.G129E Missense 7/53 - 5
X-107814644-G-T c.386G>T p.G129V Missense 7/53 - 4
X-107814646-GAA-TAT c.388_390delinsTAT p.E130Y Missense 7/53 - 1
X-107814646-G-C c.388G>C p.E130Q Missense 7/53 - 1
X-107814646-G-T c.388G>T p.E130* Nonsense 7/53 - 2
X-107814647-A-G c.389A>G p.E130G Missense 7/53 - 1
X-107814648-A-C c.390A>C p.E130D Missense 7/53 - 1
X-107814648-A-T c.390A>T p.E130D Missense 7/53 - 2
X-107814649-C-A c.391C>A p.R131S Missense 7/53 - 1
X-107814649-CG-GC c.391_392delinsGC p.R131A Missense 7/53 - 1
X-107814649-C-T c.391C>T p.R131C Missense 7/53 - 1
X-107814650-G-A c.392G>A p.R131H Missense 7/53 - 4
X-107814652-G-A c.394G>A p.G132R Missense 7/53 - 2
X-107814652-G-T c.394G>T p.G132* Nonsense 7/53 - 2
X-107814653-G-A c.395G>A p.G132E Missense 7/53 - 3
X-107814653-G-T c.395G>T p.G132V Missense 7/53 - 2
X-107814658-C-T c.400C>T p.P134S Missense 7/53 - 9
X-107814662-G-A c.404G>A p.G135D Missense 7/53 - 3
X-107814662-G-T c.404G>T p.G135V Missense 7/53 - 5
X-107814664-A-G c.406A>G p.S136G Missense 7/53 - 1
X-107814668-C-A c.410C>A p.P137H Missense 7/53 - 1
X-107814669-C-A c.411C>A p.P137= Synonymous 7/53 - 2
X-107814669-C-G c.411C>G p.P137= Synonymous 7/53 - 3
X-107814670-G-A c.412G>A p.G138S Missense 7/53 - 3
X-107814670-G-T c.412G>T p.G138C Missense 7/53 - 7
X-107814671-G-A c.413G>A p.G138D Missense 7/53 - 1
X-107814671-G-C c.413G>C p.G138A Missense 7/53 - 1
X-107814675-T-A c.417T>A p.F139L Missense 7/53 - 1
X-107814676-C-G c.418C>G p.P140A Missense 7/53 - 1
X-107814676-C-T c.418C>T p.P140S Missense 7/53 - 4
X-107814677-C-T c.419C>T p.P140L Missense 7/53 - 1
X-107814679-G-A c.421G>A p.G141S Missense 7/53 - 3
X-107814679-GGTTTACA-G c.423_429del p.L142Vfs*11 Frameshift 7/53 - 1
X-107814683-T-C c.425T>C p.L142S Missense 7/53 - 1
X-107814685-C-T c.427C>T p.Q143* Nonsense 7/53 - 1
X-107814688-G-A c.430G>A p.G144S Missense 7/53 - 3
X-107814688-G-C c.430G>C p.G144R Missense 7/53 - 2
X-107814689-G-A c.431G>A p.G144D Missense 7/53 - 4
X-107814689-G-C c.431G>C p.G144A Missense 7/53 - 1
X-107814691-C-T c.433C>T p.P145S Missense 7/53 - 3
X-107814694-C-A c.436C>A p.P146T Missense 7/53 - 2
X-107814694-C-T c.436C>T p.P146S Missense 7/53 - 3
X-107814697-G-A c.438+1G>A - IntronicSNV - 7/52 1
X-107814698-T-C c.438+2T>C - IntronicSNV - 7/52 2
X-107814701-G-A c.438+5G>A - IntronicSNV - 7/52 3
X-107814732-G-T c.438+36G>T - IntronicSNV - 7/52 1
X-107815041-G-A c.439G>A p.G147R Missense 8/53 - 1
X-107815041-GGA-AGC c.439_441delinsAGC p.G147S Missense 8/53 - 1
X-107815041-G-T c.439G>T p.G147* Nonsense 8/53 - 2
X-107815039-AG-A c.440del p.G147Dfs*8 Frameshift 8/53 - 2
X-107815042-G-A c.440G>A p.G147E Missense 8/53 - 7
X-107815042-G-C c.440G>C p.G147A Missense 8/53 - 1
X-107815042-G-T c.440G>T p.G147V Missense 8/53 - 1
X-107815043-A-C c.441A>C p.G147= Synonymous 8/53 - 1
X-107815043-A-G c.441A>G p.G147= Synonymous 8/53 - 1
X-107815043-A-T c.441A>T p.G147= Synonymous 8/53 - 1
X-107815044-C-T c.442C>T p.P148S Missense 8/53 - 1
X-107815045-C-A c.443C>A p.P148H Missense 8/53 - 1
X-107815045-C-T c.443C>T p.P148L Missense 8/53 - 2
X-107815047-C-G c.445C>G p.P149A Missense 8/53 - 1
X-107815043-A-AC c.446dup p.G150Wfs*8 Frameshift 8/53 - 2
X-107815043-AC-A c.446del p.P149Lfs*6 Frameshift 8/53 - 4
X-107815048-C-T c.446C>T p.P149L Missense 8/53 - 2
X-107815050-G-A c.448G>A p.G150R Missense 8/53 - 1
X-107815050-G-C c.448G>C p.G150R Missense 8/53 - 1
X-107815050-G-T c.448G>T p.G150W Missense 8/53 - 1
X-107815051-G-A c.449G>A p.G150E Missense 8/53 - 1
X-107815053-A-G c.451A>G p.I151V Missense 8/53 - 1
X-107815054-T-C c.452T>C p.I151T Missense 8/53 - 1
X-107815055-C-T c.453C>T p.I151= Synonymous 8/53 - 2
X-107815056-C-T c.454C>T p.P152S Missense 8/53 - 1
X-107815057-C-G c.455C>G p.P152R Missense 8/53 - 2
X-107815057-C-T c.455C>T p.P152L Missense 8/53 - 1
X-107815059-G-A c.457G>A p.G153S Missense 8/53 - 1
X-107815060-G-A c.458G>A p.G153D Missense 8/53 - 2
X-107815060-G-T c.458G>T p.G153V Missense 8/53 - 2
X-107815064-G-A c.462G>A p.M154I Missense 8/53 - 8
X-107815064-G-C c.462G>C p.M154I Missense 8/53 - 2
X-107815064-G-T c.462G>T p.M154I Missense 8/53 - 2
X-107815067-G-C c.465G>C p.K155N Missense 8/53 - 1
X-107816804-G-C c.466G>C p.G156R Missense 9/53 - 2
X-107816804-G-T c.466G>T p.G156C Missense 9/53 - 1
X-107816805-G-A c.467G>A p.G156D Missense 9/53 - 4
X-107816805-G-C c.467G>C p.G156A Missense 9/53 - 1
X-107816805-G-T c.467G>T p.G156V Missense 9/53 - 1
X-107816806-T-G c.468T>G p.G156= Synonymous 9/53 - 1
X-107816807-G-T c.469G>T p.E157* Nonsense 9/53 - 1
X-107816812-AG-A c.476del p.G159Vfs*3 Frameshift 9/53 - 1
X-107816814-G-T c.476G>T p.G159V Missense 9/53 - 1
X-107816817-G-A c.479G>A p.S160N Missense 9/53 - 2
X-107816818-T-C c.480T>C p.S160= Synonymous 9/53 - 1
X-107816820-T-A c.482T>A p.I161K Missense 9/53 - 1
X-107816823-T-C c.485T>C p.I162T Missense 9/53 - 1
X-107816825-A-G c.487A>G p.M163V Missense 9/53 - 3
X-107816826-T-C c.488T>C p.M163T Missense 9/53 - 3
X-107816826-T-G c.488T>G p.M163R Missense 9/53 - 1
X-107816831-T-C c.493T>C p.S165P Missense 9/53 - 1
X-107816837-C-T c.499C>T p.P167S Missense 9/53 - 4
X-107816836-GC-G c.500del p.P167Qfs*36 Frameshift 9/53 - 3
X-107816838-C-A c.500C>A p.P167Q Missense 9/53 - 3
X-107816840-G-A c.502G>A p.G168R Missense 9/53 - 1
X-107816840-G-C c.502G>C p.G168R Missense 9/53 - 1
X-107816840-GGA-TGT c.502_504delinsTGT p.G168C Missense 9/53 - 1
X-107816843-C-T c.505C>T p.P169S Missense 9/53 - 4
X-107816848-G-A c.510G>A p.K170= Synonymous 9/53 - 2
X-107816849-G-C c.511G>C p.G171R Missense 9/53 - 2
X-107816853-A-G c.515A>G p.N172S Missense 9/53 - 1
X-107816856-C-A c.518C>A p.P173Q Missense 9/53 - 1
X-107816858-G-A c.520G>A p.G174R Missense 9/53 - 1
X-107816858-G-C c.520G>C p.G174R Missense 9/53 - 5
X-107816859-G-A c.521G>A p.G174E Missense 9/53 - 2
X-107816860-A-C c.522A>C p.G174= Synonymous 9/53 - 1
X-107816860-A-G c.522A>G p.G174= Synonymous 9/53 - 1
X-107816860-A-T c.522A>T p.G174= Synonymous 9/53 - 1
X-107816863-AT-A c.525del p.P176Qfs*27 Frameshift 9/53 - 2
X-107816864-C-T c.526C>T p.P176S Missense 9/53 - 3
X-107816865-C-T c.527C>T p.P176L Missense 9/53 - 1
X-107816867-G-C c.529G>C p.G177R Missense 9/53 - 3
X-107816867-G-T c.529G>T p.G177C Missense 9/53 - 3
X-107816868-G-A c.530G>A p.G177D Missense 9/53 - 1
X-107816869-T-C c.531T>C p.G177= Synonymous 9/53 - 1
X-107816869-TC-T c.533del p.P178Lfs*25 Frameshift 9/53 - 1
X-107816871-C-T c.533C>T p.P178L Missense 9/53 - 1
X-107816873-C-G c.535C>G p.P179A Missense 9/53 - 1
X-107816873-C-T c.535C>T p.P179S Missense 9/53 - 5
X-107816874-C-T c.536C>T p.P179L Missense 9/53 - 2
X-107816876-G-A c.538G>A p.G180R Missense 9/53 - 2
X-107816876-G-C c.538G>C p.G180R Missense 9/53 - 1
X-107816877-G-A c.539G>A p.G180E Missense 9/53 - 1
X-107816878-A-C c.540A>C p.G180= Synonymous 9/53 - 1
X-107816878-A-G c.540A>G p.G180= Synonymous 9/53 - 1
X-107816878-A-T c.540A>T p.G180= Synonymous 9/53 - 1
X-107816880-TACAAGTA-T c.544_546+4del - SpliceDonorDeletion 9/53 9/52 1
X-107816882-CAA-TGT c.544_546delinsTGT p.Q182C Missense 9/53 - 1
X-107816882-C-T c.544C>T p.Q182* Nonsense 9/53 - 2
X-107816883-A-T c.545A>T p.Q182L Missense 9/53 - 1
X-107816883-CAA-C c.545_546del p.Q182Rfs*33 SpliceDonorDeletion 9/53 - 1
X-107816885-G-A c.546+1G>A - IntronicSNV - 9/52 1
X-107816885-G-GT c.546+2dup - IntronicInsertion - 9/52 1
X-107816886-T-C c.546+2T>C - IntronicSNV - 9/52 1
X-107816889-G-C c.546+5G>C - IntronicSNV - 9/52 1
X-107819140-G-A c.547G>A p.G183S Missense 10/53 - 3
X-107819138-A-AG c.548dup p.L184Pfs*32 SpliceAcceptorInsertion 10/53 - 1
X-107819141-G-T c.548G>T p.G183V Missense 10/53 - 4
X-107819142-C-T c.549C>T p.G183= Synonymous 10/53 - 3
X-107819141-G-GC c.550dup p.L184Pfs*32 Frameshift 10/53 - 1
X-107819147-C-G c.554C>G p.P185R Missense 10/53 - 1
X-107819147-C-T c.554C>T p.P185L Missense 10/53 - 1
X-107819149-G-A c.556G>A p.G186S Missense 10/53 - 1
X-107819149-G-C c.556G>C p.G186R Missense 10/53 - 2
X-107819150-G-A c.557G>A p.G186D Missense 10/53 - 1
X-107819152-C-T c.559C>T p.P187S Missense 10/53 - 1
X-107819154-C-A c.561C>A p.P187= Synonymous 10/53 - 1
X-107819154-C-G c.561C>G p.P187= Synonymous 10/53 - 1
X-107819154-C-T c.561C>T p.P187= Synonymous 10/53 - 1
X-107819159-G-T c.566G>T p.G189V Missense 10/53 - 1
X-107819161-A-G c.568A>G p.I190V Missense 10/53 - 2
X-107819167-G-A c.574G>A p.G192R Missense 10/53 - 4
X-107819167-G-C c.574G>C p.G192R Missense 10/53 - 2
X-107819167-G-T c.574G>T p.G192W Missense 10/53 - 2
X-107819168-G-A c.575G>A p.G192E Missense 10/53 - 1
X-107819166-A-AG c.576dup p.P193Afs*23 Frameshift 10/53 - 1
X-107819169-G-A c.576G>A p.G192= Synonymous 10/53 - 1
X-107819171-C-T c.578C>T p.P193L Missense 10/53 - 1
X-107819173-A-G c.580A>G p.I194V Missense 10/53 - 3
X-107819174-T-C c.581T>C p.I194T Missense 10/53 - 1
X-107819176-G-T c.583G>T p.G195C Missense 10/53 - 1
X-107819177-G-A c.584G>A p.G195D Missense 10/53 - 4
X-107819177-G-C c.584G>C p.G195A Missense 10/53 - 1
X-107819177-G-T c.584G>T p.G195V Missense 10/53 - 4
X-107819179-C-G c.586C>G p.P196A Missense 10/53 - 1
X-107819179-C-T c.586C>T p.P196S Missense 10/53 - 1
X-107819182-C-A c.589C>A p.P197T Missense 10/53 - 1
X-107819182-C-G c.589C>G p.P197A Missense 10/53 - 1
X-107819182-C-T c.589C>T p.P197S Missense 10/53 - 3
X-107819178-TC-T c.590del p.P197Qfs*6 Frameshift 10/53 - 1
X-107819183-C-A c.590C>A p.P197Q Missense 10/53 - 1
X-107819183-C-G c.590C>G p.P197R Missense 10/53 - 1
X-107819183-C-T c.590C>T p.P197L Missense 10/53 - 1
X-107819185-G-A c.592G>A p.G198R Missense 10/53 - 2
X-107819186-G-A c.593G>A p.G198E Missense 10/53 - 2
X-107819186-G-T c.593G>T p.G198V Missense 10/53 - 1
X-107819189-C-A c.596C>A p.P199Q Missense 10/53 - 1
X-107819189-C-T c.596C>T p.P199L Missense 10/53 - 1
X-107819194-G-C c.601G>C p.G201R Missense 10/53 - 3
X-107819194-G-T c.601G>T p.G201C Missense 10/53 - 1
X-107819195-G-A c.602G>A p.G201D Missense 10/53 - 1
X-107819195-G-C c.602G>C p.G201A Missense 10/53 - 2
X-107819195-G-T c.602G>T p.G201V Missense 10/53 - 2
X-107819198-T-C c.605T>C p.L202S Missense 10/53 - 1
X-107819199-G-A c.606G>A p.L202= Synonymous 10/53 - 1
X-107819199-G-C c.606G>C p.L202F Missense 10/53 - 1
X-107819203-G-A c.609+1G>A - IntronicSNV - 10/52 1
X-107819207-G-A c.609+5G>A - IntronicSNV - 10/52 1
X-107819223-T-C c.609+21T>C - IntronicSNV - 10/52 8
X-107820077-G-T c.609+875G>T - IntronicSNV - 10/52 2
X-107820081-A-G c.609+879A>G - IntronicSNV - 10/52 1
X-107820877-T-A c.610-305T>A - IntronicSNV - 10/52 1
X-107821182-G-A c.610G>A p.G204S Missense 11/53 - 1
X-107821182-G-C c.610G>C p.G204R Missense 11/53 - 1
X-107821179-TAGGGCCCTCCTGGTCCACC-T c.611_629del p.G204Dfs*11 SpliceAcceptorDeletion 11/53 - 1
X-107821183-G-A c.611G>A p.G204D Missense 11/53 - 4
X-107821183-GGC-G c.611_612del p.G204Afs*11 SpliceAcceptorDeletion 11/53 - 1
X-107821183-G-T c.611G>T p.G204V Missense 11/53 - 4
X-107821185-C-T c.613C>T p.P205S Missense 11/53 - 2
X-107821186-C-T c.614C>T p.P205L Missense 11/53 - 1
X-107821191-G-A c.619G>A p.G207S Missense 11/53 - 2
X-107821191-G-C c.619G>C p.G207R Missense 11/53 - 2
X-107821192-G-A c.620G>A p.G207D Missense 11/53 - 1
X-107821195-C-A c.623C>A p.P208Q Missense 11/53 - 1
X-107821195-C-T c.623C>T p.P208L Missense 11/53 - 1
X-107821198-C-G c.626C>G p.P209R Missense 11/53 - 1
X-107821198-C-T c.626C>T p.P209L Missense 11/53 - 1
X-107821200-G-T c.628G>T p.G210* Nonsense 11/53 - 3
X-107821201-G-A c.629G>A p.G210E Missense 11/53 - 1
X-107821201-G-C c.629G>C p.G210A Missense 11/53 - 1
X-107821201-G-T c.629G>T p.G210V Missense 11/53 - 1
X-107821203-CT-GC c.631_632delinsGC p.L211A Missense 11/53 - 1
X-107821206-TCCA-T c.634_636del p.P212del InFrameDeletion 11/53 - 1
X-107821205-TC-T c.635del p.P212Qfs*9 Frameshift 11/53 - 1
X-107821209-G-A c.637G>A p.G213R Missense 11/53 - 6
X-107821209-GGA-AGC c.637_639delinsAGC p.G213S Missense 11/53 - 1
X-107821210-G-A c.638G>A p.G213E Missense 11/53 - 3
X-107821210-G-T c.638G>T p.G213V Missense 11/53 - 2
X-107821211-A-C c.639A>C p.G213= Synonymous 11/53 - 1
X-107821211-A-G c.639A>G p.G213= Synonymous 11/53 - 1
X-107821211-A-T c.639A>T p.G213= Synonymous 11/53 - 2
X-107821218-G-T c.645+1G>T - IntronicSNV - 11/52 1
X-107821219-T-C c.645+2T>C - IntronicSNV - 11/52 1
X-107821308-G-A c.646G>A p.G216R Missense 12/53 - 4
X-107821308-G-C c.646G>C p.G216R Missense 12/53 - 1
X-107821308-GG-AA c.646_647delinsAA p.G216K Missense 12/53 - 1
X-107821308-G-T c.646G>T p.G216W Missense 12/53 - 1
X-107821309-G-A c.647G>A p.G216E Missense 12/53 - 10
X-107821309-G-C c.647G>C p.G216A Missense 12/53 - 1
X-107821309-G-T c.647G>T p.G216V Missense 12/53 - 4
X-107821306-A-AG c.648dup p.N217Efs*12 Frameshift 12/53 - 1
X-107821310-G-A c.648G>A p.G216= Synonymous 12/53 - 3
X-107821307-GGGGAATAT-G c.649_656del p.N217Lfs*9 Frameshift 12/53 - 1
X-107821311-A-C c.649A>C p.N217H Missense 12/53 - 2
X-107821312-A-G c.650A>G p.N217S Missense 12/53 - 1
X-107821317-G-A c.655G>A p.G219S Missense 12/53 - 3
X-107821317-G-T c.655G>T p.G219C Missense 12/53 - 3
X-107821318-G-A c.656G>A p.G219D Missense 12/53 - 1
X-107821321-T-A c.659T>A p.L220* Nonsense 12/53 - 1
X-107821323-A-G c.661A>G p.N221D Missense 12/53 - 2
X-107821324-A-G c.662A>G p.N221S Missense 12/53 - 1
X-107821327-T-G c.665T>G p.F222C Missense 12/53 - 5
X-107821328-C-T c.666C>T p.F222= Synonymous 12/53 - 4
X-107821329-C-G c.667C>G p.Q223E Missense 12/53 - 2
X-107821329-C-T c.667C>T p.Q223* Nonsense 12/53 - 2
X-107821332-G-A c.670G>A p.G224R Missense 12/53 - 1
X-107821332-GGA-TGT c.670_672delinsTGT p.G224C Missense 12/53 - 1
X-107821333-G-A c.671G>A p.G224E Missense 12/53 - 4
X-107821333-G-C c.671G>C p.G224A Missense 12/53 - 1
X-107821335-C-G c.673C>G p.P225A Missense 12/53 - 1
X-107821336-C-T c.674C>T p.P225L Missense 12/53 - 4
X-107821339-A-C c.677A>C p.K226T Missense 12/53 - 1
X-107821341-G-A c.679G>A p.G227S Missense 12/53 - 5
X-107821341-G-T c.679G>T p.G227C Missense 12/53 - 1
X-107821342-G-A c.680G>A p.G227D Missense 12/53 - 2
X-107821343-T-A c.681T>A p.G227= Synonymous 12/53 - 3
X-107821343-T-C c.681T>C p.G227= Synonymous 12/53 - 1
X-107821343-T-G c.681T>G p.G227= Synonymous 12/53 - 1
X-107821344-G-A c.682G>A p.E228K Missense 12/53 - 2
X-107821344-G-T c.682G>T p.E228* Nonsense 12/53 - 2
X-107821347-A-T c.685A>T p.K229* Nonsense 12/53 - 2
X-107821344-GA-G c.687del p.G230Vfs*24 Frameshift 12/53 - 1
X-107821350-G-A c.687+1G>A - IntronicSNV - 12/52 4
X-107821351-T-C c.687+2T>C - IntronicSNV - 12/52 1
X-107821354-G-A c.687+5G>A - IntronicSNV - 12/52 2
X-107821521-G-A c.688G>A p.G230S Missense 13/53 - 5
X-107821521-G-C c.688G>C p.G230R Missense 13/53 - 3
X-107821521-G-T c.688G>T p.G230C Missense 13/53 - 1
X-107821519-AG-A c.689del p.G230Vfs*24 Frameshift 13/53 - 1
X-107821522-G-A c.689G>A p.G230D Missense 13/53 - 2
X-107821522-G-T c.689G>T p.G230V Missense 13/53 - 4
X-107821524-G-A c.691G>A p.E231K Missense 13/53 - 2
X-107821525-A-T c.692A>T p.E231V Missense 13/53 - 1
X-107821530-G-A c.697G>A p.G233S Missense 13/53 - 1
X-107821529-AG-A c.698del p.G233Vfs*21 Frameshift 13/53 - 1
X-107821531-G-C c.698G>C p.G233A Missense 13/53 - 1
X-107821531-G-T c.698G>T p.G233V Missense 13/53 - 3
X-107821533-C-G c.700C>G p.L234V Missense 13/53 - 1
X-107821533-CTT-ATG c.700_702delinsATG p.L234M Missense 13/53 - 1
X-107821534-T-C c.701T>C p.L234P Missense 13/53 - 1
X-107821534-T-G c.701T>G p.L234R Missense 13/53 - 1
X-107821536-C-T c.703C>T p.Q235* Nonsense 13/53 - 2
X-107821540-G-A c.707G>A p.G236D Missense 13/53 - 3
X-107821540-G-T c.707G>T p.G236V Missense 13/53 - 1
X-107821543-C-A c.710C>A p.P237Q Missense 13/53 - 1
X-107821543-C-T c.710C>T p.P237L Missense 13/53 - 1
X-107821546-C-G c.713C>G p.P238R Missense 13/53 - 2
X-107821548-G-A c.715G>A p.G239R Missense 13/53 - 2
X-107821549-G-A c.716G>A p.G239E Missense 13/53 - 4
X-107821550-G-T c.717G>T p.G239= Synonymous 13/53 - 1
X-107821552-C-A c.719C>A p.P240Q Missense 13/53 - 2
X-107821552-C-G c.719C>G p.P240R Missense 13/53 - 1
X-107821554-C-T c.721C>T p.P241S Missense 13/53 - 1
X-107821557-GG-TA c.724_725delinsTA p.G242* Nonsense 13/53 - 1
X-107821560-C-A c.727C>A p.Q243K Missense 13/53 - 1
X-107821562-G-C c.729G>C p.Q243H Missense 13/53 - 1
X-107821562-G-T c.729G>T p.Q243H Missense 13/53 - 1
X-107821563-A-T c.730A>T p.I244F Missense 13/53 - 1
X-107821567-G-C c.734G>C p.S245T Missense 13/53 - 1
X-107821568-T-C c.735T>C p.S245= Synonymous 13/53 - 1
X-107821570-A-G c.737A>G p.E246G Missense 13/53 - 2
X-107821570-A-T c.737A>T p.E246V Missense 13/53 - 1
X-107821574-G-A c.741G>A p.Q247= Synonymous 13/53 - 3
X-107821574-G-C c.741G>C p.Q247H Missense 13/53 - 1
X-107821574-G-T c.741G>T p.Q247H Missense 13/53 - 1
X-107821579-G-A c.746G>A p.R249K Missense 13/53 - 5
X-107821580-A-C c.747A>C p.R249S Missense 13/53 - 1
X-107821581-C-A c.748C>A p.P250T Missense 13/53 - 3
X-107821584-A-G c.751A>G p.I251V Missense 13/53 - 1
X-107821585-T-C c.752T>C p.I251T Missense 13/53 - 1
X-107821590-G-A c.757G>A p.V253I Missense 13/53 - 2
X-107821592-A-AT c.759_760insT p.E254* Nonsense 13/53 - 1
X-107821593-G-A c.760G>A p.E254K Missense 13/53 - 2
X-107821594-A-C c.761A>C p.E254A Missense 13/53 - 2
X-107821599-C-A c.766C>A p.Q256K Missense 13/53 - 1
X-107821601-G-A c.768G>A p.Q256= Synonymous 13/53 - 2
X-107821605-GGA-AGC c.772_774delinsAGC p.G258S Missense 13/53 - 1
X-107821605-G-T c.772G>T p.G258* Nonsense 13/53 - 3
X-107821606-G-A c.773G>A p.G258E Missense 13/53 - 3
X-107821608-G-A c.775G>A p.D259N Missense 13/53 - 2
X-107821608-G-C c.775G>C p.D259H Missense 13/53 - 1
X-107821608-G-T c.775G>T p.D259Y Missense 13/53 - 1
X-107821610-T-A c.777T>A p.D259E Missense 13/53 - 1
X-107821611-C-A c.778C>A p.Q260K Missense 13/53 - 1
X-107821611-C-T c.778C>T p.Q260* Nonsense 13/53 - 6
X-107821612-A-G c.779A>G p.Q260R Missense 13/53 - 2
X-107821613-G-A c.780G>A p.Q260= Synonymous 13/53 - 1
X-107821614-G-T c.780+1G>T - IntronicSNV - 13/52 1
X-107821615-T-G c.780+2T>G - IntronicSNV - 13/52 1
X-107821618-G-A c.780+5G>A - IntronicSNV - 13/52 1
X-107823763-G-A c.781G>A p.G261R Missense 14/53 - 3
X-107823763-G-C c.781G>C p.G261R Missense 14/53 - 1
X-107823763-GG-AA c.781_782delinsAA p.G261K Missense 14/53 - 1
X-107823764-G-T c.782G>T p.G261V Missense 14/53 - 1
X-107823767-T-A c.785T>A p.L262H Missense 14/53 - 1
X-107823768-TC-T c.788del p.P263Lfs*83 Frameshift 14/53 - 1
X-107823772-G-A c.790G>A p.G264S Missense 14/53 - 1
X-107823772-G-C c.790G>C p.G264R Missense 14/53 - 3
X-107823772-G-T c.790G>T p.G264C Missense 14/53 - 2
X-107823771-TG-T c.791del p.G264Vfs*82 Frameshift 14/53 - 1
X-107823773-G-A c.791G>A p.G264D Missense 14/53 - 3
X-107823773-G-T c.791G>T p.G264V Missense 14/53 - 5
X-107823774-TG-CA c.792_793inv p.D265N Missense 14/53 - 1
X-107823775-G-A c.793G>A p.D265N Missense 14/53 - 1
X-107823778-C-G c.796C>G p.R266G Missense 14/53 - 3
X-107823778-C-T c.796C>T p.R266* Nonsense 14/53 - 6
X-107823779-G-A c.797G>A p.R266Q Missense 14/53 - 1
X-107823781-G-A c.799G>A p.G267R Missense 14/53 - 1
X-107823782-G-T c.800G>T p.G267V Missense 14/53 - 2
X-107823780-A-AG c.801dup p.P268Afs*17 Frameshift 14/53 - 1
X-107823784-C-A c.802C>A p.P268T Missense 14/53 - 1
X-107823787-C-A c.805C>A p.P269T Missense 14/53 - 1
X-107823790-G-A c.808G>A p.G270R Missense 14/53 - 1
X-107823791-G-A c.809G>A p.G270E Missense 14/53 - 1
X-107823792-AC-A c.812del p.P271Lfs*75 Frameshift 14/53 - 1
X-107823794-C-T c.812C>T p.P271L Missense 14/53 - 1
X-107823795-T-A c.813T>A p.P271= Synonymous 14/53 - 2
X-107823795-T-C c.813T>C p.P271= Synonymous 14/53 - 1
X-107823795-T-G c.813T>G p.P271= Synonymous 14/53 - 1
X-107823796-C-T c.814C>T p.P272S Missense 14/53 - 1
X-107823799-G-C c.817G>C p.G273R Missense 14/53 - 1
X-107823800-G-A c.818G>A p.G273E Missense 14/53 - 2
X-107823802-A-G c.820A>G p.I274V Missense 14/53 - 6
X-107823805-C-T c.823C>T p.R275C Missense 14/53 - 2
X-107823806-G-A c.824G>A p.R275H Missense 14/53 - 3
X-107823808-G-A c.826G>A p.G276S Missense 14/53 - 2
X-107823811-C-T c.829C>T p.P277S Missense 14/53 - 1
X-107823812-C-G c.830C>G p.P277R Missense 14/53 - 1
X-107823812-C-T c.830C>T p.P277L Missense 14/53 - 1
X-107823813-T-C c.831T>C p.P277= Synonymous 14/53 - 1
X-107823815-C-T c.833C>T p.P278L Missense 14/53 - 1
X-107823817-G-A c.834+1G>A - IntronicSNV - 14/52 2
X-107823817-G-C c.834+1G>C - IntronicSNV - 14/52 1
X-107823818-T-C c.834+2T>C - IntronicSNV - 14/52 2
X-107823818-T-G c.834+2T>G - IntronicSNV - 14/52 2
X-107823821-G-A c.834+5G>A - IntronicSNV - 14/52 2
X-107823821-G-T c.834+5G>T - IntronicSNV - 14/52 1
X-107823912-G-C c.835G>C p.G279R Missense 15/53 - 1
X-107823912-GG-AC c.835_836delinsAC p.G279T Missense 15/53 - 1
X-107823913-G-C c.836G>C p.G279A Missense 15/53 - 1
X-107823916-C-T c.839C>T p.P280L Missense 15/53 - 1
X-107823914-TC-T c.842del p.P281Qfs*65 Frameshift 15/53 - 1
X-107823921-G-C c.844G>C p.G282R Missense 15/53 - 1
X-107823922-G-A c.845G>A p.G282D Missense 15/53 - 1
X-107823925-G-T c.848G>T p.G283V Missense 15/53 - 1
X-107823928-A-T c.851A>T p.E284V Missense 15/53 - 1
X-107823933-G-A c.856G>A p.G286S Missense 15/53 - 1
X-107823933-G-T c.856G>T p.G286C Missense 15/53 - 4
X-107823936-G-T c.859G>T p.E287* Nonsense 15/53 - 2
X-107823938-G-A c.861G>A p.E287= Synonymous 15/53 - 1
X-107823939-A-G c.862A>G p.K288E Missense 15/53 - 1
X-107823938-GA-G c.863del p.K288Rfs*58 Frameshift 15/53 - 1
X-107823941-G-C c.864G>C p.K288N Missense 15/53 - 3
X-107823941-G-T c.864G>T p.K288N Missense 15/53 - 1
X-107823942-G-A c.865G>A p.G289S Missense 15/53 - 2
X-107823942-G-C c.865G>C p.G289R Missense 15/53 - 1
X-107823942-G-T c.865G>T p.G289C Missense 15/53 - 1
X-107823940-AG-A c.866del p.G289Vfs*57 Frameshift 15/53 - 1
X-107823943-G-C c.866G>C p.G289A Missense 15/53 - 1
X-107823943-G-T c.866G>T p.G289V Missense 15/53 - 3
X-107823944-T-C c.867T>C p.G289= Synonymous 15/53 - 1
X-107823945-GA-AG c.868_869delinsAG p.E290R Missense 15/53 - 1
X-107823945-GA-TC c.868_869inv p.E290S Missense 15/53 - 1
X-107823945-G-T c.868G>T p.E290* Nonsense 15/53 - 2
X-107823946-A-C c.869A>C p.E290A Missense 15/53 - 1
X-107823947-G-T c.870G>T p.E290D Missense 15/53 - 1
X-107823948-C-T c.871C>T p.Q291* Nonsense 15/53 - 1
X-107823949-A-C c.872A>C p.Q291P Missense 15/53 - 1
X-107823949-A-T c.872A>T p.Q291L Missense 15/53 - 1
X-107823948-CA-C c.873del p.G292Efs*54 Frameshift 15/53 - 1
X-107823951-G-A c.874G>A p.G292R Missense 15/53 - 2
X-107823951-G-C c.874G>C p.G292R Missense 15/53 - 5
X-107823950-AG-A c.875del p.G292Efs*54 Frameshift 15/53 - 1
X-107823952-G-A c.875G>A p.G292E Missense 15/53 - 4
X-107823952-G-C c.875G>C p.G292A Missense 15/53 - 1
X-107823952-G-T c.875G>T p.G292V Missense 15/53 - 4
X-107823953-A-C c.876A>C p.G292= Synonymous 15/53 - 3
X-107823953-A-G c.876A>G p.G292= Synonymous 15/53 - 3
X-107823953-A-T c.876A>T p.G292= Synonymous 15/53 - 5
X-107823954-G-A c.877G>A p.E293K Missense 15/53 - 1
X-107823954-G-C c.877G>C p.E293Q Missense 15/53 - 1
X-107823957-C-T c.880C>T p.P294S Missense 15/53 - 1
X-107823960-G-A c.883G>A p.G295S Missense 15/53 - 1
X-107823961-G-A c.884G>A p.G295D Missense 15/53 - 6
X-107823962-C-A c.885C>A p.G295= Synonymous 15/53 - 2
X-107823962-C-G c.885C>G p.G295= Synonymous 15/53 - 1
X-107823962-C-T c.885C>T p.G295= Synonymous 15/53 - 1
X-107823962-CAA-C c.888_889del p.G298* Frameshift 15/53 - 1
X-107823967-G-T c.890G>T p.R297I Missense 15/53 - 1
X-107823968-A-T c.891A>T p.R297S Missense 15/53 - 1
X-107823969-G-A c.891+1G>A - IntronicSNV - 15/52 1
X-107823970-T-A c.891+2T>A - IntronicSNV - 15/52 1
X-107824005-A-G c.891+37A>G - IntronicSNV - 15/52 3
X-107824005-A-T c.891+37A>T - IntronicSNV - 15/52 2
X-107824213-G-A c.892G>A p.G298S Missense 16/53 - 5
X-107824213-G-C c.892G>C p.G298R Missense 16/53 - 2
X-107824214-G-A c.893G>A p.G298D Missense 16/53 - 2
X-107824215-T-A c.894T>A p.G298= Synonymous 16/53 - 1
X-107824215-T-C c.894T>C p.G298= Synonymous 16/53 - 1
X-107824215-T-G c.894T>G p.G298= Synonymous 16/53 - 1
X-107824217-A-G c.896A>G p.K299R Missense 16/53 - 1
X-107824218-A-G c.897A>G p.K299= Synonymous 16/53 - 1
X-107824219-C-T c.898C>T p.P300S Missense 16/53 - 2
X-107824220-C-T c.899C>T p.P300L Missense 16/53 - 3
X-107824221-A-T c.900A>T p.P300= Synonymous 16/53 - 1
X-107824222-G-C c.901G>C p.G301R Missense 16/53 - 1
X-107824223-G-A c.902G>A p.G301D Missense 16/53 - 2
X-107824223-GC-AG c.902_903delinsAG p.G301E Missense 16/53 - 2
X-107824223-G-T c.902G>T p.G301V Missense 16/53 - 1
X-107824228-G-C c.907G>C p.D303H Missense 16/53 - 1
X-107824232-G-A c.911G>A p.G304E Missense 16/53 - 1
X-107824234-G-T c.913G>T p.E305* Nonsense 16/53 - 2
X-107824234-GA-G c.917del p.N306Mfs*40 Frameshift 16/53 - 2
X-107824238-A-G c.917A>G p.N306S Missense 16/53 - 1
X-107824240-G-A c.919G>A p.G307S Missense 16/53 - 1
X-107824239-TG-T c.920del p.G307Afs*39 Frameshift 16/53 - 1
X-107824241-G-A c.920G>A p.G307D Missense 16/53 - 5
X-107824242-C-T c.921C>T p.G307= Synonymous 16/53 - 1
X-107824243-C-T c.922C>T p.Q308* Nonsense 16/53 - 3
X-107824244-A-C c.923A>C p.Q308P Missense 16/53 - 1
X-107824245-A-T c.924A>T p.Q308H Missense 16/53 - 1
X-107824246-C-T c.925C>T p.P309S Missense 16/53 - 1
X-107824247-C-G c.926C>G p.P309R Missense 16/53 - 2
X-107824249-G-A c.928G>A p.G310R Missense 16/53 - 3
X-107824249-G-C c.928G>C p.G310R Missense 16/53 - 2
X-107824250-G-A c.929G>A p.G310E Missense 16/53 - 8
X-107824250-G-C c.929G>C p.G310A Missense 16/53 - 1
X-107824250-G-T c.929G>T p.G310V Missense 16/53 - 2
X-107824258-G-A c.936+1G>A - IntronicSNV - 16/52 2
X-107824259-T-A c.936+2T>A - IntronicSNV - 16/52 1
X-107825945-C-T c.937-169C>T - IntronicSNV - 16/52 1
X-107826114-G-A c.937G>A p.G313S Missense 17/53 - 2
X-107826112-AG-A c.938del p.G313Vfs*33 Frameshift 17/53 - 1
X-107826115-G-C c.938G>C p.G313A Missense 17/53 - 1
X-107826115-G-T c.938G>T p.G313V Missense 17/53 - 3
X-107826120-C-T c.943C>T p.P315S Missense 17/53 - 1
X-107826119-GC-G c.944del p.P315Lfs*31 Frameshift 17/53 - 1
X-107826121-C-CT c.945dup p.G316Wfs*2 Frameshift 17/53 - 1
X-107826123-G-A c.946G>A p.G316S Missense 17/53 - 2
X-107826124-G-A c.947G>A p.G316D Missense 17/53 - 4
X-107826125-T-A c.948T>A p.G316= Synonymous 17/53 - 2
X-107826125-T-C c.948T>C p.G316= Synonymous 17/53 - 2
X-107826125-T-G c.948T>G p.G316= Synonymous 17/53 - 2
X-107826127-A-G c.950A>G p.D317G Missense 17/53 - 3
X-107826129-C-T c.952C>T p.P318S Missense 17/53 - 5
X-107826130-C-G c.953C>G p.P318R Missense 17/53 - 2
X-107826132-G-A c.955G>A p.G319S Missense 17/53 - 1
X-107826132-G-C c.955G>C p.G319R Missense 17/53 - 6
X-107826133-G-A c.956G>A p.G319D Missense 17/53 - 4
X-107826133-G-T c.956G>T p.G319V Missense 17/53 - 2
X-107826135-TAC-GAG c.958_960delinsGAG p.Y320E Missense 17/53 - 1
X-107826135-TA-GC c.958_959delinsGC p.Y320A Missense 17/53 - 1
X-107826137-C-A c.960C>A p.Y320* Nonsense 17/53 - 2
X-107826137-C-G c.960C>G p.Y320* Nonsense 17/53 - 1
X-107826138-C-T c.961C>T p.P321S Missense 17/53 - 2
X-107826142-G-A c.965G>A p.G322D Missense 17/53 - 3
X-107826142-G-T c.965G>T p.G322V Missense 17/53 - 2
X-107826142-GT-AG c.965_966delinsAG p.G322E Missense 17/53 - 1
X-107826146-A-G c.969A>G p.E323= Synonymous 17/53 - 1
X-107826147-C-T c.970C>T p.P324S Missense 17/53 - 1
X-107826150-G-A c.973G>A p.G325R Missense 17/53 - 11
X-107826150-G-C c.973G>C p.G325R Missense 17/53 - 6
X-107826150-GG-CA c.973_974delinsCA p.G325Q Missense 17/53 - 1
X-107826150-G-T c.973G>T p.G325* Nonsense 17/53 - 2
X-107826151-G-A c.974G>A p.G325E Missense 17/53 - 5
X-107826151-G-C c.974G>C p.G325A Missense 17/53 - 1
X-107826153-AG-CA c.976_977delinsCA p.R326Q Missense 17/53 - 1
X-107826154-GG-TC c.977_978delinsTC p.R326I Missense 17/53 - 2
X-107826154-GGGAT-G c.980_983del p.D327Vfs*18 Frameshift 17/53 - 2
X-107826157-A-G c.980A>G p.D327G Missense 17/53 - 1
X-107826158-T-A c.981T>A p.D327E Missense 17/53 - 2
X-107826158-T-C c.981T>C p.D327= Synonymous 17/53 - 1
X-107826158-T-G c.981T>G p.D327E Missense 17/53 - 1
X-107826162-G-T c.985G>T p.E329* Nonsense 17/53 - 1
X-107826163-A-G c.986A>G p.E329G Missense 17/53 - 1
X-107826165-AAAG-A c.988_990del p.K330del InFrameDeletion 17/53 - 1
X-107826162-GA-G c.989del p.K330Rfs*16 Frameshift 17/53 - 1
X-107826166-A-G c.989A>G p.K330R Missense 17/53 - 1
X-107826167-G-T c.990G>T p.K330N Missense 17/53 - 3
X-107827518-C-T c.991-196C>T - IntronicSNV - 17/52 1
X-107827540-C-A c.991-174C>A - IntronicSNV - 17/52 2
X-107827540-C-T c.991-174C>T - IntronicSNV - 17/52 2
X-107827714-G-A c.991G>A p.G331S Missense 18/53 - 2
X-107827715-G-T c.992G>T p.G331V Missense 18/53 - 9
X-107827716-C-A c.993C>A p.G331= Synonymous 18/53 - 1
X-107827716-C-G c.993C>G p.G331= Synonymous 18/53 - 1
X-107827716-C-T c.993C>T p.G331= Synonymous 18/53 - 1
X-107827719-A-C c.996A>C p.Q332H Missense 18/53 - 1
X-107827720-A-G c.997A>G p.K333E Missense 18/53 - 1
X-107827723-G-A c.1000G>A p.G334S Missense 18/53 - 2
X-107827723-G-T c.1000G>T p.G334C Missense 18/53 - 1
X-107827724-G-T c.1001G>T p.G334V Missense 18/53 - 2
X-107827726-G-T c.1003G>T p.D335Y Missense 18/53 - 1
X-107827727-A-C c.1004A>C p.D335A Missense 18/53 - 1
X-107827728-C-A c.1005C>A p.D335E Missense 18/53 - 1
X-107827729-AC-TG c.1006_1007delinsTG p.T336C Missense 18/53 - 1
X-107827729-A-T c.1006A>T p.T336S Missense 18/53 - 1
X-107827732-G-A c.1009G>A p.G337S Missense 18/53 - 2
X-107827732-G-T c.1009G>T p.G337C Missense 18/53 - 1
X-107827733-G-A c.1010G>A p.G337D Missense 18/53 - 1
X-107827733-G-T c.1010G>T p.G337V Missense 18/53 - 3
X-107827735-C-A c.1012C>A p.P338T Missense 18/53 - 1
X-107827735-C-T c.1012C>T p.P338S Missense 18/53 - 4
X-107827736-C-A c.1013C>A p.P338Q Missense 18/53 - 1
X-107827738-C-A c.1015C>A p.P339T Missense 18/53 - 1
X-107827739-C-T c.1016C>T p.P339L Missense 18/53 - 1
X-107827741-G-A c.1018G>A p.G340R Missense 18/53 - 1
X-107827741-G-C c.1018G>C p.G340R Missense 18/53 - 1
X-107827745-C-A c.1022C>A p.P341H Missense 18/53 - 1
X-107827747-C-T c.1024C>T p.P342S Missense 18/53 - 5
X-107827752-A-C c.1029A>C p.G343= Synonymous 18/53 - 1
X-107827752-A-G c.1029A>G p.G343= Synonymous 18/53 - 1
X-107827752-A-T c.1029A>T p.G343= Synonymous 18/53 - 1
X-107827754-T-C c.1031T>C p.L344P Missense 18/53 - 4
X-107827754-T-G c.1031T>G p.L344R Missense 18/53 - 1
X-107827755-TGTAA-T c.1032+3_1032+6del - IntronicDeletion - 18/52 1
X-107827760-G-A c.1032+5G>A - IntronicSNV - 18/52 2
X-107827760-G-T c.1032+5G>T - IntronicSNV - 18/52 1
X-107827760-GT-G c.1032+17del - IntronicDeletion - 18/52 1
X-107827780-G-A c.1032+25G>A - IntronicSNV - 18/52 4
X-107827780-G-C c.1032+25G>C - IntronicSNV - 18/52 3
X-107827780-G-T c.1032+25G>T - IntronicSNV - 18/52 3
X-107829773-C-T c.1033-72C>T - IntronicSNV - 18/52 5
X-107829846-TA-AC c.1034_1035delinsAC p.V345D Missense 19/53 - 1
X-107829846-T-G c.1034T>G p.V345G Missense 19/53 - 2
X-107829851-C-T c.1039C>T p.P347S Missense 19/53 - 4
X-107829852-C-T c.1040C>T p.P347L Missense 19/53 - 1
X-107829855-G-A c.1043G>A p.R348K Missense 19/53 - 2
X-107829857-C-T c.1045C>T p.P349S Missense 19/53 - 1
X-107829858-C-T c.1046C>T p.P349L Missense 19/53 - 1
X-107829860-G-T c.1048G>T p.G350W Missense 19/53 - 3
X-107829862-G-A c.1050G>A p.G350= Synonymous 19/53 - 1
X-107829867-G-A c.1055G>A p.G352D Missense 19/53 - 1
X-107829869-A-G c.1057A>G p.I353V Missense 19/53 - 1
X-107829870-T-TA c.1060dup p.T354Nfs*57 Frameshift 19/53 - 1
X-107829872-A-G c.1060A>G p.T354A Missense 19/53 - 2
X-107829873-C-T c.1061C>T p.T354I Missense 19/53 - 2
X-107829873-C-CT c.1062dup p.I355Yfs*56 Frameshift 19/53 - 1
X-107829875-A-C c.1063A>C p.I355L Missense 19/53 - 1
X-107829876-T-A c.1064T>A p.I355K Missense 19/53 - 1
X-107829878-G-A c.1066G>A p.G356R Missense 19/53 - 3
X-107829878-G-C c.1066G>C p.G356R Missense 19/53 - 1
X-107829879-G-A c.1067G>A p.G356E Missense 19/53 - 6
X-107829879-G-C c.1067G>C p.G356A Missense 19/53 - 1
X-107829881-G-A c.1069G>A p.E357K Missense 19/53 - 1
X-107829883-A-C c.1071A>C p.E357D Missense 19/53 - 1
X-107829883-A-T c.1071A>T p.E357D Missense 19/53 - 5
X-107829884-A-G c.1072A>G p.K358E Missense 19/53 - 2
X-107829885-A-AC c.1073_1074insC p.K358Nfs*53 Frameshift 19/53 - 1
X-107829881-GA-G c.1074del p.G359Efs*115 Frameshift 19/53 - 1
X-107829887-G-A c.1075G>A p.G359R Missense 19/53 - 3
X-107829887-G-C c.1075G>C p.G359R Missense 19/53 - 1
X-107829888-G-A c.1076G>A p.G359E Missense 19/53 - 8
X-107829877-AGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT-A c.1078_1113del p.N360_G371del InFrameDeletion 19/53 - 1
X-107829888-G-GA c.1079dup p.N360Kfs*51 Frameshift 19/53 - 1
X-107829891-A-G c.1079A>G p.N360S Missense 19/53 - 3
X-107829893-A-G c.1081A>G p.I361V Missense 19/53 - 1
X-107829894-T-C c.1082T>C p.I361T Missense 19/53 - 1
X-107829896-G-A c.1084G>A p.G362R Missense 19/53 - 2
X-107829897-G-A c.1085G>A p.G362E Missense 19/53 - 2
X-107829897-G-T c.1085G>T p.G362V Missense 19/53 - 2
X-107829900-T-G c.1088T>G p.L363W Missense 19/53 - 1
X-107829902-C-T c.1090C>T p.P364S Missense 19/53 - 1
X-107829906-G-A c.1094G>A p.G365E Missense 19/53 - 5
X-107829906-G-T c.1094G>T p.G365V Missense 19/53 - 1
X-107829894-TTGGGTTGCC-T c.1095_1103del p.L366_G368del InFrameDeletion 19/53 - 1
X-107829907-G-C c.1095G>C p.G365= Synonymous 19/53 - 10
X-107829908-T-C c.1096T>C p.L366= Synonymous 19/53 - 2
X-107829912-C-T c.1100C>T p.P367L Missense 19/53 - 6
X-107829914-G-A c.1102G>A p.G368R Missense 19/53 - 1
X-107829914-GGA-TGT c.1102_1104delinsTGT p.G368C Missense 19/53 - 2
X-107829915-G-A c.1103G>A p.G368E Missense 19/53 - 1
X-107829917-G-T c.1105G>T p.E369* Nonsense 19/53 - 2
X-107829919-A-C c.1107A>C p.E369D Missense 19/53 - 3
X-107829919-A-T c.1107A>T p.E369D Missense 19/53 - 2
X-107829922-A-C c.1110A>C p.K370N Missense 19/53 - 2
X-107829922-A-G c.1110A>G p.K370= Synonymous 19/53 - 1
X-107829922-A-T c.1110A>T p.K370N Missense 19/53 - 5
X-107829923-G-A c.1111G>A p.G371R Missense 19/53 - 6
X-107829923-G-C c.1111G>C p.G371R Missense 19/53 - 2
X-107829923-G-T c.1111G>T p.G371* Nonsense 19/53 - 1
X-107829924-G-A c.1112G>A p.G371E Missense 19/53 - 4
X-107829926-G-T c.1114G>T p.E372* Nonsense 19/53 - 2
X-107829928-G-C c.1116G>C p.E372D Missense 19/53 - 2
X-107829929-C-T c.1117C>T p.R373* Nonsense 19/53 - 10
X-107829930-G-A c.1118G>A p.R373Q Missense 19/53 - 8
X-107829932-G-A c.1120G>A p.G374R Missense 19/53 - 2
X-107829932-G-C c.1120G>C p.G374R Missense 19/53 - 1
X-107829932-G-T c.1120G>T p.G374* Nonsense 19/53 - 1
X-107829933-G-A c.1121G>A p.G374E Missense 19/53 - 4
X-107829933-G-C c.1121G>C p.G374A Missense 19/53 - 3
X-107829933-G-T c.1121G>T p.G374V Missense 19/53 - 2
X-107829935-T-C c.1123T>C p.F375L Missense 19/53 - 2
X-107829936-T-TCC c.1124_1125insCC p.P376Lfs*99 Frameshift 19/53 - 1
X-107829938-C-T c.1126C>T p.P376S Missense 19/53 - 6
X-107829939-C-G c.1127C>G p.P376R Missense 19/53 - 1
X-107829939-C-T c.1127C>T p.P376L Missense 19/53 - 1
X-107829941-G-A c.1129G>A p.G377R Missense 19/53 - 4
X-107829941-GGA-AGC c.1129_1131delinsAGC p.G377S Missense 19/53 - 2
X-107829942-G-A c.1130G>A p.G377E Missense 19/53 - 2
X-107829944-AATACAGG-A c.1132_1138del p.I378Vfs*94 Frameshift 19/53 - 1
X-107829947-C-T c.1135C>T p.Q379* Nonsense 19/53 - 2
X-107829950-G-C c.1138G>C p.G380R Missense 19/53 - 2
X-107829951-G-A c.1139G>A p.G380D Missense 19/53 - 3
X-107829952-T-A c.1140T>A p.G380= Synonymous 19/53 - 2
X-107829952-T-C c.1140T>C p.G380= Synonymous 19/53 - 3
X-107829952-T-G c.1140T>G p.G380= Synonymous 19/53 - 2
X-107829953-C-A c.1141C>A p.P381T Missense 19/53 - 1
X-107829953-C-T c.1141C>T p.P381S Missense 19/53 - 1
X-107829954-C-T c.1142C>T p.P381L Missense 19/53 - 1
X-107829959-G-C c.1147G>C p.G383R Missense 19/53 - 3
X-107829959-G-T c.1147G>T p.G383C Missense 19/53 - 2
X-107829960-G-A c.1148G>A p.G383D Missense 19/53 - 5
X-107829960-G-T c.1148G>T p.G383V Missense 19/53 - 2
X-107829962-C-T c.1150C>T p.L384F Missense 19/53 - 1
X-107829962-CT-C c.1152del p.P385Lfs*89 Frameshift 19/53 - 1
X-107829964-T-A c.1152T>A p.L384= Synonymous 19/53 - 2
X-107829964-T-C c.1152T>C p.L384= Synonymous 19/53 - 2
X-107829964-T-G c.1152T>G p.L384= Synonymous 19/53 - 2
X-107829965-C-T c.1153C>T p.P385S Missense 19/53 - 1
X-107829967-T-C c.1155T>C p.P385= Synonymous 19/53 - 1
X-107829971-C-A c.1159C>A p.P387T Missense 19/53 - 2
X-107829971-C-T c.1159C>T p.P387S Missense 19/53 - 1
X-107829974-CCA-GAC c.1162_1164delinsGAC p.P388D Missense 19/53 - 1
X-107829975-C-T c.1163C>T p.P388L Missense 19/53 - 1
X-107829977-G-A c.1165G>A p.G389R Missense 19/53 - 4
X-107829977-G-C c.1165G>C p.G389R Missense 19/53 - 1
X-107829978-G-A c.1165+1G>A - IntronicSNV - 19/52 2
X-107829979-T-G c.1165+2T>G - IntronicSNV - 19/52 1
X-107830175-G-A c.1165+198G>A - IntronicSNV - 19/52 1
X-107830178-T-C c.1165+201T>C - IntronicSNV - 19/52 1
X-107834288-G-A c.1166G>A p.G389E Missense 20/53 - 1
X-107834289-G-A c.1167G>A p.G389= Synonymous 20/53 - 1
X-107834289-G-C c.1167G>C p.G389= Synonymous 20/53 - 1
X-107834289-G-T c.1167G>T p.G389= Synonymous 20/53 - 1
X-107834290-G-A c.1168G>A p.A390T Missense 20/53 - 1
X-107834293-G-A c.1171G>A p.A391T Missense 20/53 - 1
X-107834293-G-T c.1171G>T p.A391S Missense 20/53 - 1
X-107834294-C-A c.1172C>A p.A391E Missense 20/53 - 1
X-107834302-G-A c.1180G>A p.G394S Missense 20/53 - 1
X-107834302-G-T c.1180G>T p.G394C Missense 20/53 - 1
X-107834300-TG-T c.1181del p.G394Vfs*80 Frameshift 20/53 - 1
X-107834303-GT-AG c.1181_1182delinsAG p.G394E Missense 20/53 - 1
X-107834305-C-T c.1183C>T p.P395S Missense 20/53 - 2
X-107834306-C-T c.1184C>T p.P395L Missense 20/53 - 1
X-107834308-C-T c.1186C>T p.P396S Missense 20/53 - 2
X-107834309-C-T c.1187C>T p.P396L Missense 20/53 - 2
X-107834311-G-C c.1189G>C p.G397R Missense 20/53 - 1
X-107834311-G-T c.1189G>T p.G397C Missense 20/53 - 2
X-107834312-G-T c.1190G>T p.G397V Missense 20/53 - 1
X-107834314-C-T c.1192C>T p.P398S Missense 20/53 - 1
X-107834315-C-T c.1193C>T p.P398L Missense 20/53 - 1
X-107834316-T-A c.1194T>A p.P398= Synonymous 20/53 - 1
X-107834316-T-C c.1194T>C p.P398= Synonymous 20/53 - 3
X-107834316-T-G c.1194T>G p.P398= Synonymous 20/53 - 1
X-107834317-C-A c.1195C>A p.P399T Missense 20/53 - 1
X-107834320-G-T c.1198G>T p.G400* Nonsense 20/53 - 1
X-107834321-G-A c.1199G>A p.G400E Missense 20/53 - 5
X-107834322-A-G c.1200A>G p.G400= Synonymous 20/53 - 1
X-107834323-T-A c.1201T>A p.F401I Missense 20/53 - 1
X-107834328-T-C c.1206T>C p.P402= Synonymous 20/53 - 1
X-107834330-G-A c.1208G>A p.G403E Missense 20/53 - 1
X-107834330-G-T c.1208G>T p.G403V Missense 20/53 - 3
X-107834333-A-C c.1211A>C p.E404A Missense 20/53 - 1
X-107834332-G-GA c.1213dup p.R405Kfs*6 Frameshift 20/53 - 2
X-107834335-AG-CA c.1213_1214delinsCA p.R405Q Missense 20/53 - 2
X-107834336-G-A c.1214G>A p.R405K Missense 20/53 - 2
X-107834336-G-GA c.1214_1215insA p.Q407Sfs*4 Frameshift 20/53 - 3
X-107834336-G-T c.1214G>T p.R405M Missense 20/53 - 1
X-107834337-G-T c.1215G>T p.R405S Missense 20/53 - 1
X-107834338-G-A c.1216G>A p.G406S Missense 20/53 - 3
X-107834338-G-C c.1216G>C p.G406R Missense 20/53 - 3
X-107834338-GG-CC c.1216_1217inv p.G406P Missense 20/53 - 1
X-107834338-G-T c.1216G>T p.G406C Missense 20/53 - 1
X-107834335-AG-A c.1217del p.G406Vfs*68 Frameshift 20/53 - 1
X-107834339-G-A c.1217G>A p.G406D Missense 20/53 - 2
X-107834339-G-T c.1217G>T p.G406V Missense 20/53 - 8
X-107834341-C-T c.1219C>T p.Q407* Nonsense 20/53 - 9
X-107834344-A-T c.1222A>T p.K408* Nonsense 20/53 - 2
X-107834347-G-A c.1225G>A p.G409S Missense 20/53 - 3
X-107834348-G-A c.1226G>A p.G409D Missense 20/53 - 6
X-107834348-G-C c.1226G>C p.G409A Missense 20/53 - 1
X-107834353-G-A c.1231G>A p.E411K Missense 20/53 - 4
X-107834356-G-A c.1234G>A p.G412R Missense 20/53 - 1
X-107834356-GGA-AGC c.1234_1236delinsAGC p.G412S Missense 20/53 - 1
X-107834356-G-T c.1234G>T p.G412* Nonsense 20/53 - 1
X-107834357-G-T c.1235G>T p.G412V Missense 20/53 - 5
X-107834360-C-T c.1238C>T p.P413L Missense 20/53 - 1
X-107834363-C-A c.1241C>A p.P414H Missense 20/53 - 1
X-107834364-T-C c.1242T>C p.P414= Synonymous 20/53 - 1
X-107834365-G-A c.1243G>A p.G415R Missense 20/53 - 3
X-107834365-G-C c.1243G>C p.G415R Missense 20/53 - 1
X-107834361-ACCTGGAATTTCCATTCCTGGACCT-A c.1246_1269del p.I416_G423del InFrameDeletion 20/53 - 1
X-107834368-A-G c.1246A>G p.I416V Missense 20/53 - 2
X-107834371-T-A c.1249T>A p.S417T Missense 20/53 - 1
X-107834371-TC-GG c.1249_1250delinsGG p.S417G Missense 20/53 - 1
X-107834371-T-G c.1249T>G p.S417A Missense 20/53 - 1
X-107834372-C-T c.1250C>T p.S417F Missense 20/53 - 8
X-107834373-C-T c.1251C>T p.S417= Synonymous 20/53 - 2
X-107834374-AT-A c.1254del p.P419Lfs*55 Frameshift 20/53 - 1
X-107834377-C-G c.1255C>G p.P419A Missense 20/53 - 2
X-107834377-C-T c.1255C>T p.P419S Missense 20/53 - 1
X-107834378-C-A c.1256C>A p.P419H Missense 20/53 - 3
X-107834380-G-A c.1258G>A p.G420R Missense 20/53 - 3
X-107834380-G-C c.1258G>C p.G420R Missense 20/53 - 1
X-107834381-G-A c.1259G>A p.G420E Missense 20/53 - 5
X-107834381-G-T c.1259G>T p.G420V Missense 20/53 - 4
X-107834384-C-T c.1262C>T p.P421L Missense 20/53 - 1
X-107834385-T-A c.1263T>A p.P421= Synonymous 20/53 - 1
X-107834385-T-C c.1263T>C p.P421= Synonymous 20/53 - 1
X-107834385-T-G c.1263T>G p.P421= Synonymous 20/53 - 2
X-107834386-C-G c.1264C>G p.P422A Missense 20/53 - 1
X-107834385-TC-T c.1265del p.P422Lfs*52 Frameshift 20/53 - 1
X-107834387-C-T c.1265C>T p.P422L Missense 20/53 - 1
X-107834388-T-A c.1266T>A p.P422= Synonymous 20/53 - 3
X-107834388-T-C c.1266T>C p.P422= Synonymous 20/53 - 2
X-107834388-T-G c.1266T>G p.P422= Synonymous 20/53 - 2
X-107834390-G-A c.1268G>A p.G423E Missense 20/53 - 4
X-107834391-GA-G c.1269del p.D425Tfs*49 Frameshift 20/53 - 1
X-107834397-C-T c.1275C>T p.D425= Synonymous 20/53 - 1
X-107834398-G-A c.1276G>A p.G426R Missense 20/53 - 8
X-107834398-G-C c.1276G>C p.G426R Missense 20/53 - 3
X-107834398-G-T c.1276G>T p.G426* Nonsense 20/53 - 1
X-107834399-GA-AC c.1277_1278delinsAC p.G426D Missense 20/53 - 1
X-107834401-C-CA c.1280dup p.P428Afs*20 Frameshift 20/53 - 1
X-107834403-G-A c.1281G>A p.Q427= Synonymous 20/53 - 2
X-107834405-C-G c.1283C>G p.P428R Missense 20/53 - 1
X-107834405-C-T c.1283C>T p.P428L Missense 20/53 - 1
X-107834408-G-A c.1286G>A p.G429E Missense 20/53 - 2
X-107834406-T-TG c.1288dup p.A430Gfs*18 Frameshift 20/53 - 1
X-107834410-G-A c.1288G>A p.A430T Missense 20/53 - 2
X-107834411-C-A c.1289C>A p.A430D Missense 20/53 - 9
X-107834411-C-T c.1289C>T p.A430V Missense 20/53 - 3
X-107834413-C-T c.1291C>T p.P431S Missense 20/53 - 2
X-107834415-T-C c.1293T>C p.P431= Synonymous 20/53 - 1
X-107834416-G-A c.1294G>A p.G432R Missense 20/53 - 2
X-107834417-G-A c.1295G>A p.G432E Missense 20/53 - 1
X-107834422-C-T c.1300C>T p.P434S Missense 20/53 - 3
X-107834423-C-A c.1301C>A p.P434Q Missense 20/53 - 1
X-107834423-C-G c.1301C>G p.P434R Missense 20/53 - 1
X-107834423-C-T c.1301C>T p.P434L Missense 20/53 - 3
X-107834426-G-A c.1304G>A p.G435E Missense 20/53 - 1
X-107834431-C-G c.1309C>G p.P437A Missense 20/53 - 1
X-107834432-C-T c.1310C>T p.P437L Missense 20/53 - 3
X-107834438-C-A c.1316C>A p.P439H Missense 20/53 - 1
X-107834441-C-T c.1319C>T p.A440V Missense 20/53 - 2
X-107834444-G-C c.1322G>C p.G441A Missense 20/53 - 1
X-107834446-C-T c.1324C>T p.P442S Missense 20/53 - 1
X-107834449-C-T c.1327C>T p.H443Y Missense 20/53 - 2
X-107834452-A-G c.1330A>G p.I444V Missense 20/53 - 1
X-107834453-T-G c.1331T>G p.I444S Missense 20/53 - 21
X-107834455-C-T c.1333C>T p.P445S Missense 20/53 - 1
X-107834454-TC-T c.1334del p.P445Lfs*29 Frameshift 20/53 - 1
X-107834457-T-A c.1335T>A p.P445= Synonymous 20/53 - 1
X-107834458-CCT-TAA c.1336_1338delinsTAA p.P446* Nonsense 20/53 - 1
X-107834467-C-G c.1339+6C>G - IntronicSNV - 20/52 1
X-107834486-A-C c.1339+25A>C - IntronicSNV - 20/52 1
X-107834642-A-G c.1340-149A>G - IntronicSNV - 20/52 2
X-107834791-G-A c.1340G>A p.S447N Missense 21/53 - 1
X-107834791-GTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGAC-G c.1342_1400del p.D448Pfs*9 Unclassified 21/53 - 1
X-107834795-ATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGACTCC-A c.1344_1402del p.D448Efs*9 InFrameDeletion 21/53 - 1
X-107834797-A-T c.1346A>T p.E449V Missense 21/53 - 1
X-107834794-ATGAGATATG-A c.1347_1355del p.I450_E452del InFrameDeletion 21/53 - 1
X-107834798-GAT-G c.1350_1351del p.I450Mfs*2 Frameshift 21/53 - 1
X-107834801-A-G c.1350A>G p.I450M Missense 21/53 - 2
X-107834802-T-C c.1351T>C p.C451R Missense 21/53 - 3
X-107834802-T-G c.1351T>G p.C451G Missense 21/53 - 1
X-107834803-G-A c.1352G>A p.C451Y Missense 21/53 - 2
X-107834805-G-A c.1354G>A p.E452K Missense 21/53 - 1
X-107834806-A-C c.1355A>C p.E452A Missense 21/53 - 1
X-107834807-A-C c.1356A>C p.E452D Missense 21/53 - 1
X-107834811-G-T c.1360G>T p.G454C Missense 21/53 - 1
X-107834812-G-T c.1361G>T p.G454V Missense 21/53 - 1
X-107834814-C-T c.1363C>T p.P455S Missense 21/53 - 4
X-107834815-C-T c.1364C>T p.P455L Missense 21/53 - 2
X-107834819-A-C c.1368A>C p.P456= Synonymous 21/53 - 1
X-107834819-A-G c.1368A>G p.P456= Synonymous 21/53 - 1
X-107834819-A-T c.1368A>T p.P456= Synonymous 21/53 - 1
X-107834816-TCCAGGCCCC-T c.1371_1379del p.P458_G460del InFrameDeletion 21/53 - 1
X-107834823-C-A c.1372C>A p.P458T Missense 21/53 - 1
X-107834824-C-T c.1373C>T p.P458L Missense 21/53 - 2
X-107834825-C-T c.1374C>T p.P458= Synonymous 21/53 - 1
X-107834825-C-TT c.1374delinsTT p.P459Sfs*6 Frameshift 21/53 - 1
X-107834821-GC-G c.1376del p.P459Qfs*15 Frameshift 21/53 - 2
X-107834821-G-GC c.1376dup p.G460Rfs*5 Frameshift 21/53 - 4
X-107834827-C-G c.1376C>G p.P459R Missense 21/53 - 1
X-107834827-C-T c.1376C>T p.P459L Missense 21/53 - 2
X-107834827-C-CA c.1377dup p.G460Rfs*5 Frameshift 21/53 - 4
X-107834829-G-A c.1378G>A p.G460R Missense 21/53 - 6
X-107834829-G-C c.1378G>C p.G460R Missense 21/53 - 1
X-107834830-G-A c.1379G>A p.G460E Missense 21/53 - 7
X-107834833-C-A c.1382C>A p.S461Y Missense 21/53 - 1
X-107834835-C-T c.1384C>T p.P462S Missense 21/53 - 2
X-107834836-C-T c.1385C>T p.P462L Missense 21/53 - 1
X-107834838-G-A c.1387G>A p.G463S Missense 21/53 - 2
X-107834838-G-C c.1387G>C p.G463R Missense 21/53 - 2
X-107834842-A-G c.1391A>G p.D464G Missense 21/53 - 1
X-107834844-A-G c.1393A>G p.K465E Missense 21/53 - 3
X-107834847-G-A c.1396G>A p.G466R Missense 21/53 - 3
X-107834847-G-C c.1396G>C p.G466R Missense 21/53 - 3
X-107834847-G-T c.1396G>T p.G466* Nonsense 21/53 - 2
X-107834848-G-A c.1397G>A p.G466E Missense 21/53 - 4
X-107834850-C-A c.1399C>A p.L467I Missense 21/53 - 1
X-107834850-C-T c.1399C>T p.L467F Missense 21/53 - 1
X-107834852-C-A c.1401C>A p.L467= Synonymous 21/53 - 1
X-107834852-C-G c.1401C>G p.L467= Synonymous 21/53 - 1
X-107834852-C-T c.1401C>T p.L467= Synonymous 21/53 - 1
X-107834853-C-T c.1402C>T p.Q468* Nonsense 21/53 - 2
X-107834856-G-A c.1405G>A p.G469R Missense 21/53 - 2
X-107834856-GGA-AGC c.1405_1407delinsAGC p.G469S Missense 21/53 - 1
X-107834857-G-A c.1406G>A p.G469E Missense 21/53 - 4
X-107834862-C-T c.1411C>T p.Q471* Nonsense 21/53 - 3
X-107834863-A-G c.1412A>G p.Q471R Missense 21/53 - 2
X-107834865-G-A c.1414G>A p.G472R Missense 21/53 - 3
X-107834865-G-C c.1414G>C p.G472R Missense 21/53 - 1
X-107834866-G-A c.1415G>A p.G472E Missense 21/53 - 1
X-107834867-AGT-A c.1418_1419del p.V473Efs*3 Frameshift 21/53 - 1
X-107834868-G-GT c.1418dup p.K474Efs*3 Frameshift 21/53 - 1
X-107834870-G-C c.1419G>C p.V473= Synonymous 21/53 - 1
X-107834871-A-G c.1420A>G p.K474E Missense 21/53 - 1
X-107834874-G-A c.1423G>A p.G475S Missense 21/53 - 3
X-107834875-G-A c.1423+1G>A - IntronicSNV - 21/52 2
X-107834875-G-T c.1423+1G>T - IntronicSNV - 21/52 3
X-107834930-G-GC c.1423+57dup - IntronicInsertion - 21/52 1
X-107835003-C-T c.1423+129C>T - IntronicSNV - 21/52 1
X-107835073-C-T c.1423+199C>T - IntronicSNV - 21/52 1
X-107838739-G-T c.1424G>T p.G475V Missense 22/53 - 1
X-107838742-A-G c.1427A>G p.D476G Missense 22/53 - 1
X-107838747-G-A c.1432G>A p.G478S Missense 22/53 - 1
X-107838750-G-T c.1435G>T p.D479Y Missense 22/53 - 7
X-107838756-T-A c.1441T>A p.C481S Missense 22/53 - 1
X-107838756-T-C c.1441T>C p.C481R Missense 22/53 - 1
X-107838757-G-C c.1442G>C p.C481S Missense 22/53 - 1
X-107838756-T-TG c.1442dup p.C481Wfs*64 Frameshift 22/53 - 1
X-107838758-C-A c.1443C>A p.C481* Nonsense 22/53 - 2
X-107838762-A-C c.1447A>C p.N483H Missense 22/53 - 2
X-107838765-T-G c.1450T>G p.C484G Missense 22/53 - 2
X-107838768-A-G c.1453A>G p.I485V Missense 22/53 - 1
X-107838769-T-A c.1454T>A p.I485N Missense 22/53 - 1
X-107838769-T-C c.1454T>C p.I485T Missense 22/53 - 1
X-107838772-G-A c.1457G>A p.G486E Missense 22/53 - 3
X-107838773-A-C c.1458A>C p.G486= Synonymous 22/53 - 1
X-107838773-A-G c.1458A>G p.G486= Synonymous 22/53 - 1
X-107838776-T-C c.1461T>C p.T487= Synonymous 22/53 - 2
X-107838778-G-C c.1463G>C p.G488A Missense 22/53 - 1
X-107838784-C-T c.1469C>T p.S490L Missense 22/53 - 4
X-107838786-G-A c.1471G>A p.G491R Missense 22/53 - 4
X-107838786-G-C c.1471G>C p.G491R Missense 22/53 - 3
X-107838787-G-A c.1472G>A p.G491E Missense 22/53 - 5
X-107838789-C-G c.1474C>G p.P492A Missense 22/53 - 2
X-107838789-C-T c.1474C>T p.P492S Missense 22/53 - 1
X-107838790-C-T c.1475C>T p.P492L Missense 22/53 - 1
X-107838793-C-T c.1478C>T p.P493L Missense 22/53 - 1
X-107838795-G-A c.1480G>A p.G494S Missense 22/53 - 3
X-107838795-G-C c.1480G>C p.G494R Missense 22/53 - 3
X-107838796-G-A c.1481G>A p.G494D Missense 22/53 - 4
X-107838796-G-C c.1481G>C p.G494A Missense 22/53 - 1
X-107838797-T-TC c.1483dup p.Q495Pfs*50 Frameshift 22/53 - 1
X-107838798-C-A c.1483C>A p.Q495K Missense 22/53 - 1
X-107838798-TCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG-T c.1483_1516del p.Q495Dfs*51 SpliceDonorDeletion 22/53 - 1
X-107838801-C-G c.1486C>G p.P496A Missense 22/53 - 1
X-107838804-G-T c.1489G>T p.G497C Missense 22/53 - 3
X-107838809-G-C c.1494G>C p.L498F Missense 22/53 - 1
X-107838809-G-T c.1494G>T p.L498F Missense 22/53 - 2
X-107838811-C-T c.1496C>T p.P499L Missense 22/53 - 1
X-107838813-G-C c.1498G>C p.G500R Missense 22/53 - 3
X-107838814-G-T c.1499G>T p.G500V Missense 22/53 - 1
X-107838818-C-A c.1503C>A p.L501= Synonymous 22/53 - 2
X-107838818-C-G c.1503C>G p.L501= Synonymous 22/53 - 2
X-107838818-C-T c.1503C>T p.L501= Synonymous 22/53 - 5
X-107838819-C-G c.1504C>G p.P502A Missense 22/53 - 1
X-107838819-C-T c.1504C>T p.P502S Missense 22/53 - 1
X-107838820-C-T c.1505C>T p.P502L Missense 22/53 - 1
X-107838822-G-C c.1507G>C p.G503R Missense 22/53 - 2
X-107838823-G-T c.1508G>T p.G503V Missense 22/53 - 2
X-107838825-C-T c.1510C>T p.P504S Missense 22/53 - 7
X-107838826-C-T c.1511C>T p.P504L Missense 22/53 - 3
X-107838828-C-A c.1513C>A p.P505T Missense 22/53 - 1
X-107838829-C-G c.1514C>G p.P505R Missense 22/53 - 2
X-107838829-C-T c.1514C>T p.P505L Missense 22/53 - 1
X-107838831-G-A c.1516G>A p.G506R Missense 22/53 - 1
X-107838832-G-A c.1516+1G>A - IntronicSNV - 22/52 1
X-107840205-T-G c.1517-23T>G - IntronicSNV - 22/52 1
X-107840228-G-A c.1517G>A p.G506E Missense 23/53 - 1
X-107840230-T-C c.1519T>C p.S507P Missense 23/53 - 3
X-107840231-C-A c.1520C>A p.S507Y Missense 23/53 - 1
X-107840233-C-G c.1522C>G p.L508V Missense 23/53 - 1
X-107840236-G-A c.1525G>A p.G509S Missense 23/53 - 1
X-107840236-G-C c.1525G>C p.G509R Missense 23/53 - 2
X-107840236-G-T c.1525G>T p.G509C Missense 23/53 - 2
X-107840237-G-A c.1526G>A p.G509D Missense 23/53 - 4
X-107840243-C-A c.1532C>A p.P511H Missense 23/53 - 2
X-107840245-G-A c.1534G>A p.G512R Missense 23/53 - 1
X-107840246-G-A c.1535G>A p.G512E Missense 23/53 - 1
X-107840250-G-C c.1539G>C p.Q513H Missense 23/53 - 1
X-107840251-A-G c.1540A>G p.K514E Missense 23/53 - 1
X-107840253-AAG-A c.1542_1543del p.E516Kfs*28 Frameshift 23/53 - 1
X-107840253-A-G c.1542A>G p.K514= Synonymous 23/53 - 1
X-107840254-G-A c.1543G>A p.G515R Missense 23/53 - 2
X-107840255-G-A c.1544G>A p.G515E Missense 23/53 - 2
X-107840255-G-T c.1544G>T p.G515V Missense 23/53 - 1
X-107840256-G-A c.1545G>A p.G515= Synonymous 23/53 - 1
X-107840257-G-A c.1546G>A p.E516K Missense 23/53 - 5
X-107840257-G-C c.1546G>C p.E516Q Missense 23/53 - 2
X-107840262-A-G c.1551A>G p.K517= Synonymous 23/53 - 1
X-107840263-G-A c.1552G>A p.G518R Missense 23/53 - 1
X-107840264-G-A c.1553G>A p.G518E Missense 23/53 - 1
X-107840272-G-A c.1561G>A p.G521S Missense 23/53 - 2
X-107840272-GGT-TGA c.1561_1563delinsTGA p.G521* Nonsense 23/53 - 1
X-107840272-G-T c.1561G>T p.G521C Missense 23/53 - 3
X-107840273-G-A c.1562G>A p.G521D Missense 23/53 - 3
X-107840276-C-A c.1565C>A p.A522E Missense 23/53 - 1
X-107840276-CA-C c.1567del p.T523Lfs*34 Frameshift 23/53 - 1
X-107840281-G-A c.1570G>A p.G524S Missense 23/53 - 1
X-107840281-G-T c.1570G>T p.G524C Missense 23/53 - 2
X-107840282-G-A c.1571G>A p.G524D Missense 23/53 - 4
X-107840286-C-A c.1575C>A p.P525= Synonymous 23/53 - 1
X-107840287-A-G c.1576A>G p.K526E Missense 23/53 - 1
X-107840290-G-A c.1579G>A p.G527R Missense 23/53 - 2
X-107840290-GGA-TGT c.1579_1581delinsTGT p.G527C Missense 23/53 - 2
X-107840291-G-A c.1580G>A p.G527E Missense 23/53 - 2
X-107840291-G-C c.1580G>C p.G527A Missense 23/53 - 1
X-107840291-GGAT-G c.1580_1582del p.G527_L528delinsV MultiAAMissense 23/53 - 1
X-107840291-G-T c.1580G>T p.G527V Missense 23/53 - 1
X-107840297-C-A c.1586C>A p.P529Q Missense 23/53 - 2
X-107840299-AG-A c.1587+1del - IntronicDeletion - 23/52 1
X-107840299-G-A c.1587+1G>A - IntronicSNV - 23/52 2
X-107840335-G-T c.1587+37G>T - IntronicSNV - 23/52 1
X-107840434-A-G c.1587+136A>G - IntronicSNV - 23/52 5
X-107840434-A-T c.1587+136A>T - IntronicSNV - 23/52 4
X-107840607-G-A c.1588G>A p.G530S Missense 24/53 - 1
X-107840608-G-A c.1589G>A p.G530D Missense 24/53 - 3
X-107840613-C-T c.1594C>T p.P532S Missense 24/53 - 1
X-107840615-A-C c.1596A>C p.P532= Synonymous 24/53 - 1
X-107840615-A-G c.1596A>G p.P532= Synonymous 24/53 - 1
X-107840615-A-T c.1596A>T p.P532= Synonymous 24/53 - 2
X-107840617-G-A c.1598G>A p.G533E Missense 24/53 - 5
X-107840618-A-C c.1599A>C p.G533= Synonymous 24/53 - 1
X-107840618-A-G c.1599A>G p.G533= Synonymous 24/53 - 1
X-107840618-A-T c.1599A>T p.G533= Synonymous 24/53 - 1
X-107840625-G-A c.1606G>A p.G536S Missense 24/53 - 2
X-107840625-GGT-TGG c.1606_1608delinsTGG p.G536W Missense 24/53 - 1
X-107840625-G-T c.1606G>T p.G536C Missense 24/53 - 1
X-107840626-G-A c.1607G>A p.G536D Missense 24/53 - 4
X-107840626-G-C c.1607G>C p.G536A Missense 24/53 - 2
X-107840627-T-C c.1608T>C p.G536= Synonymous 24/53 - 1
X-107840628-G-T c.1609G>T p.A537S Missense 24/53 - 2
X-107840635-G-T c.1616G>T p.G539V Missense 24/53 - 2
X-107840636-C-T c.1617C>T p.G539= Synonymous 24/53 - 3
X-107840637-T-C c.1618T>C p.F540L Missense 24/53 - 1
X-107840641-C-T c.1622C>T p.P541L Missense 24/53 - 2
X-107840643-G-T c.1624G>T p.G542* Nonsense 24/53 - 6
X-107840644-G-A c.1625G>A p.G542E Missense 24/53 - 5
X-107840647-C-G c.1628C>G p.S543C Missense 24/53 - 2
X-107840649-A-G c.1630A>G p.K544E Missense 24/53 - 1
X-107840652-G-A c.1633G>A p.G545S Missense 24/53 - 3
X-107840652-G-C c.1633G>C p.G545R Missense 24/53 - 3
X-107840653-G-A c.1634G>A p.G545D Missense 24/53 - 2
X-107840653-G-C c.1634G>C p.G545A Missense 24/53 - 1
X-107840653-G-T c.1634G>T p.G545V Missense 24/53 - 4
X-107840655-G-C c.1636G>C p.E546Q Missense 24/53 - 1
X-107840656-A-C c.1637A>C p.E546A Missense 24/53 - 1
X-107840658-C-G c.1639C>G p.P547A Missense 24/53 - 1
X-107840658-C-T c.1639C>T p.P547S Missense 24/53 - 2
X-107840659-C-A c.1640C>A p.P547H Missense 24/53 - 3
X-107840659-C-T c.1640C>T p.P547L Missense 24/53 - 1
X-107840662-G-A c.1643G>A p.G548D Missense 24/53 - 4
X-107840664-G-A c.1645G>A p.D549N Missense 24/53 - 1
X-107840666-T-TA c.1648dup p.I550Nfs*10 Frameshift 24/53 - 1
X-107840671-T-TTC c.1652_1653insTC p.T552Pfs*6 Frameshift 24/53 - 1
X-107840672-TC-T c.1653del p.T552Lfs*5 Frameshift 24/53 - 1
X-107840674-C-A c.1655C>A p.T552N Missense 24/53 - 1
X-107840675-T-A c.1656T>A p.T552= Synonymous 24/53 - 1
X-107840675-T-C c.1656T>C p.T552= Synonymous 24/53 - 1
X-107840675-T-G c.1656T>G p.T552= Synonymous 24/53 - 2
X-107840677-T-C c.1658T>C p.F553S Missense 24/53 - 1
X-107840679-C-T c.1660C>T p.P554S Missense 24/53 - 5
X-107840682-G-A c.1663G>A p.G555R Missense 24/53 - 1
X-107840687-G-A c.1668G>A p.M556I Missense 24/53 - 5
X-107840689-A-G c.1670A>G p.K557R Missense 24/53 - 2
X-107840691-G-A c.1672G>A p.G558S Missense 24/53 - 4
X-107840691-G-C c.1672G>C p.G558R Missense 24/53 - 5
X-107840692-G-A c.1673G>A p.G558D Missense 24/53 - 8
X-107840694-G-T c.1675G>T p.D559Y Missense 24/53 - 1
X-107840697-A-T c.1678A>T p.K560* Nonsense 24/53 - 1
X-107840700-G-A c.1681G>A p.G561R Missense 24/53 - 5
X-107840700-G-C c.1681G>C p.G561R Missense 24/53 - 1
X-107840703-G-A c.1684G>A p.E562K Missense 24/53 - 1
X-107840706-T-C c.1687T>C p.L563= Synonymous 24/53 - 1
X-107840708-G-A c.1689G>A p.L563= Synonymous 24/53 - 1
X-107840709-G-A c.1690G>A p.G564S Missense 24/53 - 1
X-107840709-G-C c.1690G>C p.G564R Missense 24/53 - 2
X-107840709-G-T c.1690G>T p.G564C Missense 24/53 - 4
X-107840710-G-A c.1691G>A p.G564D Missense 24/53 - 1
X-107840713-C-T c.1694C>T p.S565F Missense 24/53 - 1
X-107840716-C-A c.1697C>A p.P566H Missense 24/53 - 1
X-107840716-C-T c.1697C>T p.P566L Missense 24/53 - 1
X-107840717-T-A c.1698T>A p.P566= Synonymous 24/53 - 2
X-107840717-T-C c.1698T>C p.P566= Synonymous 24/53 - 2
X-107840717-T-G c.1698T>G p.P566= Synonymous 24/53 - 1
X-107840719-G-A c.1700G>A p.G567E Missense 24/53 - 5
X-107840719-G-C c.1700G>C p.G567A Missense 24/53 - 4
X-107840721-G-A c.1702G>A p.A568T Missense 24/53 - 1
X-107840727-G-A c.1708G>A p.G570R Missense 24/53 - 3
X-107840728-G-A c.1709G>A p.G570E Missense 24/53 - 3
X-107840729-G-A c.1710G>A p.G570= Synonymous 24/53 - 1
X-107840736-G-A c.1717G>A p.G573S Missense 24/53 - 4
X-107840737-G-A c.1718G>A p.G573D Missense 24/53 - 5
X-107840738-T-A c.1719T>A p.G573= Synonymous 24/53 - 1
X-107840738-T-C c.1719T>C p.G573= Synonymous 24/53 - 1
X-107840738-T-G c.1719T>G p.G573= Synonymous 24/53 - 1
X-107840739-T-C c.1720T>C p.L574= Synonymous 24/53 - 1
X-107840741-A-G c.1722A>G p.L574= Synonymous 24/53 - 1
X-107840741-A-C c.1722A>C p.L574F Missense 24/53 - 1
X-107840741-A-T c.1722A>T p.L574F Missense 24/53 - 1
X-107840743-C-A c.1724C>A p.P575H Missense 24/53 - 1
X-107840743-C-T c.1724C>T p.P575L Missense 24/53 - 1
X-107840745-G-A c.1726G>A p.G576S Missense 24/53 - 3
X-107840747-C-A c.1728C>A p.G576= Synonymous 24/53 - 1
X-107840749-C-T c.1730C>T p.T577I Missense 24/53 - 1
X-107840751-C-T c.1732C>T p.P578S Missense 24/53 - 3
X-107840752-C-T c.1733C>T p.P578L Missense 24/53 - 2
X-107840754-G-A c.1735G>A p.G579R Missense 24/53 - 4
X-107840754-G-C c.1735G>C p.G579R Missense 24/53 - 1
X-107840755-G-A c.1736G>A p.G579E Missense 24/53 - 4
X-107840755-G-T c.1736G>T p.G579V Missense 24/53 - 1
X-107840757-C-T c.1738C>T p.Q580* Nonsense 24/53 - 3
X-107840758-CAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCTGTGAGTTGGTTTGATATT-C c.1739_1779+18del - SpliceDonorDeletion 24/53 24/52 1
X-107840762-T-A c.1743T>A p.D581E Missense 24/53 - 1
X-107840762-T-G c.1743T>G p.D581E Missense 24/53 - 1
X-107840763-G-A c.1744G>A p.G582R Missense 24/53 - 3
X-107840763-GGA-AGC c.1744_1746delinsAGC p.G582S Missense 24/53 - 1
X-107840763-GGA-TGG c.1744_1746delinsTGG p.G582W Missense 24/53 - 1
X-107840769-C-T c.1750C>T p.P584S Missense 24/53 - 1
X-107840767-TGCCAGG-T c.1751_1756del p.P584_G585del InFrameDeletion 24/53 - 3
X-107840771-CAGG-C c.1752_1754del p.G585del InFrameDeletion 24/53 - 1
X-107840773-G-C c.1754G>C p.G585A Missense 24/53 - 2
X-107840775-C-A c.1756C>A p.L586I Missense 24/53 - 1
X-107840776-CTTCCTGGCCCGAAA-C c.1757_1770del p.L586Rfs*9 Frameshift 24/53 - 1
X-107840778-C-T c.1759C>T p.P587S Missense 24/53 - 4
X-107840777-TC-T c.1760del p.P587Lfs*31 Frameshift 24/53 - 1
X-107840781-G-A c.1762G>A p.G588S Missense 24/53 - 1
X-107840782-G-A c.1763G>A p.G588D Missense 24/53 - 1
X-107840784-C-A c.1765C>A p.P589T Missense 24/53 - 1
X-107840784-C-T c.1765C>T p.P589S Missense 24/53 - 4
X-107840785-C-A c.1766C>A p.P589Q Missense 24/53 - 1
X-107840786-G-A c.1767G>A p.P589= Synonymous 24/53 - 2
X-107840787-A-G c.1768A>G p.K590E Missense 24/53 - 2
X-107840788-A-C c.1769A>C p.K590T Missense 24/53 - 4
X-107840789-A-T c.1770A>T p.K590N Missense 24/53 - 1
X-107840790-G-A c.1771G>A p.G591R Missense 24/53 - 3
X-107840790-G-T c.1771G>T p.G591* Nonsense 24/53 - 2
X-107840791-G-A c.1772G>A p.G591E Missense 24/53 - 3
X-107840791-G-T c.1772G>T p.G591V Missense 24/53 - 1
X-107840792-A-C c.1773A>C p.G591= Synonymous 24/53 - 2
X-107840792-A-G c.1773A>G p.G591= Synonymous 24/53 - 3
X-107840792-A-T c.1773A>T p.G591= Synonymous 24/53 - 2
X-107840793-G-C c.1774G>C p.E592Q Missense 24/53 - 1
X-107840796-C-T c.1777C>T p.P593S Missense 24/53 - 1
X-107840797-C-T c.1778C>T p.P593L Missense 24/53 - 1
X-107840798-T-A c.1779T>A p.P593= Synonymous 24/53 - 1
X-107840798-T-C c.1779T>C p.P593= Synonymous 24/53 - 2
X-107840798-T-G c.1779T>G p.P593= Synonymous 24/53 - 1
X-107840799-G-A c.1779+1G>A - IntronicSNV - 24/52 1
X-107840799-G-T c.1779+1G>T - IntronicSNV - 24/52 1
X-107840801-G-C c.1779+3G>C - IntronicSNV - 24/52 2
X-107841932-G-A c.1780G>A p.G594S Missense 25/53 - 3
X-107841932-G-C c.1780G>C p.G594R Missense 25/53 - 2
X-107841932-GG-AA c.1780_1781delinsAA p.G594N Missense 25/53 - 1
X-107841933-G-A c.1781G>A p.G594D Missense 25/53 - 5
X-107841933-G-T c.1781G>T p.G594V Missense 25/53 - 1
X-107841935-G-A c.1783G>A p.G595R Missense 25/53 - 2
X-107841936-G-A c.1784G>A p.G595E Missense 25/53 - 3
X-107841937-A-C c.1785A>C p.G595= Synonymous 25/53 - 1
X-107841937-A-G c.1785A>G p.G595= Synonymous 25/53 - 1
X-107841937-A-T c.1785A>T p.G595= Synonymous 25/53 - 1
X-107841941-A-G c.1789A>G p.T597A Missense 25/53 - 1
X-107841942-C-A c.1790C>A p.T597N Missense 25/53 - 1
X-107841949-G-T c.1797G>T p.K599N Missense 25/53 - 1
X-107841951-G-A c.1799G>A p.G600D Missense 25/53 - 2
X-107841951-G-T c.1799G>T p.G600V Missense 25/53 - 2
X-107841953-GA-TC c.1801_1802inv p.E601S Missense 25/53 - 1
X-107841957-G-A c.1805G>A p.R602K Missense 25/53 - 5
X-107841957-G-T c.1805G>T p.R602I Missense 25/53 - 1
X-107841959-G-A c.1807G>A p.G603S Missense 25/53 - 3
X-107841959-G-C c.1807G>C p.G603R Missense 25/53 - 1
X-107841959-GG-AC c.1807_1808delinsAC p.G603T Missense 25/53 - 1
X-107841959-G-T c.1807G>T p.G603C Missense 25/53 - 1
X-107841960-G-T c.1808G>T p.G603V Missense 25/53 - 3
X-107841962-C-A c.1810C>A p.P604T Missense 25/53 - 2
X-107841962-C-T c.1810C>T p.P604S Missense 25/53 - 1
X-107841963-C-T c.1811C>T p.P604L Missense 25/53 - 2
X-107841965-C-A c.1813C>A p.P605T Missense 25/53 - 1
X-107841966-C-A c.1814C>A p.P605H Missense 25/53 - 3
X-107841968-G-A c.1816G>A p.G606R Missense 25/53 - 1
X-107841968-G-T c.1816G>T p.G606W Missense 25/53 - 1
X-107841970-G-A c.1818G>A p.G606= Synonymous 25/53 - 3
X-107841975-C-A c.1823C>A p.P608Q Missense 25/53 - 1
X-107841977-G-A c.1825G>A p.G609S Missense 25/53 - 2
X-107841977-G-C c.1825G>C p.G609R Missense 25/53 - 4
X-107841978-G-A c.1826G>A p.G609D Missense 25/53 - 4
X-107841978-G-C c.1826G>C p.G609A Missense 25/53 - 1
X-107841978-G-T c.1826G>T p.G609V Missense 25/53 - 4
X-107841982-A-T c.1830A>T p.L610F Missense 25/53 - 1
X-107841984-C-T c.1832C>T p.P611L Missense 25/53 - 1
X-107841986-G-A c.1834G>A p.G612S Missense 25/53 - 2
X-107841986-G-C c.1834G>C p.G612R Missense 25/53 - 1
X-107841986-G-T c.1834G>T p.G612C Missense 25/53 - 1
X-107841987-G-A c.1835G>A p.G612D Missense 25/53 - 3
X-107841987-G-T c.1835G>T p.G612V Missense 25/53 - 1
X-107841995-G-A c.1843G>A p.G615R Missense 25/53 - 4
X-107841995-G-C c.1843G>C p.G615R Missense 25/53 - 3
X-107841996-G-A c.1844G>A p.G615E Missense 25/53 - 2
X-107841996-G-C c.1844G>C p.G615A Missense 25/53 - 1
X-107841994-AG-A c.1845del p.N616Ifs*2 Frameshift 25/53 - 1
X-107841997-G-A c.1845G>A p.G615= Synonymous 25/53 - 7
X-107841997-G-C c.1845G>C p.G615= Synonymous 25/53 - 2
X-107841997-G-T c.1845G>T p.G615= Synonymous 25/53 - 2
X-107841993-CAGGGAATAT-C c.1846_1854del p.N616_G618del InFrameDeletion 25/53 - 1
X-107841998-A-T c.1846A>T p.N616Y Missense 25/53 - 1
X-107842000-T-A c.1848T>A p.N616K Missense 25/53 - 1
X-107842000-T-G c.1848T>G p.N616K Missense 25/53 - 1
X-107842004-AGGG-A c.1852_1854del p.G618del InFrameDeletion 25/53 - 1
X-107842004-G-A c.1852G>A p.G618R Missense 25/53 - 1
X-107842004-G-C c.1852G>C p.G618R Missense 25/53 - 1
X-107842005-G-T c.1853G>T p.G618V Missense 25/53 - 1
X-107842007-C-T c.1855C>T p.P619S Missense 25/53 - 4
X-107842008-C-T c.1856C>T p.P619L Missense 25/53 - 3
X-107842010-A-G c.1858A>G p.M620V Missense 25/53 - 1
X-107842013-G-A c.1861G>A p.G621S Missense 25/53 - 1
X-107842013-G-T c.1861G>T p.G621C Missense 25/53 - 5
X-107842014-G-C c.1862G>C p.G621A Missense 25/53 - 1
X-107842014-G-T c.1862G>T p.G621V Missense 25/53 - 2
X-107842016-C-T c.1864C>T p.P622S Missense 25/53 - 2
X-107842023-G-A c.1871G>A p.G624D Missense 25/53 - 44
X-107842023-G-T c.1871G>T p.G624V Missense 25/53 - 2
X-107842023-GT-AG c.1871_1872delinsAG p.G624E Missense 25/53 - 1
X-107842027-C-T c.1875C>T p.F625= Synonymous 25/53 - 3
X-107842028-G-A c.1876G>A p.G626S Missense 25/53 - 2
X-107842029-G-C c.1877G>C p.G626A Missense 25/53 - 2
X-107842031-C-T c.1879C>T p.P627S Missense 25/53 - 1
X-107842032-C-T c.1880C>T p.P627L Missense 25/53 - 4
X-107842034-C-A c.1882C>A p.P628T Missense 25/53 - 2
X-107842035-C-A c.1883C>A p.P628Q Missense 25/53 - 1
X-107842035-C-T c.1883C>T p.P628L Missense 25/53 - 15
X-107842037-G-T c.1885G>T p.G629C Missense 25/53 - 1
X-107842038-G-A c.1886G>A p.G629D Missense 25/53 - 4
X-107842041-C-A c.1889C>A p.P630Q Missense 25/53 - 1
X-107842041-C-T c.1889C>T p.P630L Missense 25/53 - 1
X-107842046-G-A c.1894G>A p.G632S Missense 25/53 - 1
X-107842046-G-C c.1894G>C p.G632R Missense 25/53 - 4
X-107842047-G-A c.1895G>A p.G632D Missense 25/53 - 4
X-107842047-G-GC c.1895_1896insC p.E633* Nonsense 25/53 - 1
X-107842049-G-A c.1897G>A p.E633K Missense 25/53 - 6
X-107842051-A-C c.1899A>C p.E633D Missense 25/53 - 1
X-107842051-A-T c.1899A>T p.E633D Missense 25/53 - 1
X-107842054-A-G c.1902A>G p.K634= Synonymous 25/53 - 1
X-107842055-G-A c.1903G>A p.G635S Missense 25/53 - 1
X-107842055-G-T c.1903G>T p.G635C Missense 25/53 - 1
X-107842056-G-A c.1904G>A p.G635D Missense 25/53 - 5
X-107842056-GC-AG c.1904_1905delinsAG p.G635E Missense 25/53 - 2
X-107842056-G-T c.1904G>T p.G635V Missense 25/53 - 2
X-107842058-A-G c.1906A>G p.I636V Missense 25/53 - 1
X-107842061-C-A c.1909C>A p.Q637K Missense 25/53 - 1
X-107842061-C-T c.1909C>T p.Q637* Nonsense 25/53 - 1
X-107842062-A-G c.1910A>G p.Q637R Missense 25/53 - 1
X-107842064-G-A c.1912G>A p.G638S Missense 25/53 - 5
X-107842065-G-A c.1913G>A p.G638D Missense 25/53 - 3
X-107842065-G-C c.1913G>C p.G638A Missense 25/53 - 3
X-107842065-G-T c.1913G>T p.G638V Missense 25/53 - 4
X-107842067-G-A c.1915G>A p.V639M Missense 25/53 - 1
X-107842070-G-A c.1918G>A p.A640T Missense 25/53 - 1
X-107842074-G-A c.1922G>A p.G641E Missense 25/53 - 2
X-107842074-G-T c.1922G>T p.G641V Missense 25/53 - 1
X-107842083-G-A c.1931G>A p.G644D Missense 25/53 - 6
X-107842083-G-C c.1931G>C p.G644A Missense 25/53 - 1
X-107842083-G-T c.1931G>T p.G644V Missense 25/53 - 2
X-107842085-C-T c.1933C>T p.Q645* Nonsense 25/53 - 2
X-107842087-G-GC c.1937dup p.G647Rfs*6 Frameshift 25/53 - 1
X-107842091-G-A c.1939G>A p.G647R Missense 25/53 - 6
X-107842091-G-C c.1939G>C p.G647R Missense 25/53 - 3
X-107842092-G-T c.1940G>T p.G647V Missense 25/53 - 1
X-107842094-A-G c.1942A>G p.I648V Missense 25/53 - 1
X-107842097-C-G c.1945C>G p.P649A Missense 25/53 - 1
X-107842097-C-T c.1945C>T p.P649S Missense 25/53 - 1
X-107842100-G-A c.1948G>A p.G650S Missense 25/53 - 3
X-107842100-G-C c.1948G>C p.G650R Missense 25/53 - 1
X-107842100-G-T c.1948G>T p.G650C Missense 25/53 - 3
X-107842101-G-A c.1948+1G>A - IntronicSNV - 25/52 2
X-107842101-G-T c.1948+1G>T - IntronicSNV - 25/52 1
X-107842994-C-G c.1948+894C>G - IntronicSNV - 25/52 2
X-107844435-T-C c.1949-188T>C - IntronicSNV - 25/52 1
X-107844623-G-A c.1949G>A p.G650D Missense 26/53 - 3
X-107844631-G-A c.1957G>A p.G653R Missense 26/53 - 6
X-107844631-G-C c.1957G>C p.G653R Missense 26/53 - 1
X-107844631-G-T c.1957G>T p.G653W Missense 26/53 - 1
X-107844632-G-T c.1958G>T p.G653V Missense 26/53 - 3
X-107844633-G-A c.1959G>A p.G653= Synonymous 26/53 - 1
X-107844633-G-T c.1959G>T p.G653= Synonymous 26/53 - 1
X-107844630-AG-A c.1960del p.D654Ifs*6 Frameshift 26/53 - 1
X-107844634-G-A c.1960G>A p.D654N Missense 26/53 - 4
X-107844634-G-C c.1960G>C p.D654H Missense 26/53 - 1
X-107844634-G-T c.1960G>T p.D654Y Missense 26/53 - 3
X-107844636-T-A c.1962T>A p.D654E Missense 26/53 - 1
X-107844636-T-G c.1962T>G p.D654E Missense 26/53 - 1
X-107844637-C-T c.1963C>T p.P655S Missense 26/53 - 2
X-107844638-C-A c.1964C>A p.P655Q Missense 26/53 - 1
X-107844640-G-A c.1966G>A p.G656S Missense 26/53 - 2
X-107844640-G-C c.1966G>C p.G656R Missense 26/53 - 1
X-107844643-C-A c.1969C>A p.Q657K Missense 26/53 - 1
X-107844644-A-G c.1970A>G p.Q657R Missense 26/53 - 2
X-107844645-G-T c.1971G>T p.Q657H Missense 26/53 - 1
X-107844646-A-C c.1972A>C p.T658P Missense 26/53 - 2
X-107844646-A-G c.1972A>G p.T658A Missense 26/53 - 1
X-107844646-A-T c.1972A>T p.T658S Missense 26/53 - 1
X-107844649-A-G c.1975A>G p.I659V Missense 26/53 - 2
X-107844650-T-C c.1976T>C p.I659T Missense 26/53 - 1
X-107844653-C-T c.1979C>T p.T660I Missense 26/53 - 1
X-107844659-C-A c.1985C>A p.P662Q Missense 26/53 - 1
X-107844659-C-T c.1985C>T p.P662L Missense 26/53 - 1
X-107844663-GAAGCCTGGCTTGCCTGGT-G c.1992_2009del p.K664_G669del InFrameDeletion 26/53 - 1
X-107844666-G-A c.1992G>A p.K664= Synonymous 26/53 - 5
X-107844666-G-C c.1992G>C p.K664N Missense 26/53 - 3
X-107844666-G-T c.1992G>T p.K664N Missense 26/53 - 10
X-107844667-C-T c.1993C>T p.P665S Missense 26/53 - 1
X-107844671-G-A c.1997G>A p.G666D Missense 26/53 - 2
X-107844671-G-C c.1997G>C p.G666A Missense 26/53 - 1
X-107844671-GC-AG c.1997_1998delinsAG p.G666E Missense 26/53 - 2
X-107844671-G-T c.1997G>T p.G666V Missense 26/53 - 1
X-107844675-G-C c.2001G>C p.L667F Missense 26/53 - 1
X-107844675-G-T c.2001G>T p.L667F Missense 26/53 - 1
X-107844677-C-T c.2003C>T p.P668L Missense 26/53 - 1
X-107844679-G-A c.2005G>A p.G669S Missense 26/53 - 2
X-107844679-G-C c.2005G>C p.G669R Missense 26/53 - 3
X-107844679-G-T c.2005G>T p.G669C Missense 26/53 - 3
X-107844680-G-A c.2006G>A p.G669D Missense 26/53 - 1
X-107844680-G-C c.2006G>C p.G669A Missense 26/53 - 7
X-107844688-G-A c.2014G>A p.G672S Missense 26/53 - 1
X-107844688-G-C c.2014G>C p.G672R Missense 26/53 - 2
X-107844689-G-A c.2015G>A p.G672D Missense 26/53 - 2
X-107844690-C-A c.2016C>A p.G672= Synonymous 26/53 - 1
X-107844690-C-G c.2016C>G p.G672= Synonymous 26/53 - 1
X-107844690-C-T c.2016C>T p.G672= Synonymous 26/53 - 2
X-107844691-A-G c.2017A>G p.R673G Missense 26/53 - 2
X-107844692-AG-A c.2018del p.R673Kfs*5 Frameshift 26/53 - 1
X-107844691-A-C c.2017A>C p.R673= Synonymous 26/53 - 1
X-107844693-A-G c.2019A>G p.R673= Synonymous 26/53 - 1
X-107844693-A-T c.2019A>T p.R673S Missense 26/53 - 1
X-107844694-G-A c.2020G>A p.D674N Missense 26/53 - 1
X-107844697-G-A c.2023G>A p.G675S Missense 26/53 - 5
X-107844693-AGATGGT-A c.2024_2029del p.G675_D676del InFrameDeletion 26/53 - 1
X-107844698-G-A c.2024G>A p.G675D Missense 26/53 - 2
X-107844699-T-A c.2025T>A p.G675= Synonymous 26/53 - 1
X-107844699-T-C c.2025T>C p.G675= Synonymous 26/53 - 1
X-107844699-T-G c.2025T>G p.G675= Synonymous 26/53 - 1
X-107844701-A-C c.2027A>C p.D676A Missense 26/53 - 1
X-107844703-G-A c.2029G>A p.V677I Missense 26/53 - 2
X-107844706-G-T c.2032G>T p.G678C Missense 26/53 - 1
X-107844709-C-G c.2035C>G p.L679V Missense 26/53 - 1
X-107844709-C-T c.2035C>T p.L679F Missense 26/53 - 3
X-107844712-C-A c.2038C>A p.P680T Missense 26/53 - 2
X-107844712-C-T c.2038C>T p.P680S Missense 26/53 - 1
X-107844713-C-T c.2039C>T p.P680L Missense 26/53 - 4
X-107844715-G-A c.2041G>A p.G681S Missense 26/53 - 3
X-107844716-G-T c.2041+1G>T - IntronicSNV - 26/52 1
X-107844759-T-G c.2041+44T>G - IntronicSNV - 26/52 1
X-107844758-CT-C c.2041+61del - IntronicDeletion - 26/52 3
X-107844780-A-G c.2041+65A>G - IntronicSNV - 26/52 5
X-107845111-A-G c.2042-4A>G - IntronicSNV - 26/52 1
X-107845115-G-A c.2042G>A p.G681D Missense 27/53 - 4
X-107845118-A-G c.2045A>G p.D682G Missense 27/53 - 1
X-107845118-AC-A c.2048del p.P683Lfs*53 Frameshift 27/53 - 1
X-107845121-CCTG-C c.2048_2050del p.P683_G684delinsR MultiAAMissense 27/53 - 2
X-107845122-CTGG-C c.2049_2051del p.G684del InFrameDeletion 27/53 - 1
X-107845123-G-T c.2050G>T p.G684* Nonsense 27/53 - 1
X-107845124-G-T c.2051G>T p.G684V Missense 27/53 - 4
X-107845125-A-G c.2052A>G p.G684= Synonymous 27/53 - 1
X-107845128-T-C c.2055T>C p.L685= Synonymous 27/53 - 8
X-107845129-C-T c.2056C>T p.P686S Missense 27/53 - 1
X-107845129-TCCAGGGCA-T c.2056_2063del p.P686Tfs*9 Frameshift 27/53 - 1
X-107845128-TC-T c.2057del p.P686Qfs*50 Frameshift 27/53 - 3
X-107845133-G-A c.2060G>A p.G687E Missense 27/53 - 5
X-107845134-G-A c.2061G>A p.G687= Synonymous 27/53 - 3
X-107845134-G-C c.2061G>C p.G687= Synonymous 27/53 - 3
X-107845134-G-T c.2061G>T p.G687= Synonymous 27/53 - 3
X-107845135-C-T c.2062C>T p.Q688* Nonsense 27/53 - 2
X-107845137-A-C c.2064A>C p.Q688H Missense 27/53 - 1
X-107845137-A-T c.2064A>T p.Q688H Missense 27/53 - 1
X-107845144-T-A c.2071T>A p.L691M Missense 27/53 - 1
X-107845146-G-C c.2073G>C p.L691F Missense 27/53 - 2
X-107845146-G-T c.2073G>T p.L691F Missense 27/53 - 3
X-107845147-C-G c.2074C>G p.P692A Missense 27/53 - 1
X-107845147-C-T c.2074C>T p.P692S Missense 27/53 - 1
X-107845148-C-T c.2075C>T p.P692L Missense 27/53 - 1
X-107845150-G-A c.2077G>A p.G693R Missense 27/53 - 3
X-107845151-G-A c.2078G>A p.G693E Missense 27/53 - 5
X-107845151-G-T c.2078G>T p.G693V Missense 27/53 - 1
X-107845152-G-A c.2079G>A p.G693= Synonymous 27/53 - 2
X-107845153-A-G c.2080A>G p.I694V Missense 27/53 - 1
X-107845153-GA-G c.2080del p.I694Yfs*42 Frameshift 27/53 - 1
X-107845155-A-G c.2082A>G p.I694M Missense 27/53 - 1
X-107845157-C-T c.2084C>T p.P695L Missense 27/53 - 1
X-107845159-G-C c.2086G>C p.G696R Missense 27/53 - 1
X-107845160-G-A c.2087G>A p.G696D Missense 27/53 - 2
X-107845160-G-C c.2087G>C p.G696A Missense 27/53 - 1
X-107845160-G-GTTCTCCT c.2088_2089insTCTCCTT p.K698Pfs*2 Frameshift 27/53 - 1
X-107845162-A-T c.2089A>T p.S697C Missense 27/53 - 2
X-107845164-CAAAGGAG-C c.2094_2100del p.K698Nfs*36 Frameshift 27/53 - 1
X-107845168-G-A c.2095G>A p.G699R Missense 27/53 - 3
X-107845168-G-C c.2095G>C p.G699R Missense 27/53 - 1
X-107845170-A-C c.2097A>C p.G699= Synonymous 27/53 - 1
X-107845170-A-G c.2097A>G p.G699= Synonymous 27/53 - 1
X-107845170-A-T c.2097A>T p.G699= Synonymous 27/53 - 1
X-107845171-GA-AG c.2098_2099delinsAG p.E700R Missense 27/53 - 1
X-107845171-G-T c.2098G>T p.E700* Nonsense 27/53 - 3
X-107845172-A-T c.2099A>T p.E700V Missense 27/53 - 2
X-107845175-C-T c.2102C>T p.P701L Missense 27/53 - 1
X-107845177-G-A c.2104G>A p.G702S Missense 27/53 - 1
X-107845180-A-G c.2107A>G p.I703V Missense 27/53 - 3
X-107845181-T-C c.2108T>C p.I703T Missense 27/53 - 1
X-107845182-C-T c.2109C>T p.I703= Synonymous 27/53 - 1
X-107845183-C-T c.2110C>T p.P704S Missense 27/53 - 4
X-107845187-G-A c.2114G>A p.G705E Missense 27/53 - 1
X-107845188-A-G c.2115A>G p.G705= Synonymous 27/53 - 2
X-107845189-A-G c.2116A>G p.I706V Missense 27/53 - 2
X-107845192-G-A c.2119G>A p.G707R Missense 27/53 - 1
X-107845193-G-A c.2120G>A p.G707E Missense 27/53 - 2
X-107845193-G-C c.2120G>C p.G707A Missense 27/53 - 1
X-107845199-C-T c.2126C>T p.P709L Missense 27/53 - 1
X-107845200-T-A c.2127T>A p.P709= Synonymous 27/53 - 1
X-107845200-T-C c.2127T>C p.P709= Synonymous 27/53 - 1
X-107845200-T-G c.2127T>G p.P709= Synonymous 27/53 - 1
X-107845202-G-A c.2129G>A p.G710E Missense 27/53 - 4
X-107845203-GACCACC-G c.2130_2135del p.P711_P712del InFrameDeletion 27/53 - 1
X-107845202-GACC-G c.2133_2135del p.P712del InFrameDeletion 27/53 - 1
X-107845207-C-G c.2134C>G p.P712A Missense 27/53 - 1
X-107845210-G-A c.2137G>A p.G713S Missense 27/53 - 1
X-107845213-C-T c.2140C>T p.P714S Missense 27/53 - 2
X-107845218-A-G c.2145A>G p.K715= Synonymous 27/53 - 1
X-107845219-G-C c.2146G>C p.G716R Missense 27/53 - 2
X-107845221-T-A c.2146+2T>A - IntronicSNV - 27/52 1
X-107845222-A-C c.2146+3A>C - IntronicSNV - 27/52 1
X-107846192-AG-A c.2147del p.G716Afs*20 Frameshift 28/53 - 1
X-107846199-C-T c.2152C>T p.P718S Missense 28/53 - 6
X-107846202-G-A c.2155G>A p.G719R Missense 28/53 - 2
X-107846202-G-C c.2155G>C p.G719R Missense 28/53 - 3
X-107846202-GG-AA c.2155_2156delinsAA p.G719K Missense 28/53 - 1
X-107846203-G-A c.2156G>A p.G719E Missense 28/53 - 2
X-107846203-G-T c.2156G>T p.G719V Missense 28/53 - 2
X-107846204-A-G c.2157A>G p.G719= Synonymous 28/53 - 1
X-107846208-C-T c.2161C>T p.P721S Missense 28/53 - 2
X-107846211-G-A c.2164G>A p.G722R Missense 28/53 - 1
X-107846211-G-C c.2164G>C p.G722R Missense 28/53 - 3
X-107846211-GGA-AGC c.2164_2166delinsAGC p.G722S Missense 28/53 - 1
X-107846212-G-A c.2165G>A p.G722E Missense 28/53 - 5
X-107846215-C-G c.2168C>G p.P723R Missense 28/53 - 1
X-107846217-C-T c.2170C>T p.P724S Missense 28/53 - 1
X-107846218-C-A c.2171C>A p.P724Q Missense 28/53 - 1
X-107846219-A-T c.2172A>T p.P724= Synonymous 28/53 - 1
X-107846220-G-T c.2173G>T p.G725* Nonsense 28/53 - 3
X-107846223-G-T c.2176G>T p.A726S Missense 28/53 - 1
X-107846227-C-G c.2180C>G p.P727R Missense 28/53 - 1
X-107846227-C-T c.2180C>T p.P727L Missense 28/53 - 1
X-107846229-G-A c.2182G>A p.G728R Missense 28/53 - 1
X-107846230-G-A c.2183G>A p.G728E Missense 28/53 - 2
X-107846228-TG-T c.2184del p.T729Hfs*7 Frameshift 28/53 - 1
X-107846231-G-A c.2184G>A p.G728= Synonymous 28/53 - 1
X-107846231-G-C c.2184G>C p.G728= Synonymous 28/53 - 1
X-107846231-G-T c.2184G>T p.G728= Synonymous 28/53 - 2
X-107846235-C-A c.2188C>A p.P730T Missense 28/53 - 1
X-107846239-G-A c.2192G>A p.G731E Missense 28/53 - 1
X-107846242-G-A c.2195G>A p.R732K Missense 28/53 - 1
X-107846243-A-T c.2196A>T p.R732S Missense 28/53 - 1
X-107846245-T-C c.2198T>C p.I733T Missense 28/53 - 1
X-107846247-G-A c.2200G>A p.G734S Missense 28/53 - 2
X-107846248-G-A c.2201G>A p.G734D Missense 28/53 - 1
X-107846251-T-A c.2204T>A p.L735Q Missense 28/53 - 1
X-107846253-G-C c.2206G>C p.E736Q Missense 28/53 - 1
X-107846252-AGAAGGCCCTCCTGGGCCACCC-A c.2207_2227del p.E736_P742del InFrameDeletion 28/53 - 1
X-107846257-G-A c.2210G>A p.G737D Missense 28/53 - 2
X-107846259-C-A c.2212C>A p.P738T Missense 28/53 - 1
X-107846259-C-G c.2212C>G p.P738A Missense 28/53 - 1
X-107846259-C-T c.2212C>T p.P738S Missense 28/53 - 1
X-107846260-C-A c.2213C>A p.P738H Missense 28/53 - 1
X-107846262-C-A c.2215C>A p.P739T Missense 28/53 - 1
X-107846262-C-G c.2215C>G p.P739A Missense 28/53 - 13
X-107846262-C-T c.2215C>T p.P739S Missense 28/53 - 7
X-107846263-C-A c.2216C>A p.P739H Missense 28/53 - 3
X-107846265-G-A c.2218G>A p.G740R Missense 28/53 - 2
X-107846265-G-C c.2218G>C p.G740R Missense 28/53 - 2
X-107846265-G-T c.2218G>T p.G740W Missense 28/53 - 1
X-107846266-G-A c.2219G>A p.G740E Missense 28/53 - 5
X-107846269-C-G c.2222C>G p.P741R Missense 28/53 - 1
X-107846269-C-T c.2222C>T p.P741L Missense 28/53 - 1
X-107846271-C-A c.2224C>A p.P742T Missense 28/53 - 2
X-107846272-C-T c.2225C>T p.P742L Missense 28/53 - 1
X-107846274-G-A c.2227G>A p.G743S Missense 28/53 - 3
X-107846275-G-A c.2228G>A p.G743D Missense 28/53 - 4
X-107846275-G-T c.2228G>T p.G743V Missense 28/53 - 1
X-107846276-C-T c.2229C>T p.G743= Synonymous 28/53 - 4
X-107846277-T-A c.2230T>A p.F744I Missense 28/53 - 1
X-107846278-T-C c.2231T>C p.F744S Missense 28/53 - 2
X-107846280-C-G c.2233C>G p.P745A Missense 28/53 - 1
X-107846280-C-T c.2233C>T p.P745S Missense 28/53 - 4
X-107846284-G-A c.2237G>A p.G746E Missense 28/53 - 4
X-107846286-C-T c.2239C>T p.P747S Missense 28/53 - 1
X-107846287-C-G c.2240C>G p.P747R Missense 28/53 - 1
X-107846291-G-T c.2244G>T p.K748N Missense 28/53 - 2
X-107846292-G-A c.2244+1G>A - IntronicSNV - 28/52 1
X-107846292-G-T c.2244+1G>T - IntronicSNV - 28/52 1
X-107846293-T-G c.2244+2T>G - IntronicSNV - 28/52 1
X-107846310-T-C c.2244+19T>C - IntronicSNV - 28/52 1
X-107846448-C-T c.2244+157C>T - IntronicSNV - 28/52 1
X-107849889-C-T c.2245-83C>T - IntronicSNV - 28/52 1
X-107849932-A-G c.2245-40A>G - IntronicSNV - 28/52 1
X-107849972-G-A c.2245G>A p.G749S Missense 29/53 - 1
X-107849973-G-A c.2246G>A p.G749D Missense 29/53 - 2
X-107849973-G-T c.2246G>T p.G749V Missense 29/53 - 1
X-107849979-C-A c.2252C>A p.P751Q Missense 29/53 - 1
X-107849982-G-A c.2255G>A p.G752E Missense 29/53 - 7
X-107849982-G-T c.2255G>T p.G752V Missense 29/53 - 2
X-107849984-T-G c.2257T>G p.F753V Missense 29/53 - 1
X-107849987-G-C c.2260G>C p.A754P Missense 29/53 - 2
X-107849988-C-T c.2261C>T p.A754V Missense 29/53 - 1
X-107849989-A-G c.2262A>G p.A754= Synonymous 29/53 - 1
X-107849991-T-A c.2264T>A p.L755* Nonsense 29/53 - 2
X-107849991-T-G c.2264T>G p.L755* Nonsense 29/53 - 3
X-107849993-C-T c.2266C>T p.P756S Missense 29/53 - 4
X-107849999-C-T c.2272C>T p.P758S Missense 29/53 - 1
X-107850002-C-A c.2275C>A p.P759T Missense 29/53 - 1
X-107850002-C-T c.2275C>T p.P759S Missense 29/53 - 1
X-107850003-C-G c.2276C>G p.P759R Missense 29/53 - 1
X-107850005-G-T c.2278G>T p.G760W Missense 29/53 - 1
X-107850012-C-A c.2285C>A p.P762Q Missense 29/53 - 1
X-107850014-G-A c.2287G>A p.G763R Missense 29/53 - 4
X-107850014-G-C c.2287G>C p.G763R Missense 29/53 - 1
X-107850015-G-A c.2288G>A p.G763E Missense 29/53 - 7
X-107850015-G-T c.2288G>T p.G763V Missense 29/53 - 2
X-107850017-C-T c.2290C>T p.L764F Missense 29/53 - 1
X-107850024-G-A c.2297G>A p.G766D Missense 29/53 - 3
X-107850024-G-T c.2297G>T p.G766V Missense 29/53 - 2
X-107850026-T-C c.2299T>C p.F767L Missense 29/53 - 1
X-107850024-G-GT c.2300dup p.K768Qfs*9 Frameshift 29/53 - 1
X-107850027-T-C c.2300T>C p.F767S Missense 29/53 - 1
X-107850029-A-G c.2302A>G p.K768E Missense 29/53 - 2
X-107850030-A-G c.2303A>G p.K768R Missense 29/53 - 1
X-107850032-G-A c.2305G>A p.G769R Missense 29/53 - 2
X-107850033-G-A c.2306G>A p.G769E Missense 29/53 - 3
X-107850033-G-T c.2306G>T p.G769V Missense 29/53 - 3
X-107850036-C-G c.2309C>G p.A770G Missense 29/53 - 2
X-107850038-C-T c.2311C>T p.L771F Missense 29/53 - 1
X-107850039-T-A c.2312T>A p.L771H Missense 29/53 - 1
X-107850041-G-A c.2314G>A p.G772S Missense 29/53 - 3
X-107850041-G-C c.2314G>C p.G772R Missense 29/53 - 1
X-107850042-G-A c.2315G>A p.G772D Missense 29/53 - 4
X-107850042-G-C c.2315G>C p.G772A Missense 29/53 - 2
X-107850042-G-T c.2315G>T p.G772V Missense 29/53 - 3
X-107850044-C-T c.2317C>T p.P773S Missense 29/53 - 4
X-107850045-C-CA c.2322dup p.G775Rfs*2 Frameshift 29/53 - 1
X-107850051-G-A c.2324G>A p.G775D Missense 29/53 - 2
X-107850051-G-C c.2324G>C p.G775A Missense 29/53 - 1
X-107850053-G-A c.2326G>A p.D776N Missense 29/53 - 3
X-107850056-CG-GC c.2329_2330delinsGC p.R777A Missense 29/53 - 1
X-107850056-C-T c.2329C>T p.R777C Missense 29/53 - 8
X-107850057-G-A c.2330G>A p.R777H Missense 29/53 - 4
X-107850059-G-A c.2332G>A p.G778S Missense 29/53 - 3
X-107850059-G-C c.2332G>C p.G778R Missense 29/53 - 4
X-107850060-G-A c.2333G>A p.G778D Missense 29/53 - 3
X-107850065-C-G c.2338C>G p.P780A Missense 29/53 - 4
X-107850066-C-T c.2339C>T p.P780L Missense 29/53 - 1
X-107850068-GGA-AGC c.2341_2343delinsAGC p.G781S Missense 29/53 - 1
X-107850072-C-T c.2345C>T p.P782L Missense 29/53 - 1
X-107850073-TC-T c.2348del p.P783Rfs*9 Frameshift 29/53 - 1
X-107850075-C-T c.2348C>T p.P783L Missense 29/53 - 2
X-107850076-G-A c.2349G>A p.P783= Synonymous 29/53 - 11
X-107850077-G-C c.2350G>C p.G784R Missense 29/53 - 1
X-107850078-G-A c.2351G>A p.G784D Missense 29/53 - 1
X-107850078-G-T c.2351G>T p.G784V Missense 29/53 - 2
X-107850080-C-G c.2353C>G p.P785A Missense 29/53 - 1
X-107850081-C-T c.2354C>T p.P785L Missense 29/53 - 3
X-107850084-C-T c.2357C>T p.P786L Missense 29/53 - 1
X-107850085-A-G c.2358A>G p.P786= Synonymous 29/53 - 1
X-107850086-G-A c.2359G>A p.G787R Missense 29/53 - 4
X-107850086-G-C c.2359G>C p.G787R Missense 29/53 - 1
X-107850086-GGA-TGT c.2359_2361delinsTGT p.G787C Missense 29/53 - 1
X-107850087-G-C c.2360G>C p.G787A Missense 29/53 - 1
X-107850087-G-T c.2360G>T p.G787V Missense 29/53 - 3
X-107850089-C-T c.2362C>T p.R788C Missense 29/53 - 4
X-107850090-G-A c.2363G>A p.R788H Missense 29/53 - 3
X-107850090-G-T c.2363G>T p.R788L Missense 29/53 - 1
X-107850092-A-C c.2365A>C p.T789P Missense 29/53 - 1
X-107850093-CT-TG c.2366_2367delinsTG p.T789M Missense 29/53 - 1
X-107850091-CACTGGCTTAGATGGGCTCCCTGG-C c.2367_2389del p.G790Kfs*3 Frameshift 29/53 - 1
X-107850092-ACTGGCTTAGATGGGCTCC-A c.2370_2387del p.L791_G796del InFrameDeletion 29/53 - 1
X-107850098-T-G c.2371T>G p.L791V Missense 29/53 - 1
X-107850100-A-G c.2373A>G p.L791= Synonymous 29/53 - 1
X-107850105-G-A c.2378G>A p.G793E Missense 29/53 - 4
X-107850105-G-C c.2378G>C p.G793A Missense 29/53 - 2
X-107850106-G-A c.2379G>A p.G793= Synonymous 29/53 - 1
X-107850106-G-C c.2379G>C p.G793= Synonymous 29/53 - 1
X-107850106-G-T c.2379G>T p.G793= Synonymous 29/53 - 1
X-107850107-C-T c.2380C>T p.L794F Missense 29/53 - 2
X-107850109-C-A c.2382C>A p.L794= Synonymous 29/53 - 1
X-107850111-C-A c.2384C>A p.P795H Missense 29/53 - 1
X-107850111-C-T c.2384C>T p.P795L Missense 29/53 - 2
X-107850113-G-A c.2386G>A p.G796R Missense 29/53 - 4
X-107850113-G-C c.2386G>C p.G796R Missense 29/53 - 2
X-107850113-GGA-AGC c.2386_2388delinsAGC p.G796S Missense 29/53 - 1
X-107850114-G-A c.2387G>A p.G796E Missense 29/53 - 1
X-107850114-G-C c.2387G>C p.G796A Missense 29/53 - 1
X-107850114-G-T c.2387G>T p.G796V Missense 29/53 - 2
X-107850116-C-T c.2389C>T p.P797S Missense 29/53 - 1
X-107850117-C-T c.2390C>T p.P797L Missense 29/53 - 2
X-107850119-A-G c.2392A>G p.K798E Missense 29/53 - 1
X-107850121-A-G c.2394A>G p.K798= Synonymous 29/53 - 4
X-107850121-A-T c.2394A>T p.K798N Missense 29/53 - 1
X-107850122-AGG-A c.2395_2395+1del - SpliceDonorDeletion 29/53 29/52 1
X-107850122-G-A c.2395G>A p.G799S Missense 29/53 - 1
X-107850123-G-A c.2395+1G>A - IntronicSNV - 29/52 2
X-107850124-GT-G c.2395+2del - IntronicDeletion - 29/52 1
X-107850124-T-A c.2395+2T>A - IntronicSNV - 29/52 1
X-107850125-A-G c.2395+3A>G - IntronicSNV - 29/52 1
X-107850335-T-A c.2395+213T>A - IntronicSNV - 29/52 3
X-107850335-T-G c.2395+213T>G - IntronicSNV - 29/52 4
X-107851397-C-G c.2395+1275C>G - IntronicSNV - 29/52 2
X-107851414-G-T c.2395+1292G>T - IntronicSNV - 29/52 2
X-107852872-A-G c.2395+2750A>G - IntronicSNV - 29/52 3
X-107858141-G-A c.2396G>A p.G799D Missense 30/53 - 3
X-107858143-G-T c.2398G>T p.D800Y Missense 30/53 - 1
X-107858145-T-A c.2400T>A p.D800E Missense 30/53 - 1
X-107858148-T-C c.2403T>C p.V801= Synonymous 30/53 - 1
X-107858149-G-A c.2404G>A p.G802R Missense 30/53 - 5
X-107858149-G-C c.2404G>C p.G802R Missense 30/53 - 2
X-107858150-G-T c.2405G>T p.G802V Missense 30/53 - 2
X-107858153-C-T c.2408C>T p.P803L Missense 30/53 - 2
X-107858158-G-A c.2413G>A p.G805R Missense 30/53 - 1
X-107858159-G-A c.2414G>A p.G805E Missense 30/53 - 3
X-107858159-G-T c.2414G>T p.G805V Missense 30/53 - 1
X-107858161-C-T c.2416C>T p.Q806* Nonsense 30/53 - 1
X-107858162-A-G c.2417A>G p.Q806R Missense 30/53 - 1
X-107858165-C-G c.2420C>G p.P807R Missense 30/53 - 2
X-107858167-G-A c.2422G>A p.G808R Missense 30/53 - 1
X-107858167-G-C c.2422G>C p.G808R Missense 30/53 - 1
X-107858166-TG-T c.2423del p.G808Dfs*11 Frameshift 30/53 - 1
X-107858168-G-A c.2423G>A p.G808E Missense 30/53 - 5
X-107858168-G-T c.2423G>T p.G808V Missense 30/53 - 1
X-107858168-GACCA-G c.2425_2428del p.P809Wfs*9 Frameshift 30/53 - 1
X-107858171-C-T c.2426C>T p.P809L Missense 30/53 - 1
X-107858173-A-G c.2428A>G p.M810V Missense 30/53 - 2
X-107858175-G-A c.2430G>A p.M810I Missense 30/53 - 1
X-107858175-G-T c.2430G>T p.M810I Missense 30/53 - 1
X-107858176-G-A c.2431G>A p.G811R Missense 30/53 - 4
X-107858176-G-C c.2431G>C p.G811R Missense 30/53 - 1
X-107858176-GG-CT c.2431_2432delinsCT p.G811L Missense 30/53 - 1
X-107858176-GG-TT c.2431_2432delinsTT p.G811L Missense 30/53 - 1
X-107858176-G-T c.2431G>T p.G811* Nonsense 30/53 - 1
X-107858177-G-T c.2432G>T p.G811V Missense 30/53 - 5
X-107858179-CCTCCTGG-AACCTGGACCAATGGGACCAATGGGAACAC c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC p.P812Nfs*50 Frameshift 30/53 - 1
X-107858179-C-T c.2434C>T p.P812S Missense 30/53 - 2
X-107858180-C-A c.2435C>A p.P812H Missense 30/53 - 1
X-107858182-C-T c.2437C>T p.P813S Missense 30/53 - 1
X-107858188-C-T c.2443C>T p.L815= Synonymous 30/53 - 1
X-107858193-A-T c.2448A>T p.P816= Synonymous 30/53 - 1
X-107858195-G-A c.2450G>A p.G817E Missense 30/53 - 2
X-107858200-G-A c.2455G>A p.G819S Missense 30/53 - 1
X-107858209-G-A c.2464G>A p.G822R Missense 30/53 - 2
X-107858209-G-C c.2464G>C p.G822R Missense 30/53 - 3
X-107858210-G-A c.2465G>A p.G822E Missense 30/53 - 2
X-107858210-GA-AC c.2465_2466delinsAC p.G822D Missense 30/53 - 1
X-107858210-G-T c.2465G>T p.G822V Missense 30/53 - 3
X-107858212-C-T c.2467C>T p.P823S Missense 30/53 - 3
X-107858216-C-A c.2471C>A p.P824Q Missense 30/53 - 1
X-107858216-C-CA c.2472dup p.G825Rfs*30 Frameshift 30/53 - 1
X-107858218-G-A c.2473G>A p.G825R Missense 30/53 - 4
X-107858218-G-C c.2473G>C p.G825R Missense 30/53 - 2
X-107858218-G-T c.2473G>T p.G825* Nonsense 30/53 - 2
X-107858219-G-A c.2474G>A p.G825E Missense 30/53 - 2
X-107858208-GGGACCACCA-G c.2475_2483del p.P826_G828del InFrameDeletion 30/53 - 2
X-107858220-A-T c.2475A>T p.G825= Synonymous 30/53 - 1
X-107858220-AC-A c.2477del p.P826Hfs*8 Frameshift 30/53 - 2
X-107858222-C-A c.2477C>A p.P826Q Missense 30/53 - 3
X-107858225-C-A c.2480C>A p.P827Q Missense 30/53 - 3
X-107858227-G-A c.2482G>A p.G828R Missense 30/53 - 8
X-107858227-G-C c.2482G>C p.G828R Missense 30/53 - 3
X-107858227-GGG-AGC c.2482_2484delinsAGC p.G828S Missense 30/53 - 1
X-107858227-G-T c.2482G>T p.G828W Missense 30/53 - 1
X-107858228-G-A c.2483G>A p.G828E Missense 30/53 - 3
X-107858228-GG-AC c.2483_2484delinsAC p.G828D Missense 30/53 - 3
X-107858228-GG-AT c.2483_2484delinsAT p.G828D Missense 30/53 - 1
X-107858229-G-A c.2484G>A p.G828= Synonymous 30/53 - 3
X-107858229-G-C c.2484G>C p.G828= Synonymous 30/53 - 1
X-107858229-G-T c.2484G>T p.G828= Synonymous 30/53 - 2
X-107858231-T-A c.2486T>A p.I829N Missense 30/53 - 2
X-107858236-G-C c.2491G>C p.G831R Missense 30/53 - 1
X-107858236-G-T c.2491G>T p.G831W Missense 30/53 - 1
X-107858238-G-A c.2493G>A p.G831= Synonymous 30/53 - 2
X-107858239-C-T c.2494C>T p.P832S Missense 30/53 - 1
X-107858242-A-G c.2497A>G p.I833V Missense 30/53 - 1
X-107858245-G-C c.2500G>C p.G834R Missense 30/53 - 2
X-107858246-G-A c.2501G>A p.G834D Missense 30/53 - 1
X-107858254-G-A c.2509G>A p.G837S Missense 30/53 - 5
X-107858256-T-G c.2509+2T>G - IntronicSNV - 30/52 1
X-107858304-T-G c.2509+50T>G - IntronicSNV - 30/52 3
X-107858352-A-C c.2509+98A>C - IntronicSNV - 30/52 1
X-107858352-A-G c.2509+98A>G - IntronicSNV - 30/52 1
X-107858352-A-T c.2509+98A>T - IntronicSNV - 30/52 1
X-107858399-T-A c.2509+145T>A - IntronicSNV - 30/52 2
X-107859872-C-T c.2509+1618C>T - IntronicSNV - 30/52 1
X-107863487-A-G c.2510-2A>G - IntronicSNV - 30/52 1
X-107863487-AG-A c.2510del p.G837Vfs*38 Frameshift 31/53 - 1
X-107863491-TTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTGGACTTGATGTTCCAGG-T c.2512_2570del p.L838Tfs*4 Unclassified 31/53 - 1
X-107863495-A-C c.2516A>C p.H839P Missense 31/53 - 1
X-107863497-G-A c.2518G>A p.G840R Missense 31/53 - 2
X-107863497-GG-AA c.2518_2519delinsAA p.G840K Missense 31/53 - 1
X-107863498-G-A c.2519G>A p.G840E Missense 31/53 - 2
X-107863498-G-C c.2519G>C p.G840A Missense 31/53 - 1
X-107863499-A-C c.2520A>C p.G840= Synonymous 31/53 - 1
X-107863499-A-G c.2520A>G p.G840= Synonymous 31/53 - 1
X-107863499-A-T c.2520A>T p.G840= Synonymous 31/53 - 1
X-107863507-GA-AC c.2528_2529delinsAC p.G843D Missense 31/53 - 1
X-107863509-G-A c.2530G>A p.E844K Missense 31/53 - 2
X-107863512-A-G c.2533A>G p.K845E Missense 31/53 - 1
X-107863513-A-C c.2534A>C p.K845T Missense 31/53 - 2
X-107863516-G-A c.2537G>A p.G846E Missense 31/53 - 3
X-107863518-G-A c.2539G>A p.D847N Missense 31/53 - 7
X-107863520-T-C c.2541T>C p.D847= Synonymous 31/53 - 1
X-107863524-G-A c.2545G>A p.G849R Missense 31/53 - 1
X-107863525-G-A c.2546G>A p.G849E Missense 31/53 - 3
X-107863527-C-T c.2548C>T p.P850S Missense 31/53 - 1
X-107863528-C-T c.2549C>T p.P850L Missense 31/53 - 1
X-107863519-ATCCAGGACCTCCTGGACTTGATGT-A c.2550_2573del p.L853_G860del InFrameDeletion 31/53 - 1
X-107863531-C-G c.2552C>G p.P851R Missense 31/53 - 1
X-107863531-C-T c.2552C>T p.P851L Missense 31/53 - 1
X-107863533-G-A c.2554G>A p.G852R Missense 31/53 - 3
X-107863533-G-C c.2554G>C p.G852R Missense 31/53 - 1
X-107863534-G-A c.2555G>A p.G852E Missense 31/53 - 5
X-107863534-G-T c.2555G>T p.G852V Missense 31/53 - 1
X-107863536-C-T c.2557C>T p.L853F Missense 31/53 - 1
X-107863537-T-A c.2558T>A p.L853H Missense 31/53 - 1
X-107863539-G-A c.2560G>A p.D854N Missense 31/53 - 1
X-107863540-A-G c.2561A>G p.D854G Missense 31/53 - 1
X-107863542-G-T c.2563G>T p.V855F Missense 31/53 - 1
X-107863551-C-A c.2572C>A p.P858T Missense 31/53 - 1
X-107863552-C-A c.2573C>A p.P858H Missense 31/53 - 1
X-107863552-C-G c.2573C>G p.P858R Missense 31/53 - 2
X-107863555-C-A c.2576C>A p.P859Q Missense 31/53 - 1
X-107863557-G-A c.2578G>A p.G860S Missense 31/53 - 1
X-107863557-G-C c.2578G>C p.G860R Missense 31/53 - 2
X-107863558-G-A c.2579G>A p.G860D Missense 31/53 - 2
X-107863562-A-G c.2583A>G p.E861= Synonymous 31/53 - 3
X-107863563-AGA-TGT c.2584_2586delinsTGT p.R862C Missense 31/53 - 1
X-107863566-AGGCAGTCCAGGGATCCCCGG-A c.2587_2606del p.G863Sfs*28 Frameshift 31/53 - 1
X-107863566-G-A c.2587G>A p.G863S Missense 31/53 - 2
X-107863567-G-A c.2588G>A p.G863D Missense 31/53 - 1
X-107863568-GCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTC-G c.2592_2650del p.S864Rfs*14 InFrameDeletion 31/53 - 1
X-107863568-GC-G c.2589del p.S864Vfs*11 Frameshift 31/53 - 1
X-107863569-A-C c.2590A>C p.S864R Missense 31/53 - 1
X-107863569-CAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA-C c.2590_2625del p.S864_G875del InFrameDeletion 31/53 - 1
X-107863572-C-G c.2593C>G p.P865A Missense 31/53 - 1
X-107863572-C-T c.2593C>T p.P865S Missense 31/53 - 1
X-107863571-TCCAGGGATCCCCGGAGCA-T c.2595_2612del p.I867_G872del InFrameDeletion 31/53 - 1
X-107863575-G-A c.2596G>A p.G866R Missense 31/53 - 1
X-107863575-G-T c.2596G>T p.G866W Missense 31/53 - 1
X-107863576-G-A c.2597G>A p.G866E Missense 31/53 - 9
X-107863576-G-T c.2597G>T p.G866V Missense 31/53 - 5
X-107863577-G-A c.2598G>A p.G866= Synonymous 31/53 - 1
X-107863577-G-C c.2598G>C p.G866= Synonymous 31/53 - 1
X-107863577-G-T c.2598G>T p.G866= Synonymous 31/53 - 1
X-107863578-A-AT c.2600dup p.G869Rfs*29 Frameshift 31/53 - 1
X-107863579-T-C c.2600T>C p.I867T Missense 31/53 - 2
X-107863580-C-A c.2601C>A p.I867= Synonymous 31/53 - 2
X-107863580-C-T c.2601C>T p.I867= Synonymous 31/53 - 6
X-107863583-C-A c.2604C>A p.P868= Synonymous 31/53 - 1
X-107863583-C-G c.2604C>G p.P868= Synonymous 31/53 - 1
X-107863583-C-T c.2604C>T p.P868= Synonymous 31/53 - 1
X-107863584-G-A c.2605G>A p.G869R Missense 31/53 - 19
X-107863584-G-C c.2605G>C p.G869R Missense 31/53 - 11
X-107863585-G-A c.2606G>A p.G869E Missense 31/53 - 2
X-107863585-G-T c.2606G>T p.G869V Missense 31/53 - 3
X-107863590-C-A c.2611C>A p.P871T Missense 31/53 - 1
X-107863593-G-C c.2614G>C p.G872R Missense 31/53 - 3
X-107863593-G-T c.2614G>T p.G872C Missense 31/53 - 2
X-107863594-G-C c.2615G>C p.G872A Missense 31/53 - 2
X-107863595-T-A c.2616T>A p.G872= Synonymous 31/53 - 1
X-107863595-T-C c.2616T>C p.G872= Synonymous 31/53 - 1
X-107863595-T-G c.2616T>G p.G872= Synonymous 31/53 - 1
X-107863596-C-T c.2617C>T p.P873S Missense 31/53 - 6
X-107863599-A-G c.2620A>G p.I874V Missense 31/53 - 2
X-107863602-G-C c.2623G>C p.G875R Missense 31/53 - 2
X-107863603-G-A c.2624G>A p.G875E Missense 31/53 - 3
X-107863603-G-T c.2624G>T p.G875V Missense 31/53 - 1
X-107863604-GA-G c.2625del p.P876Lfs*25 Frameshift 31/53 - 2
X-107863609-C-T c.2630C>T p.P877L Missense 31/53 - 4
X-107863611-G-A c.2632G>A p.G878R Missense 31/53 - 3
X-107863611-G-C c.2632G>C p.G878R Missense 31/53 - 1
X-107863611-G-T c.2632G>T p.G878* Nonsense 31/53 - 1
X-107863612-G-A c.2633G>A p.G878E Missense 31/53 - 4
X-107863612-G-T c.2633G>T p.G878V Missense 31/53 - 2
X-107863615-C-A c.2636C>A p.S879* Nonsense 31/53 - 1
X-107863620-G-A c.2641G>A p.G881R Missense 31/53 - 4
X-107863620-G-C c.2641G>C p.G881R Missense 31/53 - 1
X-107863620-GGG-AGC c.2641_2643delinsAGC p.G881S Missense 31/53 - 1
X-107863621-G-T c.2642G>T p.G881V Missense 31/53 - 2
X-107863619-AG-A c.2643del p.L882Ffs*19 Frameshift 31/53 - 1
X-107863623-C-A c.2644C>A p.L882I Missense 31/53 - 1
X-107863626-C-A c.2647C>A p.P883T Missense 31/53 - 1
X-107863629-G-A c.2650G>A p.G884R Missense 31/53 - 2
X-107863629-GGA-AGC c.2650_2652delinsAGC p.G884S Missense 31/53 - 1
X-107863630-G-A c.2651G>A p.G884E Missense 31/53 - 2
X-107863636-C-G c.2657C>G p.A886G Missense 31/53 - 2
X-107863638-G-C c.2659G>C p.G887R Missense 31/53 - 3
X-107863637-AGGT-A c.2660_2662del p.G887del InFrameDeletion 31/53 - 1
X-107863639-G-T c.2660G>T p.G887V Missense 31/53 - 2
X-107863641-G-A c.2662G>A p.A888T Missense 31/53 - 2
X-107863641-G-T c.2662G>T p.A888S Missense 31/53 - 2
X-107863645-C-G c.2666C>G p.S889C Missense 31/53 - 3
X-107863647-G-A c.2668G>A p.G890R Missense 31/53 - 1
X-107863648-G-A c.2669G>A p.G890E Missense 31/53 - 5
X-107863653-C-T c.2674C>T p.P892S Missense 31/53 - 5
X-107863656-G-A c.2677G>A p.G893S Missense 31/53 - 3
X-107863656-G-C c.2677G>C p.G893R Missense 31/53 - 3
X-107863656-G-T c.2677G>T p.G893C Missense 31/53 - 1
X-107863658-T-C c.2677+2T>C - IntronicSNV - 31/52 1
X-107865033-G-C c.2678G>C p.G893A Missense 32/53 - 1
X-107865033-G-T c.2678G>T p.G893V Missense 32/53 - 3
X-107865034-T-C c.2679T>C p.G893= Synonymous 32/53 - 1
X-107865035-A-G c.2680A>G p.T894A Missense 32/53 - 2
X-107865036-C-T c.2681C>T p.T894I Missense 32/53 - 2
X-107865039-A-G c.2684A>G p.K895R Missense 32/53 - 1
X-107865041-G-A c.2686G>A p.G896S Missense 32/53 - 2
X-107865041-G-T c.2686G>T p.G896C Missense 32/53 - 2
X-107865040-AG-A c.2687del p.G896Vfs*5 Frameshift 32/53 - 1
X-107865042-G-A c.2687G>A p.G896D Missense 32/53 - 1
X-107865044-GA-G c.2692del p.M898Wfs*3 Frameshift 32/53 - 3
X-107865047-A-G c.2692A>G p.M898V Missense 32/53 - 4
X-107865050-G-A c.2695G>A p.G899S Missense 32/53 - 2
X-107865050-G-C c.2695G>C p.G899R Missense 32/53 - 2
X-107865048-TGGGTATGATG-T c.2696_2705del p.G899Dfs*94 Frameshift 32/53 - 1
X-107865051-G-A c.2696G>A p.G899D Missense 32/53 - 2
X-107865051-G-C c.2696G>C p.G899A Missense 32/53 - 1
X-107865051-G-T c.2696G>T p.G899V Missense 32/53 - 2
X-107865055-G-A c.2700G>A p.M900I Missense 32/53 - 4
X-107865056-A-G c.2701A>G p.M901V Missense 32/53 - 1
X-107865060-G-A c.2705G>A p.G902E Missense 32/53 - 3
X-107865060-G-T c.2705G>T p.G902V Missense 32/53 - 3
X-107865061-A-AC c.2708dup p.P904Sfs*19 Frameshift 32/53 - 1
X-107865064-T-C c.2709T>C p.P903= Synonymous 32/53 - 1
X-107865065-C-T c.2710C>T p.P904S Missense 32/53 - 5
X-107865068-G-A c.2713G>A p.G905S Missense 32/53 - 1
X-107865069-G-A c.2714G>A p.G905D Missense 32/53 - 4
X-107865071-C-A c.2716C>A p.P906T Missense 32/53 - 1
X-107865072-C-G c.2717C>G p.P906R Missense 32/53 - 2
X-107865074-C-T c.2719C>T p.P907S Missense 32/53 - 3
X-107865075-C-A c.2720C>A p.P907Q Missense 32/53 - 1
X-107865075-CA-AT c.2720_2721delinsAT p.P907H Missense 32/53 - 1
X-107865075-C-T c.2720C>T p.P907L Missense 32/53 - 1
X-107865077-G-A c.2722G>A p.G908R Missense 32/53 - 5
X-107865077-G-C c.2722G>C p.G908R Missense 32/53 - 1
X-107865078-G-A c.2723G>A p.G908E Missense 32/53 - 6
X-107865085-G-T c.2730G>T p.L910F Missense 32/53 - 1
X-107865086-G-A c.2731G>A p.G911R Missense 32/53 - 7
X-107865086-GG-AA c.2731_2732delinsAA p.G911K Missense 32/53 - 1
X-107865086-G-T c.2731G>T p.G911* Nonsense 32/53 - 1
X-107865087-G-A c.2732G>A p.G911E Missense 32/53 - 8
X-107865092-C-T c.2737C>T p.P913S Missense 32/53 - 4
X-107865093-C-G c.2738C>G p.P913R Missense 32/53 - 1
X-107865093-C-T c.2738C>T p.P913L Missense 32/53 - 3
X-107865095-G-T c.2740G>T p.G914C Missense 32/53 - 1
X-107865096-G-A c.2741G>A p.G914D Missense 32/53 - 6
X-107865098-AG-CT c.2743_2744inv p.R915L Missense 32/53 - 1
X-107865098-A-T c.2743A>T p.R915W Missense 32/53 - 1
X-107865101-A-G c.2746A>G p.S916G Missense 32/53 - 4
X-107865102-G-A c.2747G>A p.S916N Missense 32/53 - 2
X-107865104-G-A c.2749G>A p.G917S Missense 32/53 - 1
X-107865104-G-T c.2749G>T p.G917C Missense 32/53 - 1
X-107865105-G-A c.2750G>A p.G917D Missense 32/53 - 1
X-107865107-G-A c.2752G>A p.V918I Missense 32/53 - 4
X-107865116-C-A c.2761C>A p.L921I Missense 32/53 - 1
X-107865116-C-G c.2761C>G p.L921V Missense 32/53 - 2
X-107865119-A-G c.2764A>G p.K922E Missense 32/53 - 2
X-107865120-A-T c.2765A>T p.K922I Missense 32/53 - 4
X-107865118-TA-T c.2766del p.G923Vfs*73 Frameshift 32/53 - 1
X-107865122-G-C c.2767G>C p.G923R Missense 32/53 - 4
X-107865124-GT-G c.2767+2del - IntronicDeletion - 32/52 1
X-107865125-A-G c.2767+3A>G - IntronicSNV - 32/52 1
X-107865126-A-C c.2767+4A>C - IntronicSNV - 32/52 1
X-107865126-A-G c.2767+4A>G - IntronicSNV - 32/52 1
X-107865161-G-A c.2767+39G>A - IntronicSNV - 32/52 1
X-107865895-A-G c.2768-11A>G - IntronicSNV - 32/52 9
X-107865906-GT-AG c.2768_2769delinsAG p.G923E Missense 33/53 - 1
X-107865911-G-A c.2773G>A p.D925N Missense 33/53 - 3
X-107865914-G-A c.2776G>A p.G926S Missense 33/53 - 1
X-107865913-TG-T c.2777del p.G926Afs*70 Frameshift 33/53 - 1
X-107865915-G-T c.2777G>T p.G926V Missense 33/53 - 2
X-107865920-C-T c.2782C>T p.Q928* Nonsense 33/53 - 3
X-107865924-GT-AG c.2786_2787delinsAG p.G929E Missense 33/53 - 2
X-107865926-C-T c.2788C>T p.Q930* Nonsense 33/53 - 2
X-107865931-A-C c.2793A>C p.P931= Synonymous 33/53 - 1
X-107865931-A-G c.2793A>G p.P931= Synonymous 33/53 - 1
X-107865931-A-T c.2793A>T p.P931= Synonymous 33/53 - 1
X-107865934-A-G c.2796A>G p.G932= Synonymous 33/53 - 1
X-107865935-C-T c.2797C>T p.L933F Missense 33/53 - 4
X-107865938-C-G c.2800C>G p.P934A Missense 33/53 - 1
X-107865938-C-T c.2800C>T p.P934S Missense 33/53 - 6
X-107865939-C-T c.2801C>T p.P934L Missense 33/53 - 1
X-107865939-C-CT c.2802dup p.G935Wfs*8 Frameshift 33/53 - 1
X-107865942-G-A c.2804G>A p.G935D Missense 33/53 - 4
X-107865942-G-T c.2804G>T p.G935V Missense 33/53 - 2
X-107865950-G-C c.2812G>C p.G938R Missense 33/53 - 1
X-107865950-G-T c.2812G>T p.G938* Nonsense 33/53 - 1
X-107865951-G-A c.2813G>A p.G938E Missense 33/53 - 3
X-107865953-G-T c.2815G>T p.E939* Nonsense 33/53 - 1
X-107865957-A-C c.2819A>C p.K940T Missense 33/53 - 1
X-107865958-A-T c.2820A>T p.K940N Missense 33/53 - 1
X-107865959-G-C c.2821G>C p.G941R Missense 33/53 - 3
X-107865959-G-T c.2821G>T p.G941C Missense 33/53 - 6
X-107865960-G-A c.2822G>A p.G941D Missense 33/53 - 4
X-107865959-GGTA-G c.2825_2827del p.S942del InFrameDeletion 33/53 - 1
X-107865965-A-T c.2827A>T p.K943* Nonsense 33/53 - 1
X-107865968-G-A c.2830G>A p.G944R Missense 33/53 - 5
X-107865968-G-C c.2830G>C p.G944R Missense 33/53 - 3
X-107865968-GG-AA c.2830_2831delinsAA p.G944K Missense 33/53 - 3
X-107865967-AG-A c.2831del p.G944Efs*52 Frameshift 33/53 - 1
X-107865969-G-A c.2831G>A p.G944E Missense 33/53 - 5
X-107865971-G-A c.2833G>A p.E945K Missense 33/53 - 1
X-107865973-G-C c.2835G>C p.E945D Missense 33/53 - 1
X-107865973-G-T c.2835G>T p.E945D Missense 33/53 - 1
X-107865974-C-G c.2836C>G p.P946A Missense 33/53 - 1
X-107865974-C-T c.2836C>T p.P946S Missense 33/53 - 1
X-107865978-G-A c.2840G>A p.G947D Missense 33/53 - 4
X-107865980-C-A c.2842C>A p.L948I Missense 33/53 - 1
X-107865980-C-T c.2842C>T p.L948F Missense 33/53 - 6
X-107865982-TC-T c.2846del p.P949Qfs*47 Frameshift 33/53 - 1
X-107865989-C-T c.2851C>T p.P951S Missense 33/53 - 1
X-107865992-C-T c.2854C>T p.P952S Missense 33/53 - 1
X-107865993-C-T c.2855C>T p.P952L Missense 33/53 - 5
X-107865996-G-T c.2858G>T p.G953V Missense 33/53 - 29
X-107865998-C-A c.2860C>A p.P954T Missense 33/53 - 2
X-107865999-C-A c.2861C>A p.P954Q Missense 33/53 - 1
X-107866002-T-C c.2864T>C p.M955T Missense 33/53 - 1
X-107866003-G-A c.2865G>A p.M955I Missense 33/53 - 7
X-107866003-G-C c.2865G>C p.M955I Missense 33/53 - 2
X-107866003-G-T c.2865G>T p.M955I Missense 33/53 - 2
X-107866004-G-A c.2866G>A p.D956N Missense 33/53 - 2
X-107866004-G-T c.2866G>T p.D956Y Missense 33/53 - 1
X-107866013-C-G c.2875C>G p.L959V Missense 33/53 - 2
X-107866013-C-T c.2875C>T p.L959F Missense 33/53 - 1
X-107866014-T-C c.2876T>C p.L959P Missense 33/53 - 1
X-107866019-G-T c.2881G>T p.G961C Missense 33/53 - 1
X-107866020-G-T c.2882G>T p.G961V Missense 33/53 - 2
X-107866021-C-A c.2883C>A p.G961= Synonymous 33/53 - 1
X-107866026-A-C c.2888A>C p.K963T Missense 33/53 - 1
X-107866028-G-A c.2890G>A p.G964R Missense 33/53 - 1
X-107866028-G-C c.2890G>C p.G964R Missense 33/53 - 1
X-107866028-G-T c.2890G>T p.G964* Nonsense 33/53 - 1
X-107866029-G-A c.2891G>A p.G964E Missense 33/53 - 7
X-107866033-G-A c.2895G>A p.E965= Synonymous 33/53 - 3
X-107866036-G-C c.2898G>C p.K966N Missense 33/53 - 1
X-107866036-G-T c.2898G>T p.K966N Missense 33/53 - 1
X-107866037-G-A c.2899G>A p.G967R Missense 33/53 - 2
X-107866038-G-A c.2900G>A p.G967E Missense 33/53 - 1
X-107866040-G-A c.2902G>A p.E968K Missense 33/53 - 6
X-107866041-A-AG c.2903_2904insG p.P969Tfs*42 Frameshift 33/53 - 1
X-107866040-GA-G c.2904del p.E968Dfs*28 Frameshift 33/53 - 1
X-107866043-C-G c.2905C>G p.P969A Missense 33/53 - 1
X-107866044-C-A c.2906C>A p.P969H Missense 33/53 - 2
X-107866048-C-A c.2910C>A p.G970= Synonymous 33/53 - 1
X-107866048-C-G c.2910C>G p.G970= Synonymous 33/53 - 1
X-107866048-C-T c.2910C>T p.G970= Synonymous 33/53 - 1
X-107866049-T-C c.2911T>C p.L971= Synonymous 33/53 - 2
X-107866052-C-G c.2914C>G p.P972A Missense 33/53 - 1
X-107866056-G-C c.2917+1G>C - IntronicSNV - 33/52 1
X-107866056-G-T c.2917+1G>T - IntronicSNV - 33/52 1
X-107867298-G-A c.2918-168G>A - IntronicSNV - 33/52 2
X-107867466-G-A c.2918G>A p.G973D Missense 34/53 - 5
X-107867466-G-C c.2918G>C p.G973A Missense 34/53 - 1
X-107867474-G-A c.2926G>A p.G976R Missense 34/53 - 1
X-107867475-G-A c.2927G>A p.G976E Missense 34/53 - 1
X-107867474-GGA-G c.2928_2929del p.V977Ffs*33 Frameshift 34/53 - 1
X-107867476-A-G c.2928A>G p.G976= Synonymous 34/53 - 1
X-107867477-G-A c.2929G>A p.V977I Missense 34/53 - 1
X-107867477-GT-G c.2932del p.S978Qfs*18 Frameshift 34/53 - 1
X-107867487-CA-C c.2943del p.G982Vfs*14 Frameshift 34/53 - 1
X-107867492-G-T c.2944G>T p.G982C Missense 34/53 - 1
X-107867493-G-A c.2945G>A p.G982D Missense 34/53 - 1
X-107867493-GT-G c.2947del p.Y983Ifs*13 Frameshift 34/53 - 1
X-107867495-T-A c.2947T>A p.Y983N Missense 34/53 - 1
X-107867496-A-G c.2948A>G p.Y983C Missense 34/53 - 1
X-107867499-A-T c.2951A>T p.Q984L Missense 34/53 - 1
X-107867502-G-T c.2954G>T p.G985V Missense 34/53 - 1
X-107867506-G-T c.2958G>T p.L986F Missense 34/53 - 1
X-107867506-TGCCTGGAGACCCAGGGCA-T c.2958_2975del p.D989_G994del InFrameDeletion 34/53 - 1
X-107867511-G-A c.2963G>A p.G988E Missense 34/53 - 3
X-107867511-G-C c.2963G>C p.G988A Missense 34/53 - 1
X-107867506-GCCTGGAGACCCAGGGCAA-G c.2965_2982del p.D989_G994del InFrameDeletion 34/53 - 3
X-107867513-AG-A c.2965del p.D989Tfs*7 Frameshift 34/53 - 1
X-107867516-C-T c.2968C>T p.P990S Missense 34/53 - 1
X-107867517-C-G c.2969C>G p.P990R Missense 34/53 - 1
X-107867521-G-A c.2973G>A p.G991= Synonymous 34/53 - 1
X-107867522-CAACCTGG-C c.2976_2982del p.Q992Hfs*2 Frameshift 34/53 - 1
X-107867528-G-A c.2980G>A p.G994R Missense 34/53 - 1
X-107867527-TG-T c.2981del p.G994Dfs*2 Frameshift 34/53 - 1
X-107867531-C-A c.2983C>A p.L995M Missense 34/53 - 2
X-107867535-G-A c.2987G>A p.S996N Missense 34/53 - 2
X-107867538-G-A c.2990G>A p.G997E Missense 34/53 - 1
X-107867538-G-GGCAACC c.2990_2991insGCAACC p.Q998_P999dup InFrameInsertion 34/53 - 1
X-107867538-G-GGCAACCTGGACTGAGTGT c.2990_2991insGCAACCTGGACTGAGTGT p.L1001_P1002insSVQPGL InFrameInsertion 34/53 - 1
X-107867540-C-A c.2992C>A p.Q998K Missense 34/53 - 1
X-107867540-C-T c.2992C>T p.Q998* Nonsense 34/53 - 1
X-107867544-C-A c.2996C>A p.P999H Missense 34/53 - 2
X-107867547-G-A c.2999G>A p.G1000E Missense 34/53 - 1
X-107867547-G-C c.2999G>C p.G1000A Missense 34/53 - 1
X-107867547-G-T c.2999G>T p.G1000V Missense 34/53 - 9
X-107867548-AT-A c.3002del p.L1001Yfs*20 Frameshift 34/53 - 1
X-107867552-C-T c.3004C>T p.P1002S Missense 34/53 - 1
X-107867553-C-G c.3005C>G p.P1002R Missense 34/53 - 2
X-107867565-G-T c.3016+1G>T - IntronicSNV - 34/52 1
X-107867740-T-C c.3016+176T>C - IntronicSNV - 34/52 2
X-107867759-G-A c.3016+195G>A - IntronicSNV - 34/52 1
X-107868935-G-A c.3017G>A p.G1006D Missense 35/53 - 3
X-107868935-G-C c.3017G>C p.G1006A Missense 35/53 - 1
X-107868935-G-T c.3017G>T p.G1006V Missense 35/53 - 5
X-107868937-C-A c.3019C>A p.P1007T Missense 35/53 - 1
X-107868937-C-T c.3019C>T p.P1007S Missense 35/53 - 5
X-107868938-C-T c.3020C>T p.P1007L Missense 35/53 - 1
X-107868940-A-G c.3022A>G p.K1008E Missense 35/53 - 1
X-107868941-A-G c.3023A>G p.K1008R Missense 35/53 - 1
X-107868944-G-T c.3026G>T p.G1009V Missense 35/53 - 1
X-107868946-A-T c.3028A>T p.N1010Y Missense 35/53 - 1
X-107868947-A-G c.3029A>G p.N1010S Missense 35/53 - 4
X-107868948-C-T c.3030C>T p.N1010= Synonymous 35/53 - 3
X-107868952-G-T c.3034G>T p.G1012C Missense 35/53 - 2
X-107868951-TG-T c.3035del p.G1012Vfs*9 Frameshift 35/53 - 1
X-107868953-G-A c.3035G>A p.G1012D Missense 35/53 - 1
X-107868955-C-T c.3037C>T p.L1013F Missense 35/53 - 3
X-107868957-C-T c.3039C>T p.L1013= Synonymous 35/53 - 1
X-107868958-C-T c.3040C>T p.P1014S Missense 35/53 - 1
X-107868959-C-A c.3041C>A p.P1014H Missense 35/53 - 1
X-107868959-C-T c.3041C>T p.P1014L Missense 35/53 - 1
X-107868962-G-A c.3044G>A p.G1015E Missense 35/53 - 5
X-107868962-G-T c.3044G>T p.G1015V Missense 35/53 - 3
X-107868964-AC-A c.3046del p.Q1016Sfs*5 Frameshift 35/53 - 1
X-107868964-C-T c.3046C>T p.Q1016* Nonsense 35/53 - 2
X-107868970-G-T c.3052G>T p.G1018C Missense 35/53 - 1
X-107868971-G-A c.3053G>A p.G1018D Missense 35/53 - 2
X-107868973-C-G c.3055C>G p.L1019V Missense 35/53 - 2
X-107868973-C-T c.3055C>T p.L1019F Missense 35/53 - 1
X-107868974-T-C c.3056T>C p.L1019P Missense 35/53 - 5
X-107868973-CT-C c.3057del p.I1020* Frameshift 35/53 - 1
X-107868975-T-C c.3057T>C p.L1019= Synonymous 35/53 - 1
X-107868975-T-TTAA c.3057_3058insTAA p.L1019_I1020ins* InFrameInsertion 35/53 - 1
X-107868976-A-G c.3058A>G p.I1020V Missense 35/53 - 2
X-107868980-G-A c.3062G>A p.G1021E Missense 35/53 - 3
X-107868981-A-C c.3063A>C p.G1021= Synonymous 35/53 - 1
X-107868981-A-G c.3063A>G p.G1021= Synonymous 35/53 - 1
X-107868981-A-T c.3063A>T p.G1021= Synonymous 35/53 - 1
X-107868983-C-A c.3065C>A p.P1022H Missense 35/53 - 1
X-107868985-C-A c.3067C>A p.P1023T Missense 35/53 - 2
X-107868985-C-T c.3067C>T p.P1023S Missense 35/53 - 2
X-107868987-T-A c.3069T>A p.P1023= Synonymous 35/53 - 1
X-107868987-T-C c.3069T>C p.P1023= Synonymous 35/53 - 2
X-107868987-T-G c.3069T>G p.P1023= Synonymous 35/53 - 2
X-107868988-G-A c.3070G>A p.G1024R Missense 35/53 - 1
X-107868989-G-A c.3071G>A p.G1024E Missense 35/53 - 5
X-107868992-T-G c.3074T>G p.L1025R Missense 35/53 - 2
X-107868995-A-C c.3077A>C p.K1026T Missense 35/53 - 1
X-107868997-G-A c.3079G>A p.G1027R Missense 35/53 - 1
X-107868998-G-A c.3080G>A p.G1027E Missense 35/53 - 3
X-107868998-G-T c.3080G>T p.G1027V Missense 35/53 - 5
X-107869000-A-G c.3082A>G p.T1028A Missense 35/53 - 1
X-107869001-C-A c.3083C>A p.T1028N Missense 35/53 - 1
X-107869001-C-T c.3083C>T p.T1028I Missense 35/53 - 1
X-107869005-C-T c.3087C>T p.I1029= Synonymous 35/53 - 3
X-107869006-G-A c.3088G>A p.G1030S Missense 35/53 - 10
X-107869007-G-T c.3089G>T p.G1030V Missense 35/53 - 1
X-107869008-T-A c.3090T>A p.G1030= Synonymous 35/53 - 1
X-107869008-T-C c.3090T>C p.G1030= Synonymous 35/53 - 1
X-107869008-T-G c.3090T>G p.G1030= Synonymous 35/53 - 1
X-107869009-G-A c.3091G>A p.D1031N Missense 35/53 - 4
X-107869010-A-G c.3092A>G p.D1031G Missense 35/53 - 2
X-107869009-GAT-G c.3094_3095del p.M1032Gfs*35 Frameshift 35/53 - 1
X-107869012-A-G c.3094A>G p.M1032V Missense 35/53 - 2
X-107869013-T-C c.3095T>C p.M1032T Missense 35/53 - 2
X-107869014-G-A c.3096G>A p.M1032I Missense 35/53 - 1
X-107869015-G-A c.3097G>A p.G1033S Missense 35/53 - 2
X-107869015-G-C c.3097G>C p.G1033R Missense 35/53 - 3
X-107869016-G-T c.3098G>T p.G1033V Missense 35/53 - 1
X-107869018-T-G c.3100T>G p.F1034V Missense 35/53 - 1
X-107869021-C-A c.3103C>A p.P1035T Missense 35/53 - 1
X-107869022-C-G c.3104C>G p.P1035R Missense 35/53 - 1
X-107869024-G-A c.3106G>A p.G1036R Missense 35/53 - 2
X-107869025-G-A c.3106+1G>A - IntronicSNV - 35/52 1
X-107869025-G-T c.3106+1G>T - IntronicSNV - 35/52 1
X-107869340-G-A c.3107-100G>A - IntronicSNV - 35/52 1
X-107869343-G-C c.3107-97G>C - IntronicSNV - 35/52 2
X-107869429-A-T c.3107-11A>T - IntronicSNV - 35/52 1
X-107869440-G-T c.3107G>T p.G1036V Missense 36/53 - 3
X-107869441-G-A c.3108G>A p.G1036= Synonymous 36/53 - 2
X-107869442-C-T c.3109C>T p.P1037S Missense 36/53 - 1
X-107869445-C-A c.3112C>A p.Q1038K Missense 36/53 - 1
X-107869446-A-G c.3113A>G p.Q1038R Missense 36/53 - 1
X-107869448-G-A c.3115G>A p.G1039S Missense 36/53 - 4
X-107869449-G-A c.3116G>A p.G1039D Missense 36/53 - 1
X-107869450-T-A c.3117T>A p.G1039= Synonymous 36/53 - 1
X-107869450-T-C c.3117T>C p.G1039= Synonymous 36/53 - 1
X-107869450-T-G c.3117T>G p.G1039= Synonymous 36/53 - 1
X-107869451-G-A c.3118G>A p.V1040M Missense 36/53 - 1
X-107869454-G-A c.3121G>A p.E1041K Missense 36/53 - 4
X-107869457-G-GC c.3124_3125insC p.G1042Afs*26 Frameshift 36/53 - 1
X-107869458-G-T c.3125G>T p.G1042V Missense 36/53 - 1
X-107869459-G-A c.3126G>A p.G1042= Synonymous 36/53 - 1
X-107869467-G-A c.3134G>A p.G1045E Missense 36/53 - 5
X-107869469-C-T c.3136C>T p.P1046S Missense 36/53 - 1
X-107869473-C-T c.3140C>T p.S1047F Missense 36/53 - 1
X-107869476-G-A c.3143G>A p.G1048E Missense 36/53 - 2
X-107869481-C-G c.3148C>G p.P1050A Missense 36/53 - 1
X-107869481-C-T c.3148C>T p.P1050S Missense 36/53 - 2
X-107869485-G-A c.3152G>A p.G1051E Missense 36/53 - 1
X-107869485-G-C c.3152G>C p.G1051A Missense 36/53 - 1
X-107869487-C-T c.3154C>T p.Q1052* Nonsense 36/53 - 3
X-107869488-A-C c.3155A>C p.Q1052P Missense 36/53 - 1
X-107869489-A-C c.3156A>C p.Q1052H Missense 36/53 - 5
X-107869489-A-T c.3156A>T p.Q1052H Missense 36/53 - 1
X-107869490-C-T c.3157C>T p.P1053S Missense 36/53 - 1
X-107869493-G-A c.3160G>A p.G1054S Missense 36/53 - 1
X-107869494-G-A c.3161G>A p.G1054D Missense 36/53 - 1
X-107869497-C-T c.3164C>T p.S1055F Missense 36/53 - 2
X-107869498-C-G c.3165C>G p.S1055= Synonymous 36/53 - 1
X-107869498-C-T c.3165C>T p.S1055= Synonymous 36/53 - 1
X-107869499-C-G c.3166C>G p.P1056A Missense 36/53 - 1
X-107869499-C-T c.3166C>T p.P1056S Missense 36/53 - 1
X-107869496-TC-T c.3167del p.P1056Qfs*96 Frameshift 36/53 - 1
X-107869502-G-A c.3169G>A p.G1057R Missense 36/53 - 4
X-107869502-G-C c.3169G>C p.G1057R Missense 36/53 - 2
X-107869502-G-T c.3169G>T p.G1057* Nonsense 36/53 - 2
X-107869503-G-A c.3170G>A p.G1057E Missense 36/53 - 2
X-107869503-G-T c.3170G>T p.G1057V Missense 36/53 - 1
X-107869505-T-A c.3172T>A p.L1058I Missense 36/53 - 1
X-107869505-T-G c.3172T>G p.L1058V Missense 36/53 - 1
X-107869507-A-G c.3174A>G p.L1058= Synonymous 36/53 - 1
X-107869509-C-T c.3176C>T p.P1059L Missense 36/53 - 1
X-107869510-CT-C c.3177del p.G1060Dfs*92 Frameshift 36/53 - 1
X-107869511-G-T c.3178G>T p.G1060* Nonsense 36/53 - 3
X-107869512-G-A c.3179G>A p.G1060E Missense 36/53 - 2
X-107869514-C-T c.3181C>T p.Q1061* Nonsense 36/53 - 2
X-107869518-A-C c.3185A>C p.K1062T Missense 36/53 - 1
X-107869518-A-T c.3185A>T p.K1062I Missense 36/53 - 3
X-107869521-G-A c.3188G>A p.G1063D Missense 36/53 - 2
X-107869521-G-T c.3188G>T p.G1063V Missense 36/53 - 3
X-107869522-C-G c.3189C>G p.G1063= Synonymous 36/53 - 1
X-107869522-C-T c.3189C>T p.G1063= Synonymous 36/53 - 1
X-107869523-G-A c.3190G>A p.D1064N Missense 36/53 - 4
X-107869529-G-A c.3196G>A p.G1066S Missense 36/53 - 6
X-107869529-G-C c.3196G>C p.G1066R Missense 36/53 - 4
X-107869529-G-T c.3196G>T p.G1066C Missense 36/53 - 1
X-107869530-G-A c.3197G>A p.G1066D Missense 36/53 - 4
X-107869530-G-C c.3197G>C p.G1066A Missense 36/53 - 4
X-107869530-G-T c.3197G>T p.G1066V Missense 36/53 - 2
X-107869535-C-A c.3202C>A p.P1068T Missense 36/53 - 1
X-107869534-TC-T c.3203del p.P1068Lfs*84 Frameshift 36/53 - 1
X-107869536-C-G c.3203C>G p.P1068R Missense 36/53 - 1
X-107869538-G-A c.3205G>A p.G1069S Missense 36/53 - 1
X-107869538-G-T c.3205G>T p.G1069C Missense 36/53 - 1
X-107869539-G-A c.3206G>A p.G1069D Missense 36/53 - 2
X-107869539-G-T c.3206G>T p.G1069V Missense 36/53 - 4
X-107869541-A-G c.3208A>G p.I1070V Missense 36/53 - 1
X-107869542-T-G c.3209T>G p.I1070S Missense 36/53 - 3
X-107869545-C-A c.3212C>A p.S1071* Nonsense 36/53 - 2
X-107869545-C-G c.3212C>G p.S1071* Nonsense 36/53 - 3
X-107869546-A-G c.3213A>G p.S1071= Synonymous 36/53 - 1
X-107869547-A-G c.3214A>G p.S1072G Missense 36/53 - 2
X-107869550-A-G c.3217A>G p.I1073V Missense 36/53 - 1
X-107869551-T-C c.3218T>C p.I1073T Missense 36/53 - 3
X-107869553-G-A c.3220G>A p.G1074S Missense 36/53 - 2
X-107869553-G-C c.3220G>C p.G1074R Missense 36/53 - 2
X-107869554-G-C c.3221G>C p.G1074A Missense 36/53 - 1
X-107869556-C-T c.3223C>T p.L1075F Missense 36/53 - 3
X-107869557-T-G c.3224T>G p.L1075R Missense 36/53 - 1
X-107869559-C-T c.3226C>T p.P1076S Missense 36/53 - 1
X-107869558-TC-T c.3227del p.P1076Qfs*76 Frameshift 36/53 - 1
X-107869560-C-T c.3227C>T p.P1076L Missense 36/53 - 1
X-107869561-A-C c.3228A>C p.P1076= Synonymous 36/53 - 1
X-107869561-A-G c.3228A>G p.P1076= Synonymous 36/53 - 1
X-107869561-A-T c.3228A>T p.P1076= Synonymous 36/53 - 1
X-107869565-C-T c.3232C>T p.L1078F Missense 36/53 - 1
X-107869567-T-A c.3234T>A p.L1078= Synonymous 36/53 - 1
X-107869569-C-T c.3236C>T p.P1079L Missense 36/53 - 1
X-107869571-G-C c.3238G>C p.G1080R Missense 36/53 - 2
X-107869572-G-A c.3239G>A p.G1080D Missense 36/53 - 1
X-107869580-G-A c.3246+1G>A - IntronicSNV - 36/52 1
X-107869585-C-T c.3246+6C>T - IntronicSNV - 36/52 1
X-107869624-G-A c.3246+45G>A - IntronicSNV - 36/52 1
X-107869646-A-G c.3246+67A>G - IntronicSNV - 36/52 1
X-107869655-T-C c.3246+76T>C - IntronicSNV - 36/52 1
X-107869702-G-C c.3246+123G>C - IntronicSNV - 36/52 1
X-107870068-C-G c.3246+489C>G - IntronicSNV - 36/52 1
X-107878721-CT-C c.3246+9147del - IntronicDeletion - 36/52 1
X-107880770-A-C c.3246+11191A>C - IntronicSNV - 36/52 1
X-107889734-C-T c.3247-8827C>T - IntronicSNV - 36/52 1
X-107898561-G-A c.3247G>A p.G1083S Missense 37/53 - 2
X-107898561-G-T c.3247G>T p.G1083C Missense 37/53 - 3
X-107898562-G-A c.3248G>A p.G1083D Missense 37/53 - 1
X-107898565-A-C c.3251A>C p.E1084A Missense 37/53 - 2
X-107898565-A-T c.3251A>T p.E1084V Missense 37/53 - 1
X-107898567-C-T c.3253C>T p.P1085S Missense 37/53 - 2
X-107898570-G-C c.3256G>C p.G1086R Missense 37/53 - 3
X-107898571-G-A c.3257G>A p.G1086D Missense 37/53 - 5
X-107898571-G-T c.3257G>T p.G1086V Missense 37/53 - 2
X-107898574-T-C c.3260T>C p.L1087P Missense 37/53 - 1
X-107898580-G-A c.3266G>A p.G1089E Missense 37/53 - 2
X-107898582-T-C c.3268T>C p.Y1090H Missense 37/53 - 2
X-107898584-C-A c.3270C>A p.Y1090* Nonsense 37/53 - 1
X-107898586-C-G c.3272C>G p.P1091R Missense 37/53 - 1
X-107898589-G-A c.3275G>A p.G1092E Missense 37/53 - 1
X-107898587-AG-A c.3276del p.N1093Tfs*59 Frameshift 37/53 - 1
X-107898590-G-T c.3276G>T p.G1092= Synonymous 37/53 - 1
X-107898592-A-C c.3278A>C p.N1093T Missense 37/53 - 1
X-107898593-C-T c.3279C>T p.N1093= Synonymous 37/53 - 2
X-107898594-C-A c.3280C>A p.P1094T Missense 37/53 - 2
X-107898594-C-T c.3280C>T p.P1094S Missense 37/53 - 6
X-107898597-G-A c.3283G>A p.G1095S Missense 37/53 - 1
X-107898597-G-T c.3283G>T p.G1095C Missense 37/53 - 3
X-107898598-G-A c.3284G>A p.G1095D Missense 37/53 - 2
X-107898601-T-C c.3287T>C p.I1096T Missense 37/53 - 1
X-107898603-A-T c.3289A>T p.K1097* Nonsense 37/53 - 3
X-107898604-A-C c.3290A>C p.K1097T Missense 37/53 - 1
X-107898606-G-A c.3292G>A p.G1098S Missense 37/53 - 5
X-107898605-AG-A c.3293del p.G1098Vfs*54 Frameshift 37/53 - 1
X-107898607-G-A c.3293G>A p.G1098D Missense 37/53 - 2
X-107898608-T-C c.3294T>C p.G1098= Synonymous 37/53 - 1
X-107898607-GT-G c.3295del p.S1099Lfs*53 Frameshift 37/53 - 1
X-107898610-C-T c.3296C>T p.S1099F Missense 37/53 - 5
X-107898611-T-A c.3297T>A p.S1099= Synonymous 37/53 - 1
X-107898611-T-C c.3297T>C p.S1099= Synonymous 37/53 - 1
X-107898611-T-G c.3297T>G p.S1099= Synonymous 37/53 - 1
X-107898616-G-A c.3302G>A p.G1101E Missense 37/53 - 4
X-107898618-AG-A c.3304del p.D1102Ifs*50 Frameshift 37/53 - 1
X-107898619-ATCCTGGTT-A c.3307_3314del p.P1103Afs*31 Frameshift 37/53 - 1
X-107898621-C-T c.3307C>T p.P1103S Missense 37/53 - 6
X-107898624-G-T c.3310G>T p.G1104C Missense 37/53 - 3
X-107898625-G-T c.3311G>T p.G1104V Missense 37/53 - 3
X-107898628-T-A c.3314T>A p.L1105* Nonsense 37/53 - 1
X-107898631-C-G c.3317C>G p.P1106R Missense 37/53 - 1
X-107898633-G-A c.3319G>A p.G1107R Missense 37/53 - 12
X-107898633-G-C c.3319G>C p.G1107R Missense 37/53 - 7
X-107898633-G-T c.3319G>T p.G1107* Nonsense 37/53 - 1
X-107898634-G-A c.3320G>A p.G1107E Missense 37/53 - 1
X-107898639-C-A c.3325C>A p.P1109T Missense 37/53 - 1
X-107898640-C-CT c.3326_3327insT p.G1110Rfs*27 Frameshift 37/53 - 1
X-107898637-T-TACCAGCAA c.3328_3329insCAAACCAG p.G1110Afs*45 Frameshift 37/53 - 1
X-107898641-AG-A c.3329del p.G1110Efs*42 Frameshift 37/53 - 1
X-107898643-GA-G c.3331del p.T1111Pfs*41 Frameshift 37/53 - 1
X-107898649-C-A c.3335C>A p.P1112H Missense 37/53 - 1
X-107898654-G-A c.3340G>A p.A1114T Missense 37/53 - 1
X-107898661-G-C c.3347G>C p.G1116A Missense 37/53 - 1
X-107898661-G-T c.3347G>T p.G1116V Missense 37/53 - 3
X-107898666-C-T c.3352C>T p.P1118S Missense 37/53 - 2
X-107898669-G-A c.3355G>A p.G1119S Missense 37/53 - 1
X-107898670-G-C c.3356G>C p.G1119A Missense 37/53 - 2
X-107898672-C-A c.3358C>A p.L1120I Missense 37/53 - 1
X-107898672-C-T c.3358C>T p.L1120F Missense 37/53 - 5
X-107898675-C-T c.3361C>T p.P1121S Missense 37/53 - 2
X-107898676-C-G c.3362C>G p.P1121R Missense 37/53 - 1
X-107898678-G-A c.3364G>A p.G1122R Missense 37/53 - 1
X-107898679-G-A c.3365G>A p.G1122E Missense 37/53 - 2
X-107898683-C-T c.3369C>T p.F1123= Synonymous 37/53 - 1
X-107898684-C-T c.3370C>T p.P1124S Missense 37/53 - 1
X-107898687-G-A c.3373G>A p.G1125R Missense 37/53 - 2
X-107898688-G-A c.3373+1G>A - IntronicSNV - 37/52 1
X-107900470-AT-A c.3373+1793del - IntronicDeletion - 37/52 1
X-107906170-C-T c.3374-2567C>T - IntronicSNV - 37/52 1
X-107908737-G-A c.3374G>A p.G1125E Missense 38/53 - 1
X-107908739-A-G c.3376A>G p.T1126A Missense 38/53 - 1
X-107908740-C-T c.3377C>T p.T1126I Missense 38/53 - 1
X-107908741-CCCAGGCCCT-C c.3381_3389del p.P1130_P1132del InFrameDeletion 38/53 - 1
X-107908745-G-A c.3382G>A p.G1128S Missense 38/53 - 1
X-107908746-G-A c.3383G>A p.G1128D Missense 38/53 - 3
X-107908749-C-T c.3386C>T p.P1129L Missense 38/53 - 2
X-107908755-G-A c.3392G>A p.G1131E Missense 38/53 - 1
X-107908757-C-T c.3394C>T p.P1132S Missense 38/53 - 1
X-107908763-G-T c.3400G>T p.G1134C Missense 38/53 - 1
X-107908764-G-C c.3401G>C p.G1134A Missense 38/53 - 1
X-107908764-G-T c.3401G>T p.G1134V Missense 38/53 - 1
X-107908766-A-G c.3403A>G p.I1135V Missense 38/53 - 2
X-107908766-TATTAGTGGCCCTCCTG-T c.3403_3418del p.I1135Gfs*12 Frameshift 38/53 - 1
X-107908772-G-T c.3409G>T p.G1137C Missense 38/53 - 1
X-107908773-G-A c.3410G>A p.G1137D Missense 38/53 - 3
X-107908773-G-T c.3410G>T p.G1137V Missense 38/53 - 1
X-107908773-GC-G c.3413del p.P1138Lfs*14 Frameshift 38/53 - 1
X-107908781-G-C c.3418G>C p.G1140R Missense 38/53 - 2
X-107908781-G-T c.3418G>T p.G1140W Missense 38/53 - 1
X-107908782-G-T c.3419G>T p.G1140V Missense 38/53 - 3
X-107908783-G-A c.3420G>A p.G1140= Synonymous 38/53 - 3
X-107908785-A-C c.3422A>C p.N1141T Missense 38/53 - 2
X-107908790-G-A c.3427G>A p.G1143S Missense 38/53 - 8
X-107908790-G-T c.3427G>T p.G1143C Missense 38/53 - 2
X-107908791-G-A c.3428G>A p.G1143D Missense 38/53 - 5
X-107908791-G-T c.3428G>T p.G1143V Missense 38/53 - 1
X-107908793-C-T c.3430C>T p.L1144F Missense 38/53 - 1
X-107908796-C-T c.3433C>T p.P1145S Missense 38/53 - 1
X-107908800-G-A c.3437G>A p.G1146E Missense 38/53 - 2
X-107908809-G-T c.3446G>T p.G1149V Missense 38/53 - 3
X-107908811-C-G c.3448C>G p.P1150A Missense 38/53 - 1
X-107908813-T-TAC c.3450_3451insAC p.V1151Tfs*2 Frameshift 38/53 - 1
X-107908814-G-A c.3451G>A p.V1151I Missense 38/53 - 1
X-107908815-T-C c.3452T>C p.V1151A Missense 38/53 - 1
X-107908818-G-T c.3454+1G>T - IntronicSNV - 38/52 1
X-107909726-G-A c.3455G>A p.G1152D Missense 39/53 - 2
X-107909728-G-C c.3457G>C p.G1153R Missense 39/53 - 2
X-107909729-G-T c.3458G>T p.G1153V Missense 39/53 - 2
X-107909732-G-A c.3461G>A p.G1154E Missense 39/53 - 2
X-107909733-A-G c.3462A>G p.G1154= Synonymous 39/53 - 1
X-107909734-G-A c.3463G>A p.G1155S Missense 39/53 - 2
X-107909740-C-T c.3469C>T p.P1157S Missense 39/53 - 1
X-107909743-G-A c.3472G>A p.G1158R Missense 39/53 - 3
X-107909743-G-C c.3472G>C p.G1158R Missense 39/53 - 1
X-107909743-G-T c.3472G>T p.G1158W Missense 39/53 - 2
X-107909744-G-A c.3473G>A p.G1158E Missense 39/53 - 2
X-107909742-TG-T c.3474del p.Q1159Nfs*146 Frameshift 39/53 - 1
X-107909745-G-A c.3474G>A p.G1158= Synonymous 39/53 - 2
X-107909745-G-C c.3474G>C p.G1158= Synonymous 39/53 - 1
X-107909745-G-T c.3474G>T p.G1158= Synonymous 39/53 - 1
X-107909746-C-T c.3475C>T p.Q1159* Nonsense 39/53 - 1
X-107909750-C-G c.3479C>G p.P1160R Missense 39/53 - 1
X-107909752-G-A c.3481G>A p.G1161R Missense 39/53 - 4
X-107909752-G-C c.3481G>C p.G1161R Missense 39/53 - 4
X-107909753-G-A c.3482G>A p.G1161E Missense 39/53 - 4
X-107909753-G-T c.3482G>T p.G1161V Missense 39/53 - 1
X-107909758-C-T c.3487C>T p.P1163S Missense 39/53 - 1
X-107909759-C-G c.3488C>G p.P1163R Missense 39/53 - 1
X-107909759-C-T c.3488C>T p.P1163L Missense 39/53 - 1
X-107909761-G-T c.3490G>T p.G1164C Missense 39/53 - 3
X-107909762-G-A c.3491G>A p.G1164D Missense 39/53 - 1
X-107909762-G-C c.3491G>C p.G1164A Missense 39/53 - 1
X-107909764-G-A c.3493G>A p.E1165K Missense 39/53 - 11
X-107909767-A-G c.3496A>G p.K1166E Missense 39/53 - 1
X-107909768-A-T c.3497A>T p.K1166I Missense 39/53 - 2
X-107909770-G-A c.3499G>A p.G1167S Missense 39/53 - 5
X-107909770-G-C c.3499G>C p.G1167R Missense 39/53 - 1
X-107909774-A-T c.3503A>T p.K1168I Missense 39/53 - 1
X-107909775-A-G c.3504A>G p.K1168= Synonymous 39/53 - 2
X-107909776-C-T c.3505C>T p.P1169S Missense 39/53 - 1
X-107909777-C-A c.3506C>A p.P1169H Missense 39/53 - 1
X-107909779-G-A c.3508G>A p.G1170S Missense 39/53 - 11
X-107909779-G-C c.3508G>C p.G1170R Missense 39/53 - 1
X-107909778-CG-C c.3509del p.G1170Vfs*135 Frameshift 39/53 - 1
X-107909780-G-A c.3509G>A p.G1170D Missense 39/53 - 2
X-107909780-G-T c.3509G>T p.G1170V Missense 39/53 - 2
X-107909782-C-A c.3511C>A p.Q1171K Missense 39/53 - 1
X-107909784-A-G c.3513A>G p.Q1171= Synonymous 39/53 - 8
X-107909786-A-T c.3515A>T p.D1172V Missense 39/53 - 2
X-107909788-G-C c.3517G>C p.G1173R Missense 39/53 - 1
X-107909788-G-T c.3517G>T p.G1173C Missense 39/53 - 1
X-107909789-GT-AG c.3518_3519delinsAG p.G1173E Missense 39/53 - 1
X-107909794-C-T c.3523C>T p.P1175S Missense 39/53 - 6
X-107909795-C-G c.3524C>G p.P1175R Missense 39/53 - 1
X-107909796-T-A c.3525T>A p.P1175= Synonymous 39/53 - 1
X-107909796-T-C c.3525T>C p.P1175= Synonymous 39/53 - 1
X-107909796-T-G c.3525T>G p.P1175= Synonymous 39/53 - 1
X-107909797-G-A c.3526G>A p.G1176R Missense 39/53 - 2
X-107909796-TG-T c.3527del p.G1176Dfs*129 Frameshift 39/53 - 1
X-107909798-G-A c.3527G>A p.G1176E Missense 39/53 - 1
X-107909800-C-T c.3529C>T p.P1177S Missense 39/53 - 3
X-107909801-C-A c.3530C>A p.P1177Q Missense 39/53 - 2
X-107909806-G-A c.3535G>A p.G1179R Missense 39/53 - 4
X-107909806-G-C c.3535G>C p.G1179R Missense 39/53 - 1
X-107909806-G-T c.3535G>T p.G1179* Nonsense 39/53 - 1
X-107909809-C-T c.3538C>T p.Q1180* Nonsense 39/53 - 2
X-107909810-A-ACCGT c.3539_3540insCCGT p.Q1180Hfs*5 Frameshift 39/53 - 1
X-107909810-AGAAGGGT-A c.3543_3549del p.K1181Nfs*122 Frameshift 39/53 - 1
X-107909814-G-C c.3543G>C p.K1181N Missense 39/53 - 2
X-107909815-G-C c.3544G>C p.G1182R Missense 39/53 - 3
X-107909816-G-T c.3545G>T p.G1182V Missense 39/53 - 2
X-107909817-T-A c.3546T>A p.G1182= Synonymous 39/53 - 1
X-107909817-T-C c.3546T>C p.G1182= Synonymous 39/53 - 1
X-107909817-T-G c.3546T>G p.G1182= Synonymous 39/53 - 1
X-107909818-G-A c.3547G>A p.E1183K Missense 39/53 - 2
X-107909821-C-A c.3550C>A p.P1184T Missense 39/53 - 2
X-107909821-C-T c.3550C>T p.P1184S Missense 39/53 - 2
X-107909822-C-T c.3551C>T p.P1184L Missense 39/53 - 5
X-107909823-A-C c.3552A>C p.P1184= Synonymous 39/53 - 1
X-107909823-A-G c.3552A>G p.P1184= Synonymous 39/53 - 1
X-107909823-A-T c.3552A>T p.P1184= Synonymous 39/53 - 1
X-107909824-G-A c.3553G>A p.G1185S Missense 39/53 - 1
X-107909866-T-C c.3553+42T>C - IntronicSNV - 39/52 3
X-107910363-G-A c.3554G>A p.G1185D Missense 40/53 - 1
X-107910363-G-C c.3554G>C p.G1185A Missense 40/53 - 1
X-107910364-T-C c.3555T>C p.G1185= Synonymous 40/53 - 1
X-107910369-C-A c.3560C>A p.P1187Q Missense 40/53 - 1
X-107910371-G-C c.3562G>C p.G1188R Missense 40/53 - 1
X-107910372-G-A c.3563G>A p.G1188D Missense 40/53 - 4
X-107910372-GC-AG c.3563_3564delinsAG p.G1188E Missense 40/53 - 2
X-107910378-G-A c.3569G>A p.G1190E Missense 40/53 - 2
X-107910380-A-G c.3571A>G p.N1191D Missense 40/53 - 1
X-107910383-C-T c.3574C>T p.P1192S Missense 40/53 - 2
X-107910389-C-A c.3580C>A p.P1194T Missense 40/53 - 1
X-107910390-C-T c.3581C>T p.P1194L Missense 40/53 - 3
X-107910391-C-A c.3582C>A p.P1194= Synonymous 40/53 - 1
X-107910391-C-G c.3582C>G p.P1194= Synonymous 40/53 - 1
X-107910391-C-T c.3582C>T p.P1194= Synonymous 40/53 - 1
X-107910392-C-T c.3583C>T p.P1195S Missense 40/53 - 1
X-107910395-G-A c.3586G>A p.G1196R Missense 40/53 - 3
X-107910395-G-C c.3586G>C p.G1196R Missense 40/53 - 1
X-107910396-G-A c.3587G>A p.G1196E Missense 40/53 - 2
X-107910396-G-T c.3587G>T p.G1196V Missense 40/53 - 2
X-107910397-A-G c.3588A>G p.G1196= Synonymous 40/53 - 1
X-107910401-C-T c.3592C>T p.P1198S Missense 40/53 - 1
X-107910405-G-A c.3596G>A p.G1199E Missense 40/53 - 1
X-107910407-CT-C c.3601del p.S1201Lfs*104 Frameshift 40/53 - 1
X-107910413-G-A c.3604G>A p.G1202S Missense 40/53 - 2
X-107910413-G-T c.3604G>T p.G1202C Missense 40/53 - 2
X-107910414-G-A c.3604+1G>A - IntronicSNV - 40/52 1
X-107910415-T-A c.3604+2T>A - IntronicSNV - 40/52 1
X-107910416-A-T c.3604+3A>T - IntronicSNV - 40/52 1
X-107911549-G-T c.3605G>T p.G1202V Missense 41/53 - 2
X-107911555-A-G c.3611A>G p.K1204R Missense 41/53 - 2
X-107911557-G-A c.3613G>A p.G1205S Missense 41/53 - 3
X-107911557-G-T c.3613G>T p.G1205C Missense 41/53 - 4
X-107911558-G-A c.3614G>A p.G1205D Missense 41/53 - 2
X-107911558-G-T c.3614G>T p.G1205V Missense 41/53 - 4
X-107911558-GT-AG c.3614_3615delinsAG p.G1205E Missense 41/53 - 1
X-107911562-ATGGAG-A c.3618_3622del p.D1206Efs*44 Frameshift 41/53 - 1
X-107911563-GGA-AGC c.3619_3621delinsAGC p.G1207S Missense 41/53 - 1
X-107911563-G-T c.3619G>T p.G1207* Nonsense 41/53 - 1
X-107911564-G-C c.3620G>C p.G1207A Missense 41/53 - 1
X-107911566-G-A c.3622G>A p.G1208R Missense 41/53 - 1
X-107911566-G-C c.3622G>C p.G1208R Missense 41/53 - 1
X-107911567-G-A c.3623G>A p.G1208E Missense 41/53 - 6
X-107911571-A-C c.3627A>C p.L1209F Missense 41/53 - 1
X-107911571-A-G c.3627A>G p.L1209= Synonymous 41/53 - 1
X-107911571-A-T c.3627A>T p.L1209F Missense 41/53 - 1
X-107911572-C-T c.3628C>T p.P1210S Missense 41/53 - 1
X-107911573-C-T c.3629C>T p.P1210L Missense 41/53 - 1
X-107911574-T-C c.3630T>C p.P1210= Synonymous 41/53 - 1
X-107911575-G-A c.3631G>A p.G1211R Missense 41/53 - 1
X-107911575-G-C c.3631G>C p.G1211R Missense 41/53 - 3
X-107911576-G-A c.3632G>A p.G1211E Missense 41/53 - 8
X-107911576-G-T c.3632G>T p.G1211V Missense 41/53 - 3
X-107911581-C-T c.3637C>T p.P1213S Missense 41/53 - 2
X-107911582-C-T c.3638C>T p.P1213L Missense 41/53 - 2
X-107911585-G-A c.3641G>A p.G1214E Missense 41/53 - 5
X-107911590-C-T c.3646C>T p.P1216S Missense 41/53 - 5
X-107911589-TC-T c.3647del p.P1216Lfs*89 Frameshift 41/53 - 1
X-107911591-C-A c.3647C>A p.P1216H Missense 41/53 - 1
X-107911591-C-T c.3647C>T p.P1216L Missense 41/53 - 1
X-107911594-G-A c.3650G>A p.G1217D Missense 41/53 - 3
X-107911595-C-A c.3651C>A p.G1217= Synonymous 41/53 - 1
X-107911595-C-G c.3651C>G p.G1217= Synonymous 41/53 - 1
X-107911595-C-T c.3651C>T p.G1217= Synonymous 41/53 - 2
X-107911597-T-G c.3653T>G p.L1218R Missense 41/53 - 1
X-107911599-C-T c.3655C>T p.P1219S Missense 41/53 - 5
X-107911600-C-T c.3656C>T p.P1219L Missense 41/53 - 4
X-107911598-TCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGG-T c.3657_3715del p.G1220Sfs*12 InFrameDeletion 41/53 - 1
X-107911601-A-C c.3657A>C p.P1219= Synonymous 41/53 - 1
X-107911601-A-G c.3657A>G p.P1219= Synonymous 41/53 - 2
X-107911601-A-T c.3657A>T p.P1219= Synonymous 41/53 - 1
X-107911602-G-A c.3658G>A p.G1220S Missense 41/53 - 1
X-107911603-G-A c.3659G>A p.G1220D Missense 41/53 - 7
X-107911603-G-T c.3659G>T p.G1220V Missense 41/53 - 3
X-107911605-C-A c.3661C>A p.P1221T Missense 41/53 - 1
X-107911605-C-T c.3661C>T p.P1221S Missense 41/53 - 3
X-107911610-G-A c.3666G>A p.K1222= Synonymous 41/53 - 1
X-107911610-G-T c.3666G>T p.K1222N Missense 41/53 - 2
X-107911612-G-A c.3668G>A p.G1223D Missense 41/53 - 2
X-107911612-G-T c.3668G>T p.G1223V Missense 41/53 - 3
X-107911614-G-A c.3670G>A p.E1224K Missense 41/53 - 9
X-107911622-C-T c.3678C>T p.G1226= Synonymous 41/53 - 2
X-107911628-C-T c.3684C>T p.H1228= Synonymous 41/53 - 2
X-107911629-G-A c.3685G>A p.G1229S Missense 41/53 - 5
X-107911629-G-T c.3685G>T p.G1229C Missense 41/53 - 4
X-107911630-G-A c.3686G>A p.G1229D Missense 41/53 - 4
X-107911630-G-T c.3686G>T p.G1229V Missense 41/53 - 2
X-107911634-C-T c.3690C>T p.F1230= Synonymous 41/53 - 2
X-107911635-C-T c.3691C>T p.P1231S Missense 41/53 - 2
X-107911633-TC-T c.3692del p.P1231Lfs*74 Frameshift 41/53 - 1
X-107911633-T-TC c.3692dup p.G1232Wfs*20 Frameshift 41/53 - 1
X-107911638-G-A c.3694G>A p.G1232S Missense 41/53 - 2
X-107911639-G-A c.3695G>A p.G1232D Missense 41/53 - 1
X-107911639-G-C c.3695G>C p.G1232A Missense 41/53 - 1
X-107911639-G-T c.3695G>T p.G1232V Missense 41/53 - 1
X-107911640-T-A c.3696T>A p.G1232= Synonymous 41/53 - 1
X-107911640-T-C c.3696T>C p.G1232= Synonymous 41/53 - 1
X-107911640-T-G c.3696T>G p.G1232= Synonymous 41/53 - 1
X-107911643-G-A c.3699G>A p.V1233= Synonymous 41/53 - 1
X-107911644-C-T c.3700C>T p.Q1234* Nonsense 41/53 - 5
X-107911647-G-T c.3703G>T p.G1235C Missense 41/53 - 3
X-107911648-G-A c.3704G>A p.G1235D Missense 41/53 - 2
X-107911648-G-C c.3704G>C p.G1235A Missense 41/53 - 2
X-107911648-G-T c.3704G>T p.G1235V Missense 41/53 - 3
X-107911650-C-T c.3706C>T p.P1236S Missense 41/53 - 2
X-107911651-C-T c.3707C>T p.P1236L Missense 41/53 - 5
X-107911653-C-T c.3709C>T p.P1237S Missense 41/53 - 5
X-107911650-CCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA-C c.3710_3761del p.P1237Lfs*51 Frameshift 41/53 - 1
X-107911657-G-A c.3713G>A p.G1238D Missense 41/53 - 1
X-107911660-C-A c.3716C>A p.P1239H Missense 41/53 - 3
X-107911660-C-T c.3716C>T p.P1239L Missense 41/53 - 2
X-107911665-G-C c.3721G>C p.G1241R Missense 41/53 - 2
X-107911665-G-T c.3721G>T p.G1241C Missense 41/53 - 3
X-107911666-G-A c.3722G>A p.G1241D Missense 41/53 - 3
X-107911666-G-T c.3722G>T p.G1241V Missense 41/53 - 2
X-107911669-C-T c.3725C>T p.S1242F Missense 41/53 - 1
X-107911671-C-T c.3727C>T p.P1243S Missense 41/53 - 4
X-107911672-C-T c.3728C>T p.P1243L Missense 41/53 - 5
X-107911674-G-A c.3730G>A p.G1244S Missense 41/53 - 1
X-107911675-G-A c.3731G>A p.G1244D Missense 41/53 - 6
X-107911678-C-T c.3734C>T p.P1245L Missense 41/53 - 1
X-107911680-G-T c.3736G>T p.A1246S Missense 41/53 - 1
X-107911683-C-G c.3739C>G p.L1247V Missense 41/53 - 2
X-107911683-C-T c.3739C>T p.L1247= Synonymous 41/53 - 1
X-107911685-G-A c.3741G>A p.L1247= Synonymous 41/53 - 1
X-107911685-G-C c.3741G>C p.L1247= Synonymous 41/53 - 1
X-107911685-G-T c.3741G>T p.L1247= Synonymous 41/53 - 1
X-107911689-G-A c.3745G>A p.G1249R Missense 41/53 - 1
X-107911689-G-T c.3745G>T p.G1249* Nonsense 41/53 - 3
X-107911688-AG-A c.3746del p.G1249Dfs*56 Frameshift 41/53 - 2
X-107911692-C-T c.3748C>T p.P1250S Missense 41/53 - 1
X-107911698-G-A c.3754G>A p.G1252S Missense 41/53 - 4
X-107911706-T-A c.3762T>A p.P1254= Synonymous 41/53 - 2
X-107911706-T-C c.3762T>C p.P1254= Synonymous 41/53 - 2
X-107911706-T-G c.3762T>G p.P1254= Synonymous 41/53 - 3
X-107911707-G-A c.3763G>A p.G1255R Missense 41/53 - 2
X-107911710-C-A c.3766C>A p.P1256T Missense 41/53 - 1
X-107911710-C-T c.3766C>T p.P1256S Missense 41/53 - 1
X-107911711-C-T c.3767C>T p.P1256L Missense 41/53 - 1
X-107911712-C-T c.3768C>T p.P1256= Synonymous 41/53 - 1
X-107911713-C-A c.3769C>A p.Q1257K Missense 41/53 - 1
X-107911714-A-G c.3770A>G p.Q1257R Missense 41/53 - 1
X-107911714-A-T c.3770A>T p.Q1257L Missense 41/53 - 1
X-107911715-A-C c.3771A>C p.Q1257H Missense 41/53 - 1
X-107911715-A-T c.3771A>T p.Q1257H Missense 41/53 - 1
X-107911716-G-A c.3772G>A p.G1258S Missense 41/53 - 4
X-107911719-C-A c.3775C>A p.P1259T Missense 41/53 - 2
X-107911725-G-A c.3781G>A p.G1261R Missense 41/53 - 2
X-107911726-G-A c.3782G>A p.G1261E Missense 41/53 - 5
X-107911727-G-A c.3783G>A p.G1261= Synonymous 41/53 - 2
X-107911727-G-C c.3783G>C p.G1261= Synonymous 41/53 - 1
X-107911727-G-T c.3783G>T p.G1261= Synonymous 41/53 - 1
X-107911729-G-A c.3785G>A p.R1262K Missense 41/53 - 2
X-107911728-A-C c.3784A>C p.R1262= Synonymous 41/53 - 1
X-107911730-A-G c.3786A>G p.R1262= Synonymous 41/53 - 1
X-107911731-C-T c.3787C>T p.P1263S Missense 41/53 - 4
X-107911732-C-G c.3788C>G p.P1263R Missense 41/53 - 1
X-107911734-G-A c.3790G>A p.G1264S Missense 41/53 - 4
X-107911734-G-C c.3790G>C p.G1264R Missense 41/53 - 1
X-107911733-AG-A c.3790+1del - IntronicDeletion - 41/52 1
X-107911735-G-A c.3790+1G>A - IntronicSNV - 41/52 1
X-107911845-A-G c.3790+111A>G - IntronicSNV - 41/52 1
X-107913458-G-A c.3791G>A p.G1264D Missense 42/53 - 1
X-107913463-A-G c.3796A>G p.T1266A Missense 42/53 - 2
X-107913466-G-A c.3799G>A p.G1267S Missense 42/53 - 3
X-107913935-A-G c.3799+469A>G - IntronicSNV - 42/52 1
X-107914269-GA-G c.3799+813del - IntronicDeletion - 42/52 1
X-107917815-G-A c.3800-160G>A - IntronicSNV - 42/52 1
X-107917815-G-C c.3800-160G>C - IntronicSNV - 42/52 1
X-107917975-G-T c.3800G>T p.G1267V Missense 43/53 - 1
X-107917983-G-A c.3808G>A p.G1270S Missense 43/53 - 2
X-107917984-G-C c.3808+1G>C - IntronicSNV - 43/52 1
X-107918005-TTC-T c.3808+24_3808+25del - IntronicDeletion - 43/52 1
X-107918007-TC-T c.3808+24del - IntronicDeletion - 43/52 1
X-107918007-CTT-C c.3808+41_3808+42del - IntronicDeletion - 43/52 1
X-107918007-CT-C c.3808+42del - IntronicDeletion - 43/52 1
X-107918034-G-T c.3808+51G>T - IntronicSNV - 43/52 1
X-107920732-C-T c.3811C>T p.L1271= Synonymous 44/53 - 2
X-107920734-A-C c.3813A>C p.L1271= Synonymous 44/53 - 1
X-107920734-A-G c.3813A>G p.L1271= Synonymous 44/53 - 1
X-107920734-A-T c.3813A>T p.L1271= Synonymous 44/53 - 1
X-107920736-C-T c.3815C>T p.P1272L Missense 44/53 - 1
X-107920738-G-A c.3817G>A p.G1273S Missense 44/53 - 3
X-107920739-G-C c.3818G>C p.G1273A Missense 44/53 - 1
X-107920740-GTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAATC-G c.3819_3877del p.P1274Rfs*23 InFrameDeletion 44/53 - 2
X-107920741-C-A c.3820C>A p.P1274T Missense 44/53 - 1
X-107920741-C-T c.3820C>T p.P1274S Missense 44/53 - 2
X-107920744-G-T c.3823G>T p.E1275* Nonsense 44/53 - 1
X-107920747-G-A c.3826G>A p.G1276S Missense 44/53 - 3
X-107920748-G-A c.3827G>A p.G1276D Missense 44/53 - 1
X-107920750-C-A c.3829C>A p.P1277T Missense 44/53 - 2
X-107920750-C-T c.3829C>T p.P1277S Missense 44/53 - 4
X-107920753-C-T c.3832C>T p.P1278S Missense 44/53 - 1
X-107920752-TC-T c.3833del p.P1278Qfs*27 Frameshift 44/53 - 1
X-107920754-C-T c.3833C>T p.P1278L Missense 44/53 - 1
X-107920756-G-A c.3835G>A p.G1279S Missense 44/53 - 1
X-107920756-G-T c.3835G>T p.G1279C Missense 44/53 - 1
X-107920757-G-A c.3836G>A p.G1279D Missense 44/53 - 1
X-107920759-C-T c.3838C>T p.L1280F Missense 44/53 - 1
X-107920762-C-T c.3841C>T p.P1281S Missense 44/53 - 1
X-107920766-G-A c.3845G>A p.G1282E Missense 44/53 - 4
X-107920771-G-A c.3850G>A p.G1284R Missense 44/53 - 1
X-107920771-G-C c.3850G>C p.G1284R Missense 44/53 - 1
X-107920772-G-C c.3851G>C p.G1284A Missense 44/53 - 1
X-107920774-G-A c.3853G>A p.G1285S Missense 44/53 - 4
X-107920773-AG-A c.3854del p.G1285Vfs*20 Frameshift 44/53 - 1
X-107920775-GT-AG c.3854_3855delinsAG p.G1285E Missense 44/53 - 2
X-107920785-A-C c.3864A>C p.G1288= Synonymous 44/53 - 1
X-107920785-A-G c.3864A>G p.G1288= Synonymous 44/53 - 1
X-107920785-A-T c.3864A>T p.G1288= Synonymous 44/53 - 1
X-107920790-A-C c.3869A>C p.K1290T Missense 44/53 - 1
X-107920793-G-A c.3872G>A p.G1291E Missense 44/53 - 1
X-107920797-T-G c.3876T>G p.N1292K Missense 44/53 - 1
X-107920804-C-T c.3883C>T p.Q1295* Nonsense 44/53 - 1
X-107920807-C-T c.3886C>T p.P1296S Missense 44/53 - 2
X-107920808-C-T c.3887C>T p.P1296L Missense 44/53 - 1
X-107920813-C-T c.3892C>T p.L1298= Synonymous 44/53 - 1
X-107920820-G-C c.3899G>C p.G1300A Missense 44/53 - 2
X-107920825-C-T c.3904C>T p.P1302S Missense 44/53 - 1
X-107920826-C-T c.3905C>T p.P1302L Missense 44/53 - 2
X-107920829-G-C c.3908G>C p.G1303A Missense 44/53 - 2
X-107920831-T-C c.3910T>C p.L1304= Synonymous 44/53 - 1
X-107920831-T-G c.3910T>G p.L1304V Missense 44/53 - 1
X-107920833-G-A c.3912G>A p.L1304= Synonymous 44/53 - 1
X-107920836-AG-A c.3917del p.G1306Efs*20 Frameshift 44/53 - 1
X-107920838-G-A c.3917G>A p.G1306E Missense 44/53 - 1
X-107920840-G-A c.3919G>A p.D1307N Missense 44/53 - 2
X-107920843-C-A c.3922C>A p.Q1308K Missense 44/53 - 1
X-107920844-A-G c.3923A>G p.Q1308R Missense 44/53 - 2
X-107920845-A-C c.3924A>C p.Q1308H Missense 44/53 - 3
X-107920845-A-T c.3924A>T p.Q1308H Missense 44/53 - 3
X-107920846-G-C c.3925G>C p.G1309R Missense 44/53 - 1
X-107920847-G-A c.3926G>A p.G1309E Missense 44/53 - 1
X-107920852-C-G c.3931C>G p.P1311A Missense 44/53 - 1
X-107920852-C-T c.3931C>T p.P1311S Missense 44/53 - 7
X-107920853-C-T c.3932C>T p.P1311L Missense 44/53 - 2
X-107920856-G-C c.3935G>C p.G1312A Missense 44/53 - 1
X-107920858-C-A c.3937C>A p.L1313I Missense 44/53 - 1
X-107920859-CT-C c.3938del p.L1313Pfs*13 Frameshift 44/53 - 1
X-107920859-T-C c.3938T>C p.L1313P Missense 44/53 - 1
X-107920861-C-T c.3940C>T p.Q1314* Nonsense 44/53 - 2
X-107920863-G-A c.3942G>A p.Q1314= Synonymous 44/53 - 1
X-107920863-G-C c.3942G>C p.Q1314H Missense 44/53 - 2
X-107920863-G-T c.3942G>T p.Q1314H Missense 44/53 - 1
X-107920864-G-C c.3942+1G>C - IntronicSNV - 44/52 1
X-107920865-T-G c.3942+2T>G - IntronicSNV - 44/52 1
X-107923909-G-A c.3943G>A p.G1315S Missense 45/53 - 1
X-107923914-T-G c.3948T>G p.N1316K Missense 45/53 - 1
X-107923920-C-T c.3954C>T p.G1318= Synonymous 45/53 - 2
X-107923921-C-A c.3955C>A p.R1319= Synonymous 45/53 - 1
X-107923921-C-T c.3955C>T p.R1319W Missense 45/53 - 1