KCND2

KCND2 potassium voltage-gated channel subfamily D member 2

Annotation transcript: NM_012281.3

1350 unique variant annotations were identified in 534 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-119914673-C-T c.-14C>T - 5-UTRSNV 1/6 - 1
7-119914689-G-A c.3G>A p.M1? Missense 1/6 - 1
7-119914689-G-C c.3G>C p.M1? Missense 1/6 - 1
7-119914689-G-T c.3G>T p.M1? Missense 1/6 - 1
7-119914691-C-T c.5C>T p.A2V Missense 1/6 - 6
7-119914694-C-T c.8C>T p.A3V Missense 1/6 - 5
7-119914695-G-A c.9G>A p.A3= Synonymous 1/6 - 1
7-119914695-G-C c.9G>C p.A3= Synonymous 1/6 - 3
7-119914697-G-A c.11G>A p.G4E Missense 1/6 - 1
7-119914697-G-T c.11G>T p.G4V Missense 1/6 - 1
7-119914698-G-A c.12G>A p.G4= Synonymous 1/6 - 2
7-119914694-CG-C c.13del p.V5Wfs*41 Frameshift 1/6 - 6
7-119914699-G-C c.13G>C p.V5L Missense 1/6 - 1
7-119914699-G-T c.13G>T p.V5L Missense 1/6 - 1
7-119914701-G-A c.15G>A p.V5= Synonymous 1/6 - 3
7-119914701-G-C c.15G>C p.V5= Synonymous 1/6 - 1
7-119914701-G-T c.15G>T p.V5= Synonymous 1/6 - 1
7-119914703-C-G c.17C>G p.A6G Missense 1/6 - 1
7-119914706-C-T c.20C>T p.A7V Missense 1/6 - 3
7-119914707-G-A c.21G>A p.A7= Synonymous 1/6 - 1
7-119914707-G-C c.21G>C p.A7= Synonymous 1/6 - 1
7-119914707-G-T c.21G>T p.A7= Synonymous 1/6 - 1
7-119914714-CCT-AAG c.28_30delinsAAG p.P10K Missense 1/6 - 1
7-119914714-C-T c.28C>T p.P10S Missense 1/6 - 2
7-119914715-C-A c.29C>A p.P10H Missense 1/6 - 2
7-119914717-T-C c.31T>C p.F11L Missense 1/6 - 3
7-119914717-TT-CG c.31_32delinsCG p.F11R Missense 1/6 - 3
7-119914717-TT-GC c.31_32delinsGC p.F11A Missense 1/6 - 1
7-119914717-TTT-AAG c.31_33delinsAAG p.F11K Missense 1/6 - 2
7-119914719-T-A c.33T>A p.F11L Missense 1/6 - 2
7-119914719-T-G c.33T>G p.F11L Missense 1/6 - 3
7-119914720-GC-AA c.34_35delinsAA p.A12K Missense 1/6 - 1
7-119914720-GC-CT c.34_35delinsCT p.A12L Missense 1/6 - 1
7-119914720-GC-TA c.34_35delinsTA p.A12* Nonsense 1/6 - 1
7-119914720-G-T c.34G>T p.A12S Missense 1/6 - 1
7-119914723-AG-GA c.37_38delinsGA p.R13E Missense 1/6 - 1
7-119914724-G-A c.38G>A p.R13K Missense 1/6 - 1
7-119914725-G-C c.39G>C p.R13S Missense 1/6 - 1
7-119914726-G-A c.40G>A p.A14T Missense 1/6 - 1
7-119914726-G-C c.40G>C p.A14P Missense 1/6 - 1
7-119914726-GC-AA c.40_41delinsAA p.A14K Missense 1/6 - 2
7-119914726-G-T c.40G>T p.A14S Missense 1/6 - 1
7-119914727-C-T c.41C>T p.A14V Missense 1/6 - 2
7-119914729-GC-AA c.43_44delinsAA p.A15K Missense 1/6 - 1
7-119914730-C-T c.44C>T p.A15V Missense 1/6 - 1
7-119914731-G-A c.45G>A p.A15= Synonymous 1/6 - 1
7-119914732-GC-TA c.46_47delinsTA p.A16Y Missense 1/6 - 2
7-119914732-GCT-AAG c.46_48delinsAAG p.A16K Missense 1/6 - 1
7-119914732-G-T c.46G>T p.A16S Missense 1/6 - 1
7-119914736-TC-AG c.50_51delinsAG p.I17K Missense 1/6 - 1
7-119914737-C-A c.51C>A p.I17= Synonymous 1/6 - 2
7-119914737-C-G c.51C>G p.I17M Missense 1/6 - 2
7-119914737-C-T c.51C>T p.I17= Synonymous 1/6 - 4
7-119914738-G-A c.52G>A p.G18R Missense 1/6 - 3
7-119914738-G-C c.52G>C p.G18R Missense 1/6 - 2
7-119914738-GG-AA c.52_53delinsAA p.G18K Missense 1/6 - 2
7-119914738-GG-TA c.52_53delinsTA p.G18* Nonsense 1/6 - 1
7-119914739-G-A c.53G>A p.G18E Missense 1/6 - 4
7-119914737-C-CG c.54dup p.W19Vfs*53 Frameshift 1/6 - 1
7-119914741-TG-AA c.55_56delinsAA p.W19K Missense 1/6 - 1
7-119914742-G-A c.56G>A p.W19* Nonsense 1/6 - 1
7-119914743-G-A c.57G>A p.W19* Nonsense 1/6 - 6
7-119914745-T-A c.59T>A p.M20K Missense 1/6 - 1
7-119914745-T-G c.59T>G p.M20R Missense 1/6 - 1
7-119914747-CCT-AAG c.61_63delinsAAG p.P21K Missense 1/6 - 1
7-119914748-C-A c.62C>A p.P21H Missense 1/6 - 1
7-119914750-G-C c.64G>C p.V22L Missense 1/6 - 1
7-119914750-GT-AA c.64_65delinsAA p.V22K Missense 1/6 - 1
7-119914753-GCC-AAG c.67_69delinsAAG p.A23K Missense 1/6 - 1
7-119914754-C-T c.68C>T p.A23V Missense 1/6 - 2
7-119914756-TC-AA c.70_71delinsAA p.S24K Missense 1/6 - 1
7-119914756-TC-GA c.70_71inv p.S24E Missense 1/6 - 1
7-119914757-C-T c.71C>T p.S24L Missense 1/6 - 6
7-119914758-G-A c.72G>A p.S24= Synonymous 1/6 - 1
7-119914759-GG-AA c.73_74delinsAA p.G25K Missense 1/6 - 1
7-119914760-G-T c.74G>T p.G25V Missense 1/6 - 1
7-119914762-CCT-AAG c.76_78delinsAAG p.P26K Missense 1/6 - 1
7-119914762-GCC-G c.76_77del p.P26Yfs*45 Frameshift 1/6 - 1
7-119914766-T-A c.80T>A p.M27K Missense 1/6 - 1
7-119914768-CC-AA c.82_83delinsAA p.P28K Missense 1/6 - 1
7-119914768-C-T c.82C>T p.P28S Missense 1/6 - 2
7-119914769-C-T c.83C>T p.P28L Missense 1/6 - 2
7-119914770-G-A c.84G>A p.P28= Synonymous 1/6 - 5
7-119914770-G-C c.84G>C p.P28= Synonymous 1/6 - 2
7-119914770-G-T c.84G>T p.P28= Synonymous 1/6 - 2
7-119914771-G-A c.85G>A p.A29T Missense 1/6 - 3
7-119914771-GC-CT c.85_86delinsCT p.A29L Missense 1/6 - 3
7-119914771-GCT-ATG c.85_87delinsATG p.A29M Missense 1/6 - 1
7-119914771-GC-TG c.85_86delinsTG p.A29C Missense 1/6 - 1
7-119914772-C-A c.86C>A p.A29D Missense 1/6 - 2
7-119914772-C-CA c.86_87insA p.P30Sfs*42 Frameshift 1/6 - 1
7-119914772-C-G c.86C>G p.A29G Missense 1/6 - 1
7-119914772-CT-AG c.86_87inv p.A29E Missense 1/6 - 1
7-119914773-T-TAG c.87_88insAG p.P30Sfs*17 Frameshift 1/6 - 1
7-119914774-C-A c.88C>A p.P30T Missense 1/6 - 2
7-119914774-CCC-AAG c.88_90delinsAAG p.P30K Missense 1/6 - 1
7-119914774-C-G c.88C>G p.P30A Missense 1/6 - 1
7-119914774-C-T c.88C>T p.P30S Missense 1/6 - 1
7-119914776-C-A c.90C>A p.P30= Synonymous 1/6 - 1
7-119914777-C-T c.91C>T p.P31S Missense 1/6 - 1
7-119914779-G-A c.93G>A p.P31= Synonymous 1/6 - 3
7-119914779-G-C c.93G>C p.P31= Synonymous 1/6 - 3
7-119914779-G-T c.93G>T p.P31= Synonymous 1/6 - 3
7-119914780-AG-CA c.94_95delinsCA p.R32Q Missense 1/6 - 1
7-119914781-G-T c.95G>T p.R32M Missense 1/6 - 1
7-119914782-G-A c.96G>A p.R32= Synonymous 1/6 - 1
7-119914783-CA-AC c.97_98delinsAC p.Q33T Missense 1/6 - 1
7-119914783-C-G c.97C>G p.Q33E Missense 1/6 - 3
7-119914784-A-C c.98A>C p.Q33P Missense 1/6 - 1
7-119914784-A-G c.98A>G p.Q33R Missense 1/6 - 3
7-119914785-G-T c.99G>T p.Q33H Missense 1/6 - 1
7-119914786-G-A c.100G>A p.E34K Missense 1/6 - 3
7-119914790-G-A c.104G>A p.R35K Missense 1/6 - 5
7-119914791-G-A c.105G>A p.R35= Synonymous 1/6 - 4
7-119914791-G-C c.105G>C p.R35S Missense 1/6 - 1
7-119914791-G-T c.105G>T p.R35S Missense 1/6 - 1
7-119914793-A-T c.107A>T p.K36I Missense 1/6 - 2
7-119914795-AG-GA c.109_110delinsGA p.R37E Missense 1/6 - 1
7-119914796-G-A c.110G>A p.R37K Missense 1/6 - 2
7-119914798-A-G c.112A>G p.T38A Missense 1/6 - 3
7-119914801-C-A c.115C>A p.Q39K Missense 1/6 - 1
7-119914804-G-T c.118G>T p.D40Y Missense 1/6 - 1
7-119914807-G-T c.121G>T p.A41S Missense 1/6 - 1
7-119914808-C-G c.122C>G p.A41G Missense 1/6 - 3
7-119914812-C-A c.126C>A p.L42= Synonymous 1/6 - 1
7-119914812-C-G c.126C>G p.L42= Synonymous 1/6 - 1
7-119914812-C-T c.126C>T p.L42= Synonymous 1/6 - 1
7-119914816-G-A c.130G>A p.V44M Missense 1/6 - 1
7-119914820-T-G c.134T>G p.L45R Missense 1/6 - 2
7-119914819-C-T c.133C>T p.L45= Synonymous 1/6 - 4
7-119914821-G-A c.135G>A p.L45= Synonymous 1/6 - 5
7-119914821-G-C c.135G>C p.L45= Synonymous 1/6 - 5
7-119914821-G-T c.135G>T p.L45= Synonymous 1/6 - 6
7-119914823-A-G c.137A>G p.N46S Missense 1/6 - 1
7-119914830-T-C c.144T>C p.S48= Synonymous 1/6 - 1
7-119914836-C-A c.150C>A p.T50= Synonymous 1/6 - 1
7-119914836-C-G c.150C>G p.T50= Synonymous 1/6 - 1
7-119914836-C-T c.150C>T p.T50= Synonymous 1/6 - 1
7-119914837-C-A c.151C>A p.R51S Missense 1/6 - 1
7-119914837-CG-GC c.151_152delinsGC p.R51A Missense 1/6 - 1
7-119914838-G-A c.152G>A p.R51H Missense 1/6 - 3
7-119914839-C-T c.153C>T p.R51= Synonymous 1/6 - 1
7-119914840-T-C c.154T>C p.F52L Missense 1/6 - 1
7-119914842-C-G c.156C>G p.F52L Missense 1/6 - 1
7-119914841-T-C c.155T>C p.F52S Missense 1/6 - 1
7-119914842-C-A c.156C>A p.F52L Missense 1/6 - 2
7-119914843-C-G c.157C>G p.Q53E Missense 1/6 - 3
7-119914845-G-C c.159G>C p.Q53H Missense 1/6 - 1
7-119914847-C-T c.161C>T p.T54M Missense 1/6 - 1
7-119914850-G-A c.164G>A p.W55* Nonsense 1/6 - 1
7-119914851-G-A c.165G>A p.W55* Nonsense 1/6 - 1
7-119914853-A-T c.167A>T p.Q56L Missense 1/6 - 1
7-119914854-G-A c.168G>A p.Q56= Synonymous 1/6 - 3
7-119914855-G-A c.169G>A p.D57N Missense 1/6 - 1
7-119914855-G-T c.169G>T p.D57Y Missense 1/6 - 1
7-119914859-CC-TG c.173_174delinsTG p.T58M Missense 1/6 - 1
7-119914859-C-T c.173C>T p.T58I Missense 1/6 - 1
7-119914860-C-G c.174C>G p.T58= Synonymous 1/6 - 4
7-119914860-C-T c.174C>T p.T58= Synonymous 1/6 - 1
7-119914862-T-C c.176T>C p.L59P Missense 1/6 - 1
7-119914867-C-G c.181C>G p.R61G Missense 1/6 - 1
7-119914867-C-T c.181C>T p.R61C Missense 1/6 - 2
7-119914868-G-A c.182G>A p.R61H Missense 1/6 - 2
7-119914872-C-T c.186C>T p.Y62= Synonymous 1/6 - 1
7-119914872-C-CCG c.187_188insGC p.P63Rfs*35 Frameshift 1/6 - 1
7-119914873-C-A c.187C>A p.P63T Missense 1/6 - 4
7-119914873-C-CTCATGT c.187_188insTCATGT p.P63delinsLMS MultiAAMissense 1/6 - 1
7-119914873-C-G c.187C>G p.P63A Missense 1/6 - 2
7-119914874-C-A c.188C>A p.P63Q Missense 1/6 - 1
7-119914876-GAC-AAG c.190_192delinsAAG p.D64K Missense 1/6 - 1
7-119914878-C-A c.192C>A p.D64E Missense 1/6 - 1
7-119914879-A-C c.193A>C p.T65P Missense 1/6 - 1
7-119914881-T-A c.195T>A p.T65= Synonymous 1/6 - 1
7-119914881-T-C c.195T>C p.T65= Synonymous 1/6 - 1
7-119914881-T-G c.195T>G p.T65= Synonymous 1/6 - 1
7-119914882-CT-AA c.196_197delinsAA p.L66K Missense 1/6 - 1
7-119914882-CTA-GAC c.196_198delinsGAC p.L66D Missense 1/6 - 1
7-119914883-T-G c.197T>G p.L66R Missense 1/6 - 1
7-119914885-C-G c.199C>G p.L67V Missense 1/6 - 2
7-119914885-C-T c.199C>T p.L67= Synonymous 1/6 - 1
7-119914890-C-A c.204C>A p.G68= Synonymous 1/6 - 1
7-119914891-AG-GA c.205_206delinsGA p.S69D Missense 1/6 - 1
7-119914892-G-A c.206G>A p.S69N Missense 1/6 - 2
7-119914894-TC-GA c.208_209inv p.S70D Missense 1/6 - 1
7-119914894-TCT-AAG c.208_210delinsAAG p.S70K Missense 1/6 - 1
7-119914896-T-C c.210T>C p.S70= Synonymous 1/6 - 1
7-119914897-G-A c.211G>A p.E71K Missense 1/6 - 1
7-119914901-G-T c.215G>T p.R72M Missense 1/6 - 3
7-119914904-A-G c.218A>G p.D73G Missense 1/6 - 1
7-119914906-T-G c.220T>G p.F74V Missense 1/6 - 2
7-119914906-TTT-AAG c.220_222delinsAAG p.F74K Missense 1/6 - 1
7-119914909-T-C c.223T>C p.F75L Missense 1/6 - 1
7-119914909-TTC-AAG c.223_225delinsAAG p.F75K Missense 1/6 - 1
7-119914911-C-A c.225C>A p.F75L Missense 1/6 - 1
7-119914911-C-G c.225C>G p.F75L Missense 1/6 - 1
7-119914905-CT-C c.224del p.F75Sfs*22 Frameshift 1/6 - 1
7-119914912-TA-GC c.226_227delinsGC p.Y76A Missense 1/6 - 1
7-119914912-TA-GT c.226_227delinsGT p.Y76V Missense 1/6 - 1
7-119914914-C-A c.228C>A p.Y76* Nonsense 1/6 - 1
7-119914914-C-G c.228C>G p.Y76* Nonsense 1/6 - 1
7-119914912-TACC-T c.230_232del p.H77del InFrameDeletion 1/6 - 1
7-119914917-C-T c.231C>T p.H77= Synonymous 1/6 - 1
7-119914918-C-A c.232C>A p.P78T Missense 1/6 - 2
7-119914919-C-A c.233C>A p.P78Q Missense 1/6 - 2
7-119914921-G-A c.235G>A p.E79K Missense 1/6 - 1
7-119914922-A-C c.236A>C p.E79A Missense 1/6 - 1
7-119914926-T-A c.240T>A p.T80= Synonymous 1/6 - 1
7-119914927-CA-GC c.241_242delinsGC p.Q81A Missense 1/6 - 1
7-119914927-C-T c.241C>T p.Q81* Nonsense 1/6 - 1
7-119914929-G-T c.243G>T p.Q81H Missense 1/6 - 1
7-119914936-T-C c.250T>C p.F84L Missense 1/6 - 2
7-119914938-C-A c.252C>A p.F84L Missense 1/6 - 3
7-119914938-C-G c.252C>G p.F84L Missense 1/6 - 2
7-119914937-T-C c.251T>C p.F84S Missense 1/6 - 1
7-119914938-C-T c.252C>T p.F84= Synonymous 1/6 - 5
7-119914939-T-C c.253T>C p.F85L Missense 1/6 - 1
7-119914940-T-C c.254T>C p.F85S Missense 1/6 - 1
7-119914945-C-A c.259C>A p.R87S Missense 1/6 - 2
7-119914945-C-G c.259C>G p.R87G Missense 1/6 - 4
7-119914945-C-T c.259C>T p.R87C Missense 1/6 - 1
7-119914946-G-A c.260G>A p.R87H Missense 1/6 - 1
7-119914946-G-C c.260G>C p.R87P Missense 1/6 - 1
7-119914950-C-A c.264C>A p.D88E Missense 1/6 - 1
7-119914951-C-T c.265C>T p.P89S Missense 1/6 - 5
7-119914959-C-G c.273C>G p.I91M Missense 1/6 - 1
7-119914961-T-C c.275T>C p.F92S Missense 1/6 - 3
7-119914962-C-T c.276C>T p.F92= Synonymous 1/6 - 1
7-119914963-CG-GC c.277_278delinsGC p.R93A Missense 1/6 - 1
7-119914967-A-G c.281A>G p.H94R Missense 1/6 - 1
7-119914976-A-T c.290A>T p.N97I Missense 1/6 - 1
7-119914978-T-A c.292T>A p.F98I Missense 1/6 - 1
7-119914980-C-T c.294C>T p.F98= Synonymous 1/6 - 4
7-119914982-A-G c.296A>G p.Y99C Missense 1/6 - 1
7-119914983-C-T c.297C>T p.Y99= Synonymous 1/6 - 2
7-119914984-C-A c.298C>A p.R100S Missense 1/6 - 1
7-119914984-C-T c.298C>T p.R100C Missense 1/6 - 4
7-119914985-G-A c.299G>A p.R100H Missense 1/6 - 10
7-119914985-G-T c.299G>T p.R100L Missense 1/6 - 2
7-119914986-C-A c.300C>A p.R100= Synonymous 1/6 - 2
7-119914988-C-A c.302C>A p.T101N Missense 1/6 - 1
7-119914990-G-T c.304G>T p.G102W Missense 1/6 - 1
7-119914991-G-A c.305G>A p.G102E Missense 1/6 - 2
7-119914991-G-T c.305G>T p.G102V Missense 1/6 - 1
7-119914989-TG-T c.306del p.K103Sfs*63 Frameshift 1/6 - 1
7-119914995-G-T c.309G>T p.K103N Missense 1/6 - 1
7-119914999-C-T c.313C>T p.H105Y Missense 1/6 - 4
7-119915003-A-G c.317A>G p.Y106C Missense 1/6 - 1
7-119915005-C-A c.319C>A p.P107T Missense 1/6 - 4
7-119915005-C-T c.319C>T p.P107S Missense 1/6 - 1
7-119915008-CGC-TGA c.322_324delinsTGA p.R108* Nonsense 1/6 - 1
7-119915008-C-T c.322C>T p.R108C Missense 1/6 - 3
7-119915008-TC-T c.322del p.R108Afs*58 Frameshift 1/6 - 1
7-119915009-G-A c.323G>A p.R108H Missense 1/6 - 1
7-119915013-C-A c.327C>A p.H109Q Missense 1/6 - 2
7-119915013-C-G c.327C>G p.H109Q Missense 1/6 - 1
7-119915013-C-T c.327C>T p.H109= Synonymous 1/6 - 2
7-119915014-G-A c.328G>A p.E110K Missense 1/6 - 5
7-119915014-G-C c.328G>C p.E110Q Missense 1/6 - 1
7-119915017-TG-GC c.331_332delinsGC p.C111A Missense 1/6 - 1
7-119915017-T-TAA c.331_332insAA p.C111* Nonsense 1/6 - 1
7-119915022-C-A c.336C>A p.I112= Synonymous 1/6 - 2
7-119915022-C-T c.336C>T p.I112= Synonymous 1/6 - 3
7-119915026-G-A c.340G>A p.A114T Missense 1/6 - 1
7-119915031-C-T c.345C>T p.Y115= Synonymous 1/6 - 2
7-119915032-G-A c.346G>A p.D116N Missense 1/6 - 10
7-119915035-G-A c.349G>A p.E117K Missense 1/6 - 2
7-119915038-G-A c.352G>A p.E118K Missense 1/6 - 2
7-119915040-A-G c.354A>G p.E118= Synonymous 1/6 - 1
7-119915045-C-T c.359C>T p.A120V Missense 1/6 - 1
7-119915046-C-T c.360C>T p.A120= Synonymous 1/6 - 3
7-119915047-T-C c.361T>C p.F121L Missense 1/6 - 1
7-119915047-T-G c.361T>G p.F121V Missense 1/6 - 1
7-119915049-C-A c.363C>A p.F121L Missense 1/6 - 1
7-119915049-C-G c.363C>G p.F121L Missense 1/6 - 1
7-119915048-T-C c.362T>C p.F121S Missense 1/6 - 1
7-119915053-G-A c.367G>A p.G123S Missense 1/6 - 1
7-119915055-C-A c.369C>A p.G123= Synonymous 1/6 - 1
7-119915055-C-G c.369C>G p.G123= Synonymous 1/6 - 1
7-119915055-C-T c.369C>T p.G123= Synonymous 1/6 - 1
7-119915056-C-T c.370C>T p.L124F Missense 1/6 - 1
7-119915059-A-G c.373A>G p.I125V Missense 1/6 - 1
7-119915061-C-A c.375C>A p.I125= Synonymous 1/6 - 3
7-119915061-C-T c.375C>T p.I125= Synonymous 1/6 - 1
7-119915062-C-A c.376C>A p.P126T Missense 1/6 - 4
7-119915063-C-G c.377C>G p.P126R Missense 1/6 - 1
7-119915063-C-T c.377C>T p.P126L Missense 1/6 - 2
7-119915064-G-A c.378G>A p.P126= Synonymous 1/6 - 4
7-119915065-G-A c.379G>A p.E127K Missense 1/6 - 1
7-119915071-A-G c.385A>G p.I129V Missense 1/6 - 1
7-119915073-C-T c.387C>T p.I129= Synonymous 1/6 - 1
7-119915075-G-A c.389G>A p.G130D Missense 1/6 - 1
7-119915076-C-A c.390C>A p.G130= Synonymous 1/6 - 1
7-119915076-C-G c.390C>G p.G130= Synonymous 1/6 - 1
7-119915076-C-T c.390C>T p.G130= Synonymous 1/6 - 1
7-119915077-G-A c.391G>A p.D131N Missense 1/6 - 1
7-119915080-TG-GC c.394_395delinsGC p.C132A Missense 1/6 - 1
7-119915082-C-T c.396C>T p.C132= Synonymous 1/6 - 1
7-119915083-TG-GC c.397_398delinsGC p.C133A Missense 1/6 - 1
7-119915086-TAT-GAG c.400_402delinsGAG p.Y134E Missense 1/6 - 1
7-119915089-G-A c.403G>A p.E135K Missense 1/6 - 1
7-119915090-A-G c.404A>G p.E135G Missense 1/6 - 1
7-119915092-G-A c.406G>A p.E136K Missense 1/6 - 3
7-119915092-G-T c.406G>T p.E136* Nonsense 1/6 - 1
7-119915093-A-G c.407A>G p.E136G Missense 1/6 - 3
7-119915095-T-A c.409T>A p.Y137N Missense 1/6 - 1
7-119915096-A-G c.410A>G p.Y137C Missense 1/6 - 1
7-119915099-A-G c.413A>G p.K138R Missense 1/6 - 1
7-119915101-G-A c.415G>A p.D139N Missense 1/6 - 2
7-119915103-T-A c.417T>A p.D139E Missense 1/6 - 1
7-119915103-T-G c.417T>G p.D139E Missense 1/6 - 1
7-119915104-C-G c.418C>G p.R140G Missense 1/6 - 1
7-119915104-C-T c.418C>T p.R140C Missense 1/6 - 3
7-119915105-G-A c.419G>A p.R140H Missense 1/6 - 5
7-119915105-G-T c.419G>T p.R140L Missense 1/6 - 2
7-119915107-A-T c.421A>T p.R141W Missense 1/6 - 1
7-119915108-G-T c.422G>T p.R141M Missense 1/6 - 1
7-119915109-G-C c.423G>C p.R141S Missense 1/6 - 2
7-119915109-G-T c.423G>T p.R141S Missense 1/6 - 1
7-119915110-C-T c.424C>T p.R142* Nonsense 1/6 - 1
7-119915111-G-A c.425G>A p.R142Q Missense 1/6 - 2
7-119915114-A-C c.428A>C p.E143A Missense 1/6 - 1
7-119915115-G-A c.429G>A p.E143= Synonymous 1/6 - 3
7-119915118-C-A c.432C>A p.N144K Missense 1/6 - 1
7-119915118-C-G c.432C>G p.N144K Missense 1/6 - 1
7-119915119-G-T c.433G>T p.A145S Missense 1/6 - 5
7-119915121-C-T c.435C>T p.A145= Synonymous 1/6 - 1
7-119915122-G-A c.436G>A p.E146K Missense 1/6 - 3
7-119915122-G-T c.436G>T p.E146* Nonsense 1/6 - 3
7-119915125-C-G c.439C>G p.R147G Missense 1/6 - 1
7-119915126-G-A c.440G>A p.R147H Missense 1/6 - 5
7-119915126-G-T c.440G>T p.R147L Missense 1/6 - 1
7-119915127-C-G c.441C>G p.R147= Synonymous 1/6 - 1
7-119915129-T-A c.443T>A p.L148Q Missense 1/6 - 2
7-119915133-G-T c.447G>T p.Q149H Missense 1/6 - 1
7-119915135-A-G c.449A>G p.D150G Missense 1/6 - 1
7-119915136-C-T c.450C>T p.D150= Synonymous 1/6 - 3
7-119915137-G-A c.451G>A p.D151N Missense 1/6 - 1
7-119915139-C-T c.453C>T p.D151= Synonymous 1/6 - 2
7-119915140-G-A c.454G>A p.A152T Missense 1/6 - 6
7-119915140-G-C c.454G>C p.A152P Missense 1/6 - 1
7-119915140-G-T c.454G>T p.A152S Missense 1/6 - 3
7-119915141-C-A c.455C>A p.A152E Missense 1/6 - 2
7-119915141-C-T c.455C>T p.A152V Missense 1/6 - 4
7-119915142-G-A c.456G>A p.A152= Synonymous 1/6 - 3
7-119915142-G-C c.456G>C p.A152= Synonymous 1/6 - 1
7-119915142-G-T c.456G>T p.A152= Synonymous 1/6 - 3
7-119915143-G-A c.457G>A p.D153N Missense 1/6 - 6
7-119915147-C-T c.461C>T p.T154I Missense 1/6 - 5
7-119915148-C-A c.462C>A p.T154= Synonymous 1/6 - 3
7-119915148-C-G c.462C>G p.T154= Synonymous 1/6 - 2
7-119915148-C-T c.462C>T p.T154= Synonymous 1/6 - 2
7-119915151-C-A c.465C>A p.D155E Missense 1/6 - 2
7-119915151-C-G c.465C>G p.D155E Missense 1/6 - 2
7-119915153-C-T c.467C>T p.T156I Missense 1/6 - 3
7-119915154-C-A c.468C>A p.T156= Synonymous 1/6 - 1
7-119915154-C-G c.468C>G p.T156= Synonymous 1/6 - 1
7-119915154-C-T c.468C>T p.T156= Synonymous 1/6 - 2
7-119915155-G-A c.469G>A p.A157T Missense 1/6 - 5
7-119915158-G-T c.472G>T p.G158W Missense 1/6 - 2
7-119915159-G-T c.473G>T p.G158V Missense 1/6 - 4
7-119915161-G-A c.475G>A p.E159K Missense 1/6 - 4
7-119915162-A-T c.476A>T p.E159V Missense 1/6 - 2
7-119915162-GA-G c.476del p.E159Gfs*7 Frameshift 1/6 - 1
7-119915164-A-C c.478A>C p.S160R Missense 1/6 - 2
7-119915166-C-A c.480C>A p.S160R Missense 1/6 - 1
7-119915166-C-G c.480C>G p.S160R Missense 1/6 - 1
7-119915167-G-A c.481G>A p.A161T Missense 1/6 - 1
7-119915167-G-C c.481G>C p.A161P Missense 1/6 - 2
7-119915169-C-A c.483C>A p.A161= Synonymous 1/6 - 2
7-119915169-C-G c.483C>G p.A161= Synonymous 1/6 - 1
7-119915169-C-T c.483C>T p.A161= Synonymous 1/6 - 1
7-119915176-A-G c.490A>G p.T164A Missense 1/6 - 3
7-119915177-C-T c.491C>T p.T164I Missense 1/6 - 2
7-119915186-C-T c.500C>T p.A167V Missense 1/6 - 3
7-119915188-AG-TA c.502_503delinsTA p.R168* Nonsense 1/6 - 1
7-119915193-G-C c.507G>C p.Q169H Missense 1/6 - 4
7-119915193-G-T c.507G>T p.Q169H Missense 1/6 - 2
7-119915195-G-A c.509G>A p.R170K Missense 1/6 - 4
7-119915197-G-A c.511G>A p.V171I Missense 1/6 - 1
7-119915200-TG-GC c.514_515delinsGC p.W172A Missense 1/6 - 1
7-119915204-G-A c.518G>A p.R173K Missense 1/6 - 1
7-119915209-T-A c.523T>A p.F175I Missense 1/6 - 1
7-119915211-C-T c.525C>T p.F175= Synonymous 1/6 - 4
7-119915212-G-A c.526G>A p.E176K Missense 1/6 - 5
7-119915214-G-C c.528G>C p.E176D Missense 1/6 - 1
7-119915214-G-T c.528G>T p.E176D Missense 1/6 - 1
7-119915224-A-G c.538A>G p.T180A Missense 1/6 - 3
7-119915227-AG-TT c.541_542delinsTT p.S181F Missense 1/6 - 1
7-119915227-A-T c.541A>T p.S181C Missense 1/6 - 1
7-119915228-G-A c.542G>A p.S181N Missense 1/6 - 1
7-119915228-G-C c.542G>C p.S181T Missense 1/6 - 1
7-119915227-A-C c.541A>C p.S181R Missense 1/6 - 1
7-119915229-C-A c.543C>A p.S181R Missense 1/6 - 1
7-119915229-C-G c.543C>G p.S181R Missense 1/6 - 1
7-119915230-AC-TG c.544_545delinsTG p.T182W Missense 1/6 - 1
7-119915231-C-T c.545C>T p.T182M Missense 1/6 - 4
7-119915232-G-A c.546G>A p.T182= Synonymous 1/6 - 3
7-119915236-G-A c.550G>A p.A184T Missense 1/6 - 1
7-119915238-C-A c.552C>A p.A184= Synonymous 1/6 - 1
7-119915241-G-T c.555G>T p.L185= Synonymous 1/6 - 1
7-119915242-GT-TG c.556_557delinsTG p.V186W Missense 1/6 - 1
7-119915245-T-C c.559T>C p.F187L Missense 1/6 - 4
7-119915245-TT-GC c.559_560delinsGC p.F187A Missense 1/6 - 1
7-119915247-C-A c.561C>A p.F187L Missense 1/6 - 1
7-119915247-C-G c.561C>G p.F187L Missense 1/6 - 1
7-119915249-A-C c.563A>C p.Y188S Missense 1/6 - 1
7-119915250-C-T c.564C>T p.Y188= Synonymous 1/6 - 3
7-119915252-A-G c.566A>G p.Y189C Missense 1/6 - 2
7-119915254-G-A c.568G>A p.V190I Missense 1/6 - 1
7-119915254-GTC-TGG c.568_570delinsTGG p.V190W Missense 1/6 - 1
7-119915255-T-C c.569T>C p.V190A Missense 1/6 - 2
7-119915256-C-A c.570C>A p.V190= Synonymous 1/6 - 1
7-119915256-C-G c.570C>G p.V190= Synonymous 1/6 - 1
7-119915256-C-T c.570C>T p.V190= Synonymous 1/6 - 1
7-119915258-C-T c.572C>T p.T191M Missense 1/6 - 3
7-119915259-G-A c.573G>A p.T191= Synonymous 1/6 - 3
7-119915260-G-A c.574G>A p.G192R Missense 1/6 - 2
7-119915260-G-T c.574G>T p.G192W Missense 1/6 - 2
7-119915261-G-T c.575G>T p.G192V Missense 1/6 - 2
7-119915262-G-A c.576G>A p.G192= Synonymous 1/6 - 1
7-119915262-G-C c.576G>C p.G192= Synonymous 1/6 - 1
7-119915262-G-T c.576G>T p.G192= Synonymous 1/6 - 2
7-119915263-T-G c.577T>G p.F193V Missense 1/6 - 2
7-119915264-T-C c.578T>C p.F193S Missense 1/6 - 1
7-119915266-T-G c.580T>G p.F194V Missense 1/6 - 1
7-119915267-TC-GG c.581_582delinsGG p.F194W Missense 1/6 - 1
7-119915272-G-C c.586G>C p.A196P Missense 1/6 - 1
7-119915274-C-A c.588C>A p.A196= Synonymous 1/6 - 4
7-119915274-C-G c.588C>G p.A196= Synonymous 1/6 - 3
7-119915274-C-T c.588C>T p.A196= Synonymous 1/6 - 4
7-119915275-G-A c.589G>A p.V197I Missense 1/6 - 2
7-119915277-C-A c.591C>A p.V197= Synonymous 1/6 - 1
7-119915277-C-G c.591C>G p.V197= Synonymous 1/6 - 1
7-119915277-C-T c.591C>T p.V197= Synonymous 1/6 - 1
7-119915280-T-A c.594T>A p.S198= Synonymous 1/6 - 1
7-119915281-G-A c.595G>A p.V199I Missense 1/6 - 1
7-119915286-C-T c.600C>T p.I200= Synonymous 1/6 - 2
7-119915287-G-A c.601G>A p.A201T Missense 1/6 - 7
7-119915287-G-T c.601G>T p.A201S Missense 1/6 - 1
7-119915288-C-T c.602C>T p.A201V Missense 1/6 - 2
7-119915289-G-A c.603G>A p.A201= Synonymous 1/6 - 2
7-119915291-A-T c.605A>T p.N202I Missense 1/6 - 2
7-119915292-T-A c.606T>A p.N202K Missense 1/6 - 2
7-119915292-T-G c.606T>G p.N202K Missense 1/6 - 1
7-119915293-G-A c.607G>A p.V203M Missense 1/6 - 1
7-119915298-G-A c.612G>A p.V204= Synonymous 1/6 - 1
7-119915299-G-A c.613G>A p.E205K Missense 1/6 - 2
7-119915301-A-C c.615A>C p.E205D Missense 1/6 - 1
7-119915304-A-C c.618A>C p.T206= Synonymous 1/6 - 1
7-119915304-A-G c.618A>G p.T206= Synonymous 1/6 - 2
7-119915304-A-T c.618A>T p.T206= Synonymous 1/6 - 1
7-119915308-C-T c.622C>T p.P208S Missense 1/6 - 2
7-119915309-C-A c.623C>A p.P208Q Missense 1/6 - 2
7-119915309-C-T c.623C>T p.P208L Missense 1/6 - 2
7-119915310-G-A c.624G>A p.P208= Synonymous 1/6 - 2
7-119915310-G-C c.624G>C p.P208= Synonymous 1/6 - 1
7-119915310-G-T c.624G>T p.P208= Synonymous 1/6 - 1
7-119915311-T-A c.625T>A p.C209S Missense 1/6 - 1
7-119915311-TG-GC c.625_626delinsGC p.C209A Missense 1/6 - 1
7-119915314-G-A c.628G>A p.G210R Missense 1/6 - 5
7-119915314-G-C c.628G>C p.G210R Missense 1/6 - 3
7-119915317-T-A c.631T>A p.S211T Missense 1/6 - 3
7-119915318-C-G c.632C>G p.S211* Nonsense 1/6 - 1
7-119915318-C-T c.632C>T p.S211L Missense 1/6 - 2
7-119915320-A-C c.634A>C p.S212R Missense 1/6 - 1
7-119915322-C-A c.636C>A p.S212R Missense 1/6 - 1
7-119915322-C-G c.636C>G p.S212R Missense 1/6 - 1
7-119915323-C-A c.637C>A p.P213T Missense 1/6 - 1
7-119915329-C-A c.643C>A p.H215N Missense 1/6 - 1
7-119915331-C-G c.645C>G p.H215Q Missense 1/6 - 1
7-119915331-C-T c.645C>T p.H215= Synonymous 1/6 - 1
7-119915332-A-G c.646A>G p.I216V Missense 1/6 - 1
7-119915334-T-G c.648T>G p.I216M Missense 1/6 - 1
7-119915335-A-G c.649A>G p.K217E Missense 1/6 - 2
7-119915335-TAAA-T c.649_651del p.K217del InFrameDeletion 1/6 - 2
7-119915337-A-C c.651A>C p.K217N Missense 1/6 - 1
7-119915337-A-T c.651A>T p.K217N Missense 1/6 - 1
7-119915338-G-T c.652G>T p.E218* Nonsense 1/6 - 1
7-119915341-C-T c.655C>T p.L219= Synonymous 1/6 - 1
7-119915343-G-T c.657G>T p.L219= Synonymous 1/6 - 1
7-119915346-C-T c.660C>T p.P220= Synonymous 1/6 - 3
7-119915347-TG-GC c.661_662delinsGC p.C221A Missense 1/6 - 1
7-119915348-G-T c.662G>T p.C221F Missense 1/6 - 1
7-119915351-G-A c.665G>A p.G222E Missense 1/6 - 2
7-119915351-G-C c.665G>C p.G222A Missense 1/6 - 1
7-119915354-A-T c.668A>T p.E223V Missense 1/6 - 1
7-119915355-G-C c.669G>C p.E223D Missense 1/6 - 2
7-119915355-G-T c.669G>T p.E223D Missense 1/6 - 3
7-119915356-C-A c.670C>A p.R224= Synonymous 1/6 - 1
7-119915356-CG-TA c.670_671delinsTA p.R224* Nonsense 1/6 - 1
7-119915356-C-T c.670C>T p.R224W Missense 1/6 - 5
7-119915358-G-A c.672G>A p.R224= Synonymous 1/6 - 1
7-119915358-G-C c.672G>C p.R224= Synonymous 1/6 - 1
7-119915358-G-T c.672G>T p.R224= Synonymous 1/6 - 1
7-119915360-A-G c.674A>G p.Y225C Missense 1/6 - 7
7-119915363-C-T c.677C>T p.A226V Missense 1/6 - 4
7-119915363-CTG-C c.680_681del p.V227Gfs*16 Frameshift 1/6 - 1
7-119915368-GCC-TGG c.682_684delinsTGG p.A228W Missense 1/6 - 1
7-119915370-C-T c.684C>T p.A228= Synonymous 1/6 - 4
7-119915373-C-T c.687C>T p.F229= Synonymous 1/6 - 2
7-119915374-T-C c.688T>C p.F230L Missense 1/6 - 3
7-119915374-T-G c.688T>G p.F230V Missense 1/6 - 1
7-119915369-CCTT-C c.689_691del p.F230del InFrameDeletion 1/6 - 1
7-119915377-T-C c.691T>C p.C231R Missense 1/6 - 1
7-119915377-TG-GC c.691_692delinsGC p.C231A Missense 1/6 - 1
7-119915379-C-A c.693C>A p.C231* Nonsense 1/6 - 1
7-119915379-C-G c.693C>G p.C231W Missense 1/6 - 1
7-119915382-G-A c.696G>A p.L232= Synonymous 1/6 - 2
7-119915383-G-A c.697G>A p.D233N Missense 1/6 - 3
7-119915384-A-G c.698A>G p.D233G Missense 1/6 - 1
7-119915385-C-T c.699C>T p.D233= Synonymous 1/6 - 1
7-119915386-A-G c.700A>G p.T234A Missense 1/6 - 1
7-119915387-C-T c.701C>T p.T234M Missense 1/6 - 5
7-119915388-G-A c.702G>A p.T234= Synonymous 1/6 - 3
7-119915388-G-C c.702G>C p.T234= Synonymous 1/6 - 2
7-119915388-G-T c.702G>T p.T234= Synonymous 1/6 - 3
7-119915389-GCC-TGG c.703_705delinsTGG p.A235W Missense 1/6 - 1
7-119915389-G-T c.703G>T p.A235S Missense 1/6 - 1
7-119915390-C-G c.704C>G p.A235G Missense 1/6 - 1
7-119915392-TG-GC c.706_707delinsGC p.C236A Missense 1/6 - 1
7-119915394-C-A c.708C>A p.C236* Nonsense 1/6 - 3
7-119915394-C-T c.708C>T p.C236= Synonymous 1/6 - 6
7-119915395-G-A c.709G>A p.V237I Missense 1/6 - 2
7-119915396-T-C c.710T>C p.V237A Missense 1/6 - 1
7-119915400-G-A c.714G>A p.M238I Missense 1/6 - 8
7-119915400-G-C c.714G>C p.M238I Missense 1/6 - 2
7-119915400-G-T c.714G>T p.M238I Missense 1/6 - 5
7-119915409-A-G c.723A>G p.T241= Synonymous 1/6 - 2
7-119915413-G-T c.727G>T p.E243* Nonsense 1/6 - 1
7-119915414-A-T c.728A>T p.E243V Missense 1/6 - 1
7-119915416-T-C c.730T>C p.Y244H Missense 1/6 - 1
7-119915418-T-C c.732T>C p.Y244= Synonymous 1/6 - 1
7-119915425-C-T c.739C>T p.R247C Missense 1/6 - 9
7-119915426-G-A c.740G>A p.R247H Missense 1/6 - 5
7-119915428-C-A c.742C>A p.L248M Missense 1/6 - 1
7-119915428-C-T c.742C>T p.L248= Synonymous 1/6 - 1
7-119915430-G-A c.744G>A p.L248= Synonymous 1/6 - 1
7-119915430-G-C c.744G>C p.L248= Synonymous 1/6 - 1
7-119915430-G-T c.744G>T p.L248= Synonymous 1/6 - 1
7-119915431-G-T c.745G>T p.A249S Missense 1/6 - 3
7-119915432-C-A c.746C>A p.A249D Missense 1/6 - 1
7-119915432-C-T c.746C>T p.A249V Missense 1/6 - 3
7-119915437-G-A c.751G>A p.A251T Missense 1/6 - 1
7-119915437-G-T c.751G>T p.A251S Missense 1/6 - 2
7-119915438-C-G c.752C>G p.A251G Missense 1/6 - 1
7-119915438-C-T c.752C>T p.A251V Missense 1/6 - 1
7-119915439-G-A c.753G>A p.A251= Synonymous 1/6 - 10
7-119915439-G-C c.753G>C p.A251= Synonymous 1/6 - 5
7-119915439-G-T c.753G>T p.A251= Synonymous 1/6 - 5
7-119915440-C-T c.754C>T p.P252S Missense 1/6 - 2
7-119915441-C-A c.755C>A p.P252H Missense 1/6 - 1
7-119915441-C-T c.755C>T p.P252L Missense 1/6 - 1
7-119915443-AG-TT c.757_758delinsTT p.S253F Missense 1/6 - 1
7-119915446-C-T c.760C>T p.R254C Missense 1/6 - 2
7-119915447-G-A c.761G>A p.R254H Missense 1/6 - 5
7-119915453-G-C c.767G>C p.R256P Missense 1/6 - 1
7-119915453-GT-AA c.767_768delinsAA p.R256Q Missense 1/6 - 1
7-119915454-T-A c.768T>A p.R256= Synonymous 1/6 - 1
7-119915461-C-T c.775C>T p.R259C Missense 1/6 - 3
7-119915462-G-A c.776G>A p.R259H Missense 1/6 - 5
7-119915462-GT-AA c.776_777delinsAA p.R259Q Missense 1/6 - 1
7-119915465-G-A c.779G>A p.S260N Missense 1/6 - 1
7-119915464-A-C c.778A>C p.S260R Missense 1/6 - 1
7-119915466-T-A c.780T>A p.S260R Missense 1/6 - 2
7-119915466-T-G c.780T>G p.S260R Missense 1/6 - 1
7-119915467-G-A c.781G>A p.V261I Missense 1/6 - 1
7-119915467-G-T c.781G>T p.V261F Missense 1/6 - 1
7-119915467-GT-AC c.781_782inv p.V261T Missense 1/6 - 1
7-119915467-GTC-ATG c.781_783delinsATG p.V261M Missense 1/6 - 2
7-119915472-G-A c.786G>A p.M262I Missense 1/6 - 3
7-119915472-G-C c.786G>C p.M262I Missense 1/6 - 5
7-119915472-G-T c.786G>T p.M262I Missense 1/6 - 3
7-119915475-T-C c.789T>C p.S263= Synonymous 1/6 - 1
7-119915481-C-T c.795C>T p.I265= Synonymous 1/6 - 3
7-119915482-G-A c.796G>A p.D266N Missense 1/6 - 7
7-119915484-C-A c.798C>A p.D266E Missense 1/6 - 4
7-119915484-C-G c.798C>G p.D266E Missense 1/6 - 2
7-119915484-C-T c.798C>T p.D266= Synonymous 1/6 - 1
7-119915485-G-A c.799G>A p.V267M Missense 1/6 - 4
7-119915485-G-C c.799G>C p.V267L Missense 1/6 - 1
7-119915485-G-T c.799G>T p.V267L Missense 1/6 - 1
7-119915488-G-T c.802G>T p.V268L Missense 1/6 - 1
7-119915491-G-T c.805G>T p.A269S Missense 1/6 - 2
7-119915492-C-A c.806C>A p.A269D Missense 1/6 - 1
7-119915493-C-A c.807C>A p.A269= Synonymous 1/6 - 1
7-119915497-C-A c.811C>A p.L271M Missense 1/6 - 1
7-119915497-C-T c.811C>T p.L271= Synonymous 1/6 - 2
7-119915499-G-A c.813G>A p.L271= Synonymous 1/6 - 2
7-119915499-G-C c.813G>C p.L271= Synonymous 1/6 - 2
7-119915499-G-T c.813G>T p.L271= Synonymous 1/6 - 3
7-119915501-C-T c.815C>T p.P272L Missense 1/6 - 1
7-119915504-A-T c.818A>T p.Y273F Missense 1/6 - 1
7-119915506-T-A c.820T>A p.Y274N Missense 1/6 - 1
7-119915508-C-A c.822C>A p.Y274* Nonsense 1/6 - 1
7-119915509-AT-GC c.823_824delinsGC p.I275A Missense 1/6 - 1
7-119915513-G-A c.827G>A p.G276E Missense 1/6 - 1
7-119915515-C-G c.829C>G p.L277V Missense 1/6 - 1
7-119915515-CT-GC c.829_830delinsGC p.L277A Missense 1/6 - 1
7-119915517-G-C c.831G>C p.L277= Synonymous 1/6 - 1
7-119915522-T-C c.836T>C p.M279T Missense 1/6 - 1
7-119915524-A-C c.838A>C p.T280P Missense 1/6 - 1
7-119915524-A-G c.838A>G p.T280A Missense 1/6 - 2
7-119915527-G-T c.841G>T p.D281Y Missense 1/6 - 1
7-119915529-C-A c.843C>A p.D281E Missense 1/6 - 1
7-119915529-C-G c.843C>G p.D281E Missense 1/6 - 1
7-119915529-C-T c.843C>T p.D281= Synonymous 1/6 - 4
7-119915530-A-C c.844A>C p.N282H Missense 1/6 - 3
7-119915535-G-A c.849G>A p.E283= Synonymous 1/6 - 1
7-119915536-G-A c.850G>A p.D284N Missense 1/6 - 5
7-119915538-C-A c.852C>A p.D284E Missense 1/6 - 1
7-119915538-C-T c.852C>T p.D284= Synonymous 1/6 - 3
7-119915539-G-A c.853G>A p.V285I Missense 1/6 - 3
7-119915540-T-C c.854T>C p.V285A Missense 1/6 - 1
7-119915541-C-G c.855C>G p.V285= Synonymous 1/6 - 1
7-119915545-G-T c.859G>T p.G287* Nonsense 1/6 - 1
7-119915546-G-A c.860G>A p.G287E Missense 1/6 - 4
7-119915550-C-G c.864C>G p.A288= Synonymous 1/6 - 2
7-119915551-TT-GC c.865_866delinsGC p.F289A Missense 1/6 - 1
7-119915554-G-T c.868G>T p.V290F Missense 1/6 - 2
7-119915555-T-C c.869T>C p.V290A Missense 1/6 - 1
7-119915556-C-A c.870C>A p.V290= Synonymous 1/6 - 2
7-119915556-C-G c.870C>G p.V290= Synonymous 1/6 - 1
7-119915556-C-T c.870C>T p.V290= Synonymous 1/6 - 1
7-119915562-C-A c.876C>A p.L292= Synonymous 1/6 - 1
7-119915562-C-G c.876C>G p.L292= Synonymous 1/6 - 1
7-119915562-C-T c.876C>T p.L292= Synonymous 1/6 - 2
7-119915563-C-T c.877C>T p.R293* Nonsense 1/6 - 3
7-119915564-G-A c.878G>A p.R293Q Missense 1/6 - 2
7-119915564-G-T c.878G>T p.R293L Missense 1/6 - 2
7-119915568-C-G c.882C>G p.V294= Synonymous 1/6 - 1
7-119915571-C-A c.885C>A p.F295L Missense 1/6 - 1
7-119915571-C-T c.885C>T p.F295= Synonymous 1/6 - 6
7-119915572-CGG-TGT c.886_888delinsTGT p.R296C Missense 1/6 - 1
7-119915572-C-T c.886C>T p.R296W Missense 1/6 - 6
7-119915573-G-T c.887G>T p.R296L Missense 1/6 - 1
7-119915575-G-A c.889G>A p.V297I Missense 1/6 - 1
7-119915577-C-A c.891C>A p.V297= Synonymous 1/6 - 1
7-119915577-C-G c.891C>G p.V297= Synonymous 1/6 - 1
7-119915577-C-T c.891C>T p.V297= Synonymous 1/6 - 1
7-119915580-C-T c.894C>T p.F298= Synonymous 1/6 - 1
7-119915583-G-A c.897G>A p.R299= Synonymous 1/6 - 2
7-119915589-T-C c.903T>C p.F301= Synonymous 1/6 - 2
7-119915591-A-C c.905A>C p.K302T Missense 1/6 - 1
7-119915592-G-C c.906G>C p.K302N Missense 1/6 - 1
7-119915592-G-T c.906G>T p.K302N Missense 1/6 - 1
7-119915594-T-C c.908T>C p.F303S Missense 1/6 - 1
7-119915597-C-T c.911C>T p.S304F Missense 1/6 - 6
7-119915598-C-A c.912C>A p.S304= Synonymous 1/6 - 2
7-119915598-C-G c.912C>G p.S304= Synonymous 1/6 - 1
7-119915598-C-T c.912C>T p.S304= Synonymous 1/6 - 2
7-119915596-T-TC c.913dup p.R305Pfs*48 Frameshift 1/6 - 2
7-119915599-C-T c.913C>T p.R305C Missense 1/6 - 4
7-119915600-G-A c.914G>A p.R305H Missense 1/6 - 7
7-119915600-G-T c.914G>T p.R305L Missense 1/6 - 2
7-119915607-T-A c.921T>A p.S307= Synonymous 1/6 - 1
7-119915612-G-C c.926G>C p.G309A Missense 1/6 - 2
7-119915612-G-T c.926G>T p.G309V Missense 1/6 - 9
7-119915614-CT-GC c.928_929delinsGC p.L310A Missense 1/6 - 1
7-119915615-T-A c.929T>A p.L310Q Missense 1/6 - 2
7-119915617-C-G c.931C>G p.R311G Missense 1/6 - 1
7-119915617-CG-GC c.931_932delinsGC p.R311A Missense 1/6 - 2
7-119915617-C-T c.931C>T p.R311C Missense 1/6 - 1
7-119915618-G-A c.932G>A p.R311H Missense 1/6 - 6
7-119915618-GC-AA c.932_933delinsAA p.R311Q Missense 1/6 - 1
7-119915620-A-T c.934A>T p.I312F Missense 1/6 - 1
7-119915620-AT-GC c.934_935delinsGC p.I312A Missense 1/6 - 1
7-119915622-C-T c.936C>T p.I312= Synonymous 1/6 - 3
7-119915623-CT-GC c.937_938delinsGC p.L313A Missense 1/6 - 2
7-119915623-CTG-TTT c.937_939delinsTTT p.L313F Missense 1/6 - 1
7-119915623-C-T c.937C>T p.L313= Synonymous 1/6 - 1
7-119915625-G-A c.939G>A p.L313= Synonymous 1/6 - 2
7-119915625-G-C c.939G>C p.L313= Synonymous 1/6 - 1
7-119915625-G-T c.939G>T p.L313= Synonymous 1/6 - 1
7-119915626-GGG-TTT c.940_942delinsTTT p.G314F Missense 1/6 - 1
7-119915627-G-C c.941G>C p.G314A Missense 1/6 - 1
7-119915624-T-TG c.942dup p.Y315Vfs*38 Frameshift 1/6 - 2
7-119915628-G-T c.942G>T p.G314= Synonymous 1/6 - 1
7-119915629-TA-GC c.943_944delinsGC p.Y315A Missense 1/6 - 1
7-119915629-T-C c.943T>C p.Y315H Missense 1/6 - 2
7-119915632-A-G c.946A>G p.T316A Missense 1/6 - 1
7-119915633-C-A c.947C>A p.T316K Missense 1/6 - 1
7-119915634-A-G c.948A>G p.T316= Synonymous 1/6 - 1
7-119915635-CT-GC c.949_950delinsGC p.L317A Missense 1/6 - 1
7-119915635-C-T c.949C>T p.L317= Synonymous 1/6 - 1
7-119915637-G-A c.951G>A p.L317= Synonymous 1/6 - 1
7-119915638-AA-GC c.952_953delinsGC p.K318A Missense 1/6 - 1
7-119915638-AAG-GAC c.952_954delinsGAC p.K318D Missense 1/6 - 1
7-119915638-A-C c.952A>C p.K318Q Missense 1/6 - 1
7-119915638-A-G c.952A>G p.K318E Missense 1/6 - 1
7-119915639-A-G c.953A>G p.K318R Missense 1/6 - 1
7-119915641-AG-GC c.955_956delinsGC p.S319A Missense 1/6 - 1
7-119915642-G-A c.956G>A p.S319N Missense 1/6 - 2
7-119915644-T-A c.958T>A p.C320S Missense 1/6 - 1
7-119915644-TG-GC c.958_959delinsGC p.C320A Missense 1/6 - 3
7-119915645-G-C c.959G>C p.C320S Missense 1/6 - 1
7-119915648-C-G c.962C>G p.A321G Missense 1/6 - 3
7-119915648-C-T c.962C>T p.A321V Missense 1/6 - 1
7-119915650-T-G c.964T>G p.S322A Missense 1/6 - 2
7-119915653-G-A c.967G>A p.E323K Missense 1/6 - 3
7-119915653-GAA-TGT c.967_969delinsTGT p.E323C Missense 1/6 - 3
7-119915653-G-T c.967G>T p.E323* Nonsense 1/6 - 6
7-119915654-A-C c.968A>C p.E323A Missense 1/6 - 2
7-119915655-A-C c.969A>C p.E323D Missense 1/6 - 1
7-119915655-A-T c.969A>T p.E323D Missense 1/6 - 1
7-119915656-T-C c.970T>C p.L324= Synonymous 1/6 - 1
7-119915656-TT-GC c.970_971delinsGC p.L324A Missense 1/6 - 1
7-119915658-G-A c.972G>A p.L324= Synonymous 1/6 - 2
7-119915658-G-C c.972G>C p.L324F Missense 1/6 - 1
7-119915660-G-C c.974G>C p.G325A Missense 1/6 - 1
7-119915662-T-C c.976T>C p.F326L Missense 1/6 - 2
7-119915662-TT-GC c.976_977delinsGC p.F326A Missense 1/6 - 2
7-119915664-C-G c.978C>G p.F326L Missense 1/6 - 2
7-119915664-C-A c.978C>A p.F326L Missense 1/6 - 3
7-119915665-TTG-ATC c.979_981delinsATC p.L327I Missense 1/6 - 1
7-119915665-TT-GC c.979_980delinsGC p.L327A Missense 1/6 - 1
7-119915666-TG-GT c.980_981delinsGT p.L327C Missense 1/6 - 1
7-119915668-CT-GC c.982_983delinsGC p.L328A Missense 1/6 - 1
7-119915671-TT-GC c.985_986delinsGC p.F329A Missense 1/6 - 1
7-119915673-C-A c.987C>A p.F329L Missense 1/6 - 1
7-119915674-TCG-GAC c.988_990delinsGAC p.S330D Missense 1/6 - 1
7-119915674-T-G c.988T>G p.S330A Missense 1/6 - 1
7-119915675-C-T c.989C>T p.S330L Missense 1/6 - 3
7-119915678-TC-AA c.992_993delinsAA p.L331Q Missense 1/6 - 1
7-119915681-C-T c.995C>T p.T332I Missense 1/6 - 3
7-119915682-C-A c.996C>A p.T332= Synonymous 1/6 - 1
7-119915682-C-G c.996C>G p.T332= Synonymous 1/6 - 1
7-119915682-C-T c.996C>T p.T332= Synonymous 1/6 - 1
7-119915684-T-A c.998T>A p.M333K Missense 1/6 - 1
7-119915685-G-A c.999G>A p.M333I Missense 1/6 - 1
7-119915685-G-C c.999G>C p.M333I Missense 1/6 - 1
7-119915685-G-T c.999G>T p.M333I Missense 1/6 - 1
7-119915691-C-T c.1005C>T p.I335= Synonymous 1/6 - 2
7-119915694-C-T c.1008C>T p.I336= Synonymous 1/6 - 2
7-119915695-A-G c.1009A>G p.I337V Missense 1/6 - 1
7-119915700-C-T c.1014C>T p.F338= Synonymous 1/6 - 5
7-119915701-G-A c.1015G>A p.A339T Missense 1/6 - 3
7-119915703-T-A c.1017T>A p.A339= Synonymous 1/6 - 1
7-119915703-T-C c.1017T>C p.A339= Synonymous 1/6 - 1
7-119915703-T-G c.1017T>G p.A339= Synonymous 1/6 - 1
7-119915718-C-A c.1032C>A p.Y344* Nonsense 1/6 - 1
7-119915718-C-T c.1032C>T p.Y344= Synonymous 1/6 - 3
7-119915719-G-A c.1033G>A p.A345T Missense 1/6 - 4
7-119915720-C-CA c.1035dup p.E346Rfs*7 Frameshift 1/6 - 1
7-119915722-G-C c.1036G>C p.E346Q Missense 1/6 - 1
7-119915722-G-T c.1036G>T p.E346* Nonsense 1/6 - 3
7-119915724-G-C c.1038G>C p.E346D Missense 1/6 - 3
7-119915724-G-T c.1038G>T p.E346D Missense 1/6 - 3
7-119915725-AA-GC c.1039_1040delinsGC p.K347A Missense 1/6 - 1
7-119915726-A-T c.1040A>T p.K347M Missense 1/6 - 2
7-119915728-G-A c.1042G>A p.G348R Missense 1/6 - 7
7-119915728-G-C c.1042G>C p.G348R Missense 1/6 - 2
7-119915729-G-T c.1043G>T p.G348V Missense 1/6 - 2
7-119915732-C-A c.1046C>A p.S349Y Missense 1/6 - 1
7-119915732-C-T c.1046C>T p.S349F Missense 1/6 - 4
7-119915733-T-A c.1047T>A p.S349= Synonymous 1/6 - 1
7-119915733-T-C c.1047T>C p.S349= Synonymous 1/6 - 1
7-119915733-T-G c.1047T>G p.S349= Synonymous 1/6 - 1
7-119915735-C-T c.1049C>T p.S350L Missense 1/6 - 9
7-119915736-G-A c.1050G>A p.S350= Synonymous 1/6 - 2
7-119915736-G-C c.1050G>C p.S350= Synonymous 1/6 - 1
7-119915736-G-T c.1050G>T p.S350= Synonymous 1/6 - 1
7-119915738-C-T c.1052C>T p.A351V Missense 1/6 - 1
7-119915740-AG-TA c.1054_1055delinsTA p.S352Y Missense 1/6 - 1
7-119915740-AG-TT c.1054_1055delinsTT p.S352F Missense 1/6 - 1
7-119915741-G-C c.1055G>C p.S352T Missense 1/6 - 2
7-119915743-AA-GG c.1057_1058delinsGG p.K353G Missense 1/6 - 1
7-119915745-G-T c.1059G>T p.K353N Missense 1/6 - 1
7-119915752-AG-GA c.1066_1067delinsGA p.S356D Missense 1/6 - 1
7-119915752-AG-GC c.1066_1067delinsGC p.S356A Missense 1/6 - 1
7-119915758-C-G c.1072C>G p.P358A Missense 1/6 - 1
7-119915758-C-T c.1072C>T p.P358S Missense 1/6 - 2
7-119915759-C-T c.1073C>T p.P358L Missense 1/6 - 1
7-119915761-G-C c.1075G>C p.A359P Missense 1/6 - 1
7-119915761-GC-AG c.1075_1076delinsAG p.A359R Missense 1/6 - 1
7-119915761-GCA-TGT c.1075_1077delinsTGT p.A359C Missense 1/6 - 2
7-119915761-G-T c.1075G>T p.A359S Missense 1/6 - 1
7-119915762-CA-AC c.1076_1077delinsAC p.A359D Missense 1/6 - 2
7-119915764-G-A c.1078G>A p.A360T Missense 1/6 - 1
7-119915766-C-A c.1080C>A p.A360= Synonymous 1/6 - 1
7-119915766-C-G c.1080C>G p.A360= Synonymous 1/6 - 1
7-119915766-C-T c.1080C>T p.A360= Synonymous 1/6 - 4
7-119915771-GG-TT c.1085_1086delinsTT p.W362F Missense 1/6 - 12
7-119915781-C-T c.1095C>T p.I365= Synonymous 1/6 - 3
7-119915782-G-A c.1096G>A p.V366I Missense 1/6 - 11
7-119915790-G-A c.1104G>A p.M368I Missense 1/6 - 1
7-119915790-G-C c.1104G>C p.M368I Missense 1/6 - 1
7-119915790-G-T c.1104G>T p.M368I Missense 1/6 - 1
7-119915797-C-T c.1111C>T p.L371= Synonymous 1/6 - 1
7-119915800-G-A c.1114G>A p.G372R Missense 1/6 - 1
7-119915800-G-T c.1114G>T p.G372W Missense 1/6 - 1
7-119915801-G-T c.1115G>T p.G372V Missense 1/6 - 1
7-119918206-T-A c.1115+2405T>A - IntronicSNV - 1/5 1
7-119919370-T-G c.1115+3569T>G - IntronicSNV - 1/5 1
7-119925029-T-C c.1115+9228T>C - IntronicSNV - 1/5 1
7-119928625-G-T c.1115+12824G>T - IntronicSNV - 1/5 1
7-119933847-A-G c.1115+18046A>G - IntronicSNV - 1/5 1
7-119935433-C-A c.1115+19632C>A - IntronicSNV - 1/5 1
7-119935433-C-G c.1115+19632C>G - IntronicSNV - 1/5 1
7-119935433-C-T c.1115+19632C>T - IntronicSNV - 1/5 1
7-119940921-G-A c.1115+25120G>A - IntronicSNV - 1/5 1
7-119941551-GT-G c.1115+25759del - IntronicDeletion - 1/5 1
7-119943111-A-G c.1115+27310A>G - IntronicSNV - 1/5 1
7-119943791-C-T c.1115+27990C>T - IntronicSNV - 1/5 1
7-119944960-G-A c.1115+29159G>A - IntronicSNV - 1/5 1
7-119945125-G-A c.1115+29324G>A - IntronicSNV - 1/5 1
7-119947798-T-C c.1115+31997T>C - IntronicSNV - 1/5 1
7-119950477-AT-A c.1115+34684del - IntronicDeletion - 1/5 1
7-119951256-C-A c.1115+35455C>A - IntronicSNV - 1/5 1
7-119953795-A-AT c.1115+38011dup - IntronicInsertion - 1/5 1
7-119953814-T-G c.1115+38013T>G - IntronicSNV - 1/5 1
7-119954356-C-G c.1115+38555C>G - IntronicSNV - 1/5 1
7-119956907-T-G c.1115+41106T>G - IntronicSNV - 1/5 1
7-119957659-A-T c.1115+41858A>T - IntronicSNV - 1/5 1
7-119970798-A-G c.1115+54997A>G - IntronicSNV - 1/5 1
7-119971898-T-C c.1115+56097T>C - IntronicSNV - 1/5 1
7-119974550-C-T c.1115+58749C>T - IntronicSNV - 1/5 4
7-119978457-C-CT c.1115+62662dup - IntronicInsertion - 1/5 1
7-119980973-T-C c.1115+65172T>C - IntronicSNV - 1/5 1
7-119981197-C-T c.1115+65396C>T - IntronicSNV - 1/5 1
7-119983631-G-A c.1115+67830G>A - IntronicSNV - 1/5 1
7-119986400-A-C c.1115+70599A>C - IntronicSNV - 1/5 1
7-119988544-C-A c.1115+72743C>A - IntronicSNV - 1/5 1
7-119989285-G-A c.1115+73484G>A - IntronicSNV - 1/5 1
7-119990157-A-G c.1115+74356A>G - IntronicSNV - 1/5 1
7-119992933-G-T c.1115+77132G>T - IntronicSNV - 1/5 1
7-119994219-G-A c.1115+78418G>A - IntronicSNV - 1/5 1
7-119997267-C-T c.1115+81466C>T - IntronicSNV - 1/5 1
7-120000485-T-G c.1115+84684T>G - IntronicSNV - 1/5 4
7-120002948-T-C c.1115+87147T>C - IntronicSNV - 1/5 1
7-120007255-A-T c.1115+91454A>T - IntronicSNV - 1/5 1
7-120007695-CT-C c.1115+91905del - IntronicDeletion - 1/5 1
7-120008158-G-A c.1115+92357G>A - IntronicSNV - 1/5 1
7-120008163-G-A c.1115+92362G>A - IntronicSNV - 1/5 1
7-120014576-C-G c.1115+98775C>G - IntronicSNV - 1/5 1
7-120017011-C-A c.1115+101210C>A - IntronicSNV - 1/5 1
7-120017473-GATTCCTTCACT-G c.1115+101672_1115+101682del - IntronicDeletion - 1/5 1
7-120017656-A-T c.1115+101855A>T - IntronicSNV - 1/5 1
7-120018529-G-T c.1115+102728G>T - IntronicSNV - 1/5 1
7-120020613-T-A c.1115+104812T>A - IntronicSNV - 1/5 1
7-120021118-G-T c.1115+105317G>T - IntronicSNV - 1/5 1
7-120021922-G-A c.1115+106121G>A - IntronicSNV - 1/5 1
7-120023034-C-T c.1115+107233C>T - IntronicSNV - 1/5 1
7-120025556-A-G c.1115+109755A>G - IntronicSNV - 1/5 1
7-120026493-AT-A c.1115+110700del - IntronicDeletion - 1/5 1
7-120028961-C-T c.1115+113160C>T - IntronicSNV - 1/5 1
7-120029873-C-A c.1115+114072C>A - IntronicSNV - 1/5 1
7-120036540-A-G c.1115+120739A>G - IntronicSNV - 1/5 1
7-120037869-C-G c.1115+122068C>G - IntronicSNV - 1/5 1
7-120038234-C-T c.1115+122433C>T - IntronicSNV - 1/5 1
7-120041280-C-T c.1115+125479C>T - IntronicSNV - 1/5 1
7-120044033-AT-A c.1115+128241del - IntronicDeletion - 1/5 1
7-120044067-A-G c.1115+128266A>G - IntronicSNV - 1/5 1
7-120047296-GT-G c.1115+131503del - IntronicDeletion - 1/5 1
7-120056004-T-C c.1115+140203T>C - IntronicSNV - 1/5 1
7-120057284-C-G c.1115+141483C>G - IntronicSNV - 1/5 1
7-120058871-G-A c.1115+143070G>A - IntronicSNV - 1/5 1
7-120059121-A-AAT c.1115+143332_1115+143333dup - IntronicInsertion - 1/5 1
7-120059394-T-TA c.1115+143601dup - IntronicInsertion - 1/5 1
7-120062481-C-T c.1115+146680C>T - IntronicSNV - 1/5 1
7-120068254-A-C c.1115+152453A>C - IntronicSNV - 1/5 1
7-120071457-G-A c.1115+155656G>A - IntronicSNV - 1/5 1
7-120072997-G-A c.1115+157196G>A - IntronicSNV - 1/5 1
7-120073103-T-C c.1115+157302T>C - IntronicSNV - 1/5 1
7-120073222-C-T c.1115+157421C>T - IntronicSNV - 1/5 1
7-120073890-A-G c.1115+158089A>G - IntronicSNV - 1/5 1
7-120080504-T-C c.1115+164703T>C - IntronicSNV - 1/5 1
7-120081783-T-A c.1115+165982T>A - IntronicSNV - 1/5 1
7-120081783-T-C c.1115+165982T>C - IntronicSNV - 1/5 1
7-120081783-T-G c.1115+165982T>G - IntronicSNV - 1/5 1
7-120083489-T-A c.1115+167688T>A - IntronicSNV - 1/5 1
7-120083738-AT-A c.1115+167947del - IntronicDeletion - 1/5 1
7-120084324-C-A c.1115+168523C>A - IntronicSNV - 1/5 1
7-120092838-C-T c.1115+177037C>T - IntronicSNV - 1/5 1
7-120095240-T-A c.1115+179439T>A - IntronicSNV - 1/5 1
7-120095239-AT-A c.1115+179442del - IntronicDeletion - 1/5 1
7-120096711-C-T c.1115+180910C>T - IntronicSNV - 1/5 1
7-120098639-C-A c.1115+182838C>A - IntronicSNV - 1/5 1
7-120100778-C-G c.1115+184977C>G - IntronicSNV - 1/5 1
7-120102267-GT-G c.1115+186476del - IntronicDeletion - 1/5 1
7-120103802-G-A c.1115+188001G>A - IntronicSNV - 1/5 1
7-120103955-T-TGATTGATA c.1115+188157_1115+188158insTGATAGAT - IntronicInsertion - 1/5 1
7-120103955-T-TGATTGATAGATA c.1115+188157_1115+188158insTGATAGATAGAT - IntronicInsertion - 1/5 1
7-120104002-C-T c.1115+188201C>T - IntronicSNV - 1/5 2
7-120104076-T-A c.1115+188275T>A - IntronicSNV - 1/5 1
7-120104076-T-G c.1115+188275T>G - IntronicSNV - 1/5 2
7-120104232-A-C c.1115+188431A>C - IntronicSNV - 1/5 1
7-120105236-AT-A c.1115+189440del - IntronicDeletion - 1/5 1
7-120112961-G-T c.1115+197160G>T - IntronicSNV - 1/5 1
7-120116754-A-T c.1115+200953A>T - IntronicSNV - 1/5 1
7-120117210-A-C c.1115+201409A>C - IntronicSNV - 1/5 1
7-120122687-C-T c.1115+206886C>T - IntronicSNV - 1/5 1
7-120127294-T-A c.1115+211493T>A - IntronicSNV - 1/5 1
7-120134684-C-G c.1115+218883C>G - IntronicSNV - 1/5 1
7-120135393-C-T c.1115+219592C>T - IntronicSNV - 1/5 1
7-120136968-C-A c.1115+221167C>A - IntronicSNV - 1/5 2
7-120136968-C-G c.1115+221167C>G - IntronicSNV - 1/5 2
7-120139840-G-A c.1115+224039G>A - IntronicSNV - 1/5 1
7-120140973-A-G c.1115+225172A>G - IntronicSNV - 1/5 1
7-120141760-G-A c.1115+225959G>A - IntronicSNV - 1/5 1
7-120143402-C-A c.1115+227601C>A - IntronicSNV - 1/5 1
7-120145310-G-A c.1116-227647G>A - IntronicSNV - 1/5 1
7-120145405-C-T c.1116-227552C>T - IntronicSNV - 1/5 1
7-120149149-A-T c.1116-223808A>T - IntronicSNV - 1/5 1
7-120155270-C-T c.1116-217687C>T - IntronicSNV - 1/5 1
7-120164284-G-A c.1116-208673G>A - IntronicSNV - 1/5 1
7-120164284-G-T c.1116-208673G>T - IntronicSNV - 1/5 1
7-120169316-A-G c.1116-203641A>G - IntronicSNV - 1/5 1
7-120187785-C-A c.1116-185172C>A - IntronicSNV - 1/5 3
7-120187785-C-G c.1116-185172C>G - IntronicSNV - 1/5 3
7-120187785-C-T c.1116-185172C>T - IntronicSNV - 1/5 3
7-120196168-A-T c.1116-176789A>T - IntronicSNV - 1/5 1
7-120216928-C-A c.1116-156029C>A - IntronicSNV - 1/5 1
7-120216928-C-T c.1116-156029C>T - IntronicSNV - 1/5 1
7-120219759-A-T c.1116-153198A>T - IntronicSNV - 1/5 1
7-120225074-G-A c.1116-147883G>A - IntronicSNV - 1/5 3
7-120237813-C-G c.1116-135144C>G - IntronicSNV - 1/5 1
7-120237813-C-T c.1116-135144C>T - IntronicSNV - 1/5 1
7-120242785-G-A c.1116-130172G>A - IntronicSNV - 1/5 1
7-120242785-G-T c.1116-130172G>T - IntronicSNV - 1/5 1
7-120243576-T-G c.1116-129381T>G - IntronicSNV - 1/5 1
7-120259834-C-A c.1116-113123C>A - IntronicSNV - 1/5 1
7-120268303-T-C c.1116-104654T>C - IntronicSNV - 1/5 2
7-120269171-G-A c.1116-103786G>A - IntronicSNV - 1/5 1
7-120269866-C-A c.1116-103091C>A - IntronicSNV - 1/5 1
7-120271086-T-C c.1116-101871T>C - IntronicSNV - 1/5 1
7-120272871-A-G c.1116-100086A>G - IntronicSNV - 1/5 1
7-120272964-T-A c.1116-99993T>A - IntronicSNV - 1/5 1
7-120272964-T-G c.1116-99993T>G - IntronicSNV - 1/5 1
7-120273226-T-C c.1116-99731T>C - IntronicSNV - 1/5 1
7-120275961-A-G c.1116-96996A>G - IntronicSNV - 1/5 4
7-120282631-A-T c.1116-90326A>T - IntronicSNV - 1/5 1
7-120289216-T-A c.1116-83741T>A - IntronicSNV - 1/5 1
7-120291154-T-A c.1116-81803T>A - IntronicSNV - 1/5 1
7-120300038-G-A c.1116-72919G>A - IntronicSNV - 1/5 1
7-120300038-G-T c.1116-72919G>T - IntronicSNV - 1/5 1
7-120305149-G-A c.1116-67808G>A - IntronicSNV - 1/5 4
7-120307218-C-T c.1116-65739C>T - IntronicSNV - 1/5 1
7-120323727-A-C c.1116-49230A>C - IntronicSNV - 1/5 3
7-120323727-A-G c.1116-49230A>G - IntronicSNV - 1/5 3
7-120324327-A-G c.1116-48630A>G - IntronicSNV - 1/5 1
7-120327284-T-C c.1116-45673T>C - IntronicSNV - 1/5 1
7-120327349-C-T c.1116-45608C>T - IntronicSNV - 1/5 4
7-120329042-A-C c.1116-43915A>C - IntronicSNV - 1/5 1
7-120329455-A-G c.1116-43502A>G - IntronicSNV - 1/5 1
7-120330666-A-G c.1116-42291A>G - IntronicSNV - 1/5 1
7-120335338-A-G c.1116-37619A>G - IntronicSNV - 1/5 1
7-120338608-G-A c.1116-34349G>A - IntronicSNV - 1/5 1
7-120344218-C-A c.1116-28739C>A - IntronicSNV - 1/5 1
7-120350507-G-T c.1116-22450G>T - IntronicSNV - 1/5 1
7-120359727-G-T c.1116-13230G>T - IntronicSNV - 1/5 1
7-120371105-G-A c.1116-1852G>A - IntronicSNV - 1/5 1
7-120371941-A-G c.1116-1016A>G - IntronicSNV - 1/5 1
7-120372823-A-G c.1116-134A>G - IntronicSNV - 1/5 5
7-120372961-G-A c.1120G>A p.G374S Missense 2/6 - 2
7-120372962-G-A c.1121G>A p.G374D Missense 2/6 - 2
7-120372963-T-G c.1122T>G p.G374= Synonymous 2/6 - 1
7-120372964-G-A c.1123G>A p.D375N Missense 2/6 - 1
7-120372966-C-A c.1125C>A p.D375E Missense 2/6 - 1
7-120372966-C-G c.1125C>G p.D375E Missense 2/6 - 1
7-120372968-T-C c.1127T>C p.M376T Missense 2/6 - 1
7-120372975-A-C c.1134A>C p.P378= Synonymous 2/6 - 1
7-120372976-AA-GT c.1135_1136delinsGT p.K379V Missense 2/6 - 1
7-120372981-C-A c.1140C>A p.T380= Synonymous 2/6 - 1
7-120372981-C-T c.1140C>T p.T380= Synonymous 2/6 - 1
7-120372985-G-T c.1144G>T p.A382S Missense 2/6 - 1
7-120372986-C-T c.1145C>T p.A382V Missense 2/6 - 2
7-120372990-G-A c.1149G>A p.G383= Synonymous 2/6 - 4
7-120372990-G-C c.1149G>C p.G383= Synonymous 2/6 - 1
7-120372990-G-T c.1149G>T p.G383= Synonymous 2/6 - 1
7-120372996-T-G c.1155T>G p.I385M Missense 2/6 - 2
7-120373004-C-A c.1163C>A p.S388Y Missense 2/6 - 1
7-120373004-C-T c.1163C>T p.S388F Missense 2/6 - 2
7-120373007-T-C c.1166T>C p.I389T Missense 2/6 - 1
7-120373008-C-A c.1167C>A p.I389= Synonymous 2/6 - 2
7-120373008-C-T c.1167C>T p.I389= Synonymous 2/6 - 3
7-120373009-TG-GC c.1168_1169delinsGC p.C390A Missense 2/6 - 1
7-120373011-T-A c.1170T>A p.C390* Nonsense 2/6 - 4
7-120373013-C-A c.1172C>A p.S391* Nonsense 2/6 - 1
7-120373013-C-T c.1172C>T p.S391L Missense 2/6 - 6
7-120373014-G-A c.1173G>A p.S391= Synonymous 2/6 - 2
7-120373014-G-C c.1173G>C p.S391= Synonymous 2/6 - 1
7-120373014-G-T c.1173G>T p.S391= Synonymous 2/6 - 1
7-120373017-G-C c.1176G>C p.L392= Synonymous 2/6 - 1
7-120373026-C-T c.1185C>T p.V395= Synonymous 2/6 - 5
7-120373029-G-C c.1188G>C p.L396F Missense 2/6 - 1
7-120373029-G-T c.1188G>T p.L396F Missense 2/6 - 1
7-120373031-T-C c.1190T>C p.V397A Missense 2/6 - 1
7-120373033-AT-GC c.1192_1193delinsGC p.I398A Missense 2/6 - 1
7-120373037-C-T c.1196C>T p.A399V Missense 2/6 - 2
7-120373039-CT-GC c.1198_1199delinsGC p.L400A Missense 2/6 - 2
7-120373042-C-G c.1201C>G p.P401A Missense 2/6 - 1
7-120373043-C-T c.1202C>T p.P401L Missense 2/6 - 6
7-120373045-G-A c.1204G>A p.V402I Missense 2/6 - 1
7-120373045-G-GAAACTAAGAATTTT c.1204_1205insAAACTAAGAATTTT p.V402Efs*8 Frameshift 2/6 - 1
7-120373046-T-C c.1205T>C p.V402A Missense 2/6 - 3
7-120373048-C-G c.1207C>G p.P403A Missense 2/6 - 2
7-120373048-C-T c.1207C>T p.P403S Missense 2/6 - 1
7-120373049-C-T c.1208C>T p.P403L Missense 2/6 - 2
7-120373050-G-A c.1209G>A p.P403= Synonymous 2/6 - 2
7-120373050-G-T c.1209G>T p.P403= Synonymous 2/6 - 1
7-120373051-G-A c.1210G>A p.V404M Missense 2/6 - 9
7-120373051-GTG-ATC c.1210_1212delinsATC p.V404I Missense 2/6 - 2
7-120373051-GTG-TGT c.1210_1212delinsTGT p.V404C Missense 2/6 - 1
7-120373052-T-C c.1211T>C p.V404A Missense 2/6 - 3
7-120373054-AT-GC c.1213_1214delinsGC p.I405A Missense 2/6 - 1
7-120373057-G-A c.1216G>A p.V406I Missense 2/6 - 1
7-120373058-T-C c.1217T>C p.V406A Missense 2/6 - 2
7-120373060-T-G c.1219T>G p.S407A Missense 2/6 - 2
7-120373061-C-T c.1220C>T p.S407F Missense 2/6 - 4
7-120373062-C-A c.1221C>A p.S407= Synonymous 2/6 - 2
7-120373062-C-G c.1221C>G p.S407= Synonymous 2/6 - 1
7-120373062-C-T c.1221C>T p.S407= Synonymous 2/6 - 1
7-120373063-AA-GC c.1222_1223delinsGC p.N408A Missense 2/6 - 2
7-120373066-TT-GC c.1225_1226delinsGC p.F409A Missense 2/6 - 1
7-120373067-T-C c.1226T>C p.F409S Missense 2/6 - 1
7-120373069-AG-GC c.1228_1229delinsGC p.S410A Missense 2/6 - 1
7-120373072-CG-GC c.1231_1232delinsGC p.R411A Missense 2/6 - 1
7-120373072-C-T c.1231C>T p.R411C Missense 2/6 - 2
7-120373073-G-A c.1232G>A p.R411H Missense 2/6 - 3
7-120373073-G-T c.1232G>T p.R411L Missense 2/6 - 2
7-120373075-AT-GC c.1234_1235delinsGC p.I412A Missense 2/6 - 2
7-120373078-TA-GC c.1237_1238delinsGC p.Y413A Missense 2/6 - 2
7-120373083-C-A c.1242C>A p.H414Q Missense 2/6 - 2
7-120373083-C-G c.1242C>G p.H414Q Missense 2/6 - 3
7-120373093-C-T c.1252C>T p.R418* Nonsense 2/6 - 4
7-120373094-G-A c.1253G>A p.R418Q Missense 2/6 - 2
7-120373096-G-A c.1255G>A p.A419T Missense 2/6 - 1
7-120373098-A-AT c.1257_1258insT p.D420* Nonsense 2/6 - 2
7-120373099-GA-TG c.1258_1259delinsTG p.D420C Missense 2/6 - 1
7-120373099-G-C c.1258G>C p.D420H Missense 2/6 - 1
7-120373103-A-T c.1262A>T p.K421I Missense 2/6 - 1
7-120373105-C-A c.1264C>A p.R422= Synonymous 2/6 - 2
7-120373105-CGA-TGT c.1264_1266delinsTGT p.R422C Missense 2/6 - 1
7-120373105-C-T c.1264C>T p.R422* Nonsense 2/6 - 1
7-120373106-G-A c.1265G>A p.R422Q Missense 2/6 - 6
7-120373110-G-A c.1269G>A p.R423= Synonymous 2/6 - 1
7-120373111-G-A c.1270G>A p.A424T Missense 2/6 - 2
7-120373123-C-T c.1278+4C>T - IntronicSNV - 2/5 1
7-120373138-G-A c.1278+19G>A - IntronicSNV - 2/5 1
7-120373173-G-A c.1278+54G>A - IntronicSNV - 2/5 1
7-120373783-C-T c.1278+664C>T - IntronicSNV - 2/5 1
7-120376206-T-C c.1278+3087T>C - IntronicSNV - 2/5 1
7-120376959-A-C c.1278+3840A>C - IntronicSNV - 2/5 1
7-120380907-C-A c.1279-681C>A - IntronicSNV - 2/5 2
7-120380907-C-T c.1279-681C>T - IntronicSNV - 2/5 2
7-120381588-AAA-GAC c.1279_1281delinsGAC p.K427D Missense 3/6 - 1
7-120381588-A-T c.1279A>T p.K427* Nonsense 3/6 - 1
7-120381597-C-T c.1288C>T p.L430= Synonymous 3/6 - 1
7-120381601-C-A c.1292C>A p.A431D Missense 3/6 - 2
7-120381604-G-A c.1295G>A p.R432K Missense 3/6 - 1
7-120381605-G-A c.1296G>A p.R432= Synonymous 3/6 - 1
7-120381607-T-A c.1298T>A p.I433N Missense 3/6 - 1
7-120381609-C-T c.1300C>T p.R434W Missense 3/6 - 1
7-120381610-G-A c.1301G>A p.R434Q Missense 3/6 - 1
7-120381610-G-C c.1301G>C p.R434P Missense 3/6 - 2
7-120381613-C-A c.1304C>A p.A435E Missense 3/6 - 1
7-120381613-C-T c.1304C>T p.A435V Missense 3/6 - 1
7-120381615-G-C c.1306G>C p.A436P Missense 3/6 - 1
7-120381618-AA-GC c.1309_1310delinsGC p.K437A Missense 3/6 - 1
7-120381619-A-G c.1310A>G p.K437R Missense 3/6 - 2
7-120381621-A-G c.1312A>G p.S438G Missense 3/6 - 1
7-120381621-AG-GA c.1312_1313delinsGA p.S438D Missense 3/6 - 1
7-120381621-AG-GC c.1312_1313delinsGC p.S438A Missense 3/6 - 1
7-120381621-A-C c.1312A>C p.S438R Missense 3/6 - 1
7-120381623-C-A c.1314C>A p.S438R Missense 3/6 - 1
7-120381623-C-G c.1314C>G p.S438R Missense 3/6 - 1
7-120381623-C-T c.1314C>T p.S438= Synonymous 3/6 - 1
7-120381624-G-A c.1315G>A p.G439R Missense 3/6 - 1
7-120381625-G-A c.1316G>A p.G439E Missense 3/6 - 2
7-120381629-C-A c.1320C>A p.S440R Missense 3/6 - 1
7-120381629-C-T c.1320C>T p.S440= Synonymous 3/6 - 3
7-120381630-G-A c.1321G>A p.A441T Missense 3/6 - 2
7-120381634-A-G c.1325A>G p.N442S Missense 3/6 - 1
7-120381637-C-T c.1328C>T p.A443V Missense 3/6 - 1
7-120381638-T-A c.1329T>A p.A443= Synonymous 3/6 - 2
7-120381638-T-C c.1329T>C p.A443= Synonymous 3/6 - 3
7-120381638-T-G c.1329T>G p.A443= Synonymous 3/6 - 2
7-120381640-A-G c.1331A>G p.Y444C Missense 3/6 - 2
7-120381642-A-C c.1333A>C p.M445L Missense 3/6 - 1
7-120381648-AGC-TGA c.1339_1341delinsTGA p.S447* Nonsense 3/6 - 1
7-120381648-AG-GC c.1339_1340delinsGC p.S447A Missense 3/6 - 1
7-120381649-G-T c.1340G>T p.S447I Missense 3/6 - 2
7-120381648-A-C c.1339A>C p.S447R Missense 3/6 - 1
7-120381650-C-A c.1341C>A p.S447R Missense 3/6 - 1
7-120381650-C-G c.1341C>G p.S447R Missense 3/6 - 1
7-120381654-C-T c.1345C>T p.R449W Missense 3/6 - 1
7-120381661-G-T c.1352G>T p.G451V Missense 3/6 - 1
7-120381666-C-A c.1357C>A p.L453I Missense 3/6 - 1
7-120381666-C-G c.1357C>G p.L453V Missense 3/6 - 1
7-120381668-C-A c.1359C>A p.L453= Synonymous 3/6 - 1
7-120381672-A-G c.1363A>G p.N455D Missense 3/6 - 2
7-120381675-C-T c.1366C>T p.Q456* Nonsense 3/6 - 4
7-120381676-A-G c.1367A>G p.Q456R Missense 3/6 - 1
7-120381678-C-A c.1369C>A p.L457M Missense 3/6 - 1
7-120381679-T-C c.1370T>C p.L457P Missense 3/6 - 1
7-120381679-T-G c.1370T>G p.L457R Missense 3/6 - 1
7-120381681-C-A c.1372C>A p.Q458K Missense 3/6 - 1
7-120381959-TA-T c.1374+285del - IntronicDeletion - 3/5 1
7-120382564-TC-GA c.1375_1376inv p.S459D Missense 4/6 - 1
7-120382564-T-G c.1375T>G p.S459A Missense 4/6 - 1
7-120382568-C-G c.1379C>G p.S460* Nonsense 4/6 - 2
7-120382568-C-T c.1379C>T p.S460L Missense 4/6 - 2
7-120382573-G-A c.1384G>A p.D462N Missense 4/6 - 6
7-120382576-G-C c.1387G>C p.E463Q Missense 4/6 - 2
7-120382582-G-T c.1393G>T p.A465S Missense 4/6 - 1
7-120382583-C-A c.1394C>A p.A465D Missense 4/6 - 1
7-120382588-G-T c.1399G>T p.V467F Missense 4/6 - 1
7-120382591-AG-CC c.1402_1403delinsCC p.S468P Missense 4/6 - 1
7-120382592-G-A c.1403G>A p.S468N Missense 4/6 - 3
7-120382592-G-C c.1403G>C p.S468T Missense 4/6 - 1
7-120382597-TC-CG c.1408_1409delinsCG p.S470R Missense 4/6 - 1
7-120382598-C-T c.1409C>T p.S470F Missense 4/6 - 1
7-120382599-C-T c.1410C>T p.S470= Synonymous 4/6 - 3
7-120382600-G-A c.1411G>A p.G471S Missense 4/6 - 1
7-120382600-G-C c.1411G>C p.G471R Missense 4/6 - 1
7-120382601-G-T c.1412G>T p.G471V Missense 4/6 - 1
7-120382604-C-T c.1415C>T p.S472F Missense 4/6 - 1
7-120382608-C-T c.1419C>T p.S473= Synonymous 4/6 - 1
7-120382609-TT-GC c.1420_1421delinsGC p.F474A Missense 4/6 - 1
7-120382612-G-A c.1423G>A p.E475K Missense 4/6 - 2
7-120382612-G-C c.1423G>C p.E475Q Missense 4/6 - 1
7-120382615-A-G c.1426A>G p.T476A Missense 4/6 - 1
7-120382618-C-CCA c.1429_1430insCA p.Q477Pfs*101 Frameshift 4/6 - 2
7-120382618-C-CCG c.1429_1430insCG p.Q477Pfs*101 Frameshift 4/6 - 1
7-120382619-A-ATCATGT c.1430_1431insTCATGT p.Q477delinsHHV MultiAAMissense 4/6 - 1
7-120382620-G-C c.1431G>C p.Q477H Missense 4/6 - 1
7-120382620-G-T c.1431G>T p.Q477H Missense 4/6 - 1
7-120382621-C-A c.1432C>A p.H478N Missense 4/6 - 1
7-120382627-CA-GC c.1438_1439delinsGC p.H480A Missense 4/6 - 1
7-120382630-C-T c.1441C>T p.L481= Synonymous 4/6 - 1
7-120382632-G-A c.1443G>A p.L481= Synonymous 4/6 - 1
7-120382632-G-C c.1443G>C p.L481= Synonymous 4/6 - 1
7-120382632-G-T c.1443G>T p.L481= Synonymous 4/6 - 1
7-120382633-C-T c.1444C>T p.L482F Missense 4/6 - 1
7-120382633-CT-GC c.1444_1445delinsGC p.L482A Missense 4/6 - 1
7-120382636-C-A c.1447C>A p.H483N Missense 4/6 - 1
7-120382639-TG-GC c.1450_1451delinsGC p.C484A Missense 4/6 - 2
7-120382642-C-A c.1453C>A p.L485M Missense 4/6 - 1
7-120382642-C-T c.1453C>T p.L485= Synonymous 4/6 - 2
7-120382642-CTG-ATC c.1453_1455delinsATC p.L485I Missense 4/6 - 1
7-120382642-CT-GC c.1453_1454delinsGC p.L485A Missense 4/6 - 1
7-120382645-G-A c.1456G>A p.E486K Missense 4/6 - 8
7-120382645-G-T c.1456G>T p.E486* Nonsense 4/6 - 1
7-120382649-A-C c.1460A>C p.K487T Missense 4/6 - 1
7-120382650-A-G c.1461A>G p.K487= Synonymous 4/6 - 1
7-120382645-G-GA c.1462dup p.T488Nfs*13 Frameshift 4/6 - 5
7-120382651-A-G c.1462A>G p.T488A Missense 4/6 - 1
7-120382652-C-A c.1463C>A p.T488N Missense 4/6 - 3
7-120382656-G-A c.1467G>A p.T489= Synonymous 4/6 - 3
7-120382656-G-C c.1467G>C p.T489= Synonymous 4/6 - 1
7-120382656-G-T c.1467G>T p.T489= Synonymous 4/6 - 1
7-120382717-G-T c.1467+61G>T - IntronicSNV - 4/5 1
7-120382733-C-A c.1467+77C>A - IntronicSNV - 4/5 1
7-120382733-C-T c.1467+77C>T - IntronicSNV - 4/5 1
7-120383304-G-A c.1467+648G>A - IntronicSNV - 4/5 1
7-120385834-A-G c.1468A>G p.N490D Missense 5/6 - 1
7-120385836-T-A c.1470T>A p.N490K Missense 5/6 - 1
7-120385837-CA-GC c.1471_1472delinsGC p.H491A Missense 5/6 - 1
7-120385839-C-T c.1473C>T p.H491= Synonymous 5/6 - 2
7-120385840-G-A c.1474G>A p.E492K Missense 5/6 - 6
7-120385843-TT-GC c.1477_1478delinsGC p.F493A Missense 5/6 - 1
7-120385847-T-C c.1481T>C p.V494A Missense 5/6 - 1
7-120385848-G-T c.1482G>T p.V494= Synonymous 5/6 - 2
7-120385849-G-A c.1483G>A p.D495N Missense 5/6 - 2
7-120385850-A-G c.1484A>G p.D495G Missense 5/6 - 1
7-120385851-C-T c.1485C>T p.D495= Synonymous 5/6 - 2
7-120385852-G-A c.1486G>A p.E496K Missense 5/6 - 10
7-120385860-C-A c.1494C>A p.V498= Synonymous 5/6 - 1
7-120385860-C-G c.1494C>G p.V498= Synonymous 5/6 - 1
7-120385860-C-T c.1494C>T p.V498= Synonymous 5/6 - 1
7-120385864-G-A c.1498G>A p.E500K Missense 5/6 - 5
7-120385871-G-A c.1505G>A p.S502N Missense 5/6 - 1
7-120385873-TG-GC c.1507_1508delinsGC p.C503A Missense 5/6 - 1
7-120385875-C-A c.1509C>A p.C503* Nonsense 5/6 - 1
7-120385876-A-G c.1510A>G p.M504V Missense 5/6 - 1
7-120385879-G-A c.1513G>A p.E505K Missense 5/6 - 7
7-120385881-A-C c.1515A>C p.E505D Missense 5/6 - 2
7-120385881-A-T c.1515A>T p.E505D Missense 5/6 - 2
7-120385895-A-G c.1529A>G p.N510S Missense 5/6 - 3
7-120385896-T-A c.1530T>A p.N510K Missense 5/6 - 1
7-120385896-T-G c.1530T>G p.N510K Missense 5/6 - 1
7-120385897-C-T c.1531C>T p.R511C Missense 5/6 - 2
7-120385898-G-A c.1532G>A p.R511H Missense 5/6 - 5
7-120385900-C-T c.1534C>T p.P512S Missense 5/6 - 1
7-120385901-C-T c.1535C>T p.P512L Missense 5/6 - 5
7-120385909-C-T c.1543C>T p.H515Y Missense 5/6 - 4
7-120385915-C-T c.1549C>T p.P517S Missense 5/6 - 1
7-120385916-C-A c.1550C>A p.P517H Missense 5/6 - 3
7-120385919-C-T c.1553C>T p.S518L Missense 5/6 - 5
7-120385930-C-A c.1564C>A p.Q522K Missense 5/6 - 1
7-120385934-A-T c.1568A>T p.Q523L Missense 5/6 - 1
7-120385936-G-T c.1570G>T p.G524* Nonsense 5/6 - 1
7-120385937-G-A c.1571G>A p.G524E Missense 5/6 - 4
7-120385938-A-C c.1572A>C p.G524= Synonymous 5/6 - 1
7-120385942-A-G c.1576A>G p.T526A Missense 5/6 - 1
7-120385943-C-T c.1577C>T p.T526I Missense 5/6 - 1
7-120385946-G-A c.1580G>A p.S527N Missense 5/6 - 1
7-120385947-C-T c.1581C>T p.S527= Synonymous 5/6 - 2
7-120385950-C-T c.1584C>T p.T528= Synonymous 5/6 - 1
7-120385951-TG-GC c.1585_1586delinsGC p.C529A Missense 5/6 - 2
7-120385953-C-T c.1587C>T p.C529= Synonymous 5/6 - 1
7-120385954-TG-GC c.1588_1589delinsGC p.C530A Missense 5/6 - 2
7-120385956-T-C c.1590T>C p.C530= Synonymous 5/6 - 1
7-120385960-CGA-TGG c.1594_1596delinsTGG p.R532W Missense 5/6 - 1
7-120385960-C-T c.1594C>T p.R532* Nonsense 5/6 - 6
7-120385961-G-A c.1595G>A p.R532Q Missense 5/6 - 5
7-120385963-C-T c.1597C>T p.R533* Nonsense 5/6 - 4
7-120385964-G-A c.1598G>A p.R533Q Missense 5/6 - 7
7-120385964-G-C c.1598G>C p.R533P Missense 5/6 - 1
7-120385964-G-T c.1598G>T p.R533L Missense 5/6 - 1
7-120385968-C-A c.1602C>A p.H534Q Missense 5/6 - 2
7-120385968-C-CT c.1602_1603insT p.K535* Nonsense 5/6 - 1
7-120385968-C-G c.1602C>G p.H534Q Missense 5/6 - 3
7-120385969-A-C c.1603A>C p.K535Q Missense 5/6 - 1
7-120385969-A-T c.1603A>T p.K535* Nonsense 5/6 - 1
7-120385971-A-AT c.1605_1606insT p.K536* Nonsense 5/6 - 1
7-120385973-A-T c.1607A>T p.K536I Missense 5/6 - 2
7-120385968-CA-C c.1609del p.T537Lfs*40 Frameshift 5/6 - 5
7-120385968-C-CA c.1609dup p.T537Nfs*16 Frameshift 5/6 - 3
7-120385976-C-A c.1610C>A p.T537N Missense 5/6 - 1
7-120385976-C-T c.1610C>T p.T537I Missense 5/6 - 1
7-120385978-T-G c.1612T>G p.F538V Missense 5/6 - 1
7-120385979-T-C c.1613T>C p.F538S Missense 5/6 - 3
7-120385981-C-T c.1615C>T p.R539C Missense 5/6 - 4
7-120385981-TC-T c.1615del p.R539Afs*38 Frameshift 5/6 - 1
7-120385982-G-A c.1616G>A p.R539H Missense 5/6 - 1
7-120385982-G-T c.1616G>T p.R539L Missense 5/6 - 3
7-120385986-C-A c.1620C>A p.I540= Synonymous 5/6 - 1
7-120385986-C-T c.1620C>T p.I540= Synonymous 5/6 - 1
7-120385988-C-T c.1622C>T p.P541L Missense 5/6 - 1
7-120385992-T-A c.1626T>A p.N542K Missense 5/6 - 1
7-120385994-C-T c.1628C>T p.A543V Missense 5/6 - 1
7-120385997-A-G c.1631A>G p.N544S Missense 5/6 - 7
7-120386003-C-T c.1637C>T p.S546L Missense 5/6 - 1
7-120386008-AG-GC c.1642_1643delinsGC p.S548A Missense 5/6 - 1
7-120386013-T-C c.1647T>C p.H549= Synonymous 5/6 - 1
7-120386014-C-T c.1648C>T p.Q550* Nonsense 5/6 - 1
7-120386015-A-C c.1649A>C p.Q550P Missense 5/6 - 1
7-120386015-A-G c.1649A>G p.Q550R Missense 5/6 - 1
7-120386017-G-A c.1651G>A p.G551S Missense 5/6 - 1
7-120386017-G-T c.1651G>T p.G551C Missense 5/6 - 1
7-120386016-AG-A c.1652del p.G551Vfs*26 Frameshift 5/6 - 1
7-120386019-T-G c.1653T>G p.G551= Synonymous 5/6 - 1
7-120386020-AG-CC c.1654_1655delinsCC p.S552P Missense 5/6 - 1
7-120386020-AG-GA c.1654_1655delinsGA p.S552D Missense 5/6 - 2
7-120386020-AG-GC c.1654_1655delinsGC p.S552A Missense 5/6 - 9
7-120386029-G-A c.1663G>A p.E555K Missense 5/6 - 2
7-120386032-C-T c.1666C>T p.L556F Missense 5/6 - 1
7-120386036-G-T c.1670G>T p.S557I Missense 5/6 - 1
7-120386037-C-T c.1671C>T p.S557= Synonymous 5/6 - 1
7-120386040-G-A c.1674G>A p.T558= Synonymous 5/6 - 5
7-120386044-C-A c.1678C>A p.Q560K Missense 5/6 - 1
7-120386044-C-G c.1678C>G p.Q560E Missense 5/6 - 1
7-120386049-C-T c.1683C>T p.I561= Synonymous 5/6 - 2
7-120386051-G-C c.1685G>C p.R562T Missense 5/6 - 4
7-120386052-A-C c.1686A>C p.R562S Missense 5/6 - 1
7-120386053-TG-GC c.1687_1688delinsGC p.C563A Missense 5/6 - 1
7-120386062-A-G c.1696A>G p.R566G Missense 5/6 - 1
7-120386063-G-A c.1697G>A p.R566K Missense 5/6 - 6
7-120386065-ACA-GAC c.1699_1701delinsGAC p.T567D Missense 5/6 - 1
7-120386073-G-T c.1707G>T p.L569= Synonymous 5/6 - 1
7-120386074-TC-GA c.1708_1709inv p.S570D Missense 5/6 - 1
7-120386074-T-G c.1708T>G p.S570A Missense 5/6 - 1
7-120386075-C-T c.1709C>T p.S570F Missense 5/6 - 1
7-120386078-A-G c.1712A>G p.N571S Missense 5/6 - 2
7-120386080-AG-GC c.1714_1715delinsGC p.S572A Missense 5/6 - 1
7-120386085-C-T c.1715+4C>T - IntronicSNV - 5/5 1
7-120386180-G-A c.1715+99G>A - IntronicSNV - 5/5 1
7-120387247-A-T c.1716-488A>T - IntronicSNV - 5/5 1
7-120387736-C-A c.1717C>A p.R573= Synonymous 6/6 - 1
7-120387737-G-A c.1718G>A p.R573Q Missense 6/6 - 7
7-120387740-C-T c.1721C>T p.S574F Missense 6/6 - 1
7-120387741-C-A c.1722C>A p.S574= Synonymous 6/6 - 1
7-120387741-C-T c.1722C>T p.S574= Synonymous 6/6 - 1
7-120387742-AG-GC c.1723_1724delinsGC p.S575A Missense 6/6 - 1
7-120387755-A-G c.1736A>G p.K579R Missense 6/6 - 2
7-120387759-G-A c.1740G>A p.M580I Missense 6/6 - 2
7-120387760-G-A c.1741G>A p.E581K Missense 6/6 - 1
7-120387763-G-C c.1744G>C p.E582Q Missense 6/6 - 8
7-120387763-G-T c.1744G>T p.E582* Nonsense 6/6 - 3
7-120387764-A-G c.1745A>G p.E582G Missense 6/6 - 1
7-120387765-G-C c.1746G>C p.E582D Missense 6/6 - 1
7-120387766-TG-GC c.1747_1748delinsGC p.C583A Missense 6/6 - 1
7-120387775-CT-GC c.1756_1757delinsGC p.L586A Missense 6/6 - 1
7-120387777-A-AT c.1758_1759insT p.N587* Nonsense 6/6 - 1
7-120387778-AAACTG-A c.1759_1763del p.N587* Frameshift 6/6 - 1
7-120387779-A-C c.1760A>C p.N587T Missense 6/6 - 1
7-120387780-C-T c.1761C>T p.N587= Synonymous 6/6 - 2
7-120387781-TG-GC c.1762_1763delinsGC p.C588A Missense 6/6 - 2
7-120387797-T-A c.1778T>A p.V593E Missense 6/6 - 1
7-120387810-A-G c.1791A>G p.I597M Missense 6/6 - 1
7-120387818-T-C c.1799T>C p.I600T Missense 6/6 - 1
7-120387823-A-G c.1804A>G p.T602A Missense 6/6 - 5
7-120387824-CA-TG c.1805_1806inv p.T602M Missense 6/6 - 1
7-120387835-A-G c.1816A>G p.T606A Missense 6/6 - 1
7-120387837-C-T c.1818C>T p.T606= Synonymous 6/6 - 2
7-120387838-ACA-GAC c.1819_1821delinsGAC p.T607D Missense 6/6 - 2
7-120387838-A-G c.1819A>G p.T607A Missense 6/6 - 5
7-120387841-C-A c.1822C>A p.P608T Missense 6/6 - 2
7-120387841-C-G c.1822C>G p.P608A Missense 6/6 - 1
7-120387841-C-T c.1822C>T p.P608S Missense 6/6 - 2
7-120387844-G-A c.1825G>A p.E609K Missense 6/6 - 1
7-120387844-G-T c.1825G>T p.E609* Nonsense 6/6 - 1
7-120387847-G-A c.1828G>A p.G610R Missense 6/6 - 1
7-120387848-G-C c.1829G>C p.G610A Missense 6/6 - 1
7-120387848-G-T c.1829G>T p.G610V Missense 6/6 - 1
7-120387849-A-C c.1830A>C p.G610= Synonymous 6/6 - 3
7-120387849-A-G c.1830A>G p.G610= Synonymous 6/6 - 5
7-120387849-A-T c.1830A>T p.G610= Synonymous 6/6 - 3
7-120387852-C-T c.1833C>T p.D611= Synonymous 6/6 - 4
7-120387853-G-A c.1834G>A p.D612N Missense 6/6 - 14
7-120387856-A-C c.1837A>C p.R613= Synonymous 6/6 - 3
7-120387856-A-G c.1837A>G p.R613G Missense 6/6 - 2
7-120387856-A-T c.1837A>T p.R613W Missense 6/6 - 1
7-120387857-G-A c.1838G>A p.R613K Missense 6/6 - 1
7-120387858-G-A c.1839G>A p.R613= Synonymous 6/6 - 4
7-120387862-G-A c.1843G>A p.E615K Missense 6/6 - 3
7-120387865-TC-GA c.1846_1847inv p.S616D Missense 6/6 - 1
7-120387865-T-G c.1846T>G p.S616A Missense 6/6 - 5
7-120387866-C-T c.1847C>T p.S616F Missense 6/6 - 1
7-120387867-C-T c.1848C>T p.S616= Synonymous 6/6 - 1
7-120387868-C-T c.1849C>T p.P617S Missense 6/6 - 4
7-120387869-C-A c.1850C>A p.P617H Missense 6/6 - 1
7-120387870-T-A c.1851T>A p.P617= Synonymous 6/6 - 1
7-120387870-T-C c.1851T>C p.P617= Synonymous 6/6 - 1
7-120387870-T-G c.1851T>G p.P617= Synonymous 6/6 - 1
7-120387871-G-T c.1852G>T p.E618* Nonsense 6/6 - 1
7-120387876-C-A c.1857C>A p.Y619* Nonsense 6/6 - 1
7-120387876-C-T c.1857C>T p.Y619= Synonymous 6/6 - 1
7-120387878-C-T c.1859C>T p.S620L Missense 6/6 - 4
7-120387880-G-A c.1861G>A p.G621R Missense 6/6 - 1
7-120387881-G-A c.1862G>A p.G621E Missense 6/6 - 3
7-120387883-G-A c.1864G>A p.G622R Missense 6/6 - 1
7-120387883-G-C c.1864G>C p.G622R Missense 6/6 - 1
7-120387883-G-T c.1864G>T p.G622* Nonsense 6/6 - 2
7-120387884-G-A c.1865G>A p.G622E Missense 6/6 - 11
7-120387884-G-T c.1865G>T p.G622V Missense 6/6 - 1
7-120387890-T-C c.1871T>C p.I624T Missense 6/6 - 1
7-120387892-G-A c.1873G>A p.V625I Missense 6/6 - 5
7-120387893-T-A c.1874T>A p.V625D Missense 6/6 - 1
7-120387895-A-T c.1876A>T p.R626* Nonsense 6/6 - 1
7-120387898-G-A c.1879G>A p.V627I Missense 6/6 - 2
7-120387902-C-T c.1883C>T p.S628F Missense 6/6 - 1
7-120387904-G-A c.1885G>A p.A629T Missense 6/6 - 1
7-120387908-T-G c.1889T>G p.L630W Missense 6/6 - 1
7-120388604-T-C c.*692T>C - 3-UTRSNV 6/6 - 1
7-120388728-C-T c.*816C>T - 3-UTRSNV 6/6 - 1
7-120388746-T-A c.*834T>A - 3-UTRSNV 6/6 - 1
7-120388746-T-C c.*834T>C - 3-UTRSNV 6/6 - 1
7-120389648-T-A c.*1736T>A - 3-UTRSNV 6/6 - 2