USH2A usherin

Annotation transcript: NM_206933.4

5145 unique variant annotations were identified in 736 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-215799141-G-T c.15591C>A p.F5197L Missense 72/72 - 1
1-215799143-A-C c.15589T>G p.F5197V Missense 72/72 - 1
1-215799148-G-T c.15584C>A p.T5195N Missense 72/72 - 1
1-215799151-C-A c.15581G>T p.R5194L Missense 72/72 - 1
1-215799151-C-G c.15581G>C p.R5194P Missense 72/72 - 1
1-215799151-C-T c.15581G>A p.R5194H Missense 72/72 - 1
1-215799152-G-A c.15580C>T p.R5194C Missense 72/72 - 1
1-215799152-GTTCCT-G c.15575_15579del p.K5192Tfs*48 Frameshift 72/72 - 1
1-215799157-T-A c.15575A>T p.K5192M Missense 72/72 - 1
1-215799163-A-G c.15569T>C p.V5190A Missense 72/72 - 1
1-215799167-A-G c.15565T>C p.S5189P Missense 72/72 - 1
1-215799169-C-G c.15563G>C p.S5188T Missense 72/72 - 1
1-215799169-C-T c.15563G>A p.S5188N Missense 72/72 - 1
1-215799170-T-C c.15562A>G p.S5188G Missense 72/72 - 3
1-215799178-T-A c.15554A>T p.K5185M Missense 72/72 - 1
1-215799178-T-C c.15554A>G p.K5185R Missense 72/72 - 1
1-215799184-G-A c.15548C>T p.A5183V Missense 72/72 - 1
1-215799185-C-G c.15547G>C p.A5183P Missense 72/72 - 1
1-215799185-C-T c.15547G>A p.A5183T Missense 72/72 - 1
1-215799188-T-C c.15544A>G p.N5182D Missense 72/72 - 1
1-215799189-C-G c.15543G>C p.M5181I Missense 72/72 - 1
1-215799190-A-G c.15542T>C p.M5181T Missense 72/72 - 1
1-215799190-A-T c.15542T>A p.M5181K Missense 72/72 - 1
1-215799197-C-T c.15535G>A p.D5179N Missense 72/72 - 1
1-215799206-C-T c.15526G>A p.D5176N Missense 72/72 - 1
1-215800787-C-T c.15519+1369G>A - IntronicSNV - 71/71 1
1-215802157-A-G c.15518T>C p.L5173P Missense 71/72 - 1
1-215802160-C-T c.15515G>A p.G5172E Missense 71/72 - 1
1-215802162-A-T c.15513T>A p.S5171R Missense 71/72 - 1
1-215802167-T-C c.15508A>G p.N5170D Missense 71/72 - 1
1-215802169-T-C c.15506A>G p.H5169R Missense 71/72 - 1
1-215802172-C-T c.15503G>A p.G5168D Missense 71/72 - 1
1-215802174-C-T c.15501G>A p.M5167I Missense 71/72 - 1
1-215802175-A-G c.15500T>C p.M5167T Missense 71/72 - 1
1-215802179-T-C c.15496A>G p.I5166V Missense 71/72 - 1
1-215802181-G-C c.15494C>G p.A5165G Missense 71/72 - 3
1-215802181-G-A c.15494C>T p.A5165V Missense 71/72 - 1
1-215802185-C-A c.15490G>T p.E5164* Nonsense 71/72 - 1
1-215802185-C-T c.15490G>A p.E5164K Missense 71/72 - 1
1-215802186-C-A c.15489G>T p.W5163C Missense 71/72 - 1
1-215802186-C-G c.15489G>C p.W5163C Missense 71/72 - 1
1-215802196-T-C c.15479A>G p.N5160S Missense 71/72 - 1
1-215802212-T-C c.15463A>G p.K5155E Missense 71/72 - 1
1-215802217-T-A c.15458A>T p.D5153V Missense 71/72 - 1
1-215802218-C-A c.15457G>T p.D5153Y Missense 71/72 - 1
1-215802218-C-G c.15457G>C p.D5153H Missense 71/72 - 1
1-215802224-T-C c.15451A>G p.I5151V Missense 71/72 - 1
1-215802229-A-G c.15446T>C p.M5149T Missense 71/72 - 1
1-215802230-T-C c.15445A>G p.M5149V Missense 71/72 - 1
1-215802237-G-A c.15438C>T p.S5146= Synonymous 71/72 - 1
1-215802237-G-C c.15438C>G p.S5146R Missense 71/72 - 1
1-215802242-C-T c.15433G>A p.V5145I Missense 71/72 - 4
1-215802247-C-T c.15428G>A p.R5143H Missense 71/72 - 2
1-215802247-C-G c.15428G>C p.R5143P Missense 71/72 - 1
1-215802248-G-A c.15427C>T p.R5143C Missense 71/72 - 4
1-215802259-C-T c.15416G>A p.G5139D Missense 71/72 - 1
1-215802280-G-A c.15395C>T p.T5132I Missense 71/72 - 1
1-215802295-G-A c.15380C>T p.P5127L Missense 71/72 - 1
1-215802295-G-C c.15380C>G p.P5127R Missense 71/72 - 1
1-215802295-G-T c.15380C>A p.P5127Q Missense 71/72 - 1
1-215802298-A-G c.15377T>C p.I5126T Missense 71/72 - 6
1-215802301-C-T c.15374G>A p.R5125H Missense 71/72 - 1
1-215802302-G-A c.15373C>T p.R5125C Missense 71/72 - 2
1-215802302-G-T c.15373C>A p.R5125S Missense 71/72 - 1
1-215802311-A-G c.15364T>C p.C5122R Missense 71/72 - 3
1-215802315-A-C c.15360T>G p.S5120R Missense 71/72 - 1
1-215802315-A-G c.15360T>C p.S5120= Synonymous 71/72 - 1
1-215802317-T-C c.15358A>G p.S5120G Missense 71/72 - 1
1-215802317-T-G c.15358A>C p.S5120R Missense 71/72 - 1
1-215802319-C-A c.15356G>T p.R5119L Missense 71/72 - 1
1-215802319-C-T c.15356G>A p.R5119Q Missense 71/72 - 1
1-215802320-G-A c.15355C>T p.R5119W Missense 71/72 - 5
1-215802320-G-T c.15355C>A p.R5119= Synonymous 71/72 - 2
1-215802328-C-T c.15347G>A p.R5116H Missense 71/72 - 1
1-215802329-G-A c.15346C>T p.R5116C Missense 71/72 - 1
1-215802332-T-C c.15343A>G p.I5115V Missense 71/72 - 1
1-215802339-A-G c.15336T>C p.P5112= Synonymous 71/72 - 1
1-215802343-G-T c.15332C>A p.T5111K Missense 71/72 - 1
1-215802346-C-T c.15329G>A p.G5110E Missense 71/72 - 1
1-215802352-C-A c.15323G>T p.R5108L Missense 71/72 - 1
1-215802352-C-T c.15323G>A p.R5108Q Missense 71/72 - 1
1-215802353-G-A c.15322C>T p.R5108W Missense 71/72 - 1
1-215802353-G-C c.15322C>G p.R5108G Missense 71/72 - 1
1-215802360-T-A c.15315A>T p.K5105N Missense 71/72 - 1
1-215802368-C-T c.15307G>A p.D5103N Missense 71/72 - 1
1-215802376-C-G c.15299G>C p.G5100A Missense 71/72 - 1
1-215802377-C-T c.15298G>A p.G5100R Missense 71/72 - 1
1-215803541-A-G c.15298-1164T>C - IntronicSNV - 70/71 1
1-215803553-T-C c.15298-1176A>G - IntronicSNV - 70/71 1
1-215803556-A-C c.15298-1179T>G - IntronicSNV - 70/71 1
1-215803562-A-G c.15298-1185T>C - IntronicSNV - 70/71 1
1-215803568-C-G c.15298-1191G>C - IntronicSNV - 70/71 1
1-215803580-G-C c.15298-1203C>G - IntronicSNV - 70/71 1
1-215803600-A-C c.15298-1223T>G - IntronicSNV - 70/71 1
1-215807798-T-C c.15297+3A>G - IntronicSNV - 70/71 3
1-215807800-C-G c.15297+1G>C - IntronicSNV - 70/71 1
1-215807802-A-G c.15296T>C p.M5099T Missense 70/72 - 1
1-215807806-G-T c.15292C>A p.H5098N Missense 70/72 - 1
1-215807808-T-C c.15290A>G p.N5097S Missense 70/72 - 1
1-215807812-C-G c.15286G>C p.E5096Q Missense 70/72 - 1
1-215807812-C-T c.15286G>A p.E5096K Missense 70/72 - 1
1-215807811-TC-T c.15286del p.E5096Kfs*6 Frameshift 70/72 - 1
1-215807817-G-A c.15281C>T p.P5094L Missense 70/72 - 1
1-215807818-G-A c.15280C>T p.P5094S Missense 70/72 - 1
1-215807821-G-A c.15277C>T p.P5093S Missense 70/72 - 1
1-215807823-T-C c.15275A>G p.Y5092C Missense 70/72 - 1
1-215807824-A-G c.15274T>C p.Y5092H Missense 70/72 - 1
1-215807829-T-C c.15269A>G p.N5090S Missense 70/72 - 1
1-215807830-T-G c.15268A>C p.N5090H Missense 70/72 - 1
1-215807832-A-G c.15266T>C p.L5089S Missense 70/72 - 1
1-215807833-A-G c.15265T>C p.L5089= Synonymous 70/72 - 1
1-215807833-A-T c.15265T>A p.L5089M Missense 70/72 - 1
1-215807846-C-T c.15252G>A p.K5084= Synonymous 70/72 - 1
1-215807848-T-C c.15250A>G p.K5084E Missense 70/72 - 1
1-215807849-C-G c.15249G>C p.Q5083H Missense 70/72 - 1
1-215807850-T-A c.15248A>T p.Q5083L Missense 70/72 - 1
1-215807854-G-T c.15244C>A p.L5082I Missense 70/72 - 1
1-215807859-A-G c.15239T>C p.V5080A Missense 70/72 - 1
1-215807865-G-C c.15233C>G p.P5078R Missense 70/72 - 4
1-215807865-G-A c.15233C>T p.P5078L Missense 70/72 - 1
1-215807866-G-A c.15232C>T p.P5078S Missense 70/72 - 1
1-215807871-C-T c.15227G>A p.R5076K Missense 70/72 - 1
1-215807883-T-C c.15215A>G p.Y5072C Missense 70/72 - 1
1-215807886-G-A c.15212C>T p.P5071L Missense 70/72 - 1
1-215807885-TGGCTCTTTGTG-T c.15202_15212del p.H5068Ifs*106 Frameshift 70/72 - 1
1-215807887-G-T c.15211C>A p.P5071T Missense 70/72 - 1
1-215807889-T-C c.15209A>G p.E5070G Missense 70/72 - 1
1-215807890-C-A c.15208G>T p.E5070* Nonsense 70/72 - 1
1-215807895-T-C c.15203A>G p.H5068R Missense 70/72 - 1
1-215807898-GA-G c.15200del p.I5067Tfs*23 Frameshift 70/72 - 1
1-215807898-AT-A c.15199del p.I5067Sfs*23 Frameshift 70/72 - 1
1-215807908-G-T c.15190C>A p.Q5064K Missense 70/72 - 1
1-215807910-A-G c.15188T>C p.L5063P Missense 70/72 - 1
1-215807920-A-G c.15178T>C p.S5060P Missense 70/72 - 11
1-215807926-A-G c.15172T>C p.F5058L Missense 70/72 - 1
1-215807929-T-A c.15169A>T p.I5057F Missense 70/72 - 2
1-215807932-C-T c.15166G>A p.A5056T Missense 70/72 - 1
1-215807934-A-C c.15164T>G p.L5055W Missense 70/72 - 1
1-215807936-C-G c.15162G>C p.L5054F Missense 70/72 - 1
1-215807940-A-T c.15158T>A p.I5053N Missense 70/72 - 1
1-215807955-G-A c.15143C>T p.A5048V Missense 70/72 - 2
1-215807956-C-A c.15142G>T p.A5048S Missense 70/72 - 1
1-215807959-T-G c.15139A>C p.M5047L Missense 70/72 - 1
1-215807965-C-G c.15133G>C p.V5045L Missense 70/72 - 1
1-215807965-C-T c.15133G>A p.V5045M Missense 70/72 - 1
1-215807968-T-A c.15130A>T p.I5044L Missense 70/72 - 1
1-215807968-T-G c.15130A>C p.I5044L Missense 70/72 - 1
1-215807968-T-C c.15130A>G p.I5044V Missense 70/72 - 1
1-215807977-G-T c.15121C>A p.L5041M Missense 70/72 - 1
1-215807981-G-A c.15117C>T p.S5039= Synonymous 70/72 - 1
1-215807981-G-T c.15117C>A p.S5039R Missense 70/72 - 1
1-215807987-G-A c.15111C>T p.F5037= Synonymous 70/72 - 1
1-215807987-G-C c.15111C>G p.F5037L Missense 70/72 - 1
1-215807992-CTG-C c.15104_15105del p.T5035Rfs*142 Frameshift 70/72 - 1
1-215807997-C-T c.15101G>A p.S5034N Missense 70/72 - 1
1-215807999-T-A c.15099A>T p.K5033N Missense 70/72 - 1
1-215808003-C-T c.15095G>A p.S5032N Missense 70/72 - 1
1-215808004-T-A c.15094A>T p.S5032C Missense 70/72 - 1
1-215808004-T-C c.15094A>G p.S5032G Missense 70/72 - 1
1-215808004-T-G c.15094A>C p.S5032R Missense 70/72 - 1
1-215808006-C-T c.15092G>A p.R5031Q Missense 70/72 - 1
1-215808007-G-A c.15091C>T p.R5031W Missense 70/72 - 5
1-215808009-G-T c.15089C>A p.S5030* Nonsense 70/72 - 5
1-215808009-G-A c.15089C>T p.S5030L Missense 70/72 - 1
1-215808010-A-G c.15088T>C p.S5030P Missense 70/72 - 1
1-215808012-C-T c.15086G>A p.G5029E Missense 70/72 - 1
1-215808017-CTTTTTCCCAGGAGTTGTT-GC c.15063_15081delinsGC p.T5022Qfs*150 Frameshift 70/72 - 1
1-215808018-T-C c.15080A>G p.K5027R Missense 70/72 - 1
1-215808022-T-C c.15076A>G p.K5026E Missense 70/72 - 3
1-215808024-C-G c.15074G>C p.G5025A Missense 70/72 - 1
1-215808025-C-T c.15073G>A p.G5025R Missense 70/72 - 1
1-215812497-C-G c.15052G>C p.G5018R Missense 69/72 - 1
1-215812500-G-A c.15049C>T p.L5017F Missense 69/72 - 1
1-215812511-G-A c.15038C>T p.T5013I Missense 69/72 - 1
1-215812511-G-T c.15038C>A p.T5013N Missense 69/72 - 1
1-215812520-T-A c.15029A>T p.Q5010L Missense 69/72 - 1
1-215812529-G-A c.15020C>T p.P5007L Missense 69/72 - 2
1-215812531-C-T c.15018G>A p.T5006= Synonymous 69/72 - 1
1-215812531-C-A c.15018G>T p.T5006= Synonymous 69/72 - 1
1-215812531-C-G c.15018G>C p.T5006= Synonymous 69/72 - 1
1-215812532-G-A c.15017C>T p.T5006M Missense 69/72 - 5
1-215812544-C-T c.15005G>A p.G5002E Missense 69/72 - 1
1-215812548-C-T c.15001G>A p.E5001K Missense 69/72 - 2
1-215812549-G-A c.15000C>T p.D5000= Synonymous 69/72 - 1
1-215812549-G-T c.15000C>A p.D5000E Missense 69/72 - 1
1-215812550-T-C c.14999A>G p.D5000G Missense 69/72 - 1
1-215812554-T-C c.14995A>G p.T4999A Missense 69/72 - 1
1-215812556-G-A c.14993C>T p.T4998M Missense 69/72 - 1
1-215812556-G-T c.14993C>A p.T4998K Missense 69/72 - 1
1-215812562-A-T c.14987T>A p.I4996N Missense 69/72 - 1
1-215812561-GATGACCTGGAA-G c.14977_14987del p.F4993Lfs*4 Frameshift 69/72 - 1
1-215812565-A-G c.14984T>C p.V4995A Missense 69/72 - 1
1-215812570-GAA-G c.14977_14978del p.F4993Pfs*7 Frameshift 69/72 - 5
1-215812580-G-A c.14969C>T p.T4990I Missense 69/72 - 1
1-215812580-G-C c.14969C>G p.T4990S Missense 69/72 - 1
1-215812580-G-T c.14969C>A p.T4990N Missense 69/72 - 1
1-215813902-T-C c.14966A>G p.K4989R Missense 68/72 - 1
1-215813903-T-C c.14965A>G p.K4989E Missense 68/72 - 1
1-215813903-T-G c.14965A>C p.K4989Q Missense 68/72 - 1
1-215813904-G-T c.14964C>A p.D4988E Missense 68/72 - 1
1-215813905-T-C c.14963A>G p.D4988G Missense 68/72 - 1
1-215813908-G-A c.14960C>T p.A4987V Missense 68/72 - 1
1-215813911-G-A c.14957C>T p.T4986M Missense 68/72 - 1
1-215813914-C-T c.14954G>A p.R4985K Missense 68/72 - 1
1-215813917-G-A c.14951C>T p.P4984L Missense 68/72 - 1
1-215813917-G-C c.14951C>G p.P4984R Missense 68/72 - 1
1-215813917-G-T c.14951C>A p.P4984Q Missense 68/72 - 1
1-215813918-G-T c.14950C>A p.P4984T Missense 68/72 - 1
1-215813920-A-G c.14948T>C p.I4983T Missense 68/72 - 1
1-215813921-T-G c.14947A>C p.I4983L Missense 68/72 - 1
1-215813923-T-C c.14945A>G p.Y4982C Missense 68/72 - 1
1-215813932-G-T c.14936C>A p.T4979N Missense 68/72 - 1
1-215813933-T-C c.14935A>G p.T4979A Missense 68/72 - 1
1-215813937-C-A c.14931G>T p.L4977F Missense 68/72 - 1
1-215813937-C-T c.14931G>A p.L4977= Synonymous 68/72 - 1
1-215813941-C-A c.14927G>T p.G4976V Missense 68/72 - 1
1-215813942-C-T c.14926G>A p.G4976S Missense 68/72 - 2
1-215813945-T-G c.14923A>C p.S4975R Missense 68/72 - 1
1-215813951-C-T c.14917G>A p.V4973M Missense 68/72 - 1
1-215813952-G-A c.14916C>T p.R4972= Synonymous 68/72 - 1
1-215813953-C-A c.14915G>T p.R4972L Missense 68/72 - 1
1-215813953-C-T c.14915G>A p.R4972H Missense 68/72 - 1
1-215813954-G-A c.14914C>T p.R4972C Missense 68/72 - 1
1-215813956-C-T c.14912G>A p.R4971Q Missense 68/72 - 1
1-215813957-G-A c.14911C>T p.R4971* Nonsense 68/72 - 7
1-215813959-C-T c.14909G>A p.G4970E Missense 68/72 - 1
1-215813962-C-G c.14906G>C p.G4969A Missense 68/72 - 1
1-215813963-C-T c.14905G>A p.G4969R Missense 68/72 - 1
1-215813964-G-A c.14904C>T p.D4968= Synonymous 68/72 - 1
1-215813966-C-T c.14902G>A p.D4968N Missense 68/72 - 1
1-215813975-C-G c.14893G>C p.V4965L Missense 68/72 - 1
1-215813975-C-T c.14893G>A p.V4965M Missense 68/72 - 1
1-215813982-C-CT c.14885dup p.E4963Gfs*38 Frameshift 68/72 - 1
1-215813993-C-T c.14875G>A p.G4959S Missense 68/72 - 1
1-215813994-G-A c.14874C>T p.N4958= Synonymous 68/72 - 1
1-215813994-G-T c.14874C>A p.N4958K Missense 68/72 - 1
1-215814002-G-C c.14866C>G p.L4956V Missense 68/72 - 1
1-215814007-G-C c.14861C>G p.T4954S Missense 68/72 - 1
1-215814008-T-C c.14860A>G p.T4954A Missense 68/72 - 1
1-215814010-T-C c.14858A>G p.D4953G Missense 68/72 - 1
1-215814018-G-T c.14850C>A p.N4950K Missense 68/72 - 1
1-215814025-C-G c.14843G>C p.C4948S Missense 68/72 - 1
1-215814026-A-G c.14842T>C p.C4948R Missense 68/72 - 1
1-215814020-TCA-T c.14846_14847del p.V4949Efs*4 Frameshift 68/72 - 1
1-215814033-CA-C c.14835del p.V4946Wfs*4 Frameshift 68/72 - 2
1-215814036-C-A c.14832G>T p.L4944F Missense 68/72 - 1
1-215814036-C-T c.14832G>A p.L4944= Synonymous 68/72 - 1
1-215814044-T-C c.14824A>G p.S4942G Missense 68/72 - 2
1-215814047-C-T c.14821G>A p.D4941N Missense 68/72 - 1
1-215814052-G-A c.14816C>T p.S4939L Missense 68/72 - 1
1-215814055-A-G c.14813T>C p.F4938S Missense 68/72 - 1
1-215814052-GA-G c.14815del p.S4939Rfs*11 Frameshift 68/72 - 1
1-215814058-G-A c.14810C>T p.P4937L Missense 68/72 - 1
1-215814064-C-T c.14804G>A p.R4935Q Missense 68/72 - 4
1-215814065-G-A c.14803C>T p.R4935* Nonsense 68/72 - 10
1-215814069-C-A c.14799G>T p.Q4933H Missense 68/72 - 1
1-215814070-T-A c.14798A>T p.Q4933L Missense 68/72 - 1
1-215814071-G-A c.14797C>T p.Q4933* Nonsense 68/72 - 1
1-215814073-G-A c.14795C>T p.P4932L Missense 68/72 - 2
1-215814076-A-G c.14792T>C p.L4931S Missense 68/72 - 1
1-215820808-TTCTCCTGACCACATTCCAATC-T c.14791+35_14791+55del - IntronicDeletion - 67/71 1
1-215820859-C-T c.14791+5G>A - IntronicSNV - 67/71 1
1-215820862-A-T c.14791+2T>A - IntronicSNV - 67/71 1
1-215820867-C-G c.14788G>C p.E4930Q Missense 67/72 - 1
1-215820880-G-A c.14775C>T p.F4925= Synonymous 67/72 - 1
1-215820884-C-A c.14771G>T p.S4924I Missense 67/72 - 1
1-215820888-T-G c.14767A>C p.I4923L Missense 67/72 - 1
1-215820889-C-T c.14766G>A p.W4922* Nonsense 67/72 - 1
1-215820888-TC-T c.14766del p.W4922* Frameshift 67/72 - 1
1-215820894-C-T c.14761G>A p.E4921K Missense 67/72 - 2
1-215820894-C-A c.14761G>T p.E4921* Nonsense 67/72 - 1
1-215820896-G-C c.14759C>G p.S4920C Missense 67/72 - 1
1-215820902-G-A c.14753C>T p.T4918M Missense 67/72 - 3
1-215820902-G-T c.14753C>A p.T4918K Missense 67/72 - 1
1-215820905-C-A c.14750G>T p.S4917I Missense 67/72 - 1
1-215820905-C-T c.14750G>A p.S4917N Missense 67/72 - 1
1-215820912-C-T c.14743G>A p.V4915M Missense 67/72 - 1
1-215820915-C-T c.14740G>A p.E4914K Missense 67/72 - 2
1-215820915-C-A c.14740G>T p.E4914* Nonsense 67/72 - 1
1-215820917-T-G c.14738A>C p.N4913T Missense 67/72 - 1
1-215820921-G-A c.14734C>T p.H4912Y Missense 67/72 - 1
1-215820921-G-T c.14734C>A p.H4912N Missense 67/72 - 1
1-215820937-C-A c.14718G>T p.K4906N Missense 67/72 - 2
1-215820937-C-T c.14718G>A p.K4906= Synonymous 67/72 - 1
1-215820941-T-C c.14714A>G p.Y4905C Missense 67/72 - 1
1-215820956-T-G c.14699A>C p.Q4900P Missense 67/72 - 1
1-215820960-G-A c.14695C>T p.L4899F Missense 67/72 - 1
1-215820969-G-A c.14686C>T p.L4896F Missense 67/72 - 1
1-215820969-G-C c.14686C>G p.L4896V Missense 67/72 - 1
1-215820972-T-C c.14683A>G p.S4895G Missense 67/72 - 2
1-215820975-C-T c.14680G>A p.A4894T Missense 67/72 - 2
1-215820991-C-T c.14664G>A p.T4888= Synonymous 67/72 - 1
1-215820987-GC-G c.14667del p.L4890Wfs*18 Frameshift 67/72 - 1
1-215820992-G-A c.14663C>T p.T4888M Missense 67/72 - 2
1-215820992-G-T c.14663C>A p.T4888K Missense 67/72 - 1
1-215820993-T-A c.14662A>T p.T4888S Missense 67/72 - 2
1-215820993-T-C c.14662A>G p.T4888A Missense 67/72 - 1
1-215820997-C-A c.14658G>T p.K4886N Missense 67/72 - 1
1-215821012-G-A c.14643C>T p.S4881= Synonymous 67/72 - 1
1-215821012-G-T c.14643C>A p.S4881R Missense 67/72 - 1
1-215821013-C-G c.14642G>C p.S4881T Missense 67/72 - 1
1-215821019-G-A c.14636C>T p.T4879I Missense 67/72 - 1
1-215821020-T-C c.14635A>G p.T4879A Missense 67/72 - 1
1-215821023-A-C c.14632T>G p.C4878G Missense 67/72 - 1
1-215821023-A-T c.14632T>A p.C4878S Missense 67/72 - 1
1-215821030-G-A c.14625C>T p.A4875= Synonymous 67/72 - 1
1-215821035-A-G c.14620T>C p.S4874P Missense 67/72 - 1
1-215821053-C-A c.14602G>T p.V4868L Missense 67/72 - 1
1-215821053-C-T c.14602G>A p.V4868M Missense 67/72 - 1
1-215821055-T-A c.14600A>T p.H4867L Missense 67/72 - 1
1-215821055-T-C c.14600A>G p.H4867R Missense 67/72 - 1
1-215821061-T-C c.14594A>G p.Q4865R Missense 67/72 - 1
1-215821068-C-A c.14587G>T p.E4863* Nonsense 67/72 - 1
1-215821068-C-T c.14587G>A p.E4863K Missense 67/72 - 1
1-215821069-A-T c.14586T>A p.Y4862* Nonsense 67/72 - 1
1-215821069-A-C c.14586T>G p.Y4862* Nonsense 67/72 - 1
1-215821873-T-C c.14579A>G p.H4860R Missense 66/72 - 1
1-215821879-A-T c.14573T>A p.V4858D Missense 66/72 - 1
1-215821882-C-G c.14570G>C p.G4857A Missense 66/72 - 1
1-215821883-C-T c.14569G>A p.G4857S Missense 66/72 - 1
1-215821885-T-C c.14567A>G p.N4856S Missense 66/72 - 1
1-215821885-T-G c.14567A>C p.N4856T Missense 66/72 - 1
1-215821886-TG-T c.14565del p.N4856Mfs*28 Frameshift 66/72 - 1
1-215821891-A-G c.14561T>C p.F4854S Missense 66/72 - 1
1-215821893-C-A c.14559G>T p.M4853I Missense 66/72 - 1
1-215821894-A-G c.14558T>C p.M4853T Missense 66/72 - 1
1-215821895-T-C c.14557A>G p.M4853V Missense 66/72 - 3
1-215821898-G-A c.14554C>T p.P4852S Missense 66/72 - 1
1-215821901-G-A c.14551C>T p.P4851S Missense 66/72 - 1
1-215821901-G-T c.14551C>A p.P4851T Missense 66/72 - 1
1-215821902-A-C c.14550T>G p.S4850R Missense 66/72 - 1
1-215821902-A-T c.14550T>A p.S4850R Missense 66/72 - 1
1-215821903-C-A c.14549G>T p.S4850I Missense 66/72 - 1
1-215821904-T-G c.14548A>C p.S4850R Missense 66/72 - 1
1-215821907-A-G c.14545T>C p.W4849R Missense 66/72 - 1
1-215821909-C-T c.14543G>A p.R4848Q Missense 66/72 - 3
1-215821910-G-A c.14542C>T p.R4848W Missense 66/72 - 1
1-215821915-G-A c.14537C>T p.S4846F Missense 66/72 - 1
1-215821915-G-C c.14537C>G p.S4846C Missense 66/72 - 1
1-215821918-G-A c.14534C>T p.A4845V Missense 66/72 - 1
1-215821919-C-T c.14533G>A p.A4845T Missense 66/72 - 1
1-215821921-G-A c.14531C>T p.T4844M Missense 66/72 - 2
1-215821921-G-C c.14531C>G p.T4844R Missense 66/72 - 1
1-215821921-G-T c.14531C>A p.T4844K Missense 66/72 - 1
1-215821924-C-T c.14528G>A p.R4843K Missense 66/72 - 2
1-215821925-T-C c.14527A>G p.R4843G Missense 66/72 - 3
1-215821927-G-T c.14525C>A p.S4842* Nonsense 66/72 - 1
1-215821930-G-A c.14522C>T p.A4841V Missense 66/72 - 1
1-215821932-C-T c.14520G>A p.L4840= Synonymous 66/72 - 1
1-215821932-C-G c.14520G>C p.L4840= Synonymous 66/72 - 1
1-215821934-G-A c.14518C>T p.L4840= Synonymous 66/72 - 1
1-215821932-C-A c.14520G>T p.L4840= Synonymous 66/72 - 1
1-215821933-A-G c.14519T>C p.L4840P Missense 66/72 - 3
1-215821936-G-A c.14516C>T p.T4839M Missense 66/72 - 1
1-215821939-C-T c.14513G>A p.G4838E Missense 66/72 - 3
1-215821939-C-A c.14513G>T p.G4838V Missense 66/72 - 1
1-215821940-C-T c.14512G>A p.G4838R Missense 66/72 - 2
1-215821940-C-G c.14512G>C p.G4838R Missense 66/72 - 1
1-215821945-T-C c.14507A>G p.Q4836R Missense 66/72 - 1
1-215821945-TGTG-T c.14504_14506del p.P4835del InFrameDeletion 66/72 - 1
1-215821946-GTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGC-G c.14458_14505del p.A4820_P4835del InFrameDeletion 66/72 - 1
1-215821951-G-T c.14501C>A p.S4834Y Missense 66/72 - 1
1-215821954-G-A c.14498C>T p.S4833F Missense 66/72 - 1
1-215821957-A-T c.14495T>A p.L4832Q Missense 66/72 - 1
1-215821960-C-A c.14492G>T p.G4831V Missense 66/72 - 1
1-215821961-C-T c.14491G>A p.G4831R Missense 66/72 - 1
1-215821963-G-T c.14489C>A p.S4830* Nonsense 66/72 - 1
1-215821963-G-C c.14489C>G p.S4830* Nonsense 66/72 - 1
1-215821971-G-A c.14481C>T p.A4827= Synonymous 66/72 - 1
1-215821967-GTGGGGCAGGA-G c.14475_14484del p.A4827Qfs*54 Frameshift 66/72 - 1
1-215821973-C-G c.14479G>C p.A4827P Missense 66/72 - 1
1-215821979-G-A c.14473C>T p.H4825Y Missense 66/72 - 1
1-215821999-G-A c.14453C>T p.P4818L Missense 66/72 - 8
1-215821997-TCGGTCCTTTGCTGCAA-T c.14439_14454del p.C4813* Frameshift 66/72 - 1
1-215822002-C-T c.14450G>A p.G4817E Missense 66/72 - 1
1-215822003-C-T c.14449G>A p.G4817R Missense 66/72 - 1
1-215822006-T-A c.14446A>T p.K4816* Nonsense 66/72 - 1
1-215822008-C-A c.14444G>T p.S4815I Missense 66/72 - 1
1-215822018-T-A c.14434A>T p.N4812Y Missense 66/72 - 1
1-215822026-G-A c.14426C>T p.T4809I Missense 66/72 - 7
1-215822028-G-T c.14424C>A p.C4808* Nonsense 66/72 - 1
1-215822030-A-G c.14422T>C p.C4808R Missense 66/72 - 1
1-215822033-C-T c.14419G>A p.A4807T Missense 66/72 - 3
1-215822039-C-T c.14413G>A p.V4805I Missense 66/72 - 1
1-215822041-C-T c.14411G>A p.G4804E Missense 66/72 - 1
1-215822045-T-C c.14407A>G p.I4803V Missense 66/72 - 1
1-215822047-G-A c.14405C>T p.S4802F Missense 66/72 - 1
1-215822047-G-T c.14405C>A p.S4802Y Missense 66/72 - 1
1-215822048-A-G c.14404T>C p.S4802P Missense 66/72 - 2
1-215822048-A-C c.14404T>G p.S4802A Missense 66/72 - 1
1-215822049-G-T c.14403C>A p.Y4801* Nonsense 66/72 - 1
1-215822049-G-C c.14403C>G p.Y4801* Nonsense 66/72 - 1
1-215822047-GAGT-G c.14402_14404del p.Y4801del InFrameDeletion 66/72 - 1
1-215822054-T-C c.14398A>G p.N4800D Missense 66/72 - 1
1-215822056-G-A c.14396C>T p.T4799I Missense 66/72 - 1
1-215822059-A-G c.14393T>C p.F4798S Missense 66/72 - 1
1-215822066-G-A c.14386C>T p.Q4796* Nonsense 66/72 - 1
1-215822068-A-C c.14384T>G p.L4795R Missense 66/72 - 2
1-215822071-C-T c.14381G>A p.G4794D Missense 66/72 - 1
1-215822072-C-T c.14380G>A p.G4794S Missense 66/72 - 1
1-215822074-T-C c.14378A>G p.H4793R Missense 66/72 - 1
1-215822074-T-G c.14378A>C p.H4793P Missense 66/72 - 1
1-215822075-G-A c.14377C>T p.H4793Y Missense 66/72 - 1
1-215822080-G-T c.14372C>A p.T4791N Missense 66/72 - 1
1-215822083-T-G c.14369A>C p.Q4790P Missense 66/72 - 1
1-215822084-G-T c.14368C>A p.Q4790K Missense 66/72 - 1
1-215822089-G-A c.14363C>T p.T4788I Missense 66/72 - 1
1-215822093-C-G c.14359G>C p.A4787P Missense 66/72 - 1
1-215822098-C-A c.14354G>T p.G4785V Missense 66/72 - 2
1-215822098-C-T c.14354G>A p.G4785D Missense 66/72 - 1
1-215822102-C-T c.14350G>A p.E4784K Missense 66/72 - 2
1-215822102-C-A c.14350G>T p.E4784* Nonsense 66/72 - 1
1-215823898-G-C c.14343+36C>G - IntronicSNV - 65/71 1
1-215823938-G-C c.14339C>G p.T4780R Missense 65/72 - 1
1-215823939-T-C c.14338A>G p.T4780A Missense 65/72 - 1
1-215823942-C-T c.14335G>A p.E4779K Missense 65/72 - 1
1-215823944-G-T c.14333C>A p.A4778D Missense 65/72 - 2
1-215823946-C-A c.14331G>T p.G4777= Synonymous 65/72 - 1
1-215823946-C-T c.14331G>A p.G4777= Synonymous 65/72 - 1
1-215823946-C-G c.14331G>C p.G4777= Synonymous 65/72 - 1
1-215823948-C-T c.14329G>A p.G4777R Missense 65/72 - 1
1-215823953-G-T c.14324C>A p.A4775D Missense 65/72 - 1
1-215823954-C-A c.14323G>T p.A4775S Missense 65/72 - 1
1-215823954-C-T c.14323G>A p.A4775T Missense 65/72 - 1
1-215823955-G-A c.14322C>T p.S4774= Synonymous 65/72 - 1
1-215823955-G-T c.14322C>A p.S4774R Missense 65/72 - 1
1-215823962-G-A c.14315C>T p.S4772F Missense 65/72 - 2
1-215823974-T-G c.14303A>C p.Y4768S Missense 65/72 - 1
1-215823983-A-G c.14294T>C p.V4765A Missense 65/72 - 1
1-215823984-C-T c.14293G>A p.V4765I Missense 65/72 - 1
1-215823989-C-A c.14288G>T p.G4763V Missense 65/72 - 1
1-215823990-C-T c.14287G>A p.G4763R Missense 65/72 - 7
1-215823990-C-G c.14287G>C p.G4763R Missense 65/72 - 1
1-215823991-G-T c.14286C>A p.N4762K Missense 65/72 - 3
1-215823991-G-A c.14286C>T p.N4762= Synonymous 65/72 - 2
1-215823992-T-C c.14285A>G p.N4762S Missense 65/72 - 2
1-215824001-C-T c.14276G>A p.G4759E Missense 65/72 - 4
1-215824002-C-T c.14275G>A p.G4759R Missense 65/72 - 1
1-215824005-G-T c.14272C>A p.P4758T Missense 65/72 - 1
1-215824007-G-A c.14270C>T p.A4757V Missense 65/72 - 1
1-215824008-C-A c.14269G>T p.A4757S Missense 65/72 - 1
1-215824010-C-T c.14267G>A p.S4756N Missense 65/72 - 1
1-215824016-T-G c.14261A>C p.N4754T Missense 65/72 - 1
1-215824022-A-C c.14255T>G p.V4752G Missense 65/72 - 1
1-215824023-C-G c.14254G>C p.V4752L Missense 65/72 - 1
1-215824023-C-T c.14254G>A p.V4752M Missense 65/72 - 1
1-215824028-T-C c.14249A>G p.Q4750R Missense 65/72 - 1
1-215824029-G-A c.14248C>T p.Q4750* Nonsense 65/72 - 1
1-215824034-G-A c.14243C>T p.S4748F Missense 65/72 - 3
1-215824037-G-A c.14240C>T p.S4747F Missense 65/72 - 1
1-215824037-G-C c.14240C>G p.S4747C Missense 65/72 - 1
1-215824044-C-A c.14233G>T p.V4745L Missense 65/72 - 1
1-215824046-T-C c.14231A>G p.H4744R Missense 65/72 - 1
1-215824046-T-G c.14231A>C p.H4744P Missense 65/72 - 1
1-215824051-C-T c.14226G>A p.T4742= Synonymous 65/72 - 1
1-215824051-C-A c.14226G>T p.T4742= Synonymous 65/72 - 1
1-215824051-C-G c.14226G>C p.T4742= Synonymous 65/72 - 1
1-215824052-G-A c.14225C>T p.T4742M Missense 65/72 - 1
1-215824052-G-C c.14225C>G p.T4742R Missense 65/72 - 1
1-215824058-G-T c.14219C>A p.A4740D Missense 65/72 - 5
1-215824059-C-T c.14218G>A p.A4740T Missense 65/72 - 1
1-215824060-T-A c.14217A>T p.R4739S Missense 65/72 - 1
1-215824067-C-A c.14210G>T p.G4737V Missense 65/72 - 1
1-215824073-G-C c.14204C>G p.P4735R Missense 65/72 - 1
1-215824076-G-A c.14201C>T p.P4734L Missense 65/72 - 1
1-215824076-G-T c.14201C>A p.P4734Q Missense 65/72 - 1
1-215824080-C-A c.14197G>T p.A4733S Missense 65/72 - 1
1-215824082-G-C c.14195C>G p.P4732R Missense 65/72 - 1
1-215824083-G-A c.14194C>T p.P4732S Missense 65/72 - 1
1-215824083-G-T c.14194C>A p.P4732T Missense 65/72 - 1
1-215824086-C-A c.14191G>T p.G4731W Missense 65/72 - 1
1-215824086-C-G c.14191G>C p.G4731R Missense 65/72 - 1
1-215824086-C-T c.14191G>A p.G4731R Missense 65/72 - 1
1-215824097-C-T c.14180G>A p.W4727* Nonsense 65/72 - 2
1-215824098-A-G c.14179T>C p.W4727R Missense 65/72 - 1
1-215824100-G-A c.14177C>T p.T4726I Missense 65/72 - 1
1-215824103-C-T c.14174G>A p.W4725* Nonsense 65/72 - 3
1-215824102-C-T c.14175G>A p.W4725* Nonsense 65/72 - 3
1-215824110-T-C c.14167A>G p.S4723G Missense 65/72 - 1
1-215824112-G-C c.14165C>G p.P4722R Missense 65/72 - 1
1-215824112-G-T c.14165C>A p.P4722H Missense 65/72 - 1
1-215824113-G-A c.14164C>T p.P4722S Missense 65/72 - 1
1-215824115-G-A c.14162C>T p.A4721V Missense 65/72 - 1
1-215824115-G-T c.14162C>A p.A4721D Missense 65/72 - 1
1-215824124-G-T c.14153C>A p.A4718E Missense 65/72 - 1
1-215824125-C-A c.14152G>T p.A4718S Missense 65/72 - 1
1-215824125-C-G c.14152G>C p.A4718P Missense 65/72 - 1
1-215824133-A-G c.14144T>C p.V4715A Missense 65/72 - 1
1-215824137-C-A c.14140G>T p.A4714S Missense 65/72 - 3
1-215824139-C-T c.14138G>A p.W4713* Nonsense 65/72 - 1
1-215824138-C-T c.14139G>A p.W4713* Nonsense 65/72 - 1
1-215844312-A-T c.14133+2T>A - IntronicSNV - 64/71 1
1-215844316-G-A c.14131C>T p.Q4711* Nonsense 64/72 - 4
1-215844324-T-C c.14123A>G p.Y4708C Missense 64/72 - 1
1-215844334-A-G c.14113T>C p.F4705L Missense 64/72 - 1
1-215844339-A-G c.14108T>C p.L4703S Missense 64/72 - 1
1-215844346-C-T c.14101G>A p.E4701K Missense 64/72 - 1
1-215844355-TA-T c.14091del p.F4697Lfs*2 Frameshift 64/72 - 2
1-215844361-A-G c.14086T>C p.S4696P Missense 64/72 - 1
1-215844365-T-A c.14082A>T p.S4694= Synonymous 64/72 - 1
1-215844365-T-C c.14082A>G p.S4694= Synonymous 64/72 - 1
1-215844365-T-G c.14082A>C p.S4694= Synonymous 64/72 - 1
1-215844373-C-T c.14074G>A p.G4692R Missense 64/72 - 9
1-215844373-C-A c.14074G>T p.G4692* Nonsense 64/72 - 1
1-215844378-T-C c.14069A>G p.Y4690C Missense 64/72 - 1
1-215844378-T-G c.14069A>C p.Y4690S Missense 64/72 - 1
1-215844382-T-A c.14065A>T p.I4689F Missense 64/72 - 1
1-215844382-T-C c.14065A>G p.I4689V Missense 64/72 - 1
1-215844385-AGGACTGGATTGGATTTTCTAGGCTGAGTTGCTATTTGTCTTCTGTATAATTCG-A c.14010_14062del p.E4671Nfs*3 Frameshift 64/72 - 1
1-215844390-G-T c.14057C>A p.P4686Q Missense 64/72 - 1
1-215844393-T-A c.14054A>T p.N4685I Missense 64/72 - 1
1-215844393-T-C c.14054A>G p.N4685S Missense 64/72 - 1
1-215844396-G-A c.14051C>T p.S4684F Missense 64/72 - 1
1-215844397-A-G c.14050T>C p.S4684P Missense 64/72 - 1
1-215844403-T-C c.14044A>G p.R4682G Missense 64/72 - 1
1-215844406-G-T c.14041C>A p.P4681T Missense 64/72 - 1
1-215844411-G-T c.14036C>A p.T4679N Missense 64/72 - 1
1-215844414-G-A c.14033C>T p.A4678V Missense 64/72 - 1
1-215844414-G-C c.14033C>G p.A4678G Missense 64/72 - 1
1-215844415-C-CT c.14031dup p.A4678Sfs*5 Frameshift 64/72 - 1
1-215844417-A-G c.14030T>C p.I4677T Missense 64/72 - 1
1-215844420-T-C c.14027A>G p.Q4676R Missense 64/72 - 1
1-215844423-C-T c.14024G>A p.R4675K Missense 64/72 - 1
1-215844427-T-C c.14020A>G p.R4674G Missense 64/72 - 1
1-215844430-A-G c.14017T>C p.Y4673H Missense 64/72 - 5
1-215844436-C-T c.14011G>A p.E4671K Missense 64/72 - 2
1-215844436-C-A c.14011G>T p.E4671* Nonsense 64/72 - 3
1-215844441-T-C c.14006A>G p.Y4669C Missense 64/72 - 1
1-215844443-AC-A c.14004del p.L4668Ffs*10 Frameshift 64/72 - 1
1-215844454-C-G c.13993G>C p.G4665R Missense 64/72 - 1
1-215844454-C-T c.13993G>A p.G4665R Missense 64/72 - 1
1-215844463-G-C c.13984C>G p.Q4662E Missense 64/72 - 4
1-215844465-A-T c.13982T>A p.L4661Q Missense 64/72 - 1
1-215844468-G-A c.13979C>T p.P4660L Missense 64/72 - 3
1-215844468-G-C c.13979C>G p.P4660R Missense 64/72 - 2
1-215844468-G-T c.13979C>A p.P4660Q Missense 64/72 - 1
1-215844471-C-T c.13976G>A p.G4659E Missense 64/72 - 1
1-215844487-A-T c.13960T>A p.S4654T Missense 64/72 - 1
1-215844490-C-T c.13957G>A p.V4653I Missense 64/72 - 1
1-215844492-G-T c.13955C>A p.T4652N Missense 64/72 - 1
1-215844496-G-C c.13951C>G p.P4651A Missense 64/72 - 2
1-215844504-C-T c.13943G>A p.G4648E Missense 64/72 - 1
1-215844504-CC-A c.13942_13943delinsT p.G4648Yfs*30 Frameshift 64/72 - 1
1-215844503-TC-T c.13943del p.G4648Dfs*30 Frameshift 64/72 - 1
1-215844508-C-T c.13939G>A p.G4647R Missense 64/72 - 1
1-215844508-C-G c.13939G>C p.G4647R Missense 64/72 - 2
1-215844511-G-T c.13936C>A p.P4646T Missense 64/72 - 1
1-215844520-G-GT c.13926dup p.Q4643Tfs*40 Frameshift 64/72 - 1
1-215844532-G-A c.13915C>T p.H4639Y Missense 64/72 - 1
1-215844532-G-T c.13915C>A p.H4639N Missense 64/72 - 1
1-215844538-G-A c.13909C>T p.P4637S Missense 64/72 - 1
1-215844540-G-A c.13907C>T p.P4636L Missense 64/72 - 1
1-215844540-G-T c.13907C>A p.P4636H Missense 64/72 - 1
1-215844541-G-A c.13906C>T p.P4636S Missense 64/72 - 1
1-215844541-G-T c.13906C>A p.P4636T Missense 64/72 - 1
1-215844548-CA-C c.13898del p.L4633* Frameshift 64/72 - 1
1-215844553-G-A c.13894C>T p.P4632S Missense 64/72 - 3
1-215844553-G-C c.13894C>G p.P4632A Missense 64/72 - 1
1-215844556-C-T c.13891G>A p.A4631T Missense 64/72 - 1
1-215844557-A-C c.13890T>G p.I4630M Missense 64/72 - 1
1-215844559-T-C c.13888A>G p.I4630V Missense 64/72 - 1
1-215844560-C-A c.13887G>T p.E4629D Missense 64/72 - 1
1-215844561-T-C c.13886A>G p.E4629G Missense 64/72 - 1
1-215844562-C-T c.13885G>A p.E4629K Missense 64/72 - 1
1-215844564-G-A c.13883C>T p.P4628L Missense 64/72 - 1
1-215844567-G-T c.13880C>A p.T4627N Missense 64/72 - 1
1-215844577-A-C c.13870T>G p.F4624V Missense 64/72 - 1
1-215844584-G-C c.13863C>G p.D4621E Missense 64/72 - 1
1-215844584-G-T c.13863C>A p.D4621E Missense 64/72 - 1
1-215844586-C-T c.13861G>A p.D4621N Missense 64/72 - 1
1-215844589-T-G c.13858A>C p.S4620R Missense 64/72 - 1
1-215844590-T-A c.13857A>T p.S4619= Synonymous 64/72 - 1
1-215844590-T-C c.13857A>G p.S4619= Synonymous 64/72 - 1
1-215844590-T-G c.13857A>C p.S4619= Synonymous 64/72 - 1
1-215844594-G-A c.13853C>T p.A4618V Missense 64/72 - 1
1-215844600-C-A c.13847G>T p.G4616V Missense 64/72 - 3
1-215844611-G-C c.13836C>G p.C4612W Missense 64/72 - 1
1-215844615-G-A c.13832C>T p.A4611V Missense 64/72 - 1
1-215844615-G-C c.13832C>G p.A4611G Missense 64/72 - 1
1-215844615-G-T c.13832C>A p.A4611E Missense 64/72 - 1
1-215844624-C-T c.13823G>A p.R4608Q Missense 64/72 - 1
1-215844625-G-A c.13822C>T p.R4608* Nonsense 64/72 - 7
1-215844627-A-T c.13820T>A p.I4607K Missense 64/72 - 1
1-215844629-T-A c.13818A>T p.E4606D Missense 64/72 - 1
1-215847397-G-T c.13811+45C>A - IntronicSNV - 63/71 1
1-215847440-A-C c.13811+2T>G - IntronicSNV - 63/71 2
1-215847445-T-G c.13808A>C p.H4603P Missense 63/72 - 2
1-215847448-A-G c.13805T>C p.F4602S Missense 63/72 - 1
1-215847449-A-G c.13804T>C p.F4602L Missense 63/72 - 1
1-215847452-G-A c.13801C>T p.P4601S Missense 63/72 - 1
1-215847452-G-T c.13801C>A p.P4601T Missense 63/72 - 1
1-215847461-G-A c.13792C>T p.Q4598* Nonsense 63/72 - 1
1-215847463-T-C c.13790A>G p.N4597S Missense 63/72 - 1
1-215847466-A-G c.13787T>C p.V4596A Missense 63/72 - 1
1-215847467-C-T c.13786G>A p.V4596I Missense 63/72 - 1
1-215847472-T-C c.13781A>G p.Y4594C Missense 63/72 - 1
1-215847474-T-A c.13779A>T p.S4593= Synonymous 63/72 - 1
1-215847474-T-C c.13779A>G p.S4593= Synonymous 63/72 - 1
1-215847474-T-G c.13779A>C p.S4593= Synonymous 63/72 - 1
1-215847474-T-TAA c.13778_13779insTT p.V4596* Nonsense 63/72 - 1
1-215847477-C-G c.13776G>C p.Q4592H Missense 63/72 - 1
1-215847478-T-C c.13775A>G p.Q4592R Missense 63/72 - 1
1-215847480-C-T c.13773G>A p.M4591I Missense 63/72 - 1
1-215847481-A-G c.13772T>C p.M4591T Missense 63/72 - 1
1-215847482-T-C c.13771A>G p.M4591V Missense 63/72 - 1
1-215847485-C-T c.13768G>A p.G4590S Missense 63/72 - 1
1-215847490-G-T c.13763C>A p.S4588Y Missense 63/72 - 2
1-215847493-T-A c.13760A>T p.N4587I Missense 63/72 - 1
1-215847497-G-A c.13756C>T p.H4586Y Missense 63/72 - 1
1-215847497-G-T c.13756C>A p.H4586N Missense 63/72 - 1
1-215847502-G-A c.13751C>T p.T4584I Missense 63/72 - 1
1-215847508-TA-T c.13745del p.I4582Kfs*14 Frameshift 63/72 - 1
1-215847509-TGTGTATGATTTTA-T c.13731_13743del p.K4578* Frameshift 63/72 - 1
1-215847513-T-C c.13740A>G p.I4580M Missense 63/72 - 1
1-215847515-T-A c.13738A>T p.I4580L Missense 63/72 - 1
1-215847518-T-C c.13735A>G p.I4579V Missense 63/72 - 1
1-215847521-T-C c.13732A>G p.K4578E Missense 63/72 - 2
1-215847527-C-G c.13726G>C p.E4576Q Missense 63/72 - 1
1-215847533-C-T c.13720G>A p.E4574K Missense 63/72 - 1
1-215847534-A-C c.13719T>G p.F4573L Missense 63/72 - 1
1-215847534-A-G c.13719T>C p.F4573= Synonymous 63/72 - 1
1-215847536-A-G c.13717T>C p.F4573L Missense 63/72 - 1
1-215847542-C-T c.13711G>A p.E4571K Missense 63/72 - 3
1-215847542-C-A c.13711G>T p.E4571* Nonsense 63/72 - 1
1-215847544-C-T c.13709G>A p.R4570H Missense 63/72 - 3
1-215847544-C-G c.13709G>C p.R4570P Missense 63/72 - 1
1-215847545-G-A c.13708C>T p.R4570C Missense 63/72 - 2
1-215847548-T-A c.13705A>T p.I4569F Missense 63/72 - 1
1-215847553-A-C c.13700T>G p.L4567R Missense 63/72 - 1
1-215847554-G-C c.13699C>G p.L4567V Missense 63/72 - 1
1-215847559-T-C c.13694A>G p.Y4565C Missense 63/72 - 1
1-215847561-A-T c.13692T>A p.N4564K Missense 63/72 - 1
1-215847562-T-C c.13691A>G p.N4564S Missense 63/72 - 1
1-215847565-A-G c.13688T>C p.I4563T Missense 63/72 - 1
1-215847569-T-C c.13684A>G p.I4562V Missense 63/72 - 1
1-215847574-C-G c.13679G>C p.G4560A Missense 63/72 - 1
1-215847574-C-T c.13679G>A p.G4560D Missense 63/72 - 1
1-215847580-G-T c.13673C>A p.T4558K Missense 63/72 - 1
1-215847580-G-A c.13673C>T p.T4558I Missense 63/72 - 1
1-215847585-C-T c.13668G>A p.V4556= Synonymous 63/72 - 1
1-215847585-C-G c.13668G>C p.V4556= Synonymous 63/72 - 1
1-215847585-C-A c.13668G>T p.V4556= Synonymous 63/72 - 1
1-215847589-G-A c.13664C>T p.P4555L Missense 63/72 - 2
1-215847595-T-C c.13658A>G p.D4553G Missense 63/72 - 1
1-215847600-G-T c.13653C>A p.N4551K Missense 63/72 - 1
1-215847604-A-C c.13649T>G p.V4550G Missense 63/72 - 1
1-215847614-C-A c.13639G>T p.E4547* Nonsense 63/72 - 1
1-215847614-C-T c.13639G>A p.E4547K Missense 63/72 - 1
1-215847619-G-C c.13634C>G p.P4545R Missense 63/72 - 1
1-215847622-C-T c.13631G>A p.G4544D Missense 63/72 - 1
1-215847622-C-A c.13631G>T p.G4544V Missense 63/72 - 1
1-215847623-C-A c.13630G>T p.G4544C Missense 63/72 - 1
1-215847621-A-AC c.13631dup p.P4545Sfs*17 Frameshift 63/72 - 1
1-215847628-G-A c.13625C>T p.A4542V Missense 63/72 - 1
1-215847629-C-T c.13624G>A p.A4542T Missense 63/72 - 1
1-215847631-T-G c.13622A>C p.Q4541P Missense 63/72 - 1
1-215847632-G-A c.13621C>T p.Q4541* Nonsense 63/72 - 4
1-215847633-C-A c.13620G>T p.L4540F Missense 63/72 - 1
1-215847633-C-T c.13620G>A p.L4540= Synonymous 63/72 - 1
1-215847640-G-A c.13613C>T p.P4538L Missense 63/72 - 1
1-215847644-G-A c.13609C>T p.P4537S Missense 63/72 - 1
1-215847649-A-C c.13604T>G p.M4535R Missense 63/72 - 1
1-215847650-T-A c.13603A>T p.M4535L Missense 63/72 - 1
1-215847655-G-T c.13598C>A p.S4533* Nonsense 63/72 - 1
1-215847655-G-C c.13598C>G p.S4533* Nonsense 63/72 - 1
1-215847656-A-G c.13597T>C p.S4533P Missense 63/72 - 1
1-215847656-A-AG c.13596dup p.S4533Lfs*29 Frameshift 63/72 - 1
1-215847661-G-T c.13592C>A p.A4531E Missense 63/72 - 1
1-215847664-G-A c.13589C>T p.S4530L Missense 63/72 - 1
1-215847667-G-A c.13586C>T p.P4529L Missense 63/72 - 1
1-215847667-G-C c.13586C>G p.P4529R Missense 63/72 - 1
1-215847676-C-A c.13577G>T p.R4526L Missense 63/72 - 1
1-215847676-C-T c.13577G>A p.R4526Q Missense 63/72 - 1
1-215847677-G-A c.13576C>T p.R4526* Nonsense 63/72 - 4
1-215847681-T-G c.13572A>C p.K4524N Missense 63/72 - 1
1-215847683-T-C c.13570A>G p.K4524E Missense 63/72 - 1
1-215847684-G-T c.13569C>A p.V4523= Synonymous 63/72 - 1
1-215847684-G-C c.13569C>G p.V4523= Synonymous 63/72 - 1
1-215847684-G-A c.13569C>T p.V4523= Synonymous 63/72 - 1
1-215847685-A-G c.13568T>C p.V4523A Missense 63/72 - 2
1-215847686-C-A c.13567G>T p.V4523F Missense 63/72 - 1
1-215847686-C-T c.13567G>A p.V4523I Missense 63/72 - 1
1-215847703-C-A c.13550G>T p.G4517V Missense 63/72 - 1
1-215847704-C-G c.13549G>C p.G4517R Missense 63/72 - 1
1-215847706-C-G c.13547G>C p.G4516A Missense 63/72 - 2
1-215847706-C-T c.13547G>A p.G4516E Missense 63/72 - 1
1-215847707-C-A c.13546G>T p.G4516W Missense 63/72 - 1
1-215847712-C-T c.13541G>A p.S4514N Missense 63/72 - 1
1-215847714-GT-G c.13538del p.N4513Tfs*7 Frameshift 63/72 - 1
1-215847719-T-A c.13534A>T p.S4512C Missense 63/72 - 1
1-215847722-C-T c.13531G>A p.A4511T Missense 63/72 - 2
1-215847722-C-A c.13531G>T p.A4511S Missense 63/72 - 1
1-215847727-A-T c.13526T>A p.V4509E Missense 63/72 - 1
1-215847731-T-G c.13522A>C p.T4508P Missense 63/72 - 1
1-215847734-A-G c.13519T>C p.Y4507H Missense 63/72 - 1
1-215847743-C-A c.13510G>T p.E4504* Nonsense 63/72 - 1
1-215847748-C-A c.13505G>T p.G4502V Missense 63/72 - 1
1-215847752-G-C c.13501C>G p.P4501A Missense 63/72 - 1
1-215847754-G-T c.13499C>A p.T4500N Missense 63/72 - 1
1-215847760-G-C c.13493C>G p.T4498S Missense 63/72 - 1
1-215847762-A-T c.13491T>A p.F4497L Missense 63/72 - 1
1-215847763-A-T c.13490T>A p.F4497Y Missense 63/72 - 1
1-215847769-C-A c.13484G>T p.R4495L Missense 63/72 - 1
1-215847769-C-T c.13484G>A p.R4495H Missense 63/72 - 1
1-215847770-G-A c.13483C>T p.R4495C Missense 63/72 - 1
1-215847775-C-T c.13478G>A p.R4493H Missense 63/72 - 2
1-215847776-G-A c.13477C>T p.R4493C Missense 63/72 - 1
1-215847784-A-G c.13469T>C p.L4490S Missense 63/72 - 1
1-215847787-C-T c.13466G>A p.G4489D Missense 63/72 - 1
1-215847788-C-T c.13465G>A p.G4489S Missense 63/72 - 4
1-215847786-G-GC c.13466dup p.E4491Gfs*6 Frameshift 63/72 - 1
1-215847790-G-A c.13463C>T p.T4488I Missense 63/72 - 1
1-215847790-G-T c.13463C>A p.T4488K Missense 63/72 - 1
1-215847793-T-C c.13460A>G p.Y4487C Missense 63/72 - 1
1-215847803-T-C c.13450A>G p.T4484A Missense 63/72 - 1
1-215847805-C-T c.13448G>A p.G4483E Missense 63/72 - 1
1-215847806-C-G c.13447G>C p.G4483R Missense 63/72 - 1
1-215847811-C-T c.13442G>A p.R4481K Missense 63/72 - 1
1-215847813-C-A c.13440G>T p.R4480S Missense 63/72 - 1
1-215847813-C-T c.13440G>A p.R4480= Synonymous 63/72 - 1
1-215847817-A-C c.13436T>G p.L4479R Missense 63/72 - 1
1-215847817-A-G c.13436T>C p.L4479P Missense 63/72 - 1
1-215847821-C-G c.13432G>C p.E4478Q Missense 63/72 - 1
1-215847823-T-TAACTTC c.13424_13429dup p.S4476_Y4477ins* Nonsense 63/72 - 1
1-215847829-C-A c.13424G>T p.R4475I Missense 63/72 - 1
1-215847830-T-C c.13423A>G p.R4475G Missense 63/72 - 1
1-215847830-T-G c.13423A>C p.R4475= Synonymous 63/72 - 1
1-215847844-G-A c.13409C>T p.P4470L Missense 63/72 - 1
1-215847845-G-C c.13408C>G p.P4470A Missense 63/72 - 1
1-215847847-T-C c.13406A>G p.N4469S Missense 63/72 - 1
1-215847857-G-A c.13396C>T p.P4466S Missense 63/72 - 2
1-215847861-C-A c.13392G>T p.W4464C Missense 63/72 - 1
1-215847863-A-G c.13390T>C p.W4464R Missense 63/72 - 1
1-215847866-T-C c.13387A>G p.T4463A Missense 63/72 - 1
1-215847866-T-G c.13387A>C p.T4463P Missense 63/72 - 1
1-215847873-T-C c.13380A>G p.I4460M Missense 63/72 - 1
1-215847875-T-A c.13378A>T p.I4460L Missense 63/72 - 1
1-215847877-G-A c.13376C>T p.S4459L Missense 63/72 - 1
1-215847878-A-G c.13375T>C p.S4459P Missense 63/72 - 1
1-215847878-AT-A c.13374del p.E4458Dfs*3 Frameshift 63/72 - 3
1-215847886-C-G c.13367G>C p.G4456A Missense 63/72 - 1
1-215847889-G-A c.13364C>T p.T4455I Missense 63/72 - 1
1-215847889-G-T c.13364C>A p.T4455K Missense 63/72 - 1
1-215847890-T-C c.13363A>G p.T4455A Missense 63/72 - 1
1-215847892-A-T c.13361T>A p.V4454D Missense 63/72 - 2
1-215847893-C-T c.13360G>A p.V4454I Missense 63/72 - 1
1-215847898-A-G c.13355T>C p.L4452S Missense 63/72 - 1
1-215847901-G-A c.13352C>T p.T4451I Missense 63/72 - 1
1-215847905-G-A c.13348C>T p.P4450S Missense 63/72 - 2
1-215847906-AGAGTCCATGTTC-CAAG c.13335_13347delinsCTTG p.E4445_S4449delinsDL MultiAAMissense 63/72 - 5
1-215847907-GA-AGGTC c.13345_13346delinsGACCT p.S4449delinsDL MultiAAMissense 63/72 - 2
1-215847906-GAGAGTCCATGTTC-G c.13335_13347del p.E4445Dfs*12 Frameshift 63/72 - 1
1-215847910-T-C c.13343A>G p.D4448G Missense 63/72 - 1
1-215847914-T-C c.13339A>G p.M4447V Missense 63/72 - 5
1-215847914-T-A c.13339A>T p.M4447L Missense 63/72 - 1
1-215847915-G-A c.13338C>T p.N4446= Synonymous 63/72 - 1
1-215847915-G-T c.13338C>A p.N4446K Missense 63/72 - 1
1-215847916-T-G c.13337A>C p.N4446T Missense 63/72 - 1
1-215847915-GTTC-G c.13335_13337del p.E4445_N4446delinsD MultiAAMissense 63/72 - 1
1-215847922-G-A c.13331C>T p.P4444L Missense 63/72 - 1
1-215847923-G-T c.13330C>A p.P4444T Missense 63/72 - 1
1-215847935-T-C c.13318A>G p.M4440V Missense 63/72 - 1
1-215847937-G-A c.13316C>T p.T4439I Missense 63/72 - 13
1-215847941-A-G c.13312T>C p.W4438R Missense 63/72 - 1
1-215847946-G-C c.13307C>G p.S4436C Missense 63/72 - 1
1-215847955-A-C c.13298T>G p.V4433G Missense 63/72 - 1
1-215847956-C-A c.13297G>T p.V4433L Missense 63/72 - 5
1-215847958-C-A c.13295G>T p.S4432I Missense 63/72 - 1
1-215847964-G-T c.13289C>A p.T4430K Missense 63/72 - 1
1-215847970-C-A c.13283G>T p.G4428V Missense 63/72 - 1
1-215847970-C-T c.13283G>A p.G4428D Missense 63/72 - 1
1-215847974-C-T c.13279G>A p.G4427R Missense 63/72 - 1
1-215847979-G-A c.13274C>T p.T4425M Missense 63/72 - 5
1-215847979-G-T c.13274C>A p.T4425K Missense 63/72 - 1
1-215847980-T-C c.13273A>G p.T4425A Missense 63/72 - 1
1-215847985-G-T c.13268C>A p.A4423D Missense 63/72 - 1
1-215847986-C-T c.13267G>A p.A4423T Missense 63/72 - 1
1-215847989-CAAGGGAG-C c.13257_13263del p.F4419Lfs*2 Frameshift 63/72 - 1
1-215847994-G-A c.13259C>T p.S4420F Missense 63/72 - 1
1-215847998-A-G c.13255T>C p.F4419L Missense 63/72 - 1
1-215847996-G-T c.13257C>A p.F4419L Missense 63/72 - 1
1-215847996-G-C c.13257C>G p.F4419L Missense 63/72 - 1
1-215848001-T-C c.13252A>G p.N4418D Missense 63/72 - 1
1-215848003-T-C c.13250A>G p.Y4417C Missense 63/72 - 1
1-215848022-G-C c.13231C>G p.L4411V Missense 63/72 - 1
1-215848030-A-G c.13223T>C p.V4408A Missense 63/72 - 1
1-215848031-C-A c.13222G>T p.V4408F Missense 63/72 - 1
1-215848031-C-G c.13222G>C p.V4408L Missense 63/72 - 1
1-215848031-C-T c.13222G>A p.V4408I Missense 63/72 - 1
1-215848036-A-G c.13217T>C p.L4406P Missense 63/72 - 2
1-215848045-C-A c.13208G>T p.G4403V Missense 63/72 - 1
1-215848045-C-T c.13208G>A p.G4403D Missense 63/72 - 1
1-215848044-GCC-G c.13207_13208del p.G4403Pfs*15 Frameshift 63/72 - 1
1-215848051-C-A c.13202G>T p.G4401V Missense 63/72 - 1
1-215848051-C-T c.13202G>A p.G4401D Missense 63/72 - 1
1-215848052-C-A c.13201G>T p.G4401C Missense 63/72 - 1
1-215848055-C-A c.13198G>T p.A4400S Missense 63/72 - 1
1-215848057-AG-A c.13195del p.A4400Lfs*23 Frameshift 63/72 - 1
1-215848060-G-A c.13193C>T p.S4398F Missense 63/72 - 1
1-215848060-G-C c.13193C>G p.S4398C Missense 63/72 - 1
1-215848062-C-T c.13191G>A p.E4397= Synonymous 63/72 - 5
1-215848063-TC-GA c.13189_13190inv p.E4397S Missense 63/72 - 1
1-215848064-C-A c.13189G>T p.E4397* Nonsense 63/72 - 1
1-215848065-T-G c.13188A>C p.K4396N Missense 63/72 - 1
1-215848064-CT-C c.13188del p.E4397Sfs*26 Frameshift 63/72 - 1
1-215848069-T-A c.13184A>T p.N4395I Missense 63/72 - 1
1-215848070-T-A c.13183A>T p.N4395Y Missense 63/72 - 1
1-215848079-T-C c.13174A>G p.R4392G Missense 63/72 - 1
1-215848091-T-C c.13162A>G p.K4388E Missense 63/72 - 1
1-215848094-T-C c.13159A>G p.T4387A Missense 63/72 - 1
1-215848096-A-G c.13157T>C p.I4386T Missense 63/72 - 1
1-215848097-T-A c.13156A>T p.I4386F Missense 63/72 - 1
1-215848098-C-A c.13155G>T p.K4385N Missense 63/72 - 1
1-215848098-C-T c.13155G>A p.K4385= Synonymous 63/72 - 1
1-215848102-C-A c.13151G>T p.G4384V Missense 63/72 - 1
1-215848102-C-T c.13151G>A p.G4384E Missense 63/72 - 1
1-215848104-A-C c.13149T>G p.N4383K Missense 63/72 - 1
1-215848105-T-C c.13148A>G p.N4383S Missense 63/72 - 1
1-215848106-T-C c.13147A>G p.N4383D Missense 63/72 - 1
1-215848113-CT-C c.13140del p.V4381Cfs*10 Frameshift 63/72 - 1
1-215848114-G-A c.13139C>T p.T4380I Missense 63/72 - 1
1-215848120-G-A c.13133C>T p.P4378L Missense 63/72 - 2
1-215848123-G-T c.13130C>A p.S4377* Nonsense 63/72 - 4
1-215848127-A-C c.13126T>G p.W4376G Missense 63/72 - 1
1-215848127-A-G c.13126T>C p.W4376R Missense 63/72 - 1
1-215848132-A-T c.13121T>A p.V4374E Missense 63/72 - 1
1-215848133-C-T c.13120G>A p.V4374I Missense 63/72 - 1
1-215848134-A-C c.13119T>G p.N4373K Missense 63/72 - 1
1-215848138-CATTT-C c.13112_13115del p.Q4371Rfs*19 Frameshift 63/72 - 2
1-215848141-T-C c.13112A>G p.Q4371R Missense 63/72 - 1
1-215848148-C-T c.13105G>A p.A4369T Missense 63/72 - 1
1-215848150-C-CT c.13102dup p.S4368Kfs*21 Frameshift 63/72 - 1
1-215848154-C-T c.13099G>A p.V4367I Missense 63/72 - 1
1-215848156-G-A c.13097C>T p.A4366V Missense 63/72 - 1
1-215848157-C-T c.13096G>A p.A4366T Missense 63/72 - 1
1-215848159-C-A c.13094G>T p.W4365L Missense 63/72 - 1
1-215848159-C-T c.13094G>A p.W4365* Nonsense 63/72 - 2
1-215848163-G-C c.13090C>G p.L4364V Missense 63/72 - 1
1-215848169-G-A c.13084C>T p.P4362S Missense 63/72 - 1
1-215848172-G-A c.13081C>T p.P4361S Missense 63/72 - 1
1-215848178-C-T c.13075G>A p.V4359I Missense 63/72 - 1
1-215848191-AGCCTCCAGAGTTGTGATGCTGG-TGACTTCTGA c.13040_13062delinsTCAGAAGTCA p.T4347Ifs*22 Frameshift 63/72 - 1
1-215848191-CAGCCTCCAGAGTTGTGATGCTGG-C c.13040_13062del p.T4347Sfs*34 Frameshift 63/72 - 1
1-215848189-GCAGC-G c.13060_13063del p.A4354Lfs*18 Frameshift 63/72 - 1
1-215848192-G-A c.13061C>T p.A4354V Missense 63/72 - 1
1-215848193-C-A c.13060G>T p.A4354S Missense 63/72 - 1
1-215848201-G-A c.13052C>T p.T4351I Missense 63/72 - 1
1-215848201-G-T c.13052C>A p.T4351N Missense 63/72 - 1
1-215848202-T-A c.13051A>T p.T4351S Missense 63/72 - 1
1-215848202-T-C c.13051A>G p.T4351A Missense 63/72 - 1
1-215848204-G-T c.13049C>A p.T4350K Missense 63/72 - 1
1-215848207-A-AC c.13045_13046insG p.I4349Sfs*40 Frameshift 63/72 - 1
1-215848209-G-T c.13044C>A p.S4348R Missense 63/72 - 1
1-215848211-T-C c.13042A>G p.S4348G Missense 63/72 - 1
1-215848213-G-A c.13040C>T p.T4347I Missense 63/72 - 1
1-215848214-T-C c.13039A>G p.T4347A Missense 63/72 - 1
1-215848225-G-A c.13028C>T p.T4343I Missense 63/72 - 1
1-215848231-C-A c.13022G>T p.C4341F Missense 63/72 - 1
1-215848234-C-A c.13019G>T p.G4340V Missense 63/72 - 1
1-215848234-C-T c.13019G>A p.G4340E Missense 63/72 - 1
1-215848235-C-G c.13018G>C p.G4340R Missense 63/72 - 3
1-215848236-TC-T c.13016del p.G4339Efs*34 Frameshift 63/72 - 1
1-215848243-G-A c.13010C>T p.T4337M Missense 63/72 - 15
1-215848243-G-C c.13010C>G p.T4337R Missense 63/72 - 2
1-215848246-C-T c.13007G>A p.C4336Y Missense 63/72 - 2
1-215848249-G-A c.13004C>T p.A4335V Missense 63/72 - 1
1-215848249-G-T c.13004C>A p.A4335D Missense 63/72 - 1
1-215848253-G-A c.13000C>T p.Q4334* Nonsense 63/72 - 1
1-215848253-G-T c.13000C>A p.Q4334K Missense 63/72 - 1
1-215848256-G-C c.12997C>G p.L4333V Missense 63/72 - 1
1-215848258-G-A c.12995C>T p.A4332V Missense 63/72 - 1
1-215848263-G-T c.12990C>A p.S4330R Missense 63/72 - 1
1-215848265-T-C c.12988A>G p.S4330G Missense 63/72 - 1
1-215848267-T-C c.12986A>G p.Y4329C Missense 63/72 - 1
1-215848268-A-G c.12985T>C p.Y4329H Missense 63/72 - 1
1-215848270-G-A c.12983C>T p.T4328I Missense 63/72 - 1
1-215848274-A-C c.12979T>G p.S4327A Missense 63/72 - 1
1-215848276-A-T c.12977T>A p.F4326Y Missense 63/72 - 1
1-215848279-G-A c.12974C>T p.P4325L Missense 63/72 - 1
1-215848279-G-C c.12974C>G p.P4325R Missense 63/72 - 1
1-215848286-G-A c.12967C>T p.L4323F Missense 63/72 - 1
1-215848291-T-C c.12962A>G p.E4321G Missense 63/72 - 1
1-215848295-C-G c.12958G>C p.D4320H Missense 63/72 - 1
1-215848297-G-C c.12956C>G p.T4319S Missense 63/72 - 1
1-215848299-G-T c.12954C>A p.Y4318* Nonsense 63/72 - 2
1-215848300-T-A c.12953A>T p.Y4318F Missense 63/72 - 1
1-215848309-G-A c.12944C>T p.T4315I Missense 63/72 - 1
1-215848312-A-G c.12941T>C p.V4314A Missense 63/72 - 1
1-215848313-C-T c.12940G>A p.V4314M Missense 63/72 - 1
1-215848313-C-CAGCTAAA c.12939_12940insTTTAGCT p.V4314Ffs*9 Frameshift 63/72 - 1
1-215848317-A-T c.12936T>A p.D4312E Missense 63/72 - 1
1-215848318-T-A c.12935A>T p.D4312V Missense 63/72 - 1
1-215848324-C-T c.12929G>A p.S4310N Missense 63/72 - 1
1-215848330-G-A c.12923C>T p.P4308L Missense 63/72 - 1
1-215848330-G-T c.12923C>A p.P4308H Missense 63/72 - 1
1-215848331-G-T c.12922C>A p.P4308T Missense 63/72 - 1
1-215848333-T-C c.12920A>G p.Y4307C Missense 63/72 - 1
1-215848334-A-G c.12919T>C p.Y4307H Missense 63/72 - 1
1-215848337-G-A c.12916C>T p.L4306F Missense 63/72 - 1
1-215848339-A-G c.12914T>C p.M4305T Missense 63/72 - 1
1-215848356-C-A c.12897G>T p.R4299S Missense 63/72 - 1
1-215848363-G-A c.12890C>T p.S4297F Missense 63/72 - 1
1-215848370-T-C c.12883A>G p.I4295V Missense 63/72 - 2
1-215848372-A-G c.12881T>C p.I4294T Missense 63/72 - 1
1-215848373-T-G c.12880A>C p.I4294L Missense 63/72 - 1
1-215848373-AT-A c.12880del p.I4294Lfs*21 Frameshift 63/72 - 1
1-215848376-C-T c.12877G>A p.G4293S Missense 63/72 - 1
1-215848379-T-C c.12874A>G p.N4292D Missense 63/72 - 3
1-215848381-G-C c.12872C>G p.S4291C Missense 63/72 - 1
1-215848381-G-T c.12872C>A p.S4291Y Missense 63/72 - 1
1-215848384-T-A c.12869A>T p.Q4290L Missense 63/72 - 1
1-215848390-G-A c.12863C>T p.P4288L Missense 63/72 - 1
1-215848389-TGGTGG-T c.12859_12863del p.P4287Rfs*4 Frameshift 63/72 - 1
1-215848405-A-C c.12848T>G p.I4283S Missense 63/72 - 1
1-215848406-T-C c.12847A>G p.I4283V Missense 63/72 - 1
1-215848417-T-G c.12836A>C p.Q4279P Missense 63/72 - 1
1-215848425-C-T c.12828G>A p.M4276I Missense 63/72 - 1
1-215848426-A-G c.12827T>C p.M4276T Missense 63/72 - 1
1-215848427-T-C c.12826A>G p.M4276V Missense 63/72 - 1
1-215848429-G-C c.12824C>G p.S4275C Missense 63/72 - 1
1-215848430-A-T c.12823T>A p.S4275T Missense 63/72 - 2
1-215848433-C-T c.12820G>A p.V4274I Missense 63/72 - 1
1-215848434-A-T c.12819T>A p.Y4273* Nonsense 63/72 - 2
1-215848435-T-C c.12818A>G p.Y4273C Missense 63/72 - 1
1-215848436-A-G c.12817T>C p.Y4273H Missense 63/72 - 1
1-215848438-G-A c.12815C>T p.S4272F Missense 63/72 - 1
1-215848442-T-C c.12811A>G p.I4271V Missense 63/72 - 1
1-215848447-G-C c.12806C>G p.P4269R Missense 63/72 - 1
1-215848448-G-A c.12805C>T p.P4269S Missense 63/72 - 1
1-215848451-G-T c.12802C>A p.P4268T Missense 63/72 - 1
1-215848457-G-A c.12796C>T p.L4266F Missense 63/72 - 1
1-215848459-C-A c.12794G>T p.G4265V Missense 63/72 - 1
1-215848459-C-T c.12794G>A p.G4265D Missense 63/72 - 1
1-215848463-C-A c.12790G>T p.E4264* Nonsense 63/72 - 1
1-215848463-C-T c.12790G>A p.E4264K Missense 63/72 - 1
1-215848470-T-G c.12783A>C p.A4261= Synonymous 63/72 - 1
1-215848470-T-C c.12783A>G p.A4261= Synonymous 63/72 - 1
1-215848470-T-A c.12783A>T p.A4261= Synonymous 63/72 - 1
1-215848480-G-T c.12773C>A p.T4258K Missense 63/72 - 1
1-215848481-T-G c.12772A>C p.T4258P Missense 63/72 - 1
1-215848482-C-G c.12771G>C p.R4257S Missense 63/72 - 1
1-215848487-C-A c.12766G>T p.V4256L Missense 63/72 - 1
1-215848487-C-T c.12766G>A p.V4256M Missense 63/72 - 1
1-215848495-C-G c.12758G>C p.W4253S Missense 63/72 - 1
1-215848498-G-A c.12755C>T p.S4252F Missense 63/72 - 1
1-215848507-G-A c.12746C>T p.T4249I Missense 63/72 - 1
1-215848510-T-C c.12743A>G p.H4248R Missense 63/72 - 2
1-215848510-T-A c.12743A>T p.H4248L Missense 63/72 - 1
1-215848510-T-G c.12743A>C p.H4248P Missense 63/72 - 1
1-215848511-G-T c.12742C>A p.H4248N Missense 63/72 - 1
1-215848514-C-T c.12739G>A p.G4247R Missense 63/72 - 1
1-215848516-G-A c.12737C>T p.A4246V Missense 63/72 - 1
1-215848517-C-A c.12736G>T p.A4246S Missense 63/72 - 1
1-215848524-C-T c.12729G>A p.W4243* Nonsense 63/72 - 2
1-215848528-G-A c.12725C>T p.T4242I Missense 63/72 - 1
1-215848529-T-C c.12724A>G p.T4242A Missense 63/72 - 1
1-215848539-A-T c.12714T>A p.Y4238* Nonsense 63/72 - 2
1-215848539-A-C c.12714T>G p.Y4238* Nonsense 63/72 - 3
1-215848552-G-A c.12701C>T p.T4234M Missense 63/72 - 1
1-215848552-G-C c.12701C>G p.T4234R Missense 63/72 - 1
1-215848552-G-T c.12701C>A p.T4234K Missense 63/72 - 1
1-215848553-T-C c.12700A>G p.T4234A Missense 63/72 - 1
1-215848553-T-G c.12700A>C p.T4234P Missense 63/72 - 1
1-215848552-GTCCATGGT-G c.12693_12700del p.Q4231Hfs*4 Frameshift 63/72 - 1
1-215848555-CCA-C c.12697_12698del p.W4233Dfs*4 Frameshift 63/72 - 1
1-215848556-A-G c.12697T>C p.W4233R Missense 63/72 - 1
1-215848558-G-A c.12695C>T p.P4232L Missense 63/72 - 1
1-215848558-G-C c.12695C>G p.P4232R Missense 63/72 - 1
1-215848558-G-T c.12695C>A p.P4232Q Missense 63/72 - 1
1-215848561-T-C c.12692A>G p.Q4231R Missense 63/72 - 1
1-215848568-C-T c.12685G>A p.G4229S Missense 63/72 - 1
1-215848570-G-A c.12683C>T p.T4228I Missense 63/72 - 1
1-215848573-T-A c.12680A>T p.D4227V Missense 63/72 - 1
1-215848574-CATT-C c.12676_12678del p.N4226del InFrameDeletion 63/72 - 1
1-215848583-T-C c.12670A>G p.M4224V Missense 63/72 - 1
1-215848586-A-G c.12667T>C p.F4223L Missense 63/72 - 1
1-215848587-T-C c.12666A>G p.T4222= Synonymous 63/72 - 5
1-215848588-G-A c.12665C>T p.T4222I Missense 63/72 - 1
1-215848591-T-A c.12662A>T p.N4221I Missense 63/72 - 1
1-215848591-T-C c.12662A>G p.N4221S Missense 63/72 - 1
1-215848592-T-C c.12661A>G p.N4221D Missense 63/72 - 1
1-215848602-G-T c.12651C>A p.N4217K Missense 63/72 - 1
1-215848606-T-C c.12647A>G p.Y4216C Missense 63/72 - 1
1-215848613-T-C c.12640A>G p.T4214A Missense 63/72 - 1
1-215848620-A-C c.12633T>G p.I4211M Missense 63/72 - 1
1-215848627-T-G c.12626A>C p.E4209A Missense 63/72 - 1
1-215848628-C-T c.12625G>A p.E4209K Missense 63/72 - 1
1-215848629-G-A c.12624C>T p.D4208= Synonymous 63/72 - 1
1-215848629-G-T c.12624C>A p.D4208E Missense 63/72 - 1
1-215848631-C-T c.12622G>A p.D4208N Missense 63/72 - 2
1-215848634-C-T c.12619G>A p.A4207T Missense 63/72 - 1
1-215848641-T-A c.12612A>T p.T4204= Synonymous 63/72 - 7
1-215848641-T-C c.12612A>G p.T4204= Synonymous 63/72 - 1
1-215848641-T-G c.12612A>C p.T4204= Synonymous 63/72 - 1
1-215848642-G-A c.12611C>T p.T4204I Missense 63/72 - 2
1-215848645-T-C c.12608A>G p.Q4203R Missense 63/72 - 3
1-215848655-A-C c.12598T>G p.W4200G Missense 63/72 - 1
1-215848656-A-G c.12597T>C p.A4199= Synonymous 63/72 - 1
1-215848657-G-A c.12596C>T p.A4199V Missense 63/72 - 1
1-215848658-C-T c.12595G>A p.A4199T Missense 63/72 - 1
1-215848663-C-T c.12590G>A p.G4197E Missense 63/72 - 1
1-215848664-C-T c.12589G>A p.G4197R Missense 63/72 - 1
1-215848667-C-A c.12586G>T p.E4196* Nonsense 63/72 - 1
1-215848667-C-G c.12586G>C p.E4196Q Missense 63/72 - 1
1-215848667-C-T c.12586G>A p.E4196K Missense 63/72 - 1
1-215848673-A-G c.12580T>C p.C4194R Missense 63/72 - 3
1-215848673-A-T c.12580T>A p.C4194S Missense 63/72 - 1
1-215848678-C-T c.12575G>A p.R4192H Missense 63/72 - 32
1-215848678-C-A c.12575G>T p.R4192L Missense 63/72 - 1
1-215848679-G-A c.12574C>T p.R4192C Missense 63/72 - 15
1-215848684-A-T c.12569T>A p.V4190E Missense 63/72 - 1
1-215848684-A-G c.12569T>C p.V4190A Missense 63/72 - 3
1-215848693-C-T c.12560G>A p.R4187H Missense 63/72 - 3
1-215848693-C-A c.12560G>T p.R4187L Missense 63/72 - 1
1-215848694-G-A c.12559C>T p.R4187C Missense 63/72 - 2
1-215848694-G-T c.12559C>A p.R4187S Missense 63/72 - 1
1-215848695-A-G c.12558T>C p.I4186= Synonymous 63/72 - 1
1-215848696-A-G c.12557T>C p.I4186T Missense 63/72 - 2
1-215848700-T-C c.12553A>G p.I4185V Missense 63/72 - 1
1-215848700-T-G c.12553A>C p.I4185L Missense 63/72 - 1
1-215848707-A-C c.12546T>G p.N4182K Missense 63/72 - 1
1-215848727-A-G c.12526T>C p.S4176P Missense 63/72 - 2
1-215848728-C-G c.12525G>C p.W4175C Missense 63/72 - 1
1-215848728-C-T c.12525G>A p.W4175* Nonsense 63/72 - 1
1-215848730-A-C c.12523T>G p.W4175G Missense 63/72 - 2
1-215848730-A-G c.12523T>C p.W4175R Missense 63/72 - 1
1-215848731-G-C c.12522C>G p.S4174R Missense 63/72 - 2
1-215848739-C-T c.12514G>A p.E4172K Missense 63/72 - 1
1-215848741-A-C c.12512T>G p.V4171G Missense 63/72 - 1
1-215848743-A-C c.12510T>G p.S4170R Missense 63/72 - 1
1-215848748-T-C c.12505A>G p.T4169A Missense 63/72 - 3
1-215848748-T-G c.12505A>C p.T4169P Missense 63/72 - 1
1-215848750-G-T c.12503C>A p.S4168Y Missense 63/72 - 1
1-215848757-C-T c.12496G>A p.V4166M Missense 63/72 - 1
1-215848766-C-T c.12487G>A p.V4163I Missense 63/72 - 1
1-215848774-G-A c.12479C>T p.A4160V Missense 63/72 - 1
1-215848780-T-A c.12473A>T p.Q4158L Missense 63/72 - 1
1-215848795-G-A c.12458C>T p.A4153V Missense 63/72 - 3
1-215848796-GC-G c.12457del p.A4153Pfs*14 Frameshift 63/72 - 3
1-215848796-C-T c.12457G>A p.A4153T Missense 63/72 - 2
1-215848798-T-C c.12455A>G p.E4152G Missense 63/72 - 1
1-215848802-C-G c.12451G>C p.D4151H Missense 63/72 - 1
1-215848805-T-C c.12448A>G p.T4150A Missense 63/72 - 1
1-215848808-A-T c.12445T>A p.W4149R Missense 63/72 - 3
1-215848808-A-G c.12445T>C p.W4149R Missense 63/72 - 4
1-215848810-A-G c.12443T>C p.L4148P Missense 63/72 - 1
1-215848813-G-A c.12440C>T p.P4147L Missense 63/72 - 1
1-215848816-T-C c.12437A>G p.Q4146R Missense 63/72 - 1
1-215848822-G-C c.12431C>G p.A4144G Missense 63/72 - 1
1-215848822-CG-C c.12431del p.A4144Gfs*23 Frameshift 63/72 - 1
1-215848822-G-A c.12431C>T p.A4144V Missense 63/72 - 1
1-215848823-C-T c.12430G>A p.A4144T Missense 63/72 - 1
1-215848825-G-A c.12428C>T p.S4143L Missense 63/72 - 2
1-215848829-G-A c.12424C>T p.H4142Y Missense 63/72 - 1
1-215848832-C-T c.12421G>A p.A4141T Missense 63/72 - 1
1-215848833-A-C c.12420T>G p.C4140W Missense 63/72 - 1
1-215848834-C-A c.12419G>T p.C4140F Missense 63/72 - 1
1-215848834-C-G c.12419G>C p.C4140S Missense 63/72 - 1
1-215848837-C-T c.12416G>A p.G4139D Missense 63/72 - 1
1-215848841-C-T c.12412G>A p.A4138T Missense 63/72 - 1
1-215848844-T-A c.12409A>T p.R4137* Nonsense 63/72 - 1
1-215848844-CT-C c.12409del p.R4137Efs*30 Frameshift 63/72 - 1
1-215848846-G-A c.12407C>T p.T4136I Missense 63/72 - 2
1-215848849-C-A c.12404G>T p.C4135F Missense 63/72 - 1
1-215848852-G-A c.12401C>T p.A4134V Missense 63/72 - 1
1-215848858-A-G c.12395T>C p.L4132P Missense 63/72 - 1
1-215848858-A-T c.12395T>A p.L4132Q Missense 63/72 - 1
1-215848860-G-A c.12393C>T p.T4131= Synonymous 63/72 - 1
1-215848858-AG-A c.12394del p.L4132Wfs*35 Frameshift 63/72 - 1
1-215848861-G-A c.12392C>T p.T4131I Missense 63/72 - 1
1-215848865-G-C c.12388C>G p.L4130V Missense 63/72 - 1
1-215848870-T-C c.12383A>G p.Y4128C Missense 63/72 - 1
1-215848870-TAG-T c.12381_12382del p.Y4128Hfs*24 Frameshift 63/72 - 1
1-215848882-G-C c.12371C>G p.P4124R Missense 63/72 - 2
1-215848882-G-A c.12371C>T p.P4124L Missense 63/72 - 1
1-215848891-C-T c.12362G>A p.R4121H Missense 63/72 - 1
1-215848892-G-A c.12361C>T p.R4121C Missense 63/72 - 2
1-215848892-G-T c.12361C>A p.R4121S Missense 63/72 - 1
1-215848894-C-T c.12359G>A p.R4120H Missense 63/72 - 2
1-215848895-G-A c.12358C>T p.R4120C Missense 63/72 - 2
1-215848897-A-G c.12356T>C p.F4119S Missense 63/72 - 1
1-215848904-A-G c.12349T>C p.F4117L Missense 63/72 - 1
1-215848905-C-G c.12348G>C p.Q4116H Missense 63/72 - 1
1-215848909-C-T c.12344G>A p.R4115H Missense 63/72 - 3
1-215848910-G-A c.12343C>T p.R4115C Missense 63/72 - 6
1-215848918-C-G c.12335G>C p.G4112A Missense 63/72 - 1
1-215848918-C-T c.12335G>A p.G4112D Missense 63/72 - 1
1-215848919-C-T c.12334G>A p.G4112S Missense 63/72 - 1
1-215848921-G-A c.12332C>T p.S4111F Missense 63/72 - 2
1-215848925-A-C c.12328T>G p.Y4110D Missense 63/72 - 2
1-215848925-A-G c.12328T>C p.Y4110H Missense 63/72 - 1
1-215848937-C-A c.12316G>T p.G4106W Missense 63/72 - 1
1-215848937-C-T c.12316G>A p.G4106R Missense 63/72 - 1
1-215848941-A-C c.12312T>G p.S4104R Missense 63/72 - 1
1-215848941-A-G c.12312T>C p.S4104= Synonymous 63/72 - 1
1-215848948-A-T c.12305T>A p.I4102N Missense 63/72 - 2
1-215848949-T-C c.12304A>G p.I4102V Missense 63/72 - 1
1-215848951-T-A c.12302A>T p.N4101I Missense 63/72 - 1
1-215848951-T-C c.12302A>G p.N4101S Missense 63/72 - 1
1-215848955-A-G c.12298T>C p.Y4100H Missense 63/72 - 1
1-215850817-C-T c.12295-1859G>A - IntronicSNV - 62/71 1
1-215853490-C-T c.12294+1G>A - IntronicSNV - 62/71 3
1-215853495-A-G c.12290T>C p.I4097T Missense 62/72 - 1
1-215853499-C-G c.12286G>C p.V4096L Missense 62/72 - 1
1-215853499-C-A c.12286G>T p.V4096L Missense 62/72 - 1
1-215853501-C-T c.12284G>A p.G4095D Missense 62/72 - 2
1-215853502-C-T c.12283G>A p.G4095S Missense 62/72 - 1
1-215853503-A-C c.12282T>G p.N4094K Missense 62/72 - 1
1-215853504-T-G c.12281A>C p.N4094T Missense 62/72 - 1
1-215853505-T-C c.12280A>G p.N4094D Missense 62/72 - 1
1-215853507-G-A c.12278C>T p.T4093I Missense 62/72 - 1
1-215853507-G-C c.12278C>G p.T4093S Missense 62/72 - 1
1-215853510-C-T c.12275G>A p.R4092K Missense 62/72 - 1
1-215853512-C-T c.12273G>A p.M4091I Missense 62/72 - 1
1-215853514-T-A c.12271A>T p.M4091L Missense 62/72 - 1
1-215853514-T-C c.12271A>G p.M4091V Missense 62/72 - 1
1-215853517-G-T c.12268C>A p.P4090T Missense 62/72 - 2
1-215853524-C-G c.12261G>C p.W4087C Missense 62/72 - 1
1-215853528-T-A c.12257A>T p.Q4086L Missense 62/72 - 1
1-215853532-G-T c.12253C>A p.L4085I Missense 62/72 - 1
1-215853536-C-G c.12249G>C p.L4083F Missense 62/72 - 1
1-215853541-C-T c.12244G>A p.A4082T Missense 62/72 - 1
1-215853543-C-T c.12242G>A p.R4081Q Missense 62/72 - 1
1-215853544-G-A c.12241C>T p.R4081W Missense 62/72 - 2
1-215853544-G-T c.12241C>A p.R4081= Synonymous 62/72 - 1
1-215853549-TTC-T c.12234_12235del p.N4079Wfs*19 Frameshift 62/72 - 2
1-215853564-A-G c.12221T>C p.V4074A Missense 62/72 - 1
1-215853567-A-G c.12218T>C p.I4073T Missense 62/72 - 1
1-215853576-C-T c.12209G>A p.R4070K Missense 62/72 - 1
1-215853582-C-A c.12203G>T p.G4068V Missense 62/72 - 1
1-215853586-T-C c.12199A>G p.S4067G Missense 62/72 - 1
1-215853586-T-G c.12199A>C p.S4067R Missense 62/72 - 1
1-215853587-TGG-T c.12196_12197del p.P4066Kfs*32 Frameshift 62/72 - 1
1-215853598-C-G c.12187G>C p.E4063Q Missense 62/72 - 1
1-215853603-G-A c.12182C>T p.T4061I Missense 62/72 - 1
1-215853615-G-A c.12170C>T p.T4057I Missense 62/72 - 1
1-215853617-C-T c.12168G>A p.W4056* Nonsense 62/72 - 1
1-215853618-C-T c.12167G>A p.W4056* Nonsense 62/72 - 1
1-215853624-C-A c.12161G>T p.S4054I Missense 62/72 - 2
1-215853632-T-TAA c.12152_12153insTT p.E4051Dfs*2 Frameshift 62/72 - 1
1-215853636-C-T c.12149G>A p.G4050E Missense 62/72 - 1
1-215853640-C-T c.12145G>A p.A4049T Missense 62/72 - 2
1-215853654-A-C c.12131T>G p.V4044G Missense 62/72 - 1
1-215853654-A-G c.12131T>C p.V4044A Missense 62/72 - 1
1-215853654-A-T c.12131T>A p.V4044E Missense 62/72 - 1
1-215853657-A-C c.12128T>G p.V4043G Missense 62/72 - 1
1-215853658-C-A c.12127G>T p.V4043F Missense 62/72 - 1
1-215853664-T-A c.12121A>T p.I4041F Missense 62/72 - 1
1-215853664-T-C c.12121A>G p.I4041V Missense 62/72 - 1
1-215853667-G-A c.12118C>T p.R4040C Missense 62/72 - 1
1-215853673-T-C c.12112A>G p.T4038A Missense 62/72 - 1
1-215853676-T-A c.12109A>T p.T4037S Missense 62/72 - 1
1-215853679-A-G c.12106T>C p.F4036L Missense 62/72 - 1
1-215853691-C-T c.12094G>A p.G4032R Missense 62/72 - 4
1-215853692-CG-C c.12093del p.Y4031* Frameshift 62/72 - 5
1-215853692-G-A c.12093C>T p.Y4031= Synonymous 62/72 - 3
1-215853692-G-T c.12093C>A p.Y4031* Nonsense 62/72 - 1
1-215853693-T-C c.12092A>G p.Y4031C Missense 62/72 - 1
1-215853694-A-C c.12091T>G p.Y4031D Missense 62/72 - 1
1-215853697-G-A c.12088C>T p.L4030= Synonymous 62/72 - 1
1-215853697-G-C c.12088C>G p.L4030V Missense 62/72 - 1
1-215853698-G-GT c.12086dup p.H4029Qfs*70 Frameshift 62/72 - 2
1-215853699-T-A c.12086A>T p.H4029L Missense 62/72 - 1
1-215853699-T-C c.12086A>G p.H4029R Missense 62/72 - 1
1-215853702-G-A c.12083C>T p.A4028V Missense 62/72 - 1
1-215853705-T-C c.12080A>G p.Q4027R Missense 62/72 - 2
1-215853711-C-A c.12074G>T p.S4025I Missense 62/72 - 1
1-215853717-C-A c.12068G>T p.G4023V Missense 62/72 - 1
1-215853717-C-T c.12068G>A p.G4023E Missense 62/72 - 1
1-215853718-C-T c.12067G>A p.G4023R Missense 62/72 - 1
1-215853720-T-C c.12067-2A>G - IntronicSNV - 61/71 1
1-215874904-C-A c.12067-21186G>T - IntronicSNV - 61/71 1
1-215887929-T-A c.12066+13443A>T - IntronicSNV - 61/71 1
1-215887929-T-G c.12066+13443A>C - IntronicSNV - 61/71 1
1-215901386-C-T c.12052G>A p.A4018T Missense 61/72 - 2
1-215901388-T-A c.12050A>T p.H4017L Missense 61/72 - 1
1-215901388-T-C c.12050A>G p.H4017R Missense 61/72 - 1
1-215901391-A-G c.12047T>C p.V4016A Missense 61/72 - 1
1-215901392-C-T c.12046G>A p.V4016M Missense 61/72 - 1
1-215901398-G-A c.12040C>T p.P4014S Missense 61/72 - 1
1-215901410-T-C c.12028A>G p.T4010A Missense 61/72 - 1
1-215901416-C-A c.12022G>T p.D4008Y Missense 61/72 - 1
1-215901416-C-T c.12022G>A p.D4008N Missense 61/72 - 1
1-215901427-T-C c.12011A>G p.E4004G Missense 61/72 - 1
1-215901432-G-T c.12006C>A p.Y4002* Nonsense 61/72 - 2
1-215901433-T-C c.12005A>G p.Y4002C Missense 61/72 - 1
1-215901434-A-G c.12004T>C p.Y4002H Missense 61/72 - 1
1-215901434-A-T c.12004T>A p.Y4002N Missense 61/72 - 1
1-215901442-C-A c.11996G>T p.R3999L Missense 61/72 - 1
1-215901442-C-T c.11996G>A p.R3999H Missense 61/72 - 1
1-215901443-G-A c.11995C>T p.R3999C Missense 61/72 - 1
1-215901451-G-A c.11987C>T p.S3996F Missense 61/72 - 1
1-215901460-C-A c.11978G>T p.G3993V Missense 61/72 - 1
1-215901460-C-T c.11978G>A p.G3993D Missense 61/72 - 1
1-215901461-C-A c.11977G>T p.G3993C Missense 61/72 - 1
1-215901469-G-A c.11969C>T p.S3990F Missense 61/72 - 1
1-215901470-A-G c.11968T>C p.S3990P Missense 61/72 - 1
1-215901475-G-A c.11963C>T p.P3988L Missense 61/72 - 1
1-215901481-G-A c.11957C>T p.T3986I Missense 61/72 - 1
1-215901483-C-T c.11955G>A p.W3985* Nonsense 61/72 - 1
1-215901483-C-G c.11955G>C p.W3985C Missense 61/72 - 1
1-215901486-A-G c.11952T>C p.N3984= Synonymous 61/72 - 1
1-215901486-A-T c.11952T>A p.N3984K Missense 61/72 - 1
1-215901492-C-T c.11946G>A p.L3982= Synonymous 61/72 - 5
1-215901492-C-A c.11946G>T p.L3982= Synonymous 61/72 - 1
1-215901492-C-G c.11946G>C p.L3982= Synonymous 61/72 - 1
1-215901494-G-A c.11944C>T p.L3982= Synonymous 61/72 - 1
1-215901497-C-G c.11941G>C p.V3981L Missense 61/72 - 1
1-215901510-C-T c.11928G>A p.T3976= Synonymous 61/72 - 2
1-215901511-G-A c.11927C>T p.T3976M Missense 61/72 - 4
1-215901515-C-T c.11923G>A p.A3975T Missense 61/72 - 1
1-215901520-AG-A c.11918del p.A3973Vfs*11 Frameshift 61/72 - 2
1-215901522-C-A c.11916G>T p.W3972C Missense 61/72 - 1
1-215901526-G-A c.11912C>T p.P3971L Missense 61/72 - 1
1-215901531-T-A c.11907A>T p.P3969= Synonymous 61/72 - 3
1-215901531-CT-C c.11907del p.A3970Lfs*14 Frameshift 61/72 - 1
1-215901539-C-G c.11899G>C p.D3967H Missense 61/72 - 1
1-215901544-G-A c.11894C>T p.P3965L Missense 61/72 - 1
1-215901545-G-A c.11893C>T p.P3965S Missense 61/72 - 1
1-215901551-C-T c.11887G>A p.A3963T Missense 61/72 - 1
1-215901556-A-C c.11882T>G p.L3961R Missense 61/72 - 1
1-215901557-G-T c.11881C>A p.L3961M Missense 61/72 - 1
1-215901562-T-C c.11876A>G p.Q3959R Missense 61/72 - 1
1-215901563-TG-T c.11875del p.Q3959Kfs*25 Frameshift 61/72 - 1
1-215901565-G-C c.11873C>G p.T3958R Missense 61/72 - 1
1-215901566-T-C c.11872A>G p.T3958A Missense 61/72 - 1
1-215901566-T-G c.11872A>C p.T3958P Missense 61/72 - 1
1-215901571-G-C c.11867C>G p.S3956* Nonsense 61/72 - 1
1-215901574-C-T c.11864G>A p.W3955* Nonsense 61/72 - 46
1-215901573-C-T c.11865G>A p.W3955* Nonsense 61/72 - 3
1-215901574-CA-GT c.11863_11864delinsAC p.W3955T Missense 61/72 - 1
1-215901575-A-G c.11863T>C p.W3955R Missense 61/72 - 1
1-215901582-C-G c.11856G>C p.E3952D Missense 61/72 - 1
1-215901587-C-G c.11851G>C p.V3951L Missense 61/72 - 1
1-215901587-C-T c.11851G>A p.V3951M Missense 61/72 - 1
1-215901589-G-A c.11849C>T p.S3950L Missense 61/72 - 1
1-215901598-G-A c.11840C>T p.S3947F Missense 61/72 - 1
1-215901605-A-C c.11833T>G p.C3945G Missense 61/72 - 1
1-215901607-G-T c.11831C>A p.A3944D Missense 61/72 - 4
1-215901610-C-T c.11828G>A p.R3943K Missense 61/72 - 1
1-215901616-C-T c.11822G>A p.R3941Q Missense 61/72 - 1
1-215901617-G-A c.11821C>T p.R3941W Missense 61/72 - 1
1-215901617-G-C c.11821C>G p.R3941G Missense 61/72 - 1
1-215901617-G-T c.11821C>A p.R3941= Synonymous 61/72 - 1
1-215901623-C-T c.11815G>A p.E3939K Missense 61/72 - 4
1-215901626-A-G c.11812T>C p.Y3938H Missense 61/72 - 1
1-215901625-TAG-T c.11811_11812del p.Y3938Rfs*8 Frameshift 61/72 - 1
1-215901631-G-A c.11807C>T p.T3936I Missense 61/72 - 1
1-215901632-T-G c.11806A>C p.T3936P Missense 61/72 - 4
1-215901633-G-T c.11805C>A p.F3935L Missense 61/72 - 1
1-215901635-A-C c.11803T>G p.F3935V Missense 61/72 - 1
1-215901646-G-A c.11792C>T p.T3931I Missense 61/72 - 1
1-215901658-T-C c.11780A>G p.D3927G Missense 61/72 - 1
1-215901664-A-T c.11774T>A p.F3925Y Missense 61/72 - 1
1-215901668-C-T c.11770G>A p.E3924K Missense 61/72 - 1
1-215901674-C-A c.11764G>T p.A3922S Missense 61/72 - 1
1-215901674-C-T c.11764G>A p.A3922T Missense 61/72 - 1
1-215901682-G-A c.11756C>T p.S3919L Missense 61/72 - 1
1-215901685-C-T c.11753G>A p.W3918* Nonsense 61/72 - 1
1-215901684-C-T c.11754G>A p.W3918* Nonsense 61/72 - 3
1-215901684-CCAGA-C c.11750_11753del p.V3917Gfs*15 Frameshift 61/72 - 1
1-215901702-C-T c.11736G>A p.E3912= Synonymous 61/72 - 3
1-215901704-C-T c.11734G>A p.E3912K Missense 61/72 - 2
1-215901705-C-A c.11733G>T p.E3911D Missense 61/72 - 1
1-215901710-C-A c.11728G>T p.E3910* Nonsense 61/72 - 1
1-215901710-C-G c.11728G>C p.E3910Q Missense 61/72 - 1
1-215901719-C-A c.11719G>T p.A3907S Missense 61/72 - 1
1-215901721-G-T c.11717C>A p.P3906H Missense 61/72 - 1
1-215901722-G-A c.11716C>T p.P3906S Missense 61/72 - 1
1-215901724-C-G c.11714G>C p.R3905P Missense 61/72 - 1
1-215901724-C-T c.11714G>A p.R3905H Missense 61/72 - 1
1-215901725-G-A c.11713C>T p.R3905C Missense 61/72 - 6
1-215901728-T-G c.11712-2A>C - IntronicSNV - 60/71 1
1-215901728-T-C c.11712-2A>G - IntronicSNV - 60/71 1
1-215903907-C-T c.11712-2181G>A - IntronicSNV - 60/71 1
1-215912642-T-C c.11711+2075A>G - IntronicSNV - 60/71 1
1-215914717-C-T c.11711G>A p.R3904K Missense 60/72 - 3
1-215914724-TA-T c.11703del p.F3901Lfs*32 Frameshift 60/72 - 1
1-215914739-T-G c.11689A>C p.I3897L Missense 60/72 - 1
1-215914742-T-C c.11686A>G p.I3896V Missense 60/72 - 1
1-215914742-T-G c.11686A>C p.I3896L Missense 60/72 - 1
1-215914744-C-T c.11684G>A p.G3895E Missense 60/72 - 1
1-215914745-C-A c.11683G>T p.G3895* Nonsense 60/72 - 1
1-215914746-A-T c.11682T>A p.N3894K Missense 60/72 - 1
1-215914748-T-C c.11680A>G p.N3894D Missense 60/72 - 1
1-215914750-G-A c.11678C>T p.P3893L Missense 60/72 - 1
1-215914750-G-T c.11678C>A p.P3893Q Missense 60/72 - 1
1-215914751-G-T c.11677C>A p.P3893T Missense 60/72 - 6
1-215914752-T-C c.11676A>G p.K3892= Synonymous 60/72 - 1
1-215914752-T-G c.11676A>C p.K3892N Missense 60/72 - 1
1-215914758-A-C c.11670T>G p.P3890= Synonymous 60/72 - 1
1-215914758-A-T c.11670T>A p.P3890= Synonymous 60/72 - 1
1-215914758-A-G c.11670T>C p.P3890= Synonymous 60/72 - 1
1-215914757-CAGGTGGCATCCACTT-C c.11656_11670del p.K3886_P3890del InFrameDeletion 60/72 - 1
1-215914762-G-A c.11666C>T p.P3889L Missense 60/72 - 1
1-215914762-G-T c.11666C>A p.P3889Q Missense 60/72 - 1
1-215914763-G-A c.11665C>T p.P3889S Missense 60/72 - 1
1-215914764-C-T c.11664G>A p.M3888I Missense 60/72 - 1
1-215914768-C-G c.11660G>C p.W3887S Missense 60/72 - 1
1-215914768-C-T c.11660G>A p.W3887* Nonsense 60/72 - 1
1-215914771-T-G c.11657A>C p.K3886T Missense 60/72 - 1
1-215914774-A-G c.11654T>C p.I3885T Missense 60/72 - 1
1-215914776-C-G c.11652G>C p.E3884D Missense 60/72 - 1
1-215914776-C-A c.11652G>T p.E3884D Missense 60/72 - 1
1-215914778-C-G c.11650G>C p.E3884Q Missense 60/72 - 1
1-215914780-A-G c.11648T>C p.I3883T Missense 60/72 - 1
1-215914781-T-C c.11647A>G p.I3883V Missense 60/72 - 1
1-215914790-A-G c.11638T>C p.S3880P Missense 60/72 - 1
1-215914798-G-A c.11630C>T p.A3877V Missense 60/72 - 1
1-215914798-G-C c.11630C>G p.A3877G Missense 60/72 - 1
1-215914808-C-T c.11620G>A p.V3874I Missense 60/72 - 2
1-215914825-A-AC c.11602_11603insG p.M3868Sfs*4 Frameshift 60/72 - 1
1-215914826-T-C c.11602A>G p.M3868V Missense 60/72 - 10
1-215914826-T-A c.11602A>T p.M3868L Missense 60/72 - 3
1-215914830-G-T c.11598C>A p.A3866= Synonymous 60/72 - 1
1-215914830-G-C c.11598C>G p.A3866= Synonymous 60/72 - 1
1-215914830-G-A c.11598C>T p.A3866= Synonymous 60/72 - 1
1-215914831-G-A c.11597C>T p.A3866V Missense 60/72 - 1
1-215914831-G-T c.11597C>A p.A3866D Missense 60/72 - 1
1-215914843-G-A c.11585C>T p.T3862I Missense 60/72 - 1
1-215914843-G-C c.11585C>G p.T3862R Missense 60/72 - 1
1-215914846-T-C c.11582A>G p.K3861R Missense 60/72 - 1
1-215914847-T-C c.11581A>G p.K3861E Missense 60/72 - 1
1-215914854-C-T c.11574G>A p.M3858I Missense 60/72 - 1
1-215914855-A-C c.11573T>G p.M3858R Missense 60/72 - 1
1-215914856-T-C c.11572A>G p.M3858V Missense 60/72 - 1
1-215914856-T-G c.11572A>C p.M3858L Missense 60/72 - 1
1-215914862-CT-C c.11566del p.S3856Vfs*28 Frameshift 60/72 - 1
1-215914864-C-T c.11564G>A p.S3855N Missense 60/72 - 1
1-215914869-T-TA c.11558_11559insT p.V3854Sfs*2 Frameshift 60/72 - 1
1-215916517-A-C c.11548+2T>G - IntronicSNV - 59/71 1
1-215916531-C-T c.11536G>A p.A3846T Missense 59/72 - 1
1-215916534-G-A c.11533C>T p.Q3845* Nonsense 59/72 - 2
1-215916535-T-C c.11532A>G p.I3844M Missense 59/72 - 2
1-215916536-A-G c.11531T>C p.I3844T Missense 59/72 - 1
1-215916537-T-C c.11530A>G p.I3844V Missense 59/72 - 1
1-215916539-C-G c.11528G>C p.R3843T Missense 59/72 - 1
1-215916543-T-C c.11524A>G p.I3842V Missense 59/72 - 1
1-215916547-A-G c.11520T>C p.Y3840= Synonymous 59/72 - 1
1-215916551-T-G c.11516A>C p.Q3839P Missense 59/72 - 1
1-215916560-G-A c.11507C>T p.P3836L Missense 59/72 - 1
1-215916561-G-A c.11506C>T p.P3836S Missense 59/72 - 1
1-215916561-G-C c.11506C>G p.P3836A Missense 59/72 - 1
1-215916563-G-A c.11504C>T p.T3835I Missense 59/72 - 9
1-215916566-A-G c.11501T>C p.L3834S Missense 59/72 - 1
1-215916584-G-T c.11483C>A p.S3828Y Missense 59/72 - 1
1-215916594-TG-T c.11473del p.H3825Ifs*10 Frameshift 59/72 - 2
1-215916600-C-T c.11467G>A p.V3823I Missense 59/72 - 2
1-215916603-A-G c.11464T>C p.S3822P Missense 59/72 - 1
1-215916606-A-G c.11461T>C p.F3821L Missense 59/72 - 1
1-215916608-G-A c.11459C>T p.A3820V Missense 59/72 - 1
1-215916611-A-C c.11456T>G p.L3819R Missense 59/72 - 1
1-215916614-G-A c.11453C>T p.P3818L Missense 59/72 - 1
1-215916614-G-C c.11453C>G p.P3818R Missense 59/72 - 1
1-215916617-G-A c.11450C>T p.T3817I Missense 59/72 - 1
1-215916624-T-C c.11443A>G p.S3815G Missense 59/72 - 1
1-215916629-T-A c.11438A>T p.D3813V Missense 59/72 - 1
1-215916632-T-C c.11435A>G p.N3812S Missense 59/72 - 1
1-215916651-C-A c.11416G>T p.E3806* Nonsense 59/72 - 1
1-215916653-A-G c.11414T>C p.V3805A Missense 59/72 - 1
1-215916657-G-A c.11410C>T p.P3804S Missense 59/72 - 1
1-215916655-AG-A c.11411del p.P3804Lfs*13 Frameshift 59/72 - 1
1-215916663-C-A c.11404G>T p.E3802* Nonsense 59/72 - 1
1-215916663-C-T c.11404G>A p.E3802K Missense 59/72 - 1
1-215916665-G-A c.11402C>T p.P3801L Missense 59/72 - 1
1-215916669-T-C c.11398A>G p.I3800V Missense 59/72 - 1
1-215916670-G-A c.11397C>T p.L3799= Synonymous 59/72 - 1
1-215931934-T-A c.11389+3A>T - IntronicSNV - 58/71 6
1-215931922-CT-C c.11389+14del - IntronicDeletion - 58/71 1
1-215931936-C-T c.11389+1G>A - IntronicSNV - 58/71 1
1-215931939-G-A c.11387C>T p.P3796L Missense 58/72 - 2
1-215931939-G-T c.11387C>A p.P3796Q Missense 58/72 - 1
1-215931940-G-A c.11386C>T p.P3796S Missense 58/72 - 1
1-215931940-G-T c.11386C>A p.P3796T Missense 58/72 - 1
1-215931944-T-C c.11382A>G p.I3794M Missense 58/72 - 2
1-215931954-A-G c.11372T>C p.V3791A Missense 58/72 - 1
1-215931960-A-G c.11366T>C p.I3789T Missense 58/72 - 1
1-215931961-T-C c.11365A>G p.I3789V Missense 58/72 - 1
1-215931963-G-T c.11363C>A p.S3788Y Missense 58/72 - 1
1-215931968-AG-A c.11357del p.P3786Lfs*6 Frameshift 58/72 - 1
1-215931974-A-C c.11352T>G p.I3784M Missense 58/72 - 1
1-215931985-T-C c.11341A>G p.I3781V Missense 58/72 - 1
1-215931990-AT-A c.11336del p.Y3779Lfs*5 Frameshift 58/72 - 1
1-215931993-G-A c.11333C>T p.P3778L Missense 58/72 - 1
1-215931998-A-C c.11328T>G p.Y3776* Nonsense 58/72 - 4
1-215931998-A-T c.11328T>A p.Y3776* Nonsense 58/72 - 1
1-215932002-A-G c.11324T>C p.I3775T Missense 58/72 - 1
1-215932015-T-C c.11311A>G p.T3771A Missense 58/72 - 1
1-215932020-A-G c.11306T>C p.M3769T Missense 58/72 - 1
1-215932023-G-T c.11303C>A p.P3768H Missense 58/72 - 1
1-215932024-G-T c.11302C>A p.P3768T Missense 58/72 - 1
1-215932038-T-C c.11288A>G p.Y3763C Missense 58/72 - 2
1-215932045-C-T c.11281G>A p.D3761N Missense 58/72 - 1
1-215932046-A-C c.11280T>G p.S3760R Missense 58/72 - 1
1-215932046-A-T c.11280T>A p.S3760R Missense 58/72 - 1
1-215932047-C-T c.11279G>A p.S3760N Missense 58/72 - 1
1-215932052-A-T c.11274T>A p.S3758R Missense 58/72 - 1
1-215932057-T-C c.11269A>G p.S3757G Missense 58/72 - 1
1-215932059-C-T c.11267G>A p.G3756D Missense 58/72 - 1
1-215932060-C-T c.11266G>A p.G3756S Missense 58/72 - 1
1-215932063-C-G c.11263G>C p.G3755R Missense 58/72 - 1
1-215932065-C-A c.11261G>T p.G3754V Missense 58/72 - 1
1-215932071-T-C c.11255A>G p.K3752R Missense 58/72 - 1
1-215932076-T-A c.11250A>T p.E3750D Missense 58/72 - 1
1-215932078-C-G c.11248G>C p.E3750Q Missense 58/72 - 1
1-215932078-C-T c.11248G>A p.E3750K Missense 58/72 - 1
1-215932082-C-A c.11244G>T p.K3748N Missense 58/72 - 1
1-215932085-G-T c.11241C>A p.Y3747* Nonsense 58/72 - 3
1-215932085-G-C c.11241C>G p.Y3747* Nonsense 58/72 - 1
1-215932089-G-A c.11237C>T p.T3746I Missense 58/72 - 1
1-215932091-G-C c.11235C>G p.Y3745* Nonsense 58/72 - 1
1-215932093-A-G c.11233T>C p.Y3745H Missense 58/72 - 3
1-215933003-T-C c.11230A>G p.R3744G Missense 57/72 - 1
1-215933008-T-C c.11225A>G p.N3742S Missense 57/72 - 1
1-215933020-T-C c.11213A>G p.N3738S Missense 57/72 - 1
1-215933024-T-TA c.11208dup p.K3737* Nonsense 57/72 - 1
1-215933029-G-T c.11204C>A p.T3735N Missense 57/72 - 1
1-215933029-G-A c.11204C>T p.T3735I Missense 57/72 - 1
1-215933036-T-C c.11197A>G p.N3733D Missense 57/72 - 1
1-215933039-G-A c.11194C>T p.Q3732* Nonsense 57/72 - 1
1-215933042-C-G c.11191G>C p.E3731Q Missense 57/72 - 2
1-215933044-T-C c.11189A>G p.E3730G Missense 57/72 - 1
1-215933045-C-T c.11188G>A p.E3730K Missense 57/72 - 1
1-215933050-C-T c.11183G>A p.G3728D Missense 57/72 - 1
1-215933053-C-A c.11180G>T p.G3727V Missense 57/72 - 1
1-215933054-C-T c.11179G>A p.G3727S Missense 57/72 - 1
1-215933058-G-C c.11175C>G p.F3725L Missense 57/72 - 1
1-215933058-G-T c.11175C>A p.F3725L Missense 57/72 - 1
1-215933074-T-C c.11159A>G p.N3720S Missense 57/72 - 1
1-215933077-C-A c.11156G>T p.R3719L Missense 57/72 - 4
1-215933077-C-T c.11156G>A p.R3719H Missense 57/72 - 20
1-215933078-G-A c.11155C>T p.R3719C Missense 57/72 - 1
1-215933078-G-T c.11155C>A p.R3719S Missense 57/72 - 1
1-215933087-G-A c.11146C>T p.Q3716* Nonsense 57/72 - 2
1-215933087-G-T c.11146C>A p.Q3716K Missense 57/72 - 1
1-215933090-A-C c.11143T>G p.Y3715D Missense 57/72 - 1
1-215933090-A-T c.11143T>A p.Y3715N Missense 57/72 - 1
1-215933092-T-C c.11141A>G p.Q3714R Missense 57/72 - 1
1-215933093-G-C c.11140C>G p.Q3714E Missense 57/72 - 1
1-215933095-GAA-G c.11136_11137del p.Q3714Ifs*6 Frameshift 57/72 - 1
1-215933099-C-T c.11134G>A p.V3712I Missense 57/72 - 1
1-215933104-C-T c.11129G>A p.G3710D Missense 57/72 - 1
1-215933107-T-C c.11126A>G p.N3709S Missense 57/72 - 1
1-215933110-G-A c.11123C>T p.P3708L Missense 57/72 - 1
1-215933112-C-A c.11121G>T p.K3707N Missense 57/72 - 1
1-215933116-T-A c.11117A>T p.E3706V Missense 57/72 - 1
1-215933128-C-T c.11105G>A p.W3702* Nonsense 57/72 - 1
1-215933127-C-T c.11106G>A p.W3702* Nonsense 57/72 - 1
1-215933130-A-T c.11103T>A p.Y3701* Nonsense 57/72 - 1
1-215933130-A-C c.11103T>G p.Y3701* Nonsense 57/72 - 1
1-215933138-C-T c.11095G>A p.E3699K Missense 57/72 - 1
1-215933144-T-C c.11089A>G p.T3697A Missense 57/72 - 1
1-215933146-G-A c.11087C>T p.T3696I Missense 57/72 - 1
1-215933151-A-G c.11082T>C p.N3694= Synonymous 57/72 - 1
1-215933152-T-C c.11081A>G p.N3694S Missense 57/72 - 2
1-215933152-T-A c.11081A>T p.N3694I Missense 57/72 - 1
1-215933159-T-C c.11074A>G p.I3692V Missense 57/72 - 1
1-215933162-T-C c.11071A>G p.I3691V Missense 57/72 - 1
1-215933162-T-G c.11071A>C p.I3691L Missense 57/72 - 1
1-215933166-T-C c.11067A>G p.R3689= Synonymous 57/72 - 1
1-215933167-C-T c.11066G>A p.R3689Q Missense 57/72 - 1
1-215933168-G-A c.11065C>T p.R3689* Nonsense 57/72 - 4
1-215933171-G-A c.11062C>T p.P3688S Missense 57/72 - 1
1-215933171-G-T c.11062C>A p.P3688T Missense 57/72 - 1
1-215933176-A-G c.11057T>C p.V3686A Missense 57/72 - 1
1-215933177-C-T c.11056G>A p.V3686M Missense 57/72 - 1
1-215933179-C-T c.11054G>A p.W3685* Nonsense 57/72 - 1
1-215933179-C-G c.11054G>C p.W3685S Missense 57/72 - 1
1-215933180-A-G c.11053T>C p.W3685R Missense 57/72 - 1
1-215933183-C-A c.11050G>T p.V3684F Missense 57/72 - 1
1-215933183-C-T c.11050G>A p.V3684I Missense 57/72 - 1
1-215933185-C-A c.11048G>T p.G3683V Missense 57/72 - 1
1-215940022-C-T c.11047+1G>A - IntronicSNV - 56/71 3
1-215940028-G-A c.11042C>T p.P3681L Missense 56/72 - 1
1-215940034-G-A c.11036C>T p.A3679V Missense 56/72 - 1
1-215940037-T-C c.11033A>G p.Q3678R Missense 56/72 - 1
1-215940058-G-C c.11012C>G p.P3671R Missense 56/72 - 1
1-215940062-C-G c.11008G>C p.E3670Q Missense 56/72 - 1
1-215940062-C-T c.11008G>A p.E3670K Missense 56/72 - 1
1-215940063-G-T c.11007C>A p.S3669R Missense 56/72 - 1
1-215940071-T-G c.10999A>C p.T3667P Missense 56/72 - 3
1-215940071-T-C c.10999A>G p.T3667A Missense 56/72 - 1
1-215940074-A-C c.10996T>G p.C3666G Missense 56/72 - 2
1-215940077-C-T c.10993G>A p.G3665R Missense 56/72 - 1
1-215940091-G-A c.10979C>T p.A3660V Missense 56/72 - 1
1-215940094-G-GT c.10975dup p.T3659Nfs*24 Frameshift 56/72 - 1
1-215940101-T-C c.10969A>G p.T3657A Missense 56/72 - 1
1-215940104-A-G c.10966T>C p.F3656L Missense 56/72 - 1
1-215940108-G-T c.10962C>A p.Y3654* Nonsense 56/72 - 1
1-215940110-A-G c.10960T>C p.Y3654H Missense 56/72 - 1
1-215940112-T-C c.10958A>G p.N3653S Missense 56/72 - 1
1-215940123-C-G c.10947G>C p.Q3649H Missense 56/72 - 1
1-215940128-G-A c.10942C>T p.L3648F Missense 56/72 - 1
1-215949606-C-T c.10939+3579G>A - IntronicSNV - 55/71 1
1-215953141-G-A c.10939+44C>T - IntronicSNV - 55/71 1
1-215953184-C-A c.10939+1G>T - IntronicSNV - 55/71 1
1-215953185-C-T c.10939G>A p.G3647S Missense 55/72 - 1
1-215953191-C-T c.10933G>A p.V3645I Missense 55/72 - 1
1-215953193-G-A c.10931C>T p.T3644M Missense 55/72 - 3
1-215953193-G-T c.10931C>A p.T3644K Missense 55/72 - 1
1-215953194-T-A c.10930A>T p.T3644S Missense 55/72 - 1
1-215953196-AT-A c.10928del p.H3643Lfs*31 Frameshift 55/72 - 1
1-215953196-T-C c.10928A>G p.H3643R Missense 55/72 - 1
1-215953200-G-A c.10924C>T p.Q3642* Nonsense 55/72 - 1
1-215953200-G-C c.10924C>G p.Q3642E Missense 55/72 - 1
1-215953202-C-T c.10922G>A p.R3641K Missense 55/72 - 1
1-215953203-T-C c.10921A>G p.R3641G Missense 55/72 - 1
1-215953206-T-A c.10918A>T p.R3640W Missense 55/72 - 1
1-215953209-C-T c.10915G>A p.D3639N Missense 55/72 - 1
1-215953217-T-A c.10907A>T p.D3636V Missense 55/72 - 1
1-215953217-T-C c.10907A>G p.D3636G Missense 55/72 - 1
1-215953220-G-A c.10904C>T p.T3635I Missense 55/72 - 1
1-215953220-G-C c.10904C>G p.T3635S Missense 55/72 - 1
1-215953220-G-T c.10904C>A p.T3635N Missense 55/72 - 1
1-215953221-T-G c.10903A>C p.T3635P Missense 55/72 - 1
1-215953226-A-G c.10898T>C p.I3633T Missense 55/72 - 1
1-215953228-G-A c.10896C>T p.L3632= Synonymous 55/72 - 1
1-215953232-C-A c.10892G>T p.G3631V Missense 55/72 - 1
1-215953233-CT-C c.10890del p.G3631Vfs*43 Frameshift 55/72 - 1
1-215953238-C-T c.10886G>A p.G3629E Missense 55/72 - 1
1-215953241-A-G c.10883T>C p.V3628A Missense 55/72 - 1
1-215953241-A-T c.10883T>A p.V3628D Missense 55/72 - 1
1-215953242-C-T c.10882G>A p.V3628I Missense 55/72 - 1
1-215953246-C-A c.10878G>T p.R3626S Missense 55/72 - 1
1-215953247-C-G c.10877G>C p.R3626T Missense 55/72 - 1
1-215953253-T-C c.10871A>G p.Q3624R Missense 55/72 - 1
1-215953257-A-G c.10867T>C p.Y3623H Missense 55/72 - 1
1-215953258-C-G c.10866G>C p.E3622D Missense 55/72 - 1
1-215953258-C-T c.10866G>A p.E3622= Synonymous 55/72 - 1
1-215953265-A-G c.10859T>C p.I3620T Missense 55/72 - 9
1-215953265-A-C c.10859T>G p.I3620S Missense 55/72 - 1
1-215953266-T-C c.10858A>G p.I3620V Missense 55/72 - 2
1-215953269-C-T c.10855G>A p.V3619I Missense 55/72 - 2
1-215953272-C-T c.10852G>A p.G3618S Missense 55/72 - 2
1-215953273-G-A c.10851C>T p.N3617= Synonymous 55/72 - 1
1-215953273-G-T c.10851C>A p.N3617K Missense 55/72 - 1
1-215953275-T-C c.10849A>G p.N3617D Missense 55/72 - 1
1-215953277-G-A c.10847C>T p.S3616L Missense 55/72 - 1
1-215953281-T-C c.10843A>G p.K3615E Missense 55/72 - 1
1-215953288-G-T c.10836C>A p.V3612= Synonymous 55/72 - 1
1-215953290-C-T c.10834G>A p.V3612I Missense 55/72 - 2
1-215953298-C-A c.10826G>T p.S3609I Missense 55/72 - 1
1-215953298-C-G c.10826G>C p.S3609T Missense 55/72 - 1
1-215953304-T-G c.10820A>C p.H3607P Missense 55/72 - 2
1-215953305-G-A c.10819C>T p.H3607Y Missense 55/72 - 1
1-215953307-A-G c.10817T>C p.L3606P Missense 55/72 - 4
1-215953308-G-A c.10816C>T p.L3606= Synonymous 55/72 - 1
1-215953308-G-T c.10816C>A p.L3606M Missense 55/72 - 1
1-215953316-G-A c.10808C>T p.A3603V Missense 55/72 - 1
1-215953317-C-T c.10807G>A p.A3603T Missense 55/72 - 1
1-215953318-A-C c.10806T>G p.S3602R Missense 55/72 - 1
1-215953329-T-A c.10795A>T p.T3599S Missense 55/72 - 1
1-215953337-G-A c.10787C>T p.P3596L Missense 55/72 - 1
1-215953345-G-C c.10779C>G p.I3593M Missense 55/72 - 1
1-215953345-G-T c.10779C>A p.I3593= Synonymous 55/72 - 1
1-215953346-A-T c.10778T>A p.I3593N Missense 55/72 - 1
1-215953347-T-C c.10777A>G p.I3593V Missense 55/72 - 1
1-215953355-G-A c.10769C>T p.P3590L Missense 55/72 - 3
1-215953359-C-A c.10765G>T p.V3589F Missense 55/72 - 1
1-215953361-C-G c.10763G>C p.G3588A Missense 55/72 - 1
1-215953365-G-A c.10759C>T p.Q3587* Nonsense 55/72 - 4
1-215953367-G-A c.10757C>T p.T3586I Missense 55/72 - 1
1-215953368-T-A c.10756A>T p.T3586S Missense 55/72 - 1
1-215953368-T-C c.10756A>G p.T3586A Missense 55/72 - 1
1-215953374-C-G c.10750G>C p.A3584P Missense 55/72 - 1
1-215955377-C-T c.10740+7G>A - IntronicSNV - 54/71 1
1-215955396-G-T c.10728C>A p.A3576= Synonymous 54/72 - 1
1-215955396-G-C c.10728C>G p.A3576= Synonymous 54/72 - 1
1-215955396-G-A c.10728C>T p.A3576= Synonymous 54/72 - 1
1-215955400-C-T c.10724G>A p.C3575Y Missense 54/72 - 3
1-215955403-C-T c.10721G>A p.G3574D Missense 54/72 - 1
1-215955407-C-A c.10717G>T p.A3573S Missense 54/72 - 1
1-215955407-C-G c.10717G>C p.A3573P Missense 54/72 - 1
1-215955412-G-A c.10712C>T p.T3571M Missense 54/72 - 18
1-215955413-T-C c.10711A>G p.T3571A Missense 54/72 - 1
1-215955415-C-A c.10709G>T p.C3570F Missense 54/72 - 1
1-215955419-C-G c.10705G>C p.A3569P Missense 54/72 - 1
1-215955425-AG-A c.10699del p.L3567* Frameshift 54/72 - 3
1-215955429-A-T c.10695T>A p.Y3565* Nonsense 54/72 - 3
1-215955429-A-C c.10695T>G p.Y3565* Nonsense 54/72 - 2
1-215955435-A-T c.10689T>A p.Y3563* Nonsense 54/72 - 1
1-215955437-A-G c.10687T>C p.Y3563H Missense 54/72 - 1
1-215955440-C-A c.10684G>T p.E3562* Nonsense 54/72 - 4
1-215955441-C-G c.10683G>C p.Q3561H Missense 54/72 - 1
1-215955441-C-T c.10683G>A p.Q3561= Synonymous 54/72 - 1
1-215955449-G-A c.10675C>T p.P3559S Missense 54/72 - 1
1-215955461-C-T c.10663G>A p.E3555K Missense 54/72 - 1
1-215955464-T-C c.10660A>G p.K3554E Missense 54/72 - 2
1-215955472-A-T c.10652T>A p.F3551Y Missense 54/72 - 1
1-215955481-G-A c.10643C>T p.S3548L Missense 54/72 - 1
1-215955484-G-A c.10640C>T p.T3547I Missense 54/72 - 1
1-215955488-C-T c.10636G>A p.G3546R Missense 54/72 - 4
1-215955490-C-T c.10634G>A p.R3545Q Missense 54/72 - 1
1-215955489-C-A c.10635G>T p.R3545= Synonymous 54/72 - 1
1-215955489-C-G c.10635G>C p.R3545= Synonymous 54/72 - 1
1-215955491-G-T c.10633C>A p.R3545= Synonymous 54/72 - 1
1-215955489-C-T c.10635G>A p.R3545= Synonymous 54/72 - 1
1-215955491-G-A c.10633C>T p.R3545W Missense 54/72 - 1
1-215955496-C-T c.10628G>A p.R3543H Missense 54/72 - 1
1-215955497-G-A c.10627C>T p.R3543C Missense 54/72 - 1
1-215955497-GT-G c.10626del p.E3542Dfs*8 Frameshift 54/72 - 1
1-215955503-T-C c.10621A>G p.I3541V Missense 54/72 - 1
1-215955508-T-C c.10616A>G p.N3539S Missense 54/72 - 1
1-215955511-C-T c.10613G>A p.R3538Q Missense 54/72 - 1
1-215955512-G-A c.10612C>T p.R3538* Nonsense 54/72 - 2
1-215955515-G-A c.10609C>T p.L3537F Missense 54/72 - 2
1-215955520-A-T c.10604T>A p.I3535N Missense 54/72 - 1
1-215955521-T-C c.10603A>G p.I3535V Missense 54/72 - 1
1-215955523-T-C c.10601A>G p.Y3534C Missense 54/72 - 1
1-215955529-A-G c.10595T>C p.I3532T Missense 54/72 - 1
1-215955531-A-C c.10593T>G p.I3531M Missense 54/72 - 1
1-215955533-T-C c.10591A>G p.I3531V Missense 54/72 - 1
1-215955536-G-T c.10588C>A p.P3530T Missense 54/72 - 1
1-215956080-C-T c.10585G>A p.G3529S Missense 53/72 - 3
1-215956080-C-A c.10585G>T p.G3529C Missense 53/72 - 1
1-215956082-T-C c.10583A>G p.N3528S Missense 53/72 - 1
1-215956083-T-C c.10582A>G p.N3528D Missense 53/72 - 2
1-215956083-T-G c.10582A>C p.N3528H Missense 53/72 - 1
1-215956090-T-C c.10575A>G p.I3525M Missense 53/72 - 1
1-215956092-T-C c.10573A>G p.I3525V Missense 53/72 - 1
1-215956092-T-G c.10573A>C p.I3525L Missense 53/72 - 1
1-215956094-G-T c.10571C>A p.P3524H Missense 53/72 - 1
1-215956101-T-C c.10564A>G p.R3522G Missense 53/72 - 2
1-215956104-A-T c.10561T>A p.W3521R Missense 53/72 - 1
1-215956104-A-G c.10561T>C p.W3521R Missense 53/72 - 13
1-215956106-T-A c.10559A>T p.N3520I Missense 53/72 - 1
1-215956106-T-C c.10559A>G p.N3520S Missense 53/72 - 1
1-215956112-A-T c.10553T>A p.V3518D Missense 53/72 - 1
1-215956113-C-T c.10552G>A p.V3518I Missense 53/72 - 3
1-215956118-G-T c.10547C>A p.T3516K Missense 53/72 - 1
1-215956119-T-C c.10546A>G p.T3516A Missense 53/72 - 1
1-215956121-T-C c.10544A>G p.D3515G Missense 53/72 - 3
1-215956125-C-G c.10540G>C p.E3514Q Missense 53/72 - 1
1-215956126-A-C c.10539T>G p.L3513= Synonymous 53/72 - 1
1-215956126-A-T c.10539T>A p.L3513= Synonymous 53/72 - 1
1-215956126-A-G c.10539T>C p.L3513= Synonymous 53/72 - 1
1-215956131-T-G c.10534A>C p.N3512H Missense 53/72 - 1
1-215956132-G-A c.10533C>T p.D3511= Synonymous 53/72 - 1
1-215956132-G-T c.10533C>A p.D3511E Missense 53/72 - 1
1-215956133-T-C c.10532A>G p.D3511G Missense 53/72 - 1
1-215956136-A-G c.10529T>C p.I3510T Missense 53/72 - 1
1-215956138-T-G c.10527A>C p.K3509N Missense 53/72 - 1
1-215956140-T-A c.10525A>T p.K3509* Nonsense 53/72 - 2
1-215956142-G-T c.10523C>A p.T3508N Missense 53/72 - 1
1-215956148-G-A c.10517C>T p.T3506M Missense 53/72 - 1
1-215956151-G-A c.10514C>T p.P3505L Missense 53/72 - 1
1-215956154-G-A c.10511C>T p.P3504L Missense 53/72 - 1
1-215956155-G-C c.10510C>G p.P3504A Missense 53/72 - 5
1-215956155-G-T c.10510C>A p.P3504T Missense 53/72 - 2
1-215956156-A-T c.10509T>A p.S3503R Missense 53/72 - 1
1-215956157-C-A c.10508G>T p.S3503I Missense 53/72 - 1
1-215956161-C-G c.10504G>C p.V3502L Missense 53/72 - 1
1-215956170-G-A c.10495C>T p.P3499S Missense 53/72 - 1
1-215956175-T-C c.10490A>G p.D3497G Missense 53/72 - 2
1-215956176-C-T c.10489G>A p.D3497N Missense 53/72 - 1
1-215956178-T-G c.10487A>C p.E3496A Missense 53/72 - 1
1-215956174-ATCT-A c.10488_10490del p.E3496del InFrameDeletion 53/72 - 1
1-215956187-C-A c.10478G>T p.R3493I Missense 53/72 - 1
1-215956187-C-G c.10478G>C p.R3493T Missense 53/72 - 1
1-215956191-C-A c.10474G>T p.A3492S Missense 53/72 - 1
1-215956191-C-T c.10474G>A p.A3492T Missense 53/72 - 1
1-215956193-C-T c.10472G>A p.R3491K Missense 53/72 - 1
1-215956214-C-T c.10451G>A p.R3484Q Missense 53/72 - 2
1-215956215-G-A c.10450C>T p.R3484* Nonsense 53/72 - 6
1-215956217-C-A c.10448G>T p.G3483V Missense 53/72 - 1
1-215956218-C-A c.10447G>T p.G3483W Missense 53/72 - 1
1-215956220-T-C c.10445A>G p.Y3482C Missense 53/72 - 1
1-215956228-C-A c.10437G>T p.W3479C Missense 53/72 - 3
1-215956233-C-T c.10432G>A p.A3478T Missense 53/72 - 1
1-215956236-A-G c.10429T>C p.S3477P Missense 53/72 - 1
1-215956239-T-G c.10426A>C p.I3476L Missense 53/72 - 1
1-215956242-T-A c.10423A>T p.R3475W Missense 53/72 - 1
1-215956242-T-C c.10423A>G p.R3475G Missense 53/72 - 1
1-215956244-T-C c.10421A>G p.Y3474C Missense 53/72 - 2
1-215956251-A-G c.10414T>C p.Y3472H Missense 53/72 - 1
1-215956257-T-C c.10408A>G p.M3470V Missense 53/72 - 1
1-215956259-T-C c.10406A>G p.Y3469C Missense 53/72 - 1
1-215956260-A-G c.10405T>C p.Y3469H Missense 53/72 - 1
1-215956262-G-A c.10403C>T p.P3468L Missense 53/72 - 3
1-215956267-G-A c.10398C>T p.L3466= Synonymous 53/72 - 1
1-215956267-G-C c.10398C>G p.L3466= Synonymous 53/72 - 1
1-215956267-G-T c.10398C>A p.L3466= Synonymous 53/72 - 1
1-215956270-G-A c.10395C>T p.N3465= Synonymous 53/72 - 1
1-215956270-G-T c.10395C>A p.N3465K Missense 53/72 - 1
1-215956271-GTTCACAT-G c.10388_10394del p.D3463Afs*6 SpliceAcceptorDeletion 53/72 - 1
1-215956277-T-C c.10388A>G p.D3463G Missense 53/72 - 1
1-215960012-C-G c.10387G>C p.D3463H Missense 52/72 - 1
1-215960014-G-A c.10385C>T p.T3462I Missense 52/72 - 1
1-215960014-G-T c.10385C>A p.T3462K Missense 52/72 - 1
1-215960026-G-A c.10373C>T p.T3458M Missense 52/72 - 1
1-215960026-G-C c.10373C>G p.T3458R Missense 52/72 - 1
1-215960032-A-G c.10367T>C p.V3456A Missense 52/72 - 1
1-215960033-C-T c.10366G>A p.V3456I Missense 52/72 - 1
1-215960034-A-C c.10365T>G p.S3455R Missense 52/72 - 1
1-215960035-C-A c.10364G>T p.S3455I Missense 52/72 - 1
1-215960041-G-C c.10358C>G p.T3453R Missense 52/72 - 1
1-215960044-T-C c.10355A>G p.H3452R Missense 52/72 - 1
1-215960042-TATGA-T c.10353_10356del p.H3452Qfs*4 Frameshift 52/72 - 1
1-215960048-T-C c.10351A>G p.I3451V Missense 52/72 - 1
1-215960050-G-A c.10349C>T p.T3450I Missense 52/72 - 1
1-215960050-G-C c.10349C>G p.T3450S Missense 52/72 - 1
1-215960057-C-T c.10342G>A p.E3448K Missense 52/72 - 8
1-215960058-G-T c.10341C>A p.A3447= Synonymous 52/72 - 1
1-215960058-G-C c.10341C>G p.A3447= Synonymous 52/72 - 1
1-215960058-G-A c.10341C>T p.A3447= Synonymous 52/72 - 1
1-215960065-G-T c.10334C>A p.S3445* Nonsense 52/72 - 1
1-215960066-A-G c.10333T>C p.S3445P Missense 52/72 - 1
1-215960068-C-A c.10331G>T p.C3444F Missense 52/72 - 1
1-215960068-C-G c.10331G>C p.C3444S Missense 52/72 - 1
1-215960068-C-T c.10331G>A p.C3444Y Missense 52/72 - 1
1-215960077-T-C c.10322A>G p.E3441G Missense 52/72 - 1
1-215960081-T-C c.10318A>G p.I3440V Missense 52/72 - 1
1-215960086-G-A c.10313C>T p.A3438V Missense 52/72 - 1
1-215960087-C-T c.10312G>A p.A3438T Missense 52/72 - 3
1-215960087-C-A c.10312G>T p.A3438S Missense 52/72 - 1
1-215960087-C-G c.10312G>C p.A3438P Missense 52/72 - 1
1-215960101-T-C c.10298A>G p.N3433S Missense 52/72 - 1
1-215960105-G-A c.10294C>T p.H3432Y Missense 52/72 - 1
1-215960108-A-C c.10291T>G p.S3431A Missense 52/72 - 1
1-215960108-A-G c.10291T>C p.S3431P Missense 52/72 - 1
1-215960110-C-G c.10289G>C p.G3430A Missense 52/72 - 1
1-215960125-C-CGA c.10273_10274insTC p.C3425Ffs*4 Frameshift 52/72 - 2
1-215960125-C-A c.10274G>T p.C3425F Missense 52/72 - 1
1-215960125-C-G c.10274G>C p.C3425S Missense 52/72 - 1
1-215960133-G-T c.10266C>A p.S3422R Missense 52/72 - 1
1-215960138-T-A c.10261A>T p.T3421S Missense 52/72 - 1
1-215960138-T-G c.10261A>C p.T3421P Missense 52/72 - 1
1-215960140-A-G c.10259T>C p.F3420S Missense 52/72 - 1
1-215960141-A-G c.10258T>C p.F3420L Missense 52/72 - 1
1-215960142-G-T c.10257C>A p.N3419K Missense 52/72 - 1
1-215960143-T-G c.10256A>C p.N3419T Missense 52/72 - 1
1-215960144-TGAA-T c.10252_10254del p.F3418del InFrameDeletion 52/72 - 1
1-215960149-T-A c.10250A>T p.D3417V Missense 52/72 - 1
1-215960149-T-C c.10250A>G p.D3417G Missense 52/72 - 1
1-215960149-T-G c.10250A>C p.D3417A Missense 52/72 - 1
1-215960151-A-C c.10248T>G p.C3416W Missense 52/72 - 1
1-215960151-A-G c.10248T>C p.C3416= Synonymous 52/72 - 1
1-215960152-C-T c.10247G>A p.C3416Y Missense 52/72 - 1
1-215960153-A-C c.10246T>G p.C3416G Missense 52/72 - 5
1-215960156-T-A c.10243A>T p.R3415W Missense 52/72 - 1
1-215960158-C-T c.10241G>A p.G3414D Missense 52/72 - 1
1-215960165-G-A c.10234C>T p.H3412Y Missense 52/72 - 1
1-215960167-T-G c.10232A>C p.E3411A Missense 52/72 - 16
1-215960182-G-A c.10217C>T p.S3406F Missense 52/72 - 1
1-215960182-G-C c.10217C>G p.S3406C Missense 52/72 - 1
1-215960183-A-G c.10216T>C p.S3406P Missense 52/72 - 1
1-215960188-G-A c.10211C>T p.P3404L Missense 52/72 - 1
1-215960191-C-T c.10208G>A p.C3403Y Missense 52/72 - 1
1-215960197-A-G c.10202T>C p.I3401T Missense 52/72 - 2
1-215960200-C-A c.10199G>T p.R3400M Missense 52/72 - 1
1-215960200-C-T c.10199G>A p.R3400K Missense 52/72 - 1
1-215960203-C-A c.10196G>T p.C3399F Missense 52/72 - 1
1-215960203-C-T c.10196G>A p.C3399Y Missense 52/72 - 1
1-215960205-C-A c.10194G>T p.E3398D Missense 52/72 - 1
1-215960205-C-T c.10194G>A p.E3398= Synonymous 52/72 - 1
1-215960207-CTT-C c.10190_10191del p.K3397Rfs*20 Frameshift 52/72 - 2
1-215960210-T-C c.10189A>G p.K3397E Missense 52/72 - 1
1-215963400-C-T c.10182+1G>A - IntronicSNV - 51/71 1
1-215963401-C-G c.10182G>C p.K3394N Missense 51/72 - 1
1-215963401-C-T c.10182G>A p.K3394= Synonymous 51/72 - 2
1-215963403-T-C c.10180A>G p.K3394E Missense 51/72 - 1
1-215963408-A-T c.10175T>A p.M3392K Missense 51/72 - 1
1-215963410-C-G c.10173G>C p.M3391I Missense 51/72 - 1
1-215963411-A-T c.10172T>A p.M3391K Missense 51/72 - 1
1-215963412-T-C c.10171A>G p.M3391V Missense 51/72 - 1
1-215963417-G-A c.10166C>T p.T3389I Missense 51/72 - 1
1-215963418-T-G c.10165A>C p.T3389P Missense 51/72 - 1
1-215963421-A-G c.10162T>C p.S3388P Missense 51/72 - 1
1-215963423-A-T c.10160T>A p.I3387N Missense 51/72 - 1
1-215963432-G-T c.10151C>A p.S3384Y Missense 51/72 - 2
1-215963432-G-A c.10151C>T p.S3384F Missense 51/72 - 1
1-215963450-G-C c.10133C>G p.P3378R Missense 51/72 - 1
1-215963451-G-T c.10132C>A p.P3378T Missense 51/72 - 1
1-215963455-A-T c.10128T>A p.Y3376* Nonsense 51/72 - 1
1-215963456-T-C c.10127A>G p.Y3376C Missense 51/72 - 1
1-215963457-A-C c.10126T>G p.Y3376D Missense 51/72 - 1
1-215963459-C-A c.10124G>T p.G3375V Missense 51/72 - 1
1-215963463-C-G c.10120G>C p.V3374L Missense 51/72 - 1
1-215963463-C-T c.10120G>A p.V3374I Missense 51/72 - 1
1-215963467-A-T c.10116T>A p.N3372K Missense 51/72 - 1
1-215963475-A-C c.10108T>G p.C3370G Missense 51/72 - 1
1-215963481-G-A c.10102C>T p.Q3368* Nonsense 51/72 - 2
1-215963490-GAATA-G c.10089_10092del p.I3364Qfs*15 Frameshift 51/72 - 1
1-215963496-G-A c.10087C>T p.L3363F Missense 51/72 - 1
1-215963506-A-C c.10077T>G p.C3359W Missense 51/72 - 1
1-215963509-G-T c.10074C>A p.C3358* Nonsense 51/72 - 1
1-215963510-C-T c.10073G>A p.C3358Y Missense 51/72 - 24
1-215963516-A-G c.10067T>C p.V3356A Missense 51/72 - 1
1-215963519-G-A c.10064C>T p.P3355L Missense 51/72 - 1
1-215963520-G-A c.10063C>T p.P3355S Missense 51/72 - 1
1-215963522-A-T c.10061T>A p.V3354E Missense 51/72 - 1
1-215963524-C-A c.10059G>T p.P3353= Synonymous 51/72 - 1
1-215963524-C-T c.10059G>A p.P3353= Synonymous 51/72 - 1
1-215963524-C-G c.10059G>C p.P3353= Synonymous 51/72 - 1
1-215963525-G-A c.10058C>T p.P3353L Missense 51/72 - 2
1-215963527-G-C c.10056C>G p.D3352E Missense 51/72 - 1
1-215963530-A-T c.10053T>A p.N3351K Missense 51/72 - 1
1-215963543-T-C c.10040A>G p.H3347R Missense 51/72 - 1
1-215963556-C-G c.10027G>C p.E3343Q Missense 51/72 - 1
1-215963558-C-A c.10025G>T p.G3342V Missense 51/72 - 1
1-215963573-C-A c.10010G>T p.C3337F Missense 51/72 - 1
1-215963575-G-T c.10008C>A p.C3336* Nonsense 51/72 - 2
1-215963575-G-C c.10008C>G p.C3336W Missense 51/72 - 1
1-215963579-A-G c.10004T>C p.I3335T Missense 51/72 - 1
1-215963580-T-G c.10003A>C p.I3335L Missense 51/72 - 1
1-215963582-G-A c.10001C>T p.T3334I Missense 51/72 - 1
1-215963584-A-C c.9999T>G p.D3333E Missense 51/72 - 1
1-215963585-T-C c.9998A>G p.D3333G Missense 51/72 - 2
1-215963586-C-T c.9997G>A p.D3333N Missense 51/72 - 1
1-215963591-A-T c.9992T>A p.M3331K Missense 51/72 - 1
1-215963594-T-A c.9989A>T p.N3330I Missense 51/72 - 2
1-215963597-A-G c.9986T>C p.V3329A Missense 51/72 - 1
1-215963603-T-A c.9980A>T p.D3327V Missense 51/72 - 1
1-215963610-C-G c.9973G>C p.G3325R Missense 51/72 - 1
1-215963610-C-T c.9973G>A p.G3325R Missense 51/72 - 1
1-215963616-A-C c.9967T>G p.C3323G Missense 51/72 - 2
1-215963619-A-G c.9964T>C p.F3322L Missense 51/72 - 1
1-215963622-T-C c.9961A>G p.M3321V Missense 51/72 - 1
1-215963624-C-T c.9959G>A p.G3320D Missense 51/72 - 1
1-215968078-A-G c.9958+4171T>C - IntronicSNV - 50/71 1
1-215968078-A-T c.9958+4171T>A - IntronicSNV - 50/71 1
1-215969990-C-T c.9958+2259G>A - IntronicSNV - 50/71 1
1-215970771-A-G c.9958+1478T>C - IntronicSNV - 50/71 1
1-215971402-G-A c.9958+847C>T - IntronicSNV - 50/71 1
1-215971402-G-T c.9958+847C>A - IntronicSNV - 50/71 1
1-215972121-T-C c.9958+128A>G - IntronicSNV - 50/71 1
1-215972180-G-A c.9958+69C>T - IntronicSNV - 50/71 2
1-215972249-C-A c.9958G>T p.G3320C Missense 50/72 - 3
1-215972251-G-A c.9956C>T p.P3319L Missense 50/72 - 1
1-215972254-A-G c.9953T>C p.L3318P Missense 50/72 - 1
1-215972257-C-T c.9950G>A p.R3317H Missense 50/72 - 1
1-215972258-G-A c.9949C>T p.R3317C Missense 50/72 - 1
1-215972260-T-A c.9947A>T p.N3316I Missense 50/72 - 1
1-215972260-T-C c.9947A>G p.N3316S Missense 50/72 - 1
1-215972266-A-C c.9941T>G p.V3314G Missense 50/72 - 1
1-215972266-A-G c.9941T>C p.V3314A Missense 50/72 - 1
1-215972274-T-A c.9933A>T p.E3311D Missense 50/72 - 1
1-215972279-C-T c.9928G>A p.E3310K Missense 50/72 - 1
1-215972285-C-T c.9922G>A p.G3308S Missense 50/72 - 1
1-215972286-A-C c.9921T>G p.C3307W Missense 50/72 - 3
1-215972288-A-T c.9919T>A p.C3307S Missense 50/72 - 1
1-215972289-A-C c.9918T>G p.C3306W Missense 50/72 - 1
1-215972290-C-T c.9917G>A p.C3306Y Missense 50/72 - 1
1-215972292-C-G c.9915G>C p.E3305D Missense 50/72 - 1
1-215972293-T-G c.9914A>C p.E3305A Missense 50/72 - 1
1-215972294-C-G c.9913G>C p.E3305Q Missense 50/72 - 1
1-215972294-C-CT c.9912dup p.E3305Rfs*41 Frameshift 50/72 - 1
1-215972300-C-G c.9907G>C p.D3303H Missense 50/72 - 1
1-215972300-C-T c.9907G>A p.D3303N Missense 50/72 - 1
1-215972303-T-C c.9904A>G p.N3302D Missense 50/72 - 1
1-215972309-C-T c.9898G>A p.V3300M Missense 50/72 - 1
1-215972321-C-T c.9886G>A p.G3296S Missense 50/72 - 1
1-215972322-A-T c.9885T>A p.C3295* Nonsense 50/72 - 1
1-215972322-A-C c.9885T>G p.C3295W Missense 50/72 - 1
1-215972323-C-T c.9884G>A p.C3295Y Missense 50/72 - 1
1-215972325-G-C c.9882C>G p.C3294W Missense 50/72 - 5
1-215972327-A-T c.9880T>A p.C3294S Missense 50/72 - 1
1-215972336-C-T c.9871G>A p.G3291S Missense 50/72 - 4
1-215972336-C-G c.9871G>C p.G3291R Missense 50/72 - 1
1-215972341-C-A c.9866G>T p.G3289V Missense 50/72 - 1
1-215972341-C-T c.9866G>A p.G3289D Missense 50/72 - 1
1-215972356-C-T c.9851G>A p.G3284E Missense 50/72 - 1
1-215972357-C-A c.9850G>T p.G3284W Missense 50/72 - 1
1-215972357-C-T c.9850G>A p.G3284R Missense 50/72 - 1
1-215972360-C-A c.9847G>T p.A3283S Missense 50/72 - 1
1-215972361-A-T c.9846T>A p.C3282* Nonsense 50/72 - 1
1-215972363-A-G c.9844T>C p.C3282R Missense 50/72 - 1
1-215972365-C-A c.9842G>T p.C3281F Missense 50/72 - 3
1-215972378-C-T c.9829G>A p.G3277R Missense 50/72 - 1
1-215972387-A-T c.9820T>A p.S3274T Missense 50/72 - 1
1-215972392-G-A c.9815C>T p.P3272L Missense 50/72 - 13
1-215972394-C-A c.9813G>T p.M3271I Missense 50/72 - 1
1-215972394-C-T c.9813G>A p.M3271I Missense 50/72 - 1
1-215972395-AT-A c.9811del p.M3271Cfs*30 Frameshift 50/72 - 2
1-215972397-T-G c.9810A>C p.R3270S Missense 50/72 - 1
1-215972401-C-T c.9806G>A p.G3269D Missense 50/72 - 1
1-215972408-A-G c.9799T>C p.C3267R Missense 50/72 - 20
1-215972422-C-A c.9785G>T p.G3262V Missense 50/72 - 1
1-215972432-C-A c.9775G>T p.V3259F Missense 50/72 - 1
1-215972434-C-T c.9773G>A p.R3258Q Missense 50/72 - 1
1-215972435-G-A c.9772C>T p.R3258W Missense 50/72 - 1
1-215972437-T-C c.9770A>G p.N3257S Missense 50/72 - 1
1-215972436-A-AT c.9770dup p.N3257Kfs*9 Frameshift 50/72 - 1
1-215972446-T-G c.9761A>C p.E3254A Missense 50/72 - 1
1-215972454-A-T c.9753T>A p.C3251* Nonsense 50/72 - 1
1-215972455-C-T c.9752G>A p.C3251Y Missense 50/72 - 1
1-215972456-A-G c.9751T>C p.C3251R Missense 50/72 - 4
1-215972458-C-T c.9749G>A p.C3250Y Missense 50/72 - 1
1-215972483-A-T c.9740-16T>A - IntronicSNV - 49/71 1
1-215972980-A-T c.9740-513T>A - IntronicSNV - 49/71 1
1-215973131-C-A c.9740-664G>T - IntronicSNV - 49/71 1
1-215974593-A-G c.9740-2126T>C - IntronicSNV - 49/71 1
1-215978592-G-A c.9740-6125C>T - IntronicSNV - 49/71 1
1-215978592-G-T c.9740-6125C>A - IntronicSNV - 49/71 1
1-215978891-T-C c.9740-6424A>G - IntronicSNV - 49/71 1
1-215981038-G-A c.9739+6040C>T - IntronicSNV - 49/71 1
1-215981542-T-C c.9739+5536A>G - IntronicSNV - 49/71 1
1-215982435-C-T c.9739+4643G>A - IntronicSNV - 49/71 1
1-215984842-C-A c.9739+2236G>T - IntronicSNV - 49/71 1
1-215985470-G-A c.9739+1608C>T - IntronicSNV - 49/71 1
1-215985617-C-T c.9739+1461G>A - IntronicSNV - 49/71 1
1-215987072-C-T c.9739+6G>A - IntronicSNV - 49/71 1
1-215987087-T-G c.9730A>C p.I3244L Missense 49/72 - 1
1-215987092-G-T c.9725C>A p.A3242D Missense 49/72 - 1
1-215987093-C-T c.9724G>A p.A3242T Missense 49/72 - 1
1-215987094-G-T c.9723C>A p.Y3241* Nonsense 49/72 - 1
1-215987094-G-C c.9723C>G p.Y3241* Nonsense 49/72 - 1
1-215987098-T-A c.9719A>T p.Y3240F Missense 49/72 - 1
1-215987101-C-G c.9716G>C p.G3239A Missense 49/72 - 1
1-215987107-C-A c.9710G>T p.C3237F Missense 49/72 - 1
1-215987112-C-A c.9705G>T p.Q3235H Missense 49/72 - 1
1-215987116-T-C c.9701A>G p.H3234R Missense 49/72 - 1
1-215987122-G-T c.9695C>A p.P3232Q Missense 49/72 - 1
1-215987128-G-T c.9689C>A p.A3230E Missense 49/72 - 1
1-215987129-C-A c.9688G>T p.A3230S Missense 49/72 - 1
1-215987129-C-T c.9688G>A p.A3230T Missense 49/72 - 1
1-215987133-C-T c.9684G>A p.Q3228= Synonymous 49/72 - 1
1-215987138-T-G c.9679A>C p.I3227L Missense 49/72 - 1
1-215987140-C-G c.9677G>C p.R3226P Missense 49/72 - 1
1-215987140-C-T c.9677G>A p.R3226Q Missense 49/72 - 1
1-215987141-G-A c.9676C>T p.R3226* Nonsense 49/72 - 6
1-215987146-C-T c.9671G>A p.G3224D Missense 49/72 - 1
1-215987152-C-A c.9665G>T p.C3222F Missense 49/72 - 1
1-215987152-C-T c.9665G>A p.C3222Y Missense 49/72 - 1
1-215987162-T-C c.9655A>G p.T3219A Missense 49/72 - 1
1-215987170-A-C c.9647T>G p.L3216R Missense 49/72 - 1
1-215987171-G-C c.9646C>G p.L3216V Missense 49/72 - 1
1-215987171-G-T c.9646C>A p.L3216M Missense 49/72 - 1
1-215987179-G-T c.9638C>A p.P3213Q Missense 49/72 - 1
1-215987179-G-A c.9638C>T p.P3213L Missense 49/72 - 1
1-215987180-G-C c.9637C>G p.P3213A Missense 49/72 - 1
1-215987187-C-T c.9630G>A p.K3210= Synonymous 49/72 - 1
1-215987203-C-T c.9614G>A p.R3205H Missense 49/72 - 1
1-215987204-G-A c.9613C>T p.R3205C Missense 49/72 - 1
1-215987206-T-C c.9611A>G p.H3204R Missense 49/72 - 3
1-215987213-G-C c.9604C>G p.P3202A Missense 49/72 - 1
1-215987222-T-C c.9595A>G p.N3199D Missense 49/72 - 6
1-215987224-T-A c.9593A>T p.Y3198F Missense 49/72 - 1
1-215987224-T-C c.9593A>G p.Y3198C Missense 49/72 - 1
1-215987224-T-G c.9593A>C p.Y3198S Missense 49/72 - 1
1-215987234-C-T c.9583G>A p.G3195R Missense 49/72 - 1
1-215987243-A-C c.9574T>G p.C3192G Missense 49/72 - 1
1-215987246-C-T c.9571G>A p.V3191I Missense 49/72 - 1
1-215987255-T-C c.9571-9A>G - IntronicSNV - 48/71 1
1-215988310-G-C c.9571-1064C>G - IntronicSNV - 48/71 1
1-215988310-G-T c.9571-1064C>A - IntronicSNV - 48/71 1
1-215988582-G-A c.9571-1336C>T - IntronicSNV - 48/71 1
1-215988815-G-A c.9570+1524C>T - IntronicSNV - 48/71 1
1-215988815-G-T c.9570+1524C>A - IntronicSNV - 48/71 1
1-215990338-C-T c.9570+1G>A - IntronicSNV - 48/71 4
1-215990344-C-A c.9565G>T p.A3189S Missense 48/72 - 1
1-215990354-A-C c.9555T>G p.Y3185* Nonsense 48/72 - 1
1-215990360-A-C c.9549T>G p.I3183M Missense 48/72 - 1
1-215990363-G-A c.9546C>T p.H3182= Synonymous 48/72 - 1
1-215990363-G-C c.9546C>G p.H3182Q Missense 48/72 - 1
1-215990364-T-C c.9545A>G p.H3182R Missense 48/72 - 1
1-215990370-C-G c.9539G>C p.C3180S Missense 48/72 - 1
1-215990373-A-G c.9536T>C p.I3179T Missense 48/72 - 1
1-215990378-T-A c.9531A>T p.E3177D Missense 48/72 - 1
1-215990379-T-G c.9530A>C p.E3177A Missense 48/72 - 1
1-215990382-G-A c.9527C>T p.P3176L Missense 48/72 - 1
1-215990382-G-T c.9527C>A p.P3176H Missense 48/72 - 1
1-215990391-C-T c.9518G>A p.C3173Y Missense 48/72 - 1
1-215990397-A-G c.9512T>C p.V3171A Missense 48/72 - 1
1-215990405-G-T c.9504C>A p.C3168* Nonsense 48/72 - 1
1-215990406-C-A c.9503G>T p.C3168F Missense 48/72 - 1
1-215990406-C-T c.9503G>A p.C3168Y Missense 48/72 - 1
1-215990407-A-G c.9502T>C p.C3168R Missense 48/72 - 1
1-215990411-C-G c.9498G>C p.E3166D Missense 48/72 - 1
1-215990414-A-G c.9495T>C p.D3165= Synonymous 48/72 - 1
1-215990417-A-T c.9492T>A p.S3164R Missense 48/72 - 1
1-215990421-T-C c.9488A>G p.Q3163R Missense 48/72 - 1
1-215990422-G-A c.9487C>T p.Q3163* Nonsense 48/72 - 1
1-215990422-G-T c.9487C>A p.Q3163K Missense 48/72 - 1
1-215990423-A-T c.9486T>A p.D3162E Missense 48/72 - 1
1-215990428-G-C c.9481C>G p.Q3161E Missense 48/72 - 1
1-215990430-A-T c.9479T>A p.V3160E Missense 48/72 - 1
1-215990431-C-T c.9478G>A p.V3160M Missense 48/72 - 1
1-215990438-T-A c.9471A>T p.Q3157H Missense 48/72 - 1
1-215990438-T-C c.9471A>G p.Q3157= Synonymous 48/72 - 1
1-215990440-G-A c.9469C>T p.Q3157* Nonsense 48/72 - 7
1-215990440-G-C c.9469C>G p.Q3157E Missense 48/72 - 1
1-215990441-A-T c.9468T>A p.T3156= Synonymous 48/72 - 3
1-215990445-T-C c.9464A>G p.K3155R Missense 48/72 - 1
1-215990447-A-T c.9462T>A p.A3154= Synonymous 48/72 - 1
1-215990447-A-G c.9462T>C p.A3154= Synonymous 48/72 - 1
1-215990447-A-C c.9462T>G p.A3154= Synonymous 48/72 - 1
1-215990448-G-C c.9461C>G p.A3154G Missense 48/72 - 1
1-215990449-C-A c.9460G>T p.A3154S Missense 48/72 - 1
1-215990449-C-T c.9460G>A p.A3154T Missense 48/72 - 1
1-215990450-G-T c.9459C>A p.C3153* Nonsense 48/72 - 3
1-215990455-G-A c.9454C>T p.P3152S Missense 48/72 - 1
1-215990456-A-T c.9453T>A p.Y3151* Nonsense 48/72 - 1
1-215990456-A-C c.9453T>G p.Y3151* Nonsense 48/72 - 1
1-215990457-T-A c.9452A>T p.Y3151F Missense 48/72 - 1
1-215990458-A-G c.9451T>C p.Y3151H Missense 48/72 - 1
1-215990459-C-T c.9450G>A p.W3150* Nonsense 48/72 - 2
1-215990469-CCATA-C c.9437_9440del p.L3146Rfs*13 Frameshift 48/72 - 1
1-215990470-A-G c.9439T>C p.W3147R Missense 48/72 - 1
1-215990470-A-C c.9439T>G p.W3147G Missense 48/72 - 1
1-215990472-A-AT c.9436_9437insA p.L3146Hfs*10 Frameshift 48/72 - 1
1-215990472-AGGAG-TCCTATGGAATGGATATGATCTCCT c.9433_9437delinsAGGAGATCATATCCATTCCATAGGA p.L3145Rfs*22 Frameshift 48/72 - 1
1-215990471-TAGGAG-T c.9433_9437del p.L3145Mfs*9 Frameshift 48/72 - 1
1-215990476-G-A c.9433C>T p.L3145F Missense 48/72 - 6
1-215990479-C-T c.9430G>A p.D3144N Missense 48/72 - 6
1-215990483-T-A c.9426A>T p.G3142= Synonymous 48/72 - 1
1-215990483-T-C c.9426A>G p.G3142= Synonymous 48/72 - 1
1-215990483-T-G c.9426A>C p.G3142= Synonymous 48/72 - 1
1-215990483-TCC-CCA c.9424_9426delinsTGG p.G3142W Missense 48/72 - 1
1-215990483-TCC-GCT c.9424_9426delinsAGC p.G3142S Missense 48/72 - 1
1-215990484-CC-AG c.9424_9425delinsCT p.G3142L Missense 48/72 - 1
1-215990485-C-A c.9424G>T p.G3142* Nonsense 48/72 - 14
1-215990485-C-T c.9424G>A p.G3142R Missense 48/72 - 1
1-215990485-C-G c.9424G>C p.G3142R Missense 48/72 - 2
1-215990491-T-C c.9418A>G p.I3140V Missense 48/72 - 1
1-215990494-T-C c.9415A>G p.I3139V Missense 48/72 - 1
1-215990496-C-G c.9413G>C p.G3138A Missense 48/72 - 1
1-215990496-C-T c.9413G>A p.G3138D Missense 48/72 - 1
1-215990503-G-T c.9406C>A p.P3136T Missense 48/72 - 1
1-215990508-C-T c.9401G>A p.R3134Q Missense 48/72 - 2
1-215990508-C-G c.9401G>C p.R3134P Missense 48/72 - 1
1-215990509-G-A c.9400C>T p.R3134W Missense 48/72 - 1
1-215990514-G-C c.9395C>G p.S3132C Missense 48/72 - 1
1-215990517-A-C c.9392T>G p.V3131G Missense 48/72 - 1
1-215990518-C-G c.9391G>C p.V3131L Missense 48/72 - 1
1-215990520-C-A c.9389G>T p.W3130L Missense 48/72 - 1
1-215990521-A-C c.9388T>G p.W3130G Missense 48/72 - 1
1-215990521-A-G c.9388T>C p.W3130R Missense 48/72 - 1
1-215990522-A-C c.9387T>G p.D3129E Missense 48/72 - 1
1-215990524-C-G c.9385G>C p.D3129H Missense 48/72 - 1
1-215990535-G-T c.9374C>A p.S3125Y Missense 48/72 - 1
1-215990536-A-G c.9373T>C p.S3125P Missense 48/72 - 1
1-215990733-T-A c.9372-196A>T - IntronicSNV - 47/71 1
1-215992060-G-C c.9372-1523C>G - IntronicSNV - 47/71 1
1-215992211-T-A c.9372-1674A>T - IntronicSNV - 47/71 1
1-215992860-A-G c.9372-2323T>C - IntronicSNV - 47/71 1
1-215994806-T-C c.9372-4269A>G - IntronicSNV - 47/71 1
1-215995439-G-A c.9372-4902C>T - IntronicSNV - 47/71 1
1-215996395-T-A c.9372-5858A>T - IntronicSNV - 47/71 1
1-215998400-G-A c.9372-7863C>T - IntronicSNV - 47/71 1
1-215999611-T-C c.9372-9074A>G - IntronicSNV - 47/71 1
1-215999733-C-T c.9372-9196G>A - IntronicSNV - 47/71 1
1-216002713-G-A c.9371+8620C>T - IntronicSNV - 47/71 1
1-216003716-G-A c.9371+7617C>T - IntronicSNV - 47/71 1
1-216004375-A-G c.9371+6958T>C - IntronicSNV - 47/71 1
1-216005368-T-C c.9371+5965A>G - IntronicSNV - 47/71 3
1-216005846-C-G c.9371+5487G>C - IntronicSNV - 47/71 1
1-216008102-C-T c.9371+3231G>A - IntronicSNV - 47/71 1
1-216009305-C-A c.9371+2028G>T - IntronicSNV - 47/71 1
1-216009305-C-T c.9371+2028G>A - IntronicSNV - 47/71 1
1-216010377-T-C c.9371+956A>G - IntronicSNV - 47/71 1
1-216011332-C-A c.9371+1G>T - IntronicSNV - 47/71 1
1-216011332-C-G c.9371+1G>C - IntronicSNV - 47/71 4
1-216011334-T-C c.9370A>G p.R3124G Missense 47/72 - 2
1-216011339-G-T c.9365C>A p.T3122N Missense 47/72 - 1
1-216011348-C-T c.9356G>A p.R3119H Missense 47/72 - 1
1-216011349-G-A c.9355C>T p.R3119C Missense 47/72 - 2
1-216011349-G-T c.9355C>A p.R3119S Missense 47/72 - 1
1-216011358-G-T c.9346C>A p.P3116T Missense 47/72 - 2
1-216011361-T-C c.9343A>G p.T3115A Missense 47/72 - 6
1-216011364-G-A c.9340C>T p.P3114S Missense 47/72 - 4
1-216011366-A-G c.9338T>C p.I3113T Missense 47/72 - 1
1-216011370-C-A c.9334G>T p.D3112Y Missense 47/72 - 1
1-216011376-G-C c.9328C>G p.P3110A Missense 47/72 - 1
1-216011376-G-A c.9328C>T p.P3110S Missense 47/72 - 1
1-216011385-C-A c.9319G>T p.E3107* Nonsense 47/72 - 1
1-216011393-G-A c.9311C>T p.T3104I Missense 47/72 - 1
1-216011394-T-G c.9310A>C p.T3104P Missense 47/72 - 1
1-216011397-T-C c.9307A>G p.I3103V Missense 47/72 - 1
1-216011400-G-A c.9304C>T p.Q3102* Nonsense 47/72 - 1
1-216011402-G-T c.9302C>A p.T3101N Missense 47/72 - 1
1-216011404-T-C c.9300A>G p.G3100= Synonymous 47/72 - 1
1-216011405-C-T c.9299G>A p.G3100E Missense 47/72 - 1
1-216011408-T-C c.9296A>G p.N3099S Missense 47/72 - 6
1-216011413-T-G c.9291A>C p.K3097N Missense 47/72 - 1
1-216011417-A-T c.9287T>A p.V3096E Missense 47/72 - 1
1-216011418-C-T c.9286G>A p.V3096M Missense 47/72 - 3
1-216011421-A-C c.9283T>G p.C3095G Missense 47/72 - 1
1-216011429-A-C c.9275T>G p.I3092R Missense 47/72 - 1
1-216011429-A-G c.9275T>C p.I3092T Missense 47/72 - 1
1-216011430-T-C c.9274A>G p.I3092V Missense 47/72 - 1
1-216011432-G-A c.9272C>T p.T3091I Missense 47/72 - 1
1-216011434-G-T c.9270C>A p.C3090* Nonsense 47/72 - 3
1-216011439-C-T c.9265G>A p.V3089I Missense 47/72 - 2
1-216011442-C-T c.9262G>A p.E3088K Missense 47/72 - 7
1-216011442-CA-C c.9261del p.E3088Kfs*9 Frameshift 47/72 - 1
1-216011445-C-T c.9259G>A p.V3087I Missense 47/72 - 2
1-216012743-A-G c.9259-1298T>C - IntronicSNV - 46/71 1
1-216012743-A-T c.9259-1298T>A - IntronicSNV - 46/71 1
1-216013040-C-A c.9259-1595G>T - IntronicSNV - 46/71 1
1-216013576-G-A c.9259-2131C>T - IntronicSNV - 46/71 1
1-216013576-G-T c.9259-2131C>A - IntronicSNV - 46/71 1
1-216014657-C-A c.9258+2979G>T - IntronicSNV - 46/71 1
1-216015741-G-A c.9258+1895C>T - IntronicSNV - 46/71 1
1-216015809-C-A c.9258+1827G>T - IntronicSNV - 46/71 1
1-216016259-G-A c.9258+1377C>T - IntronicSNV - 46/71 1
1-216016299-A-C c.9258+1337T>G - IntronicSNV - 46/71 1
1-216016299-A-G c.9258+1337T>C - IntronicSNV - 46/71 1
1-216016596-C-G c.9258+1040G>C - IntronicSNV - 46/71 1
1-216016596-C-T c.9258+1040G>A - IntronicSNV - 46/71 1
1-216017635-C-T c.9258+1G>A - IntronicSNV - 46/71 2
1-216017635-C-A c.9258+1G>T - IntronicSNV - 46/71 1
1-216017636-C-A c.9258G>T p.Q3086H Missense 46/72 - 1
1-216017644-C-T c.9250G>A p.D3084N Missense 46/72 - 1
1-216017646-T-A c.9248A>T p.Y3083F Missense 46/72 - 1
1-216017646-T-C c.9248A>G p.Y3083C Missense 46/72 - 1
1-216017648-G-C c.9246C>G p.I3082M Missense 46/72 - 1
1-216017650-T-C c.9244A>G p.I3082V Missense 46/72 - 3
1-216017652-G-A c.9242C>T p.T3081I Missense 46/72 - 1
1-216017654-G-T c.9240C>A p.F3080L Missense 46/72 - 1
1-216017664-A-G c.9230T>C p.L3077P Missense 46/72 - 1
1-216017666-G-A c.9228C>T p.D3076= Synonymous 46/72 - 1
1-216017666-G-T c.9228C>A p.D3076E Missense 46/72 - 1
1-216017681-C-T c.9213G>A p.S3071= Synonymous 46/72 - 1
1-216017682-G-A c.9212C>T p.S3071L Missense 46/72 - 1
1-216017689-G-A c.9205C>T p.P3069S Missense 46/72 - 1
1-216017691-A-G c.9203T>C p.V3068A Missense 46/72 - 2
1-216017691-CA-C c.9203del p.V3068Gfs*7 Frameshift 46/72 - 1
1-216017696-C-A c.9198G>T p.M3066I Missense 46/72 - 1
1-216017696-C-T c.9198G>A p.M3066I Missense 46/72 - 1
1-216017700-C-G c.9194G>C p.G3065A Missense 46/72 - 1
1-216017708-G-T c.9186C>A p.Y3062* Nonsense 46/72 - 1
1-216017708-G-C c.9186C>G p.Y3062* Nonsense 46/72 - 1
1-216017713-G-A c.9181C>T p.L3061F Missense 46/72 - 1
1-216017714-C-A c.9180G>T p.K3060N Missense 46/72 - 1
1-216017725-CATAG-C c.9165_9168del p.I3055Mfs*2 Frameshift 46/72 - 1
1-216017738-C-G c.9156G>C p.E3052D Missense 46/72 - 1
1-216017746-C-A c.9148G>T p.V3050F Missense 46/72 - 1
1-216017751-C-G c.9143G>C p.G3048A Missense 46/72 - 1
1-216017751-C-T c.9143G>A p.G3048D Missense 46/72 - 1
1-216017752-C-T c.9142G>A p.G3048S Missense 46/72 - 1
1-216017755-T-C c.9139A>G p.N3047D Missense 46/72 - 1
1-216017766-G-A c.9128C>T p.P3043L Missense 46/72 - 1
1-216017774-C-T c.9120G>A p.W3040* Nonsense 46/72 - 1
1-216017775-C-T c.9119G>A p.W3040* Nonsense 46/72 - 3
1-216017776-A-G c.9118T>C p.W3040R Missense 46/72 - 1
1-216017778-A-G c.9116T>C p.I3039T Missense 46/72 - 1
1-216017784-C-T c.9110G>A p.R3037H Missense 46/72 - 1
1-216017785-G-A c.9109C>T p.R3037C Missense 46/72 - 2
1-216017797-T-C c.9097A>G p.S3033G Missense 46/72 - 1
1-216017799-T-C c.9095A>G p.N3032S Missense 46/72 - 1
1-216017801-G-C c.9093C>G p.I3031M Missense 46/72 - 1
1-216017808-A-G c.9086T>C p.V3029A Missense 46/72 - 1
1-216017812-C-A c.9082G>T p.V3028F Missense 46/72 - 3
1-216017815-C-A c.9079G>T p.E3027* Nonsense 46/72 - 3
1-216017823-A-T c.9071T>A p.L3024H Missense 46/72 - 1
1-216017836-G-C c.9058C>G p.P3020A Missense 46/72 - 1
1-216017840-T-C c.9056-2A>G - IntronicSNV - 45/71 1
1-216019171-T-C c.9050A>G p.D3017G Missense 45/72 - 1
1-216019172-C-T c.9049G>A p.D3017N Missense 45/72 - 2
1-216019173-G-T c.9048C>A p.C3016* Nonsense 45/72 - 1
1-216019174-C-T c.9047G>A p.C3016Y Missense 45/72 - 1
1-216019180-G-T c.9041C>A p.T3014N Missense 45/72 - 4
1-216019180-G-A c.9041C>T p.T3014I Missense 45/72 - 1
1-216019183-G-C c.9038C>G p.A3013G Missense 45/72 - 1
1-216019184-C-T c.9037G>A p.A3013T Missense 45/72 - 1
1-216019185-A-C c.9036T>G p.H3012Q Missense 45/72 - 1
1-216019185-A-G c.9036T>C p.H3012= Synonymous 45/72 - 1
1-216019186-T-C c.9035A>G p.H3012R Missense 45/72 - 1
1-216019190-G-C c.9031C>G p.L3011V Missense 45/72 - 1
1-216019192-C-T c.9029G>A p.G3010E Missense 45/72 - 1
1-216019195-G-A c.9026C>T p.A3009V Missense 45/72 - 1
1-216019196-C-T c.9025G>A p.A3009T Missense 45/72 - 1
1-216019204-A-T c.9017T>A p.I3006N Missense 45/72 - 1
1-216019206-G-A c.9015C>T p.S3005= Synonymous 45/72 - 1
1-216019206-G-T c.9015C>A p.S3005R Missense 45/72 - 1
1-216019207-C-G c.9014G>C p.S3005T Missense 45/72 - 1
1-216019213-A-G c.9008T>C p.V3003A Missense 45/72 - 2
1-216019214-C-T c.9007G>A p.V3003I Missense 45/72 - 1
1-216019216-C-A c.9005G>T p.G3002V Missense 45/72 - 1
1-216019219-T-C c.9002A>G p.N3001S Missense 45/72 - 1
1-216019228-G-C c.8993C>G p.S2998C Missense 45/72 - 1
1-216019236-G-C c.8985C>G p.I2995M Missense 45/72 - 1
1-216019237-A-T c.8984T>A p.I2995N Missense 45/72 - 1
1-216019237-A-C c.8984T>G p.I2995S Missense 45/72 - 1
1-216019240-C-T c.8981G>A p.W2994* Nonsense 45/72 - 3
1-216019241-A-G c.8980T>C p.W2994R Missense 45/72 - 1
1-216019247-C-A c.8974G>T p.E2992* Nonsense 45/72 - 1
1-216019247-CTG-C c.8972_8973del p.T2991Rfs*61 Frameshift 45/72 - 1
1-216019266-GC-G c.8954del p.G2985Afs*3 Frameshift 45/72 - 1
1-216019270-A-G c.8951T>C p.I2984T Missense 45/72 - 1
1-216019271-T-A c.8950A>T p.I2984F Missense 45/72 - 1
1-216019276-T-A c.8945A>T p.H2982L Missense 45/72 - 2
1-216019277-G-A c.8944C>T p.H2982Y Missense 45/72 - 1
1-216019279-G-A c.8942C>T p.S2981F Missense 45/72 - 1
1-216019284-T-C c.8937A>G p.V2979= Synonymous 45/72 - 1
1-216019286-C-T c.8935G>A p.V2979I Missense 45/72 - 1
1-216019287-A-C c.8934T>G p.D2978E Missense 45/72 - 1
1-216019287-A-AT c.8933dup p.D2978Efs*75 Frameshift 45/72 - 1
1-216019288-T-C c.8933A>G p.D2978G Missense 45/72 - 1
1-216019306-AG-A c.8915del p.S2972Ffs*2 Frameshift 45/72 - 1
1-216019302-TAG-T c.8917_8918del p.L2973Kfs*79 Frameshift 45/72 - 2
1-216019315-G-C c.8906C>G p.S2969* Nonsense 45/72 - 2
1-216019316-A-T c.8905T>A p.S2969T Missense 45/72 - 1
1-216019328-T-C c.8893A>G p.S2965G Missense 45/72 - 1
1-216019330-C-CA c.8890dup p.W2964Lfs*89 Frameshift 45/72 - 1
1-216019336-A-G c.8885T>C p.L2962P Missense 45/72 - 1
1-216019337-G-C c.8884C>G p.L2962V Missense 45/72 - 1
1-216019337-G-T c.8884C>A p.L2962I Missense 45/72 - 1
1-216019340-T-A c.8881A>T p.T2961S Missense 45/72 - 1
1-216019340-T-C c.8881A>G p.T2961A Missense 45/72 - 1
1-216019353-T-C c.8868A>G p.E2956= Synonymous 45/72 - 1
1-216019353-T-G c.8868A>C p.E2956D Missense 45/72 - 1
1-216019357-C-T c.8864G>A p.G2955D Missense 45/72 - 1
1-216019359-T-A c.8862A>T p.Q2954H Missense 45/72 - 1
1-216019360-T-A c.8861A>T p.Q2954L Missense 45/72 - 1
1-216019360-T-C c.8861A>G p.Q2954R Missense 45/72 - 1
1-216019363-A-G c.8858T>C p.L2953P Missense 45/72 - 1
1-216019370-G-C c.8851C>G p.Q2951E Missense 45/72 - 1
1-216019372-A-G c.8849T>C p.V2950A Missense 45/72 - 1
1-216019373-C-G c.8848G>C p.V2950L Missense 45/72 - 1
1-216019373-C-T c.8848G>A p.V2950I Missense 45/72 - 1
1-216020536-C-G c.8846-1161G>C - IntronicSNV - 44/71 1
1-216021952-G-A c.8846-2577C>T - IntronicSNV - 44/71 1
1-216021952-G-C c.8846-2577C>G - IntronicSNV - 44/71 1
1-216032737-G-A c.8845+7612C>T - IntronicSNV - 44/71 1
1-216032737-G-T c.8845+7612C>A - IntronicSNV - 44/71 1
1-216033424-TCCACTCACCTTTTGACCTTCTCTGTCATGTTTAATGCATCACAAAAGCCCTCACCAGAA-T c.8845+6867_8845+6925del - Unclassified - 44/71 1
1-216033741-A-C c.8845+6608T>G - IntronicSNV - 44/71 1
1-216034321-C-T c.8845+6028G>A - IntronicSNV - 44/71 1
1-216039721-G-A c.8845+628C>T - IntronicSNV - 44/71 1
1-216040339-GCTTA-G c.8845+6_8845+9del - IntronicDeletion 44/72 44/71 1
1-216040351-G-T c.8843C>A p.P2948Q Missense 44/72 - 1
1-216040352-G-A c.8842C>T p.P2948S Missense 44/72 - 1
1-216040353-T-A c.8841A>T p.K2947N Missense 44/72 - 1
1-216040360-C-T c.8834G>A p.W2945* Nonsense 44/72 - 6
1-216040367-C-T c.8827G>A p.V2943M Missense 44/72 - 2
1-216040370-C-T c.8824G>A p.D2942N Missense 44/72 - 1
1-216040378-G-A c.8816C>T p.T2939I Missense 44/72 - 1
1-216040379-T-C c.8815A>G p.T2939A Missense 44/72 - 1
1-216040383-G-T c.8811C>A p.N2937K Missense 44/72 - 1
1-216040384-T-C c.8810A>G p.N2937S Missense 44/72 - 2
1-216040386-AAGGAC-A c.8803_8807del p.V2935* Frameshift 44/72 - 1
1-216040391-C-CTA c.8802_8803insTA p.V2935* Nonsense 44/72 - 1
1-216040396-G-A c.8798C>T p.A2933V Missense 44/72 - 1
1-216040396-G-C c.8798C>G p.A2933G Missense 44/72 - 1
1-216040396-G-T c.8798C>A p.A2933E Missense 44/72 - 1
1-216040404-A-C c.8790T>G p.N2930K Missense 44/72 - 2
1-216040405-T-A c.8789A>T p.N2930I Missense 44/72 - 1
1-216040405-T-C c.8789A>G p.N2930S Missense 44/72 - 1
1-216040408-G-A c.8786C>T p.A2929V Missense 44/72 - 2
1-216040408-G-C c.8786C>G p.A2929G Missense 44/72 - 1
1-216040411-C-A c.8783G>T p.G2928V Missense 44/72 - 1
1-216040411-C-T c.8783G>A p.G2928E Missense 44/72 - 1
1-216040414-C-T c.8780G>A p.R2927K Missense 44/72 - 1
1-216040416-C-A c.8778G>T p.E2926D Missense 44/72 - 1
1-216040416-C-T c.8778G>A p.E2926= Synonymous 44/72 - 1
1-216040411-CCT-C c.8781_8782del p.G2928Sfs*9 Frameshift 44/72 - 1
1-216040423-A-T c.8771T>A p.L2924H Missense 44/72 - 1
1-216040436-T-C c.8758A>G p.T2920A Missense 44/72 - 1
1-216040438-G-A c.8756C>T p.T2919I Missense 44/72 - 1
1-216040439-T-G c.8755A>C p.T2919P Missense 44/72 - 1
1-216040442-C-A c.8752G>T p.V2918L Missense 44/72 - 1
1-216040447-A-G c.8747T>C p.V2916A Missense 44/72 - 1
1-216040447-A-T c.8747T>A p.V2916E Missense 44/72 - 1
1-216040453-C-T c.8741G>A p.R2914Q Missense 44/72 - 1
1-216040454-G-A c.8740C>T p.R2914* Nonsense 44/72 - 4
1-216040459-G-A c.8735C>T p.P2912L Missense 44/72 - 1
1-216040460-G-C c.8734C>G p.P2912A Missense 44/72 - 1
1-216040462-G-A c.8732C>T p.T2911I Missense 44/72 - 1
1-216040464-A-T c.8730T>A p.F2910L Missense 44/72 - 2
1-216040469-C-A c.8725G>T p.G2909C Missense 44/72 - 1
1-216040469-C-T c.8725G>A p.G2909S Missense 44/72 - 1
1-216040467-AC-A c.8726del p.G2909Vfs*8 Frameshift 44/72 - 1
1-216040471-A-G c.8723T>C p.V2908A Missense 44/72 - 1
1-216040469-CCA-C c.8723_8724del p.V2908Gfs*29 Frameshift 44/72 - 2
1-216040474-C-T c.8720G>A p.S2907N Missense 44/72 - 1
1-216040475-T-C c.8719A>G p.S2907G Missense 44/72 - 1
1-216040475-T-G c.8719A>C p.S2907R Missense 44/72 - 1
1-216040474-CTGT-C c.8717_8719del p.N2906del InFrameDeletion 44/72 - 1
1-216040478-T-A c.8716A>T p.N2906Y Missense 44/72 - 1
1-216040478-T-C c.8716A>G p.N2906D Missense 44/72 - 1
1-216040481-G-T c.8713C>A p.H2905N Missense 44/72 - 1
1-216040484-C-G c.8710G>C p.V2904L Missense 44/72 - 1
1-216040484-C-T c.8710G>A p.V2904I Missense 44/72 - 1
1-216040485-G-A c.8709C>T p.F2903= Synonymous 44/72 - 1
1-216040487-A-G c.8707T>C p.F2903L Missense 44/72 - 1
1-216040499-C-T c.8695G>A p.E2899K Missense 44/72 - 1
1-216040501-T-G c.8693A>C p.Y2898S Missense 44/72 - 4
1-216040505-T-C c.8689A>G p.T2897A Missense 44/72 - 1
1-216040512-C-A c.8682G>T p.R2894S Missense 44/72 - 1
1-216040512-C-T c.8682G>A p.R2894= Synonymous 44/72 - 1
1-216040521-T-C c.8682-9A>G - IntronicSNV - 43/71 2
1-216051099-C-A c.8681+1G>T - IntronicSNV - 43/71 1
1-216051100-C-T c.8681G>A p.R2894K Missense 43/72 - 2
1-216051104-T-C c.8677A>G p.S2893G Missense 43/72 - 1
1-216051110-C-A c.8671G>T p.G2891C Missense 43/72 - 1
1-216051115-T-C c.8666A>G p.D2889G Missense 43/72 - 1
1-216051116-C-T c.8665G>A p.D2889N Missense 43/72 - 1
1-216051125-G-A c.8656C>T p.L2886F Missense 43/72 - 10
1-216051134-T-C c.8647A>G p.T2883A Missense 43/72 - 1
1-216051136-C-G c.8645G>C p.G2882A Missense 43/72 - 1
1-216051148-T-C c.8633A>G p.N2878S Missense 43/72 - 1
1-216051149-T-C c.8632A>G p.N2878D Missense 43/72 - 1
1-216051150-G-C c.8631C>G p.H2877Q Missense 43/72 - 1
1-216051153-C-T c.8628G>A p.W2876* Nonsense 43/72 - 1
1-216051157-C-T c.8624G>A p.R2875Q Missense 43/72 - 6
1-216051157-C-A c.8624G>T p.R2875L Missense 43/72 - 1
1-216051158-G-A c.8623C>T p.R2875W Missense 43/72 - 1
1-216051158-G-C c.8623C>G p.R2875G Missense 43/72 - 1
1-216051160-T-A c.8621A>T p.N2874I Missense 43/72 - 1
1-216051160-T-C c.8621A>G p.N2874S Missense 43/72 - 1
1-216051166-T-A c.8615A>T p.D2872V Missense 43/72 - 1
1-216051172-G-A c.8609C>T p.P2870L Missense 43/72 - 1
1-216051175-G-C c.8606C>G p.P2869R Missense 43/72 - 1
1-216051176-G-T c.8605C>A p.P2869T Missense 43/72 - 1
1-216051178-T-C c.8603A>G p.N2868S Missense 43/72 - 1
1-216051177-AT-A c.8603del p.N2868Ifs*6 Frameshift 43/72 - 1
1-216051181-G-A c.8600C>T p.S2867L Missense 43/72 - 2
1-216051184-G-A c.8597C>T p.A2866V Missense 43/72 - 1
1-216051192-C-A c.8589G>T p.Q2863H Missense 43/72 - 1
1-216051197-G-A c.8584C>T p.Q2862* Nonsense 43/72 - 2
1-216051197-G-T c.8584C>A p.Q2862K Missense 43/72 - 1
1-216051205-C-T c.8576G>A p.R2859H Missense 43/72 - 2
1-216051206-G-A c.8575C>T p.R2859C Missense 43/72 - 3
1-216051206-G-T c.8575C>A p.R2859S Missense 43/72 - 1
1-216051215-G-A c.8566C>T p.L2856F Missense 43/72 - 1
1-216051224-T-C c.8559-2A>G - IntronicSNV - 42/71 3
1-216052107-T-C c.8557A>G p.R2853G Missense 42/72 - 1
1-216052107-T-A c.8557A>T p.R2853* Nonsense 42/72 - 3
1-216052112-T-G c.8552A>C p.N2851T Missense 42/72 - 1
1-216052113-T-C c.8551A>G p.N2851D Missense 42/72 - 1
1-216052118-C-A c.8546G>T p.G2849V Missense 42/72 - 3
1-216052119-C-T c.8545G>A p.G2849R Missense 42/72 - 1
1-216052142-C-T c.8522G>A p.W2841* Nonsense 42/72 - 2
1-216052157-T-C c.8507A>G p.Y2836C Missense 42/72 - 1
1-216052158-A-G c.8506T>C p.Y2836H Missense 42/72 - 1
1-216052162-T-A c.8502A>T p.E2834D Missense 42/72 - 1
1-216052164-C-A c.8500G>T p.E2834* Nonsense 42/72 - 1
1-216052166-C-CT c.8497dup p.S2833Kfs*2 Frameshift 42/72 - 1
1-216052178-A-G c.8486T>C p.V2829A Missense 42/72 - 2
1-216052177-CACAG-C c.8483_8486del p.S2828* Frameshift 42/72 - 1
1-216052181-AG-A c.8483del p.S2828Lfs*2 Frameshift 42/72 - 2
1-216052183-C-A c.8481G>T p.L2827F Missense 42/72 - 1
1-216052193-A-G c.8471T>C p.V2824A Missense 42/72 - 1
1-216052200-G-C c.8464C>G p.Q2822E Missense 42/72 - 1
1-216052202-G-A c.8462C>T p.P2821L Missense 42/72 - 1
1-216052206-C-T c.8458G>A p.V2820I Missense 42/72 - 1
1-216052212-G-A c.8452C>T p.P2818S Missense 42/72 - 1
1-216052216-A-T c.8448T>A p.T2816= Synonymous 42/72 - 1
1-216052216-A-C c.8448T>G p.T2816= Synonymous 42/72 - 1
1-216052216-A-G c.8448T>C p.T2816= Synonymous 42/72 - 1
1-216052217-G-A c.8447C>T p.T2816I Missense 42/72 - 1
1-216052221-T-C c.8443A>G p.T2815A Missense 42/72 - 1
1-216052221-T-TA c.8442dup p.T2815Yfs*20 Frameshift 42/72 - 2
1-216052224-C-A c.8440G>T p.V2814F Missense 42/72 - 1
1-216052224-C-T c.8440G>A p.V2814I Missense 42/72 - 1
1-216052226-T-A c.8438A>T p.Y2813F Missense 42/72 - 1
1-216052226-T-C c.8438A>G p.Y2813C Missense 42/72 - 1
1-216052225-ATAGG-A c.8435_8438del p.T2812Mfs*17 Frameshift 42/72 - 1
1-216052233-G-T c.8431C>A p.P2811T Missense 42/72 - 5
1-216052233-G-A c.8431C>T p.P2811S Missense 42/72 - 1
1-216052239-T-A c.8425A>T p.S2809C Missense 42/72 - 1
1-216052244-G-A c.8420C>T p.T2807I Missense 42/72 - 1
1-216052247-C-A c.8417G>T p.C2806F Missense 42/72 - 1
1-216052247-C-T c.8417G>A p.C2806Y Missense 42/72 - 1
1-216052251-C-T c.8413G>A p.G2805R Missense 42/72 - 1
1-216052253-C-T c.8411G>A p.G2804E Missense 42/72 - 1
1-216052257-G-A c.8407C>T p.L2803F Missense 42/72 - 1
1-216052259-T-C c.8405A>G p.Y2802C Missense 42/72 - 1
1-216052262-C-T c.8402G>A p.G2801E Missense 42/72 - 1
1-216052262-CC-TA c.8401_8402delinsTA p.G2801* Nonsense 42/72 - 1
1-216052263-C-A c.8401G>T p.G2801W Missense 42/72 - 2
1-216052266-T-C c.8398A>G p.N2800D Missense 42/72 - 1
1-216052269-C-G c.8395G>C p.G2799R Missense 42/72 - 1
1-216052267-AC-A c.8396del p.G2799Vfs*31 Frameshift 42/72 - 2
1-216052272-C-T c.8392G>A p.G2798R Missense 42/72 - 1
1-216052274-G-A c.8390C>T p.S2797L Missense 42/72 - 1
1-216052275-A-G c.8389T>C p.S2797P Missense 42/72 - 1
1-216052280-G-A c.8384C>T p.A2795V Missense 42/72 - 1
1-216052281-C-A c.8383G>T p.A2795S Missense 42/72 - 1
1-216052283-A-T c.8381T>A p.V2794D Missense 42/72 - 1
1-216052286-A-G c.8378T>C p.I2793T Missense 42/72 - 1
1-216052287-T-G c.8377A>C p.I2793L Missense 42/72 - 1
1-216052292-A-G c.8372T>C p.V2791A Missense 42/72 - 1
1-216052293-C-G c.8371G>C p.V2791L Missense 42/72 - 1
1-216052304-G-A c.8360C>T p.T2787I Missense 42/72 - 1
1-216052304-G-C c.8360C>G p.T2787S Missense 42/72 - 1
1-216052305-T-G c.8359A>C p.T2787P Missense 42/72 - 1
1-216052307-A-G c.8357T>C p.F2786S Missense 42/72 - 2
1-216052310-G-A c.8354C>T p.P2785L Missense 42/72 - 1
1-216052313-A-C c.8351T>G p.I2784S Missense 42/72 - 2
1-216052319-T-G c.8345A>C p.H2782P Missense 42/72 - 1
1-216052320-G-A c.8344C>T p.H2782Y Missense 42/72 - 1
1-216052322-G-A c.8342C>T p.T2781I Missense 42/72 - 2
1-216052325-A-T c.8339T>A p.V2780D Missense 42/72 - 1
1-216052335-CTT-C c.8328_8329del p.Q2778Kfs*10 Frameshift 42/72 - 1
1-216052338-A-G c.8326T>C p.L2776= Synonymous 42/72 - 1
1-216052336-T-C c.8328A>G p.L2776= Synonymous 42/72 - 1
1-216052340-A-C c.8324T>G p.V2775G Missense 42/72 - 1
1-216052340-A-G c.8324T>C p.V2775A Missense 42/72 - 1
1-216052341-C-T c.8323G>A p.V2775M Missense 42/72 - 1
1-216052344-C-T c.8320G>A p.A2774T Missense 42/72 - 3
1-216052344-C-A c.8320G>T p.A2774S Missense 42/72 - 1
1-216052349-G-A c.8315C>T p.T2772I Missense 42/72 - 1
1-216052349-G-T c.8315C>A p.T2772N Missense 42/72 - 1
1-216052358-G-A c.8306C>T p.T2769I Missense 42/72 - 1
1-216052364-G-C c.8300C>G p.T2767S Missense 42/72 - 1
1-216052374-G-T c.8290C>A p.P2764T Missense 42/72 - 1
1-216052377-C-T c.8287G>A p.D2763N Missense 42/72 - 1
1-216052380-G-C c.8284C>G p.P2762A Missense 42/72 - 1
1-216052381-C-T c.8283G>A p.M2761I Missense 42/72 - 1
1-216052382-A-G c.8282T>C p.M2761T Missense 42/72 - 1
1-216052383-T-A c.8281A>T p.M2761L Missense 42/72 - 1
1-216052389-T-A c.8275A>T p.I2759F Missense 42/72 - 1
1-216052389-T-C c.8275A>G p.I2759V Missense 42/72 - 1
1-216052390-C-G c.8274G>C p.E2758D Missense 42/72 - 1
1-216052392-C-G c.8272G>C p.E2758Q Missense 42/72 - 1
1-216052393-A-C c.8271T>G p.Y2757* Nonsense 42/72 - 2
1-216052393-A-T c.8271T>A p.Y2757* Nonsense 42/72 - 1
1-216052394-T-C c.8270A>G p.Y2757C Missense 42/72 - 1
1-216052395-A-G c.8269T>C p.Y2757H Missense 42/72 - 1
1-216052410-C-T c.8254G>A p.G2752R Missense 42/72 - 14
1-216052410-C-G c.8254G>C p.G2752R Missense 42/72 - 3
1-216052423-TG-T c.8240del p.P2747Hfs*22 Frameshift 42/72 - 1
1-216052430-T-C c.8234A>G p.K2745R Missense 42/72 - 1
1-216052432-C-A c.8232G>T p.W2744C Missense 42/72 - 2
1-216052432-C-G c.8232G>C p.W2744C Missense 42/72 - 4
1-216052432-C-T c.8232G>A p.W2744* Nonsense 42/72 - 2
1-216052436-G-A c.8228C>T p.T2743I Missense 42/72 - 1
1-216053570-C-G c.8224-1130G>C - IntronicSNV - 41/71 1
1-216061767-C-T c.8223+1G>A - IntronicSNV - 41/71 1
1-216061769-T-C c.8222A>G p.Q2741R Missense 41/72 - 2
1-216061779-C-T c.8212G>A p.D2738N Missense 41/72 - 3
1-216061784-T-A c.8207A>T p.E2736V Missense 41/72 - 1
1-216061791-C-T c.8200G>A p.V2734M Missense 41/72 - 2
1-216061794-T-C c.8197A>G p.T2733A Missense 41/72 - 1
1-216061803-G-A c.8188C>T p.P2730S Missense 41/72 - 2
1-216061803-G-T c.8188C>A p.P2730T Missense 41/72 - 1
1-216061805-G-A c.8186C>T p.P2729L Missense 41/72 - 1
1-216061805-G-C c.8186C>G p.P2729R Missense 41/72 - 1
1-216061812-C-A c.8179G>T p.V2727L Missense 41/72 - 1
1-216061814-C-T c.8177G>A p.G2726E Missense 41/72 - 2
1-216061814-C-G c.8177G>C p.G2726A Missense 41/72 - 1
1-216061815-C-T c.8176G>A p.G2726R Missense 41/72 - 1
1-216061820-G-C c.8171C>G p.P2724R Missense 41/72 - 1
1-216061823-C-T c.8168G>A p.R2723Q Missense 41/72 - 2
1-216061823-C-G c.8168G>C p.R2723P Missense 41/72 - 1
1-216061824-G-A c.8167C>T p.R2723* Nonsense 41/72 - 7
1-216061835-G-T c.8156C>A p.T2719K Missense 41/72 - 1
1-216061838-G-C c.8153C>G p.T2718S Missense 41/72 - 1
1-216061845-C-T c.8146G>A p.E2716K Missense 41/72 - 1
1-216061850-C-T c.8141G>A p.W2714* Nonsense 41/72 - 1
1-216061854-C-A c.8137G>T p.A2713S Missense 41/72 - 2
1-216061854-C-T c.8137G>A p.A2713T Missense 41/72 - 1
1-216061856-C-T c.8135G>A p.S2712N Missense 41/72 - 1
1-216061859-C-T c.8132G>A p.S2711N Missense 41/72 - 1
1-216061866-T-G c.8125A>C p.T2709P Missense 41/72 - 1
1-216061863-T-TTG c.8126_8127dup p.N2710Qfs*7 Frameshift 41/72 - 1
1-216061868-C-A c.8123G>T p.G2708V Missense 41/72 - 1
1-216061868-C-T c.8123G>A p.G2708D Missense 41/72 - 1
1-216061871-C-T c.8120G>A p.G2707E Missense 41/72 - 1
1-216061875-G-A c.8116C>T p.H2706Y Missense 41/72 - 1
1-216061883-C-T c.8108G>A p.S2703N Missense 41/72 - 1
1-216061886-A-C c.8105T>G p.M2702R Missense 41/72 - 1
1-216061886-A-T c.8105T>A p.M2702K Missense 41/72 - 1
1-216061889-A-G c.8102T>C p.L2701P Missense 41/72 - 1
1-216061893-C-T c.8098G>A p.V2700I Missense 41/72 - 1
1-216061895-C-T c.8096G>A p.R2699Q Missense 41/72 - 1
1-216061896-G-A c.8095C>T p.R2699W Missense 41/72 - 1
1-216061898-T-A c.8093A>T p.Y2698F Missense 41/72 - 1
1-216061904-T-C c.8087A>G p.Y2696C Missense 41/72 - 1
1-216061907-T-C c.8084A>G p.K2695R Missense 41/72 - 1
1-216061908-T-C c.8083A>G p.K2695E Missense 41/72 - 1
1-216061913-C-T c.8078G>A p.W2693* Nonsense 41/72 - 1
1-216061912-C-T c.8079G>A p.W2693* Nonsense 41/72 - 1
1-216061914-A-G c.8077T>C p.W2693R Missense 41/72 - 1
1-216061923-G-T c.8068C>A p.L2690I Missense 41/72 - 1
1-216061923-G-A c.8068C>T p.L2690F Missense 41/72 - 1
1-216061925-G-A c.8066C>T p.A2689V Missense 41/72 - 1
1-216061928-G-A c.8063C>T p.S2688F Missense 41/72 - 2
1-216061938-C-T c.8053G>A p.D2685N Missense 41/72 - 1
1-216061948-C-A c.8043G>T p.M2681I Missense 41/72 - 1
1-216061948-C-T c.8043G>A p.M2681I Missense 41/72 - 1
1-216061950-T-A c.8041A>T p.M2681L Missense 41/72 - 1
1-216061959-T-C c.8032A>G p.S2678G Missense 41/72 - 1
1-216061964-G-A c.8027C>T p.P2676L Missense 41/72 - 1
1-216061970-G-T c.8021C>A p.T2674N Missense 41/72 - 1
1-216061982-G-A c.8009C>T p.T2670I Missense 41/72 - 1
1-216061982-G-C c.8009C>G p.T2670S Missense 41/72 - 1
1-216061989-C-A c.8002G>T p.E2668* Nonsense 41/72 - 1
1-216061991-TCCTTTC-T c.7994_7999del p.G2665_K2666del InFrameDeletion 41/72 - 1
1-216062006-C-T c.7985G>A p.R2662K Missense 41/72 - 1
1-216062007-T-A c.7984A>T p.R2662* Nonsense 41/72 - 1
1-216062022-A-C c.7969T>G p.F2657V Missense 41/72 - 1
1-216062023-AT-A c.7967del p.N2656Ifs*18 Frameshift 41/72 - 1
1-216062028-C-T c.7963G>A p.E2655K Missense 41/72 - 1
1-216062033-A-G c.7958T>C p.L2653S Missense 41/72 - 1
1-216062036-C-G c.7955G>C p.G2652A Missense 41/72 - 1
1-216062039-T-C c.7952A>G p.N2651S Missense 41/72 - 1
1-216062039-T-G c.7952A>C p.N2651T Missense 41/72 - 1
1-216062040-T-C c.7951A>G p.N2651D Missense 41/72 - 1
1-216062042-G-C c.7949C>G p.P2650R Missense 41/72 - 1
1-216062048-G-T c.7943C>A p.T2648N Missense 41/72 - 1
1-216062052-G-A c.7939C>T p.P2647S Missense 41/72 - 1
1-216062052-G-C c.7939C>G p.P2647A Missense 41/72 - 1
1-216062054-G-A c.7937C>T p.P2646L Missense 41/72 - 1
1-216062054-G-T c.7937C>A p.P2646H Missense 41/72 - 1
1-216062055-G-A c.7936C>T p.P2646S Missense 41/72 - 1
1-216062055-G-T c.7936C>A p.P2646T Missense 41/72 - 1
1-216062058-G-T c.7933C>A p.Q2645K Missense 41/72 - 1
1-216062059-C-T c.7932G>A p.W2644* Nonsense 41/72 - 1
1-216062065-T-C c.7926A>G p.I2642M Missense 41/72 - 1
1-216062067-T-C c.7924A>G p.I2642V Missense 41/72 - 1
1-216062076-A-G c.7915T>C p.S2639P Missense 41/72 - 5
1-216062076-A-C c.7915T>G p.S2639A Missense 41/72 - 1
1-216062082-G-A c.7909C>T p.P2637S Missense 41/72 - 1
1-216062084-G-A c.7907C>T p.T2636I Missense 41/72 - 1
1-216062085-T-C c.7906A>G p.T2636A Missense 41/72 - 1
1-216062109-G-GTGTC c.7881_7882insGACA p.P2628Dfs*9 Frameshift 41/72 - 1
1-216062109-G-A c.7882C>T p.P2628S Missense 41/72 - 1
1-216062107-T-TG c.7883dup p.S2629Kfs*7 Frameshift 41/72 - 2
1-216062111-A-G c.7880T>C p.I2627T Missense 41/72 - 1
1-216062111-A-T c.7880T>A p.I2627N Missense 41/72 - 1
1-216062117-T-G c.7874A>C p.E2625A Missense 41/72 - 1
1-216062118-C-T c.7873G>A p.E2625K Missense 41/72 - 1
1-216062120-G-A c.7871C>T p.P2624L Missense 41/72 - 2
1-216062124-C-A c.7867G>T p.A2623S Missense 41/72 - 1
1-216062123-G-GC c.7867dup p.A2623Gfs*13 Frameshift 41/72 - 1
1-216062133-G-A c.7858C>T p.L2620F Missense 41/72 - 1
1-216062135-G-T c.7856C>A p.T2619K Missense 41/72 - 1
1-216062137-C-G c.7854G>C p.W2618C Missense 41/72 - 1
1-216062137-C-T c.7854G>A p.W2618* Nonsense 41/72 - 2
1-216062139-A-G c.7852T>C p.W2618R Missense 41/72 - 1
1-216062147-T-C c.7844A>G p.Q2615R Missense 41/72 - 1
1-216062152-C-A c.7839G>T p.E2613D Missense 41/72 - 4
1-216062152-C-G c.7839G>C p.E2613D Missense 41/72 - 1
1-216062152-C-T c.7839G>A p.E2613= Synonymous 41/72 - 1
1-216062154-C-G c.7837G>C p.E2613Q Missense 41/72 - 1
1-216062159-G-A c.7832C>T p.S2611L Missense 41/72 - 1
1-216062159-G-T c.7832C>A p.S2611* Nonsense 41/72 - 1
1-216062160-A-G c.7831T>C p.S2611P Missense 41/72 - 1
1-216062162-A-G c.7829T>C p.L2610P Missense 41/72 - 1
1-216062163-G-A c.7828C>T p.L2610F Missense 41/72 - 1
1-216062168-C-T c.7823G>A p.C2608Y Missense 41/72 - 1
1-216062174-T-C c.7817A>G p.K2606R Missense 41/72 - 1
1-216062177-G-C c.7814C>G p.S2605* Nonsense 41/72 - 1
1-216062181-T-C c.7810A>G p.T2604A Missense 41/72 - 1
1-216062181-T-G c.7810A>C p.T2604P Missense 41/72 - 1
1-216062182-G-T c.7809C>A p.C2603* Nonsense 41/72 - 1
1-216062186-G-T c.7805C>A p.A2602D Missense 41/72 - 1
1-216062187-C-G c.7804G>C p.A2602P Missense 41/72 - 1
1-216062198-A-C c.7793T>G p.F2598C Missense 41/72 - 1
1-216062202-T-A c.7789A>T p.K2597* Nonsense 41/72 - 1
1-216062204-T-C c.7787A>G p.Y2596C Missense 41/72 - 1
1-216062208-C-T c.7783G>A p.A2595T Missense 41/72 - 1
1-216062220-G-A c.7771C>T p.H2591Y Missense 41/72 - 1
1-216062228-A-G c.7763T>C p.M2588T Missense 41/72 - 1
1-216062232-C-A c.7759G>T p.V2587L Missense 41/72 - 1
1-216062234-G-A c.7757C>T p.T2586I Missense 41/72 - 1
1-216062237-C-A c.7754G>T p.C2585F Missense 41/72 - 1
1-216062243-G-A c.7748C>T p.T2583I Missense 41/72 - 1
1-216062244-T-C c.7747A>G p.T2583A Missense 41/72 - 1
1-216062256-G-A c.7735C>T p.P2579S Missense 41/72 - 1
1-216062262-T-C c.7729A>G p.R2577G Missense 41/72 - 1
1-216062263-C-G c.7728G>C p.L2576F Missense 41/72 - 1
1-216062273-C-T c.7718G>A p.R2573H Missense 41/72 - 5
1-216062273-C-G c.7718G>C p.R2573P Missense 41/72 - 3
1-216062274-G-A c.7717C>T p.R2573C Missense 41/72 - 2
1-216062280-G-A c.7711C>T p.H2571Y Missense 41/72 - 1
1-216062281-T-A c.7710A>T p.L2570= Synonymous 41/72 - 1
1-216062281-T-C c.7710A>G p.L2570= Synonymous 41/72 - 1
1-216062281-T-G c.7710A>C p.L2570= Synonymous 41/72 - 1
1-216062283-G-A c.7708C>T p.L2570= Synonymous 41/72 - 1
1-216062283-G-T c.7708C>A p.L2570I Missense 41/72 - 1
1-216062285-T-A c.7706A>T p.Y2569F Missense 41/72 - 1
1-216062285-T-G c.7706A>C p.Y2569S Missense 41/72 - 1
1-216062286-A-C c.7705T>G p.Y2569D Missense 41/72 - 1
1-216062286-A-G c.7705T>C p.Y2569H Missense 41/72 - 1
1-216062287-A-C c.7704T>G p.I2568M Missense 41/72 - 1
1-216062293-A-G c.7698T>C p.Y2566= Synonymous 41/72 - 1
1-216062293-A-T c.7698T>A p.Y2566* Nonsense 41/72 - 1
1-216062298-G-A c.7693C>T p.H2565Y Missense 41/72 - 1
1-216062301-T-G c.7690A>C p.T2564P Missense 41/72 - 1
1-216062306-A-G c.7685T>C p.V2562A Missense 41/72 - 6
1-216062307-C-A c.7684G>T p.V2562F Missense 41/72 - 1
1-216062307-C-G c.7684G>C p.V2562L Missense 41/72 - 1
1-216062308-C-G c.7683G>C p.G2561= Synonymous 41/72 - 1
1-216062308-C-A c.7683G>T p.G2561= Synonymous 41/72 - 1
1-216062308-C-T c.7683G>A p.G2561= Synonymous 41/72 - 1
1-216062310-C-T c.7681G>A p.G2561R Missense 41/72 - 1
1-216062312-T-C c.7679A>G p.N2560S Missense 41/72 - 1
1-216062318-T-A c.7673A>T p.K2558I Missense 41/72 - 1
1-216062321-C-G c.7670G>C p.R2557T Missense 41/72 - 1
1-216062325-G-C c.7666C>G p.P2556A Missense 41/72 - 1
1-216062326-A-T c.7665T>A p.H2555Q Missense 41/72 - 1
1-216062330-CTGCCAGGTGACCAACAT-C c.7645_7661del p.M2549Afs*3 Frameshift 41/72 - 1
1-216062346-T-A c.7645A>T p.M2549L Missense 41/72 - 1
1-216062348-A-C c.7643T>G p.M2548R Missense 41/72 - 1
1-216062358-T-A c.7633A>T p.K2545* Nonsense 41/72 - 1
1-216062358-T-C c.7633A>G p.K2545E Missense 41/72 - 1
1-216062369-A-G c.7622T>C p.L2541P Missense 41/72 - 1
1-216062375-G-A c.7616C>T p.P2539L Missense 41/72 - 2
1-216062379-G-A c.7612C>T p.P2538S Missense 41/72 - 1
1-216062381-A-T c.7610T>A p.V2537D Missense 41/72 - 1
1-216062382-C-T c.7609G>A p.V2537I Missense 41/72 - 1
1-216062390-C-T c.7601G>A p.G2534E Missense 41/72 - 1
1-216062391-C-T c.7600G>A p.G2534R Missense 41/72 - 1
1-216062396-T-G c.7595A>C p.K2532T Missense 41/72 - 1
1-216062399-G-C c.7595-3C>G - IntronicSNV - 40/71 1
1-216064540-T-C c.7595-2144A>G - IntronicSNV - 40/71 2
1-216073423-C-T c.7588G>A p.E2530K Missense 40/72 - 1
1-216073426-C-T c.7585G>A p.A2529T Missense 40/72 - 1
1-216073427-G-A c.7584C>T p.T2528= Synonymous 40/72 - 1
1-216073432-T-C c.7579A>G p.M2527V Missense 40/72 - 1
1-216073433-G-C c.7578C>G p.F2526L Missense 40/72 - 1
1-216073437-G-A c.7574C>T p.P2525L Missense 40/72 - 1
1-216073438-G-T c.7573C>A p.P2525T Missense 40/72 - 1
1-216073442-C-T c.7569G>A p.W2523* Nonsense 40/72 - 1
1-216073449-C-A c.7562G>T p.S2521I Missense 40/72 - 1
1-216073449-C-G c.7562G>C p.S2521T Missense 40/72 - 1
1-216073451-A-T c.7560T>A p.H2520Q Missense 40/72 - 1
1-216073458-C-G c.7553G>C p.S2518T Missense 40/72 - 2
1-216073459-T-C c.7552A>G p.S2518G Missense 40/72 - 1
1-216073459-T-G c.7552A>C p.S2518R Missense 40/72 - 1
1-216073470-T-C c.7541A>G p.N2514S Missense 40/72 - 1
1-216073470-T-G c.7541A>C p.N2514T Missense 40/72 - 1
1-216073471-T-A c.7540A>T p.N2514Y Missense 40/72 - 1
1-216073471-T-G c.7540A>C p.N2514H Missense 40/72 - 1
1-216073474-A-C c.7537T>G p.S2513A Missense 40/72 - 1
1-216073477-C-T c.7534G>A p.A2512T Missense 40/72 - 1
1-216073480-C-A c.7531G>T p.V2511F Missense 40/72 - 1
1-216073485-C-T c.7526G>A p.R2509Q Missense 40/72 - 1
1-216073486-G-A c.7525C>T p.R2509W Missense 40/72 - 4
1-216073486-GA-G c.7524del p.R2509Gfs*19 Frameshift 40/72 - 4
1-216073491-A-T c.7520T>A p.M2507K Missense 40/72 - 2
1-216073492-T-C c.7519A>G p.M2507V Missense 40/72 - 1
1-216073494-T-C c.7517A>G p.Y2506C Missense 40/72 - 1
1-216073495-A-C c.7516T>G p.Y2506D Missense 40/72 - 1
1-216073503-T-G c.7508A>C p.Y2503S Missense 40/72 - 1
1-216073505-C-T c.7506G>A p.P2502= Synonymous 40/72 - 3
1-216073506-G-A c.7505C>T p.P2502L Missense 40/72 - 1
1-216073510-G-A c.7501C>T p.Q2501* Nonsense 40/72 - 2
1-216073517-A-T c.7494T>A p.S2498R Missense 40/72 - 1
1-216073518-AC-A c.7493del p.S2498Mfs*30 Frameshift 40/72 - 1
1-216073518-C-T c.7493G>A p.S2498N Missense 40/72 - 2
1-216073519-T-A c.7492A>T p.S2498C Missense 40/72 - 2
1-216073519-T-G c.7492A>C p.S2498R Missense 40/72 - 1
1-216073523-T-C c.7488A>G p.E2496= Synonymous 40/72 - 1
1-216073524-T-C c.7487A>G p.E2496G Missense 40/72 - 1
1-216073536-G-T c.7475C>A p.S2492* Nonsense 40/72 - 2
1-216073536-G-A c.7475C>T p.S2492L Missense 40/72 - 1
1-216073539-TGC-T c.7471_7472del p.A2491Ifs*5 Frameshift 40/72 - 1
1-216073539-G-A c.7472C>T p.A2491V Missense 40/72 - 1
1-216073540-C-A c.7471G>T p.A2491S Missense 40/72 - 2
1-216073546-G-C c.7465C>G p.P2489A Missense 40/72 - 1
1-216073556-TA-T c.7454del p.L2485Yfs*9 Frameshift 40/72 - 1
1-216073559-C-A c.7452G>T p.E2484D Missense 40/72 - 1
1-216073559-C-G c.7452G>C p.E2484D Missense 40/72 - 1
1-216074095-ACTCTAGAAATCCATGGGTGGAGTCGCCAGACCTCATCTGGAGTTGGTATCTGGGAGAGC-A c.7394_7451+1del - Unclassified 39/72 - 1
1-216074100-A-C c.7448T>G p.L2483R Missense 39/72 - 1
1-216074106-C-T c.7442G>A p.G2481E Missense 39/72 - 1
1-216074112-G-A c.7436C>T p.T2479I Missense 39/72 - 1
1-216074119-C-G c.7429G>C p.D2477H Missense 39/72 - 1
1-216074119-C-T c.7429G>A p.D2477N Missense 39/72 - 1
1-216074122-C-T c.7426G>A p.G2476S Missense 39/72 - 1
1-216074137-G-A c.7411C>T p.L2471F Missense 39/72 - 1
1-216074142-T-C c.7406A>G p.Y2469C Missense 39/72 - 1
1-216074152-A-G c.7396T>C p.S2466P Missense 39/72 - 1
1-216074158-G-A c.7390C>T p.P2464S Missense 39/72 - 1
1-216074161-C-A c.7387G>T p.A2463S Missense 39/72 - 1
1-216074161-C-T c.7387G>A p.A2463T Missense 39/72 - 1
1-216074165-A-C c.7383T>G p.N2461K Missense 39/72 - 1
1-216074169-C-A c.7379G>T p.R2460L Missense 39/72 - 1
1-216074169-C-T c.7379G>A p.R2460H Missense 39/72 - 2
1-216074170-G-A c.7378C>T p.R2460C Missense 39/72 - 1
1-216074172-G-C c.7376C>G p.A2459G Missense 39/72 - 1
1-216074175-G-T c.7373C>A p.P2458Q Missense 39/72 - 1
1-216074181-G-A c.7367C>T p.S2456F Missense 39/72 - 1
1-216074182-A-C c.7366T>G p.S2456A Missense 39/72 - 1
1-216074184-C-T c.7364G>A p.W2455* Nonsense 39/72 - 1
1-216074188-C-A c.7360G>T p.V2454F Missense 39/72 - 1
1-216074190-A-T c.7358T>A p.V2453D Missense 39/72 - 1
1-216074191-C-T c.7357G>A p.V2453I Missense 39/72 - 1
1-216074192-C-G c.7356G>C p.Q2452H Missense 39/72 - 1
1-216074193-T-G c.7355A>C p.Q2452P Missense 39/72 - 1
1-216074196-A-G c.7352T>C p.L2451P Missense 39/72 - 1
1-216074197-G-A c.7351C>T p.L2451F Missense 39/72 - 1
1-216074198-A-C c.7350T>G p.S2450R Missense 39/72 - 1
1-216074198-A-T c.7350T>A p.S2450R Missense 39/72 - 1
1-216074200-T-G c.7348A>C p.S2450R Missense 39/72 - 2
1-216074205-G-A c.7343C>T p.P2448L Missense 39/72 - 1
1-216074206-G-C c.7342C>G p.P2448A Missense 39/72 - 1
1-216074209-T-C c.7339A>G p.T2447A Missense 39/72 - 1
1-216074209-T-G c.7339A>C p.T2447P Missense 39/72 - 1
1-216074214-G-A c.7334C>T p.S2445F Missense 39/72 - 3
1-216074220-A-C c.7328T>G p.L2443R Missense 39/72 - 1
1-216074220-A-T c.7328T>A p.L2443H Missense 39/72 - 1
1-216074235-A-G c.7313T>C p.V2438A Missense 39/72 - 1
1-216074236-C-T c.7312G>A p.V2438M Missense 39/72 - 1
1-216074241-T-C c.7307A>G p.D2436G Missense 39/72 - 1
1-216074244-G-A c.7304C>T p.P2435L Missense 39/72 - 1
1-216074247-G-A c.7301C>T p.A2434V Missense 39/72 - 1
1-216074247-G-C c.7301C>G p.A2434G Missense 39/72 - 1
1-216074247-G-T c.7301C>A p.A2434D Missense 39/72 - 1
1-216107967-G-A c.7291C>T p.P2431S Missense 38/72 - 1
1-216107973-C-T c.7285G>A p.A2429T Missense 38/72 - 1
1-216107982-T-C c.7276A>G p.I2426V Missense 38/72 - 1
1-216107982-T-G c.7276A>C p.I2426L Missense 38/72 - 1
1-216107984-G-A c.7274C>T p.P2425L Missense 38/72 - 1
1-216107985-G-T c.7273C>A p.P2425T Missense 38/72 - 1
1-216107989-CAGTTA-C c.7265_7269del p.I2422Rfs*38 Frameshift 38/72 - 1
1-216107999-C-G c.7259G>C p.S2420T Missense 38/72 - 1
1-216108002-C-A c.7256G>T p.G2419V Missense 38/72 - 2
1-216108002-C-T c.7256G>A p.G2419D Missense 38/72 - 1
1-216108003-C-T c.7255G>A p.G2419S Missense 38/72 - 1
1-216108006-G-T c.7252C>A p.Q2418K Missense 38/72 - 1
1-216108007-G-T c.7251C>A p.S2417R Missense 38/72 - 1
1-216108012-T-C c.7246A>G p.N2416D Missense 38/72 - 2
1-216108014-G-A c.7244C>T p.S2415L Missense 38/72 - 1
1-216108020-T-C c.7238A>G p.N2413S Missense 38/72 - 2
1-216108020-T-G c.7238A>C p.N2413T Missense 38/72 - 1
1-216108024-C-T c.7234G>A p.V2412M Missense 38/72 - 2
1-216108024-C-G c.7234G>C p.V2412L Missense 38/72 - 1
1-216108028-T-A c.7230A>T p.V2410= Synonymous 38/72 - 1
1-216108029-A-C c.7229T>G p.V2410G Missense 38/72 - 1
1-216108030-C-A c.7228G>T p.V2410L Missense 38/72 - 1
1-216108030-C-T c.7228G>A p.V2410I Missense 38/72 - 1
1-216108035-T-C c.7223A>G p.Y2408C Missense 38/72 - 1
1-216108047-G-A c.7211C>T p.P2404L Missense 38/72 - 1
1-216108050-A-T c.7208T>A p.V2403D Missense 38/72 - 1
1-216108051-ACCAGCCCATCGAT-A c.7195_7207del p.I2399Ffs*10 Frameshift 38/72 - 1
1-216108056-C-T c.7202G>A p.G2401E Missense 38/72 - 1
1-216108059-T-A c.7199A>T p.D2400V Missense 38/72 - 1
1-216108060-TC-T c.7198del p.D2400Mfs*13 Frameshift 38/72 - 1
1-216108060-C-T c.7198G>A p.D2400N Missense 38/72 - 1
1-216108063-TGAGCACCCAAA-T c.7184_7194del p.L2395Hfs*19 Frameshift 38/72 - 3
1-216108075-G-T c.7183C>A p.L2395I Missense 38/72 - 2
1-216108075-G-A c.7183C>T p.L2395F Missense 38/72 - 1
1-216108076-G-T c.7182C>A p.N2394K Missense 38/72 - 1
1-216108084-C-G c.7174G>C p.E2392Q Missense 38/72 - 1
1-216108086-T-C c.7172A>G p.E2391G Missense 38/72 - 1
1-216108087-C-T c.7171G>A p.E2391K Missense 38/72 - 1
1-216108090-C-T c.7168G>A p.G2390R Missense 38/72 - 1
1-216108091-G-A c.7167C>T p.S2389= Synonymous 38/72 - 2
1-216108091-G-T c.7167C>A p.S2389R Missense 38/72 - 1
1-216108092-C-T c.7166G>A p.S2389N Missense 38/72 - 1
1-216108095-T-C c.7163A>G p.Y2388C Missense 38/72 - 1
1-216108098-A-G c.7160T>C p.M2387T Missense 38/72 - 2
1-216108101-A-G c.7157T>C p.V2386A Missense 38/72 - 1
1-216108102-C-A c.7156G>T p.V2386F Missense 38/72 - 1
1-216108102-C-G c.7156G>C p.V2386L Missense 38/72 - 1
1-216108105-T-C c.7153A>G p.K2385E Missense 38/72 - 1
1-216108107-G-C c.7151C>G p.T2384R Missense 38/72 - 1
1-216108113-T-C c.7145A>G p.N2382S Missense 38/72 - 1
1-216108116-A-C c.7142T>G p.L2381R Missense 38/72 - 1
1-216108120-G-A c.7138C>T p.L2380F Missense 38/72 - 2
1-216108122-G-A c.7136C>T p.T2379I Missense 38/72 - 1
1-216108127-G-A c.7131C>T p.N2377= Synonymous 38/72 - 1
1-216108128-T-C c.7130A>G p.N2377S Missense 38/72 - 4
1-216108129-T-C c.7129A>G p.N2377D Missense 38/72 - 1
1-216115238-C-T c.7121-7101G>A - IntronicSNV - 37/71 1
1-216119893-T-C c.7121-11756A>G - IntronicSNV - 37/71 1
1-216121787-C-T c.7121-13650G>A - IntronicSNV - 37/71 1
1-216136620-T-G c.7120+2039A>C - IntronicSNV - 37/71 1
1-216138662-G-A c.7117C>T p.P2373S Missense 37/72 - 1
1-216138662-G-T c.7117C>A p.P2373T Missense 37/72 - 1
1-216138663-G-T c.7116C>A p.D2372E Missense 37/72 - 1
1-216138665-C-G c.7114G>C p.D2372H Missense 37/72 - 1
1-216138665-C-T c.7114G>A p.D2372N Missense 37/72 - 1
1-216138667-A-G c.7112T>C p.V2371A Missense 37/72 - 1
1-216138670-T-C c.7109A>G p.Y2370C Missense 37/72 - 1
1-216138670-T-G c.7109A>C p.Y2370S Missense 37/72 - 1
1-216138674-A-C c.7105T>G p.F2369V Missense 37/72 - 1
1-216138676-A-G c.7103T>C p.I2368T Missense 37/72 - 1
1-216138679-C-T c.7100G>A p.G2367E Missense 37/72 - 1
1-216138680-C-T c.7099G>A p.G2367R Missense 37/72 - 1
1-216138685-A-T c.7094T>A p.F2365Y Missense 37/72 - 1
1-216138692-C-T c.7087G>A p.V2363I Missense 37/72 - 1
1-216138703-TAA-T c.7075_7076del p.L2359Nfs*17 Frameshift 37/72 - 1
1-216138703-A-G c.7076T>C p.L2359S Missense 37/72 - 2
1-216138703-A-C c.7076T>G p.L2359* Nonsense 37/72 - 1
1-216138706-A-G c.7073T>C p.L2358P Missense 37/72 - 1
1-216138711-A-C c.7068T>G p.N2356K Missense 37/72 - 7
1-216138711-A-T c.7068T>A p.N2356K Missense 37/72 - 1
1-216138711-A-G c.7068T>C p.N2356= Synonymous 37/72 - 1
1-216138712-T-C c.7067A>G p.N2356S Missense 37/72 - 3
1-216138715-G-C c.7064C>G p.P2355R Missense 37/72 - 1
1-216138715-G-T c.7064C>A p.P2355H Missense 37/72 - 1
1-216138718-C-T c.7061G>A p.R2354H Missense 37/72 - 2
1-216138718-C-G c.7061G>C p.R2354P Missense 37/72 - 1
1-216138719-G-A c.7060C>T p.R2354C Missense 37/72 - 3
1-216138719-G-T c.7060C>A p.R2354S Missense 37/72 - 1
1-216138724-G-C c.7055C>G p.P2352R Missense 37/72 - 1
1-216138725-G-A c.7054C>T p.P2352S Missense 37/72 - 1
1-216138727-G-C c.7052C>G p.A2351G Missense 37/72 - 1
1-216138731-C-G c.7048G>C p.E2350Q Missense 37/72 - 1
1-216138731-C-T c.7048G>A p.E2350K Missense 37/72 - 1
1-216138733-C-T c.7046G>A p.W2349* Nonsense 37/72 - 1
1-216138733-C-CA c.7045dup p.W2349Lfs*8 Frameshift 37/72 - 1
1-216138735-C-A c.7044G>T p.R2348S Missense 37/72 - 1
1-216138740-C-T c.7039G>A p.V2347M Missense 37/72 - 1
1-216138741-G-A c.7038C>T p.H2346= Synonymous 37/72 - 1
1-216138741-G-T c.7038C>A p.H2346Q Missense 37/72 - 1
1-216138742-T-C c.7037A>G p.H2346R Missense 37/72 - 1
1-216138742-T-G c.7037A>C p.H2346P Missense 37/72 - 1
1-216138743-G-C c.7036C>G p.H2346D Missense 37/72 - 1
1-216138751-C-T c.7028G>A p.R2343Q Missense 37/72 - 1
1-216138752-G-A c.7027C>T p.R2343W Missense 37/72 - 1
1-216138754-G-T c.7025C>A p.S2342Y Missense 37/72 - 1
1-216138760-T-A c.7019A>T p.Q2340L Missense 37/72 - 1
1-216138760-T-G c.7019A>C p.Q2340P Missense 37/72 - 1
1-216138765-T-G c.7014A>C p.K2338N Missense 37/72 - 1
1-216138772-A-G c.7007T>C p.F2336S Missense 37/72 - 1
1-216138778-T-C c.7001A>G p.N2334S Missense 37/72 - 1
1-216138779-T-C c.7000A>G p.N2334D Missense 37/72 - 1
1-216138781-A-G c.6998T>C p.V2333A Missense 37/72 - 4
1-216138784-G-C c.6995C>G p.T2332R Missense 37/72 - 2
1-216138784-G-A c.6995C>T p.T2332I Missense 37/72 - 1
1-216138787-C-T c.6992G>A p.G2331E Missense 37/72 - 1
1-216138790-T-C c.6989A>G p.E2330G Missense 37/72 - 1
1-216138791-C-T c.6988G>A p.E2330K Missense 37/72 - 1
1-216138793-G-T c.6986C>A p.P2329H Missense 37/72 - 3
1-216138796-G-T c.6983C>A p.P2328H Missense 37/72 - 1
1-216138799-G-C c.6980C>G p.A2327G Missense 37/72 - 1
1-216138800-C-T c.6979G>A p.A2327T Missense 37/72 - 1
1-216138803-C-T c.6976G>A p.E2326K Missense 37/72 - 1
1-216138811-C-A c.6968G>T p.R2323L Missense 37/72 - 1
1-216138811-C-T c.6968G>A p.R2323Q Missense 37/72 - 1
1-216138812-G-A c.6967C>T p.R2323* Nonsense 37/72 - 5
1-216138818-C-T c.6961G>A p.E2321K Missense 37/72 - 1
1-216138821-C-T c.6958G>A p.V2320M Missense 37/72 - 1
1-216143974-C-T c.6950G>A p.G2317D Missense 36/72 - 1
1-216143974-CC-TT c.6949_6950delinsAA p.G2317N Missense 36/72 - 1
1-216143987-C-A c.6937G>T p.G2313C Missense 36/72 - 6
1-216143987-C-G c.6937G>C p.G2313R Missense 36/72 - 1
1-216143987-C-T c.6937G>A p.G2313S Missense 36/72 - 1
1-216143990-T-G c.6934A>C p.K2312Q Missense 36/72 - 1
1-216143992-G-A c.6932C>T p.A2311V Missense 36/72 - 1
1-216143994-C-T c.6930G>A p.T2310= Synonymous 36/72 - 1
1-216143995-G-A c.6929C>T p.T2310M Missense 36/72 - 2
1-216143996-T-G c.6928A>C p.T2310P Missense 36/72 - 1
1-216143998-C-A c.6926G>T p.C2309F Missense 36/72 - 1
1-216143999-A-G c.6925T>C p.C2309R Missense 36/72 - 1
1-216143999-A-C c.6925T>G p.C2309G Missense 36/72 - 1
1-216144001-G-T c.6923C>A p.A2308E Missense 36/72 - 1
1-216144008-C-T c.6916G>A p.V2306I Missense 36/72 - 1
1-216144014-A-C c.6910T>G p.F2304V Missense 36/72 - 1
1-216144016-G-A c.6908C>T p.S2303F Missense 36/72 - 2
1-216144018-A-C c.6906T>G p.H2302Q Missense 36/72 - 1
1-216144019-T-C c.6905A>G p.H2302R Missense 36/72 - 1
1-216144020-G-A c.6904C>T p.H2302Y Missense 36/72 - 1
1-216144022-A-G c.6902T>C p.L2301S Missense 36/72 - 1
1-216144025-C-G c.6899G>C p.S2300T Missense 36/72 - 1
1-216144026-T-A c.6898A>T p.S2300C Missense 36/72 - 1
1-216144029-A-C c.6895T>G p.W2299G Missense 36/72 - 1
1-216144034-G-A c.6890C>T p.A2297V Missense 36/72 - 1
1-216144035-C-A c.6889G>T p.A2297S Missense 36/72 - 1
1-216144035-C-T c.6889G>A p.A2297T Missense 36/72 - 1
1-216144037-A-T c.6887T>A p.F2296Y Missense 36/72 - 1
1-216144041-C-T c.6883G>A p.G2295R Missense 36/72 - 2
1-216144041-C-G c.6883G>C p.G2295R Missense 36/72 - 1
1-216144049-C-T c.6875G>A p.R2292H Missense 36/72 - 7
1-216144050-G-A c.6874C>T p.R2292C Missense 36/72 - 1
1-216144050-G-T c.6874C>A p.R2292S Missense 36/72 - 1
1-216144052-T-C c.6872A>G p.Y2291C Missense 36/72 - 1
1-216144052-T-G c.6872A>C p.Y2291S Missense 36/72 - 1
1-216144062-C-A c.6862G>T p.E2288* Nonsense 36/72 - 4
1-216144070-T-C c.6854A>G p.N2285S Missense 36/72 - 2
1-216144073-T-C c.6851A>G p.H2284R Missense 36/72 - 1
1-216144081-T-C c.6843A>G p.I2281M Missense 36/72 - 1
1-216144085-C-A c.6839G>T p.G2280V Missense 36/72 - 1
1-216144086-C-A c.6838G>T p.G2280C Missense 36/72 - 1
1-216144086-C-T c.6838G>A p.G2280S Missense 36/72 - 1
1-216144088-T-C c.6836A>G p.D2279G Missense 36/72 - 1
1-216144089-C-G c.6835G>C p.D2279H Missense 36/72 - 1
1-216144092-G-T c.6832C>A p.L2278I Missense 36/72 - 1
1-216144100-C-T c.6824G>A p.G2275E Missense 36/72 - 1
1-216144109-G-A c.6815C>T p.T2272M Missense 36/72 - 1
1-216144109-G-T c.6815C>A p.T2272K Missense 36/72 - 1
1-216144118-C-G c.6806G>C p.G2269A Missense 36/72 - 1
1-216152442-G-A c.6806-8324C>T - IntronicSNV - 35/71 2
1-216166360-A-G c.6805+2T>C - IntronicSNV - 35/71 1
1-216166361-C-T c.6805+1G>A - IntronicSNV - 35/71 1
1-216166363-A-T c.6804T>A p.N2268K Missense 35/72 - 1
1-216166366-C-T c.6801G>A p.P2267= Synonymous 35/72 - 1
1-216166367-G-A c.6800C>T p.P2267L Missense 35/72 - 3
1-216166368-GATATTC-G c.6793_6798del p.E2265_Y2266del InFrameDeletion 35/72 - 1
1-216166369-ATAT-A c.6795_6797del p.E2265_Y2266delinsD MultiAAMissense 35/72 - 1
1-216166377-G-T c.6790C>A p.P2264T Missense 35/72 - 1
1-216166383-T-C c.6784A>G p.T2262A Missense 35/72 - 1
1-216166388-G-T c.6779C>A p.S2260Y Missense 35/72 - 1
1-216166389-A-G c.6778T>C p.S2260P Missense 35/72 - 1
1-216166398-A-G c.6769T>C p.F2257L Missense 35/72 - 1
1-216166396-A-C c.6771T>G p.F2257L Missense 35/72 - 1
1-216166396-A-T c.6771T>A p.F2257L Missense 35/72 - 1
1-216166401-A-G c.6766T>C p.S2256P Missense 35/72 - 1
1-216166407-G-A c.6760C>T p.P2254S Missense 35/72 - 1
1-216166409-G-A c.6758C>T p.S2253L Missense 35/72 - 1
1-216166415-G-T c.6752C>A p.S2251* Nonsense 35/72 - 1
1-216166415-G-C c.6752C>G p.S2251* Nonsense 35/72 - 1
1-216166416-A-T c.6751T>A p.S2251T Missense 35/72 - 1
1-216166418-T-C c.6749A>G p.H2250R Missense 35/72 - 1
1-216166421-G-T c.6746C>A p.A2249D Missense 35/72 - 1
1-216166422-C-T c.6745G>A p.A2249T Missense 35/72 - 1
1-216166430-G-C c.6737C>G p.A2246G Missense 35/72 - 1
1-216166430-G-T c.6737C>A p.A2246D Missense 35/72 - 1
1-216166437-C-T c.6730G>A p.V2244M Missense 35/72 - 2
1-216166439-C-A c.6728G>T p.G2243V Missense 35/72 - 2
1-216166439-C-G c.6728G>C p.G2243A Missense 35/72 - 1
1-216166439-C-T c.6728G>A p.G2243D Missense 35/72 - 1
1-216166440-C-G c.6727G>C p.G2243R Missense 35/72 - 1
1-216166443-C-T c.6724G>A p.E2242K Missense 35/72 - 2
1-216166445-G-A c.6722C>T p.P2241L Missense 35/72 - 2
1-216166445-G-T c.6722C>A p.P2241H Missense 35/72 - 1
1-216166446-G-A c.6721C>T p.P2241S Missense 35/72 - 1
1-216166446-G-T c.6721C>A p.P2241T Missense 35/72 - 1
1-216166449-T-C c.6718A>G p.I2240V Missense 35/72 - 1
1-216166449-T-G c.6718A>C p.I2240L Missense 35/72 - 1
1-216166452-C-G c.6715G>C p.D2239H Missense 35/72 - 1
1-216166454-T-G c.6713A>C p.E2238A Missense 35/72 - 9
1-216166455-C-T c.6712G>A p.E2238K Missense 35/72 - 1
1-216166456-G-A c.6711C>T p.D2237= Synonymous 35/72 - 2
1-216166456-G-C c.6711C>G p.D2237E Missense 35/72 - 1
1-216166456-G-T c.6711C>A p.D2237E Missense 35/72 - 1
1-216166458-C-A c.6709G>T p.D2237Y Missense 35/72 - 2
1-216166466-G-A c.6701C>T p.A2234V Missense 35/72 - 2
1-216166468-C-G c.6699G>C p.E2233D Missense 35/72 - 1
1-216166469-T-G c.6698A>C p.E2233A Missense 35/72 - 1
1-216166478-T-C c.6689A>G p.E2230G Missense 35/72 - 1
1-216166484-A-T c.6683T>A p.V2228E Missense 35/72 - 4
1-216166487-G-T c.6680C>A p.T2227K Missense 35/72 - 1
1-216166488-T-C c.6679A>G p.T2227A Missense 35/72 - 1
1-216166490-C-T c.6677G>A p.C2226Y Missense 35/72 - 1
1-216166493-C-T c.6674G>A p.G2225E Missense 35/72 - 1
1-216166494-C-T c.6673G>A p.G2225R Missense 35/72 - 1
1-216166497-C-A c.6670G>T p.G2224C Missense 35/72 - 2
1-216166497-C-T c.6670G>A p.G2224S Missense 35/72 - 1
1-216166499-C-T c.6668G>A p.G2223D Missense 35/72 - 1
1-216166502-G-A c.6665C>T p.T2222I Missense 35/72 - 2
1-216166505-C-A c.6662G>T p.C2221F Missense 35/72 - 1
1-216172222-AACTT-A c.6657+3_6657+6del - IntronicDeletion 34/72 34/71 1
1-216172233-A-G c.6653T>C p.L2218P Missense 34/72 - 1
1-216172234-G-A c.6652C>T p.L2218= Synonymous 34/72 - 1
1-216172234-G-T c.6652C>A p.L2218M Missense 34/72 - 1
1-216172240-T-G c.6646A>C p.I2216L Missense 34/72 - 1
1-216172243-G-GA c.6642dup p.L2215Sfs*16 Frameshift 34/72 - 1
1-216172254-C-A c.6632G>T p.G2211V Missense 34/72 - 1
1-216172258-G-A c.6628C>T p.P2210S Missense 34/72 - 2
1-216172258-G-C c.6628C>G p.P2210A Missense 34/72 - 2