IGF1R insulin like growth factor 1 receptor

Canonical transcript: NM_000875

1008 unique variant annotations were identified in 542 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
15-99192754-C-T c.-57C>T - IntergenicSNV 1/21 - 1
15-99192825-C-A c.15C>A p.Ser5Ser Synonymous 1/21 - 1
15-99192825-C-G c.15C>G p.Ser5Ser Synonymous 1/21 - 1
15-99192825-C-T c.15C>T p.Ser5Ser Synonymous 1/21 - 3
15-99192830-G-A c.20G>A p.Gly7Glu Missense 1/21 - 1
15-99192844-TC-GA c.34_35inv p.Ser12Glu Missense 1/21 - 1
15-99192844-T-G c.34T>G p.Ser12Ala Missense 1/21 - 4
15-99192847-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/21 - 1
15-99192868-T-A c.58T>A p.Ser20Thr Missense 1/21 - 1
15-99192872-C-A c.62C>A p.Ala21Asp Missense 1/21 - 1
15-99192874-G-C c.64G>C p.Ala22Pro Missense 1/21 - 1
15-99192874-GC-AT c.64_65delinsAT p.Ala22Met Missense 1/21 - 1
15-99192874-GC-CA c.64_65delinsCA p.Ala22Gln Missense 1/21 - 1
15-99192874-GC-CT c.64_65delinsCT p.Ala22Leu Missense 1/21 - 1
15-99192874-GCG-AAC c.64_66delinsAAC p.Ala22Asn Missense 1/21 - 1
15-99192874-GCG-ATC c.64_66delinsATC p.Ala22Ile Missense 1/21 - 1
15-99192874-GCG-CAT c.64_66delinsCAT p.Ala22His Missense 1/21 - 1
15-99192874-GCG-TTT c.64_66delinsTTT p.Ala22Phe Missense 1/21 - 1
15-99192874-GC-TA c.64_65delinsTA p.Ala22* Nonsense 1/21 - 1
15-99192875-C-A c.65C>A p.Ala22Glu Missense 1/21 - 1
15-99192875-C-G c.65C>G p.Ala22Gly Missense 1/21 - 1
15-99192875-CG-AC c.65_66delinsAC p.Ala22Asp Missense 1/21 - 1
15-99192876-G-A c.66G>A p.Ala22Ala Synonymous 1/21 - 1
15-99192876-G-C c.66G>C p.Ala22Ala Synonymous 1/21 - 1
15-99192876-G-T c.66G>T p.Ala22Ala Synonymous 1/21 - 1
15-99192882-G-A c.72G>A p.Ser24Ser Synonymous 1/21 - 1
15-99192882-G-C c.72G>C p.Ser24Ser Synonymous 1/21 - 2
15-99192882-G-T c.72G>T p.Ser24Ser Synonymous 1/21 - 2
15-99192891-G-A c.81G>A p.Pro27Pro Synonymous 1/21 - 1
15-99192891-G-C c.81G>C p.Pro27Pro Synonymous 1/21 - 1
15-99192891-G-T c.81G>T p.Pro27Pro Synonymous 1/21 - 1
15-99192902-A-C c.92A>C p.Glu31Ala Missense 1/21 - 1
15-99192905-G-A c.94+1G>A - IntronicSNV - 1/20 1
15-99192911-A-G c.94+7A>G - IntronicSNV - 1/20 1
15-99193269-A-G c.94+365A>G - IntronicSNV - 1/20 6
15-99193276-A-C c.94+372A>C - IntronicSNV - 1/20 1
15-99193305-C-CC c.94+401dup - IntronicInsertion - 1/20 1
15-99193524-C-T c.94+620C>T - IntronicSNV - 1/20 1
15-99194896-C-G c.94+1992C>G - IntronicSNV - 1/20 30
15-99195162-C-G c.94+2258C>G - IntronicSNV - 1/20 1
15-99195248-G-A c.94+2344G>A - IntronicSNV - 1/20 1
15-99196112-G-A c.94+3208G>A - IntronicSNV - 1/20 2
15-99196245-C-A c.94+3341C>A - IntronicSNV - 1/20 2
15-99196245-C-T c.94+3341C>T - IntronicSNV - 1/20 2
15-99196936-G-GC c.94+4032_94+4033insC - IntronicInsertion - 1/20 1
15-99197449-T-TG c.94+4545_94+4546insG - IntronicInsertion - 1/20 1
15-99197493-C-G c.94+4589C>G - IntronicSNV - 1/20 1
15-99199212-G-A c.94+6308G>A - IntronicSNV - 1/20 1
15-99199212-G-C c.94+6308G>C - IntronicSNV - 1/20 1
15-99199467-C-A c.94+6563C>A - IntronicSNV - 1/20 1
15-99199467-C-G c.94+6563C>G - IntronicSNV - 1/20 1
15-99199467-C-T c.94+6563C>T - IntronicSNV - 1/20 1
15-99200056-G-A c.94+7152G>A - IntronicSNV - 1/20 1
15-99200467-G-A c.94+7563G>A - IntronicSNV - 1/20 1
15-99200467-G-T c.94+7563G>T - IntronicSNV - 1/20 1
15-99202875-C-T c.94+9971C>T - IntronicSNV - 1/20 4
15-99203445-C-T c.94+10541C>T - IntronicSNV - 1/20 3
15-99203496-C-T c.94+10592C>T - IntronicSNV - 1/20 3
15-99203620-A-G c.94+10716A>G - IntronicSNV - 1/20 1
15-99203860-C-G c.94+10956C>G - IntronicSNV - 1/20 1
15-99204006-G-A c.94+11102G>A - IntronicSNV - 1/20 1
15-99204101-T-A c.94+11197T>A - IntronicSNV - 1/20 2
15-99204101-T-C c.94+11197T>C - IntronicSNV - 1/20 2
15-99204115-C-G c.94+11211C>G - IntronicSNV - 1/20 1
15-99204144-C-G c.94+11240C>G - IntronicSNV - 1/20 1
15-99204144-C-T c.94+11240C>T - IntronicSNV - 1/20 1
15-99204220-A-G c.94+11316A>G - IntronicSNV - 1/20 1
15-99204483-T-A c.94+11579T>A - IntronicSNV - 1/20 1
15-99204483-T-C c.94+11579T>C - IntronicSNV - 1/20 1
15-99205073-C-T c.94+12169C>T - IntronicSNV - 1/20 1
15-99206153-C-G c.94+13249C>G - IntronicSNV - 1/20 1
15-99206153-C-T c.94+13249C>T - IntronicSNV - 1/20 1
15-99206685-G-A c.94+13781G>A - IntronicSNV - 1/20 1
15-99207392-C-G c.94+14488C>G - IntronicSNV - 1/20 4
15-99207392-C-T c.94+14488C>T - IntronicSNV - 1/20 4
15-99207546-G-GG c.94+14642dup - IntronicInsertion - 1/20 1
15-99208039-A-G c.94+15135A>G - IntronicSNV - 1/20 1
15-99208039-A-T c.94+15135A>T - IntronicSNV - 1/20 1
15-99210409-TC-TCTC c.94+17505_94+17506dup - IntronicInsertion - 1/20 1
15-99210597-G-C c.94+17693G>C - IntronicSNV - 1/20 1
15-99210831-C-T c.94+17927C>T - IntronicSNV - 1/20 1
15-99212415-G-A c.94+19511G>A - IntronicSNV - 1/20 1
15-99212485-G-T c.94+19581G>T - IntronicSNV - 1/20 4
15-99212537-A-G c.94+19633A>G - IntronicSNV - 1/20 1
15-99213363-A-T c.94+20459A>T - IntronicSNV - 1/20 1
15-99213551-A-G c.94+20647A>G - IntronicSNV - 1/20 1
15-99213551-A-T c.94+20647A>T - IntronicSNV - 1/20 1
15-99213597-T-C c.94+20693T>C - IntronicSNV - 1/20 1
15-99214986-T-C c.94+22082T>C - IntronicSNV - 1/20 2
15-99215098-G-A c.94+22194G>A - IntronicSNV - 1/20 2
15-99215788-G-A c.94+22884G>A - IntronicSNV - 1/20 1
15-99216146-T-A c.94+23242T>A - IntronicSNV - 1/20 1
15-99216242-T-A c.94+23338T>A - IntronicSNV - 1/20 1
15-99216304-A-G c.94+23400A>G - IntronicSNV - 1/20 4
15-99217474-G-T c.94+24570G>T - IntronicSNV - 1/20 1
15-99219274-G-A c.94+26370G>A - IntronicSNV - 1/20 1
15-99219274-G-T c.94+26370G>T - IntronicSNV - 1/20 1
15-99219598-C-T c.94+26694C>T - IntronicSNV - 1/20 4
15-99219905-C-G c.94+27001C>G - IntronicSNV - 1/20 3
15-99219905-C-T c.94+27001C>T - IntronicSNV - 1/20 3
15-99220013-A-G c.94+27109A>G - IntronicSNV - 1/20 1
15-99222595-T-C c.95-28196T>C - IntronicSNV - 1/20 2
15-99222682-G-A c.95-28109G>A - IntronicSNV - 1/20 1
15-99223695-C-A c.95-27096C>A - IntronicSNV - 1/20 1
15-99224215-T-C c.95-26576T>C - IntronicSNV - 1/20 1
15-99224215-T-G c.95-26576T>G - IntronicSNV - 1/20 1
15-99225386-C-T c.95-25405C>T - IntronicSNV - 1/20 1
15-99226148-C-G c.95-24643C>G - IntronicSNV - 1/20 2
15-99226926-T-TA c.95-23865_95-23864insA - IntronicInsertion - 1/20 1
15-99227435-G-A c.95-23356G>A - IntronicSNV - 1/20 1
15-99227787-G-A c.95-23004G>A - IntronicSNV - 1/20 3
15-99228579-C-G c.95-22212C>G - IntronicSNV - 1/20 1
15-99228773-C-T c.95-22018C>T - IntronicSNV - 1/20 1
15-99229330-G-A c.95-21461G>A - IntronicSNV - 1/20 2
15-99229793-T-C c.95-20998T>C - IntronicSNV - 1/20 1
15-99230263-G-A c.95-20528G>A - IntronicSNV - 1/20 2
15-99230263-G-T c.95-20528G>T - IntronicSNV - 1/20 2
15-99230277-A-C c.95-20514A>C - IntronicSNV - 1/20 1
15-99230335-T-G c.95-20456T>G - IntronicSNV - 1/20 1
15-99231105-G-A c.95-19686G>A - IntronicSNV - 1/20 1
15-99231868-A-G c.95-18923A>G - IntronicSNV - 1/20 1
15-99233945-C-G c.95-16846C>G - IntronicSNV - 1/20 1
15-99233945-C-T c.95-16846C>T - IntronicSNV - 1/20 1
15-99234163-G-C c.95-16628G>C - IntronicSNV - 1/20 1
15-99235051-A-G c.95-15740A>G - IntronicSNV - 1/20 1
15-99235516-G-A c.95-15275G>A - IntronicSNV - 1/20 1
15-99236276-G-A c.95-14515G>A - IntronicSNV - 1/20 6
15-99236502-G-A c.95-14289G>A - IntronicSNV - 1/20 1
15-99236502-G-T c.95-14289G>T - IntronicSNV - 1/20 1
15-99236672-T-A c.95-14119T>A - IntronicSNV - 1/20 1
15-99236672-TT-AG c.95-14119_95-14118delinsAG - IntronicBlockSubstitution - 1/20 1
15-99236673-T-G c.95-14118T>G - IntronicSNV - 1/20 1
15-99236869-T-C c.95-13922T>C - IntronicSNV - 1/20 2
15-99236869-T-G c.95-13922T>G - IntronicSNV - 1/20 2
15-99240481-G-A c.95-10310G>A - IntronicSNV - 1/20 4
15-99240947-G-A c.95-9844G>A - IntronicSNV - 1/20 3
15-99240947-G-C c.95-9844G>C - IntronicSNV - 1/20 3
15-99240993-A-T c.95-9798A>T - IntronicSNV - 1/20 1
15-99241638-A-G c.95-9153A>G - IntronicSNV - 1/20 1
15-99241724-G-T c.95-9067G>T - IntronicSNV - 1/20 1
15-99241862-T-G c.95-8929T>G - IntronicSNV - 1/20 1
15-99242635-T-C c.95-8156T>C - IntronicSNV - 1/20 1
15-99243374-A-G c.95-7417A>G - IntronicSNV - 1/20 1
15-99243374-A-T c.95-7417A>T - IntronicSNV - 1/20 1
15-99243510-T-C c.95-7281T>C - IntronicSNV - 1/20 1
15-99243521-C-G c.95-7270C>G - IntronicSNV - 1/20 1
15-99243521-C-T c.95-7270C>T - IntronicSNV - 1/20 1
15-99245384-G-A c.95-5407G>A - IntronicSNV - 1/20 5
15-99245384-G-T c.95-5407G>T - IntronicSNV - 1/20 5
15-99247291-G-A c.95-3500G>A - IntronicSNV - 1/20 1
15-99247795-G-A c.95-2996G>A - IntronicSNV - 1/20 4
15-99247795-G-T c.95-2996G>T - IntronicSNV - 1/20 4
15-99247941-A-C c.95-2850A>C - IntronicSNV - 1/20 1
15-99248018-C-G c.95-2773C>G - IntronicSNV - 1/20 6
15-99248018-C-T c.95-2773C>T - IntronicSNV - 1/20 6
15-99248041-G-A c.95-2750G>A - IntronicSNV - 1/20 1
15-99248092-G-A c.95-2699G>A - IntronicSNV - 1/20 1
15-99248092-G-C c.95-2699G>C - IntronicSNV - 1/20 1
15-99248132-G-T c.95-2659G>T - IntronicSNV - 1/20 3
15-99249029-C-T c.95-1762C>T - IntronicSNV - 1/20 1
15-99249551-T-G c.95-1240T>G - IntronicSNV - 1/20 1
15-99250304-C-A c.95-487C>A - IntronicSNV - 1/20 1
15-99250304-C-T c.95-487C>T - IntronicSNV - 1/20 1
15-99250793-TG-GC c.97_98delinsGC p.Cys33Ala Missense 2/21 - 6
15-99250797-G-C c.101G>C p.Gly34Ala Missense 2/21 - 1
15-99250815-G-T c.119G>T p.Arg40Leu Missense 2/21 - 2
15-99250822-C-A c.126C>A p.Asp42Glu Missense 2/21 - 1
15-99250822-C-G c.126C>G p.Asp42Glu Missense 2/21 - 1
15-99250824-A-G c.128A>G p.Tyr43Cys Missense 2/21 - 1
15-99250832-CTG-TTT c.136_138delinsTTT p.Leu46Phe Missense 2/21 - 1
15-99250838-CG-AC c.142_143delinsAC p.Arg48Thr Missense 2/21 - 1
15-99250847-AA-GC c.151_152delinsGC p.Asn51Ala Missense 2/21 - 1
15-99250877-ATC-CAA c.181_183delinsCAA p.Ile61Gln Missense 2/21 - 1
15-99250881-T-C c.185T>C p.Leu62Pro Missense 2/21 - 1
15-99250895-G-A c.199G>A p.Ala67Thr Missense 2/21 - 1
15-99250921-C-T c.225C>T p.Phe75Phe Synonymous 2/21 - 1
15-99250946-T-A c.250T>A p.Tyr84Asn Missense 2/21 - 1
15-99250952-C-T c.256C>T p.Leu86Leu Synonymous 2/21 - 1
15-99250955-CTG-ATC c.259_261delinsATC p.Leu87Ile Missense 2/21 - 1
15-99250955-CT-GC c.259_260delinsGC p.Leu87Ala Missense 2/21 - 1
15-99250956-T-C c.260T>C p.Leu87Pro Missense 2/21 - 1
15-99250958-TT-GC c.262_263delinsGC p.Phe88Ala Missense 2/21 - 1
15-99250961-C-T c.265C>T p.Arg89* Nonsense 2/21 - 1
15-99251009-G-C c.313G>C p.Val105Leu Missense 2/21 - 1
15-99251015-C-G c.319C>G p.Arg107Gly Missense 2/21 - 1
15-99251054-TT-GC c.358_359delinsGC p.Phe120Ala Missense 2/21 - 1
15-99251057-G-A c.361G>A p.Glu121Lys Missense 2/21 - 3
15-99251057-G-T c.361G>T p.Glu121* Nonsense 2/21 - 1
15-99251098-G-A c.402G>A p.Arg134Arg Synonymous 2/21 - 2
15-99251098-G-C c.402G>C p.Arg134Ser Missense 2/21 - 2
15-99251109-G-A c.413G>A p.Arg138Gln Missense 2/21 - 1
15-99251114-G-GG c.418dup p.Ala140Glyfs*5 Frameshift 2/21 - 1
15-99251144-TG-AC c.448_449delinsAC p.Cys150Thr Missense 2/21 - 1
15-99251179-G-A c.483G>A p.Leu161Leu Synonymous 2/21 - 1
15-99251181-A-T c.485A>T p.Asp162Val Missense 2/21 - 1
15-99251188-G-A c.492G>A p.Val164Val Synonymous 2/21 - 1
15-99251188-G-T c.492G>T p.Val164Val Synonymous 2/21 - 1
15-99251208-G-T c.512G>T p.Gly171Val Missense 2/21 - 1
15-99251264-C-G c.568C>G p.Pro190Ala Missense 2/21 - 1
15-99251264-C-T c.568C>T p.Pro190Ser Missense 2/21 - 3
15-99251266-G-A c.570G>A p.Pro190Pro Synonymous 2/21 - 1
15-99251266-G-T c.570G>T p.Pro190Pro Synonymous 2/21 - 1
15-99251289-A-G c.593A>G p.Asn198Ser Missense 2/21 - 1
15-99251306-C-A c.610C>A p.Arg204Ser Missense 2/21 - 1
15-99251307-G-A c.611G>A p.Arg204His Missense 2/21 - 2
15-99251315-A-C c.619A>C p.Thr207Pro Missense 2/21 - 1
15-99251356-C-T c.640+20C>T - IntronicSNV - 2/20 7
15-99251864-C-G c.640+528C>G - IntronicSNV - 2/20 1
15-99252088-T-C c.640+752T>C - IntronicSNV - 2/20 1
15-99252110-G-A c.640+774G>A - IntronicSNV - 2/20 1
15-99252581-A-G c.640+1245A>G - IntronicSNV - 2/20 1
15-99253157-A-T c.640+1821A>T - IntronicSNV - 2/20 1
15-99254193-C-T c.640+2857C>T - IntronicSNV - 2/20 1
15-99254554-C-A c.640+3218C>A - IntronicSNV - 2/20 7
15-99254554-C-T c.640+3218C>T - IntronicSNV - 2/20 7
15-99256570-A-G c.640+5234A>G - IntronicSNV - 2/20 5
15-99257047-C-T c.640+5711C>T - IntronicSNV - 2/20 1
15-99257068-T-A c.640+5732T>A - IntronicSNV - 2/20 1
15-99257068-T-G c.640+5732T>G - IntronicSNV - 2/20 1
15-99258043-A-G c.640+6707A>G - IntronicSNV - 2/20 1
15-99258043-A-T c.640+6707A>T - IntronicSNV - 2/20 1
15-99258710-A-C c.640+7374A>C - IntronicSNV - 2/20 9
15-99258710-A-G c.640+7374A>G - IntronicSNV - 2/20 9
15-99258710-A-T c.640+7374A>T - IntronicSNV - 2/20 9
15-99259016-G-A c.640+7680G>A - IntronicSNV - 2/20 2
15-99262040-A-G c.640+10704A>G - IntronicSNV - 2/20 1
15-99262097-G-GG c.640+10761dup - IntronicInsertion - 2/20 1
15-99262580-C-A c.640+11244C>A - IntronicSNV - 2/20 1
15-99262580-C-T c.640+11244C>T - IntronicSNV - 2/20 1
15-99262659-C-T c.640+11323C>T - IntronicSNV - 2/20 1
15-99263047-G-A c.640+11711G>A - IntronicSNV - 2/20 1
15-99263274-T-C c.640+11938T>C - IntronicSNV - 2/20 8
15-99263801-A-G c.640+12465A>G - IntronicSNV - 2/20 5
15-99264767-C-A c.640+13431C>A - IntronicSNV - 2/20 2
15-99266340-C-T c.640+15004C>T - IntronicSNV - 2/20 1
15-99266393-T-C c.640+15057T>C - IntronicSNV - 2/20 1
15-99266406-T-C c.640+15070T>C - IntronicSNV - 2/20 1
15-99266526-T-C c.640+15190T>C - IntronicSNV - 2/20 2
15-99266624-T-C c.640+15288T>C - IntronicSNV - 2/20 1
15-99266634-A-G c.640+15298A>G - IntronicSNV - 2/20 1
15-99267633-T-G c.640+16297T>G - IntronicSNV - 2/20 2
15-99268030-G-A c.640+16694G>A - IntronicSNV - 2/20 1
15-99268259-C-T c.640+16923C>T - IntronicSNV - 2/20 5
15-99268850-C-G c.640+17514C>G - IntronicSNV - 2/20 3
15-99270441-T-C c.640+19105T>C - IntronicSNV - 2/20 1
15-99271135-A-G c.640+19799A>G - IntronicSNV - 2/20 25
15-99272288-A-G c.640+20952A>G - IntronicSNV - 2/20 1
15-99272519-T-A c.640+21183T>A - IntronicSNV - 2/20 2
15-99273032-T-C c.640+21696T>C - IntronicSNV - 2/20 3
15-99273075-C-T c.640+21739C>T - IntronicSNV - 2/20 1
15-99274326-C-T c.640+22990C>T - IntronicSNV - 2/20 2
15-99275008-C-A c.640+23672C>A - IntronicSNV - 2/20 3
15-99275052-T-C c.640+23716T>C - IntronicSNV - 2/20 1
15-99275189-G-C c.640+23853G>C - IntronicSNV - 2/20 1
15-99275189-G-T c.640+23853G>T - IntronicSNV - 2/20 1
15-99276257-C-G c.640+24921C>G - IntronicSNV - 2/20 1
15-99276521-G-T c.640+25185G>T - IntronicSNV - 2/20 1
15-99277770-C-A c.640+26434C>A - IntronicSNV - 2/20 1
15-99279046-G-A c.640+27710G>A - IntronicSNV - 2/20 2
15-99280254-A-G c.640+28918A>G - IntronicSNV - 2/20 3
15-99280981-A-G c.640+29645A>G - IntronicSNV - 2/20 2
15-99281833-C-A c.640+30497C>A - IntronicSNV - 2/20 8
15-99281833-C-G c.640+30497C>G - IntronicSNV - 2/20 8
15-99282558-A-G c.640+31222A>G - IntronicSNV - 2/20 1
15-99282558-A-T c.640+31222A>T - IntronicSNV - 2/20 1
15-99282587-G-A c.640+31251G>A - IntronicSNV - 2/20 3
15-99283110-C-T c.640+31774C>T - IntronicSNV - 2/20 1
15-99283307-C-T c.640+31971C>T - IntronicSNV - 2/20 2
15-99283918-G-A c.640+32582G>A - IntronicSNV - 2/20 4
15-99284074-C-T c.640+32738C>T - IntronicSNV - 2/20 2
15-99284601-A-G c.640+33265A>G - IntronicSNV - 2/20 1
15-99284675-G-A c.640+33339G>A - IntronicSNV - 2/20 1
15-99284680-G-A c.640+33344G>A - IntronicSNV - 2/20 5
15-99285056-C-T c.640+33720C>T - IntronicSNV - 2/20 4
15-99285380-G-A c.640+34044G>A - IntronicSNV - 2/20 1
15-99285630-C-T c.640+34294C>T - IntronicSNV - 2/20 1
15-99286284-A-G c.640+34948A>G - IntronicSNV - 2/20 2
15-99286980-A-G c.640+35644A>G - IntronicSNV - 2/20 2
15-99287170-A-G c.640+35834A>G - IntronicSNV - 2/20 1
15-99287375-T-C c.640+36039T>C - IntronicSNV - 2/20 7
15-99287375-T-G c.640+36039T>G - IntronicSNV - 2/20 7
15-99287462-C-G c.640+36126C>G - IntronicSNV - 2/20 1
15-99287462-C-T c.640+36126C>T - IntronicSNV - 2/20 1
15-99288318-A-G c.640+36982A>G - IntronicSNV - 2/20 1
15-99288477-A-G c.640+37141A>G - IntronicSNV - 2/20 1
15-99289607-G-C c.640+38271G>C - IntronicSNV - 2/20 1
15-99289638-C-G c.640+38302C>G - IntronicSNV - 2/20 1
15-99290067-C-A c.640+38731C>A - IntronicSNV - 2/20 1
15-99290406-T-C c.640+39070T>C - IntronicSNV - 2/20 2
15-99290751-T-C c.640+39415T>C - IntronicSNV - 2/20 1
15-99290975-A-G c.640+39639A>G - IntronicSNV - 2/20 2
15-99290975-A-T c.640+39639A>T - IntronicSNV - 2/20 2
15-99292805-A-C c.640+41469A>C - IntronicSNV - 2/20 1
15-99293056-G-A c.640+41720G>A - IntronicSNV - 2/20 1
15-99293056-G-T c.640+41720G>T - IntronicSNV - 2/20 1
15-99294452-T-C c.640+43116T>C - IntronicSNV - 2/20 1
15-99295570-G-A c.640+44234G>A - IntronicSNV - 2/20 3
15-99296656-C-A c.640+45320C>A - IntronicSNV - 2/20 2
15-99296656-C-T c.640+45320C>T - IntronicSNV - 2/20 2
15-99297503-C-A c.640+46167C>A - IntronicSNV - 2/20 3
15-99297665-T-C c.640+46329T>C - IntronicSNV - 2/20 7
15-99298039-A-G c.640+46703A>G - IntronicSNV - 2/20 1
15-99298234-T-C c.640+46898T>C - IntronicSNV - 2/20 1
15-99298257-T-C c.640+46921T>C - IntronicSNV - 2/20 1
15-99298508-T-C c.640+47172T>C - IntronicSNV - 2/20 1
15-99300189-A-G c.640+48853A>G - IntronicSNV - 2/20 1
15-99301451-A-T c.640+50115A>T - IntronicSNV - 2/20 1
15-99301535-G-A c.640+50199G>A - IntronicSNV - 2/20 7
15-99301535-G-T c.640+50199G>T - IntronicSNV - 2/20 7
15-99305455-T-C c.640+54119T>C - IntronicSNV - 2/20 1
15-99305467-C-T c.640+54131C>T - IntronicSNV - 2/20 1
15-99307109-A-C c.640+55773A>C - IntronicSNV - 2/20 1
15-99307950-C-A c.640+56614C>A - IntronicSNV - 2/20 3
15-99308094-C-G c.640+56758C>G - IntronicSNV - 2/20 1
15-99308094-C-T c.640+56758C>T - IntronicSNV - 2/20 1
15-99308569-A-G c.640+57233A>G - IntronicSNV - 2/20 1
15-99308666-T-C c.640+57330T>C - IntronicSNV - 2/20 2
15-99308729-T-G c.640+57393T>G - IntronicSNV - 2/20 1
15-99309091-T-G c.640+57755T>G - IntronicSNV - 2/20 1
15-99309157-G-GG c.640+57821dup - IntronicInsertion - 2/20 1
15-99309542-G-A c.640+58206G>A - IntronicSNV - 2/20 1
15-99309762-G-A c.640+58426G>A - IntronicSNV - 2/20 1
15-99309906-T-A c.640+58570T>A - IntronicSNV - 2/20 1
15-99311861-G-A c.640+60525G>A - IntronicSNV - 2/20 1
15-99311861-G-C c.640+60525G>C - IntronicSNV - 2/20 1
15-99312741-A-G c.640+61405A>G - IntronicSNV - 2/20 5
15-99312741-A-T c.640+61405A>T - IntronicSNV - 2/20 5
15-99312854-A-C c.640+61518A>C - IntronicSNV - 2/20 4
15-99312854-A-G c.640+61518A>G - IntronicSNV - 2/20 4
15-99313481-T-C c.640+62145T>C - IntronicSNV - 2/20 1
15-99313944-G-C c.640+62608G>C - IntronicSNV - 2/20 1
15-99314782-T-C c.640+63446T>C - IntronicSNV - 2/20 4
15-99316678-G-A c.640+65342G>A - IntronicSNV - 2/20 1
15-99317769-T-A c.640+66433T>A - IntronicSNV - 2/20 2
15-99317832-C-G c.640+66496C>G - IntronicSNV - 2/20 1
15-99317832-C-T c.640+66496C>T - IntronicSNV - 2/20 1
15-99318276-G-A c.640+66940G>A - IntronicSNV - 2/20 1
15-99318276-G-T c.640+66940G>T - IntronicSNV - 2/20 1
15-99318961-C-A c.640+67625C>A - IntronicSNV - 2/20 2
15-99318961-C-G c.640+67625C>G - IntronicSNV - 2/20 2
15-99319524-C-T c.640+68188C>T - IntronicSNV - 2/20 1
15-99320262-C-T c.640+68926C>T - IntronicSNV - 2/20 1
15-99321216-C-T c.640+69880C>T - IntronicSNV - 2/20 1
15-99321747-T-C c.640+70411T>C - IntronicSNV - 2/20 2
15-99322300-C-T c.640+70964C>T - IntronicSNV - 2/20 1
15-99323399-T-A c.640+72063T>A - IntronicSNV - 2/20 1
15-99323399-T-G c.640+72063T>G - IntronicSNV - 2/20 1
15-99323443-C-T c.640+72107C>T - IntronicSNV - 2/20 1
15-99323677-C-A c.640+72341C>A - IntronicSNV - 2/20 1
15-99326761-A-G c.640+75425A>G - IntronicSNV - 2/20 5
15-99326761-A-T c.640+75425A>T - IntronicSNV - 2/20 5
15-99326994-T-G c.640+75658T>G - IntronicSNV - 2/20 1
15-99327306-C-T c.640+75970C>T - IntronicSNV - 2/20 1
15-99327711-G-A c.640+76375G>A - IntronicSNV - 2/20 2
15-99327719-A-G c.640+76383A>G - IntronicSNV - 2/20 1
15-99328755-G-GG c.640+77419dup - IntronicInsertion - 2/20 1
15-99329760-A-G c.640+78424A>G - IntronicSNV - 2/20 1
15-99331293-G-C c.640+79957G>C - IntronicSNV - 2/20 1
15-99332172-T-G c.640+80836T>G - IntronicSNV - 2/20 2
15-99332345-A-T c.640+81009A>T - IntronicSNV - 2/20 1
15-99332498-C-A c.640+81162C>A - IntronicSNV - 2/20 1
15-99332498-C-T c.640+81162C>T - IntronicSNV - 2/20 1
15-99334622-A-T c.640+83286A>T - IntronicSNV - 2/20 1
15-99335054-T-C c.640+83718T>C - IntronicSNV - 2/20 1
15-99336630-A-C c.640+85294A>C - IntronicSNV - 2/20 1
15-99336630-A-T c.640+85294A>T - IntronicSNV - 2/20 1
15-99336769-C-T c.640+85433C>T - IntronicSNV - 2/20 2
15-99339250-G-A c.640+87914G>A - IntronicSNV - 2/20 1
15-99339598-T-G c.640+88262T>G - IntronicSNV - 2/20 1
15-99340018-C-T c.640+88682C>T - IntronicSNV - 2/20 1
15-99342609-A-C c.640+91273A>C - IntronicSNV - 2/20 1
15-99343869-A-C c.641-90685A>C - IntronicSNV - 2/20 1
15-99343869-A-G c.641-90685A>G - IntronicSNV - 2/20 1
15-99344881-G-A c.641-89673G>A - IntronicSNV - 2/20 5
15-99344881-G-T c.641-89673G>T - IntronicSNV - 2/20 5
15-99344923-G-A c.641-89631G>A - IntronicSNV - 2/20 2
15-99346413-A-G c.641-88141A>G - IntronicSNV - 2/20 1
15-99349730-C-A c.641-84824C>A - IntronicSNV - 2/20 1
15-99350059-C-A c.641-84495C>A - IntronicSNV - 2/20 1
15-99350059-C-T c.641-84495C>T - IntronicSNV - 2/20 1
15-99351252-T-TT c.641-83302dup - IntronicInsertion - 2/20 1
15-99351917-T-TTTTC c.641-82637_641-82636insTTTC - IntronicInsertion - 2/20 1
15-99352552-C-G c.641-82002C>G - IntronicSNV - 2/20 1
15-99352704-G-A c.641-81850G>A - IntronicSNV - 2/20 1
15-99355266-T-C c.641-79288T>C - IntronicSNV - 2/20 1
15-99355282-A-G c.641-79272A>G - IntronicSNV - 2/20 4
15-99355282-A-T c.641-79272A>T - IntronicSNV - 2/20 4
15-99358612-A-AA c.641-75942dup - IntronicInsertion - 2/20 1
15-99359186-C-G c.641-75368C>G - IntronicSNV - 2/20 1
15-99359186-C-T c.641-75368C>T - IntronicSNV - 2/20 1
15-99359559-A-G c.641-74995A>G - IntronicSNV - 2/20 2
15-99361263-T-C c.641-73291T>C - IntronicSNV - 2/20 2
15-99361459-A-G c.641-73095A>G - IntronicSNV - 2/20 1
15-99362263-T-A c.641-72291T>A - IntronicSNV - 2/20 1
15-99362263-T-C c.641-72291T>C - IntronicSNV - 2/20 1
15-99362301-G-A c.641-72253G>A - IntronicSNV - 2/20 3
15-99362597-G-A c.641-71957G>A - IntronicSNV - 2/20 1
15-99362881-C-A c.641-71673C>A - IntronicSNV - 2/20 1
15-99364370-A-G c.641-70184A>G - IntronicSNV - 2/20 5
15-99364701-C-T c.641-69853C>T - IntronicSNV - 2/20 2
15-99365096-A-G c.641-69458A>G - IntronicSNV - 2/20 1
15-99365509-G-A c.641-69045G>A - IntronicSNV - 2/20 1
15-99365652-A-G c.641-68902A>G - IntronicSNV - 2/20 1
15-99365841-A-C c.641-68713A>C - IntronicSNV - 2/20 1
15-99366172-A-C c.641-68382A>C - IntronicSNV - 2/20 1
15-99366512-A-C c.641-68042A>C - IntronicSNV - 2/20 1
15-99366512-A-G c.641-68042A>G - IntronicSNV - 2/20 1
15-99366526-A-G c.641-68028A>G - IntronicSNV - 2/20 1
15-99366605-A-C c.641-67949A>C - IntronicSNV - 2/20 3
15-99366605-A-G c.641-67949A>G - IntronicSNV - 2/20 3
15-99367967-A-G c.641-66587A>G - IntronicSNV - 2/20 1
15-99368267-T-C c.641-66287T>C - IntronicSNV - 2/20 1
15-99369584-T-C c.641-64970T>C - IntronicSNV - 2/20 1
15-99370975-C-A c.641-63579C>A - IntronicSNV - 2/20 1
15-99370975-C-G c.641-63579C>G - IntronicSNV - 2/20 1
15-99371690-C-T c.641-62864C>T - IntronicSNV - 2/20 1
15-99371807-A-G c.641-62747A>G - IntronicSNV - 2/20 1
15-99372394-G-T c.641-62160G>T - IntronicSNV - 2/20 1
15-99372463-G-A c.641-62091G>A - IntronicSNV - 2/20 1
15-99372463-G-T c.641-62091G>T - IntronicSNV - 2/20 1
15-99372792-G-T c.641-61762G>T - IntronicSNV - 2/20 1
15-99373162-G-A c.641-61392G>A - IntronicSNV - 2/20 1
15-99373193-G-T c.641-61361G>T - IntronicSNV - 2/20 1
15-99373604-C-A c.641-60950C>A - IntronicSNV - 2/20 1
15-99376415-A-G c.641-58139A>G - IntronicSNV - 2/20 1
15-99377654-T-C c.641-56900T>C - IntronicSNV - 2/20 1
15-99379094-G-A c.641-55460G>A - IntronicSNV - 2/20 1
15-99379144-T-G c.641-55410T>G - IntronicSNV - 2/20 4
15-99380023-T-G c.641-54531T>G - IntronicSNV - 2/20 2
15-99380857-A-G c.641-53697A>G - IntronicSNV - 2/20 1
15-99382716-A-T c.641-51838A>T - IntronicSNV - 2/20 1
15-99384201-C-T c.641-50353C>T - IntronicSNV - 2/20 1
15-99384656-A-C c.641-49898A>C - IntronicSNV - 2/20 1
15-99384656-A-G c.641-49898A>G - IntronicSNV - 2/20 1
15-99387261-G-T c.641-47293G>T - IntronicSNV - 2/20 1
15-99391689-C-A c.641-42865C>A - IntronicSNV - 2/20 1
15-99391689-C-T c.641-42865C>T - IntronicSNV - 2/20 1
15-99391740-C-G c.641-42814C>G - IntronicSNV - 2/20 1
15-99391740-C-T c.641-42814C>T - IntronicSNV - 2/20 1
15-99392104-A-G c.641-42450A>G - IntronicSNV - 2/20 1
15-99394862-A-G c.641-39692A>G - IntronicSNV - 2/20 2
15-99396694-T-C c.641-37860T>C - IntronicSNV - 2/20 5
15-99397140-A-G c.641-37414A>G - IntronicSNV - 2/20 1
15-99397217-T-G c.641-37337T>G - IntronicSNV - 2/20 1
15-99398179-A-C c.641-36375A>C - IntronicSNV - 2/20 1
15-99398330-C-T c.641-36224C>T - IntronicSNV - 2/20 1
15-99398708-T-C c.641-35846T>C - IntronicSNV - 2/20 9
15-99400740-G-GG c.641-33814dup - IntronicInsertion - 2/20 1
15-99401590-G-A c.641-32964G>A - IntronicSNV - 2/20 3
15-99403621-C-A c.641-30933C>A - IntronicSNV - 2/20 1
15-99403952-C-T c.641-30602C>T - IntronicSNV - 2/20 1
15-99404021-C-A c.641-30533C>A - IntronicSNV - 2/20 10
15-99405839-C-T c.641-28715C>T - IntronicSNV - 2/20 2
15-99405947-T-C c.641-28607T>C - IntronicSNV - 2/20 2
15-99406245-G-T c.641-28309G>T - IntronicSNV - 2/20 2
15-99407953-T-C c.641-26601T>C - IntronicSNV - 2/20 1
15-99408988-A-G c.641-25566A>G - IntronicSNV - 2/20 1
15-99409388-A-G c.641-25166A>G - IntronicSNV - 2/20 1
15-99409438-C-A c.641-25116C>A - IntronicSNV - 2/20 1
15-99409548-C-T c.641-25006C>T - IntronicSNV - 2/20 4
15-99412554-C-CC c.641-22000dup - IntronicInsertion - 2/20 1
15-99412562-A-G c.641-21992A>G - IntronicSNV - 2/20 5
15-99414403-G-A c.641-20151G>A - IntronicSNV - 2/20 3
15-99414403-G-C c.641-20151G>C - IntronicSNV - 2/20 3
15-99414423-A-C c.641-20131A>C - IntronicSNV - 2/20 6
15-99414445-C-G c.641-20109C>G - IntronicSNV - 2/20 1
15-99414445-C-T c.641-20109C>T - IntronicSNV - 2/20 1
15-99414957-A-G c.641-19597A>G - IntronicSNV - 2/20 1
15-99416644-C-T c.641-17910C>T - IntronicSNV - 2/20 2
15-99416803-A-G c.641-17751A>G - IntronicSNV - 2/20 1
15-99417484-G-T c.641-17070G>T - IntronicSNV - 2/20 1
15-99419502-A-G c.641-15052A>G - IntronicSNV - 2/20 1
15-99419721-G-A c.641-14833G>A - IntronicSNV - 2/20 1
15-99419747-C-CC c.641-14807dup - IntronicInsertion - 2/20 1
15-99421979-T-A c.641-12575T>A - IntronicSNV - 2/20 1
15-99421979-T-C c.641-12575T>C - IntronicSNV - 2/20 1
15-99422131-A-G c.641-12423A>G - IntronicSNV - 2/20 1
15-99422272-G-A c.641-12282G>A - IntronicSNV - 2/20 1
15-99422552-C-G c.641-12002C>G - IntronicSNV - 2/20 1
15-99422552-C-T c.641-12002C>T - IntronicSNV - 2/20 1
15-99422665-A-G c.641-11889A>G - IntronicSNV - 2/20 1
15-99423023-A-G c.641-11531A>G - IntronicSNV - 2/20 4
15-99424603-G-A c.641-9951G>A - IntronicSNV - 2/20 1
15-99424603-G-T c.641-9951G>T - IntronicSNV - 2/20 1
15-99425470-A-G c.641-9084A>G - IntronicSNV - 2/20 2
15-99426556-A-T c.641-7998A>T - IntronicSNV - 2/20 1
15-99427287-A-G c.641-7267A>G - IntronicSNV - 2/20 1
15-99427470-C-T c.641-7084C>T - IntronicSNV - 2/20 1
15-99428279-A-G c.641-6275A>G - IntronicSNV - 2/20 1
15-99428425-G-C c.641-6129G>C - IntronicSNV - 2/20 1
15-99429462-G-A c.641-5092G>A - IntronicSNV - 2/20 8
15-99429749-T-C c.641-4805T>C - IntronicSNV - 2/20 10
15-99430076-A-G c.641-4478A>G - IntronicSNV - 2/20 1
15-99430641-T-C c.641-3913T>C - IntronicSNV - 2/20 1
15-99430659-T-TGAGTT c.641-3895_641-3894insGAGTT - IntronicInsertion - 2/20 1
15-99430948-T-C c.641-3606T>C - IntronicSNV - 2/20 7
15-99431390-C-T c.641-3164C>T - IntronicSNV - 2/20 1
15-99431882-A-T c.641-2672A>T - IntronicSNV - 2/20 1
15-99433376-G-A c.641-1178G>A - IntronicSNV - 2/20 5
15-99434357-G-A c.641-197G>A - IntronicSNV - 2/20 2
15-99434554-T-A c.641T>A p.Met214Lys Missense 3/21 - 1
15-99434559-C-T c.646C>T p.Pro216Ser Missense 3/21 - 1
15-99434577-C-A c.664C>A p.Arg222Arg Synonymous 3/21 - 1
15-99434577-C-T c.664C>T p.Arg222Trp Missense 3/21 - 1
15-99434613-G-A c.700G>A p.Glu234Lys Missense 3/21 - 3
15-99434654-C-T c.741C>T p.Ala247Ala Synonymous 3/21 - 1
15-99434661-G-C c.748G>C p.Ala250Pro Missense 3/21 - 1
15-99434667-C-T c.754C>T p.Arg252Cys Missense 3/21 - 1
15-99434707-C-G c.794C>G p.Pro265Arg Missense 3/21 - 1
15-99434713-A-C c.800A>C p.Asn267Thr Missense 3/21 - 1
15-99434721-AGG-CAT c.808_810delinsCAT p.Arg270His Missense 3/21 - 4
15-99434745-G-C c.832G>C p.Asp278His Missense 3/21 - 1
15-99434752-A-C c.839A>C p.Asp280Ala Missense 3/21 - 1
15-99434759-C-T c.846C>T p.Cys282Cys Synonymous 3/21 - 1
15-99434790-TC-GA c.877_878inv p.Ser293Asp Missense 3/21 - 1
15-99434790-T-G c.877T>G p.Ser293Ala Missense 3/21 - 1
15-99434800-T-C c.887T>C p.Phe296Ser Missense 3/21 - 1
15-99434855-C-A c.942C>A p.Asn314Lys Missense 3/21 - 2
15-99434855-C-T c.942C>T p.Asn314Asn Synonymous 3/21 - 2
15-99434859-AG-GC c.946_947delinsGC p.Ser316Ala Missense 3/21 - 1
15-99434983-A-G c.953+117A>G - IntronicSNV - 3/20 1
15-99435124-G-C c.953+258G>C - IntronicSNV - 3/20 1
15-99435136-C-T c.953+270C>T - IntronicSNV - 3/20 1
15-99435159-T-C c.953+293T>C - IntronicSNV - 3/20 1
15-99435798-C-T c.953+932C>T - IntronicSNV - 3/20 1
15-99435815-A-G c.953+949A>G - IntronicSNV - 3/20 3
15-99435982-C-G c.953+1116C>G - IntronicSNV - 3/20 1
15-99435982-C-T c.953+1116C>T - IntronicSNV - 3/20 1
15-99436439-G-A c.953+1573G>A - IntronicSNV - 3/20 1
15-99436575-C-G c.953+1709C>G - IntronicSNV - 3/20 4
15-99439096-G-A c.954-890G>A - IntronicSNV - 3/20 1
15-99439340-T-A c.954-646T>A - IntronicSNV - 3/20 1
15-99439997-T-C c.965T>C p.Ile322Thr Missense 4/21 - 1
15-99440005-GA-AT c.973_974delinsAT p.Glu325Ile Missense 4/21 - 1
15-99440017-CC-GG c.985_986inv p.Pro329Gly Missense 4/21 - 1
15-99440107-A-T c.1075A>T p.Asn359Tyr Missense 4/21 - 2
15-99440112-G-C c.1080G>C p.Leu360Phe Missense 4/21 - 1
15-99440112-G-T c.1080G>T p.Leu360Phe Missense 4/21 - 1
15-99440128-C-T c.1096C>T p.Arg366Trp Missense 4/21 - 1
15-99440714-C-G c.1102+580C>G - IntronicSNV - 4/20 1
15-99440731-G-A c.1102+597G>A - IntronicSNV - 4/20 3
15-99440731-G-C c.1102+597G>C - IntronicSNV - 4/20 3
15-99441151-A-T c.1102+1017A>T - IntronicSNV - 4/20 1
15-99441382-C-G c.1102+1248C>G - IntronicSNV - 4/20 1
15-99441436-A-G c.1103-1270A>G - IntronicSNV - 4/20 3
15-99442595-A-G c.1103-111A>G - IntronicSNV - 4/20 4
15-99442613-C-T c.1103-93C>T - IntronicSNV - 4/20 1
15-99442714-G-A c.1111G>A p.Ala371Thr Missense 5/21 - 1
15-99442714-G-T c.1111G>T p.Ala371Ser Missense 5/21 - 1
15-99442715-C-T c.1112C>T p.Ala371Val Missense 5/21 - 1
15-99442764-C-A c.1161C>A p.Tyr387* Nonsense 5/21 - 2
15-99442764-C-G c.1161C>G p.Tyr387* Nonsense 5/21 - 2
15-99442765-G-A c.1162G>A p.Val388Met Missense 5/21 - 6
15-99442765-G-C c.1162G>C p.Val388Leu Missense 5/21 - 4
15-99442781-C-T c.1178C>T p.Ser393Phe Missense 5/21 - 1
15-99442797-C-T c.1194C>T p.Ser398Ser Synonymous 5/21 - 2
15-99442820-G-A c.1217G>A p.Arg406His Missense 5/21 - 4
15-99442853-A-G c.1247+3A>G - IntronicSNV - 5/20 2
15-99443139-G-A c.1247+289G>A - IntronicSNV - 5/20 3
15-99443161-A-G c.1247+311A>G - IntronicSNV - 5/20 8
15-99443292-G-A c.1247+442G>A - IntronicSNV - 5/20 6
15-99443292-G-T c.1247+442G>T - IntronicSNV - 5/20 6
15-99443331-C-T c.1247+481C>T - IntronicSNV - 5/20 2
15-99443847-C-T c.1247+997C>T - IntronicSNV - 5/20 1
15-99444094-G-A c.1247+1244G>A - IntronicSNV - 5/20 1
15-99444255-G-GG c.1247+1405dup - IntronicInsertion - 5/20 1
15-99444259-G-C c.1247+1409G>C - IntronicSNV - 5/20 2
15-99445427-G-A c.1247+2577G>A - IntronicSNV - 5/20 2
15-99445469-A-T c.1247+2619A>T - IntronicSNV - 5/20 3
15-99445824-T-G c.1247+2974T>G - IntronicSNV - 5/20 1
15-99446163-A-C c.1247+3313A>C - IntronicSNV - 5/20 1
15-99446163-A-G c.1247+3313A>G - IntronicSNV - 5/20 1
15-99446163-A-T c.1247+3313A>T - IntronicSNV - 5/20 1
15-99446632-G-C c.1247+3782G>C - IntronicSNV - 5/20 7
15-99446841-C-CC c.1247+3991dup - IntronicInsertion - 5/20 1
15-99446947-C-G c.1247+4097C>G - IntronicSNV - 5/20 1
15-99447209-C-T c.1247+4359C>T - IntronicSNV - 5/20 1
15-99448436-T-C c.1248-3478T>C - IntronicSNV - 5/20 1
15-99448463-C-T c.1248-3451C>T - IntronicSNV - 5/20 1
15-99448895-G-A c.1248-3019G>A - IntronicSNV - 5/20 1
15-99448908-A-G c.1248-3006A>G - IntronicSNV - 5/20 1
15-99449556-C-G c.1248-2358C>G - IntronicSNV - 5/20 1
15-99449556-C-T c.1248-2358C>T - IntronicSNV - 5/20 1
15-99449683-T-C c.1248-2231T>C - IntronicSNV - 5/20 2
15-99449701-T-A c.1248-2213T>A - IntronicSNV - 5/20 2
15-99451333-C-T c.1248-581C>T - IntronicSNV - 5/20 1
15-99451378-A-C c.1248-536A>C - IntronicSNV - 5/20 1
15-99451387-T-C c.1248-527T>C - IntronicSNV - 5/20 1
15-99451406-A-G c.1248-508A>G - IntronicSNV - 5/20 2
15-99451680-G-A c.1248-234G>A - IntronicSNV - 5/20 1
15-99451947-AC-A c.1281del p.Leu428Cysfs*12 Frameshift 6/21 - 1
15-99451953-G-A c.1287G>A p.Gln429Gln Synonymous 6/21 - 1
15-99451963-G-T c.1297G>T p.Asp433Tyr Missense 6/21 - 1
15-99451976-G-A c.1310G>A p.Arg437His Missense 6/21 - 8
15-99452002-A-G c.1336A>G p.Met446Val Missense 6/21 - 4
15-99452048-G-A c.1382G>A p.Arg461His Missense 6/21 - 1
15-99452048-G-T c.1382G>T p.Arg461Leu Missense 6/21 - 1
15-99452077-C-T c.1411C>T p.Arg471Cys Missense 6/21 - 2
15-99452078-GC-AA c.1412_1413delinsAA p.Arg471Gln Missense 6/21 - 1
15-99452085-C-T c.1419C>T p.Ser473Ser Synonymous 6/21 - 1
15-99452120-G-T c.1454G>T p.Arg485Ile Missense 6/21 - 1
15-99452143-C-G c.1462+15C>G - IntronicSNV - 6/20 1
15-99452169-T-C c.1462+41T>C - IntronicSNV - 6/20 1
15-99452467-T-C c.1462+339T>C - IntronicSNV - 6/20 1
15-99452480-C-T c.1462+352C>T - IntronicSNV - 6/20 1
15-99452488-T-TCTTTTT c.1462+360_1462+361insCTTTTT - IntronicInsertion - 6/20 1
15-99452942-C-T c.1462+814C>T - IntronicSNV - 6/20 1
15-99453047-T-C c.1462+919T>C - IntronicSNV - 6/20 3
15-99453047-T-G c.1462+919T>G - IntronicSNV - 6/20 3
15-99453068-A-G c.1462+940A>G - IntronicSNV - 6/20 1
15-99453271-A-G c.1462+1143A>G - IntronicSNV - 6/20 1
15-99453563-A-G c.1463-981A>G - IntronicSNV - 6/20 9
15-99454031-C-A c.1463-513C>A - IntronicSNV - 6/20 3
15-99454031-C-G c.1463-513C>G - IntronicSNV - 6/20 3
15-99454245-A-G c.1463-299A>G - IntronicSNV - 6/20 2
15-99454363-A-G c.1463-181A>G - IntronicSNV - 6/20 1
15-99454403-G-A c.1463-141G>A - IntronicSNV - 6/20 1
15-99454469-G-A c.1463-75G>A - IntronicSNV - 6/20 1
15-99454539-C-A c.1463-5C>A - IntronicSNV - 6/20 2
15-99454549-AG-TT c.1468_1469delinsTT p.Ser490Phe Missense 7/21 - 1
15-99454555-G-A c.1474G>A p.Val492Ile Missense 7/21 - 1
15-99454583-C-T c.1502C>T p.Ser501Leu Missense 7/21 - 1
15-99454609-CA-GC c.1528_1529delinsGC p.His510Ala Missense 7/21 - 3
15-99454612-C-T c.1531C>T p.Arg511Trp Missense 7/21 - 1
15-99454613-G-A c.1532G>A p.Arg511Gln Missense 7/21 - 5
15-99454631-A-T c.1550A>T p.Tyr517Phe Missense 7/21 - 1
15-99454646-G-C c.1565G>C p.Ser522Thr Missense 7/21 - 1
15-99454661-A-T c.1580A>T p.Tyr527Phe Missense 7/21 - 3
15-99454806-C-CC c.1589+136dup - IntronicInsertion - 7/20 1
15-99454962-C-T c.1589+292C>T - IntronicSNV - 7/20 8
15-99455270-C-A c.1589+600C>A - IntronicSNV - 7/20 5
15-99456170-A-G c.1590-103A>G - IntronicSNV - 7/20 1
15-99456253-T-C c.1590-20T>C - IntronicSNV - 7/20 10
15-99456344-TG-AC c.1661_1662delinsAC p.Val554Asp Missense 8/21 - 1
15-99456369-G-A c.1686G>A p.Val562Val Synonymous 8/21 - 1
15-99456375-C-T c.1692C>T p.Pro564Pro Synonymous 8/21 - 1
15-99456389-A-G c.1706A>G p.His569Arg Missense 8/21 - 1
15-99456401-CC-AA c.1718_1719delinsAA p.Pro573Gln Missense 8/21 - 1
15-99456401-C-T c.1718C>T p.Pro573Leu Missense 8/21 - 1
15-99456406-A-G c.1723A>G p.Thr575Ala Missense 8/21 - 2
15-99456467-G-A c.1784G>A p.Arg595His Missense 8/21 - 7
15-99456467-G-C c.1784G>C p.Arg595Pro Missense 8/21 - 2
15-99456470-G-T c.1787G>T p.Gly596Val Missense 8/21 - 2
15-99456476-A-G c.1793A>G p.Lys598Arg Missense 8/21 - 1
15-99456497-G-A c.1814G>A p.Arg605His Missense 8/21 - 2
15-99456506-C-A c.1823C>A p.Ala608Asp Missense 8/21 - 1
15-99456508-T-C c.1825T>C p.Ser609Pro Missense 8/21 - 1
15-99456553-G-A c.1828+42G>A - IntronicSNV - 8/20 4
15-99457752-G-A c.1828+1241G>A - IntronicSNV - 8/20 2
15-99457815-A-G c.1828+1304A>G - IntronicSNV - 8/20 3
15-99458307-T-C c.1829-886T>C - IntronicSNV - 8/20 1
15-99458307-T-G c.1829-886T>G - IntronicSNV - 8/20 1
15-99458327-T-C c.1829-866T>C - IntronicSNV - 8/20 4
15-99458481-A-G c.1829-712A>G - IntronicSNV - 8/20 6
15-99458718-G-C c.1829-475G>C - IntronicSNV - 8/20 2
15-99458718-G-T c.1829-475G>T - IntronicSNV - 8/20 2
15-99458902-C-T c.1829-291C>T - IntronicSNV - 8/20 3
15-99459204-C-T c.1840C>T p.Pro614Ser Missense 9/21 - 1
15-99459208-T-A c.1844T>A p.Leu615* Nonsense 9/21 - 2
15-99459208-T-C c.1844T>C p.Leu615Ser Missense 9/21 - 2
15-99459213-G-T c.1849G>T p.Val617Phe Missense 9/21 - 4
15-99459226-C-T c.1862C>T p.Ser621Leu Missense 9/21 - 1
15-99459249-G-A c.1885G>A p.Val629Met Missense 9/21 - 1
15-99459250-T-A c.1886T>A p.Val629Glu Missense 9/21 - 1
15-99459278-C-T c.1914C>T p.Asn638Asn Synonymous 9/21 - 3
15-99459295-A-T c.1931A>T p.Tyr644Phe Missense 9/21 - 1
15-99459310-A-T c.1946A>T p.Gln649Leu Missense 9/21 - 1
15-99459313-G-A c.1949G>A p.Arg650Gln Missense 9/21 - 1
15-99459314-G-C c.1950G>C p.Arg650Arg Synonymous 9/21 - 1
15-99459314-G-T c.1950G>T p.Arg650Arg Synonymous 9/21 - 1
15-99459320-T-G c.1956T>G p.Pro652Pro Synonymous 9/21 - 1
15-99459327-G-A c.1963G>A p.Gly655Ser Missense 9/21 - 1
15-99459327-G-C c.1963G>C p.Gly655Arg Missense 9/21 - 1
15-99459340-G-A c.1976G>A p.Arg659Gln Missense 9/21 - 3
15-99459340-G-C c.1976G>C p.Arg659Pro Missense 9/21 - 3
15-99459340-G-T c.1976G>T p.Arg659Leu Missense 9/21 - 3
15-99459342-CAC-TGG c.1978_1980delinsTGG p.His660Trp Missense 9/21 - 1
15-99459826-G-A c.1997-75G>A - IntronicSNV - 9/20 1
15-99459907-T-A c.2003T>A p.Ile668Asn Missense 10/21 - 1
15-99459929-C-T c.2025C>T p.Asp675Asp Synonymous 10/21 - 1
15-99459958-A-G c.2054A>G p.Glu685Gly Missense 10/21 - 1
15-99459988-A-C c.2084A>C p.Glu695Ala Missense 10/21 - 1
15-99460008-TG-AC c.2104_2105delinsAC p.Cys702Thr Missense 10/21 - 1
15-99460011-C-A c.2107C>A p.Pro703Thr Missense 10/21 - 1
15-99460021-A-C c.2117A>C p.Glu706Ala Missense 10/21 - 1
15-99460025-C-T c.2121C>T p.Ala707Ala Synonymous 10/21 - 1
15-99460035-G-C c.2131G>C p.Ala711Pro Missense 10/21 - 1
15-99460036-GCCGAGAAGGAGG-G c.2132_2143del p.Ala711_Glu714del InFrameDeletion 10/21 - 1
15-99460066-T-G c.2162T>G p.Val721Gly Missense 10/21 - 1
15-99460074-A-G c.2170A>G p.Asn724Asp Missense 10/21 - 1
15-99460090-C-T c.2186C>T p.Ser729Phe Missense 10/21 - 1
15-99460825-G-GG c.2201+720dup - IntronicInsertion - 10/20 1
15-99460862-A-G c.2201+757A>G - IntronicSNV - 10/20 2
15-99461096-C-T c.2201+991C>T - IntronicSNV - 10/20 2
15-99461934-C-CC c.2201+1829dup - IntronicInsertion - 10/20 1
15-99462640-C-T c.2201+2535C>T - IntronicSNV - 10/20 4
15-99463519-G-A c.2202-1858G>A - IntronicSNV - 10/20 1
15-99463519-G-C c.2202-1858G>C - IntronicSNV - 10/20 1
15-99463519-G-T c.2202-1858G>T - IntronicSNV - 10/20 1
15-99463530-C-A c.2202-1847C>A - IntronicSNV - 10/20 1
15-99463530-C-G c.2202-1847C>G - IntronicSNV - 10/20 1
15-99463735-G-A c.2202-1642G>A - IntronicSNV - 10/20 1
15-99463918-T-G c.2202-1459T>G - IntronicSNV - 10/20 1
15-99464103-A-G c.2202-1274A>G - IntronicSNV - 10/20 2
15-99464454-T-C c.2202-923T>C - IntronicSNV - 10/20 2
15-99464559-G-A c.2202-818G>A - IntronicSNV - 10/20 1
15-99464559-G-T c.2202-818G>T - IntronicSNV - 10/20 1
15-99464668-G-A c.2202-709G>A - IntronicSNV - 10/20 1
15-99464668-G-C c.2202-709G>C - IntronicSNV - 10/20 1
15-99464767-T-C c.2202-610T>C - IntronicSNV - 10/20 1
15-99465274-C-T c.2202-103C>T - IntronicSNV - 10/20 1
15-99465285-C-T c.2202-92C>T - IntronicSNV - 10/20 6
15-99465391-G-A c.2216G>A p.Arg739Gln Missense 11/21 - 2
15-99465419-C-G c.2244C>G p.Thr748Thr Synonymous 11/21 - 2
15-99465448-C-T c.2273C>T p.Thr758Met Missense 11/21 - 1
15-99465453-G-A c.2278G>A p.Ala760Thr Missense 11/21 - 2
15-99465453-G-T c.2278G>T p.Ala760Ser Missense 11/21 - 1
15-99465460-C-A c.2285C>A p.Thr762Asn Missense 11/21 - 1
15-99465460-C-T c.2285C>T p.Thr762Ile Missense 11/21 - 1
15-99465473-C-A c.2298C>A p.Thr766Thr Synonymous 11/21 - 2
15-99465473-C-G c.2298C>G p.Thr766Thr Synonymous 11/21 - 2
15-99465473-C-T c.2298C>T p.Thr766Thr Synonymous 11/21 - 13
15-99465574-G-A c.2399G>A p.Arg800His Missense 11/21 - 1
15-99465598-A-G c.2423A>G p.His808Arg Missense 11/21 - 1
15-99465644-A-G c.2469A>G p.Ala823Ala Synonymous 11/21 - 2
15-99465657-G-A c.2482G>A p.Ala828Thr Missense 11/21 - 2
15-99465657-G-T c.2482G>T p.Ala828Ser Missense 11/21 - 1
15-99465788-C-G c.2485+128C>G - IntronicSNV - 11/20 1
15-99465788-C-T c.2485+128C>T - IntronicSNV - 11/20 1
15-99465830-G-GG c.2485+170dup - IntronicInsertion - 11/20 1
15-99465886-C-T c.2485+226C>T - IntronicSNV - 11/20 1
15-99466085-C-T c.2485+425C>T - IntronicSNV - 11/20 3
15-99466147-T-C c.2485+487T>C - IntronicSNV - 11/20 1
15-99466198-G-A c.2485+538G>A - IntronicSNV - 11/20 4
15-99466969-C-A c.2486-136C>A - IntronicSNV - 11/20 1
15-99466969-C-G c.2486-136C>G - IntronicSNV - 11/20 1
15-99466969-C-T c.2486-136C>T - IntronicSNV - 11/20 1
15-99467143-C-T c.2524C>T p.Pro842Ser Missense 12/21 - 1
15-99467145-A-G c.2526A>G p.Pro842Pro Synonymous 12/21 - 1
15-99467158-TC-CT c.2539_2540delinsCT p.Ser847Leu Missense 12/21 - 1
15-99467177-C-T c.2558C>T p.Pro853Leu Missense 12/21 - 1
15-99467189-A-C c.2570A>C p.Asn857Thr Missense 12/21 - 3
15-99467189-A-G c.2570A>G p.Asn857Ser Missense 12/21 - 6
15-99467191-C-T c.2572C>T p.Pro858Ser Missense 12/21 - 1
15-99467207-T-A c.2588T>A p.Leu863Gln Missense 12/21 - 1
15-99467213-A-G c.2594A>G p.Tyr865Cys Missense 12/21 - 2
15-99467228-G-C c.2609G>C p.Gly870Ala Missense 12/21 - 2
15-99467760-C-T c.2629C>T p.Arg877* Nonsense 13/21 - 1
15-99467762-A-G c.2631A>G p.Arg877Arg Synonymous 13/21 - 1
15-99467770-T-C c.2639T>C p.Val880Ala Missense 13/21 - 2
15-99467831-C-G c.2700C>G p.Asn900Lys Missense 13/21 - 3
15-99467831-C-T c.2700C>T p.Asn900Asn Synonymous 13/21 - 3
15-99467857-C-G c.2726C>G p.Ser909Cys Missense 13/21 - 1
15-99467868-AAT-CAA c.2737_2739delinsCAA p.Asn913Gln Missense 13/21 - 1
15-99467880-A-G c.2749A>G p.Thr917Ala Missense 13/21 - 1
15-99467901-GT-CG c.2770_2771delinsCG p.Val924Arg Missense 13/21 - 2
15-99467934-A-C c.2782+21A>C - IntronicSNV - 13/20 2
15-99467934-A-G c.2782+21A>G - IntronicSNV - 13/20 2
15-99467934-A-T c.2782+21A>T - IntronicSNV - 13/20 2
15-99468256-T-C c.2782+343T>C - IntronicSNV - 13/20 1
15-99470321-G-C c.2782+2408G>C - IntronicSNV - 13/20 2
15-99470952-T-C c.2783-1835T>C - IntronicSNV - 13/20 1
15-99471429-T-G c.2783-1358T>G - IntronicSNV - 13/20 1
15-99471507-T-G c.2783-1280T>G - IntronicSNV - 13/20 2
15-99471866-G-A c.2783-921G>A - IntronicSNV - 13/20 12
15-99472734-T-C c.2783-53T>C - IntronicSNV - 13/20 2
15-99472801-TT-CA c.2797_2798delinsCA p.Phe933His Missense 14/21 - 1
15-99472860-G-A c.2856G>A p.Val952Val Synonymous 14/21 - 1
15-99472865-T-C c.2861T>C p.Met954Thr Missense 14/21 - 1
15-99472904-A-G c.2885+15A>G - IntronicSNV - 14/20 1
15-99473472-G-A c.2894G>A p.Ser965Asn Missense 15/21 - 4
15-99473472-G-T c.2894G>T p.Ser965Ile Missense 15/21 - 3
15-99473477-C-A c.2899C>A p.Leu967Met Missense 15/21 - 1
15-99473606-A-G c.2956+72A>G - IntronicSNV - 15/20 2
15-99474498-G-A c.2956+964G>A - IntronicSNV - 15/20 1
15-99475275-T-C c.2956+1741T>C - IntronicSNV - 15/20 2
15-99475275-T-G c.2956+1741T>G - IntronicSNV - 15/20 2
15-99475484-A-G c.2956+1950A>G - IntronicSNV - 15/20 3
15-99475526-G-A c.2956+1992G>A - IntronicSNV - 15/20 2
15-99475526-G-T c.2956+1992G>T - IntronicSNV - 15/20 2
15-99477045-G-A c.2957-1008G>A - IntronicSNV - 15/20 2
15-99477045-G-C c.2957-1008G>C - IntronicSNV - 15/20 2
15-99477058-G-A c.2957-995G>A - IntronicSNV - 15/20 1
15-99477911-T-A c.2957-142T>A - IntronicSNV - 15/20 1
15-99477911-T-G c.2957-142T>G - IntronicSNV - 15/20 1
15-99477926-G-A c.2957-127G>A - IntronicSNV - 15/20 1
15-99478057-C-T c.2961C>T p.Tyr987Tyr Synonymous 16/21 - 2
15-99478089-A-G c.2993A>G p.Lys998Arg Missense 16/21 - 1
15-99478100-AG-GC c.3004_3005delinsGC p.Ser1002Ala Missense 16/21 - 1
15-99478153-G-C c.3057G>C p.Lys1019Asn Missense 16/21 - 1
15-99478153-G-T c.3057G>T p.Lys1019Asn Missense 16/21 - 1
15-99478157-G-A c.3061G>A p.Val1021Met Missense 16/21 - 1
15-99478193-AA-GC c.3097_3098delinsGC p.Lys1033Ala Missense 16/21 - 1
15-99478210-C-T c.3114C>T p.Ala1038Ala Synonymous 16/21 - 1
15-99478225-G-A c.3129G>A p.Glu1043Glu Synonymous 16/21 - 55
15-99478232-G-A c.3136G>A p.Glu1046Lys Missense 16/21 - 1
15-99478244-G-A c.3148G>A p.Glu1050Lys Missense 16/21 - 3
15-99478451-C-G c.3187-94C>G - IntronicSNV - 16/20 1
15-99478493-T-A c.3187-52T>A - IntronicSNV - 16/20 1
15-99478493-T-C c.3187-52T>C - IntronicSNV - 16/20 1
15-99478540-C-T c.3187-5C>T - IntronicSNV - 16/20 2
15-99478592-TCAT-T c.3234_3236del p.Ile1078del InFrameDeletion 17/21 - 1
15-99478713-T-C c.3297+58T>C - IntronicSNV - 17/20 6
15-99478713-T-G c.3297+58T>G - IntronicSNV - 17/20 5
15-99479262-A-C c.3297+607A>C - IntronicSNV - 17/20 1
15-99479271-C-T c.3297+616C>T - IntronicSNV - 17/20 1
15-99479946-G-A c.3297+1291G>A - IntronicSNV - 17/20 2
15-99479946-G-T c.3297+1291G>T - IntronicSNV - 17/20 2
15-99480263-T-C c.3297+1608T>C - IntronicSNV - 17/20 2
15-99480271-C-T c.3297+1616C>T - IntronicSNV - 17/20 1
15-99480407-G-A c.3297+1752G>A - IntronicSNV - 17/20 1
15-99480671-A-G c.3298-1759A>G - IntronicSNV - 17/20 4
15-99480878-T-TA c.3298-1552_3298-1551insA - IntronicInsertion - 17/20 1
15-99481832-C-T c.3298-598C>T - IntronicSNV - 17/20 8
15-99481841-G-C c.3298-589G>C - IntronicSNV - 17/20 1
15-99481953-C-T c.3298-477C>T - IntronicSNV - 17/20 1
15-99482433-A-T c.3301A>T p.Asn1101Tyr Missense 18/21 - 1
15-99482481-G-A c.3349G>A p.Gly1117Arg Missense 18/21 - 1
15-99482481-G-C c.3349G>C p.Gly1117Arg Missense 18/21 - 1
15-99482515-C-A c.3383C>A p.Ala1128Asp Missense 18/21 - 1
15-99482565-G-A c.3433G>A p.Glu1145Lys Missense 18/21 - 1
15-99482568-G-A c.3436G>A p.Asp1146Asn Missense 18/21 - 1
15-99482571-T-C c.3439T>C p.Phe1147Leu Missense 18/21 - 1
15-99482573-C-A c.3441C>A p.Phe1147Leu Missense 18/21 - 1
15-99482573-C-G c.3441C>G p.Phe1147Leu Missense 18/21 - 1
15-99482584-T-C c.3452T>C p.Ile1151Thr Missense 18/21 - 1
15-99482585-C-G c.3453C>G p.Ile1151Met Missense 18/21 - 1
15-99482585-C-T c.3453C>T p.Ile1151Ile Synonymous 18/21 - 1
15-99482875-G-C c.3457+286G>C - IntronicSNV - 18/20 1
15-99482928-A-G c.3457+339A>G - IntronicSNV - 18/20 7
15-99483392-T-C c.3457+803T>C - IntronicSNV - 18/20 7
15-99484378-C-T c.3458-1774C>T - IntronicSNV - 18/20 1
15-99484539-G-A c.3458-1613G>A - IntronicSNV - 18/20 1
15-99484720-A-G c.3458-1432A>G - IntronicSNV - 18/20 1
15-99484953-T-C c.3458-1199T>C - IntronicSNV - 18/20 3
15-99485516-T-C c.3458-636T>C - IntronicSNV - 18/20 1
15-99485665-T-A c.3458-487T>A - IntronicSNV - 18/20 1
15-99485702-A-G c.3458-450A>G - IntronicSNV - 18/20 2
15-99485861-G-A c.3458-291G>A - IntronicSNV - 18/20 1
15-99485861-G-C c.3458-291G>C - IntronicSNV - 18/20 1
15-99485931-T-A c.3458-221T>A - IntronicSNV - 18/20 2
15-99486158-G-C c.3464G>C p.Gly1155Ala Missense 19/21 - 1
15-99486165-G-A c.3471G>A p.Thr1157Thr Synonymous 19/21 - 2
15-99486165-G-T c.3471G>T p.Thr1157Thr Synonymous 19/21 - 2
15-99486179-A-C c.3485A>C p.Glu1162Ala Missense 19/21 - 1
15-99486193-CG-GC c.3499_3500delinsGC p.Arg1167Ala Missense 19/21 - 1
15-99486233-C-T c.3539C>T p.Ser1180Phe Missense 19/21 - 1
15-99486276-C-T c.3582C>T p.Asp1194Asp Synonymous 19/21 - 1
15-99486429-A-G c.3587+148A>G - IntronicSNV - 19/20 1
15-99487095-A-G c.3587+814A>G - IntronicSNV - 19/20 5
15-99487095-A-T c.3587+814A>T - IntronicSNV - 19/20 5
15-99487794-A-G c.3587+1513A>G - IntronicSNV - 19/20 1
15-99487888-G-T c.3587+1607G>T - IntronicSNV - 19/20 5
15-99488081-G-A c.3587+1800G>A - IntronicSNV - 19/20 5
15-99488081-G-C c.3587+1800G>C - IntronicSNV - 19/20 5
15-99488728-C-A c.3587+2447C>A - IntronicSNV - 19/20 3
15-99489136-C-A c.3588-2667C>A - IntronicSNV - 19/20 1
15-99489265-T-C c.3588-2538T>C - IntronicSNV - 19/20 1
15-99489265-T-G c.3588-2538T>G - IntronicSNV - 19/20 1
15-99489822-G-A c.3588-1981G>A - IntronicSNV - 19/20 1
15-99489916-G-A c.3588-1887G>A - IntronicSNV - 19/20 3
15-99489935-A-G c.3588-1868A>G - IntronicSNV - 19/20 3
15-99490039-G-A c.3588-1764G>A - IntronicSNV - 19/20 1
15-99490206-C-G c.3588-1597C>G - IntronicSNV - 19/20 1
15-99490206-C-T c.3588-1597C>T - IntronicSNV - 19/20 1
15-99490596-A-T c.3588-1207A>T - IntronicSNV - 19/20 2
15-99490912-A-G c.3588-891A>G - IntronicSNV - 19/20 1
15-99491540-G-A c.3588-263G>A - IntronicSNV - 19/20 5
15-99491683-C-T c.3588-120C>T - IntronicSNV - 19/20 1
15-99491810-G-A c.3595G>A p.Gly1199Arg Missense 20/21 - 2
15-99491816-G-A c.3601G>A p.Val1201Ile Missense 20/21 - 1
15-99491831-G-A c.3616G>A p.Ala1206Thr Missense 20/21 - 1
15-99491831-G-T c.3616G>T p.Ala1206Ser Missense 20/21 - 1
15-99491855-C-T c.3640C>T p.Gln1214* Nonsense 20/21 - 1
15-99491859-G-C c.3644G>C p.Gly1215Ala Missense 20/21 - 1
15-99491869-C-T c.3654C>T p.Asn1218Asn Synonymous 20/21 - 1
15-99491937-T-C c.3722T>C p.Leu1241Pro Missense 20/21 - 1
15-99492045-G-A c.3722+108G>A - IntronicSNV - 20/20 5
15-99492061-G-A c.3722+124G>A - IntronicSNV - 20/20 3
15-99492061-G-T c.3722+124G>T - IntronicSNV - 20/20 3
15-99492313-C-G c.3722+376C>G - IntronicSNV - 20/20 1
15-99492313-C-T c.3722+376C>T - IntronicSNV - 20/20 1
15-99492542-G-A c.3722+605G>A - IntronicSNV - 20/20 1
15-99493176-C-A c.3722+1239C>A - IntronicSNV - 20/20 5
15-99493176-C-T c.3722+1239C>T - IntronicSNV - 20/20 5
15-99494842-C-T c.3722+2905C>T - IntronicSNV - 20/20 1
15-99495208-C-T c.3722+3271C>T - IntronicSNV - 20/20 2
15-99495351-A-G c.3722+3414A>G - IntronicSNV - 20/20 1
15-99496248-C-T c.3723-4042C>T - IntronicSNV - 20/20 6
15-99496340-G-T c.3723-3950G>T - IntronicSNV - 20/20 2
15-99496387-A-G c.3723-3903A>G - IntronicSNV - 20/20 2
15-99496859-A-G c.3723-3431A>G - IntronicSNV - 20/20 6
15-99498085-C-T c.3723-2205C>T - IntronicSNV - 20/20 6
15-99498412-G-C c.3723-1878G>C - IntronicSNV - 20/20 4
15-99498433-C-A c.3723-1857C>A - IntronicSNV - 20/20 4
15-99498433-C-T c.3723-1857C>T - IntronicSNV - 20/20 4
15-99498879-T-A c.3723-1411T>A - IntronicSNV - 20/20 1
15-99498879-T-C c.3723-1411T>C - IntronicSNV - 20/20 1
15-99499434-T-C c.3723-856T>C - IntronicSNV - 20/20 6
15-99499493-G-A c.3723-797G>A - IntronicSNV - 20/20 5
15-99499493-G-C c.3723-797G>C - IntronicSNV - 20/20 5
15-99499493-G-T c.3723-797G>T - IntronicSNV - 20/20 5
15-99499526-G-A c.3723-764G>A - IntronicSNV - 20/20 1
15-99499605-C-T c.3723-685C>T - IntronicSNV - 20/20 1
15-99499702-C-T c.3723-588C>T - IntronicSNV - 20/20 1
15-99499814-G-GG c.3723-476dup - IntronicInsertion - 20/20 1
15-99499930-C-T c.3723-360C>T - IntronicSNV - 20/20 4
15-99500016-T-C c.3723-274T>C - IntronicSNV - 20/20 1
15-99500064-C-G c.3723-226C>G - IntronicSNV - 20/20 4
15-99500064-C-T c.3723-226C>T - IntronicSNV - 20/20 4
15-99500074-G-A c.3723-216G>A - IntronicSNV - 20/20 3
15-99500173-T-C c.3723-117T>C - IntronicSNV - 20/20 1
15-99500204-G-A c.3723-86G>A - IntronicSNV - 20/20 1
15-99500251-C-G c.3723-39C>G - IntronicSNV - 20/20 1
15-99500251-C-T c.3723-39C>T - IntronicSNV - 20/20 1
15-99500256-G-A c.3723-34G>A - IntronicSNV - 20/20 4
15-99500286-G-A c.3723-4G>A - IntronicSNV - 20/20 1
15-99500303-C-G c.3736C>G p.Arg1246Gly Missense 21/21 - 2
15-99500303-C-T c.3736C>T p.Arg1246Cys Missense 21/21 - 3
15-99500304-G-A c.3737G>A p.Arg1246His Missense 21/21 - 3
15-99500310-G-A c.3743G>A p.Cys1248Tyr Missense 21/21 - 1
15-99500313-G-A c.3746G>A p.Trp1249* Nonsense 21/21 - 1
15-99500314-G-A c.3747G>A p.Trp1249* Nonsense 21/21 - 1
15-99500315-C-T c.3748C>T p.Gln1250* Nonsense 21/21 - 1
15-99500332-G-A c.3765G>A p.Met1255Ile Missense 21/21 - 3
15-99500332-G-C c.3765G>C p.Met1255Ile Missense 21/21 - 3
15-99500332-G-T c.3765G>T p.Met1255Ile Missense 21/21 - 3
15-99500335-G-C c.3768G>C p.Arg1256Ser Missense 21/21 - 2
15-99500335-G-T c.3768G>T p.Arg1256Ser Missense 21/21 - 2
15-99500336-C-T c.3769C>T p.Pro1257Ser Missense 21/21 - 1
15-99500375-AT-GC c.3808_3809delinsGC p.Met1270Ala Missense 21/21 - 1
15-99500379-A-G c.3812A>G p.Glu1271Gly Missense 21/21 - 1
15-99500391-G-A c.3824G>A p.Arg1275Gln Missense 21/21 - 1
15-99500397-T-A c.3830T>A p.Val1277Asp Missense 21/21 - 1
15-99500399-TC-GA c.3832_3833inv p.Ser1278Asp Missense 21/21 - 1
15-99500402-TT-GA c.3835_3836delinsGA p.Phe1279Asp Missense 21/21 - 1
15-99500405-T-G c.3838T>G p.Tyr1280Asp Missense 21/21 - 1
15-99500408-T-G c.3841T>G p.Tyr1281Asp Missense 21/21 - 1
15-99500411-AGC-TGA c.3844_3846delinsTGA p.Ser1282* Nonsense 21/21 - 1
15-99500411-AG-GA c.3844_3845delinsGA p.Ser1282Asp Missense 21/21 - 1
15-99500412-G-T c.3845G>T p.Ser1282Ile Missense 21/21 - 1
15-99500414-G-A c.3847G>A p.Glu1283Lys Missense 21/21 - 2
15-99500436-C-T c.3869C>T p.Pro1290Leu Missense 21/21 - 1
15-99500464-C-G c.3897C>G p.Asn1299Lys Missense 21/21 - 1
15-99500474-G-A c.3907G>A p.Val1303Ile Missense 21/21 - 1
15-99500474-G-C c.3907G>C p.Val1303Leu Missense 21/21 - 1
15-99500485-C-T c.3918C>T p.Asp1306Asp Synonymous 21/21 - 1
15-99500492-GCC-TAA c.3925_3927delinsTAA p.Ala1309* Nonsense 21/21 - 1
15-99500507-CTG-CCTAGCAGCCTT c.3941_3942delinsCTAGCAGCCTT p.Ser1313_Leu1314insProSerSer MultiAAMissense 21/21 - 1
15-99500521-C-T c.3954C>T p.Asp1318Asp Synonymous 21/21 - 1
15-99500561-G-A c.3994G>A p.Gly1332Arg Missense 21/21 - 1
15-99500561-G-C c.3994G>C p.Gly1332Arg Missense 21/21 - 1
15-99500576-C-T c.4009C>T p.Arg1337Cys Missense 21/21 - 3
15-99500579-G-A c.4012G>A p.Ala1338Thr Missense 21/21 - 1
15-99500579-G-C c.4012G>C p.Ala1338Pro Missense 21/21 - 1
15-99500588-G-A c.4021G>A p.Asp1341Asn Missense 21/21 - 2
15-99500590-C-T c.4023C>T p.Asp1341Asp Synonymous 21/21 - 1
15-99500605-C-A c.4038C>A p.Tyr1346* Nonsense 21/21 - 6
15-99500605-C-T c.4038C>T p.Tyr1346Tyr Synonymous 21/21 - 7
15-99500607-C-T c.4040C>T p.Ala1347Val Missense 21/21 - 6
15-99500621-G-C c.4054G>C p.Gly1352Arg Missense 21/21 - 1
15-99500625-G-A c.4058G>A p.Arg1353His Missense 21/21 - 4
15-99500632-C-T c.4065C>T p.Asn1355Asn Synonymous 21/21 - 1
15-99500633-G-A c.4066G>A p.Glu1356Lys Missense 21/21 - 1
15-99500649-T-G c.4082T>G p.Leu1361Arg Missense 21/21 - 1
15-99500699-G-A c.*28G>A - 3-UTRSNV 21/21 - 1
15-99500699-G-T c.*28G>T - 3-UTRSNV 21/21 - 1
15-99500727-G-A c.*56G>A - 3-UTRSNV 21/21 - 1
15-99500727-G-C c.*56G>C - 3-UTRSNV 21/21 - 1
15-99500727-G-T c.*56G>T - 3-UTRSNV 21/21 - 1
15-99501129-G-A c.*458G>A - 3-UTRSNV 21/21 - 1
15-99501402-C-G c.*731C>G - 3-UTRSNV 21/21 - 1
15-99501545-C-A c.*874C>A - 3-UTRSNV 21/21 - 1
15-99501545-C-T c.*874C>T - 3-UTRSNV 21/21 - 1
15-99501581-C-G c.*910C>G - 3-UTRSNV 21/21 - 6
15-99501581-C-T c.*910C>T - 3-UTRSNV 21/21 - 6
15-99502454-C-G c.*1783C>G - 3-UTRSNV 21/21 - 1
15-99502454-C-T c.*1783C>T - 3-UTRSNV 21/21 - 1
15-99502527-C-T c.*1856C>T - 3-UTRSNV 21/21 - 5
15-99502723-T-G c.*2052T>G - 3-UTRSNV 21/21 - 1
15-99503252-T-TA c.*2581_*2582insA - 3-UTRInsertion 21/21 - 1
15-99503745-G-A c.*3074G>A - 3-UTRSNV 21/21 - 1
15-99503800-G-A c.*3129G>A - 3-UTRSNV 21/21 - 19
15-99503800-G-T c.*3129G>T - 3-UTRSNV 21/21 - 19
15-99503836-T-C c.*3165T>C - 3-UTRSNV 21/21 - 4
15-99504004-G-A c.*3333G>A - 3-UTRSNV 21/21 - 1
15-99504129-G-A c.*3458G>A - 3-UTRSNV 21/21 - 2
15-99504437-C-T c.*3766C>T - 3-UTRSNV 21/21 - 7
15-99504671-C-T c.*4000C>T - 3-UTRSNV 21/21 - 7
15-99504843-C-T c.*4172C>T - 3-UTRSNV 21/21 - 1
15-99505062-C-A c.*4391C>A - 3-UTRSNV 21/21 - 5
15-99505062-C-T c.*4391C>T - 3-UTRSNV 21/21 - 5
15-99505129-C-G c.*4458C>G - 3-UTRSNV 21/21 - 3
15-99505129-C-T c.*4458C>T - 3-UTRSNV 21/21 - 3
15-99505182-C-T c.*4511C>T - 3-UTRSNV 21/21 - 1
15-99505316-C-T c.*4645C>T - 3-UTRSNV 21/21 - 2
15-99505423-G-T c.*4752G>T - 3-UTRSNV 21/21 - 5
15-99505485-C-T c.*4814C>T - 3-UTRSNV 21/21 - 1
15-99505828-A-G c.*5157A>G - 3-UTRSNV 21/21 - 7
15-99505980-C-G c.*5309C>G - 3-UTRSNV 21/21 - 1
15-99505980-C-T c.*5309C>T - 3-UTRSNV 21/21 - 1
15-99506099-A-G c.*5428A>G - 3-UTRSNV 21/21 - 1
15-99506102-G-A c.*5431G>A - 3-UTRSNV 21/21 - 1
15-99506107-C-T c.*5436C>T - 3-UTRSNV 21/21 - 1
15-99506740-G-A c.*6069G>A - 3-UTRSNV 21/21 - 1
15-99506942-C-A c.*6271C>A - 3-UTRSNV 21/21 - 1
15-99506942-C-T c.*6271C>T - 3-UTRSNV 21/21 - 1
15-99507441-A-T c.*6770A>T - 3-UTRSNV 21/21 - 1