HR HR lysine demethylase and nuclear receptor corepressor

Canonical transcript: NM_005144

803 unique variant annotations were identified in 897 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
8-21973257-G-A c.3526C>T p.Gln1176* Nonsense 19/19 - 1
8-21973817-G-A c.3503C>T p.Ala1168Val Missense 18/19 - 1
8-21973847-CT-GC c.3472_3473delinsGC p.Ser1158Ala Missense 18/19 - 1
8-21973857-G-C c.3463C>G p.Gln1155Glu Missense 18/19 - 1
8-21973861-G-C c.3459C>G p.Cys1153Trp Missense 18/19 - 1
8-21973885-G-A c.3435C>T p.Thr1145Thr Synonymous 18/19 - 2
8-21973913-A-T c.3407T>A p.Val1136Asp Missense 18/19 - 4
8-21973930-C-CTGTC c.3390_3391insACAG p.Val1131Thrfs*15 Frameshift 18/19 - 1
8-21973930-C-CTCTG c.3389_3390insCAGA p.Val1131Argfs*15 Frameshift 18/19 - 1
8-21974392-T-G c.3374A>C p.His1125Pro Missense 17/19 - 1
8-21974396-G-GG c.3373dup p.His1125Profs*20 Frameshift 17/19 - 1
8-21974431-G-A c.3335C>T p.Ala1112Val Missense 17/19 - 1
8-21974442-G-C c.3324C>G p.Thr1108Thr Synonymous 17/19 - 1
8-21974450-A-C c.3316T>G p.Cys1106Gly Missense 17/19 - 1
8-21974464-T-TT c.3302dup p.Trp1102Valfs*43 Frameshift 17/19 - 1
8-21974464-T-G c.3302A>C p.Glu1101Ala Missense 17/19 - 1
8-21974467-T-G c.3299A>C p.Glu1100Ala Missense 17/19 - 1
8-21974479-CG-GC c.3286_3287delinsGC p.Arg1096Ala Missense 17/19 - 1
8-21974533-C-T c.3233G>A p.Gly1078Asp Missense 17/19 - 1
8-21974533-C-G c.3233G>C p.Gly1078Ala Missense 17/19 - 1
8-21974551-A-G c.3215T>C p.Val1072Ala Missense 17/19 - 1
8-21974991-T-C c.3214-439A>G - IntronicSNV - 16/18 1
8-21976479-C-T c.3197G>A p.Arg1066His Missense 16/19 - 2
8-21976503-C-T c.3173G>A p.Arg1058Gln Missense 16/19 - 1
8-21976510-C-T c.3166G>A p.Val1056Met Missense 16/19 - 4
8-21976532-G-GG c.3145dup p.Gln1049Profs*96 Frameshift 16/19 - 1
8-21976703-AG-GC c.3070_3071delinsGC p.Leu1024Ala Missense 15/19 - 1
8-21976710-T-C c.3064A>G p.Thr1022Ala Missense 15/19 - 3
8-21976740-C-T c.3034G>A p.Asp1012Asn Missense 15/19 - 5
8-21976748-T-C c.3026A>G p.Glu1009Gly Missense 15/19 - 1
8-21976755-A-C c.3019T>G p.Cys1007Gly Missense 15/19 - 1
8-21976781-C-T c.2993G>A p.Arg998Gln Missense 15/19 - 1
8-21977281-G-A c.2969C>T p.Ala990Val Missense 14/19 - 1
8-21977281-GC-AA c.2968_2969delinsTT p.Ala990Leu Missense 14/19 - 1
8-21977305-C-T c.2945G>A p.Arg982His Missense 14/19 - 1
8-21977341-T-C c.2909A>G p.Asn970Ser Missense 14/19 - 3
8-21977362-C-G c.2888G>C p.Cys963Ser Missense 14/19 - 1
8-21977363-A-T c.2887T>A p.Cys963Ser Missense 14/19 - 1
8-21977374-AG-TG c.2876delinsA p.Leu959His Missense 14/19 - 1
8-21977644-C-T c.2819G>A p.Arg940Gln Missense 13/19 - 1
8-21977645-G-A c.2818C>T p.Arg940* Nonsense 13/19 - 1
8-21977664-G-C c.2799C>G p.Gly933Gly Synonymous 13/19 - 1
8-21977665-C-G c.2798G>C p.Gly933Ala Missense 13/19 - 2
8-21977669-C-T c.2794G>A p.Glu932Lys Missense 13/19 - 1
8-21977890-CT-TT c.2741delinsA p.Ser914Asn Missense 12/19 - 2
8-21977893-C-T c.2738G>A p.Gly913Asp Missense 12/19 - 1
8-21977894-C-A c.2737G>T p.Gly913Cys Missense 12/19 - 1
8-21977900-T-G c.2731A>C p.Ser911Arg Missense 12/19 - 1
8-21977898-G-T c.2733C>A p.Ser911Arg Missense 12/19 - 1
8-21977898-G-C c.2733C>G p.Ser911Arg Missense 12/19 - 1
8-21977899-CT-GC c.2731_2732delinsGC p.Ser911Ala Missense 12/19 - 1
8-21977936-G-A c.2695C>T p.Gln899* Nonsense 12/19 - 1
8-21977954-C-A c.2677G>T p.Ala893Ser Missense 12/19 - 12
8-21977954-C-T c.2677G>A p.Ala893Thr Missense 12/19 - 1
8-21977977-A-C c.2654T>G p.Leu885Arg Missense 12/19 - 1
8-21978007-TGACA-T c.2621_2624del p.Val874Glufs*27 Frameshift 12/19 - 1
8-21978229-C-G c.2610G>C p.Gln870His Missense 11/19 - 1
8-21978231-G-A c.2608C>T p.Gln870* Nonsense 11/19 - 1
8-21978246-G-A c.2593C>T p.His865Tyr Missense 11/19 - 1
8-21978261-G-T c.2578C>A p.His860Asn Missense 11/19 - 1
8-21978268-ACG-TGA c.2569_2571delinsTCA p.Arg857Ser Nonsense 11/19 - 1
8-21978291-C-T c.2548G>A p.Glu850Lys Missense 11/19 - 1
8-21978304-C-G c.2535G>C p.Leu845Phe Missense 11/19 - 2
8-21978304-C-A c.2535G>T p.Leu845Phe Missense 11/19 - 2
8-21978355-CAG-TTT c.2482_2484delinsAAA p.Leu828Lys Missense 11/19 - 1
8-21978360-C-G c.2479G>C p.Gly827Arg Missense 11/19 - 1
8-21978405-T-A c.2434A>T p.Lys812* Nonsense 11/19 - 1
8-21978413-AT-GC c.2425_2426delinsGC p.Ile809Ala Missense 11/19 - 1
8-21978434-G-A c.2405C>T p.Ala802Val Missense 11/19 - 1
8-21978453-T-C c.2386A>G p.Ile796Val Missense 11/19 - 2
8-21978454-GTT-TAA c.2383_2385delinsTTA p.Asn795Leu Nonsense 11/19 - 1
8-21978465-G-A c.2374C>T p.Arg792Cys Missense 11/19 - 1
8-21978469-ATC-ATG c.2368delinsC p.Asp790His Missense 11/19 - 1
8-21978470-TC-CG c.2368_2369delinsCG p.Asp790Arg Missense 11/19 - 1
8-21978589-GCCGGAGTGACG-G c.2347_2357del p.Val783Profs*4 Frameshift 10/19 - 1
8-21978590-CCGGAG-C c.2351_2355del p.Thr784Serfs*5 Frameshift 10/19 - 1
8-21978594-G-A c.2351C>T p.Thr784Ile Missense 10/19 - 1
8-21978600-G-A c.2345C>T p.Pro782Leu Missense 10/19 - 1
8-21978609-GC-TG c.2335_2336delinsCA p.Ala779His Missense 10/19 - 1
8-21978620-TC-AT c.2324_2325delinsAT p.Arg775His Missense 10/19 - 1
8-21978622-G-GACTCCCCGTTTGCAGACTCACC c.2322_2323insGGTGAGTCTGCAAACGGGGAGT p.Arg775Glyfs*23 Frameshift 10/19 - 1
8-21978654-G-A c.2291C>T p.Ser764Phe Missense 10/19 - 1
8-21978702-G-A c.2243C>T p.Ala748Val Missense 10/19 - 1
8-21978705-C-A c.2240G>T p.Arg747Leu Missense 10/19 - 1
8-21978705-CG-GC c.2239_2240delinsGC p.Arg747Ala Missense 10/19 - 1
8-21978718-G-A c.2227C>T p.Pro743Ser Missense 10/19 - 1
8-21978729-GA-AA c.2216delinsT p.Ser739Phe Missense 10/19 - 1
8-21978730-A-C c.2215T>G p.Ser739Ala Missense 10/19 - 1
8-21978739-T-TA c.2205_2206insT p.Thr736Tyrfs*6 SpliceAcceptorInsertion 10/19 - 1
8-21978739-GTCTCTGTCAGGGAGGAAGATGGTGGGGGGCTTCGCGTTTGGTCCCTCCTCTTCCCCTCG-G c.2204-55_2207del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/19 9/18 1
8-21978741-T-G c.2204A>C p.Glu735Ala Missense 10/19 - 1
8-21979147-T-C c.2182A>G p.Arg728Gly Missense 9/19 - 2
8-21979155-TC-CG c.2173_2174delinsCG p.Asp725Arg Missense 9/19 - 1
8-21979157-G-GG c.2172dup p.Asp725Argfs*17 Frameshift 9/19 - 1
8-21979164-CA-AC c.2164_2165delinsGT p.Cys722Val Missense 9/19 - 2
8-21979166-GG-AA c.2162_2163delinsTT p.Ser721Phe Nonsense 9/19 - 1
8-21979183-G-A c.2146C>T p.Pro716Ser Missense 9/19 - 1
8-21980007-TG-GC c.2119_2120delinsGC p.Gln707Ala Missense 8/19 - 1
8-21980033-TAC-TTT c.2092_2093delinsAA p.Val698Lys Missense 8/19 - 1
8-21980065-C-A c.2062G>T p.Gly688Trp Missense 8/19 - 1
8-21980076-A-G c.2051T>C p.Phe684Ser Missense 8/19 - 1
8-21980090-C-T c.2037G>A p.Gln679Gln Synonymous 8/19 - 1
8-21980100-G-C c.2027C>G p.Ala676Gly Missense 8/19 - 1
8-21980104-T-C c.2023A>G p.Thr675Ala Missense 8/19 - 2
8-21980106-CT-GC c.2020_2021delinsGC p.Ser674Ala Missense 8/19 - 1
8-21980106-CT-GA c.2020_2021delinsTC p.Ser674Ser Missense 8/19 - 1
8-21980344-G-C c.1964C>G p.Ala655Gly Missense 7/19 - 1
8-21980368-T-G c.1940A>C p.Glu647Ala Missense 7/19 - 1
8-21980378-A-C c.1930T>G p.Ser644Ala Missense 7/19 - 1
8-21980383-TC-AG c.1924_1925delinsCT p.Glu642Leu Missense 7/19 - 1
8-21981169-C-G c.1908G>C p.Glu636Asp Missense 6/19 - 1
8-21981169-C-A c.1908G>T p.Glu636Asp Missense 6/19 - 1
8-21981179-CG-TA c.1897_1898delinsTA p.Arg633* Nonsense 6/19 - 1
8-21981203-C-T c.1874G>A p.Cys625Tyr Missense 6/19 - 1
8-21981213-A-C c.1864T>G p.Cys622Gly Missense 6/19 - 3
8-21981218-C-T c.1859G>A p.Arg620Gln Missense 6/19 - 3
8-21981227-CA-AC c.1849_1850delinsGT p.Cys617Val Missense 6/19 - 1
8-21981227-CA-GC c.1849_1850delinsGC p.Cys617Ala Missense 6/19 - 1
8-21981228-A-C c.1849T>G p.Cys617Gly Missense 6/19 - 1
8-21981239-C-T c.1838G>A p.Arg613Gln Missense 6/19 - 1
8-21981245-T-C c.1832A>G p.His611Arg Missense 6/19 - 2
8-21981248-G-A c.1829C>T p.Thr610Ile Missense 6/19 - 2
8-21981253-G-A c.1824C>T p.Phe608Phe Synonymous 6/19 - 1
8-21981257-A-G c.1820T>C p.Leu607Pro Missense 6/19 - 1
8-21981260-C-G c.1817G>C p.Gly606Ala Missense 6/19 - 1
8-21981288-G-A c.1789C>T p.Pro597Ser Missense 6/19 - 1
8-21981299-CT-GC c.1777_1778delinsGC p.Ser593Ala Missense 6/19 - 1
8-21981305-T-C c.1772A>G p.Glu591Gly Missense 6/19 - 2
8-21981314-GC-AT c.1762_1763delinsAT p.Ala588Ile Missense 6/19 - 1
8-21981315-C-T c.1762G>A p.Ala588Thr Missense 6/19 - 1
8-21981318-G-A c.1759C>T p.Pro587Ser Missense 6/19 - 2
8-21981320-C-G c.1757G>C p.Gly586Ala Missense 6/19 - 1
8-21982825-TTC-ATG c.1747_1749delinsCAT p.Glu583His Missense 5/19 - 2
8-21982826-T-A c.1748A>T p.Glu583Val Missense 5/19 - 2
8-21982829-CG-GA c.1744_1745delinsTC p.Arg582Ser Missense 5/19 - 1
8-21982836-C-A c.1738G>T p.Ala580Ser Missense 5/19 - 1
8-21982842-C-T c.1732G>A p.Ala578Thr Missense 5/19 - 1
8-21982847-G-A c.1727C>T p.Ala576Val Missense 5/19 - 2
8-21982850-T-G c.1724A>C p.Glu575Ala Missense 5/19 - 2
8-21982851-C-G c.1723G>C p.Glu575Gln Missense 5/19 - 1
8-21982857-C-G c.1717G>C p.Glu573Gln Missense 5/19 - 1
8-21982859-CT-CC c.1714delinsG p.Arg572Gly Missense 5/19 - 1
8-21982865-AG-GC c.1708_1709delinsGC p.Leu570Ala Missense 5/19 - 1
8-21982876-CAG-ATC c.1696_1698delinsGAT p.Leu566Asp Missense 5/19 - 1
8-21982878-G-C c.1696C>G p.Leu566Val Missense 5/19 - 1
8-21982880-CG-AA c.1693_1694delinsTT p.Arg565Leu Missense 5/19 - 1
8-21982880-C-A c.1694G>T p.Arg565Leu Missense 5/19 - 1
8-21982880-CG-GC c.1693_1694delinsGC p.Arg565Ala Missense 5/19 - 1
8-21982880-CG-GA c.1693_1694delinsTC p.Arg565Ser Missense 5/19 - 1
8-21982886-C-CGGTG c.1687_1688insCACC p.Gly563Alafs*124 Frameshift 5/19 - 1
8-21982895-C-T c.1679G>A p.Ser560Asn Missense 5/19 - 1
8-21982916-CC-AT c.1657_1658delinsAT p.Gly553Ile Missense 5/19 - 1
8-21982928-C-T c.1646G>A p.Arg549Gln Missense 5/19 - 1
8-21982931-CT-GC c.1642_1643delinsGC p.Ser548Ala Missense 5/19 - 1
8-21982941-CCGGACCCTGGGCCTTCC-C c.1618_1634del p.Glu540Profs*2 Frameshift 5/19 - 1
8-21982942-GG-AA c.1631_1632delinsTT p.Ser544Phe Nonsense 5/19 - 1
8-21982956-C-T c.1618G>A p.Glu540Lys Missense 5/19 - 1
8-21982961-G-C c.1613C>G p.Ser538Cys Missense 5/19 - 1
8-21982962-A-C c.1612T>G p.Ser538Ala Missense 5/19 - 1
8-21982964-CT-CC c.1609delinsG p.Ser537Gly Missense 5/19 - 1
8-21982988-T-G c.1586A>C p.Glu529Ala Missense 5/19 - 1
8-21983098-C-T c.1553G>A p.Arg518Gln Missense 4/19 - 1
8-21983100-CAC-TGT c.1549_1551delinsACA p.Val517Thr Missense 4/19 - 2
8-21983111-A-C c.1540T>G p.Ser514Ala Missense 4/19 - 1
8-21983113-T-C c.1538A>G p.His513Arg Missense 4/19 - 2
8-21983119-G-A c.1532C>T p.Ala511Val Missense 4/19 - 1
8-21983120-C-A c.1531G>T p.Ala511Ser Missense 4/19 - 1
8-21983122-TG-GC c.1528_1529delinsGC p.His510Ala Missense 4/19 - 1
8-21983128-CC-CT c.1522delinsA p.Gly508Arg Missense 4/19 - 1
8-21983128-C-G c.1523G>C p.Gly508Ala Missense 4/19 - 1
8-21983128-CC-AT c.1522_1523delinsAT p.Gly508Ile Missense 4/19 - 1
8-21983140-GC-TG c.1510_1511delinsCA p.Ala504His Missense 4/19 - 1
8-21983142-TGC-TGT c.1507delinsA p.Ala503Thr Missense 4/19 - 1
8-21983149-GC-TG c.1501_1502delinsCA p.Ala501His Missense 4/19 - 3
8-21983152-C-A c.1499G>T p.Cys500Phe Missense 4/19 - 1
8-21983153-A-G c.1498T>C p.Cys500Arg Missense 4/19 - 1
8-21983153-A-C c.1498T>G p.Cys500Gly Missense 4/19 - 1
8-21983155-CT-CC c.1495delinsG p.Ser499Gly Missense 4/19 - 1
8-21983155-C-T c.1496G>A p.Ser499Asn Missense 4/19 - 1
8-21983187-CAG-TTT c.1462_1464delinsAAA p.Leu488Lys Missense 4/19 - 1
8-21983200-T-A c.1451A>T p.Asp484Val Missense 4/19 - 2
8-21983226-G-T c.1425C>A p.Ala475Ala Synonymous 4/19 - 1
8-21983226-G-C c.1425C>G p.Ala475Ala Synonymous 4/19 - 1
8-21983226-G-A c.1425C>T p.Ala475Ala Synonymous 4/19 - 1
8-21983235-ATC-TAA c.1414_1416delinsTTA p.Asp472Leu Nonsense 4/19 - 1
8-21984558-T-G c.1397A>C p.Glu466Ala Missense 3/19 - 1
8-21984561-T-G c.1394A>C p.Asp465Ala Missense 3/19 - 1
8-21984564-TG-GC c.1390_1391delinsGC p.His464Ala Missense 3/19 - 1
8-21984574-A-C c.1381T>G p.Ser461Ala Missense 3/19 - 1
8-21984576-T-G c.1379A>C p.Asp460Ala Missense 3/19 - 1
8-21984576-T-A c.1379A>T p.Asp460Val Missense 3/19 - 7
8-21984582-T-C c.1373A>G p.Asp458Gly Missense 3/19 - 1
8-21984585-TT-GC c.1369_1370delinsGC p.Lys457Ala Missense 3/19 - 1
8-21984591-C-G c.1364G>C p.Gly455Ala Missense 3/19 - 1
8-21984606-CG-GC c.1348_1349delinsGC p.Arg450Ala Missense 3/19 - 1
8-21984612-T-G c.1343A>C p.Glu448Ala Missense 3/19 - 1
8-21984624-C-G c.1331G>C p.Gly444Ala Missense 3/19 - 1
8-21984630-C-G c.1325G>C p.Gly442Ala Missense 3/19 - 1
8-21984636-T-G c.1319A>C p.Glu440Ala Missense 3/19 - 1
8-21984642-GT-TG c.1312_1313delinsCA p.Thr438His Missense 3/19 - 1
8-21984648-G-A c.1307C>T p.Pro436Leu Missense 3/19 - 2
8-21984650-AA-GG c.1304_1305delinsCC p.Phe435Ser Missense 3/19 - 1
8-21984663-G-A c.1292C>T p.Pro431Leu Missense 3/19 - 1
8-21984669-T-G c.1286A>C p.Lys429Thr Missense 3/19 - 1
8-21984679-G-C c.1276C>G p.Pro426Ala Missense 3/19 - 1
8-21984681-CT-GA c.1273_1274delinsTC p.Ser425Ser Missense 3/19 - 1
8-21984681-CT-GC c.1273_1274delinsGC p.Ser425Ala Missense 3/19 - 1
8-21984690-G-A c.1265C>T p.Ala422Val Missense 3/19 - 3
8-21984691-C-A c.1264G>T p.Ala422Ser Missense 3/19 - 1
8-21984694-C-T c.1261G>A p.Gly421Arg Missense 3/19 - 1
8-21984694-C-G c.1261G>C p.Gly421Arg Missense 3/19 - 1
8-21984696-TG-TC c.1258delinsG p.Gln420Glu Missense 3/19 - 1
8-21984702-T-G c.1253A>C p.Glu418Ala Missense 3/19 - 1
8-21984711-C-T c.1244G>A p.Gly415Asp Missense 3/19 - 1
8-21984712-C-T c.1243G>A p.Gly415Ser Missense 3/19 - 1
8-21984727-C-T c.1228G>A p.Ala410Thr Missense 3/19 - 1
8-21984729-CG-AA c.1225_1226delinsTT p.Arg409Leu Missense 3/19 - 1
8-21984729-CG-GC c.1225_1226delinsGC p.Arg409Ala Missense 3/19 - 1
8-21984734-CCG-GAC c.1219_1221delinsGTC p.Arg407Val Missense 3/19 - 1
8-21984747-CT-GC c.1207_1208delinsGC p.Arg403Ala Missense 3/19 - 1
8-21984747-CT-CA c.1207delinsT p.Arg403Trp Missense 3/19 - 6
8-21984756-AC-CC c.1199delinsG p.Val400Gly Missense 3/19 - 1
8-21984762-G-A c.1193C>T p.Pro398Leu Missense 3/19 - 1
8-21984765-C-T c.1190G>A p.Cys397Tyr Missense 3/19 - 2
8-21984765-CA-GC c.1189_1190delinsGC p.Cys397Ala Missense 3/19 - 1
8-21984768-C-T c.1187G>A p.Gly396Asp Missense 3/19 - 1
8-21984772-G-A c.1183C>T p.Arg395Cys Missense 3/19 - 1
8-21984780-T-G c.1175A>C p.Glu392Ala Missense 3/19 - 1
8-21984783-AA-GC c.1171_1172delinsGC p.Phe391Ala Missense 3/19 - 1
8-21984803-GAG-ATG c.1151_1152delinsAT p.Leu384His Missense 3/19 - 3
8-21984808-A-C c.1147T>G p.Trp383Gly Missense 3/19 - 1
8-21984811-T-C c.1144A>G p.Thr382Ala Missense 3/19 - 1
8-21984818-CAG-TTT c.1135_1137delinsAAA p.Leu379Lys Missense 3/19 - 1
8-21984820-G-A c.1135C>T p.Leu379Leu Synonymous 3/19 - 1
8-21984822-T-C c.1133A>G p.Lys378Arg Missense 3/19 - 1
8-21984822-TT-GC c.1132_1133delinsGC p.Lys378Ala Missense 3/19 - 1
8-21984826-T-C c.1129A>G p.Thr377Ala Missense 3/19 - 1
8-21984830-GTG-TAA c.1123_1125delinsTTA p.His375Leu Nonsense 3/19 - 1
8-21984830-GTG-TGG c.1124_1125delinsCA p.His375Pro Missense 3/19 - 1
8-21984831-TG-GG c.1124delinsC p.His375Pro Missense 3/19 - 1
8-21984831-TG-GC c.1123_1124delinsGC p.His375Ala Missense 3/19 - 1
8-21984832-G-T c.1123C>A p.His375Asn Missense 3/19 - 1
8-21984834-CT-CC c.1120delinsG p.Ser374Gly Missense 3/19 - 1
8-21984834-CT-GC c.1120_1121delinsGC p.Ser374Ala Missense 3/19 - 2
8-21984838-G-C c.1117C>G p.Pro373Ala Missense 3/19 - 1
8-21984841-G-A c.1114C>T p.Pro372Ser Missense 3/19 - 1
8-21984841-G-T c.1114C>A p.Pro372Thr Missense 3/19 - 1
8-21984858-GA-AT c.1096_1097delinsAT p.Ser366Ile Missense 3/19 - 1
8-21984858-GA-GT c.1096delinsA p.Ser366Thr Missense 3/19 - 1
8-21984859-A-C c.1096T>G p.Ser366Ala Missense 3/19 - 1
8-21984866-G-A c.1089C>T p.Asn363Asn Synonymous 3/19 - 1
8-21984867-TT-GC c.1087_1088delinsGC p.Asn363Ala Missense 3/19 - 1
8-21984867-T-C c.1088A>G p.Asn363Ser Missense 3/19 - 4
8-21984869-CAC-ATC c.1085_1086delinsAT p.Val362Asp Missense 3/19 - 1
8-21984884-T-A c.1071A>T p.Glu357Asp Missense 3/19 - 1
8-21984884-T-G c.1071A>C p.Glu357Asp Missense 3/19 - 1
8-21984885-T-G c.1070A>C p.Glu357Ala Missense 3/19 - 1
8-21984886-C-T c.1069G>A p.Glu357Lys Missense 3/19 - 1
8-21984886-C-G c.1069G>C p.Glu357Gln Missense 3/19 - 1
8-21984890-GG-AG c.1065delinsT p.Ala355Ala Missense 3/19 - 1
8-21984891-GC-TG c.1063_1064delinsCA p.Ala355His Missense 3/19 - 1
8-21984894-C-G c.1061G>C p.Gly354Ala Missense 3/19 - 2
8-21984897-CT-GC c.1057_1058delinsGC p.Ser353Ala Missense 3/19 - 1
8-21984905-CC-AC c.1050delinsT p.Gly350Gly Missense 3/19 - 1
8-21984906-C-CA c.1048_1049insT p.Gly350Valfs*43 Frameshift 3/19 - 1
8-21984906-CC-AC c.1049delinsT p.Gly350Val Missense 3/19 - 1
8-21984906-C-G c.1049G>C p.Gly350Ala Missense 3/19 - 2
8-21984912-A-G c.1043T>C p.Leu348Pro Missense 3/19 - 2
8-21984924-CA-GC c.1030_1031delinsGC p.Cys344Ala Missense 3/19 - 1
8-21984928-T-C c.1027A>G p.Lys343Glu Missense 3/19 - 1
8-21984933-CA-CT c.1021delinsA p.Cys341Ser Missense 3/19 - 1
8-21984933-CA-AC c.1021_1022delinsGT p.Cys341Val Missense 3/19 - 1
8-21984934-A-C c.1021T>G p.Cys341Gly Missense 3/19 - 2
8-21984945-C-T c.1010G>A p.Gly337Asp Missense 3/19 - 1
8-21984958-T-G c.997A>C p.Thr333Pro Missense 3/19 - 1
8-21984966-T-A c.989A>T p.Tyr330Phe Missense 3/19 - 3
8-21984969-G-C c.986C>G p.Ser329Cys Missense 3/19 - 1
8-21984970-A-C c.985T>G p.Ser329Ala Missense 3/19 - 2
8-21984972-G-C c.983C>G p.Ser328* Nonsense 3/19 - 1
8-21984973-A-C c.982T>G p.Ser328Ala Missense 3/19 - 1
8-21984975-C-G c.980G>C p.Cys327Ser Missense 3/19 - 1
8-21984976-A-T c.979T>A p.Cys327Ser Missense 3/19 - 1
8-21984979-A-C c.976T>G p.Cys326Gly Missense 3/19 - 1
8-21984981-C-T c.974G>A p.Gly325Asp Missense 3/19 - 1
8-21984981-C-G c.974G>C p.Gly325Ala Missense 3/19 - 1
8-21984982-C-G c.973G>C p.Gly325Arg Missense 3/19 - 2
8-21984989-GGT-GAG c.964_965delinsCT p.Thr322Leu Missense 3/19 - 1
8-21984989-G-C c.966C>G p.Thr322Thr Synonymous 3/19 - 1
8-21984989-G-T c.966C>A p.Thr322Thr Synonymous 3/19 - 1
8-21984989-G-A c.966C>T p.Thr322Thr Synonymous 3/19 - 1
8-21984991-T-C c.964A>G p.Thr322Ala Missense 3/19 - 1
8-21984995-AG-AA c.959delinsT p.Pro320Leu Missense 3/19 - 1
8-21984997-G-A c.958C>T p.Pro320Ser Missense 3/19 - 1
8-21985001-C-G c.954G>C p.Glu318Asp Missense 3/19 - 9
8-21985001-C-A c.954G>T p.Glu318Asp Missense 3/19 - 9
8-21985002-TC-TG c.952delinsC p.Glu318Gln Missense 3/19 - 1
8-21985002-T-G c.953A>C p.Glu318Ala Missense 3/19 - 4
8-21985006-G-A c.949C>T p.Pro317Ser Missense 3/19 - 1
8-21985009-A-C c.946T>G p.Ser316Ala Missense 3/19 - 1
8-21985014-CA-AC c.940_941delinsGT p.Cys314Val Missense 3/19 - 1
8-21985017-CT-CA c.937delinsT p.Arg313Trp Missense 3/19 - 1
8-21985017-CT-GC c.937_938delinsGC p.Arg313Ala Missense 3/19 - 1
8-21985017-C-T c.938G>A p.Arg313Lys Missense 3/19 - 1
8-21985023-G-A c.932C>T p.Thr311Ile Missense 3/19 - 1
8-21985038-A-G c.917T>C p.Leu306Pro Missense 3/19 - 1
8-21985045-A-G c.910T>C p.Tyr304His Missense 3/19 - 1
8-21985047-C-G c.908G>C p.Gly303Ala Missense 3/19 - 1
8-21985055-CCC-TGT c.898_900delinsACA p.Gly300Thr Missense 3/19 - 1
8-21985056-C-T c.899G>A p.Gly300Glu Missense 3/19 - 1
8-21985059-T-G c.896A>C p.Asp299Ala Missense 3/19 - 2
8-21985059-T-C c.896A>G p.Asp299Gly Missense 3/19 - 2
8-21985060-C-T c.895G>A p.Asp299Asn Missense 3/19 - 1
8-21985062-C-G c.893G>C p.Gly298Ala Missense 3/19 - 1
8-21985062-CC-AC c.893delinsT p.Gly298Val Missense 3/19 - 1
8-21985068-C-G c.887G>C p.Gly296Ala Missense 3/19 - 1
8-21985087-G-A c.868C>T p.Leu290Phe Missense 3/19 - 1
8-21985090-T-C c.865A>G p.Thr289Ala Missense 3/19 - 1
8-21985098-A-C c.857T>G p.Leu286Arg Missense 3/19 - 1
8-21985098-AG-GC c.856_857delinsGC p.Leu286Ala Missense 3/19 - 2
8-21985099-G-C c.856C>G p.Leu286Val Missense 3/19 - 1
8-21985101-C-G c.854G>C p.Gly285Ala Missense 3/19 - 1
8-21985102-C-G c.853G>C p.Gly285Arg Missense 3/19 - 1
8-21985104-G-C c.851C>G p.Pro284Arg Missense 3/19 - 1
8-21985107-GG-GA c.847delinsT p.Pro283Ser Missense 3/19 - 2
8-21985110-CA-AC c.844_845delinsGT p.Cys282Val Missense 3/19 - 1
8-21985110-C-T c.845G>A p.Cys282Tyr Missense 3/19 - 12
8-21985110-CA-GC c.844_845delinsGC p.Cys282Ala Missense 3/19 - 1
8-21985123-A-C c.832T>G p.Ser278Ala Missense 3/19 - 2
8-21985126-T-C c.829A>G p.Thr277Ala Missense 3/19 - 1
8-21985131-GG-TT c.823_824delinsAA p.Pro275Asn Missense 3/19 - 1
8-21985132-G-C c.823C>G p.Pro275Ala Missense 3/19 - 1
8-21985134-A-T c.821T>A p.Val274Glu Missense 3/19 - 1
8-21985135-C-G c.820G>C p.Val274Leu Missense 3/19 - 1
8-21985135-C-A c.820G>T p.Val274Leu Missense 3/19 - 1
8-21985137-GT-TG c.817_818delinsCA p.Thr273His Missense 3/19 - 1
8-21985139-G-C c.816C>G p.Asp272Glu Missense 3/19 - 1
8-21985140-T-G c.815A>C p.Asp272Ala Missense 3/19 - 1
8-21985147-G-T c.808C>A p.Gln270Lys Missense 3/19 - 1
8-21985152-AG-GA c.802_803delinsTC p.Leu268Ser Missense 3/19 - 1
8-21985152-A-G c.803T>C p.Leu268Pro Missense 3/19 - 1
8-21985158-AG-GA c.796_797delinsTC p.Leu266Ser Missense 3/19 - 1
8-21985158-AG-TG c.797delinsA p.Leu266His Missense 3/19 - 1
8-21985162-G-C c.793C>G p.Pro265Ala Missense 3/19 - 3
8-21985164-C-G c.791G>C p.Cys264Ser Missense 3/19 - 1
8-21985165-A-T c.790T>A p.Cys264Ser Missense 3/19 - 1
8-21985168-G-C c.787C>G p.Pro263Ala Missense 3/19 - 1
8-21985170-TT-GC c.784_785delinsGC p.Asn262Ala Missense 3/19 - 3
8-21985171-T-C c.784A>G p.Asn262Asp Missense 3/19 - 1
8-21985179-CG-GC c.775_776delinsGC p.Arg259Ala Missense 3/19 - 6
8-21985182-C-T c.773G>A p.Gly258Asp Missense 3/19 - 1
8-21985182-C-G c.773G>C p.Gly258Ala Missense 3/19 - 1
8-21985188-C-G c.767G>C p.Gly256Ala Missense 3/19 - 1
8-21985188-C-A c.767G>T p.Gly256Val Missense 3/19 - 1
8-21985190-C-A c.765G>T p.Met255Ile Missense 3/19 - 1
8-21985190-CAT-TAT c.765delinsA p.Met255Ile Missense 3/19 - 1
8-21985190-C-T c.765G>A p.Met255Ile Missense 3/19 - 1
8-21985190-C-G c.765G>C p.Met255Ile Missense 3/19 - 1
8-21985194-T-G c.761A>C p.Glu254Ala Missense 3/19 - 2
8-21985197-C-G c.758G>C p.Gly253Ala Missense 3/19 - 1
8-21985199-ATC-CAA c.754_756delinsTTG p.Asp252Leu Missense 3/19 - 1
8-21985200-TC-TT c.754delinsA p.Asp252Asn Missense 3/19 - 1
8-21985201-C-T c.754G>A p.Asp252Asn Missense 3/19 - 1
8-21985209-T-G c.746A>C p.His249Pro Missense 3/19 - 1
8-21985212-A-C c.743T>G p.Leu248Arg Missense 3/19 - 2
8-21985213-G-C c.742C>G p.Leu248Val Missense 3/19 - 9
8-21985213-G-T c.742C>A p.Leu248Met Missense 3/19 - 1
8-21985216-A-C c.739T>G p.Ser247Ala Missense 3/19 - 2
8-21985216-A-G c.739T>C p.Ser247Pro Missense 3/19 - 2
8-21985218-G-A c.737C>T p.Pro246Leu Missense 3/19 - 1
8-21985221-C-A c.734G>T p.Arg245Leu Missense 3/19 - 1
8-21985221-CG-GC c.733_734delinsGC p.Arg245Ala Missense 3/19 - 1
8-21985223-T-G c.732A>C p.Glu244Asp Missense 3/19 - 1
8-21985223-T-A c.732A>T p.Glu244Asp Missense 3/19 - 1
8-21985224-T-G c.731A>C p.Glu244Ala Missense 3/19 - 1
8-21985225-C-T c.730G>A p.Glu244Lys Missense 3/19 - 1
8-21985228-C-T c.727G>A p.Ala243Thr Missense 3/19 - 1
8-21985233-C-T c.722G>A p.Gly241Glu Missense 3/19 - 1
8-21985233-C-G c.722G>C p.Gly241Ala Missense 3/19 - 2
8-21985234-C-T c.721G>A p.Gly241Arg Missense 3/19 - 1
8-21985234-C-G c.721G>C p.Gly241Arg Missense 3/19 - 1
8-21985236-G-T c.719C>A p.Ala240Asp Missense 3/19 - 1
8-21985242-TG-GC c.712_713delinsGC p.Gln238Ala Missense 3/19 - 1
8-21985243-G-T c.712C>A p.Gln238Lys Missense 3/19 - 2
8-21985245-AG-GA c.709_710delinsTC p.Leu237Ser Missense 3/19 - 1
8-21985246-G-T c.709C>A p.Leu237Met Missense 3/19 - 2
8-21985248-TG-GC c.706_707delinsGC p.His236Ala Missense 3/19 - 1
8-21985253-AC-AG c.701delinsC p.Gly234Ala Missense 3/19 - 1
8-21985254-C-T c.701G>A p.Gly234Asp Missense 3/19 - 2
8-21985254-C-G c.701G>C p.Gly234Ala Missense 3/19 - 1
8-21985257-G-A c.698C>T p.Ser233Phe Missense 3/19 - 2
8-21985262-TAA-CAT c.691_693delinsATG p.Leu231Met Missense 3/19 - 1
8-21985263-TAAG-T c.690_692del p.Leu231del InFrameDeletion 3/19 - 1
8-21985267-C-G c.688G>C p.Gly230Arg Missense 3/19 - 2
8-21985269-AA-GC c.685_686delinsGC p.Phe229Ala Missense 3/19 - 1
8-21985278-G-A c.677C>T p.Pro226Leu Missense 3/19 - 4
8-21985279-G-T c.676C>A p.Pro226Thr Missense 3/19 - 1
8-21985281-T-G c.674A>C p.Glu225Ala Missense 3/19 - 1
8-21985284-GC-TA c.670_671delinsTA p.Ala224* Nonsense 3/19 - 1
8-21985287-G-A c.668C>T p.Ala223Val Missense 3/19 - 1
8-21985288-C-T c.667G>A p.Ala223Thr Missense 3/19 - 2
8-21985290-G-A c.665C>T p.Ala222Val Missense 3/19 - 1
8-21985293-AA-CC c.661_662delinsGG p.Leu221Gly Missense 3/19 - 1
8-21985296-G-A c.659C>T p.Pro220Leu Missense 3/19 - 1
8-21985299-T-G c.656A>C p.Glu219Ala Missense 3/19 - 2
8-21985303-T-C c.652A>G p.Lys218Glu Missense 3/19 - 1
8-21985310-CCT-TGT c.644_645delinsCA p.Arg215Thr Missense 3/19 - 1
8-21985311-CT-GC c.643_644delinsGC p.Arg215Ala Missense 3/19 - 1
8-21985312-T-A c.643A>T p.Arg215Trp Missense 3/19 - 4
8-21985320-CT-GA c.634_635delinsTC p.Ser212Ser Missense 3/19 - 2
8-21985320-C-A c.635G>T p.Ser212Ile Missense 3/19 - 1
8-21985327-C-T c.628G>A p.Asp210Asn Missense 3/19 - 2
8-21985329-T-C c.626A>G p.Lys209Arg Missense 3/19 - 2
8-21985335-TA-GC c.619_620delinsGC p.Tyr207Ala Missense 3/19 - 1
8-21985335-T-A c.620A>T p.Tyr207Phe Missense 3/19 - 1
8-21985336-A-C c.619T>G p.Tyr207Asp Missense 3/19 - 6
8-21985337-AAA-AAG c.616delinsC p.Phe206Leu Missense 3/19 - 1
8-21985338-AA-GC c.616_617delinsGC p.Phe206Ala Missense 3/19 - 1
8-21985340-GC-AG c.614_615delinsCT p.Gly205Ala Missense 3/19 - 3
8-21986074-T-C c.610A>G p.Lys204Glu Missense 2/19 - 1
8-21986084-GCT-GAG c.598_599delinsCT p.Ser200Leu Missense 2/19 - 2
8-21986085-CT-CC c.598delinsG p.Ser200Gly Missense 2/19 - 1
8-21986085-GCTGAA-G c.595_599del p.Phe199Leufs*118 Frameshift 2/19 - 1
8-21986088-AA-GC c.595_596delinsGC p.Phe199Ala Missense 2/19 - 1
8-21986088-A-T c.596T>A p.Phe199Tyr Missense 2/19 - 1
8-21986088-A-C c.596T>G p.Phe199Cys Missense 2/19 - 1
8-21986091-G-T c.593C>A p.Ala198Asp Missense 2/19 - 1
8-21986109-TG-GC c.574_575delinsGC p.Gln192Ala Missense 2/19 - 2
8-21986110-G-T c.574C>A p.Gln192Lys Missense 2/19 - 1
8-21986112-C-T c.572G>A p.Gly191Asp Missense 2/19 - 2
8-21986114-C-T c.570G>A p.Gly190Gly Synonymous 2/19 - 1
8-21986114-CCC-TGT c.568_570delinsACA p.Gly190Thr Missense 2/19 - 3
8-21986114-C-A c.570G>T p.Gly190Gly Synonymous 2/19 - 1
8-21986114-C-G c.570G>C p.Gly190Gly Synonymous 2/19 - 1
8-21986114-CCC-AGC c.569_570delinsCT p.Gly190Ala Missense 2/19 - 5
8-21986115-C-G c.569G>C p.Gly190Ala Missense 2/19 - 26
8-21986116-C-G c.568G>C p.Gly190Arg Missense 2/19 - 2
8-21986116-C-T c.568G>A p.Gly190Arg Missense 2/19 - 2
8-21986119-A-C c.565T>G p.Ser189Ala Missense 2/19 - 3
8-21986120-G-A c.564C>T p.Tyr188Tyr Synonymous 2/19 - 1
8-21986121-TA-CT c.562_563delinsAG p.Tyr188Ser Missense 2/19 - 7
8-21986121-T-C c.563A>G p.Tyr188Cys Missense 2/19 - 6
8-21986121-T-A c.563A>T p.Tyr188Phe Missense 2/19 - 1
8-21986122-A-G c.562T>C p.Tyr188His Missense 2/19 - 1
8-21986140-T-C c.544A>G p.Thr182Ala Missense 2/19 - 2
8-21986148-CA-GC c.535_536delinsGC p.Trp179Ala Missense 2/19 - 1
8-21986151-T-G c.533A>C p.Asp178Ala Missense 2/19 - 2
8-21986152-C-T c.532G>A p.Asp178Asn Missense 2/19 - 2
8-21986154-CA-GC c.529_530delinsGC p.Cys177Ala Missense 2/19 - 1
8-21986158-G-T c.526C>A p.Pro176Thr Missense 2/19 - 1
8-21986158-G-A c.526C>T p.Pro176Ser Missense 2/19 - 3
8-21986160-TG-GG c.524delinsC p.His175Pro Missense 2/19 - 1
8-21986169-G-A c.515C>T p.Pro172Leu Missense 2/19 - 2
8-21986172-AG-GC c.511_512delinsGC p.Leu171Ala Missense 2/19 - 1
8-21986175-C-G c.509G>C p.Gly170Ala Missense 2/19 - 1
8-21986175-C-T c.509G>A p.Gly170Asp Missense 2/19 - 1
8-21986176-C-G c.508G>C p.Gly170Arg Missense 2/19 - 1
8-21986179-A-G c.505T>C p.Ser169Pro Missense 2/19 - 1
8-21986180-CAC-ATC c.503_504delinsAT p.Val168Asp Missense 2/19 - 1
8-21986181-A-G c.503T>C p.Val168Ala Missense 2/19 - 2
8-21986183-TA-AT c.500_501delinsAT p.Leu167His Missense 2/19 - 1
8-21986183-TAG-TGT c.499_500delinsAC p.Leu167Thr Missense 2/19 - 1
8-21986183-TAG-ATG c.500_501delinsAT p.Leu167His Missense 2/19 - 1
8-21986184-A-G c.500T>C p.Leu167Pro Missense 2/19 - 2
8-21986184-AG-AC c.499delinsG p.Leu167Val Missense 2/19 - 1
8-21986194-G-C c.490C>G p.Pro164Ala Missense 2/19 - 1
8-21986197-A-C c.487T>G p.Leu163Val Missense 2/19 - 1
8-21986201-GG-AG c.483delinsT p.Thr161Thr Missense 2/19 - 3
8-21986205-G-A c.479C>T p.Pro160Leu Missense 2/19 - 1
8-21986205-G-C c.479C>G p.Pro160Arg Missense 2/19 - 1
8-21986205-GG-TA c.478_479delinsTA p.Pro160Tyr Missense 2/19 - 1
8-21986210-CC-TT c.473_474delinsAA p.Trp158* Missense 2/19 - 1
8-21986215-A-G c.469T>C p.Phe157Leu Missense 2/19 - 1
8-21986213-G-C c.471C>G p.Phe157Leu Missense 2/19 - 1
8-21986213-G-T c.471C>A p.Phe157Leu Missense 2/19 - 1
8-21986221-C-A c.463G>T p.Ala155Ser Missense 2/19 - 2
8-21986222-TC-AT c.461_462delinsAT p.Arg154His Missense 2/19 - 1
8-21986222-TCG-TGG c.461delinsC p.Arg154Pro Missense 2/19 - 2
8-21986226-T-G c.458A>C p.Glu153Ala Missense 2/19 - 1
8-21986227-C-G c.457G>C p.Glu153Gln Missense 2/19 - 1
8-21986233-T-G c.451A>C p.Ile151Leu Missense 2/19 - 1
8-21986235-TT-GC c.448_449delinsGC p.Lys150Ala Missense 2/19 - 2
8-21986238-GT-TT c.446delinsA p.Thr149Asn Missense 2/19 - 1
8-21986239-T-C c.445A>G p.Thr149Ala Missense 2/19 - 1
8-21986240-C-G c.444G>C p.Glu148Asp Missense 2/19 - 1
8-21986240-C-A c.444G>T p.Glu148Asp Missense 2/19 - 1
8-21986246-A-G c.438T>C p.Leu146Leu Synonymous 2/19 - 1
8-21986249-GA-GG c.434delinsC p.Phe145Ser Missense 2/19 - 1
8-21986250-AA-GC c.433_434delinsGC p.Phe145Ala Missense 2/19 - 1
8-21986257-A-C c.427T>G p.Cys143Gly Missense 2/19 - 2
8-21986262-C-G c.422G>C p.Trp141Ser Missense 2/19 - 2
8-21986262-CA-GC c.421_422delinsGC p.Trp141Ala Missense 2/19 - 1
8-21986268-CG-GC c.415_416delinsGC p.Arg139Ala Missense 2/19 - 2
8-21986268-CG-AA c.415_416delinsTT p.Arg139Leu Missense 2/19 - 1
8-21986272-A-T c.412T>A p.Phe138Ile Missense 2/19 - 1
8-21986274-GC-AA c.409_410delinsTT p.Ala137Phe Missense 2/19 - 1
8-21986274-G-A c.410C>T p.Ala137Val Missense 2/19 - 1
8-21986277-A-G c.407T>C p.Val136Ala Missense 2/19 - 1
8-21986281-G-C c.403C>G p.Pro135Ala Missense 2/19 - 1
8-21986281-G-A c.403C>T p.Pro135Ser Missense 2/19 - 1
8-21986283-T-G c.401A>C p.Asp134Ala Missense 2/19 - 2
8-21986286-CT-GC c.397_398delinsGC p.Ser133Ala Missense 2/19 - 1
8-21986289-TT-GC c.394_395delinsGC p.Lys132Ala Missense 2/19 - 2
8-21986295-TG-AG c.389delinsT p.His130Leu Missense 2/19 - 1
8-21986296-G-T c.388C>A p.His130Asn Missense 2/19 - 1
8-21986298-CC-AC c.386delinsT p.Gly129Val Missense 2/19 - 1
8-21986299-C-G c.385G>C p.Gly129Arg Missense 2/19 - 6
8-21986304-CT-GC c.379_380delinsGC p.Ser127Ala Missense 2/19 - 3
8-21986310-T-G c.374A>C p.Glu125Ala Missense 2/19 - 1
8-21986311-C-G c.373G>C p.Glu125Gln Missense 2/19 - 1
8-21986312-A-AA c.372dup p.Glu125* Nonsense 2/19 - 1
8-21986316-A-G c.368T>C p.Met123Thr Missense 2/19 - 1
8-21986318-CAG-TGT c.364_366delinsACA p.Leu122Thr Missense 2/19 - 2
8-21986320-G-C c.364C>G p.Leu122Val Missense 2/19 - 1
8-21986326-C-G c.358G>C p.Gly120Arg Missense 2/19 - 1
8-21986330-G-T c.354C>A p.Arg118Arg Synonymous 2/19 - 1
8-21986330-G-A c.354C>T p.Arg118Arg Synonymous 2/19 - 1
8-21986330-G-C c.354C>G p.Arg118Arg Synonymous 2/19 - 1
8-21986330-GC-AA c.353_354delinsTT p.Arg118Leu Missense 2/19 - 1
8-21986331-CG-GC c.352_353delinsGC p.Arg118Ala Missense 2/19 - 2
8-21986332-G-A c.352C>T p.Arg118Cys Missense 2/19 - 1
8-21986332-G-C c.352C>G p.Arg118Gly Missense 2/19 - 5
8-21986337-G-A c.347C>T p.Pro116Leu Missense 2/19 - 1
8-21986340-CA-GC c.343_344delinsGC p.Cys115Ala Missense 2/19 - 1
8-21986342-CGC-TAT c.340_342delinsATA p.Ala114Ile Missense 2/19 - 1
8-21986346-G-C c.338C>G p.Pro113Arg Missense 2/19 - 1
8-21986349-C-G c.335G>C p.Gly112Ala Missense 2/19 - 2
8-21986349-C-T c.335G>A p.Gly112Glu Missense 2/19 - 2
8-21986352-CA-AC c.331_332delinsGT p.Cys111Val Missense 2/19 - 2
8-21986353-A-T c.331T>A p.Cys111Ser Missense 2/19 - 1
8-21986353-A-C c.331T>G p.Cys111Gly Missense 2/19 - 2
8-21986352-C-G c.332G>C p.Cys111Ser Missense 2/19 - 1
8-21986354-GA-AA c.330delinsT p.Phe110Phe Nonsense 2/19 - 1
8-21986356-A-T c.328T>A p.Phe110Ile Missense 2/19 - 1
8-21986362-G-C c.322C>G p.Leu108Val Missense 2/19 - 2
8-21986366-A-C c.318T>G p.His106Gln Missense 2/19 - 2
8-21986366-ATG-TGG c.317_318delinsCA p.His106Pro Missense 2/19 - 1
8-21986366-ATG-AAG c.317delinsT p.His106Leu Missense 2/19 - 1
8-21986367-T-C c.317A>G p.His106Arg Missense 2/19 - 1
8-21986367-TG-GC c.316_317delinsGC p.His106Ala Missense 2/19 - 3
8-21986368-G-A c.316C>T p.His106Tyr Missense 2/19 - 2
8-21986370-GT-TG c.313_314delinsCA p.Thr105His Missense 2/19 - 1
8-21986371-T-C c.313A>G p.Thr105Ala Missense 2/19 - 2
8-21986376-AT-GA c.307_308delinsTC p.Met103Ser Missense 2/19 - 1
8-21986381-C-G c.303G>C p.Glu101Asp Missense 2/19 - 1
8-21986381-C-A c.303G>T p.Glu101Asp Missense 2/19 - 1
8-21986382-T-G c.302A>C p.Glu101Ala Missense 2/19 - 1
8-21986382-T-C c.302A>G p.Glu101Gly Missense 2/19 - 2
8-21986383-C-A c.301G>T p.Glu101* Nonsense 2/19 - 1
8-21986384-C-G c.300G>C p.Lys100Asn Missense 2/19 - 1
8-21986384-C-A c.300G>T p.Lys100Asn Missense 2/19 - 1
8-21986386-T-A c.298A>T p.Lys100* Nonsense 2/19 - 3
8-21986386-T-C c.298A>G p.Lys100Glu Missense 2/19 - 1
8-21986386-T-G c.298A>C p.Lys100Gln Missense 2/19 - 1
8-21986387-CCA-CAT c.295_296delinsAT p.Trp99Met Missense 2/19 - 1
8-21986388-CA-GC c.295_296delinsGC p.Trp99Ala Missense 2/19 - 1
8-21986390-GCG-GAG c.293delinsT p.Arg98Leu Missense 2/19 - 1
8-21986390-GCG-ATG c.293_294delinsAT p.Arg98His Missense 2/19 - 1
8-21986391-CG-GC c.292_293delinsGC p.Arg98Ala Missense 2/19 - 3
8-21986392-G-C c.292C>G p.Arg98Gly Missense 2/19 - 1
8-21986393-CAG-ATC c.289_291delinsGAT p.Leu97Asp Missense 2/19 - 1
8-21986397-C-G c.287G>C p.Gly96Ala Missense 2/19 - 2
8-21986397-C-A c.287G>T p.Gly96Val Missense 2/19 - 1
8-21986401-C-A c.283G>T p.Glu95* Nonsense 2/19 - 1
8-21986406-C-T c.278G>A p.Ser93Asn Missense 2/19 - 1
8-21986407-T-A c.277A>T p.Ser93Cys Missense 2/19 - 1
8-21986414-CCA-GAC c.268_270delinsGTC p.Trp90Val Missense 2/19 - 1
8-21986415-CA-GC c.268_269delinsGC p.Trp90Ala Missense 2/19 - 2
8-21986418-TT-GC c.265_266delinsGC p.Asn89Ala Missense 2/19 - 1
8-21986421-AC-CG c.262_263delinsCG p.Val88Arg Missense 2/19 - 1
8-21986424-TT-GC c.259_260delinsGC p.Lys87Ala Missense 2/19 - 2
8-21986427-CT-GC c.256_257delinsGC p.Arg86Ala Missense 2/19 - 1
8-21986427-CT-GA c.256_257delinsTC p.Arg86Ser Missense 2/19 - 1
8-21986429-CTC-CAT c.253_254delinsAT p.Glu85Met Missense 2/19 - 1
8-21986430-T-G c.254A>C p.Glu85Ala Missense 2/19 - 3
8-21986431-C-T c.253G>A p.Glu85Lys Missense 2/19 - 2
8-21986432-CCC-AAC c.251_252delinsTT p.Gly84Val Missense 2/19 - 1
8-21986433-C-T c.251G>A p.Gly84Glu Missense 2/19 - 4
8-21986433-C-G c.251G>C p.Gly84Ala Missense 2/19 - 1
8-21986435-ATT-CAA c.247_249delinsTTG p.Asn83Leu Missense 2/19 - 1
8-21986437-T-C c.247A>G p.Asn83Asp Missense 2/19 - 3
8-21986443-G-T c.241C>A p.Pro81Thr Missense 2/19 - 1
8-21986444-GCC-TGG c.238_240delinsCCA p.Gly80Pro Missense 2/19 - 1
8-21986445-C-T c.239G>A p.Gly80Asp Missense 2/19 - 1
8-21986445-C-G c.239G>C p.Gly80Ala Missense 2/19 - 3
8-21986445-CC-AC c.239delinsT p.Gly80Val Missense 2/19 - 1
8-21986447-C-T c.237G>A p.Glu79Glu Synonymous 2/19 - 2
8-21986448-T-C c.236A>G p.Glu79Gly Missense 2/19 - 1
8-21986448-T-G c.236A>C p.Glu79Ala Missense 2/19 - 4
8-21986449-C-T c.235G>A p.Glu79Lys Missense 2/19 - 1
8-21986451-C-G c.233G>C p.Gly78Ala Missense 2/19 - 2
8-21986453-CTC-TTT c.229_231delinsAAA p.Glu77Lys Missense 2/19 - 1
8-21986453-C-A c.231G>T p.Glu77Asp Missense 2/19 - 1
8-21986453-C-G c.231G>C p.Glu77Asp Missense 2/19 - 1
8-21986453-C-T c.231G>A p.Glu77Glu Synonymous 2/19 - 1
8-21986454-T-A c.230A>T p.Glu77Val Missense 2/19 - 1
8-21986454-T-G c.230A>C p.Glu77Ala Missense 2/19 - 4
8-21986455-C-G c.229G>C p.Glu77Gln Missense 2/19 - 1
8-21986455-C-A c.229G>T p.Glu77* Nonsense 2/19 - 1
8-21986457-A-G c.227T>C p.Val76Ala Missense 2/19 - 2
8-21986459-AAG-ATG c.224delinsA p.Leu75His Missense 2/19 - 1
8-21986460-A-C c.224T>G p.Leu75Arg Missense 2/19 - 1
8-21986460-AG-GC c.223_224delinsGC p.Leu75Ala Missense 2/19 - 3
8-21986461-G-A c.223C>T p.Leu75Phe Missense 2/19 - 1
8-21986466-A-G c.218T>C p.Leu73Pro Missense 2/19 - 1
8-21986470-T-TT c.214dup p.Met72Asnfs*54 Frameshift 2/19 - 1
8-21986471-GTC-AAG c.211_213delinsCTT p.Asp71Leu Missense 2/19 - 1
8-21986472-T-G c.212A>C p.Asp71Ala Missense 2/19 - 3
8-21986472-TC-TT c.211delinsA p.Asp71Asn Missense 2/19 - 1
8-21986472-TC-CG c.211_212delinsCG p.Asp71Arg Missense 2/19 - 1
8-21986474-CTT-TGT c.209_210delinsCA p.Lys70Thr Missense 2/19 - 1
8-21986475-T-C c.209A>G p.Lys70Arg Missense 2/19 - 9
8-21986476-T-G c.208A>C p.Lys70Gln Missense 2/19 - 4
8-21986476-T-C c.208A>G p.Lys70Glu Missense 2/19 - 5
8-21986476-T-A c.208A>T p.Lys70* Nonsense 2/19 - 1
8-21986477-GGG-GAG c.206delinsT p.Pro69Leu Missense 2/19 - 4
8-21986478-GG-TT c.205_206delinsAA p.Pro69Asn Missense 2/19 - 3
8-21986478-GG-TG c.206delinsA p.Pro69His Missense 2/19 - 4
8-21986479-G-C c.205C>G p.Pro69Ala Missense 2/19 - 4
8-21986479-G-A c.205C>T p.Pro69Ser Missense 2/19 - 2
8-21986484-T-A c.200A>T p.Gln67Leu Missense 2/19 - 2
8-21986487-G-A c.197C>T p.Pro66Leu Missense 2/19 - 1
8-21986488-G-C c.196C>G p.Pro66Ala Missense 2/19 - 1
8-21986493-C-G c.191G>C p.Gly64Ala Missense 2/19 - 2
8-21986493-C-A c.191G>T p.Gly64Val Missense 2/19 - 1
8-21986493-C-T c.191G>A p.Gly64Asp Missense 2/19 - 1
8-21986494-C-A c.190G>T p.Gly64Cys Missense 2/19 - 1
8-21986500-G-C c.184C>G p.Pro62Ala Missense 2/19 - 1
8-21986502-AG-GA c.181_182delinsTC p.Leu61Ser Missense 2/19 - 1
8-21986504-C-A c.180G>T p.Trp60Cys Missense 2/19 - 1
8-21986504-C-G c.180G>C p.Trp60Cys Missense 2/19 - 1
8-21986507-G-T c.177C>A p.Ser59Ser Synonymous 2/19 - 1
8-21986507-G-C c.177C>G p.Ser59Ser Synonymous 2/19 - 1
8-21986508-G-T c.176C>A p.Ser59Tyr Missense 2/19 - 1
8-21986508-G-A c.176C>T p.Ser59Phe Missense 2/19 - 1
8-21986510-G-T c.174C>A p.Asp58Glu Missense 2/19 - 2
8-21986510-G-C c.174C>G p.Asp58Glu Missense 2/19 - 2
8-21986511-T-G c.173A>C p.Asp58Ala Missense 2/19 - 9
8-21986511-TC-AC c.173delinsT p.Asp58Val Missense 2/19 - 1
8-21986511-T-C c.173A>G p.Asp58Gly Missense 2/19 - 1
8-21986513-TGG-TGT c.169delinsA p.Pro57Thr Missense 2/19 - 1
8-21986514-GG-AA c.169_170delinsTT p.Pro57Leu Missense 2/19 - 1
8-21986515-G-A c.169C>T p.Pro57Ser Missense 2/19 - 1
8-21986515-G-C c.169C>G p.Pro57Ala Missense 2/19 - 1
8-21986517-GT-CA c.166_167delinsTG p.Thr56Cys Missense 2/19 - 3
8-21986517-G-A c.167C>T p.Thr56Ile Missense 2/19 - 1
8-21986518-T-C c.166A>G p.Thr56Ala Missense 2/19 - 1
8-21986519-G-A c.165C>T p.Ser55Ser Synonymous 2/19 - 1
8-21986520-CT-GC c.163_164delinsGC p.Ser55Ala Missense 2/19 - 3
8-21986521-T-A c.163A>T p.Ser55Cys Missense 2/19 - 1
8-21986522-CAG-TTT c.160_162delinsAAA p.Leu54Lys Missense 2/19 - 2
8-21986523-AG-TG c.161delinsA p.Leu54Gln Missense 2/19 - 1
8-21986524-G-T c.160C>A p.Leu54Met Missense 2/19 - 3
8-21986524-G-C c.160C>G p.Leu54Val Missense 2/19 - 1
8-21986526-AC-TG c.157_158delinsCA p.Val53His Missense 2/19 - 1
8-21986529-CC-AC c.155delinsT p.Gly52Val Missense 2/19 - 2
8-21986529-C-G c.155G>C p.Gly52Ala Missense 2/19 - 1
8-21986530-C-A c.154G>T p.Gly52Cys Missense 2/19 - 1
8-21986532-CT-GC c.151_152delinsGC p.Arg51Ala Missense 2/19 - 1
8-21986532-CT-GA c.151_152delinsTC p.Arg51Ser Missense 2/19 - 1
8-21986537-A-G c.147T>C p.Phe49Phe Synonymous 2/19 - 1
8-21986538-AA-GC c.145_146delinsGC p.Phe49Ala Missense 2/19 - 2
8-21986538-A-T c.146T>A p.Phe49Tyr Missense 2/19 - 2
8-21986541-GG-AA c.142_143delinsTT p.Pro48Phe Missense 2/19 - 5
8-21986541-GG-TG c.143delinsA p.Pro48His Missense 2/19 - 1
8-21986541-G-A c.143C>T p.Pro48Leu Missense 2/19 - 1
8-21986542-G-A c.142C>T p.Pro48Ser Missense 2/19 - 2
8-21986544-GC-TT c.139_140delinsAA p.Ala47Asn Missense 2/19 - 2
8-21986544-GC-TG c.139_140delinsCA p.Ala47His Missense 2/19 - 2
8-21986544-G-T c.140C>A p.Ala47Asp Missense 2/19 - 2
8-21986546-A-T c.138T>A p.Pro46Pro Synonymous 2/19 - 1
8-21986546-A-C c.138T>G p.Pro46Pro Synonymous 2/19 - 1
8-21986546-A-G c.138T>C p.Pro46Pro Synonymous 2/19 - 1
8-21986548-G-A c.136C>T p.Pro46Ser Missense 2/19 - 1
8-21986549-C-T c.135G>A p.Glu45Glu Synonymous 2/19 - 1
8-21986549-CTC-TTT c.133_135delinsAAA p.Glu45Lys Missense 2/19 - 1
8-21986550-T-G c.134A>C p.Glu45Ala Missense 2/19 - 2
8-21986550-TC-AG c.133_134delinsCT p.Glu45Leu Missense 2/19 - 1
8-21986551-C-T c.133G>A p.Glu45Lys Missense 2/19 - 1
8-21986553-C-G c.131G>C p.Gly44Ala Missense 2/19 - 2
8-21986556-A-G c.128T>C p.Leu43Pro Missense 2/19 - 3
8-21986556-AG-GC c.127_128delinsGC p.Leu43Ala Missense 2/19 - 1
8-21986558-G-A c.126C>T p.Cys42Cys Synonymous 2/19 - 1
8-21986558-GCA-GAG c.124_125delinsCT p.Cys42Leu Missense 2/19 - 1
8-21986559-CA-GC c.124_125delinsGC p.Cys42Ala Missense 2/19 - 2
8-21986559-C-A c.125G>T p.Cys42Phe Missense 2/19 - 1
8-21986559-CA-GA c.125delinsC p.Cys42Ser Missense 2/19 - 1
8-21986559-C-G c.125G>C p.Cys42Ser Missense 2/19 - 5
8-21986560-A-T c.124T>A p.Cys42Ser Missense 2/19 - 5
8-21986561-C-T c.123G>A p.Leu41Leu Synonymous 2/19 - 1
8-21986563-G-A c.121C>T p.Leu41Leu Synonymous 2/19 - 1
8-21986561-C-G c.123G>C p.Leu41Leu Synonymous 2/19 - 1
8-21986561-C-A c.123G>T p.Leu41Leu Synonymous 2/19 - 1
8-21986562-AG-TA c.121_122delinsTA p.Leu41* Nonsense 2/19 - 1
8-21986562-A-T c.122T>A p.Leu41Gln Missense 2/19 - 2
8-21986566-G-A c.118C>T p.Pro40Ser Missense 2/19 - 2
8-21986566-G-T c.118C>A p.Pro40Thr Missense 2/19 - 1
8-21986567-CCC-TGT c.115_117delinsACA p.Gly39Thr Missense 2/19 - 1
8-21986568-C-A c.116G>T p.Gly39Val Missense 2/19 - 1
8-21986568-C-G c.116G>C p.Gly39Ala Missense 2/19 - 2
8-21986571-TG-GC c.112_113delinsGC p.His38Ala Missense 2/19 - 3
8-21986571-TG-GG c.113delinsC p.His38Pro Missense 2/19 - 1
8-21986574-TG-GC c.109_110delinsGC p.His37Ala Missense 2/19 - 2
8-21986574-TG-GT c.109_110delinsAC p.His37Thr Missense 2/19 - 1
8-21986574-T-C c.110A>G p.His37Arg Missense 2/19 - 4
8-21986575-G-A c.109C>T p.His37Tyr Missense 2/19 - 2
8-21986577-AG-GC c.106_107delinsGC p.Leu36Ala Missense 2/19 - 2
8-21986577-AG-GA c.106_107delinsTC p.Leu36Ser Missense 2/19 - 2
8-21986577-AG-TG c.107delinsA p.Leu36Gln Missense 2/19 - 4
8-21986579-TCC-TGT c.103_104delinsAC p.Gly35Thr Missense 2/19 - 3
8-21986580-CC-AC c.104delinsT p.Gly35Val Missense 2/19 - 1
8-21986580-C-G c.104G>C p.Gly35Ala Missense 2/19 - 3
8-21986581-C-G c.103G>C p.Gly35Arg Missense 2/19 - 1
8-21986581-C-T c.103G>A p.Gly35Arg Missense 2/19 - 1
8-21986583-T-G c.101A>C p.Asp34Ala Missense 2/19 - 2
8-21986583-TC-TT c.100delinsA p.Asp34Asn Missense 2/19 - 1
8-21986589-GG-GA c.94delinsT p.Pro32Ser Missense 2/19 - 1
8-21986592-G-A c.92C>T p.Pro31Leu Missense 2/19 - 1
8-21986593-G-T c.91C>A p.Pro31Thr Missense 2/19 - 2
8-21986594-GCT-GAG c.88_89delinsCT p.Ser30Leu Missense 2/19 - 1
8-21986594-GC-AG c.89_90delinsCT p.Ser30Thr Missense 2/19 - 1
8-21986595-C-T c.89G>A p.Ser30Asn Missense 2/19 - 1
8-21986595-CT-GC c.88_89delinsGC p.Ser30Ala Missense 2/19 - 1
8-21986596-T-A c.88A>T p.Ser30Cys Missense 2/19 - 1
8-21986596-T-C c.88A>G p.Ser30Gly Missense 2/19 - 1
8-21986598-C-G c.86G>C p.Gly29Ala Missense 2/19 - 1
8-21986598-CC-AT c.85_86delinsAT p.Gly29Ile Missense 2/19 - 1
8-21986601-GG-TG c.83delinsA p.Pro28His Missense 2/19 - 1
8-21986602-G-C c.82C>G p.Pro28Ala Missense 2/19 - 1
8-21986602-G-A c.82C>T p.Pro28Ser Missense 2/19 - 1
8-21986603-C-T c.81G>A p.Glu27Glu Synonymous 2/19 - 7
8-21986603-C-G c.81G>C p.Glu27Asp Missense 2/19 - 1
8-21986603-C-A c.81G>T p.Glu27Asp Missense 2/19 - 1
8-21986603-CTC-TGT c.79_81delinsACA p.Glu27Thr Missense 2/19 - 2
8-21986604-T-A c.80A>T p.Glu27Val Missense 2/19 - 1
8-21986605-C-G c.79G>C p.Glu27Gln Missense 2/19 - 4
8-21986607-T-A c.77A>T p.Gln26Leu Missense 2/19 - 1
8-21986607-T-C c.77A>G p.Gln26Arg Missense 2/19 - 2
8-21986608-G-C c.76C>G p.Gln26Glu Missense 2/19 - 1
8-21986609-TCT-TGT c.74delinsC p.Arg25Thr Missense 2/19 - 2
8-21986610-CT-GC c.73_74delinsGC p.Arg25Ala Missense 2/19 - 2
8-21986610-CT-GA c.73_74delinsTC p.Arg25Ser Missense 2/19 - 3
8-21986610-CT-CC c.73delinsG p.Arg25Gly Missense 2/19 - 2
8-21986610-C-G c.74G>C p.Arg25Thr Missense 2/19 - 16
8-21986611-T-C c.73A>G p.Arg25Gly Missense 2/19 - 2
8-21986612-CAC-TGT c.70_72delinsACA p.Val24Thr Missense 2/19 - 1
8-21986616-AT-GC c.67_68delinsGC p.Ile23Ala Missense 2/19 - 1
8-21986618-GC-AG c.65_66delinsCT p.Gly22Ala Missense 2/19 - 1
8-21986619-C-T c.65G>A p.Gly22Asp Missense 2/19 - 1
8-21986620-C-G c.64G>C p.Gly22Arg Missense 2/19 - 1
8-21986620-C-T c.64G>A p.Gly22Ser Missense 2/19 - 1
8-21986623-T-C c.61A>G p.Asn21Asp Missense 2/19 - 1
8-21986624-C-T c.60G>A p.Glu20Glu Synonymous 2/19 - 3
8-21986624-CTC-TTT c.58_60delinsAAA p.Glu20Lys Missense 2/19 - 1
8-21986625-T-G c.59A>C p.Glu20Ala Missense 2/19 - 3
8-21986627-TGG-TTT c.55_56delinsAA p.Pro19Lys Missense 2/19 - 1
8-21986628-G-C c.56C>G p.Pro19Arg Missense 2/19 - 2
8-21986629-G-C c.55C>G p.Pro19Ala Missense 2/19 - 1
8-21986630-GG-AG c.54delinsT p.Ala18Ala Missense 2/19 - 2
8-21986631-GC-TT c.52_53delinsAA p.Ala18Asn Missense 2/19 - 4
8-21986631-GC-TG c.52_53delinsCA p.Ala18His Missense 2/19 - 2
8-21986631-G-T c.53C>A p.Ala18Asp Missense 2/19 - 2
8-21986633-C-CA c.50_51insT p.Ala18Glyfs*108 Frameshift 2/19 - 1
8-21986633-CG-AC c.50_51delinsGT p.Thr17Ser Missense 2/19 - 1
8-21986633-CGT-TTT c.50_51delinsAA p.Thr17Lys Missense 2/19 - 2
8-21986634-G-C c.50C>G p.Thr17Arg Missense 2/19 - 1
8-21986635-T-C c.49A>G p.Thr17Ala Missense 2/19 - 2
8-21986636-CTT-TGT c.47_48delinsCA p.Lys16Thr Missense 2/19 - 1
8-21986637-TT-CC c.46_47delinsGG p.Lys16Gly Missense 2/19 - 1
8-21986637-T-C c.47A>G p.Lys16Arg Missense 2/19 - 1
8-21986637-TT-GC c.46_47delinsGC p.Lys16Ala Missense 2/19 - 2
8-21986637-TT-GG c.46_47delinsCC p.Lys16Pro Missense 2/19 - 1
8-21986638-T-G c.46A>C p.Lys16Gln Missense 2/19 - 1
8-21986639-CTC-TGT c.43_45delinsACA p.Glu15Thr Missense 2/19 - 2
8-21986639-C-G c.45G>C p.Glu15Asp Missense 2/19 - 2
8-21986639-C-T c.45G>A p.Glu15Glu Synonymous 2/19 - 1
8-21986639-C-A c.45G>T p.Glu15Asp Missense 2/19 - 2
8-21986640-T-G c.44A>C p.Glu15Ala Missense 2/19 - 1
8-21986646-G-T c.38C>A p.Thr13Asn Missense 2/19 - 1
8-21986646-GT-TG c.37_38delinsCA p.Thr13His Missense 2/19 - 1
8-21986647-T-C c.37A>G p.Thr13Ala Missense 2/19 - 4
8-21986648-TGG-ATG c.35_36delinsAT p.Pro12His Missense 2/19 - 2
8-21986648-TG-AT c.35_36delinsAT p.Pro12His Missense 2/19 - 1
8-21986650-G-C c.34C>G p.Pro12Ala Missense 2/19 - 13
8-21986650-G-A c.34C>T p.Pro12Ser Missense 2/19 - 3
8-21986651-GGT-GAG c.31_32delinsCT p.Thr11Leu Missense 2/19 - 1
8-21986651-G-T c.33C>A p.Thr11Thr Synonymous 2/19 - 1
8-21986651-G-C c.33C>G p.Thr11Thr Synonymous 2/19 - 1
8-21986651-G-A c.33C>T p.Thr11Thr Synonymous 2/19 - 1
8-21986653-T-A c.31A>T p.Thr11Ser Missense 2/19 - 1
8-21986652-GT-TG c.31_32delinsCA p.Thr11His Missense 2/19 - 2
8-21986652-GT-CT c.32delinsG p.Thr11Ser Missense 2/19 - 1
8-21986652-G-C c.32C>G p.Thr11Ser Missense 2/19 - 1
8-21986653-T-C c.31A>G p.Thr11Ala Missense 2/19 - 3
8-21986654-G-C c.30C>G p.Gly10Gly Synonymous 2/19 - 1
8-21986654-G-A c.30C>T p.Gly10Gly Synonymous 2/19 - 1
8-21986654-G-T c.30C>A p.Gly10Gly Synonymous 2/19 - 1
8-21986654-GCC-AAG c.28_30delinsCTT p.Gly10Leu Missense 2/19 - 1
8-21986655-CC-CA c.28delinsT p.Gly10Cys Missense 2/19 - 4
8-21986655-C-G c.29G>C p.Gly10Ala Missense 2/19 - 1
8-21986656-C-T c.28G>A p.Gly10Ser Missense 2/19 - 2
8-21986671-G-GTTTC c.12_13insGAAA p.Pro5Glufs*122 Frameshift 2/19 - 1
8-21986680-C-T c.4G>A p.Glu2Lys Missense 2/19 - 1
8-21986683-T-C c.1A>G p.Met1? Missense 2/19 - 1