GDF5

GDF5 growth differentiation factor 5

Annotation transcript: NM_000557.5

785 unique variant annotations were identified in 524 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
20-34021714-C-G c.1499G>C p.C500S Missense 2/2 - 1
20-34021715-A-G c.1498T>C p.C500R Missense 2/2 - 1
20-34021715-A-T c.1498T>A p.C500S Missense 2/2 - 1
20-34021720-C-A c.1493G>T p.C498F Missense 2/2 - 1
20-34021720-C-G c.1493G>C p.C498S Missense 2/2 - 2
20-34021721-A-T c.1492T>A p.C498S Missense 2/2 - 1
20-34021723-G-A c.1490C>T p.S497L Missense 2/2 - 2
20-34021731-G-A c.1482C>T p.V494= Synonymous 2/2 - 3
20-34021740-C-T c.1473G>A p.E491= Synonymous 2/2 - 1
20-34021742-C-T c.1471G>A p.E491K Missense 2/2 - 9
20-34021743-A-G c.1470T>C p.Y490= Synonymous 2/2 - 1
20-34021745-A-T c.1468T>A p.Y490N Missense 2/2 - 1
20-34021746-C-A c.1467G>T p.Q489H Missense 2/2 - 1
20-34021746-C-G c.1467G>C p.Q489H Missense 2/2 - 1
20-34021746-C-T c.1467G>A p.Q489= Synonymous 2/2 - 1
20-34021746-CTG-GTC c.1465_1467delinsGAC p.Q489D Missense 2/2 - 1
20-34021748-G-T c.1465C>A p.Q489K Missense 2/2 - 4
20-34021751-T-A c.1462A>T p.K488* Nonsense 2/2 - 1
20-34021751-T-C c.1462A>G p.K488E Missense 2/2 - 2
20-34021752-A-C c.1461T>G p.Y487* Nonsense 2/2 - 2
20-34021752-ATA-CTT c.1459_1461delinsAAG p.Y487K Missense 2/2 - 1
20-34021754-A-G c.1459T>C p.Y487H Missense 2/2 - 1
20-34021755-C-A c.1458G>T p.V486= Synonymous 2/2 - 1
20-34021755-C-G c.1458G>C p.V486= Synonymous 2/2 - 1
20-34021755-C-T c.1458G>A p.V486= Synonymous 2/2 - 1
20-34021756-A-G c.1457T>C p.V486A Missense 2/2 - 1
20-34021757-C-T c.1456G>A p.V486M Missense 2/2 - 2
20-34021761-G-A c.1452C>T p.N484= Synonymous 2/2 - 1
20-34021769-C-A c.1444G>T p.A482S Missense 2/2 - 1
20-34021775-C-A c.1438G>T p.D480Y Missense 2/2 - 1
20-34021778-T-C c.1435A>G p.I479V Missense 2/2 - 1
20-34021779-G-A c.1434C>T p.F478= Synonymous 2/2 - 3
20-34021784-G-A c.1429C>T p.L477F Missense 2/2 - 3
20-34021784-G-C c.1429C>G p.L477V Missense 2/2 - 1
20-34021785-G-A c.1428C>T p.I476= Synonymous 2/2 - 1
20-34021785-G-T c.1428C>A p.I476= Synonymous 2/2 - 1
20-34021789-C-T c.1424G>A p.S475N Missense 2/2 - 9
20-34021795-G-A c.1418C>T p.P473L Missense 2/2 - 3
20-34021804-C-A c.1409G>T p.R470L Missense 2/2 - 2
20-34021804-C-T c.1409G>A p.R470Q Missense 2/2 - 2
20-34021806-C-A c.1407G>T p.T469= Synonymous 2/2 - 1
20-34021806-C-G c.1407G>C p.T469= Synonymous 2/2 - 1
20-34021806-CG-GT c.1406_1407delinsAC p.T469N Missense 2/2 - 1
20-34021806-C-T c.1407G>A p.T469= Synonymous 2/2 - 2
20-34021807-G-A c.1406C>T p.T469M Missense 2/2 - 2
20-34021807-G-C c.1406C>G p.T469R Missense 2/2 - 2
20-34021814-C-T c.1399G>A p.V467M Missense 2/2 - 1
20-34021816-C-T c.1397G>A p.C466Y Missense 2/2 - 2
20-34021817-A-G c.1396T>C p.C466R Missense 2/2 - 1
20-34021819-CA-GT c.1393_1394delinsAC p.C465T Missense 2/2 - 1
20-34021821-G-A c.1392C>T p.T464= Synonymous 2/2 - 2
20-34021821-G-C c.1392C>G p.T464= Synonymous 2/2 - 2
20-34021821-G-T c.1392C>A p.T464= Synonymous 2/2 - 2
20-34021828-G-A c.1385C>T p.P462L Missense 2/2 - 1
20-34021833-G-A c.1380C>T p.S460= Synonymous 2/2 - 1
20-34021833-G-C c.1380C>G p.S460= Synonymous 2/2 - 1
20-34021833-G-T c.1380C>A p.S460= Synonymous 2/2 - 1
20-34021836-C-T c.1377G>A p.E459= Synonymous 2/2 - 1
20-34021837-CTCG-C c.1374_1376del p.E459del InFrameDeletion 2/2 - 1
20-34021838-C-A c.1375G>T p.E459* Nonsense 2/2 - 2
20-34021839-G-A c.1374C>T p.P458= Synonymous 2/2 - 3
20-34021845-C-A c.1368G>T p.M456I Missense 2/2 - 1
20-34021845-C-G c.1368G>C p.M456I Missense 2/2 - 1
20-34021845-C-T c.1368G>A p.M456I Missense 2/2 - 1
20-34021853-T-C c.1360A>G p.N454D Missense 2/2 - 1
20-34021854-C-T c.1359G>A p.M453I Missense 2/2 - 1
20-34021855-A-T c.1358T>A p.M453K Missense 2/2 - 1
20-34021857-C-A c.1356G>T p.L452= Synonymous 2/2 - 1
20-34021857-C-G c.1356G>C p.L452= Synonymous 2/2 - 1
20-34021857-C-T c.1356G>A p.L452= Synonymous 2/2 - 1
20-34021859-G-A c.1354C>T p.L452= Synonymous 2/2 - 1
20-34021859-G-T c.1354C>A p.L452M Missense 2/2 - 2
20-34021861-G-A c.1352C>T p.T451I Missense 2/2 - 1
20-34021865-G-A c.1348C>T p.Q450* Nonsense 2/2 - 1
20-34021868-T-C c.1345A>G p.I449V Missense 2/2 - 1
20-34021874-C-T c.1339G>A p.A447T Missense 2/2 - 5
20-34021876-T-C c.1337A>G p.H446R Missense 2/2 - 1
20-34021877-G-A c.1336C>T p.H446Y Missense 2/2 - 5
20-34021878-A-C c.1335T>G p.N445K Missense 2/2 - 8
20-34021878-A-T c.1335T>A p.N445K Missense 2/2 - 5
20-34021879-T-G c.1334A>C p.N445T Missense 2/2 - 6
20-34021880-T-C c.1333A>G p.N445D Missense 2/2 - 1
20-34021881-C-A c.1332G>T p.T444= Synonymous 2/2 - 2
20-34021881-C-G c.1332G>C p.T444= Synonymous 2/2 - 2
20-34021881-CG-GT c.1331_1332delinsAC p.T444N Missense 2/2 - 1
20-34021881-C-T c.1332G>A p.T444= Synonymous 2/2 - 5
20-34021882-G-A c.1331C>T p.T444M Missense 2/2 - 2
20-34021884-G-T c.1329C>A p.P443= Synonymous 2/2 - 1
20-34021886-G-A c.1327C>T p.P443S Missense 2/2 - 1
20-34021889-C-T c.1324G>A p.E442K Missense 2/2 - 4
20-34021891-A-C c.1322T>G p.L441R Missense 2/2 - 1
20-34021891-A-G c.1322T>C p.L441P Missense 2/2 - 10
20-34021894-T-A c.1319A>T p.H440L Missense 2/2 - 4
20-34021898-A-T c.1315T>A p.S439T Missense 2/2 - 3
20-34021893-GTGGGAGCGCAA-G c.1309_1319del p.L437Pfs*40 Frameshift 2/2 - 1
20-34021899-GCG-CCA c.1312_1314delinsTGG p.R438W Missense 2/2 - 1
20-34021900-C-A c.1313G>T p.R438L Missense 2/2 - 20
20-34021900-CG-GC c.1312_1313delinsGC p.R438A Missense 2/2 - 1
20-34021900-C-T c.1313G>A p.R438H Missense 2/2 - 1
20-34021900-GC-G c.1313del p.R438Pfs*15 Frameshift 2/2 - 1
20-34021901-G-A c.1312C>T p.R438C Missense 2/2 - 10
20-34021902-C-T c.1311G>A p.L437= Synonymous 2/2 - 1
20-34021905-T-C c.1308A>G p.P436= Synonymous 2/2 - 2
20-34021907-G-T c.1306C>A p.P436T Missense 2/2 - 3
20-34021908-G-A c.1305C>T p.F435= Synonymous 2/2 - 3
20-34021913-C-T c.1300G>A p.E434K Missense 2/2 - 2
20-34021920-C-A c.1293G>T p.G431= Synonymous 2/2 - 2
20-34021920-C-G c.1293G>C p.G431= Synonymous 2/2 - 2
20-34021920-C-T c.1293G>A p.G431= Synonymous 2/2 - 3
20-34021921-C-G c.1292G>C p.G431A Missense 2/2 - 1
20-34021921-C-T c.1292G>A p.G431E Missense 2/2 - 4
20-34021922-C-A c.1291G>T p.G431W Missense 2/2 - 1
20-34021925-C-T c.1288G>A p.E430K Missense 2/2 - 2
20-34021936-G-T c.1277C>A p.A426D Missense 2/2 - 1
20-34021940-C-T c.1273G>A p.E425K Missense 2/2 - 2
20-34021941-G-A c.1272C>T p.Y424= Synonymous 2/2 - 1
20-34021946-C-T c.1267G>A p.E423K Missense 2/2 - 1
20-34021949-G-A c.1264C>T p.L422F Missense 2/2 - 1
20-34021952-G-A c.1261C>T p.P421S Missense 2/2 - 1
20-34021955-C-T c.1258G>A p.A420T Missense 2/2 - 1
20-34021960-A-G c.1253T>C p.I418T Missense 2/2 - 1
20-34021963-C-A c.1250G>T p.W417L Missense 2/2 - 1
20-34021963-C-G c.1250G>C p.W417S Missense 2/2 - 1
20-34021967-C-A c.1246G>T p.D416Y Missense 2/2 - 1
20-34021967-C-T c.1246G>A p.D416N Missense 2/2 - 2
20-34021968-G-A c.1245C>T p.D415= Synonymous 2/2 - 2
20-34021970-C-A c.1243G>T p.D415Y Missense 2/2 - 1
20-34021973-A-G c.1240T>C p.W414R Missense 2/2 - 4
20-34021973-A-T c.1240T>A p.W414R Missense 2/2 - 3
20-34021977-C-A c.1236G>T p.M412I Missense 2/2 - 1
20-34021977-C-G c.1236G>C p.M412I Missense 2/2 - 1
20-34021977-C-T c.1236G>A p.M412I Missense 2/2 - 1
20-34021979-T-C c.1234A>G p.M412V Missense 2/2 - 1
20-34021981-T-G c.1232A>C p.D411A Missense 2/2 - 1
20-34021982-C-T c.1231G>A p.D411N Missense 2/2 - 2
20-34021983-C-T c.1230G>A p.K410= Synonymous 2/2 - 2
20-34021997-G-T c.1216C>A p.H406N Missense 2/2 - 1
20-34021998-C-A c.1215G>T p.L405= Synonymous 2/2 - 1
20-34021998-C-G c.1215G>C p.L405= Synonymous 2/2 - 1
20-34021998-C-T c.1215G>A p.L405= Synonymous 2/2 - 1
20-34022000-G-A c.1213C>T p.L405= Synonymous 2/2 - 1
20-34022004-C-A c.1209G>T p.K403N Missense 2/2 - 2
20-34022007-C-T c.1206G>A p.R402= Synonymous 2/2 - 1
20-34022008-C-T c.1205G>A p.R402Q Missense 2/2 - 2
20-34022009-G-A c.1204C>T p.R402W Missense 2/2 - 3
20-34022014-CA-GT c.1198_1199delinsAC p.C400T Missense 2/2 - 1
20-34022014-C-T c.1199G>A p.C400Y Missense 2/2 - 9
20-34022017-C-A c.1196G>T p.R399L Missense 2/2 - 2
20-34022017-C-T c.1196G>A p.R399H Missense 2/2 - 1
20-34022018-G-A c.1195C>T p.R399C Missense 2/2 - 6
20-34022021-C-A c.1192G>T p.A398S Missense 2/2 - 1
20-34022027-G-A c.1186C>T p.L396F Missense 2/2 - 1
20-34022027-G-T c.1186C>A p.L396I Missense 2/2 - 1
20-34022031-C-T c.1182G>A p.K394= Synonymous 2/2 - 1
20-34022036-T-A c.1177A>T p.S393C Missense 2/2 - 1
20-34022038-G-A c.1175C>T p.P392L Missense 2/2 - 3
20-34022038-G-T c.1175C>A p.P392H Missense 2/2 - 2
20-34022039-G-A c.1174C>T p.P392S Missense 2/2 - 1
20-34022040-T-C c.1173A>G p.R391= Synonymous 2/2 - 3
20-34022041-C-T c.1172G>A p.R391Q Missense 2/2 - 2
20-34022042-G-A c.1171C>T p.R391* Nonsense 2/2 - 2
20-34022047-C-A c.1166G>T p.G389V Missense 2/2 - 1
20-34022047-C-T c.1166G>A p.G389D Missense 2/2 - 2
20-34022048-C-A c.1165G>T p.G389C Missense 2/2 - 1
20-34022048-C-T c.1165G>A p.G389S Missense 2/2 - 5
20-34022049-C-T c.1164G>A p.Q388= Synonymous 2/2 - 1
20-34022051-G-A c.1162C>T p.Q388* Nonsense 2/2 - 3
20-34022053-C-A c.1160G>T p.R387L Missense 2/2 - 5
20-34022053-C-T c.1160G>A p.R387H Missense 2/2 - 3
20-34022054-G-A c.1159C>T p.R387C Missense 2/2 - 6
20-34022055-A-T c.1158T>A p.T386= Synonymous 2/2 - 1
20-34022056-G-T c.1157C>A p.T386N Missense 2/2 - 1
20-34022057-T-G c.1156A>C p.T386P Missense 2/2 - 3
20-34022059-G-A c.1154C>T p.A385V Missense 2/2 - 1
20-34022065-G-A c.1148C>T p.P383L Missense 2/2 - 1
20-34022068-GC-G c.1144del p.A382Pfs*71 Frameshift 2/2 - 1
20-34022071-C-A c.1142G>T p.R381L Missense 2/2 - 1
20-34022071-C-T c.1142G>A p.R381Q Missense 2/2 - 6
20-34022072-G-A c.1141C>T p.R381W Missense 2/2 - 2
20-34022074-C-T c.1139G>A p.R380Q Missense 2/2 - 12
20-34022075-G-A c.1138C>T p.R380W Missense 2/2 - 5
20-34022077-T-A c.1136A>T p.K379I Missense 2/2 - 2
20-34022078-T-A c.1135A>T p.K379* Nonsense 2/2 - 1
20-34022079-TCG-CCA c.1132_1134delinsTGG p.R378W Missense 2/2 - 1
20-34022080-C-A c.1133G>T p.R378L Missense 2/2 - 1
20-34022080-C-T c.1133G>A p.R378Q Missense 2/2 - 12
20-34022081-G-A c.1132C>T p.R378* Nonsense 2/2 - 2
20-34022082-CCG-ACA c.1129_1131delinsTGT p.R377C Missense 2/2 - 1
20-34022083-C-T c.1130G>A p.R377Q Missense 2/2 - 1
20-34022084-G-A c.1129C>T p.R377W Missense 2/2 - 2
20-34022085-C-A c.1128G>T p.Q376H Missense 2/2 - 3
20-34022085-C-G c.1128G>C p.Q376H Missense 2/2 - 2
20-34022089-C-T c.1124G>A p.S375N Missense 2/2 - 1
20-34022095-A-C c.1118T>G p.L373R Missense 2/2 - 6
20-34022096-G-A c.1117C>T p.L373= Synonymous 2/2 - 2
20-34022100-C-T c.1113G>A p.E371= Synonymous 2/2 - 2
20-34022104-T-A c.1109A>T p.Y370F Missense 2/2 - 1
20-34022104-T-C c.1109A>G p.Y370C Missense 2/2 - 1
20-34022104-T-G c.1109A>C p.Y370S Missense 2/2 - 1
20-34022108-C-T c.1105G>A p.V369M Missense 2/2 - 2
20-34022109-G-A c.1104C>T p.T368= Synonymous 2/2 - 4
20-34022109-G-C c.1104C>G p.T368= Synonymous 2/2 - 2
20-34022109-G-T c.1104C>A p.T368= Synonymous 2/2 - 3
20-34022112-C-A c.1101G>T p.K367N Missense 2/2 - 2
20-34022112-C-G c.1101G>C p.K367N Missense 2/2 - 1
20-34022112-C-T c.1101G>A p.K367= Synonymous 2/2 - 3
20-34022117-C-T c.1096G>A p.D366N Missense 2/2 - 9
20-34022118-G-A c.1095C>T p.D365= Synonymous 2/2 - 1
20-34022119-T-A c.1094A>T p.D365V Missense 2/2 - 1
20-34022120-C-G c.1093G>C p.D365H Missense 2/2 - 1
20-34022125-C-T c.1088G>A p.G363D Missense 2/2 - 1
20-34022127-A-C c.1086T>G p.S362= Synonymous 2/2 - 1
20-34022127-A-G c.1086T>C p.S362= Synonymous 2/2 - 1
20-34022127-A-T c.1086T>A p.S362= Synonymous 2/2 - 1
20-34022128-G-C c.1085C>G p.S362C Missense 2/2 - 1
20-34022130-G-A c.1083C>T p.R361= Synonymous 2/2 - 1
20-34022130-G-C c.1083C>G p.R361= Synonymous 2/2 - 1
20-34022130-G-T c.1083C>A p.R361= Synonymous 2/2 - 1
20-34022131-C-A c.1082G>T p.R361L Missense 2/2 - 2
20-34022132-G-A c.1081C>T p.R361C Missense 2/2 - 2
20-34022136-C-A c.1077G>T p.K359N Missense 2/2 - 1
20-34022136-C-G c.1077G>C p.K359N Missense 2/2 - 1
20-34022137-T-C c.1076A>G p.K359R Missense 2/2 - 1
20-34022144-C-T c.1069G>A p.E357K Missense 2/2 - 3
20-34022145-A-C c.1068T>G p.N356K Missense 2/2 - 1
20-34022150-A-T c.1063T>A p.F355I Missense 2/2 - 2
20-34022151-G-C c.1062C>G p.F354L Missense 2/2 - 3
20-34022151-G-T c.1062C>A p.F354L Missense 2/2 - 4
20-34022153-A-G c.1060T>C p.F354L Missense 2/2 - 3
20-34022155-A-G c.1058T>C p.L353P Missense 2/2 - 1
20-34022155-A-T c.1058T>A p.L353Q Missense 2/2 - 1
20-34022156-G-C c.1057C>G p.L353V Missense 2/2 - 1
20-34022156-G-T c.1057C>A p.L353M Missense 2/2 - 1
20-34022157-G-A c.1056C>T p.D352= Synonymous 2/2 - 2
20-34022157-G-C c.1056C>G p.D352E Missense 2/2 - 1
20-34022157-G-T c.1056C>A p.D352E Missense 2/2 - 1
20-34022160-C-T c.1053G>A p.R351= Synonymous 2/2 - 2
20-34022161-C-G c.1052G>C p.R351P Missense 2/2 - 2
20-34022161-C-T c.1052G>A p.R351Q Missense 2/2 - 1
20-34022162-G-A c.1051C>T p.R351W Missense 2/2 - 3
20-34022167-T-C c.1046A>G p.K349R Missense 2/2 - 1
20-34022167-T-G c.1046A>C p.K349T Missense 2/2 - 1
20-34022173-C-A c.1040G>T p.R347L Missense 2/2 - 1
20-34022173-C-T c.1040G>A p.R347H Missense 2/2 - 4
20-34022174-G-A c.1039C>T p.R347C Missense 2/2 - 1
20-34022175-G-A c.1038C>T p.G346= Synonymous 2/2 - 1
20-34022175-G-C c.1038C>G p.G346= Synonymous 2/2 - 1
20-34022175-G-T c.1038C>A p.G346= Synonymous 2/2 - 1
20-34022184-C-A c.1029G>T p.L343= Synonymous 2/2 - 2
20-34022184-C-G c.1029G>C p.L343= Synonymous 2/2 - 2
20-34022184-C-T c.1029G>A p.L343= Synonymous 2/2 - 2
20-34022186-G-A c.1027C>T p.L343= Synonymous 2/2 - 2
20-34022194-G-A c.1019C>T p.A340V Missense 2/2 - 1
20-34022196-C-T c.1017G>A p.K339= Synonymous 2/2 - 11
20-34022198-T-G c.1015A>C p.K339Q Missense 2/2 - 1
20-34022199-C-A c.1014G>T p.E338D Missense 2/2 - 1
20-34022199-C-G c.1014G>C p.E338D Missense 2/2 - 1
20-34022201-C-T c.1012G>A p.E338K Missense 2/2 - 1
20-34022211-C-A c.1002G>T p.R334= Synonymous 2/2 - 2
20-34022211-CCGGGCGGCGCGGTCGAAG-C c.984_1001del p.F329_R334del InFrameDeletion 2/2 - 1
20-34022213-G-A c.1000C>T p.R334W Missense 2/2 - 2
20-34022213-G-C c.1000C>G p.R334G Missense 2/2 - 1
20-34022216-C-A c.997G>T p.A333S Missense 2/2 - 1
20-34022216-C-T c.997G>A p.A333T Missense 2/2 - 2
20-34022217-G-A c.996C>T p.A332= Synonymous 2/2 - 1
20-34022217-G-C c.996C>G p.A332= Synonymous 2/2 - 1
20-34022217-G-T c.996C>A p.A332= Synonymous 2/2 - 1
20-34022219-C-T c.994G>A p.A332T Missense 2/2 - 2
20-34022221-C-T c.992G>A p.R331H Missense 2/2 - 1
20-34022222-G-A c.991C>T p.R331C Missense 2/2 - 5
20-34022223-G-A c.990C>T p.D330= Synonymous 2/2 - 1
20-34022223-G-T c.990C>A p.D330E Missense 2/2 - 1
20-34022225-C-A c.988G>T p.D330Y Missense 2/2 - 2
20-34022225-C-G c.988G>C p.D330H Missense 2/2 - 1
20-34022226-G-A c.987C>T p.F329= Synonymous 2/2 - 3
20-34022228-A-C c.985T>G p.F329V Missense 2/2 - 1
20-34022229-GC-CT c.983_984delinsAG p.G328E Missense 2/2 - 2
20-34022236-C-T c.977G>A p.G326D Missense 2/2 - 1
20-34022238-A-C c.975T>G p.R325= Synonymous 2/2 - 1
20-34022238-A-G c.975T>C p.R325= Synonymous 2/2 - 1
20-34022238-A-T c.975T>A p.R325= Synonymous 2/2 - 2
20-34022239-CG-GC c.973_974delinsGC p.R325A Missense 2/2 - 1
20-34022239-C-T c.974G>A p.R325H Missense 2/2 - 4
20-34022240-G-A c.973C>T p.R325C Missense 2/2 - 4
20-34022241-G-A c.972C>T p.L324= Synonymous 2/2 - 1
20-34022245-T-C c.968A>G p.D323G Missense 2/2 - 2
20-34022246-C-T c.967G>A p.D323N Missense 2/2 - 1
20-34022249-C-A c.964G>T p.V322L Missense 2/2 - 1
20-34022249-C-G c.964G>C p.V322L Missense 2/2 - 1
20-34022253-C-T c.960G>A p.R320= Synonymous 2/2 - 1
20-34022255-T-G c.958A>C p.R320= Synonymous 2/2 - 1
20-34022254-C-A c.959G>T p.R320M Missense 2/2 - 1
20-34022258-C-T c.955G>A p.G319S Missense 2/2 - 1
20-34022259-C-G c.954G>C p.R318= Synonymous 2/2 - 1
20-34022259-C-T c.954G>A p.R318= Synonymous 2/2 - 1
20-34022260-C-G c.953G>C p.R318P Missense 2/2 - 3
20-34022260-C-T c.953G>A p.R318Q Missense 2/2 - 2
20-34022264-C-T c.949G>A p.E317K Missense 2/2 - 4
20-34022265-C-T c.948G>A p.W316* Nonsense 2/2 - 2
20-34022266-C-T c.947G>A p.W316* Nonsense 2/2 - 2
20-34022269-G-A c.944C>T p.A315V Missense 2/2 - 3
20-34022270-C-T c.943G>A p.A315T Missense 2/2 - 1
20-34022273-C-T c.940G>A p.E314K Missense 2/2 - 1
20-34022274-C-T c.939G>A p.L313= Synonymous 2/2 - 1
20-34022279-C-G c.934G>C p.E312Q Missense 2/2 - 1
20-34022279-C-T c.934G>A p.E312K Missense 2/2 - 1
20-34022281-A-G c.932T>C p.L311P Missense 2/2 - 1
20-34022283-G-A c.930C>T p.C310= Synonymous 2/2 - 1
20-34022288-G-T c.925C>A p.L309M Missense 2/2 - 1
20-34022291-G-A c.922C>T p.Q308* Nonsense 2/2 - 2
20-34022295-C-T c.918G>A p.S306= Synonymous 2/2 - 1
20-34022296-G-A c.917C>T p.S306L Missense 2/2 - 1
20-34022307-G-A c.906C>T p.N302= Synonymous 2/2 - 1
20-34022311-C-T c.902G>A p.R301Q Missense 2/2 - 6
20-34022312-G-A c.901C>T p.R301* Nonsense 2/2 - 2
20-34022314-A-T c.899T>A p.F300Y Missense 2/2 - 1
20-34022324-A-G c.889T>C p.W297R Missense 2/2 - 1
20-34022324-A-T c.889T>A p.W297R Missense 2/2 - 1
20-34022330-C-A c.883G>T p.D295Y Missense 2/2 - 1
20-34022330-C-T c.883G>A p.D295N Missense 2/2 - 2
20-34022338-T-C c.875A>G p.E292G Missense 2/2 - 1
20-34022340-C-A c.873G>T p.W291C Missense 2/2 - 1
20-34022340-C-T c.873G>A p.W291* Nonsense 2/2 - 2
20-34022341-C-T c.872G>A p.W291* Nonsense 2/2 - 2
20-34022343-G-A c.870C>T p.G290= Synonymous 2/2 - 1
20-34022344-C-A c.869G>T p.G290V Missense 2/2 - 1
20-34022345-C-G c.868G>C p.G290R Missense 2/2 - 1
20-34022347-G-A c.866C>T p.S289F Missense 2/2 - 1
20-34022350-C-T c.863G>A p.G288E Missense 2/2 - 4
20-34022351-C-G c.862G>C p.G288R Missense 2/2 - 2
20-34022351-C-T c.862G>A p.G288R Missense 2/2 - 3
20-34022352-G-A c.861C>T p.D287= Synonymous 2/2 - 1
20-34022355-C-G c.858G>C p.L286= Synonymous 2/2 - 1
20-34022363-G-T c.850C>A p.P284T Missense 2/2 - 1
20-34022366-C-T c.847G>A p.V283M Missense 2/2 - 6
20-34022369-A-T c.844T>A p.S282T Missense 2/2 - 1
20-34022371-C-A c.842G>T p.R281L Missense 2/2 - 1
20-34022371-C-T c.842G>A p.R281H Missense 2/2 - 1
20-34022372-G-A c.841C>T p.R281C Missense 2/2 - 2
20-34022378-C-T c.835G>A p.D279N Missense 2/2 - 6
20-34022383-AA-GG c.829_830delinsCC p.L277P Missense 2/2 - 1
20-34022382-CA-C c.830del p.L277Cfs*176 Frameshift 2/2 - 1
20-34022386-GGAGGCCGGCTGCCGGCCGCTGGGGC-G c.803_827del p.C268Sfs*177 Frameshift 2/2 - 2
20-34022388-G-A c.825C>T p.A275= Synonymous 2/2 - 1
20-34022388-G-T c.825C>A p.A275= Synonymous 2/2 - 1
20-34022391-C-A c.822G>T p.P274= Synonymous 2/2 - 1
20-34022391-C-G c.822G>C p.P274= Synonymous 2/2 - 1
20-34022391-C-T c.822G>A p.P274= Synonymous 2/2 - 1
20-34022392-G-A c.821C>T p.P274L Missense 2/2 - 1
20-34022394-C-A c.819G>T p.Q273H Missense 2/2 - 1
20-34022397-CCG-GAT c.814_816delinsATC p.R272I Missense 2/2 - 1
20-34022398-C-T c.815G>A p.R272Q Missense 2/2 - 3
20-34022399-G-A c.814C>T p.R272W Missense 2/2 - 5
20-34022402-C-T c.811G>A p.G271S Missense 2/2 - 1
20-34022404-C-T c.809G>A p.S270N Missense 2/2 - 1
20-34022410-C-A c.803G>T p.C268F Missense 2/2 - 1
20-34022420-G-T c.793C>A p.L265M Missense 2/2 - 1
20-34022425-A-G c.788T>C p.L263P Missense 2/2 - 1
20-34022426-G-A c.787C>T p.L263= Synonymous 2/2 - 1
20-34022426-G-C c.787C>G p.L263V Missense 2/2 - 1
20-34022437-CG-TA c.775_776delinsTA p.R259* Nonsense 2/2 - 1
20-34022437-C-T c.776G>A p.R259Q Missense 2/2 - 2
20-34022439-C-A c.774G>T p.G258= Synonymous 2/2 - 1
20-34022439-C-G c.774G>C p.G258= Synonymous 2/2 - 1
20-34022439-C-T c.774G>A p.G258= Synonymous 2/2 - 1
20-34022442-G-A c.771C>T p.G257= Synonymous 2/2 - 1
20-34022444-C-A c.769G>T p.G257C Missense 2/2 - 1
20-34022446-C-T c.767G>A p.G256E Missense 2/2 - 2
20-34022447-C-G c.766G>C p.G256R Missense 2/2 - 1
20-34022447-C-T c.766G>A p.G256R Missense 2/2 - 2
20-34022449-G-T c.764C>A p.P255H Missense 2/2 - 1
20-34022452-G-T c.761C>A p.A254D Missense 2/2 - 1
20-34022452-GC-G c.760del p.A254Pfs*10 Frameshift 2/2 - 1
20-34022454-C-A c.759G>T p.A253= Synonymous 2/2 - 1
20-34022454-C-G c.759G>C p.A253= Synonymous 2/2 - 1
20-34022454-C-T c.759G>A p.A253= Synonymous 2/2 - 3
20-34022455-G-A c.758C>T p.A253V Missense 2/2 - 1
20-34022456-C-T c.757G>A p.A253T Missense 2/2 - 1
20-34022460-C-T c.753G>A p.K251= Synonymous 2/2 - 2
20-34022463-G-A c.750C>T p.A250= Synonymous 2/2 - 1
20-34022467-G-A c.746C>T p.T249M Missense 2/2 - 3
20-34022471-C-T c.742G>A p.D248N Missense 2/2 - 1
20-34022472-C-A c.741G>T p.S247= Synonymous 2/2 - 1
20-34022472-C-G c.741G>C p.S247= Synonymous 2/2 - 1
20-34022472-C-T c.741G>A p.S247= Synonymous 2/2 - 1
20-34022473-G-A c.740C>T p.S247L Missense 2/2 - 4
20-34022475-G-A c.738C>T p.P246= Synonymous 2/2 - 1
20-34022476-G-A c.737C>T p.P246L Missense 2/2 - 2
20-34022481-C-T c.732G>A p.K244= Synonymous 2/2 - 1
20-34022482-T-A c.731A>T p.K244M Missense 2/2 - 1
20-34022485-CG-TA c.727_728delinsTA p.R243* Nonsense 2/2 - 1
20-34022485-C-T c.728G>A p.R243Q Missense 2/2 - 8
20-34022486-G-A c.727C>T p.R243W Missense 2/2 - 2
20-34022488-AA-CT c.724_725delinsAG p.L242R Missense 2/2 - 1
20-34022494-CG-TA c.718_719delinsTA p.R240* Nonsense 2/2 - 1
20-34022494-C-T c.719G>A p.R240Q Missense 2/2 - 6
20-34022496-C-T c.717G>A p.L239= Synonymous 2/2 - 1
20-34022500-T-A c.713A>T p.E238V Missense 2/2 - 2
20-34022501-C-T c.712G>A p.E238K Missense 2/2 - 6
20-34022502-G-A c.711C>T p.A237= Synonymous 2/2 - 1
20-34022502-G-C c.711C>G p.A237= Synonymous 2/2 - 1
20-34022502-G-T c.711C>A p.A237= Synonymous 2/2 - 1
20-34022510-G-C c.703C>G p.L235V Missense 2/2 - 1
20-34022511-C-A c.702G>T p.L234= Synonymous 2/2 - 2
20-34022511-C-G c.702G>C p.L234= Synonymous 2/2 - 2
20-34022511-C-T c.702G>A p.L234= Synonymous 2/2 - 2
20-34022513-G-A c.700C>T p.L234= Synonymous 2/2 - 2
20-34022512-A-T c.701T>A p.L234Q Missense 2/2 - 1
20-34022514-C-T c.699G>A p.G233= Synonymous 2/2 - 1
20-34022520-C-T c.693G>A p.K231= Synonymous 2/2 - 1
20-34022523-C-T c.690G>A p.E230= Synonymous 2/2 - 1
20-34022525-C-T c.688G>A p.E230K Missense 2/2 - 1
20-34022528-G-A c.685C>T p.L229= Synonymous 2/2 - 1
20-34022539-T-G c.674A>C p.D225A Missense 2/2 - 1
20-34022546-C-T c.667G>A p.V223M Missense 2/2 - 2
20-34022547-G-T c.666C>A p.Y222* Nonsense 2/2 - 1
20-34022548-T-C c.665A>G p.Y222C Missense 2/2 - 2
20-34022552-T-A c.661A>T p.R221W Missense 2/2 - 1
20-34022553-C-A c.660G>T p.Q220H Missense 2/2 - 2
20-34022553-C-G c.660G>C p.Q220H Missense 2/2 - 2
20-34022555-G-C c.658C>G p.Q220E Missense 2/2 - 4
20-34022556-C-T c.657G>A p.K219= Synonymous 2/2 - 1
20-34022559-CCT-ACA c.652_654delinsTGT p.R218C Missense 2/2 - 1
20-34022559-CCT-ATG c.652_654delinsCAT p.R218H Missense 2/2 - 1
20-34022559-C-T c.654G>A p.R218= Synonymous 2/2 - 1
20-34022560-C-A c.653G>T p.R218M Missense 2/2 - 1
20-34022561-T-A c.652A>T p.R218W Missense 2/2 - 1
20-34022562-G-A c.651C>T p.V217= Synonymous 2/2 - 1
20-34022565-C-A c.648G>T p.V216= Synonymous 2/2 - 1
20-34022565-C-G c.648G>C p.V216= Synonymous 2/2 - 1
20-34022565-C-T c.648G>A p.V216= Synonymous 2/2 - 1
20-34022567-C-T c.646G>A p.V216M Missense 2/2 - 1
20-34022569-G-A c.644C>T p.P215L Missense 2/2 - 1
20-34022569-G-C c.644C>G p.P215R Missense 2/2 - 1
20-34022570-G-A c.643C>T p.P215S Missense 2/2 - 1
20-34022572-C-T c.641G>A p.G214D Missense 2/2 - 1
20-34022575-C-T c.638G>A p.R213Q Missense 2/2 - 5
20-34022576-G-A c.637C>T p.R213* Nonsense 2/2 - 2
20-34022581-T-A c.632A>T p.D211V Missense 2/2 - 4
20-34023962-G-A c.631+1116C>T - IntronicSNV - 1/1 16
20-34025063-A-C c.631+15T>G - IntronicSNV - 1/1 1
20-34025079-T-A c.630A>T p.Q210H Missense 1/2 - 1
20-34025079-T-G c.630A>C p.Q210H Missense 1/2 - 1
20-34025082-C-A c.627G>T p.G209= Synonymous 1/2 - 1
20-34025082-C-G c.627G>C p.G209= Synonymous 1/2 - 1
20-34025082-C-T c.627G>A p.G209= Synonymous 1/2 - 1
20-34025084-C-G c.625G>C p.G209R Missense 1/2 - 1
20-34025084-C-T c.625G>A p.G209R Missense 1/2 - 3
20-34025085-T-A c.624A>T p.K208N Missense 1/2 - 2
20-34025085-T-G c.624A>C p.K208N Missense 1/2 - 2
20-34025087-T-C c.622A>G p.K208E Missense 1/2 - 1
20-34025087-T-G c.622A>C p.K208Q Missense 1/2 - 2
20-34025097-G-C c.612C>G p.S204R Missense 1/2 - 1
20-34025097-G-T c.612C>A p.S204R Missense 1/2 - 2
20-34025099-T-G c.610A>C p.S204R Missense 1/2 - 1
20-34025098-C-T c.611G>A p.S204N Missense 1/2 - 1
20-34025101-G-T c.608C>A p.T203N Missense 1/2 - 1
20-34025104-A-G c.605T>C p.I202T Missense 1/2 - 2
20-34025108-T-C c.601A>G p.T201A Missense 1/2 - 1
20-34025108-T-G c.601A>C p.T201P Missense 1/2 - 1
20-34025113-G-A c.596C>T p.A199V Missense 1/2 - 1
20-34025129-A-G c.580T>C p.L194= Synonymous 1/2 - 2
20-34025133-C-T c.576G>A p.V192= Synonymous 1/2 - 2
20-34025135-C-T c.574G>A p.V192M Missense 1/2 - 1
20-34025141-T-C c.568A>G p.S190G Missense 1/2 - 1
20-34025145-G-A c.564C>T p.G188= Synonymous 1/2 - 1
20-34025146-C-A c.563G>T p.G188V Missense 1/2 - 1
20-34025146-C-T c.563G>A p.G188D Missense 1/2 - 1
20-34025147-C-G c.562G>C p.G188R Missense 1/2 - 1
20-34025148-T-C c.561A>G p.G187= Synonymous 1/2 - 1
20-34025151-C-T c.558G>A p.K186= Synonymous 1/2 - 4
20-34025153-T-C c.556A>G p.K186E Missense 1/2 - 1
20-34025155-C-G c.554G>C p.R185T Missense 1/2 - 1
20-34025155-C-T c.554G>A p.R185K Missense 1/2 - 3
20-34025165-C-T c.544G>A p.D182N Missense 1/2 - 1
20-34025170-A-G c.539T>C p.L180P Missense 1/2 - 1
20-34025172-C-A c.537G>T p.T179= Synonymous 1/2 - 1
20-34025172-C-G c.537G>C p.T179= Synonymous 1/2 - 1
20-34025172-C-T c.537G>A p.T179= Synonymous 1/2 - 1
20-34025173-G-A c.536C>T p.T179M Missense 1/2 - 5
20-34025174-T-A c.535A>T p.T179S Missense 1/2 - 1
20-34025175-C-A c.534G>T p.R178S Missense 1/2 - 1
20-34025175-C-G c.534G>C p.R178S Missense 1/2 - 1
20-34025175-C-T c.534G>A p.R178= Synonymous 1/2 - 1
20-34025177-T-G c.532A>C p.R178= Synonymous 1/2 - 1
20-34025177-T-C c.532A>G p.R178G Missense 1/2 - 1
20-34025178-G-C c.531C>G p.Y177* Nonsense 1/2 - 1
20-34025182-A-G c.527T>C p.L176P Missense 1/2 - 1
20-34025183-G-A c.526C>T p.L176= Synonymous 1/2 - 3
20-34025184-C-A c.525G>T p.S175= Synonymous 1/2 - 2
20-34025184-C-G c.525G>C p.S175= Synonymous 1/2 - 2
20-34025184-C-T c.525G>A p.S175= Synonymous 1/2 - 2
20-34025185-G-A c.524C>T p.S175L Missense 1/2 - 2
20-34025186-A-G c.523T>C p.S175P Missense 1/2 - 2
20-34025189-G-A c.520C>T p.L174F Missense 1/2 - 2
20-34025189-G-C c.520C>G p.L174V Missense 1/2 - 1
20-34025190-C-T c.519G>A p.M173I Missense 1/2 - 1
20-34025191-A-G c.518T>C p.M173T Missense 1/2 - 1
20-34025192-T-A c.517A>T p.M173L Missense 1/2 - 1
20-34025192-T-C c.517A>G p.M173V Missense 1/2 - 6
20-34025192-T-G c.517A>C p.M173L Missense 1/2 - 2
20-34025192-TGTACTC-T c.511_516del p.E171_Y172del InFrameDeletion 1/2 - 1
20-34025198-C-G c.511G>C p.E171Q Missense 1/2 - 1
20-34025198-C-T c.511G>A p.E171K Missense 1/2 - 1
20-34025199-G-A c.510C>T p.H170= Synonymous 1/2 - 1
20-34025201-G-A c.508C>T p.H170Y Missense 1/2 - 2
20-34025201-G-C c.508C>G p.H170D Missense 1/2 - 1
20-34025204-G-A c.505C>T p.P169S Missense 1/2 - 1
20-34025208-G-A c.501C>T p.I167= Synonymous 1/2 - 1
20-34025208-G-T c.501C>A p.I167= Synonymous 1/2 - 1
20-34025211-G-A c.498C>T p.P166= Synonymous 1/2 - 1
20-34025212-G-A c.497C>T p.P166L Missense 1/2 - 1
20-34025212-G-T c.497C>A p.P166H Missense 1/2 - 2
20-34025215-G-A c.494C>T p.P165L Missense 1/2 - 1
20-34025210-TG-T c.498del p.I167Sfs*26 Frameshift 1/2 - 1
20-34025210-T-TG c.498dup p.I167Hfs*18 Frameshift 1/2 - 2
20-34025216-G-A c.493C>T p.P165S Missense 1/2 - 1
20-34025219-G-A c.490C>T p.P164S Missense 1/2 - 1
20-34025219-G-T c.490C>A p.P164T Missense 1/2 - 1
20-34025221-C-T c.488G>A p.R163H Missense 1/2 - 1
20-34025222-G-A c.487C>T p.R163C Missense 1/2 - 8
20-34025222-G-C c.487C>G p.R163G Missense 1/2 - 2
20-34025226-C-T c.483G>A p.P161= Synonymous 1/2 - 1
20-34025227-G-A c.482C>T p.P161L Missense 1/2 - 1
20-34025227-G-T c.482C>A p.P161Q Missense 1/2 - 1
20-34025231-C-T c.478G>A p.E160K Missense 1/2 - 3
20-34025240-C-T c.469G>A p.E157K Missense 1/2 - 1
20-34025242-C-T c.467G>A p.R156Q Missense 1/2 - 1
20-34025243-G-A c.466C>T p.R156* Nonsense 1/2 - 1
20-34025245-G-A c.464C>T p.P155L Missense 1/2 - 1
20-34025247-G-T c.462C>A p.P154= Synonymous 1/2 - 1
20-34025248-G-A c.461C>T p.P154L Missense 1/2 - 2
20-34025252-C-T c.457G>A p.G153R Missense 1/2 - 4
20-34025253-G-A c.456C>T p.P152= Synonymous 1/2 - 1
20-34025254-G-A c.455C>T p.P152L Missense 1/2 - 2
20-34025256-C-A c.453G>T p.E151D Missense 1/2 - 1
20-34025256-C-G c.453G>C p.E151D Missense 1/2 - 1
20-34025256-C-T c.453G>A p.E151= Synonymous 1/2 - 1
20-34025258-C-T c.451G>A p.E151K Missense 1/2 - 2
20-34025259-C-T c.450G>A p.R150= Synonymous 1/2 - 1
20-34025266-T-C c.443A>G p.K148R Missense 1/2 - 1
20-34025269-TT-GC c.439_440delinsGC p.K147A Missense 1/2 - 1
20-34025275-CAG-C c.433_434del p.L145Afs*39 Frameshift 1/2 - 1
20-34025277-G-A c.432C>T p.F144= Synonymous 1/2 - 4
20-34025280-G-A c.429C>T p.S143= Synonymous 1/2 - 1
20-34025280-G-C c.429C>G p.S143= Synonymous 1/2 - 1
20-34025280-G-T c.429C>A p.S143= Synonymous 1/2 - 1
20-34025281-G-A c.428C>T p.S143F Missense 1/2 - 5
20-34025282-A-C c.427T>G p.S143A Missense 1/2 - 1
20-34025287-G-A c.422C>T p.P141L Missense 1/2 - 1
20-34025288-G-A c.421C>T p.P141S Missense 1/2 - 8
20-34025288-G-T c.421C>A p.P141T Missense 1/2 - 1
20-34025289-G-A c.420C>T p.V140= Synonymous 1/2 - 1
20-34025293-G-A c.416C>T p.S139F Missense 1/2 - 5
20-34025294-A-G c.415T>C p.S139P Missense 1/2 - 1
20-34025296-C-A c.413G>T p.G138V Missense 1/2 - 1
20-34025301-T-G c.408A>C p.K136N Missense 1/2 - 1
20-34025302-T-A c.407A>T p.K136I Missense 1/2 - 1
20-34025306-G-A c.403C>T p.P135S Missense 1/2 - 1
20-34025307-G-A c.402C>T p.P134= Synonymous 1/2 - 1
20-34025308-G-A c.401C>T p.P134L Missense 1/2 - 3
20-34025304-TG-T c.404del p.P135Qfs*12 Frameshift 1/2 - 1
20-34025311-G-A c.398C>T p.A133V Missense 1/2 - 1
20-34025312-C-G c.397G>C p.A133P Missense 1/2 - 1
20-34025317-C-T c.392G>A p.G131D Missense 1/2 - 1
20-34025321-C-T c.388G>A p.G130R Missense 1/2 - 5
20-34025324-G-A c.385C>T p.P129S Missense 1/2 - 6
20-34025325-A-T c.384T>A p.L128= Synonymous 1/2 - 1
20-34025333-C-T c.376G>A p.G126R Missense 1/2 - 2
20-34025337-T-C c.372A>G p.P124= Synonymous 1/2 - 1
20-34025339-G-A c.370C>T p.P124S Missense 1/2 - 1
20-34025347-G-A c.362C>T p.T121I Missense 1/2 - 1
20-34025350-C-A c.359G>T p.R120L Missense 1/2 - 1
20-34025350-CG-TT c.358_359delinsAA p.R120K Missense 1/2 - 1
20-34025350-C-T c.359G>A p.R120Q Missense 1/2 - 3
20-34025349-C-A c.360G>T p.R120= Synonymous 1/2 - 3
20-34025349-C-G c.360G>C p.R120= Synonymous 1/2 - 2
20-34025349-C-T c.360G>A p.R120= Synonymous 1/2 - 2
20-34025351-G-A c.358C>T p.R120W Missense 1/2 - 1
20-34025351-G-T c.358C>A p.R120= Synonymous 1/2 - 2
20-34025353-G-A c.356C>T p.A119V Missense 1/2 - 2
20-34025360-C-A c.349G>T p.A117S Missense 1/2 - 2
20-34025360-C-T c.349G>A p.A117T Missense 1/2 - 1
20-34025359-GC-G c.349del p.A117Lfs*6 Frameshift 1/2 - 1
20-34025362-T-C c.347A>G p.Q116R Missense 1/2 - 1
20-34025363-G-C c.346C>G p.Q116E Missense 1/2 - 1
20-34025363-G-T c.346C>A p.Q116K Missense 1/2 - 2
20-34025364-C-T c.345G>A p.R115= Synonymous 1/2 - 1
20-34025366-T-G c.343A>C p.R115= Synonymous 1/2 - 1
20-34025366-T-A c.343A>T p.R115W Missense 1/2 - 1
20-34025367-T-A c.342A>T p.T114= Synonymous 1/2 - 1
20-34025367-T-C c.342A>G p.T114= Synonymous 1/2 - 1
20-34025367-T-G c.342A>C p.T114= Synonymous 1/2 - 1
20-34025372-G-A c.337C>T p.Q113* Nonsense 1/2 - 1
20-34025374-G-A c.335C>T p.P112L Missense 1/2 - 1
20-34025374-G-T c.335C>A p.P112H Missense 1/2 - 1
20-34025375-G-C c.334C>G p.P112A Missense 1/2 - 1
20-34025380-T-G c.329A>C p.H110P Missense 1/2 - 1
20-34025381-G-A c.328C>T p.H110Y Missense 1/2 - 1
20-34025381-G-T c.328C>A p.H110N Missense 1/2 - 1
20-34025382-T-A c.327A>T p.G109= Synonymous 1/2 - 1
20-34025382-T-C c.327A>G p.G109= Synonymous 1/2 - 1
20-34025382-T-G c.327A>C p.G109= Synonymous 1/2 - 1
20-34025383-C-T c.326G>A p.G109E Missense 1/2 - 1
20-34025384-C-T c.325G>A p.G109R Missense 1/2 - 2
20-34025387-G-T c.322C>A p.P108T Missense 1/2 - 3
20-34025389-T-G c.320A>C p.K107T Missense 1/2 - 1
20-34025392-G-C c.317C>G p.P106R Missense 1/2 - 1
20-34025394-T-A c.315A>T p.E105D Missense 1/2 - 1
20-34025394-T-G c.315A>C p.E105D Missense 1/2 - 1
20-34025396-C-T c.313G>A p.E105K Missense 1/2 - 2
20-34025396-C-CA c.312dup p.E105* Nonsense 1/2 - 1
20-34025399-G-A c.310C>T p.P104S Missense 1/2 - 4
20-34025401-C-A c.308G>T p.G103V Missense 1/2 - 1
20-34025402-C-T c.307G>A p.G103S Missense 1/2 - 5
20-34025404-CC-AG c.304_305delinsCT p.G102L Missense 1/2 - 1
20-34025407-G-A c.302C>T p.P101L Missense 1/2 - 2
20-34025409-TCT-CCA c.298_300delinsTGG p.R100W Missense 1/2 - 1
20-34025410-C-CG c.298_299insC p.R100Tfs*6 Frameshift 1/2 - 1
20-34025410-C-CT c.298dup p.R100Kfs*6 Frameshift 1/2 - 1
20-34025412-G-T c.297C>A p.P99= Synonymous 1/2 - 1
20-34025411-T-TG c.297dup p.R100Qfs*6 Frameshift 1/2 - 6
20-34025417-G-A c.292C>T p.P98S Missense 1/2 - 1
20-34025418-C-A c.291G>T p.L97= Synonymous 1/2 - 2
20-34025418-C-G c.291G>C p.L97= Synonymous 1/2 - 2
20-34025418-C-T c.291G>A p.L97= Synonymous 1/2 - 2
20-34025420-G-A c.289C>T p.L97= Synonymous 1/2 - 3
20-34025427-G-A c.282C>T p.P94= Synonymous 1/2 - 3
20-34025427-G-C c.282C>G p.P94= Synonymous 1/2 - 3
20-34025427-G-T c.282C>A p.P94= Synonymous 1/2 - 4
20-34025432-C-T c.277G>A p.E93K Missense 1/2 - 2
20-34025437-T-G c.272A>C p.K91T Missense 1/2 - 1
20-34025439-C-T c.270G>A p.K90= Synonymous 1/2 - 1
20-34025447-G-C c.262C>G p.Q88E Missense 1/2 - 1
20-34025451-C-A c.258G>T p.L86= Synonymous 1/2 - 1
20-34025451-C-G c.258G>C p.L86= Synonymous 1/2 - 1
20-34025451-C-T c.258G>A p.L86= Synonymous 1/2 - 2
20-34025453-G-A c.256C>T p.L86= Synonymous 1/2 - 1
20-34025456-C-T c.253G>A p.G85S Missense 1/2 - 1
20-34025459-C-A c.250G>T p.G84* Nonsense 1/2 - 1
20-34025459-C-T c.250G>A p.G84R Missense 1/2 - 1
20-34025461-G-A c.248C>T p.T83I Missense 1/2 - 1
20-34025462-T-C c.247A>G p.T83A Missense 1/2 - 1
20-34025463-C-T c.246G>A p.Q82= Synonymous 1/2 - 1
20-34025465-TG-T c.244del p.Q82Rfs*5 Frameshift 1/2 - 1
20-34025469-G-A c.240C>T p.T80= Synonymous 1/2 - 2
20-34025470-G-A c.239C>T p.T80I Missense 1/2 - 2
20-34025473-C-G c.236G>C p.G79A Missense 1/2 - 1
20-34025474-C-T c.235G>A p.G79S Missense 1/2 - 1
20-34025475-TC-T c.233del p.G78Efs*9 Frameshift 1/2 - 1
20-34025478-C-A c.231G>T p.K77N Missense 1/2 - 1
20-34025478-C-G c.231G>C p.K77N Missense 1/2 - 1
20-34025482-G-A c.227C>T p.A76V Missense 1/2 - 1
20-34025483-C-T c.226G>A p.A76T Missense 1/2 - 1
20-34025484-C-T c.225G>A p.R75= Synonymous 1/2 - 1
20-34025486-T-G c.223A>C p.R75= Synonymous 1/2 - 1
20-34025485-C-T c.224G>A p.R75K Missense 1/2 - 1
20-34025487-G-A c.222C>T p.A74= Synonymous 1/2 - 3
20-34025488-G-C c.221C>G p.A74G Missense 1/2 - 1
20-34025488-G-T c.221C>A p.A74D Missense 1/2 - 1
20-34025490-A-G c.219T>C p.N73= Synonymous 1/2 - 1
20-34025493-G-A c.216C>T p.A72= Synonymous 1/2 - 1
20-34025493-G-C c.216C>G p.A72= Synonymous 1/2 - 1
20-34025493-G-T c.216C>A p.A72= Synonymous 1/2 - 1
20-34025499-G-A c.210C>T p.T70= Synonymous 1/2 - 1
20-34025502-G-GC c.206_207insG p.T70Hfs*24 Frameshift 1/2 - 2
20-34025504-C-G c.205G>C p.A69P Missense 1/2 - 1
20-34025505-C-A c.204G>T p.G68= Synonymous 1/2 - 2
20-34025505-C-CG c.203_204insC p.A69Gfs*25 Frameshift 1/2 - 1
20-34025505-C-G c.204G>C p.G68= Synonymous 1/2 - 4
20-34025505-C-T c.204G>A p.G68= Synonymous 1/2 - 3
20-34025507-C-T c.202G>A p.G68R Missense 1/2 - 2
20-34025508-C-T c.201G>A p.G67= Synonymous 1/2 - 1
20-34025509-C-A c.200G>T p.G67V Missense 1/2 - 1
20-34025503-GC-G c.205del p.A69Pfs*18 Frameshift 1/2 - 4
20-34025503-G-GC c.205dup p.A69Gfs*25 Frameshift 1/2 - 3
20-34025510-C-T c.199G>A p.G67R Missense 1/2 - 1
20-34025512-CC-TT c.196_197delinsAA p.G66N Missense 1/2 - 1
20-34025512-C-T c.197G>A p.G66D Missense 1/2 - 1
20-34025513-C-T c.196G>A p.G66S Missense 1/2 - 1
20-34025518-C-T c.191G>A p.S64N Missense 1/2 - 2
20-34025518-CT-AA c.190_191delinsTT p.S64F Missense 1/2 - 1
20-34025518-GC-G c.191del p.S64Tfs*23 Frameshift 1/2 - 1
20-34025523-GAC-G c.185_186del p.G62Afs*31 Frameshift 1/2 - 1
20-34025524-C-A c.185G>T p.G62V Missense 1/2 - 1
20-34025525-C-CTATATCA c.183_184insTGATATA p.G62* Nonsense 1/2 - 1
20-34025527-C-T c.182G>A p.G61E Missense 1/2 - 2
20-34025528-C-T c.181G>A p.G61R Missense 1/2 - 1
20-34025529-T-A c.180A>T p.P60= Synonymous 1/2 - 1
20-34025529-T-C c.180A>G p.P60= Synonymous 1/2 - 1
20-34025529-T-G c.180A>C p.P60= Synonymous 1/2 - 1
20-34025531-G-A c.178C>T p.P60S Missense 1/2 - 1
20-34025531-G-C c.178C>G p.P60A Missense 1/2 - 1
20-34025534-T-C c.175A>G p.R59G Missense 1/2 - 2
20-34025536-A-G c.173T>C p.F58S Missense 1/2 - 2
20-34025538-AG-A c.171del p.F58Sfs*29 Frameshift 1/2 - 1
20-34025541-G-A c.168C>T p.N56= Synonymous 1/2 - 1
20-34025541-G-T c.168C>A p.N56K Missense 1/2 - 1
20-34025542-T-TC c.166_167insG p.N56Rfs*38 Frameshift 1/2 - 1
20-34025544-C-T c.165G>A p.R55= Synonymous 1/2 - 1
20-34025546-G-A c.163C>T p.R55W Missense 1/2 - 5
20-34025546-G-T c.163C>A p.R55= Synonymous 1/2 - 1
20-34025547-G-A c.162C>T p.A54= Synonymous 1/2 - 1
20-34025548-G-T c.161C>A p.A54D Missense 1/2 - 1
20-34025550-CAG-GTC c.157_159delinsGAC p.L53D Missense 1/2 - 1
20-34025550-C-CG c.158_159insC p.A54Gfs*40 Frameshift 1/2 - 1
20-34025551-A-T c.158T>A p.L53Q Missense 1/2 - 1
20-34025551-CA-C c.158del p.L53Rfs*34 Frameshift 1/2 - 1
20-34025553-G-A c.156C>T p.P52= Synonymous 1/2 - 1
20-34025554-G-T c.155C>A p.P52H Missense 1/2 - 1
20-34025557-G-A c.152C>T p.P51L Missense 1/2 - 1
20-34025551-A-AG c.157dup p.L53Pfs*41 Frameshift 1/2 - 3
20-34025551-AG-A c.157del p.L53Wfs*34 Frameshift 1/2 - 6
20-34025558-G-A c.151C>T p.P51S Missense 1/2 - 1
20-34025559-C-A c.150G>T p.R50S Missense 1/2 - 3
20-34025559-C-G c.150G>C p.R50S Missense 1/2 - 4
20-34025560-C-T c.149G>A p.R50K Missense 1/2 - 2
20-34025563-T-G c.146A>C p.E49A Missense 1/2 - 1
20-34025564-C-T c.145G>A p.E49K Missense 1/2 - 2
20-34025569-G-A c.140C>T p.A47V Missense 1/2 - 1
20-34025570-C-T c.139G>A p.A47T Missense 1/2 - 1
20-34025571-C-T c.138G>A p.E46= Synonymous 1/2 - 1
20-34025573-C-T c.136G>A p.E46K Missense 1/2 - 1
20-34025575-G-A c.134C>T p.A45V Missense 1/2 - 1
20-34025577-T-C c.132A>G p.K44= Synonymous 1/2 - 1
20-34025578-T-G c.131A>C p.K44T Missense 1/2 - 1
20-34025581-G-A c.128C>T p.A43V Missense 1/2 - 1
20-34025586-TC-T c.122del p.G41Dfs*46 Frameshift 1/2 - 2
20-34025589-T-A c.120A>T p.P40= Synonymous 1/2 - 1
20-34025589-T-C c.120A>G p.P40= Synonymous 1/2 - 1
20-34025589-T-G c.120A>C p.P40= Synonymous 1/2 - 1
20-34025592-CCT-ACA c.115_117delinsTGT p.R39C Missense 1/2 - 1
20-34025593-CT-TG c.115_116delinsCA p.R39Q Missense 1/2 - 1
20-34025595-GG-CA c.113_114delinsTG p.T38M Missense 1/2 - 1
20-34025598-C-A c.111G>T p.G37= Synonymous 1/2 - 1
20-34025598-CCC-GCT c.109_111delinsAGC p.G37S Missense 1/2 - 1
20-34025598-C-G c.111G>C p.G37= Synonymous 1/2 - 1
20-34025598-C-T c.111G>A p.G37= Synonymous 1/2 - 1
20-34025600-C-T c.109G>A p.G37R Missense 1/2 - 1
20-34025605-G-C c.104C>G p.P35R Missense 1/2 - 1
20-34025605-GG-CC c.103_104inv p.P35G Missense 1/2 - 1
20-34025606-G-A c.103C>T p.P35S Missense 1/2 - 3
20-34025606-G-T c.103C>A p.P35T Missense 1/2 - 1
20-34025608-C-T c.101G>A p.R34K Missense 1/2 - 1
20-34025610-C-T c.99G>A p.Q33= Synonymous 1/2 - 2
20-34025612-G-A c.97C>T p.Q33* Nonsense 1/2 - 2
20-34025615-C-T c.94G>A p.G32S Missense 1/2 - 1
20-34025627-C-A c.82G>T p.A28S Missense 1/2 - 1
20-34025627-C-T c.82G>A p.A28T Missense 1/2 - 1
20-34025630-C-G c.79G>C p.G27R Missense 1/2 - 1
20-34025641-CA-GT c.67_68delinsAC p.C23T Missense 1/2 - 1
20-34025642-A-G c.67T>C p.C23R Missense 1/2 - 1
20-34025643-G-C c.66C>G p.I22M Missense 1/2 - 2
20-34025649-T-A c.60A>T p.E20D Missense 1/2 - 3
20-34025649-T-G c.60A>C p.E20D Missense 1/2 - 3
20-34025650-TC-AG c.58_59delinsCT p.E20L Missense 1/2 - 1
20-34025650-TC-GA c.58_59inv p.E20S Missense 1/2 - 1
20-34025664-A-C c.45T>G p.A15= Synonymous 1/2 - 1
20-34025664-A-G c.45T>C p.A15= Synonymous 1/2 - 1
20-34025664-AGC-CCA c.43_45delinsTGG p.A15W Missense 1/2 - 1
20-34025664-AG-CT c.44_45inv p.A15E Missense 1/2 - 1
20-34025664-A-T c.45T>A p.A15= Synonymous 1/2 - 1
20-34025666-C-A c.43G>T p.A15S Missense 1/2 - 3
20-34025666-C-T c.43G>A p.A15T Missense 1/2 - 2
20-34025668-A-C c.41T>G p.L14R Missense 1/2 - 1
20-34025672-A-G c.37T>C p.Y13H Missense 1/2 - 1
20-34025680-A-G c.29T>C p.L10S Missense 1/2 - 1
20-34025684-A-G c.25T>C p.F9L Missense 1/2 - 2
20-34025688-G-A c.21C>T p.L7= Synonymous 1/2 - 1
20-34025688-G-C c.21C>G p.L7= Synonymous 1/2 - 1
20-34025688-G-T c.21C>A p.L7= Synonymous 1/2 - 1
20-34025689-A-T c.20T>A p.L7H Missense 1/2 - 5
20-34025697-G-A c.12C>T p.P4= Synonymous 1/2 - 1
20-34025697-G-C c.12C>G p.P4= Synonymous 1/2 - 1
20-34025697-G-T c.12C>A p.P4= Synonymous 1/2 - 1
20-34025698-G-T c.11C>A p.P4H Missense 1/2 - 1
20-34025702-G-A c.7C>T p.L3F Missense 1/2 - 1
20-34025703-T-C c.6A>G p.R2= Synonymous 1/2 - 7
20-34025705-T-G c.4A>C p.R2= Synonymous 1/2 - 7
20-34025707-A-C c.2T>G p.M1? Missense 1/2 - 1
20-34025756-A-G c.-48T>C - 5-UTRSNV 1/2 - 81
20-34025843-C-T c.-135G>A - 5-UTRSNV 1/2 - 1
20-34025976-G-T c.-268C>A - 5-UTRSNV 1/2 - 1
20-34025983-A-G c.-275T>C - 5-UTRSNV 1/2 - 169
20-34025986-C-T c.-278G>A - 5-UTRSNV 1/2 - 1