ESR2

ESR2 estrogen receptor 2

Annotation transcript: NM_001437.3

978 unique variant annotations were identified in 831 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
14-64695087-A-C c.*4768T>G - IntergenicSNV 9/9 - 4
14-64695087-A-G c.*4768T>C - IntergenicSNV 9/9 - 4
14-64696817-T-A c.*3038A>T - IntergenicSNV 9/9 - 1
14-64696817-T-C c.*3038A>G - IntergenicSNV 9/9 - 1
14-64696817-T-G c.*3038A>C - IntergenicSNV 9/9 - 1
14-64697037-T-A c.*2818A>T - IntergenicSNV 9/9 - 3
14-64697037-T-C c.*2818A>G - IntergenicSNV 9/9 - 3
14-64697828-A-C c.*2027T>G - IntergenicSNV 9/9 - 1
14-64698891-C-T c.*964G>A - IntergenicSNV 9/9 - 4
14-64698932-G-T c.*923C>A - IntergenicSNV 9/9 - 8
14-64699358-C-T c.*497G>A - IntergenicSNV 9/9 - 8
14-64699450-C-A c.*405G>T - IntergenicSNV 9/9 - 4
14-64699774-A-T c.*81T>A - 3-UTRSNV 9/9 - 1
14-64699816-C-T c.*39G>A - 3-UTRSNV 9/9 - 140
14-64699860-G-C c.1588C>G p.Q530E Missense 9/9 - 1
14-64699862-G-A c.1586C>T p.S529F Missense 9/9 - 7
14-64699864-CTG-C c.1582_1583del p.Q528Vfs*18 Frameshift 9/9 - 1
14-64699869-G-A c.1579C>T p.P527S Missense 9/9 - 1
14-64699870-G-A c.1578C>T p.N526= Synonymous 9/9 - 1
14-64699870-G-T c.1578C>A p.N526K Missense 9/9 - 1
14-64699872-T-A c.1576A>T p.N526Y Missense 9/9 - 4
14-64699873-C-T c.1575G>A p.Q525= Synonymous 9/9 - 2
14-64699875-G-A c.1573C>T p.Q525* Nonsense 9/9 - 1
14-64699876-G-A c.1572C>T p.S524= Synonymous 9/9 - 2
14-64699876-G-C c.1572C>G p.S524= Synonymous 9/9 - 1
14-64699876-G-T c.1572C>A p.S524= Synonymous 9/9 - 1
14-64699877-G-A c.1571C>T p.S524F Missense 9/9 - 1
14-64699881-C-T c.1567G>A p.G523S Missense 9/9 - 1
14-64699886-T-G c.1562A>C p.K521T Missense 9/9 - 1
14-64699889-C-T c.1559G>A p.S520N Missense 9/9 - 1
14-64699890-T-A c.1558A>T p.S520C Missense 9/9 - 1
14-64699893-T-C c.1555A>G p.K519E Missense 9/9 - 1
14-64699904-G-A c.1544C>T p.A515V Missense 9/9 - 1
14-64699904-G-C c.1544C>G p.A515G Missense 9/9 - 1
14-64699906-C-T c.1542G>A p.P514= Synonymous 9/9 - 4
14-64699907-G-A c.1541C>T p.P514L Missense 9/9 - 4
14-64699912-G-A c.1536C>T p.C512= Synonymous 9/9 - 1
14-64699913-C-T c.1535G>A p.C512Y Missense 9/9 - 1
14-64699917-C-A c.1531G>T p.E511* Nonsense 9/9 - 1
14-64699918-G-A c.1530C>T p.S510= Synonymous 9/9 - 1
14-64699920-A-G c.1528T>C p.S510P Missense 9/9 - 1
14-64699922-C-T c.1526G>A p.G509E Missense 9/9 - 1
14-64699923-C-A c.1525G>T p.G509W Missense 9/9 - 1
14-64699923-C-T c.1525G>A p.G509R Missense 9/9 - 1
14-64699931-G-A c.1517C>T p.S506F Missense 9/9 - 1
14-64699937-T-A c.1511A>T p.K504M Missense 9/9 - 1
14-64699940-C-T c.1508G>A p.C503Y Missense 9/9 - 1
14-64699944-C-G c.1504G>C p.G502R Missense 9/9 - 2
14-64699944-C-T c.1504G>A p.G502R Missense 9/9 - 4
14-64699945-GCG-CCA c.1501_1503delinsTGG p.R501W Missense 9/9 - 1
14-64699947-G-A c.1501C>T p.R501C Missense 9/9 - 4
14-64699953-C-T c.1495G>A p.V499M Missense 9/9 - 7
14-64699954-G-A c.1494C>T p.H498= Synonymous 9/9 - 3
14-64699958-G-A c.1490C>T p.A497V Missense 9/9 - 1
14-64699965-G-T c.1483C>A p.L495M Missense 9/9 - 1
14-64699969-C-A c.1479G>T p.E493D Missense 9/9 - 1
14-64699969-C-G c.1479G>C p.E493D Missense 9/9 - 1
14-64699970-T-C c.1478A>G p.E493G Missense 9/9 - 1
14-64699972-C-T c.1476G>A p.L492= Synonymous 9/9 - 1
14-64699974-G-T c.1474C>A p.L492M Missense 9/9 - 1
14-64699979-A-G c.1469T>C p.L490P Missense 9/9 - 1
14-64699985-T-G c.1463A>C p.Y488S Missense 9/9 - 1
14-64699987-C-A c.1461G>T p.V487= Synonymous 9/9 - 1
14-64699987-CAC-GAT c.1459_1461delinsATC p.V487I Missense 9/9 - 1
14-64699987-C-G c.1461G>C p.V487= Synonymous 9/9 - 1
14-64699987-C-T c.1461G>A p.V487= Synonymous 9/9 - 1
14-64699991-G-A c.1457C>T p.P486L Missense 9/9 - 1
14-64699998-C-T c.1450G>A p.V484M Missense 9/9 - 2
14-64700006-C-G c.1442G>C p.C481S Missense 9/9 - 5
14-64700007-A-T c.1441T>A p.C481S Missense 9/9 - 5
14-64700008-C-G c.1440G>C p.K480N Missense 9/9 - 1
14-64700009-T-G c.1439A>C p.K480T Missense 9/9 - 2
14-64700011-C-A c.1437G>T p.M479I Missense 9/9 - 1
14-64700011-C-G c.1437G>C p.M479I Missense 9/9 - 1
14-64700011-C-T c.1437G>A p.M479I Missense 9/9 - 1
14-64700013-T-C c.1435A>G p.M479V Missense 9/9 - 1
14-64700014-G-A c.1434C>T p.N478= Synonymous 9/9 - 1
14-64700017-G-A c.1431C>T p.L477= Synonymous 9/9 - 1
14-64700019-G-C c.1429C>G p.L477V Missense 9/9 - 5
14-64700021-A-G c.1427T>C p.L476P Missense 9/9 - 1
14-64700021-A-T c.1427T>A p.L476Q Missense 9/9 - 3
14-64700023-A-G c.1425T>C p.H475= Synonymous 9/9 - 1
14-64700024-T-C c.1424A>G p.H475R Missense 9/9 - 1
14-64700028-C-T c.1420G>A p.E474K Missense 9/9 - 3
14-64700033-C-A c.1415G>T p.G472V Missense 9/9 - 1
14-64700034-C-T c.1414G>A p.G472S Missense 9/9 - 1
14-64700040-T-C c.1408A>G p.N470D Missense 9/9 - 1
14-64700045-T-C c.1407-4A>G - IntronicSNV - 8/8 16
14-64700292-C-T c.1407-251G>A - IntronicSNV - 8/8 1
14-64700299-G-A c.1407-258C>T - IntronicSNV - 8/8 1
14-64700739-A-G c.1407-698T>C - IntronicSNV - 8/8 2
14-64701042-G-A c.1406+646C>T - IntronicSNV - 8/8 4
14-64701430-C-G c.1406+258G>C - IntronicSNV - 8/8 1
14-64701430-C-T c.1406+258G>A - IntronicSNV - 8/8 1
14-64701446-T-C c.1406+242A>G - IntronicSNV - 8/8 1
14-64701456-C-G c.1406+232G>C - IntronicSNV - 8/8 5
14-64701502-G-A c.1406+186C>T - IntronicSNV - 8/8 1
14-64701516-GCC-G c.1406+170_1406+171del - IntronicDeletion - 8/8 1
14-64701683-C-T c.1406+5G>A - IntronicSNV - 8/8 1
14-64701688-C-A c.1406G>T p.S469I Missense 8/9 - 2
14-64701696-C-T c.1398G>A p.R466= Synonymous 8/9 - 1
14-64701697-C-A c.1397G>T p.R466M Missense 8/9 - 1
14-64701699-G-A c.1395C>T p.V465= Synonymous 8/9 - 1
14-64701699-G-C c.1395C>G p.V465= Synonymous 8/9 - 1
14-64701699-G-T c.1395C>A p.V465= Synonymous 8/9 - 1
14-64701701-C-T c.1393G>A p.V465I Missense 8/9 - 1
14-64701706-G-A c.1388C>T p.S463F Missense 8/9 - 1
14-64701706-G-C c.1388C>G p.S463C Missense 8/9 - 1
14-64701709-A-G c.1385T>C p.L462P Missense 8/9 - 1
14-64701714-C-A c.1380G>T p.M460I Missense 8/9 - 1
14-64701717-C-A c.1377G>T p.L459= Synonymous 8/9 - 1
14-64701717-C-G c.1377G>C p.L459= Synonymous 8/9 - 1
14-64701717-C-T c.1377G>A p.L459= Synonymous 8/9 - 1
14-64701719-G-A c.1375C>T p.L459= Synonymous 8/9 - 1
14-64701720-G-A c.1374C>T p.L458= Synonymous 8/9 - 1
14-64701721-A-T c.1373T>A p.L458H Missense 8/9 - 3
14-64701728-C-T c.1366G>A p.A456T Missense 8/9 - 1
14-64701730-A-G c.1364T>C p.L455P Missense 8/9 - 1
14-64701731-G-T c.1363C>A p.L455M Missense 8/9 - 1
14-64701733-C-A c.1361G>T p.R454L Missense 8/9 - 1
14-64701733-C-T c.1361G>A p.R454H Missense 8/9 - 1
14-64701734-G-A c.1360C>T p.R454C Missense 8/9 - 2
14-64701735-C-T c.1359G>A p.M453I Missense 8/9 - 1
14-64701736-A-G c.1358T>C p.M453T Missense 8/9 - 2
14-64701737-T-A c.1357A>T p.M453L Missense 8/9 - 1
14-64701752-A-T c.1342T>A p.S448T Missense 8/9 - 2
14-64701753-GG-TT c.1340_1341delinsAA p.S447* Nonsense 8/9 - 1
14-64701754-G-A c.1340C>T p.S447F Missense 8/9 - 1
14-64701756-G-A c.1338C>T p.I446= Synonymous 8/9 - 1
14-64701757-A-G c.1337T>C p.I446T Missense 8/9 - 1
14-64701761-C-A c.1333G>T p.G445C Missense 8/9 - 2
14-64701761-C-T c.1333G>A p.G445S Missense 8/9 - 2
14-64701763-C-T c.1331G>A p.S444N Missense 8/9 - 4
14-64701769-G-C c.1325C>G p.A442G Missense 8/9 - 2
14-64701771-A-G c.1323T>C p.I441= Synonymous 8/9 - 1
14-64701775-A-G c.1319T>C p.V440A Missense 8/9 - 1
14-64701784-A-G c.1310T>C p.L437S Missense 8/9 - 1
14-64701788-C-T c.1306G>A p.A436T Missense 8/9 - 1
14-64701791-C-A c.1303G>T p.D435Y Missense 8/9 - 3
14-64701791-C-G c.1303G>C p.D435H Missense 8/9 - 1
14-64701791-C-T c.1303G>A p.D435N Missense 8/9 - 2
14-64701792-G-A c.1302C>T p.T434= Synonymous 8/9 - 2
14-64701792-G-C c.1302C>G p.T434= Synonymous 8/9 - 1
14-64701792-G-T c.1302C>A p.T434= Synonymous 8/9 - 1
14-64701793-G-A c.1301C>T p.T434I Missense 8/9 - 1
14-64701797-C-T c.1297G>A p.V433M Missense 8/9 - 2
14-64701800-C-T c.1294G>A p.A432T Missense 8/9 - 1
14-64701804-C-A c.1290G>T p.L430= Synonymous 8/9 - 1
14-64701804-C-G c.1290G>C p.L430= Synonymous 8/9 - 1
14-64701804-C-T c.1290G>A p.L430= Synonymous 8/9 - 1
14-64701806-G-A c.1288C>T p.L430= Synonymous 8/9 - 1
14-64701805-A-T c.1289T>A p.L430Q Missense 8/9 - 1
14-64701808-A-T c.1286T>A p.L429* Nonsense 8/9 - 1
14-64701812-G-A c.1282C>T p.H428Y Missense 8/9 - 1
14-64701814-G-A c.1280C>T p.A427V Missense 8/9 - 5
14-64701819-C-T c.1275G>A p.K425= Synonymous 8/9 - 1
14-64701821-T-C c.1273A>G p.K425E Missense 8/9 - 1
14-64701822-CCG-GCT c.1270_1272delinsAGC p.R424S Missense 8/9 - 1
14-64701823-C-T c.1271G>A p.R424Q Missense 8/9 - 1
14-64701824-G-A c.1270C>T p.R424W Missense 8/9 - 1
14-64701829-C-A c.1265G>T p.S422I Missense 8/9 - 2
14-64701832-T-C c.1262A>G p.D421G Missense 8/9 - 1
14-64701835-G-A c.1259C>T p.A420V Missense 8/9 - 1
14-64701837-A-C c.1257T>G p.D419E Missense 8/9 - 1
14-64701838-T-A c.1256A>T p.D419V Missense 8/9 - 1
14-64701838-T-C c.1256A>G p.D419G Missense 8/9 - 1
14-64701840-C-G c.1254G>C p.Q418H Missense 8/9 - 2
14-64701842-G-A c.1252C>T p.Q418* Nonsense 8/9 - 1
14-64701842-G-T c.1252C>A p.Q418K Missense 8/9 - 1
14-64701845-T-G c.1249A>C p.T417P Missense 8/9 - 1
14-64701847-G-A c.1247C>T p.A416V Missense 8/9 - 1
14-64701850-G-A c.1244C>T p.T415I Missense 8/9 - 1
14-64701857-G-C c.1237C>G p.L413V Missense 8/9 - 4
14-64701857-G-T c.1237C>A p.L413M Missense 8/9 - 1
14-64701866-T-C c.1228A>G p.M410V Missense 8/9 - 1
14-64701870-T-A c.1226-2A>T - IntronicSNV - 7/8 1
14-64702217-A-G c.1226-349T>C - IntronicSNV - 7/8 5
14-64702217-A-T c.1226-349T>A - IntronicSNV - 7/8 5
14-64703318-T-C c.1226-1450A>G - IntronicSNV - 7/8 5
14-64703593-G-A c.1226-1725C>T - IntronicSNV - 7/8 10
14-64703593-G-T c.1226-1725C>A - IntronicSNV - 7/8 10
14-64703883-C-T c.1226-2015G>A - IntronicSNV - 7/8 1
14-64704994-A-G c.1226-3126T>C - IntronicSNV - 7/8 8
14-64710417-A-G c.1225+5847T>C - IntronicSNV - 7/8 11
14-64710417-A-T c.1225+5847T>A - IntronicSNV - 7/8 11
14-64712051-G-A c.1225+4213C>T - IntronicSNV - 7/8 1
14-64712355-A-G c.1225+3909T>C - IntronicSNV - 7/8 3
14-64714567-G-C c.1225+1697C>G - IntronicSNV - 7/8 1
14-64715773-G-A c.1225+491C>T - IntronicSNV - 7/8 9
14-64715794-A-G c.1225+470T>C - IntronicSNV - 7/8 2
14-64716266-G-A c.1223C>T p.S408F Missense 7/9 - 1
14-64716270-T-A c.1219A>T p.N407Y Missense 7/9 - 1
14-64716272-A-C c.1217T>G p.L406R Missense 7/9 - 1
14-64716272-A-G c.1217T>C p.L406P Missense 7/9 - 1
14-64716273-G-A c.1216C>T p.L406F Missense 7/9 - 1
14-64716273-G-C c.1216C>G p.L406V Missense 7/9 - 1
14-64716274-C-A c.1215G>T p.L405= Synonymous 7/9 - 1
14-64716281-A-G c.1208T>C p.M403T Missense 7/9 - 1
14-64716282-T-C c.1207A>G p.M403V Missense 7/9 - 1
14-64716282-T-TGA c.1206_1207insTC p.M403Sfs*2 Frameshift 7/9 - 1
14-64716283-G-A c.1206C>T p.A402= Synonymous 7/9 - 1
14-64716284-G-A c.1205C>T p.A402V Missense 7/9 - 1
14-64716291-C-G c.1198G>C p.V400L Missense 7/9 - 2
14-64716292-A-G c.1197T>C p.C399= Synonymous 7/9 - 1
14-64716295-G-A c.1194C>T p.L398= Synonymous 7/9 - 4
14-64716295-G-C c.1194C>G p.L398= Synonymous 7/9 - 1
14-64716299-T-C c.1190A>G p.Y397C Missense 7/9 - 1
14-64716304-T-C c.1185A>G p.K395= Synonymous 7/9 - 1
14-64716307-G-C c.1182C>G p.H394Q Missense 7/9 - 3
14-64716309-G-A c.1180C>T p.H394Y Missense 7/9 - 1
14-64716312-G-A c.1177C>T p.Q393* Nonsense 7/9 - 1
14-64716312-G-T c.1177C>A p.Q393K Missense 7/9 - 1
14-64716313-G-A c.1176C>T p.L392= Synonymous 7/9 - 2
14-64716313-G-C c.1176C>G p.L392= Synonymous 7/9 - 9
14-64716313-G-T c.1176C>A p.L392= Synonymous 7/9 - 2
14-64716324-C-A c.1165G>T p.E389* Nonsense 7/9 - 1
14-64716326-C-A c.1163G>T p.R388L Missense 7/9 - 1
14-64716326-CG-GC c.1162_1163delinsGC p.R388A Missense 7/9 - 1
14-64716326-C-T c.1163G>A p.R388Q Missense 7/9 - 2
14-64716327-G-A c.1162C>T p.R388* Nonsense 7/9 - 5
14-64716331-C-A c.1158G>T p.R386S Missense 7/9 - 2
14-64716331-C-G c.1158G>C p.R386S Missense 7/9 - 1
14-64716333-T-C c.1156A>G p.R386G Missense 7/9 - 1
14-64716338-G-A c.1151C>T p.T384I Missense 7/9 - 1
14-64716339-T-C c.1150A>G p.T384A Missense 7/9 - 1
14-64716340-A-C c.1149T>G p.T383= Synonymous 7/9 - 1
14-64716340-A-G c.1149T>C p.T383= Synonymous 7/9 - 1
14-64716340-A-T c.1149T>A p.T383= Synonymous 7/9 - 1
14-64716348-G-T c.1141C>A p.L381M Missense 7/9 - 1
14-64716354-T-C c.1135A>G p.M379V Missense 7/9 - 1
14-64716356-T-C c.1133A>G p.D378G Missense 7/9 - 1
14-64716357-C-G c.1132G>C p.D378H Missense 7/9 - 2
14-64716361-G-A c.1128C>T p.I376= Synonymous 7/9 - 1
14-64716368-A-G c.1121T>C p.L374P Missense 7/9 - 3
14-64716370-A-C c.1119T>G p.I373M Missense 7/9 - 1
14-64716374-C-T c.1115G>A p.G372E Missense 7/9 - 3
14-64716381-C-T c.1108G>A p.V370I Missense 7/9 - 2
14-64716382-G-A c.1107C>T p.C369= Synonymous 7/9 - 1
14-64716382-G-C c.1107C>G p.C369W Missense 7/9 - 2
14-64716383-CA-GT c.1105_1106delinsAC p.C369T Missense 7/9 - 1
14-64716387-T-C c.1102A>G p.K368E Missense 7/9 - 1
14-64716388-C-T c.1101G>A p.G367= Synonymous 7/9 - 1
14-64716389-C-T c.1100G>A p.G367E Missense 7/9 - 4
14-64716390-C-T c.1099G>A p.G367R Missense 7/9 - 1
14-64716392-T-G c.1097A>C p.E366A Missense 7/9 - 1
14-64716393-C-A c.1096G>T p.E366* Nonsense 7/9 - 1
14-64716393-C-T c.1096G>A p.E366K Missense 7/9 - 1
14-64716397-C-T c.1092G>A p.R364= Synonymous 7/9 - 1
14-64716404-A-T c.1092-7T>A - IntronicSNV - 6/8 1
14-64716629-A-C c.1092-232T>G - IntronicSNV - 6/8 2
14-64716693-A-C c.1092-296T>G - IntronicSNV - 6/8 3
14-64719117-G-A c.1092-2720C>T - IntronicSNV - 6/8 1
14-64720264-T-C c.1091+3680A>G - IntronicSNV - 6/8 6
14-64721649-T-C c.1091+2295A>G - IntronicSNV - 6/8 2
14-64723525-G-A c.1091+419C>T - IntronicSNV - 6/8 8
14-64723769-C-T c.1091+175G>A - IntronicSNV - 6/8 1
14-64723949-C-T c.1086G>A p.L362= Synonymous 6/9 - 5
14-64723960-C-A c.1075G>T p.D359Y Missense 6/9 - 5
14-64723965-G-A c.1070C>T p.A357V Missense 6/9 - 1
14-64723968-A-T c.1067T>A p.F356Y Missense 6/9 - 1
14-64723969-A-C c.1066T>G p.F356V Missense 6/9 - 1
14-64723970-G-T c.1065C>A p.I355= Synonymous 6/9 - 1
14-64723971-A-G c.1064T>C p.I355T Missense 6/9 - 1
14-64723973-G-A c.1062C>T p.L354= Synonymous 6/9 - 1
14-64723975-G-A c.1060C>T p.L354F Missense 6/9 - 2
14-64723979-G-A c.1056C>T p.G352= Synonymous 6/9 - 1
14-64723980-C-T c.1055G>A p.G352D Missense 6/9 - 4
14-64723981-C-A c.1054G>T p.G352C Missense 6/9 - 4
14-64723981-C-T c.1054G>A p.G352S Missense 6/9 - 5
14-64723982-G-A c.1053C>T p.P351= Synonymous 6/9 - 1
14-64723982-G-C c.1053C>G p.P351= Synonymous 6/9 - 1
14-64723982-G-T c.1053C>A p.P351= Synonymous 6/9 - 1
14-64723983-G-C c.1052C>G p.P351R Missense 6/9 - 1
14-64723984-G-A c.1051C>T p.P351S Missense 6/9 - 2
14-64723988-G-T c.1047C>A p.D349E Missense 6/9 - 1
14-64723989-T-A c.1046A>T p.D349V Missense 6/9 - 2
14-64723990-C-A c.1045G>T p.D349Y Missense 6/9 - 1
14-64723990-C-G c.1045G>C p.D349H Missense 6/9 - 1
14-64723991-A-G c.1044T>C p.I348= Synonymous 6/9 - 1
14-64723995-G-A c.1040C>T p.S347L Missense 6/9 - 1
14-64723998-C-T c.1037G>A p.R346H Missense 6/9 - 3
14-64723999-G-A c.1036C>T p.R346C Missense 6/9 - 3
14-64723999-G-T c.1036C>A p.R346S Missense 6/9 - 2
14-64724006-C-A c.1029G>T p.L343= Synonymous 6/9 - 1
14-64724006-C-G c.1029G>C p.L343= Synonymous 6/9 - 1
14-64724006-C-T c.1029G>A p.L343= Synonymous 6/9 - 1
14-64724008-G-A c.1027C>T p.L343= Synonymous 6/9 - 1
14-64724014-T-C c.1021A>G p.M341V Missense 6/9 - 1
14-64724015-C-T c.1020G>A p.M340I Missense 6/9 - 1
14-64724021-C-T c.1014G>A p.V338= Synonymous 6/9 - 2
14-64724023-C-T c.1012G>A p.V338M Missense 6/9 - 1
14-64724024-C-A c.1011G>T p.E337D Missense 6/9 - 1
14-64724024-C-T c.1011G>A p.E337E UnclassifiedSNV 6/9 - 1
14-64724025-T-A c.1010A>T p.E337V Missense 6/9 - 5
14-64724032-A-G c.1003T>C p.W335R Missense 6/9 - 2
14-64724034-C-A c.1001G>T p.C334F Missense 6/9 - 1
14-64724034-C-G c.1001G>C p.C334S Missense 6/9 - 1
14-64724035-A-T c.1000T>A p.C334S Missense 6/9 - 1
14-64724039-C-A c.996G>T p.E332D Missense 6/9 - 1
14-64724039-C-G c.996G>C p.E332D Missense 6/9 - 1
14-64724039-C-T c.996G>A p.E332= Synonymous 6/9 - 3
14-64724040-T-C c.995A>G p.E332G Missense 6/9 - 1
14-64724045-G-C c.990C>G p.L330= Synonymous 6/9 - 1
14-64724047-G-A c.988C>T p.L330F Missense 6/9 - 1
14-64724049-C-T c.986G>A p.R329Q Missense 6/9 - 2
14-64724050-G-A c.985C>T p.R329W Missense 6/9 - 3
14-64724051-C-A c.984G>T p.V328= Synonymous 6/9 - 8
14-64724051-C-G c.984G>C p.V328= Synonymous 6/9 - 8
14-64724051-C-T c.984G>A p.V328= Synonymous 6/9 - 123
14-64724057-G-C c.978C>G p.D326E Missense 6/9 - 1
14-64724058-T-A c.977A>T p.D326V Missense 6/9 - 1
14-64724058-T-C c.977A>G p.D326G Missense 6/9 - 4
14-64724059-C-A c.976G>T p.D326Y Missense 6/9 - 1
14-64724059-C-G c.976G>C p.D326H Missense 6/9 - 3
14-64724059-C-T c.976G>A p.D326N UnclassifiedSNV 6/9 - 5
14-64724060-G-A c.975C>T p.F325= Synonymous 6/9 - 2
14-64724061-A-G c.974T>C p.F325S Missense 6/9 - 1
14-64724060-G-C c.975C>G p.F325L Missense 6/9 - 1
14-64724060-G-T c.975C>A p.F325L Missense 6/9 - 1
14-64724062-A-G c.973T>C p.F325L Missense 6/9 - 1
14-64724065-G-A c.970C>T p.L324= Synonymous 6/9 - 4
14-64724067-C-A c.968G>T p.S323I Missense 6/9 - 1
14-64724068-T-C c.967A>G p.S323G Missense 6/9 - 1
14-64724072-C-T c.963G>A p.E321= Synonymous 6/9 - 4
14-64724074-C-T c.961G>A p.E321K Missense 6/9 - 4
14-64724075-C-A c.960G>T p.V320= Synonymous 6/9 - 1
14-64724075-C-G c.960G>C p.V320= Synonymous 6/9 - 1
14-64724075-C-T c.960G>A p.V320= Synonymous 6/9 - 1
14-64724078-A-T c.957T>A p.F319L Missense 6/9 - 1
14-64724077-CA-C c.957del p.F319Lfs*21 Frameshift 6/9 - 1
14-64724102-G-A c.953-20C>T - IntronicSNV - 5/8 1
14-64724102-G-C c.953-20C>G - IntronicSNV - 5/8 1
14-64725369-G-A c.953-1287C>T - IntronicSNV - 5/8 1
14-64726847-G-A c.952+320C>T - IntronicSNV - 5/8 1
14-64726854-A-T c.952+313T>A - IntronicSNV - 5/8 2
14-64727167-C-CA c.951_952insT p.G318Wfs*32 SpliceDonorInsertion 5/9 - 1
14-64727167-C-CT c.951_952insA p.G318Rfs*32 SpliceDonorInsertion 5/9 - 1
14-64727167-C-T c.952G>A p.G318S Missense 5/9 - 2
14-64727168-G-T c.951C>A p.P317= Synonymous 5/9 - 1
14-64727167-C-CG c.951dup p.G318Rfs*32 SpliceDonorInsertion 5/9 - 1
14-64727170-G-A c.949C>T p.P317S Missense 5/9 - 2
14-64727170-G-T c.949C>A p.P317T Missense 5/9 - 1
14-64727172-A-T c.947T>A p.I316N Missense 5/9 - 3
14-64727178-T-C c.941A>G p.K314R Missense 5/9 - 1
14-64727181-G-C c.938C>G p.A313G Missense 5/9 - 2
14-64727182-C-T c.937G>A p.A313T Missense 5/9 - 1
14-64727185-A-G c.934T>C p.W312R Missense 5/9 - 1
14-64727185-A-T c.934T>A p.W312R Missense 5/9 - 1
14-64727182-CCCAGCTGATCATGTGTA-C c.920_936del p.V307Gfs*37 Frameshift 5/9 - 1
14-64727187-CT-AA c.931_932delinsTT p.S311F Missense 5/9 - 1
14-64727188-T-A c.931A>T p.S311C Missense 5/9 - 1
14-64727188-T-C c.931A>G p.S311G Missense 5/9 - 1
14-64727192-C-A c.927G>T p.M309I Missense 5/9 - 1
14-64727192-C-G c.927G>C p.M309I Missense 5/9 - 1
14-64727192-C-T c.927G>A p.M309I Missense 5/9 - 1
14-64727194-T-C c.925A>G p.M309V Missense 5/9 - 1
14-64727196-T-C c.923A>G p.H308R Missense 5/9 - 1
14-64727196-T-G c.923A>C p.H308P Missense 5/9 - 1
14-64727199-A-G c.920T>C p.V307A Missense 5/9 - 2
14-64727201-C-A c.918G>T p.L306F Missense 5/9 - 1
14-64727206-C-T c.913G>A p.E305K Missense 5/9 - 1
14-64727208-T-A c.911A>T p.K304M Missense 5/9 - 1
14-64727208-T-G c.911A>C p.K304T Missense 5/9 - 2
14-64727211-T-G c.908A>C p.D303A Missense 5/9 - 1
14-64727212-C-T c.907G>A p.D303N Missense 5/9 - 2
14-64727213-G-A c.906C>T p.A302= Synonymous 5/9 - 2
14-64727213-G-C c.906C>G p.A302= Synonymous 5/9 - 1
14-64727213-G-T c.906C>A p.A302= Synonymous 5/9 - 2
14-64727214-G-A c.905C>T p.A302V Missense 5/9 - 4
14-64727215-C-A c.904G>T p.A302S Missense 5/9 - 1
14-64727223-G-A c.896C>T p.T299I Missense 5/9 - 1
14-64727228-GG-TT c.890_891delinsAA p.S297* Nonsense 5/9 - 1
14-64727235-AT-TA c.883_884delinsTA p.M295* Nonsense 5/9 - 1
14-64727238-AT-TA c.880_881delinsTA p.M294* Nonsense 5/9 - 1
14-64727242-A-G c.877T>C p.S293P Missense 5/9 - 1
14-64727244-G-A c.875C>T p.A292V Missense 5/9 - 1
14-64727249-G-A c.870C>T p.T290= Synonymous 5/9 - 2
14-64727249-G-C c.870C>G p.T290= Synonymous 5/9 - 1
14-64727249-G-T c.870C>A p.T290= Synonymous 5/9 - 1
14-64727251-T-C c.868A>G p.T290A Missense 5/9 - 1
14-64727253-A-T c.866T>A p.F289Y Missense 5/9 - 1
14-64727252-G-C c.867C>G p.F289L Missense 5/9 - 2
14-64727252-G-T c.867C>A p.F289L Missense 5/9 - 2
14-64727254-A-G c.865T>C p.F289L Missense 5/9 - 3
14-64727258-C-T c.861G>A p.A287= Synonymous 5/9 - 1
14-64727260-C-T c.859G>A p.A287T Missense 5/9 - 1
14-64727266-G-A c.853C>T p.P285S Missense 5/9 - 1
14-64727268-C-T c.851G>A p.R284H Missense 5/9 - 1
14-64727269-G-A c.850C>T p.R284C Missense 5/9 - 3
14-64727269-G-C c.850C>G p.R284G Missense 5/9 - 1
14-64727272-T-C c.847A>G p.S283G Missense 5/9 - 1
14-64727275-T-G c.844A>C p.I282L Missense 5/9 - 1
14-64727278-G-T c.841C>A p.L281M Missense 5/9 - 1
14-64727282-A-G c.837T>C p.H279= Synonymous 5/9 - 1
14-64727286-G-A c.833C>T p.P278L Missense 5/9 - 2
14-64727287-G-A c.832C>T p.P278S Missense 5/9 - 1
14-64727288-C-A c.831G>T p.P277= Synonymous 5/9 - 1
14-64727288-C-G c.831G>C p.P277= Synonymous 5/9 - 1
14-64727288-C-T c.831G>A p.P277= Synonymous 5/9 - 2
14-64727289-G-A c.830C>T p.P277L Missense 5/9 - 1
14-64727289-G-T c.830C>A p.P277Q Missense 5/9 - 1
14-64727290-G-A c.829C>T p.P277S Missense 5/9 - 1
14-64727290-G-T c.829C>A p.P277T Missense 5/9 - 1
14-64727292-T-C c.827A>G p.E276G Missense 5/9 - 1
14-64727293-C-G c.826G>C p.E276Q Missense 5/9 - 1
14-64727293-C-T c.826G>A p.E276K Missense 5/9 - 1
14-64727294-A-C c.825T>G p.A275= Synonymous 5/9 - 1
14-64727294-A-G c.825T>C p.A275= Synonymous 5/9 - 1
14-64727294-A-T c.825T>A p.A275= Synonymous 5/9 - 1
14-64727295-G-A c.824C>T p.A275V Missense 5/9 - 1
14-64727295-G-C c.824C>G p.A275G Missense 5/9 - 1
14-64727296-C-T c.823G>A p.A275T Missense 5/9 - 1
14-64727301-A-T c.818T>A p.L273Q Missense 5/9 - 1
14-64727303-G-A c.816C>T p.L272= Synonymous 5/9 - 1
14-64727303-G-C c.816C>G p.L272= Synonymous 5/9 - 1
14-64727303-G-T c.816C>A p.L272= Synonymous 5/9 - 1
14-64727305-G-A c.814C>T p.L272F Missense 5/9 - 1
14-64727305-G-T c.814C>A p.L272I Missense 5/9 - 1
14-64727306-G-A c.813C>T p.T271= Synonymous 5/9 - 1
14-64727307-G-A c.812C>T p.T271I Missense 5/9 - 1
14-64727309-G-A c.810C>T p.L270= Synonymous 5/9 - 2
14-64727309-G-C c.810C>G p.L270= Synonymous 5/9 - 1
14-64727309-G-T c.810C>A p.L270= Synonymous 5/9 - 1
14-64727311-G-A c.808C>T p.L270F Missense 5/9 - 3
14-64727312-C-A c.807G>T p.V269= Synonymous 5/9 - 2
14-64727312-C-G c.807G>C p.V269= Synonymous 5/9 - 2
14-64727312-C-T c.807G>A p.V269= Synonymous 5/9 - 2
14-64727313-A-G c.806T>C p.V269A Missense 5/9 - 1
14-64727320-G-T c.799C>A p.Q267K Missense 5/9 - 1
14-64727322-T-G c.797A>C p.E266A Missense 5/9 - 1
14-64727324-G-A c.795C>T p.P265= Synonymous 5/9 - 3
14-64727324-G-C c.795C>G p.P265= Synonymous 5/9 - 1
14-64727324-G-T c.795C>A p.P265= Synonymous 5/9 - 1
14-64727325-G-A c.794C>T p.P265L Missense 5/9 - 3
14-64727328-CT-GG c.790_791delinsCC p.S264P Missense 5/9 - 1
14-64727329-T-C c.790A>G p.S264G Missense 5/9 - 1
14-64727334-G-A c.785C>T p.A262V Missense 5/9 - 1
14-64727335-C-T c.784G>A p.A262T Missense 5/9 - 8
14-64727336-G-A c.783C>T p.D261= Synonymous 5/9 - 1
14-64727338-C-G c.781G>C p.D261H Missense 5/9 - 1
14-64727342-CAG-AAA c.775_777delinsTTT p.L259F Missense 5/9 - 1
14-64727344-G-T c.775C>A p.L259M Missense 5/9 - 2
14-64727345-C-A c.774G>T p.L258= Synonymous 5/9 - 1
14-64727345-C-G c.774G>C p.L258= Synonymous 5/9 - 1
14-64727345-C-T c.774G>A p.L258= Synonymous 5/9 - 1
14-64727347-G-A c.772C>T p.L258= Synonymous 5/9 - 2
14-64727352-CG-TA c.766_767delinsTA p.R256* Nonsense 5/9 - 1
14-64727351-C-A c.768G>T p.R256= Synonymous 5/9 - 1
14-64727351-C-G c.768G>C p.R256= Synonymous 5/9 - 1
14-64727351-C-T c.768G>A p.R256= Synonymous 5/9 - 1
14-64727353-G-A c.766C>T p.R256W Missense 5/9 - 3
14-64727353-G-T c.766C>A p.R256= Synonymous 5/9 - 1
14-64727357-TCG-CCA c.760_762delinsTGG p.R254W Missense 5/9 - 1
14-64727358-C-A c.761G>T p.R254L Missense 5/9 - 1
14-64727358-CG-TT c.760_761delinsAA p.R254K Missense 5/9 - 1
14-64727358-C-T c.761G>A p.R254Q Missense 5/9 - 3
14-64727359-G-C c.760C>G p.R254G Missense 5/9 - 1
14-64727360-G-C c.759C>G p.P253= Synonymous 5/9 - 1
14-64727361-G-A c.758C>T p.P253L Missense 5/9 - 1
14-64727365-C-T c.754G>A p.A252T Missense 5/9 - 7
14-64727366-G-A c.753C>T p.H251= Synonymous 5/9 - 1
14-64727369-GC-CT c.749_750delinsAG p.G250E Missense 5/9 - 1
14-64727370-C-T c.749G>A p.G250D Missense 5/9 - 1
14-64727371-C-T c.748G>A p.G250S Missense 5/9 - 2
14-64727373-C-G c.746G>C p.G249A Missense 5/9 - 1
14-64727373-C-T c.746G>A p.G249D Missense 5/9 - 1
14-64727379-C-A c.740G>T p.R247I Missense 5/9 - 1
14-64727379-C-T c.740G>A p.R247K Missense 5/9 - 6
14-64727383-T-A c.736A>T p.K246* Nonsense 5/9 - 1
14-64727386-C-G c.733G>C p.A245P Missense 5/9 - 1
14-64727386-C-T c.733G>A p.A245T Missense 5/9 - 6
14-64727386-CCTTGCCGGCACAGTGCAGCTG-C c.712_732del p.Q238_K244del InFrameDeletion 5/9 - 3
14-64727390-G-T c.729C>A p.G243= Synonymous 5/9 - 1
14-64727393-G-A c.726C>T p.A242= Synonymous 5/9 - 1
14-64727394-G-A c.725C>T p.A242V Missense 5/9 - 1
14-64727394-G-C c.725C>G p.A242G Missense 5/9 - 1
14-64727397-C-A c.722G>T p.C241F Missense 5/9 - 1
14-64727398-A-G c.721T>C p.C241R Missense 5/9 - 1
14-64727401-G-C c.718C>G p.H240D Missense 5/9 - 1
14-64727403-A-G c.716T>C p.L239P Missense 5/9 - 1
14-64727406-T-A c.713A>T p.Q238L Missense 5/9 - 1
14-64727408-C-T c.711G>A p.E237= Synonymous 5/9 - 1
14-64727409-T-C c.710A>G p.E237G Missense 5/9 - 1
14-64727410-C-G c.709G>C p.E237Q Missense 5/9 - 1
14-64727410-C-T c.709G>A p.E237K Missense 5/9 - 1
14-64727411-G-C c.708C>G p.D236E Missense 5/9 - 2
14-64727411-G-T c.708C>A p.D236E Missense 5/9 - 3
14-64727413-C-A c.706G>T p.D236Y Missense 5/9 - 2
14-64727418-C-T c.701G>A p.S234N Missense 5/9 - 1
14-64727421-C-T c.698G>A p.R233K Missense 5/9 - 1
14-64727423-C-A c.696G>T p.Q232H Missense 5/9 - 1
14-64727423-C-G c.696G>C p.Q232H Missense 5/9 - 2
14-64727423-C-T c.696G>A p.Q232= Synonymous 5/9 - 1
14-64727427-C-T c.692G>A p.R231K Missense 5/9 - 2
14-64727429-C-T c.690G>A p.R230= Synonymous 5/9 - 4
14-64727431-G-T c.688C>A p.R230= Synonymous 5/9 - 1
14-64727433-A-G c.686T>C p.V229A Missense 5/9 - 1
14-64727433-A-T c.686T>A p.V229E Missense 5/9 - 1
14-64727439-C-A c.680G>T p.R227L Missense 5/9 - 5
14-64727439-C-T c.680G>A p.R227H Missense 5/9 - 1
14-64727440-G-A c.679C>T p.R227C Missense 5/9 - 7
14-64727441-G-C c.678C>G p.Y226* Nonsense 5/9 - 1
14-64727444-C-A c.675G>T p.G225= Synonymous 5/9 - 2
14-64727444-C-T c.675G>A p.G225= Synonymous 5/9 - 1
14-64727445-C-A c.674G>T p.G225V Missense 5/9 - 1
14-64727445-C-T c.674G>A p.G225E Missense 5/9 - 2
14-64727446-C-G c.673G>C p.G225R Missense 5/9 - 1
14-64727448-C-G c.671G>C p.C224S Missense 5/9 - 1
14-64727449-A-T c.670T>A p.C224S Missense 5/9 - 1
14-64727451-CT-TG c.667_668delinsCA p.R223Q Missense 5/9 - 1
14-64727452-T-TA c.666_667insT p.R223* Nonsense 5/9 - 1
14-64727453-C-T c.666G>A p.E222= Synonymous 5/9 - 1
14-64727455-C-G c.664G>C p.E222Q Missense 5/9 - 1
14-64727455-C-T c.664G>A p.E222K Missense 5/9 - 1
14-64727458-T-C c.661A>G p.R221G Missense 5/9 - 7
14-64727459-CCG-GAT c.658_660delinsATC p.R220I Missense 5/9 - 1
14-64727460-CG-TA c.658_659delinsTA p.R220* Nonsense 5/9 - 1
14-64727460-C-T c.659G>A p.R220Q Missense 5/9 - 4
14-64727459-C-A c.660G>T p.R220= Synonymous 5/9 - 2
14-64727459-C-G c.660G>C p.R220= Synonymous 5/9 - 2
14-64727459-C-T c.660G>A p.R220= Synonymous 5/9 - 2
14-64727461-G-A c.658C>T p.R220W Missense 5/9 - 2
14-64727461-G-T c.658C>A p.R220= Synonymous 5/9 - 4
14-64727463-G-A c.656C>T p.S219F Missense 5/9 - 2
14-64728280-A-C c.653-814T>G - IntronicSNV - 4/8 1
14-64728280-A-G c.653-814T>C - IntronicSNV - 4/8 1
14-64728280-A-T c.653-814T>A - IntronicSNV - 4/8 1
14-64730021-A-C c.653-2555T>G - IntronicSNV - 4/8 3
14-64731983-G-A c.652+3530C>T - IntronicSNV - 4/8 1
14-64733518-GT-G c.652+1994del - IntronicDeletion - 4/8 1
14-64734027-G-A c.652+1486C>T - IntronicSNV - 4/8 5
14-64734282-A-C c.652+1231T>G - IntronicSNV - 4/8 5
14-64734282-A-G c.652+1231T>C - IntronicSNV - 4/8 5
14-64734804-G-A c.652+709C>T - IntronicSNV - 4/8 1
14-64735496-G-A c.652+17C>T - IntronicSNV - 4/8 2
14-64735512-C-T c.652+1G>A - IntronicSNV - 4/8 1
14-64735513-C-A c.652G>T p.G218C Missense 4/9 - 3
14-64735515-CA-GT c.649_650delinsAC p.C217T Missense 4/9 - 1
14-64735518-T-G c.647A>C p.K216T Missense 4/9 - 1
14-64735520-C-T c.645G>A p.V215= Synonymous 4/9 - 2
14-64735523-C-T c.642G>A p.M214I Missense 4/9 - 2
14-64735527-C-G c.638G>C p.G213A Missense 4/9 - 1
14-64735527-C-T c.638G>A p.G213E Missense 4/9 - 7
14-64735529-C-A c.636G>T p.V212= Synonymous 4/9 - 1
14-64735529-C-G c.636G>C p.V212= Synonymous 4/9 - 1
14-64735529-C-T c.636G>A p.V212= Synonymous 4/9 - 1
14-64735531-C-T c.634G>A p.V212M Missense 4/9 - 1
14-64735532-T-C c.633A>G p.E211= Synonymous 4/9 - 1
14-64735534-C-T c.631G>A p.E211K Missense 4/9 - 5
14-64735535-G-A c.630C>T p.Y210= Synonymous 4/9 - 2
14-64735535-G-C c.630C>G p.Y210* Nonsense 4/9 - 1
14-64735535-G-T c.630C>A p.Y210* Nonsense 4/9 - 1
14-64735536-T-A c.629A>T p.Y210F Missense 4/9 - 1
14-64735537-A-G c.628T>C p.Y210H Missense 4/9 - 1
14-64735539-C-A c.626G>T p.C209F Missense 4/9 - 1
14-64735540-A-G c.625T>C p.C209R Missense 4/9 - 1
14-64735545-C-T c.620G>A p.R207Q Missense 4/9 - 6
14-64735546-G-A c.619C>T p.R207W Missense 4/9 - 2
14-64735551-C-T c.614G>A p.R205Q Missense 4/9 - 1
14-64735552-G-A c.613C>T p.R205* Nonsense 4/9 - 2
14-64735554-C-A c.611G>T p.C204F Missense 4/9 - 1
14-64735555-A-G c.610T>C p.C204R Missense 4/9 - 1
14-64735557-G-A c.608C>T p.A203V Missense 4/9 - 2
14-64735561-G-A c.604C>T p.Q202* Nonsense 4/9 - 1
14-64735563-C-A c.602G>T p.C201F Missense 4/9 - 1
14-64735563-C-T c.602G>A p.C201Y Missense 4/9 - 1
14-64735566-CT-TA c.598_599delinsTA p.S200Y Missense 4/9 - 1
14-64735572-C-G c.593G>C p.R198P Missense 4/9 - 1
14-64735572-C-T c.593G>A p.R198H Missense 4/9 - 2
14-64735573-G-T c.592C>A p.R198S Missense 4/9 - 1
14-64735574-C-T c.591G>A p.R197= Synonymous 4/9 - 1
14-64735575-CG-GC c.589_590delinsGC p.R197A Missense 4/9 - 1
14-64735576-G-A c.589C>T p.R197W Missense 4/9 - 6
14-64735581-T-G c.584A>C p.K195T Missense 4/9 - 2
14-64735585-C-T c.580G>A p.D194N Missense 4/9 - 11
14-64735586-G-A c.579C>T p.I193= Synonymous 4/9 - 1
14-64735588-T-C c.577A>G p.I193V Missense 4/9 - 1
14-64735589-TG-CA c.575_576inv p.T192M Missense 4/9 - 1
14-64735590-G-A c.575C>T p.T192I Missense 4/9 - 1
14-64735593-C-A c.572G>T p.C191F Missense 4/9 - 1
14-64735593-CA-GC c.571_572delinsGC p.C191A Missense 4/9 - 1
14-64735597-G-A c.568C>T p.Q190* Nonsense 4/9 - 1
14-64735600-T-G c.565A>C p.N189H Missense 4/9 - 2
14-64735601-TGT-ACA c.562_564inv p.T188C Missense 4/9 - 1
14-64735606-C-A c.559G>T p.A187S Missense 4/9 - 1
14-64735611-C-A c.554G>T p.C185F Missense 4/9 - 1
14-64735611-C-T c.554G>A p.C185Y Missense 4/9 - 1
14-64735612-A-G c.553T>C p.C185R Missense 4/9 - 1
14-64735613-A-C c.552T>G p.I184M Missense 4/9 - 3
14-64735615-T-G c.550A>C p.I184L Missense 4/9 - 1
14-64735616-A-G c.549T>C p.Y183= Synonymous 4/9 - 3
14-64735618-A-C c.547T>G p.Y183D Missense 4/9 - 2
14-64735621-C-A c.544G>T p.D182Y Missense 4/9 - 1
14-64735622-A-G c.543T>C p.N181= Synonymous 4/9 - 2
14-64735621-CATT-C c.541_543del p.N181del InFrameDeletion 4/9 - 4
14-64735624-T-C c.541A>G p.N181D Missense 4/9 - 2
14-64735629-C-G c.536G>C p.G179A Missense 4/9 - 2
14-64735629-C-T c.536G>A p.G179E Missense 4/9 - 8
14-64736660-G-A c.536-1031C>T - IntronicSNV - 3/8 6
14-64736660-G-C c.536-1031C>G - IntronicSNV - 3/8 6
14-64736924-A-G c.536-1295T>C - IntronicSNV - 3/8 1
14-64737471-A-G c.536-1842T>C - IntronicSNV - 3/8 5
14-64737471-A-T c.536-1842T>A - IntronicSNV - 3/8 5
14-64738979-G-A c.536-3350C>T - IntronicSNV - 3/8 1
14-64738979-G-C c.536-3350C>G - IntronicSNV - 3/8 1
14-64738979-G-T c.536-3350C>A - IntronicSNV - 3/8 1
14-64739505-A-G c.536-3876T>C - IntronicSNV - 3/8 1
14-64740520-C-A c.536-4891G>T - IntronicSNV - 3/8 1
14-64740520-C-T c.536-4891G>A - IntronicSNV - 3/8 1
14-64743332-C-A c.535+3367G>T - IntronicSNV - 3/8 1
14-64743332-C-T c.535+3367G>A - IntronicSNV - 3/8 1
14-64743890-T-C c.535+2809A>G - IntronicSNV - 3/8 2
14-64745002-C-T c.535+1697G>A - IntronicSNV - 3/8 1
14-64745125-C-T c.535+1574G>A - IntronicSNV - 3/8 2
14-64745179-G-C c.535+1520C>G - IntronicSNV - 3/8 4
14-64745179-G-T c.535+1520C>A - IntronicSNV - 3/8 4
14-64745399-T-A c.535+1300A>T - IntronicSNV - 3/8 1
14-64745399-T-C c.535+1300A>G - IntronicSNV - 3/8 1
14-64746024-G-A c.535+675C>T - IntronicSNV - 3/8 1
14-64746179-G-A c.535+520C>T - IntronicSNV - 3/8 26
14-64746179-G-T c.535+520C>A - IntronicSNV - 3/8 26
14-64746697-A-G c.535+2T>C - IntronicSNV - 3/8 1
14-64746702-G-A c.532C>T p.Q178* Nonsense 3/9 - 3
14-64746703-AA-CC c.530_531delinsGG p.I177R Missense 3/9 - 1
14-64746703-AA-CT c.530_531delinsAG p.I177K Missense 3/9 - 1
14-64746707-C-A c.527G>T p.S176I Missense 3/9 - 1
14-64746707-CT-TA c.526_527delinsTA p.S176Y Missense 3/9 - 1
14-64746709-TCT-ATG c.523_525delinsCAT p.R175H Missense 3/9 - 2
14-64746710-C-A c.524G>T p.R175I Missense 3/9 - 1
14-64746710-C-T c.524G>A p.R175K Missense 3/9 - 2
14-64746711-T-C c.523A>G p.R175G Missense 3/9 - 1
14-64746713-T-C c.521A>G p.K174R Missense 3/9 - 1
14-64746715-A-T c.519T>A p.F173L Missense 3/9 - 5
14-64746715-A-C c.519T>G p.F173L Missense 3/9 - 3
14-64746717-A-G c.517T>C p.F173L Missense 3/9 - 3
14-64746714-TA-T c.519del p.F173Lfs*43 Frameshift 3/9 - 1
14-64746720-A-G c.514T>C p.F172L Missense 3/9 - 1
14-64746723-C-A c.511G>T p.A171S Missense 3/9 - 1
14-64746723-C-T c.511G>A p.A171T Missense 3/9 - 1
14-64746725-T-G c.509A>C p.K170T Missense 3/9 - 1
14-64746731-C-G c.503G>C p.G168A Missense 3/9 - 1
14-64746732-C-G c.502G>C p.G168R Missense 3/9 - 2
14-64746732-C-T c.502G>A p.G168R Missense 3/9 - 7
14-64746733-TTC-ACA c.499_501delinsTGT p.E167C Missense 3/9 - 1
14-64746734-TC-CT c.499_500delinsAG p.E167R Missense 3/9 - 1
14-64746734-T-G c.500A>C p.E167A Missense 3/9 - 1
14-64746739-C-A c.495G>T p.S165= Synonymous 3/9 - 1
14-64746739-C-G c.495G>C p.S165= Synonymous 3/9 - 1
14-64746739-C-T c.495G>A p.S165= Synonymous 3/9 - 1
14-64746740-G-A c.494C>T p.S165L Missense 3/9 - 2
14-64746742-C-G c.492G>C p.W164C Missense 3/9 - 1
14-64746743-C-T c.491G>A p.W164* Nonsense 3/9 - 1
14-64746747-C-T c.487G>A p.V163I Missense 3/9 - 5
14-64746748-T-C c.486A>G p.G162= Synonymous 3/9 - 1
14-64746749-C-G c.485G>C p.G162A Missense 3/9 - 1
14-64746749-C-T c.485G>A p.G162E Missense 3/9 - 2
14-64746752-T-C c.482A>G p.Y161C Missense 3/9 - 1
14-64746754-G-T c.480C>A p.H160Q Missense 3/9 - 1
14-64746755-T-C c.479A>G p.H160R Missense 3/9 - 1
14-64746756-G-A c.478C>T p.H160Y Missense 3/9 - 1
14-64746756-TG-T c.478del p.H160Tfs*56 Frameshift 3/9 - 1
14-64746757-A-C c.477T>G p.Y159* Nonsense 3/9 - 1
14-64746757-A-T c.477T>A p.Y159* Nonsense 3/9 - 1
14-64746758-T-C c.476A>G p.Y159C Missense 3/9 - 1
14-64746760-T-A c.474A>T p.G158= Synonymous 3/9 - 1
14-64746760-T-C c.474A>G p.G158= Synonymous 3/9 - 1
14-64746760-T-G c.474A>C p.G158= Synonymous 3/9 - 2
14-64746761-C-T c.473G>A p.G158E Missense 3/9 - 5
14-64746763-C-A c.471G>T p.S157= Synonymous 3/9 - 1
14-64746763-C-G c.471G>C p.S157= Synonymous 3/9 - 1
14-64746763-CG-AC c.470_471delinsGT p.S157C Missense 3/9 - 1
14-64746763-C-T c.471G>A p.S157= Synonymous 3/9 - 1
14-64746764-G-A c.470C>T p.S157L Missense 3/9 - 3
14-64746765-A-G c.469T>C p.S157P Missense 3/9 - 1
14-64746766-T-C c.468A>G p.A156= Synonymous 3/9 - 1
14-64746768-C-A c.466G>T p.A156S Missense 3/9 - 1
14-64746770-T-C c.464A>G p.Y155C Missense 3/9 - 1
14-64746774-C-T c.460G>A p.D154N Missense 3/9 - 6
14-64746775-G-A c.459C>T p.S153= Synonymous 3/9 - 1
14-64746778-G-A c.456C>T p.C152= Synonymous 3/9 - 1
14-64746779-C-A c.455G>T p.C152F Missense 3/9 - 1
14-64746779-C-G c.455G>C p.C152S Missense 3/9 - 1
14-64746780-A-T c.454T>A p.C152S Missense 3/9 - 1
14-64746786-C-A c.448G>T p.A150S Missense 3/9 - 1
14-64746790-G-A c.444C>T p.F148= Synonymous 3/9 - 1
14-64746791-AA-GC c.442_443delinsGC p.F148A Missense 3/9 - 1
14-64746790-G-C c.444C>G p.F148L Missense 3/9 - 1
14-64746790-G-T c.444C>A p.F148L Missense 3/9 - 2
14-64746792-A-C c.442T>G p.F148V Missense 3/9 - 1
14-64746792-A-G c.442T>C p.F148L Missense 3/9 - 1
14-64746795-G-A c.439C>T p.H147Y Missense 3/9 - 5
14-64746797-G-A c.437C>T p.A146V Missense 3/9 - 1
14-64746797-G-T c.437C>A p.A146D Missense 3/9 - 2
14-64746800-T-C c.434A>G p.D145G Missense 3/9 - 3
14-64746801-C-T c.433G>A p.D145N Missense 3/9 - 2
14-64746803-C-G c.431G>C p.R144T Missense 3/9 - 1
14-64746804-T-C c.430A>G p.R144G Missense 3/9 - 1
14-64746805-C-T c.429G>A p.K143= Synonymous 3/9 - 4
14-64746809-G-A c.425C>T p.S142L Missense 3/9 - 1
14-64746811-AC-A c.422del p.G141Vfs*75 Frameshift 3/9 - 1
14-64746813-C-T c.421G>A p.G141S Missense 3/9 - 1
14-64746815-G-A c.419C>T p.P140L Missense 3/9 - 3
14-64746815-G-T c.419C>A p.P140Q Missense 3/9 - 1
14-64746818-C-A c.416G>T p.G139V Missense 3/9 - 1
14-64746820-A-C c.414T>G p.T138= Synonymous 3/9 - 2
14-64746820-A-G c.414T>C p.T138= Synonymous 3/9 - 3
14-64746820-A-T c.414T>A p.T138= Synonymous 3/9 - 2
14-64746822-T-C c.412A>G p.T138A Missense 3/9 - 1
14-64746827-G-T c.407C>A p.P136H Missense 3/9 - 1
14-64746830-CT-AA c.403_404delinsTT p.S135F Missense 3/9 - 1
14-64746831-T-A c.403A>T p.S135C Missense 3/9 - 1
14-64746834-C-T c.400G>A p.A134T Missense 3/9 - 6
14-64746835-G-A c.399C>T p.C133= Synonymous 3/9 - 1
14-64746839-C-T c.395G>A p.R132H Missense 3/9 - 5
14-64746840-G-A c.394C>T p.R132C Missense 3/9 - 4
14-64746840-G-C c.394C>G p.R132G Missense 3/9 - 1
14-64746840-G-T c.394C>A p.R132S Missense 3/9 - 1
14-64746841-G-A c.393C>T p.N131= Synonymous 3/9 - 1
14-64746842-GTTC-G c.390_392del p.N131del InFrameDeletion 3/9 - 1
14-64746845-C-T c.389G>A p.G130E Missense 3/9 - 1
14-64746847-A-C c.387T>G p.S129R Missense 3/9 - 2
14-64746847-A-T c.387T>A p.S129R Missense 3/9 - 1
14-64746849-T-G c.385A>C p.S129R Missense 3/9 - 1
14-64746849-T-C c.385A>G p.S129G Missense 3/9 - 1
14-64746852-C-G c.382G>C p.V128L Missense 3/9 - 1
14-64746857-C-T c.377G>A p.R126K Missense 3/9 - 1
14-64746863-A-G c.371T>C p.L124P Missense 3/9 - 3
14-64746864-G-A c.370C>T p.L124= Synonymous 3/9 - 2
14-64746868-C-G c.366G>C p.E122D Missense 3/9 - 1
14-64746869-TC-CA c.364_365delinsTG p.E122W Missense 3/9 - 1
14-64746870-C-G c.364G>C p.E122Q Missense 3/9 - 1
14-64746870-C-T c.364G>A p.E122K Missense 3/9 - 4
14-64746933-G-A c.363-62C>T - IntronicSNV - 2/8 1
14-64746942-A-AG c.363-72_363-71insC - IntronicInsertion - 2/8 3
14-64747170-A-G c.363-299T>C - IntronicSNV - 2/8 32
14-64747170-A-T c.363-299T>A - IntronicSNV - 2/8 32
14-64749297-G-C c.362+45C>G - IntronicSNV - 2/8 1
14-64749330-G-C c.362+12C>G - IntronicSNV - 2/8 1
14-64749332-C-A c.362+10G>T - IntronicSNV - 2/8 1
14-64749340-A-G c.362+2T>C - IntronicSNV - 2/8 2
14-64749343-T-A c.361A>T p.R121* Nonsense 2/9 - 1
14-64749344-G-A c.360C>T p.N120= Synonymous 2/9 - 1
14-64749346-T-A c.358A>T p.N120Y Missense 2/9 - 1
14-64749348-A-G c.356T>C p.V119A Missense 2/9 - 1
14-64749351-G-A c.353C>T p.P118L Missense 2/9 - 1
14-64749351-G-T c.353C>A p.P118H Missense 2/9 - 1
14-64749352-G-C c.352C>G p.P118A Missense 2/9 - 1
14-64749353-T-C c.351A>G p.L117= Synonymous 2/9 - 1
14-64749357-G-T c.347C>A p.T116N Missense 2/9 - 1
14-64749358-T-C c.346A>G p.T116A Missense 2/9 - 1
14-64749359-G-A c.345C>T p.H115= Synonymous 2/9 - 1
14-64749361-G-A c.343C>T p.H115Y Missense 2/9 - 3
14-64749364-C-T c.340G>A p.E114K Missense 2/9 - 1
14-64749366-A-G c.338T>C p.L113P Missense 2/9 - 1
14-64749369-G-A c.335C>T p.S112L Missense 2/9 - 14
14-64749369-G-GTA c.334_335insTA p.S112Lfs*3 Frameshift 2/9 - 1
14-64749369-G-T c.335C>A p.S112* Nonsense 2/9 - 3
14-64749371-TCT-ATG c.331_333delinsCAT p.R111H Missense 2/9 - 1
14-64749376-C-T c.328G>A p.A110T Missense 2/9 - 1
14-64749383-C-T c.321G>A p.W107* Nonsense 2/9 - 1
14-64749384-C-T c.320G>A p.W107* Nonsense 2/9 - 1
14-64749387-G-A c.317C>T p.P106L Missense 2/9 - 1
14-64749392-C-A c.312G>T p.K104N Missense 2/9 - 1
14-64749392-C-G c.312G>C p.K104N Missense 2/9 - 1
14-64749392-C-T c.312G>A p.K104= Synonymous 2/9 - 1
14-64749394-T-A c.310A>T p.K104* Nonsense 2/9 - 1
14-64749395-T-A c.309A>T p.Q103H Missense 2/9 - 1
14-64749395-T-G c.309A>C p.Q103H Missense 2/9 - 1
14-64749397-G-A c.307C>T p.Q103* Nonsense 2/9 - 2
14-64749400-G-A c.304C>T p.P102S Missense 2/9 - 1
14-64749400-G-T c.304C>A p.P102T Missense 2/9 - 1
14-64749405-G-A c.299C>T p.A100V Missense 2/9 - 2
14-64749406-C-T c.298G>A p.A100T Missense 2/9 - 1
14-64749408-T-C c.296A>G p.Y99C Missense 2/9 - 1
14-64749412-G-A c.292C>T p.L98= Synonymous 2/9 - 5
14-64749417-G-A c.287C>T p.S96L Missense 2/9 - 1
14-64749421-A-C c.283T>G p.L95V Missense 2/9 - 1
14-64749422-C-T c.282G>A p.Q94= Synonymous 2/9 - 2
14-64749423-T-A c.281A>T p.Q94L Missense 2/9 - 5
14-64749424-G-A c.280C>T p.Q94* Nonsense 2/9 - 1
14-64749427-G-A c.277C>T p.R93C Missense 2/9 - 10
14-64749430-G-A c.274C>T p.H92Y Missense 2/9 - 1
14-64749431-G-A c.273C>T p.V91= Synonymous 2/9 - 1
14-64749434-C-A c.270G>T p.V90= Synonymous 2/9 - 1
14-64749434-C-G c.270G>C p.V90= Synonymous 2/9 - 1
14-64749434-C-T c.270G>A p.V90= Synonymous 2/9 - 1
14-64749438-A-G c.266T>C p.L89S Missense 2/9 - 1
14-64749437-T-C c.267A>G p.L89= Synonymous 2/9 - 1
14-64749439-A-G c.265T>C p.L89= Synonymous 2/9 - 1
14-64749441-G-A c.263C>T p.P88L Missense 2/9 - 1
14-64749442-G-A c.262C>T p.P88S Missense 2/9 - 2
14-64749442-G-T c.262C>A p.P88T Missense 2/9 - 1
14-64749443-A-C c.261T>G p.S87= Synonymous 2/9 - 1
14-64749443-A-G c.261T>C p.S87= Synonymous 2/9 - 1
14-64749443-A-T c.261T>A p.S87= Synonymous 2/9 - 1
14-64749453-C-A c.251G>T p.G84V Missense 2/9 - 1
14-64749451-GC-G c.252del p.H85Tfs*5 Frameshift 2/9 - 1
14-64749455-AGG-TTA c.247_249delinsTAA p.P83* Nonsense 2/9 - 1
14-64749457-G-T c.247C>A p.P83T Missense 2/9 - 3
14-64749458-TGT-GTC c.244_246delinsGAC p.T82D Missense 2/9 - 1
14-64749465-C-T c.239G>A p.W80* Nonsense 2/9 - 1
14-64749466-A-G c.238T>C p.W80R Missense 2/9 - 1
14-64749467-C-A c.237G>T p.L79F Missense 2/9 - 1
14-64749467-C-G c.237G>C p.L79F Missense 2/9 - 1
14-64749468-A-G c.236T>C p.L79S Missense 2/9 - 3
14-64749467-C-T c.237G>A p.L79= Synonymous 2/9 - 1
14-64749469-A-G c.235T>C p.L79= Synonymous 2/9 - 1
14-64749476-TTGG-T c.226_228del p.P76del InFrameDeletion 2/9 - 1
14-64749478-G-A c.226C>T p.P76S Missense 2/9 - 1
14-64749480-CT-AA c.223_224delinsTT p.S75F Missense 2/9 - 2
14-64749481-T-C c.223A>G p.S75G Missense 2/9 - 1
14-64749482-TGT-GTC c.220_222delinsGAC p.T74D Missense 2/9 - 1
14-64749483-G-C c.221C>G p.T74R Missense 2/9 - 1
14-64749485-GG-CT c.218_219delinsAG p.T73K Missense 2/9 - 1
14-64749487-T-C c.217A>G p.T73A Missense 2/9 - 1
14-64749492-CG-TA c.211_212delinsTA p.R71* Nonsense 2/9 - 1
14-64749491-C-A c.213G>T p.R71= Synonymous 2/9 - 1
14-64749491-C-G c.213G>C p.R71= Synonymous 2/9 - 1
14-64749491-C-T c.213G>A p.R71= Synonymous 2/9 - 1
14-64749493-G-T c.211C>A p.R71= Synonymous 2/9 - 1
14-64749499-G-T c.205C>A p.P69T Missense 2/9 - 1
14-64749500-C-A c.204G>T p.G68= Synonymous 2/9 - 1
14-64749500-C-G c.204G>C p.G68= Synonymous 2/9 - 1
14-64749500-C-T c.204G>A p.G68= Synonymous 2/9 - 1
14-64749505-C-A c.199G>T p.G67C Missense 2/9 - 1
14-64749505-C-T c.199G>A p.G67S Missense 2/9 - 2
14-64749507-T-A c.197A>T p.E66V Missense 2/9 - 1
14-64749511-A-T c.193T>A p.L65M Missense 2/9 - 1
14-64749512-GTT-TTA c.190_192delinsTAA p.N64* Nonsense 2/9 - 1
14-64749513-T-A c.191A>T p.N64I Missense 2/9 - 2
14-64749519-AC-TT c.184_185delinsAA p.V62N Missense 2/9 - 1
14-64749521-A-C c.183T>G p.N61K Missense 2/9 - 1
14-64749521-A-T c.183T>A p.N61K Missense 2/9 - 1
14-64749522-T-C c.182A>G p.N61S Missense 2/9 - 1
14-64749527-G-A c.177C>T p.P59= Synonymous 2/9 - 1
14-64749527-G-C c.177C>G p.P59= Synonymous 2/9 - 1
14-64749527-G-T c.177C>A p.P59= Synonymous 2/9 - 1
14-64749531-A-G c.173T>C p.I58T Missense 2/9 - 3
14-64749533-TG-T c.171del p.S57Rfs*33 Frameshift 2/9 - 1
14-64749535-T-G c.169A>C p.S57R Missense 2/9 - 1
14-64749541-T-A c.163A>T p.N55Y Missense 2/9 - 1
14-64749542-C-A c.162G>T p.M54I Missense 2/9 - 1
14-64749542-C-G c.162G>C p.M54I Missense 2/9 - 1
14-64749542-C-T c.162G>A p.M54I Missense 2/9 - 1
14-64749544-T-A c.160A>T p.M54L Missense 2/9 - 1
14-64749547-C-A c.157G>T p.V53L Missense 2/9 - 1
14-64749547-C-G c.157G>C p.V53L Missense 2/9 - 1
14-64749548-AGC-CCA c.154_156delinsTGG p.A52W Missense 2/9 - 1
14-64749548-AGC-TTG c.154_156delinsCAA p.A52Q Missense 2/9 - 1
14-64749549-GC-CA c.154_155delinsTG p.A52C Missense 2/9 - 1
14-64749553-G-T c.151C>A p.P51T Missense 2/9 - 1
14-64749554-G-A c.150C>T p.S50= Synonymous 2/9 - 2
14-64749555-C-A c.149G>T p.S50I Missense 2/9 - 1
14-64749555-C-G c.149G>C p.S50T Missense 2/9 - 1
14-64749555-C-T c.149G>A p.S50N Missense 2/9 - 1
14-64749556-T-A c.148A>T p.S50C Missense 2/9 - 1
14-64749558-T-C c.146A>G p.Y49C Missense 2/9 - 2
14-64749560-G-C c.144C>G p.F48L Missense 2/9 - 1
14-64749563-T-A c.141A>T p.T47= Synonymous 2/9 - 1
14-64749563-T-C c.141A>G p.T47= Synonymous 2/9 - 1
14-64749563-T-G c.141A>C p.T47= Synonymous 2/9 - 1
14-64749563-TGT-GTC c.139_141delinsGAC p.T47D Missense 2/9 - 104
14-64749564-G-A c.140C>T p.T47I Missense 2/9 - 1
14-64749566-C-A c.138G>T p.M46I Missense 2/9 - 1
14-64749567-A-G c.137T>C p.M46T Missense 2/9 - 3
14-64749569-G-A c.135C>T p.A45= Synonymous 2/9 - 1
14-64749569-G-C c.135C>G p.A45= Synonymous 2/9 - 1
14-64749569-G-T c.135C>A p.A45= Synonymous 2/9 - 1
14-64749573-G-A c.131C>T p.P44L Missense 2/9 - 1
14-64749576-T-C c.128A>G p.Y43C Missense 2/9 - 2
14-64749578-TTC-CCA c.124_126delinsTGG p.E42W Missense 2/9 - 1
14-64749580-C-A c.124G>T p.E42* Nonsense 2/9 - 2
14-64749586-G-T c.118C>A p.H40N Missense 2/9 - 1
14-64749587-G-C c.117C>G p.S39R Missense 2/9 - 1
14-64749587-GCT-TCA c.115_117delinsTGA p.S39* Nonsense 2/9 - 1
14-64749587-G-T c.117C>A p.S39R Missense 2/9 - 1
14-64749588-C-T c.116G>A p.S39N Missense 2/9 - 1
14-64749588-CT-GC c.115_116delinsGC p.S39A Missense 2/9 - 1
14-64749589-T-A c.115A>T p.S39C Missense 2/9 - 1
14-64749589-T-G c.115A>C p.S39R Missense 2/9 - 3
14-64749592-C-T c.112G>A p.D38N Missense 2/9 - 1
14-64749593-TAC-GTT c.109_111delinsAAC p.V37N Missense 2/9 - 1
14-64749595-C-T c.109G>A p.V37I Missense 2/9 - 2
14-64749597-T-A c.107A>T p.Y36F Missense 2/9 - 1
14-64749598-A-G c.106T>C p.Y36H Missense 2/9 - 5
14-64749600-G-A c.104C>T p.S35F Missense 2/9 - 1
14-64749600-G-C c.104C>G p.S35C Missense 2/9 - 1
14-64749603-G-A c.101C>T p.S34F Missense 2/9 - 2
14-64749603-GA-AG c.100_101delinsCT p.S34L Missense 2/9 - 1
14-64749603-G-T c.101C>A p.S34Y Missense 2/9 - 1
14-64749604-A-G c.100T>C p.S34P Missense 2/9 - 1
14-64749606-G-A c.98C>T p.P33L Missense 2/9 - 7
14-64749607-G-A c.97C>T p.P33S Missense 2/9 - 2
14-64749607-G-T c.97C>A p.P33T Missense 2/9 - 1
14-64749612-T-C c.92A>G p.Y31C Missense 2/9 - 1
14-64749614-T-A c.90A>T p.I30= Synonymous 2/9 - 1
14-64749614-T-G c.90A>C p.I30= Synonymous 2/9 - 1
14-64749611-G-GTA c.91_92dup p.I32Tfs*7 Frameshift 2/9 - 1
14-64749618-G-A c.86C>T p.S29F Missense 2/9 - 1
14-64749621-C-T c.83G>A p.G28D Missense 2/9 - 1
14-64749623-G-A c.81C>T p.H27= Synonymous 2/9 - 3
14-64749624-T-C c.80A>G p.H27R Missense 2/9 - 1
14-64749628-C-A c.76G>T p.E26* Nonsense 2/9 - 1
14-64749628-C-G c.76G>C p.E26Q Missense 2/9 - 1
14-64749633-G-A c.71C>T p.P24L Missense 2/9 - 1
14-64749635-T-C c.69A>G p.L23= Synonymous 2/9 - 1
14-64749636-AA-GC c.67_68delinsGC p.L23A Missense 2/9 - 2
14-64749639-AT-GC c.64_65delinsGC p.I22A Missense 2/9 - 1
14-64749640-T-A c.64A>T p.I22F Missense 2/9 - 2
14-64749640-T-C c.64A>G p.I22V Missense 2/9 - 6
14-64749641-G-T c.63C>A p.S21= Synonymous 2/9 - 1
14-64749642-G-A c.62C>T p.S21F Missense 2/9 - 1
14-64749642-G-C c.62C>G p.S21C Missense 2/9 - 2
14-64749643-A-C c.61T>G p.S21A Missense 2/9 - 3
14-64749648-CT-GC c.55_56delinsGC p.S19A Missense 2/9 - 2
14-64749649-T-C c.55A>G p.S19G Missense 2/9 - 1
14-64749650-GCA-CTC c.52_54delinsGAG p.C18E Missense 2/9 - 1
14-64749651-C-A c.53G>T p.C18F Missense 2/9 - 1
14-64749651-C-G c.53G>C p.C18S Missense 2/9 - 1
14-64749652-A-C c.52T>G p.C18G Missense 2/9 - 1
14-64749652-A-G c.52T>C p.C18R Missense 2/9 - 1
14-64749653-G-A c.51C>T p.N17= Synonymous 2/9 - 2
14-64749653-G-C c.51C>G p.N17K Missense 2/9 - 3
14-64749653-G-T c.51C>A p.N17K Missense 2/9 - 1
14-64749654-T-C c.50A>G p.N17S Missense 2/9 - 1
14-64749658-A-C c.46T>G p.Y16D Missense 2/9 - 1
14-64749659-GGA-CTC c.43_45delinsGAG p.S15E Missense 2/9 - 1
14-64749660-GA-TC c.43_44inv p.S15D Missense 2/9 - 1
14-64749660-G-C c.44C>G p.S15C Missense 2/9 - 3
14-64749661-A-C c.43T>G p.S15A Missense 2/9 - 11
14-64749662-G-A c.42C>T p.S14= Synonymous 2/9 - 2
14-64749662-G-C c.42C>G p.S14= Synonymous 2/9 - 2
14-64749662-GGA-CTC c.40_42delinsGAG p.S14E Missense 2/9 - 1
14-64749662-G-T c.42C>A p.S14= Synonymous 2/9 - 3
14-64749663-G-A c.41C>T p.S14F Missense 2/9 - 5
14-64749663-GA-TC c.40_41inv p.S14D Missense 2/9 - 1
14-64749663-G-C c.41C>G p.S14C Missense 2/9 - 2
14-64749664-A-C c.40T>G p.S14A Missense 2/9 - 9
14-64749665-AGG-CTT c.37_39delinsAAG p.P13K Missense 2/9 - 18
14-64749666-GG-AT c.37_38delinsAT p.P13I Missense 2/9 - 1
14-64749666-G-T c.38C>A p.P13H Missense 2/9 - 1
14-64749668-AGA-CTC c.34_36delinsGAG p.S12E Missense 2/9 - 1
14-64749669-G-A c.35C>T p.S12F Missense 2/9 - 1
14-64749669-GA-CC c.34_35delinsGG p.S12G Missense 2/9 - 1
14-64749669-GA-TC c.34_35inv p.S12D Missense 2/9 - 2
14-64749669-G-C c.35C>G p.S12C Missense 2/9 - 3
14-64749670-A-C c.34T>G p.S12A Missense 2/9 - 10
14-64749669-G-GA c.34dup p.S12Ffs*31 Frameshift 2/9 - 1
14-64749672-TT-GC c.31_32delinsGC p.N11A Missense 2/9 - 1
14-64749672-TT-GG c.31_32delinsCC p.N11P Missense 2/9 - 1
14-64749675-A-G c.29T>C p.L10P Missense 2/9 - 1
14-64749675-AG-GC c.28_29delinsGC p.L10A Missense 2/9 - 3
14-64749676-G-A c.28C>T p.L10F Missense 2/9 - 1
14-64749677-G-A c.27C>T p.S9= Synonymous 2/9 - 1
14-64749678-C-A c.26G>T p.S9I Missense 2/9 - 2
14-64749678-C-T c.26G>A p.S9N Missense 2/9 - 1
14-64749679-T-C c.25A>G p.S9G Missense 2/9 - 1
14-64749681-G-T c.23C>A p.S8Y Missense 2/9 - 1
14-64749684-G-T c.20C>A p.P7Q Missense 2/9 - 1
14-64749687-G-A c.17C>T p.S6L Missense 2/9 - 1
14-64749687-G-T c.17C>A p.S6* Nonsense 2/9 - 2
14-64749688-A-C c.16T>G p.S6A Missense 2/9 - 2
14-64749690-T-C c.14A>G p.N5S Missense 2/9 - 1
14-64749695-T-C c.9A>G p.I3M Missense 2/9 - 1
14-64749697-T-C c.7A>G p.I3V Missense 2/9 - 1
14-64749698-A-G c.6T>C p.D2= Synonymous 2/9 - 3
14-64749699-T-C c.5A>G p.D2G Missense 2/9 - 1
14-64749700-C-T c.4G>A p.D2N Missense 2/9 - 3
14-64749703-T-C c.1A>G p.M1? Missense 2/9 - 1
14-64749762-T-C c.-59A>G - 5-UTRSNV 2/9 - 1
14-64749818-G-A c.-115C>T - IntronicSNV 1/9 - 1
14-64751372-G-T c.-90-1579C>A - IntronicSNV - 1/8 1
14-64754361-G-C c.-90-4568C>G - IntronicSNV - 1/8 2
14-64754361-G-T c.-90-4568C>A - IntronicSNV - 1/8 2
14-64756751-G-A c.-91+4000C>T - intron_variant - 1/8 4
14-64758876-C-T c.-91+1875G>A - intron_variant - 1/8 5
14-64759419-T-C c.-91+1332A>G - intron_variant - 1/8 9
14-64760611-C-A c.-91+140G>T - intron_variant - 1/8 9