KRT6B

KRT6B keratin 6B

Annotation transcript: NM_005555.4

766 unique variant annotations were identified in 384 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
12-52840977-G-A c.1692C>T p.H564= Synonymous 9/9 - 1
12-52840977-G-T c.1692C>A p.H564Q Missense 9/9 - 1
12-52840987-C-G c.1682G>C p.S561T Missense 9/9 - 2
12-52840988-T-C c.1681A>G p.S561G Missense 9/9 - 1
12-52840992-C-T c.1677G>A p.R559= Synonymous 9/9 - 5
12-52840994-T-A c.1675A>T p.R559W Missense 9/9 - 1
12-52840996-C-A c.1673G>T p.S558I Missense 9/9 - 1
12-52841002-G-T c.1667C>A p.S556Y Missense 9/9 - 1
12-52841004-G-A c.1665C>T p.S555= Synonymous 9/9 - 1
12-52841005-G-GC c.1663_1664insG p.S555Cfs*50 Frameshift 9/9 - 1
12-52841006-A-T c.1663T>A p.S555T Missense 9/9 - 2
12-52841007-G-A c.1662C>T p.T554= Synonymous 9/9 - 4
12-52841008-G-T c.1661C>A p.T554N Missense 9/9 - 1
12-52841009-T-C c.1660A>G p.T554A Missense 9/9 - 4
12-52841011-G-T c.1658C>A p.T553N Missense 9/9 - 1
12-52841014-G-A c.1655C>T p.T552I Missense 9/9 - 1
12-52841022-G-A c.1647C>T p.I549= Synonymous 9/9 - 2
12-52841022-G-C c.1647C>G p.I549M Missense 9/9 - 1
12-52841024-T-C c.1645A>G p.I549V Missense 9/9 - 1
12-52841025-G-T c.1644C>A p.T548= Synonymous 9/9 - 1
12-52841028-G-A c.1641C>T p.S547= Synonymous 9/9 - 1
12-52841028-G-C c.1641C>G p.S547= Synonymous 9/9 - 1
12-52841028-G-T c.1641C>A p.S547= Synonymous 9/9 - 1
12-52841029-G-T c.1640C>A p.S547Y Missense 9/9 - 1
12-52841032-C-T c.1637G>A p.S546N Missense 9/9 - 1
12-52841033-T-G c.1636A>C p.S546R Missense 9/9 - 3
12-52841037-G-A c.1632C>T p.G544= Synonymous 9/9 - 3
12-52841038-C-G c.1631G>C p.G544A Missense 9/9 - 1
12-52841039-C-T c.1630G>A p.G544S Missense 9/9 - 1
12-52841041-C-T c.1628G>A p.G543E Missense 9/9 - 1
12-52841044-A-G c.1625T>C p.V542A Missense 9/9 - 3
12-52841045-C-A c.1624G>T p.V542F Missense 9/9 - 1
12-52841045-C-T c.1624G>A p.V542I Missense 9/9 - 1
12-52841054-G-A c.1615C>T p.L539F Missense 9/9 - 1
12-52841060-C-T c.1609G>A p.G537S Missense 9/9 - 1
12-52841063-C-T c.1606G>A p.G536R Missense 9/9 - 2
12-52841065-G-A c.1604C>T p.T535I Missense 9/9 - 2
12-52841071-C-T c.1598G>A p.R533K Missense 9/9 - 3
12-52841075-C-T c.1594G>A p.G532S Missense 9/9 - 2
12-52841076-G-A c.1593C>T p.S531= Synonymous 9/9 - 1
12-52841076-G-T c.1593C>A p.S531R Missense 9/9 - 2
12-52841079-G-C c.1590C>G p.S530R Missense 9/9 - 1
12-52841079-G-T c.1590C>A p.S530R Missense 9/9 - 1
12-52841081-T-G c.1588A>C p.S530R Missense 9/9 - 1
12-52841082-G-A c.1587C>T p.S529= Synonymous 9/9 - 1
12-52841083-G-A c.1586C>T p.S529F Missense 9/9 - 2
12-52841088-A-G c.1581T>C p.F527= Synonymous 9/9 - 2
12-52841091-G-A c.1578C>T p.G526= Synonymous 9/9 - 1
12-52841092-C-T c.1577G>A p.G526D Missense 9/9 - 1
12-52841096-C-A c.1573G>T p.G525C Missense 9/9 - 2
12-52841097-T-A c.1572A>T p.G524= Synonymous 9/9 - 1
12-52841097-T-C c.1572A>G p.G524= Synonymous 9/9 - 1
12-52841097-T-G c.1572A>C p.G524= Synonymous 9/9 - 1
12-52841098-C-T c.1571G>A p.G524E Missense 9/9 - 1
12-52841100-AAC-CAT c.1567_1569delinsATG p.V523M Missense 9/9 - 2
12-52841102-C-T c.1567G>A p.V523I Missense 9/9 - 3
12-52841105-C-T c.1564G>A p.G522S Missense 9/9 - 1
12-52841109-A-C c.1560T>G p.G520= Synonymous 9/9 - 1
12-52841109-A-G c.1560T>C p.G520= Synonymous 9/9 - 1
12-52841109-A-T c.1560T>A p.G520= Synonymous 9/9 - 1
12-52841112-A-G c.1557T>C p.S519= Synonymous 9/9 - 3
12-52841115-G-A c.1554C>T p.G518= Synonymous 9/9 - 1
12-52841115-GC-CT c.1553_1554delinsAG p.G518E Missense 9/9 - 2
12-52841116-C-A c.1553G>T p.G518V Missense 9/9 - 3
12-52841116-C-G c.1553G>C p.G518A Missense 9/9 - 1
12-52841116-C-T c.1553G>A p.G518D Missense 9/9 - 1
12-52841117-C-A c.1552G>T p.G518C Missense 9/9 - 1
12-52841118-A-C c.1551T>G p.Y517* Nonsense 9/9 - 1
12-52841119-T-A c.1550A>T p.Y517F Missense 9/9 - 2
12-52841119-T-C c.1550A>G p.Y517C Missense 9/9 - 1
12-52841120-A-G c.1549T>C p.Y517H Missense 9/9 - 1
12-52841120-A-T c.1549T>A p.Y517N Missense 9/9 - 4
12-52841121-G-A c.1548C>T p.S516= Synonymous 9/9 - 2
12-52841130-G-A c.1539C>T p.S513= Synonymous 9/9 - 2
12-52841131-C-T c.1538G>A p.S513N Missense 9/9 - 1
12-52841132-T-C c.1537A>G p.S513G Missense 9/9 - 4
12-52841135-C-A c.1534G>T p.G512* Nonsense 9/9 - 1
12-52841137-C-T c.1532G>A p.G511E Missense 9/9 - 4
12-52841141-C-A c.1528G>T p.G510C Missense 9/9 - 3
12-52841142-C-T c.1527G>A p.L509= Synonymous 9/9 - 3
12-52841145-G-C c.1524C>G p.G508= Synonymous 9/9 - 1
12-52841147-C-T c.1522G>A p.G508S Missense 9/9 - 1
12-52841148-T-C c.1521A>G p.L507= Synonymous 9/9 - 1
12-52841151-G-A c.1518C>T p.G506= Synonymous 9/9 - 4
12-52841155-C-A c.1514G>T p.S505I Missense 9/9 - 2
12-52841157-G-A c.1512C>T p.G504= Synonymous 9/9 - 2
12-52841157-G-C c.1512C>G p.G504= Synonymous 9/9 - 1
12-52841157-G-T c.1512C>A p.G504= Synonymous 9/9 - 1
12-52841159-C-A c.1510G>T p.G504C Missense 9/9 - 3
12-52841159-C-T c.1510G>A p.G504S Missense 9/9 - 2
12-52841160-G-A c.1509C>T p.V503= Synonymous 9/9 - 2
12-52841165-C-T c.1504G>A p.G502S Missense 9/9 - 2
12-52841166-G-A c.1503C>T p.S501= Synonymous 9/9 - 1
12-52841168-T-C c.1501A>G p.S501G Missense 9/9 - 1
12-52841174-C-A c.1495G>T p.G499C Missense 9/9 - 2
12-52841174-C-T c.1495G>A p.G499S Missense 9/9 - 10
12-52841175-G-A c.1494C>T p.G498= Synonymous 9/9 - 6
12-52841175-G-C c.1494C>G p.G498= Synonymous 9/9 - 3
12-52841175-G-T c.1494C>A p.G498= Synonymous 9/9 - 5
12-52841178-A-G c.1491T>C p.Y497= Synonymous 9/9 - 1
12-52841179-T-C c.1490A>G p.Y497C Missense 9/9 - 8
12-52841181-G-A c.1488C>T p.G496= Synonymous 9/9 - 1
12-52841181-G-C c.1488C>G p.G496= Synonymous 9/9 - 1
12-52841181-G-T c.1488C>A p.G496= Synonymous 9/9 - 1
12-52841182-C-G c.1487G>C p.G496A Missense 9/9 - 1
12-52841183-C-T c.1486G>A p.G496S Missense 9/9 - 1
12-52841185-C-A c.1484G>T p.S495I Missense 9/9 - 1
12-52841189-A-G c.1480T>C p.S494P Missense 9/9 - 1
12-52841190-G-A c.1479C>T p.V493= Synonymous 9/9 - 1
12-52841192-C-T c.1477G>A p.V493I Missense 9/9 - 6
12-52841193-G-A c.1476C>T p.T492= Synonymous 9/9 - 2
12-52841193-G-C c.1476C>G p.T492= Synonymous 9/9 - 1
12-52841193-G-T c.1476C>A p.T492= Synonymous 9/9 - 1
12-52841196-G-A c.1473C>T p.S491= Synonymous 9/9 - 2
12-52841197-G-A c.1472C>T p.S491F Missense 9/9 - 1
12-52841205-T-A c.1464A>T p.V488= Synonymous 9/9 - 1
12-52841206-A-C c.1463T>G p.V488G Missense 9/9 - 1
12-52841207-C-T c.1462G>A p.V488I Missense 9/9 - 1
12-52841324-G-A c.1458C>T p.I486= Synonymous 8/9 - 1
12-52841341-C-T c.1441G>A p.V481I Missense 8/9 - 1
12-52841342-G-A c.1440C>T p.G480= Synonymous 8/9 - 2
12-52841342-G-C c.1440C>G p.G480= Synonymous 8/9 - 2
12-52841342-G-T c.1440C>A p.G480= Synonymous 8/9 - 2
12-52841344-C-T c.1438G>A p.G480S Missense 8/9 - 1
12-52841347-C-T c.1435G>A p.E479K Missense 8/9 - 3
12-52841348-G-A c.1434C>T p.G478= Synonymous 8/9 - 5
12-52841348-G-C c.1434C>G p.G478= Synonymous 8/9 - 3
12-52841348-G-T c.1434C>A p.G478= Synonymous 8/9 - 3
12-52841354-C-A c.1428G>T p.L476= Synonymous 8/9 - 1
12-52841354-C-G c.1428G>C p.L476= Synonymous 8/9 - 1
12-52841354-C-T c.1428G>A p.L476= Synonymous 8/9 - 2
12-52841356-G-A c.1426C>T p.L476= Synonymous 8/9 - 2
12-52841565-C-T c.1421G>A p.C474Y Missense 7/9 - 3
12-52841565-C-G c.1421G>C p.C474S Missense 7/9 - 1
12-52841566-A-T c.1420T>A p.C474S Missense 7/9 - 1
12-52841569-C-G c.1417G>C p.E473Q Missense 7/9 - 1
12-52841571-T-TGGAGGGCGAGGAGTGCAGGTGGGTAACTGA c.1414_1415insTCAGTTACCCACCTGCACTCCTCGCCCTCC p.E472delinsVSYPPALLALQ MultiAAMissense 7/9 - 1
12-52841572-C-T c.1414G>A p.E472K Missense 7/9 - 9
12-52841573-G-A c.1413C>T p.G471= Synonymous 7/9 - 3
12-52841573-G-C c.1413C>G p.G471= Synonymous 7/9 - 1
12-52841573-G-T c.1413C>A p.G471= Synonymous 7/9 - 1
12-52841574-C-CGACTT c.1411_1412insAAGTC p.G471Efs*8 Frameshift 7/9 - 1
12-52841574-C-T c.1412G>A p.G471D Missense 7/9 - 2
12-52841575-C-A c.1411G>T p.G471C Missense 7/9 - 1
12-52841578-C-T c.1408G>A p.E470K Missense 7/9 - 1
12-52841580-A-C c.1406T>G p.L469R Missense 7/9 - 1
12-52841585-C-A c.1401G>T p.K467N Missense 7/9 - 1
12-52841588-GC-TT c.1397_1398delinsAA p.R466Q Missense 7/9 - 1
12-52841589-C-T c.1397G>A p.R466H Missense 7/9 - 2
12-52841590-G-A c.1396C>T p.R466C Missense 7/9 - 2
12-52841590-G-T c.1396C>A p.R466S Missense 7/9 - 1
12-52841593-A-G c.1393T>C p.Y465H Missense 7/9 - 1
12-52841594-G-A c.1392C>T p.T464= Synonymous 7/9 - 2
12-52841594-G-C c.1392C>G p.T464= Synonymous 7/9 - 2
12-52841594-G-T c.1392C>A p.T464= Synonymous 7/9 - 3
12-52841599-C-A c.1387G>T p.A463S Missense 7/9 - 1
12-52841599-C-T c.1387G>A p.A463T Missense 7/9 - 4
12-52841600-G-A c.1386C>T p.I462= Synonymous 7/9 - 5
12-52841600-G-T c.1386C>A p.I462= Synonymous 7/9 - 3
12-52841601-AT-CA c.1384_1385delinsTG p.I462C Missense 7/9 - 1
12-52841605-C-T c.1381G>A p.E461K Missense 7/9 - 3
12-52841607-A-C c.1379T>G p.V460G Missense 7/9 - 5
12-52841608-C-T c.1378G>A p.V460M Missense 7/9 - 1
12-52841609-A-G c.1377T>C p.D459= Synonymous 7/9 - 1
12-52841611-C-T c.1375G>A p.D459N Missense 7/9 - 2
12-52841622-T-A c.1364A>T p.K455M Missense 7/9 - 1
12-52841623-T-C c.1363A>G p.K455E Missense 7/9 - 1
12-52841626-C-T c.1360G>A p.V454I Missense 7/9 - 1
12-52841627-G-A c.1359C>T p.N453= Synonymous 7/9 - 1
12-52841631-A-G c.1355T>C p.M452T Missense 7/9 - 1
12-52841638-C-A c.1348G>T p.E450* Nonsense 7/9 - 1
12-52841641-G-C c.1345C>G p.Q449E Missense 7/9 - 1
12-52841642-G-A c.1344C>T p.Y448= Synonymous 7/9 - 1
12-52841647-C-T c.1339G>A p.E447K Missense 7/9 - 5
12-52841657-C-T c.1329G>A p.R443= Synonymous 7/9 - 2
12-52841658-C-G c.1328G>C p.R443P Missense 7/9 - 2
12-52841658-C-T c.1328G>A p.R443Q Missense 7/9 - 3
12-52841659-G-A c.1327C>T p.R443W Missense 7/9 - 4
12-52841665-G-T c.1321C>A p.L441M Missense 7/9 - 1
12-52841666-G-A c.1320C>T p.D440= Synonymous 7/9 - 2
12-52841668-C-T c.1318G>A p.D440N Missense 7/9 - 3
12-52841671-G-T c.1315C>A p.Q439K Missense 7/9 - 6
12-52841672-C-T c.1314G>A p.K438= Synonymous 7/9 - 9
12-52841673-T-C c.1313A>G p.K438R Missense 7/9 - 1
12-52841678-C-T c.1308G>A p.K436= Synonymous 7/9 - 1
12-52841688-G-C c.1298C>G p.A433G Missense 7/9 - 1
12-52841688-G-T c.1298C>A p.A433D Missense 7/9 - 1
12-52841699-C-A c.1287G>T p.G429= Synonymous 7/9 - 1
12-52841699-CCC-GCT c.1285_1287delinsAGC p.G429S Missense 7/9 - 1
12-52841699-C-G c.1287G>C p.G429= Synonymous 7/9 - 1
12-52841699-C-T c.1287G>A p.G429= Synonymous 7/9 - 1
12-52841704-C-T c.1282G>A p.E428K Missense 7/9 - 5
12-52841708-C-T c.1278G>A p.K426= Synonymous 7/9 - 1
12-52841709-T-G c.1277A>C p.K426T Missense 7/9 - 2
12-52841711-G-T c.1275C>A p.N425K Missense 7/9 - 1
12-52841719-C-A c.1267G>T p.A423S Missense 7/9 - 1
12-52841725-T-C c.1261A>G p.K421E Missense 7/9 - 1
12-52841726-G-A c.1260C>T p.L420= Synonymous 7/9 - 1
12-52841726-G-C c.1260C>G p.L420= Synonymous 7/9 - 1
12-52841726-G-T c.1260C>A p.L420= Synonymous 7/9 - 1
12-52841730-G-T c.1256C>A p.A419D Missense 7/9 - 1
12-52841731-C-A c.1255G>T p.A419S Missense 7/9 - 1
12-52841732-C-A c.1254G>T p.M418I Missense 7/9 - 1
12-52841735-C-G c.1251G>C p.E417D Missense 7/9 - 1
12-52841737-C-T c.1249G>A p.E417K Missense 7/9 - 2
12-52841738-C-T c.1248G>A p.G416= Synonymous 7/9 - 2
12-52841739-C-G c.1247G>C p.G416A Missense 7/9 - 1
12-52841740-C-A c.1246G>T p.G416W Missense 7/9 - 1
12-52841742-C-T c.1244G>A p.R415H Missense 7/9 - 3
12-52841743-G-A c.1243C>T p.R415C Missense 7/9 - 7
12-52841743-G-T c.1243C>A p.R415S Missense 7/9 - 2
12-52841747-C-T c.1239G>A p.E413= Synonymous 7/9 - 1
12-52841752-C-T c.1234G>A p.A412T Missense 7/9 - 1
12-52841755-C-T c.1231G>A p.D411N Missense 7/9 - 1
12-52841756-A-C c.1230T>G p.A410= Synonymous 7/9 - 1
12-52841756-A-G c.1230T>C p.A410= Synonymous 7/9 - 1
12-52841756-A-T c.1230T>A p.A410= Synonymous 7/9 - 1
12-52841757-G-A c.1229C>T p.A410V Missense 7/9 - 2
12-52841763-GC-AG c.1222_1223delinsCT p.A408L Missense 7/9 - 1
12-52841765-G-A c.1221C>T p.A407= Synonymous 7/9 - 22
12-52841765-G-C c.1221C>G p.A407= Synonymous 7/9 - 17
12-52841765-G-T c.1221C>A p.A407= Synonymous 7/9 - 2
12-52841769-T-C c.1217A>G p.Q406R Missense 7/9 - 2
12-52841771-T-C c.1215A>G p.L405= Synonymous 7/9 - 1
12-52841775-T-C c.1211A>G p.N404S Missense 7/9 - 1
12-52841776-T-A c.1210A>T p.N404Y Missense 7/9 - 2
12-52841780-A-G c.1206T>C p.C402= Synonymous 7/9 - 1
12-52841782-A-C c.1204T>G p.C402G Missense 7/9 - 1
12-52842573-C-T c.1203+53G>A - IntronicSNV - 6/8 1
12-52842584-A-T c.1203+42T>A - IntronicSNV - 6/8 1
12-52842583-TA-T c.1203+42del - IntronicDeletion - 6/8 1
12-52842603-T-A c.1203+23A>T - IntronicSNV - 6/8 1
12-52842628-G-T c.1201C>A p.Q401K Missense 6/9 - 1
12-52842629-C-A c.1200G>T p.K400N Missense 6/9 - 3
12-52842629-C-G c.1200G>C p.K400N Missense 6/9 - 2
12-52842631-T-C c.1198A>G p.K400E Missense 6/9 - 1
12-52842632-C-T c.1197G>A p.K399= Synonymous 6/9 - 1
12-52842634-T-C c.1195A>G p.K399E Missense 6/9 - 1
12-52842638-G-A c.1191C>T p.H397= Synonymous 6/9 - 2
12-52842643-C-T c.1186G>A p.D396N Missense 6/9 - 12
12-52842644-G-A c.1185C>T p.I395= Synonymous 6/9 - 7
12-52842644-G-T c.1185C>A p.I395= Synonymous 6/9 - 5
12-52842654-C-A c.1175G>T p.R392I Missense 6/9 - 5
12-52842658-G-A c.1171C>T p.L391= Synonymous 6/9 - 1
12-52842661-T-A c.1168A>T p.R390W Missense 6/9 - 1
12-52842662-C-A c.1167G>T p.Q389H Missense 6/9 - 2
12-52842662-C-G c.1167G>C p.Q389H Missense 6/9 - 1
12-52842665-G-A c.1164C>T p.I388= Synonymous 6/9 - 3
12-52842665-G-T c.1164C>A p.I388= Synonymous 6/9 - 1
12-52842668-C-T c.1161G>A p.M387I Missense 6/9 - 1
12-52842670-T-C c.1159A>G p.M387V Missense 6/9 - 1
12-52842673-G-A c.1156C>T p.R386C Missense 6/9 - 6
12-52842674-G-A c.1155C>T p.N385= Synonymous 6/9 - 1
12-52842675-T-A c.1154A>T p.N385I Missense 6/9 - 1
12-52842677-G-A c.1152C>T p.I384= Synonymous 6/9 - 1
12-52842679-T-G c.1150A>C p.I384L Missense 6/9 - 1
12-52842682-C-G c.1147G>C p.E383Q Missense 6/9 - 1
12-52842689-C-T c.1140G>A p.E380= Synonymous 6/9 - 1
12-52842695-C-T c.1134G>A p.K378= Synonymous 6/9 - 1
12-52842698-G-A c.1131C>T p.T377= Synonymous 6/9 - 2
12-52842706-G-A c.1123C>T p.R375C Missense 6/9 - 1
12-52842712-C-T c.1117G>A p.D373N Missense 6/9 - 1
12-52842713-G-A c.1116C>T p.D372= Synonymous 6/9 - 2
12-52842717-C-T c.1112G>A p.G371E Missense 6/9 - 1
12-52842718-C-G c.1111G>C p.G371R Missense 6/9 - 1
12-52842718-C-T c.1111G>A p.G371R Missense 6/9 - 1
12-52842734-G-A c.1095C>T p.I365= Synonymous 6/9 - 3
12-52842734-G-T c.1095C>A p.I365= Synonymous 6/9 - 1
12-52842736-T-C c.1093A>G p.I365V Missense 6/9 - 29
12-52842747-T-C c.1082A>G p.E361G Missense 6/9 - 4
12-52842748-C-A c.1081G>T p.E361* Nonsense 6/9 - 2
12-52842748-C-T c.1081G>A p.E361K Missense 6/9 - 1
12-52842762-G-A c.1078-11C>T - IntronicSNV - 5/8 1
12-52842830-A-C c.1078-79T>G - IntronicSNV - 5/8 1
12-52843112-T-C c.1077+141A>G - IntronicSNV - 5/8 1
12-52843232-G-A c.1077+21C>T - IntronicSNV - 5/8 1
12-52843237-T-C c.1077+16A>G - IntronicSNV - 5/8 1
12-52843253-C-T c.1077G>A p.K359= Synonymous 5/9 - 1
12-52843256-T-A c.1074A>T p.T358= Synonymous 5/9 - 1
12-52843256-T-C c.1074A>G p.T358= Synonymous 5/9 - 1
12-52843256-T-G c.1074A>C p.T358= Synonymous 5/9 - 1
12-52843260-T-G c.1070A>C p.Q357P Missense 5/9 - 1
12-52843261-G-A c.1069C>T p.Q357* Nonsense 5/9 - 3
12-52843265-C-T c.1065G>A p.W355* Nonsense 5/9 - 1
12-52843266-C-T c.1064G>A p.W355* Nonsense 5/9 - 1
12-52843267-A-AG c.1062dup p.W355Lfs*29 Frameshift 5/9 - 1
12-52843271-C-T c.1059G>A p.E353= Synonymous 5/9 - 1
12-52843272-T-A c.1058A>T p.E353V Missense 5/9 - 1
12-52843273-C-G c.1057G>C p.E353Q Missense 5/9 - 1
12-52843274-A-T c.1056T>A p.A352= Synonymous 5/9 - 1
12-52843279-C-G c.1051G>C p.E351Q Missense 5/9 - 1
12-52843280-A-T c.1050T>A p.A350= Synonymous 5/9 - 1
12-52843282-C-A c.1048G>T p.A350S Missense 5/9 - 1
12-52843282-C-T c.1048G>A p.A350T Missense 5/9 - 1
12-52843283-C-T c.1047G>A p.R349= Synonymous 5/9 - 2
12-52843285-T-C c.1045A>G p.R349G Missense 5/9 - 1
12-52843285-T-G c.1045A>C p.R349= Synonymous 5/9 - 2
12-52843290-C-T c.1040G>A p.R347K Missense 5/9 - 1
12-52843297-C-G c.1033G>C p.A345P Missense 5/9 - 1
12-52843300-T-C c.1030A>G p.I344V Missense 5/9 - 1
12-52843303-C-T c.1027G>A p.E343K Missense 5/9 - 4
12-52843306-C-T c.1024G>A p.E342K Missense 5/9 - 5
12-52843307-A-G c.1023T>C p.Y341= Synonymous 5/9 - 3
12-52843313-G-A c.1017C>T p.A339= Synonymous 5/9 - 1
12-52843313-G-C c.1017C>G p.A339= Synonymous 5/9 - 1
12-52843313-G-T c.1017C>A p.A339= Synonymous 5/9 - 1
12-52843315-C-A c.1015G>T p.A339S Missense 5/9 - 1
12-52843317-T-C c.1013A>G p.K338R Missense 5/9 - 1
12-52843322-C-A c.1008G>T p.E336D Missense 5/9 - 1
12-52843324-C-T c.1006G>A p.E336K Missense 5/9 - 1
12-52843327-C-T c.1003G>A p.A335T Missense 5/9 - 2
12-52843335-C-G c.995G>C p.S332T Missense 5/9 - 6
12-52843335-C-T c.995G>A p.S332N Missense 5/9 - 5
12-52843339-C-T c.991G>A p.D331N Missense 5/9 - 2
12-52843340-C-A c.990G>T p.L330= Synonymous 5/9 - 1
12-52843340-C-G c.990G>C p.L330= Synonymous 5/9 - 1
12-52843340-C-T c.990G>A p.L330= Synonymous 5/9 - 1
12-52843342-G-A c.988C>T p.L330= Synonymous 5/9 - 2
12-52843348-G-T c.982C>A p.L328M Missense 5/9 - 1
12-52843349-G-A c.981C>T p.N327= Synonymous 5/9 - 1
12-52843350-T-A c.980A>T p.N327I Missense 5/9 - 2
12-52843350-T-C c.980A>G p.N327S Missense 5/9 - 1
12-52843350-T-G c.980A>C p.N327T Missense 5/9 - 1
12-52843352-GC-TT c.977_978delinsAA p.R326Q Missense 5/9 - 1
12-52843353-C-T c.977G>A p.R326H Missense 5/9 - 1
12-52843354-G-A c.976C>T p.R326C Missense 5/9 - 4
12-52843356-T-A c.974A>T p.N325I Missense 5/9 - 1
12-52843359-T-G c.971A>C p.N324T Missense 5/9 - 1
12-52843361-G-T c.969C>A p.D323E Missense 5/9 - 1
12-52843363-C-G c.967G>C p.D323H Missense 5/9 - 4
12-52843364-C-T c.966G>A p.M322I Missense 5/9 - 2
12-52843366-T-A c.964A>T p.M322L Missense 5/9 - 1
12-52843367-G-A c.963C>T p.S321= Synonymous 5/9 - 1
12-52843368-G-C c.962C>G p.S321C Missense 5/9 - 1
12-52843368-GGA-G c.961_962del p.S321Hfs*15 Frameshift 5/9 - 1
12-52843369-A-T c.961T>A p.S321T Missense 5/9 - 1
12-52843374-A-C c.956T>G p.V319G Missense 5/9 - 1
12-52843378-C-T c.952G>A p.V318M Missense 5/9 - 1
12-52843379-G-A c.951C>T p.S317= Synonymous 5/9 - 1
12-52843380-G-T c.950C>A p.S317Y Missense 5/9 - 2
12-52843381-A-C c.949T>G p.S317A Missense 5/9 - 1
12-52843383-G-T c.947C>A p.T316K Missense 5/9 - 2
12-52843388-TGA-GTT c.940_942delinsAAC p.S314N Missense 5/9 - 1
12-52843391-G-A c.939C>T p.I313= Synonymous 5/9 - 2
12-52843391-G-T c.939C>A p.I313= Synonymous 5/9 - 2
12-52843396-G-A c.934C>T p.H312Y Missense 5/9 - 2
12-52843403-C-A c.927G>T p.M309I Missense 5/9 - 1
12-52843403-C-G c.927G>C p.M309I Missense 5/9 - 1
12-52843403-C-T c.927G>A p.M309I Missense 5/9 - 1
12-52843410-G-A c.920C>T p.S307F Missense 5/9 - 1
12-52843414-G-A c.916C>T p.L306= Synonymous 5/9 - 1
12-52843414-G-T c.916C>A p.L306M Missense 5/9 - 1
12-52843530-G-A c.912+12C>T - IntronicSNV - 4/8 1
12-52843534-T-A c.912+8A>T - IntronicSNV - 4/8 3
12-52843534-T-C c.912+8A>G - IntronicSNV - 4/8 3
12-52843542-T-A c.912A>T p.A304= Synonymous 4/9 - 1
12-52843542-T-C c.912A>G p.A304= Synonymous 4/9 - 1
12-52843542-T-G c.912A>C p.A304= Synonymous 4/9 - 1
12-52843547-C-G c.907G>C p.D303H Missense 4/9 - 1
12-52843560-C-G c.894G>C p.L298= Synonymous 4/9 - 2
12-52843562-G-A c.892C>T p.L298= Synonymous 4/9 - 2
12-52843562-G-T c.892C>A p.L298M Missense 4/9 - 3
12-52843563-G-T c.891C>A p.F297L Missense 4/9 - 3
12-52843563-G-C c.891C>G p.F297L Missense 4/9 - 2
12-52843565-A-C c.889T>G p.F297V Missense 4/9 - 3
12-52843565-A-G c.889T>C p.F297L Missense 4/9 - 2
12-52843572-C-T c.882G>A p.E294= Synonymous 4/9 - 1
12-52843573-T-A c.881A>T p.E294V Missense 4/9 - 1
12-52843574-C-T c.880G>A p.E294K Missense 4/9 - 1
12-52843575-A-C c.879T>G p.D293E Missense 4/9 - 1
12-52843575-A-G c.879T>C p.D293= Synonymous 4/9 - 2
12-52843575-A-T c.879T>A p.D293E Missense 4/9 - 1
12-52843577-C-G c.877G>C p.D293H Missense 4/9 - 1
12-52843577-C-T c.877G>A p.D293N Missense 4/9 - 1
12-52843581-A-C c.873T>G p.L291= Synonymous 4/9 - 1
12-52843581-A-G c.873T>C p.L291= Synonymous 4/9 - 5
12-52843581-A-T c.873T>A p.L291= Synonymous 4/9 - 1
12-52843583-G-C c.871C>G p.L291V Missense 4/9 - 2
12-52843583-G-T c.871C>A p.L291I Missense 4/9 - 4
12-52843589-C-G c.865G>C p.D289H Missense 4/9 - 1
12-52843589-C-T c.865G>A p.D289N Missense 4/9 - 2
12-52843591-G-A c.863C>T p.A288V Missense 4/9 - 1
12-52843591-G-T c.863C>A p.A288E Missense 4/9 - 3
12-52843593-C-T c.861G>A p.K287= Synonymous 4/9 - 1
12-52843597-G-C c.857C>G p.A286G Missense 4/9 - 1
12-52843603-AG-TA c.850_851delinsTA p.L284* Nonsense 4/9 - 2
12-52843603-A-T c.851T>A p.L284Q Missense 4/9 - 1
12-52843605-T-A c.849A>T p.E283D Missense 4/9 - 2
12-52843605-T-G c.849A>C p.E283D Missense 4/9 - 1
12-52843607-C-T c.847G>A p.E283K Missense 4/9 - 2
12-52843608-A-C c.846T>G p.V282= Synonymous 4/9 - 1
12-52843608-A-G c.846T>C p.V282= Synonymous 4/9 - 1
12-52843608-A-T c.846T>A p.V282= Synonymous 4/9 - 1
12-52843610-C-T c.844G>A p.V282I Missense 4/9 - 1
12-52843613-T-G c.841A>C p.K281Q Missense 4/9 - 1
12-52843617-C-A c.837G>T p.M279I Missense 4/9 - 1
12-52843617-C-G c.837G>C p.M279I Missense 4/9 - 1
12-52843617-C-T c.837G>A p.M279I Missense 4/9 - 1
12-52843619-T-G c.835A>C p.M279L Missense 4/9 - 1
12-52843628-C-A c.826G>T p.A276S Missense 4/9 - 1
12-52843630-AT-A c.824del p.D275Vfs*5 Frameshift 4/9 - 1
12-52843635-A-G c.819T>C p.D273= Synonymous 4/9 - 1
12-52843666-G-A c.817-29C>T - IntronicSNV - 3/8 5
12-52843688-T-C c.817-51A>G - IntronicSNV - 3/8 3
12-52843729-G-C c.816+67C>G - IntronicSNV - 3/8 1
12-52843733-C-T c.816+63G>A - IntronicSNV - 3/8 1
12-52843779-T-C c.816+17A>G - IntronicSNV - 3/8 5
12-52843783-T-C c.816+13A>G - IntronicSNV - 3/8 1
12-52843796-C-G c.816G>C p.K272N Missense 3/9 - 1
12-52843799-C-T c.813G>A p.K271= Synonymous 3/9 - 1
12-52843816-C-T c.796G>A p.E266K Missense 3/9 - 2
12-52843820-C-A c.792G>T p.E264D Missense 3/9 - 1
12-52843820-C-G c.792G>C p.E264D Missense 3/9 - 1
12-52843830-G-A c.782C>T p.T261I Missense 3/9 - 3
12-52843830-G-T c.782C>A p.T261K Missense 3/9 - 1
12-52843833-C-T c.779G>A p.R260H Missense 3/9 - 2
12-52843831-TGC-T c.779_780del p.R260Hfs*6 Frameshift 3/9 - 1
12-52843834-G-A c.778C>T p.R260C Missense 3/9 - 1
12-52843838-G-C c.774C>G p.N258K Missense 3/9 - 1
12-52843838-G-T c.774C>A p.N258K Missense 3/9 - 1
12-52843845-T-A c.767A>T p.E256V Missense 3/9 - 1
12-52843845-T-G c.767A>C p.E256A Missense 3/9 - 1
12-52843856-T-A c.756A>T p.K252N Missense 3/9 - 1
12-52843875-G-A c.756-19C>T - IntronicSNV - 2/8 1
12-52843884-T-A c.756-28A>T - IntronicSNV - 2/8 1
12-52843884-T-C c.756-28A>G - IntronicSNV - 2/8 1
12-52843888-G-A c.756-32C>T - IntronicSNV - 2/8 2
12-52843888-G-C c.756-32C>G - IntronicSNV - 2/8 2
12-52843888-G-T c.756-32C>A - IntronicSNV - 2/8 2
12-52843932-T-A c.756-76A>T - IntronicSNV - 2/8 2
12-52843992-A-G c.756-136T>C - IntronicSNV - 2/8 3
12-52844016-T-C c.756-160A>G - IntronicSNV - 2/8 2
12-52844177-A-G c.755+13T>C - IntronicSNV - 2/8 1
12-52844178-T-C c.755+12A>G - IntronicSNV - 2/8 2
12-52844179-G-T c.755+11C>A - IntronicSNV - 2/8 2
12-52844184-C-CCATTTCTCCTGTTTAA c.755+5_755+6insTTAAACAGGAGAAATG - IntronicInsertion - 2/8 3
12-52844188-A-G c.755+2T>C - IntronicSNV - 2/8 1
12-52844195-C-T c.750G>A p.K250= Synonymous 2/9 - 3
12-52844200-G-A c.745C>T p.L249F Missense 2/9 - 1
12-52844203-C-T c.742G>A p.D248N Missense 2/9 - 1
12-52844210-C-A c.735G>T p.L245= Synonymous 2/9 - 2
12-52844210-C-G c.735G>C p.L245= Synonymous 2/9 - 2
12-52844210-C-T c.735G>A p.L245= Synonymous 2/9 - 2
12-52844212-G-A c.733C>T p.L245= Synonymous 2/9 - 2
12-52844213-G-A c.732C>T p.D244= Synonymous 2/9 - 1
12-52844219-C-A c.726G>T p.M242I Missense 2/9 - 1
12-52844222-G-A c.723C>T p.N241= Synonymous 2/9 - 1
12-52844226-C-G c.719G>C p.R240T Missense 2/9 - 2
12-52844234-C-A c.711G>T p.S237= Synonymous 2/9 - 1
12-52844234-C-G c.711G>C p.S237= Synonymous 2/9 - 1
12-52844234-C-T c.711G>A p.S237= Synonymous 2/9 - 1
12-52844235-G-A c.710C>T p.S237L Missense 2/9 - 3
12-52844237-G-A c.708C>T p.D236= Synonymous 2/9 - 1
12-52844239-C-A c.706G>T p.D236Y Missense 2/9 - 1
12-52844239-C-G c.706G>C p.D236H Missense 2/9 - 3
12-52844239-C-T c.706G>A p.D236N Missense 2/9 - 2
12-52844240-C-T c.705G>A p.L235= Synonymous 2/9 - 3
12-52844243-A-C c.702T>G p.R234= Synonymous 2/9 - 2
12-52844243-A-G c.702T>C p.R234= Synonymous 2/9 - 8
12-52844243-A-T c.702T>A p.R234= Synonymous 2/9 - 2
12-52844244-C-T c.701G>A p.R234H Missense 2/9 - 9
12-52844245-G-A c.700C>T p.R234C Missense 2/9 - 1
12-52844246-A-C c.699T>G p.G233= Synonymous 2/9 - 1
12-52844246-A-G c.699T>C p.G233= Synonymous 2/9 - 9
12-52844246-A-T c.699T>A p.G233= Synonymous 2/9 - 6
12-52844250-C-T c.695G>A p.R232Q Missense 2/9 - 3
12-52844251-G-A c.694C>T p.R232W Missense 2/9 - 3
12-52844254-C-T c.691G>A p.E231K Missense 2/9 - 7
12-52844255-C-T c.690G>A p.G230= Synonymous 2/9 - 3
12-52844256-C-T c.689G>A p.G230E Missense 2/9 - 1
12-52844253-T-TC c.691dup p.E231Gfs*24 Frameshift 2/9 - 1
12-52844258-CAC-AAA c.685_687delinsTTT p.V229F Missense 2/9 - 1
12-52844258-C-T c.687G>A p.V229= Synonymous 2/9 - 2
12-52844261-G-A c.684C>T p.I228= Synonymous 2/9 - 5
12-52844261-G-T c.684C>A p.I228= Synonymous 2/9 - 3
12-52844262-A-G c.683T>C p.I228T Missense 2/9 - 1
12-52844264-G-A c.681C>T p.N227= Synonymous 2/9 - 1
12-52844265-T-A c.680A>T p.N227I Missense 2/9 - 5
12-52844265-T-C c.680A>G p.N227S Missense 2/9 - 28
12-52844269-C-G c.676G>C p.D226H Missense 2/9 - 2
12-52844269-C-T c.676G>A p.D226N Missense 2/9 - 1
12-52844270-C-T c.675G>A p.L225= Synonymous 2/9 - 1
12-52844273-C-A c.672G>T p.Q224H Missense 2/9 - 1
12-52844273-C-G c.672G>C p.Q224H Missense 2/9 - 1
12-52844275-G-A c.670C>T p.Q224* Nonsense 2/9 - 2
12-52844277-C-A c.668G>T p.R223M Missense 2/9 - 1
12-52844279-C-A c.666G>T p.R222S Missense 2/9 - 1
12-52844279-C-G c.666G>C p.R222S Missense 2/9 - 1
12-52844303-G-A c.642C>T p.F214= Synonymous 2/9 - 2
12-52844306-C-G c.639G>C p.L213F Missense 2/9 - 1
12-52844309-C-T c.636G>A p.P212= Synonymous 2/9 - 1
12-52844310-G-A c.635C>T p.P212L Missense 2/9 - 4
12-52844310-G-T c.635C>A p.P212Q Missense 2/9 - 1
12-52844311-G-C c.634C>G p.P212A Missense 2/9 - 1
12-52844314-C-T c.631G>A p.E211K Missense 2/9 - 3
12-52844318-GGTT-G c.625_627del p.N209del InFrameDeletion 2/9 - 1
12-52844323-G-A c.622C>T p.Q208* Nonsense 2/9 - 2
12-52844324-C-T c.621G>A p.R207= Synonymous 2/9 - 2
12-52844327-C-T c.618G>A p.V206= Synonymous 2/9 - 1
12-52844333-C-A c.612G>T p.K204N Missense 2/9 - 1
12-52844333-C-G c.612G>C p.K204N Missense 2/9 - 1
12-52844334-T-G c.611A>C p.K204T Missense 2/9 - 2
12-52844340-C-G c.605G>C p.G202A Missense 2/9 - 1
12-52844342-C-T c.603G>A p.Q201= Synonymous 2/9 - 2
12-52844344-G-A c.601C>T p.Q201* Nonsense 2/9 - 1
12-52844345-C-T c.600G>A p.E200= Synonymous 2/9 - 1
12-52844347-C-T c.598G>A p.E200K Missense 2/9 - 2
12-52844349-T-G c.596A>C p.Q199P Missense 2/9 - 1
12-52844355-A-G c.590T>C p.L197P Missense 2/9 - 2
12-52844356-G-A c.589C>T p.L197= Synonymous 2/9 - 3
12-52844356-G-C c.589C>G p.L197V Missense 2/9 - 1
12-52844358-G-A c.587C>T p.T196I Missense 2/9 - 4
12-52844360-C-T c.585G>A p.W195* Nonsense 2/9 - 1
12-52844363-C-A c.582G>T p.K194N Missense 2/9 - 1
12-52844366-G-A c.579C>T p.T193= Synonymous 2/9 - 2
12-52844366-G-C c.579C>G p.T193= Synonymous 2/9 - 2
12-52844366-G-T c.579C>A p.T193= Synonymous 2/9 - 2
12-52844369-G-T c.576C>A p.D192E Missense 2/9 - 1
12-52844377-C-G c.568G>C p.V190L Missense 2/9 - 1
12-52844378-C-A c.567G>T p.K189N Missense 2/9 - 6
12-52844378-C-G c.567G>C p.K189N Missense 2/9 - 10
12-52844381-G-A c.564C>T p.N188= Synonymous 2/9 - 1
12-52844381-G-C c.564C>G p.N188K Missense 2/9 - 1
12-52844381-G-T c.564C>A p.N188K Missense 2/9 - 2
12-52844395-G-C c.550C>G p.L184V Missense 2/9 - 1
12-52844396-G-T c.549C>A p.F183L Missense 2/9 - 1
12-52844400-C-T c.545G>A p.R182Q Missense 2/9 - 8
12-52844401-G-A c.544C>T p.R182W Missense 2/9 - 3
12-52844402-C-A c.543G>T p.V181= Synonymous 2/9 - 1
12-52844403-A-T c.542T>A p.V181E Missense 2/9 - 1
12-52844477-G-GC c.541-74_541-73insG - IntronicInsertion - 1/8 3
12-52845056-C-T c.540+267G>A - IntronicSNV - 1/8 1
12-52845186-G-A c.540+137C>T - IntronicSNV - 1/8 2
12-52845262-G-A c.540+61C>T - IntronicSNV - 1/8 1
12-52845262-G-C c.540+61C>G - IntronicSNV - 1/8 1
12-52845262-G-T c.540+61C>A - IntronicSNV - 1/8 1
12-52845271-T-C c.540+52A>G - IntronicSNV - 1/8 4
12-52845297-C-A c.540+26G>T - IntronicSNV - 1/8 1
12-52845297-C-G c.540+26G>C - IntronicSNV - 1/8 1
12-52845297-C-T c.540+26G>A - IntronicSNV - 1/8 1
12-52845298-G-C c.540+25C>G - IntronicSNV - 1/8 4
12-52845329-G-A c.534C>T p.I178= Synonymous 1/9 - 3
12-52845330-A-T c.533T>A p.I178N Missense 1/9 - 1
12-52845339-G-A c.524C>T p.A175V Missense 1/9 - 1
12-52845340-C-T c.523G>A p.A175T Missense 1/9 - 1
12-52845350-G-C c.513C>G p.N171K Missense 1/9 - 1
12-52845350-G-T c.513C>A p.N171K Missense 1/9 - 1
12-52845344-CTTG-C c.516_518del p.N172del InFrameDeletion 1/9 - 3
12-52845352-T-C c.511A>G p.N171D Missense 1/9 - 1
12-52845356-G-A c.507C>T p.T169= Synonymous 1/9 - 1
12-52845356-G-C c.507C>G p.T169= Synonymous 1/9 - 1
12-52845356-G-T c.507C>A p.T169= Synonymous 1/9 - 1
12-52845357-G-C c.506C>G p.T169S Missense 1/9 - 4
12-52845359-C-T c.504G>A p.K168= Synonymous 1/9 - 1
12-52845360-T-C c.503A>G p.K168R Missense 1/9 - 2
12-52845362-G-C c.501C>G p.I167M Missense 1/9 - 1
12-52845372-C-A c.491G>T p.R164L Missense 1/9 - 1
12-52845373-G-A c.490C>T p.R164C Missense 1/9 - 1
12-52845373-G-C c.490C>G p.R164G Missense 1/9 - 1
12-52845376-C-A c.487G>T p.E163* Nonsense 1/9 - 2
12-52845376-C-T c.487G>A p.E163K Missense 1/9 - 3
12-52845377-C-A c.486G>T p.E162D Missense 1/9 - 1
12-52845377-C-G c.486G>C p.E162D Missense 1/9 - 1
12-52845379-C-A c.484G>T p.E162* Nonsense 1/9 - 3
12-52845379-C-T c.484G>A p.E162K Missense 1/9 - 1
12-52845380-G-A c.483C>T p.A161= Synonymous 1/9 - 1
12-52845382-C-T c.481G>A p.A161T Missense 1/9 - 1
12-52845383-C-T c.480G>A p.R160= Synonymous 1/9 - 1
12-52845384-C-T c.479G>A p.R160Q Missense 1/9 - 2
12-52845385-G-A c.478C>T p.R160W Missense 1/9 - 2
12-52845391-G-A c.472C>T p.R158W Missense 1/9 - 5
12-52845391-G-C c.472C>G p.R158G Missense 1/9 - 2
12-52845391-G-T c.472C>A p.R158= Synonymous 1/9 - 1
12-52845395-G-A c.468C>T p.I156= Synonymous 1/9 - 4
12-52845395-G-C c.468C>G p.I156M Missense 1/9 - 1
12-52845399-G-A c.464C>T p.A155V Missense 1/9 - 2
12-52845399-G-T c.464C>A p.A155D Missense 1/9 - 1
12-52845400-C-T c.463G>A p.A155T Missense 1/9 - 3
12-52845401-G-A c.462C>T p.P154= Synonymous 1/9 - 2
12-52845408-A-G c.455T>C p.I152T Missense 1/9 - 1
12-52845413-C-T c.450G>A p.L150= Synonymous 1/9 - 1
12-52845415-G-C c.448C>G p.L150V Missense 1/9 - 2
12-52845418-T-C c.445A>G p.N149D Missense 1/9 - 2
12-52845419-G-A c.444C>T p.L148= Synonymous 1/9 - 1
12-52845419-G-C c.444C>G p.L148= Synonymous 1/9 - 1
12-52845419-G-T c.444C>A p.L148= Synonymous 1/9 - 2
12-52845418-TGAGGGGAGTCAG-T c.433_444del p.L145_L148del InFrameDeletion 1/9 - 1
12-52845422-G-A c.441C>T p.P147= Synonymous 1/9 - 1
12-52845422-G-C c.441C>G p.P147= Synonymous 1/9 - 1
12-52845422-G-T c.441C>A p.P147= Synonymous 1/9 - 3
12-52845423-G-A c.440C>T p.P147L Missense 1/9 - 2
12-52845424-G-A c.439C>T p.P147S Missense 1/9 - 1
12-52845427-T-C c.436A>G p.T146A Missense 1/9 - 1
12-52845428-TCAG-T c.433_435del p.L145del InFrameDeletion 1/9 - 1
12-52845433-G-C c.430C>G p.L144V Missense 1/9 - 1
12-52845435-C-T c.428G>A p.S143N Missense 1/9 - 20
12-52845437-C-A c.426G>T p.Q142H Missense 1/9 - 6
12-52845437-C-G c.426G>C p.Q142H Missense 1/9 - 4
12-52845439-G-A c.424C>T p.Q142* Nonsense 1/9 - 1
12-52845440-GT-G c.422del p.N141Tfs*5 Frameshift 1/9 - 1
12-52845445-C-T c.418G>A p.V140I Missense 1/9 - 1
12-52845446-A-G c.417T>C p.T139= Synonymous 1/9 - 1
12-52845450-A-G c.413T>C p.V138A Missense 1/9 - 1
12-52845451-C-A c.412G>T p.V138F Missense 1/9 - 1
12-52845454-C-G c.409G>C p.E137Q Missense 1/9 - 4
12-52845458-G-A c.405C>T p.I135= Synonymous 1/9 - 1
12-52845458-G-T c.405C>A p.I135= Synonymous 1/9 - 1
12-52845461-G-A c.402C>T p.G134= Synonymous 1/9 - 1
12-52845463-C-A c.400G>T p.G134C Missense 1/9 - 1
12-52845466-C-G c.397G>C p.G133R Missense 1/9 - 2
12-52845466-C-T c.397G>A p.G133R Missense 1/9 - 7
12-52845467-CA-C c.396del p.G133Efs*13 Frameshift 1/9 - 1
12-52845471-G-A c.392C>T p.P131L Missense 1/9 - 4
12-52845472-G-T c.391C>A p.P131T Missense 1/9 - 1
12-52845467-A-AG c.395dup p.G133Wfs*21 Frameshift 1/9 - 3
12-52845473-G-A c.390C>T p.C130= Synonymous 1/9 - 1
12-52845474-C-A c.389G>T p.C130F Missense 1/9 - 1
12-52845474-C-CCCTGGCTTCCCTGTGTGCCCCCCTGG c.388_389insCCAGGGGGGCACACAGGGAAGCCAGG p.C130Sfs*25 Frameshift 1/9 - 1
12-52845474-C-T c.389G>A p.C130Y Missense 1/9 - 2
12-52845478-C-G c.385G>C p.V129L Missense 1/9 - 2
12-52845479-A-G c.384T>C p.P128= Synonymous 1/9 - 1
12-52845481-G-A c.382C>T p.P128S Missense 1/9 - 5
12-52845481-G-C c.382C>G p.P128A Missense 1/9 - 1
12-52845482-G-A c.381C>T p.F127= Synonymous 1/9 - 4
12-52845482-G-C c.381C>G p.F127L Missense 1/9 - 1
12-52845482-G-T c.381C>A p.F127L Missense 1/9 - 1
12-52845484-A-G c.379T>C p.F127L Missense 1/9 - 1
12-52845486-C-T c.377G>A p.G126D Missense 1/9 - 1
12-52845491-G-A c.372C>T p.G124= Synonymous 1/9 - 1
12-52845491-G-C c.372C>G p.G124= Synonymous 1/9 - 1
12-52845491-G-T c.372C>A p.G124= Synonymous 1/9 - 1
12-52845492-C-T c.371G>A p.G124D Missense 1/9 - 1
12-52845493-C-T c.370G>A p.G124S Missense 1/9 - 1
12-52845495-C-T c.368G>A p.G123E Missense 1/9 - 1
12-52845496-C-A c.367G>T p.G123W Missense 1/9 - 3
12-52845500-G-A c.363C>T p.G121= Synonymous 1/9 - 2
12-52845500-G-C c.363C>G p.G121= Synonymous 1/9 - 2
12-52845500-G-T c.363C>A p.G121= Synonymous 1/9 - 3
12-52845501-C-T c.362G>A p.G121D Missense 1/9 - 2
12-52845504-C-A c.359G>T p.G120V Missense 1/9 - 1
12-52845506-A-C c.357T>G p.A119= Synonymous 1/9 - 1
12-52845506-A-G c.357T>C p.A119= Synonymous 1/9 - 1
12-52845506-A-T c.357T>A p.A119= Synonymous 1/9 - 1
12-52845508-C-G c.355G>C p.A119P Missense 1/9 - 1
12-52845511-G-T c.352C>A p.L118I Missense 1/9 - 1
12-52845513-C-T c.350G>A p.G117D Missense 1/9 - 1
12-52845518-T-A c.345A>T p.G115= Synonymous 1/9 - 1
12-52845518-T-C c.345A>G p.G115= Synonymous 1/9 - 1
12-52845518-T-G c.345A>C p.G115= Synonymous 1/9 - 1
12-52845519-C-T c.344G>A p.G115E Missense 1/9 - 1
12-52845530-A-C c.333T>G p.G111= Synonymous 1/9 - 1
12-52845530-A-G c.333T>C p.G111= Synonymous 1/9 - 1
12-52845530-A-T c.333T>A p.G111= Synonymous 1/9 - 1
12-52845531-C-T c.332G>A p.G111D Missense 1/9 - 20
12-52845532-C-T c.331G>A p.G111S Missense 1/9 - 2
12-52845546-G-T c.317C>A p.A106D Missense 1/9 - 1
12-52845549-C-T c.314G>A p.G105E Missense 1/9 - 1
12-52845552-C-A c.311G>T p.G104V Missense 1/9 - 1
12-52845566-T-A c.297A>T p.G99= Synonymous 1/9 - 1
12-52845566-T-C c.297A>G p.G99= Synonymous 1/9 - 1
12-52845566-TCC-GCT c.295_297delinsAGC p.G99S Missense 1/9 - 1
12-52845566-T-G c.297A>C p.G99= Synonymous 1/9 - 1
12-52845567-C-G c.296G>C p.G99A Missense 1/9 - 1
12-52845568-C-T c.295G>A p.G99R Missense 1/9 - 1
12-52845571-T-C c.292A>G p.S98G Missense 1/9 - 1
12-52845572-C-A c.291G>T p.G97= Synonymous 1/9 - 1
12-52845572-C-G c.291G>C p.G97= Synonymous 1/9 - 1
12-52845572-C-T c.291G>A p.G97= Synonymous 1/9 - 1
12-52845574-C-G c.289G>C p.G97R Missense 1/9 - 13
12-52845574-C-T c.289G>A p.G97R Missense 1/9 - 18
12-52845581-A-C c.282T>G p.G94= Synonymous 1/9 - 1
12-52845581-A-G c.282T>C p.G94= Synonymous 1/9 - 1
12-52845581-A-T c.282T>A p.G94= Synonymous 1/9 - 1
12-52845601-C-G c.262G>C p.G88R Missense 1/9 - 3
12-52845601-C-T c.262G>A p.G88R Missense 1/9 - 12
12-52845602-G-A c.261C>T p.A87= Synonymous 1/9 - 1
12-52845606-C-A c.257G>T p.R86I Missense 1/9 - 1
12-52845606-C-G c.257G>C p.R86T Missense 1/9 - 2
12-52845613-C-T c.250G>A p.G84S Missense 1/9 - 1
12-52845615-T-G c.248A>C p.Y83S Missense 1/9 - 1
12-52845620-G-A c.243C>T p.G81= Synonymous 1/9 - 1
12-52845622-C-T c.241G>A p.G81S Missense 1/9 - 1
12-52845626-G-C c.237C>G p.I79M Missense 1/9 - 1
12-52845630-G-C c.233C>G p.A78G Missense 1/9 - 2
12-52845635-G-A c.228C>T p.S76= Synonymous 1/9 - 1
12-52845636-C-G c.227G>C p.S76T Missense 1/9 - 5
12-52845638-GC-G c.224del p.G75Afs*71 Frameshift 1/9 - 1
12-52845656-C-T c.207G>A p.R69= Synonymous 1/9 - 2
12-52845659-C-T c.204G>A p.K68= Synonymous 1/9 - 1
12-52845660-T-C c.203A>G p.K68R Missense 1/9 - 4
12-52845665-G-A c.198C>T p.G66= Synonymous 1/9 - 2
12-52845665-G-C c.198C>G p.G66= Synonymous 1/9 - 2
12-52845665-G-T c.198C>A p.G66= Synonymous 1/9 - 5
12-52845666-C-G c.197G>C p.G66A Missense 1/9 - 1
12-52845665-G-GC c.197dup p.S67Lfs*87 Frameshift 1/9 - 1
12-52845680-C-A c.183G>T p.L61= Synonymous 1/9 - 2
12-52845680-C-G c.183G>C p.L61= Synonymous 1/9 - 1
12-52845680-C-T c.183G>A p.L61= Synonymous 1/9 - 3
12-52845682-G-A c.181C>T p.L61= Synonymous 1/9 - 3
12-52845683-A-G c.180T>C p.S60= Synonymous 1/9 - 1
12-52845694-C-T c.169G>A p.G57S Missense 1/9 - 5
12-52845702-GC-CG c.160_161delinsCG p.A54R Missense 1/9 - 1
12-52845703-C-T c.160G>A p.A54T Missense 1/9 - 1
12-52845708-C-A c.155G>T p.G52V Missense 1/9 - 1
12-52845708-C-T c.155G>A p.G52E Missense 1/9 - 4
12-52845715-C-T c.148G>A p.A50T Missense 1/9 - 1
12-52845716-G-A c.147C>T p.G49= Synonymous 1/9 - 3
12-52845716-G-C c.147C>G p.G49= Synonymous 1/9 - 3
12-52845716-G-T c.147C>A p.G49= Synonymous 1/9 - 3
12-52845721-C-T c.142G>A p.G48S Missense 1/9 - 1
12-52845722-C-A c.141G>T p.L47= Synonymous 1/9 - 1
12-52845726-C-A c.137G>T p.G46V Missense 1/9 - 1
12-52845727-C-T c.136G>A p.G46S Missense 1/9 - 2
12-52845730-C-T c.133G>A p.G45S Missense 1/9 - 1
12-52845733-T-C c.130A>G p.S44G Missense 1/9 - 1
12-52845735-C-A c.128G>T p.G43V Missense 1/9 - 1
12-52845737-C-A c.126G>T p.R42S Missense 1/9 - 2
12-52845737-C-G c.126G>C p.R42S Missense 1/9 - 1
12-52845745-G-A c.118C>T p.R40C Missense 1/9 - 1
12-52845745-G-T c.118C>A p.R40S Missense 1/9 - 1
12-52845744-CG-C c.118del p.R40Afs*106 Frameshift 1/9 - 1
12-52845750-ACGGAGATGCTGCTGAAGCCAGAG-A c.90_112del p.S31Vfs*115 Frameshift 1/9 - 1
12-52845757-T-C c.106A>G p.I36V Missense 1/9 - 1
12-52845768-C-A c.95G>T p.G32V Missense 1/9 - 3
12-52845769-C-T c.94G>A p.G32S Missense 1/9 - 1
12-52845771-G-C c.92C>G p.S31C Missense 1/9 - 2
12-52845771-G-T c.92C>A p.S31Y Missense 1/9 - 2
12-52845772-A-C c.91T>G p.S31A Missense 1/9 - 1
12-52845774-C-T c.89G>A p.R30H Missense 1/9 - 3
12-52845775-G-A c.88C>T p.R30C Missense 1/9 - 2
12-52845777-C-A c.86G>T p.S29I Missense 1/9 - 2
12-52845781-C-T c.82G>A p.V28I Missense 1/9 - 3
12-52845784-C-T c.79G>A p.G27R Missense 1/9 - 1
12-52845787-G-A c.76C>T p.P26S Missense 1/9 - 1
12-52845788-G-A c.75C>T p.L25= Synonymous 1/9 - 1
12-52845788-G-C c.75C>G p.L25= Synonymous 1/9 - 1
12-52845788-G-T c.75C>A p.L25= Synonymous 1/9 - 1
12-52845791-CCT-ACA c.70_72delinsTGT p.R24C Missense 1/9 - 1
12-52845794-GGC-CAT c.67_69delinsATG p.A23M Missense 1/9 - 1
12-52845795-GC-TT c.67_68delinsAA p.A23N Missense 1/9 - 1
12-52845796-C-T c.67G>A p.A23T Missense 1/9 - 1
12-52845800-G-A c.63C>T p.N21= Synonymous 1/9 - 3
12-52845801-T-C c.62A>G p.N21S Missense 1/9 - 34
12-52845803-GGC-CCA c.58_60delinsTGG p.A20W Missense 1/9 - 1
12-52845803-GGC-TTA c.58_60delinsTAA p.A20* Nonsense 1/9 - 1
12-52845803-GGC-TTG c.58_60delinsCAA p.A20Q Missense 1/9 - 1
12-52845804-G-A c.59C>T p.A20V Missense 1/9 - 2
12-52845804-GC-CG c.58_59delinsCG p.A20R Missense 1/9 - 1
12-52845804-GC-TT c.58_59delinsAA p.A20N Missense 1/9 - 1
12-52845804-G-T c.59C>A p.A20D Missense 1/9 - 1
12-52845805-C-G c.58G>C p.A20P Missense 1/9 - 1
12-52845805-C-T c.58G>A p.A20T Missense 1/9 - 1
12-52845812-AC-CT c.50_51delinsAG p.G17E Missense 1/9 - 1
12-52845814-C-T c.49G>A p.G17S Missense 1/9 - 1
12-52845820-G-A c.43C>T p.R15C Missense 1/9 - 1
12-52845822-CT-GC c.40_41delinsGC p.S14A Missense 1/9 - 1
12-52845829-T-G c.34A>C p.S12R Missense 1/9 - 1
12-52845833-G-C c.30C>G p.S10R Missense 1/9 - 1
12-52845834-C-T c.29G>A p.S10N Missense 1/9 - 1
12-52845835-T-C c.28A>G p.S10G Missense 1/9 - 2
12-52845839-G-A c.24C>T p.I8= Synonymous 1/9 - 1
12-52845839-G-T c.24C>A p.I8= Synonymous 1/9 - 1
12-52845848-G-A c.15C>T p.S5= Synonymous 1/9 - 2
12-52845859-C-T c.4G>A p.A2T Missense 1/9 - 1
12-52845926-A-C c.-64T>G - IntergenicSNV 1/9 - 1
12-52845927-G-A c.-65C>T - IntergenicSNV 1/9 - 1