IMPDH1

IMPDH1 inosine monophosphate dehydrogenase 1

Annotation transcript: NM_000883.4

760 unique variant annotations were identified in 397 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
7-128032427-G-A c.*634C>T - 3-UTRSNV 17/17 - 1
7-128032464-C-T c.*597G>A - 3-UTRSNV 17/17 - 1
7-128032785-G-A c.*276C>T - 3-UTRSNV 17/17 - 1
7-128032833-C-G c.*228G>C - 3-UTRSNV 17/17 - 4
7-128032833-C-T c.*228G>A - 3-UTRSNV 17/17 - 4
7-128032834-G-A c.*227C>T - 3-UTRSNV 17/17 - 1
7-128032865-G-A c.*196C>T - 3-UTRSNV 17/17 - 1
7-128032924-C-G c.*137G>C - 3-UTRSNV 17/17 - 1
7-128032924-C-T c.*137G>A - 3-UTRSNV 17/17 - 1
7-128033072-G-A c.1789C>T p.R597W Missense 17/17 - 1
7-128034305-T-A c.1778+27A>T - IntronicSNV - 16/16 1
7-128034305-T-G c.1778+27A>C - IntronicSNV - 16/16 1
7-128034332-G-A c.1778C>T p.S593F Missense 16/17 - 1
7-128034332-G-T c.1778C>A p.S593Y Missense 16/17 - 1
7-128034338-A-C c.1772T>G p.L591R Missense 16/17 - 1
7-128034340-G-A c.1770C>T p.G590= Synonymous 16/17 - 1
7-128034340-G-C c.1770C>G p.G590= Synonymous 16/17 - 1
7-128034340-G-T c.1770C>A p.G590= Synonymous 16/17 - 1
7-128034342-C-A c.1768G>T p.G590C Missense 16/17 - 1
7-128034344-T-C c.1766A>G p.H589R Missense 16/17 - 1
7-128034345-G-A c.1765C>T p.H589Y Missense 16/17 - 1
7-128034349-ACC-TCA c.1759_1761delinsTGA p.G587* Nonsense 16/17 - 1
7-128034367-C-T c.1743G>A p.S581= Synonymous 16/17 - 1
7-128034368-G-A c.1742C>T p.S581L Missense 16/17 - 2
7-128034374-G-A c.1736C>T p.T579I Missense 16/17 - 2
7-128034384-C-G c.1726G>C p.E576Q Missense 16/17 - 1
7-128034384-C-T c.1726G>A p.E576K Missense 16/17 - 1
7-128034388-C-T c.1722G>A p.K574= Synonymous 16/17 - 1
7-128034391-G-C c.1719C>G p.L573= Synonymous 16/17 - 1
7-128034398-C-G c.1712G>C p.G571A Missense 16/17 - 2
7-128034398-C-T c.1712G>A p.G571E Missense 16/17 - 1
7-128034407-A-G c.1703T>C p.M568T Missense 16/17 - 1
7-128034409-C-A c.1701G>T p.M567I Missense 16/17 - 1
7-128034409-C-G c.1701G>C p.M567I Missense 16/17 - 1
7-128034409-C-T c.1701G>A p.M567I Missense 16/17 - 1
7-128034439-G-A c.1695-24C>T - IntronicSNV - 15/16 1
7-128034451-C-A c.1695-36G>T - IntronicSNV - 15/16 1
7-128034467-C-G c.1694+43G>C - IntronicSNV - 15/16 2
7-128034467-C-T c.1694+43G>A - IntronicSNV - 15/16 3
7-128034477-G-A c.1694+33C>T - IntronicSNV - 15/16 3
7-128034506-T-C c.1694+4A>G - IntronicSNV - 15/16 1
7-128034509-C-T c.1694+1G>A - IntronicSNV - 15/16 1
7-128034510-C-T c.1694G>A p.R565Q Missense 15/17 - 1
7-128034511-G-A c.1693C>T p.R565W Missense 15/17 - 1
7-128034514-G-A c.1690C>T p.L564F Missense 15/17 - 1
7-128034515-GGA-G c.1688_1689del p.V563Afs*13 Frameshift 15/17 - 1
7-128034519-G-A c.1685C>T p.S562F Missense 15/17 - 1
7-128034525-CT-AA c.1678_1679delinsTT p.S560F Missense 15/17 - 1
7-128034528-C-T c.1676G>A p.R559H Missense 15/17 - 1
7-128034530-G-A c.1674C>T p.A558= Synonymous 15/17 - 1
7-128034530-G-C c.1674C>G p.A558= Synonymous 15/17 - 1
7-128034530-G-T c.1674C>A p.A558= Synonymous 15/17 - 2
7-128034531-GCCC-G c.1670_1672del p.G557del InFrameDeletion 15/17 - 1
7-128034539-A-C c.1665T>G p.D555E Missense 15/17 - 1
7-128034539-A-T c.1665T>A p.D555E Missense 15/17 - 1
7-128034549-C-T c.1655G>A p.G552D Missense 15/17 - 1
7-128034550-C-A c.1654G>T p.G552C Missense 15/17 - 1
7-128034550-C-T c.1654G>A p.G552S Missense 15/17 - 1
7-128034551-G-A c.1653C>T p.H551= Synonymous 15/17 - 1
7-128034564-G-A c.1640C>T p.A547V Missense 15/17 - 1
7-128034572-G-A c.1632C>T p.Y544= Synonymous 15/17 - 1
7-128034576-G-C c.1628C>G p.P543R Missense 15/17 - 1
7-128034577-G-A c.1627C>T p.P543S Missense 15/17 - 2
7-128034580-C-T c.1624G>A p.V542M Missense 15/17 - 3
7-128034581-G-A c.1623C>T p.F541= Synonymous 15/17 - 2
7-128034596-T-A c.1608A>T p.G536= Synonymous 15/17 - 1
7-128034596-T-C c.1608A>G p.G536= Synonymous 15/17 - 1
7-128034596-TCC-CCA c.1606_1608delinsTGG p.G536W Missense 15/17 - 1
7-128034596-T-G c.1608A>C p.G536= Synonymous 15/17 - 1
7-128034601-T-C c.1603A>G p.K535E Missense 15/17 - 2
7-128034605-C-T c.1599G>A p.Q533= Synonymous 15/17 - 1
7-128034606-T-C c.1598A>G p.Q533R Missense 15/17 - 6
7-128034607-G-A c.1597C>T p.Q533* Nonsense 15/17 - 1
7-128034608-G-A c.1596C>T p.I532= Synonymous 15/17 - 2
7-128034608-G-T c.1596C>A p.I532= Synonymous 15/17 - 1
7-128034618-G-A c.1586C>T p.S529L Missense 15/17 - 3
7-128034629-C-A c.1575G>T p.A525= Synonymous 15/17 - 28
7-128034629-C-G c.1575G>C p.A525= Synonymous 15/17 - 27
7-128034629-C-T c.1575G>A p.A525= Synonymous 15/17 - 29
7-128034630-G-A c.1574C>T p.A525V Missense 15/17 - 1
7-128034631-C-T c.1573G>A p.A525T Missense 15/17 - 5
7-128034632-G-A c.1572C>T p.I524= Synonymous 15/17 - 3
7-128034632-G-C c.1572C>G p.I524M Missense 15/17 - 1
7-128034632-G-T c.1572C>A p.I524= Synonymous 15/17 - 2
7-128034637-T-A c.1567A>T p.K523* Nonsense 15/17 - 1
7-128034642-T-TTATA c.1561_1562insTATA p.K521Ifs*2 Frameshift 15/17 - 1
7-128034646-C-CA c.1557_1558insT p.D520* Nonsense 15/17 - 1
7-128034649-C-G c.1555G>C p.G519R Missense 15/17 - 1
7-128034649-C-T c.1555G>A p.G519R Missense 15/17 - 1
7-128034652-C-T c.1552G>A p.E518K Missense 15/17 - 3
7-128034653-G-A c.1551C>T p.S517= Synonymous 15/17 - 2
7-128034657-C-A c.1551-4G>T - IntronicSNV - 14/16 1
7-128034657-C-T c.1551-4G>A - IntronicSNV - 14/16 1
7-128034767-A-C c.1551-114T>G - IntronicSNV - 14/16 3
7-128034945-G-A c.1548C>T p.F516= Synonymous 14/17 - 1
7-128034949-T-G c.1544A>C p.Y515S Missense 14/17 - 1
7-128034952-C-T c.1541G>A p.R514Q Missense 14/17 - 2
7-128034953-CG-C c.1540del p.R514Dfs*9 Frameshift 14/17 - 1
7-128034955-T-A c.1538A>T p.K513I Missense 14/17 - 1
7-128034960-GCT-TCA c.1531_1533delinsTGA p.S511* Nonsense 14/17 - 1
7-128034961-C-A c.1532G>T p.S511I Missense 14/17 - 1
7-128034961-C-T c.1532G>A p.S511N Missense 14/17 - 1
7-128034964-C-T c.1529G>A p.S510N Missense 14/17 - 1
7-128034966-G-A c.1527C>T p.S509= Synonymous 14/17 - 2
7-128034970-C-G c.1523G>C p.S508T Missense 14/17 - 1
7-128034970-CT-AA c.1522_1523delinsTT p.S508F Missense 14/17 - 1
7-128034977-C-G c.1516G>C p.E506Q Missense 14/17 - 2
7-128034978-C-T c.1515G>A p.M505I Missense 14/17 - 1
7-128034979-A-C c.1514T>G p.M505R Missense 14/17 - 1
7-128034982-G-A c.1511C>T p.A504V Missense 14/17 - 1
7-128034997-A-T c.1496T>A p.M499K Missense 14/17 - 1
7-128034999-G-A c.1494C>T p.G498= Synonymous 14/17 - 1
7-128035003-C-T c.1490G>A p.R497Q Missense 14/17 - 1
7-128035004-G-A c.1489C>T p.R497W Missense 14/17 - 3
7-128035003-CG-C c.1489del p.R497Gfs*26 Frameshift 14/17 - 1
7-128035011-C-A c.1482G>T p.K494N Missense 14/17 - 1
7-128035011-C-G c.1482G>C p.K494N Missense 14/17 - 1
7-128035013-T-C c.1480A>G p.K494E Missense 14/17 - 1
7-128035014-G-A c.1479C>T p.L493= Synonymous 14/17 - 1
7-128035017-C-T c.1476G>A p.R492= Synonymous 14/17 - 1
7-128035018-C-A c.1475G>T p.R492L Missense 14/17 - 1
7-128035018-C-T c.1475G>A p.R492Q Missense 14/17 - 1
7-128035022-C-T c.1471G>A p.V491M Missense 14/17 - 1
7-128035025-C-G c.1468G>C p.G490R Missense 14/17 - 2
7-128035025-C-T c.1468G>A p.G490R Missense 14/17 - 1
7-128035026-G-A c.1467C>T p.D489= Synonymous 14/17 - 1
7-128035026-G-C c.1467C>G p.D489E Missense 14/17 - 1
7-128035026-G-T c.1467C>A p.D489E Missense 14/17 - 1
7-128035030-TGAG-T c.1461_1463del p.F487_S488delinsL MultiAAMissense 14/17 - 1
7-128035040-TACTCGCCAG-T c.1445_1453del p.P482_Y485delinsH MultiAAMissense 14/17 - 1
7-128035045-C-T c.1448G>A p.G483D Missense 14/17 - 1
7-128035056-C-T c.1437G>A p.T479= Synonymous 14/17 - 1
7-128035057-G-A c.1436C>T p.T479M Missense 14/17 - 4
7-128035057-G-T c.1436C>A p.T479K Missense 14/17 - 1
7-128035059-A-G c.1434T>C p.T478= Synonymous 14/17 - 1
7-128035060-G-A c.1433C>T p.T478I Missense 14/17 - 1
7-128035065-G-A c.1428C>T p.A476= Synonymous 14/17 - 1
7-128035066-G-A c.1427C>T p.A476V Missense 14/17 - 1
7-128035071-CAG-AAA c.1420_1422delinsTTT p.L474F Missense 14/17 - 1
7-128035072-A-C c.1421T>G p.L474R Missense 14/17 - 1
7-128035073-G-A c.1420C>T p.L474= Synonymous 14/17 - 1
7-128035074-G-C c.1419C>G p.S473= Synonymous 14/17 - 1
7-128035076-GA-G c.1417del p.S473Pfs*50 Frameshift 14/17 - 1
7-128035152-G-A c.1405+33C>T - IntronicSNV - 13/16 1
7-128035176-T-C c.1405+9A>G - IntronicSNV - 13/16 2
7-128035182-C-T c.1405+3G>A - IntronicSNV - 13/16 1
7-128035183-A-C c.1405+2T>G - IntronicSNV - 13/16 1
7-128035194-C-T c.1396G>A p.A466T Missense 13/17 - 1
7-128035196-CC-GT c.1393_1394delinsAC p.G465T Missense 13/17 - 1
7-128035210-C-A c.1380G>T p.K460N Missense 13/17 - 1
7-128035210-C-G c.1380G>C p.K460N Missense 13/17 - 2
7-128035211-T-C c.1379A>G p.K460R Missense 13/17 - 1
7-128035218-C-A c.1372G>T p.V458L Missense 13/17 - 1
7-128035218-C-G c.1372G>C p.V458L Missense 13/17 - 1
7-128035218-C-T c.1372G>A p.V458M Missense 13/17 - 1
7-128035219-G-A c.1371C>T p.H457= Synonymous 13/17 - 1
7-128035221-G-A c.1369C>T p.H457Y Missense 13/17 - 1
7-128035227-C-A c.1363G>T p.V455L Missense 13/17 - 1
7-128035227-C-G c.1363G>C p.V455L Missense 13/17 - 1
7-128035227-C-T c.1363G>A p.V455M Missense 13/17 - 1
7-128035228-G-A c.1362C>T p.T454= Synonymous 13/17 - 1
7-128035230-T-C c.1360A>G p.T454A Missense 13/17 - 1
7-128035231-C-T c.1359G>A p.Q453= Synonymous 13/17 - 1
7-128035233-G-A c.1357C>T p.Q453* Nonsense 13/17 - 1
7-128035237-G-A c.1353C>T p.G451= Synonymous 13/17 - 2
7-128035239-C-T c.1351G>A p.G451S Missense 13/17 - 1
7-128035247-G-A c.1343C>T p.A448V Missense 13/17 - 1
7-128035249-T-A c.1341A>T p.I447= Synonymous 13/17 - 2
7-128035249-T-G c.1341A>C p.I447= Synonymous 13/17 - 2
7-128035251-T-C c.1339A>G p.I447V Missense 13/17 - 1
7-128035257-G-C c.1333C>G p.P445A Missense 13/17 - 1
7-128035264-A-G c.1326T>C p.F442= Synonymous 13/17 - 1
7-128035269-G-A c.1321C>T p.R441C Missense 13/17 - 1
7-128035270-C-T c.1320G>A p.R440= Synonymous 13/17 - 1
7-128035272-G-A c.1318C>T p.R440W Missense 13/17 - 2
7-128035272-G-C c.1318C>G p.R440G Missense 13/17 - 2
7-128035273-G-A c.1317C>T p.A439= Synonymous 13/17 - 3
7-128035273-G-C c.1317C>G p.A439= Synonymous 13/17 - 1
7-128035273-G-T c.1317C>A p.A439= Synonymous 13/17 - 1
7-128035274-G-A c.1316C>T p.A439V Missense 13/17 - 1
7-128035285-C-T c.1305G>A p.V435= Synonymous 13/17 - 1
7-128035288-C-A c.1302G>T p.K434N Missense 13/17 - 1
7-128035288-C-G c.1302G>C p.K434N Missense 13/17 - 1
7-128035292-GTA-G c.1297_1298del p.Y433Qfs*4 Frameshift 13/17 - 1
7-128035296-C-T c.1294G>A p.V432M Missense 13/17 - 4
7-128035298-G-C c.1292C>G p.A431G Missense 13/17 - 1
7-128035304-C-A c.1286G>T p.G429V Missense 13/17 - 1
7-128035310-G-A c.1280C>T p.P427L Missense 13/17 - 2
7-128035313-C-T c.1277G>A p.R426Q Missense 13/17 - 1
7-128035314-G-C c.1276C>G p.R426G Missense 13/17 - 1
7-128035316-C-G c.1274G>C p.G425A Missense 13/17 - 1
7-128035420-T-C c.1262-92A>G - IntronicSNV - 12/16 1
7-128036625-C-T c.1261+29G>A - IntronicSNV - 12/16 1
7-128036642-C-T c.1261+12G>A - IntronicSNV - 12/16 1
7-128036657-C-A c.1258G>T p.E420* Nonsense 12/17 - 1
7-128036657-C-G c.1258G>C p.E420Q Missense 12/17 - 1
7-128036657-C-T c.1258G>A p.E420K Missense 12/17 - 1
7-128036658-C-T c.1257G>A p.Q419= Synonymous 12/17 - 1
7-128036661-G-A c.1254C>T p.T418= Synonymous 12/17 - 1
7-128036662-G-A c.1253C>T p.T418I Missense 12/17 - 1
7-128036664-G-A c.1251C>T p.I417= Synonymous 12/17 - 1
7-128036664-G-T c.1251C>A p.I417= Synonymous 12/17 - 1
7-128036670-G-A c.1245C>T p.I415= Synonymous 12/17 - 1
7-128036677-C-T c.1238G>A p.G413D Missense 12/17 - 1
7-128036678-C-T c.1237G>A p.G413S Missense 12/17 - 1
7-128036680-C-A c.1235G>T p.C412F Missense 12/17 - 1
7-128036689-C-T c.1226G>A p.G409D Missense 12/17 - 1
7-128036693-C-T c.1222G>A p.V408M Missense 12/17 - 2
7-128036694-G-A c.1221C>T p.R407= Synonymous 12/17 - 1
7-128036694-GCG-CCA c.1219_1221delinsTGG p.R407W Missense 12/17 - 1
7-128036694-GC-TT c.1220_1221delinsAA p.R407Q Missense 12/17 - 2
7-128036696-G-A c.1219C>T p.R407C Missense 12/17 - 1
7-128036714-C-T c.1201G>A p.A401T Missense 12/17 - 1
7-128036715-A-G c.1200T>C p.D400= Synonymous 12/17 - 1
7-128036719-A-G c.1196T>C p.I399T Missense 12/17 - 1
7-128036723-G-T c.1192C>A p.L398M Missense 12/17 - 1
7-128036731-G-C c.1184C>G p.A395G Missense 12/17 - 1
7-128036735-G-C c.1180C>G p.Q394E Missense 12/17 - 1
7-128036736-G-A c.1179C>T p.A393= Synonymous 12/17 - 1
7-128036737-G-T c.1178C>A p.A393D Missense 12/17 - 2
7-128036738-C-T c.1177G>A p.A393T Missense 12/17 - 2
7-128036741-C-T c.1174G>A p.A392T Missense 12/17 - 2
7-128036742-T-A c.1173A>T p.T391= Synonymous 12/17 - 1
7-128036742-T-C c.1173A>G p.T391= Synonymous 12/17 - 1
7-128036742-T-G c.1173A>C p.T391= Synonymous 12/17 - 1
7-128036794-C-T c.1166-45G>A - IntronicSNV - 11/16 1
7-128036960-C-T c.1165+26G>A - IntronicSNV - 11/16 1
7-128036972-G-A c.1165+14C>T - IntronicSNV - 11/16 1
7-128036986-C-T c.1165G>A p.V389M Missense 11/17 - 2
7-128036987-G-A c.1164C>T p.N388= Synonymous 11/17 - 1
7-128036996-A-C c.1155T>G p.I385M Missense 11/17 - 1
7-128036997-A-ACAAACAAAAATTCTGCCT c.1153_1154insAGGCAGAATTTTTGTTTG p.I385delinsKAEFLFV MultiAAMissense 11/17 - 1
7-128036997-A-C c.1154T>G p.I385S Missense 11/17 - 1
7-128037009-T-C c.1142A>G p.H381R Missense 11/17 - 9
7-128037009-T-G c.1142A>C p.H381P Missense 11/17 - 4
7-128037014-G-A c.1137C>T p.Y379= Synonymous 11/17 - 1
7-128037014-G-C c.1137C>G p.Y379* Nonsense 11/17 - 1
7-128037015-T-G c.1136A>C p.Y379S Missense 11/17 - 2
7-128037017-C-A c.1134G>T p.K378N Missense 11/17 - 1
7-128037017-C-G c.1134G>C p.K378N Missense 11/17 - 1
7-128037021-T-A c.1130A>T p.Q377L Missense 11/17 - 1
7-128037029-G-A c.1122C>T p.Y374= Synonymous 11/17 - 1
7-128037030-T-A c.1121A>T p.Y374F Missense 11/17 - 1
7-128037036-A-G c.1115T>C p.V372A Missense 11/17 - 1
7-128037037-C-T c.1114G>A p.V372M Missense 11/17 - 1
7-128037040-T-C c.1111A>G p.M371V Missense 11/17 - 1
7-128037041-G-A c.1110C>T p.A370= Synonymous 11/17 - 1
7-128037041-G-C c.1110C>G p.A370= Synonymous 11/17 - 1
7-128037041-G-T c.1110C>A p.A370= Synonymous 11/17 - 1
7-128037043-C-G c.1108G>C p.A370P Missense 11/17 - 1
7-128037043-C-T c.1108G>A p.A370T Missense 11/17 - 6
7-128037049-G-A c.1102C>T p.Q368* Nonsense 11/17 - 1
7-128037053-C-T c.1098G>A p.V366= Synonymous 11/17 - 1
7-128037056-C-T c.1095G>A p.S365= Synonymous 11/17 - 1
7-128037057-G-A c.1094C>T p.S365L Missense 11/17 - 4
7-128037057-G-C c.1094C>G p.S365W Missense 11/17 - 1
7-128037057-G-T c.1094C>A p.S365* Nonsense 11/17 - 1
7-128037066-T-G c.1085A>C p.Q362P Missense 11/17 - 1
7-128037067-G-A c.1084C>T p.Q362* Nonsense 11/17 - 1
7-128037067-G-T c.1084C>A p.Q362K Missense 11/17 - 1
7-128037071-C-T c.1080G>A p.S360= Synonymous 11/17 - 1
7-128037072-G-A c.1079C>T p.S360L Missense 11/17 - 5
7-128037075-T-G c.1076A>C p.D359A Missense 11/17 - 1
7-128037181-T-A c.1075-105A>T - IntronicSNV - 10/16 1
7-128037222-T-C c.1075-146A>G - IntronicSNV - 10/16 1
7-128038366-G-A c.1074+102C>T - IntronicSNV - 10/16 1
7-128038461-G-A c.1074+7C>T - IntronicSNV - 10/16 2
7-128038461-GGC-G c.1074+6_1074+7del - IntronicDeletion - 10/16 1
7-128038462-C-A c.1074+6G>T - IntronicSNV - 10/16 2
7-128038480-G-A c.1062C>T p.D354= Synonymous 10/17 - 1
7-128038482-C-T c.1060G>A p.D354N Missense 10/17 - 2
7-128038483-G-A c.1059C>T p.V353= Synonymous 10/17 - 2
7-128038483-GAC-CAT c.1057_1059delinsATG p.V353M Missense 10/17 - 1
7-128038483-G-C c.1059C>G p.V353= Synonymous 10/17 - 2
7-128038483-G-T c.1059C>A p.V353= Synonymous 10/17 - 2
7-128038485-C-T c.1057G>A p.V353I Missense 10/17 - 6
7-128038487-C-T c.1055G>A p.G352D Missense 10/17 - 1
7-128038490-G-A c.1052C>T p.A351V Missense 10/17 - 2
7-128038491-C-T c.1051G>A p.A351T Missense 10/17 - 1
7-128038494-G-A c.1048C>T p.Q350* Nonsense 10/17 - 1
7-128038494-G-C c.1048C>G p.Q350E Missense 10/17 - 1
7-128038501-C-A c.1041G>T p.L347= Synonymous 10/17 - 1
7-128038501-C-G c.1041G>C p.L347= Synonymous 10/17 - 1
7-128038501-C-T c.1041G>A p.L347= Synonymous 10/17 - 1
7-128038503-G-A c.1039C>T p.L347= Synonymous 10/17 - 1
7-128038503-G-T c.1039C>A p.L347M Missense 10/17 - 1
7-128038505-T-G c.1037A>C p.D346A Missense 10/17 - 1
7-128038508-A-G c.1034T>C p.L345P Missense 10/17 - 1
7-128038509-G-C c.1033C>G p.L345V Missense 10/17 - 1
7-128038510-AC-TT c.1031_1032delinsAA p.R344Q Missense 10/17 - 1
7-128038512-G-A c.1030C>T p.R344C Missense 10/17 - 4
7-128038514-T-G c.1028A>C p.Y343S Missense 10/17 - 1
7-128038521-C-T c.1021G>A p.D341N Missense 10/17 - 1
7-128038530-G-A c.1012C>T p.R338C Missense 10/17 - 1
7-128038531-G-A c.1011C>T p.T337= Synonymous 10/17 - 1
7-128038531-G-C c.1011C>G p.T337= Synonymous 10/17 - 1
7-128038531-G-T c.1011C>A p.T337= Synonymous 10/17 - 1
7-128038532-G-A c.1010C>T p.T337I Missense 10/17 - 1
7-128038535-C-T c.1007G>A p.G336D Missense 10/17 - 2
7-128038534-GCCCACAGCTGC-G c.997_1007del p.A333Hfs*3 Frameshift 10/17 - 1
7-128038542-C-T c.1000G>A p.A334T Missense 10/17 - 3
7-128038543-T-A c.999A>T p.A333= Synonymous 10/17 - 1
7-128038543-T-C c.999A>G p.A333= Synonymous 10/17 - 1
7-128038543-T-G c.999A>C p.A333= Synonymous 10/17 - 1
7-128038547-C-A c.995G>T p.G332V Missense 10/17 - 1
7-128038555-C-A c.987G>T p.L329= Synonymous 10/17 - 2
7-128038555-C-G c.987G>C p.L329= Synonymous 10/17 - 18
7-128038555-C-T c.987G>A p.L329= Synonymous 10/17 - 17
7-128038557-G-A c.985C>T p.L329= Synonymous 10/17 - 2
7-128038557-G-T c.985C>A p.L329M Missense 10/17 - 1
7-128038558-C-G c.984G>C p.Q328H Missense 10/17 - 2
7-128038564-C-G c.978G>C p.Q326H Missense 10/17 - 1
7-128038565-CTGGGAATCCTT-C c.967_977del p.K323Efs*13 Frameshift 10/17 - 1
7-128038565-T-G c.977A>C p.Q326P Missense 10/17 - 1
7-128038574-T-A c.968A>T p.K323M Missense 10/17 - 1
7-128038574-T-C c.968A>G p.K323R Missense 10/17 - 5
7-128038575-T-C c.967A>G p.K323E Missense 10/17 - 1
7-128038580-G-A c.962C>T p.A321V Missense 10/17 - 6
7-128038580-G-C c.962C>G p.A321G Missense 10/17 - 1
7-128038581-C-A c.961G>T p.A321S Missense 10/17 - 1
7-128038583-A-G c.959T>C p.L320P Missense 10/17 - 1
7-128038592-T-A c.950A>T p.D317V Missense 10/17 - 2
7-128038596-G-C c.946C>G p.R316G Missense 10/17 - 2
7-128038597-G-A c.945C>T p.N315= Synonymous 10/17 - 1
7-128038597-G-T c.945C>A p.N315K Missense 10/17 - 1
7-128038600-C-A c.942G>T p.K314N Missense 10/17 - 2
7-128038600-C-G c.942G>C p.K314N Missense 10/17 - 1
7-128038602-T-C c.940A>G p.K314E Missense 10/17 - 2
7-128038597-GTTC-G c.942_944del p.K314del InFrameDeletion 10/17 - 5
7-128038609-G-C c.933C>G p.D311E Missense 10/17 - 1
7-128038611-C-T c.931G>A p.D311N Missense 10/17 - 12
7-128038614-T-G c.928A>C p.T310P Missense 10/17 - 1
7-128038615-GCG-CCA c.925_927delinsTGG p.R309W Missense 10/17 - 1
7-128038616-C-G c.926G>C p.R309P Missense 10/17 - 4
7-128038616-C-T c.926G>A p.R309H Missense 10/17 - 1
7-128038617-G-A c.925C>T p.R309C Missense 10/17 - 1
7-128038618-G-A c.924C>T p.A308= Synonymous 10/17 - 1
7-128038619-G-T c.923C>A p.A308D Missense 10/17 - 2
7-128038620-C-T c.922G>A p.A308T Missense 10/17 - 1
7-128038621-G-A c.921C>T p.I307= Synonymous 10/17 - 2
7-128038621-G-T c.921C>A p.I307= Synonymous 10/17 - 1
7-128038622-A-C c.920T>G p.I307S Missense 10/17 - 1
7-128038624-G-A c.918C>T p.I306= Synonymous 10/17 - 2
7-128038632-C-T c.910G>A p.V304M Missense 10/17 - 2
7-128038633-CAGCTCATCGCA-C c.898_908del p.C300Gfs*36 Frameshift 10/17 - 1
7-128038635-G-C c.907C>G p.L303V Missense 10/17 - 6
7-128038641-C-T c.901G>A p.D301N Missense 10/17 - 2
7-128038643-C-T c.899G>A p.C300Y Missense 10/17 - 2
7-128038643-GCAATCATTGAC-G c.889_899del p.V297Rfs*2 Frameshift 10/17 - 1
7-128038646-T-C c.896A>G p.D299G Missense 10/17 - 1
7-128038647-C-T c.895G>A p.D299N Missense 10/17 - 1
7-128038648-A-G c.894T>C p.N298= Synonymous 10/17 - 1
7-128038650-T-G c.892A>C p.N298H Missense 10/17 - 1
7-128038651-G-A c.891C>T p.V297= Synonymous 10/17 - 1
7-128038651-G-C c.891C>G p.V297= Synonymous 10/17 - 1
7-128038651-G-T c.891C>A p.V297= Synonymous 10/17 - 1
7-128038653-C-A c.889G>T p.V297F Missense 10/17 - 1
7-128038653-C-T c.889G>A p.V297I Missense 10/17 - 2
7-128038654-G-A c.888C>T p.I296= Synonymous 10/17 - 1
7-128038655-A-G c.887T>C p.I296T Missense 10/17 - 1
7-128038663-C-A c.879G>T p.K293N Missense 10/17 - 1
7-128038663-C-G c.879G>C p.K293N Missense 10/17 - 2
7-128038664-T-G c.878A>C p.K293T Missense 10/17 - 1
7-128039817-C-T c.874+332G>A - IntronicSNV - 9/16 1
7-128039818-A-C c.874+331T>G - IntronicSNV - 9/16 1
7-128039818-A-T c.874+331T>A - IntronicSNV - 9/16 1
7-128040002-G-T c.874+147C>A - IntronicSNV - 9/16 1
7-128040068-C-T c.874+81G>A - IntronicSNV - 9/16 1
7-128040091-C-T c.874+58G>A - IntronicSNV - 9/16 1
7-128040151-T-A c.872A>T p.K291I Missense 9/17 - 1
7-128040156-G-C c.867C>G p.S289R Missense 9/17 - 1
7-128040158-T-C c.865A>G p.S289G Missense 9/17 - 1
7-128040159-AC-TT c.863_864delinsAA p.R288Q Missense 9/17 - 1
7-128040160-C-T c.863G>A p.R288H Missense 9/17 - 3
7-128040162-C-A c.861G>T p.Q287H Missense 9/17 - 1
7-128040162-C-G c.861G>C p.Q287H Missense 9/17 - 1
7-128040169-A-C c.854T>G p.I285S Missense 9/17 - 1
7-128040170-T-C c.853A>G p.I285V Missense 9/17 - 1
7-128040173-C-T c.850G>A p.E284K Missense 9/17 - 1
7-128040174-A-C c.849T>G p.N283K Missense 9/17 - 2
7-128040180-C-T c.843G>A p.E281= Synonymous 9/17 - 1
7-128040182-C-A c.841G>T p.E281* Nonsense 9/17 - 1
7-128040182-C-G c.841G>C p.E281Q Missense 9/17 - 3
7-128040188-A-C c.835T>G p.L279V Missense 9/17 - 2
7-128040188-ACGTCACAC-A c.827_834del p.G276Vfs*6 Frameshift 9/17 - 1
7-128040190-G-A c.833C>T p.T278M Missense 9/17 - 3
7-128040196-C-A c.827G>T p.G276V Missense 9/17 - 3
7-128040199-G-A c.824C>T p.A275V Missense 9/17 - 1
7-128040200-C-T c.823G>A p.A275T Missense 9/17 - 1
7-128040203-G-A c.820C>T p.P274S Missense 9/17 - 4
7-128040207-C-T c.816G>A p.V272= Synonymous 9/17 - 1
7-128040212-C-T c.811G>A p.V271M Missense 9/17 - 2
7-128040215-G-C c.808C>G p.L270V Missense 9/17 - 3
7-128040217-T-G c.806A>C p.E269A Missense 9/17 - 1
7-128040223-C-T c.800G>A p.R267K Missense 9/17 - 1
7-128040223-CT-TG c.799_800delinsCA p.R267Q Missense 9/17 - 1
7-128040222-CCTTGGCGTCAT-C c.790_800del p.M264Dfs*2 Frameshift 9/17 - 1
7-128040224-T-C c.799A>G p.R267G Missense 9/17 - 1
7-128040225-T-C c.798A>G p.P266= Synonymous 9/17 - 1
7-128040226-G-A c.797C>T p.P266L Missense 9/17 - 1
7-128040229-G-A c.794C>T p.T265M Missense 9/17 - 1
7-128040230-T-C c.793A>G p.T265A Missense 9/17 - 1
7-128040230-T-G c.793A>C p.T265P Missense 9/17 - 1
7-128040234-C-A c.789G>T p.V263= Synonymous 9/17 - 3
7-128040234-CAC-GAT c.787_789delinsATC p.V263I Missense 9/17 - 1
7-128040234-C-G c.789G>C p.V263= Synonymous 9/17 - 3
7-128040234-C-T c.789G>A p.V263= Synonymous 9/17 - 3
7-128040236-C-T c.787G>A p.V263M Missense 9/17 - 2
7-128040243-G-A c.787-7C>T - IntronicSNV - 8/16 1
7-128040312-C-G c.786+75G>C - IntronicSNV - 8/16 1
7-128040318-C-G c.786+69G>C - IntronicSNV - 8/16 1
7-128040366-C-T c.786+21G>A - IntronicSNV - 8/16 1
7-128040393-G-A c.780C>T p.L260= Synonymous 8/17 - 2
7-128040393-G-C c.780C>G p.L260= Synonymous 8/17 - 3
7-128040393-G-T c.780C>A p.L260= Synonymous 8/17 - 2
7-128040396-G-A c.777C>T p.L259= Synonymous 8/17 - 1
7-128040396-G-C c.777C>G p.L259= Synonymous 8/17 - 1
7-128040396-G-T c.777C>A p.L259= Synonymous 8/17 - 1
7-128040410-C-T c.763G>A p.D255N Missense 8/17 - 3
7-128040418-G-T c.755C>A p.A252D Missense 8/17 - 1
7-128040421-AAGAAAGTCGAT-A c.742_752del p.I248Cfs*2 Frameshift 8/17 - 1
7-128040422-G-A c.751C>T p.L251F Missense 8/17 - 1
7-128040427-T-C c.746A>G p.D249G Missense 8/17 - 1
7-128040428-C-A c.745G>T p.D249Y Missense 8/17 - 2
7-128040430-A-G c.743T>C p.I248T Missense 8/17 - 1
7-128040434-C-A c.739G>T p.D247Y Missense 8/17 - 1
7-128040435-TC-AT c.737_738delinsAT p.R246H Missense 8/17 - 1
7-128040436-C-T c.737G>A p.R246Q Missense 8/17 - 1
7-128040436-TCGGGAGGTGAC-T c.727_737del p.V243Rfs*7 Frameshift 8/17 - 1
7-128040438-G-A c.735C>T p.S245= Synonymous 8/17 - 2
7-128040438-G-C c.735C>G p.S245= Synonymous 8/17 - 1
7-128040438-G-T c.735C>A p.S245= Synonymous 8/17 - 1
7-128040441-G-A c.732C>T p.T244= Synonymous 8/17 - 2
7-128040441-G-C c.732C>G p.T244= Synonymous 8/17 - 1
7-128040441-G-T c.732C>A p.T244= Synonymous 8/17 - 1
7-128040443-T-C c.730A>G p.T244A Missense 8/17 - 1
7-128040444-G-A c.729C>T p.V243= Synonymous 8/17 - 2
7-128040444-G-C c.729C>G p.V243= Synonymous 8/17 - 2
7-128040444-G-T c.729C>A p.V243= Synonymous 8/17 - 2
7-128040445-A-G c.728T>C p.V243A Missense 8/17 - 1
7-128040446-C-T c.727G>A p.V243I Missense 8/17 - 2
7-128040449-T-C c.724A>G p.I242V Missense 8/17 - 5
7-128040453-C-A c.720G>T p.V240= Synonymous 8/17 - 1
7-128040456-C-A c.717G>T p.L239= Synonymous 8/17 - 5
7-128040456-C-G c.717G>C p.L239= Synonymous 8/17 - 7
7-128040456-C-T c.717G>A p.L239= Synonymous 8/17 - 5
7-128040458-G-A c.715C>T p.L239= Synonymous 8/17 - 5
7-128040460-T-C c.713A>G p.K238R Missense 8/17 - 1
7-128040461-T-A c.712A>T p.K238* Nonsense 8/17 - 1
7-128040461-T-C c.712A>G p.K238E Missense 8/17 - 4
7-128040463-C-G c.710G>C p.S237T Missense 8/17 - 1
7-128040467-C-A c.706G>T p.G236C Missense 8/17 - 1
7-128040468-C-A c.705G>T p.M235I Missense 8/17 - 3
7-128040468-C-G c.705G>C p.M235I Missense 8/17 - 2
7-128040468-C-T c.705G>A p.M235I Missense 8/17 - 2
7-128040470-T-C c.703A>G p.M235V Missense 8/17 - 1
7-128040471-G-A c.702C>T p.T234= Synonymous 8/17 - 1
7-128040471-G-C c.702C>G p.T234= Synonymous 8/17 - 1
7-128040471-G-T c.702C>A p.T234= Synonymous 8/17 - 1
7-128040471-TGG-T c.701_702del p.T234Nfs*19 Frameshift 8/17 - 1
7-128040472-G-GCAC c.700_701insGTG p.T234delinsSA MultiAAMissense 8/17 - 1
7-128040477-C-A c.696G>T p.T232= Synonymous 8/17 - 1
7-128040477-C-G c.696G>C p.T232= Synonymous 8/17 - 1
7-128040477-C-T c.696G>A p.T232= Synonymous 8/17 - 1
7-128040478-G-A c.695C>T p.T232M Missense 8/17 - 1
7-128040479-T-C c.694A>G p.T232A Missense 8/17 - 1
7-128040488-T-C c.685A>G p.I229V Missense 8/17 - 1
7-128040488-T-G c.685A>C p.I229L Missense 8/17 - 1
7-128040489-G-A c.684C>T p.P228= Synonymous 8/17 - 1
7-128040496-C-A c.677G>T p.G226V Missense 8/17 - 1
7-128040496-C-T c.677G>A p.G226D Missense 8/17 - 2
7-128040496-GCCAGAGAAGCC-G c.667_677del p.G223Hfs*5 Frameshift 8/17 - 1
7-128040497-C-T c.676G>A p.G226S Missense 8/17 - 1
7-128040502-A-ACAC c.670_671insGTG p.F224delinsCV MultiAAMissense 8/17 - 1
7-128040509-G-A c.664C>T p.H222Y Missense 8/17 - 1
7-128040512-G-A c.661C>T p.R221W Missense 8/17 - 2
7-128040516-C-G c.657G>C p.K219N Missense 8/17 - 1
7-128040518-T-TG c.654dup p.K219Qfs*13 Frameshift 8/17 - 1
7-128040524-C-A c.649G>T p.E217* Nonsense 8/17 - 1
7-128040524-C-CA c.648_649insT p.E217* Nonsense 8/17 - 1
7-128040528-C-A c.645G>T p.V215= Synonymous 8/17 - 1
7-128040533-C-T c.640G>A p.D214N Missense 8/17 - 1
7-128040539-C-T c.634G>A p.V212M Missense 8/17 - 2
7-128040540-A-C c.633T>G p.T211= Synonymous 8/17 - 1
7-128040540-A-G c.633T>C p.T211= Synonymous 8/17 - 1
7-128040540-A-T c.633T>A p.T211= Synonymous 8/17 - 1
7-128040541-G-A c.632C>T p.T211I Missense 8/17 - 1
7-128040543-G-A c.630C>T p.H210= Synonymous 8/17 - 2
7-128040546-C-A c.627G>T p.S209= Synonymous 8/17 - 2
7-128040546-C-G c.627G>C p.S209= Synonymous 8/17 - 2
7-128040546-CGA-GTT c.625_627delinsAAC p.S209N Missense 8/17 - 1
7-128040546-C-T c.627G>A p.S209= Synonymous 8/17 - 3
7-128040549-G-C c.624C>G p.P208= Synonymous 8/17 - 1
7-128040565-G-C c.608C>G p.P203R Missense 8/17 - 1
7-128040568-T-A c.605A>T p.D202V Missense 8/17 - 1
7-128040570-CCG-C c.602_603del p.T201Rfs*30 Frameshift 8/17 - 1
7-128040570-C-T c.603G>A p.T201= Synonymous 8/17 - 2
7-128040571-G-A c.602C>T p.T201M Missense 8/17 - 3
7-128040571-G-GCAC c.601_602insGTG p.T201delinsSA MultiAAMissense 8/17 - 1
7-128040574-A-C c.599T>G p.I200S Missense 8/17 - 1
7-128040580-C-G c.593G>C p.G198A Missense 8/17 - 1
7-128040579-G-GCCA c.593_594insTGG p.G198dup InFrameInsertion 8/17 - 1
7-128040583-T-G c.590A>C p.Q197P Missense 8/17 - 1
7-128040587-C-G c.586G>C p.E196Q Missense 8/17 - 1
7-128040587-C-T c.586G>A p.E196K Missense 8/17 - 1
7-128040662-G-A c.580-69C>T - IntronicSNV - 7/16 1
7-128040699-C-T c.580-106G>A - IntronicSNV - 7/16 33
7-128040752-C-T c.579+119G>A - IntronicSNV - 7/16 27
7-128040855-C-A c.579+16G>T - IntronicSNV - 7/16 1
7-128040877-C-A c.573G>T p.K191N Missense 7/17 - 1
7-128040877-C-G c.573G>C p.K191N Missense 7/17 - 1
7-128040881-C-A c.569G>T p.R190L Missense 7/17 - 1
7-128040881-C-G c.569G>C p.R190P Missense 7/17 - 1
7-128040882-G-A c.568C>T p.R190W Missense 7/17 - 7
7-128040884-AC-GT c.565_566inv p.V189T Missense 7/17 - 1
7-128040888-C-T c.562G>A p.E188K Missense 7/17 - 1
7-128040898-G-A c.552C>T p.F184= Synonymous 7/17 - 2
7-128040900-A-C c.550T>G p.F184V Missense 7/17 - 2
7-128040900-A-G c.550T>C p.F184L Missense 7/17 - 1
7-128040902-TC-AG c.547_548delinsCT p.E183L Missense 7/17 - 1
7-128040918-G-C c.532C>G p.H178D Missense 7/17 - 1
7-128040921-G-A c.529C>T p.H177Y Missense 7/17 - 1
7-128040924-T-C c.526A>G p.I176V Missense 7/17 - 1
7-128040930-C-A c.520G>T p.G174C Missense 7/17 - 2
7-128040932-A-G c.518T>C p.I173T Missense 7/17 - 1
7-128040934-ACC-CCA c.514_516delinsTGG p.G172W Missense 7/17 - 1
7-128040937-TC-GT c.512_513delinsAC p.G171D Missense 7/17 - 1
7-128040938-C-T c.512G>A p.G171E Missense 7/17 - 1
7-128040939-C-T c.511G>A p.G171R Missense 7/17 - 1
7-128040955-A-G c.505-10T>C - IntronicSNV - 6/16 1
7-128040979-G-T c.505-34C>A - IntronicSNV - 6/16 2
7-128041070-G-T c.503C>A p.A168D Missense 6/17 - 1
7-128041077-C-T c.496G>A p.A166T Missense 6/17 - 1
7-128041086-T-C c.487A>G p.M163V Missense 6/17 - 1
7-128041089-C-A c.484G>T p.D162Y Missense 6/17 - 3
7-128041089-C-T c.484G>A p.D162N Missense 6/17 - 1
7-128041091-G-A c.482C>T p.A161V Missense 6/17 - 2
7-128041092-C-T c.481G>A p.A161T Missense 6/17 - 1
7-128041096-T-A c.477A>T p.T159= Synonymous 6/17 - 1
7-128041096-T-C c.477A>G p.T159= Synonymous 6/17 - 1
7-128041096-T-G c.477A>C p.T159= Synonymous 6/17 - 1
7-128041096-TGT-GTC c.475_477delinsGAC p.T159D Missense 6/17 - 1
7-128041104-T-G c.469A>C p.T157P Missense 6/17 - 1
7-128041110-T-C c.463A>G p.M155V Missense 6/17 - 2
7-128041111-G-A c.462C>T p.P154= Synonymous 6/17 - 1
7-128041113-G-A c.460C>T p.P154S Missense 6/17 - 1
7-128041115-G-A c.458C>T p.S153F Missense 6/17 - 2
7-128041118-G-A c.455C>T p.S152F Missense 6/17 - 1
7-128041118-G-T c.455C>A p.S152Y Missense 6/17 - 2
7-128041124-AGT-A c.447_448del p.L150Dfs*12 Frameshift 6/17 - 1
7-128041127-G-GCAC c.445_446insGTG p.P149delinsRA MultiAAMissense 6/17 - 1
7-128041129-C-A c.444G>T p.T148= Synonymous 6/17 - 1
7-128041129-C-G c.444G>C p.T148= Synonymous 6/17 - 1
7-128041129-C-T c.444G>A p.T148= Synonymous 6/17 - 1
7-128041130-G-A c.443C>T p.T148M Missense 6/17 - 2
7-128041130-G-C c.443C>G p.T148R Missense 6/17 - 1
7-128041131-T-G c.442A>C p.T148P Missense 6/17 - 1
7-128041136-A-T c.437T>A p.L146Q Missense 6/17 - 2
7-128041138-C-T c.435G>A p.T145= Synonymous 6/17 - 1
7-128041141-TGA-T c.431_432del p.I144Nfs*18 Frameshift 6/17 - 1
7-128041142-A-ACAC c.430_431insGTG p.I144delinsSV MultiAAMissense 6/17 - 1
7-128041145-T-G c.428A>C p.K143T Missense 6/17 - 1
7-128041149-G-A c.424C>T p.R142W Missense 6/17 - 1
7-128041149-G-T c.424C>A p.R142= Synonymous 6/17 - 1
7-128041157-G-A c.416C>T p.A139V Missense 6/17 - 1
7-128041157-G-T c.416C>A p.A139D Missense 6/17 - 1
7-128041163-G-T c.410C>A p.T137N Missense 6/17 - 5
7-128041169-T-G c.404A>C p.D135A Missense 6/17 - 1
7-128041170-C-T c.403G>A p.D135N Missense 6/17 - 2
7-128041339-A-G c.403-169T>C - IntronicSNV - 5/16 6
7-128041658-A-C c.403-488T>G - IntronicSNV - 5/16 1
7-128042767-T-G c.402+993A>C - IntronicSNV - 5/16 1
7-128042766-GT-G c.402+993del - IntronicDeletion - 5/16 1
7-128043440-C-T c.402+320G>A - IntronicSNV - 5/16 1
7-128043612-CAA-C c.402+146_402+147del - IntronicDeletion - 5/16 2
7-128043612-CA-C c.402+147del - IntronicDeletion - 5/16 1
7-128043612-C-CA c.402+147dup - IntronicInsertion - 5/16 1
7-128043643-TC-T c.402+116del - IntronicDeletion - 5/16 1
7-128043703-C-T c.402+57G>A - IntronicSNV - 5/16 2
7-128043758-A-G c.402+2T>C - IntronicSNV - 5/16 1
7-128043759-C-A c.402+1G>T - IntronicSNV - 5/16 2
7-128043768-C-T c.394G>A p.D132N Missense 5/17 - 1
7-128043773-A-C c.389T>G p.I130R Missense 5/17 - 1
7-128043778-G-A c.384C>T p.D128= Synonymous 5/17 - 1
7-128043780-C-T c.382G>A p.D128N Missense 5/17 - 1
7-128043788-C-T c.374G>A p.G125E Missense 5/17 - 2
7-128043789-C-G c.373G>C p.G125R Missense 5/17 - 1
7-128043789-C-T c.373G>A p.G125R Missense 5/17 - 1
7-128043791-G-GCAC c.370_371insGTG p.P124delinsRA MultiAAMissense 5/17 - 1
7-128043800-A-G c.362T>C p.L121P Missense 5/17 - 1
7-128043801-G-A c.361C>T p.L121= Synonymous 5/17 - 1
7-128043807-C-T c.355G>A p.D119N Missense 5/17 - 2
7-128044035-A-C c.354-227T>G - IntronicSNV - 4/16 4
7-128044035-A-G c.354-227T>C - IntronicSNV - 4/16 4
7-128045701-G-T c.353+120C>A - IntronicSNV - 4/16 1
7-128045775-C-T c.353+46G>A - IntronicSNV - 4/16 1
7-128045814-C-A c.353+7G>T - IntronicSNV - 4/16 1
7-128045814-C-G c.353+7G>C - IntronicSNV - 4/16 1
7-128045826-GG-CA c.347_348delinsTG p.T116M Missense 4/17 - 9
7-128045829-G-A c.345C>T p.L115= Synonymous 4/17 - 1
7-128045829-G-C c.345C>G p.L115= Synonymous 4/17 - 1
7-128045829-G-T c.345C>A p.L115= Synonymous 4/17 - 1
7-128045842-C-A c.332G>T p.S111I Missense 4/17 - 2
7-128045845-G-T c.329C>A p.A110D Missense 4/17 - 1
7-128045847-G-T c.327C>A p.F109L Missense 4/17 - 1
7-128045861-C-T c.313G>A p.A105T Missense 4/17 - 1
7-128045863-G-T c.311C>A p.T104N Missense 4/17 - 2
7-128045876-C-T c.298G>A p.E100K Missense 4/17 - 1
7-128045877-G-A c.297C>T p.P99= Synonymous 4/17 - 3
7-128045882-C-A c.292G>T p.V98L Missense 4/17 - 1
7-128045888-C-T c.286G>A p.G96S Missense 4/17 - 1
7-128045890-G-A c.284C>T p.T95I Missense 4/17 - 2
7-128045891-T-C c.283A>G p.T95A Missense 4/17 - 1
7-128045895-GC-CT c.278_279delinsAG p.G93E Missense 4/17 - 1
7-128045897-C-G c.277G>C p.G93R Missense 4/17 - 1
7-128045898-G-A c.276C>T p.S92= Synonymous 4/17 - 1
7-128045903-T-A c.271A>T p.I91F Missense 4/17 - 1
7-128045916-C-A c.258G>T p.M86I Missense 4/17 - 1
7-128045917-A-ACAAACAAAAATTCTGCCT c.256_257insAGGCAGAATTTTTGTTTG p.M86delinsKAEFLFV SpliceAcceptorInsertion 4/17 - 1
7-128045955-G-A c.255-36C>T - IntronicSNV - 3/16 1
7-128045955-G-T c.255-36C>A - IntronicSNV - 3/16 1
7-128045977-C-G c.255-58G>C - IntronicSNV - 3/16 1
7-128046449-T-G c.255-530A>C - IntronicSNV - 3/16 1
7-128046450-C-T c.255-531G>A - IntronicSNV - 3/16 1
7-128046632-C-T c.255-713G>A - IntronicSNV - 3/16 1
7-128046742-C-A c.255-823G>T - IntronicSNV - 3/16 1
7-128046742-C-T c.255-823G>A - IntronicSNV - 3/16 1
7-128046769-T-G c.255-850A>C - IntronicSNV - 3/16 1
7-128048194-T-C c.254+1149A>G - IntronicSNV - 3/16 1
7-128049339-T-G c.254+4A>C - IntronicSNV - 3/16 1
7-128049345-A-G c.252T>C p.A84= Synonymous 3/17 - 1
7-128049348-C-T c.249G>A p.R83= Synonymous 3/17 - 1
7-128049349-C-G c.248G>C p.R83T UnclassifiedSNV 3/17 - 1
7-128049353-G-A c.244C>T p.R82C Missense 3/17 - 1
7-128049358-C-T c.239G>A p.R80H Missense 3/17 - 1
7-128049361-T-G c.236A>C p.D79A Missense 3/17 - 2
7-128049363-C-A c.234G>T p.M78I Missense 3/17 - 1
7-128049370-A-G c.227T>C p.V76A Missense 3/17 - 1
7-128049371-C-G c.226G>C p.V76L Missense 3/17 - 1
7-128049373-C-G c.224G>C p.G75A Missense 3/17 - 1
7-128049372-AC-A c.224del p.G75Vfs*16 Frameshift 3/17 - 1
7-128049375-A-C c.222T>G p.V74= Synonymous 3/17 - 1
7-128049375-A-G c.222T>C p.V74= Synonymous 3/17 - 1
7-128049375-A-T c.222T>A p.V74= Synonymous 3/17 - 1
7-128049379-C-G c.218G>C p.G73A Missense 3/17 - 1
7-128049386-G-A c.211C>T p.L71= Synonymous 3/17 - 1
7-128049388-A-G c.209T>C p.L70S Missense 3/17 - 1
7-128049400-G-C c.197C>G p.S66C Missense 3/17 - 1
7-128049446-C-T c.191-40G>A - IntronicSNV - 2/16 1
7-128049496-T-A c.189A>T p.S63= Synonymous 2/17 - 1
7-128049496-T-C c.189A>G p.S63= Synonymous 2/17 - 3
7-128049496-T-G c.189A>C p.S63= Synonymous 2/17 - 1
7-128049497-G-C c.188C>G p.S63* Nonsense 2/17 - 1
7-128049497-G-T c.188C>A p.S63* Nonsense 2/17 - 2
7-128049498-A-G c.187T>C p.S63P Missense 2/17 - 2
7-128049500-C-T c.185G>A p.R62H Missense 2/17 - 1
7-128049501-G-A c.184C>T p.R62C Missense 2/17 - 2
7-128049501-G-C c.184C>G p.R62G Missense 2/17 - 1
7-128049501-G-T c.184C>A p.R62S Missense 2/17 - 1
7-128049504-G-A c.181C>T p.P61S Missense 2/17 - 1
7-128049506-G-A c.179C>T p.T60I Missense 2/17 - 3
7-128049508-C-T c.177G>A p.T59= Synonymous 2/17 - 1
7-128049509-G-A c.176C>T p.T59M Missense 2/17 - 1
7-128049512-G-T c.173C>A p.P58Q Missense 2/17 - 1
7-128049515-T-C c.170A>G p.H57R Missense 2/17 - 2
7-128049515-TG-CT c.169_170delinsAG p.H57S Missense 2/17 - 1
7-128049515-TG-GC c.169_170delinsGC p.H57A Missense 2/17 - 1
7-128049519-T-C c.166A>G p.T56A Missense 2/17 - 1
7-128049521-G-T c.164C>A p.A55D Missense 2/17 - 1
7-128049523-G-A c.162C>T p.L54= Synonymous 2/17 - 1
7-128049524-A-C c.161T>G p.L54R Missense 2/17 - 1
7-128049529-C-A c.156G>T p.L52F Missense 2/17 - 1
7-128049529-C-G c.156G>C p.L52F Missense 2/17 - 1
7-128049533-C-A c.152G>T p.R51I Missense 2/17 - 1
7-128049533-C-T c.152G>A p.R51K Missense 2/17 - 1
7-128049534-T-A c.151A>T p.R51* Nonsense 2/17 - 1
7-128049537-G-A c.148C>T p.P50S Missense 2/17 - 1
7-128049564-G-C c.147-26C>G - IntronicSNV - 1/16 1
7-128049564-G-T c.147-26C>A - IntronicSNV - 1/16 1
7-128049573-C-T c.147-35G>A - IntronicSNV - 1/16 5
7-128049590-C-A c.147-52G>T - IntronicSNV - 1/16 4
7-128049590-C-T c.147-52G>A - IntronicSNV - 1/16 4
7-128049701-T-A c.146+109A>T - IntronicSNV - 1/16 6
7-128049814-C-A c.142G>T p.E48* Nonsense 1/17 - 1
7-128049814-C-T c.142G>A p.E48K Missense 1/17 - 2
7-128049818-C-T c.138G>A p.E46= Synonymous 1/17 - 1
7-128049819-T-C c.137A>G p.E46G Missense 1/17 - 1
7-128049824-G-A c.132C>T p.G44= Synonymous 1/17 - 1
7-128049824-G-C c.132C>G p.G44= Synonymous 1/17 - 1
7-128049824-G-T c.132C>A p.G44= Synonymous 1/17 - 2
7-128049825-C-A c.131G>T p.G44V Missense 1/17 - 1
7-128049833-C-A c.123G>T p.L41= Synonymous 1/17 - 1
7-128049836-CAG-AAA c.118_120delinsTTT p.L40F Missense 1/17 - 1
7-128049837-A-T c.119T>A p.L40Q Missense 1/17 - 1
7-128049839-TCG-ACA c.115_117delinsTGT p.R39C Missense 1/17 - 1
7-128049840-C-A c.116G>T p.R39L Missense 1/17 - 1
7-128049841-G-A c.115C>T p.R39* Nonsense 1/17 - 1
7-128049842-G-A c.114C>T p.A38= Synonymous 1/17 - 1
7-128049842-G-C c.114C>G p.A38= Synonymous 1/17 - 1
7-128049842-G-T c.114C>A p.A38= Synonymous 1/17 - 1
7-128049844-C-T c.112G>A p.A38T Missense 1/17 - 1
7-128049845-G-T c.111C>A p.S37R Missense 1/17 - 1
7-128049852-C-T c.104G>A p.R35Q Missense 1/17 - 1
7-128049854-C-A c.102G>T p.Q34H Missense 1/17 - 1
7-128049854-C-G c.102G>C p.Q34H Missense 1/17 - 1
7-128049861-G-T c.95C>A p.A32E Missense 1/17 - 1
7-128049874-C-G c.82G>C p.G28R Missense 1/17 - 1
7-128049874-C-T c.82G>A p.G28R Missense 1/17 - 1
7-128049875-C-T c.81G>A p.P27= Synonymous 1/17 - 1
7-128049876-G-A c.80C>T p.P27L Missense 1/17 - 1
7-128049882-T-C c.74A>G p.Q25R Missense 1/17 - 1
7-128049883-G-C c.73C>G p.Q25E Missense 1/17 - 1
7-128049885-C-G c.71G>C p.R24P Missense 1/17 - 2
7-128049885-C-T c.71G>A p.R24Q Missense 1/17 - 1
7-128049887-GGC-CAT c.67_69delinsATG p.A23M Missense 1/17 - 1
7-128049888-G-A c.68C>T p.A23V Missense 1/17 - 1
7-128049888-GC-CA c.67_68delinsTG p.A23C Missense 1/17 - 1
7-128049889-C-A c.67G>T p.A23S Missense 1/17 - 1
7-128049893-G-A c.63C>T p.P21= Synonymous 1/17 - 1
7-128049893-G-C c.63C>G p.P21= Synonymous 1/17 - 1
7-128049893-G-T c.63C>A p.P21= Synonymous 1/17 - 1
7-128049901-G-A c.55C>T p.P19S Missense 1/17 - 1
7-128049904-C-T c.52G>A p.V18I Missense 1/17 - 2
7-128049905-AGC-TTG c.49_51delinsCAA p.A17Q Missense 1/17 - 1
7-128049906-G-A c.50C>T p.A17V Missense 1/17 - 1
7-128049906-GC-AG c.49_50delinsCT p.A17L Missense 1/17 - 2
7-128049906-G-T c.50C>A p.A17D Missense 1/17 - 1
7-128049908-GGC-TTA c.46_48delinsTAA p.A16* Nonsense 1/17 - 1
7-128049909-GC-AA c.46_47delinsTT p.A16F Missense 1/17 - 1
7-128049909-GC-TA c.46_47delinsTA p.A16Y Missense 1/17 - 2
7-128049914-T-A c.42A>T p.G14= Synonymous 1/17 - 1
7-128049914-T-C c.42A>G p.G14= Synonymous 1/17 - 1
7-128049914-T-G c.42A>C p.G14= Synonymous 1/17 - 1
7-128049918-C-T c.38G>A p.G13D Missense 1/17 - 2
7-128049920-T-C c.36A>G p.G12= Synonymous 1/17 - 1
7-128049920-TCC-ACA c.34_36delinsTGT p.G12C Missense 1/17 - 1
7-128049920-TCC-GCT c.34_36delinsAGC p.G12S Missense 1/17 - 1
7-128049920-TC-GT c.35_36delinsAC p.G12D Missense 1/17 - 1
7-128049921-C-A c.35G>T p.G12V Missense 1/17 - 2
7-128049921-C-G c.35G>C p.G12A Missense 1/17 - 1
7-128049922-C-G c.34G>C p.G12R Missense 1/17 - 1
7-128049922-C-T c.34G>A p.G12R Missense 1/17 - 1
7-128049924-T-C c.32A>G p.Q11R Missense 1/17 - 1
7-128049926-C-T c.30G>A p.L10= Synonymous 1/17 - 1
7-128049927-A-T c.29T>A p.L10Q Missense 1/17 - 1
7-128049929-C-A c.27G>T p.P9= Synonymous 1/17 - 1
7-128049929-C-G c.27G>C p.P9= Synonymous 1/17 - 1
7-128049929-C-T c.27G>A p.P9= Synonymous 1/17 - 1
7-128049933-G-T c.23C>A p.P8Q Missense 1/17 - 1
7-128049934-G-A c.22C>T p.P8S Missense 1/17 - 1
7-128049939-G-A c.17C>T p.T6I Missense 1/17 - 1
7-128049941-G-T c.15C>A p.L5= Synonymous 1/17 - 1
7-128049944-T-A c.12A>T p.P4= Synonymous 1/17 - 1
7-128049944-T-C c.12A>G p.P4= Synonymous 1/17 - 1
7-128049944-T-G c.12A>C p.P4= Synonymous 1/17 - 1
7-128049948-C-T c.8G>A p.G3E Missense 1/17 - 1
7-128049991-A-G c.-36T>C - 5-UTRSNV 1/17 - 1
7-128049991-A-T c.-36T>A - 5-UTRSNV 1/17 - 1
7-128050015-A-G c.-60T>C - 5-UTRSNV 1/17 - 1
7-128050024-A-C c.-69T>G - 5-UTRSNV 1/17 - 1