KCND1

KCND1 potassium voltage-gated channel subfamily D member 1

Annotation transcript: NM_004979.6

608 unique variant annotations were identified in 248 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
X-48819843-C-T c.1943G>A p.*648= Synonymous 6/6 - 1
X-48819849-G-A c.1937C>T p.S646F Missense 6/6 - 6
X-48819857-C-A c.1929G>T p.K643N Missense 6/6 - 1
X-48819868-C-T c.1918G>A p.E640K Missense 6/6 - 1
X-48819869-G-C c.1917C>G p.P639= Synonymous 6/6 - 2
X-48819870-G-T c.1916C>A p.P639H Missense 6/6 - 1
X-48819878-G-A c.1908C>T p.C636= Synonymous 6/6 - 1
X-48819883-G-T c.1903C>A p.P635T Missense 6/6 - 1
X-48819886-T-A c.1900A>T p.T634S Missense 6/6 - 2
X-48819889-C-T c.1897G>A p.G633S Missense 6/6 - 5
X-48819890-C-A c.1896G>T p.L632= Synonymous 6/6 - 1
X-48819895-T-C c.1891A>G p.S631G Missense 6/6 - 1
X-48819902-C-T c.1884G>A p.R628= Synonymous 6/6 - 1
X-48819903-C-T c.1883G>A p.R628K Missense 6/6 - 1
X-48819909-G-C c.1877C>G p.T626S Missense 6/6 - 1
X-48819916-C-A c.1870G>T p.G624C Missense 6/6 - 1
X-48819916-C-T c.1870G>A p.G624S Missense 6/6 - 6
X-48819917-G-A c.1869C>T p.A623= Synonymous 6/6 - 2
X-48819917-G-C c.1869C>G p.A623= Synonymous 6/6 - 1
X-48819917-G-T c.1869C>A p.A623= Synonymous 6/6 - 1
X-48819923-G-A c.1863C>T p.G621= Synonymous 6/6 - 1
X-48819923-G-C c.1863C>G p.G621= Synonymous 6/6 - 1
X-48819923-G-T c.1863C>A p.G621= Synonymous 6/6 - 1
X-48819923-G-GC c.1862dup p.R622Qfs*79 Frameshift 6/6 - 1
X-48819927-C-T c.1859G>A p.G620D Missense 6/6 - 1
X-48819928-C-T c.1858G>A p.G620S Missense 6/6 - 5
X-48819929-G-A c.1857C>T p.G619= Synonymous 6/6 - 4
X-48819929-G-C c.1857C>G p.G619= Synonymous 6/6 - 2
X-48819929-G-T c.1857C>A p.G619= Synonymous 6/6 - 2
X-48819931-C-T c.1855G>A p.G619S Missense 6/6 - 1
X-48819932-G-A c.1854C>T p.G618= Synonymous 6/6 - 2
X-48819934-C-T c.1852G>A p.G618S Missense 6/6 - 1
X-48819937-G-A c.1849C>T p.P617S Missense 6/6 - 1
X-48819938-GG-TT c.1847_1848delinsAA p.S616* Nonsense 6/6 - 1
X-48819939-G-A c.1847C>T p.S616F Missense 6/6 - 6
X-48819941-G-A c.1845C>T p.S615= Synonymous 6/6 - 1
X-48819941-G-C c.1845C>G p.S615= Synonymous 6/6 - 1
X-48819941-G-T c.1845C>A p.S615= Synonymous 6/6 - 2
X-48819942-G-A c.1844C>T p.S615F Missense 6/6 - 1
X-48819946-GGT-G c.1839_1840del p.Q613Hfs*87 Frameshift 6/6 - 1
X-48819949-G-A c.1837C>T p.Q613* Nonsense 6/6 - 1
X-48819950-G-A c.1836C>T p.S612= Synonymous 6/6 - 1
X-48819951-C-G c.1835G>C p.S612T Missense 6/6 - 1
X-48819953-C-A c.1833G>T p.E611D Missense 6/6 - 1
X-48819953-C-G c.1833G>C p.E611D Missense 6/6 - 1
X-48819956-A-C c.1830T>G p.D610E Missense 6/6 - 1
X-48819961-G-C c.1825C>G p.P609A Missense 6/6 - 1
X-48819961-G-T c.1825C>A p.P609T Missense 6/6 - 1
X-48819962-G-A c.1824C>T p.T608= Synonymous 6/6 - 1
X-48819962-G-C c.1824C>G p.T608= Synonymous 6/6 - 1
X-48819962-G-T c.1824C>A p.T608= Synonymous 6/6 - 1
X-48819963-G-T c.1823C>A p.T608N Missense 6/6 - 1
X-48819965-G-A c.1821C>T p.N607= Synonymous 6/6 - 1
X-48819969-G-A c.1817C>T p.A606V Missense 6/6 - 3
X-48819974-A-G c.1812T>C p.P604= Synonymous 6/6 - 1
X-48819975-G-A c.1811C>T p.P604L Missense 6/6 - 2
X-48819976-G-A c.1810C>T p.P604S Missense 6/6 - 2
X-48819977-G-A c.1809C>T p.T603= Synonymous 6/6 - 1
X-48819981-G-A c.1805C>T p.P602L Missense 6/6 - 1
X-48820004-G-A c.1782C>T p.F594= Synonymous 6/6 - 3
X-48820012-G-A c.1774C>T p.R592W Missense 6/6 - 2
X-48820018-C-T c.1768G>A p.D590N Missense 6/6 - 1
X-48820019-G-A c.1767C>T p.C589= Synonymous 6/6 - 3
X-48820022-G-C c.1764C>G p.N588K Missense 6/6 - 2
X-48820022-G-T c.1764C>A p.N588K Missense 6/6 - 2
X-48820025-C-A c.1761G>T p.L587= Synonymous 6/6 - 1
X-48820025-C-G c.1761G>C p.L587= Synonymous 6/6 - 1
X-48820025-C-T c.1761G>A p.L587= Synonymous 6/6 - 1
X-48820027-G-A c.1759C>T p.L587= Synonymous 6/6 - 1
X-48820029-T-A c.1757A>T p.D586V Missense 6/6 - 4
X-48820033-G-T c.1753C>A p.L585I Missense 6/6 - 1
X-48820046-C-T c.1740G>A p.K580= Synonymous 6/6 - 1
X-48820055-G-C c.1731C>G p.L577= Synonymous 6/6 - 1
X-48820056-A-G c.1730T>C p.L577P Missense 6/6 - 2
X-48820059-C-T c.1727G>A p.S576N Missense 6/6 - 2
X-48820060-T-C c.1726A>G p.S576G Missense 6/6 - 1
X-48820062-G-C c.1724C>G p.S575C Missense 6/6 - 1
X-48820063-A-C c.1723T>G p.S575A Missense 6/6 - 6
X-48820064-G-A c.1722C>T p.R574= Synonymous 6/6 - 5
X-48820066-G-A c.1720C>T p.R574C Missense 6/6 - 3
X-48820189-G-A c.1719-122C>T - IntronicSNV - 5/5 1
X-48822314-G-A c.1718+148C>T - IntronicSNV - 5/5 1
X-48822469-G-A c.1711C>T p.P571S Missense 5/6 - 1
X-48822475-G-A c.1705C>T p.H569Y Missense 5/6 - 2
X-48822477-CT-GC c.1702_1703delinsGC p.S568A Missense 5/6 - 1
X-48822484-G-A c.1696C>T p.R566C Missense 5/6 - 1
X-48822490-C-G c.1690G>C p.G564R Missense 5/6 - 1
X-48822493-C-T c.1687G>A p.A563T Missense 5/6 - 1
X-48822496-G-T c.1684C>A p.L562M Missense 5/6 - 1
X-48822497-C-A c.1683G>T p.M561I Missense 5/6 - 2
X-48822497-C-G c.1683G>C p.M561I Missense 5/6 - 2
X-48822497-C-T c.1683G>A p.M561I Missense 5/6 - 2
X-48822499-T-C c.1681A>G p.M561V Missense 5/6 - 1
X-48822506-C-A c.1674G>T p.E558D Missense 5/6 - 2
X-48822506-C-G c.1674G>C p.E558D Missense 5/6 - 2
X-48822508-C-T c.1672G>A p.E558K Missense 5/6 - 2
X-48822516-CT-GC c.1663_1664delinsGC p.S555A Missense 5/6 - 1
X-48822519-C-A c.1661G>T p.G554V Missense 5/6 - 3
X-48822524-G-A c.1656C>T p.S552= Synonymous 5/6 - 1
X-48822525-C-T c.1655G>A p.S552N Missense 5/6 - 1
X-48822539-G-A c.1641C>T p.S547= Synonymous 5/6 - 3
X-48822550-G-T c.1630C>A p.L544I Missense 5/6 - 1
X-48822553-G-A c.1627C>T p.R543C Missense 5/6 - 3
X-48822559-C-T c.1621G>A p.A541T Missense 5/6 - 1
X-48822562-G-A c.1618C>T p.R540C Missense 5/6 - 1
X-48822564-C-G c.1616G>C p.R539P Missense 5/6 - 1
X-48822565-G-A c.1615C>T p.R539C Missense 5/6 - 6
X-48822567-T-C c.1613A>G p.K538R Missense 5/6 - 1
X-48822572-CCT-ATG c.1606_1608delinsCAT p.R536H Missense 5/6 - 1
X-48822575-G-A c.1605C>T p.R535= Synonymous 5/6 - 1
X-48822575-G-C c.1605C>G p.R535= Synonymous 5/6 - 1
X-48822575-G-T c.1605C>A p.R535= Synonymous 5/6 - 1
X-48822576-C-T c.1604G>A p.R535H Missense 5/6 - 1
X-48822577-G-A c.1603C>T p.R535C Missense 5/6 - 1
X-48822577-G-C c.1603C>G p.R535G Missense 5/6 - 1
X-48822581-G-T c.1599C>A p.C533* Nonsense 5/6 - 1
X-48822582-C-A c.1598G>T p.C533F Missense 5/6 - 3
X-48822585-C-A c.1595G>T p.C532F Missense 5/6 - 1
X-48822589-A-C c.1591T>G p.S531A Missense 5/6 - 1
X-48822603-C-T c.1577G>A p.G526E Missense 5/6 - 1
X-48822609-C-T c.1571G>A p.G524E Missense 5/6 - 2
X-48822617-C-T c.1563G>A p.Q521= Synonymous 5/6 - 1
X-48822625-A-G c.1555T>C p.S519P Missense 5/6 - 1
X-48822630-G-A c.1550C>T p.S517F Missense 5/6 - 1
X-48822630-GA-TT c.1549_1550delinsAA p.S517N Missense 5/6 - 1
X-48822632-G-A c.1548C>T p.T516= Synonymous 5/6 - 1
X-48822632-G-C c.1548C>G p.T516= Synonymous 5/6 - 1
X-48822632-G-T c.1548C>A p.T516= Synonymous 5/6 - 1
X-48822636-C-A c.1544G>T p.S515I Missense 5/6 - 2
X-48822640-G-A c.1540C>T p.R514C Missense 5/6 - 4
X-48822642-CT-AA c.1537_1538delinsTT p.S513F Missense 5/6 - 1
X-48822646-T-G c.1534A>C p.T512P Missense 5/6 - 3
X-48822648-C-T c.1532G>A p.R511H Missense 5/6 - 1
X-48822649-G-C c.1531C>G p.R511G Missense 5/6 - 1
X-48822652-C-A c.1528G>T p.G510C Missense 5/6 - 1
X-48822656-C-A c.1524G>T p.P508= Synonymous 5/6 - 1
X-48822657-G-A c.1523C>T p.P508L Missense 5/6 - 1
X-48822658-G-C c.1522C>G p.P508A Missense 5/6 - 1
X-48822659-C-A c.1521G>T p.S507= Synonymous 5/6 - 3
X-48822660-G-A c.1520C>T p.S507L Missense 5/6 - 1
X-48822669-C-G c.1511G>C p.G504A Missense 5/6 - 1
X-48822676-C-T c.1504G>A p.A502T Missense 5/6 - 1
X-48822681-CT-AG c.1498_1499inv p.S500L Missense 5/6 - 1
X-48822694-C-G c.1486G>C p.E496Q Missense 5/6 - 1
X-48822985-C-A c.1467G>T p.T489= Synonymous 4/6 - 1
X-48822985-C-G c.1467G>C p.T489= Synonymous 4/6 - 1
X-48822985-C-T c.1467G>A p.T489= Synonymous 4/6 - 1
X-48822986-G-A c.1466C>T p.T489M Missense 4/6 - 1
X-48822987-T-C c.1465A>G p.T489A Missense 4/6 - 1
X-48822993-T-G c.1459A>C p.K487Q Missense 4/6 - 1
X-48823012-G-A c.1440C>T p.H480= Synonymous 4/6 - 1
X-48823019-T-C c.1433A>G p.H478R Missense 4/6 - 1
X-48823031-A-C c.1421T>G p.F474C Missense 4/6 - 1
X-48823037-G-A c.1415C>T p.S472F Missense 4/6 - 2
X-48823040-C-T c.1412G>A p.R471H Missense 4/6 - 1
X-48823041-G-A c.1411C>T p.R471C Missense 4/6 - 1
X-48823043-T-C c.1409A>G p.N470S Missense 4/6 - 1
X-48823045-C-A c.1407G>T p.R469S Missense 4/6 - 1
X-48823054-A-C c.1398T>G p.L466= Synonymous 4/6 - 1
X-48823056-G-C c.1396C>G p.L466V Missense 4/6 - 4
X-48823056-G-T c.1396C>A p.L466I Missense 4/6 - 1
X-48823068-C-T c.1384G>A p.E462K Missense 4/6 - 1
X-48823069-G-A c.1383C>T p.G461= Synonymous 4/6 - 1
X-48823072-A-G c.1380T>C p.S460= Synonymous 4/6 - 1
X-48823073-CT-AG c.1378_1379inv p.S460L Missense 4/6 - 1
X-48823078-G-A c.1374C>T p.S458= Synonymous 4/6 - 1
X-48823078-G-C c.1374C>G p.S458R Missense 4/6 - 1
X-48823078-G-T c.1374C>A p.S458R Missense 4/6 - 1
X-48823080-T-G c.1372A>C p.S458R Missense 4/6 - 1
X-48823081-G-C c.1371C>G p.D457E Missense 4/6 - 1
X-48823083-C-A c.1369G>T p.D457Y Missense 4/6 - 1
X-48823083-C-T c.1369G>A p.D457N Missense 4/6 - 1
X-48823128-C-T c.1368+40G>A - IntronicSNV - 3/5 1
X-48823167-C-A c.1368+1G>T - IntronicSNV - 3/5 1
X-48823170-C-A c.1366G>T p.E456* Nonsense 3/6 - 1
X-48823175-C-T c.1361G>A p.G454D Missense 3/6 - 1
X-48823176-C-T c.1360G>A p.G454S Missense 3/6 - 2
X-48823197-G-A c.1339C>T p.L447= Synonymous 3/6 - 1
X-48823199-A-T c.1337T>A p.F446Y Missense 3/6 - 1
X-48823203-C-A c.1333G>T p.A445S Missense 3/6 - 1
X-48823210-G-A c.1326C>T p.T442= Synonymous 3/6 - 1
X-48823214-C-A c.1322G>T p.G441V Missense 3/6 - 1
X-48823219-C-T c.1317G>A p.K439= Synonymous 3/6 - 1
X-48823227-A-T c.1309T>A p.L437M Missense 3/6 - 1
X-48823230-G-A c.1306C>T p.R436* Nonsense 3/6 - 1
X-48823233-T-C c.1303A>G p.I435V Missense 3/6 - 1
X-48823238-G-A c.1298C>T p.A433V Missense 3/6 - 1
X-48823241-A-G c.1295T>C p.L432S Missense 3/6 - 1
X-48823244-C-T c.1292G>A p.R431H Missense 3/6 - 1
X-48823245-G-A c.1291C>T p.R431C Missense 3/6 - 3
X-48823248-C-A c.1288G>T p.V430L Missense 3/6 - 1
X-48823248-C-G c.1288G>C p.V430L Missense 3/6 - 1
X-48823352-T-TG c.1282dup p.Q428Pfs*29 SpliceDonorInsertion 2/6 - 1
X-48823363-G-A c.1272C>T p.R424= Synonymous 2/6 - 1
X-48823363-G-C c.1272C>G p.R424= Synonymous 2/6 - 1
X-48823363-G-T c.1272C>A p.R424= Synonymous 2/6 - 1
X-48823365-G-A c.1270C>T p.R424C Missense 2/6 - 1
X-48823376-C-T c.1259G>A p.R420Q Missense 2/6 - 1
X-48823377-G-A c.1258C>T p.R420W Missense 2/6 - 2
X-48823386-G-A c.1249C>T p.Q417* Nonsense 2/6 - 2
X-48823392-A-G c.1243T>C p.Y415H Missense 2/6 - 1
X-48823397-C-T c.1238G>A p.R413H Missense 2/6 - 1
X-48823408-G-A c.1227C>T p.S409= Synonymous 2/6 - 2
X-48823408-G-C c.1227C>G p.S409= Synonymous 2/6 - 2
X-48823408-G-T c.1227C>A p.S409= Synonymous 2/6 - 2
X-48823411-C-A c.1224G>T p.V408= Synonymous 2/6 - 3
X-48823411-C-G c.1224G>C p.V408= Synonymous 2/6 - 3
X-48823411-C-T c.1224G>A p.V408= Synonymous 2/6 - 4
X-48823417-G-A c.1218C>T p.V406= Synonymous 2/6 - 3
X-48823419-C-T c.1216G>A p.V406I Missense 2/6 - 1
X-48823420-T-C c.1215A>G p.P405= Synonymous 2/6 - 1
X-48823422-G-A c.1213C>T p.P405S Missense 2/6 - 1
X-48823423-CAC-GAT c.1210_1212delinsATC p.V404I Missense 2/6 - 1
X-48823430-A-G c.1205T>C p.L402P Missense 2/6 - 4
X-48823446-C-T c.1189G>A p.V397I Missense 2/6 - 1
X-48823447-G-A c.1188C>T p.G396= Synonymous 2/6 - 1
X-48823451-C-T c.1184G>A p.S395N Missense 2/6 - 1
X-48823466-G-T c.1169C>A p.S390Y Missense 2/6 - 1
X-48823469-C-T c.1166G>A p.G389E Missense 2/6 - 1
X-48823470-C-A c.1165G>T p.G389W Missense 2/6 - 1
X-48823471-G-A c.1164C>T p.F388= Synonymous 2/6 - 4
X-48823473-A-C c.1162T>G p.F388V Missense 2/6 - 3
X-48823474-A-C c.1161T>G p.I387M Missense 2/6 - 1
X-48823477-C-T c.1158G>A p.K386= Synonymous 2/6 - 4
X-48823481-C-T c.1154G>A p.G385D Missense 2/6 - 1
X-48823487-A-G c.1148T>C p.I383T Missense 2/6 - 5
X-48823488-T-A c.1147A>T p.I383F Missense 2/6 - 1
X-48823488-T-G c.1147A>C p.I383L Missense 2/6 - 1
X-48823490-G-A c.1145C>T p.T382I Missense 2/6 - 1
X-48823492-G-T c.1143C>A p.S381R Missense 2/6 - 1
X-48823495-G-A c.1140C>T p.P380= Synonymous 2/6 - 1
X-48823495-G-C c.1140C>G p.P380= Synonymous 2/6 - 1
X-48823495-G-T c.1140C>A p.P380= Synonymous 2/6 - 1
X-48823506-C-T c.1129G>A p.D377N Missense 2/6 - 3
X-48823509-C-G c.1126G>C p.G376R Missense 2/6 - 1
X-48823509-C-T c.1126G>A p.G376R Missense 2/6 - 1
X-48823976-T-C c.1122-463A>G - IntronicSNV - 1/5 1
X-48823976-T-G c.1122-463A>C - IntronicSNV - 1/5 1
X-48825564-G-A c.1115C>T p.T372M Missense 1/6 - 5
X-48825573-G-A c.1106C>T p.T369I Missense 1/6 - 5
X-48825575-G-A c.1104C>T p.V368= Synonymous 1/6 - 1
X-48825577-C-A c.1102G>T p.V368F Missense 1/6 - 1
X-48825591-A-T c.1088T>A p.F363Y Missense 1/6 - 1
X-48825597-G-A c.1082C>T p.A361V Missense 1/6 - 1
X-48825600-G-A c.1079C>T p.P360L Missense 1/6 - 1
X-48825601-G-A c.1078C>T p.P360S Missense 1/6 - 2
X-48825609-G-A c.1070C>T p.T357I Missense 1/6 - 1
X-48825620-C-A c.1059G>T p.K353N Missense 1/6 - 1
X-48825620-C-G c.1059G>C p.K353N Missense 1/6 - 1
X-48825623-G-C c.1056C>G p.N352K Missense 1/6 - 1
X-48825623-G-T c.1056C>A p.N352K Missense 1/6 - 1
X-48825630-C-A c.1049G>T p.G350V Missense 1/6 - 2
X-48825630-C-T c.1049G>A p.G350D Missense 1/6 - 2
X-48825632-C-A c.1047G>T p.K349N Missense 1/6 - 4
X-48825635-C-T c.1044G>A p.E348= Synonymous 1/6 - 1
X-48825636-TC-AT c.1042_1043delinsAT p.E348M Missense 1/6 - 1
X-48825641-A-C c.1038T>G p.Y346* Nonsense 1/6 - 1
X-48825641-A-T c.1038T>A p.Y346* Nonsense 1/6 - 2
X-48825674-C-A c.1005G>T p.M335I Missense 1/6 - 1
X-48825674-C-G c.1005G>C p.M335I Missense 1/6 - 1
X-48825674-C-T c.1005G>A p.M335I Missense 1/6 - 1
X-48825698-G-A c.981C>T p.G327= Synonymous 1/6 - 2
X-48825698-G-C c.981C>G p.G327= Synonymous 1/6 - 2
X-48825698-G-T c.981C>A p.G327= Synonymous 1/6 - 2
X-48825704-C-A c.975G>T p.E325D Missense 1/6 - 1
X-48825704-C-G c.975G>C p.E325D Missense 1/6 - 1
X-48825706-C-G c.973G>C p.E325Q Missense 1/6 - 1
X-48825710-G-A c.969C>T p.A323= Synonymous 1/6 - 2
X-48825710-G-T c.969C>A p.A323= Synonymous 1/6 - 1
X-48825714-C-A c.965G>T p.C322F Missense 1/6 - 1
X-48825714-C-G c.965G>C p.C322S Missense 1/6 - 2
X-48825715-A-T c.964T>A p.C322S Missense 1/6 - 2
X-48825716-G-A c.963C>T p.S321= Synonymous 1/6 - 1
X-48825717-C-T c.962G>A p.S321N Missense 1/6 - 3
X-48825719-C-A c.960G>T p.K320N Missense 1/6 - 1
X-48825719-C-G c.960G>C p.K320N Missense 1/6 - 1
X-48825721-T-A c.958A>T p.K320* Nonsense 1/6 - 1
X-48825722-G-C c.957C>G p.L319= Synonymous 1/6 - 5
X-48825726-G-A c.953C>T p.T318I Missense 1/6 - 1
X-48825728-G-T c.951C>A p.Y317* Nonsense 1/6 - 1
X-48825732-C-T c.947G>A p.G316D Missense 1/6 - 1
X-48825733-C-T c.946G>A p.G316S Missense 1/6 - 1
X-48825734-C-A c.945G>T p.L315= Synonymous 1/6 - 1
X-48825734-C-G c.945G>C p.L315= Synonymous 1/6 - 1
X-48825734-C-T c.945G>A p.L315= Synonymous 1/6 - 1
X-48825736-G-A c.943C>T p.L315= Synonymous 1/6 - 1
X-48825741-CT-GG c.937_938delinsCC p.R313P Missense 1/6 - 1
X-48825744-AA-GG c.934_935delinsCC p.L312P Missense 1/6 - 1
X-48825751-G-C c.928C>G p.Q310E Missense 1/6 - 1
X-48825751-G-T c.928C>A p.Q310K Missense 1/6 - 1
X-48825752-T-G c.927A>C p.S309= Synonymous 1/6 - 1
X-48825753-G-C c.926C>G p.S309* Nonsense 1/6 - 1
X-48825760-T-C c.919A>G p.R307G Missense 1/6 - 1
X-48825761-G-A c.918C>T p.S306= Synonymous 1/6 - 1
X-48825763-GA-G c.916del p.S306Pfs*7 Frameshift 1/6 - 1
X-48825769-T-C c.910A>G p.K304E Missense 1/6 - 1
X-48825777-C-G c.902G>C p.R301P Missense 1/6 - 7
X-48825777-C-T c.902G>A p.R301H Missense 1/6 - 5
X-48825778-G-A c.901C>T p.R301C Missense 1/6 - 6
X-48825780-A-G c.899T>C p.F300S Missense 1/6 - 1
X-48825794-A-T c.885T>A p.R295= Synonymous 1/6 - 1
X-48825795-C-T c.884G>A p.R295H Missense 1/6 - 4
X-48825796-G-A c.883C>T p.R295C Missense 1/6 - 1
X-48825804-A-G c.875T>C p.V292A Missense 1/6 - 1
X-48825809-G-A c.870C>T p.A290= Synonymous 1/6 - 2
X-48825809-G-C c.870C>G p.A290= Synonymous 1/6 - 1
X-48825809-G-T c.870C>A p.A290= Synonymous 1/6 - 1
X-48825826-C-T c.853G>A p.D285N Missense 1/6 - 1
X-48825827-G-A c.852C>T p.N284= Synonymous 1/6 - 2
X-48825830-CTT-GTC c.847_849delinsGAC p.K283D Missense 1/6 - 1
X-48825835-G-T c.844C>A p.P282T Missense 1/6 - 1
X-48825838-C-T c.841G>A p.V281M Missense 1/6 - 1
X-48825857-G-A c.822C>T p.P274= Synonymous 1/6 - 1
X-48825858-G-A c.821C>T p.P274L Missense 1/6 - 1
X-48825859-G-A c.820C>T p.P274S Missense 1/6 - 3
X-48825862-G-T c.817C>A p.L273M Missense 1/6 - 1
X-48825885-CT-GC c.793_794delinsGC p.S265A Missense 1/6 - 1
X-48825896-C-A c.783G>T p.R261= Synonymous 1/6 - 3
X-48825896-CCG-ACA c.781_783delinsTGT p.R261C Missense 1/6 - 1
X-48825897-C-A c.782G>T p.R261L Missense 1/6 - 1
X-48825897-C-T c.782G>A p.R261Q Missense 1/6 - 1
X-48825898-G-A c.781C>T p.R261W Missense 1/6 - 1
X-48825901-G-A c.778C>T p.L260= Synonymous 1/6 - 3
X-48825911-A-C c.768T>G p.R256= Synonymous 1/6 - 1
X-48825911-A-G c.768T>C p.R256= Synonymous 1/6 - 1
X-48825911-A-T c.768T>A p.R256= Synonymous 1/6 - 1
X-48825912-C-T c.767G>A p.R256H Missense 1/6 - 1
X-48825914-G-A c.765C>T p.S255= Synonymous 1/6 - 1
X-48825920-G-T c.759C>A p.A253= Synonymous 1/6 - 2
X-48825921-G-T c.758C>A p.A253D Missense 1/6 - 3
X-48825923-G-A c.756C>T p.A252= Synonymous 1/6 - 1
X-48825925-C-A c.754G>T p.A252S Missense 1/6 - 1
X-48825926-A-C c.753T>G p.F251L Missense 1/6 - 1
X-48825926-A-T c.753T>A p.F251L Missense 1/6 - 1
X-48825928-A-G c.751T>C p.F251L Missense 1/6 - 1
X-48825932-C-A c.747G>T p.R249= Synonymous 1/6 - 1
X-48825932-C-G c.747G>C p.R249= Synonymous 1/6 - 1
X-48825932-C-T c.747G>A p.R249= Synonymous 1/6 - 1
X-48825934-G-T c.745C>A p.R249= Synonymous 1/6 - 1
X-48825937-G-A c.742C>T p.L248= Synonymous 1/6 - 1
X-48825946-C-A c.733G>T p.E245* Nonsense 1/6 - 1
X-48825947-AC-CT c.731_732delinsAG p.G244E Missense 1/6 - 1
X-48825949-C-T c.730G>A p.G244S Missense 1/6 - 1
X-48825951-G-T c.728C>A p.T243K Missense 1/6 - 1
X-48825953-G-C c.726C>G p.F242L Missense 1/6 - 1
X-48825953-G-T c.726C>A p.F242L Missense 1/6 - 1
X-48825955-A-G c.724T>C p.F242L Missense 1/6 - 1
X-48825956-TAT-AAA c.721_723delinsTTT p.I241F Missense 1/6 - 1
X-48825956-TAT-CCA c.721_723delinsTGG p.I241W Missense 1/6 - 1
X-48825957-A-G c.722T>C p.I241T Missense 1/6 - 1
X-48825957-A-T c.722T>A p.I241K Missense 1/6 - 1
X-48825958-T-C c.721A>G p.I241V Missense 1/6 - 1
X-48825958-T-G c.721A>C p.I241L Missense 1/6 - 1
X-48825983-G-C c.696C>G p.F232L Missense 1/6 - 2
X-48825983-G-T c.696C>A p.F232L Missense 1/6 - 2
X-48825985-A-G c.694T>C p.F232L Missense 1/6 - 2
X-48825988-A-T c.691T>A p.F231I Missense 1/6 - 3
X-48825994-G-A c.685C>T p.Q229* Nonsense 1/6 - 1
X-48825998-G-T c.681C>A p.F227L Missense 1/6 - 4
X-48825998-G-C c.681C>G p.F227L Missense 1/6 - 2
X-48826000-A-G c.679T>C p.F227L Missense 1/6 - 2
X-48826003-G-A c.676C>T p.R226C Missense 1/6 - 2
X-48826003-G-T c.676C>A p.R226S Missense 1/6 - 1
X-48826006-C-T c.673G>A p.E225K Missense 1/6 - 2
X-48826007-G-A c.672C>T p.G224= Synonymous 1/6 - 1
X-48826011-C-T c.668G>A p.C223Y Missense 1/6 - 2
X-48826017-T-A c.662A>T p.Q221L Missense 1/6 - 1
X-48826019-C-T c.660G>A p.E220= Synonymous 1/6 - 1
X-48826023-C-A c.656G>T p.R219M Missense 1/6 - 1
X-48826026-G-T c.653C>A p.S218* Nonsense 1/6 - 1
X-48826028-G-A c.651C>T p.S217= Synonymous 1/6 - 2
X-48826035-C-T c.644G>A p.R215H Missense 1/6 - 3
X-48826036-G-A c.643C>T p.R215C Missense 1/6 - 1
X-48826045-C-T c.634G>A p.G212S Missense 1/6 - 1
X-48826046-G-A c.633C>T p.R211= Synonymous 1/6 - 1
X-48826048-G-A c.631C>T p.R211C Missense 1/6 - 1
X-48826048-G-T c.631C>A p.R211S Missense 1/6 - 1
X-48826053-G-A c.626C>T p.P209L Missense 1/6 - 3
X-48826059-G-A c.620C>T p.T207I Missense 1/6 - 1
X-48826066-C-T c.613G>A p.V205M Missense 1/6 - 1
X-48826069-C-A c.610G>T p.V204L Missense 1/6 - 1
X-48826069-C-T c.610G>A p.V204M Missense 1/6 - 4
X-48826075-C-T c.604G>A p.A202T Missense 1/6 - 1
X-48826076-G-A c.603C>T p.I201= Synonymous 1/6 - 1
X-48826076-G-T c.603C>A p.I201= Synonymous 1/6 - 1
X-48826078-T-G c.601A>C p.I201L Missense 1/6 - 2
X-48826085-C-A c.594G>T p.V198= Synonymous 1/6 - 1
X-48826085-C-G c.594G>C p.V198= Synonymous 1/6 - 1
X-48826085-C-T c.594G>A p.V198= Synonymous 1/6 - 1
X-48826086-A-G c.593T>C p.V198A Missense 1/6 - 1
X-48826087-C-A c.592G>T p.V198L Missense 1/6 - 1
X-48826087-C-G c.592G>C p.V198L Missense 1/6 - 1
X-48826087-C-T c.592G>A p.V198M Missense 1/6 - 1
X-48826088-G-A c.591C>T p.A197= Synonymous 1/6 - 1
X-48826090-C-T c.589G>A p.A197T Missense 1/6 - 3
X-48826091-CG-C c.588del p.I196Mfs*69 Frameshift 1/6 - 1
X-48826091-G-A c.588C>T p.I196= Synonymous 1/6 - 1
X-48826091-G-T c.588C>A p.I196= Synonymous 1/6 - 1
X-48826094-G-A c.585C>T p.F195= Synonymous 1/6 - 2
X-48826103-G-A c.576C>T p.T192= Synonymous 1/6 - 1
X-48826104-G-A c.575C>T p.T192I Missense 1/6 - 1
X-48826113-T-G c.566A>C p.Y189S Missense 1/6 - 1
X-48826120-C-T c.559G>A p.V187I Missense 1/6 - 3
X-48826121-G-A c.558C>T p.L186= Synonymous 1/6 - 1
X-48826121-G-C c.558C>G p.L186= Synonymous 1/6 - 1
X-48826123-G-A c.556C>T p.L186F Missense 1/6 - 1
X-48826125-G-A c.554C>T p.A185V Missense 1/6 - 1
X-48826129-C-A c.550G>T p.A184S Missense 1/6 - 2
X-48826129-C-T c.550G>A p.A184T Missense 1/6 - 6
X-48826136-C-A c.543G>T p.T181= Synonymous 1/6 - 1
X-48826136-C-G c.543G>C p.T181= Synonymous 1/6 - 1
X-48826136-C-T c.543G>A p.T181= Synonymous 1/6 - 2
X-48826140-T-C c.539A>G p.H180R Missense 1/6 - 1
X-48826143-G-A c.536C>T p.P179L Missense 1/6 - 2
X-48826150-C-T c.529G>A p.E177K Missense 1/6 - 2
X-48826151-G-A c.528C>T p.F176= Synonymous 1/6 - 1
X-48826158-C-T c.521G>A p.R174Q Missense 1/6 - 2
X-48826159-G-A c.520C>T p.R174W Missense 1/6 - 1
X-48826160-C-T c.519G>A p.W173* Nonsense 1/6 - 2
X-48826161-C-T c.518G>A p.W173* Nonsense 1/6 - 2
X-48826162-A-G c.517T>C p.W173R Missense 1/6 - 1
X-48826162-A-T c.517T>A p.W173R Missense 1/6 - 1
X-48826163-G-A c.516C>T p.L172= Synonymous 1/6 - 1
X-48826167-C-T c.512G>A p.R171Q Missense 1/6 - 1
X-48826168-G-A c.511C>T p.R171W Missense 1/6 - 4
X-48826170-T-C c.509A>G p.Q170R Missense 1/6 - 1
X-48826172-CCG-ACA c.505_507delinsTGT p.R169C Missense 1/6 - 1
X-48826173-C-T c.506G>A p.R169Q Missense 1/6 - 1
X-48826174-G-A c.505C>T p.R169W Missense 1/6 - 3
X-48826179-G-A c.500C>T p.S167F Missense 1/6 - 2
X-48826187-T-C c.492A>G p.A164= Synonymous 1/6 - 1
X-48826189-C-G c.490G>C p.A164P Missense 1/6 - 1
X-48826192-G-A c.487C>T p.P163S Missense 1/6 - 1
X-48826198-C-T c.481G>A p.A161T Missense 1/6 - 1
X-48826201-G-A c.478C>T p.P160S Missense 1/6 - 1
X-48826204-C-G c.475G>C p.G159R Missense 1/6 - 2
X-48826208-C-A c.471G>T p.G157= Synonymous 1/6 - 1
X-48826208-C-G c.471G>C p.G157= Synonymous 1/6 - 1
X-48826208-C-T c.471G>A p.G157= Synonymous 1/6 - 1
X-48826209-C-A c.470G>T p.G157V Missense 1/6 - 1
X-48826210-C-G c.469G>C p.G157R Missense 1/6 - 2
X-48826210-C-T c.469G>A p.G157R Missense 1/6 - 4
X-48826213-C-G c.466G>C p.A156P Missense 1/6 - 1
X-48826219-C-T c.460G>A p.E154K Missense 1/6 - 4
X-48826235-T-A c.444A>T p.A148= Synonymous 1/6 - 1
X-48826235-T-C c.444A>G p.A148= Synonymous 1/6 - 1
X-48826235-T-G c.444A>C p.A148= Synonymous 1/6 - 1
X-48826237-C-T c.442G>A p.A148T Missense 1/6 - 2
X-48826243-G-A c.436C>T p.R146C Missense 1/6 - 1
X-48826246-C-T c.433G>A p.E145K Missense 1/6 - 3
X-48826247-G-A c.432C>T p.A144= Synonymous 1/6 - 1
X-48826247-G-C c.432C>G p.A144= Synonymous 1/6 - 1
X-48826247-G-T c.432C>A p.A144= Synonymous 1/6 - 1
X-48826248-G-A c.431C>T p.A144V Missense 1/6 - 3
X-48826249-C-T c.430G>A p.A144T Missense 1/6 - 1
X-48826255-C-A c.424G>T p.E142* Nonsense 1/6 - 1
X-48826263-C-G c.416G>C p.R139P Missense 1/6 - 1
X-48826262-T-A c.417A>T p.R139= Synonymous 1/6 - 1
X-48826262-T-C c.417A>G p.R139= Synonymous 1/6 - 1
X-48826262-T-G c.417A>C p.R139= Synonymous 1/6 - 1
X-48826264-G-A c.415C>T p.R139* Nonsense 1/6 - 1
X-48826264-G-T c.415C>A p.R139= Synonymous 1/6 - 1
X-48826266-T-G c.413A>C p.D138A Missense 1/6 - 1
X-48826268-CCG-ACA c.409_411delinsTGT p.R137C Missense 1/6 - 1
X-48826270-G-A c.409C>T p.R137W Missense 1/6 - 2
X-48826279-C-T c.400G>A p.E134K Missense 1/6 - 1
X-48826284-CA-GC c.394_395delinsGC p.C132A Missense 1/6 - 1
X-48826286-G-A c.393C>T p.C131= Synonymous 1/6 - 1
X-48826287-CA-GC c.391_392delinsGC p.C131A Missense 1/6 - 1
X-48826290-T-C c.389A>G p.D130G Missense 1/6 - 2
X-48826293-C-A c.386G>T p.G129V Missense 1/6 - 1
X-48826294-C-T c.385G>A p.G129S Missense 1/6 - 1
X-48826301-C-A c.378G>T p.E126D Missense 1/6 - 1
X-48826302-T-TA c.376_377insT p.E126Vfs*5 Frameshift 1/6 - 1
X-48826303-C-CA c.375_376insT p.E126* Nonsense 1/6 - 1
X-48826303-C-G c.376G>C p.E126Q Missense 1/6 - 2
X-48826303-C-T c.376G>A p.E126K Missense 1/6 - 3
X-48826305-G-A c.374C>T p.P125L Missense 1/6 - 4
X-48826306-G-A c.373C>T p.P125S Missense 1/6 - 1
X-48826308-A-G c.371T>C p.V124A Missense 1/6 - 1
X-48826314-C-T c.365G>A p.G122D Missense 1/6 - 1
X-48826316-G-A c.363C>T p.Y121= Synonymous 1/6 - 1
X-48826317-T-C c.362A>G p.Y121C Missense 1/6 - 1
X-48826322-A-C c.357T>G p.A119= Synonymous 1/6 - 3
X-48826322-A-G c.357T>C p.A119= Synonymous 1/6 - 2
X-48826322-A-T c.357T>A p.A119= Synonymous 1/6 - 2
X-48826333-C-T c.346G>A p.E116K Missense 1/6 - 2
X-48826339-A-G c.340T>C p.F114L Missense 1/6 - 1
X-48826340-G-A c.339C>T p.A113= Synonymous 1/6 - 1
X-48826340-G-C c.339C>G p.A113= Synonymous 1/6 - 1
X-48826340-G-T c.339C>A p.A113= Synonymous 1/6 - 1
X-48826350-CA-GC c.328_329delinsGC p.C110A Missense 1/6 - 2
X-48826354-C-A c.325G>T p.E109* Nonsense 1/6 - 1
X-48826354-C-T c.325G>A p.E109K Missense 1/6 - 1
X-48826355-C-T c.324G>A p.Q108= Synonymous 1/6 - 1
X-48826359-C-T c.320G>A p.R107Q Missense 1/6 - 1
X-48826360-G-A c.319C>T p.R107W Missense 1/6 - 1
X-48826367-A-C c.312T>G p.H104Q Missense 1/6 - 1
X-48826367-A-T c.312T>A p.H104Q Missense 1/6 - 1
X-48826368-T-A c.311A>T p.H104L Missense 1/6 - 1
X-48826368-TG-CA c.310_311inv p.H104C Missense 1/6 - 1
X-48826368-TG-GC c.310_311delinsGC p.H104A Missense 1/6 - 1
X-48826369-G-A c.310C>T p.H104Y Missense 1/6 - 1
X-48826373-CCG-GCT c.304_306delinsAGC p.R102S Missense 1/6 - 1
X-48826374-C-T c.305G>A p.R102Q Missense 1/6 - 5
X-48826375-G-A c.304C>T p.R102W Missense 1/6 - 1
X-48826378-C-A c.301G>T p.G101W Missense 1/6 - 2
X-48826380-G-A c.299C>T p.T100M Missense 1/6 - 1
X-48826381-T-A c.298A>T p.T100S Missense 1/6 - 1
X-48826383-C-T c.296G>A p.R99Q Missense 1/6 - 1
X-48826384-G-A c.295C>T p.R99* Nonsense 1/6 - 2
X-48826386-T-C c.293A>G p.Y98C Missense 1/6 - 1
X-48826392-T-C c.287A>G p.N96S Missense 1/6 - 1
X-48826399-C-T c.280G>A p.V94M Missense 1/6 - 1
X-48826401-T-A c.278A>T p.H93L Missense 1/6 - 1
X-48826404-C-T c.275G>A p.R92H Missense 1/6 - 3
X-48826405-G-A c.274C>T p.R92C Missense 1/6 - 2
X-48826413-T-C c.266A>G p.D89G Missense 1/6 - 1
X-48826415-AG-TT c.263_264delinsAA p.P88Q Missense 1/6 - 1
X-48826418-G-A c.261C>T p.D87= Synonymous 1/6 - 2
X-48826421-G-A c.258C>T p.R86= Synonymous 1/6 - 2
X-48826423-G-A c.256C>T p.R86C Missense 1/6 - 2
X-48826426-C-T c.253G>A p.D85N Missense 1/6 - 1
X-48826427-G-A c.252C>T p.F84= Synonymous 1/6 - 1
X-48826430-G-A c.249C>T p.F83= Synonymous 1/6 - 2
X-48826431-A-C c.248T>G p.F83C Missense 1/6 - 7
X-48826430-G-C c.249C>G p.F83L Missense 1/6 - 1
X-48826430-G-T c.249C>A p.F83L Missense 1/6 - 1
X-48826432-A-G c.247T>C p.F83L Missense 1/6 - 1
X-48826432-A-T c.247T>A p.F83I Missense 1/6 - 2
X-48826433-G-A c.246C>T p.Y82= Synonymous 1/6 - 1
X-48826434-TA-GC c.244_245delinsGC p.Y82A Missense 1/6 - 1
X-48826438-C-A c.241G>T p.E81* Nonsense 1/6 - 1
X-48826440-C-T c.239G>A p.G80D Missense 1/6 - 4
X-48826443-G-C c.236C>G p.S79* Nonsense 1/6 - 1
X-48826443-G-T c.236C>A p.S79* Nonsense 1/6 - 1
X-48826450-C-T c.229G>A p.A77T Missense 1/6 - 2
X-48826452-T-C c.227A>G p.D76G Missense 1/6 - 1
X-48826453-C-T c.226G>A p.D76N Missense 1/6 - 1
X-48826459-A-T c.220T>A p.F74I Missense 1/6 - 1
X-48826460-G-A c.219C>T p.F73= Synonymous 1/6 - 2
X-48826465-C-G c.214G>C p.E72Q Missense 1/6 - 1
X-48826466-C-G c.213G>C p.K71N Missense 1/6 - 1
X-48826469-C-T c.210G>A p.E70= Synonymous 1/6 - 1
X-48826473-G-A c.206C>T p.S69L Missense 1/6 - 1
X-48826479-C-A c.200G>T p.G67V Missense 1/6 - 1
X-48826487-G-A c.192C>T p.T64= Synonymous 1/6 - 3
X-48826487-G-T c.192C>A p.T64= Synonymous 1/6 - 1
X-48826500-C-T c.179G>A p.R60H Missense 1/6 - 1
X-48826502-G-C c.177C>G p.D59E Missense 1/6 - 1
X-48826502-G-T c.177C>A p.D59E Missense 1/6 - 1
X-48826503-T-A c.176A>T p.D59V Missense 1/6 - 2
X-48826504-C-T c.175G>A p.D59N Missense 1/6 - 1
X-48826507-G-A c.172C>T p.L58= Synonymous 1/6 - 1
X-48826509-CG-C c.170del p.T57Sfs*39 Frameshift 1/6 - 1
X-48826509-G-A c.170C>T p.T57M Missense 1/6 - 1
X-48826512-T-A c.167A>T p.N56I Missense 1/6 - 1
X-48826525-C-A c.154G>T p.E52* Nonsense 1/6 - 1
X-48826530-C-T c.149G>A p.R50H Missense 1/6 - 2
X-48826531-G-A c.148C>T p.R50C Missense 1/6 - 1
X-48826532-CCG-GCT c.145_147delinsAGC p.R49S Missense 1/6 - 1
X-48826533-C-T c.146G>A p.R49Q Missense 1/6 - 1
X-48826534-G-A c.145C>T p.R49W Missense 1/6 - 1
X-48826537-C-G c.142G>C p.G48R Missense 1/6 - 2
X-48826537-C-T c.142G>A p.G48R Missense 1/6 - 3
X-48826543-C-T c.136G>A p.V46M Missense 1/6 - 1
X-48826556-A-C c.123T>G p.V41= Synonymous 1/6 - 3
X-48826562-A-C c.117T>G p.D39E Missense 1/6 - 1
X-48826586-C-A c.93G>T p.P31= Synonymous 1/6 - 1
X-48826586-C-G c.93G>C p.P31= Synonymous 1/6 - 3
X-48826586-C-T c.93G>A p.P31= Synonymous 1/6 - 3
X-48826587-G-A c.92C>T p.P31L Missense 1/6 - 1
X-48826589-T-A c.90A>T p.A30= Synonymous 1/6 - 1
X-48826589-T-C c.90A>G p.A30= Synonymous 1/6 - 1
X-48826589-T-G c.90A>C p.A30= Synonymous 1/6 - 1
X-48826590-G-GC c.88dup p.A30Gfs*11 Frameshift 1/6 - 1
X-48826592-C-T c.87G>A p.P29= Synonymous 1/6 - 1
X-48826593-G-A c.86C>T p.P29L Missense 1/6 - 3
X-48826596-G-A c.83C>T p.P28L Missense 1/6 - 1
X-48826600-G-A c.79C>T p.L27= Synonymous 1/6 - 1
X-48826604-T-A c.75A>T p.Q25H Missense 1/6 - 1
X-48826606-G-T c.73C>A p.Q25K Missense 1/6 - 1
X-48826611-G-A c.68C>T p.A23V Missense 1/6 - 1
X-48826611-GC-CA c.67_68delinsTG p.A23C Missense 1/6 - 1
X-48826619-C-T c.60G>A p.L20= Synonymous 1/6 - 1
X-48826620-AG-CA c.58_59delinsTG p.L20W Missense 1/6 - 1
X-48826622-C-T c.57G>A p.W19* Nonsense 1/6 - 1
X-48826623-C-T c.56G>A p.W19* Nonsense 1/6 - 1
X-48826627-C-A c.52G>T p.G18C Missense 1/6 - 1
X-48826630-C-T c.49G>A p.V17M Missense 1/6 - 1
X-48826631-TGC-ATA c.46_48delinsTAT p.A16Y Missense 1/6 - 1
X-48826631-TG-GT c.47_48delinsAC p.A16D Missense 1/6 - 1
X-48826633-C-A c.46G>T p.A16S Missense 1/6 - 1
X-48826636-C-A c.43G>T p.A15S Missense 1/6 - 1
X-48826640-C-A c.39G>T p.R13= Synonymous 1/6 - 1
X-48826640-C-G c.39G>C p.R13= Synonymous 1/6 - 1
X-48826640-C-T c.39G>A p.R13= Synonymous 1/6 - 1
X-48826642-G-A c.37C>T p.R13W Missense 1/6 - 3
X-48826642-G-C c.37C>G p.R13G Missense 1/6 - 1
X-48826642-G-T c.37C>A p.R13= Synonymous 1/6 - 1
X-48826643-AGC-TTG c.34_36delinsCAA p.A12Q Missense 1/6 - 1
X-48826646-A-G c.33T>C p.F11= Synonymous 1/6 - 2
X-48826647-AA-CG c.31_32delinsCG p.F11R Missense 1/6 - 1
X-48826647-AA-TC c.31_32delinsGA p.F11D Missense 1/6 - 1
X-48826648-A-C c.31T>G p.F11V Missense 1/6 - 1
X-48826674-G-C c.5C>G p.A2G Missense 1/6 - 1
X-48826751-T-C c.-73A>G - 5-UTRSNV 1/6 - 1
X-48826976-G-C c.-298C>G - 5-UTRSNV 1/6 - 4