ALKBH8

ALKBH8 alkB homolog 8, tRNA methyltransferase

Annotation transcript: NM_138775.3

474 unique variant annotations were identified in 250 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
11-107374531-C-T c.*853G>A - 3-UTRSNV 12/12 - 1
11-107375159-C-A c.*225G>T - 3-UTRSNV 12/12 - 1
11-107375254-A-C c.*130T>G - 3-UTRSNV 12/12 - 1
11-107375254-A-G c.*130T>C - 3-UTRSNV 12/12 - 1
11-107375389-C-T c.1990G>A p.A664T Missense 12/12 - 1
11-107375390-C-A c.1989G>T p.K663N Missense 12/12 - 1
11-107375390-C-G c.1989G>C p.K663N Missense 12/12 - 1
11-107375391-T-C c.1988A>G p.K663R Missense 12/12 - 1
11-107375401-T-C c.1978A>G p.I660V Missense 12/12 - 2
11-107375408-C-A c.1971G>T p.W657C Missense 12/12 - 1
11-107375408-C-G c.1971G>C p.W657C Missense 12/12 - 3
11-107375408-C-T c.1971G>A p.W657* Nonsense 12/12 - 1
11-107375409-C-T c.1970G>A p.W657* Nonsense 12/12 - 1
11-107375422-C-A c.1957G>T p.D653Y Missense 12/12 - 9
11-107375422-C-T c.1957G>A p.D653N Missense 12/12 - 1
11-107375425-A-C c.1954T>G p.Y652D Missense 12/12 - 1
11-107375436-A-T c.1943T>A p.L648Q Missense 12/12 - 1
11-107375446-C-G c.1933G>C p.V645L Missense 12/12 - 1
11-107375451-CT-AG c.1927_1928inv p.S643L Missense 12/12 - 1
11-107375452-T-C c.1927A>G p.S643G Missense 12/12 - 1
11-107375457-G-A c.1922C>T p.T641I Missense 12/12 - 3
11-107375459-C-A c.1920G>T p.R640S Missense 12/12 - 2
11-107375479-C-A c.1900G>T p.E634* Nonsense 12/12 - 4
11-107375482-C-T c.1897G>A p.G633R Missense 12/12 - 1
11-107375487-C-T c.1892G>A p.R631H Missense 12/12 - 1
11-107375488-G-A c.1891C>T p.R631C Missense 12/12 - 2
11-107375492-C-A c.1887G>T p.V629= Synonymous 12/12 - 1
11-107375492-C-G c.1887G>C p.V629= Synonymous 12/12 - 1
11-107375492-C-T c.1887G>A p.V629= Synonymous 12/12 - 1
11-107375505-C-T c.1874G>A p.R625H Missense 12/12 - 3
11-107375506-G-A c.1873C>T p.R625C Missense 12/12 - 2
11-107375517-GG-AA c.1861_1862delinsTT p.P621F Missense 12/12 - 1
11-107375530-G-A c.1849C>T p.Q617* Nonsense 12/12 - 1
11-107375536-C-A c.1843G>T p.G615* Nonsense 12/12 - 1
11-107375537-T-A c.1842A>T p.I614= Synonymous 12/12 - 1
11-107375538-A-G c.1841T>C p.I614T Missense 12/12 - 2
11-107375544-C-A c.1835G>T p.G612V Missense 12/12 - 1
11-107375545-C-A c.1834G>T p.G612C Missense 12/12 - 2
11-107375550-G-C c.1829C>G p.P610R Missense 12/12 - 1
11-107375555-A-C c.1824T>G p.V608= Synonymous 12/12 - 1
11-107375557-C-G c.1822G>C p.V608L Missense 12/12 - 1
11-107375559-G-C c.1820C>G p.P607R Missense 12/12 - 3
11-107375564-G-T c.1815C>A p.G605= Synonymous 12/12 - 3
11-107375565-C-T c.1814G>A p.G605D Missense 12/12 - 2
11-107375567-T-C c.1812A>G p.K604= Synonymous 12/12 - 1
11-107375573-CA-C c.1806del p.D603Ifs*12 Frameshift 12/12 - 1
11-107375574-G-T c.1805C>A p.P602H Missense 12/12 - 1
11-107375587-G-A c.1792C>T p.L598F Missense 12/12 - 2
11-107375590-G-A c.1789C>T p.H597Y Missense 12/12 - 1
11-107375593-A-C c.1786T>G p.W596G Missense 12/12 - 1
11-107375593-AG-A c.1785del p.W596Gfs*19 Frameshift 12/12 - 1
11-107375596-G-A c.1783C>T p.P595S Missense 12/12 - 2
11-107375600-C-A c.1779G>T p.L593= Synonymous 12/12 - 1
11-107375600-C-G c.1779G>C p.L593= Synonymous 12/12 - 1
11-107375600-C-T c.1779G>A p.L593= Synonymous 12/12 - 2
11-107375602-G-A c.1777C>T p.L593= Synonymous 12/12 - 1
11-107375606-A-C c.1773T>G p.D591E Missense 12/12 - 1
11-107375606-A-T c.1773T>A p.D591E Missense 12/12 - 1
11-107375608-C-T c.1771G>A p.D591N Missense 12/12 - 2
11-107375611-G-T c.1768C>A p.Q590K Missense 12/12 - 1
11-107375617-A-G c.1762T>C p.Y588H Missense 12/12 - 2
11-107375622-G-A c.1757C>T p.S586F Missense 12/12 - 1
11-107375622-G-C c.1757C>G p.S586C Missense 12/12 - 2
11-107375627-C-T c.1752G>A p.R584= Synonymous 12/12 - 1
11-107375629-T-G c.1750A>C p.R584= Synonymous 12/12 - 1
11-107375630-G-A c.1749C>T p.N583= Synonymous 12/12 - 1
11-107375635-C-T c.1744G>A p.V582I Missense 12/12 - 1
11-107375637-T-C c.1742A>G p.H581R Missense 12/12 - 1
11-107375658-G-T c.1721C>A p.S574Y Missense 12/12 - 1
11-107375665-G-A c.1714C>T p.Q572* Nonsense 12/12 - 4
11-107375667-C-T c.1712G>A p.R571K Missense 12/12 - 4
11-107375679-C-T c.1700G>A p.G567E Missense 12/12 - 6
11-107375682-C-A c.1697G>T p.G566V Missense 12/12 - 1
11-107375685-T-C c.1694A>G p.E565G Missense 12/12 - 1
11-107375686-C-T c.1693G>A p.E565K Missense 12/12 - 1
11-107375688-T-A c.1691A>T p.Q564L Missense 12/12 - 3
11-107375689-G-T c.1690C>A p.Q564K Missense 12/12 - 1
11-107375691-G-C c.1688C>G p.S563C Missense 12/12 - 1
11-107375694-T-C c.1685A>G p.D562G Missense 12/12 - 1
11-107375700-A-T c.1679T>A p.I560N Missense 12/12 - 1
11-107375703-C-T c.1676G>A p.R559H Missense 12/12 - 2
11-107375704-G-A c.1675C>T p.R559C Missense 12/12 - 1
11-107375704-G-C c.1675C>G p.R559G Missense 12/12 - 2
11-107375706-G-A c.1673C>T p.P558L Missense 12/12 - 1
11-107375706-G-C c.1673C>G p.P558R Missense 12/12 - 3
11-107375707-G-A c.1672C>T p.P558S Missense 12/12 - 2
11-107375708-G-A c.1671C>T p.V557= Synonymous 12/12 - 1
11-107375719-C-G c.1660G>C p.A554P Missense 12/12 - 1
11-107375721-G-A c.1658C>T p.S553L Missense 12/12 - 1
11-107375723-G-C c.1656C>G p.D552E Missense 12/12 - 2
11-107375725-C-T c.1654G>A p.D552N Missense 12/12 - 1
11-107375728-G-A c.1651C>T p.R551* Nonsense 12/12 - 1
11-107375731-T-A c.1648A>T p.S550C Missense 12/12 - 1
11-107375732-G-A c.1647C>T p.G549= Synonymous 12/12 - 1
11-107375732-G-C c.1647C>G p.G549= Synonymous 12/12 - 1
11-107375732-G-T c.1647C>A p.G549= Synonymous 12/12 - 1
11-107375733-C-T c.1646G>A p.G549D Missense 12/12 - 2
11-107375734-C-T c.1645G>A p.G549S Missense 12/12 - 1
11-107375735-C-A c.1644G>T p.M548I Missense 12/12 - 1
11-107375739-T-C c.1640A>G p.D547G Missense 12/12 - 1
11-107375742-C-T c.1637G>A p.R546H Missense 12/12 - 2
11-107375745-A-G c.1634T>C p.M545T Missense 12/12 - 1
11-107375746-T-C c.1633A>G p.M545V Missense 12/12 - 1
11-107375763-CT-AG c.1615_1616inv p.R539L Missense 12/12 - 1
11-107375772-G-A c.1607C>T p.S536L Missense 12/12 - 1
11-107375776-T-C c.1603A>G p.T535A Missense 12/12 - 1
11-107375782-CT-C c.1597del p.S533Vfs*82 Frameshift 12/12 - 1
11-107375798-C-T c.1581G>A p.K527= Synonymous 12/12 - 1
11-107375820-C-T c.1559G>A p.G520E Missense 12/12 - 1
11-107375821-C-G c.1558G>C p.G520R Missense 12/12 - 1
11-107375821-C-T c.1558G>A p.G520R Missense 12/12 - 1
11-107375832-T-C c.1547A>G p.K516R Missense 12/12 - 2
11-107375835-G-A c.1544C>T p.S515F Missense 12/12 - 1
11-107375840-C-T c.1539G>A p.Q513= Synonymous 12/12 - 1
11-107375858-T-A c.1521A>T p.E507D Missense 12/12 - 1
11-107375858-T-G c.1521A>C p.E507D Missense 12/12 - 1
11-107375866-C-T c.1513G>A p.A505T Missense 12/12 - 1
11-107375868-C-G c.1511G>C p.W504S Missense 12/12 - 2
11-107375872-C-T c.1507G>A p.V503I Missense 12/12 - 1
11-107375877-A-G c.1502T>C p.I501T Missense 12/12 - 1
11-107375883-G-A c.1496C>T p.A499V Missense 12/12 - 1
11-107375891-A-C c.1488T>G p.G496= Synonymous 12/12 - 2
11-107375891-A-G c.1488T>C p.G496= Synonymous 12/12 - 1
11-107375891-A-T c.1488T>A p.G496= Synonymous 12/12 - 1
11-107375903-G-A c.1476C>T p.L492= Synonymous 12/12 - 1
11-107375908-G-A c.1471C>T p.R491* Nonsense 12/12 - 1
11-107375931-A-G c.1448T>C p.V483A Missense 12/12 - 1
11-107375934-C-G c.1445G>C p.R482T Missense 12/12 - 1
11-107375936-ACG-TCA c.1441_1443delinsTGA p.R481* Nonsense 12/12 - 1
11-107375936-AC-TT c.1442_1443delinsAA p.R481Q Missense 12/12 - 1
11-107375937-C-A c.1442G>T p.R481L Missense 12/12 - 2
11-107375937-C-T c.1442G>A p.R481H Missense 12/12 - 3
11-107375942-CCTAATGAAAAAAAACAAAACACATGATCAACCTGGAAGAGACAGGAAATCAGAAAATAA-C c.1438-59_1438-1del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 11/11 1
11-107377010-C-G c.1438-1069G>C - IntronicSNV - 11/11 1
11-107381533-G-A c.1437+80C>T - IntronicSNV - 11/11 5
11-107381533-G-C c.1437+80C>G - IntronicSNV - 11/11 4
11-107381618-T-C c.1432A>G p.T478A Missense 11/12 - 5
11-107381630-G-A c.1420C>T p.H474Y Missense 11/12 - 2
11-107381630-G-T c.1420C>A p.H474N Missense 11/12 - 9
11-107381641-A-G c.1409T>C p.I470T Missense 11/12 - 1
11-107381648-T-C c.1402A>G p.I468V Missense 11/12 - 1
11-107381650-C-A c.1400G>T p.C467F Missense 11/12 - 1
11-107381650-C-G c.1400G>C p.C467S Missense 11/12 - 1
11-107381655-A-C c.1395T>G p.D465E Missense 11/12 - 1
11-107381655-A-T c.1395T>A p.D465E Missense 11/12 - 1
11-107381664-C-T c.1386G>A p.G462= Synonymous 11/12 - 1
11-107381668-C-T c.1382G>A p.S461N Missense 11/12 - 1
11-107381670-GC-TT c.1379_1380delinsAA p.R460Q Missense 11/12 - 1
11-107381677-G-T c.1373C>A p.P458Q Missense 11/12 - 1
11-107381678-G-A c.1372C>T p.P458S Missense 11/12 - 2
11-107381681-C-A c.1369G>T p.V457L Missense 11/12 - 1
11-107381682-TG-GT c.1367_1368delinsAC p.A456D Missense 11/12 - 1
11-107381704-G-A c.1346C>T p.A449V Missense 11/12 - 1
11-107381709-A-G c.1341T>C p.F447= Synonymous 11/12 - 1
11-107381717-T-A c.1333A>T p.R445W Missense 11/12 - 2
11-107381720-C-G c.1330G>C p.E444Q Missense 11/12 - 1
11-107381722-C-A c.1328G>T p.R443I Missense 11/12 - 1
11-107381730-G-C c.1320C>G p.D440E Missense 11/12 - 2
11-107381730-G-T c.1320C>A p.D440E Missense 11/12 - 2
11-107381731-T-G c.1319A>C p.D440A Missense 11/12 - 1
11-107381744-G-A c.1306C>T p.Q436* Nonsense 11/12 - 1
11-107381749-C-T c.1301G>A p.R434H Missense 11/12 - 1
11-107381750-G-A c.1300C>T p.R434C Missense 11/12 - 2
11-107381753-C-A c.1297G>T p.D433Y Missense 11/12 - 1
11-107381754-A-T c.1296T>A p.C432* Nonsense 11/12 - 1
11-107381758-C-G c.1292G>C p.G431A Missense 11/12 - 1
11-107381765-G-A c.1288-3C>T - IntronicSNV - 10/11 10
11-107382294-A-C c.1288-532T>G - IntronicSNV - 10/11 1
11-107392815-A-G c.1287+210T>C - IntronicSNV - 10/11 1
11-107393026-A-C c.1286T>G p.M429R Missense 10/12 - 1
11-107393026-A-G c.1286T>C p.M429T Missense 10/12 - 1
11-107393041-T-C c.1271A>G p.N424S Missense 10/12 - 1
11-107393043-G-A c.1269C>T p.I423= Synonymous 10/12 - 3
11-107393043-G-T c.1269C>A p.I423= Synonymous 10/12 - 2
11-107393050-A-G c.1262T>C p.L421P Missense 10/12 - 1
11-107393051-G-C c.1261C>G p.L421V Missense 10/12 - 2
11-107393059-C-G c.1253G>C p.G418A Missense 10/12 - 1
11-107393059-C-T c.1253G>A p.G418E Missense 10/12 - 1
11-107393064-AC-CT c.1247_1248delinsAG p.G416E Missense 10/12 - 1
11-107393065-C-G c.1247G>C p.G416A Missense 10/12 - 1
11-107393068-CA-GT c.1243_1244delinsAC p.C415T Missense 10/12 - 1
11-107393071-C-G c.1241G>C p.G414A Missense 10/12 - 1
11-107393074-A-G c.1238T>C p.I413T Missense 10/12 - 2
11-107393087-T-C c.1225A>G p.I409V Missense 10/12 - 1
11-107393128-G-A c.1184C>T p.P395L Missense 10/12 - 3
11-107393129-G-A c.1183C>T p.P395S Missense 10/12 - 1
11-107393136-G-A c.1176C>T p.T392= Synonymous 10/12 - 1
11-107393136-G-C c.1176C>G p.T392= Synonymous 10/12 - 1
11-107393136-G-T c.1176C>A p.T392= Synonymous 10/12 - 1
11-107393152-C-T c.1160G>A p.S387N Missense 10/12 - 1
11-107393154-G-A c.1158C>T p.F386= Synonymous 10/12 - 1
11-107393161-C-T c.1151G>A p.G384E Missense 10/12 - 1
11-107393165-C-T c.1147G>A p.A383T Missense 10/12 - 1
11-107393166-A-T c.1146T>A p.I382= Synonymous 10/12 - 1
11-107393179-A-G c.1133T>C p.V378A Missense 10/12 - 1
11-107393180-C-T c.1132G>A p.V378I Missense 10/12 - 1
11-107393185-T-TG c.1126dup p.H376Pfs*5 Frameshift 10/12 - 1
11-107393187-G-T c.1125C>A p.V375= Synonymous 10/12 - 1
11-107393189-C-T c.1123G>A p.V375I Missense 10/12 - 1
11-107393191-T-C c.1121A>G p.Y374C Missense 10/12 - 1
11-107393192-A-C c.1120T>G p.Y374D Missense 10/12 - 1
11-107393193-C-A c.1119G>T p.E373D Missense 10/12 - 1
11-107393193-C-G c.1119G>C p.E373D Missense 10/12 - 1
11-107393198-G-T c.1114C>A p.Q372K Missense 10/12 - 1
11-107393223-A-G c.1089T>C p.S363= Synonymous 10/12 - 1
11-107393228-C-T c.1084G>A p.E362K Missense 10/12 - 1
11-107393237-A-AG c.1074dup p.S359Lfs*6 Frameshift 10/12 - 2
11-107393237-AG-A c.1074del p.S359Hfs*43 Frameshift 10/12 - 1
11-107393249-C-G c.1063G>C p.E355Q Missense 10/12 - 1
11-107393266-CA-GC c.1045_1046delinsGC p.C349A Missense 10/12 - 1
11-107393269-A-T c.1043T>A p.V348D Missense 10/12 - 1
11-107393271-C-T c.1041G>A p.L347= Synonymous 10/12 - 2
11-107393273-A-C c.1039T>G p.L347V Missense 10/12 - 2
11-107393273-A-G c.1039T>C p.L347= Synonymous 10/12 - 2
11-107393275-G-A c.1037C>T p.P346L Missense 10/12 - 1
11-107393278-T-C c.1034A>G p.Y345C Missense 10/12 - 1
11-107393439-T-C c.1031-158A>G - IntronicSNV - 9/11 1
11-107393480-T-C c.1031-199A>G - IntronicSNV - 9/11 1
11-107396158-T-A c.1030+9A>T - IntronicSNV - 9/11 5
11-107396158-T-C c.1030+9A>G - IntronicSNV - 9/11 9
11-107396169-CA-GC c.1027_1028delinsGC p.C343A Missense 9/12 - 1
11-107396172-T-C c.1025A>G p.N342S Missense 9/12 - 1
11-107396175-CA-GC c.1021_1022delinsGC p.C341A Missense 9/12 - 1
11-107396178-G-A c.1019C>T p.P340L Missense 9/12 - 1
11-107396179-G-T c.1018C>A p.P340T Missense 9/12 - 1
11-107396198-A-C c.999T>G p.F333L Missense 9/12 - 2
11-107396198-A-T c.999T>A p.F333L Missense 9/12 - 2
11-107396200-A-G c.997T>C p.F333L Missense 9/12 - 2
11-107396210-TG-CA c.986_987inv p.T329M Missense 9/12 - 1
11-107396214-C-T c.983G>A p.R328Q Missense 9/12 - 3
11-107396215-G-A c.982C>T p.R328* Nonsense 9/12 - 5
11-107396223-C-T c.974G>A p.R325K Missense 9/12 - 1
11-107396226-T-G c.971A>C p.K324T Missense 9/12 - 1
11-107396228-G-A c.969C>T p.S323= Synonymous 9/12 - 1
11-107396229-CT-AG c.967_968inv p.S323L Missense 9/12 - 1
11-107396243-T-C c.954A>G p.G318= Synonymous 9/12 - 1
11-107396245-C-G c.952G>C p.G318R Missense 9/12 - 1
11-107396245-C-T c.952G>A p.G318R Missense 9/12 - 1
11-107396246-A-C c.951T>G p.V317= Synonymous 9/12 - 1
11-107396246-A-G c.951T>C p.V317= Synonymous 9/12 - 1
11-107396246-A-T c.951T>A p.V317= Synonymous 9/12 - 1
11-107396247-A-C c.950T>G p.V317G Missense 9/12 - 1
11-107396249-A-T c.948T>A p.D316E Missense 9/12 - 2
11-107396253-CT-GG c.943_944delinsCC p.S315P Missense 9/12 - 1
11-107396262-A-ACCTAAATGTAAATGATGTTCGTAG c.934_935insCTACGAACATCATTTACATTTAGG p.I312delinsTTNIIYI* Frameshift 9/12 - 1
11-107396263-T-C c.934A>G p.I312V Missense 9/12 - 1
11-107396269-T-A c.928A>T p.S310C Missense 9/12 - 1
11-107396277-C-T c.920G>A p.S307N Missense 9/12 - 1
11-107396278-T-A c.919A>T p.S307C Missense 9/12 - 3
11-107396279-C-G c.918G>C p.E306D Missense 9/12 - 1
11-107396285-T-A c.912A>T p.A304= Synonymous 9/12 - 1
11-107396285-T-C c.912A>G p.A304= Synonymous 9/12 - 1
11-107396285-T-G c.912A>C p.A304= Synonymous 9/12 - 1
11-107396287-C-T c.910G>A p.A304T Missense 9/12 - 2
11-107396289-T-C c.908A>G p.Q303R Missense 9/12 - 1
11-107396297-A-T c.900T>A p.D300E Missense 9/12 - 1
11-107396307-C-T c.890G>A p.R297K Missense 9/12 - 1
11-107396310-C-T c.887G>A p.C296Y Missense 9/12 - 1
11-107396311-A-C c.886T>G p.C296G Missense 9/12 - 2
11-107396312-C-A c.885G>T p.T295= Synonymous 9/12 - 1
11-107396312-C-T c.885G>A p.T295= Synonymous 9/12 - 1
11-107396313-G-A c.884C>T p.T295M Missense 9/12 - 1
11-107396315-G-A c.882C>T p.I294= Synonymous 9/12 - 1
11-107396473-A-C c.879-155T>G - IntronicSNV - 8/11 1
11-107402887-G-A c.878+139C>T - IntronicSNV - 8/11 3
11-107402995-A-T c.878+31T>A - IntronicSNV - 8/11 7
11-107403026-C-T c.878G>A p.G293E Missense 8/12 - 1
11-107403034-C-A c.870G>T p.W290C Missense 8/12 - 3
11-107403034-C-G c.870G>C p.W290C Missense 8/12 - 5
11-107403037-A-C c.867T>G p.L289= Synonymous 8/12 - 1
11-107403037-A-G c.867T>C p.L289= Synonymous 8/12 - 1
11-107403037-A-T c.867T>A p.L289= Synonymous 8/12 - 1
11-107403046-A-C c.858T>G p.S286= Synonymous 8/12 - 1
11-107403046-A-G c.858T>C p.S286= Synonymous 8/12 - 1
11-107403046-A-T c.858T>A p.S286= Synonymous 8/12 - 1
11-107403047-G-T c.857C>A p.S286Y Missense 8/12 - 2
11-107403062-A-G c.842T>C p.V281A Missense 8/12 - 1
11-107403067-C-A c.837G>T p.L279F Missense 8/12 - 1
11-107403067-C-G c.837G>C p.L279F Missense 8/12 - 1
11-107403073-C-T c.831G>A p.R277= Synonymous 8/12 - 3
11-107403074-C-T c.830G>A p.R277Q Missense 8/12 - 3
11-107403075-G-A c.829C>T p.R277W Missense 8/12 - 2
11-107403077-C-A c.827G>T p.R276L Missense 8/12 - 1
11-107403077-C-T c.827G>A p.R276H Missense 8/12 - 1
11-107403087-T-A c.817A>T p.M273L Missense 8/12 - 1
11-107403087-T-G c.817A>C p.M273L Missense 8/12 - 1
11-107403090-C-G c.814G>C p.V272L Missense 8/12 - 1
11-107403092-G-A c.812C>T p.P271L Missense 8/12 - 1
11-107403094-C-T c.810G>A p.V270= Synonymous 8/12 - 1
11-107403096-C-A c.808G>T p.V270L Missense 8/12 - 1
11-107403096-C-G c.808G>C p.V270L Missense 8/12 - 1
11-107403099-C-T c.805G>A p.A269T Missense 8/12 - 1
11-107403100-A-G c.804T>C p.I268= Synonymous 8/12 - 1
11-107403112-G-A c.792C>T p.H264= Synonymous 8/12 - 3
11-107403129-C-A c.775G>T p.V259F Missense 8/12 - 2
11-107403329-T-G c.772-197A>C - IntronicSNV - 7/11 1
11-107408592-T-C c.772-5460A>G - IntronicSNV - 7/11 1
11-107420192-G-A c.771+287C>T - IntronicSNV - 7/11 2
11-107420498-G-T c.752C>A p.S251Y Missense 7/12 - 1
11-107420503-G-A c.747C>T p.I249= Synonymous 7/12 - 1
11-107420509-A-C c.741T>G p.D247E Missense 7/12 - 1
11-107420509-A-T c.741T>A p.D247E Missense 7/12 - 1
11-107420519-G-A c.731C>T p.A244V Missense 7/12 - 1
11-107420520-C-T c.730G>A p.A244T Missense 7/12 - 1
11-107420521-G-A c.729C>T p.S243= Synonymous 7/12 - 1
11-107420530-A-G c.720T>C p.D240= Synonymous 7/12 - 20
11-107420535-T-C c.715A>G p.I239V Missense 7/12 - 1
11-107420537-T-C c.713A>G p.H238R Missense 7/12 - 1
11-107420538-G-C c.712C>G p.H238D Missense 7/12 - 1
11-107420542-G-A c.708C>T p.P236= Synonymous 7/12 - 1
11-107420542-G-C c.708C>G p.P236= Synonymous 7/12 - 1
11-107420542-G-T c.708C>A p.P236= Synonymous 7/12 - 1
11-107422315-G-A c.700+219C>T - IntronicSNV - 6/11 1
11-107422401-C-A c.700+133G>T - IntronicSNV - 6/11 1
11-107422401-C-T c.700+133G>A - IntronicSNV - 6/11 1
11-107422419-T-A c.700+115A>T - IntronicSNV - 6/11 1
11-107422420-C-A c.700+114G>T - IntronicSNV - 6/11 1
11-107422434-T-A c.700+100A>T - IntronicSNV - 6/11 1
11-107422434-T-C c.700+100A>G - IntronicSNV - 6/11 1
11-107422437-T-A c.700+97A>T - IntronicSNV - 6/11 1
11-107422533-C-T c.700+1G>A - IntronicSNV - 6/11 1
11-107422535-T-G c.699A>C p.Q233H Missense 6/12 - 3
11-107422537-GCCCAGGTTCATA-G c.685_696del p.Y229_G232del InFrameDeletion 6/12 - 1
11-107422552-G-A c.682C>T p.Q228* Nonsense 6/12 - 1
11-107422564-T-C c.670A>G p.M224V Missense 6/12 - 1
11-107422566-T-C c.668A>G p.Q223R Missense 6/12 - 1
11-107422569-T-A c.665A>T p.D222V Missense 6/12 - 1
11-107422580-T-A c.654A>T p.K218N Missense 6/12 - 1
11-107422580-T-C c.654A>G p.K218= Synonymous 6/12 - 1
11-107422580-T-G c.654A>C p.K218N Missense 6/12 - 1
11-107422591-C-A c.643G>T p.G215C Missense 6/12 - 1
11-107422591-C-G c.643G>C p.G215R Missense 6/12 - 1
11-107422595-C-T c.639G>A p.R213= Synonymous 6/12 - 1
11-107422599-A-T c.635T>A p.L212* Nonsense 6/12 - 1
11-107422601-C-T c.633G>A p.W211* Nonsense 6/12 - 1
11-107422602-C-T c.632G>A p.W211* Nonsense 6/12 - 1
11-107422609-C-A c.625G>T p.E209* Nonsense 6/12 - 1
11-107422619-T-A c.615A>T p.E205D Missense 6/12 - 1
11-107422621-C-T c.613G>A p.E205K Missense 6/12 - 2
11-107422628-G-T c.606C>A p.D202E Missense 6/12 - 1
11-107422633-G-A c.601C>T p.P201S Missense 6/12 - 2
11-107422636-G-C c.598C>G p.L200V Missense 6/12 - 2
11-107423836-C-T c.593G>A p.G198E Missense 5/12 - 2
11-107423852-C-G c.577G>C p.D193H Missense 5/12 - 2
11-107423860-A-G c.569T>C p.V190A Missense 5/12 - 2
11-107423862-A-AT c.566dup p.N189Kfs*4 Frameshift 5/12 - 1
11-107423868-G-C c.561C>G p.N187K Missense 5/12 - 1
11-107423868-G-T c.561C>A p.N187K Missense 5/12 - 1
11-107423875-T-A c.554A>T p.Y185F Missense 5/12 - 1
11-107423906-T-G c.523A>C p.R175= Synonymous 5/12 - 1
11-107423907-TCT-ACA c.520_522delinsTGT p.R174C Missense 5/12 - 1
11-107423907-TCT-ATG c.520_522delinsCAT p.R174H Missense 5/12 - 1
11-107423910-G-C c.519C>G p.H173Q Missense 5/12 - 2
11-107423910-G-T c.519C>A p.H173Q Missense 5/12 - 2
11-107423919-G-A c.510C>T p.S170= Synonymous 5/12 - 2
11-107423920-G-A c.509C>T p.S170F Missense 5/12 - 2
11-107423921-A-T c.508T>A p.S170T Missense 5/12 - 1
11-107424033-T-C c.500-104A>G - IntronicSNV - 4/11 3
11-107424588-T-A c.484A>T p.T162S Missense 4/12 - 2
11-107424591-C-A c.481G>T p.D161Y Missense 4/12 - 3
11-107424594-C-T c.478G>A p.E160K Missense 4/12 - 1
11-107424597-T-A c.475A>T p.T159S Missense 4/12 - 1
11-107424598-C-T c.474G>A p.W158* Nonsense 4/12 - 1
11-107424598-CCAAT-C c.470_473del p.D157Gfs*14 Frameshift 4/12 - 1
11-107424625-C-T c.447G>A p.E149= Synonymous 4/12 - 1
11-107424626-T-A c.446A>T p.E149V Missense 4/12 - 1
11-107424629-T-G c.443A>C p.E148A Missense 4/12 - 1
11-107424633-C-A c.439G>T p.E147* Nonsense 4/12 - 1
11-107424635-G-A c.437C>T p.S146F Missense 4/12 - 4
11-107424635-G-C c.437C>G p.S146C Missense 4/12 - 1
11-107424637-A-G c.435T>C p.S145= Synonymous 4/12 - 1
11-107424639-A-C c.433T>G p.S145A Missense 4/12 - 1
11-107424647-T-C c.425A>G p.E142G Missense 4/12 - 1
11-107424648-C-A c.424G>T p.E142* Nonsense 4/12 - 1
11-107424648-C-T c.424G>A p.E142K Missense 4/12 - 1
11-107424652-TAC-CAT c.418_420delinsATG p.V140M Missense 4/12 - 1
11-107424650-TCTA-T c.419_421del p.V140del InFrameDeletion 4/12 - 1
11-107424655-TACCATG-T c.411_416del p.M138_V139del InFrameDeletion 4/12 - 1
11-107424665-C-T c.407G>A p.G136E Missense 4/12 - 1
11-107424675-A-C c.397T>G p.L133V Missense 4/12 - 1
11-107424676-G-A c.396C>T p.A132= Synonymous 4/12 - 2
11-107424676-G-C c.396C>G p.A132= Synonymous 4/12 - 2
11-107424676-G-T c.396C>A p.A132= Synonymous 4/12 - 2
11-107424681-G-C c.391C>G p.Q131E Missense 4/12 - 1
11-107424685-C-A c.387G>T p.R129S Missense 4/12 - 1
11-107424685-C-G c.387G>C p.R129S Missense 4/12 - 1
11-107424685-C-T c.387G>A p.R129= Synonymous 4/12 - 1
11-107424687-T-A c.385A>T p.R129W Missense 4/12 - 1
11-107424688-C-G c.384G>C p.L128F Missense 4/12 - 1
11-107424703-C-G c.369G>C p.V123= Synonymous 4/12 - 1
11-107424709-G-A c.368-5C>T - IntronicSNV - 3/11 1
11-107427299-T-A c.367+193A>T - IntronicSNV - 3/11 1
11-107427299-T-C c.367+193A>G - IntronicSNV - 3/11 1
11-107427492-C-T c.367G>A p.V123M Missense 3/12 - 1
11-107427499-C-A c.360G>T p.V120= Synonymous 3/12 - 1
11-107427499-CAC-GAT c.358_360delinsATC p.V120I Missense 3/12 - 1
11-107427508-C-A c.351G>T p.L117F Missense 3/12 - 3
11-107427508-C-G c.351G>C p.L117F Missense 3/12 - 1
11-107427522-T-A c.337A>T p.I113F Missense 3/12 - 1
11-107427523-C-A c.336G>T p.K112N Missense 3/12 - 1
11-107427523-C-G c.336G>C p.K112N Missense 3/12 - 1
11-107427527-T-C c.332A>G p.Q111R Missense 3/12 - 1
11-107427533-A-G c.326T>C p.L109S Missense 3/12 - 1
11-107427543-C-T c.316G>A p.V106M Missense 3/12 - 4
11-107427549-C-A c.310G>T p.E104* Nonsense 3/12 - 3
11-107427575-C-G c.284G>C p.R95T Missense 3/12 - 1
11-107427575-C-T c.284G>A p.R95K Missense 3/12 - 4
11-107427582-A-T c.277T>A p.S93T Missense 3/12 - 1
11-107427584-T-G c.275A>C p.E92A Missense 3/12 - 1
11-107427616-C-G c.243G>C p.P81= Synonymous 3/12 - 1
11-107427616-CG-AT c.242_243delinsAT p.P81H Missense 3/12 - 1
11-107427616-C-T c.243G>A p.P81= Synonymous 3/12 - 1
11-107427622-G-C c.237C>G p.N79K Missense 3/12 - 3
11-107427622-G-T c.237C>A p.N79K Missense 3/12 - 3
11-107427625-A-T c.234T>A p.P78= Synonymous 3/12 - 2
11-107427630-G-A c.229C>T p.P77S Missense 3/12 - 1
11-107427631-C-A c.228G>T p.M76I Missense 3/12 - 1
11-107427631-C-G c.228G>C p.M76I Missense 3/12 - 1
11-107427631-C-T c.228G>A p.M76I Missense 3/12 - 1
11-107427644-T-G c.215A>C p.D72A Missense 3/12 - 4
11-107427646-C-A c.213G>T p.V71= Synonymous 3/12 - 1
11-107427646-C-G c.213G>C p.V71= Synonymous 3/12 - 1
11-107427646-C-T c.213G>A p.V71= Synonymous 3/12 - 1
11-107427657-AT-A c.201del p.K67Nfs*9 Frameshift 3/12 - 1
11-107427670-C-T c.189G>A p.P63= Synonymous 3/12 - 1
11-107427671-G-A c.188C>T p.P63L Missense 3/12 - 1
11-107427675-G-A c.184C>T p.L62F Missense 3/12 - 1
11-107427677-A-C c.182T>G p.L61R Missense 3/12 - 5
11-107427684-T-A c.175A>T p.N59Y Missense 3/12 - 1
11-107427686-C-T c.173G>A p.R58Q Missense 3/12 - 1
11-107427687-G-A c.172C>T p.R58W Missense 3/12 - 2
11-107427701-C-A c.158G>T p.G53V Missense 3/12 - 1
11-107427713-T-C c.146A>G p.N49S Missense 3/12 - 2
11-107427720-C-A c.139G>T p.V47F Missense 3/12 - 1
11-107427812-T-A c.130-83A>T - IntronicSNV - 2/11 1
11-107431495-G-A c.125C>T p.T42I Missense 2/12 - 1
11-107431496-T-C c.124A>G p.T42A Missense 2/12 - 1
11-107431497-G-A c.123C>T p.A41= Synonymous 2/12 - 1
11-107431497-G-C c.123C>G p.A41= Synonymous 2/12 - 1
11-107431497-G-T c.123C>A p.A41= Synonymous 2/12 - 1
11-107431499-C-T c.121G>A p.A41T Missense 2/12 - 2
11-107431501-T-G c.119A>C p.Y40S Missense 2/12 - 1
11-107431510-G-A c.110C>T p.T37I Missense 2/12 - 1
11-107431510-G-T c.110C>A p.T37K Missense 2/12 - 1
11-107431513-T-A c.107A>T p.E36V Missense 2/12 - 1
11-107431514-C-G c.106G>C p.E36Q Missense 2/12 - 1
11-107431514-C-T c.106G>A p.E36K Missense 2/12 - 1
11-107431517-T-C c.103A>G p.I35V Missense 2/12 - 1
11-107431519-C-G c.101G>C p.G34A Missense 2/12 - 1
11-107431523-C-T c.97G>A p.E33K Missense 2/12 - 1
11-107431532-G-A c.88C>T p.L30= Synonymous 2/12 - 1
11-107431542-C-T c.78G>A p.K26= Synonymous 2/12 - 1
11-107431546-G-T c.74C>A p.A25D Missense 2/12 - 1
11-107431547-C-T c.73G>A p.A25T Missense 2/12 - 3
11-107431560-C-T c.60G>A p.R20= Synonymous 2/12 - 1
11-107431562-T-G c.58A>C p.R20= Synonymous 2/12 - 1
11-107431570-T-A c.50A>T p.K17M Missense 2/12 - 1
11-107431577-C-T c.43G>A p.E15K Missense 2/12 - 4
11-107431585-C-T c.35G>A p.S12N Missense 2/12 - 1
11-107431592-T-C c.28A>G p.K10E Missense 2/12 - 1
11-107431597-T-C c.23A>G p.N8S Missense 2/12 - 1
11-107431600-C-A c.20G>T p.S7I Missense 2/12 - 1
11-107431601-T-C c.19A>G p.S7G Missense 2/12 - 1
11-107431600-CT-C c.19del p.S7Vfs*13 Frameshift 2/12 - 1
11-107431604-G-C c.16C>G p.Q6E Missense 2/12 - 1
11-107431612-C-T c.8G>A p.S3N Missense 2/12 - 1
11-107431617-C-A c.3G>T p.M1? Missense 2/12 - 1
11-107431617-C-T c.3G>A p.M1? Missense 2/12 - 1
11-107431637-C-A c.-6-12G>T - IntronicSNV - 1/11 4
11-107431637-C-T c.-6-12G>A - IntronicSNV - 1/11 4
11-107431661-A-C c.-6-36T>G - IntronicSNV - 1/11 1
11-107431989-C-A c.-6-364G>T - IntronicSNV - 1/11 1
11-107431989-C-T c.-6-364G>A - IntronicSNV - 1/11 1
11-107434029-C-T c.-7+2298G>A - intron_variant - 1/11 1