USP44

USP44 ubiquitin specific peptidase 44

Annotation transcript: NM_032147.5

614 unique variant annotations were identified in 296 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-95910846-G-T c.*1084C>A - 3-UTRSNV 6/6 - 2
12-95911950-A-C c.2119T>G p.S707A Missense 6/6 - 1
12-95911951-AC-A c.2118del p.S707Lfs*26 Frameshift 6/6 - 2
12-95911951-C-T c.2118G>A p.S706= Synonymous 6/6 - 2
12-95911952-G-A c.2117C>T p.S706L Missense 6/6 - 1
12-95911959-C-T c.2110G>A p.D704N Missense 6/6 - 1
12-95911960-A-G c.2109T>C p.A703= Synonymous 6/6 - 2
12-95911960-A-T c.2109T>A p.A703= Synonymous 6/6 - 1
12-95911962-C-T c.2107G>A p.A703T Missense 6/6 - 2
12-95911963-G-A c.2106C>T p.D702= Synonymous 6/6 - 3
12-95911968-C-T c.2101G>A p.E701K Missense 6/6 - 1
12-95911971-T-G c.2098A>C p.N700H Missense 6/6 - 2
12-95911973-G-A c.2096C>T p.P699L Missense 6/6 - 1
12-95911973-G-C c.2096C>G p.P699R Missense 6/6 - 1
12-95911974-G-C c.2095C>G p.P699A Missense 6/6 - 1
12-95911978-T-C c.2091A>G p.Q697= Synonymous 6/6 - 1
12-95911978-T-G c.2091A>C p.Q697H Missense 6/6 - 1
12-95911986-C-T c.2083G>A p.G695R Missense 6/6 - 2
12-95911987-C-T c.2082G>A p.L694= Synonymous 6/6 - 1
12-95911989-A-G c.2080T>C p.L694= Synonymous 6/6 - 3
12-95911996-C-T c.2073G>A p.E691= Synonymous 6/6 - 1
12-95911998-C-T c.2071G>A p.E691K Missense 6/6 - 1
12-95912001-G-C c.2068C>G p.P690A Missense 6/6 - 2
12-95912007-A-C c.2062T>G p.L688V Missense 6/6 - 1
12-95912009-A-G c.2060T>C p.L687P Missense 6/6 - 4
12-95912013-T-A c.2056A>T p.K686* Nonsense 6/6 - 1
12-95912015-GA-TT c.2053_2054delinsAA p.S685N Missense 6/6 - 1
12-95912026-C-A c.2043G>T p.E681D Missense 6/6 - 1
12-95912026-C-G c.2043G>C p.E681D Missense 6/6 - 1
12-95912028-C-T c.2041G>A p.E681K Missense 6/6 - 1
12-95912029-A-C c.2040T>G p.T680= Synonymous 6/6 - 1
12-95912029-A-G c.2040T>C p.T680= Synonymous 6/6 - 1
12-95912029-AG-CA c.2039_2040delinsTG p.T680M Missense 6/6 - 1
12-95912029-A-T c.2040T>A p.T680= Synonymous 6/6 - 1
12-95912036-C-T c.2033G>A p.R678Q Missense 6/6 - 1
12-95912037-G-A c.2032C>T p.R678* Nonsense 6/6 - 1
12-95912045-T-C c.2024A>G p.Y675C Missense 6/6 - 1
12-95912046-A-G c.2023T>C p.Y675H Missense 6/6 - 1
12-95912058-A-G c.2011T>C p.Y671H Missense 6/6 - 1
12-95912060-G-A c.2009C>T p.A670V Missense 6/6 - 1
12-95912069-TTGCATACTTCATCCATAG-T c.1982_1999del p.T661_C666del InFrameDeletion 6/6 - 1
12-95912079-C-T c.1990G>A p.E664K Missense 6/6 - 1
12-95912083-C-T c.1986G>A p.M662I Missense 6/6 - 2
12-95912107-A-G c.1962T>C p.D654= Synonymous 6/6 - 1
12-95912111-T-C c.1958A>G p.N653S Missense 6/6 - 1
12-95912125-G-C c.1944C>G p.F648L Missense 6/6 - 1
12-95912125-G-T c.1944C>A p.F648L Missense 6/6 - 1
12-95912127-A-G c.1942T>C p.F648L Missense 6/6 - 1
12-95913562-A-T c.1939+1211T>A - IntronicSNV - 5/5 1
12-95914687-T-C c.1939+86A>G - IntronicSNV - 5/5 4
12-95914753-A-G c.1939+20T>C - IntronicSNV - 5/5 1
12-95914758-T-C c.1939+15A>G - IntronicSNV - 5/5 1
12-95914775-C-T c.1937G>A p.G646E Missense 5/6 - 2
12-95914793-T-C c.1919A>G p.Y640C Missense 5/6 - 1
12-95914797-C-T c.1915G>A p.A639T Missense 5/6 - 1
12-95914799-G-T c.1913C>A p.T638N Missense 5/6 - 1
12-95914801-G-T c.1911C>A p.Y637* Nonsense 5/6 - 1
12-95914825-C-T c.1887G>A p.G629= Synonymous 5/6 - 2
12-95914826-C-G c.1886G>C p.G629A Missense 5/6 - 1
12-95914826-C-T c.1886G>A p.G629E Missense 5/6 - 3
12-95914834-C-A c.1878G>T p.M626I Missense 5/6 - 3
12-95914834-C-G c.1878G>C p.M626I Missense 5/6 - 3
12-95914834-C-T c.1878G>A p.M626I Missense 5/6 - 5
12-95914840-C-A c.1872G>T p.V624= Synonymous 5/6 - 1
12-95914842-C-T c.1870G>A p.V624M Missense 5/6 - 1
12-95914849-C-T c.1863G>A p.L621= Synonymous 5/6 - 1
12-95914849-C-CA c.1862dup p.L621Ffs*23 Frameshift 5/6 - 1
12-95914858-G-A c.1854C>T p.I618= Synonymous 5/6 - 2
12-95914858-G-T c.1854C>A p.I618= Synonymous 5/6 - 1
12-95914859-A-T c.1853T>A p.I618N Missense 5/6 - 1
12-95914865-C-G c.1847G>C p.C616S Missense 5/6 - 1
12-95914869-C-T c.1843G>A p.E615K Missense 5/6 - 1
12-95914873-T-C c.1839A>G p.R613= Synonymous 5/6 - 1
12-95914875-T-G c.1837A>C p.R613= Synonymous 5/6 - 1
12-95914874-C-T c.1838G>A p.R613K Missense 5/6 - 1
12-95914879-G-A c.1833C>T p.S611= Synonymous 5/6 - 1
12-95914879-G-C c.1833C>G p.S611= Synonymous 5/6 - 1
12-95914879-G-T c.1833C>A p.S611= Synonymous 5/6 - 1
12-95914891-C-T c.1821G>A p.E607= Synonymous 5/6 - 3
12-95914893-C-T c.1819G>A p.E607K Missense 5/6 - 3
12-95914903-A-T c.1809T>A p.Y603* Nonsense 5/6 - 3
12-95914904-T-C c.1808A>G p.Y603C Missense 5/6 - 2
12-95914906-G-A c.1806C>T p.P602= Synonymous 5/6 - 2
12-95914908-G-A c.1804C>T p.P602S Missense 5/6 - 6
12-95914911-C-A c.1801G>T p.E601* Nonsense 5/6 - 1
12-95914915-G-C c.1797C>G p.N599K Missense 5/6 - 1
12-95914915-G-T c.1797C>A p.N599K Missense 5/6 - 1
12-95914916-T-A c.1796A>T p.N599I Missense 5/6 - 5
12-95914916-T-C c.1796A>G p.N599S Missense 5/6 - 1
12-95914922-A-G c.1790T>C p.I597T Missense 5/6 - 2
12-95914926-C-T c.1786G>A p.E596K Missense 5/6 - 7
12-95914932-A-T c.1780T>A p.F594I Missense 5/6 - 1
12-95914934-C-A c.1778G>T p.G593V Missense 5/6 - 1
12-95914939-A-G c.1773T>C p.H591= Synonymous 5/6 - 1
12-95914940-T-G c.1772A>C p.H591P Missense 5/6 - 1
12-95914946-C-T c.1766G>A p.G589D Missense 5/6 - 1
12-95914948-A-G c.1764T>C p.I588= Synonymous 5/6 - 1
12-95914952-T-G c.1760A>C p.K587T Missense 5/6 - 4
12-95914956-TCTCGGTTA-T c.1749_1756del p.N583Kfs*10 Frameshift 5/6 - 1
12-95914958-C-T c.1754G>A p.R585Q Missense 5/6 - 1
12-95914959-G-A c.1753C>T p.R585* Nonsense 5/6 - 2
12-95914959-G-T c.1753C>A p.R585= Synonymous 5/6 - 2
12-95914962-T-C c.1750A>G p.N584D Missense 5/6 - 1
12-95914966-A-C c.1746T>G p.R582= Synonymous 5/6 - 2
12-95914966-A-G c.1746T>C p.R582= Synonymous 5/6 - 2
12-95914966-A-T c.1746T>A p.R582= Synonymous 5/6 - 2
12-95914968-G-A c.1744C>T p.R582C Missense 5/6 - 2
12-95914976-C-T c.1736G>A p.W579* Nonsense 5/6 - 1
12-95915341-G-A c.1734-363C>T - IntronicSNV - 4/5 1
12-95915341-G-C c.1734-363C>G - IntronicSNV - 4/5 1
12-95915763-A-G c.1734-785T>C - IntronicSNV - 4/5 1
12-95918371-G-A c.1733+85C>T - IntronicSNV - 4/5 1
12-95918457-T-C c.1732A>G p.R578G Missense 4/6 - 2
12-95918458-G-A c.1731C>T p.F577= Synonymous 4/6 - 3
12-95918463-G-A c.1726C>T p.R576* Nonsense 4/6 - 1
12-95918464-T-C c.1725A>G p.K575= Synonymous 4/6 - 1
12-95918468-A-G c.1721T>C p.L574P Missense 4/6 - 1
12-95918476-TCT-CCA c.1711_1713delinsTGG p.R571W Missense 4/6 - 1
12-95918479-G-A c.1710C>T p.L570= Synonymous 4/6 - 1
12-95918479-G-C c.1710C>G p.L570= Synonymous 4/6 - 2
12-95918479-G-T c.1710C>A p.L570= Synonymous 4/6 - 1
12-95918480-A-T c.1709T>A p.L570H Missense 4/6 - 1
12-95918490-G-A c.1699C>T p.P567S Missense 4/6 - 1
12-95918491-T-A c.1698A>T p.L566= Synonymous 4/6 - 1
12-95918491-T-C c.1698A>G p.L566= Synonymous 4/6 - 1
12-95918491-T-G c.1698A>C p.L566= Synonymous 4/6 - 1
12-95918493-G-A c.1696C>T p.L566= Synonymous 4/6 - 1
12-95918497-G-A c.1692C>T p.C564= Synonymous 4/6 - 1
12-95918498-C-T c.1691G>A p.C564Y Missense 4/6 - 4
12-95918503-C-T c.1686G>A p.M562I Missense 4/6 - 2
12-95918504-A-G c.1685T>C p.M562T Missense 4/6 - 1
12-95918513-T-C c.1676A>G p.K559R Missense 4/6 - 1
12-95918521-T-C c.1668A>G p.E556= Synonymous 4/6 - 4
12-95918522-T-A c.1667A>T p.E556V Missense 4/6 - 1
12-95918523-C-T c.1666G>A p.E556K Missense 4/6 - 2
12-95918527-G-A c.1662C>T p.L554= Synonymous 4/6 - 3
12-95918527-G-C c.1662C>G p.L554= Synonymous 4/6 - 4
12-95918527-G-T c.1662C>A p.L554= Synonymous 4/6 - 3
12-95918546-G-A c.1643C>T p.S548F Missense 4/6 - 8
12-95918548-A-C c.1641T>G p.F547L Missense 4/6 - 2
12-95918548-A-T c.1641T>A p.F547L Missense 4/6 - 2
12-95918550-A-G c.1639T>C p.F547L Missense 4/6 - 2
12-95918551-C-T c.1638G>A p.R546= Synonymous 4/6 - 1
12-95918564-G-A c.1625C>T p.S542L Missense 4/6 - 1
12-95918610-T-G c.1625-46A>C - IntronicSNV - 3/5 1
12-95921998-T-C c.1624+585A>G - IntronicSNV - 3/5 1
12-95922592-G-A c.1615C>T p.Q539* Nonsense 3/6 - 1
12-95922593-G-A c.1614C>T p.D538= Synonymous 3/6 - 1
12-95922601-C-T c.1606G>A p.V536I Missense 3/6 - 2
12-95922602-G-A c.1605C>T p.Y535= Synonymous 3/6 - 1
12-95922605-G-A c.1602C>T p.I534= Synonymous 3/6 - 1
12-95922607-T-C c.1600A>G p.I534V Missense 3/6 - 1
12-95922612-C-T c.1595G>A p.G532E Missense 3/6 - 4
12-95922613-C-T c.1594G>A p.G532R Missense 3/6 - 1
12-95922614-T-A c.1593A>T p.E531D Missense 3/6 - 1
12-95922614-T-G c.1593A>C p.E531D Missense 3/6 - 1
12-95922615-T-A c.1592A>T p.E531V Missense 3/6 - 1
12-95922617-T-C c.1590A>G p.L530= Synonymous 3/6 - 2
12-95922631-C-A c.1576G>T p.E526* Nonsense 3/6 - 3
12-95922631-C-T c.1576G>A p.E526K Missense 3/6 - 5
12-95922633-G-C c.1574C>G p.T525R Missense 3/6 - 1
12-95922639-T-G c.1568A>C p.K523T Missense 3/6 - 1
12-95922643-C-A c.1564G>T p.A522S Missense 3/6 - 1
12-95922650-T-A c.1557A>T p.E519D Missense 3/6 - 1
12-95922650-T-G c.1557A>C p.E519D Missense 3/6 - 1
12-95922653-A-T c.1554T>A p.T518= Synonymous 3/6 - 1
12-95922654-G-A c.1553C>T p.T518I Missense 3/6 - 1
12-95922655-T-C c.1552A>G p.T518A Missense 3/6 - 1
12-95922666-G-A c.1541C>T p.P514L Missense 3/6 - 1
12-95922667-G-A c.1540C>T p.P514S Missense 3/6 - 1
12-95922671-GG-TT c.1535_1536delinsAA p.S512* Nonsense 3/6 - 1
12-95922682-C-A c.1525G>T p.D509Y Missense 3/6 - 1
12-95922687-C-T c.1520G>A p.G507E Missense 3/6 - 2
12-95922698-A-C c.1509T>G p.Y503* Nonsense 3/6 - 1
12-95922698-A-T c.1509T>A p.Y503* Nonsense 3/6 - 1
12-95922706-C-A c.1501G>T p.E501* Nonsense 3/6 - 1
12-95922712-A-G c.1495T>C p.F499L Missense 3/6 - 1
12-95922713-C-G c.1494G>C p.E498D Missense 3/6 - 1
12-95922715-C-T c.1492G>A p.E498K Missense 3/6 - 1
12-95922716-C-A c.1491G>T p.L497F Missense 3/6 - 1
12-95922716-C-G c.1491G>C p.L497F Missense 3/6 - 1
12-95922718-A-G c.1489T>C p.L497= Synonymous 3/6 - 1
12-95922721-A-G c.1486T>C p.S496P Missense 3/6 - 1
12-95922735-G-A c.1472C>T p.P491L Missense 3/6 - 2
12-95922736-G-A c.1471C>T p.P491S Missense 3/6 - 1
12-95922739-C-A c.1468G>T p.E490* Nonsense 3/6 - 1
12-95922754-T-C c.1453A>G p.K485E Missense 3/6 - 1
12-95922761-A-G c.1446T>C p.C482= Synonymous 3/6 - 1
12-95923620-G-GA c.1429-843dup - IntronicInsertion - 2/5 1
12-95924934-T-C c.1428+1671A>G - IntronicSNV - 2/5 1
12-95925580-G-GCGCGCCCTCGCGCCCT c.-71+2522_-71+2523insAGGGCGCGAGGGCGCG - IntronicInsertion - 1/5 1
12-95926604-C-T c.1428+1G>A - IntronicSNV - 2/5 1
12-95926604-CCTGA-C c.1425_1428del p.S475Rfs*14 SpliceDonorDeletion 2/6 - 1
12-95926607-G-A c.1426C>T p.Q476* Nonsense 2/6 - 1
12-95926611-A-C c.1422T>G p.L474= Synonymous 2/6 - 1
12-95926611-A-G c.1422T>C p.L474= Synonymous 2/6 - 1
12-95926611-A-T c.1422T>A p.L474= Synonymous 2/6 - 1
12-95926630-A-G c.1403T>C p.I468T Missense 2/6 - 1
12-95926647-C-A c.1386G>T p.L462= Synonymous 2/6 - 1
12-95926647-C-G c.1386G>C p.L462= Synonymous 2/6 - 1
12-95926647-C-T c.1386G>A p.L462= Synonymous 2/6 - 1
12-95926649-G-A c.1384C>T p.L462= Synonymous 2/6 - 1
12-95926652-C-A c.1381G>T p.V461F Missense 2/6 - 1
12-95926667-T-G c.1366A>C p.K456Q Missense 2/6 - 1
12-95926668-C-T c.1365G>A p.R455= Synonymous 2/6 - 3
12-95926673-G-C c.1360C>G p.Q454E Missense 2/6 - 1
12-95926675-G-T c.1358C>A p.S453Y Missense 2/6 - 1
12-95926677-A-C c.1356T>G p.T452= Synonymous 2/6 - 1
12-95926677-A-G c.1356T>C p.T452= Synonymous 2/6 - 1
12-95926677-A-T c.1356T>A p.T452= Synonymous 2/6 - 1
12-95926684-A-G c.1349T>C p.I450T Missense 2/6 - 1
12-95926686-A-C c.1347T>G p.L449= Synonymous 2/6 - 1
12-95926686-A-G c.1347T>C p.L449= Synonymous 2/6 - 1
12-95926686-A-T c.1347T>A p.L449= Synonymous 2/6 - 1
12-95926690-G-A c.1343C>T p.A448V Missense 2/6 - 1
12-95926691-C-T c.1342G>A p.A448T Missense 2/6 - 1
12-95926695-T-A c.1338A>T p.L446F Missense 2/6 - 1
12-95926695-T-G c.1338A>C p.L446F Missense 2/6 - 1
12-95926702-G-A c.1331C>T p.T444I Missense 2/6 - 2
12-95926705-C-G c.1328G>C p.G443A Missense 2/6 - 1
12-95926706-C-T c.1327G>A p.G443S Missense 2/6 - 3
12-95926710-T-A c.1323A>T p.T441= Synonymous 2/6 - 1
12-95926710-T-C c.1323A>G p.T441= Synonymous 2/6 - 1
12-95926710-T-G c.1323A>C p.T441= Synonymous 2/6 - 1
12-95926723-C-T c.1310G>A p.R437H Missense 2/6 - 3
12-95926724-G-A c.1309C>T p.R437C Missense 2/6 - 1
12-95926736-C-T c.1297G>A p.D433N Missense 2/6 - 1
12-95926745-C-T c.1288G>A p.E430K Missense 2/6 - 3
12-95926746-A-C c.1287T>G p.C429W Missense 2/6 - 1
12-95926746-A-G c.1287T>C p.C429= Synonymous 2/6 - 1
12-95926751-G-T c.1282C>A p.L428I Missense 2/6 - 1
12-95926755-T-A c.1278A>T p.E426D Missense 2/6 - 1
12-95926755-T-G c.1278A>C p.E426D Missense 2/6 - 1
12-95926763-C-G c.1270G>C p.A424P Missense 2/6 - 1
12-95926763-C-T c.1270G>A p.A424T Missense 2/6 - 1
12-95926764-G-A c.1269C>T p.D423= Synonymous 2/6 - 1
12-95926766-C-T c.1267G>A p.D423N Missense 2/6 - 1
12-95926770-T-A c.1263A>T p.Q421H Missense 2/6 - 2
12-95926775-C-T c.1258G>A p.A420T Missense 2/6 - 2
12-95926776-G-A c.1257C>T p.Y419= Synonymous 2/6 - 1
12-95926776-G-C c.1257C>G p.Y419* Nonsense 2/6 - 1
12-95926776-G-T c.1257C>A p.Y419* Nonsense 2/6 - 1
12-95926783-C-T c.1250G>A p.R417H Missense 2/6 - 1
12-95926789-G-T c.1244C>A p.A415D Missense 2/6 - 1
12-95926791-A-C c.1242T>G p.P414= Synonymous 2/6 - 2
12-95926791-A-G c.1242T>C p.P414= Synonymous 2/6 - 2
12-95926791-A-T c.1242T>A p.P414= Synonymous 2/6 - 2
12-95926798-A-G c.1235T>C p.L412P Missense 2/6 - 4
12-95926799-G-A c.1234C>T p.L412F Missense 2/6 - 1
12-95926810-G-A c.1223C>T p.S408L Missense 2/6 - 1
12-95926815-TAG-AAA c.1216_1218delinsTTT p.L406F Missense 2/6 - 1
12-95926822-G-T c.1211C>A p.A404D Missense 2/6 - 1
12-95926835-C-A c.1198G>T p.V400F Missense 2/6 - 3
12-95926839-C-A c.1194G>T p.A398= Synonymous 2/6 - 1
12-95926839-C-G c.1194G>C p.A398= Synonymous 2/6 - 1
12-95926839-C-T c.1194G>A p.A398= Synonymous 2/6 - 1
12-95926846-T-G c.1187A>C p.K396T Missense 2/6 - 1
12-95926847-T-C c.1186A>G p.K396E Missense 2/6 - 1
12-95926856-A-C c.1177T>G p.W393G Missense 2/6 - 1
12-95926864-T-C c.1169A>G p.Q390R Missense 2/6 - 1
12-95926864-T-G c.1169A>C p.Q390P Missense 2/6 - 1
12-95926868-A-G c.1165T>C p.F389L Missense 2/6 - 1
12-95926869-C-T c.1164G>A p.L388= Synonymous 2/6 - 1
12-95926872-A-G c.1161T>C p.T387= Synonymous 2/6 - 1
12-95926874-T-C c.1159A>G p.T387A Missense 2/6 - 1
12-95926881-T-A c.1152A>T p.E384D Missense 2/6 - 1
12-95926881-T-G c.1152A>C p.E384D Missense 2/6 - 1
12-95926883-C-T c.1150G>A p.E384K Missense 2/6 - 1
12-95926892-G-C c.1141C>G p.L381V Missense 2/6 - 1
12-95926894-G-T c.1139C>A p.S380Y Missense 2/6 - 1
12-95926899-G-A c.1134C>T p.Y378= Synonymous 2/6 - 2
12-95926902-C-T c.1131G>A p.Q377= Synonymous 2/6 - 1
12-95926911-T-A c.1122A>T p.P374= Synonymous 2/6 - 2
12-95926911-T-C c.1122A>G p.P374= Synonymous 2/6 - 1
12-95926911-T-G c.1122A>C p.P374= Synonymous 2/6 - 1
12-95926922-G-A c.1111C>T p.P371S Missense 2/6 - 1
12-95926925-G-A c.1108C>T p.Q370* Nonsense 2/6 - 1
12-95926931-G-C c.1102C>G p.L368V Missense 2/6 - 4
12-95926935-C-G c.1098G>C p.M366I Missense 2/6 - 1
12-95926941-TCT-CCA c.1090_1092delinsTGG p.R364W Missense 2/6 - 1
12-95926946-C-T c.1087G>A p.G363S Missense 2/6 - 1
12-95926947-TT-CA c.1085_1086delinsTG p.K362M Missense 2/6 - 1
12-95926958-C-G c.1075G>C p.G359R Missense 2/6 - 2
12-95926958-C-T c.1075G>A p.G359R Missense 2/6 - 7
12-95926965-T-A c.1068A>T p.L356= Synonymous 2/6 - 1
12-95926965-T-C c.1068A>G p.L356= Synonymous 2/6 - 1
12-95926965-T-G c.1068A>C p.L356= Synonymous 2/6 - 1
12-95926967-G-A c.1066C>T p.L356= Synonymous 2/6 - 1
12-95926969-C-T c.1064G>A p.G355E Missense 2/6 - 1
12-95926970-C-A c.1063G>T p.G355* Nonsense 2/6 - 3
12-95926979-G-A c.1054C>T p.L352= Synonymous 2/6 - 1
12-95926981-C-G c.1052G>C p.S351T Missense 2/6 - 1
12-95926990-C-A c.1043G>T p.R348I Missense 2/6 - 1
12-95926991-T-C c.1042A>G p.R348G Missense 2/6 - 3
12-95926992-G-C c.1041C>G p.S347= Synonymous 2/6 - 1
12-95926994-A-C c.1039T>G p.S347A Missense 2/6 - 1
12-95927006-C-G c.1027G>C p.G343R Missense 2/6 - 1
12-95927012-C-A c.1021G>T p.D341Y Missense 2/6 - 1
12-95927019-C-G c.1014G>C p.Q338H Missense 2/6 - 1
12-95927019-C-T c.1014G>A p.Q338= Synonymous 2/6 - 1
12-95927021-G-A c.1012C>T p.Q338* Nonsense 2/6 - 2
12-95927022-A-G c.1011T>C p.C337= Synonymous 2/6 - 1
12-95927027-C-A c.1006G>T p.E336* Nonsense 2/6 - 1
12-95927027-C-G c.1006G>C p.E336Q Missense 2/6 - 1
12-95927022-ACATT-A c.1007_1010del p.E336Vfs*20 Frameshift 2/6 - 2
12-95927036-G-A c.997C>T p.Q333* Nonsense 2/6 - 3
12-95927037-A-G c.996T>C p.Y332= Synonymous 2/6 - 9
12-95927038-T-C c.995A>G p.Y332C Missense 2/6 - 5
12-95927044-A-C c.989T>G p.V330G Missense 2/6 - 1
12-95927051-C-A c.982G>T p.D328Y Missense 2/6 - 1
12-95927059-G-A c.974C>T p.P325L Missense 2/6 - 1
12-95927060-G-C c.973C>G p.P325A Missense 2/6 - 1
12-95927062-G-A c.971C>T p.P324L Missense 2/6 - 1
12-95927076-T-C c.957A>G p.R319= Synonymous 2/6 - 1
12-95927077-C-A c.956G>T p.R319I Missense 2/6 - 3
12-95927078-T-C c.955A>G p.R319G Missense 2/6 - 1
12-95927087-C-G c.946G>C p.E316Q Missense 2/6 - 4
12-95927087-C-T c.946G>A p.E316K Missense 2/6 - 3
12-95927088-G-A c.945C>T p.S315= Synonymous 2/6 - 1
12-95927097-C-A c.936G>T p.M312I Missense 2/6 - 3
12-95927097-C-G c.936G>C p.M312I Missense 2/6 - 2
12-95927097-C-T c.936G>A p.M312I Missense 2/6 - 3
12-95927102-C-T c.931G>A p.A311T Missense 2/6 - 1
12-95927108-A-G c.925T>C p.W309R Missense 2/6 - 1
12-95927108-A-T c.925T>A p.W309R Missense 2/6 - 1
12-95927115-C-A c.918G>T p.L306= Synonymous 2/6 - 2
12-95927115-C-G c.918G>C p.L306= Synonymous 2/6 - 2
12-95927115-C-T c.918G>A p.L306= Synonymous 2/6 - 2
12-95927117-G-A c.916C>T p.L306= Synonymous 2/6 - 2
12-95927116-A-G c.917T>C p.L306P Missense 2/6 - 4
12-95927119-T-G c.914A>C p.D305A Missense 2/6 - 1
12-95927124-C-A c.909G>T p.K303N Missense 2/6 - 1
12-95927124-C-G c.909G>C p.K303N Missense 2/6 - 1
12-95927133-A-G c.900T>C p.C300= Synonymous 2/6 - 1
12-95927141-G-A c.892C>T p.R298* Nonsense 2/6 - 3
12-95927141-GA-G c.891del p.R298Dfs*5 Frameshift 2/6 - 1
12-95927156-G-T c.877C>A p.H293N Missense 2/6 - 1
12-95927166-C-A c.867G>T p.Q289H Missense 2/6 - 1
12-95927169-A-C c.864T>G p.L288= Synonymous 2/6 - 1
12-95927171-G-T c.862C>A p.L288I Missense 2/6 - 1
12-95927176-G-T c.857C>A p.S286Y Missense 2/6 - 1
12-95927181-C-A c.852G>T p.M284I Missense 2/6 - 1
12-95927181-C-T c.852G>A p.M284I Missense 2/6 - 4
12-95927182-A-G c.851T>C p.M284T Missense 2/6 - 1
12-95927188-C-A c.845G>T p.C282F Missense 2/6 - 1
12-95927188-CA-GC c.844_845delinsGC p.C282A Missense 2/6 - 6
12-95927188-C-G c.845G>C p.C282S Missense 2/6 - 2
12-95927189-A-T c.844T>A p.C282S Missense 2/6 - 2
12-95927191-G-A c.842C>T p.T281I Missense 2/6 - 1
12-95927197-C-T c.836G>A p.G279E Missense 2/6 - 4
12-95927196-TC-T c.836del p.G279Efs*6 Frameshift 2/6 - 1
12-95927201-A-C c.832T>G p.L278V Missense 2/6 - 3
12-95927204-T-G c.829A>C p.N277H Missense 2/6 - 1
12-95927206-C-A c.827G>T p.R276I Missense 2/6 - 1
12-95927206-C-T c.827G>A p.R276K Missense 2/6 - 3
12-95927207-T-A c.826A>T p.R276* Nonsense 2/6 - 1
12-95927207-T-G c.826A>C p.R276= Synonymous 2/6 - 1
12-95927217-T-C c.816A>G p.V272= Synonymous 2/6 - 1
12-95927218-A-G c.815T>C p.V272A Missense 2/6 - 1
12-95927225-G-A c.808C>T p.P270S Missense 2/6 - 1
12-95927233-A-G c.800T>C p.I267T Missense 2/6 - 1
12-95927238-C-T c.795G>A p.R265= Synonymous 2/6 - 1
12-95927242-C-T c.791G>A p.R264Q Missense 2/6 - 2
12-95927243-G-A c.790C>T p.R264* Nonsense 2/6 - 1
12-95927247-A-G c.786T>C p.V262= Synonymous 2/6 - 1
12-95927248-A-T c.785T>A p.V262D Missense 2/6 - 1
12-95927253-G-A c.780C>T p.S260= Synonymous 2/6 - 3
12-95927254-G-A c.779C>T p.S260F Missense 2/6 - 3
12-95927261-T-C c.772A>G p.S258G Missense 2/6 - 1
12-95927265-T-C c.768A>G p.K256= Synonymous 2/6 - 1
12-95927270-G-A c.763C>T p.Q255* Nonsense 2/6 - 3
12-95927271-A-C c.762T>G p.S254= Synonymous 2/6 - 1
12-95927271-A-G c.762T>C p.S254= Synonymous 2/6 - 1
12-95927271-A-T c.762T>A p.S254= Synonymous 2/6 - 1
12-95927279-C-T c.754G>A p.E252K Missense 2/6 - 2
12-95927284-TTCTG-T c.746_749del p.S249* Frameshift 2/6 - 1
12-95927298-T-A c.735A>T p.V245= Synonymous 2/6 - 2
12-95927298-T-C c.735A>G p.V245= Synonymous 2/6 - 3
12-95927298-T-G c.735A>C p.V245= Synonymous 2/6 - 3
12-95927300-C-T c.733G>A p.V245I Missense 2/6 - 1
12-95927304-A-C c.729T>G p.D243E Missense 2/6 - 1
12-95927304-A-T c.729T>A p.D243E Missense 2/6 - 1
12-95927308-T-C c.725A>G p.K242R Missense 2/6 - 2
12-95927315-G-A c.718C>T p.P240S Missense 2/6 - 1
12-95927317-G-A c.716C>T p.S239L Missense 2/6 - 1
12-95927325-C-T c.708G>A p.T236= Synonymous 2/6 - 2
12-95927331-T-C c.702A>G p.A234= Synonymous 2/6 - 2
12-95927332-G-A c.701C>T p.A234V Missense 2/6 - 1
12-95927333-C-A c.700G>T p.A234S Missense 2/6 - 1
12-95927340-C-A c.693G>T p.Q231H Missense 2/6 - 1
12-95927341-T-C c.692A>G p.Q231R Missense 2/6 - 1
12-95927342-G-A c.691C>T p.Q231* Nonsense 2/6 - 1
12-95927344-A-G c.689T>C p.V230A Missense 2/6 - 1
12-95927347-G-A c.686C>T p.S229F Missense 2/6 - 4
12-95927351-C-A c.682G>T p.V228F Missense 2/6 - 1
12-95927351-C-T c.682G>A p.V228I Missense 2/6 - 1
12-95927353-ATTTC-A c.676_679del p.E226* Frameshift 2/6 - 1
12-95927357-C-G c.676G>C p.E226Q Missense 2/6 - 2
12-95927357-C-T c.676G>A p.E226K Missense 2/6 - 3
12-95927358-T-A c.675A>T p.I225= Synonymous 2/6 - 1
12-95927358-T-G c.675A>C p.I225= Synonymous 2/6 - 1
12-95927367-C-A c.666G>T p.S222= Synonymous 2/6 - 1
12-95927367-C-G c.666G>C p.S222= Synonymous 2/6 - 1
12-95927367-C-T c.666G>A p.S222= Synonymous 2/6 - 3
12-95927368-G-A c.665C>T p.S222L Missense 2/6 - 2
12-95927372-G-A c.661C>T p.Q221* Nonsense 2/6 - 4
12-95927375-C-T c.658G>A p.A220T Missense 2/6 - 1
12-95927378-G-T c.655C>A p.L219I Missense 2/6 - 1
12-95927379-CCC-GCT c.652_654delinsAGC p.G218S Missense 2/6 - 1
12-95927389-C-G c.644G>C p.R215P Missense 2/6 - 1
12-95927404-G-A c.629C>T p.P210L Missense 2/6 - 1
12-95927418-C-A c.615G>T p.L205F Missense 2/6 - 2
12-95927418-C-G c.615G>C p.L205F Missense 2/6 - 1
12-95927423-C-T c.610G>A p.E204K Missense 2/6 - 1
12-95927429-T-C c.604A>G p.K202E Missense 2/6 - 2
12-95927441-C-CA c.591_592insT p.E198* Nonsense 2/6 - 1
12-95927441-C-G c.592G>C p.E198Q Missense 2/6 - 1
12-95927447-C-A c.586G>T p.E196* Nonsense 2/6 - 1
12-95927448-C-A c.585G>T p.Q195H Missense 2/6 - 1
12-95927450-G-T c.583C>A p.Q195K Missense 2/6 - 1
12-95927451-C-T c.582G>A p.R194= Synonymous 2/6 - 1
12-95927452-C-T c.581G>A p.R194Q Missense 2/6 - 1
12-95927453-G-A c.580C>T p.R194W Missense 2/6 - 1
12-95927454-T-A c.579A>T p.R193S Missense 2/6 - 1
12-95927454-T-G c.579A>C p.R193S Missense 2/6 - 1
12-95927460-C-A c.573G>T p.K191N Missense 2/6 - 1
12-95927460-C-T c.573G>A p.K191= Synonymous 2/6 - 1
12-95927464-A-G c.569T>C p.V190A Missense 2/6 - 1
12-95927464-A-T c.569T>A p.V190E Missense 2/6 - 1
12-95927469-TCT-ATG c.562_564delinsCAT p.R188H Missense 2/6 - 1
12-95927486-T-C c.547A>G p.K183E Missense 2/6 - 1
12-95927486-T-G c.547A>C p.K183Q Missense 2/6 - 2
12-95927482-A-AT c.550dup p.I184Nfs*19 Frameshift 2/6 - 3
12-95927482-AT-A c.550del p.I184* Frameshift 2/6 - 1
12-95927489-C-T c.544G>A p.E182K Missense 2/6 - 1
12-95927491-T-C c.542A>G p.Q181R Missense 2/6 - 1
12-95927496-T-C c.537A>G p.P179= Synonymous 2/6 - 1
12-95927498-G-C c.535C>G p.P179A Missense 2/6 - 1
12-95927508-C-T c.525G>A p.K175= Synonymous 2/6 - 2
12-95927513-T-A c.520A>T p.K174* Nonsense 2/6 - 2
12-95927515-C-T c.518G>A p.R173K Missense 2/6 - 1
12-95927518-C-T c.515G>A p.G172E Missense 2/6 - 6
12-95927530-T-G c.503A>C p.Q168P Missense 2/6 - 3
12-95927532-T-C c.501A>G p.E167= Synonymous 2/6 - 2
12-95927534-C-G c.499G>C p.E167Q Missense 2/6 - 2
12-95927535-A-G c.498T>C p.F166= Synonymous 2/6 - 1
12-95927539-C-T c.494G>A p.W165* Nonsense 2/6 - 2
12-95927545-C-A c.488G>T p.R163L Missense 2/6 - 2
12-95927545-C-T c.488G>A p.R163Q Missense 2/6 - 7
12-95927547-A-G c.486T>C p.F162= Synonymous 2/6 - 1
12-95927554-T-A c.479A>T p.K160I Missense 2/6 - 1
12-95927554-T-G c.479A>C p.K160T Missense 2/6 - 1
12-95927557-C-T c.476G>A p.G159D Missense 2/6 - 1
12-95927558-C-T c.475G>A p.G159S Missense 2/6 - 1
12-95927559-C-A c.474G>T p.M158I Missense 2/6 - 1
12-95927562-T-A c.471A>T p.L157= Synonymous 2/6 - 1
12-95927562-T-C c.471A>G p.L157= Synonymous 2/6 - 1
12-95927562-T-G c.471A>C p.L157= Synonymous 2/6 - 1
12-95927564-G-A c.469C>T p.L157= Synonymous 2/6 - 2
12-95927569-CT-TA c.463_464delinsTA p.R155* Nonsense 2/6 - 1
12-95927575-C-T c.458G>A p.R153K Missense 2/6 - 1
12-95927575-CT-GG c.457_458delinsCC p.R153P Missense 2/6 - 1
12-95927581-C-T c.452G>A p.W151* Nonsense 2/6 - 2
12-95927582-A-G c.451T>C p.W151R Missense 2/6 - 1
12-95927582-A-T c.451T>A p.W151R Missense 2/6 - 1
12-95927584-A-C c.449T>G p.L150R Missense 2/6 - 1
12-95927592-A-G c.441T>C p.Y147= Synonymous 2/6 - 2
12-95927594-A-G c.439T>C p.Y147H Missense 2/6 - 1
12-95927603-C-T c.430G>A p.D144N Missense 2/6 - 1
12-95927620-GA-AG c.412_413delinsCT p.S138L Missense 2/6 - 1
12-95927620-G-C c.413C>G p.S138C Missense 2/6 - 1
12-95927625-G-A c.408C>T p.A136= Synonymous 2/6 - 1
12-95927625-G-C c.408C>G p.A136= Synonymous 2/6 - 1
12-95927625-G-T c.408C>A p.A136= Synonymous 2/6 - 1
12-95927626-G-A c.407C>T p.A136V Missense 2/6 - 2
12-95927640-G-A c.393C>T p.F131= Synonymous 2/6 - 1
12-95927648-A-G c.385T>C p.S129P Missense 2/6 - 1
12-95927652-A-G c.381T>C p.D127= Synonymous 2/6 - 1
12-95927656-C-T c.377G>A p.G126D Missense 2/6 - 1
12-95927659-G-A c.374C>T p.T125I Missense 2/6 - 1
12-95927666-T-A c.367A>T p.M123L Missense 2/6 - 2
12-95927666-T-C c.367A>G p.M123V Missense 2/6 - 2
12-95927666-T-G c.367A>C p.M123L Missense 2/6 - 6
12-95927668-G-A c.365C>T p.S122F Missense 2/6 - 1
12-95927672-G-A c.361C>T p.R121W Missense 2/6 - 5
12-95927678-A-C c.355T>G p.F119V Missense 2/6 - 1
12-95927680-C-A c.353G>T p.R118M Missense 2/6 - 2
12-95927684-C-A c.349G>T p.G117W Missense 2/6 - 2
12-95927689-C-T c.344G>A p.R115H Missense 2/6 - 1
12-95927690-G-A c.343C>T p.R115C Missense 2/6 - 4
12-95927692-G-A c.341C>T p.T114I Missense 2/6 - 1
12-95927697-G-A c.336C>T p.C112= Synonymous 2/6 - 2
12-95927701-T-C c.332A>G p.H111R Missense 2/6 - 1
12-95927713-C-T c.320G>A p.S107N Missense 2/6 - 1
12-95927713-CT-AG c.319_320inv p.S107L Missense 2/6 - 1
12-95927721-G-T c.312C>A p.A104= Synonymous 2/6 - 1
12-95927722-G-T c.311C>A p.A104D Missense 2/6 - 1
12-95927724-A-T c.309T>A p.S103R Missense 2/6 - 2
12-95927734-C-T c.299G>A p.R100H Missense 2/6 - 3
12-95927735-G-A c.298C>T p.R100C Missense 2/6 - 1
12-95927737-C-T c.296G>A p.R99Q Missense 2/6 - 4
12-95927738-G-A c.295C>T p.R99* Nonsense 2/6 - 2
12-95927746-T-C c.287A>G p.K96R Missense 2/6 - 1
12-95927752-T-C c.281A>G p.D94G Missense 2/6 - 1
12-95927755-C-G c.278G>C p.G93A Missense 2/6 - 1
12-95927760-T-A c.273A>T p.T91= Synonymous 2/6 - 2
12-95927760-T-C c.273A>G p.T91= Synonymous 2/6 - 2
12-95927760-T-G c.273A>C p.T91= Synonymous 2/6 - 2
12-95927762-T-C c.271A>G p.T91A Missense 2/6 - 35
12-95927763-G-A c.270C>T p.N90= Synonymous 2/6 - 1
12-95927765-T-A c.268A>T p.N90Y Missense 2/6 - 1
12-95927768-C-T c.265G>A p.D89N Missense 2/6 - 2
12-95927775-A-C c.258T>G p.V86= Synonymous 2/6 - 1
12-95927775-A-G c.258T>C p.V86= Synonymous 2/6 - 1
12-95927775-A-T c.258T>A p.V86= Synonymous 2/6 - 1
12-95927782-T-C c.251A>G p.D84G Missense 2/6 - 1
12-95927783-C-A c.250G>T p.D84Y Missense 2/6 - 5
12-95927786-C-A c.247G>T p.D83Y Missense 2/6 - 1
12-95927787-A-G c.246T>C p.C82= Synonymous 2/6 - 1
12-95927790-A-C c.243T>G p.L81= Synonymous 2/6 - 1
12-95927790-A-G c.243T>C p.L81= Synonymous 2/6 - 1
12-95927790-A-T c.243T>A p.L81= Synonymous 2/6 - 1
12-95927793-G-C c.240C>G p.Y80* Nonsense 2/6 - 1
12-95927793-G-T c.240C>A p.Y80* Nonsense 2/6 - 1
12-95927795-A-G c.238T>C p.Y80H Missense 2/6 - 2
12-95927797-C-CA c.235dup p.C79Lfs*5 Frameshift 2/6 - 1
12-95927803-A-G c.230T>C p.V77A Missense 2/6 - 1
12-95927804-C-T c.229G>A p.V77I Missense 2/6 - 2
12-95927805-G-A c.228C>T p.Y76= Synonymous 2/6 - 1
12-95927805-G-C c.228C>G p.Y76* Nonsense 2/6 - 1
12-95927805-G-T c.228C>A p.Y76* Nonsense 2/6 - 1
12-95927810-T-C c.223A>G p.M75V Missense 2/6 - 1
12-95927813-C-T c.220G>A p.E74K Missense 2/6 - 2
12-95927815-T-C c.218A>G p.N73S Missense 2/6 - 1
12-95927820-C-A c.213G>T p.E71D Missense 2/6 - 6
12-95927820-C-G c.213G>C p.E71D Missense 2/6 - 3
12-95927820-C-T c.213G>A p.E71= Synonymous 2/6 - 1
12-95927822-C-G c.211G>C p.E71Q Missense 2/6 - 1
12-95927822-C-T c.211G>A p.E71K Missense 2/6 - 1
12-95927823-C-A c.210G>T p.L70F Missense 2/6 - 1
12-95927823-C-G c.210G>C p.L70F Missense 2/6 - 1
12-95927823-C-T c.210G>A p.L70= Synonymous 2/6 - 2
12-95927825-A-T c.208T>A p.L70M Missense 2/6 - 1
12-95927839-C-T c.194G>A p.S65N Missense 2/6 - 1
12-95927842-C-A c.191G>T p.S64I Missense 2/6 - 1
12-95927842-C-G c.191G>C p.S64T Missense 2/6 - 2
12-95927844-T-G c.189A>C p.E63D Missense 2/6 - 1
12-95927846-C-A c.187G>T p.E63* Nonsense 2/6 - 2
12-95927848-T-A c.185A>T p.Q62L Missense 2/6 - 2
12-95927852-A-C c.181T>G p.F61V Missense 2/6 - 1
12-95927861-G-A c.172C>T p.L58F Missense 2/6 - 1
12-95927861-G-C c.172C>G p.L58V Missense 2/6 - 1
12-95927864-C-A c.169G>T p.A57S Missense 2/6 - 1
12-95927867-G-A c.166C>T p.H56Y Missense 2/6 - 1
12-95927884-C-T c.149G>A p.G50E Missense 2/6 - 1
12-95927893-A-G c.140T>C p.V47A Missense 2/6 - 1
12-95927903-CA-C c.130del p.C44Afs*29 Frameshift 2/6 - 1
12-95927905-C-CT c.127dup p.S43Kfs*12 Frameshift 2/6 - 1
12-95927909-G-A c.124C>T p.L42F Missense 2/6 - 3
12-95927910-G-C c.123C>G p.C41W Missense 2/6 - 2
12-95927916-C-A c.117G>T p.W39C Missense 2/6 - 5
12-95927916-C-G c.117G>C p.W39C Missense 2/6 - 3
12-95927917-C-A c.116G>T p.W39L Missense 2/6 - 1
12-95927919-A-G c.114T>C p.I38= Synonymous 2/6 - 1
12-95927922-G-A c.111C>T p.S37= Synonymous 2/6 - 2
12-95927922-G-C c.111C>G p.S37= Synonymous 2/6 - 2
12-95927922-G-T c.111C>A p.S37= Synonymous 2/6 - 2
12-95927927-C-T c.106G>A p.E36K Missense 2/6 - 4
12-95927928-G-A c.105C>T p.T35= Synonymous 2/6 - 1
12-95927928-G-C c.105C>G p.T35= Synonymous 2/6 - 1
12-95927933-T-G c.100A>C p.T34P Missense 2/6 - 1
12-95927934-G-A c.99C>T p.N33= Synonymous 2/6 - 3
12-95927941-T-A c.92A>T p.D31V Missense 2/6 - 1
12-95927943-C-A c.90G>T p.V30= Synonymous 2/6 - 1
12-95927943-C-G c.90G>C p.V30= Synonymous 2/6 - 1
12-95927943-C-T c.90G>A p.V30= Synonymous 2/6 - 1
12-95927945-C-T c.88G>A p.V30M Missense 2/6 - 3
12-95927950-T-C c.83A>G p.H28R Missense 2/6 - 1
12-95927951-G-A c.82C>T p.H28Y Missense 2/6 - 1
12-95927956-T-A c.77A>T p.K26I Missense 2/6 - 2
12-95927960-G-A c.73C>T p.Q25* Nonsense 2/6 - 2
12-95927966-T-C c.67A>G p.N23D Missense 2/6 - 1
12-95927967-G-C c.66C>G p.L22= Synonymous 2/6 - 1
12-95927971-C-A c.62G>T p.S21I Missense 2/6 - 1
12-95927971-C-G c.62G>C p.S21T Missense 2/6 - 1
12-95927978-G-A c.55C>T p.H19Y Missense 2/6 - 1
12-95927980-T-A c.53A>T p.D18V Missense 2/6 - 1
12-95927980-T-C c.53A>G p.D18G Missense 2/6 - 1
12-95927985-A-C c.48T>G p.A16= Synonymous 2/6 - 1
12-95927985-A-G c.48T>C p.A16= Synonymous 2/6 - 1
12-95927985-AGC-TTA c.46_48delinsTAA p.A16* Nonsense 2/6 - 1
12-95927985-A-T c.48T>A p.A16= Synonymous 2/6 - 1
12-95927986-GC-AA c.46_47delinsTT p.A16F Missense 2/6 - 1
12-95927986-GC-TA c.46_47delinsTA p.A16Y Missense 2/6 - 1
12-95927987-C-T c.46G>A p.A16T Missense 2/6 - 2
12-95927987-C-CAGGAAGAAGTT c.45_46insAACTTCTTCCT p.A16Nfs*61 Frameshift 2/6 - 1
12-95927990-G-A c.43C>T p.L15F Missense 2/6 - 1
12-95927995-AG-GC c.37_38delinsGC p.L13A Missense 2/6 - 1
12-95928001-C-T c.32G>A p.G11E Missense 2/6 - 6
12-95928005-C-T c.28G>A p.V10I Missense 2/6 - 1
12-95928020-C-T c.13G>A p.D5N Missense 2/6 - 1
12-95928021-C-A c.12G>T p.M4I Missense 2/6 - 1
12-95928021-C-G c.12G>C p.M4I Missense 2/6 - 1
12-95928021-C-T c.12G>A p.M4I Missense 2/6 - 1
12-95928113-C-A c.-70-11G>T - IntronicSNV - 1/5 2
12-95928560-C-T c.-70-458G>A - IntronicSNV - 1/5 1
12-95930681-C-G c.-70-2579G>C - IntronicSNV - 1/5 1
12-95930681-C-T c.-70-2579G>A - IntronicSNV - 1/5 1
12-95941907-C-A c.-71+3141G>T - intron_variant - 1/5 2
12-95942550-C-G c.-71+2498G>C - intron_variant - 1/5 1
12-95942550-C-T c.-71+2498G>A - intron_variant - 1/5 1
12-95942578-C-G c.-71+2470G>C - intron_variant - 1/5 1
12-95942578-C-T c.-71+2470G>A - intron_variant - 1/5 1
12-95945172-G-C c.-195C>G - 5_prime_UTR_variant 1/6 - 4