BBS7

BBS7 Bardet-Biedl syndrome 7

Annotation transcript: NM_176824.3

725 unique variant annotations were identified in 386 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
4-122745729-C-T c.*1286G>A - 3-UTRSNV 19/19 - 3
4-122746325-A-G c.*690T>C - 3-UTRSNV 19/19 - 4
4-122746596-A-T c.*419T>A - 3-UTRSNV 19/19 - 3
4-122747026-C-T c.2137G>A p.D713N Missense 19/19 - 3
4-122747030-G-A c.2133C>T p.F711= Synonymous 19/19 - 2
4-122747030-G-T c.2133C>A p.F711L Missense 19/19 - 3
4-122747030-G-C c.2133C>G p.F711L Missense 19/19 - 2
4-122747032-A-G c.2131T>C p.F711L Missense 19/19 - 2
4-122747044-C-T c.2119G>A p.A707T Missense 19/19 - 1
4-122747046-T-C c.2117A>G p.N706S Missense 19/19 - 1
4-122747051-G-A c.2112C>T p.D704= Synonymous 19/19 - 1
4-122747060-G-A c.2103C>T p.D701= Synonymous 19/19 - 1
4-122747060-G-T c.2103C>A p.D701E Missense 19/19 - 2
4-122747062-C-T c.2101G>A p.D701N Missense 19/19 - 1
4-122747071-C-A c.2092G>T p.E698* Nonsense 19/19 - 1
4-122747082-G-T c.2081C>A p.P694H Missense 19/19 - 1
4-122747087-T-C c.2076A>G p.K692= Synonymous 19/19 - 1
4-122747089-T-C c.2074A>G p.K692E Missense 19/19 - 2
4-122747093-T-A c.2070A>T p.K690N Missense 19/19 - 1
4-122747093-T-G c.2070A>C p.K690N Missense 19/19 - 1
4-122747098-C-A c.2065G>T p.V689L Missense 19/19 - 1
4-122747098-C-G c.2065G>C p.V689L Missense 19/19 - 1
4-122747100-T-C c.2063A>G p.N688S Missense 19/19 - 3
4-122747102-G-A c.2061C>T p.T687= Synonymous 19/19 - 1
4-122747102-G-C c.2061C>G p.T687= Synonymous 19/19 - 1
4-122747102-G-T c.2061C>A p.T687= Synonymous 19/19 - 1
4-122747114-C-A c.2049G>T p.K683N Missense 19/19 - 1
4-122747114-C-G c.2049G>C p.K683N Missense 19/19 - 1
4-122747125-C-T c.2038G>A p.D680N Missense 19/19 - 1
4-122747129-G-A c.2034C>T p.F678= Synonymous 19/19 - 1
4-122747132-A-C c.2031T>G p.L677= Synonymous 19/19 - 1
4-122747132-A-G c.2031T>C p.L677= Synonymous 19/19 - 1
4-122747132-A-T c.2031T>A p.L677= Synonymous 19/19 - 1
4-122747142-A-G c.2021T>C p.I674T Missense 19/19 - 1
4-122747144-C-A c.2019G>T p.M673I Missense 19/19 - 2
4-122747144-C-G c.2019G>C p.M673I Missense 19/19 - 1
4-122747144-C-T c.2019G>A p.M673I Missense 19/19 - 1
4-122747146-T-A c.2017A>T p.M673L Missense 19/19 - 1
4-122747147-G-A c.2016C>T p.G672= Synonymous 19/19 - 2
4-122747147-G-C c.2016C>G p.G672= Synonymous 19/19 - 1
4-122747147-G-T c.2016C>A p.G672= Synonymous 19/19 - 1
4-122747148-C-T c.2015G>A p.G672D Missense 19/19 - 1
4-122748308-G-A c.2014+993C>T - IntronicSNV - 18/18 1
4-122748996-A-C c.2014+305T>G - IntronicSNV - 18/18 5
4-122748996-A-T c.2014+305T>A - IntronicSNV - 18/18 3
4-122749299-A-C c.2014+2T>G - IntronicSNV - 18/18 1
4-122749300-C-A c.2014+1G>T - IntronicSNV - 18/18 1
4-122749300-C-T c.2014+1G>A - IntronicSNV - 18/18 2
4-122749301-C-A c.2014G>T p.G672C Missense 18/19 - 2
4-122749303-T-C c.2012A>G p.Y671C Missense 18/19 - 2
4-122749308-TCT-ATG c.2005_2007delinsCAT p.R669H Missense 18/19 - 1
4-122749310-T-G c.2005A>C p.R669= Synonymous 18/19 - 2
4-122749313-C-T c.2002G>A p.E668K Missense 18/19 - 1
4-122749324-G-A c.1991C>T p.P664L Missense 18/19 - 1
4-122749328-G-T c.1987C>A p.Q663K Missense 18/19 - 1
4-122749334-T-C c.1981A>G p.K661E Missense 18/19 - 1
4-122749340-C-A c.1975G>T p.E659* Nonsense 18/19 - 2
4-122749347-GT-G c.1968del p.Q657Rfs*17 Frameshift 18/19 - 1
4-122749347-TA-G c.1967_1968delinsC p.L656Pfs*18 Frameshift 18/19 - 2
4-122749352-G-C c.1963C>G p.H655D Missense 18/19 - 2
4-122749361-C-G c.1954G>C p.E652Q Missense 18/19 - 1
4-122749364-C-T c.1951G>A p.E651K Missense 18/19 - 1
4-122749367-G-C c.1948C>G p.L650V Missense 18/19 - 1
4-122749385-G-C c.1930C>G p.P644A Missense 18/19 - 1
4-122749397-T-C c.1918A>G p.N640D Missense 18/19 - 1
4-122749407-C-T c.1908G>A p.E636= Synonymous 18/19 - 1
4-122749411-T-A c.1904A>T p.H635L Missense 18/19 - 1
4-122749412-G-T c.1903C>A p.H635N Missense 18/19 - 1
4-122749413-A-G c.1902T>C p.I634= Synonymous 18/19 - 1
4-122749413-A-T c.1902T>A p.I634= Synonymous 18/19 - 1
4-122749414-AT-GC c.1900_1901delinsGC p.I634A Missense 18/19 - 1
4-122749421-AT-A c.1893del p.E631Dfs*12 Frameshift 18/19 - 1
4-122749436-G-A c.1891-12C>T - IntronicSNV - 17/18 11
4-122749436-G-T c.1891-12C>A - IntronicSNV - 17/18 11
4-122749541-C-A c.1890+16G>T - IntronicSNV - 17/18 8
4-122749541-C-T c.1890+16G>A - IntronicSNV - 17/18 11
4-122749559-T-TA c.1887_1888insT p.K630* Nonsense 17/19 - 1
4-122749556-C-CT c.1890dup p.E631Rfs*6 SpliceDonorInsertion 17/19 - 1
4-122749556-CT-C c.1890del p.E631Nfs*12 Frameshift 17/19 - 1
4-122749564-G-A c.1883C>T p.A628V Missense 17/19 - 2
4-122749568-C-T c.1879G>A p.D627N Missense 17/19 - 1
4-122749572-T-C c.1875A>G p.L625= Synonymous 17/19 - 1
4-122749579-A-C c.1868T>G p.V623G Missense 17/19 - 1
4-122749583-T-A c.1864A>T p.K622* Nonsense 17/19 - 1
4-122749602-G-A c.1845C>T p.Y615= Synonymous 17/19 - 4
4-122749605-C-A c.1842G>T p.E614D Missense 17/19 - 1
4-122749607-C-T c.1840G>A p.E614K Missense 17/19 - 1
4-122749615-G-A c.1832C>T p.P611L Missense 17/19 - 1
4-122749630-A-G c.1817T>C p.L606S Missense 17/19 - 1
4-122749635-G-T c.1812C>A p.H604Q Missense 17/19 - 1
4-122749642-A-T c.1805T>A p.V602D Missense 17/19 - 1
4-122749645-G-A c.1802C>T p.S601L Missense 17/19 - 3
4-122749657-A-G c.1790T>C p.I597T Missense 17/19 - 1
4-122749660-T-C c.1787A>G p.E596G Missense 17/19 - 1
4-122749774-C-T c.1786G>A p.E596K Missense 16/19 - 1
4-122749775-G-A c.1785C>T p.Y595= Synonymous 16/19 - 2
4-122749790-G-T c.1770C>A p.N590K Missense 16/19 - 1
4-122749801-T-TA c.1758_1759insT p.R587* Nonsense 16/19 - 1
4-122749809-G-A c.1751C>T p.A584V Missense 16/19 - 1
4-122749825-C-T c.1735G>A p.V579M Missense 16/19 - 1
4-122749828-C-A c.1732G>T p.D578Y Missense 16/19 - 1
4-122749830-T-C c.1730A>G p.K577R Missense 16/19 - 1
4-122749834-G-A c.1726C>T p.L576= Synonymous 16/19 - 3
4-122749835-G-A c.1725C>T p.I575= Synonymous 16/19 - 1
4-122749835-G-T c.1725C>A p.I575= Synonymous 16/19 - 1
4-122749839-G-A c.1721C>T p.S574F Missense 16/19 - 1
4-122749839-GA-AG c.1720_1721delinsCT p.S574L Missense 16/19 - 1
4-122749839-G-C c.1721C>G p.S574C Missense 16/19 - 2
4-122749840-A-T c.1720T>A p.S574T Missense 16/19 - 2
4-122749843-T-C c.1717A>G p.I573V Missense 16/19 - 1
4-122749847-AG-TCT c.1712_1713delinsAGA p.S571* Frameshift 16/19 - 1
4-122749860-G-A c.1700C>T p.S567F Missense 16/19 - 1
4-122749870-C-G c.1690G>C p.V564L Missense 16/19 - 1
4-122749874-C-T c.1686G>A p.E562= Synonymous 16/19 - 2
4-122750054-T-C c.1677-171A>G - IntronicSNV - 15/18 1
4-122750079-C-T c.1677-196G>A - IntronicSNV - 15/18 2
4-122751061-G-A c.1677-1178C>T - IntronicSNV - 15/18 4
4-122754389-T-A c.1673A>T p.Y558F Missense 15/19 - 1
4-122754389-T-C c.1673A>G p.Y558C Missense 15/19 - 1
4-122754394-A-C c.1668T>G p.S556R Missense 15/19 - 1
4-122754394-A-T c.1668T>A p.S556R Missense 15/19 - 1
4-122754396-T-G c.1666A>C p.S556R Missense 15/19 - 1
4-122754395-C-T c.1667G>A p.S556N Missense 15/19 - 1
4-122754399-C-A c.1663G>T p.E555* Nonsense 15/19 - 1
4-122754405-G-A c.1657C>T p.Q553* Nonsense 15/19 - 2
4-122754418-G-A c.1644C>T p.T548= Synonymous 15/19 - 2
4-122754418-G-C c.1644C>G p.T548= Synonymous 15/19 - 2
4-122754418-G-T c.1644C>A p.T548= Synonymous 15/19 - 2
4-122754419-G-A c.1643C>T p.T548I Missense 15/19 - 1
4-122754424-C-T c.1638G>A p.Q546= Synonymous 15/19 - 1
4-122754426-G-A c.1636C>T p.Q546* Nonsense 15/19 - 2
4-122754427-A-C c.1635T>G p.F545L Missense 15/19 - 2
4-122754427-A-T c.1635T>A p.F545L Missense 15/19 - 2
4-122754429-A-G c.1633T>C p.F545L Missense 15/19 - 2
4-122754433-A-C c.1629T>G p.F543L Missense 15/19 - 3
4-122754433-A-T c.1629T>A p.F543L Missense 15/19 - 2
4-122754435-A-G c.1627T>C p.F543L Missense 15/19 - 2
4-122754435-A-T c.1627T>A p.F543I Missense 15/19 - 1
4-122754437-G-A c.1625C>T p.T542I Missense 15/19 - 2
4-122754440-A-G c.1622T>C p.V541A Missense 15/19 - 1
4-122754443-C-T c.1619G>A p.C540Y Missense 15/19 - 4
4-122754447-C-T c.1615G>A p.E539K Missense 15/19 - 1
4-122754449-C-T c.1613G>A p.G538E Missense 15/19 - 2
4-122754455-G-A c.1607C>T p.P536L Missense 15/19 - 1
4-122754459-G-T c.1603C>A p.P535T Missense 15/19 - 1
4-122754465-C-T c.1597G>A p.E533K Missense 15/19 - 1
4-122754464-TCTGGAA-T c.1592_1597del p.V531_P532del InFrameDeletion 15/19 - 2
4-122754467-G-A c.1595C>T p.P532L Missense 15/19 - 1
4-122754468-G-C c.1594C>G p.P532A Missense 15/19 - 2
4-122754473-T-C c.1589A>G p.E530G Missense 15/19 - 1
4-122754477-G-A c.1585C>T p.P529S Missense 15/19 - 4
4-122754480-G-C c.1582C>G p.L528V Missense 15/19 - 1
4-122754493-C-A c.1569G>T p.W523C Missense 15/19 - 2
4-122754493-C-G c.1569G>C p.W523C Missense 15/19 - 1
4-122754496-G-A c.1566C>T p.S522= Synonymous 15/19 - 1
4-122754497-G-A c.1565C>T p.S522F Missense 15/19 - 1
4-122754501-G-A c.1561C>T p.H521Y Missense 15/19 - 4
4-122754504-C-T c.1558G>A p.V520I Missense 15/19 - 1
4-122754517-G-C c.1545C>G p.F515L Missense 15/19 - 2
4-122754517-G-T c.1545C>A p.F515L Missense 15/19 - 1
4-122754519-A-G c.1543T>C p.F515L Missense 15/19 - 1
4-122754521-T-A c.1541A>T p.Q514L Missense 15/19 - 1
4-122754522-G-T c.1540C>A p.Q514K Missense 15/19 - 1
4-122754524-C-T c.1538G>A p.G513D Missense 15/19 - 1
4-122754525-C-G c.1537G>C p.G513R Missense 15/19 - 1
4-122754533-G-A c.1529C>T p.T510I Missense 15/19 - 1
4-122754537-G-T c.1525C>A p.L509M Missense 15/19 - 3
4-122754542-T-C c.1520A>G p.N507S Missense 15/19 - 3
4-122754544-C-T c.1518G>A p.M506I Missense 15/19 - 1
4-122754549-G-A c.1513C>T p.P505S Missense 15/19 - 1
4-122754889-A-C c.1512-339T>G - IntronicSNV - 14/18 1
4-122754889-A-G c.1512-339T>C - IntronicSNV - 14/18 1
4-122754889-A-T c.1512-339T>A - IntronicSNV - 14/18 1
4-122756274-G-T c.1511+25C>A - IntronicSNV - 14/18 2
4-122756290-T-A c.1511+9A>T - IntronicSNV - 14/18 1
4-122756297-A-C c.1511+2T>G - IntronicSNV - 14/18 1
4-122756299-C-T c.1511G>A p.R504K Missense 14/19 - 1
4-122756303-C-G c.1507G>C p.D503H Missense 14/19 - 1
4-122756306-G-A c.1504C>T p.H502Y Missense 14/19 - 1
4-122756318-G-A c.1492C>T p.H498Y Missense 14/19 - 3
4-122756323-C-A c.1487G>T p.R496I Missense 14/19 - 2
4-122756323-CT-AG c.1486_1487inv p.R496L Missense 14/19 - 1
4-122756329-T-C c.1481A>G p.H494R Missense 14/19 - 2
4-122756331-G-A c.1479C>T p.L493= Synonymous 14/19 - 1
4-122756339-G-C c.1471C>G p.L491V Missense 14/19 - 1
4-122756341-G-A c.1469C>T p.P490L Missense 14/19 - 5
4-122756342-G-T c.1468C>A p.P490T Missense 14/19 - 1
4-122756344-T-C c.1466A>G p.K489R Missense 14/19 - 3
4-122756350-T-G c.1460A>C p.H487P Missense 14/19 - 1
4-122756353-T-C c.1457A>G p.Y486C Missense 14/19 - 1
4-122756359-C-T c.1451G>A p.R484H Missense 14/19 - 1
4-122756360-G-A c.1450C>T p.R484C Missense 14/19 - 1
4-122756360-G-C c.1450C>G p.R484G Missense 14/19 - 1
4-122756365-T-C c.1445A>G p.Q482R Missense 14/19 - 1
4-122756368-C-A c.1442G>T p.C481F Missense 14/19 - 1
4-122756368-C-T c.1442G>A p.C481Y Missense 14/19 - 2
4-122756371-G-A c.1439C>T p.T480I Missense 14/19 - 1
4-122756377-G-T c.1433C>A p.P478H Missense 14/19 - 2
4-122756382-A-T c.1428T>A p.I476= Synonymous 14/19 - 1
4-122756386-C-A c.1424G>T p.R475I Missense 14/19 - 3
4-122756397-A-G c.1413T>C p.Y471= Synonymous 14/19 - 1
4-122756398-T-C c.1412A>G p.Y471C Missense 14/19 - 4
4-122756413-C-T c.1397G>A p.G466D Missense 14/19 - 5
4-122756415-A-T c.1395T>A p.Y465* Nonsense 14/19 - 1
4-122756417-A-G c.1393T>C p.Y465H Missense 14/19 - 1
4-122756422-C-T c.1388G>A p.G463D Missense 14/19 - 1
4-122756423-C-T c.1387G>A p.G463S Missense 14/19 - 2
4-122756429-T-C c.1381A>G p.I461V Missense 14/19 - 1
4-122756431-G-A c.1379C>T p.S460L Missense 14/19 - 1
4-122756431-G-C c.1379C>G p.S460* Nonsense 14/19 - 1
4-122756431-G-T c.1379C>A p.S460* Nonsense 14/19 - 1
4-122756435-G-A c.1375C>T p.R459C Missense 14/19 - 3
4-122760134-T-C c.1371+652A>G - IntronicSNV - 13/18 1
4-122760789-G-A c.1368C>T p.L456= Synonymous 13/19 - 1
4-122760789-G-C c.1368C>G p.L456= Synonymous 13/19 - 1
4-122760789-G-T c.1368C>A p.L456= Synonymous 13/19 - 1
4-122760790-A-T c.1367T>A p.L456H Missense 13/19 - 1
4-122760798-CCT-ACA c.1357_1359delinsTGT p.R453C Missense 13/19 - 1
4-122760801-T-A c.1356A>T p.T452= Synonymous 13/19 - 1
4-122760801-T-C c.1356A>G p.T452= Synonymous 13/19 - 1
4-122760801-T-G c.1356A>C p.T452= Synonymous 13/19 - 1
4-122760802-G-A c.1355C>T p.T452I Missense 13/19 - 1
4-122760802-G-T c.1355C>A p.T452K Missense 13/19 - 1
4-122760805-G-A c.1352C>T p.T451I Missense 13/19 - 2
4-122760806-T-C c.1351A>G p.T451A Missense 13/19 - 1
4-122760811-G-A c.1346C>T p.A449V Missense 13/19 - 1
4-122760813-C-T c.1344G>A p.Q448= Synonymous 13/19 - 2
4-122760816-G-A c.1341C>T p.C447= Synonymous 13/19 - 3
4-122760817-C-T c.1340G>A p.C447Y Missense 13/19 - 1
4-122760821-G-A c.1336C>T p.R446W Missense 13/19 - 6
4-122760823-T-C c.1334A>G p.Y445C Missense 13/19 - 1
4-122760828-G-T c.1329C>A p.A443= Synonymous 13/19 - 1
4-122760830-C-T c.1327G>A p.A443T Missense 13/19 - 1
4-122760833-G-A c.1324C>T p.L442F Missense 13/19 - 1
4-122760836-G-A c.1321C>T p.L441F Missense 13/19 - 1
4-122760839-A-G c.1318T>C p.F440L Missense 13/19 - 1
4-122760845-C-T c.1312G>A p.D438N Missense 13/19 - 1
4-122760968-G-A c.1306-117C>T - IntronicSNV - 12/18 8
4-122762726-A-T c.1306-1875T>A - IntronicSNV - 12/18 1
4-122764824-A-T c.1305+258T>A - IntronicSNV - 12/18 2
4-122765084-C-A c.1303G>T p.E435* Nonsense 12/19 - 1
4-122765089-T-A c.1298A>T p.D433V Missense 12/19 - 1
4-122765094-G-A c.1293C>T p.S431= Synonymous 12/19 - 1
4-122765098-C-T c.1289G>A p.S430N Missense 12/19 - 1
4-122765101-A-C c.1286T>G p.F429C Missense 12/19 - 1
4-122765110-ACAG-A c.1274_1276del p.A425del InFrameDeletion 12/19 - 1
4-122765116-G-A c.1271C>T p.S424F Missense 12/19 - 1
4-122765116-G-T c.1271C>A p.S424Y Missense 12/19 - 1
4-122765124-A-C c.1263T>G p.D421E Missense 12/19 - 1
4-122765124-A-T c.1263T>A p.D421E Missense 12/19 - 2
4-122765126-C-A c.1261G>T p.D421Y Missense 12/19 - 1
4-122765126-C-T c.1261G>A p.D421N Missense 12/19 - 2
4-122765129-C-T c.1258G>A p.V420M Missense 12/19 - 1
4-122765130-A-G c.1257T>C p.D419= Synonymous 12/19 - 1
4-122765132-C-G c.1255G>C p.D419H Missense 12/19 - 1
4-122765134-A-T c.1253T>A p.L418H Missense 12/19 - 1
4-122765140-T-G c.1247A>C p.D416A Missense 12/19 - 1
4-122765144-T-C c.1243A>G p.I415V Missense 12/19 - 1
4-122765151-A-G c.1236T>C p.D412= Synonymous 12/19 - 4
4-122765152-T-C c.1235A>G p.D412G Missense 12/19 - 9
4-122765153-C-A c.1234G>T p.D412Y Missense 12/19 - 1
4-122765154-A-C c.1233T>G p.S411R Missense 12/19 - 1
4-122765154-A-T c.1233T>A p.S411R Missense 12/19 - 1
4-122765156-T-G c.1231A>C p.S411R Missense 12/19 - 1
4-122766338-AACAT-A c.1230+318_1230+321del - IntronicDeletion - 11/18 1
4-122766349-ACCCC-A c.1230+307_1230+310del - IntronicDeletion - 11/18 1
4-122766357-TCTAC-T c.1230+299_1230+302del - IntronicDeletion - 11/18 1
4-122766363-A-T c.1230+296T>A - IntronicSNV - 11/18 1
4-122766661-G-A c.1228C>T p.Q410* Nonsense 11/19 - 2
4-122766662-T-C c.1227A>G p.I409M Missense 11/19 - 1
4-122766668-G-A c.1221C>T p.V407= Synonymous 11/19 - 1
4-122766668-G-C c.1221C>G p.V407= Synonymous 11/19 - 1
4-122766668-G-T c.1221C>A p.V407= Synonymous 11/19 - 1
4-122766675-T-C c.1214A>G p.D405G Missense 11/19 - 1
4-122766676-C-T c.1213G>A p.D405N Missense 11/19 - 1
4-122766682-C-T c.1207G>A p.A403T Missense 11/19 - 1
4-122766686-C-G c.1203G>C p.Q401H Missense 11/19 - 1
4-122766694-C-T c.1195G>A p.E399K Missense 11/19 - 3
4-122766698-G-C c.1191C>G p.I397M Missense 11/19 - 1
4-122766706-T-C c.1183A>G p.S395G Missense 11/19 - 1
4-122766713-G-A c.1176C>T p.A392= Synonymous 11/19 - 3
4-122766713-G-C c.1176C>G p.A392= Synonymous 11/19 - 1
4-122766713-G-T c.1176C>A p.A392= Synonymous 11/19 - 1
4-122766715-C-T c.1174G>A p.A392T Missense 11/19 - 1
4-122766716-A-T c.1173T>A p.D391E Missense 11/19 - 1
4-122766726-T-C c.1163A>G p.N388S Missense 11/19 - 1
4-122766733-T-C c.1156A>G p.T386A Missense 11/19 - 2
4-122766735-A-C c.1154T>G p.F385C Missense 11/19 - 4
4-122766738-T-C c.1151A>G p.K384R Missense 11/19 - 1
4-122766747-A-G c.1142T>C p.I381T Missense 11/19 - 1
4-122766749-A-C c.1140T>G p.G380= Synonymous 11/19 - 3
4-122766749-A-G c.1140T>C p.G380= Synonymous 11/19 - 4
4-122766749-A-T c.1140T>A p.G380= Synonymous 11/19 - 3
4-122766749-AC-A c.1139del p.G380Vfs*2 Frameshift 11/19 - 1
4-122766751-C-A c.1138G>T p.G380C Missense 11/19 - 3
4-122766753-A-G c.1136T>C p.F379S Missense 11/19 - 1
4-122766754-A-C c.1135T>G p.F379V Missense 11/19 - 1
4-122766755-G-A c.1134C>T p.S378= Synonymous 11/19 - 2
4-122766756-G-A c.1133C>T p.S378F Missense 11/19 - 6
4-122766757-A-T c.1132T>A p.S378T Missense 11/19 - 1
4-122766770-T-C c.1119A>G p.K373= Synonymous 11/19 - 1
4-122766786-T-C c.1103A>G p.Q368R Missense 11/19 - 1
4-122766792-G-A c.1097C>T p.S366F Missense 11/19 - 2
4-122766795-T-A c.1094A>T p.Q365L Missense 11/19 - 1
4-122766799-G-C c.1090C>G p.Q364E Missense 11/19 - 3
4-122766806-C-A c.1083G>T p.E361D Missense 11/19 - 3
4-122766806-C-G c.1083G>C p.E361D Missense 11/19 - 2
4-122766815-C-A c.1074G>T p.Q358H Missense 11/19 - 1
4-122766815-C-G c.1074G>C p.Q358H Missense 11/19 - 1
4-122766818-C-T c.1071G>A p.L357= Synonymous 11/19 - 3
4-122766819-A-G c.1070T>C p.L357S Missense 11/19 - 1
4-122766820-A-G c.1069T>C p.L357= Synonymous 11/19 - 2
4-122766824-C-G c.1065G>C p.K355N Missense 11/19 - 1
4-122766826-T-G c.1063A>C p.K355Q Missense 11/19 - 1
4-122766825-TTA-T c.1062_1063del p.Y354* Frameshift 11/19 - 3
4-122766827-A-AT c.1061dup p.Y354* Nonsense 11/19 - 1
4-122766828-T-A c.1061A>T p.Y354F Missense 11/19 - 1
4-122766828-T-C c.1061A>G p.Y354C Missense 11/19 - 1
4-122766832-G-A c.1057C>T p.Q353* Nonsense 11/19 - 3
4-122766843-A-G c.1046T>C p.L349S Missense 11/19 - 1
4-122766846-T-C c.1043A>G p.E348G Missense 11/19 - 1
4-122768410-G-A c.1037+149C>T - IntronicSNV - 10/18 1
4-122768410-G-C c.1037+149C>G - IntronicSNV - 10/18 1
4-122768530-A-T c.1037+29T>A - IntronicSNV - 10/18 1
4-122768560-G-A c.1036C>T p.R346W Missense 10/19 - 4
4-122768562-A-G c.1034T>C p.L345S Missense 10/19 - 1
4-122768564-G-T c.1032C>A p.S344= Synonymous 10/19 - 1
4-122768565-G-A c.1031C>T p.S344F Missense 10/19 - 2
4-122768568-G-A c.1028C>T p.S343F Missense 10/19 - 2
4-122768568-G-T c.1028C>A p.S343Y Missense 10/19 - 1
4-122768571-A-T c.1025T>A p.I342N Missense 10/19 - 1
4-122768574-T-A c.1022A>T p.K341I Missense 10/19 - 1
4-122768575-T-G c.1021A>C p.K341Q Missense 10/19 - 1
4-122768581-G-A c.1015C>T p.Q339* Nonsense 10/19 - 1
4-122768587-C-T c.1009G>A p.E337K Missense 10/19 - 1
4-122768588-C-A c.1008G>T p.Q336H Missense 10/19 - 2
4-122768588-C-G c.1008G>C p.Q336H Missense 10/19 - 1
4-122768589-T-C c.1007A>G p.Q336R Missense 10/19 - 1
4-122768593-TA-T c.1002del p.N335Ifs*47 Frameshift 10/19 - 3
4-122768596-T-C c.1000A>G p.I334V Missense 10/19 - 1
4-122768599-T-TA c.996_997insT p.K333* Nonsense 10/19 - 1
4-122768602-G-A c.994C>T p.L332= Synonymous 10/19 - 1
4-122768608-C-T c.988G>A p.E330K Missense 10/19 - 1
4-122768610-C-A c.986G>T p.G329V Missense 10/19 - 2
4-122768611-C-A c.985G>T p.G329* Nonsense 10/19 - 2
4-122768614-G-A c.982C>T p.P328S Missense 10/19 - 1
4-122768623-C-A c.973G>T p.E325* Nonsense 10/19 - 1
4-122768623-C-T c.973G>A p.E325K Missense 10/19 - 1
4-122768628-T-C c.968A>G p.H323R Missense 10/19 - 13
4-122768629-G-T c.967C>A p.H323N Missense 10/19 - 1
4-122768632-T-C c.964A>G p.I322V Missense 10/19 - 2
4-122768634-G-T c.962C>A p.P321H Missense 10/19 - 1
4-122768636-C-T c.960G>A p.E320= Synonymous 10/19 - 1
4-122768645-C-A c.951G>T p.L317= Synonymous 10/19 - 1
4-122768645-C-G c.951G>C p.L317= Synonymous 10/19 - 1
4-122768645-C-T c.951G>A p.L317= Synonymous 10/19 - 1
4-122768647-G-A c.949C>T p.L317= Synonymous 10/19 - 1
4-122768648-AC-CT c.947_948delinsAG p.G316E Missense 10/19 - 1
4-122768649-C-A c.947G>T p.G316V Missense 10/19 - 1
4-122768651-T-A c.945A>T p.T315= Synonymous 10/19 - 1
4-122768651-T-C c.945A>G p.T315= Synonymous 10/19 - 1
4-122768651-T-G c.945A>C p.T315= Synonymous 10/19 - 1
4-122768661-C-G c.935G>C p.G312A Missense 10/19 - 1
4-122768755-C-T c.935-94G>A - IntronicSNV - 9/18 1
4-122769967-T-C c.934+32A>G - IntronicSNV - 9/18 7
4-122769964-CTCTT-C c.934+31_934+34del - IntronicDeletion - 9/18 1
4-122769998-C-T c.934+1G>A - IntronicSNV - 9/18 1
4-122770002-A-C c.931T>G p.S311A Missense 9/19 - 1
4-122770010-G-C c.923C>G p.S308C Missense 9/19 - 1
4-122770010-G-T c.923C>A p.S308Y Missense 9/19 - 1
4-122770017-C-A c.916G>T p.V306L Missense 9/19 - 1
4-122770017-C-T c.916G>A p.V306M Missense 9/19 - 1
4-122770018-G-A c.915C>T p.I305= Synonymous 9/19 - 5
4-122770018-G-T c.915C>A p.I305= Synonymous 9/19 - 3
4-122770020-T-C c.913A>G p.I305V Missense 9/19 - 1
4-122770028-T-C c.905A>G p.Y302C Missense 9/19 - 1
4-122770035-CTT-C c.896_897del p.K299Rfs*4 Frameshift 9/19 - 2
4-122770038-T-C c.895A>G p.K299E Missense 9/19 - 1
4-122770040-C-G c.893G>C p.G298A Missense 9/19 - 1
4-122770040-C-T c.893G>A p.G298E Missense 9/19 - 1
4-122770041-C-T c.892G>A p.G298R Missense 9/19 - 4
4-122770044-C-T c.889G>A p.V297I Missense 9/19 - 1
4-122770049-C-T c.884G>A p.G295D Missense 9/19 - 2
4-122770053-C-A c.880G>T p.G294C Missense 9/19 - 1
4-122770053-C-G c.880G>C p.G294R Missense 9/19 - 1
4-122770055-T-G c.878A>C p.Q293P Missense 9/19 - 4
4-122770056-G-A c.877C>T p.Q293* Nonsense 9/19 - 1
4-122770058-A-G c.875T>C p.I292T Missense 9/19 - 1
4-122770059-T-C c.874A>G p.I292V Missense 9/19 - 1
4-122770069-G-A c.864C>T p.S288= Synonymous 9/19 - 2
4-122770070-C-G c.863G>C p.S288T Missense 9/19 - 1
4-122770070-C-T c.863G>A p.S288N Missense 9/19 - 2
4-122770081-C-A c.852G>T p.M284I Missense 9/19 - 2
4-122770081-C-G c.852G>C p.M284I Missense 9/19 - 4
4-122770081-C-T c.852G>A p.M284I Missense 9/19 - 3
4-122770083-T-C c.850A>G p.M284V Missense 9/19 - 1
4-122770408-A-C c.850-325T>G - IntronicSNV - 8/18 2
4-122770408-A-T c.850-325T>A - IntronicSNV - 8/18 2
4-122772161-CA-C c.849+1949del - IntronicDeletion - 8/18 1
4-122774109-A-C c.849+2T>G - IntronicSNV - 8/18 1
4-122774113-G-A c.847C>T p.Q283* Nonsense 8/19 - 1
4-122774113-G-C c.847C>G p.Q283E Missense 8/19 - 1
4-122774116-C-G c.844G>C p.D282H Missense 8/19 - 2
4-122774116-C-T c.844G>A p.D282N Missense 8/19 - 1
4-122774118-A-T c.842T>A p.F281Y Missense 8/19 - 1
4-122774121-C-A c.839G>T p.R280L Missense 8/19 - 3
4-122774122-G-A c.838C>T p.R280* Nonsense 8/19 - 5
4-122774128-C-T c.832G>A p.V278I Missense 8/19 - 1
4-122774137-T-A c.823A>T p.N275Y Missense 8/19 - 1
4-122774139-G-C c.821C>G p.A274G Missense 8/19 - 1
4-122774144-A-G c.816T>C p.D272= Synonymous 8/19 - 1
4-122774156-C-T c.804G>A p.V268= Synonymous 8/19 - 1
4-122774158-C-A c.802G>T p.V268L Missense 8/19 - 1
4-122774167-T-C c.793A>G p.M265V Missense 8/19 - 2
4-122774170-C-T c.790G>A p.G264R Missense 8/19 - 2
4-122774171-G-A c.789C>T p.D263= Synonymous 8/19 - 2
4-122774174-CAT-C c.785_786del p.D262Gfs*8 Frameshift 8/19 - 1
4-122774176-C-T c.784G>A p.D262N Missense 8/19 - 1
4-122774185-C-T c.775G>A p.V259I Missense 8/19 - 1
4-122774186-A-C c.774T>G p.L258= Synonymous 8/19 - 1
4-122774186-A-G c.774T>C p.L258= Synonymous 8/19 - 1
4-122774186-A-T c.774T>A p.L258= Synonymous 8/19 - 1
4-122774187-A-G c.773T>C p.L258P Missense 8/19 - 1
4-122774188-G-A c.772C>T p.L258F Missense 8/19 - 1
4-122774189-T-A c.771A>T p.L257F Missense 8/19 - 1
4-122774189-T-G c.771A>C p.L257F Missense 8/19 - 1
4-122774194-C-CA c.765_766insT p.D256* Nonsense 8/19 - 1
4-122774194-C-G c.766G>C p.D256H Missense 8/19 - 1
4-122774197-T-A c.763A>T p.K255* Nonsense 8/19 - 1
4-122774200-C-G c.760G>C p.V254L Missense 8/19 - 1
4-122774201-C-T c.759G>A p.G253= Synonymous 8/19 - 1
4-122774202-C-A c.758G>T p.G253V Missense 8/19 - 1
4-122774202-C-T c.758G>A p.G253E Missense 8/19 - 4
4-122774210-CAC-GAT c.748_750delinsATC p.V250I Missense 8/19 - 1
4-122774214-A-G c.746T>C p.I249T Missense 8/19 - 1
4-122774218-C-T c.742G>A p.D248N Missense 8/19 - 1
4-122774222-G-A c.738C>T p.S246= Synonymous 8/19 - 2
4-122774223-C-T c.737G>A p.S246N Missense 8/19 - 1
4-122774226-T-A c.734A>T p.D245V Missense 8/19 - 1
4-122774231-A-G c.729T>C p.C243= Synonymous 8/19 - 1
4-122774232-C-A c.728G>T p.C243F Missense 8/19 - 2
4-122774232-C-T c.728G>A p.C243Y Missense 8/19 - 9
4-122774235-A-G c.725T>C p.L242S Missense 8/19 - 3
4-122774239-T-C c.721A>G p.I241V Missense 8/19 - 1
4-122774241-C-T c.719G>A p.G240D Missense 8/19 - 1
4-122774917-G-A c.719-676C>T - IntronicSNV - 7/18 1
4-122775858-C-T c.718+1G>A - IntronicSNV - 7/18 1
4-122775859-C-T c.718G>A p.G240S Missense 7/19 - 1
4-122775861-C-T c.716G>A p.G239E Missense 7/19 - 2
4-122775861-CCTCT-C c.712_715del p.R238Efs*59 Frameshift 7/19 - 5
4-122775864-CTCTT-C c.709_712del p.K237Efs*60 Frameshift 7/19 - 1
4-122775866-C-T c.711G>A p.K237= Synonymous 7/19 - 2
4-122775874-C-A c.703G>T p.E235* Nonsense 7/19 - 1
4-122775874-C-G c.703G>C p.E235Q Missense 7/19 - 1
4-122775885-T-C c.692A>G p.E231G Missense 7/19 - 1
4-122775889-A-G c.688T>C p.W230R Missense 7/19 - 1
4-122775889-A-T c.688T>A p.W230R Missense 7/19 - 1
4-122775894-C-A c.683G>T p.R228L Missense 7/19 - 1
4-122775894-C-T c.683G>A p.R228H Missense 7/19 - 3
4-122775913-T-C c.664A>G p.T222A Missense 7/19 - 1
4-122775916-T-A c.661A>T p.I221F Missense 7/19 - 1
4-122775917-C-A c.660G>T p.Q220H Missense 7/19 - 1
4-122775917-C-G c.660G>C p.Q220H Missense 7/19 - 1
4-122775921-A-G c.656T>C p.I219T Missense 7/19 - 1
4-122775927-G-C c.650C>G p.A217G Missense 7/19 - 1
4-122775933-T-G c.644A>C p.K215T Missense 7/19 - 1
4-122775936-C-A c.641G>T p.G214V Missense 7/19 - 1
4-122775937-C-G c.640G>C p.G214R Missense 7/19 - 2
4-122775937-C-T c.640G>A p.G214R Missense 7/19 - 2
4-122775942-G-C c.635C>G p.S212* Nonsense 7/19 - 2
4-122775942-G-T c.635C>A p.S212* Nonsense 7/19 - 1
4-122775945-G-A c.632C>T p.T211I Missense 7/19 - 11
4-122775948-C-A c.629G>T p.G210V Missense 7/19 - 1
4-122775954-A-C c.623T>G p.L208W Missense 7/19 - 1
4-122775958-G-C c.619C>G p.L207V Missense 7/19 - 1
4-122775960-T-A c.617A>T p.D206V Missense 7/19 - 1
4-122775966-C-G c.611G>C p.G204A Missense 7/19 - 3
4-122776067-A-G c.602-92T>C - IntronicSNV - 6/18 4
4-122776455-C-T c.601+189G>A - IntronicSNV - 6/18 1
4-122776511-C-T c.601+133G>A - IntronicSNV - 6/18 1
4-122776529-C-A c.601+115G>T - IntronicSNV - 6/18 1
4-122776643-C-T c.601+1G>A - IntronicSNV - 6/18 1
4-122776644-C-T c.601G>A p.G201S Missense 6/19 - 2
4-122776651-T-A c.594A>T p.G198= Synonymous 6/19 - 1
4-122776651-T-C c.594A>G p.G198= Synonymous 6/19 - 1
4-122776651-T-G c.594A>C p.G198= Synonymous 6/19 - 1
4-122776652-C-A c.593G>T p.G198V Missense 6/19 - 7
4-122776652-C-T c.593G>A p.G198E Missense 6/19 - 1
4-122776663-T-A c.582A>T p.A194= Synonymous 6/19 - 1
4-122776663-T-C c.582A>G p.A194= Synonymous 6/19 - 1
4-122776663-T-G c.582A>C p.A194= Synonymous 6/19 - 1
4-122776662-GTGC-G c.580_582del p.A194del InFrameDeletion 6/19 - 3
4-122776664-G-C c.581C>G p.A194G Missense 6/19 - 1
4-122776665-C-T c.580G>A p.A194T Missense 6/19 - 3
4-122776666-T-TA c.578dup p.L193Ffs*10 Frameshift 6/19 - 1
4-122776676-G-A c.569C>T p.P190L Missense 6/19 - 1
4-122776676-G-C c.569C>G p.P190R Missense 6/19 - 1
4-122776679-G-T c.566C>A p.P189H Missense 6/19 - 1
4-122776680-G-A c.565C>T p.P189S Missense 6/19 - 1
4-122776681-TCC-GCT c.562_564delinsAGC p.G188S Missense 6/19 - 1
4-122776686-G-A c.559C>T p.P187S Missense 6/19 - 1
4-122776690-T-A c.555A>T p.E185D Missense 6/19 - 1
4-122776690-TTC-AAA c.553_555delinsTTT p.E185F Missense 6/19 - 1
4-122776702-AC-A c.543del p.M181Ifs*13 Frameshift 6/19 - 1
4-122776704-T-G c.541A>C p.M181L Missense 6/19 - 1
4-122776705-C-T c.540G>A p.V180= Synonymous 6/19 - 1
4-122776708-A-G c.537T>C p.D179= Synonymous 6/19 - 1
4-122776708-CA-C c.537del p.D179Efs*2 Frameshift 6/19 - 1
4-122776710-C-CA c.534dup p.D179* Nonsense 6/19 - 1
4-122776712-G-A c.533C>T p.S178F Missense 6/19 - 1
4-122776859-C-A c.529-143G>T - IntronicSNV - 5/18 3
4-122776859-C-T c.529-143G>A - IntronicSNV - 5/18 3
4-122776933-G-A c.529-217C>T - IntronicSNV - 5/18 2
4-122779974-C-G c.528+173G>C - IntronicSNV - 5/18 1
4-122780146-C-T c.528+1G>A - IntronicSNV - 5/18 1
4-122780148-T-C c.527A>G p.Q176R Missense 5/19 - 1
4-122780149-G-T c.526C>A p.Q176K Missense 5/19 - 1
4-122780150-T-G c.525A>C p.L175F Missense 5/19 - 1
4-122780152-A-C c.523T>G p.L175V Missense 5/19 - 1
4-122780155-C-T c.520G>A p.V174I Missense 5/19 - 4
4-122780156-TCT-ACA c.517_519delinsTGT p.R173C Missense 5/19 - 2
4-122780161-G-A c.514C>T p.L172F Missense 5/19 - 1
4-122780167-T-C c.508A>G p.R170G Missense 5/19 - 2
4-122780172-T-C c.503A>G p.Q168R Missense 5/19 - 1
4-122780174-G-A c.501C>T p.C167= Synonymous 5/19 - 2
4-122780174-G-GCTCATA c.500_501insTATGAG p.C167_Q168insMS InFrameInsertion 5/19 - 1
4-122780190-G-A c.485C>T p.T162I Missense 5/19 - 1
4-122780191-T-C c.484A>G p.T162A Missense 5/19 - 1
4-122780196-C-A c.479G>T p.R160L Missense 5/19 - 1
4-122780197-G-A c.478C>T p.R160C Missense 5/19 - 8
4-122780204-TCT-ACA c.469_471delinsTGT p.R157C Missense 5/19 - 1
4-122780209-C-CA c.465_466insT p.E156* Nonsense 5/19 - 1
4-122780212-C-T c.463G>A p.V155M Missense 5/19 - 1
4-122780222-G-A c.453C>T p.I151= Synonymous 5/19 - 1
4-122780222-G-T c.453C>A p.I151= Synonymous 5/19 - 1
4-122780234-G-A c.441C>T p.I147= Synonymous 5/19 - 1
4-122780234-G-C c.441C>G p.I147M Missense 5/19 - 4
4-122780234-G-T c.441C>A p.I147= Synonymous 5/19 - 1
4-122780242-C-G c.433G>C p.D145H Missense 5/19 - 3
4-122780244-C-A c.431G>T p.G144V Missense 5/19 - 1
4-122780247-G-A c.428C>T p.S143F Missense 5/19 - 1
4-122780249-A-T c.426T>A p.L142= Synonymous 5/19 - 2
4-122780251-G-C c.424C>G p.L142V Missense 5/19 - 1
4-122780254-A-G c.421T>C p.Y141H Missense 5/19 - 1
4-122780257-A-G c.418T>C p.Y140H Missense 5/19 - 2
4-122780265-T-C c.410A>G p.D137G Missense 5/19 - 4
4-122780266-C-G c.409G>C p.D137H Missense 5/19 - 2
4-122780267-T-C c.408A>G p.K136= Synonymous 5/19 - 1
4-122780277-C-T c.398G>A p.C133Y Missense 5/19 - 2
4-122780281-A-G c.394T>C p.Y132H Missense 5/19 - 1
4-122780282-A-C c.393T>G p.H131Q Missense 5/19 - 1
4-122780282-A-T c.393T>A p.H131Q Missense 5/19 - 1
4-122780284-G-A c.391C>T p.H131Y Missense 5/19 - 2
4-122780285-GGT-G c.389_390del p.N130Tfs*4 Frameshift 5/19 - 3
4-122780289-T-C c.386A>G p.Y129C Missense 5/19 - 1
4-122780297-A-C c.378T>G p.S126R Missense 5/19 - 1
4-122780297-A-T c.378T>A p.S126R Missense 5/19 - 1
4-122780299-T-G c.376A>C p.S126R Missense 5/19 - 1
4-122780299-T-C c.376A>G p.S126G Missense 5/19 - 1
4-122780306-G-A c.369C>T p.L123= Synonymous 5/19 - 1
4-122780306-G-C c.369C>G p.L123= Synonymous 5/19 - 1
4-122780306-G-T c.369C>A p.L123= Synonymous 5/19 - 1
4-122780309-A-G c.366T>C p.F122= Synonymous 5/19 - 1
4-122780312-GAG-CAT c.361_363delinsATG p.L121M Missense 5/19 - 1
4-122780313-A-T c.362T>A p.L121H Missense 5/19 - 1
4-122780317-C-A c.358G>T p.D120Y Missense 5/19 - 2
4-122780321-GC-CT c.353_354delinsAG p.G118E Missense 5/19 - 1
4-122780322-C-A c.353G>T p.G118V Missense 5/19 - 1
4-122780322-C-T c.353G>A p.G118D Missense 5/19 - 1
4-122780330-G-C c.345C>G p.H115Q Missense 5/19 - 1
4-122781263-A-C c.342-930T>G - IntronicSNV - 4/18 1
4-122782639-A-G c.341+20T>C - IntronicSNV - 4/18 1
4-122782660-T-C c.340A>G p.M114V Missense 4/19 - 1
4-122782664-T-C c.336A>G p.K112= Synonymous 4/19 - 1
4-122782665-T-G c.335A>C p.K112T Missense 4/19 - 1
4-122782666-T-C c.334A>G p.K112E Missense 4/19 - 1
4-122782681-G-C c.319C>G p.L107V Missense 4/19 - 1
4-122782681-G-T c.319C>A p.L107I Missense 4/19 - 3
4-122782682-G-C c.318C>G p.N106K Missense 4/19 - 1
4-122782688-T-G c.312A>C p.E104D Missense 4/19 - 1
4-122782690-C-T c.310G>A p.E104K Missense 4/19 - 1
4-122782691-A-T c.309T>A p.F103L Missense 4/19 - 1
4-122782694-G-A c.306C>T p.S102= Synonymous 4/19 - 1
4-122782694-G-C c.306C>G p.S102= Synonymous 4/19 - 1
4-122782694-G-T c.306C>A p.S102= Synonymous 4/19 - 1
4-122782695-G-A c.305C>T p.S102F Missense 4/19 - 1
4-122782696-A-T c.304T>A p.S102T Missense 4/19 - 3
4-122782697-G-A c.303C>T p.L101= Synonymous 4/19 - 1
4-122782697-G-C c.303C>G p.L101= Synonymous 4/19 - 1
4-122782697-G-T c.303C>A p.L101= Synonymous 4/19 - 1
4-122782698-A-G c.302T>C p.L101P Missense 4/19 - 1
4-122782698-A-T c.302T>A p.L101H Missense 4/19 - 2
4-122782700-G-C c.300C>G p.F100L Missense 4/19 - 1
4-122782703-CTG-GTC c.295_297delinsGAC p.Q99D Missense 4/19 - 1
4-122782704-T-A c.296A>T p.Q99L Missense 4/19 - 2
4-122782707-T-C c.293A>G p.K98R Missense 4/19 - 1
4-122782711-C-G c.289G>C p.G97R Missense 4/19 - 1
4-122782711-C-T c.289G>A p.G97R Missense 4/19 - 1
4-122782710-CCT-C c.288_289del p.G97Kfs*7 Frameshift 4/19 - 1
4-122782715-T-A c.285A>T p.K95N Missense 4/19 - 1
4-122782715-T-G c.285A>C p.K95N Missense 4/19 - 1
4-122782717-T-G c.283A>C p.K95Q Missense 4/19 - 1
4-122782719-G-A c.281C>T p.T94I Missense 4/19 - 1
4-122782720-T-A c.280A>T p.T94S Missense 4/19 - 1
4-122782727-T-A c.273A>T p.R91S Missense 4/19 - 1
4-122782727-T-C c.273A>G p.R91= Synonymous 4/19 - 1
4-122782727-T-G c.273A>C p.R91S Missense 4/19 - 1
4-122782729-T-G c.271A>C p.R91= Synonymous 4/19 - 1
4-122782728-C-T c.272G>A p.R91K Missense 4/19 - 1
4-122782730-A-C c.270T>G p.I90M Missense 4/19 - 1
4-122782732-T-A c.268A>T p.I90F Missense 4/19 - 1
4-122782737-GA-TT c.262_263delinsAA p.S88N Missense 4/19 - 1
4-122782737-G-T c.263C>A p.S88Y Missense 4/19 - 2
4-122782738-A-C c.262T>G p.S88A Missense 4/19 - 1
4-122782746-G-A c.254C>T p.A85V Missense 4/19 - 2
4-122782752-A-C c.248T>G p.F83C Missense 4/19 - 1
4-122782754-A-C c.246T>G p.I82M Missense 4/19 - 1
4-122782754-A-G c.246T>C p.I82= Synonymous 4/19 - 2
4-122782754-A-T c.246T>A p.I82= Synonymous 4/19 - 1
4-122782755-AT-GC c.244_245delinsGC p.I82A Missense 4/19 - 1
4-122782763-C-T c.237G>A p.Q79= Synonymous 4/19 - 1
4-122782764-T-C c.236A>G p.Q79R Missense 4/19 - 1
4-122782765-G-A c.235C>T p.Q79* Nonsense 4/19 - 1
4-122782768-G-A c.232C>T p.P78S Missense 4/19 - 5
4-122782771-T-G c.229A>C p.T77P Missense 4/19 - 1
4-122782773-T-C c.227A>G p.N76S Missense 4/19 - 2
4-122782775-G-A c.225C>T p.I75= Synonymous 4/19 - 1
4-122782775-G-T c.225C>A p.I75= Synonymous 4/19 - 1
4-122782782-C-A c.218G>T p.G73V Missense 4/19 - 1
4-122782782-C-T c.218G>A p.G73E Missense 4/19 - 1
4-122782785-C-T c.215G>A p.G72E Missense 4/19 - 1
4-122782786-C-G c.214G>C p.G72R Missense 4/19 - 3
4-122782786-C-T c.214G>A p.G72R Missense 4/19 - 3
4-122782787-C-A c.213G>T p.L71= Synonymous 4/19 - 1
4-122782787-C-G c.213G>C p.L71= Synonymous 4/19 - 1
4-122782787-C-T c.213G>A p.L71= Synonymous 4/19 - 1
4-122782789-G-A c.211C>T p.L71= Synonymous 4/19 - 1
4-122782789-G-C c.211C>G p.L71V Missense 4/19 - 1
4-122782792-C-T c.208G>A p.E70K Missense 4/19 - 2
4-122782797-C-T c.203G>A p.R68K Missense 4/19 - 1
4-122782798-T-A c.202A>T p.R68W Missense 4/19 - 5
4-122782802-A-C c.198T>G p.I66M Missense 4/19 - 2
4-122782803-A-G c.197T>C p.I66T Missense 4/19 - 1
4-122782804-T-A c.196A>T p.I66F Missense 4/19 - 1
4-122782808-C-A c.192G>T p.P64= Synonymous 4/19 - 1
4-122782808-C-G c.192G>C p.P64= Synonymous 4/19 - 1
4-122782808-C-T c.192G>A p.P64= Synonymous 4/19 - 1
4-122782813-C-G c.187G>C p.G63R Missense 4/19 - 2
4-122782813-C-T c.187G>A p.G63R Missense 4/19 - 2
4-122782814-G-A c.186C>T p.P62= Synonymous 4/19 - 3
4-122782814-G-C c.186C>G p.P62= Synonymous 4/19 - 1
4-122782814-G-T c.186C>A p.P62= Synonymous 4/19 - 1
4-122782819-A-T c.181T>A p.L61I Missense 4/19 - 3
4-122782822-T-C c.178A>G p.T60A Missense 4/19 - 1
4-122782823-C-A c.177G>T p.K59N Missense 4/19 - 3
4-122782823-C-G c.177G>C p.K59N Missense 4/19 - 1
4-122782829-C-A c.171G>T p.V57= Synonymous 4/19 - 3
4-122782829-C-G c.171G>C p.V57= Synonymous 4/19 - 1
4-122782829-C-T c.171G>A p.V57= Synonymous 4/19 - 1
4-122782830-A-G c.170T>C p.V57A Missense 4/19 - 1
4-122782833-G-A c.167C>T p.A56V Missense 4/19 - 1
4-122782879-G-A c.166-45C>T - IntronicSNV - 3/18 5
4-122784227-G-A c.165+145C>T - IntronicSNV - 3/18 1
4-122784241-C-T c.165+131G>A - IntronicSNV - 3/18 1
4-122784376-G-A c.161C>T p.A54V Missense 3/19 - 1
4-122784376-GC-AG c.160_161delinsCT p.A54L Missense 3/19 - 1
4-122784377-GC-G c.160del p.A54Qfs*97 Frameshift 3/19 - 2
4-122784382-C-T c.155G>A p.G52E Missense 3/19 - 1
4-122784390-C-A c.147G>T p.M49I Missense 3/19 - 1
4-122784390-C-G c.147G>C p.M49I Missense 3/19 - 1
4-122784390-C-T c.147G>A p.M49I Missense 3/19 - 1
4-122784393-G-A c.144C>T p.G48= Synonymous 3/19 - 1
4-122784393-G-C c.144C>G p.G48= Synonymous 3/19 - 1
4-122784393-G-T c.144C>A p.G48= Synonymous 3/19 - 1
4-122784399-G-A c.138C>T p.C46= Synonymous 3/19 - 1
4-122784410-C-T c.127G>A p.V43I Missense 3/19 - 1
4-122784412-C-T c.125G>A p.G42E Missense 3/19 - 1
4-122784413-C-G c.124G>C p.G42R Missense 3/19 - 1
4-122784413-C-T c.124G>A p.G42R Missense 3/19 - 1
4-122784416-C-CTCTACTAAAAATACAAAAAA c.120_121insTTTTTTGTATTTTTAGTAGA p.D41Ffs*10 Frameshift 3/19 - 1
4-122784419-G-A c.118C>T p.H40Y Missense 3/19 - 1
4-122784422-C-A c.115G>T p.D39Y Missense 3/19 - 3
4-122784427-A-G c.110T>C p.I37T Missense 3/19 - 1
4-122784431-C-A c.106G>T p.V36F Missense 3/19 - 2
4-122786471-G-A c.103-2037C>T - IntronicSNV - 2/18 1
4-122788696-TAAGA-T c.102+436_102+439del - IntronicDeletion - 2/18 1
4-122788744-AAAC-A c.102+389_102+391del - IntronicDeletion - 2/18 1
4-122788882-C-T c.102+254G>A - IntronicSNV - 2/18 2
4-122789075-A-T c.102+61T>A - IntronicSNV - 2/18 4
4-122789132-G-A c.102+4C>T - IntronicSNV - 2/18 1
4-122789143-G-A c.95C>T p.T32I Missense 2/19 - 1
4-122789146-G-T c.92C>A p.A31D Missense 2/19 - 1
4-122789150-T-A c.88A>T p.R30* Nonsense 2/19 - 1
4-122789149-CTG-C c.87_88del p.H29Qfs*12 Frameshift 2/19 - 2
4-122789154-T-G c.84A>C p.R28S Missense 2/19 - 1
4-122789155-C-T c.83G>A p.R28K Missense 2/19 - 3
4-122789158-G-A c.80C>T p.S27L Missense 2/19 - 1
4-122789161-GC-CA c.76_77delinsTG p.A26C Missense 2/19 - 1
4-122789162-C-T c.76G>A p.A26T Missense 2/19 - 1
4-122789166-A-G c.72T>C p.I24= Synonymous 2/19 - 1
4-122789166-A-T c.72T>A p.I24= Synonymous 2/19 - 1
4-122789170-A-T c.68T>A p.L23Q Missense 2/19 - 1
4-122789179-G-A c.59C>T p.T20I Missense 2/19 - 1
4-122789179-G-C c.59C>G p.T20S Missense 2/19 - 1
4-122789181-C-T c.57G>A p.K19= Synonymous 2/19 - 1
4-122789184-C-A c.54G>T p.Q18H Missense 2/19 - 1
4-122789184-C-G c.54G>C p.Q18H Missense 2/19 - 1
4-122789188-G-A c.50C>T p.S17F Missense 2/19 - 1
4-122789193-T-C c.45A>G p.V15= Synonymous 2/19 - 1
4-122789195-C-A c.43G>T p.V15L Missense 2/19 - 4
4-122789195-C-G c.43G>C p.V15L Missense 2/19 - 2
4-122789197-C-G c.41G>C p.G14A Missense 2/19 - 2
4-122791435-G-A c.34C>T p.Q12* Nonsense 1/19 - 1
4-122791435-G-C c.34C>G p.Q12E Missense 1/19 - 1
4-122791440-T-C c.29A>G p.Y10C Missense 1/19 - 1
4-122791449-C-A c.20G>T p.R7L Missense 1/19 - 1
4-122791450-G-A c.19C>T p.R7* Nonsense 1/19 - 1
4-122791456-A-C c.13T>G p.L5V Missense 1/19 - 1
4-122791463-A-G c.6T>C p.D2= Synonymous 1/19 - 2
4-122791465-C-A c.4G>T p.D2Y Missense 1/19 - 1
4-122791466-C-A c.3G>T p.M1? Missense 1/19 - 1
4-122791466-C-G c.3G>C p.M1? Missense 1/19 - 1
4-122791466-C-T c.3G>A p.M1? Missense 1/19 - 1
4-122791590-A-T c.-122T>A - 5-UTRSNV 1/19 - 1
4-122791601-G-C c.-133C>G - 5-UTRSNV 1/19 - 14