ABCB9

ABCB9 ATP binding cassette subfamily B member 9

Annotation transcript: NM_019625.4

616 unique variant annotations were identified in 326 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
12-123413597-TGGCAAAGCCAGATCCTG-T c.*844_*860del - 3-UTRDeletion 12/12 - 1
12-123414349-T-C c.*109A>G - 3-UTRSNV 12/12 - 6
12-123414476-G-A c.2283C>T p.N761= Synonymous 12/12 - 1
12-123414478-T-A c.2281A>T p.N761Y Missense 12/12 - 1
12-123414484-C-T c.2275G>A p.V759I Missense 12/12 - 1
12-123414485-AGGCTCGTTGT-A c.2264_2273del p.H755Lfs*2 Frameshift 12/12 - 1
12-123414490-C-T c.2269G>A p.E757K Missense 12/12 - 1
12-123414501-G-A c.2258C>T p.A753V Missense 12/12 - 1
12-123414504-G-C c.2255C>G p.T752R Missense 12/12 - 1
12-123414514-C-T c.2245G>A p.A749T UnclassifiedSNV 12/12 - 1
12-123414514-GC-G c.2245del p.A749Qfs*11 Frameshift 12/12 - 1
12-123414516-G-A c.2243C>T p.A748V Missense 12/12 - 1
12-123414531-A-C c.2228T>G p.L743R Missense 12/12 - 1
12-123414544-G-A c.2215C>T p.Q739* Nonsense 12/12 - 1
12-123414563-G-A c.2196C>T p.G732= Synonymous 12/12 - 1
12-123414580-G-A c.2179C>T p.L727= Synonymous 12/12 - 1
12-123414586-G-A c.2173C>T p.Q725* Nonsense 12/12 - 2
12-123414591-G-A c.2168C>T p.T723I Missense 12/12 - 3
12-123414591-G-C c.2168C>G p.T723S Missense 12/12 - 1
12-123414592-T-A c.2167A>T p.T723S Missense 12/12 - 1
12-123414592-T-C c.2167A>G p.T723A Missense 12/12 - 1
12-123414604-C-T c.2155G>A p.V719M Missense 12/12 - 1
12-123414608-G-A c.2151C>T p.R717= Synonymous 12/12 - 1
12-123414609-C-T c.2150G>A p.R717H Missense 12/12 - 2
12-123414611-G-A c.2148C>T p.G716= Synonymous 12/12 - 1
12-123414611-G-C c.2148C>G p.G716= Synonymous 12/12 - 1
12-123414611-G-T c.2148C>A p.G716= Synonymous 12/12 - 1
12-123414612-C-G c.2147G>C p.G716A Missense 12/12 - 1
12-123414616-T-C c.2143A>G p.K715E Missense 12/12 - 1
12-123414618-T-G c.2141A>C p.D714A Missense 12/12 - 1
12-123414623-C-A c.2136G>T p.V712= Synonymous 12/12 - 1
12-123414623-C-G c.2136G>C p.V712= Synonymous 12/12 - 1
12-123414623-C-T c.2136G>A p.V712= Synonymous 12/12 - 1
12-123414625-C-A c.2134G>T p.V712L Missense 12/12 - 2
12-123414625-C-G c.2134G>C p.V712L Missense 12/12 - 1
12-123414638-C-T c.2121G>A p.A707= Synonymous 12/12 - 1
12-123414646-C-T c.2113G>A p.E705K Missense 12/12 - 1
12-123414649-C-T c.2110G>A p.V704M Missense 12/12 - 1
12-123414661-G-A c.2098C>T p.R700W Missense 12/12 - 2
12-123414663-T-A c.2096A>T p.H699L Missense 12/12 - 1
12-123414663-TG-GC c.2095_2096delinsGC p.H699A Missense 12/12 - 1
12-123414665-C-A c.2094G>T p.A698= Synonymous 12/12 - 3
12-123414665-C-G c.2094G>C p.A698= Synonymous 12/12 - 2
12-123414665-C-T c.2094G>A p.A698= Synonymous 12/12 - 2
12-123414668-G-A c.2091C>T p.I697= Synonymous 12/12 - 1
12-123414668-G-T c.2091C>A p.I697= Synonymous 12/12 - 1
12-123414673-T-C c.2086A>G p.I696V Missense 12/12 - 4
12-123414716-G-A c.2043C>T p.I681= Synonymous 12/12 - 1
12-123414754-G-A c.2041-36C>T - IntronicSNV - 11/11 1
12-123414754-G-T c.2041-36C>A - IntronicSNV - 11/11 1
12-123414957-T-C c.2041-239A>G - IntronicSNV - 11/11 1
12-123416739-C-A c.2040G>T p.L680= Synonymous 11/12 - 1
12-123416740-A-C c.2039T>G p.L680R Missense 11/12 - 1
12-123416746-T-G c.2033A>C p.E678A Missense 11/12 - 1
12-123416749-C-T c.2030G>A p.S677N Missense 11/12 - 1
12-123416765-C-T c.2014G>A p.A672T Missense 11/12 - 1
12-123416766-G-A c.2013C>T p.S671= Synonymous 11/12 - 1
12-123416766-G-C c.2013C>G p.S671R Missense 11/12 - 1
12-123416766-G-T c.2013C>A p.S671R Missense 11/12 - 1
12-123416768-T-G c.2011A>C p.S671R Missense 11/12 - 1
12-123416774-C-T c.2005G>A p.A669T Missense 11/12 - 1
12-123416794-G-A c.1985C>T p.P662L Missense 11/12 - 1
12-123416795-G-A c.1984C>T p.P662S Missense 11/12 - 1
12-123416796-G-A c.1983C>T p.P661= Synonymous 11/12 - 2
12-123416804-G-A c.1975C>T p.R659W Missense 11/12 - 5
12-123416815-C-G c.1964G>C p.R655P Missense 11/12 - 1
12-123416816-G-A c.1963C>T p.R655W Missense 11/12 - 1
12-123416818-G-T c.1961C>A p.A654D Missense 11/12 - 1
12-123416831-G-A c.1948C>T p.R650W Missense 11/12 - 1
12-123416841-G-A c.1938C>T p.G646= Synonymous 11/12 - 1
12-123416842-C-A c.1937G>T p.G646V Missense 11/12 - 1
12-123416846-C-A c.1933G>T p.G645C Missense 11/12 - 1
12-123416858-C-T c.1921G>A p.A641T Missense 11/12 - 1
12-123416859-G-A c.1920C>T p.G640= Synonymous 11/12 - 3
12-123416859-G-C c.1920C>G p.G640= Synonymous 11/12 - 1
12-123416859-G-T c.1920C>A p.G640= Synonymous 11/12 - 1
12-123416861-C-G c.1918G>C p.G640R Missense 11/12 - 1
12-123416867-C-CA c.1911_1912insT p.E638* Nonsense 11/12 - 1
12-123416871-T-A c.1908A>T p.T636= Synonymous 11/12 - 1
12-123416871-T-C c.1908A>G p.T636= Synonymous 11/12 - 1
12-123416871-T-G c.1908A>C p.T636= Synonymous 11/12 - 1
12-123419827-T-C c.1895A>G p.Y632C Missense 10/12 - 1
12-123419844-C-A c.1878G>T p.M626I Missense 10/12 - 1
12-123419844-C-G c.1878G>C p.M626I Missense 10/12 - 1
12-123419844-C-T c.1878G>A p.M626I Missense 10/12 - 1
12-123419855-C-T c.1867G>A p.G623S Missense 10/12 - 1
12-123419860-G-C c.1862C>G p.A621G Missense 10/12 - 1
12-123419863-T-C c.1859A>G p.N620S Missense 10/12 - 3
12-123419868-C-T c.1854G>A p.K618= Synonymous 10/12 - 1
12-123419882-C-T c.1840G>A p.E614K Missense 10/12 - 1
12-123419895-G-A c.1827C>T p.F609= Synonymous 10/12 - 4
12-123419901-C-A c.1821G>T p.V607= Synonymous 10/12 - 2
12-123419901-C-G c.1821G>C p.V607= Synonymous 10/12 - 1
12-123419901-C-T c.1821G>A p.V607= Synonymous 10/12 - 1
12-123419905-G-A c.1817C>T p.T606I Missense 10/12 - 3
12-123419906-T-C c.1816A>G p.T606A Missense 10/12 - 1
12-123419914-C-A c.1808G>T p.G603V Missense 10/12 - 1
12-123419917-T-A c.1805A>T p.Y602F Missense 10/12 - 1
12-123419919-G-T c.1803C>A p.S601= Synonymous 10/12 - 1
12-123419920-G-A c.1802C>T p.S601F Missense 10/12 - 2
12-123419931-C-A c.1791G>T p.T597= Synonymous 10/12 - 1
12-123419931-C-G c.1791G>C p.T597= Synonymous 10/12 - 1
12-123419931-C-T c.1791G>A p.T597= Synonymous 10/12 - 1
12-123419937-G-A c.1785C>T p.S595= Synonymous 10/12 - 2
12-123419937-G-T c.1785C>A p.S595= Synonymous 10/12 - 2
12-123419938-G-A c.1784C>T p.S595F Missense 10/12 - 3
12-123419942-G-A c.1780C>T p.R594C Missense 10/12 - 1
12-123419945-C-T c.1777G>A p.A593T Missense 10/12 - 3
12-123419946-G-C c.1776C>G p.F592L Missense 10/12 - 1
12-123419946-G-T c.1776C>A p.F592L Missense 10/12 - 1
12-123419948-A-G c.1774T>C p.F592L Missense 10/12 - 1
12-123419951-G-A c.1771C>T p.L591= Synonymous 10/12 - 1
12-123419954-AC-A c.1768del p.V590Cfs*91 Frameshift 10/12 - 1
12-123419954-C-T c.1768G>A p.V590M Missense 10/12 - 1
12-123419955-G-A c.1767C>T p.P589= Synonymous 10/12 - 1
12-123419955-G-C c.1767C>G p.P589= Synonymous 10/12 - 1
12-123419955-G-T c.1767C>A p.P589= Synonymous 10/12 - 1
12-123419960-C-A c.1762G>T p.E588* Nonsense 10/12 - 1
12-123419970-C-A c.1752G>T p.L584= Synonymous 10/12 - 3
12-123419970-C-G c.1752G>C p.L584= Synonymous 10/12 - 2
12-123419970-C-T c.1752G>A p.L584= Synonymous 10/12 - 2
12-123419972-G-A c.1750C>T p.L584= Synonymous 10/12 - 3
12-123423385-T-A c.1743+1273A>T - IntronicSNV - 9/11 1
12-123424071-A-G c.1743+587T>C - IntronicSNV - 9/11 3
12-123424656-A-G c.1743+2T>C - IntronicSNV - 9/11 1
12-123424662-C-T c.1739G>A p.R580H Missense 9/12 - 1
12-123424663-G-A c.1738C>T p.R580C Missense 9/12 - 3
12-123424666-G-T c.1735C>A p.H579N Missense 9/12 - 1
12-123424670-G-C c.1731C>G p.Y577* Nonsense 9/12 - 1
12-123424670-G-T c.1731C>A p.Y577* Nonsense 9/12 - 1
12-123424673-C-A c.1728G>T p.K576N Missense 9/12 - 1
12-123424682-G-A c.1719C>T p.Y573= Synonymous 9/12 - 1
12-123424687-C-T c.1714G>A p.A572T Missense 9/12 - 1
12-123424696-G-A c.1705C>T p.P569S Missense 9/12 - 1
12-123424702-C-T c.1699G>A p.G567S Missense 9/12 - 1
12-123424703-G-C c.1698C>G p.D566E Missense 9/12 - 1
12-123424703-G-T c.1698C>A p.D566E Missense 9/12 - 1
12-123424704-T-C c.1697A>G p.D566G Missense 9/12 - 1
12-123424718-GC-G c.1682del p.G561Afs*21 Frameshift 9/12 - 1
12-123424718-G-GC c.1682dup p.R562Pfs*38 Frameshift 9/12 - 1
12-123424726-C-A c.1675G>T p.E559* Nonsense 9/12 - 1
12-123424727-C-T c.1674G>A p.L558= Synonymous 9/12 - 1
12-123424731-G-A c.1670C>T p.P557L Missense 9/12 - 1
12-123424731-G-T c.1670C>A p.P557H Missense 9/12 - 3
12-123424732-G-A c.1669C>T p.P557S Missense 9/12 - 1
12-123424728-AG-A c.1672del p.L558Wfs*24 Frameshift 9/12 - 2
12-123424742-C-T c.1659G>A p.E553= Synonymous 9/12 - 1
12-123424744-C-T c.1657G>A p.E553K Missense 9/12 - 2
12-123424749-A-T c.1652T>A p.I551N Missense 9/12 - 1
12-123424755-A-G c.1646T>C p.V549A Missense 9/12 - 1
12-123424766-C-A c.1635G>T p.K545N Missense 9/12 - 1
12-123424766-C-G c.1635G>C p.K545N Missense 9/12 - 1
12-123424766-C-T c.1635G>A p.K545= Synonymous 9/12 - 2
12-123424767-T-G c.1634A>C p.K545T Missense 9/12 - 4
12-123424770-C-A c.1631G>T p.G544V Missense 9/12 - 1
12-123424770-C-T c.1631G>A p.G544E Missense 9/12 - 3
12-123424796-C-A c.1605G>T p.T535= Synonymous 9/12 - 1
12-123424796-C-G c.1605G>C p.T535= Synonymous 9/12 - 1
12-123424796-C-T c.1605G>A p.T535= Synonymous 9/12 - 1
12-123424797-G-A c.1604C>T p.T535M Missense 9/12 - 2
12-123424806-C-T c.1595G>A p.G532D Missense 9/12 - 2
12-123424808-G-A c.1593C>T p.P531= Synonymous 9/12 - 1
12-123424808-G-C c.1593C>G p.P531= Synonymous 9/12 - 1
12-123424808-G-T c.1593C>A p.P531= Synonymous 9/12 - 1
12-123424809-G-A c.1592C>T p.P531L Missense 9/12 - 3
12-123424811-G-A c.1590C>T p.S530= Synonymous 9/12 - 1
12-123424811-G-C c.1590C>G p.S530= Synonymous 9/12 - 1
12-123424811-G-T c.1590C>A p.S530= Synonymous 9/12 - 1
12-123424818-CT-AG c.1582_1583inv p.S528L Missense 9/12 - 1
12-123424824-G-A c.1577C>T p.S526F Missense 9/12 - 3
12-123425261-C-T c.1569+93G>A - IntronicSNV - 8/11 1
12-123425363-C-T c.1560G>A p.Q520= Synonymous 8/12 - 3
12-123425376-C-T c.1547G>A p.R516Q Missense 8/12 - 1
12-123425377-G-A c.1546C>T p.R516W Missense 8/12 - 5
12-123425382-C-T c.1541G>A p.R514H Missense 8/12 - 2
12-123425383-G-A c.1540C>T p.R514C Missense 8/12 - 4
12-123425385-T-C c.1538A>G p.Y513C Missense 8/12 - 1
12-123425390-G-A c.1533C>T p.F511= Synonymous 8/12 - 1
12-123425405-A-C c.1518T>G p.F506L Missense 8/12 - 1
12-123425405-A-T c.1518T>A p.F506L Missense 8/12 - 1
12-123425407-A-G c.1516T>C p.F506L Missense 8/12 - 1
12-123425410-C-T c.1513G>A p.D505N Missense 8/12 - 1
12-123425413-C-T c.1510G>A p.V504M Missense 8/12 - 1
12-123425415-C-T c.1508G>A p.R503Q Missense 8/12 - 3
12-123425416-G-A c.1507C>T p.R503W Missense 8/12 - 1
12-123425419-C-T c.1504G>A p.G502S Missense 8/12 - 1
12-123425420-C-A c.1503G>T p.E501D Missense 8/12 - 2
12-123425420-C-G c.1503G>C p.E501D Missense 8/12 - 1
12-123425425-G-T c.1498C>A p.L500M Missense 8/12 - 1
12-123425427-T-A c.1496A>T p.H499L Missense 8/12 - 1
12-123425429-G-A c.1494C>T p.D498= Synonymous 8/12 - 1
12-123425434-G-A c.1489C>T p.P497S Missense 8/12 - 1
12-123425431-C-CG c.1491dup p.D498Rfs*10 Frameshift 8/12 - 1
12-123425450-G-A c.1473C>T p.H491= Synonymous 8/12 - 2
12-123425456-C-A c.1467G>T p.M489I Missense 8/12 - 1
12-123425456-C-G c.1467G>C p.M489I Missense 8/12 - 1
12-123425456-C-T c.1467G>A p.M489I Missense 8/12 - 1
12-123425463-G-A c.1460C>T p.P487L Missense 8/12 - 1
12-123425465-C-T c.1458G>A p.Q486= Synonymous 8/12 - 1
12-123425471-G-T c.1452C>A p.D484E Missense 8/12 - 1
12-123425472-T-A c.1451A>T p.D484V Missense 8/12 - 1
12-123425473-C-T c.1450G>A p.D484N Missense 8/12 - 3
12-123425486-C-A c.1437G>T p.V479= Synonymous 8/12 - 1
12-123425486-C-G c.1437G>C p.V479= Synonymous 8/12 - 1
12-123425486-C-T c.1437G>A p.V479= Synonymous 8/12 - 1
12-123425490-T-A c.1433A>T p.K478M Missense 8/12 - 1
12-123425500-GCCCCCACTCCCT-G c.1412_1423del p.Q471_A475delinsP MultiAAMissense 8/12 - 1
12-123425504-C-G c.1419G>C p.V473= Synonymous 8/12 - 1
12-123425508-C-T c.1415G>A p.G472E Missense 8/12 - 2
12-123425509-C-T c.1414G>A p.G472R Missense 8/12 - 1
12-123425512-G-A c.1411C>T p.Q471* Nonsense 8/12 - 4
12-123425519-GC-G c.1403del p.G468Afs*2 Frameshift 8/12 - 2
12-123425523-CT-AG c.1399_1400inv p.S467L Missense 8/12 - 1
12-123425536-C-T c.1387G>A p.G463S Missense 8/12 - 1
12-123425540-G-A c.1383C>T p.S461= Synonymous 8/12 - 1
12-123425540-G-C c.1383C>G p.S461= Synonymous 8/12 - 1
12-123425541-G-A c.1382C>T p.S461F Missense 8/12 - 1
12-123425541-G-T c.1382C>A p.S461Y Missense 8/12 - 2
12-123425575-C-A c.1381-33G>T - IntronicSNV - 7/11 8
12-123425575-C-G c.1381-33G>C - IntronicSNV - 7/11 8
12-123425575-C-T c.1381-33G>A - IntronicSNV - 7/11 8
12-123427573-A-G c.1380+1365T>C - IntronicSNV - 7/11 1
12-123428632-C-A c.1380+306G>T - IntronicSNV - 7/11 1
12-123428632-C-T c.1380+306G>A - IntronicSNV - 7/11 1
12-123428872-T-A c.1380+66A>T - IntronicSNV - 7/11 1
12-123428937-C-T c.1380+1G>A - IntronicSNV - 7/11 1
12-123428964-C-A c.1354G>T p.E452* Nonsense 7/12 - 1
12-123428967-A-T c.1351T>A p.Y451N Missense 7/12 - 1
12-123428969-A-G c.1349T>C p.I450T Missense 7/12 - 1
12-123428978-G-A c.1340C>T p.A447V Missense 7/12 - 1
12-123428979-C-T c.1339G>A p.A447T Missense 7/12 - 1
12-123428988-T-C c.1330A>G p.N444D Missense 7/12 - 2
12-123428991-C-A c.1327G>T p.G443C Missense 7/12 - 4
12-123428995-G-T c.1323C>A p.T441= Synonymous 7/12 - 1
12-123429012-T-C c.1306A>G p.I436V Missense 7/12 - 1
12-123429018-G-T c.1300C>A p.L434I Missense 7/12 - 1
12-123429023-C-T c.1295G>A p.G432D Missense 7/12 - 3
12-123429030-TA-T c.1288del p.Y430Tfs*11 Frameshift 7/12 - 1
12-123429037-G-C c.1281C>G p.I427M Missense 7/12 - 1
12-123429064-G-A c.1254C>T p.L418= Synonymous 7/12 - 1
12-123429978-G-C c.1251+594C>G - IntronicSNV - 6/11 6
12-123430577-T-A c.1246A>T p.S416C Missense 6/12 - 4
12-123430594-A-C c.1229T>G p.M410R Missense 6/12 - 1
12-123430597-T-G c.1226A>C p.Y409S Missense 6/12 - 4
12-123430600-G-A c.1223C>T p.A408V Missense 6/12 - 1
12-123430613-T-A c.1210A>T p.K404* Nonsense 6/12 - 1
12-123430616-T-C c.1207A>G p.R403G Missense 6/12 - 1
12-123430617-G-A c.1206C>T p.N402= Synonymous 6/12 - 1
12-123430646-G-A c.1177C>T p.R393W Missense 6/12 - 1
12-123430651-T-C c.1172A>G p.Y391C Missense 6/12 - 2
12-123430662-C-G c.1161G>C p.E387D Missense 6/12 - 1
12-123430663-T-G c.1160A>C p.E387A Missense 6/12 - 2
12-123430665-C-T c.1158G>A p.E386= Synonymous 6/12 - 1
12-123430670-C-A c.1153G>T p.E385* Nonsense 6/12 - 1
12-123430670-C-T c.1153G>A p.E385K Missense 6/12 - 3
12-123430675-T-C c.1148A>G p.N383S Missense 6/12 - 3
12-123430680-G-A c.1143C>T p.F381= Synonymous 6/12 - 2
12-123430687-C-A c.1136G>T p.R379L Missense 6/12 - 2
12-123430687-C-T c.1136G>A p.R379Q Missense 6/12 - 7
12-123430688-G-A c.1135C>T p.R379W Missense 6/12 - 1
12-123430689-G-T c.1134C>A p.V378= Synonymous 6/12 - 2
12-123430695-C-G c.1128G>C p.K376N Missense 6/12 - 1
12-123430699-A-G c.1124T>C p.M375T Missense 6/12 - 1
12-123430703-C-T c.1120G>A p.A374T Missense 6/12 - 1
12-123430705-C-T c.1118G>A p.S373N Missense 6/12 - 1
12-123430707-G-T c.1116C>A p.I372= Synonymous 6/12 - 1
12-123430711-G-A c.1112C>T p.T371I Missense 6/12 - 3
12-123430718-C-G c.1105G>C p.E369Q Missense 6/12 - 1
12-123430721-C-T c.1102G>A p.A368T Missense 6/12 - 1
12-123430723-G-A c.1100C>T p.T367M Missense 6/12 - 1
12-123430729-C-T c.1094G>A p.S365N Missense 6/12 - 1
12-123430732-G-A c.1091C>T p.A364V Missense 6/12 - 1
12-123430734-TCT-ATG c.1087_1089delinsCAT p.R363H Missense 6/12 - 1
12-123430734-TCT-CCA c.1087_1089delinsTGG p.R363W Missense 6/12 - 2
12-123430735-C-T c.1088G>A p.R363K Missense 6/12 - 1
12-123430743-G-A c.1080C>T p.A360= Synonymous 6/12 - 1
12-123430746-A-G c.1077T>C p.N359= Synonymous 6/12 - 1
12-123430750-T-A c.1073A>T p.Q358L Missense 6/12 - 1
12-123430757-C-T c.1066G>A p.E356K Missense 6/12 - 2
12-123430758-T-G c.1065A>C p.K355N Missense 6/12 - 1
12-123430762-G-A c.1061C>T p.S354F Missense 6/12 - 2
12-123430767-C-T c.1056G>A p.R352= Synonymous 6/12 - 3
12-123430769-T-G c.1054A>C p.R352= Synonymous 6/12 - 3
12-123430768-C-T c.1055G>A p.R352K Missense 6/12 - 1
12-123430768-CT-TG c.1054_1055delinsCA p.R352Q Missense 6/12 - 1
12-123431881-G-A c.1054-1112C>T - IntronicSNV - 5/11 1
12-123431881-G-C c.1054-1112C>G - IntronicSNV - 5/11 1
12-123432001-T-C c.1053+1170A>G - IntronicSNV - 5/11 1
12-123433137-T-A c.1053+34A>T - IntronicSNV - 5/11 5
12-123433137-T-C c.1053+34A>G - IntronicSNV - 5/11 7
12-123433175-T-C c.1049A>G p.Y350C Missense 5/12 - 1
12-123433177-G-T c.1047C>A p.Y349* Nonsense 5/12 - 1
12-123433194-T-C c.1030A>G p.N344D Missense 5/12 - 1
12-123433196-GA-AT c.1027_1028delinsAT p.S343I Missense 5/12 - 1
12-123433200-C-T c.1024G>A p.V342M Missense 5/12 - 2
12-123433201-C-A c.1023G>T p.M341I Missense 5/12 - 1
12-123433201-C-G c.1023G>C p.M341I Missense 5/12 - 1
12-123433201-C-T c.1023G>A p.M341I Missense 5/12 - 1
12-123433209-T-C c.1015A>G p.I339V Missense 5/12 - 2
12-123433213-G-A c.1011C>T p.P337= Synonymous 5/12 - 1
12-123433221-C-G c.1003G>C p.G335R Missense 5/12 - 1
12-123433228-G-A c.996C>T p.T332= Synonymous 5/12 - 3
12-123433229-G-A c.995C>T p.T332I Missense 5/12 - 1
12-123433238-G-A c.986C>T p.S329F Missense 5/12 - 2
12-123433245-G-A c.979C>T p.Q327* Nonsense 5/12 - 1
12-123433249-T-A c.975A>T p.S325= Synonymous 5/12 - 1
12-123433249-T-C c.975A>G p.S325= Synonymous 5/12 - 1
12-123433249-T-G c.975A>C p.S325= Synonymous 5/12 - 1
12-123433250-G-A c.974C>T p.S325L Missense 5/12 - 4
12-123433250-G-C c.974C>G p.S325* Nonsense 5/12 - 1
12-123433250-G-T c.974C>A p.S325* Nonsense 5/12 - 1
12-123433254-G-A c.970C>T p.L324F Missense 5/12 - 1
12-123433272-C-T c.952G>A p.V318M Missense 5/12 - 1
12-123433275-C-T c.949G>A p.V317M Missense 5/12 - 2
12-123433276-G-A c.948C>T p.G316= Synonymous 5/12 - 4
12-123433276-G-C c.948C>G p.G316= Synonymous 5/12 - 2
12-123433276-G-T c.948C>A p.G316= Synonymous 5/12 - 2
12-123433280-G-A c.944C>T p.T315M Missense 5/12 - 2
12-123433295-T-C c.929A>G p.N310S Missense 5/12 - 2
12-123433297-CC-AT c.926_927delinsAT p.R309H Missense 5/12 - 2
12-123433298-C-T c.926G>A p.R309Q Missense 5/12 - 1
12-123433299-G-A c.925C>T p.R309W Missense 5/12 - 3
12-123433309-AT-A c.914del p.N305Mfs*36 Frameshift 5/12 - 1
12-123433313-A-C c.911T>G p.I304S Missense 5/12 - 1
12-123433322-G-A c.902C>T p.S301F Missense 5/12 - 2
12-123433328-A-G c.896T>C p.L299P Missense 5/12 - 1
12-123433332-C-A c.892G>T p.D298Y Missense 5/12 - 1
12-123433332-C-T c.892G>A p.D298N Missense 5/12 - 4
12-123433334-C-T c.890G>A p.S297N Missense 5/12 - 2
12-123433338-C-T c.886G>A p.V296I Missense 5/12 - 1
12-123433339-C-A c.885G>T p.M295I Missense 5/12 - 1
12-123433342-G-A c.882C>T p.T294= Synonymous 5/12 - 1
12-123433345-G-A c.879C>T p.T293= Synonymous 5/12 - 1
12-123433345-G-C c.879C>G p.T293= Synonymous 5/12 - 1
12-123433345-G-T c.879C>A p.T293= Synonymous 5/12 - 1
12-123433352-G-A c.872C>T p.S291L Missense 5/12 - 1
12-123433359-G-A c.865C>T p.L289= Synonymous 5/12 - 3
12-123433363-G-A c.861C>T p.S287= Synonymous 5/12 - 1
12-123433363-G-C c.861C>G p.S287= Synonymous 5/12 - 1
12-123433363-G-T c.861C>A p.S287= Synonymous 5/12 - 1
12-123433364-G-A c.860C>T p.S287F Missense 5/12 - 2
12-123433364-GA-TT c.859_860delinsAA p.S287N Missense 5/12 - 1
12-123433371-G-A c.853C>T p.L285F Missense 5/12 - 1
12-123433376-C-T c.848G>A p.G283E Missense 5/12 - 1
12-123434336-TG-CA c.845_846inv p.T282M Missense 4/12 - 1
12-123434337-G-A c.845C>T p.T282I Missense 4/12 - 1
12-123434337-G-C c.845C>G p.T282R Missense 4/12 - 1
12-123434340-C-A c.842G>T p.R281L Missense 4/12 - 3
12-123434340-C-T c.842G>A p.R281H Missense 4/12 - 2
12-123434341-G-A c.841C>T p.R281C Missense 4/12 - 3
12-123434347-C-T c.835G>A p.E279K Missense 4/12 - 3
12-123434349-T-C c.833A>G p.D278G Missense 4/12 - 1
12-123434350-C-G c.832G>C p.D278H Missense 4/12 - 1
12-123434354-G-C c.828C>G p.F276L Missense 4/12 - 1
12-123434354-G-T c.828C>A p.F276L Missense 4/12 - 1
12-123434356-A-G c.826T>C p.F276L Missense 4/12 - 1
12-123434361-G-C c.821C>G p.T274R Missense 4/12 - 1
12-123434362-T-C c.820A>G p.T274A Missense 4/12 - 2
12-123434363-C-A c.819G>T p.E273D Missense 4/12 - 1
12-123434363-C-G c.819G>C p.E273D Missense 4/12 - 1
12-123434367-T-A c.815A>T p.Q272L Missense 4/12 - 1
12-123434369-G-A c.813C>T p.S271= Synonymous 4/12 - 1
12-123434369-G-C c.813C>G p.S271= Synonymous 4/12 - 1
12-123434369-G-T c.813C>A p.S271= Synonymous 4/12 - 1
12-123434375-CAG-AAA c.805_807delinsTTT p.L269F Missense 4/12 - 1
12-123434382-C-A c.800G>T p.R267L Missense 4/12 - 2
12-123434383-G-A c.799C>T p.R267C Missense 4/12 - 1
12-123434397-C-T c.785G>A p.R262Q Missense 4/12 - 1
12-123434398-G-A c.784C>T p.R262* Nonsense 4/12 - 1
12-123434404-G-A c.778C>T p.R260C Missense 4/12 - 1
12-123434404-G-T c.778C>A p.R260S Missense 4/12 - 1
12-123434410-T-C c.772A>G p.N258D Missense 4/12 - 1
12-123434414-T-C c.768A>G p.R256= Synonymous 4/12 - 2
12-123434416-T-G c.766A>C p.R256= Synonymous 4/12 - 2
12-123434421-A-G c.761T>C p.F254S Missense 4/12 - 1
12-123434423-T-C c.759A>G p.I253M Missense 4/12 - 1
12-123434425-T-C c.757A>G p.I253V Missense 4/12 - 1
12-123434428-G-A c.754C>T p.L252F Missense 4/12 - 4
12-123434429-G-A c.753C>T p.T251= Synonymous 4/12 - 1
12-123434429-G-C c.753C>G p.T251= Synonymous 4/12 - 1
12-123434429-G-T c.753C>A p.T251= Synonymous 4/12 - 1
12-123434439-C-T c.743G>A p.G248D Missense 4/12 - 8
12-123434440-C-T c.742G>A p.G248S Missense 4/12 - 2
12-123434446-G-A c.736C>T p.R246W Missense 4/12 - 5
12-123434449-T-C c.733A>G p.I245V Missense 4/12 - 1
12-123434454-G-A c.728C>T p.A243V Missense 4/12 - 1
12-123434459-A-G c.723T>C p.F241= Synonymous 4/12 - 1
12-123434463-G-C c.719C>G p.S240* Nonsense 4/12 - 1
12-123434463-G-T c.719C>A p.S240* Nonsense 4/12 - 1
12-123434464-A-G c.718T>C p.S240P Missense 4/12 - 1
12-123434464-GA-G c.718del p.S240Hfs*18 Frameshift 4/12 - 1
12-123434524-G-A c.717-59C>T - IntronicSNV - 3/11 1
12-123434959-G-C c.716+39C>G - IntronicSNV - 3/11 1
12-123435000-G-A c.714C>T p.G238= Synonymous 3/12 - 1
12-123435014-G-A c.700C>T p.L234= Synonymous 3/12 - 1
12-123435021-G-A c.693C>T p.I231= Synonymous 3/12 - 1
12-123435026-C-T c.688G>A p.V230I Missense 3/12 - 1
12-123435032-C-T c.682G>A p.A228T Missense 3/12 - 1
12-123435034-G-A c.680C>T p.T227M Missense 3/12 - 1
12-123435035-T-A c.679A>T p.T227S Missense 3/12 - 1
12-123435036-G-A c.678C>T p.S226= Synonymous 3/12 - 1
12-123435037-C-G c.677G>C p.S226T Missense 3/12 - 1
12-123435055-T-C c.659A>G p.K220R Missense 3/12 - 1
12-123435065-C-T c.649G>A p.V217I Missense 3/12 - 1
12-123435067-A-G c.647T>C p.I216T Missense 3/12 - 1
12-123435068-T-C c.646A>G p.I216V Missense 3/12 - 1
12-123435071-C-A c.643G>T p.G215C Missense 3/12 - 3
12-123435074-C-G c.640G>C p.D214H Missense 3/12 - 1
12-123435079-G-A c.635C>T p.A212V Missense 3/12 - 2
12-123435080-C-T c.634G>A p.A212T Missense 3/12 - 1
12-123435082-C-A c.632G>T p.R211L Missense 3/12 - 1
12-123435083-G-A c.631C>T p.R211C Missense 3/12 - 1
12-123435087-CG-GA c.626_627delinsTC p.T209I Missense 3/12 - 1
12-123435088-G-A c.626C>T p.T209M Missense 3/12 - 2
12-123435089-T-C c.625A>G p.T209A Missense 3/12 - 1
12-123435098-G-A c.616C>T p.P206S Missense 3/12 - 1
12-123435102-G-A c.612C>T p.F204= Synonymous 3/12 - 1
12-123435107-T-G c.607A>C p.T203P Missense 3/12 - 1
12-123435108-C-A c.606G>T p.E202D Missense 3/12 - 1
12-123436729-C-T c.602-1617G>A - IntronicSNV - 2/11 1
12-123436900-G-A c.602-1788C>T - IntronicSNV - 2/11 1
12-123444182-C-G c.601G>C p.G201R Missense 2/12 - 2
12-123444182-C-T c.601G>A p.G201R Missense 2/12 - 2
12-123444187-G-A c.596C>T p.A199V Missense 2/12 - 1
12-123444191-C-T c.592G>A p.A198T Missense 2/12 - 1
12-123444194-C-T c.589G>A p.V197M Missense 2/12 - 1
12-123444204-G-A c.579C>T p.F193= Synonymous 2/12 - 1
12-123444207-G-A c.576C>T p.S192= Synonymous 2/12 - 1
12-123444208-G-A c.575C>T p.S192F Missense 2/12 - 1
12-123444208-GA-AG c.574_575delinsCT p.S192L Missense 2/12 - 1
12-123444214-G-A c.569C>T p.A190V Missense 2/12 - 3
12-123444218-C-A c.565G>T p.V189L Missense 2/12 - 1
12-123444218-C-G c.565G>C p.V189L Missense 2/12 - 1
12-123444218-C-T c.565G>A p.V189M Missense 2/12 - 1
12-123444219-G-A c.564C>T p.L188= Synonymous 2/12 - 5
12-123444219-G-C c.564C>G p.L188= Synonymous 2/12 - 3
12-123444219-G-T c.564C>A p.L188= Synonymous 2/12 - 3
12-123444220-A-T c.563T>A p.L188H Missense 2/12 - 1
12-123444231-G-A c.552C>T p.D184= Synonymous 2/12 - 1
12-123444233-C-T c.550G>A p.D184N Missense 2/12 - 1
12-123444240-G-A c.543C>T p.T181= Synonymous 2/12 - 1
12-123444240-G-C c.543C>G p.T181= Synonymous 2/12 - 1
12-123444240-G-T c.543C>A p.T181= Synonymous 2/12 - 1
12-123444241-G-A c.542C>T p.T181I Missense 2/12 - 4
12-123444251-G-A c.532C>T p.L178F Missense 2/12 - 2
12-123444258-C-T c.525G>A p.Q175= Synonymous 2/12 - 1
12-123444274-G-T c.509C>A p.S170Y Missense 2/12 - 2
12-123444278-C-A c.505G>T p.A169S Missense 2/12 - 1
12-123444284-C-A c.499G>T p.E167* Nonsense 2/12 - 1
12-123444284-C-T c.499G>A p.E167K Missense 2/12 - 1
12-123444287-G-A c.496C>T p.P166S Missense 2/12 - 1
12-123444290-G-A c.493C>T p.P165S Missense 2/12 - 2
12-123444295-C-T c.488G>A p.R163Q Missense 2/12 - 1
12-123444304-C-T c.479G>A p.G160E Missense 2/12 - 1
12-123444309-G-A c.474C>T p.F158= Synonymous 2/12 - 1
12-123444318-A-C c.465T>G p.A155= Synonymous 2/12 - 1
12-123444318-A-G c.465T>C p.A155= Synonymous 2/12 - 1
12-123444318-A-T c.465T>A p.A155= Synonymous 2/12 - 1
12-123444320-C-A c.463G>T p.A155S Missense 2/12 - 1
12-123444321-C-T c.462G>A p.E154= Synonymous 2/12 - 1
12-123444323-C-T c.460G>A p.E154K Missense 2/12 - 2
12-123444331-G-A c.452C>T p.A151V Missense 2/12 - 1
12-123444333-C-T c.450G>A p.G150= Synonymous 2/12 - 1
12-123444334-C-A c.449G>T p.G150V Missense 2/12 - 1
12-123444339-C-T c.444G>A p.E148= Synonymous 2/12 - 1
12-123444345-G-A c.438C>T p.A146= Synonymous 2/12 - 1
12-123444346-G-A c.437C>T p.A146V Missense 2/12 - 1
12-123444352-G-A c.431C>T p.T144I Missense 2/12 - 1
12-123444359-G-T c.424C>A p.P142T Missense 2/12 - 1
12-123444361-C-T c.422G>A p.R141Q Missense 2/12 - 1
12-123444360-C-A c.423G>T p.R141= Synonymous 2/12 - 1
12-123444360-C-G c.423G>C p.R141= Synonymous 2/12 - 1
12-123444360-C-T c.423G>A p.R141= Synonymous 2/12 - 1
12-123444362-G-A c.421C>T p.R141W Missense 2/12 - 2
12-123444362-G-T c.421C>A p.R141= Synonymous 2/12 - 1
12-123444365-C-A c.418G>T p.V140L Missense 2/12 - 1
12-123444365-C-G c.418G>C p.V140L Missense 2/12 - 1
12-123444365-C-T c.418G>A p.V140M Missense 2/12 - 6
12-123444367-G-A c.416C>T p.T139I Missense 2/12 - 4
12-123444370-G-C c.413C>G p.S138C Missense 2/12 - 1
12-123444372-CAG-GAT c.409_411delinsATC p.L137I Missense 2/12 - 1
12-123444381-C-T c.402G>A p.W134* Nonsense 2/12 - 1
12-123444382-C-T c.401G>A p.W134* Nonsense 2/12 - 1
12-123444384-G-A c.399C>T p.L133= Synonymous 2/12 - 1
12-123444384-G-C c.399C>G p.L133= Synonymous 2/12 - 1
12-123444384-G-T c.399C>A p.L133= Synonymous 2/12 - 1
12-123444385-A-C c.398T>G p.L133R Missense 2/12 - 1
12-123444386-G-A c.397C>T p.L133F Missense 2/12 - 1
12-123444398-C-T c.385G>A p.A129T Missense 2/12 - 3
12-123444406-G-A c.377C>T p.S126L Missense 2/12 - 4
12-123444406-G-C c.377C>G p.S126* Nonsense 2/12 - 2
12-123444406-G-T c.377C>A p.S126* Nonsense 2/12 - 2
12-123444414-C-T c.369G>A p.T123= Synonymous 2/12 - 1
12-123444415-G-A c.368C>T p.T123M Missense 2/12 - 1
12-123444422-C-A c.361G>T p.V121L Missense 2/12 - 4
12-123444422-C-G c.361G>C p.V121L Missense 2/12 - 2
12-123444422-C-T c.361G>A p.V121M Missense 2/12 - 4
12-123444423-G-A c.360C>T p.F120= Synonymous 2/12 - 7
12-123444430-G-A c.353C>T p.A118V Missense 2/12 - 4
12-123444433-C-G c.350G>C p.W117S Missense 2/12 - 1
12-123444435-A-G c.348T>C p.F116= Synonymous 2/12 - 1
12-123444442-G-A c.341C>T p.P114L Missense 2/12 - 1
12-123444443-G-A c.340C>T p.P114S Missense 2/12 - 3
12-123444448-C-A c.335G>T p.R112L Missense 2/12 - 2
12-123444449-G-A c.334C>T p.R112W Missense 2/12 - 1
12-123444450-G-A c.333C>T p.I111= Synonymous 2/12 - 2
12-123444457-C-A c.326G>T p.R109M Missense 2/12 - 1
12-123444457-CT-AG c.325_326inv p.R109L Missense 2/12 - 1
12-123444459-GC-TT c.323_324delinsAA p.R108Q Missense 2/12 - 1
12-123444460-C-T c.323G>A p.R108H Missense 2/12 - 2
12-123444461-G-A c.322C>T p.R108C Missense 2/12 - 2
12-123444465-C-A c.318G>T p.E106D Missense 2/12 - 1
12-123444482-G-T c.301C>A p.L101M Missense 2/12 - 1
12-123444483-C-A c.300G>T p.K100N Missense 2/12 - 1
12-123444483-C-G c.300G>C p.K100N Missense 2/12 - 1
12-123444494-C-A c.289G>T p.A97S Missense 2/12 - 1
12-123444502-C-T c.281G>A p.G94D Missense 2/12 - 1
12-123444506-C-T c.277G>A p.V93M Missense 2/12 - 2
12-123444507-G-A c.276C>T p.F92= Synonymous 2/12 - 3
12-123444507-G-C c.276C>G p.F92L Missense 2/12 - 6
12-123444507-G-T c.276C>A p.F92L Missense 2/12 - 9
12-123444509-A-G c.274T>C p.F92L Missense 2/12 - 2
12-123444513-G-T c.270C>A p.C90* Nonsense 2/12 - 3
12-123444518-C-T c.265G>A p.V89M Missense 2/12 - 1
12-123444519-G-A c.264C>T p.L88= Synonymous 2/12 - 1
12-123444519-G-C c.264C>G p.L88= Synonymous 2/12 - 1
12-123444519-G-T c.264C>A p.L88= Synonymous 2/12 - 1
12-123444523-G-A c.260C>T p.T87I Missense 2/12 - 2
12-123444535-C-A c.248G>T p.W83L Missense 2/12 - 2
12-123444537-C-A c.246G>T p.S82= Synonymous 2/12 - 1
12-123444537-C-G c.246G>C p.S82= Synonymous 2/12 - 1
12-123444537-C-T c.246G>A p.S82= Synonymous 2/12 - 1
12-123444540-G-A c.243C>T p.A81= Synonymous 2/12 - 1
12-123444540-G-C c.243C>G p.A81= Synonymous 2/12 - 1
12-123444540-G-T c.243C>A p.A81= Synonymous 2/12 - 1
12-123444544-C-T c.239G>A p.R80Q Missense 2/12 - 1
12-123444545-G-A c.238C>T p.R80W Missense 2/12 - 1
12-123444549-CCG-ACA c.232_234delinsTGT p.R78C Missense 2/12 - 1
12-123444550-C-T c.233G>A p.R78Q Missense 2/12 - 1
12-123444551-G-A c.232C>T p.R78W Missense 2/12 - 2
12-123444552-C-A c.231G>T p.R77= Synonymous 2/12 - 1
12-123444552-C-G c.231G>C p.R77= Synonymous 2/12 - 1
12-123444552-C-T c.231G>A p.R77= Synonymous 2/12 - 1
12-123444554-G-T c.229C>A p.R77= Synonymous 2/12 - 1
12-123444558-CC-GT c.224_225delinsAC p.G75D Missense 2/12 - 1
12-123444561-C-A c.222G>T p.L74= Synonymous 2/12 - 1
12-123444561-C-G c.222G>C p.L74= Synonymous 2/12 - 1
12-123444561-C-T c.222G>A p.L74= Synonymous 2/12 - 1
12-123444563-G-A c.220C>T p.L74= Synonymous 2/12 - 1
12-123444564-C-A c.219G>T p.A73= Synonymous 2/12 - 1
12-123444564-C-G c.219G>C p.A73= Synonymous 2/12 - 1
12-123444564-C-T c.219G>A p.A73= Synonymous 2/12 - 1
12-123444565-G-A c.218C>T p.A73V Missense 2/12 - 1
12-123444569-T-C c.214A>G p.S72G Missense 2/12 - 1
12-123444569-T-G c.214A>C p.S72R Missense 2/12 - 1
12-123444572-T-C c.211A>G p.N71D Missense 2/12 - 1
12-123444577-G-T c.206C>A p.A69D Missense 2/12 - 4
12-123444583-C-T c.200G>A p.G67D Missense 2/12 - 1
12-123444591-GGC-TTA c.190_192delinsTAA p.A64* Nonsense 2/12 - 1
12-123444592-G-A c.191C>T p.A64V Missense 2/12 - 1
12-123444594-T-A c.189A>T p.G63= Synonymous 2/12 - 1
12-123444594-T-C c.189A>G p.G63= Synonymous 2/12 - 1
12-123444594-T-G c.189A>C p.G63= Synonymous 2/12 - 1
12-123444597-C-A c.186G>T p.L62= Synonymous 2/12 - 2
12-123444597-C-G c.186G>C p.L62= Synonymous 2/12 - 2
12-123444597-C-T c.186G>A p.L62= Synonymous 2/12 - 2
12-123444599-G-A c.184C>T p.L62= Synonymous 2/12 - 2
12-123444605-G-T c.178C>A p.L60M Missense 2/12 - 1
12-123444606-G-T c.177C>A p.C59* Nonsense 2/12 - 1
12-123444607-C-A c.176G>T p.C59F Missense 2/12 - 1
12-123444613-C-T c.170G>A p.R57H Missense 2/12 - 4
12-123444614-G-A c.169C>T p.R57C Missense 2/12 - 3
12-123444618-C-A c.165G>T p.L55= Synonymous 2/12 - 2
12-123444618-C-G c.165G>C p.L55= Synonymous 2/12 - 2
12-123444618-C-T c.165G>A p.L55= Synonymous 2/12 - 2
12-123444620-G-A c.163C>T p.L55= Synonymous 2/12 - 2
12-123444629-C-T c.154G>A p.A52T Missense 2/12 - 2
12-123444635-G-T c.148C>A p.L50I Missense 2/12 - 1
12-123444646-G-A c.137C>T p.S46L Missense 2/12 - 1
12-123444650-C-T c.133G>A p.D45N Missense 2/12 - 1
12-123444656-T-C c.127A>G p.I43V Missense 2/12 - 1
12-123444661-A-C c.122T>G p.F41C Missense 2/12 - 1
12-123444663-G-A c.120C>T p.H40= Synonymous 2/12 - 2
12-123444663-G-T c.120C>A p.H40Q Missense 2/12 - 1
12-123444664-T-A c.119A>T p.H40L Missense 2/12 - 3
12-123444667-C-T c.116G>A p.R39H Missense 2/12 - 1
12-123444683-G-A c.100C>T p.L34F Missense 2/12 - 1
12-123444685-C-G c.98G>C p.S33T Missense 2/12 - 1
12-123444690-G-A c.93C>T p.D31= Synonymous 2/12 - 1
12-123444692-C-A c.91G>T p.D31Y Missense 2/12 - 1
12-123444701-T-A c.82A>T p.S28C Missense 2/12 - 1
12-123444707-C-A c.76G>T p.V26F Missense 2/12 - 1
12-123444711-G-A c.72C>T p.I24= Synonymous 2/12 - 1
12-123444711-G-T c.72C>A p.I24= Synonymous 2/12 - 1
12-123444713-T-G c.70A>C p.I24L Missense 2/12 - 1
12-123444714-GGC-CAT c.67_69delinsATG p.A23M Missense 2/12 - 1
12-123444721-G-A c.62C>T p.T21I Missense 2/12 - 2
12-123444725-C-T c.58G>A p.V20M Missense 2/12 - 1
12-123444726-G-A c.57C>T p.C19= Synonymous 2/12 - 1
12-123444730-A-T c.53T>A p.I18N Missense 2/12 - 1
12-123444745-AA-GC c.37_38delinsGC p.F13A Missense 2/12 - 1
12-123444747-G-A c.36C>T p.A12= Synonymous 2/12 - 1
12-123444747-G-C c.36C>G p.A12= Synonymous 2/12 - 1
12-123444747-GGC-CAT c.34_36delinsATG p.A12M Missense 2/12 - 1
12-123444747-G-T c.36C>A p.A12= Synonymous 2/12 - 1
12-123444749-C-A c.34G>T p.A12S Missense 2/12 - 1
12-123444751-A-G c.32T>C p.L11S Missense 2/12 - 1
12-123444755-TCACCAC-T c.22_27del p.V8_V9del InFrameDeletion 2/12 - 1
12-123444774-C-A c.9G>T p.L3= Synonymous 2/12 - 1
12-123444774-C-G c.9G>C p.L3= Synonymous 2/12 - 1
12-123444774-C-T c.9G>A p.L3= Synonymous 2/12 - 1
12-123444776-G-A c.7C>T p.L3= Synonymous 2/12 - 1
12-123444778-C-T c.5G>A p.R2Q Missense 2/12 - 1
12-123444779-G-A c.4C>T p.R2W Missense 2/12 - 3
12-123450765-G-C c.-88+69C>G - 5-UTRSNV - 1/11 4
12-123447928-T-C c.-88+2906A>G - intron_variant - 1/11 15