KRT6A

KRT6A keratin 6A

Annotation transcript: NM_005554.4

824 unique variant annotations were identified in 390 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
12-52880996-C-G c.*508G>C - 3-UTRSNV 9/9 - 4
12-52880999-C-T c.*505G>A - 3-UTRSNV 9/9 - 3
12-52881260-C-CAA c.*243_*244insTT - 3-UTRInsertion 9/9 - 2
12-52881337-G-T c.*167C>A - 3-UTRSNV 9/9 - 1
12-52881343-G-C c.*161C>G - 3-UTRSNV 9/9 - 1
12-52881343-G-T c.*161C>A - 3-UTRSNV 9/9 - 1
12-52881363-G-A c.*141C>T - 3-UTRSNV 9/9 - 5
12-52881363-G-C c.*141C>G - 3-UTRSNV 9/9 - 5
12-52881376-C-T c.*128G>A - 3-UTRSNV 9/9 - 8
12-52881380-A-C c.*124T>G - 3-UTRSNV 9/9 - 9
12-52881428-A-C c.*76T>G - 3-UTRSNV 9/9 - 12
12-52881517-C-T c.1682G>A p.S561N Missense 9/9 - 5
12-52881524-T-C c.1675A>G p.R559G Missense 9/9 - 2
12-52881525-G-A c.1674C>T p.S558= Synonymous 9/9 - 1
12-52881526-CT-AA c.1672_1673delinsTT p.S558F Missense 9/9 - 1
12-52881528-G-A c.1671C>T p.S557= Synonymous 9/9 - 1
12-52881528-G-C c.1671C>G p.S557= Synonymous 9/9 - 1
12-52881528-G-T c.1671C>A p.S557= Synonymous 9/9 - 1
12-52881529-G-A c.1670C>T p.S557F Missense 9/9 - 4
12-52881531-G-A c.1668C>T p.S556= Synonymous 9/9 - 1
12-52881532-G-A c.1667C>T p.S556F Missense 9/9 - 1
12-52881533-A-G c.1666T>C p.S556P Missense 9/9 - 1
12-52881534-G-A c.1665C>T p.S555= Synonymous 9/9 - 1
12-52881536-A-T c.1663T>A p.S555T Missense 9/9 - 2
12-52881537-G-A c.1662C>T p.T554= Synonymous 9/9 - 1
12-52881537-G-C c.1662C>G p.T554= Synonymous 9/9 - 1
12-52881538-G-C c.1661C>G p.T554S Missense 9/9 - 1
12-52881539-T-A c.1660A>T p.T554S Missense 9/9 - 1
12-52881544-G-A c.1655C>T p.T552I Missense 9/9 - 2
12-52881544-G-C c.1655C>G p.T552S Missense 9/9 - 8
12-52881545-T-A c.1654A>T p.T552S Missense 9/9 - 1
12-52881546-G-A c.1653C>T p.Y551Y UnclassifiedSNV 9/9 - 1
12-52881547-T-C c.1652A>G p.Y551C Missense 9/9 - 1
12-52881549-C-A c.1650G>T p.K550N Missense 9/9 - 2
12-52881549-C-T c.1650G>A p.K550= Synonymous 9/9 - 1
12-52881551-T-G c.1648A>C p.K550Q Missense 9/9 - 2
12-52881561-A-G c.1638T>C p.S546= Synonymous 9/9 - 2
12-52881562-C-T c.1637G>A p.S546N Missense 9/9 - 1
12-52881566-C-A c.1633G>T p.G545C Missense 9/9 - 2
12-52881567-G-A c.1632C>T p.G544= Synonymous 9/9 - 3
12-52881567-G-C c.1632C>G p.G544= Synonymous 9/9 - 1
12-52881567-G-T c.1632C>A p.G544= Synonymous 9/9 - 1
12-52881572-C-T c.1627G>A p.G543R Missense 9/9 - 1
12-52881574-A-G c.1625T>C p.V542A Missense 9/9 - 1
12-52881576-A-C c.1623T>G p.S541= Synonymous 9/9 - 1
12-52881576-A-G c.1623T>C p.S541= Synonymous 9/9 - 1
12-52881576-A-T c.1623T>A p.S541= Synonymous 9/9 - 1
12-52881577-G-A c.1622C>T p.S541F Missense 9/9 - 3
12-52881579-G-C c.1620C>G p.S540R Missense 9/9 - 2
12-52881579-G-T c.1620C>A p.S540R Missense 9/9 - 5
12-52881581-T-G c.1618A>C p.S540R Missense 9/9 - 2
12-52881580-C-A c.1619G>T p.S540I Missense 9/9 - 7
12-52881586-C-T c.1613G>A p.G538D Missense 9/9 - 1
12-52881587-C-T c.1612G>A p.G538S Missense 9/9 - 1
12-52881589-C-T c.1610G>A p.G537D Missense 9/9 - 5
12-52881592-C-T c.1607G>A p.G536E Missense 9/9 - 3
12-52881593-C-A c.1606G>T p.G536W Missense 9/9 - 5
12-52881595-A-C c.1604T>G p.I535S Missense 9/9 - 1
12-52881595-A-G c.1604T>C p.I535T Missense 9/9 - 2
12-52881595-A-T c.1604T>A p.I535N Missense 9/9 - 2
12-52881597-G-T c.1602C>A p.A534= Synonymous 9/9 - 1
12-52881598-G-A c.1601C>T p.A534V Missense 9/9 - 6
12-52881601-CT-TG c.1597_1598delinsCA p.R533Q Missense 9/9 - 1
12-52881603-G-A c.1596C>T p.G532= Synonymous 9/9 - 1
12-52881603-G-C c.1596C>G p.G532= Synonymous 9/9 - 1
12-52881603-G-T c.1596C>A p.G532= Synonymous 9/9 - 1
12-52881613-G-A c.1586C>T p.S529F Missense 9/9 - 3
12-52881621-AGCC-A c.1576_1578del p.G526del InFrameDeletion 9/9 - 1
12-52881626-C-A c.1573G>T p.G525C Missense 9/9 - 4
12-52881629-C-A c.1570G>T p.G524* Nonsense 9/9 - 1
12-52881632-C-A c.1567G>T p.V523F Missense 9/9 - 9
12-52881632-C-T c.1567G>A p.V523I Missense 9/9 - 8
12-52881633-G-A c.1566C>T p.G522= Synonymous 9/9 - 2
12-52881633-G-C c.1566C>G p.G522= Synonymous 9/9 - 1
12-52881633-G-T c.1566C>A p.G522= Synonymous 9/9 - 1
12-52881639-A-G c.1560T>C p.G520= Synonymous 9/9 - 1
12-52881639-A-T c.1560T>A p.G520= Synonymous 9/9 - 1
12-52881640-C-T c.1559G>A p.G520D Missense 9/9 - 2
12-52881641-C-T c.1558G>A p.G520S Missense 9/9 - 1
12-52881645-G-A c.1554C>T p.G518= Synonymous 9/9 - 1
12-52881645-G-C c.1554C>G p.G518= Synonymous 9/9 - 1
12-52881645-G-T c.1554C>A p.G518= Synonymous 9/9 - 1
12-52881647-C-G c.1552G>C p.G518R Missense 9/9 - 1
12-52881649-T-C c.1550A>G p.Y517C Missense 9/9 - 2
12-52881654-G-A c.1545C>T p.Y515= Synonymous 9/9 - 1
12-52881655-T-A c.1544A>T p.Y515F Missense 9/9 - 2
12-52881659-T-A c.1540A>T p.S514C Missense 9/9 - 3
12-52881662-T-C c.1537A>G p.S513G Missense 9/9 - 1
12-52881664-C-A c.1535G>T p.G512V Missense 9/9 - 1
12-52881664-C-T c.1535G>A p.G512E Missense 9/9 - 4
12-52881665-C-G c.1534G>C p.G512R Missense 9/9 - 1
12-52881665-C-T c.1534G>A p.G512R Missense 9/9 - 2
12-52881676-C-G c.1523G>C p.G508A Missense 9/9 - 1
12-52881687-G-GC c.1511dup p.S505Qfs*59 Frameshift 9/9 - 1
12-52881689-C-A c.1510G>T p.G504C Missense 9/9 - 1
12-52881690-G-A c.1509C>T p.V503= Synonymous 9/9 - 7
12-52881690-G-C c.1509C>G p.V503= Synonymous 9/9 - 2
12-52881690-G-T c.1509C>A p.V503= Synonymous 9/9 - 2
12-52881694-C-T c.1505G>A p.G502D Missense 9/9 - 1
12-52881696-A-G c.1503T>C p.S501= Synonymous 9/9 - 2
12-52881697-C-T c.1502G>A p.S501N Missense 9/9 - 3
12-52881700-G-T c.1499C>A p.A500D Missense 9/9 - 3
12-52881704-C-T c.1495G>A p.G499S Missense 9/9 - 2
12-52881705-G-A c.1494C>T p.G498= Synonymous 9/9 - 3
12-52881705-G-C c.1494C>G p.G498= Synonymous 9/9 - 2
12-52881705-G-T c.1494C>A p.G498= Synonymous 9/9 - 2
12-52881709-T-G c.1490A>C p.Y497S Missense 9/9 - 1
12-52881710-A-G c.1489T>C p.Y497H Missense 9/9 - 2
12-52881712-C-T c.1487G>A p.G496D Missense 9/9 - 1
12-52881720-G-C c.1479C>G p.V493= Synonymous 9/9 - 1
12-52881720-G-T c.1479C>A p.V493= Synonymous 9/9 - 1
12-52881722-C-T c.1477G>A p.V493I Missense 9/9 - 4
12-52881724-G-A c.1475C>T p.T492I Missense 9/9 - 1
12-52881727-G-A c.1472C>T p.S491F Missense 9/9 - 1
12-52881738-AG-TT c.1460_1461delinsAA p.S487* Nonsense 9/9 - 2
12-52881775-T-C c.1460-36A>G - IntronicSNV - 8/8 1
12-52881854-G-A c.1458C>T p.I486= Synonymous 8/9 - 1
12-52881859-T-A c.1453A>T p.N485Y Missense 8/9 - 1
12-52881862-C-T c.1450G>A p.V484I Missense 8/9 - 1
12-52881864-T-C c.1448A>G p.Q483R Missense 8/9 - 1
12-52881871-C-T c.1441G>A p.V481I Missense 8/9 - 5
12-52881872-G-A c.1440C>T p.G480= Synonymous 8/9 - 3
12-52881872-G-C c.1440C>G p.G480= Synonymous 8/9 - 2
12-52881872-G-T c.1440C>A p.G480= Synonymous 8/9 - 2
12-52881874-C-T c.1438G>A p.G480S Missense 8/9 - 1
12-52881877-C-T c.1435G>A p.E479K Missense 8/9 - 4
12-52881878-G-A c.1434C>T p.G478= Synonymous 8/9 - 4
12-52881878-G-C c.1434C>G p.G478= Synonymous 8/9 - 1
12-52881878-G-T c.1434C>A p.G478= Synonymous 8/9 - 3
12-52881881-A-T c.1431T>A p.N477K Missense 8/9 - 1
12-52881884-C-T c.1428G>A p.L476= Synonymous 8/9 - 3
12-52882094-T-C c.1424+18A>G - IntronicSNV - 7/8 2
12-52882094-T-G c.1424+18A>C - IntronicSNV - 7/8 3
12-52882117-C-A c.1419G>T p.E473D Missense 7/9 - 1
12-52882117-C-T c.1419G>A p.E473= Synonymous 7/9 - 2
12-52882120-C-G c.1416G>C p.E472D Missense 7/9 - 1
12-52882121-T-A c.1415A>T p.E472V Missense 7/9 - 1
12-52882121-T-C c.1415A>G p.E472G Missense 7/9 - 1
12-52882122-C-T c.1414G>A p.E472K Missense 7/9 - 6
12-52882123-A-G c.1413T>C p.G471= Synonymous 7/9 - 1
12-52882126-C-T c.1410G>A p.E470= Synonymous 7/9 - 3
12-52882127-T-C c.1409A>G p.E470G Missense 7/9 - 1
12-52882128-C-T c.1408G>A p.E470K Missense 7/9 - 1
12-52882130-A-C c.1406T>G p.L469R Missense 7/9 - 2
12-52882130-A-G c.1406T>C p.L469P Missense 7/9 - 2
12-52882139-C-A c.1397G>T p.R466L Missense 7/9 - 1
12-52882139-C-G c.1397G>C p.R466P Missense 7/9 - 1
12-52882139-C-T c.1397G>A p.R466H Missense 7/9 - 3
12-52882140-G-A c.1396C>T p.R466C Missense 7/9 - 1
12-52882141-G-A c.1395C>T p.Y465= Synonymous 7/9 - 1
12-52882143-A-G c.1393T>C p.Y465H Missense 7/9 - 4
12-52882146-T-G c.1390A>C p.T464P Missense 7/9 - 1
12-52882149-C-G c.1387G>C p.A463P Missense 7/9 - 2
12-52882149-C-T c.1387G>A p.A463T Missense 7/9 - 2
12-52882150-G-A c.1386C>T p.I462= Synonymous 7/9 - 6
12-52882150-GA-CT c.1385_1386delinsAG p.I462K Missense 7/9 - 1
12-52882150-G-T c.1386C>A p.I462= Synonymous 7/9 - 5
12-52882151-A-T c.1385T>A p.I462N Missense 7/9 - 4
12-52882151-AT-CC c.1384_1385delinsGG p.I462G Missense 7/9 - 1
12-52882155-C-A c.1381G>T p.E461* Nonsense 7/9 - 1
12-52882155-C-G c.1381G>C p.E461Q Missense 7/9 - 2
12-52882155-C-T c.1381G>A p.E461K Missense 7/9 - 2
12-52882158-C-T c.1378G>A p.V460M Missense 7/9 - 1
12-52882159-G-A c.1377C>T p.D459= Synonymous 7/9 - 1
12-52882162-C-A c.1374G>T p.L458= Synonymous 7/9 - 1
12-52882162-C-G c.1374G>C p.L458= Synonymous 7/9 - 1
12-52882162-C-T c.1374G>A p.L458= Synonymous 7/9 - 1
12-52882164-G-A c.1372C>T p.L458= Synonymous 7/9 - 1
12-52882167-C-A c.1369G>T p.A457S Missense 7/9 - 1
12-52882167-C-G c.1369G>C p.A457P Missense 7/9 - 1
12-52882167-C-T c.1369G>A p.A457T Missense 7/9 - 1
12-52882173-T-G c.1363A>C p.K455Q Missense 7/9 - 2
12-52882176-C-T c.1360G>A p.V454I Missense 7/9 - 1
12-52882180-C-A c.1356G>T p.M452I Missense 7/9 - 1
12-52882180-C-G c.1356G>C p.M452I Missense 7/9 - 1
12-52882180-C-T c.1356G>A p.M452I Missense 7/9 - 2
12-52882183-C-T c.1353G>A p.L451= Synonymous 7/9 - 1
12-52882191-G-A c.1345C>T p.Q449* Nonsense 7/9 - 2
12-52882193-T-G c.1343A>C p.Y448S Missense 7/9 - 1
12-52882199-T-C c.1337A>G p.K446R Missense 7/9 - 1
12-52882204-C-A c.1332G>T p.L444= Synonymous 7/9 - 2
12-52882204-C-G c.1332G>C p.L444= Synonymous 7/9 - 2
12-52882204-C-T c.1332G>A p.L444= Synonymous 7/9 - 3
12-52882206-G-A c.1330C>T p.L444= Synonymous 7/9 - 4
12-52882207-CC-AT c.1328_1329delinsAT p.R443H Missense 7/9 - 1
12-52882208-C-T c.1328G>A p.R443Q Missense 7/9 - 6
12-52882209-G-A c.1327C>T p.R443W Missense 7/9 - 5
12-52882216-G-A c.1320C>T p.D440= Synonymous 7/9 - 1
12-52882218-C-CA c.1317_1318insT p.D440* Nonsense 7/9 - 1
12-52882218-C-G c.1318G>C p.D440H Missense 7/9 - 2
12-52882217-T-TC c.1318dup p.D440Gfs*33 Frameshift 7/9 - 1
12-52882219-C-A c.1317G>T p.Q439H Missense 7/9 - 2
12-52882219-C-CT c.1316dup p.D440Gfs*33 Frameshift 7/9 - 1
12-52882220-T-C c.1316A>G p.Q439R Missense 7/9 - 1
12-52882226-G-A c.1310C>T p.A437V Missense 7/9 - 1
12-52882226-G-T c.1310C>A p.A437D Missense 7/9 - 1
12-52882228-C-T c.1308G>A p.K436= Synonymous 7/9 - 3
12-52882231-C-A c.1305G>T p.Q435H Missense 7/9 - 1
12-52882231-C-G c.1305G>C p.Q435H Missense 7/9 - 1
12-52882231-C-T c.1305G>A p.Q435= Synonymous 7/9 - 2
12-52882232-T-C c.1304A>G p.Q435R Missense 7/9 - 1
12-52882235-A-AG c.1300dup p.L434Pfs*39 Frameshift 7/9 - 1
12-52882238-G-A c.1298C>T p.A433V Missense 7/9 - 7
12-52882242-C-T c.1294G>A p.D432N Missense 7/9 - 1
12-52882246-C-A c.1290G>T p.L430= Synonymous 7/9 - 3
12-52882246-C-G c.1290G>C p.L430= Synonymous 7/9 - 1
12-52882246-C-T c.1290G>A p.L430= Synonymous 7/9 - 1
12-52882248-G-A c.1288C>T p.L430= Synonymous 7/9 - 1
12-52882250-C-A c.1286G>T p.G429V Missense 7/9 - 4
12-52882251-C-A c.1285G>T p.G429W Missense 7/9 - 1
12-52882251-C-G c.1285G>C p.G429R Missense 7/9 - 1
12-52882254-C-T c.1282G>A p.E428K Missense 7/9 - 1
12-52882255-C-T c.1281G>A p.L427= Synonymous 7/9 - 1
12-52882256-A-G c.1280T>C p.L427P Missense 7/9 - 1
12-52882258-C-A c.1278G>T p.K426N Missense 7/9 - 2
12-52882258-C-G c.1278G>C p.K426N Missense 7/9 - 2
12-52882261-G-A c.1275C>T p.N425= Synonymous 7/9 - 1
12-52882264-C-T c.1272G>A p.K424= Synonymous 7/9 - 4
12-52882269-C-T c.1267G>A p.A423T Missense 7/9 - 1
12-52882272-C-T c.1264G>A p.D422N Missense 7/9 - 1
12-52882276-G-T c.1260C>A p.L420= Synonymous 7/9 - 1
12-52882278-G-A c.1258C>T p.L420F Missense 7/9 - 3
12-52882287-C-T c.1249G>A p.E417K Missense 7/9 - 5
12-52882288-C-T c.1248G>A p.G416= Synonymous 7/9 - 2
12-52882289-C-A c.1247G>T p.G416V Missense 7/9 - 2
12-52882289-C-T c.1247G>A p.G416E Missense 7/9 - 1
12-52882292-C-A c.1244G>T p.R415L Missense 7/9 - 2
12-52882292-C-T c.1244G>A p.R415H Missense 7/9 - 7
12-52882295-T-G c.1241A>C p.Q414P Missense 7/9 - 1
12-52882299-C-G c.1237G>C p.E413Q Missense 7/9 - 1
12-52882306-A-G c.1230T>C p.A410= Synonymous 7/9 - 1
12-52882307-G-A c.1229C>T p.A410V Missense 7/9 - 1
12-52882309-A-T c.1227T>A p.I409= Synonymous 7/9 - 1
12-52882311-T-A c.1225A>T p.I409F Missense 7/9 - 1
12-52882313-G-A c.1223C>T p.A408V Missense 7/9 - 1
12-52882314-C-A c.1222G>T p.A408S Missense 7/9 - 3
12-52882314-C-T c.1222G>A p.A408T Missense 7/9 - 3
12-52882315-G-A c.1221C>T p.A407= Synonymous 7/9 - 1
12-52882315-G-C c.1221C>G p.A407= Synonymous 7/9 - 1
12-52882315-G-T c.1221C>A p.A407= Synonymous 7/9 - 1
12-52882316-G-A c.1220C>T p.A407V Missense 7/9 - 2
12-52882317-C-T c.1219G>A p.A407T Missense 7/9 - 1
12-52882327-G-A c.1209C>T p.A403= Synonymous 7/9 - 2
12-52882327-G-C c.1209C>G p.A403= Synonymous 7/9 - 1
12-52882327-G-T c.1209C>A p.A403= Synonymous 7/9 - 1
12-52882329-C-T c.1207G>A p.A403T Missense 7/9 - 2
12-52882330-G-A c.1206C>T p.C402= Synonymous 7/9 - 5
12-52882410-T-TAA c.1204-79_1204-78insTT - IntronicInsertion - 6/8 4
12-52882410-T-TGAA c.1204-81_1204-79dup - IntronicInsertion - 6/8 2
12-52882412-A-AAAG c.1204-81_1204-80insCTT - IntronicInsertion - 6/8 1
12-52882413-A-AAAG c.1204-82_1204-81insCTT - IntronicInsertion - 6/8 1
12-52882556-T-A c.1204-224A>T - IntronicSNV - 6/8 1
12-52882780-C-T c.1204-448G>A - IntronicSNV - 6/8 1
12-52882790-G-A c.1204-458C>T - IntronicSNV - 6/8 1
12-52882790-G-T c.1204-458C>A - IntronicSNV - 6/8 1
12-52882850-A-C c.1204-518T>G - IntronicSNV - 6/8 1
12-52882850-A-G c.1204-518T>C - IntronicSNV - 6/8 1
12-52883477-C-T c.1203+250G>A - IntronicSNV - 6/8 2
12-52883510-G-A c.1203+217C>T - IntronicSNV - 6/8 2
12-52883510-G-T c.1203+217C>A - IntronicSNV - 6/8 1
12-52883714-T-C c.1203+13A>G - IntronicSNV - 6/8 1
12-52883727-C-T c.1203G>A p.Q401= Synonymous 6/9 - 3
12-52883738-C-T c.1192G>A p.V398I Missense 6/9 - 1
12-52883744-C-T c.1186G>A p.D396N Missense 6/9 - 4
12-52883746-A-T c.1184T>A p.I395N Missense 6/9 - 1
12-52883750-C-A c.1180G>T p.E394* Nonsense 6/9 - 1
12-52883755-C-T c.1175G>A p.R392K Missense 6/9 - 4
12-52883757-C-A c.1173G>T p.L391= Synonymous 6/9 - 1
12-52883757-C-G c.1173G>C p.L391= Synonymous 6/9 - 1
12-52883757-C-T c.1173G>A p.L391= Synonymous 6/9 - 2
12-52883759-G-A c.1171C>T p.L391= Synonymous 6/9 - 1
12-52883761-C-G c.1169G>C p.R390T Missense 6/9 - 1
12-52883761-C-T c.1169G>A p.R390K Missense 6/9 - 1
12-52883763-C-T c.1167G>A p.Q389= Synonymous 6/9 - 1
12-52883764-T-C c.1166A>G p.Q389R Missense 6/9 - 4
12-52883769-C-A c.1161G>T p.M387I Missense 6/9 - 3
12-52883772-G-A c.1158C>T p.R386= Synonymous 6/9 - 1
12-52883774-G-A c.1156C>T p.R386C Missense 6/9 - 2
12-52883788-A-G c.1142T>C p.I381T Missense 6/9 - 1
12-52883799-G-T c.1131C>A p.T377= Synonymous 6/9 - 1
12-52883801-T-C c.1129A>G p.T377A Missense 6/9 - 1
12-52883807-G-A c.1123C>T p.R375C Missense 6/9 - 3
12-52883809-A-T c.1121T>A p.L374Q Missense 6/9 - 2
12-52883813-C-A c.1117G>T p.D373Y Missense 6/9 - 1
12-52883813-C-T c.1117G>A p.D373N Missense 6/9 - 1
12-52883814-G-A c.1116C>T p.D372= Synonymous 6/9 - 3
12-52883819-C-A c.1111G>T p.G371W Missense 6/9 - 1
12-52883823-TCT-ATG c.1105_1107delinsCAT p.R369H Missense 6/9 - 1
12-52883829-T-A c.1101A>T p.A367= Synonymous 6/9 - 1
12-52883829-T-C c.1101A>G p.A367= Synonymous 6/9 - 1
12-52883829-T-G c.1101A>C p.A367= Synonymous 6/9 - 1
12-52883832-T-A c.1098A>T p.T366= Synonymous 6/9 - 1
12-52883832-T-C c.1098A>G p.T366= Synonymous 6/9 - 1
12-52883832-T-G c.1098A>C p.T366= Synonymous 6/9 - 1
12-52883847-C-T c.1083G>A p.E361= Synonymous 6/9 - 1
12-52883849-C-G c.1081G>C p.E361Q Missense 6/9 - 1
12-52883849-C-T c.1081G>A p.E361K Missense 6/9 - 9
12-52883850-G-A c.1080C>T p.Y360= Synonymous 6/9 - 1
12-52883850-G-C c.1080C>G p.Y360* Nonsense 6/9 - 1
12-52883850-G-T c.1080C>A p.Y360* Nonsense 6/9 - 1
12-52883863-G-A c.1078-11C>T - IntronicSNV - 5/8 1
12-52883888-C-A c.1078-36G>T - IntronicSNV - 5/8 3
12-52883888-C-T c.1078-36G>A - IntronicSNV - 5/8 3
12-52883889-G-A c.1078-37C>T - IntronicSNV - 5/8 1
12-52883932-A-C c.1078-80T>G - IntronicSNV - 5/8 2
12-52883932-A-G c.1078-80T>C - IntronicSNV - 5/8 2
12-52883947-C-A c.1078-95G>T - IntronicSNV - 5/8 2
12-52884044-C-T c.1078-192G>A - IntronicSNV - 5/8 1
12-52884257-G-A c.1077+96C>T - IntronicSNV - 5/8 1
12-52884258-C-T c.1077+95G>A - IntronicSNV - 5/8 1
12-52884283-A-G c.1077+70T>C - IntronicSNV - 5/8 4
12-52884354-T-C c.1076A>G p.K359R Missense 5/9 - 1
12-52884359-C-T c.1071G>A p.Q357= Synonymous 5/9 - 1
12-52884362-G-A c.1068C>T p.Y356= Synonymous 5/9 - 1
12-52884373-C-G c.1057G>C p.E353Q Missense 5/9 - 1
12-52884373-C-T c.1057G>A p.E353K Missense 5/9 - 1
12-52884379-C-T c.1051G>A p.E351K Missense 5/9 - 2
12-52884384-C-A c.1046G>T p.R349L Missense 5/9 - 5
12-52884386-G-A c.1044C>T p.S348= Synonymous 5/9 - 1
12-52884386-G-C c.1044C>G p.S348R Missense 5/9 - 1
12-52884386-G-T c.1044C>A p.S348R Missense 5/9 - 1
12-52884388-T-G c.1042A>C p.S348R Missense 5/9 - 1
12-52884392-C-A c.1038G>T p.Q346H Missense 5/9 - 1
12-52884393-T-G c.1037A>C p.Q346P Missense 5/9 - 2
12-52884401-C-G c.1029G>C p.E343D Missense 5/9 - 2
12-52884403-C-T c.1027G>A p.E343K Missense 5/9 - 3
12-52884404-C-A c.1026G>T p.E342D Missense 5/9 - 2
12-52884404-C-T c.1026G>A p.E342= Synonymous 5/9 - 1
12-52884405-T-C c.1025A>G p.E342G Missense 5/9 - 1
12-52884407-A-G c.1023T>C p.Y341= Synonymous 5/9 - 4
12-52884410-T-C c.1020A>G p.Q340= Synonymous 5/9 - 1
12-52884411-T-C c.1019A>G p.Q340R Missense 5/9 - 2
12-52884412-G-T c.1018C>A p.Q340K Missense 5/9 - 1
12-52884414-G-C c.1016C>G p.A339G Missense 5/9 - 1
12-52884416-C-A c.1014G>T p.K338N Missense 5/9 - 2
12-52884416-C-G c.1014G>C p.K338N Missense 5/9 - 1
12-52884422-C-G c.1008G>C p.E336D Missense 5/9 - 1
12-52884422-C-T c.1008G>A p.E336= Synonymous 5/9 - 3
12-52884424-C-T c.1006G>A p.E336K Missense 5/9 - 2
12-52884425-A-C c.1005T>G p.A335= Synonymous 5/9 - 1
12-52884425-A-G c.1005T>C p.A335= Synonymous 5/9 - 1
12-52884425-A-T c.1005T>A p.A335= Synonymous 5/9 - 1
12-52884427-C-T c.1003G>A p.A335T Missense 5/9 - 3
12-52884428-G-A c.1002C>T p.I334= Synonymous 5/9 - 2
12-52884441-A-AT c.988_989insA p.L330Hfs*7 Frameshift 5/9 - 1
12-52884444-T-A c.986A>T p.D329V Missense 5/9 - 1
12-52884445-C-CAACAACCG c.984_985insCGGTTGTT p.D329Rfs*62 Frameshift 5/9 - 1
12-52884446-C-G c.984G>C p.L328= Synonymous 5/9 - 1
12-52884448-G-T c.982C>A p.L328M Missense 5/9 - 1
12-52884449-G-C c.981C>G p.N327K Missense 5/9 - 1
12-52884450-T-C c.980A>G p.N327S Missense 5/9 - 2
12-52884453-C-A c.977G>T p.R326L Missense 5/9 - 2
12-52884453-C-T c.977G>A p.R326H Missense 5/9 - 2
12-52884453-GCGGTTGTT-G c.970_977del p.N324Qfs*10 Frameshift 5/9 - 1
12-52884454-G-A c.976C>T p.R326C Missense 5/9 - 1
12-52884456-T-C c.974A>G p.N325S Missense 5/9 - 1
12-52884457-T-G c.973A>C p.N325H Missense 5/9 - 1
12-52884462-T-A c.968A>T p.D323V Missense 5/9 - 1
12-52884465-CA-C c.965del p.M322Rfs*66 Frameshift 5/9 - 1
12-52884468-G-A c.962C>T p.S321F Missense 5/9 - 1
12-52884470-C-A c.960G>T p.L320= Synonymous 5/9 - 1
12-52884470-C-G c.960G>C p.L320= Synonymous 5/9 - 1
12-52884470-C-T c.960G>A p.L320= Synonymous 5/9 - 1
12-52884472-G-A c.958C>T p.L320= Synonymous 5/9 - 1
12-52884472-G-T c.958C>A p.L320M Missense 5/9 - 1
12-52884473-C-G c.957G>C p.V319= Synonymous 5/9 - 1
12-52884475-C-T c.955G>A p.V319M Missense 5/9 - 1
12-52884480-GA-AT c.949_950delinsAT p.S317I Missense 5/9 - 1
12-52884488-T-A c.942A>T p.S314= Synonymous 5/9 - 1
12-52884488-T-C c.942A>G p.S314= Synonymous 5/9 - 1
12-52884488-T-G c.942A>C p.S314= Synonymous 5/9 - 1
12-52884491-G-A c.939C>T p.I313= Synonymous 5/9 - 2
12-52884491-G-T c.939C>A p.I313= Synonymous 5/9 - 2
12-52884496-G-T c.934C>A p.H312N Missense 5/9 - 1
12-52884503-C-A c.927G>T p.M309I Missense 5/9 - 1
12-52884503-C-G c.927G>C p.M309I Missense 5/9 - 1
12-52884503-C-T c.927G>A p.M309I Missense 5/9 - 1
12-52884506-C-A c.924G>T p.Q308H Missense 5/9 - 5
12-52884506-C-G c.924G>C p.Q308H Missense 5/9 - 3
12-52884509-G-A c.921C>T p.S307= Synonymous 5/9 - 2
12-52884509-G-C c.921C>G p.S307= Synonymous 5/9 - 1
12-52884509-G-T c.921C>A p.S307= Synonymous 5/9 - 1
12-52884514-G-T c.916C>A p.L306M Missense 5/9 - 3
12-52884515-C-A c.915G>T p.E305D Missense 5/9 - 4
12-52884515-C-G c.915G>C p.E305D Missense 5/9 - 2
12-52884517-C-G c.913G>C p.E305Q Missense 5/9 - 2
12-52884517-C-T c.913G>A p.E305K Missense 5/9 - 2
12-52884557-T-C c.913-40A>G - IntronicSNV - 4/8 6
12-52884583-C-A c.912+59G>T - IntronicSNV - 4/8 1
12-52884641-C-G c.912+1G>C - IntronicSNV - 4/8 1
12-52884643-G-C c.911C>G p.A304G Missense 4/9 - 1
12-52884647-C-T c.907G>A p.D303N Missense 4/9 - 1
12-52884653-A-G c.901T>C p.L301= Synonymous 4/9 - 1
12-52884658-C-T c.896G>A p.R299K Missense 4/9 - 5
12-52884660-C-A c.894G>T p.L298= Synonymous 4/9 - 1
12-52884660-C-G c.894G>C p.L298= Synonymous 4/9 - 1
12-52884660-C-T c.894G>A p.L298= Synonymous 4/9 - 1
12-52884662-G-A c.892C>T p.L298= Synonymous 4/9 - 1
12-52884661-A-G c.893T>C p.L298P Missense 4/9 - 2
12-52884663-G-A c.891C>T p.F297= Synonymous 4/9 - 2
12-52884674-C-T c.880G>A p.E294K Missense 4/9 - 6
12-52884675-G-A c.879C>T p.D293= Synonymous 4/9 - 1
12-52884681-G-A c.873C>T p.L291= Synonymous 4/9 - 1
12-52884685-G-A c.869C>T p.T290I Missense 4/9 - 1
12-52884686-T-C c.868A>G p.T290A Missense 4/9 - 1
12-52884692-C-T c.862G>A p.A288T Missense 4/9 - 3
12-52884693-C-T c.861G>A p.K287= Synonymous 4/9 - 1
12-52884696-G-A c.858C>T p.A286= Synonymous 4/9 - 1
12-52884696-G-C c.858C>G p.A286= Synonymous 4/9 - 1
12-52884696-G-T c.858C>A p.A286= Synonymous 4/9 - 1
12-52884697-G-C c.857C>G p.A286G Missense 4/9 - 4
12-52884703-A-G c.851T>C p.L284P Missense 4/9 - 1
12-52884707-C-T c.847G>A p.E283K Missense 4/9 - 1
12-52884708-A-C c.846T>G p.V282= Synonymous 4/9 - 2
12-52884708-A-G c.846T>C p.V282= Synonymous 4/9 - 2
12-52884708-A-T c.846T>A p.V282= Synonymous 4/9 - 2
12-52884709-A-C c.845T>G p.V282G Missense 4/9 - 4
12-52884711-C-G c.843G>C p.K281N Missense 4/9 - 1
12-52884717-C-A c.837G>T p.M279I Missense 4/9 - 2
12-52884717-C-G c.837G>C p.M279I Missense 4/9 - 1
12-52884717-C-T c.837G>A p.M279I Missense 4/9 - 3
12-52884720-G-A c.834C>T p.Y278= Synonymous 4/9 - 1
12-52884720-G-C c.834C>G p.Y278* Nonsense 4/9 - 1
12-52884725-C-A c.829G>T p.A277S Missense 4/9 - 1
12-52884727-G-A c.827C>T p.A276V Missense 4/9 - 1
12-52884728-C-A c.826G>T p.A276S Missense 4/9 - 1
12-52884731-C-A c.823G>T p.D275Y Missense 4/9 - 1
12-52884732-C-A c.822G>T p.V274= Synonymous 4/9 - 2
12-52884732-C-G c.822G>C p.V274= Synonymous 4/9 - 2
12-52884732-C-T c.822G>A p.V274= Synonymous 4/9 - 2
12-52884733-A-G c.821T>C p.V274A Missense 4/9 - 1
12-52884734-C-T c.820G>A p.V274M Missense 4/9 - 1
12-52884735-A-G c.819T>C p.D273= Synonymous 4/9 - 15
12-52884737-C-A c.817G>T p.D273Y Missense 4/9 - 1
12-52884843-A-G c.816+53T>C - IntronicSNV - 3/8 1
12-52884899-C-T c.813G>A p.K271= Synonymous 3/9 - 1
12-52884906-G-A c.806C>T p.T269I Missense 3/9 - 1
12-52884913-A-C c.799T>G p.F267V Missense 3/9 - 4
12-52884922-C-T c.790G>A p.E264K Missense 3/9 - 3
12-52884928-C-T c.784G>A p.A262T Missense 3/9 - 2
12-52884933-C-T c.779G>A p.R260H Missense 3/9 - 7
12-52884946-C-T c.766G>A p.E256K Missense 3/9 - 5
12-52884948-T-C c.764A>G p.D255G Missense 3/9 - 1
12-52884949-C-A c.763G>T p.D255Y Missense 3/9 - 1
12-52884955-A-G c.757T>C p.Y253H Missense 3/9 - 1
12-52885019-C-T c.756-63G>A - IntronicSNV - 2/8 3
12-52885190-C-T c.755+116G>A - IntronicSNV - 2/8 3
12-52885201-C-T c.755+105G>A - IntronicSNV - 2/8 5
12-52885222-A-C c.755+84T>G - IntronicSNV - 2/8 1
12-52885223-T-C c.755+83A>G - IntronicSNV - 2/8 1
12-52885227-C-A c.755+79G>T - IntronicSNV - 2/8 1
12-52885229-C-A c.755+77G>T - IntronicSNV - 2/8 1
12-52885231-T-A c.755+75A>T - IntronicSNV - 2/8 1
12-52885265-G-T c.755+41C>A - IntronicSNV - 2/8 1
12-52885284-C-T c.755+22G>A - IntronicSNV - 2/8 1
12-52885308-G-C c.753C>G p.N251K Missense 2/9 - 1
12-52885308-G-T c.753C>A p.N251K Missense 2/9 - 1
12-52885311-C-A c.750G>T p.K250N Missense 2/9 - 1
12-52885311-C-G c.750G>C p.K250N Missense 2/9 - 1
12-52885314-G-A c.747C>T p.F249= Synonymous 2/9 - 2
12-52885314-G-C c.747C>G p.F249L Missense 2/9 - 4
12-52885314-G-T c.747C>A p.F249L Missense 2/9 - 4
12-52885316-A-G c.745T>C p.F249L Missense 2/9 - 15
12-52885320-C-T c.741G>A p.E247= Synonymous 2/9 - 1
12-52885322-C-T c.739G>A p.E247K Missense 2/9 - 1
12-52885323-C-A c.738G>T p.V246= Synonymous 2/9 - 3
12-52885323-C-G c.738G>C p.V246= Synonymous 2/9 - 2
12-52885323-C-T c.738G>A p.V246= Synonymous 2/9 - 4
12-52885331-C-T c.730G>A p.D244N Missense 2/9 - 2
12-52885337-T-A c.724A>T p.M242L Missense 2/9 - 2
12-52885337-T-G c.724A>C p.M242L Missense 2/9 - 2
12-52885339-C-CTCTCT c.721_722insAGAGA p.G241Efs*30 Frameshift 2/9 - 1
12-52885339-C-T c.722G>A p.G241D Missense 2/9 - 10
12-52885340-C-A c.721G>T p.G241C Missense 2/9 - 2
12-52885340-C-T c.721G>A p.G241S Missense 2/9 - 9
12-52885342-C-T c.719G>A p.R240K Missense 2/9 - 1
12-52885344-G-A c.717C>T p.L239= Synonymous 2/9 - 6
12-52885344-G-C c.717C>G p.L239= Synonymous 2/9 - 6
12-52885344-G-GTCTGTCTCTCTCACTGTGTGTGTCTGTCTTCTGTCTT c.716_717insAAGACAGAAGACAGACACACACAGTGAGAGAGACAGA p.G241Qfs*26 Frameshift 2/9 - 1
12-52885346-G-A c.715C>T p.L239F Missense 2/9 - 1
12-52885350-T-C c.711A>G p.S237= Synonymous 2/9 - 6
12-52885355-C-T c.706G>A p.D236N Missense 2/9 - 1
12-52885360-C-T c.701G>A p.R234H Missense 2/9 - 2
12-52885361-G-A c.700C>T p.R234C Missense 2/9 - 2
12-52885365-CCG-ACA c.694_696delinsTGT p.R232C Missense 2/9 - 1
12-52885367-G-A c.694C>T p.R232W Missense 2/9 - 1
12-52885370-C-T c.691G>A p.E231K Missense 2/9 - 2
12-52885371-C-T c.690G>A p.G230= Synonymous 2/9 - 1
12-52885373-C-A c.688G>T p.G230W Missense 2/9 - 1
12-52885373-C-G c.688G>C p.G230R Missense 2/9 - 2
12-52885373-C-T c.688G>A p.G230R Missense 2/9 - 2
12-52885374-G-A c.687C>T p.V229= Synonymous 2/9 - 5
12-52885374-G-C c.687C>G p.V229= Synonymous 2/9 - 4
12-52885376-C-G c.685G>C p.V229L Missense 2/9 - 1
12-52885376-C-T c.685G>A p.V229I Missense 2/9 - 1
12-52885377-A-G c.684T>C p.I228= Synonymous 2/9 - 6
12-52885377-A-T c.684T>A p.I228= Synonymous 2/9 - 5
12-52885381-C-T c.680G>A p.S227N Missense 2/9 - 4
12-52885384-T-C c.677A>G p.D226G Missense 2/9 - 1
12-52885385-C-T c.676G>A p.D226N Missense 2/9 - 6
12-52885386-C-A c.675G>T p.L225= Synonymous 2/9 - 3
12-52885386-C-G c.675G>C p.L225= Synonymous 2/9 - 1
12-52885386-C-T c.675G>A p.L225= Synonymous 2/9 - 3
12-52885388-G-A c.673C>T p.L225= Synonymous 2/9 - 1
12-52885392-C-G c.669G>C p.R223S Missense 2/9 - 1
12-52885395-C-T c.666G>A p.R222= Synonymous 2/9 - 3
12-52885396-CT-AG c.664_665inv p.R222L Missense 2/9 - 1
12-52885400-G-A c.661C>T p.L221F Missense 2/9 - 3
12-52885400-G-T c.661C>A p.L221I Missense 2/9 - 2
12-52885403-T-C c.658A>G p.N220D Missense 2/9 - 1
12-52885415-G-A c.646C>T p.Q216* Nonsense 2/9 - 2
12-52885416-C-A c.645G>T p.E215D Missense 2/9 - 2
12-52885416-C-G c.645G>C p.E215D Missense 2/9 - 2
12-52885418-C-G c.643G>C p.E215Q Missense 2/9 - 4
12-52885418-C-T c.643G>A p.E215K Missense 2/9 - 2
12-52885419-G-A c.642C>T p.F214= Synonymous 2/9 - 3
12-52885425-C-A c.636G>T p.P212= Synonymous 2/9 - 4
12-52885425-C-G c.636G>C p.P212= Synonymous 2/9 - 2
12-52885425-C-T c.636G>A p.P212= Synonymous 2/9 - 3
12-52885426-G-A c.635C>T p.P212L Missense 2/9 - 1
12-52885427-G-A c.634C>T p.P212S Missense 2/9 - 1
12-52885430-C-T c.631G>A p.E211K Missense 2/9 - 1
12-52885433-G-C c.628C>G p.L210V Missense 2/9 - 2
12-52885433-G-T c.628C>A p.L210M Missense 2/9 - 6
12-52885434-G-T c.627C>A p.N209K Missense 2/9 - 1
12-52885441-C-T c.620G>A p.R207K Missense 2/9 - 1
12-52885442-T-A c.619A>T p.R207W Missense 2/9 - 3
12-52885443-C-T c.618G>A p.V206= Synonymous 2/9 - 2
12-52885445-C-T c.616G>A p.V206M Missense 2/9 - 1
12-52885449-C-T c.612G>A p.K204= Synonymous 2/9 - 1
12-52885450-T-G c.611A>C p.K204T Missense 2/9 - 2
12-52885452-G-A c.609C>T p.T203= Synonymous 2/9 - 1
12-52885452-G-C c.609C>G p.T203= Synonymous 2/9 - 1
12-52885452-G-T c.609C>A p.T203= Synonymous 2/9 - 2
12-52885455-G-T c.606C>A p.G202= Synonymous 2/9 - 1
12-52885459-T-A c.602A>T p.Q201L Missense 2/9 - 1
12-52885460-G-A c.601C>T p.Q201* Nonsense 2/9 - 1
12-52885460-G-C c.601C>G p.Q201E Missense 2/9 - 1
12-52885460-G-T c.601C>A p.Q201K Missense 2/9 - 1
12-52885463-C-G c.598G>C p.E200Q Missense 2/9 - 1
12-52885465-T-A c.596A>T p.Q199L Missense 2/9 - 1
12-52885471-A-G c.590T>C p.L197P Missense 2/9 - 2
12-52885472-G-A c.589C>T p.L197= Synonymous 2/9 - 1
12-52885472-G-T c.589C>A p.L197M Missense 2/9 - 1
12-52885474-G-A c.587C>T p.T196I Missense 2/9 - 1
12-52885476-C-A c.585G>T p.W195C Missense 2/9 - 2
12-52885476-C-G c.585G>C p.W195C Missense 2/9 - 2
12-52885476-C-T c.585G>A p.W195* Nonsense 2/9 - 3
12-52885477-C-A c.584G>T p.W195L Missense 2/9 - 5
12-52885477-C-T c.584G>A p.W195* Nonsense 2/9 - 4
12-52885482-T-A c.579A>T p.T193= Synonymous 2/9 - 1
12-52885482-T-C c.579A>G p.T193= Synonymous 2/9 - 2
12-52885482-T-G c.579A>C p.T193= Synonymous 2/9 - 2
12-52885485-T-A c.576A>T p.E192D Missense 2/9 - 2
12-52885485-T-C c.576A>G p.E192= Synonymous 2/9 - 2
12-52885485-T-G c.576A>C p.E192D Missense 2/9 - 4
12-52885487-C-T c.574G>A p.E192K Missense 2/9 - 3
12-52885488-C-G c.573G>C p.L191= Synonymous 2/9 - 1
12-52885489-A-T c.572T>A p.L191Q Missense 2/9 - 1
12-52885493-C-T c.568G>A p.V190I Missense 2/9 - 1
12-52885494-C-T c.567G>A p.K189= Synonymous 2/9 - 1
12-52885499-T-C c.562A>G p.N188D Missense 2/9 - 2
12-52885502-G-T c.559C>A p.Q187K Missense 2/9 - 1
12-52885502-GCTGCTCCAGGAACCGCAC-G c.541_558del p.V181_Q186del InFrameDeletion 2/9 1/8 1
12-52885512-G-A c.549C>T p.F183= Synonymous 2/9 - 3
12-52885513-A-G c.548T>C p.F183S Missense 2/9 - 2
12-52885516-C-T c.545G>A p.R182Q Missense 2/9 - 1
12-52885517-G-A c.544C>T p.R182W Missense 2/9 - 1
12-52885518-C-T c.543G>A p.V181= Synonymous 2/9 - 1
12-52885526-A-G c.541-6T>C - IntronicSNV - 1/8 1
12-52885543-A-G c.541-23T>C - IntronicSNV - 1/8 1
12-52886114-G-A c.540+319C>T - IntronicSNV - 1/8 2
12-52886360-C-T c.540+73G>A - IntronicSNV - 1/8 1
12-52886362-T-C c.540+71A>G - IntronicSNV - 1/8 1
12-52886396-C-A c.540+37G>T - IntronicSNV - 1/8 1
12-52886396-C-T c.540+37G>A - IntronicSNV - 1/8 2
12-52886408-C-G c.540+25G>C - IntronicSNV - 1/8 1
12-52886424-C-T c.540+9G>A - IntronicSNV - 1/8 4
12-52886439-G-A c.534C>T p.I178= Synonymous 1/9 - 5
12-52886439-G-T c.534C>A p.I178= Synonymous 1/9 - 3
12-52886441-TGAA-T c.529_531del p.F177del InFrameDeletion 1/9 - 1
12-52886447-A-G c.526T>C p.S176P Missense 1/9 - 1
12-52886449-G-A c.524C>T p.A175V Missense 1/9 - 1
12-52886450-C-A c.523G>T p.A175S Missense 1/9 - 1
12-52886452-A-C c.521T>G p.F174C Missense 1/9 - 1
12-52886452-A-G c.521T>C p.F174S Missense 1/9 - 2
12-52886451-A-C c.522T>G p.F174L Missense 1/9 - 1
12-52886451-A-T c.522T>A p.F174L Missense 1/9 - 1
12-52886453-A-C c.520T>G p.F174V Missense 1/9 - 3
12-52886453-A-G c.520T>C p.F174L Missense 1/9 - 2
12-52886453-A-T c.520T>A p.F174I Missense 1/9 - 2
12-52886454-C-T c.519G>A p.K173= Synonymous 1/9 - 1
12-52886456-T-C c.517A>G p.K173E Missense 1/9 - 1
12-52886458-T-A c.515A>T p.N172I Missense 1/9 - 1
12-52886460-G-C c.513C>G p.N171K Missense 1/9 - 8
12-52886460-G-T c.513C>A p.N171K Missense 1/9 - 13
12-52886454-CTTG-C c.516_518del p.N172del InFrameDeletion 1/9 - 7
12-52886461-T-C c.512A>G p.N171S Missense 1/9 - 3
12-52886461-T-G c.512A>C p.N171T Missense 1/9 - 1
12-52886462-T-A c.511A>T p.N171Y Missense 1/9 - 1
12-52886462-T-C c.511A>G p.N171D Missense 1/9 - 3
12-52886462-T-G c.511A>C p.N171H Missense 1/9 - 3
12-52886465-G-A c.508C>T p.L170F Missense 1/9 - 3
12-52886474-T-C c.499A>G p.I167V Missense 1/9 - 1
12-52886475-C-A c.498G>T p.Q166H Missense 1/9 - 1
12-52886475-C-G c.498G>C p.Q166H Missense 1/9 - 1
12-52886475-C-T c.498G>A p.Q166= Synonymous 1/9 - 1
12-52886477-G-A c.496C>T p.Q166* Nonsense 1/9 - 2
12-52886477-G-T c.496C>A p.Q166K Missense 1/9 - 1
12-52886478-T-C c.495A>G p.E165= Synonymous 1/9 - 13
12-52886480-C-T c.493G>A p.E165K Missense 1/9 - 3
12-52886483-G-A c.490C>T p.R164C Missense 1/9 - 1
12-52886486-C-T c.487G>A p.E163K Missense 1/9 - 1
12-52886490-A-C c.483T>G p.A161= Synonymous 1/9 - 3
12-52886490-A-G c.483T>C p.A161= Synonymous 1/9 - 23
12-52886490-A-T c.483T>A p.A161= Synonymous 1/9 - 21
12-52886491-G-T c.482C>A p.A161D Missense 1/9 - 1
12-52886494-C-T c.479G>A p.R160Q Missense 1/9 - 2
12-52886495-G-A c.478C>T p.R160W Missense 1/9 - 1
12-52886495-G-C c.478C>G p.R160G Missense 1/9 - 1
12-52886496-CAC-GAT c.475_477delinsATC p.V159I Missense 1/9 - 1
12-52886504-G-A c.469C>T p.Q157* Nonsense 1/9 - 1
12-52886509-G-A c.464C>T p.T155I Missense 1/9 - 1
12-52886513-G-A c.460C>T p.P154S Missense 1/9 - 1
12-52886513-G-C c.460C>G p.P154A Missense 1/9 - 5
12-52886515-T-A c.458A>T p.D153V Missense 1/9 - 1
12-52886516-C-T c.457G>A p.D153N Missense 1/9 - 6
12-52886517-G-A c.456C>T p.I152= Synonymous 1/9 - 1
12-52886525-G-A c.448C>T p.L150= Synonymous 1/9 - 4
12-52886527-T-C c.446A>G p.N149S Missense 1/9 - 1
12-52886531-G-A c.442C>T p.L148F Missense 1/9 - 1
12-52886532-G-A c.441C>T p.P147= Synonymous 1/9 - 1
12-52886533-G-C c.440C>G p.P147R Missense 1/9 - 4
12-52886532-GGGA-G c.438_440del p.P147del InFrameDeletion 1/9 - 1
12-52886534-G-C c.439C>G p.P147A Missense 1/9 - 1
12-52886541-G-A c.432C>T p.L144= Synonymous 1/9 - 2
12-52886543-G-A c.430C>T p.L144F Missense 1/9 - 2
12-52886545-C-T c.428G>A p.S143N Missense 1/9 - 2
12-52886547-C-G c.426G>C p.Q142H Missense 1/9 - 1
12-52886555-C-T c.418G>A p.V140I Missense 1/9 - 11
12-52886556-G-A c.417C>T p.T139= Synonymous 1/9 - 1
12-52886556-G-C c.417C>G p.T139= Synonymous 1/9 - 1
12-52886573-C-T c.400G>A p.G134S Missense 1/9 - 1
12-52886575-C-T c.398G>A p.G133E Missense 1/9 - 2
12-52886578-G-T c.395C>A p.P132H Missense 1/9 - 2
12-52886580-G-T c.393C>A p.P131= Synonymous 1/9 - 1
12-52886577-A-AG c.395dup p.G133Wfs*30 Frameshift 1/9 - 1
12-52886577-AG-A c.395del p.P132Lfs*14 Frameshift 1/9 - 3
12-52886591-G-A c.382C>T p.P128S Missense 1/9 - 4
12-52886595-G-A c.378C>T p.G126= Synonymous 1/9 - 1
12-52886595-G-C c.378C>G p.G126= Synonymous 1/9 - 1
12-52886595-G-T c.378C>A p.G126= Synonymous 1/9 - 1
12-52886598-A-C c.375T>G p.P125= Synonymous 1/9 - 1
12-52886598-A-G c.375T>C p.P125= Synonymous 1/9 - 1
12-52886598-A-T c.375T>A p.P125= Synonymous 1/9 - 1
12-52886599-G-A c.374C>T p.P125L Missense 1/9 - 2
12-52886600-G-A c.373C>T p.P125S Missense 1/9 - 2
12-52886606-C-G c.367G>C p.G123R Missense 1/9 - 1
12-52886608-A-G c.365T>C p.F122S Missense 1/9 - 1
12-52886608-A-T c.365T>A p.F122Y Missense 1/9 - 1
12-52886612-C-T c.361G>A p.G121S Missense 1/9 - 1
12-52886614-C-A c.359G>T p.G120V Missense 1/9 - 1
12-52886617-G-C c.356C>G p.A119G Missense 1/9 - 1
12-52886631-A-C c.342T>G p.G114= Synonymous 1/9 - 1
12-52886631-A-G c.342T>C p.G114= Synonymous 1/9 - 1
12-52886631-A-T c.342T>A p.G114= Synonymous 1/9 - 1
12-52886640-A-G c.333T>C p.G111= Synonymous 1/9 - 1
12-52886641-C-T c.332G>A p.G111D Missense 1/9 - 6
12-52886654-C-A c.319G>T p.G107C Missense 1/9 - 1
12-52886654-C-T c.319G>A p.G107S Missense 1/9 - 3
12-52886663-C-T c.310G>A p.G104S Missense 1/9 - 1
12-52886665-C-T c.308G>A p.G103D Missense 1/9 - 1
12-52886666-C-T c.307G>A p.G103S Missense 1/9 - 1
12-52886667-G-A c.306C>T p.F102= Synonymous 1/9 - 1
12-52886677-C-T c.296G>A p.G99E Missense 1/9 - 1
12-52886678-C-T c.295G>A p.G99R Missense 1/9 - 1
12-52886683-C-T c.290G>A p.G97E Missense 1/9 - 1
12-52886684-C-G c.289G>C p.G97R Missense 1/9 - 2
12-52886684-C-T c.289G>A p.G97R Missense 1/9 - 6
12-52886685-G-A c.288C>T p.A96= Synonymous 1/9 - 1
12-52886685-G-C c.288C>G p.A96= Synonymous 1/9 - 1
12-52886685-G-T c.288C>A p.A96= Synonymous 1/9 - 1
12-52886699-C-G c.274G>C p.G92R Missense 1/9 - 1
12-52886704-C-A c.269G>T p.S90I Missense 1/9 - 1
12-52886696-AGCCATAGCTGCCTCCGGCTCTGCT-A c.253_276del p.S85_G92del InFrameDeletion 1/9 - 1
12-52886709-T-A c.264A>T p.G88= Synonymous 1/9 - 1
12-52886709-T-C c.264A>G p.G88= Synonymous 1/9 - 1
12-52886709-T-G c.264A>C p.G88= Synonymous 1/9 - 1
12-52886711-C-G c.262G>C p.G88R Missense 1/9 - 2
12-52886711-C-T c.262G>A p.G88R Missense 1/9 - 3
12-52886718-G-C c.255C>G p.S85R Missense 1/9 - 1
12-52886718-G-T c.255C>A p.S85R Missense 1/9 - 1
12-52886720-T-G c.253A>C p.S85R Missense 1/9 - 1
12-52886729-C-T c.244G>A p.G82S Missense 1/9 - 2
12-52886733-A-T c.240T>A p.S80R Missense 1/9 - 1
12-52886734-C-A c.239G>T p.S80I Missense 1/9 - 1
12-52886739-G-T c.234C>A p.A78= Synonymous 1/9 - 1
12-52886740-G-A c.233C>T p.A78V Missense 1/9 - 1
12-52886740-G-C c.233C>G p.A78G Missense 1/9 - 1
12-52886741-C-T c.232G>A p.A78T Missense 1/9 - 1
12-52886745-G-A c.228C>T p.S76= Synonymous 1/9 - 1
12-52886749-C-T c.224G>A p.G75D Missense 1/9 - 1
12-52886753-C-G c.220G>C p.G74R Missense 1/9 - 1
12-52886761-G-A c.212C>T p.S71F Missense 1/9 - 1
12-52886772-G-A c.201C>T p.S67= Synonymous 1/9 - 1
12-52886772-G-C c.201C>G p.S67= Synonymous 1/9 - 1
12-52886772-G-T c.201C>A p.S67= Synonymous 1/9 - 1
12-52886775-G-A c.198C>T p.G66= Synonymous 1/9 - 1
12-52886775-G-C c.198C>G p.G66= Synonymous 1/9 - 1
12-52886775-G-T c.198C>A p.G66= Synonymous 1/9 - 1
12-52886777-C-T c.196G>A p.G66S Missense 1/9 - 2
12-52886793-A-G c.180T>C p.S60= Synonymous 1/9 - 1
12-52886794-C-A c.179G>T p.S60I Missense 1/9 - 1
12-52886798-G-T c.175C>A p.R59S Missense 1/9 - 1
12-52886806-A-C c.167T>G p.F56C Missense 1/9 - 1
12-52886806-A-T c.167T>A p.F56Y Missense 1/9 - 1
12-52886807-A-G c.166T>C p.F56L Missense 1/9 - 1
12-52886815-C-T c.158G>A p.G53E Missense 1/9 - 2
12-52886816-C-T c.157G>A p.G53R Missense 1/9 - 3
12-52886819-C-G c.154G>C p.G52R Missense 1/9 - 2
12-52886819-C-T c.154G>A p.G52R Missense 1/9 - 7
12-52886824-G-A c.149C>T p.A50V Missense 1/9 - 2
12-52886825-C-T c.148G>A p.A50T Missense 1/9 - 1
12-52886828-C-T c.145G>A p.G49S Missense 1/9 - 1
12-52886831-C-A c.142G>T p.G48C Missense 1/9 - 1
12-52886829-AC-A c.143del p.G48Vfs*98 Frameshift 1/9 - 1
12-52886832-C-A c.141G>T p.L47= Synonymous 1/9 - 1
12-52886832-C-G c.141G>C p.L47= Synonymous 1/9 - 1
12-52886837-C-G c.136G>C p.G46R Missense 1/9 - 1
12-52886838-A-C c.135T>G p.G45= Synonymous 1/9 - 1
12-52886838-A-G c.135T>C p.G45= Synonymous 1/9 - 1
12-52886838-A-T c.135T>A p.G45= Synonymous 1/9 - 1
12-52886839-C-T c.134G>A p.G45D Missense 1/9 - 1
12-52886840-C-A c.133G>T p.G45C Missense 1/9 - 1
12-52886842-CT-TC c.130_131delinsGA p.S44D Missense 1/9 - 1
12-52886843-T-A c.130A>T p.S44C Missense 1/9 - 1
12-52886854-C-T c.119G>A p.R40H Missense 1/9 - 1
12-52886857-G-C c.116C>G p.S39C Missense 1/9 - 1
12-52886860-A-C c.113T>G p.V38G Missense 1/9 - 1
12-52886862-G-A c.111C>T p.S37= Synonymous 1/9 - 3
12-52886862-G-C c.111C>G p.S37= Synonymous 1/9 - 2
12-52886862-G-T c.111C>A p.S37= Synonymous 1/9 - 2
12-52886863-G-A c.110C>T p.S37F Missense 1/9 - 5
12-52886863-G-T c.110C>A p.S37Y Missense 1/9 - 1
12-52886866-AC-CA c.106_107delinsTG p.V36C Missense 1/9 - 1
12-52886866-A-T c.107T>A p.V36D Missense 1/9 - 1
12-52886867-C-T c.106G>A p.V36I Missense 1/9 - 4
12-52886872-CT-GC c.100_101delinsGC p.S34A Missense 1/9 - 1
12-52886877-G-A c.96C>T p.G32= Synonymous 1/9 - 1
12-52886877-GCC-CCA c.94_96delinsTGG p.G32W Missense 1/9 - 1
12-52886881-G-C c.92C>G p.S31C Missense 1/9 - 4
12-52886884-C-T c.89G>A p.R30H Missense 1/9 - 2
12-52886887-C-T c.86G>A p.S29N Missense 1/9 - 1
12-52886887-CT-AA c.85_86delinsTT p.S29F Missense 1/9 - 1
12-52886887-CT-AG c.85_86inv p.S29L Missense 1/9 - 1
12-52886891-C-G c.82G>C p.V28L Missense 1/9 - 1
12-52886893-C-T c.80G>A p.G27E Missense 1/9 - 4
12-52886897-G-C c.76C>G p.P26A Missense 1/9 - 1
12-52886898-G-A c.75C>T p.L25= Synonymous 1/9 - 1
12-52886899-AG-CA c.73_74delinsTG p.L25C Missense 1/9 - 1
12-52886900-G-A c.73C>T p.L25F Missense 1/9 - 1
12-52886900-G-T c.73C>A p.L25I Missense 1/9 - 1
12-52886902-C-A c.71G>T p.R24M Missense 1/9 - 1
12-52886905-GC-TG c.67_68delinsCA p.A23H Missense 1/9 - 1
12-52886907-T-A c.66A>T p.S22= Synonymous 1/9 - 1
12-52886907-T-C c.66A>G p.S22= Synonymous 1/9 - 1
12-52886907-T-G c.66A>C p.S22= Synonymous 1/9 - 1
12-52886908-G-C c.65C>G p.S22* Nonsense 1/9 - 1
12-52886908-G-T c.65C>A p.S22* Nonsense 1/9 - 1
12-52886910-G-A c.63C>T p.N21= Synonymous 1/9 - 1
12-52886911-T-C c.62A>G p.N21S Missense 1/9 - 28
12-52886911-T-G c.62A>C p.N21T Missense 1/9 - 14
12-52886911-TT-CA c.61_62delinsTG p.N21C Missense 1/9 - 1
12-52886912-T-C c.61A>G p.N21D Missense 1/9 - 1
12-52886913-GGC-CCA c.58_60delinsTGG p.A20W Missense 1/9 - 1
12-52886913-GGC-TTG c.58_60delinsCAA p.A20Q Missense 1/9 - 1
12-52886914-GC-AA c.58_59delinsTT p.A20F Missense 1/9 - 1
12-52886914-GC-CG c.58_59delinsCG p.A20R Missense 1/9 - 1
12-52886914-GC-TT c.58_59delinsAA p.A20N Missense 1/9 - 1
12-52886914-G-T c.59C>A p.A20D Missense 1/9 - 1
12-52886915-C-A c.58G>T p.A20S Missense 1/9 - 1
12-52886915-C-G c.58G>C p.A20P Missense 1/9 - 1
12-52886915-C-T c.58G>A p.A20T Missense 1/9 - 1
12-52886916-A-G c.57T>C p.S19= Synonymous 1/9 - 2
12-52886920-A-T c.53T>A p.F18Y Missense 1/9 - 1
12-52886924-C-T c.49G>A p.G17S Missense 1/9 - 5
12-52886926-CG-AT c.46_47delinsAT p.R16M Missense 1/9 - 1
12-52886927-G-A c.46C>T p.R16W Missense 1/9 - 2
12-52886928-GCG-CAT c.43_45delinsATG p.R15M Missense 1/9 - 1
12-52886929-C-A c.44G>T p.R15L Missense 1/9 - 2
12-52886929-C-T c.44G>A p.R15H Missense 1/9 - 10
12-52886930-G-A c.43C>T p.R15C Missense 1/9 - 1
12-52886932-CT-GC c.40_41delinsGC p.S14A Missense 1/9 - 1
12-52886934-G-C c.39C>G p.S13R Missense 1/9 - 2
12-52886934-GC-CT c.38_39delinsAG p.S13K Missense 1/9 - 1
12-52886934-GCT-CTC c.37_39delinsGAG p.S13E Missense 1/9 - 1
12-52886934-G-T c.39C>A p.S13R Missense 1/9 - 2
12-52886936-T-G c.37A>C p.S13R Missense 1/9 - 2
12-52886935-C-A c.38G>T p.S13I Missense 1/9 - 1
12-52886935-CT-AA c.37_38delinsTT p.S13F Missense 1/9 - 1
12-52886935-CT-GC c.37_38delinsGC p.S13A Missense 1/9 - 2
12-52886935-CT-TC c.37_38delinsGA p.S13D Missense 1/9 - 1
12-52886935-CT-TG c.37_38delinsCA p.S13H Missense 1/9 - 1
12-52886936-T-A c.37A>T p.S13C Missense 1/9 - 1
12-52886937-G-A c.36C>T p.S12= Synonymous 1/9 - 1
12-52886940-G-A c.33C>T p.H11= Synonymous 1/9 - 1
12-52886942-G-A c.31C>T p.H11Y Missense 1/9 - 1
12-52886943-GCT-CTC c.28_30delinsGAG p.S10E Missense 1/9 - 1
12-52886944-C-T c.29G>A p.S10N Missense 1/9 - 1
12-52886944-CT-AA c.28_29delinsTT p.S10F Missense 1/9 - 1
12-52886944-CT-GC c.28_29delinsGC p.S10A Missense 1/9 - 2
12-52886944-CT-TC c.28_29delinsGA p.S10D Missense 1/9 - 2
12-52886945-T-A c.28A>T p.S10C Missense 1/9 - 1
12-52886949-G-A c.24C>T p.I8= Synonymous 1/9 - 2
12-52886952-G-A c.21C>T p.T7= Synonymous 1/9 - 1
12-52886954-T-G c.19A>C p.T7P Missense 1/9 - 1
12-52886964-G-A c.9C>T p.S3= Synonymous 1/9 - 1
12-52886966-T-C c.7A>G p.S3G Missense 1/9 - 1
12-52886967-G-A c.6C>T p.A2= Synonymous 1/9 - 1
12-52886967-G-C c.6C>G p.A2= Synonymous 1/9 - 1
12-52886967-G-T c.6C>A p.A2= Synonymous 1/9 - 2
12-52886968-G-A c.5C>T p.A2V Missense 1/9 - 1
12-52886969-C-A c.4G>T p.A2S Missense 1/9 - 1
12-52886970-C-T c.3G>A p.M1? Missense 1/9 - 1