CYP4A11

CYP4A11 cytochrome P450 family 4 subfamily A member 11

Annotation transcript: NM_000778.4

781 unique variant annotations were identified in 448 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
1-47395196-T-G c.*591A>C - 3-UTRSNV 12/12 - 1
1-47395198-G-GGCT c.*588_*589insAGC - 3-UTRInsertion 12/12 - 1
1-47395198-G-GGT c.*588_*589insAC - 3-UTRInsertion 12/12 - 1
1-47395198-G-GGGT c.*588_*589insACC - 3-UTRInsertion 12/12 - 1
1-47395229-T-C c.*558A>G - 3-UTRSNV 12/12 - 1
1-47395230-G-A c.*557C>T - 3-UTRSNV 12/12 - 1
1-47395347-T-A c.*440A>T - 3-UTRSNV 12/12 - 1
1-47395347-T-C c.*440A>G - 3-UTRSNV 12/12 - 1
1-47395347-T-G c.*440A>C - 3-UTRSNV 12/12 - 1
1-47395367-C-G c.*420G>C - 3-UTRSNV 12/12 - 1
1-47395367-C-T c.*420G>A - 3-UTRSNV 12/12 - 1
1-47395513-C-T c.*274G>A - 3-UTRSNV 12/12 - 4
1-47395718-A-G c.*69T>C - 3-UTRSNV 12/12 - 1
1-47395726-T-A c.*61A>T - 3-UTRSNV 12/12 - 4
1-47395788-C-A c.1559G>T p.*520Lext*10 Missense 12/12 - 4
1-47395788-C-G c.1559G>C p.*520Sext*10 Missense 12/12 - 1
1-47395796-G-A c.1551C>T p.D517= Synonymous 12/12 - 1
1-47395798-C-T c.1549G>A p.D517N Missense 12/12 - 2
1-47395803-T-A c.1544A>T p.D515V Missense 12/12 - 1
1-47395807-C-T c.1540G>A p.E514K Missense 12/12 - 4
1-47395809-C-G c.1538G>C p.C513S Missense 12/12 - 1
1-47395810-A-T c.1537T>A p.C513S Missense 12/12 - 1
1-47395812-G-A c.1535C>T p.P512L Missense 12/12 - 2
1-47395812-G-C c.1535C>G p.P512R Missense 12/12 - 1
1-47395814-G-C c.1533C>G p.N511K Missense 12/12 - 1
1-47395818-G-A c.1529C>T p.P510L Missense 12/12 - 5
1-47395822-G-A c.1525C>T p.L509F Missense 12/12 - 4
1-47395822-G-C c.1525C>G p.L509V Missense 12/12 - 1
1-47395822-G-T c.1525C>A p.L509I Missense 12/12 - 1
1-47395829-G-A c.1518C>T p.L506= Synonymous 12/12 - 2
1-47395829-G-C c.1518C>G p.L506= Synonymous 12/12 - 1
1-47395829-G-T c.1518C>A p.L506= Synonymous 12/12 - 1
1-47395831-G-A c.1516C>T p.L506F Missense 12/12 - 4
1-47395831-G-T c.1516C>A p.L506I Missense 12/12 - 1
1-47395833-C-T c.1514G>A p.R505H Missense 12/12 - 6
1-47395834-G-A c.1513C>T p.R505C Missense 12/12 - 5
1-47395838-G-T c.1509C>A p.H503Q Missense 12/12 - 1
1-47395841-G-A c.1506C>T p.I502= Synonymous 12/12 - 2
1-47395841-G-T c.1506C>A p.I502= Synonymous 12/12 - 2
1-47395845-C-T c.1502G>A p.G501E Missense 12/12 - 2
1-47395846-C-G c.1501G>C p.G501R Missense 12/12 - 2
1-47395846-C-T c.1501G>A p.G501R Missense 12/12 - 7
1-47395850-T-C c.1497A>G p.K499= Synonymous 12/12 - 1
1-47395851-T-G c.1496A>C p.K499T Missense 12/12 - 1
1-47395847-A-AT c.1499dup p.N500Kfs*12 Frameshift 12/12 - 1
1-47395853-G-A c.1494C>T p.S498= Synonymous 12/12 - 1
1-47395854-G-A c.1493C>T p.S498F Missense 12/12 - 3
1-47395859-C-A c.1488G>T p.L496F Missense 12/12 - 1
1-47395859-C-G c.1488G>C p.L496F Missense 12/12 - 1
1-47395862-C-T c.1485G>A p.V495= Synonymous 12/12 - 1
1-47395863-A-C c.1484T>G p.V495G Missense 12/12 - 1
1-47395869-C-T c.1478G>A p.R493Q Missense 12/12 - 4
1-47395874-A-C c.1473T>G p.I491M Missense 12/12 - 6
1-47395875-A-G c.1472T>C p.I491T Missense 12/12 - 3
1-47395878-G-A c.1469C>T p.P490L Missense 12/12 - 1
1-47395885-G-A c.1462C>T p.P488S Missense 12/12 - 1
1-47395886-G-A c.1461C>T p.I487= Synonymous 12/12 - 2
1-47395889-C-A c.1458G>T p.R486S Missense 12/12 - 1
1-47395889-C-G c.1458G>C p.R486S Missense 12/12 - 4
1-47395890-CT-AG c.1456_1457inv p.R486L Missense 12/12 - 1
1-47395895-G-A c.1452C>T p.P484= Synonymous 12/12 - 4
1-47395895-G-T c.1452C>A p.P484= Synonymous 12/12 - 1
1-47395896-G-A c.1451C>T p.P484L Missense 12/12 - 3
1-47395897-G-A c.1450C>T p.P484S Missense 12/12 - 1
1-47395898-A-G c.1449T>C p.D483= Synonymous 12/12 - 1
1-47395902-G-A c.1445C>T p.P482L Missense 12/12 - 1
1-47395905-A-C c.1442T>G p.L481R Missense 12/12 - 1
1-47395908-A-C c.1439T>G p.L480R Missense 12/12 - 1
1-47395912-C-G c.1435G>C p.E479Q Missense 12/12 - 3
1-47395917-C-T c.1430G>A p.R477H Missense 12/12 - 4
1-47395918-G-A c.1429C>T p.R477C Missense 12/12 - 4
1-47395919-G-A c.1428C>T p.L476= Synonymous 12/12 - 2
1-47395919-G-C c.1428C>G p.L476= Synonymous 12/12 - 2
1-47395919-G-T c.1428C>A p.L476= Synonymous 12/12 - 2
1-47395924-G-A c.1423C>T p.L475= Synonymous 12/12 - 1
1-47395926-G-C c.1421C>G p.T474S Missense 12/12 - 1
1-47395926-G-T c.1421C>A p.T474N Missense 12/12 - 1
1-47395928-C-G c.1419G>C p.L473= Synonymous 12/12 - 1
1-47395930-G-T c.1417C>A p.L473M Missense 12/12 - 2
1-47395931-G-A c.1416C>T p.A472= Synonymous 12/12 - 1
1-47395931-G-C c.1416C>G p.A472= Synonymous 12/12 - 1
1-47395931-G-T c.1416C>A p.A472= Synonymous 12/12 - 1
1-47395932-G-A c.1415C>T p.A472V Missense 12/12 - 1
1-47395933-C-T c.1414G>A p.A472T Missense 12/12 - 1
1-47395934-C-T c.1413G>A p.T471= Synonymous 12/12 - 4
1-47395937-G-T c.1410C>A p.A470= Synonymous 12/12 - 2
1-47395939-C-A c.1408G>T p.A470S Missense 12/12 - 1
1-47395946-C-G c.1401G>C p.L467= Synonymous 12/12 - 1
1-47395946-C-T c.1401G>A p.L467= Synonymous 12/12 - 3
1-47395947-A-C c.1400T>G p.L467R Missense 12/12 - 1
1-47395951-C-G c.1396G>C p.E466Q Missense 12/12 - 1
1-47395951-C-T c.1396G>A p.E466K Missense 12/12 - 4
1-47395952-G-A c.1395C>T p.N465= Synonymous 12/12 - 1
1-47395955-C-A c.1392G>T p.M464I Missense 12/12 - 2
1-47395955-C-G c.1392G>C p.M464I Missense 12/12 - 2
1-47395955-C-T c.1392G>A p.M464I Missense 12/12 - 3
1-47395956-A-G c.1391T>C p.M464T Missense 12/12 - 1
1-47395964-T-C c.1383A>G p.Q461= Synonymous 12/12 - 1
1-47395968-T-A c.1379A>T p.K460I Missense 12/12 - 5
1-47395972-C-CT c.1374_1375insA p.G459Rfs*21 Frameshift 12/12 - 1
1-47395972-C-T c.1375G>A p.G459R Missense 12/12 - 1
1-47395973-G-A c.1374C>T p.I458= Synonymous 12/12 - 21
1-47395973-G-C c.1374C>G p.I458M Missense 12/12 - 6
1-47395973-G-T c.1374C>A p.I458= Synonymous 12/12 - 3
1-47395974-A-C c.1373T>G p.I458S Missense 12/12 - 1
1-47395980-T-A c.1367A>T p.N456I Missense 12/12 - 1
1-47395982-C-G c.1365G>C p.R455S Missense 12/12 - 1
1-47396115-A-T c.1365-133T>A - IntronicSNV - 11/11 1
1-47396125-T-C c.1365-143A>G - IntronicSNV - 11/11 1
1-47396141-G-A c.1365-159C>T - IntronicSNV - 11/11 1
1-47396141-G-T c.1365-159C>A - IntronicSNV - 11/11 1
1-47396162-A-G c.1365-180T>C - IntronicSNV - 11/11 2
1-47396209-C-T c.1365-227G>A - IntronicSNV - 11/11 1
1-47396298-G-C c.1365-316C>G - IntronicSNV - 11/11 1
1-47396903-C-T c.1365-921G>A - IntronicSNV - 11/11 14
1-47398228-G-A c.1364+205C>T - IntronicSNV - 11/11 1
1-47398409-G-A c.1364+24C>T - IntronicSNV - 11/11 1
1-47398426-G-A c.1364+7C>T - IntronicSNV - 11/11 1
1-47398432-C-T c.1364+1G>A - IntronicSNV - 11/11 1
1-47398433-C-A c.1364G>T p.R455M Missense 11/12 - 1
1-47398436-G-A c.1361C>T p.S454L Missense 11/12 - 3
1-47398438-T-A c.1359A>T p.G453= Synonymous 11/12 - 1
1-47398438-T-C c.1359A>G p.G453= Synonymous 11/12 - 1
1-47398438-T-G c.1359A>C p.G453= Synonymous 11/12 - 1
1-47398439-C-T c.1358G>A p.G453E Missense 11/12 - 1
1-47398441-T-A c.1356A>T p.G452= Synonymous 11/12 - 1
1-47398441-T-C c.1356A>G p.G452= Synonymous 11/12 - 1
1-47398441-T-G c.1356A>C p.G452= Synonymous 11/12 - 1
1-47398442-C-T c.1355G>A p.G452E Missense 11/12 - 5
1-47398445-G-C c.1352C>G p.S451* Nonsense 11/12 - 2
1-47398445-G-T c.1352C>A p.S451* Nonsense 11/12 - 1
1-47398446-A-T c.1351T>A p.S451T Missense 11/12 - 1
1-47398447-G-A c.1350C>T p.F450= Synonymous 11/12 - 1
1-47398456-G-A c.1341C>T p.F447= Synonymous 11/12 - 2
1-47398459-A-T c.1338T>A p.A446= Synonymous 11/12 - 1
1-47398461-C-T c.1336G>A p.A446T Missense 11/12 - 7
1-47398465-G-A c.1332C>T p.S444= Synonymous 11/12 - 2
1-47398468-G-T c.1329C>A p.H443Q Missense 11/12 - 1
1-47398473-G-T c.1324C>A p.Q442K Missense 11/12 - 1
1-47398476-C-T c.1321G>A p.A441T Missense 11/12 - 1
1-47398478-G-A c.1319C>T p.S440F Missense 11/12 - 2
1-47398478-G-T c.1319C>A p.S440Y Missense 11/12 - 1
1-47398481-C-T c.1316G>A p.G439D Missense 11/12 - 5
1-47398482-C-T c.1315G>A p.G439S Missense 11/12 - 4
1-47398483-C-A c.1314G>T p.P438= Synonymous 11/12 - 1
1-47398483-C-G c.1314G>C p.P438= Synonymous 11/12 - 2
1-47398483-C-T c.1314G>A p.P438= Synonymous 11/12 - 3
1-47398484-G-A c.1313C>T p.P438L Missense 11/12 - 2
1-47398493-C-G c.1304G>C p.R435P Missense 11/12 - 1
1-47398493-C-T c.1304G>A p.R435H Missense 11/12 - 8
1-47398494-G-A c.1303C>T p.R435C Missense 11/12 - 2
1-47398494-G-T c.1303C>A p.R435S Missense 11/12 - 1
1-47398495-G-A c.1302C>T p.F434= Synonymous 11/12 - 2
1-47398496-A-G c.1301T>C p.F434S Missense 11/12 - 54
1-47398499-G-A c.1298C>T p.P433L Missense 11/12 - 1
1-47398499-G-C c.1298C>G p.P433R Missense 11/12 - 1
1-47398500-G-A c.1297C>T p.P433S Missense 11/12 - 2
1-47398505-A-G c.1292T>C p.F431S Missense 11/12 - 1
1-47398508-A-C c.1289T>G p.V430G Missense 11/12 - 1
1-47398508-A-T c.1289T>A p.V430E Missense 11/12 - 1
1-47398585-A-G c.1287+70T>C - IntronicSNV - 10/11 1
1-47398654-C-A c.1287+1G>T - IntronicSNV - 10/11 2
1-47398654-C-T c.1287+1G>A - IntronicSNV - 10/11 2
1-47398659-G-A c.1283C>T p.P428L Missense 10/12 - 2
1-47398661-G-C c.1281C>G p.N427K Missense 10/12 - 1
1-47398661-G-T c.1281C>A p.N427K Missense 10/12 - 2
1-47398678-G-A c.1264C>T p.P422S Missense 10/12 - 1
1-47398679-G-A c.1263C>T p.N421= Synonymous 10/12 - 1
1-47398680-T-C c.1262A>G p.N421S Missense 10/12 - 1
1-47398680-TTG-T c.1260_1261del p.H420Qfs*12 Frameshift 10/12 - 1
1-47398684-G-A c.1258C>T p.H420Y Missense 10/12 - 5
1-47398690-G-T c.1252C>A p.L418I Missense 10/12 - 1
1-47398693-C-T c.1249G>A p.G417S Missense 10/12 - 5
1-47398695-T-C c.1247A>G p.Y416C Missense 10/12 - 1
1-47398697-A-G c.1245T>C p.I415= Synonymous 10/12 - 1
1-47398697-A-T c.1245T>A p.I415= Synonymous 10/12 - 1
1-47398700-G-A c.1242C>T p.S414= Synonymous 10/12 - 2
1-47398701-G-A c.1241C>T p.S414F Missense 10/12 - 4
1-47398703-G-A c.1239C>T p.L413= Synonymous 10/12 - 1
1-47398703-G-C c.1239C>G p.L413= Synonymous 10/12 - 1
1-47398703-G-T c.1239C>A p.L413= Synonymous 10/12 - 1
1-47398705-G-A c.1237C>T p.L413F Missense 10/12 - 3
1-47398706-G-A c.1236C>T p.L412= Synonymous 10/12 - 1
1-47398706-G-C c.1236C>G p.L412= Synonymous 10/12 - 1
1-47398706-G-T c.1236C>A p.L412= Synonymous 10/12 - 1
1-47398709-G-A c.1233C>T p.V411= Synonymous 10/12 - 3
1-47398710-A-G c.1232T>C p.V411A Missense 10/12 - 1
1-47398713-A-G c.1229T>C p.M410T Missense 10/12 - 1
1-47398743-G-C c.1223-24C>G - IntronicSNV - 9/11 23
1-47398913-C-T c.1223-194G>A - IntronicSNV - 9/11 3
1-47399034-C-T c.1223-315G>A - IntronicSNV - 9/11 1
1-47399415-C-A c.1222+203G>T - IntronicSNV - 9/11 1
1-47399497-T-C c.1222+121A>G - IntronicSNV - 9/11 4
1-47399607-G-A c.1222+11C>T - IntronicSNV - 9/11 3
1-47399617-C-A c.1222+1G>T - IntronicSNV - 9/11 2
1-47399617-C-T c.1222+1G>A - IntronicSNV - 9/11 1
1-47399618-C-A c.1222G>T p.G408C Missense 9/12 - 1
1-47399618-C-T c.1222G>A p.G408S Missense 9/12 - 6
1-47399621-T-G c.1219A>C p.K407Q Missense 9/12 - 1
1-47399622-G-A c.1218C>T p.P406= Synonymous 9/12 - 1
1-47399622-G-C c.1218C>G p.P406= Synonymous 9/12 - 1
1-47399622-G-T c.1218C>A p.P406= Synonymous 9/12 - 1
1-47399623-G-A c.1217C>T p.P406L Missense 9/12 - 1
1-47399623-G-C c.1217C>G p.P406R Missense 9/12 - 1
1-47399624-G-T c.1216C>A p.P406T Missense 9/12 - 1
1-47399625-C-T c.1215G>A p.L405= Synonymous 9/12 - 1
1-47399628-G-A c.1212C>T p.S404= Synonymous 9/12 - 3
1-47399628-G-T c.1212C>A p.S404= Synonymous 9/12 - 1
1-47399629-G-A c.1211C>T p.S404F Missense 9/12 - 5
1-47399631-G-T c.1209C>A p.R403= Synonymous 9/12 - 1
1-47399632-C-T c.1208G>A p.R403H Missense 9/12 - 1
1-47399633-G-A c.1207C>T p.R403C Missense 9/12 - 1
1-47399634-CCC-GCT c.1204_1206delinsAGC p.G402S Missense 9/12 - 1
1-47399635-C-T c.1205G>A p.G402E Missense 9/12 - 2
1-47399641-G-C c.1199C>G p.P400R Missense 9/12 - 2
1-47399643-G-A c.1197C>T p.F399= Synonymous 9/12 - 5
1-47399652-G-A c.1188C>T p.P396= Synonymous 9/12 - 3
1-47399652-G-C c.1188C>G p.P396= Synonymous 9/12 - 2
1-47399652-G-T c.1188C>A p.P396= Synonymous 9/12 - 2
1-47399653-G-A c.1187C>T p.P396L Missense 9/12 - 4
1-47399654-G-A c.1186C>T p.P396S Missense 9/12 - 2
1-47399656-G-A c.1184C>T p.T395I Missense 9/12 - 1
1-47399659-C-T c.1181G>A p.S394N Missense 9/12 - 1
1-47399659-CT-AA c.1180_1181delinsTT p.S394F Missense 9/12 - 2
1-47399660-T-C c.1180A>G p.S394G Missense 9/12 - 5
1-47399661-G-A c.1179C>T p.L393= Synonymous 9/12 - 5
1-47399661-G-C c.1179C>G p.L393= Synonymous 9/12 - 2
1-47399661-G-T c.1179C>A p.L393= Synonymous 9/12 - 2
1-47399664-C-T c.1176G>A p.E392= Synonymous 9/12 - 3
1-47399666-C-G c.1174G>C p.E392Q Missense 9/12 - 1
1-47399668-C-G c.1172G>C p.R391T Missense 9/12 - 2
1-47399670-G-A c.1170C>T p.G390= Synonymous 9/12 - 3
1-47399670-G-C c.1170C>G p.G390= Synonymous 9/12 - 3
1-47399670-G-T c.1170C>A p.G390= Synonymous 9/12 - 5
1-47399673-A-G c.1167T>C p.I389= Synonymous 9/12 - 1
1-47399673-A-T c.1167T>A p.I389= Synonymous 9/12 - 1
1-47399684-C-T c.1156G>A p.V386M Missense 9/12 - 2
1-47399685-C-T c.1155G>A p.P385= Synonymous 9/12 - 1
1-47399686-G-A c.1154C>T p.P385L Missense 9/12 - 9
1-47399689-G-A c.1151C>T p.P384L Missense 9/12 - 1
1-47399690-G-T c.1150C>A p.P384T Missense 9/12 - 1
1-47399694-G-A c.1146C>T p.L382= Synonymous 9/12 - 1
1-47399695-A-G c.1145T>C p.L382P Missense 9/12 - 4
1-47399696-G-A c.1144C>T p.L382F Missense 9/12 - 2
1-47399697-C-G c.1143G>C p.R381S Missense 9/12 - 1
1-47399701-A-T c.1139T>A p.L380Q Missense 9/12 - 1
1-47399710-T-C c.1130A>G p.K377R Missense 9/12 - 1
1-47399711-T-A c.1129A>T p.K377* Nonsense 9/12 - 1
1-47399716-C-G c.1124G>C p.C375S Missense 9/12 - 1
1-47399717-A-T c.1123T>A p.C375S Missense 9/12 - 1
1-47399721-G-A c.1119C>T p.T373= Synonymous 9/12 - 2
1-47399721-G-C c.1119C>G p.T373= Synonymous 9/12 - 2
1-47399721-G-T c.1119C>A p.T373= Synonymous 9/12 - 2
1-47399725-G-A c.1115C>T p.T372I Missense 9/12 - 1
1-47399745-G-A c.1095C>T p.H365= Synonymous 9/12 - 1
1-47399747-G-A c.1093C>T p.H365Y Missense 9/12 - 1
1-47399750-T-C c.1090A>G p.N364D Missense 9/12 - 1
1-47399751-C-T c.1089G>A p.W363* Nonsense 9/12 - 3
1-47399810-A-G c.1088+38T>C - IntronicSNV - 8/11 1
1-47399824-C-G c.1088+24G>C - IntronicSNV - 8/11 1
1-47399836-G-A c.1088+12C>T - IntronicSNV - 8/11 1
1-47399848-C-T c.1088G>A p.W363* Nonsense 8/12 - 1
1-47399851-G-C c.1085C>G p.T362S Missense 8/12 - 1
1-47399857-G-A c.1079C>T p.S360F Missense 8/12 - 3
1-47399858-A-T c.1078T>A p.S360T Missense 8/12 - 1
1-47399860-G-C c.1076C>G p.A359G Missense 8/12 - 1
1-47399861-C-A c.1075G>T p.A359S Missense 8/12 - 1
1-47399861-C-T c.1075G>A p.A359T Missense 8/12 - 7
1-47399865-A-G c.1071T>C p.D357= Synonymous 8/12 - 1
1-47399867-C-T c.1069G>A p.D357N Missense 8/12 - 2
1-47399868-A-C c.1068T>G p.G356= Synonymous 8/12 - 1
1-47399868-A-G c.1068T>C p.G356= Synonymous 8/12 - 1
1-47399868-A-T c.1068T>A p.G356= Synonymous 8/12 - 1
1-47399869-C-G c.1067G>C p.G356A Missense 8/12 - 1
1-47399869-C-T c.1067G>A p.G356D Missense 8/12 - 2
1-47399870-C-A c.1066G>T p.G356C Missense 8/12 - 2
1-47399870-C-G c.1066G>C p.G356R Missense 8/12 - 1
1-47399870-C-T c.1066G>A p.G356S Missense 8/12 - 3
1-47399872-A-G c.1064T>C p.L355P Missense 8/12 - 1
1-47399879-T-C c.1057A>G p.S353G Missense 8/12 - 5
1-47399880-G-A c.1056C>T p.H352= Synonymous 8/12 - 1
1-47399880-G-C c.1056C>G p.H352Q Missense 8/12 - 1
1-47399880-G-T c.1056C>A p.H352Q Missense 8/12 - 1
1-47399883-G-A c.1053C>T p.I351= Synonymous 8/12 - 2
1-47399885-T-C c.1051A>G p.I351V Missense 8/12 - 1
1-47399886-C-A c.1050G>T p.E350D Missense 8/12 - 1
1-47399886-C-G c.1050G>C p.E350D Missense 8/12 - 1
1-47399888-C-T c.1048G>A p.E350K Missense 8/12 - 4
1-47399892-C-T c.1044G>A p.R348= Synonymous 8/12 - 1
1-47399893-C-A c.1043G>T p.R348L Missense 8/12 - 1
1-47399893-C-G c.1043G>C p.R348P Missense 8/12 - 1
1-47399893-C-T c.1043G>A p.R348Q Missense 8/12 - 1
1-47399894-G-A c.1042C>T p.R348W Missense 8/12 - 1
1-47399896-C-T c.1040G>A p.C347Y Missense 8/12 - 3
1-47399896-C-G c.1040G>C p.C347S Missense 8/12 - 1
1-47399897-A-T c.1039T>A p.C347S Missense 8/12 - 1
1-47399898-CCT-ACA c.1036_1038delinsTGT p.R346C Missense 8/12 - 1
1-47399902-T-A c.1034A>T p.E345V Missense 8/12 - 1
1-47399903-C-G c.1033G>C p.E345Q Missense 8/12 - 1
1-47399906-G-T c.1030C>A p.Q344K Missense 8/12 - 1
1-47399909-G-A c.1027C>T p.H343Y Missense 8/12 - 1
1-47399910-C-G c.1026G>C p.K342N Missense 8/12 - 1
1-47399910-C-T c.1026G>A p.K342= Synonymous 8/12 - 1
1-47399912-T-C c.1024A>G p.K342E Missense 8/12 - 1
1-47399915-G-T c.1021C>A p.P341T Missense 8/12 - 1
1-47399921-T-C c.1015A>G p.T339A Missense 8/12 - 1
1-47399923-G-C c.1013C>G p.A338G Missense 8/12 - 1
1-47399923-G-T c.1013C>A p.A338D Missense 8/12 - 1
1-47399928-A-C c.1008T>G p.A336= Synonymous 8/12 - 4
1-47399928-A-G c.1008T>C p.A336= Synonymous 8/12 - 4
1-47399928-A-T c.1008T>A p.A336= Synonymous 8/12 - 4
1-47399930-C-A c.1006G>T p.A336S Missense 8/12 - 1
1-47399932-T-A c.1004A>T p.Y335F Missense 8/12 - 1
1-47399936-G-A c.1000C>T p.L334F Missense 8/12 - 2
1-47399937-G-A c.999C>T p.I333= Synonymous 8/12 - 2
1-47399937-G-C c.999C>G p.I333M Missense 8/12 - 2
1-47399944-G-A c.992C>T p.S331F Missense 8/12 - 3
1-47399946-G-A c.990C>T p.I330= Synonymous 8/12 - 1
1-47399948-T-C c.988A>G p.I330V Missense 8/12 - 1
1-47399951-C-T c.985G>A p.G329R Missense 8/12 - 2
1-47399956-G-C c.980C>G p.A327G Missense 8/12 - 1
1-47399959-G-A c.977C>T p.T326I Missense 8/12 - 2
1-47399966-C-T c.970G>A p.D324N Missense 8/12 - 1
1-47399967-G-A c.969C>T p.H323= Synonymous 8/12 - 8
1-47399967-G-T c.969C>A p.H323Q Missense 8/12 - 2
1-47399975-C-G c.961G>C p.E321Q Missense 8/12 - 1
1-47399985-C-G c.951G>C p.T317= Synonymous 8/12 - 1
1-47399985-C-T c.951G>A p.T317= Synonymous 8/12 - 1
1-47399987-T-A c.949A>T p.T317S Missense 8/12 - 1
1-47399987-T-C c.949A>G p.T317A Missense 8/12 - 1
1-47399994-C-T c.942G>A p.E314= Synonymous 8/12 - 2
1-47399996-C-G c.940G>C p.E314Q Missense 8/12 - 1
1-47399996-C-T c.940G>A p.E314K Missense 8/12 - 2
1-47399996-TC-T c.940del p.E314Rfs*67 Frameshift 8/12 - 1
1-47399998-G-C c.938C>G p.A313G Missense 8/12 - 1
1-47400000-ACG-TCA c.934_936delinsTGA p.R312* Nonsense 8/12 - 1
1-47400001-C-T c.935G>A p.R312H Missense 8/12 - 1
1-47400002-G-A c.934C>T p.R312C Missense 8/12 - 1
1-47400003-G-A c.933C>T p.L311= Synonymous 8/12 - 1
1-47400005-G-T c.931C>A p.L311I Missense 8/12 - 1
1-47400008-C-T c.928G>A p.D310N Missense 8/12 - 5
1-47400009-C-T c.927G>A p.K309= Synonymous 8/12 - 3
1-47400018-C-A c.918G>T p.L306F Missense 8/12 - 1
1-47400021-G-A c.915C>T p.I305= Synonymous 8/12 - 3
1-47400021-G-T c.915C>A p.I305= Synonymous 8/12 - 1
1-47400023-T-C c.913A>G p.I305V Missense 8/12 - 1
1-47400027-C-T c.909G>A p.G303= Synonymous 8/12 - 2
1-47400029-C-T c.907G>A p.G303R Missense 8/12 - 1
1-47400033-C-A c.903G>T p.E301D Missense 8/12 - 1
1-47400033-C-T c.903G>A p.E301= Synonymous 8/12 - 1
1-47400035-C-T c.901G>A p.E301K Missense 8/12 - 5
1-47400059-A-G c.898-21T>C - IntronicSNV - 7/11 7
1-47400127-T-C c.895A>G p.K299E Missense 7/12 - 1
1-47400128-GG-CT c.893_894delinsAG p.A298E Missense 7/12 - 1
1-47400130-C-G c.892G>C p.A298P Missense 7/12 - 4
1-47400130-C-T c.892G>A p.A298T Missense 7/12 - 1
1-47400132-A-C c.890T>G p.L297W Missense 7/12 - 1
1-47400132-A-G c.890T>C p.L297S Missense 7/12 - 2
1-47400143-A-G c.879T>C p.D293= Synonymous 7/12 - 1
1-47400148-G-A c.874C>T p.L292= Synonymous 7/12 - 1
1-47400154-C-T c.868G>A p.D290N Missense 7/12 - 3
1-47400158-A-G c.864T>C p.H288= Synonymous 7/12 - 1
1-47400162-CT-TG c.859_860delinsCA p.R287Q Missense 7/12 - 2
1-47400164-C-G c.858G>C p.K286N Missense 7/12 - 1
1-47400167-C-T c.855G>A p.R285= Synonymous 7/12 - 2
1-47400168-C-T c.854G>A p.R285K Missense 7/12 - 2
1-47400170-C-A c.852G>T p.K284N Missense 7/12 - 1
1-47400170-C-G c.852G>C p.K284N Missense 7/12 - 2
1-47400170-C-T c.852G>A p.K284= Synonymous 7/12 - 1
1-47400173-G-A c.849C>T p.I283= Synonymous 7/12 - 3
1-47400175-T-G c.847A>C p.I283L Missense 7/12 - 1
1-47400176-C-A c.846G>T p.K282N Missense 7/12 - 1
1-47400176-C-G c.846G>C p.K282N Missense 7/12 - 1
1-47400182-C-A c.840G>T p.L280= Synonymous 7/12 - 2
1-47400182-C-G c.840G>C p.L280= Synonymous 7/12 - 2
1-47400182-C-T c.840G>A p.L280= Synonymous 7/12 - 5
1-47400184-G-A c.838C>T p.L280= Synonymous 7/12 - 2
1-47400187-C-T c.835G>A p.E279K Missense 7/12 - 2
1-47400188-C-A c.834G>T p.G278= Synonymous 7/12 - 1
1-47400188-C-G c.834G>C p.G278= Synonymous 7/12 - 1
1-47400188-C-T c.834G>A p.G278= Synonymous 7/12 - 1
1-47400189-C-A c.833G>T p.G278V Missense 7/12 - 1
1-47400189-C-T c.833G>A p.G278E Missense 7/12 - 3
1-47400190-C-G c.832G>C p.G278R Missense 7/12 - 2
1-47400190-C-T c.832G>A p.G278R Missense 7/12 - 3
1-47400191-C-T c.831G>A p.E277= Synonymous 7/12 - 1
1-47400192-T-A c.830A>T p.E277V Missense 7/12 - 2
1-47400193-C-T c.829G>A p.E277K Missense 7/12 - 6
1-47400195-T-G c.827A>C p.K276T Missense 7/12 - 3
1-47400197-C-A c.825G>T p.Q275H Missense 7/12 - 2
1-47400197-C-G c.825G>C p.Q275H Missense 7/12 - 2
1-47400197-C-T c.825G>A p.Q275= Synonymous 7/12 - 1
1-47400206-A-G c.816T>C p.A272= Synonymous 7/12 - 1
1-47400208-C-T c.814G>A p.A272T Missense 7/12 - 2
1-47400212-C-T c.810G>A p.R270= Synonymous 7/12 - 1
1-47400213-C-T c.809G>A p.R270K Missense 7/12 - 1
1-47400221-G-C c.801C>G p.I267M Missense 7/12 - 1
1-47400223-T-G c.799A>C p.I267L Missense 7/12 - 1
1-47400224-C-T c.798G>A p.V266= Synonymous 7/12 - 2
1-47400228-T-C c.794A>G p.Q265R Missense 7/12 - 2
1-47400671-C-A c.790+1G>T - IntronicSNV - 6/11 1
1-47400672-C-T c.790G>A p.D264N Missense 6/12 - 1
1-47400675-T-C c.787A>G p.T263A Missense 6/12 - 1
1-47400677-T-G c.785A>C p.H262P Missense 6/12 - 2
1-47400679-C-T c.783G>A p.Q261= Synonymous 6/12 - 1
1-47400681-G-A c.781C>T p.Q261* Nonsense 6/12 - 1
1-47400681-G-C c.781C>G p.Q261E Missense 6/12 - 1
1-47400683-T-C c.779A>G p.H260R Missense 6/12 - 1
1-47400685-G-A c.777C>T p.A259= Synonymous 6/12 - 3
1-47400685-G-C c.777C>G p.A259= Synonymous 6/12 - 2
1-47400685-G-T c.777C>A p.A259= Synonymous 6/12 - 2
1-47400691-C-T c.771G>A p.Q257= Synonymous 6/12 - 2
1-47400693-G-A c.769C>T p.Q257* Nonsense 6/12 - 2
1-47400700-G-A c.762C>T p.R254= Synonymous 6/12 - 1
1-47400700-G-C c.762C>G p.R254= Synonymous 6/12 - 1
1-47400700-G-T c.762C>A p.R254= Synonymous 6/12 - 1
1-47400702-G-A c.760C>T p.R254C Missense 6/12 - 2
1-47400703-G-A c.759C>T p.H253= Synonymous 6/12 - 1
1-47400704-T-G c.758A>C p.H253P Missense 6/12 - 1
1-47400713-C-A c.749G>T p.R250L Missense 6/12 - 2
1-47400715-G-A c.747C>T p.G249= Synonymous 6/12 - 1
1-47400715-G-C c.747C>G p.G249= Synonymous 6/12 - 1
1-47400715-G-T c.747C>A p.G249= Synonymous 6/12 - 1
1-47400714-GGCCA-G c.744_747del p.G249Afs*17 Frameshift 6/12 - 1
1-47400720-C-A c.742G>T p.A248S Missense 6/12 - 1
1-47400724-G-A c.738C>T p.T246= Synonymous 6/12 - 1
1-47400724-G-C c.738C>G p.T246= Synonymous 6/12 - 1
1-47400724-G-T c.738C>A p.T246= Synonymous 6/12 - 1
1-47400725-G-A c.737C>T p.T246I Missense 6/12 - 1
1-47400727-C-A c.735G>T p.L245= Synonymous 6/12 - 1
1-47400727-C-G c.735G>C p.L245= Synonymous 6/12 - 1
1-47400727-C-T c.735G>A p.L245= Synonymous 6/12 - 1
1-47400729-G-A c.733C>T p.L245= Synonymous 6/12 - 1
1-47400731-C-T c.731G>A p.S244N Missense 6/12 - 1
1-47400735-A-G c.727T>C p.Y243H Missense 6/12 - 1
1-47400739-G-A c.723C>T p.T241= Synonymous 6/12 - 3
1-47400744-C-T c.718G>A p.D240N Missense 6/12 - 2
1-47400750-G-C c.712C>G p.Q238E Missense 6/12 - 1
1-47400751-G-C c.711C>G p.H237Q Missense 6/12 - 1
1-47400753-G-A c.709C>T p.H237Y Missense 6/12 - 4
1-47400757-G-T c.705C>A p.A235= Synonymous 6/12 - 1
1-47400760-A-C c.702T>G p.N234K Missense 6/12 - 3
1-47400760-A-T c.702T>A p.N234K Missense 6/12 - 2
1-47400767-A-G c.695T>C p.V232A Missense 6/12 - 1
1-47400771-G-A c.691C>T p.R231C Missense 6/12 - 2
1-47400771-G-T c.691C>A p.R231S Missense 6/12 - 1
1-47400773-G-GA c.688dup p.S230Ffs*11 Frameshift 6/12 - 1
1-47400779-A-C c.683T>G p.V228G Missense 6/12 - 1
1-47400779-A-G c.683T>C p.V228A Missense 6/12 - 1
1-47400780-C-A c.682G>T p.V228F Missense 6/12 - 7
1-47400780-C-T c.682G>A p.V228I Missense 6/12 - 1
1-47400781-C-A c.681G>T p.L227= Synonymous 6/12 - 1
1-47400781-C-G c.681G>C p.L227= Synonymous 6/12 - 1
1-47400781-C-T c.681G>A p.L227= Synonymous 6/12 - 1
1-47400783-G-A c.679C>T p.L227= Synonymous 6/12 - 1
1-47400785-T-C c.677A>G p.N226S Missense 6/12 - 6
1-47400791-A-G c.671T>C p.L224P Missense 6/12 - 1
1-47400792-G-T c.670C>A p.L224M Missense 6/12 - 2
1-47400797-C-G c.665G>C p.S222T Missense 6/12 - 1
1-47400805-C-G c.657G>C p.Q219H Missense 6/12 - 1
1-47400807-G-GT c.654dup p.Q219Tfs*4 Frameshift 6/12 - 1
1-47400819-G-C c.643C>G p.Q215E Missense 6/12 - 8
1-47400823-A-C c.639T>G p.N213K Missense 6/12 - 1
1-47400823-A-T c.639T>A p.N213K Missense 6/12 - 1
1-47400826-C-T c.636G>A p.R212= Synonymous 6/12 - 4
1-47401023-T-C c.635+172A>G - IntronicSNV - 5/11 2
1-47401202-C-A c.628G>T p.V210L Missense 5/12 - 2
1-47401202-C-G c.628G>C p.V210L Missense 5/12 - 2
1-47401203-C-T c.627G>A p.Q209= Synonymous 5/12 - 3
1-47401205-G-A c.625C>T p.Q209* Nonsense 5/12 - 1
1-47401206-G-A c.624C>T p.I208= Synonymous 5/12 - 1
1-47401210-C-T c.620G>A p.S207N Missense 5/12 - 4
1-47401217-G-C c.613C>G p.Q205E Missense 5/12 - 1
1-47401219-T-G c.611A>C p.H204P Missense 5/12 - 5
1-47401222-CT-AA c.607_608delinsTT p.S203F Missense 5/12 - 1
1-47401224-G-A c.606C>T p.F202= Synonymous 5/12 - 2
1-47401224-G-C c.606C>G p.F202L Missense 5/12 - 2
1-47401224-G-T c.606C>A p.F202L Missense 5/12 - 1
1-47401226-A-G c.604T>C p.F202L Missense 5/12 - 1
1-47401228-G-A c.602C>T p.A201V Missense 5/12 - 1
1-47401229-C-A c.601G>T p.A201S Missense 5/12 - 1
1-47401231-C-G c.599G>C p.C200S Missense 5/12 - 2
1-47401232-A-T c.598T>A p.C200S Missense 5/12 - 2
1-47401233-C-T c.597G>A p.K199= Synonymous 5/12 - 2
1-47401236-C-A c.594G>T p.M198I Missense 5/12 - 3
1-47401236-C-G c.594G>C p.M198I Missense 5/12 - 3
1-47401236-C-T c.594G>A p.M198I Missense 5/12 - 3
1-47401247-C-T c.583G>A p.D195N Missense 5/12 - 1
1-47401257-C-A c.573G>T p.L191F Missense 5/12 - 1
1-47401257-C-G c.573G>C p.L191F Missense 5/12 - 1
1-47401258-A-G c.572T>C p.L191S Missense 5/12 - 2
1-47401260-G-A c.570C>T p.S190= Synonymous 5/12 - 3
1-47401260-G-C c.570C>G p.S190= Synonymous 5/12 - 1
1-47401260-G-T c.570C>A p.S190= Synonymous 5/12 - 1
1-47401263-G-C c.567C>G p.V189= Synonymous 5/12 - 1
1-47401267-T-C c.563A>G p.H188R Missense 5/12 - 3
1-47401271-G-A c.559C>T p.Q187* Nonsense 5/12 - 3
1-47401277-C-A c.553G>T p.V185F Missense 5/12 - 8
1-47401278-C-A c.552G>T p.E184D Missense 5/12 - 2
1-47401278-C-G c.552G>C p.E184D Missense 5/12 - 2
1-47401280-C-T c.550G>A p.E184K Missense 5/12 - 2
1-47401282-A-C c.548T>G p.L183R Missense 5/12 - 1
1-47401285-G-A c.545C>T p.P182L Missense 5/12 - 1
1-47401285-G-T c.545C>A p.P182H Missense 5/12 - 1
1-47401288-G-A c.542C>T p.S181F Missense 5/12 - 4
1-47401293-C-A c.537G>T p.Q179H Missense 5/12 - 2
1-47401293-C-G c.537G>C p.Q179H Missense 5/12 - 2
1-47401294-T-C c.536A>G p.Q179R Missense 5/12 - 1
1-47401295-G-A c.535C>T p.Q179* Nonsense 5/12 - 1
1-47401298-C-A c.532G>T p.G178C Missense 5/12 - 1
1-47401302-G-A c.528C>T p.L176= Synonymous 5/12 - 1
1-47401304-G-A c.526C>T p.L176F Missense 5/12 - 1
1-47401305-C-A c.525G>T p.E175D Missense 5/12 - 1
1-47401308-T-C c.522A>G p.E174= Synonymous 5/12 - 1
1-47401308-T-G c.522A>C p.E174D Missense 5/12 - 1
1-47401310-C-T c.520G>A p.E174K Missense 5/12 - 5
1-47401311-C-T c.519G>A p.W173* Nonsense 5/12 - 1
1-47401312-C-T c.518G>A p.W173* Nonsense 5/12 - 1
1-47401424-A-T c.511-105T>A - IntronicSNV - 4/11 11
1-47401466-T-C c.511-147A>G - IntronicSNV - 4/11 3
1-47402216-G-A c.510+120C>T - IntronicSNV - 4/11 1
1-47402247-T-A c.510+89A>T - IntronicSNV - 4/11 1
1-47402247-T-G c.510+89A>C - IntronicSNV - 4/11 1
1-47402340-A-G c.506T>C p.M169T Missense 4/12 - 1
1-47402346-C-T c.500G>A p.R167Q Missense 4/12 - 5
1-47402347-G-A c.499C>T p.R167* Nonsense 4/12 - 2
1-47402352-G-C c.494C>G p.S165C Missense 4/12 - 1
1-47402352-G-T c.494C>A p.S165Y Missense 4/12 - 1
1-47402359-C-T c.487G>A p.A163T Missense 4/12 - 1
1-47402363-G-A c.483C>T p.L161= Synonymous 4/12 - 4
1-47402366-C-A c.480G>T p.G160= Synonymous 4/12 - 3
1-47402366-C-G c.480G>C p.G160= Synonymous 4/12 - 2
1-47402366-C-T c.480G>A p.G160= Synonymous 4/12 - 4
1-47402373-T-A c.473A>T p.Y158F Missense 4/12 - 2
1-47402373-T-C c.473A>G p.Y158C Missense 4/12 - 5
1-47402376-G-T c.470C>A p.P157H Missense 4/12 - 1
1-47402377-G-T c.469C>A p.P157T Missense 4/12 - 1
1-47402383-G-A c.463C>T p.L155= Synonymous 4/12 - 3
1-47402384-G-A c.462C>T p.I154= Synonymous 4/12 - 4
1-47402387-G-T c.459C>A p.D153E Missense 4/12 - 1
1-47402390-A-C c.456T>G p.Y152* Nonsense 4/12 - 2
1-47402390-A-T c.456T>A p.Y152* Nonsense 4/12 - 1
1-47402392-A-T c.454T>A p.Y152N Missense 4/12 - 2
1-47402395-G-A c.451C>T p.H151Y Missense 4/12 - 3
1-47402395-G-T c.451C>A p.H151N Missense 4/12 - 1
1-47402399-G-A c.447C>T p.A149= Synonymous 4/12 - 2
1-47402400-G-A c.446C>T p.A149V Missense 4/12 - 2
1-47402401-C-G c.445G>C p.A149P Missense 4/12 - 1
1-47402407-T-C c.439A>G p.T147A Missense 4/12 - 1
1-47402408-C-A c.438G>T p.L146= Synonymous 4/12 - 1
1-47402408-C-G c.438G>C p.L146= Synonymous 4/12 - 1
1-47402408-C-T c.438G>A p.L146= Synonymous 4/12 - 4
1-47402410-G-A c.436C>T p.L146= Synonymous 4/12 - 1
1-47402414-C-T c.432G>A p.R144= Synonymous 4/12 - 1
1-47402415-C-G c.431G>C p.R144P Missense 4/12 - 1
1-47402415-C-T c.431G>A p.R144Q Missense 4/12 - 6
1-47402416-G-A c.430C>T p.R144W Missense 4/12 - 5
1-47402418-C-T c.428G>A p.R143Q Missense 4/12 - 2
1-47402422-G-A c.424C>T p.H142Y Missense 4/12 - 4
1-47402423-C-A c.423G>T p.Q141H Missense 4/12 - 1
1-47402423-C-T c.423G>A p.Q141= Synonymous 4/12 - 3
1-47402424-T-C c.422A>G p.Q141R Missense 4/12 - 3
1-47402430-C-T c.416G>A p.W139* Nonsense 4/12 - 2
1-47402437-G-T c.409C>A p.Q137K Missense 4/12 - 1
1-47402438-C-T c.408G>A p.G136= Synonymous 4/12 - 1
1-47402439-C-T c.407G>A p.G136E Missense 4/12 - 1
1-47402444-C-T c.402G>A p.L134= Synonymous 4/12 - 1
1-47402446-A-G c.400T>C p.L134= Synonymous 4/12 - 1
1-47402447-C-A c.399G>T p.L133= Synonymous 4/12 - 2
1-47402447-C-G c.399G>C p.L133= Synonymous 4/12 - 2
1-47402447-C-T c.399G>A p.L133= Synonymous 4/12 - 2
1-47402449-G-A c.397C>T p.L133= Synonymous 4/12 - 2
1-47402452-G-A c.394C>T p.L132F Missense 4/12 - 1
1-47402453-C-A c.393G>T p.L131F Missense 4/12 - 6
1-47402453-C-G c.393G>C p.L131F Missense 4/12 - 10
1-47402457-C-T c.389G>A p.G130D Missense 4/12 - 1
1-47402458-C-T c.388G>A p.G130S Missense 4/12 - 8
1-47402459-G-A c.387C>T p.Y129= Synonymous 4/12 - 1
1-47402463-C-T c.383G>A p.G128E Missense 4/12 - 4
1-47402974-C-G c.382G>C p.G128R Missense 3/12 - 2
1-47402974-C-T c.382G>A p.G128R Missense 3/12 - 2
1-47402977-T-A c.379A>T p.I127F Missense 3/12 - 1
1-47402977-T-G c.379A>C p.I127L Missense 3/12 - 1
1-47402978-C-T c.378G>A p.W126* Nonsense 3/12 - 5
1-47402979-C-T c.377G>A p.W126* Nonsense 3/12 - 3
1-47402980-A-G c.376T>C p.W126R Missense 3/12 - 2
1-47402980-A-T c.376T>A p.W126R Missense 3/12 - 2
1-47402981-T-A c.375A>T p.P125= Synonymous 3/12 - 2
1-47402983-G-A c.373C>T p.P125S Missense 3/12 - 1
1-47402986-C-T c.370G>A p.A124T Missense 3/12 - 1
1-47402994-C-T c.362G>A p.R121K Missense 3/12 - 7
1-47403000-G-A c.356C>T p.S119F Missense 3/12 - 3
1-47403007-G-A c.349C>T p.H117Y Missense 3/12 - 4
1-47403008-G-A c.348C>T p.S116= Synonymous 3/12 - 4
1-47403009-G-A c.347C>T p.S116F Missense 3/12 - 2
1-47403014-C-A c.342G>T p.P114= Synonymous 3/12 - 2
1-47403014-C-G c.342G>C p.P114= Synonymous 3/12 - 2
1-47403014-C-T c.342G>A p.P114= Synonymous 3/12 - 6
1-47403015-G-T c.341C>A p.P114Q Missense 3/12 - 1
1-47403031-A-G c.338-13T>C - IntronicSNV - 2/11 3
1-47403494-G-A c.337+174C>T - IntronicSNV - 2/11 2
1-47403659-C-T c.337+9G>A - IntronicSNV - 2/11 1
1-47403668-C-A c.337G>T p.D113Y Missense 2/12 - 2
1-47403668-C-T c.337G>A p.D113N Missense 2/12 - 1
1-47403670-G-A c.335C>T p.S112L Missense 2/12 - 2
1-47403675-C-A c.330G>T p.G110= Synonymous 2/12 - 1
1-47403675-C-G c.330G>C p.G110= Synonymous 2/12 - 1
1-47403675-C-T c.330G>A p.G110= Synonymous 2/12 - 1
1-47403676-C-T c.329G>A p.G110E Missense 2/12 - 5
1-47403677-C-G c.328G>C p.G110R Missense 2/12 - 2
1-47403677-C-T c.328G>A p.G110R Missense 2/12 - 3
1-47403680-G-A c.325C>T p.L109= Synonymous 2/12 - 3
1-47403687-C-A c.318G>T p.K106N Missense 2/12 - 1
1-47403687-C-G c.318G>C p.K106N Missense 2/12 - 1
1-47403690-C-T c.315G>A p.M105I Missense 2/12 - 1
1-47403693-A-C c.312T>G p.Y104* Nonsense 2/12 - 1
1-47403693-A-T c.312T>A p.Y104* Nonsense 2/12 - 1
1-47403698-C-A c.307G>T p.D103Y Missense 2/12 - 1
1-47403701-G-C c.304C>G p.P102A Missense 2/12 - 1
1-47403704-C-T c.301G>A p.D101N Missense 2/12 - 2
1-47403706-T-C c.299A>G p.Y100C Missense 2/12 - 1
1-47403708-G-A c.297C>T p.L99= Synonymous 2/12 - 1
1-47403708-G-C c.297C>G p.L99= Synonymous 2/12 - 1
1-47403708-G-T c.297C>A p.L99= Synonymous 2/12 - 1
1-47403710-G-A c.295C>T p.L99F Missense 2/12 - 1
1-47403711-C-G c.294G>C p.Q98H Missense 2/12 - 1
1-47403713-G-T c.292C>A p.Q98K Missense 2/12 - 2
1-47403719-G-A c.286C>T p.R96C Missense 2/12 - 10
1-47403729-T-A c.276A>T p.G92= Synonymous 2/12 - 1
1-47403729-T-C c.276A>G p.G92= Synonymous 2/12 - 1
1-47403729-T-G c.276A>C p.G92= Synonymous 2/12 - 1
1-47403731-C-G c.274G>C p.G92R Missense 2/12 - 1
1-47403731-C-T c.274G>A p.G92R Missense 2/12 - 5
1-47403732-C-T c.273G>A p.W91* Nonsense 2/12 - 1
1-47403742-T-C c.263A>G p.H88R Missense 2/12 - 1
1-47403745-G-A c.260C>T p.P87L Missense 2/12 - 1
1-47403746-G-A c.259C>T p.P87S Missense 2/12 - 1
1-47403748-C-G c.257G>C p.C86S Missense 2/12 - 1
1-47403749-A-G c.256T>C p.C86R Missense 2/12 - 4
1-47403749-A-T c.256T>A p.C86S Missense 2/12 - 1
1-47403757-G-T c.248C>A p.P83Q Missense 2/12 - 2
1-47403758-G-A c.247C>T p.P83S Missense 2/12 - 1
1-47403759-G-A c.246C>T p.F82= Synonymous 2/12 - 3
1-47403759-G-C c.246C>G p.F82L Missense 2/12 - 1
1-47403759-G-T c.246C>A p.F82L Missense 2/12 - 1
1-47403761-A-G c.244T>C p.F82L Missense 2/12 - 1
1-47403767-C-G c.238G>C p.E80Q Missense 2/12 - 2
1-47403767-C-T c.238G>A p.E80K Missense 2/12 - 6
1-47403770-C-A c.235G>T p.V79L Missense 2/12 - 2
1-47403770-C-G c.235G>C p.V79L Missense 2/12 - 1
1-47403774-T-A c.231A>T p.K77N Missense 2/12 - 5
1-47403774-T-G c.231A>C p.K77N Missense 2/12 - 1
1-47403778-T-G c.227A>C p.Q76P Missense 2/12 - 4
1-47403783-C-T c.222G>A p.R74= Synonymous 2/12 - 3
1-47403785-G-A c.220C>T p.R74W Missense 2/12 - 1
1-47403785-G-T c.220C>A p.R74= Synonymous 2/12 - 1
1-47403794-C-T c.211G>A p.E71K Missense 2/12 - 7
1-47403795-C-T c.210G>A p.Q70= Synonymous 2/12 - 2
1-47403798-G-C c.207C>G p.D69E Missense 2/12 - 3
1-47403798-G-T c.207C>A p.D69E Missense 2/12 - 3
1-47403806-G-A c.199C>T p.Q67* Nonsense 2/12 - 3
1-47403807-G-A c.198C>T p.L66= Synonymous 2/12 - 1
1-47403807-G-C c.198C>G p.L66= Synonymous 2/12 - 1
1-47403807-G-T c.198C>A p.L66= Synonymous 2/12 - 1
1-47403809-G-A c.196C>T p.L66F Missense 2/12 - 1
1-47404186-T-C c.196-377A>G - IntronicSNV - 1/11 5
1-47405653-T-C c.195+1258A>G - IntronicSNV - 1/11 1
1-47406911-C-T c.195G>A p.E65= Synonymous 1/12 - 1
1-47406913-C-T c.193G>A p.E65K Missense 1/12 - 4
1-47406916-G-A c.190C>T p.Q64* Nonsense 1/12 - 1
1-47406916-G-T c.190C>A p.Q64K Missense 1/12 - 1
1-47406920-G-T c.186C>A p.H62Q Missense 1/12 - 2
1-47406921-T-C c.185A>G p.H62R Missense 1/12 - 1
1-47406924-C-G c.182G>C p.G61A Missense 1/12 - 1
1-47406924-C-T c.182G>A p.G61E Missense 1/12 - 1
1-47406925-C-A c.181G>T p.G61W Missense 1/12 - 2
1-47406925-C-G c.181G>C p.G61R Missense 1/12 - 4
1-47406925-C-T c.181G>A p.G61R Missense 1/12 - 5
1-47406926-G-A c.180C>T p.F60= Synonymous 1/12 - 4
1-47406926-G-T c.180C>A p.F60L Missense 1/12 - 1
1-47406927-A-G c.179T>C p.F60S Missense 1/12 - 1
1-47406931-G-A c.175C>T p.L59F Missense 1/12 - 1
1-47406932-C-A c.174G>T p.W58C Missense 1/12 - 1
1-47406932-C-G c.174G>C p.W58C Missense 1/12 - 1
1-47406937-G-A c.169C>T p.H57Y Missense 1/12 - 3
1-47406937-G-C c.169C>G p.H57D Missense 1/12 - 1
1-47406938-G-A c.168C>T p.S56= Synonymous 1/12 - 1
1-47406939-G-A c.167C>T p.S56F Missense 1/12 - 2
1-47406939-G-T c.167C>A p.S56Y Missense 1/12 - 3
1-47406941-G-A c.165C>T p.P55= Synonymous 1/12 - 4
1-47406941-G-C c.165C>G p.P55= Synonymous 1/12 - 3
1-47406941-G-T c.165C>A p.P55= Synonymous 1/12 - 4
1-47406942-G-A c.164C>T p.P55L Missense 1/12 - 1
1-47406942-G-C c.164C>G p.P55R Missense 1/12 - 1
1-47406943-G-A c.163C>T p.P55S Missense 1/12 - 1
1-47406943-G-C c.163C>G p.P55A Missense 1/12 - 1
1-47406945-G-A c.161C>T p.P54L Missense 1/12 - 3
1-47406945-G-C c.161C>G p.P54R Missense 1/12 - 1
1-47406946-G-T c.160C>A p.P54T Missense 1/12 - 1
1-47406949-A-G c.157T>C p.C53R Missense 1/12 - 1
1-47406952-G-A c.154C>T p.P52S Missense 1/12 - 1
1-47406953-G-A c.153C>T p.F51= Synonymous 1/12 - 4
1-47406960-T-C c.146A>G p.Q49R Missense 1/12 - 1
1-47406966-G-A c.140C>T p.A47V Missense 1/12 - 4
1-47406967-C-T c.139G>A p.A47T Missense 1/12 - 2
1-47406969-T-C c.137A>G p.K46R Missense 1/12 - 1
1-47406972-A-T c.134T>A p.L45H Missense 1/12 - 1
1-47406979-A-G c.127T>C p.W43R Missense 1/12 - 1
1-47406979-A-T c.127T>A p.W43R Missense 1/12 - 1
1-47406981-T-A c.125A>T p.Q42L Missense 1/12 - 1
1-47406984-C-T c.122G>A p.R41K Missense 1/12 - 6
1-47406994-A-T c.112T>A p.Y38N Missense 1/12 - 1
1-47406995-G-A c.111C>T p.L37= Synonymous 1/12 - 2
1-47406995-G-C c.111C>G p.L37= Synonymous 1/12 - 1
1-47406995-G-T c.111C>A p.L37= Synonymous 1/12 - 1
1-47406996-A-T c.110T>A p.L37H Missense 1/12 - 1
1-47406997-G-A c.109C>T p.L37F Missense 1/12 - 3
1-47407000-G-A c.106C>T p.Q36* Nonsense 1/12 - 1
1-47407002-A-G c.104T>C p.V35A Missense 1/12 - 3
1-47407003-C-T c.103G>A p.V35I Missense 1/12 - 1
1-47407005-G-A c.101C>T p.A34V Missense 1/12 - 1
1-47407007-C-T c.99G>A p.K33= Synonymous 1/12 - 3
1-47407013-C-T c.93G>A p.L31= Synonymous 1/12 - 3
1-47407015-G-T c.91C>A p.L31M Missense 1/12 - 1
1-47407019-C-A c.87G>T p.L29= Synonymous 1/12 - 1
1-47407019-C-G c.87G>C p.L29= Synonymous 1/12 - 1
1-47407019-C-T c.87G>A p.L29= Synonymous 1/12 - 1
1-47407021-G-A c.85C>T p.L29= Synonymous 1/12 - 1
1-47407021-G-T c.85C>A p.L29M Missense 1/12 - 2
1-47407023-A-C c.83T>G p.L28R Missense 1/12 - 1
1-47407033-G-A c.73C>T p.L25F Missense 1/12 - 1
1-47407037-G-T c.69C>A p.S23= Synonymous 1/12 - 1
1-47407038-G-A c.68C>T p.S23F Missense 1/12 - 2
1-47407040-G-A c.66C>T p.A22= Synonymous 1/12 - 1
1-47407043-C-A c.63G>T p.A21= Synonymous 1/12 - 3
1-47407043-C-G c.63G>C p.A21= Synonymous 1/12 - 3
1-47407043-C-T c.63G>A p.A21= Synonymous 1/12 - 4
1-47407051-G-C c.55delinsG p.L19V Missense 1/12 - 1
1-47407052-G-A c.54C>T p.I18= Synonymous 1/12 - 3
1-47407052-G-T c.54C>A p.I18= Synonymous 1/12 - 4
1-47407055-T-A c.51A>T p.G17= Synonymous 1/12 - 1
1-47407055-T-C c.51A>G p.G17= Synonymous 1/12 - 1
1-47407055-T-G c.51A>C p.G17= Synonymous 1/12 - 1
1-47407056-C-T c.50G>A p.G17E Missense 1/12 - 5
1-47407058-A-C c.48T>G p.S16= Synonymous 1/12 - 2
1-47407058-A-G c.48T>C p.S16= Synonymous 1/12 - 1
1-47407058-A-T c.48T>A p.S16= Synonymous 1/12 - 1
1-47407062-A-G c.44T>C p.V15A Missense 1/12 - 2
1-47407065-T-C c.41A>G p.D14G Missense 1/12 - 1
1-47407066-C-A c.40G>T p.D14Y Missense 1/12 - 3
1-47407066-C-T c.40G>A p.D14N Missense 1/12 - 1
1-47407067-A-C c.39T>G p.G13= Synonymous 1/12 - 1
1-47407067-A-G c.39T>C p.G13= Synonymous 1/12 - 3
1-47407067-A-T c.39T>A p.G13= Synonymous 1/12 - 1
1-47407069-C-T c.37G>A p.G13S Missense 1/12 - 3
1-47407070-C-G c.36G>C p.L12= Synonymous 1/12 - 1
1-47407073-G-A c.33C>T p.L11= Synonymous 1/12 - 1
1-47407073-G-C c.33C>G p.L11= Synonymous 1/12 - 1
1-47407073-G-T c.33C>A p.L11= Synonymous 1/12 - 1
1-47407074-A-C c.32T>G p.L11R Missense 1/12 - 2
1-47407074-A-G c.32T>C p.L11P Missense 1/12 - 1
1-47407075-G-A c.31C>T p.L11F Missense 1/12 - 1
1-47407081-T-A c.25A>T p.S9C Missense 1/12 - 1
1-47407082-G-A c.24C>T p.P8= Synonymous 1/12 - 1
1-47407083-G-C c.23C>G p.P8R Missense 1/12 - 1
1-47407084-G-C c.22C>G p.P8A Missense 1/12 - 1
1-47407084-G-T c.22C>A p.P8T Missense 1/12 - 3
1-47407091-C-A c.15G>T p.V5= Synonymous 1/12 - 1
1-47407091-C-G c.15G>C p.V5= Synonymous 1/12 - 2
1-47407091-C-T c.15G>A p.V5= Synonymous 1/12 - 1
1-47407094-A-C c.12T>G p.S4= Synonymous 1/12 - 1
1-47407094-A-G c.12T>C p.S4= Synonymous 1/12 - 1
1-47407094-A-T c.12T>A p.S4= Synonymous 1/12 - 1
1-47407095-G-A c.11C>T p.S4F Missense 1/12 - 4
1-47407103-C-A c.3G>T p.M1? Missense 1/12 - 1
1-47407103-C-G c.3G>C p.M1? Missense 1/12 - 1
1-47407103-C-T c.3G>A p.M1? Missense 1/12 - 1
1-47407109-G-A c.-4C>T - 5-UTRSNV 1/12 - 1
1-47407109-G-C c.-4C>G - 5-UTRSNV 1/12 - 1
1-47407139-A-G c.-34T>C - 5-UTRSNV 1/12 - 1
1-47407139-A-T c.-34T>A - 5-UTRSNV 1/12 - 1