NARS2

NARS2 asparaginyl-tRNA synthetase 2, mitochondrial

Annotation transcript: NM_024678.6

782 unique variant annotations were identified in 349 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
11-78147055-A-G c.*661T>C - 3-UTRSNV 14/14 - 1
11-78147723-A-T c.1427T>A p.L476H Missense 14/14 - 2
11-78147728-T-C c.1422A>G p.S474= Synonymous 14/14 - 1
11-78147729-G-A c.1421C>T p.S474L Missense 14/14 - 1
11-78147733-G-T c.1417C>A p.H473N Missense 14/14 - 1
11-78147735-G-T c.1415C>A p.P472H Missense 14/14 - 1
11-78147742-T-C c.1408A>G p.R470G Missense 14/14 - 1
11-78147745-G-A c.1405C>T p.P469S Missense 14/14 - 2
11-78147746-G-A c.1404C>T p.F468= Synonymous 14/14 - 4
11-78147748-A-C c.1402T>G p.F468V Missense 14/14 - 2
11-78147748-A-G c.1402T>C p.F468L Missense 14/14 - 4
11-78147750-G-A c.1400C>T p.P467L Missense 14/14 - 3
11-78147751-G-C c.1399C>G p.P467A Missense 14/14 - 1
11-78147753-A-G c.1397T>C p.I466T Missense 14/14 - 2
11-78147761-T-G c.1389A>C p.K463N Missense 14/14 - 2
11-78147762-T-C c.1388A>G p.K463R Missense 14/14 - 1
11-78147768-T-C c.1382A>G p.N461S Missense 14/14 - 1
11-78147769-T-C c.1381A>G p.N461D Missense 14/14 - 3
11-78147774-A-G c.1376T>C p.V459A Missense 14/14 - 3
11-78147775-C-T c.1375G>A p.V459I Missense 14/14 - 1
11-78147781-A-C c.1369T>G p.L457V Missense 14/14 - 2
11-78147783-A-G c.1367T>C p.I456T Missense 14/14 - 1
11-78147786-C-T c.1364G>A p.C455Y Missense 14/14 - 1
11-78147789-T-C c.1361A>G p.Q454R Missense 14/14 - 1
11-78147795-T-A c.1355A>T p.Y452F Missense 14/14 - 1
11-78147795-T-C c.1355A>G p.Y452C Missense 14/14 - 1
11-78147796-A-G c.1354T>C p.Y452H Missense 14/14 - 1
11-78147798-C-T c.1352G>A p.R451H Missense 14/14 - 1
11-78147799-G-A c.1351C>T p.R451C Missense 14/14 - 6
11-78147802-C-A c.1348G>T p.E450* Nonsense 14/14 - 1
11-78147802-C-T c.1348G>A p.E450K Missense 14/14 - 3
11-78147811-T-C c.1339A>G p.M447V Missense 14/14 - 2
11-78147814-C-G c.1336G>C p.G446R Missense 14/14 - 1
11-78147814-C-T c.1336G>A p.G446R Missense 14/14 - 1
11-78147815-A-C c.1335T>G p.F445L Missense 14/14 - 1
11-78147825-T-A c.1325A>T p.H442L Missense 14/14 - 1
11-78147825-T-G c.1325A>C p.H442P Missense 14/14 - 1
11-78147832-C-A c.1318G>T p.V440L Missense 14/14 - 2
11-78147832-C-T c.1318G>A p.V440M Missense 14/14 - 1
11-78147834-G-A c.1316C>T p.S439F Missense 14/14 - 1
11-78147835-A-G c.1315T>C p.S439P Missense 14/14 - 1
11-78147835-A-T c.1315T>A p.S439T Missense 14/14 - 1
11-78147843-C-A c.1307G>T p.R436L Missense 14/14 - 1
11-78147843-C-T c.1307G>A p.R436Q Missense 14/14 - 1
11-78147844-G-A c.1306C>T p.R436* Nonsense 14/14 - 2
11-78147844-G-C c.1306C>G p.R436G Missense 14/14 - 2
11-78147846-C-A c.1304G>T p.R435L Missense 14/14 - 1
11-78147846-C-T c.1304G>A p.R435H Missense 14/14 - 4
11-78147847-G-A c.1303C>T p.R435C Missense 14/14 - 7
11-78147850-G-A c.1300C>T p.L434F Missense 14/14 - 4
11-78147855-A-G c.1295T>C p.L432P Missense 14/14 - 1
11-78147856-G-C c.1294C>G p.L432V Missense 14/14 - 1
11-78147858-T-C c.1292A>G p.Y431C Missense 14/14 - 2
11-78147859-A-G c.1291T>C p.Y431H Missense 14/14 - 4
11-78147860-C-G c.1290G>C p.W430C Missense 14/14 - 1
11-78151736-A-G c.1289+401T>C - IntronicSNV - 13/13 1
11-78152081-T-A c.1289+56A>T - IntronicSNV - 13/13 1
11-78152130-T-C c.1289+7A>G - IntronicSNV - 13/13 2
11-78152138-A-G c.1288T>C p.W430R Missense 13/14 - 1
11-78152138-A-T c.1288T>A p.W430R Missense 13/14 - 1
11-78152142-G-A c.1284C>T p.Y428= Synonymous 13/14 - 1
11-78152152-G-A c.1274C>T p.T425I Missense 13/14 - 1
11-78152152-G-T c.1274C>A p.T425K Missense 13/14 - 1
11-78152153-T-C c.1273A>G p.T425A Missense 13/14 - 1
11-78152156-G-A c.1270C>T p.L424F Missense 13/14 - 1
11-78152158-C-G c.1268G>C p.G423A Missense 13/14 - 1
11-78152159-C-T c.1267G>A p.G423R Missense 13/14 - 1
11-78152161-G-A c.1265C>T p.S422L Missense 13/14 - 4
11-78152161-G-C c.1265C>G p.S422W Missense 13/14 - 1
11-78152163-T-A c.1263A>T p.R421S Missense 13/14 - 2
11-78154701-C-T c.1262+6G>A - IntronicSNV - 12/13 1
11-78154706-C-A c.1262+1G>T - IntronicSNV - 12/13 1
11-78154708-T-C c.1261A>G p.R421G Missense 12/14 - 2
11-78154714-A-C c.1255T>G p.L419V Missense 12/14 - 1
11-78154716-C-T c.1253G>A p.R418H Missense 12/14 - 13
11-78154717-G-A c.1252C>T p.R418C Missense 12/14 - 2
11-78154720-C-G c.1249G>C p.E417Q Missense 12/14 - 1
11-78154723-C-G c.1246G>C p.E416Q Missense 12/14 - 2
11-78154723-C-T c.1246G>A p.E416K Missense 12/14 - 1
11-78154731-T-C c.1238A>G p.H413R Missense 12/14 - 2
11-78154732-G-A c.1237C>T p.H413Y Missense 12/14 - 2
11-78154732-G-C c.1237C>G p.H413D Missense 12/14 - 1
11-78154733-G-C c.1236C>G p.Y412* Nonsense 12/14 - 1
11-78154734-T-C c.1235A>G p.Y412C Missense 12/14 - 4
11-78154737-C-A c.1232G>T p.R411L Missense 12/14 - 3
11-78154737-C-T c.1232G>A p.R411Q Missense 12/14 - 1
11-78154738-G-A c.1231C>T p.R411* Nonsense 12/14 - 1
11-78154741-C-T c.1228G>A p.E410K Missense 12/14 - 1
11-78154742-T-C c.1227A>G p.E409= Synonymous 12/14 - 1
11-78154744-C-G c.1225G>C p.E409Q Missense 12/14 - 1
11-78154746-C-T c.1223G>A p.R408K Missense 12/14 - 1
11-78154748-G-A c.1221C>T p.L407= Synonymous 12/14 - 1
11-78154748-G-C c.1221C>G p.L407= Synonymous 12/14 - 1
11-78154748-G-T c.1221C>A p.L407= Synonymous 12/14 - 1
11-78154749-A-G c.1220T>C p.L407P Missense 12/14 - 1
11-78154749-A-T c.1220T>A p.L407H Missense 12/14 - 1
11-78154750-G-A c.1219C>T p.L407F Missense 12/14 - 3
11-78154751-G-A c.1218C>T p.G406= Synonymous 12/14 - 2
11-78154751-G-C c.1218C>G p.G406= Synonymous 12/14 - 1
11-78154751-G-T c.1218C>A p.G406= Synonymous 12/14 - 1
11-78154753-C-T c.1216G>A p.G406S Missense 12/14 - 1
11-78154755-C-A c.1214G>T p.G405V Missense 12/14 - 2
11-78154760-A-G c.1209T>C p.F403= Synonymous 12/14 - 2
11-78154770-C-A c.1199G>T p.G400V Missense 12/14 - 2
11-78154773-A-C c.1196T>G p.V399G Missense 12/14 - 3
11-78154785-A-C c.1184T>G p.L395R Missense 12/14 - 3
11-78154785-A-G c.1184T>C p.L395P Missense 12/14 - 2
11-78154789-G-A c.1180C>T p.L394F Missense 12/14 - 1
11-78154789-G-T c.1180C>A p.L394I Missense 12/14 - 2
11-78154791-T-C c.1178A>G p.D393G Missense 12/14 - 1
11-78154792-C-T c.1177G>A p.D393N Missense 12/14 - 3
11-78154800-G-A c.1169C>T p.A390V Missense 12/14 - 1
11-78161361-C-T c.1165-6557G>A - IntronicSNV - 11/13 1
11-78161452-A-T c.1165-6648T>A - IntronicSNV - 11/13 1
11-78162984-C-T c.1165-8180G>A - IntronicSNV - 11/13 1
11-78164984-T-G c.1165-10180A>C - IntronicSNV - 11/13 1
11-78165973-AT-A c.1164+10948del - IntronicDeletion - 11/13 1
11-78166187-G-A c.1164+10735C>T - IntronicSNV - 11/13 1
11-78169952-GT-G c.1164+6969del - IntronicDeletion - 11/13 1
11-78173133-C-G c.1164+3789G>C - IntronicSNV - 11/13 1
11-78175987-C-A c.1164+935G>T - IntronicSNV - 11/13 1
11-78175987-C-G c.1164+935G>C - IntronicSNV - 11/13 1
11-78176923-G-A c.1163C>T p.T388M Missense 11/14 - 9
11-78176927-G-A c.1159C>T p.H387Y Missense 11/14 - 2
11-78176939-C-A c.1147G>T p.D383Y Missense 11/14 - 1
11-78176941-T-G c.1145A>C p.E382A Missense 11/14 - 1
11-78176944-T-C c.1142A>G p.N381S Missense 11/14 - 7
11-78176945-T-C c.1141A>G p.N381D Missense 11/14 - 1
11-78176946-A-C c.1140T>G p.D380E Missense 11/14 - 2
11-78176949-CC-GA c.1136_1137delinsTC p.R379I Missense 11/14 - 2
11-78176951-T-C c.1135A>G p.R379G Missense 11/14 - 1
11-78176952-C-A c.1134G>T p.M378I Missense 11/14 - 1
11-78176952-C-G c.1134G>C p.M378I Missense 11/14 - 1
11-78176952-C-T c.1134G>A p.M378I Missense 11/14 - 1
11-78176954-T-A c.1132A>T p.M378L Missense 11/14 - 1
11-78176954-T-G c.1132A>C p.M378L Missense 11/14 - 3
11-78176957-A-G c.1129T>C p.Y377H Missense 11/14 - 2
11-78176959-A-C c.1127T>G p.F376C Missense 11/14 - 3
11-78176962-G-A c.1124C>T p.P375L Missense 11/14 - 1
11-78176964-C-A c.1122G>T p.K374N Missense 11/14 - 1
11-78176964-C-G c.1122G>C p.K374N Missense 11/14 - 1
11-78176968-A-C c.1118T>G p.L373R Missense 11/14 - 1
11-78176968-A-G c.1118T>C p.L373P Missense 11/14 - 1
11-78176971-G-C c.1115C>G p.T372R Missense 11/14 - 1
11-78176978-G-A c.1108C>T p.P370S Missense 11/14 - 1
11-78176981-A-G c.1105T>C p.Y369H Missense 11/14 - 1
11-78176982-A-C c.1104T>G p.N368K Missense 11/14 - 1
11-78176982-A-T c.1104T>A p.N368K Missense 11/14 - 1
11-78176984-T-A c.1102A>T p.N368Y Missense 11/14 - 1
11-78176986-A-G c.1100T>C p.I367T Missense 11/14 - 1
11-78176990-C-G c.1096G>C p.V366L Missense 11/14 - 2
11-78176990-C-T c.1096G>A p.V366I Missense 11/14 - 1
11-78176991-G-A c.1095C>T p.F365= Synonymous 11/14 - 5
11-78176992-A-G c.1094T>C p.F365S Missense 11/14 - 1
11-78176991-G-C c.1095C>G p.F365L Missense 11/14 - 1
11-78176991-G-T c.1095C>A p.F365L Missense 11/14 - 1
11-78176993-A-G c.1093T>C p.F365L Missense 11/14 - 1
11-78176999-G-T c.1087C>A p.P363T Missense 11/14 - 2
11-78177002-T-C c.1084A>G p.I362V Missense 11/14 - 1
11-78177004-T-C c.1082A>G p.N361S Missense 11/14 - 3
11-78177005-T-C c.1081A>G p.N361D Missense 11/14 - 1
11-78177007-C-T c.1079G>A p.G360D Missense 11/14 - 2
11-78177009-A-C c.1077T>G p.C359W Missense 11/14 - 1
11-78177011-A-G c.1075T>C p.C359R Missense 11/14 - 1
11-78177014-G-A c.1072C>T p.H358Y Missense 11/14 - 1
11-78177015-C-A c.1071G>T p.K357N Missense 11/14 - 1
11-78177015-C-G c.1071G>C p.K357N Missense 11/14 - 1
11-78177016-T-C c.1070A>G p.K357R Missense 11/14 - 2
11-78177017-T-C c.1069A>G p.K357E Missense 11/14 - 1
11-78177017-T-G c.1069A>C p.K357Q Missense 11/14 - 1
11-78177018-C-T c.1068G>A p.V356= Synonymous 11/14 - 1
11-78177023-G-C c.1063C>G p.L355V Missense 11/14 - 1
11-78177027-C-T c.1059G>A p.K353= Synonymous 11/14 - 1
11-78177031-T-C c.1055A>G p.E352G Missense 11/14 - 1
11-78177032-C-G c.1054G>C p.E352Q Missense 11/14 - 1
11-78177032-C-T c.1054G>A p.E352K Missense 11/14 - 1
11-78177034-T-C c.1052A>G p.H351R Missense 11/14 - 1
11-78177038-C-T c.1048G>A p.E350K Missense 11/14 - 2
11-78177043-C-T c.1043G>A p.R348Q Missense 11/14 - 1
11-78177044-G-A c.1042C>T p.R348W Missense 11/14 - 1
11-78177044-G-C c.1042C>G p.R348G Missense 11/14 - 1
11-78177047-G-C c.1039C>G p.L347V Missense 11/14 - 2
11-78177050-C-T c.1036G>A p.D346N Missense 11/14 - 1
11-78177055-C-G c.1031G>C p.G344A Missense 11/14 - 2
11-78177056-C-A c.1030G>T p.G344C Missense 11/14 - 2
11-78177059-A-G c.1027T>C p.W343R Missense 11/14 - 1
11-78177324-C-A c.1027-265G>T - IntronicSNV - 10/13 1
11-78177324-C-G c.1027-265G>C - IntronicSNV - 10/13 1
11-78179652-A-G c.1026+641T>C - IntronicSNV - 10/13 1
11-78180179-A-G c.1026+114T>C - IntronicSNV - 10/13 4
11-78180291-A-C c.1026+2T>G - IntronicSNV - 10/13 1
11-78180294-T-A c.1025A>T p.E342V Missense 10/14 - 1
11-78180295-C-G c.1024G>C p.E342Q Missense 10/14 - 1
11-78180300-G-A c.1019C>T p.T340I Missense 10/14 - 2
11-78180301-T-A c.1018A>T p.T340S Missense 10/14 - 1
11-78180304-A-G c.1015T>C p.F339L Missense 10/14 - 1
11-78180305-G-A c.1014C>T p.T338= Synonymous 10/14 - 1
11-78180305-G-C c.1014C>G p.T338= Synonymous 10/14 - 1
11-78180305-G-T c.1014C>A p.T338= Synonymous 10/14 - 1
11-78180306-G-A c.1013C>T p.T338I Missense 10/14 - 1
11-78180309-A-G c.1010T>C p.F337S Missense 10/14 - 1
11-78180308-G-C c.1011C>G p.F337L Missense 10/14 - 1
11-78180308-G-T c.1011C>A p.F337L Missense 10/14 - 1
11-78180310-A-G c.1009T>C p.F337L Missense 10/14 - 2
11-78180311-G-A c.1008C>T p.N336= Synonymous 10/14 - 1
11-78180311-G-C c.1008C>G p.N336K Missense 10/14 - 1
11-78180312-T-G c.1007A>C p.N336T Missense 10/14 - 1
11-78180316-G-A c.1003C>T p.Q335* Nonsense 10/14 - 1
11-78180316-G-T c.1003C>A p.Q335K Missense 10/14 - 1
11-78180318-GA-AG c.1000_1001delinsCT p.S334L Missense 10/14 - 2
11-78180318-G-T c.1001C>A p.S334Y Missense 10/14 - 1
11-78180321-G-A c.998C>T p.A333V Missense 10/14 - 1
11-78180322-C-A c.997G>T p.A333S Missense 10/14 - 1
11-78180328-T-G c.991A>C p.K331Q Missense 10/14 - 1
11-78180329-T-G c.990A>C p.L330F Missense 10/14 - 1
11-78180329-T-C c.990A>G p.L330= Synonymous 10/14 - 2
11-78180331-A-G c.988T>C p.L330= Synonymous 10/14 - 1
11-78180333-A-G c.986T>C p.I329T Missense 10/14 - 2
11-78180334-T-G c.985A>C p.I329L Missense 10/14 - 1
11-78180337-C-T c.982G>A p.E328K Missense 10/14 - 1
11-78180344-T-A c.975A>T p.E325D Missense 10/14 - 1
11-78180350-A-C c.969T>G p.Y323* Nonsense 10/14 - 2
11-78180350-A-G c.969T>C p.Y323= Synonymous 10/14 - 1
11-78180350-A-T c.969T>A p.Y323* Nonsense 10/14 - 4
11-78180351-T-C c.968A>G p.Y323C Missense 10/14 - 2
11-78180354-G-C c.965C>G p.S322C Missense 10/14 - 1
11-78180358-T-C c.961A>G p.I321V Missense 10/14 - 1
11-78180359-G-C c.960C>G p.I320M Missense 10/14 - 1
11-78180507-A-T c.960-148T>A - IntronicSNV - 9/13 5
11-78180508-A-C c.960-149T>G - IntronicSNV - 9/13 5
11-78180810-C-G c.960-451G>C - IntronicSNV - 9/13 1
11-78185197-T-G c.959+4287A>C - IntronicSNV - 9/13 1
11-78187979-A-C c.959+1505T>G - IntronicSNV - 9/13 1
11-78189484-A-T c.959T>A p.I320N Missense 9/14 - 1
11-78189485-T-C c.958A>G p.I320V Missense 9/14 - 1
11-78189492-G-A c.951C>T p.N317= Synonymous 9/14 - 1
11-78189493-T-C c.950A>G p.N317S Missense 9/14 - 2
11-78189495-G-T c.948C>A p.N316K Missense 9/14 - 1
11-78189495-GT-G c.947del p.N316Tfs*4 Frameshift 9/14 - 1
11-78189504-C-G c.939G>C p.M313I Missense 9/14 - 1
11-78189505-A-G c.938T>C p.M313T Missense 9/14 - 1
11-78189508-T-C c.935A>G p.H312R Missense 9/14 - 1
11-78189517-C-T c.926G>A p.R309K Missense 9/14 - 1
11-78189558-T-C c.922-37A>G - IntronicSNV - 8/13 7
11-78189633-T-G c.919A>C p.K307Q Missense 8/14 - 1
11-78189642-G-A c.910C>T p.P304S Missense 8/14 - 1
11-78189645-C-A c.907G>T p.A303S Missense 8/14 - 2
11-78189645-C-G c.907G>C p.A303P Missense 8/14 - 1
11-78189645-C-T c.907G>A p.A303T Missense 8/14 - 1
11-78189646-T-C c.906A>G p.I302M Missense 8/14 - 1
11-78189649-G-A c.903C>T p.F301= Synonymous 8/14 - 2
11-78189652-T-C c.900A>G p.K300= Synonymous 8/14 - 1
11-78189653-T-C c.899A>G p.K300R Missense 8/14 - 12
11-78189655-G-A c.897C>T p.H299= Synonymous 8/14 - 1
11-78189658-A-G c.894T>C p.C298= Synonymous 8/14 - 1
11-78189663-G-A c.889C>T p.L297F Missense 8/14 - 1
11-78189663-G-C c.889C>G p.L297V Missense 8/14 - 1
11-78189673-T-A c.879A>T p.E293D Missense 8/14 - 2
11-78189677-G-A c.875C>T p.P292L Missense 8/14 - 2
11-78189678-G-A c.874C>T p.P292S Missense 8/14 - 2
11-78189681-A-G c.871T>C p.C291R Missense 8/14 - 2
11-78189683-T-A c.869A>T p.K290I Missense 8/14 - 5
11-78189686-G-A c.866C>T p.S289L Missense 8/14 - 1
11-78189690-G-C c.862C>G p.L288V Missense 8/14 - 2
11-78189693-C-G c.859G>C p.V287L Missense 8/14 - 1
11-78189693-C-T c.859G>A p.V287I Missense 8/14 - 1
11-78189696-T-C c.856A>G p.M286V Missense 8/14 - 1
11-78189698-A-G c.854T>C p.M285T Missense 8/14 - 1
11-78189701-G-C c.851C>G p.T284R Missense 8/14 - 1
11-78189702-T-C c.850A>G p.T284A Missense 8/14 - 1
11-78189705-T-C c.847A>G p.T283A Missense 8/14 - 1
11-78189708-C-G c.844G>C p.A282P Missense 8/14 - 1
11-78189708-C-T c.844G>A p.A282T Missense 8/14 - 1
11-78189711-T-C c.841A>G p.K281E Missense 8/14 - 2
11-78189712-G-C c.840C>G p.F280L Missense 8/14 - 1
11-78189715-C-A c.837G>T p.L279= Synonymous 8/14 - 3
11-78189715-C-G c.837G>C p.L279= Synonymous 8/14 - 4
11-78189715-C-T c.837G>A p.L279= Synonymous 8/14 - 3
11-78189717-G-A c.835C>T p.L279= Synonymous 8/14 - 3
11-78189723-C-G c.829G>C p.E277Q Missense 8/14 - 1
11-78189724-T-C c.828A>G p.I276M Missense 8/14 - 1
11-78189726-T-C c.826A>G p.I276V Missense 8/14 - 1
11-78189726-T-G c.826A>C p.I276L Missense 8/14 - 2
11-78202388-C-G c.822+1721G>C - IntronicSNV - 7/13 1
11-78202388-C-T c.822+1721G>A - IntronicSNV - 7/13 1
11-78204073-CACAGAT-C c.822+30_822+35del - IntronicDeletion - 7/13 2
11-78204109-C-G c.822G>C p.Q274H Missense 7/14 - 3
11-78204112-C-A c.819G>T p.M273I Missense 7/14 - 1
11-78204112-C-G c.819G>C p.M273I Missense 7/14 - 1
11-78204112-C-T c.819G>A p.M273I Missense 7/14 - 1
11-78204113-A-G c.818T>C p.M273T Missense 7/14 - 2
11-78204116-A-G c.815T>C p.L272P Missense 7/14 - 1
11-78204117-G-A c.814C>T p.L272F Missense 7/14 - 1
11-78204117-G-T c.814C>A p.L272I Missense 7/14 - 1
11-78204122-T-G c.809A>C p.Q270P Missense 7/14 - 1
11-78204128-C-T c.803G>A p.S268N Missense 7/14 - 1
11-78204128-CT-AA c.802_803delinsTT p.S268F Missense 7/14 - 1
11-78204129-T-C c.802A>G p.S268G Missense 7/14 - 2
11-78204129-T-G c.802A>C p.S268R Missense 7/14 - 2
11-78204130-G-A c.801C>T p.D267= Synonymous 7/14 - 1
11-78204132-C-G c.799G>C p.D267H Missense 7/14 - 1
11-78204135-C-T c.796G>A p.V266I Missense 7/14 - 1
11-78204140-G-C c.791C>G p.S264C Missense 7/14 - 3
11-78204140-G-T c.791C>A p.S264Y Missense 7/14 - 2
11-78204143-A-G c.788T>C p.I263T Missense 7/14 - 2
11-78204145-C-A c.786G>T p.E262D Missense 7/14 - 1
11-78204145-C-G c.786G>C p.E262D Missense 7/14 - 1
11-78204145-C-T c.786G>A p.E262= Synonymous 7/14 - 3
11-78204147-C-A c.784G>T p.E262* Nonsense 7/14 - 2
11-78204150-C-T c.781G>A p.A261T Missense 7/14 - 3
11-78204153-C-T c.778G>A p.E260K Missense 7/14 - 2
11-78204154-T-C c.777A>G p.I259M Missense 7/14 - 1
11-78204157-C-G c.774G>C p.M258I Missense 7/14 - 1
11-78204159-T-C c.772A>G p.M258V Missense 7/14 - 5
11-78204161-T-C c.770A>G p.Y257C Missense 7/14 - 1
11-78204162-A-C c.769T>G p.Y257D Missense 7/14 - 1
11-78204166-C-A c.765G>T p.E255D Missense 7/14 - 1
11-78204167-TC-AG c.763_764delinsCT p.E255L Missense 7/14 - 1
11-78204167-T-G c.764A>C p.E255A Missense 7/14 - 1
11-78204165-ACT-A c.764_765del p.E255Vfs*12 Frameshift 7/14 - 1
11-78204171-C-T c.760G>A p.A254T Missense 7/14 - 1
11-78204172-CAG-GAT c.757_759delinsATC p.L253I Missense 7/14 - 1
11-78204173-A-G c.758T>C p.L253P Missense 7/14 - 1
11-78204182-C-T c.749G>A p.R250Q Missense 7/14 - 5
11-78204181-C-A c.750G>T p.R250= Synonymous 7/14 - 1
11-78204181-C-G c.750G>C p.R250= Synonymous 7/14 - 1
11-78204181-C-T c.750G>A p.R250= Synonymous 7/14 - 1
11-78204183-G-A c.748C>T p.R250W Missense 7/14 - 2
11-78204183-G-C c.748C>G p.R250G Missense 7/14 - 1
11-78204183-G-T c.748C>A p.R250= Synonymous 7/14 - 1
11-78204184-G-A c.747C>T p.S249= Synonymous 7/14 - 1
11-78204189-G-A c.742C>T p.Q248* Nonsense 7/14 - 1
11-78204191-G-T c.740C>A p.S247Y Missense 7/14 - 1
11-78204194-T-A c.737A>T p.N246I Missense 7/14 - 3
11-78204194-T-G c.737A>C p.N246T Missense 7/14 - 2
11-78204196-T-G c.735A>C p.E245D Missense 7/14 - 2
11-78204198-C-T c.733G>A p.E245K Missense 7/14 - 2
11-78204200-G-C c.731C>G p.A244G Missense 7/14 - 5
11-78204203-C-G c.728G>C p.R243P Missense 7/14 - 3
11-78204203-C-T c.728G>A p.R243Q Missense 7/14 - 3
11-78204204-G-C c.727C>G p.R243G Missense 7/14 - 7
11-78204209-G-T c.722C>A p.T241N Missense 7/14 - 1
11-78204211-C-T c.720G>A p.P240= Synonymous 7/14 - 1
11-78204212-G-A c.719C>T p.P240L Missense 7/14 - 6
11-78204212-G-C c.719C>G p.P240R Missense 7/14 - 10
11-78204213-G-C c.718C>G p.P240A Missense 7/14 - 1
11-78204215-C-A c.716G>T p.G239V Missense 7/14 - 3
11-78204215-C-G c.716G>C p.G239A Missense 7/14 - 1
11-78204215-C-T c.716G>A p.G239D Missense 7/14 - 1
11-78204216-C-G c.715G>C p.G239R Missense 7/14 - 1
11-78204216-C-T c.715G>A p.G239S Missense 7/14 - 2
11-78204224-A-C c.707T>G p.F236C Missense 7/14 - 3
11-78204228-C-T c.703G>A p.V235M Missense 7/14 - 2
11-78204230-T-A c.701A>T p.Q234L Missense 7/14 - 1
11-78204233-G-A c.698C>T p.T233I Missense 7/14 - 3
11-78204240-C-A c.691G>T p.A231S Missense 7/14 - 1
11-78204299-T-A c.690-58A>T - IntronicSNV - 6/13 1
11-78204299-T-G c.690-58A>C - IntronicSNV - 6/13 1
11-78204299-T-TA c.690-59dup - IntronicInsertion - 6/13 5
11-78204380-C-T c.690-139G>A - IntronicSNV - 6/13 5
11-78204406-C-T c.690-165G>A - IntronicSNV - 6/13 4
11-78204561-A-G c.690-320T>C - IntronicSNV - 6/13 1
11-78204734-A-G c.690-493T>C - IntronicSNV - 6/13 1
11-78209879-G-A c.690-5638C>T - IntronicSNV - 6/13 1
11-78215082-A-T c.690-10841T>A - IntronicSNV - 6/13 1
11-78215486-T-G c.690-11245A>C - IntronicSNV - 6/13 1
11-78218556-A-T c.690-14315T>A - IntronicSNV - 6/13 1
11-78224734-G-T c.689+15154C>A - IntronicSNV - 6/13 1
11-78229612-A-G c.689+10276T>C - IntronicSNV - 6/13 1
11-78229612-A-T c.689+10276T>A - IntronicSNV - 6/13 1
11-78233808-AT-A c.689+6079del - IntronicDeletion - 6/13 1
11-78239695-T-C c.689+193A>G - IntronicSNV - 6/13 1
11-78239779-TGAACTAATGATAA-T c.689+97_689+109del - IntronicDeletion - 6/13 1
11-78239888-C-G c.689G>C p.G230A Missense 6/14 - 1
11-78239888-C-T c.689G>A p.G230E Missense 6/14 - 1
11-78239889-C-G c.688G>C p.G230R Missense 6/14 - 5
11-78239889-C-T c.688G>A p.G230R Missense 6/14 - 1
11-78239892-A-T c.685T>A p.S229T Missense 6/14 - 2
11-78239897-A-C c.680T>G p.V227G Missense 6/14 - 1
11-78239899-T-A c.678A>T p.E226D Missense 6/14 - 1
11-78239899-T-G c.678A>C p.E226D Missense 6/14 - 1
11-78239906-T-A c.671A>T p.H224L Missense 6/14 - 1
11-78239907-G-A c.670C>T p.H224Y Missense 6/14 - 6
11-78239909-A-C c.668T>G p.L223R Missense 6/14 - 2
11-78239910-G-T c.667C>A p.L223I Missense 6/14 - 1
11-78239912-T-C c.665A>G p.Q222R Missense 6/14 - 2
11-78239918-G-A c.659C>T p.S220L Missense 6/14 - 1
11-78239928-A-C c.649T>G p.L217V Missense 6/14 - 2
11-78239934-C-A c.643G>T p.A215S Missense 6/14 - 1
11-78239936-G-A c.641C>T p.P214L Missense 6/14 - 9
11-78239937-G-A c.640C>T p.P214S Missense 6/14 - 3
11-78239937-G-T c.640C>A p.P214T Missense 6/14 - 5
11-78239938-A-C c.639T>G p.V213= Synonymous 6/14 - 1
11-78239938-A-G c.639T>C p.V213= Synonymous 6/14 - 1
11-78239938-A-T c.639T>A p.V213= Synonymous 6/14 - 1
11-78239940-C-A c.637G>T p.V213F Missense 6/14 - 5
11-78239940-C-T c.637G>A p.V213I Missense 6/14 - 1
11-78239942-T-C c.635A>G p.N212S Missense 6/14 - 3
11-78239946-A-T c.631T>A p.F211I Missense 6/14 - 2
11-78239952-T-C c.625A>G p.N209D Missense 6/14 - 1
11-78239955-C-T c.622G>A p.E208K Missense 6/14 - 1
11-78239957-T-G c.620A>C p.E207A Missense 6/14 - 1
11-78239958-C-T c.619G>A p.E207K Missense 6/14 - 5
11-78239961-G-T c.616C>A p.P206T Missense 6/14 - 1
11-78239962-TAC-CAT c.613_615delinsATG p.V205M Missense 6/14 - 1
11-78239963-A-G c.614T>C p.V205A Missense 6/14 - 1
11-78239964-C-A c.613G>T p.V205L Missense 6/14 - 2
11-78239964-C-T c.613G>A p.V205I Missense 6/14 - 2
11-78239967-T-C c.610A>G p.K204E Missense 6/14 - 1
11-78239969-A-C c.608T>G p.L203R Missense 6/14 - 1
11-78239969-A-G c.608T>C p.L203P Missense 6/14 - 1
11-78239975-C-A c.602G>T p.G201V Missense 6/14 - 2
11-78239976-C-A c.601G>T p.G201C Missense 6/14 - 3
11-78239976-C-T c.601G>A p.G201S Missense 6/14 - 1
11-78239978-G-A c.599C>T p.S200L Missense 6/14 - 2
11-78239981-G-C c.596C>G p.P199R Missense 6/14 - 1
11-78239982-G-T c.595C>A p.P199T Missense 6/14 - 3
11-78244170-C-T c.595-4188G>A - IntronicSNV - 5/13 1
11-78248397-A-G c.595-8415T>C - IntronicSNV - 5/13 2
11-78257662-T-C c.594+12923A>G - IntronicSNV - 5/13 1
11-78270304-A-G c.594+281T>C - IntronicSNV - 5/13 1
11-78270584-C-T c.594+1G>A - IntronicSNV - 5/13 1
11-78270587-C-T c.592G>A p.E198K Missense 5/14 - 1
11-78270590-G-A c.589C>T p.L197F Missense 5/14 - 2
11-78270590-G-C c.589C>G p.L197V Missense 5/14 - 2
11-78270593-G-T c.586C>A p.Q196K Missense 5/14 - 1
11-78270595-A-G c.584T>C p.F195S Missense 5/14 - 2
11-78270602-C-A c.577G>T p.E193* Nonsense 5/14 - 2
11-78270604-C-G c.575G>C p.G192A Missense 5/14 - 1
11-78270604-C-T c.575G>A p.G192E Missense 5/14 - 1
11-78270607-G-C c.572C>G p.A191G Missense 5/14 - 1
11-78270611-C-G c.568G>C p.G190R Missense 5/14 - 1
11-78270611-C-T c.568G>A p.G190R Missense 5/14 - 1
11-78270614-C-T c.565G>A p.E189K Missense 5/14 - 3
11-78270615-A-C c.564T>G p.S188= Synonymous 5/14 - 1
11-78270615-A-G c.564T>C p.S188= Synonymous 5/14 - 1
11-78270615-A-T c.564T>A p.S188= Synonymous 5/14 - 1
11-78270616-G-A c.563C>T p.S188F Missense 5/14 - 1
11-78270616-G-C c.563C>G p.S188C Missense 5/14 - 1
11-78270620-C-T c.559G>A p.D187N Missense 5/14 - 1
11-78270621-A-G c.558T>C p.N186= Synonymous 5/14 - 1
11-78270622-T-C c.557A>G p.N186S Missense 5/14 - 2
11-78270623-T-C c.556A>G p.N186D Missense 5/14 - 2
11-78270625-G-A c.554C>T p.S185F Missense 5/14 - 1
11-78270625-G-C c.554C>G p.S185C Missense 5/14 - 2
11-78270630-G-A c.549C>T p.I183= Synonymous 5/14 - 1
11-78270632-T-C c.547A>G p.I183V Missense 5/14 - 1
11-78270634-A-G c.545T>C p.I182T Missense 5/14 - 1
11-78270634-A-T c.545T>A p.I182K Missense 5/14 - 1
11-78270635-T-C c.544A>G p.I182V Missense 5/14 - 2
11-78270637-G-T c.542C>A p.P181Q Missense 5/14 - 1
11-78270640-G-A c.539C>T p.T180I Missense 5/14 - 1
11-78270642-A-C c.537T>G p.H179Q Missense 5/14 - 1
11-78270642-A-T c.537T>A p.H179Q Missense 5/14 - 1
11-78270643-T-C c.536A>G p.H179R Missense 5/14 - 2
11-78270649-T-C c.530A>G p.H177R Missense 5/14 - 1
11-78270650-G-C c.529C>G p.H177D Missense 5/14 - 3
11-78270651-T-TGG c.527_528insCC p.H179Ffs*5 Frameshift 5/14 - 1
11-78270652-A-AACACAGAGAAAAGTGTACGCCCTGCAGCCAACTCC c.526_527insGGAGTTGGCTGCAGGGCGTACACTTTTCTCTGTGT p.V176Gfs*19 Frameshift 5/14 - 1
11-78270653-C-A c.526G>T p.V176L Missense 5/14 - 1
11-78270653-C-G c.526G>C p.V176L Missense 5/14 - 1
11-78270655-A-G c.524T>C p.F175S Missense 5/14 - 1
11-78270659-C-T c.520G>A p.G174S Missense 5/14 - 2
11-78270661-C-G c.518G>C p.S173T Missense 5/14 - 1
11-78270661-C-T c.518G>A p.S173N Missense 5/14 - 1
11-78270662-T-C c.517A>G p.S173G Missense 5/14 - 2
11-78270665-C-G c.514G>C p.D172H Missense 5/14 - 3
11-78270665-C-T c.514G>A p.D172N Missense 5/14 - 1
11-78270668-G-A c.514-3C>T - IntronicSNV - 4/13 1
11-78276025-T-C c.513+1153A>G - IntronicSNV - 4/13 1
11-78277178-C-A c.513G>T p.K171N Missense 4/14 - 3
11-78277178-C-G c.513G>C p.K171N Missense 4/14 - 2
11-78277182-A-C c.509T>G p.F170C Missense 4/14 - 1
11-78277185-A-C c.506T>G p.F169C Missense 4/14 - 2
11-78277185-A-G c.506T>C p.F169S Missense 4/14 - 1
11-78277185-A-T c.506T>A p.F169Y Missense 4/14 - 2
11-78277186-A-G c.505T>C p.F169L Missense 4/14 - 2
11-78277187-A-G c.504T>C p.S168= Synonymous 4/14 - 1
11-78277187-A-T c.504T>A p.S168= Synonymous 4/14 - 1
11-78277191-T-C c.500A>G p.H167R Missense 4/14 - 4
11-78277192-G-A c.499C>T p.H167Y Missense 4/14 - 1
11-78277197-G-C c.494C>G p.A165G Missense 4/14 - 3
11-78277201-C-T c.490G>A p.A164T Missense 4/14 - 1
11-78277202-T-C c.489A>G p.T163= Synonymous 4/14 - 2
11-78277202-TG-GT c.488_489delinsAC p.T163N Missense 4/14 - 1
11-78277204-T-C c.487A>G p.T163A Missense 4/14 - 2
11-78277205-C-T c.486G>A p.A162= Synonymous 4/14 - 1
11-78277206-G-A c.485C>T p.A162V Missense 4/14 - 2
11-78277206-G-T c.485C>A p.A162E Missense 4/14 - 1
11-78277212-CT-AA c.478_479delinsTT p.S160F Missense 4/14 - 1
11-78277215-C-A c.476G>T p.R159L Missense 4/14 - 2
11-78277215-C-T c.476G>A p.R159H Missense 4/14 - 3
11-78277216-G-A c.475C>T p.R159C Missense 4/14 - 5
11-78277216-G-T c.475C>A p.R159S Missense 4/14 - 1
11-78277218-A-G c.473T>C p.I158T Missense 4/14 - 1
11-78277219-T-A c.472A>T p.I158F Missense 4/14 - 2
11-78277219-T-C c.472A>G p.I158V Missense 4/14 - 2
11-78277222-T-C c.469A>G p.R157G Missense 4/14 - 1
11-78277224-AA-CT c.466_467delinsAG p.L156R Missense 4/14 - 1
11-78277225-A-C c.466T>G p.L156V Missense 4/14 - 1
11-78277225-A-T c.466T>A p.L156M Missense 4/14 - 1
11-78277226-T-C c.465A>G p.I155M Missense 4/14 - 1
11-78277228-T-C c.463A>G p.I155V Missense 4/14 - 1
11-78277234-C-G c.457G>C p.G153R Missense 4/14 - 1
11-78277236-A-T c.455T>A p.L152Q Missense 4/14 - 1
11-78277237-G-C c.454C>G p.L152V Missense 4/14 - 1
11-78277239-A-G c.452T>C p.V151A Missense 4/14 - 1
11-78277240-C-T c.451G>A p.V151I Missense 4/14 - 5
11-78277241-G-A c.450C>T p.N150= Synonymous 4/14 - 1
11-78277242-T-G c.449A>C p.N150T Missense 4/14 - 1
11-78277243-T-C c.448A>G p.N150D Missense 4/14 - 1
11-78277245-GT-CC c.445_446delinsGG p.T149G Missense 4/14 - 1
11-78277246-T-A c.445A>T p.T149S Missense 4/14 - 1
11-78277247-C-A c.444G>T p.R148S Missense 4/14 - 4
11-78277247-C-G c.444G>C p.R148S Missense 4/14 - 2
11-78277251-C-T c.440G>A p.C147Y Missense 4/14 - 1
11-78277253-C-T c.438G>A p.R146= Synonymous 4/14 - 2
11-78277254-C-G c.437G>C p.R146T Missense 4/14 - 1
11-78277254-C-T c.437G>A p.R146K Missense 4/14 - 1
11-78277260-T-C c.431A>G p.H144R Missense 4/14 - 3
11-78277262-A-C c.429T>G p.P143= Synonymous 4/14 - 1
11-78277262-A-G c.429T>C p.P143= Synonymous 4/14 - 1
11-78277262-A-T c.429T>A p.P143= Synonymous 4/14 - 1
11-78277263-G-C c.428C>G p.P143R Missense 4/14 - 2
11-78277267-A-G c.424T>C p.Y142H Missense 4/14 - 1
11-78277268-T-C c.423A>G p.Q141= Synonymous 4/14 - 3
11-78277269-T-C c.422A>G p.Q141R Missense 4/14 - 2
11-78277269-T-G c.422A>C p.Q141P Missense 4/14 - 2
11-78277272-C-G c.419G>C p.R140P Missense 4/14 - 1
11-78277272-C-T c.419G>A p.R140Q Missense 4/14 - 3
11-78277273-G-A c.418C>T p.R140* Nonsense 4/14 - 2
11-78277275-A-G c.416T>C p.L139P Missense 4/14 - 2
11-78277277-A-C c.414T>G p.Y138* Nonsense 4/14 - 4
11-78277277-A-G c.414T>C p.Y138= Synonymous 4/14 - 25
11-78277277-A-T c.414T>A p.Y138* Nonsense 4/14 - 4
11-78277278-T-C c.413A>G p.Y138C Missense 4/14 - 1
11-78277280-C-A c.411G>T p.E137D Missense 4/14 - 2
11-78277280-C-G c.411G>C p.E137D Missense 4/14 - 5
11-78277281-T-C c.410A>G p.E137G Missense 4/14 - 1
11-78277282-C-A c.409G>T p.E137* Nonsense 4/14 - 1
11-78277282-C-G c.409G>C p.E137Q Missense 4/14 - 1
11-78277287-G-A c.404C>T p.P135L Missense 4/14 - 1
11-78277287-G-T c.404C>A p.P135H Missense 4/14 - 1
11-78277290-T-C c.401A>G p.H134R Missense 4/14 - 1
11-78277291-G-A c.400C>T p.H134Y Missense 4/14 - 1
11-78277292-C-A c.399G>T p.R133S Missense 4/14 - 1
11-78277292-C-T c.399G>A p.R133= Synonymous 4/14 - 1
11-78277295-C-A c.396G>T p.E132D Missense 4/14 - 1
11-78277295-C-G c.396G>C p.E132D Missense 4/14 - 1
11-78277297-C-G c.394G>C p.E132Q Missense 4/14 - 1
11-78277299-T-C c.392A>G p.K131R Missense 4/14 - 2
11-78277302-T-C c.389A>G p.Y130C Missense 4/14 - 1
11-78277306-T-C c.385A>G p.K129E Missense 4/14 - 1
11-78277309-T-G c.382A>C p.I128L Missense 4/14 - 1
11-78277312-G-A c.379C>T p.P127S Missense 4/14 - 4
11-78277313-G-A c.378C>T p.F126= Synonymous 4/14 - 1
11-78277313-G-T c.378C>A p.F126L Missense 4/14 - 3
11-78277313-G-C c.378C>G p.F126L Missense 4/14 - 2
11-78277315-A-G c.376T>C p.F126L Missense 4/14 - 2
11-78277315-A-T c.376T>A p.F126I Missense 4/14 - 1
11-78277317-T-C c.374A>G p.D125G Missense 4/14 - 3
11-78278442-A-T c.373-1124T>A - IntronicSNV - 3/13 1
11-78279678-C-A c.372G>T p.K124N Missense 3/14 - 1
11-78279678-C-G c.372G>C p.K124N Missense 3/14 - 1
11-78279679-T-C c.371A>G p.K124R Missense 3/14 - 1
11-78279684-A-C c.366T>G p.D122E Missense 3/14 - 2
11-78279686-C-T c.364G>A p.D122N Missense 3/14 - 2
11-78279697-A-G c.353T>C p.I118T Missense 3/14 - 4
11-78279707-T-C c.343A>G p.I115V Missense 3/14 - 2
11-78279707-T-G c.343A>C p.I115L Missense 3/14 - 1
11-78279708-T-A c.342A>T p.K114N Missense 3/14 - 1
11-78279708-T-G c.342A>C p.K114N Missense 3/14 - 1
11-78279713-C-T c.337G>A p.E113K Missense 3/14 - 1
11-78279716-C-T c.334G>A p.A112T Missense 3/14 - 1
11-78279717-C-G c.333G>C p.K111N Missense 3/14 - 2
11-78279720-C-T c.330G>A p.L110= Synonymous 3/14 - 1
11-78279723-T-C c.327A>G p.E109= Synonymous 3/14 - 2
11-78279725-C-G c.325G>C p.E109Q Missense 3/14 - 2
11-78279726-C-A c.324G>T p.V108= Synonymous 3/14 - 2
11-78279726-C-G c.324G>C p.V108= Synonymous 3/14 - 2
11-78279726-C-T c.324G>A p.V108= Synonymous 3/14 - 2
11-78279727-A-C c.323T>G p.V108G Missense 3/14 - 1
11-78279734-G-A c.316C>T p.Q106* Nonsense 3/14 - 1
11-78279736-CT-GG c.313_314delinsCC p.R105P Missense 3/14 - 2
11-78279738-T-A c.312A>T p.K104N Missense 3/14 - 1
11-78279738-T-G c.312A>C p.K104N Missense 3/14 - 1
11-78279739-T-C c.311A>G p.K104R Missense 3/14 - 2
11-78279736-CT-C c.313del p.R105Gfs*6 Frameshift 3/14 - 1
11-78279741-G-C c.309C>G p.S103= Synonymous 3/14 - 1
11-78279742-G-A c.308C>T p.S103F Missense 3/14 - 1
11-78279746-G-A c.304C>T p.P102S Missense 3/14 - 2
11-78279748-C-G c.302G>C p.S101T Missense 3/14 - 8
11-78279749-T-C c.301A>G p.S101G Missense 3/14 - 2
11-78279755-T-A c.295A>T p.I99L Missense 3/14 - 1
11-78279756-C-A c.294G>T p.L98= Synonymous 3/14 - 1
11-78279761-G-A c.289C>T p.Q97* Nonsense 3/14 - 1
11-78279763-C-G c.287G>C p.G96A Missense 3/14 - 2
11-78279764-C-A c.286G>T p.G96W Missense 3/14 - 1
11-78279764-C-G c.286G>C p.G96R Missense 3/14 - 1
11-78279764-C-T c.286G>A p.G96R Missense 3/14 - 1
11-78279765-T-A c.285A>T p.Q95H Missense 3/14 - 1
11-78279773-C-A c.277G>T p.E93* Nonsense 3/14 - 1
11-78279776-C-T c.274G>A p.V92M Missense 3/14 - 1
11-78279778-G-A c.272C>T p.S91F Missense 3/14 - 3
11-78279778-G-C c.272C>G p.S91C Missense 3/14 - 2
11-78279781-C-A c.269G>T p.S90I Missense 3/14 - 1
11-78279785-C-G c.265G>C p.G89R Missense 3/14 - 1
11-78279785-C-T c.265G>A p.G89R Missense 3/14 - 2
11-78279790-T-A c.260A>T p.N87I Missense 3/14 - 1
11-78279790-T-G c.260A>C p.N87T Missense 3/14 - 45
11-78279797-C-T c.253G>A p.E85K Missense 3/14 - 1
11-78279801-A-T c.252-3T>A - IntronicSNV - 2/13 1
11-78279803-A-G c.252-5T>C - IntronicSNV - 2/13 1
11-78281438-G-T c.251+942C>A - IntronicSNV - 2/13 1
11-78282380-CCTACTGTCAAGGCCTGAATCTGCAACAACCTGAAGGCTTTCCAAAGATGACCCATCATT-C c.193_251del p.N65Rfs*32 SpliceDonorDeletion 2/14 - 1
11-78282377-CACCTACTGTCAAGGCCTGAATCTGCAACA-C c.225_251+2del - SpliceDonorDeletion 2/14 - 1
11-78282383-C-T c.248G>A p.S83N Missense 2/14 - 2
11-78282384-T-C c.247A>G p.S83G Missense 2/14 - 1
11-78282386-T-C c.245A>G p.D82G Missense 2/14 - 2
11-78282392-C-A c.239G>T p.G80V Missense 2/14 - 1
11-78282399-C-T c.232G>A p.D78N Missense 2/14 - 2
11-78282404-A-G c.227T>C p.V76A Missense 2/14 - 1
11-78282405-C-T c.226G>A p.V76I Missense 2/14 - 1
11-78282407-A-G c.224T>C p.V75A Missense 2/14 - 1
11-78282408-C-T c.223G>A p.V75I Missense 2/14 - 1
11-78282409-C-A c.222G>T p.Q74H Missense 2/14 - 1
11-78282409-C-G c.222G>C p.Q74H Missense 2/14 - 1
11-78282410-T-C c.221A>G p.Q74R Missense 2/14 - 1
11-78282411-G-A c.220C>T p.Q74* Nonsense 2/14 - 1
11-78282412-A-C c.219T>G p.L73= Synonymous 2/14 - 1
11-78282412-A-G c.219T>C p.L73= Synonymous 2/14 - 1
11-78282412-A-T c.219T>A p.L73= Synonymous 2/14 - 1
11-78282414-G-A c.217C>T p.L73F Missense 2/14 - 1
11-78282419-T-C c.212A>G p.E71G Missense 2/14 - 1
11-78282420-C-T c.211G>A p.E71K Missense 2/14 - 5
11-78282423-A-T c.208T>A p.L70M Missense 2/14 - 4
11-78282421-CA-C c.209del p.L70Wfs*17 Frameshift 2/14 - 1
11-78282421-C-CA c.209dup p.L70Ffs*13 Frameshift 2/14 - 1
11-78282424-A-G c.207T>C p.S69= Synonymous 2/14 - 1
11-78282425-G-A c.206C>T p.S69F Missense 2/14 - 1
11-78282425-G-C c.206C>G p.S69C Missense 2/14 - 2
11-78282428-G-A c.203C>T p.S68L Missense 2/14 - 2
11-78282434-T-C c.197A>G p.D66G Missense 2/14 - 1
11-78282437-T-C c.194A>G p.N65S Missense 2/14 - 1
11-78282441-C-T c.190G>A p.V64I Missense 2/14 - 1
11-78282443-T-C c.188A>G p.H63R Missense 2/14 - 2
11-78282445-C-A c.186G>T p.L62= Synonymous 2/14 - 1
11-78282445-C-G c.186G>C p.L62= Synonymous 2/14 - 1
11-78282445-C-T c.186G>A p.L62= Synonymous 2/14 - 1
11-78282447-G-A c.184C>T p.L62= Synonymous 2/14 - 1
11-78282446-A-G c.185T>C p.L62P Missense 2/14 - 3
11-78282446-AG-GA c.184_185delinsTC p.L62S Missense 2/14 - 1
11-78282451-C-G c.180G>C p.L60F Missense 2/14 - 1
11-78282456-C-T c.175G>A p.V59I Missense 2/14 - 2
11-78282458-T-A c.173A>T p.E58V Missense 2/14 - 1
11-78282460-C-G c.171G>C p.K57N Missense 2/14 - 1
11-78282461-T-C c.170A>G p.K57R Missense 2/14 - 1
11-78282462-T-C c.169A>G p.K57E Missense 2/14 - 1
11-78282464-T-C c.167A>G p.Q56R Missense 2/14 - 3
11-78282464-T-G c.167A>C p.Q56P Missense 2/14 - 1
11-78282465-G-C c.166C>G p.Q56E Missense 2/14 - 1
11-78282466-G-A c.165C>T p.S55= Synonymous 2/14 - 1
11-78282470-C-T c.161G>A p.R54Q Missense 2/14 - 4
11-78282471-G-A c.160C>T p.R54* Nonsense 2/14 - 4
11-78282471-G-C c.160C>G p.R54G Missense 2/14 - 2
11-78282473-A-G c.158T>C p.V53A Missense 2/14 - 1
11-78282479-C-T c.152G>A p.R51H Missense 2/14 - 1
11-78282479-C-CGG c.151_152insCC p.R51Pfs*15 Frameshift 2/14 - 1
11-78282480-G-A c.151C>T p.R51C Missense 2/14 - 12
11-78282480-G-T c.151C>A p.R51S Missense 2/14 - 2
11-78282481-A-AACACAGAGAAAAGTGTACGCCCTGCAGCCAACTCC c.149_150insGGAGTTGGCTGCAGGGCGTACACTTTTCTCTGTGT p.I50Mfs*27 Frameshift 2/14 - 1
11-78282486-A-G c.145T>C p.W49R Missense 2/14 - 1
11-78282488-CC-AG c.142_143delinsCT p.G48L Missense 2/14 - 1
11-78282489-C-A c.142G>T p.G48* Nonsense 2/14 - 1
11-78282489-C-T c.142G>A p.G48R Missense 2/14 - 1
11-78282509-C-G c.142-20G>C - IntronicSNV - 1/13 2
11-78282520-G-A c.142-31C>T - IntronicSNV - 1/13 1
11-78282632-T-C c.142-143A>G - IntronicSNV - 1/13 6
11-78284453-T-C c.141+940A>G - IntronicSNV - 1/13 1
11-78284453-T-G c.141+940A>C - IntronicSNV - 1/13 1
11-78284470-A-G c.141+923T>C - IntronicSNV - 1/13 1
11-78284545-C-A c.141+848G>T - IntronicSNV - 1/13 1
11-78284545-C-T c.141+848G>A - IntronicSNV - 1/13 1
11-78284822-T-A c.141+571A>T - IntronicSNV - 1/13 1
11-78285096-T-G c.141+297A>C - IntronicSNV - 1/13 1
11-78285359-C-T c.141+34G>A - IntronicSNV - 1/13 1
11-78285394-T-C c.140A>G p.Q47R Missense 1/14 - 1
11-78285396-G-A c.138C>T p.I46= Synonymous 1/14 - 2
11-78285396-G-T c.138C>A p.I46= Synonymous 1/14 - 1
11-78285406-C-A c.128G>T p.R43L Missense 1/14 - 1
11-78285406-C-G c.128G>C p.R43P Missense 1/14 - 1
11-78285406-CG-GT c.127_128delinsAC p.R43T Missense 1/14 - 1
11-78285406-C-T c.128G>A p.R43H Missense 1/14 - 1
11-78285407-G-A c.127C>T p.R43C Missense 1/14 - 1
11-78285409-T-C c.125A>G p.E42G Missense 1/14 - 1
11-78285411-C-A c.123G>T p.G41= Synonymous 1/14 - 1
11-78285412-C-T c.122G>A p.G41E Missense 1/14 - 2
11-78285409-T-TC c.124dup p.E42Gfs*4 Frameshift 1/14 - 1
11-78285413-C-G c.121G>C p.G41R Missense 1/14 - 1
11-78285413-C-T c.121G>A p.G41R Missense 1/14 - 2
11-78285415-CT-AA c.118_119delinsTT p.S40F Missense 1/14 - 2
11-78285417-C-A c.117G>T p.A39= Synonymous 1/14 - 1
11-78285417-C-G c.117G>C p.A39= Synonymous 1/14 - 1
11-78285417-C-T c.117G>A p.A39= Synonymous 1/14 - 1
11-78285418-G-A c.116C>T p.A39V Missense 1/14 - 1
11-78285418-G-C c.116C>G p.A39G Missense 1/14 - 1
11-78285419-C-A c.115G>T p.A39S Missense 1/14 - 1
11-78285421-T-A c.113A>T p.N38I Missense 1/14 - 1
11-78285424-T-C c.110A>G p.Q37R Missense 1/14 - 1
11-78285425-G-C c.109C>G p.Q37E Missense 1/14 - 5
11-78285429-C-A c.105G>T p.G35= Synonymous 1/14 - 1
11-78285429-C-G c.105G>C p.G35= Synonymous 1/14 - 1
11-78285429-C-T c.105G>A p.G35= Synonymous 1/14 - 1
11-78285431-C-A c.103G>T p.G35W Missense 1/14 - 3
11-78285431-C-G c.103G>C p.G35R Missense 1/14 - 1
11-78285432-G-A c.102C>T p.L34= Synonymous 1/14 - 1
11-78285432-G-C c.102C>G p.L34= Synonymous 1/14 - 1
11-78285432-G-T c.102C>A p.L34= Synonymous 1/14 - 1
11-78285434-G-A c.100C>T p.L34F Missense 1/14 - 1
11-78285434-G-C c.100C>G p.L34V Missense 1/14 - 1
11-78285434-G-T c.100C>A p.L34I Missense 1/14 - 2
11-78285436-G-A c.98C>T p.A33V Missense 1/14 - 2
11-78285437-C-G c.97G>C p.A33P Missense 1/14 - 1
11-78285440-C-A c.94G>T p.D32Y Missense 1/14 - 1
11-78285441-C-CGGA c.92_93insTCC p.R31_D32insP InFrameInsertion 1/14 - 1
11-78285443-G-A c.91C>T p.R31W Missense 1/14 - 1
11-78285446-C-G c.88G>C p.V30L Missense 1/14 - 1
11-78285448-C-G c.86G>C p.S29T Missense 1/14 - 1
11-78285448-CT-GC c.85_86delinsGC p.S29A Missense 1/14 - 1
11-78285450-TCA-T c.83_84del p.L28Qfs*17 Frameshift 1/14 - 1
11-78285451-A-G c.83T>C p.L28P Missense 1/14 - 2
11-78285454-T-C c.80A>G p.K27R Missense 1/14 - 2
11-78285454-T-G c.80A>C p.K27T Missense 1/14 - 1
11-78285457-GC-CA c.76_77delinsTG p.A26C Missense 1/14 - 1
11-78285457-G-T c.77C>A p.A26D Missense 1/14 - 4
11-78285465-T-G c.69A>C p.K23N Missense 1/14 - 2
11-78285468-G-C c.66C>G p.H22Q Missense 1/14 - 1
11-78285470-G-A c.64C>T p.H22Y Missense 1/14 - 1
11-78285475-G-A c.59C>T p.P20L Missense 1/14 - 1
11-78285475-G-C c.59C>G p.P20R Missense 1/14 - 1
11-78285475-G-T c.59C>A p.P20H Missense 1/14 - 1
11-78285476-G-C c.58C>G p.P20A Missense 1/14 - 2
11-78285480-G-C c.54C>G p.P18= Synonymous 1/14 - 2
11-78285481-G-A c.53C>T p.P18L Missense 1/14 - 1
11-78285482-G-A c.52C>T p.P18S Missense 1/14 - 1
11-78285482-G-C c.52C>G p.P18A Missense 1/14 - 2
11-78285483-G-A c.51C>T p.A17= Synonymous 1/14 - 1
11-78285483-G-C c.51C>G p.A17= Synonymous 1/14 - 1
11-78285483-G-T c.51C>A p.A17= Synonymous 1/14 - 1
11-78285484-G-A c.50C>T p.A17V Missense 1/14 - 3
11-78285484-G-T c.50C>A p.A17D Missense 1/14 - 1
11-78285485-C-T c.49G>A p.A17T Missense 1/14 - 1
11-78285486-G-A c.48C>T p.S16= Synonymous 1/14 - 1
11-78285487-G-A c.47C>T p.S16F Missense 1/14 - 2
11-78285487-G-T c.47C>A p.S16Y Missense 1/14 - 1
11-78285488-A-C c.46T>G p.S16A Missense 1/14 - 1
11-78285490-G-A c.44C>T p.S15F Missense 1/14 - 3
11-78285491-A-G c.43T>C p.S15P Missense 1/14 - 1
11-78285492-A-G c.42T>C p.C14= Synonymous 1/14 - 1
11-78285499-C-A c.35G>T p.R12L Missense 1/14 - 1
11-78285504-G-A c.30C>T p.S10= Synonymous 1/14 - 1
11-78285504-G-C c.30C>G p.S10= Synonymous 1/14 - 1
11-78285504-G-T c.30C>A p.S10= Synonymous 1/14 - 1
11-78285505-GA-TC c.28_29inv p.S10D Missense 1/14 - 1
11-78285505-G-C c.29C>G p.S10C Missense 1/14 - 1
11-78285506-A-C c.28T>G p.S10A Missense 1/14 - 1
11-78285508-C-G c.26G>C p.R9P Missense 1/14 - 3
11-78285508-C-T c.26G>A p.R9Q Missense 1/14 - 1
11-78285509-G-A c.25C>T p.R9W Missense 1/14 - 1
11-78285517-C-G c.17G>C p.C6S Missense 1/14 - 1
11-78285520-C-A c.14G>T p.R5L Missense 1/14 - 1
11-78285522-G-A c.12C>T p.V4= Synonymous 1/14 - 1
11-78285522-G-C c.12C>G p.V4= Synonymous 1/14 - 1
11-78285522-G-T c.12C>A p.V4= Synonymous 1/14 - 1
11-78285524-C-A c.10G>T p.V4F Missense 1/14 - 1
11-78285524-C-G c.10G>C p.V4L Missense 1/14 - 1
11-78285527-C-G c.7G>C p.G3R Missense 1/14 - 3
11-78285527-C-T c.7G>A p.G3R Missense 1/14 - 1
11-78285523-A-AC c.10dup p.V4Gfs*42 Frameshift 1/14 - 1
11-78285531-C-A c.3G>T p.M1? Missense 1/14 - 1
11-78285875-A-C c.-342T>G - 5-UTRSNV 1/14 - 7
11-78285875-A-T c.-342T>A - 5-UTRSNV 1/14 - 7