TRAPPC8

TRAPPC8 trafficking protein particle complex subunit 8

Annotation transcript: NM_014939.5

1170 unique variant annotations were identified in 424 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
18-29409319-C-T c.*1399G>A - 3-UTRSNV 29/29 - 1
18-29410068-C-A c.*650G>T - 3-UTRSNV 29/29 - 2
18-29410068-C-T c.*650G>A - 3-UTRSNV 29/29 - 2
18-29410479-T-A c.*239A>T - 3-UTRSNV 29/29 - 2
18-29410643-G-A c.*75C>T - 3-UTRSNV 29/29 - 1
18-29410726-T-C c.4300A>G p.N1434D Missense 29/29 - 1
18-29410736-G-A c.4290C>T p.I1430= Synonymous 29/29 - 1
18-29410761-T-A c.4265A>T p.Q1422L Missense 29/29 - 1
18-29410769-T-C c.4257A>G p.E1419= Synonymous 29/29 - 1
18-29410772-A-G c.4254T>C p.F1418= Synonymous 29/29 - 1
18-29410774-A-G c.4252T>C p.F1418L Missense 29/29 - 1
18-29410779-G-A c.4247C>T p.T1416I Missense 29/29 - 1
18-29410784-T-G c.4242A>C p.Q1414H Missense 29/29 - 1
18-29410790-C-A c.4236G>T p.S1412= Synonymous 29/29 - 1
18-29410790-C-G c.4236G>C p.S1412= Synonymous 29/29 - 1
18-29410790-C-T c.4236G>A p.S1412= Synonymous 29/29 - 1
18-29410791-G-A c.4235C>T p.S1412L Missense 29/29 - 2
18-29410792-A-G c.4234T>C p.S1412P Missense 29/29 - 2
18-29410809-C-A c.4217G>T p.R1406M Missense 29/29 - 1
18-29410810-T-A c.4216A>T p.R1406W Missense 29/29 - 1
18-29410812-G-A c.4214C>T p.P1405L Missense 29/29 - 2
18-29410813-G-A c.4213C>T p.P1405S Missense 29/29 - 2
18-29410818-C-T c.4208G>A p.G1403E Missense 29/29 - 1
18-29410820-A-C c.4206T>G p.L1402= Synonymous 29/29 - 1
18-29410820-A-G c.4206T>C p.L1402= Synonymous 29/29 - 1
18-29410820-A-T c.4206T>A p.L1402= Synonymous 29/29 - 1
18-29410822-G-A c.4204C>T p.L1402F Missense 29/29 - 1
18-29410823-G-A c.4203C>T p.N1401= Synonymous 29/29 - 1
18-29410833-C-T c.4193G>A p.G1398D Missense 29/29 - 1
18-29410834-C-T c.4192G>A p.G1398S Missense 29/29 - 1
18-29410856-C-A c.4170G>T p.L1390= Synonymous 29/29 - 1
18-29410856-C-G c.4170G>C p.L1390= Synonymous 29/29 - 1
18-29410856-C-T c.4170G>A p.L1390= Synonymous 29/29 - 1
18-29410858-G-A c.4168C>T p.L1390= Synonymous 29/29 - 2
18-29410884-T-A c.4142A>T p.K1381I Missense 29/29 - 1
18-29410886-A-C c.4140T>G p.L1380= Synonymous 29/29 - 1
18-29410886-A-G c.4140T>C p.L1380= Synonymous 29/29 - 2
18-29410896-T-G c.4130A>C p.K1377T Missense 29/29 - 1
18-29410900-A-G c.4126T>C p.Y1376H Missense 29/29 - 4
18-29410907-T-C c.4119A>G p.Q1373= Synonymous 29/29 - 2
18-29410911-C-G c.4115G>C p.G1372A Missense 29/29 - 1
18-29410915-G-A c.4111C>T p.L1371F Missense 29/29 - 4
18-29410919-T-C c.4107A>G p.T1369= Synonymous 29/29 - 1
18-29410920-G-A c.4106C>T p.T1369I Missense 29/29 - 1
18-29410920-GTGAA-G c.4102_4105del p.F1368Hfs*22 Frameshift 29/29 - 1
18-29410926-G-A c.4100C>T p.S1367L Missense 29/29 - 1
18-29410930-C-A c.4096G>T p.G1366* Nonsense 29/29 - 2
18-29410939-C-A c.4087G>T p.E1363* Nonsense 29/29 - 1
18-29410945-C-T c.4081G>A p.A1361T Missense 29/29 - 1
18-29410948-C-T c.4078G>A p.E1360K Missense 29/29 - 1
18-29411054-G-A c.4074-102C>T - IntronicSNV - 28/28 1
18-29411465-G-A c.4074-513C>T - IntronicSNV - 28/28 1
18-29412046-C-T c.4073+1G>A - IntronicSNV - 28/28 1
18-29412047-CT-AG c.4072_4073inv p.S1358L Missense 28/29 - 2
18-29412062-C-T c.4058G>A p.R1353Q Missense 28/29 - 1
18-29412072-C-G c.4048G>C p.V1350L Missense 28/29 - 1
18-29412082-T-A c.4038A>T p.V1346= Synonymous 28/29 - 1
18-29412082-T-C c.4038A>G p.V1346= Synonymous 28/29 - 1
18-29412082-T-G c.4038A>C p.V1346= Synonymous 28/29 - 1
18-29412084-C-A c.4036G>T p.V1346L Missense 28/29 - 1
18-29412084-C-G c.4036G>C p.V1346L Missense 28/29 - 3
18-29412084-C-T c.4036G>A p.V1346I Missense 28/29 - 1
18-29412097-A-G c.4023T>C p.C1341= Synonymous 28/29 - 1
18-29412101-T-C c.4019A>G p.N1340S Missense 28/29 - 2
18-29412105-A-C c.4015T>G p.S1339A Missense 28/29 - 4
18-29412105-A-G c.4015T>C p.S1339P Missense 28/29 - 1
18-29412105-A-T c.4015T>A p.S1339T Missense 28/29 - 1
18-29412124-T-A c.3996A>T p.V1332= Synonymous 28/29 - 1
18-29412124-T-C c.3996A>G p.V1332= Synonymous 28/29 - 1
18-29412124-T-G c.3996A>C p.V1332= Synonymous 28/29 - 1
18-29412131-C-CA c.3988dup p.C1330Lfs*14 Frameshift 28/29 - 1
18-29419276-T-TA c.3981_3982insT p.S1328* SpliceDonorInsertion 27/29 - 1
18-29419276-T-TC c.3981_3982insG p.S1328Efs*16 SpliceDonorInsertion 27/29 - 1
18-29419276-T-TG c.3981_3982insC p.S1328Qfs*16 SpliceDonorInsertion 27/29 - 1
18-29419280-T-C c.3978A>G p.Q1326= Synonymous 27/29 - 3
18-29419275-C-CT c.3982dup p.S1328Kfs*16 SpliceDonorInsertion 27/29 - 1
18-29419283-A-C c.3975T>G p.H1325Q Missense 27/29 - 1
18-29419283-A-T c.3975T>A p.H1325Q Missense 27/29 - 1
18-29419293-T-C c.3965A>G p.H1322R Missense 27/29 - 1
18-29419299-A-C c.3959T>G p.F1320C Missense 27/29 - 2
18-29419302-G-A c.3956C>T p.S1319L Missense 27/29 - 5
18-29419303-A-G c.3955T>C p.S1319P Missense 27/29 - 1
18-29419306-C-G c.3952G>C p.E1318Q Missense 27/29 - 1
18-29419309-G-A c.3949C>T p.P1317S Missense 27/29 - 1
18-29419318-G-A c.3940C>T p.L1314F Missense 27/29 - 1
18-29419344-T-C c.3914A>G p.Q1305R Missense 27/29 - 1
18-29419348-C-T c.3910G>A p.E1304K Missense 27/29 - 1
18-29419357-G-A c.3901C>T p.P1301S Missense 27/29 - 3
18-29419366-A-G c.3892T>C p.S1298P Missense 27/29 - 3
18-29419376-G-A c.3882C>T p.N1294= Synonymous 27/29 - 1
18-29419381-C-T c.3877G>A p.E1293K Missense 27/29 - 2
18-29419382-T-A c.3876A>T p.P1292= Synonymous 27/29 - 1
18-29419382-T-C c.3876A>G p.P1292= Synonymous 27/29 - 1
18-29419382-T-G c.3876A>C p.P1292= Synonymous 27/29 - 1
18-29419386-C-T c.3872G>A p.R1291K Missense 27/29 - 1
18-29419388-G-C c.3870C>G p.F1290L Missense 27/29 - 1
18-29419388-G-T c.3870C>A p.F1290L Missense 27/29 - 1
18-29419390-A-G c.3868T>C p.F1290L Missense 27/29 - 1
18-29419392-A-C c.3866T>G p.F1289C Missense 27/29 - 1
18-29419394-T-A c.3864A>T p.K1288N Missense 27/29 - 1
18-29419394-T-C c.3864A>G p.K1288= Synonymous 27/29 - 1
18-29419397-C-A c.3861G>T p.L1287F Missense 27/29 - 1
18-29419397-C-G c.3861G>C p.L1287F Missense 27/29 - 2
18-29419405-C-T c.3853G>A p.E1285K Missense 27/29 - 1
18-29419420-C-T c.3838G>A p.E1280K Missense 27/29 - 1
18-29419462-C-A c.3838-42G>T - IntronicSNV - 26/28 6
18-29425152-A-T c.3837+1527T>A - IntronicSNV - 26/28 1
18-29425427-GTT-G c.3837+1250_3837+1251del - IntronicDeletion - 26/28 1
18-29426552-A-C c.3837+127T>G - IntronicSNV - 26/28 1
18-29426625-CA-C c.3837+53del - IntronicDeletion - 26/28 1
18-29426625-C-CA c.3837+53dup - IntronicInsertion - 26/28 1
18-29426648-C-G c.3837+31G>C - IntronicSNV - 26/28 1
18-29426648-C-T c.3837+31G>A - IntronicSNV - 26/28 1
18-29426649-A-G c.3837+30T>C - IntronicSNV - 26/28 2
18-29426669-A-G c.3837+10T>C - IntronicSNV - 26/28 4
18-29426674-A-G c.3837+5T>C - IntronicSNV - 26/28 1
18-29426681-G-A c.3835C>T p.Q1279* Nonsense 26/29 - 1
18-29426682-T-A c.3834A>T p.K1278N Missense 26/29 - 1
18-29426682-T-G c.3834A>C p.K1278N Missense 26/29 - 1
18-29426685-C-A c.3831G>T p.Q1277H Missense 26/29 - 1
18-29426685-C-G c.3831G>C p.Q1277H Missense 26/29 - 1
18-29426689-G-GA c.3826_3827insT p.P1276Lfs*33 Frameshift 26/29 - 1
18-29426689-G-T c.3827C>A p.P1276H Missense 26/29 - 1
18-29426690-G-A c.3826C>T p.P1276S Missense 26/29 - 3
18-29426694-T-C c.3822A>G p.S1274= Synonymous 26/29 - 1
18-29426701-G-T c.3815C>A p.A1272D Missense 26/29 - 1
18-29426707-T-A c.3809A>T p.K1270I Missense 26/29 - 6
18-29426714-T-C c.3802A>G p.I1268V Missense 26/29 - 5
18-29426734-T-C c.3782A>G p.H1261R Missense 26/29 - 1
18-29426742-T-A c.3774A>T p.E1258D Missense 26/29 - 3
18-29426742-T-G c.3774A>C p.E1258D Missense 26/29 - 1
18-29426749-A-G c.3767T>C p.I1256T Missense 26/29 - 1
18-29426754-C-A c.3762G>T p.Q1254H Missense 26/29 - 1
18-29426754-C-G c.3762G>C p.Q1254H Missense 26/29 - 1
18-29426756-G-A c.3760C>T p.Q1254* Nonsense 26/29 - 1
18-29426759-T-A c.3757A>T p.K1253* Nonsense 26/29 - 1
18-29426768-C-T c.3748G>A p.E1250K Missense 26/29 - 2
18-29426769-CAC-GAT c.3745_3747delinsATC p.V1249I Missense 26/29 - 1
18-29426771-C-T c.3745G>A p.V1249M Missense 26/29 - 1
18-29426774-C-T c.3742G>A p.V1248I Missense 26/29 - 2
18-29426775-G-A c.3741C>T p.Y1247= Synonymous 26/29 - 3
18-29426868-A-T c.3736-88T>A - IntronicSNV - 25/28 5
18-29429429-G-C c.3735+100C>G - IntronicSNV - 25/28 1
18-29429527-A-G c.3735+2T>C - IntronicSNV - 25/28 2
18-29429548-T-C c.3716A>G p.N1239S Missense 25/29 - 1
18-29429563-C-T c.3701G>A p.S1234N Missense 25/29 - 1
18-29429567-A-G c.3697T>C p.C1233R Missense 25/29 - 2
18-29429572-T-C c.3692A>G p.Q1231R Missense 25/29 - 1
18-29429573-G-A c.3691C>T p.Q1231* Nonsense 25/29 - 1
18-29429584-A-G c.3680T>C p.V1227A Missense 25/29 - 1
18-29429586-A-T c.3678T>A p.A1226= Synonymous 25/29 - 1
18-29429587-G-A c.3677C>T p.A1226V Missense 25/29 - 1
18-29429596-G-T c.3668C>A p.T1223K Missense 25/29 - 2
18-29429603-G-A c.3661C>T p.Q1221* Nonsense 25/29 - 1
18-29429614-T-C c.3650A>G p.H1217R Missense 25/29 - 1
18-29429617-A-G c.3647T>C p.V1216A Missense 25/29 - 3
18-29429618-C-A c.3646G>T p.V1216L Missense 25/29 - 1
18-29429618-C-G c.3646G>C p.V1216L Missense 25/29 - 1
18-29429622-C-A c.3642G>T p.L1214F Missense 25/29 - 1
18-29429622-C-G c.3642G>C p.L1214F Missense 25/29 - 1
18-29429625-G-A c.3639C>T p.H1213= Synonymous 25/29 - 1
18-29429632-T-G c.3632A>C p.Q1211P Missense 25/29 - 1
18-29429636-G-T c.3628C>A p.P1210T Missense 25/29 - 4
18-29429648-C-A c.3616G>T p.E1206* Nonsense 25/29 - 1
18-29429648-C-T c.3616G>A p.E1206K Missense 25/29 - 1
18-29429656-AA-GG c.3607_3608delinsCC p.L1203P Missense 25/29 - 1
18-29429659-CT-AG c.3604_3605inv p.S1202L Missense 25/29 - 1
18-29429662-C-T c.3602G>A p.R1201Q Missense 25/29 - 3
18-29429663-G-A c.3601C>T p.R1201* Nonsense 25/29 - 2
18-29429670-G-C c.3594C>G p.F1198L Missense 25/29 - 2
18-29429670-G-T c.3594C>A p.F1198L Missense 25/29 - 3
18-29429672-A-G c.3592T>C p.F1198L Missense 25/29 - 2
18-29429677-G-A c.3587C>T p.A1196V Missense 25/29 - 2
18-29429682-T-C c.3582A>G p.P1194= Synonymous 25/29 - 2
18-29429683-G-A c.3581C>T p.P1194L Missense 25/29 - 2
18-29429685-G-A c.3579C>T p.S1193= Synonymous 25/29 - 1
18-29429690-C-T c.3574G>A p.A1192T Missense 25/29 - 1
18-29429697-TA-GC c.3566_3567delinsGC p.I1189S Missense 25/29 - 1
18-29429699-T-C c.3565A>G p.I1189V Missense 25/29 - 3
18-29429695-CTTA-C c.3566_3568del p.I1189del InFrameDeletion 25/29 - 1
18-29432278-A-C c.3561+131T>G - IntronicSNV - 24/28 1
18-29432304-C-A c.3561+105G>T - IntronicSNV - 24/28 2
18-29432304-C-G c.3561+105G>C - IntronicSNV - 24/28 3
18-29432332-G-A c.3561+77C>T - IntronicSNV - 24/28 5
18-29432368-AC-A c.3561+41del - IntronicDeletion - 24/28 2
18-29432409-C-T c.3561G>A p.Q1187= Synonymous 24/29 - 2
18-29432414-C-A c.3556G>T p.E1186* Nonsense 24/29 - 1
18-29432414-C-G c.3556G>C p.E1186Q Missense 24/29 - 1
18-29432416-T-C c.3554A>G p.N1185S Missense 24/29 - 1
18-29432424-GATGAT-G c.3541_3545del p.I1181Lfs*4 Frameshift 24/29 - 1
18-29432427-G-C c.3543C>G p.I1181M Missense 24/29 - 1
18-29432443-T-C c.3527A>G p.Y1176C Missense 24/29 - 2
18-29432450-C-T c.3520G>A p.E1174K Missense 24/29 - 2
18-29432454-G-A c.3516C>T p.S1172= Synonymous 24/29 - 2
18-29432454-G-C c.3516C>G p.S1172= Synonymous 24/29 - 1
18-29432454-G-T c.3516C>A p.S1172= Synonymous 24/29 - 1
18-29432455-G-A c.3515C>T p.S1172F Missense 24/29 - 3
18-29432456-A-G c.3514T>C p.S1172P Missense 24/29 - 1
18-29432463-G-A c.3507C>T p.A1169= Synonymous 24/29 - 3
18-29432466-C-T c.3504G>A p.A1168= Synonymous 24/29 - 1
18-29432467-G-A c.3503C>T p.A1168V Missense 24/29 - 4
18-29432558-C-T c.3502G>A p.A1168T Missense 23/29 - 1
18-29432565-T-A c.3495A>T p.K1165N Missense 23/29 - 1
18-29432565-T-C c.3495A>G p.K1165= Synonymous 23/29 - 1
18-29432565-T-G c.3495A>C p.K1165N Missense 23/29 - 1
18-29432572-C-A c.3488G>T p.C1163F Missense 23/29 - 2
18-29432581-G-A c.3479C>T p.A1160V Missense 23/29 - 1
18-29432581-G-C c.3479C>G p.A1160G Missense 23/29 - 4
18-29432584-T-G c.3476A>C p.K1159T Missense 23/29 - 1
18-29432602-T-C c.3458A>G p.K1153R Missense 23/29 - 1
18-29432606-C-A c.3454G>T p.E1152* Nonsense 23/29 - 1
18-29432606-C-T c.3454G>A p.E1152K Missense 23/29 - 1
18-29432607-CCT-ACA c.3451_3453delinsTGT p.R1151C Missense 23/29 - 1
18-29432610-A-G c.3450T>C p.S1150= Synonymous 23/29 - 1
18-29432611-CT-AA c.3448_3449delinsTT p.S1150F Missense 23/29 - 1
18-29432619-T-A c.3441A>T p.K1147N Missense 23/29 - 1
18-29432619-T-G c.3441A>C p.K1147N Missense 23/29 - 1
18-29432622-G-A c.3438C>T p.T1146= Synonymous 23/29 - 1
18-29432622-G-C c.3438C>G p.T1146= Synonymous 23/29 - 1
18-29432622-G-T c.3438C>A p.T1146= Synonymous 23/29 - 1
18-29432624-T-C c.3436A>G p.T1146A Missense 23/29 - 38
18-29432833-T-C c.3434-207A>G - IntronicSNV - 22/28 2
18-29433787-T-C c.3433+25A>G - IntronicSNV - 22/28 1
18-29433821-C-A c.3424G>T p.E1142* Nonsense 22/29 - 2
18-29433858-G-A c.3387C>T p.S1129= Synonymous 22/29 - 1
18-29433858-G-C c.3387C>G p.S1129R Missense 22/29 - 3
18-29433858-G-T c.3387C>A p.S1129R Missense 22/29 - 2
18-29433860-T-G c.3385A>C p.S1129R Missense 22/29 - 2
18-29433859-CT-AA c.3385_3386delinsTT p.S1129F Missense 22/29 - 1
18-29433878-C-T c.3367G>A p.V1123M Missense 22/29 - 1
18-29433881-T-C c.3364A>G p.I1122V Missense 22/29 - 2
18-29433886-A-G c.3359T>C p.F1120S Missense 22/29 - 1
18-29433889-T-C c.3356A>G p.E1119G Missense 22/29 - 1
18-29433896-C-T c.3349G>A p.V1117I Missense 22/29 - 1
18-29433900-T-A c.3345A>T p.A1115= Synonymous 22/29 - 2
18-29433900-T-C c.3345A>G p.A1115= Synonymous 22/29 - 2
18-29433900-T-G c.3345A>C p.A1115= Synonymous 22/29 - 2
18-29433907-C-G c.3338G>C p.S1113T Missense 22/29 - 1
18-29433908-T-C c.3337A>G p.S1113G Missense 22/29 - 1
18-29435648-A-T c.3311T>A p.F1104Y Missense 21/29 - 4
18-29435654-A-G c.3305T>C p.L1102P Missense 21/29 - 1
18-29435655-G-C c.3304C>G p.L1102V Missense 21/29 - 5
18-29435661-T-C c.3298A>G p.N1100D Missense 21/29 - 2
18-29435664-C-G c.3295G>C p.G1099R Missense 21/29 - 2
18-29435670-T-C c.3289A>G p.R1097G Missense 21/29 - 1
18-29435678-T-C c.3281A>G p.E1094G Missense 21/29 - 3
18-29435680-A-C c.3279T>G p.N1093K Missense 21/29 - 2
18-29435680-A-T c.3279T>A p.N1093K Missense 21/29 - 1
18-29435687-A-G c.3272T>C p.L1091P Missense 21/29 - 1
18-29435689-A-C c.3270T>G p.S1090= Synonymous 21/29 - 1
18-29435689-A-G c.3270T>C p.S1090= Synonymous 21/29 - 1
18-29435689-A-T c.3270T>A p.S1090= Synonymous 21/29 - 1
18-29435690-GA-CC c.3268_3269delinsGG p.S1090G Missense 21/29 - 1
18-29435690-G-T c.3269C>A p.S1090Y Missense 21/29 - 1
18-29435691-A-G c.3268T>C p.S1090P Missense 21/29 - 1
18-29435699-C-T c.3260G>A p.R1087K Missense 21/29 - 1
18-29435704-G-A c.3255C>T p.V1085= Synonymous 21/29 - 1
18-29435713-CC-AT c.3245_3246delinsAT p.R1082H Missense 21/29 - 1
18-29435715-G-A c.3244C>T p.R1082W Missense 21/29 - 1
18-29435717-A-G c.3242T>C p.V1081A Missense 21/29 - 1
18-29435717-A-T c.3242T>A p.V1081E Missense 21/29 - 1
18-29435729-C-T c.3230G>A p.R1077Q Missense 21/29 - 1
18-29435730-G-A c.3229C>T p.R1077W Missense 21/29 - 3
18-29435736-T-C c.3223A>G p.T1075A Missense 21/29 - 1
18-29435737-A-G c.3222T>C p.C1074= Synonymous 21/29 - 1
18-29435742-T-C c.3217A>G p.I1073V Missense 21/29 - 1
18-29435744-A-T c.3215T>A p.I1072N Missense 21/29 - 1
18-29435745-T-C c.3214A>G p.I1072V Missense 21/29 - 3
18-29435756-C-T c.3203G>A p.R1068K Missense 21/29 - 1
18-29435757-T-A c.3202A>T p.R1068* Nonsense 21/29 - 1
18-29435757-T-C c.3202A>G p.R1068G Missense 21/29 - 2
18-29435758-T-C c.3201A>G p.L1067= Synonymous 21/29 - 2
18-29435760-A-G c.3199T>C p.L1067= Synonymous 21/29 - 2
18-29435765-C-T c.3194G>A p.R1065K Missense 21/29 - 1
18-29435767-G-C c.3192C>G p.H1064Q Missense 21/29 - 1
18-29435767-G-T c.3192C>A p.H1064Q Missense 21/29 - 2
18-29437400-A-G c.3188+103T>C - IntronicSNV - 20/28 4
18-29437499-T-G c.3188+4A>C - IntronicSNV - 20/28 1
18-29437506-A-T c.3185T>A p.I1062K Missense 20/29 - 1
18-29437506-A-AT c.3184dup p.I1062Nfs*28 Frameshift 20/29 - 1
18-29437506-AT-A c.3184del p.I1062Yfs*6 Frameshift 20/29 - 1
18-29437528-T-G c.3163A>C p.S1055R Missense 20/29 - 1
18-29437530-T-C c.3161A>G p.E1054G Missense 20/29 - 1
18-29437531-C-T c.3160G>A p.E1054K Missense 20/29 - 2
18-29437532-A-G c.3159T>C p.Y1053= Synonymous 20/29 - 3
18-29437535-G-T c.3156C>A p.Y1052* Nonsense 20/29 - 1
18-29437557-T-C c.3134A>G p.H1045R Missense 20/29 - 1
18-29437563-C-T c.3128G>A p.G1043D Missense 20/29 - 1
18-29437565-T-C c.3126A>G p.E1042= Synonymous 20/29 - 1
18-29437574-A-C c.3117T>G p.P1039= Synonymous 20/29 - 4
18-29437574-A-G c.3117T>C p.P1039= Synonymous 20/29 - 3
18-29437574-A-T c.3117T>A p.P1039= Synonymous 20/29 - 3
18-29437582-G-A c.3109C>T p.R1037C Missense 20/29 - 1
18-29437583-T-C c.3108A>G p.L1036= Synonymous 20/29 - 1
18-29437585-A-G c.3106T>C p.L1036= Synonymous 20/29 - 1
18-29437586-C-A c.3105G>T p.W1035C Missense 20/29 - 2
18-29437586-C-G c.3105G>C p.W1035C Missense 20/29 - 3
18-29437591-T-C c.3100A>G p.M1034V Missense 20/29 - 1
18-29437604-T-C c.3087A>G p.S1029= Synonymous 20/29 - 1
18-29437604-T-G c.3087A>C p.S1029= Synonymous 20/29 - 1
18-29437605-G-A c.3086C>T p.S1029L Missense 20/29 - 1
18-29437609-C-A c.3082G>T p.A1028S Missense 20/29 - 1
18-29437614-G-A c.3077C>T p.P1026L Missense 20/29 - 1
18-29437624-C-A c.3067G>T p.V1023F Missense 20/29 - 1
18-29437631-A-C c.3060T>G p.P1020= Synonymous 20/29 - 2
18-29437631-A-G c.3060T>C p.P1020= Synonymous 20/29 - 3
18-29437631-A-T c.3060T>A p.P1020= Synonymous 20/29 - 2
18-29437639-G-A c.3052C>T p.P1018S Missense 20/29 - 2
18-29437644-G-C c.3047C>G p.P1016R Missense 20/29 - 1
18-29437645-G-A c.3046C>T p.P1016S Missense 20/29 - 3
18-29437654-C-T c.3037G>A p.E1013K Missense 20/29 - 1
18-29437659-T-C c.3032A>G p.Q1011R Missense 20/29 - 1
18-29437664-TCC-ACA c.3025_3027delinsTGT p.G1009C Missense 20/29 - 1
18-29437668-G-A c.3023C>T p.T1008I Missense 20/29 - 4
18-29437668-G-T c.3023C>A p.T1008K Missense 20/29 - 1
18-29437670-G-A c.3021C>T p.G1007= Synonymous 20/29 - 1
18-29437671-C-G c.3020G>C p.G1007A Missense 20/29 - 5
18-29437671-C-T c.3020G>A p.G1007D Missense 20/29 - 1
18-29437681-A-C c.3010T>G p.F1004V Missense 20/29 - 1
18-29437692-G-A c.2999C>T p.S1000F Missense 20/29 - 1
18-29437696-C-A c.2995G>T p.A999S Missense 20/29 - 1
18-29437698-G-A c.2993C>T p.S998L Missense 20/29 - 1
18-29437701-G-A c.2990C>T p.S997L Missense 20/29 - 1
18-29437711-C-T c.2980G>A p.A994T Missense 20/29 - 1
18-29437715-A-T c.2976T>A p.C992* Nonsense 20/29 - 1
18-29437722-G-A c.2969C>T p.S990F Missense 20/29 - 1
18-29437732-C-G c.2959G>C p.D987H Missense 20/29 - 1
18-29437738-C-T c.2953G>A p.V985M Missense 20/29 - 1
18-29437741-C-T c.2950G>A p.V984I Missense 20/29 - 1
18-29437747-T-C c.2944A>G p.K982E Missense 20/29 - 1
18-29437753-C-T c.2938G>A p.A980T Missense 20/29 - 1
18-29437771-C-A c.2920G>T p.A974S Missense 20/29 - 1
18-29437772-T-C c.2919A>G p.S973= Synonymous 20/29 - 1
18-29437775-G-A c.2916C>T p.P972= Synonymous 20/29 - 1
18-29437775-G-C c.2916C>G p.P972= Synonymous 20/29 - 2
18-29437775-G-T c.2916C>A p.P972= Synonymous 20/29 - 1
18-29437776-G-C c.2915C>G p.P972R Missense 20/29 - 1
18-29437778-A-G c.2913T>C p.S971= Synonymous 20/29 - 1
18-29437780-TTAG-T c.2908_2910del p.L970del InFrameDeletion 20/29 - 1
18-29437807-C-T c.2884G>A p.G962S Missense 20/29 - 6
18-29437809-C-G c.2882G>C p.G961A Missense 20/29 - 1
18-29437810-C-A c.2881G>T p.G961C Missense 20/29 - 1
18-29437810-C-T c.2881G>A p.G961S Missense 20/29 - 2
18-29437811-G-A c.2880C>T p.F960= Synonymous 20/29 - 1
18-29437811-G-T c.2880C>A p.F960L Missense 20/29 - 1
18-29437822-A-G c.2869T>C p.F957L Missense 20/29 - 1
18-29437825-C-T c.2866G>A p.E956K Missense 20/29 - 1
18-29437830-C-A c.2861G>T p.R954L Missense 20/29 - 1
18-29437830-C-G c.2861G>C p.R954P Missense 20/29 - 1
18-29437830-C-T c.2861G>A p.R954H Missense 20/29 - 5
18-29437831-G-A c.2860C>T p.R954C Missense 20/29 - 3
18-29437836-G-A c.2855C>T p.S952F Missense 20/29 - 1
18-29437848-AA-CT c.2842_2843delinsAG p.L948R Missense 20/29 - 1
18-29437847-C-T c.2844G>A p.L948= Synonymous 20/29 - 1
18-29437849-A-G c.2842T>C p.L948= Synonymous 20/29 - 1
18-29437851-C-G c.2840G>C p.G947A Missense 20/29 - 1
18-29437863-C-T c.2828G>A p.C943Y Missense 20/29 - 1
18-29437875-T-C c.2816A>G p.N939S Missense 20/29 - 3
18-29437895-T-A c.2796A>T p.K932N Missense 20/29 - 1
18-29437900-G-A c.2791C>T p.R931* Nonsense 20/29 - 1
18-29437901-G-A c.2790C>T p.I930= Synonymous 20/29 - 2
18-29437901-G-T c.2790C>A p.I930= Synonymous 20/29 - 1
18-29437914-AG-CT c.2776_2777inv p.L926S Missense 20/29 - 1
18-29437918-G-A c.2773C>T p.L925F Missense 20/29 - 1
18-29437921-C-G c.2770G>C p.G924R Missense 20/29 - 1
18-29437921-C-T c.2770G>A p.G924R Missense 20/29 - 1
18-29437922-T-A c.2769A>T p.T923= Synonymous 20/29 - 1
18-29437922-T-C c.2769A>G p.T923= Synonymous 20/29 - 2
18-29437922-T-G c.2769A>C p.T923= Synonymous 20/29 - 1
18-29437927-G-A c.2764C>T p.P922S Missense 20/29 - 7
18-29437929-A-T c.2762T>A p.F921Y Missense 20/29 - 1
18-29437933-G-A c.2758C>T p.H920Y Missense 20/29 - 1
18-29437940-G-C c.2751C>G p.F917L Missense 20/29 - 1
18-29437940-G-T c.2751C>A p.F917L Missense 20/29 - 1
18-29437942-A-G c.2749T>C p.F917L Missense 20/29 - 1
18-29438142-G-A c.2746-197C>T - IntronicSNV - 19/28 1
18-29439978-C-A c.2746-2033G>T - IntronicSNV - 19/28 1
18-29439979-A-C c.2746-2034T>G - IntronicSNV - 19/28 1
18-29443140-AT-A c.2745+1449del - IntronicDeletion - 19/28 1
18-29443283-C-A c.2745+1307G>T - IntronicSNV - 19/28 1
18-29443283-C-T c.2745+1307G>A - IntronicSNV - 19/28 1
18-29443964-C-T c.2745+626G>A - IntronicSNV - 19/28 1
18-29444596-C-A c.2739G>T p.L913= Synonymous 19/29 - 2
18-29444596-C-G c.2739G>C p.L913= Synonymous 19/29 - 2
18-29444596-C-T c.2739G>A p.L913= Synonymous 19/29 - 2
18-29444598-G-A c.2737C>T p.L913= Synonymous 19/29 - 4
18-29444602-C-T c.2733G>A p.M911I Missense 19/29 - 1
18-29444607-C-G c.2728G>C p.E910Q Missense 19/29 - 1
18-29444609-T-A c.2726A>T p.E909V Missense 19/29 - 1
18-29444610-C-A c.2725G>T p.E909* Nonsense 19/29 - 1
18-29444610-C-G c.2725G>C p.E909Q Missense 19/29 - 1
18-29444625-C-T c.2710G>A p.D904N Missense 19/29 - 1
18-29444631-G-A c.2704C>T p.R902C Missense 19/29 - 2
18-29444634-G-A c.2701C>T p.R901* Nonsense 19/29 - 1
18-29444637-C-T c.2698G>A p.D900N Missense 19/29 - 1
18-29444640-G-A c.2695C>T p.P899S Missense 19/29 - 1
18-29444654-G-C c.2681C>G p.S894C Missense 19/29 - 1
18-29444654-G-T c.2681C>A p.S894Y Missense 19/29 - 1
18-29444658-T-C c.2677A>G p.T893A Missense 19/29 - 2
18-29444657-GT-G c.2677del p.T893Hfs*11 Frameshift 19/29 - 2
18-29444662-C-A c.2673G>T p.E891D Missense 19/29 - 1
18-29444662-C-G c.2673G>C p.E891D Missense 19/29 - 1
18-29444664-C-G c.2671G>C p.E891Q Missense 19/29 - 2
18-29444666-T-A c.2669A>T p.E890V Missense 19/29 - 1
18-29444667-C-A c.2668G>T p.E890* Nonsense 19/29 - 1
18-29444683-TCG-CCA c.2650_2652delinsTGG p.R884W Missense 19/29 - 1
18-29444684-C-T c.2651G>A p.R884Q Missense 19/29 - 1
18-29444700-C-T c.2635G>A p.E879K Missense 19/29 - 1
18-29444706-C-T c.2629G>A p.D877N Missense 19/29 - 1
18-29444710-C-A c.2625G>T p.K875N Missense 19/29 - 1
18-29444710-C-G c.2625G>C p.K875N Missense 19/29 - 1
18-29444719-G-A c.2616C>T p.V872= Synonymous 19/29 - 1
18-29444727-T-C c.2608A>G p.M870V Missense 19/29 - 1
18-29444728-A-G c.2607T>C p.S869= Synonymous 19/29 - 1
18-29444733-A-G c.2602T>C p.L868= Synonymous 19/29 - 1
18-29444735-G-A c.2600C>T p.S867F Missense 19/29 - 1
18-29444735-G-C c.2600C>G p.S867C Missense 19/29 - 1
18-29444743-T-C c.2592A>G p.G864= Synonymous 19/29 - 2
18-29444811-A-G c.2591-67T>C - IntronicSNV - 18/28 7
18-29446646-T-C c.2590+166A>G - IntronicSNV - 18/28 2
18-29446689-G-A c.2590+123C>T - IntronicSNV - 18/28 1
18-29446832-G-A c.2570C>T p.A857V Missense 18/29 - 1
18-29446832-G-C c.2570C>G p.A857G Missense 18/29 - 1
18-29446835-C-G c.2567G>C p.G856A Missense 18/29 - 1
18-29446841-C-G c.2561G>C p.G854A Missense 18/29 - 1
18-29446844-T-A c.2558A>T p.D853V Missense 18/29 - 4
18-29446845-C-G c.2557G>C p.D853H Missense 18/29 - 1
18-29446845-C-T c.2557G>A p.D853N Missense 18/29 - 1
18-29446850-G-C c.2552C>G p.T851R Missense 18/29 - 2
18-29446853-A-C c.2549T>G p.M850R Missense 18/29 - 1
18-29446854-T-C c.2548A>G p.M850V Missense 18/29 - 1
18-29446856-G-A c.2546C>T p.S849F Missense 18/29 - 1
18-29446860-C-A c.2542G>T p.G848C Missense 18/29 - 1
18-29446868-GT-CA c.2533_2534delinsTG p.T845C Missense 18/29 - 1
18-29446888-T-A c.2514A>T p.G838= Synonymous 18/29 - 1
18-29446890-C-G c.2512G>C p.G838R Missense 18/29 - 1
18-29446890-C-T c.2512G>A p.G838R Missense 18/29 - 1
18-29446906-C-G c.2496G>C p.G832= Synonymous 18/29 - 1
18-29446911-T-A c.2491A>T p.I831L Missense 18/29 - 1
18-29446911-T-C c.2491A>G p.I831V Missense 18/29 - 1
18-29446911-T-G c.2491A>C p.I831L Missense 18/29 - 1
18-29446914-G-A c.2488C>T p.H830Y Missense 18/29 - 3
18-29446914-G-C c.2488C>G p.H830D Missense 18/29 - 2
18-29446917-G-A c.2485C>T p.H829Y Missense 18/29 - 1
18-29446919-G-A c.2483C>T p.P828L Missense 18/29 - 1
18-29446938-C-A c.2464G>T p.A822S Missense 18/29 - 2
18-29447344-AGAG-A c.2463+19_2463+21del - IntronicDeletion - 17/28 1
18-29447376-C-A c.2452G>T p.E818* Nonsense 17/29 - 1
18-29447377-T-A c.2451A>T p.E817D Missense 17/29 - 1
18-29447377-T-G c.2451A>C p.E817D Missense 17/29 - 1
18-29447379-C-T c.2449G>A p.E817K Missense 17/29 - 4
18-29447380-G-A c.2448C>T p.G816= Synonymous 17/29 - 2
18-29447380-G-C c.2448C>G p.G816= Synonymous 17/29 - 1
18-29447380-G-T c.2448C>A p.G816= Synonymous 17/29 - 1
18-29447388-T-C c.2440A>G p.I814V Missense 17/29 - 1
18-29447392-G-C c.2436C>G p.F812L Missense 17/29 - 1
18-29447392-G-T c.2436C>A p.F812L Missense 17/29 - 1
18-29447394-A-G c.2434T>C p.F812L Missense 17/29 - 1
18-29447398-T-C c.2430A>G p.S810= Synonymous 17/29 - 1
18-29447398-T-G c.2430A>C p.S810= Synonymous 17/29 - 1
18-29447399-G-A c.2429C>T p.S810L Missense 17/29 - 2
18-29447406-C-T c.2422G>A p.V808I Missense 17/29 - 2
18-29447409-C-A c.2419G>T p.E807* Nonsense 17/29 - 1
18-29447411-G-A c.2417C>T p.A806V Missense 17/29 - 3
18-29447411-G-C c.2417C>G p.A806G Missense 17/29 - 1
18-29447411-GC-CA c.2416_2417delinsTG p.A806C Missense 17/29 - 1
18-29447420-A-C c.2408T>G p.M803R Missense 17/29 - 1
18-29447421-T-C c.2407A>G p.M803V Missense 17/29 - 2
18-29447422-T-A c.2406A>T p.E802D Missense 17/29 - 1
18-29447422-T-G c.2406A>C p.E802D Missense 17/29 - 1
18-29447424-C-T c.2404G>A p.E802K Missense 17/29 - 1
18-29447438-A-G c.2390T>C p.V797A Missense 17/29 - 1
18-29447468-T-G c.2389-29A>C - IntronicSNV - 16/28 1
18-29450088-AAG-A c.2388+245_2388+246del - IntronicDeletion - 16/28 1
18-29450169-A-C c.2388+166T>G - IntronicSNV - 16/28 1
18-29450333-A-T c.2388+2T>A - IntronicSNV - 16/28 1
18-29450347-T-C c.2376A>G p.E792= Synonymous 16/29 - 1
18-29450349-C-T c.2374G>A p.E792K Missense 16/29 - 9
18-29450355-T-G c.2368A>C p.N790H Missense 16/29 - 1
18-29450363-C-G c.2360G>C p.G787A Missense 16/29 - 1
18-29450373-C-A c.2350G>T p.D784Y Missense 16/29 - 1
18-29450379-G-C c.2344C>G p.P782A Missense 16/29 - 1
18-29450401-C-A c.2322G>T p.L774F Missense 16/29 - 1
18-29450401-C-G c.2322G>C p.L774F Missense 16/29 - 1
18-29450405-T-G c.2318A>C p.D773A Missense 16/29 - 1
18-29450413-C-A c.2310G>T p.L770F Missense 16/29 - 1
18-29450413-C-G c.2310G>C p.L770F Missense 16/29 - 1
18-29450417-A-G c.2306T>C p.L769P Missense 16/29 - 1
18-29450438-C-T c.2285G>A p.R762K Missense 16/29 - 1
18-29450449-T-A c.2274A>T p.E758D Missense 16/29 - 1
18-29450449-T-G c.2274A>C p.E758D Missense 16/29 - 1
18-29450451-C-A c.2272G>T p.E758* Nonsense 16/29 - 1
18-29450463-G-A c.2260C>T p.P754S Missense 16/29 - 1
18-29450527-G-A c.2258-62C>T - IntronicSNV - 15/28 1
18-29450890-T-A c.2256A>T p.E752D Missense 15/29 - 1
18-29450899-T-A c.2247A>T p.A749= Synonymous 15/29 - 1
18-29450899-T-C c.2247A>G p.A749= Synonymous 15/29 - 1
18-29450901-C-T c.2245G>A p.A749T Missense 15/29 - 3
18-29450905-T-C c.2241A>G p.P747= Synonymous 15/29 - 1
18-29450923-T-A c.2223A>T p.S741= Synonymous 15/29 - 1
18-29450923-T-C c.2223A>G p.S741= Synonymous 15/29 - 1
18-29450923-T-G c.2223A>C p.S741= Synonymous 15/29 - 1
18-29450924-G-A c.2222C>T p.S741L Missense 15/29 - 1
18-29450933-T-C c.2213A>G p.N738S Missense 15/29 - 1
18-29450939-CA-GT c.2206_2207delinsAC p.C736T Missense 15/29 - 1
18-29450950-G-T c.2196C>A p.P732= Synonymous 15/29 - 1
18-29450952-G-A c.2194C>T p.P732S Missense 15/29 - 1
18-29450955-G-A c.2191C>T p.H731Y Missense 15/29 - 1
18-29450960-T-C c.2186A>G p.N729S Missense 15/29 - 1
18-29450963-G-A c.2183C>T p.S728F Missense 15/29 - 1
18-29450965-T-A c.2181A>T p.P727= Synonymous 15/29 - 1
18-29450965-T-C c.2181A>G p.P727= Synonymous 15/29 - 1
18-29450965-T-G c.2181A>C p.P727= Synonymous 15/29 - 1
18-29450969-A-T c.2177T>A p.I726N Missense 15/29 - 1
18-29450974-TC-GT c.2171_2172delinsAC p.G724D Missense 15/29 - 1
18-29450975-C-G c.2171G>C p.G724A Missense 15/29 - 1
18-29450975-C-T c.2171G>A p.G724E Missense 15/29 - 1
18-29450979-T-C c.2167A>G p.K723E Missense 15/29 - 1
18-29450985-C-T c.2161G>A p.V721I Missense 15/29 - 1
18-29450986-CAC-GAT c.2158_2160delinsATC p.V720I Missense 15/29 - 1
18-29450990-G-A c.2156C>T p.S719F Missense 15/29 - 1
18-29450991-A-G c.2155T>C p.S719P Missense 15/29 - 1
18-29450994-C-G c.2152G>C p.V718L Missense 15/29 - 1
18-29450998-T-G c.2148A>C p.Q716H Missense 15/29 - 2
18-29451003-C-T c.2143G>A p.E715K Missense 15/29 - 2
18-29451005-T-C c.2141A>G p.E714G Missense 15/29 - 1
18-29451006-C-A c.2140G>T p.E714* Nonsense 15/29 - 1
18-29451007-A-C c.2139T>G p.L713= Synonymous 15/29 - 2
18-29451007-A-G c.2139T>C p.L713= Synonymous 15/29 - 2
18-29451007-A-T c.2139T>A p.L713= Synonymous 15/29 - 2
18-29451009-G-A c.2137C>T p.L713F Missense 15/29 - 1
18-29451012-C-A c.2134G>T p.E712* Nonsense 15/29 - 1
18-29451012-C-T c.2134G>A p.E712K Missense 15/29 - 2
18-29451014-C-T c.2132G>A p.R711Q Missense 15/29 - 3
18-29451016-C-A c.2130G>T p.W710C Missense 15/29 - 1
18-29451016-C-G c.2130G>C p.W710C Missense 15/29 - 1
18-29451024-G-C c.2122C>G p.Q708E Missense 15/29 - 3
18-29451024-G-T c.2122C>A p.Q708K Missense 15/29 - 1
18-29451026-G-T c.2120C>A p.S707Y Missense 15/29 - 1
18-29451033-C-T c.2113G>A p.E705K Missense 15/29 - 4
18-29451043-T-A c.2103A>T p.E701D Missense 15/29 - 2
18-29451043-T-C c.2103A>G p.E701= Synonymous 15/29 - 2
18-29451043-T-G c.2103A>C p.E701D Missense 15/29 - 1
18-29451045-C-T c.2101G>A p.E701K Missense 15/29 - 2
18-29451048-G-C c.2098C>G p.Q700E Missense 15/29 - 1
18-29451048-G-T c.2098C>A p.Q700K Missense 15/29 - 1
18-29451050-T-C c.2096A>G p.D699G Missense 15/29 - 1
18-29451051-C-T c.2095G>A p.D699N Missense 15/29 - 1
18-29451055-A-G c.2091T>C p.S697= Synonymous 15/29 - 1
18-29451056-C-T c.2090G>A p.S697N Missense 15/29 - 3
18-29451058-T-A c.2088A>T p.V696= Synonymous 15/29 - 3
18-29451058-T-C c.2088A>G p.V696= Synonymous 15/29 - 2
18-29451058-T-G c.2088A>C p.V696= Synonymous 15/29 - 3
18-29451059-A-C c.2087T>G p.V696G Missense 15/29 - 1
18-29451060-C-A c.2086G>T p.V696L Missense 15/29 - 1
18-29451060-C-G c.2086G>C p.V696L Missense 15/29 - 1
18-29451069-C-A c.2077G>T p.A693S Missense 15/29 - 2
18-29451069-C-T c.2077G>A p.A693T Missense 15/29 - 5
18-29451071-G-A c.2075C>T p.A692V Missense 15/29 - 1
18-29451072-C-T c.2074G>A p.A692T Missense 15/29 - 1
18-29451081-C-A c.2065G>T p.E689* Nonsense 15/29 - 1
18-29451082-A-C c.2064T>G p.G688= Synonymous 15/29 - 1
18-29451082-A-G c.2064T>C p.G688= Synonymous 15/29 - 1
18-29451082-A-T c.2064T>A p.G688= Synonymous 15/29 - 1
18-29451174-T-A c.2063-91A>T - IntronicSNV - 14/28 2
18-29451174-T-C c.2063-91A>G - IntronicSNV - 14/28 2
18-29453112-A-C c.2062+281T>G - IntronicSNV - 14/28 1
18-29453396-C-T c.2059G>A p.D687N Missense 14/29 - 3
18-29453399-C-T c.2056G>A p.A686T Missense 14/29 - 1
18-29453405-G-A c.2050C>T p.R684* Nonsense 14/29 - 1
18-29453406-T-A c.2049A>T p.R683S Missense 14/29 - 1
18-29453406-T-G c.2049A>C p.R683S Missense 14/29 - 1
18-29453409-G-A c.2046C>T p.D682= Synonymous 14/29 - 1
18-29453413-T-C c.2042A>G p.H681R Missense 14/29 - 1
18-29453415-G-A c.2040C>T p.G680= Synonymous 14/29 - 2
18-29453416-C-A c.2039G>T p.G680V Missense 14/29 - 1
18-29453416-C-CA c.2038_2039insT p.G680Vfs*3 Frameshift 14/29 - 1
18-29453415-GC-G c.2039del p.G680Afs*17 Frameshift 14/29 - 1
18-29453417-CA-C c.2037del p.F679Lfs*18 Frameshift 14/29 - 9
18-29453417-C-CA c.2037dup p.G680Wfs*3 Frameshift 14/29 - 5
18-29453425-A-C c.2030T>G p.V677G Missense 14/29 - 1
18-29453426-C-A c.2029G>T p.V677F Missense 14/29 - 1
18-29453425-AC-A c.2029del p.V677Ffs*20 Frameshift 14/29 - 1
18-29453429-G-A c.2026C>T p.R676W Missense 14/29 - 3
18-29453431-G-A c.2024C>T p.T675I Missense 14/29 - 1
18-29453445-A-G c.2010T>C p.I670= Synonymous 14/29 - 1
18-29453449-T-C c.2006A>G p.Y669C Missense 14/29 - 1
18-29453451-C-A c.2004G>T p.P668= Synonymous 14/29 - 1
18-29453451-C-G c.2004G>C p.P668= Synonymous 14/29 - 1
18-29453451-C-T c.2004G>A p.P668= Synonymous 14/29 - 3
18-29453452-G-A c.2003C>T p.P668L Missense 14/29 - 5
18-29453453-G-A c.2002C>T p.P668S Missense 14/29 - 2
18-29453458-G-A c.1997C>T p.P666L Missense 14/29 - 4
18-29453458-G-T c.1997C>A p.P666H Missense 14/29 - 3
18-29453462-G-A c.1993C>T p.L665F Missense 14/29 - 1
18-29453477-C-A c.1978G>T p.G660C Missense 14/29 - 1
18-29453484-TGA-GTT c.1969_1971delinsAAC p.S657N Missense 14/29 - 1
18-29453485-G-A c.1970C>T p.S657L Missense 14/29 - 2
18-29453488-A-T c.1967T>A p.L656Q Missense 14/29 - 1
18-29453491-T-A c.1964A>T p.Q655L Missense 14/29 - 1
18-29453492-G-C c.1963C>G p.Q655E Missense 14/29 - 1
18-29454374-TAATA-T c.1953+65_1953+68del - IntronicDeletion - 13/28 1
18-29454463-C-A c.1933G>T p.E645* Nonsense 13/29 - 1
18-29454464-TCT-ACA c.1930_1932delinsTGT p.R644C Missense 13/29 - 1
18-29454466-T-A c.1930A>T p.R644* Nonsense 13/29 - 1
18-29454467-G-A c.1929C>T p.L643= Synonymous 13/29 - 1
18-29454467-G-C c.1929C>G p.L643= Synonymous 13/29 - 1
18-29454467-G-T c.1929C>A p.L643= Synonymous 13/29 - 1
18-29454474-G-A c.1922C>T p.A641V Missense 13/29 - 2
18-29454479-C-A c.1917G>T p.Q639H Missense 13/29 - 4
18-29454479-C-G c.1917G>C p.Q639H Missense 13/29 - 2
18-29454480-T-C c.1916A>G p.Q639R Missense 13/29 - 1
18-29454484-G-C c.1912C>G p.Q638E Missense 13/29 - 1
18-29454492-GA-AG c.1903_1904delinsCT p.S635L Missense 13/29 - 1
18-29454517-T-A c.1879A>T p.I627F Missense 13/29 - 1
18-29454522-C-A c.1874G>T p.R625M Missense 13/29 - 1
18-29454538-C-T c.1858G>A p.A620T Missense 13/29 - 1
18-29454544-C-G c.1852G>C p.D618H Missense 13/29 - 1
18-29454551-TCT-CCA c.1843_1845delinsTGG p.R615W Missense 13/29 - 1
18-29454552-C-A c.1844G>T p.R615I Missense 13/29 - 1
18-29454561-T-C c.1835A>G p.Y612C Missense 13/29 - 1
18-29454564-G-A c.1832C>T p.S611F Missense 13/29 - 2
18-29454570-C-T c.1826G>A p.R609H Missense 13/29 - 2
18-29454571-G-A c.1825C>T p.R609C Missense 13/29 - 6
18-29454576-A-G c.1820T>C p.I607T Missense 13/29 - 1
18-29454580-T-C c.1816A>G p.T606A Missense 13/29 - 1
18-29454581-TG-T c.1815del p.F605Lfs*24 Frameshift 13/29 - 1
18-29454590-G-C c.1806C>G p.H602Q Missense 13/29 - 1
18-29454590-G-T c.1806C>A p.H602Q Missense 13/29 - 1
18-29454592-G-A c.1804C>T p.H602Y Missense 13/29 - 1
18-29454595-C-T c.1801G>A p.D601N Missense 13/29 - 2
18-29454598-C-G c.1798G>C p.E600Q Missense 13/29 - 1
18-29454598-C-T c.1798G>A p.E600K Missense 13/29 - 1
18-29454601-C-A c.1795G>T p.A599S Missense 13/29 - 1
18-29454601-C-G c.1795G>C p.A599P Missense 13/29 - 1
18-29454613-C-A c.1783G>T p.G595C Missense 13/29 - 1
18-29454614-T-C c.1782A>G p.K594= Synonymous 13/29 - 1
18-29454613-CT-C c.1782del p.G595Afs*34 Frameshift 13/29 - 1
18-29454624-T-A c.1772A>T p.Y591F Missense 13/29 - 1
18-29454624-T-C c.1772A>G p.Y591C Missense 13/29 - 1
18-29454630-T-C c.1766A>G p.Q589R Missense 13/29 - 1
18-29454640-G-A c.1756C>T p.Q586* Nonsense 13/29 - 1
18-29454644-A-G c.1752T>C p.Y584= Synonymous 13/29 - 12
18-29454652-G-A c.1744C>T p.R582C Missense 13/29 - 1
18-29454728-A-G c.1729-61T>C - IntronicSNV - 12/28 2
18-29454781-G-A c.1729-114C>T - IntronicSNV - 12/28 3
18-29454899-G-T c.1729-232C>A - IntronicSNV - 12/28 2
18-29460055-T-A c.1729-5388A>T - IntronicSNV - 12/28 1
18-29460055-T-C c.1729-5388A>G - IntronicSNV - 12/28 1
18-29460086-T-A c.1729-5419A>T - IntronicSNV - 12/28 1
18-29463735-T-C c.1728+6963A>G - IntronicSNV - 12/28 1
18-29464440-GTAT-G c.1728+6255_1728+6257del - IntronicDeletion - 12/28 1
18-29465728-T-C c.1728+4970A>G - IntronicSNV - 12/28 1
18-29470702-C-G c.1724G>C p.G575A Missense 12/29 - 1
18-29470711-C-T c.1715G>A p.S572N Missense 12/29 - 1
18-29470717-C-T c.1709G>A p.R570Q Missense 12/29 - 2
18-29470718-G-A c.1708C>T p.R570* Nonsense 12/29 - 7
18-29470723-C-A c.1703G>T p.G568V Missense 12/29 - 1
18-29470733-T-C c.1693A>G p.I565V Missense 12/29 - 1
18-29470744-G-T c.1682C>A p.A561E Missense 12/29 - 1
18-29470761-G-A c.1665C>T p.P555= Synonymous 12/29 - 1
18-29470763-G-A c.1663C>T p.P555S Missense 12/29 - 1
18-29470768-T-C c.1658A>G p.K553R Missense 12/29 - 1
18-29470773-G-C c.1653C>G p.N551K Missense 12/29 - 1
18-29470773-G-T c.1653C>A p.N551K Missense 12/29 - 1
18-29470774-T-C c.1652A>G p.N551S Missense 12/29 - 2
18-29470777-A-G c.1649T>C p.I550T Missense 12/29 - 1
18-29470778-T-C c.1648A>G p.I550V Missense 12/29 - 1
18-29470779-A-C c.1647T>G p.F549L Missense 12/29 - 1
18-29470779-A-T c.1647T>A p.F549L Missense 12/29 - 1
18-29470781-A-G c.1645T>C p.F549L Missense 12/29 - 1
18-29470790-C-G c.1636G>C p.A546P Missense 12/29 - 1
18-29470792-G-C c.1634C>G p.A545G Missense 12/29 - 1
18-29470793-C-A c.1633G>T p.A545S Missense 12/29 - 1
18-29470814-T-A c.1612A>T p.S538C Missense 12/29 - 1
18-29470816-C-A c.1610G>T p.R537L Missense 12/29 - 1
18-29470816-C-T c.1610G>A p.R537Q Missense 12/29 - 4
18-29470817-G-A c.1609C>T p.R537* Nonsense 12/29 - 5
18-29471317-C-G c.1597-488G>C - IntronicSNV - 11/28 1
18-29471317-C-T c.1597-488G>A - IntronicSNV - 11/28 1
18-29477698-A-T c.1596+51T>A - IntronicSNV - 11/28 2
18-29477697-TA-T c.1596+51del - IntronicDeletion - 11/28 3
18-29477753-C-T c.1592G>A p.S531N Missense 11/29 - 1
18-29477757-T-C c.1588A>G p.T530A Missense 11/29 - 1
18-29477765-A-T c.1580T>A p.I527K Missense 11/29 - 1
18-29477766-T-A c.1579A>T p.I527L Missense 11/29 - 1
18-29477769-G-A c.1576C>T p.L526= Synonymous 11/29 - 1
18-29477770-G-A c.1575C>T p.L525= Synonymous 11/29 - 5
18-29477774-GC-CA c.1570_1571delinsTG p.A524C Missense 11/29 - 1
18-29477796-T-C c.1549A>G p.S517G Missense 11/29 - 2
18-29477799-G-A c.1546C>T p.Q516* Nonsense 11/29 - 3
18-29477804-T-G c.1541A>C p.K514T Missense 11/29 - 1
18-29477819-C-G c.1526G>C p.S509T Missense 11/29 - 1
18-29477820-T-A c.1525A>T p.S509C Missense 11/29 - 1
18-29477822-A-C c.1523T>G p.L508R Missense 11/29 - 1
18-29477823-G-T c.1522C>A p.L508I Missense 11/29 - 1
18-29477830-A-G c.1515T>C p.C505= Synonymous 11/29 - 1
18-29477831-CA-GC c.1513_1514delinsGC p.C505A Missense 11/29 - 1
18-29477841-C-T c.1504G>A p.A502T Missense 11/29 - 1
18-29480683-A-T c.1490+205T>A - IntronicSNV - 10/28 1
18-29480820-GAAA-G c.1490+65_1490+67del - IntronicDeletion - 10/28 1
18-29480820-GAA-G c.1490+66_1490+67del - IntronicDeletion - 10/28 1
18-29480820-GA-G c.1490+67del - IntronicDeletion - 10/28 2
18-29480836-AG-A c.1490+52del - IntronicDeletion - 10/28 1
18-29480888-T-C c.1490A>G p.K497R Missense 10/29 - 1
18-29480898-TCTC-T c.1478_1480del p.R493_D494delinsN MultiAAMissense 10/29 - 1
18-29480901-T-C c.1477A>G p.R493G Missense 10/29 - 1
18-29480912-A-G c.1466T>C p.I489T Missense 10/29 - 1
18-29480920-A-G c.1458T>C p.D486= Synonymous 10/29 - 3
18-29480933-G-A c.1445C>T p.A482V Missense 10/29 - 2
18-29480937-G-A c.1441C>T p.P481S Missense 10/29 - 3
18-29480941-T-A c.1437A>T p.P479= Synonymous 10/29 - 2
18-29480941-T-C c.1437A>G p.P479= Synonymous 10/29 - 3
18-29480941-T-G c.1437A>C p.P479= Synonymous 10/29 - 2
18-29480942-G-C c.1436C>G p.P479R Missense 10/29 - 6
18-29480943-G-A c.1435C>T p.P479S Missense 10/29 - 1
18-29480944-CC-GA c.1433_1434delinsTC p.R478I Missense 10/29 - 1
18-29480945-CT-TG c.1432_1433delinsCA p.R478Q Missense 10/29 - 1
18-29480948-G-T c.1430C>A p.P477H Missense 10/29 - 4
18-29480949-G-A c.1429C>T p.P477S Missense 10/29 - 1
18-29480952-C-G c.1426G>C p.A476P Missense 10/29 - 1
18-29480952-C-T c.1426G>A p.A476T Missense 10/29 - 5
18-29480955-C-T c.1423G>A p.G475R Missense 10/29 - 1
18-29480957-G-A c.1421C>T p.P474L Missense 10/29 - 4
18-29480957-G-T c.1421C>A p.P474Q Missense 10/29 - 3
18-29480961-G-A c.1417C>T p.Q473* Nonsense 10/29 - 1
18-29480976-C-T c.1402G>A p.V468M Missense 10/29 - 1
18-29480982-C-T c.1396G>A p.A466T Missense 10/29 - 2
18-29480983-C-T c.1395G>A p.M465I Missense 10/29 - 2
18-29481000-G-T c.1390-12C>A - IntronicSNV - 9/28 1
18-29481132-G-GA c.1390-145dup - IntronicInsertion - 9/28 1
18-29483090-T-C c.1390-2102A>G - IntronicSNV - 9/28 1
18-29485543-C-G c.1389+1880G>C - IntronicSNV - 9/28 1
18-29487427-G-A c.1385C>T p.A462V Missense 9/29 - 1
18-29487427-G-C c.1385C>G p.A462G Missense 9/29 - 1
18-29487429-A-C c.1383T>G p.G461= Synonymous 9/29 - 1
18-29487429-A-G c.1383T>C p.G461= Synonymous 9/29 - 1
18-29487429-A-T c.1383T>A p.G461= Synonymous 9/29 - 1
18-29487430-C-G c.1382G>C p.G461A Missense 9/29 - 2
18-29487433-G-A c.1379C>T p.A460V Missense 9/29 - 1
18-29487446-T-C c.1366A>G p.M456V Missense 9/29 - 1
18-29487447-TGC-ACA c.1363_1365delinsTGT p.A455C Missense 9/29 - 1
18-29487449-C-T c.1363G>A p.A455T Missense 9/29 - 1
18-29487452-G-C c.1360C>G p.Q454E Missense 9/29 - 1
18-29487454-T-C c.1358A>G p.D453G Missense 9/29 - 1
18-29487454-T-G c.1358A>C p.D453A Missense 9/29 - 3
18-29487455-C-A c.1357G>T p.D453Y Missense 9/29 - 1
18-29487460-A-C c.1352T>G p.L451R Missense 9/29 - 1
18-29487461-G-A c.1351C>T p.L451F Missense 9/29 - 2
18-29487471-C-A c.1341G>T p.K447N Missense 9/29 - 1
18-29487471-C-G c.1341G>C p.K447N Missense 9/29 - 1
18-29487476-C-T c.1336G>A p.A446T Missense 9/29 - 1
18-29487477-A-T c.1335T>A p.T445= Synonymous 9/29 - 3
18-29487485-A-G c.1327T>C p.Y443H Missense 9/29 - 1
18-29487486-G-T c.1326C>A p.C442* Nonsense 9/29 - 1
18-29487503-C-A c.1309G>T p.D437Y Missense 9/29 - 2
18-29487509-G-A c.1303C>T p.H435Y Missense 9/29 - 1
18-29487509-G-T c.1303C>A p.H435N Missense 9/29 - 1
18-29487512-G-T c.1300C>A p.Q434K Missense 9/29 - 1
18-29487515-C-T c.1297G>A p.V433M Missense 9/29 - 1
18-29487516-C-A c.1296G>T p.L432F Missense 9/29 - 1
18-29487520-A-C c.1292T>G p.F431C Missense 9/29 - 1
18-29487516-C-CA c.1295dup p.L432Ffs*6 Frameshift 9/29 - 3
18-29487524-A-G c.1288T>C p.C430R Missense 9/29 - 1
18-29487539-T-C c.1273A>G p.K425E Missense 9/29 - 3
18-29487540-C-T c.1272G>A p.R424= Synonymous 9/29 - 1
18-29487548-G-A c.1264C>T p.Q422* Nonsense 9/29 - 7
18-29487548-G-T c.1264C>A p.Q422K Missense 9/29 - 1
18-29487564-C-A c.1248G>T p.P416= Synonymous 9/29 - 2
18-29487564-C-G c.1248G>C p.P416= Synonymous 9/29 - 2
18-29487564-C-T c.1248G>A p.P416= Synonymous 9/29 - 3
18-29487566-G-A c.1246C>T p.P416S Missense 9/29 - 2
18-29487567-C-A c.1245G>T p.P415= Synonymous 9/29 - 5
18-29487567-C-T c.1245G>A p.P415= Synonymous 9/29 - 5
18-29487569-G-A c.1243C>T p.P415S Missense 9/29 - 4
18-29487596-T-A c.1239-23A>T - IntronicSNV - 8/28 2
18-29488025-C-T c.1238+241G>A - IntronicSNV - 8/28 1
18-29488265-C-G c.1238+1G>C - IntronicSNV - 8/28 1
18-29488266-A-G c.1238T>C p.L413P Missense 8/29 - 2
18-29488280-TA-T c.1224del p.N408Kfs*106 Frameshift 8/29 - 1
18-29488286-C-A c.1218G>T p.L406= Synonymous 8/29 - 2
18-29488286-C-G c.1218G>C p.L406= Synonymous 8/29 - 1
18-29488286-C-T c.1218G>A p.L406= Synonymous 8/29 - 1
18-29488288-G-A c.1216C>T p.L406= Synonymous 8/29 - 1
18-29488291-C-A c.1213G>T p.D405Y Missense 8/29 - 2
18-29488292-A-C c.1212T>G p.N404K Missense 8/29 - 1
18-29488309-G-A c.1195C>T p.P399S Missense 8/29 - 1
18-29488310-A-C c.1194T>G p.V398= Synonymous 8/29 - 1
18-29488310-A-G c.1194T>C p.V398= Synonymous 8/29 - 1
18-29488310-A-T c.1194T>A p.V398= Synonymous 8/29 - 1
18-29488317-C-A c.1187G>T p.S396I Missense 8/29 - 2
18-29488319-G-A c.1185C>T p.G395= Synonymous 8/29 - 1
18-29488319-G-C c.1185C>G p.G395= Synonymous 8/29 - 1
18-29488319-G-T c.1185C>A p.G395= Synonymous 8/29 - 1
18-29488321-C-A c.1183G>T p.G395C Missense 8/29 - 1
18-29488329-C-A c.1175G>T p.W392L Missense 8/29 - 1
18-29488333-T-TA c.1170_1171insT p.K391* Nonsense 8/29 - 1
18-29488330-AT-A c.1173del p.K391Nfs*16 Frameshift 8/29 - 4
18-29488337-AG-CT c.1166_1167inv p.T389K Missense 8/29 - 1
18-29488344-G-A c.1160C>T p.S387F Missense 8/29 - 2
18-29488345-A-T c.1159T>A p.S387T Missense 8/29 - 1
18-29488351-G-GA c.1152dup p.L385Sfs*6 Frameshift 8/29 - 2
18-29488353-G-A c.1151C>T p.S384F Missense 8/29 - 1
18-29488356-C-T c.1148G>A p.R383Q Missense 8/29 - 4
18-29488361-C-A c.1143G>T p.L381F Missense 8/29 - 1
18-29488361-C-G c.1143G>C p.L381F Missense 8/29 - 1
18-29488369-T-C c.1135A>G p.K379E Missense 8/29 - 1
18-29488371-C-A c.1133G>T p.R378I Missense 8/29 - 1
18-29488377-A-G c.1127T>C p.I376T Missense 8/29 - 1
18-29488378-T-C c.1126A>G p.I376V Missense 8/29 - 1
18-29488699-C-A c.1122+18G>T - IntronicSNV - 7/28 1
18-29488722-C-T c.1117G>A p.D373N Missense 7/29 - 5
18-29488726-T-C c.1113A>G p.L371= Synonymous 7/29 - 1
18-29488732-C-A c.1107G>T p.R369S Missense 7/29 - 1
18-29488732-C-T c.1107G>A p.R369= Synonymous 7/29 - 3
18-29488734-T-G c.1105A>C p.R369= Synonymous 7/29 - 2
18-29488743-T-C c.1096A>G p.K366E Missense 7/29 - 1
18-29488744-C-A c.1095G>T p.E365D Missense 7/29 - 1
18-29488744-C-T c.1095G>A p.E365= Synonymous 7/29 - 1
18-29488748-A-G c.1091T>C p.I364T Missense 7/29 - 1
18-29488754-G-A c.1085C>T p.P362L Missense 7/29 - 4
18-29488761-G-A c.1078C>T p.L360F Missense 7/29 - 1
18-29488766-C-T c.1073G>A p.R358Q Missense 7/29 - 1
18-29488778-T-A c.1061A>T p.E354V Missense 7/29 - 1
18-29488792-T-A c.1047A>T p.R349= Synonymous 7/29 - 2
18-29488792-T-C c.1047A>G p.R349= Synonymous 7/29 - 1
18-29488792-T-G c.1047A>C p.R349= Synonymous 7/29 - 1
18-29488794-G-A c.1045C>T p.R349* Nonsense 7/29 - 2
18-29488794-G-T c.1045C>A p.R349= Synonymous 7/29 - 1
18-29488796-AT-A c.1042del p.I348Ffs*17 Frameshift 7/29 - 1
18-29488799-C-A c.1040G>T p.R347I Missense 7/29 - 3
18-29488799-C-T c.1040G>A p.R347K Missense 7/29 - 1
18-29488804-A-G c.1035T>C p.H345= Synonymous 7/29 - 13
18-29488809-C-T c.1030G>A p.D344N Missense 7/29 - 1
18-29488815-G-A c.1024C>T p.L342F Missense 7/29 - 2
18-29488823-C-A c.1016G>T p.C339F Missense 7/29 - 1
18-29488828-CA-C c.1011del p.A338Hfs*3 Frameshift 7/29 - 1
18-29488834-A-G c.1005T>C p.I335= Synonymous 7/29 - 1
18-29488836-T-C c.1003A>G p.I335V Missense 7/29 - 1
18-29488839-T-C c.1000A>G p.I334V Missense 7/29 - 1
18-29488847-T-A c.992A>T p.N331I Missense 7/29 - 1
18-29488851-C-G c.988G>C p.G330R Missense 7/29 - 1
18-29488851-C-T c.988G>A p.G330R Missense 7/29 - 1
18-29488855-C-A c.984G>T p.K328N Missense 7/29 - 1
18-29488861-TTTC-T c.976_978del p.E326del InFrameDeletion 7/29 - 1
18-29488873-TG-AA c.965_966delinsTT p.S322F Missense 7/29 - 1
18-29488880-G-T c.959C>A p.S320Y Missense 7/29 - 2
18-29488883-CT-AG c.955_956inv p.R319L Missense 7/29 - 1
18-29488893-C-A c.946G>T p.D316Y Missense 7/29 - 1
18-29488898-C-T c.941G>A p.G314D Missense 7/29 - 1
18-29488899-C-G c.940G>C p.G314R Missense 7/29 - 1
18-29488906-A-G c.933T>C p.S311= Synonymous 7/29 - 2
18-29488916-G-A c.923C>T p.P308L Missense 7/29 - 2
18-29488917-G-A c.922C>T p.P308S Missense 7/29 - 1
18-29488918-G-A c.921C>T p.D307= Synonymous 7/29 - 1
18-29488925-G-T c.914C>A p.S305Y Missense 7/29 - 1
18-29488931-T-A c.908A>T p.E303V Missense 7/29 - 1
18-29488942-T-A c.897A>T p.P299= Synonymous 7/29 - 1
18-29488942-T-C c.897A>G p.P299= Synonymous 7/29 - 1
18-29488942-T-G c.897A>C p.P299= Synonymous 7/29 - 1
18-29488947-G-A c.892C>T p.H298Y Missense 7/29 - 1
18-29488949-G-A c.890C>T p.A297V Missense 7/29 - 1
18-29488952-C-G c.887G>C p.R296T Missense 7/29 - 1
18-29488952-CT-TG c.886_887delinsCA p.R296Q Missense 7/29 - 1
18-29488954-A-C c.885T>G p.F295L Missense 7/29 - 6
18-29488954-A-T c.885T>A p.F295L Missense 7/29 - 4
18-29488956-A-G c.883T>C p.F295L Missense 7/29 - 5
18-29488959-T-A c.880A>T p.N294Y Missense 7/29 - 1
18-29488970-C-G c.869G>C p.G290A Missense 7/29 - 1
18-29488970-C-T c.869G>A p.G290D Missense 7/29 - 1
18-29489076-C-T c.866-103G>A - IntronicSNV - 6/28 1
18-29489195-C-T c.866-222G>A - IntronicSNV - 6/28 1
18-29489474-T-C c.865+156A>G - IntronicSNV - 6/28 1
18-29489487-T-C c.865+143A>G - IntronicSNV - 6/28 1
18-29489625-A-G c.865+5T>C - IntronicSNV - 6/28 1
18-29489627-G-A c.865+3C>T - IntronicSNV - 6/28 1
18-29489630-C-A c.865G>T p.D289Y Missense 6/29 - 1
18-29489639-C-A c.856G>T p.E286* Nonsense 6/29 - 1
18-29489639-C-T c.856G>A p.E286K Missense 6/29 - 14
18-29489640-G-A c.855C>T p.N285= Synonymous 6/29 - 1
18-29489642-T-C c.853A>G p.N285D Missense 6/29 - 1
18-29489646-T-A c.849A>T p.L283F Missense 6/29 - 1
18-29489646-T-G c.849A>C p.L283F Missense 6/29 - 1
18-29489649-TCC-CCA c.844_846delinsTGG p.G282W Missense 6/29 - 1
18-29489651-C-G c.844G>C p.G282R Missense 6/29 - 1
18-29489651-C-T c.844G>A p.G282R Missense 6/29 - 1
18-29489662-A-C c.833T>G p.L278R Missense 6/29 - 1
18-29489675-C-T c.820G>A p.D274N Missense 6/29 - 1
18-29489676-A-C c.819T>G p.S273= Synonymous 6/29 - 1
18-29489676-A-G c.819T>C p.S273= Synonymous 6/29 - 1
18-29489676-A-T c.819T>A p.S273= Synonymous 6/29 - 1
18-29489686-T-C c.809A>G p.N270S Missense 6/29 - 1
18-29489698-G-A c.797C>T p.T266I Missense 6/29 - 2
18-29489701-CA-GT c.793_794delinsAC p.C265T Missense 6/29 - 1
18-29489711-C-A c.784G>T p.D262Y Missense 6/29 - 1
18-29489718-TG-AA c.776_777delinsTT p.S259F Missense 6/29 - 1
18-29493026-G-A c.771+306C>T - IntronicSNV - 5/28 1
18-29493259-A-G c.771+73T>C - IntronicSNV - 5/28 1
18-29493334-G-A c.769C>T p.Q257* Nonsense 5/29 - 2
18-29493334-G-T c.769C>A p.Q257K Missense 5/29 - 1
18-29493339-T-A c.764A>T p.Q255L Missense 5/29 - 1
18-29493341-A-G c.762T>C p.I254= Synonymous 5/29 - 1
18-29493341-A-T c.762T>A p.I254= Synonymous 5/29 - 1
18-29493345-C-T c.758G>A p.S253N Missense 5/29 - 1
18-29493348-T-C c.755A>G p.N252S Missense 5/29 - 1
18-29493354-T-C c.749A>G p.Q250R Missense 5/29 - 1
18-29493357-A-G c.746T>C p.L249P Missense 5/29 - 1
18-29493366-C-G c.737G>C p.S246T Missense 5/29 - 1
18-29493366-CT-AG c.736_737inv p.S246L Missense 5/29 - 1
18-29493372-G-A c.731C>T p.P244L Missense 5/29 - 4
18-29493376-C-G c.727G>C p.D243H Missense 5/29 - 2
18-29493379-G-A c.724C>T p.P242S Missense 5/29 - 1
18-29493383-C-A c.720G>T p.Q240H Missense 5/29 - 1
18-29493383-C-G c.720G>C p.Q240H Missense 5/29 - 1
18-29493393-G-A c.710C>T p.S237L Missense 5/29 - 2
18-29493394-A-G c.709T>C p.S237P Missense 5/29 - 1
18-29493397-C-T c.706G>A p.A236T Missense 5/29 - 1
18-29493399-C-G c.704G>C p.R235P Missense 5/29 - 1
18-29493399-C-T c.704G>A p.R235Q Missense 5/29 - 1
18-29493400-G-A c.703C>T p.R235* Nonsense 5/29 - 2
18-29493402-T-G c.701A>C p.N234T Missense 5/29 - 1
18-29493405-G-A c.698C>T p.S233F Missense 5/29 - 2
18-29493411-C-T c.692G>A p.R231Q Missense 5/29 - 3
18-29493414-G-T c.689C>A p.S230Y Missense 5/29 - 1
18-29493415-A-G c.688T>C p.S230P Missense 5/29 - 1
18-29493430-A-G c.673T>C p.L225= Synonymous 5/29 - 1
18-29493432-T-C c.671A>G p.Y224C Missense 5/29 - 1
18-29493432-T-G c.671A>C p.Y224S Missense 5/29 - 1
18-29493434-G-A c.669C>T p.C223= Synonymous 5/29 - 1
18-29493435-CA-GT c.667_668delinsAC p.C223T Missense 5/29 - 1
18-29493439-C-A c.664G>T p.G222C Missense 5/29 - 1
18-29493439-C-T c.664G>A p.G222S Missense 5/29 - 1
18-29493441-T-C c.662A>G p.Q221R Missense 5/29 - 1
18-29493443-A-C c.660T>G p.T220= Synonymous 5/29 - 1
18-29493443-A-G c.660T>C p.T220= Synonymous 5/29 - 1
18-29493443-AG-CC c.659_660delinsGG p.T220R Missense 5/29 - 1
18-29493443-A-T c.660T>A p.T220= Synonymous 5/29 - 1
18-29493448-C-T c.655G>A p.G219R Missense 5/29 - 1
18-29493454-T-C c.649A>G p.K217E Missense 5/29 - 1
18-29493455-C-A c.648G>T p.Q216H Missense 5/29 - 2
18-29493455-C-G c.648G>C p.Q216H Missense 5/29 - 2
18-29493456-T-A c.647A>T p.Q216L Missense 5/29 - 1
18-29493461-C-A c.642G>T p.M214I Missense 5/29 - 1
18-29493475-T-C c.628A>G p.I210V Missense 5/29 - 1
18-29493477-G-A c.626C>T p.S209L Missense 5/29 - 4
18-29493481-C-T c.622G>A p.E208K Missense 5/29 - 1
18-29493533-T-A c.618-48A>T - IntronicSNV - 4/28 7
18-29493616-A-G c.618-131T>C - IntronicSNV - 4/28 1
18-29493770-C-T c.618-285G>A - IntronicSNV - 4/28 1
18-29495432-AAG-A c.617+802_617+803del - IntronicDeletion - 4/28 1
18-29496021-A-G c.617+214T>C - IntronicSNV - 4/28 1
18-29496076-G-A c.617+159C>T - IntronicSNV - 4/28 1
18-29496107-T-C c.617+128A>G - IntronicSNV - 4/28 1
18-29496107-T-G c.617+128A>C - IntronicSNV - 4/28 1
18-29496218-C-T c.617+17G>A - IntronicSNV - 4/28 5
18-29496235-C-T c.617G>A p.R206K Missense 4/29 - 2
18-29496240-T-C c.612A>G p.E204= Synonymous 4/29 - 1
18-29496245-C-A c.607G>T p.D203Y Missense 4/29 - 1
18-29496245-C-G c.607G>C p.D203H Missense 4/29 - 1
18-29496250-G-A c.602C>T p.A201V Missense 4/29 - 1
18-29496253-CT-TA c.598_599delinsTA p.S200Y Missense 4/29 - 1
18-29496255-TAC-CAT c.595_597delinsATG p.V199M Missense 4/29 - 1
18-29496268-A-C c.584T>G p.L195R Missense 4/29 - 2
18-29496272-C-G c.580G>C p.V194L Missense 4/29 - 1
18-29496272-C-T c.580G>A p.V194I Missense 4/29 - 1
18-29496274-T-C c.578A>G p.Y193C Missense 4/29 - 2
18-29496280-T-A c.572A>T p.K191I Missense 4/29 - 1
18-29496292-G-A c.560C>T p.P187L Missense 4/29 - 1
18-29496293-G-C c.559C>G p.P187A Missense 4/29 - 1
18-29496299-A-C c.553T>G p.F185V Missense 4/29 - 1
18-29496304-T-A c.548A>T p.K183M Missense 4/29 - 1
18-29496308-G-A c.544C>T p.P182S Missense 4/29 - 1
18-29496309-G-C c.543C>G p.Y181* Nonsense 4/29 - 2
18-29496309-G-T c.543C>A p.Y181* Nonsense 4/29 - 1
18-29496316-T-A c.536A>T p.Y179F Missense 4/29 - 1
18-29496318-A-C c.534T>G p.D178E Missense 4/29 - 1
18-29496318-A-G c.534T>C p.D178= Synonymous 4/29 - 3
18-29496318-A-T c.534T>A p.D178E Missense 4/29 - 1
18-29496332-G-A c.520C>T p.Q174* Nonsense 4/29 - 3
18-29496337-C-G c.515G>C p.R172P Missense 4/29 - 1
18-29496337-C-T c.515G>A p.R172Q Missense 4/29 - 10
18-29496338-G-A c.514C>T p.R172* Nonsense 4/29 - 2
18-29496353-GA-G c.499del p.S167Hfs*33 Frameshift 4/29 - 2
18-29496371-C-G c.481G>C p.E161Q Missense 4/29 - 1
18-29496376-G-T c.476C>A p.P159H Missense 4/29 - 1
18-29496380-C-T c.472G>A p.E158K Missense 4/29 - 1
18-29496381-A-G c.471T>C p.A157= Synonymous 4/29 - 1
18-29496382-G-C c.470C>G p.A157G Missense 4/29 - 1
18-29496388-CT-AG c.463_464inv p.S155L Missense 4/29 - 1
18-29496394-G-A c.458C>T p.S153L Missense 4/29 - 1
18-29496396-C-T c.456G>A p.A152= Synonymous 4/29 - 1
18-29496397-G-A c.455C>T p.A152V Missense 4/29 - 2
18-29496406-A-G c.446T>C p.M149T Missense 4/29 - 1
18-29496408-A-G c.444T>C p.C148= Synonymous 4/29 - 1
18-29497539-A-G c.442+2T>C - IntronicSNV - 3/28 2
18-29497548-A-G c.435T>C p.Y145= Synonymous 3/29 - 1
18-29497549-T-C c.434A>G p.Y145C Missense 3/29 - 1
18-29497554-G-A c.429C>T p.N143= Synonymous 3/29 - 1
18-29497557-C-A c.426G>T p.L142= Synonymous 3/29 - 1
18-29497557-C-G c.426G>C p.L142= Synonymous 3/29 - 1
18-29497557-C-T c.426G>A p.L142= Synonymous 3/29 - 2
18-29497559-G-A c.424C>T p.L142= Synonymous 3/29 - 1
18-29497558-AG-TA c.424_425delinsTA p.L142* Nonsense 3/29 - 1
18-29497565-C-A c.418G>T p.E140* Nonsense 3/29 - 3
18-29497567-T-C c.416A>G p.H139R Missense 3/29 - 1
18-29497568-G-C c.415C>G p.H139D Missense 3/29 - 1
18-29497571-C-T c.412G>A p.D138N Missense 3/29 - 1
18-29497572-C-T c.411G>A p.L137= Synonymous 3/29 - 2
18-29497573-A-G c.410T>C p.L137S Missense 3/29 - 33
18-29497573-A-T c.410T>A p.L137* Nonsense 3/29 - 33
18-29497575-TG-GT c.407_408delinsAC p.A136D Missense 3/29 - 1
18-29497576-G-C c.407C>G p.A136G Missense 3/29 - 1
18-29497577-C-T c.406G>A p.A136T Missense 3/29 - 2
18-29497584-C-A c.399G>T p.S133= Synonymous 3/29 - 2
18-29497584-C-G c.399G>C p.S133= Synonymous 3/29 - 3
18-29497584-C-T c.399G>A p.S133= Synonymous 3/29 - 2
18-29497585-G-A c.398C>T p.S133L Missense 3/29 - 1
18-29497585-G-C c.398C>G p.S133W Missense 3/29 - 1
18-29497590-A-C c.393T>G p.L131= Synonymous 3/29 - 2
18-29497590-A-G c.393T>C p.L131= Synonymous 3/29 - 1
18-29497590-A-T c.393T>A p.L131= Synonymous 3/29 - 1
18-29497592-G-A c.391C>T p.L131F Missense 3/29 - 1
18-29497592-G-C c.391C>G p.L131V Missense 3/29 - 1
18-29497599-T-C c.384A>G p.E128= Synonymous 3/29 - 1
18-29497601-C-G c.382G>C p.E128Q Missense 3/29 - 1
18-29497601-C-T c.382G>A p.E128K Missense 3/29 - 1
18-29497607-A-G c.376T>C p.Y126H Missense 3/29 - 1
18-29497608-A-C c.375T>G p.S125= Synonymous 3/29 - 1
18-29497609-G-A c.374C>T p.S125F Missense 3/29 - 1
18-29497611-C-A c.372G>T p.E124D Missense 3/29 - 1
18-29497613-C-T c.370G>A p.E124K Missense 3/29 - 1
18-29497614-A-C c.369T>G p.F123L Missense 3/29 - 1
18-29497614-A-T c.369T>A p.F123L Missense 3/29 - 1
18-29497616-A-G c.367T>C p.F123L Missense 3/29 - 1
18-29497622-G-A c.361C>T p.P121S Missense 3/29 - 3
18-29497623-A-C c.360T>G p.T120= Synonymous 3/29 - 1
18-29497623-A-G c.360T>C p.T120= Synonymous 3/29 - 1
18-29497623-A-T c.360T>A p.T120= Synonymous 3/29 - 1
18-29497629-G-A c.354C>T p.A118= Synonymous 3/29 - 1
18-29497722-A-T c.353-92T>A - IntronicSNV - 2/28 1
18-29502933-G-C c.353-5303C>G - IntronicSNV - 2/28 1
18-29502933-G-T c.353-5303C>A - IntronicSNV - 2/28 1
18-29505344-CA-C c.352+5947del - IntronicDeletion - 2/28 1
18-29507058-C-A c.352+4234G>T - IntronicSNV - 2/28 1
18-29511293-A-G c.351T>C p.S117= Synonymous 2/29 - 1
18-29511294-C-T c.350G>A p.S117N Missense 2/29 - 1
18-29511295-T-C c.349A>G p.S117G Missense 2/29 - 1
18-29511301-T-C c.343A>G p.N115D Missense 2/29 - 2
18-29511302-A-C c.342T>G p.L114= Synonymous 2/29 - 1
18-29511313-C-T c.331G>A p.D111N Missense 2/29 - 1
18-29511315-C-T c.329G>A p.G110E Missense 2/29 - 2
18-29511319-C-T c.325G>A p.A109T Missense 2/29 - 1
18-29511334-C-T c.310G>A p.A104T Missense 2/29 - 1
18-29511337-C-T c.307G>A p.V103I Missense 2/29 - 1
18-29511338-T-C c.306A>G p.L102= Synonymous 2/29 - 1
18-29511343-C-G c.301G>C p.G101R Missense 2/29 - 1
18-29511343-C-T c.301G>A p.G101R Missense 2/29 - 1
18-29511347-T-A c.297A>T p.A99= Synonymous 2/29 - 1
18-29511352-G-C c.292C>G p.P98A Missense 2/29 - 1
18-29511356-A-T c.288T>A p.S96R Missense 2/29 - 1
18-29511359-G-A c.285C>T p.G95= Synonymous 2/29 - 1
18-29511359-G-C c.285C>G p.G95= Synonymous 2/29 - 1
18-29511359-G-T c.285C>A p.G95= Synonymous 2/29 - 1
18-29511360-C-T c.284G>A p.G95D Missense 2/29 - 1
18-29511363-GA-TT c.280_281delinsAA p.S94N Missense 2/29 - 1
18-29511368-A-G c.276T>C p.V92= Synonymous 2/29 - 1
18-29511369-A-G c.275T>C p.V92A Missense 2/29 - 2
18-29511372-T-A c.272A>T p.D91V Missense 2/29 - 5
18-29511378-A-G c.266T>C p.L89S Missense 2/29 - 1
18-29511386-C-T c.258G>A p.R86= Synonymous 2/29 - 1
18-29511387-C-T c.257G>A p.R86Q Missense 2/29 - 1
18-29511388-G-A c.256C>T p.R86W Missense 2/29 - 1
18-29511388-G-C c.256C>G p.R86G Missense 2/29 - 2
18-29511393-G-C c.251C>G p.A84G Missense 2/29 - 1
18-29511399-G-A c.245C>T p.P82L Missense 2/29 - 1
18-29511401-C-A c.243G>T p.Q81H Missense 2/29 - 1
18-29511403-G-T c.241C>A p.Q81K Missense 2/29 - 1
18-29511406-G-A c.238C>T p.P80S Missense 2/29 - 2
18-29511413-G-A c.231C>T p.T77= Synonymous 2/29 - 1
18-29511413-G-T c.231C>A p.T77= Synonymous 2/29 - 1
18-29511423-T-C c.221A>G p.N74S Missense 2/29 - 4
18-29511427-T-C c.217A>G p.S73G Missense 2/29 - 1
18-29511428-T-A c.216A>T p.V72= Synonymous 2/29 - 1
18-29511428-T-C c.216A>G p.V72= Synonymous 2/29 - 1
18-29511428-T-G c.216A>C p.V72= Synonymous 2/29 - 1
18-29511429-A-C c.215T>G p.V72G Missense 2/29 - 1
18-29511432-G-A c.212C>T p.A71V Missense 2/29 - 1
18-29511436-T-A c.208A>T p.I70L Missense 2/29 - 1
18-29511436-T-G c.208A>C p.I70L Missense 2/29 - 1
18-29511437-C-A c.207G>T p.K69N Missense 2/29 - 1
18-29511437-C-G c.207G>C p.K69N Missense 2/29 - 1
18-29511438-T-C c.206A>G p.K69R Missense 2/29 - 1
18-29511443-A-T c.201T>A p.N67K Missense 2/29 - 1
18-29511444-T-G c.200A>C p.N67T Missense 2/29 - 3
18-29511445-T-A c.199A>T p.N67Y Missense 2/29 - 1
18-29511447-T-A c.197A>T p.K66I Missense 2/29 - 1
18-29511447-T-G c.197A>C p.K66T Missense 2/29 - 1
18-29511447-TT-GC c.196_197delinsGC p.K66A Missense 2/29 - 1
18-29511448-T-C c.196A>G p.K66E Missense 2/29 - 1
18-29511455-G-T c.189C>A p.H63Q Missense 2/29 - 1
18-29511456-T-C c.188A>G p.H63R Missense 2/29 - 2
18-29511462-T-C c.182A>G p.Q61R Missense 2/29 - 1
18-29511465-T-G c.179A>C p.N60T Missense 2/29 - 1
18-29511472-G-A c.172C>T p.P58S Missense 2/29 - 2
18-29511480-A-G c.164T>C p.M55T Missense 2/29 - 1
18-29511482-G-C c.162C>G p.H54Q Missense 2/29 - 1
18-29511482-G-T c.162C>A p.H54Q Missense 2/29 - 1
18-29511663-G-A c.158-177C>T - IntronicSNV - 1/28 1
18-29515512-A-G c.158-4026T>C - IntronicSNV - 1/28 1
18-29519923-C-T c.157+2648G>A - IntronicSNV - 1/28 1
18-29522573-T-TA c.154_155insT p.E52Vfs*8 Frameshift 1/29 - 1
18-29522585-C-A c.143G>T p.R48L Missense 1/29 - 1
18-29522587-G-A c.141C>T p.S47= Synonymous 1/29 - 1
18-29522588-G-C c.140C>G p.S47C Missense 1/29 - 1
18-29522589-A-C c.139T>G p.S47A Missense 1/29 - 1
18-29522589-A-T c.139T>A p.S47T Missense 1/29 - 1
18-29522591-A-C c.137T>G p.F46C Missense 1/29 - 1
18-29522599-A-C c.129T>G p.L43= Synonymous 1/29 - 1
18-29522599-A-G c.129T>C p.L43= Synonymous 1/29 - 1
18-29522599-A-T c.129T>A p.L43= Synonymous 1/29 - 1
18-29522602-C-A c.126G>T p.L42= Synonymous 1/29 - 2
18-29522602-C-G c.126G>C p.L42= Synonymous 1/29 - 2
18-29522602-C-T c.126G>A p.L42= Synonymous 1/29 - 2
18-29522604-G-A c.124C>T p.L42= Synonymous 1/29 - 2
18-29522606-TC-GG c.121_122delinsCC p.E41P Missense 1/29 - 1
18-29522608-C-A c.120G>T p.A40= Synonymous 1/29 - 1
18-29522608-C-G c.120G>C p.A40= Synonymous 1/29 - 1
18-29522608-C-T c.120G>A p.A40= Synonymous 1/29 - 1
18-29522615-C-A c.113G>T p.S38I Missense 1/29 - 1
18-29522615-CT-AA c.112_113delinsTT p.S38F Missense 1/29 - 1
18-29522618-A-G c.110T>C p.L37P Missense 1/29 - 1
18-29522621-T-C c.107A>G p.H36R Missense 1/29 - 1
18-29522624-T-C c.104A>G p.N35S Missense 1/29 - 1
18-29522624-T-G c.104A>C p.N35T Missense 1/29 - 1
18-29522629-AC-TT c.98_99delinsAA p.R33Q Missense 1/29 - 1
18-29522637-G-A c.91C>T p.L31F Missense 1/29 - 1
18-29522643-C-T c.85G>A p.E29K Missense 1/29 - 1
18-29522645-G-A c.83C>T p.A28V Missense 1/29 - 1
18-29522645-G-C c.83C>G p.A28G Missense 1/29 - 1
18-29522645-GC-CG c.82_83delinsCG p.A28R Missense 1/29 - 1
18-29522647-T-A c.81A>T p.E27D Missense 1/29 - 1
18-29522649-C-T c.79G>A p.E27K Missense 1/29 - 1
18-29522651-T-C c.77A>G p.D26G Missense 1/29 - 1
18-29522658-A-G c.70T>C p.C24R Missense 1/29 - 1
18-29522660-AG-GA c.67_68delinsTC p.L23S Missense 1/29 - 1
18-29522660-A-T c.68T>A p.L23Q Missense 1/29 - 1
18-29522661-G-A c.67C>T p.L23= Synonymous 1/29 - 1
18-29522663-G-T c.65C>A p.A22E Missense 1/29 - 6
18-29522664-C-A c.64G>T p.A22S Missense 1/29 - 1
18-29522664-C-G c.64G>C p.A22P Missense 1/29 - 1
18-29522665-A-C c.63T>G p.A21= Synonymous 1/29 - 4
18-29522665-A-G c.63T>C p.A21= Synonymous 1/29 - 4
18-29522665-AGC-TTG c.61_63delinsCAA p.A21Q Missense 1/29 - 1
18-29522665-A-T c.63T>A p.A21= Synonymous 1/29 - 4
18-29522666-GC-CA c.61_62delinsTG p.A21C Missense 1/29 - 1
18-29522672-C-A c.56G>T p.C19F Missense 1/29 - 1
18-29522673-A-T c.55T>A p.C19S Missense 1/29 - 1
18-29522679-C-T c.49G>A p.V17I Missense 1/29 - 1
18-29522680-G-T c.48C>A p.F16L Missense 1/29 - 1
18-29522684-G-A c.44C>T p.S15F Missense 1/29 - 4
18-29522687-T-G c.41A>C p.D14A Missense 1/29 - 1
18-29522694-T-C c.34A>G p.I12V Missense 1/29 - 2
18-29522695-TAG-AAA c.31_33delinsTTT p.L11F Missense 1/29 - 1
18-29522698-C-T c.30G>A p.E10= Synonymous 1/29 - 1
18-29522702-T-C c.26A>G p.Q9R Missense 1/29 - 1
18-29522707-TG-AA c.20_21delinsTT p.S7F Missense 1/29 - 1
18-29522710-T-C c.18A>G p.Q6= Synonymous 1/29 - 3
18-29522714-A-G c.14T>C p.V5A Missense 1/29 - 1
18-29522724-C-T c.4G>A p.A2T Missense 1/29 - 1
18-29522726-A-G c.2T>C p.M1? Missense 1/29 - 1