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 |