Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.42777163A>CCA392015653TTBK2c.1277T>G (p.Val426Gly)
c.1172T>G (p.Val391Gly)
c.2492T>G (p.Val831Gly)
c.1295T>G (p.Val432Gly)
c.1070T>G (p.Val357Gly)
c.1262T>G (p.Val421Gly)
c.1010T>G (p.Val337Gly)
c.998T>G (p.Val333Gly)
15g.42777163A>GCA392015655TTBK2c.1277T>C (p.Val426Ala)
c.1172T>C (p.Val391Ala)
c.2492T>C (p.Val831Ala)
c.1295T>C (p.Val432Ala)
c.1070T>C (p.Val357Ala)
c.1262T>C (p.Val421Ala)
c.1010T>C (p.Val337Ala)
c.998T>C (p.Val333Ala)
15g.42777163A>TCA392015659TTBK2c.1277T>A (p.Val426Asp)
c.1172T>A (p.Val391Asp)
c.2492T>A (p.Val831Asp)
c.1295T>A (p.Val432Asp)
c.1070T>A (p.Val357Asp)
c.1262T>A (p.Val421Asp)
c.1010T>A (p.Val337Asp)
c.998T>A (p.Val333Asp)
15g.42777164C>ACA392015662TTBK2c.1276G>T (p.Val426Phe)
c.1171G>T (p.Val391Phe)
c.2491G>T (p.Val831Phe)
c.1294G>T (p.Val432Phe)
c.1069G>T (p.Val357Phe)
c.1261G>T (p.Val421Phe)
c.1009G>T (p.Val337Phe)
c.997G>T (p.Val333Phe)
15g.42777164C=CA2172895347TTBK2c.1276G= (p.Val426=)
c.1171G= (p.Val391=)
c.2491G= (p.Val831=)
c.1294G= (p.Val432=)
c.1069G= (p.Val357=)
c.1261G= (p.Val421=)
c.1009G= (p.Val337=)
c.997G= (p.Val333=)
15g.42777164C>GCA392015664TTBK2c.1276G>C (p.Val426Leu)
c.1171G>C (p.Val391Leu)
c.2491G>C (p.Val831Leu)
c.1294G>C (p.Val432Leu)
c.1069G>C (p.Val357Leu)
c.1261G>C (p.Val421Leu)
c.1009G>C (p.Val337Leu)
c.997G>C (p.Val333Leu)
 dbSNP gnomAD v2
15g.42777164C>TCA392015667TTBK2c.1276G>A (p.Val426Ile)
c.1171G>A (p.Val391Ile)
c.2491G>A (p.Val831Ile)
c.1294G>A (p.Val432Ile)
c.1069G>A (p.Val357Ile)
c.1261G>A (p.Val421Ile)
c.1009G>A (p.Val337Ile)
c.997G>A (p.Val333Ile)
 dbSNP gnomAD v3 gnomAD v4
15g.42777165A>CCA489893000TTBK2c.1275T>G (p.Arg425=)
c.1170T>G (p.Arg390=)
c.2490T>G (p.Arg830=)
c.1293T>G (p.Arg431=)
c.1068T>G (p.Arg356=)
c.1260T>G (p.Arg420=)
c.1008T>G (p.Arg336=)
c.996T>G (p.Arg332=)
 gnomAD v4
15g.42777165A>GCA489893001TTBK2c.1275T>C (p.Arg425=)
c.1170T>C (p.Arg390=)
c.2490T>C (p.Arg830=)
c.1293T>C (p.Arg431=)
c.1068T>C (p.Arg356=)
c.1260T>C (p.Arg420=)
c.1008T>C (p.Arg336=)
c.996T>C (p.Arg332=)
15g.42777165A>TCA489893002TTBK2c.1275T>A (p.Arg425=)
c.1170T>A (p.Arg390=)
c.2490T>A (p.Arg830=)
c.1293T>A (p.Arg431=)
c.1068T>A (p.Arg356=)
c.1260T>A (p.Arg420=)
c.1008T>A (p.Arg336=)
c.996T>A (p.Arg332=)
15g.42777166C>ACA392015674TTBK2c.1274G>T (p.Arg425Leu)
c.1169G>T (p.Arg390Leu)
c.2489G>T (p.Arg830Leu)
c.1292G>T (p.Arg431Leu)
c.1067G>T (p.Arg356Leu)
c.1259G>T (p.Arg420Leu)
c.1007G>T (p.Arg336Leu)
c.995G>T (p.Arg332Leu)
 dbSNP
15g.42777166C=CA2172895351TTBK2c.1274G= (p.Arg425=)
c.1169G= (p.Arg390=)
c.2489G= (p.Arg830=)
c.1292G= (p.Arg431=)
c.1067G= (p.Arg356=)
c.1259G= (p.Arg420=)
c.1007G= (p.Arg336=)
c.995G= (p.Arg332=)
15g.42777166C>GCA392015678TTBK2c.1274G>C (p.Arg425Pro)
c.1169G>C (p.Arg390Pro)
c.2489G>C (p.Arg830Pro)
c.1292G>C (p.Arg431Pro)
c.1067G>C (p.Arg356Pro)
c.1259G>C (p.Arg420Pro)
c.1007G>C (p.Arg336Pro)
c.995G>C (p.Arg332Pro)
15g.42777166C>TCA7516922TTBK2c.1274G>A (p.Arg425His)
c.1169G>A (p.Arg390His)
c.2489G>A (p.Arg830His)
c.1292G>A (p.Arg431His)
c.1067G>A (p.Arg356His)
c.1259G>A (p.Arg420His)
c.1007G>A (p.Arg336His)
c.995G>A (p.Arg332His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777167G>ACA392015685TTBK2c.1273C>T (p.Arg425Cys)
c.1168C>T (p.Arg390Cys)
c.2488C>T (p.Arg830Cys)
c.1291C>T (p.Arg431Cys)
c.1066C>T (p.Arg356Cys)
c.1258C>T (p.Arg420Cys)
c.1006C>T (p.Arg336Cys)
c.994C>T (p.Arg332Cys)
 dbSNP gnomAD v2 gnomAD v4
15g.42777167G>CCA392015688TTBK2c.1273C>G (p.Arg425Gly)
c.1168C>G (p.Arg390Gly)
c.2488C>G (p.Arg830Gly)
c.1291C>G (p.Arg431Gly)
c.1066C>G (p.Arg356Gly)
c.1258C>G (p.Arg420Gly)
c.1006C>G (p.Arg336Gly)
c.994C>G (p.Arg332Gly)
 gnomAD v4
15g.42777167G=CA2172895355TTBK2c.1273C= (p.Arg425=)
c.1168C= (p.Arg390=)
c.2488C= (p.Arg830=)
c.1291C= (p.Arg431=)
c.1066C= (p.Arg356=)
c.1258C= (p.Arg420=)
c.1006C= (p.Arg336=)
c.994C= (p.Arg332=)
15g.42777167G>TCA392015691TTBK2c.1273C>A (p.Arg425Ser)
c.1168C>A (p.Arg390Ser)
c.2488C>A (p.Arg830Ser)
c.1291C>A (p.Arg431Ser)
c.1066C>A (p.Arg356Ser)
c.1258C>A (p.Arg420Ser)
c.1006C>A (p.Arg336Ser)
c.994C>A (p.Arg332Ser)
 gnomAD v4
15g.42777168A>CCA392015699TTBK2c.1272T>G (p.Ile424Met)
c.1167T>G (p.Ile389Met)
c.2487T>G (p.Ile829Met)
c.1290T>G (p.Ile430Met)
c.1065T>G (p.Ile355Met)
c.1257T>G (p.Ile419Met)
c.1005T>G (p.Ile335Met)
c.993T>G (p.Ile331Met)
15g.42777168A>GCA489893003TTBK2c.1272T>C (p.Ile424=)
c.1167T>C (p.Ile389=)
c.2487T>C (p.Ile829=)
c.1290T>C (p.Ile430=)
c.1065T>C (p.Ile355=)
c.1257T>C (p.Ile419=)
c.1005T>C (p.Ile335=)
c.993T>C (p.Ile331=)
15g.42777168A>TCA489893004TTBK2c.1272T>A (p.Ile424=)
c.1167T>A (p.Ile389=)
c.2487T>A (p.Ile829=)
c.1290T>A (p.Ile430=)
c.1065T>A (p.Ile355=)
c.1257T>A (p.Ile419=)
c.1005T>A (p.Ile335=)
c.993T>A (p.Ile331=)
15g.42777169A=CA2172895357TTBK2c.1271T= (p.Ile424=)
c.1166T= (p.Ile389=)
c.2486T= (p.Ile829=)
c.1289T= (p.Ile430=)
c.1064T= (p.Ile355=)
c.1256T= (p.Ile419=)
c.1004T= (p.Ile335=)
c.992T= (p.Ile331=)
15g.42777169A>CCA392015702TTBK2c.1271T>G (p.Ile424Ser)
c.1166T>G (p.Ile389Ser)
c.2486T>G (p.Ile829Ser)
c.1289T>G (p.Ile430Ser)
c.1064T>G (p.Ile355Ser)
c.1256T>G (p.Ile419Ser)
c.1004T>G (p.Ile335Ser)
c.992T>G (p.Ile331Ser)
15g.42777169A>GCA392015709TTBK2c.1271T>C (p.Ile424Thr)
c.1166T>C (p.Ile389Thr)
c.2486T>C (p.Ile829Thr)
c.1289T>C (p.Ile430Thr)
c.1064T>C (p.Ile355Thr)
c.1256T>C (p.Ile419Thr)
c.1004T>C (p.Ile335Thr)
c.992T>C (p.Ile331Thr)
 ClinVar dbSNP gnomAD v4
15g.42777169A>TCA392015705TTBK2c.1271T>A (p.Ile424Asn)
c.1166T>A (p.Ile389Asn)
c.2486T>A (p.Ile829Asn)
c.1289T>A (p.Ile430Asn)
c.1064T>A (p.Ile355Asn)
c.1256T>A (p.Ile419Asn)
c.1004T>A (p.Ile335Asn)
c.992T>A (p.Ile331Asn)
15g.42777170T>ACA392015715TTBK2c.1270A>T (p.Ile424Phe)
c.1165A>T (p.Ile389Phe)
c.2485A>T (p.Ile829Phe)
c.1288A>T (p.Ile430Phe)
c.1063A>T (p.Ile355Phe)
c.1255A>T (p.Ile419Phe)
c.1003A>T (p.Ile335Phe)
c.991A>T (p.Ile331Phe)
15g.42777170T>CCA392015718TTBK2c.1270A>G (p.Ile424Val)
c.1165A>G (p.Ile389Val)
c.2485A>G (p.Ile829Val)
c.1288A>G (p.Ile430Val)
c.1063A>G (p.Ile355Val)
c.1255A>G (p.Ile419Val)
c.1003A>G (p.Ile335Val)
c.991A>G (p.Ile331Val)
 gnomAD v3 gnomAD v4
15g.42777170T>GCA392015722TTBK2c.1270A>C (p.Ile424Leu)
c.1165A>C (p.Ile389Leu)
c.2485A>C (p.Ile829Leu)
c.1288A>C (p.Ile430Leu)
c.1063A>C (p.Ile355Leu)
c.1255A>C (p.Ile419Leu)
c.1003A>C (p.Ile335Leu)
c.991A>C (p.Ile331Leu)
15g.42777171T>ACA489893005TTBK2c.1269A>T (p.Pro423=)
c.1164A>T (p.Pro388=)
c.2484A>T (p.Pro828=)
c.1287A>T (p.Pro429=)
c.1062A>T (p.Pro354=)
c.1254A>T (p.Pro418=)
c.1002A>T (p.Pro334=)
c.990A>T (p.Pro330=)
15g.42777171T>CCA489893006TTBK2c.1269A>G (p.Pro423=)
c.1164A>G (p.Pro388=)
c.2484A>G (p.Pro828=)
c.1287A>G (p.Pro429=)
c.1062A>G (p.Pro354=)
c.1254A>G (p.Pro418=)
c.1002A>G (p.Pro334=)
c.990A>G (p.Pro330=)
15g.42777171T>GCA489893007TTBK2c.1269A>C (p.Pro423=)
c.1164A>C (p.Pro388=)
c.2484A>C (p.Pro828=)
c.1287A>C (p.Pro429=)
c.1062A>C (p.Pro354=)
c.1254A>C (p.Pro418=)
c.1002A>C (p.Pro334=)
c.990A>C (p.Pro330=)
15g.42777172G>ACA392015727TTBK2c.1268C>T (p.Pro423Leu)
c.1163C>T (p.Pro388Leu)
c.2483C>T (p.Pro828Leu)
c.1286C>T (p.Pro429Leu)
c.1061C>T (p.Pro354Leu)
c.1253C>T (p.Pro418Leu)
c.1001C>T (p.Pro334Leu)
c.989C>T (p.Pro330Leu)
 dbSNP gnomAD v4
15g.42777172G>CCA392015731TTBK2c.1268C>G (p.Pro423Arg)
c.1163C>G (p.Pro388Arg)
c.2483C>G (p.Pro828Arg)
c.1286C>G (p.Pro429Arg)
c.1061C>G (p.Pro354Arg)
c.1253C>G (p.Pro418Arg)
c.1001C>G (p.Pro334Arg)
c.989C>G (p.Pro330Arg)
15g.42777172G>TCA392015735TTBK2c.1268C>A (p.Pro423Gln)
c.1163C>A (p.Pro388Gln)
c.2483C>A (p.Pro828Gln)
c.1286C>A (p.Pro429Gln)
c.1061C>A (p.Pro354Gln)
c.1253C>A (p.Pro418Gln)
c.1001C>A (p.Pro334Gln)
c.989C>A (p.Pro330Gln)
15g.42777173G>ACA392015739TTBK2c.1267C>T (p.Pro423Ser)
c.1162C>T (p.Pro388Ser)
c.2482C>T (p.Pro828Ser)
c.1285C>T (p.Pro429Ser)
c.1060C>T (p.Pro354Ser)
c.1252C>T (p.Pro418Ser)
c.1000C>T (p.Pro334Ser)
c.988C>T (p.Pro330Ser)
 dbSNP
15g.42777173G>CCA392015743TTBK2c.1267C>G (p.Pro423Ala)
c.1162C>G (p.Pro388Ala)
c.2482C>G (p.Pro828Ala)
c.1285C>G (p.Pro429Ala)
c.1060C>G (p.Pro354Ala)
c.1252C>G (p.Pro418Ala)
c.1000C>G (p.Pro334Ala)
c.988C>G (p.Pro330Ala)
15g.42777173G>TCA392015756TTBK2c.1267C>A (p.Pro423Thr)
c.1162C>A (p.Pro388Thr)
c.2482C>A (p.Pro828Thr)
c.1285C>A (p.Pro429Thr)
c.1060C>A (p.Pro354Thr)
c.1252C>A (p.Pro418Thr)
c.1000C>A (p.Pro334Thr)
c.988C>A (p.Pro330Thr)
15g.42777174T>ACA489893009TTBK2c.1266A>T (p.Ser422=)
c.1161A>T (p.Ser387=)
c.2481A>T (p.Ser827=)
c.1284A>T (p.Ser428=)
c.1059A>T (p.Ser353=)
c.1251A>T (p.Ser417=)
c.999A>T (p.Ser333=)
c.987A>T (p.Ser329=)
15g.42777174T>CCA7516923TTBK2c.1266A>G (p.Ser422=)
c.1161A>G (p.Ser387=)
c.2481A>G (p.Ser827=)
c.1284A>G (p.Ser428=)
c.1059A>G (p.Ser353=)
c.1251A>G (p.Ser417=)
c.999A>G (p.Ser333=)
c.987A>G (p.Ser329=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777174T>GCA489893008TTBK2c.1266A>C (p.Ser422=)
c.1161A>C (p.Ser387=)
c.2481A>C (p.Ser827=)
c.1284A>C (p.Ser428=)
c.1059A>C (p.Ser353=)
c.1251A>C (p.Ser417=)
c.999A>C (p.Ser333=)
c.987A>C (p.Ser329=)
 gnomAD v4
15g.42777174T=CA2172895360TTBK2c.1266A= (p.Ser422=)
c.1161A= (p.Ser387=)
c.2481A= (p.Ser827=)
c.1284A= (p.Ser428=)
c.1059A= (p.Ser353=)
c.1251A= (p.Ser417=)
c.999A= (p.Ser333=)
c.987A= (p.Ser329=)
15g.42777175G>ACA392015766TTBK2c.1265C>T (p.Ser422Leu)
c.1160C>T (p.Ser387Leu)
c.2480C>T (p.Ser827Leu)
c.1283C>T (p.Ser428Leu)
c.1058C>T (p.Ser353Leu)
c.1250C>T (p.Ser417Leu)
c.998C>T (p.Ser333Leu)
c.986C>T (p.Ser329Leu)
15g.42777175G>CCA392015768TTBK2c.1265C>G (p.Ser422Ter)
c.1160C>G (p.Ser387Ter)
c.2480C>G (p.Ser827Ter)
c.1283C>G (p.Ser428Ter)
c.1058C>G (p.Ser353Ter)
c.1250C>G (p.Ser417Ter)
c.998C>G (p.Ser333Ter)
c.986C>G (p.Ser329Ter)
15g.42777175G>TCA392015771TTBK2c.1265C>A (p.Ser422Ter)
c.1160C>A (p.Ser387Ter)
c.2480C>A (p.Ser827Ter)
c.1283C>A (p.Ser428Ter)
c.1058C>A (p.Ser353Ter)
c.1250C>A (p.Ser417Ter)
c.998C>A (p.Ser333Ter)
c.986C>A (p.Ser329Ter)
15g.42777176A>CCA392015783TTBK2c.1264T>G (p.Ser422Ala)
c.1159T>G (p.Ser387Ala)
c.2479T>G (p.Ser827Ala)
c.1282T>G (p.Ser428Ala)
c.1057T>G (p.Ser353Ala)
c.1249T>G (p.Ser417Ala)
c.997T>G (p.Ser333Ala)
c.985T>G (p.Ser329Ala)
15g.42777176A>GCA392015777TTBK2c.1264T>C (p.Ser422Pro)
c.1159T>C (p.Ser387Pro)
c.2479T>C (p.Ser827Pro)
c.1282T>C (p.Ser428Pro)
c.1057T>C (p.Ser353Pro)
c.1249T>C (p.Ser417Pro)
c.997T>C (p.Ser333Pro)
c.985T>C (p.Ser329Pro)
15g.42777176A>TCA392015779TTBK2c.1264T>A (p.Ser422Thr)
c.1159T>A (p.Ser387Thr)
c.2479T>A (p.Ser827Thr)
c.1282T>A (p.Ser428Thr)
c.1057T>A (p.Ser353Thr)
c.1249T>A (p.Ser417Thr)
c.997T>A (p.Ser333Thr)
c.985T>A (p.Ser329Thr)
15g.42777177C>ACA489893010TTBK2c.1263G>T (p.Gly421=)
c.1158G>T (p.Gly386=)
c.2478G>T (p.Gly826=)
c.1281G>T (p.Gly427=)
c.1056G>T (p.Gly352=)
c.1248G>T (p.Gly416=)
c.996G>T (p.Gly332=)
c.984G>T (p.Gly328=)
15g.42777177C=CA2172895364TTBK2c.1263G= (p.Gly421=)
c.1158G= (p.Gly386=)
c.2478G= (p.Gly826=)
c.1281G= (p.Gly427=)
c.1056G= (p.Gly352=)
c.1248G= (p.Gly416=)
c.996G= (p.Gly332=)
c.984G= (p.Gly328=)
15g.42777177C>GCA489893011TTBK2c.1263G>C (p.Gly421=)
c.1158G>C (p.Gly386=)
c.2478G>C (p.Gly826=)
c.1281G>C (p.Gly427=)
c.1056G>C (p.Gly352=)
c.1248G>C (p.Gly416=)
c.996G>C (p.Gly332=)
c.984G>C (p.Gly328=)
15g.42777177C>TCA7516924TTBK2c.1263G>A (p.Gly421=)
c.1158G>A (p.Gly386=)
c.2478G>A (p.Gly826=)
c.1281G>A (p.Gly427=)
c.1056G>A (p.Gly352=)
c.1248G>A (p.Gly416=)
c.996G>A (p.Gly332=)
c.984G>A (p.Gly328=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777178C>ACA392015794TTBK2c.1262G>T (p.Gly421Val)
c.1157G>T (p.Gly386Val)
c.2477G>T (p.Gly826Val)
c.1280G>T (p.Gly427Val)
c.1055G>T (p.Gly352Val)
c.1247G>T (p.Gly416Val)
c.995G>T (p.Gly332Val)
c.983G>T (p.Gly328Val)
 gnomAD v4
15g.42777178C=CA2172895366TTBK2c.1262G= (p.Gly421=)
c.1157G= (p.Gly386=)
c.2477G= (p.Gly826=)
c.1280G= (p.Gly427=)
c.1055G= (p.Gly352=)
c.1247G= (p.Gly416=)
c.995G= (p.Gly332=)
c.983G= (p.Gly328=)
15g.42777178C>GCA392015798TTBK2c.1262G>C (p.Gly421Ala)
c.1157G>C (p.Gly386Ala)
c.2477G>C (p.Gly826Ala)
c.1280G>C (p.Gly427Ala)
c.1055G>C (p.Gly352Ala)
c.1247G>C (p.Gly416Ala)
c.995G>C (p.Gly332Ala)
c.983G>C (p.Gly328Ala)
 dbSNP gnomAD v3 gnomAD v4
15g.42777178C>TCA392015802TTBK2c.1262G>A (p.Gly421Glu)
c.1157G>A (p.Gly386Glu)
c.2477G>A (p.Gly826Glu)
c.1280G>A (p.Gly427Glu)
c.1055G>A (p.Gly352Glu)
c.1247G>A (p.Gly416Glu)
c.995G>A (p.Gly332Glu)
c.983G>A (p.Gly328Glu)
15g.42777179C>ACA392015805TTBK2c.1261G>T (p.Gly421Trp)
c.1156G>T (p.Gly386Trp)
c.2476G>T (p.Gly826Trp)
c.1279G>T (p.Gly427Trp)
c.1054G>T (p.Gly352Trp)
c.1246G>T (p.Gly416Trp)
c.994G>T (p.Gly332Trp)
c.982G>T (p.Gly328Trp)
15g.42777179C=CA2172895373TTBK2c.1261G= (p.Gly421=)
c.1156G= (p.Gly386=)
c.2476G= (p.Gly826=)
c.1279G= (p.Gly427=)
c.1054G= (p.Gly352=)
c.1246G= (p.Gly416=)
c.994G= (p.Gly332=)
c.982G= (p.Gly328=)
15g.42777179C>GCA392015808TTBK2c.1261G>C (p.Gly421Arg)
c.1156G>C (p.Gly386Arg)
c.2476G>C (p.Gly826Arg)
c.1279G>C (p.Gly427Arg)
c.1054G>C (p.Gly352Arg)
c.1246G>C (p.Gly416Arg)
c.994G>C (p.Gly332Arg)
c.982G>C (p.Gly328Arg)
15g.42777179C>TCA392015812TTBK2c.1261G>A (p.Gly421Arg)
c.1156G>A (p.Gly386Arg)
c.2476G>A (p.Gly826Arg)
c.1279G>A (p.Gly427Arg)
c.1054G>A (p.Gly352Arg)
c.1246G>A (p.Gly416Arg)
c.994G>A (p.Gly332Arg)
c.982G>A (p.Gly328Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.42777180A>CCA489893012TTBK2c.1260T>G (p.Leu420=)
c.1155T>G (p.Leu385=)
c.2475T>G (p.Leu825=)
c.1278T>G (p.Leu426=)
c.1053T>G (p.Leu351=)
c.1245T>G (p.Leu415=)
c.993T>G (p.Leu331=)
c.981T>G (p.Leu327=)
15g.42777180A>GCA489893013TTBK2c.1260T>C (p.Leu420=)
c.1155T>C (p.Leu385=)
c.2475T>C (p.Leu825=)
c.1278T>C (p.Leu426=)
c.1053T>C (p.Leu351=)
c.1245T>C (p.Leu415=)
c.993T>C (p.Leu331=)
c.981T>C (p.Leu327=)
15g.42777180A>TCA489893014TTBK2c.1260T>A (p.Leu420=)
c.1155T>A (p.Leu385=)
c.2475T>A (p.Leu825=)
c.1278T>A (p.Leu426=)
c.1053T>A (p.Leu351=)
c.1245T>A (p.Leu415=)
c.993T>A (p.Leu331=)
c.981T>A (p.Leu327=)
15g.42777181A=CA2172895379TTBK2c.1259T= (p.Leu420=)
c.1154T= (p.Leu385=)
c.2474T= (p.Leu825=)
c.1277T= (p.Leu426=)
c.1052T= (p.Leu351=)
c.1244T= (p.Leu415=)
c.992T= (p.Leu331=)
c.980T= (p.Leu327=)
15g.42777181A>CCA392015818TTBK2c.1259T>G (p.Leu420Arg)
c.1154T>G (p.Leu385Arg)
c.2474T>G (p.Leu825Arg)
c.1277T>G (p.Leu426Arg)
c.1052T>G (p.Leu351Arg)
c.1244T>G (p.Leu415Arg)
c.992T>G (p.Leu331Arg)
c.980T>G (p.Leu327Arg)
 COSMIC
15g.42777181A>GCA269888957TTBK2c.1259T>C (p.Leu420Pro)
c.1154T>C (p.Leu385Pro)
c.2474T>C (p.Leu825Pro)
c.1277T>C (p.Leu426Pro)
c.1052T>C (p.Leu351Pro)
c.1244T>C (p.Leu415Pro)
c.992T>C (p.Leu331Pro)
c.980T>C (p.Leu327Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42777181A>TCA392015825TTBK2c.1259T>A (p.Leu420His)
c.1154T>A (p.Leu385His)
c.2474T>A (p.Leu825His)
c.1277T>A (p.Leu426His)
c.1052T>A (p.Leu351His)
c.1244T>A (p.Leu415His)
c.992T>A (p.Leu331His)
c.980T>A (p.Leu327His)
15g.42777182G>ACA392015831TTBK2c.1258C>T (p.Leu420Phe)
c.1153C>T (p.Leu385Phe)
c.2473C>T (p.Leu825Phe)
c.1276C>T (p.Leu426Phe)
c.1051C>T (p.Leu351Phe)
c.1243C>T (p.Leu415Phe)
c.991C>T (p.Leu331Phe)
c.979C>T (p.Leu327Phe)
 dbSNP gnomAD v4
15g.42777182G>CCA392015835TTBK2c.1258C>G (p.Leu420Val)
c.1153C>G (p.Leu385Val)
c.2473C>G (p.Leu825Val)
c.1276C>G (p.Leu426Val)
c.1051C>G (p.Leu351Val)
c.1243C>G (p.Leu415Val)
c.991C>G (p.Leu331Val)
c.979C>G (p.Leu327Val)
15g.42777182G=CA2172895381TTBK2c.1258C= (p.Leu420=)
c.1153C= (p.Leu385=)
c.2473C= (p.Leu825=)
c.1276C= (p.Leu426=)
c.1051C= (p.Leu351=)
c.1243C= (p.Leu415=)
c.991C= (p.Leu331=)
c.979C= (p.Leu327=)
15g.42777182G>TCA392015839TTBK2c.1258C>A (p.Leu420Ile)
c.1153C>A (p.Leu385Ile)
c.2473C>A (p.Leu825Ile)
c.1276C>A (p.Leu426Ile)
c.1051C>A (p.Leu351Ile)
c.1243C>A (p.Leu415Ile)
c.991C>A (p.Leu331Ile)
c.979C>A (p.Leu327Ile)
15g.42777183G>ACA489893015TTBK2c.1257C>T (p.Ser419=)
c.1152C>T (p.Ser384=)
c.2472C>T (p.Ser824=)
c.1275C>T (p.Ser425=)
c.1050C>T (p.Ser350=)
c.1242C>T (p.Ser414=)
c.990C>T (p.Ser330=)
c.978C>T (p.Ser326=)
15g.42777183G>CCA392015844TTBK2c.1257C>G (p.Ser419Arg)
c.1152C>G (p.Ser384Arg)
c.2472C>G (p.Ser824Arg)
c.1275C>G (p.Ser425Arg)
c.1050C>G (p.Ser350Arg)
c.1242C>G (p.Ser414Arg)
c.990C>G (p.Ser330Arg)
c.978C>G (p.Ser326Arg)
15g.42777183G>TCA392015847TTBK2c.1257C>A (p.Ser419Arg)
c.1152C>A (p.Ser384Arg)
c.2472C>A (p.Ser824Arg)
c.1275C>A (p.Ser425Arg)
c.1050C>A (p.Ser350Arg)
c.1242C>A (p.Ser414Arg)
c.990C>A (p.Ser330Arg)
c.978C>A (p.Ser326Arg)
15g.42777184C>ACA392015853TTBK2c.1256G>T (p.Ser419Ile)
c.1151G>T (p.Ser384Ile)
c.2471G>T (p.Ser824Ile)
c.1274G>T (p.Ser425Ile)
c.1049G>T (p.Ser350Ile)
c.1241G>T (p.Ser414Ile)
c.989G>T (p.Ser330Ile)
c.977G>T (p.Ser326Ile)
15g.42777184C>GCA392015859TTBK2c.1256G>C (p.Ser419Thr)
c.1151G>C (p.Ser384Thr)
c.2471G>C (p.Ser824Thr)
c.1274G>C (p.Ser425Thr)
c.1049G>C (p.Ser350Thr)
c.1241G>C (p.Ser414Thr)
c.989G>C (p.Ser330Thr)
c.977G>C (p.Ser326Thr)
15g.42777184C>TCA392015857TTBK2c.1256G>A (p.Ser419Asn)
c.1151G>A (p.Ser384Asn)
c.2471G>A (p.Ser824Asn)
c.1274G>A (p.Ser425Asn)
c.1049G>A (p.Ser350Asn)
c.1241G>A (p.Ser414Asn)
c.989G>A (p.Ser330Asn)
c.977G>A (p.Ser326Asn)
15g.42777185T>ACA392015864TTBK2c.1255A>T (p.Ser419Cys)
c.1150A>T (p.Ser384Cys)
c.2470A>T (p.Ser824Cys)
c.1273A>T (p.Ser425Cys)
c.1048A>T (p.Ser350Cys)
c.1240A>T (p.Ser414Cys)
c.988A>T (p.Ser330Cys)
c.976A>T (p.Ser326Cys)
15g.42777185T>CCA392015868TTBK2c.1255A>G (p.Ser419Gly)
c.1150A>G (p.Ser384Gly)
c.2470A>G (p.Ser824Gly)
c.1273A>G (p.Ser425Gly)
c.1048A>G (p.Ser350Gly)
c.1240A>G (p.Ser414Gly)
c.988A>G (p.Ser330Gly)
c.976A>G (p.Ser326Gly)
15g.42777185T>GCA392015872TTBK2c.1255A>C (p.Ser419Arg)
c.1150A>C (p.Ser384Arg)
c.2470A>C (p.Ser824Arg)
c.1273A>C (p.Ser425Arg)
c.1048A>C (p.Ser350Arg)
c.1240A>C (p.Ser414Arg)
c.988A>C (p.Ser330Arg)
c.976A>C (p.Ser326Arg)
15g.42777186T>ACA489893016TTBK2c.1254A>T (p.Pro418=)
c.1149A>T (p.Pro383=)
c.2469A>T (p.Pro823=)
c.1272A>T (p.Pro424=)
c.1047A>T (p.Pro349=)
c.1239A>T (p.Pro413=)
c.987A>T (p.Pro329=)
c.975A>T (p.Pro325=)
15g.42777186T>CCA7516925TTBK2c.1254A>G (p.Pro418=)
c.1149A>G (p.Pro383=)
c.2469A>G (p.Pro823=)
c.1272A>G (p.Pro424=)
c.1047A>G (p.Pro349=)
c.1239A>G (p.Pro413=)
c.987A>G (p.Pro329=)
c.975A>G (p.Pro325=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777186T>GCA489893017TTBK2c.1254A>C (p.Pro418=)
c.1149A>C (p.Pro383=)
c.2469A>C (p.Pro823=)
c.1272A>C (p.Pro424=)
c.1047A>C (p.Pro349=)
c.1239A>C (p.Pro413=)
c.987A>C (p.Pro329=)
c.975A>C (p.Pro325=)
15g.42777186T=CA2172895385TTBK2c.1254A= (p.Pro418=)
c.1149A= (p.Pro383=)
c.2469A= (p.Pro823=)
c.1272A= (p.Pro424=)
c.1047A= (p.Pro349=)
c.1239A= (p.Pro413=)
c.987A= (p.Pro329=)
c.975A= (p.Pro325=)
15g.42777187G>ACA269888959TTBK2c.1253C>T (p.Pro418Leu)
c.1148C>T (p.Pro383Leu)
c.2468C>T (p.Pro823Leu)
c.1271C>T (p.Pro424Leu)
c.1046C>T (p.Pro349Leu)
c.1238C>T (p.Pro413Leu)
c.986C>T (p.Pro329Leu)
c.974C>T (p.Pro325Leu)
 dbSNP COSMIC
15g.42777187G>CCA392015885TTBK2c.1253C>G (p.Pro418Arg)
c.1148C>G (p.Pro383Arg)
c.2468C>G (p.Pro823Arg)
c.1271C>G (p.Pro424Arg)
c.1046C>G (p.Pro349Arg)
c.1238C>G (p.Pro413Arg)
c.986C>G (p.Pro329Arg)
c.974C>G (p.Pro325Arg)
15g.42777187G=CA2172895386TTBK2c.1253C= (p.Pro418=)
c.1148C= (p.Pro383=)
c.2468C= (p.Pro823=)
c.1271C= (p.Pro424=)
c.1046C= (p.Pro349=)
c.1238C= (p.Pro413=)
c.986C= (p.Pro329=)
c.974C= (p.Pro325=)
15g.42777187G>TCA392015887TTBK2c.1253C>A (p.Pro418Gln)
c.1148C>A (p.Pro383Gln)
c.2468C>A (p.Pro823Gln)
c.1271C>A (p.Pro424Gln)
c.1046C>A (p.Pro349Gln)
c.1238C>A (p.Pro413Gln)
c.986C>A (p.Pro329Gln)
c.974C>A (p.Pro325Gln)
15g.42777188G>ACA7516926TTBK2c.1252C>T (p.Pro418Ser)
c.1147C>T (p.Pro383Ser)
c.2467C>T (p.Pro823Ser)
c.1270C>T (p.Pro424Ser)
c.1045C>T (p.Pro349Ser)
c.1237C>T (p.Pro413Ser)
c.985C>T (p.Pro329Ser)
c.973C>T (p.Pro325Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777188G>CCA392015899TTBK2c.1252C>G (p.Pro418Ala)
c.1147C>G (p.Pro383Ala)
c.2467C>G (p.Pro823Ala)
c.1270C>G (p.Pro424Ala)
c.1045C>G (p.Pro349Ala)
c.1237C>G (p.Pro413Ala)
c.985C>G (p.Pro329Ala)
c.973C>G (p.Pro325Ala)
15g.42777188G=CA2172895391TTBK2c.1252C= (p.Pro418=)
c.1147C= (p.Pro383=)
c.2467C= (p.Pro823=)
c.1270C= (p.Pro424=)
c.1045C= (p.Pro349=)
c.1237C= (p.Pro413=)
c.985C= (p.Pro329=)
c.973C= (p.Pro325=)
15g.42777188G>TCA7516927TTBK2c.1252C>A (p.Pro418Thr)
c.1147C>A (p.Pro383Thr)
c.2467C>A (p.Pro823Thr)
c.1270C>A (p.Pro424Thr)
c.1045C>A (p.Pro349Thr)
c.1237C>A (p.Pro413Thr)
c.985C>A (p.Pro329Thr)
c.973C>A (p.Pro325Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777189A>CCA489893018TTBK2c.1251T>G (p.Ala417=)
c.1146T>G (p.Ala382=)
c.2466T>G (p.Ala822=)
c.1269T>G (p.Ala423=)
c.1044T>G (p.Ala348=)
c.1236T>G (p.Ala412=)
c.984T>G (p.Ala328=)
c.972T>G (p.Ala324=)
15g.42777189A>GCA489893019TTBK2c.1251T>C (p.Ala417=)
c.1146T>C (p.Ala382=)
c.2466T>C (p.Ala822=)
c.1269T>C (p.Ala423=)
c.1044T>C (p.Ala348=)
c.1236T>C (p.Ala412=)
c.984T>C (p.Ala328=)
c.972T>C (p.Ala324=)
15g.42777189A>TCA489893020TTBK2c.1251T>A (p.Ala417=)
c.1146T>A (p.Ala382=)
c.2466T>A (p.Ala822=)
c.1269T>A (p.Ala423=)
c.1044T>A (p.Ala348=)
c.1236T>A (p.Ala412=)
c.984T>A (p.Ala328=)
c.972T>A (p.Ala324=)
15g.42777190G>ACA392015909TTBK2c.1250C>T (p.Ala417Val)
c.1145C>T (p.Ala382Val)
c.2465C>T (p.Ala822Val)
c.1268C>T (p.Ala423Val)
c.1043C>T (p.Ala348Val)
c.1235C>T (p.Ala412Val)
c.983C>T (p.Ala328Val)
c.971C>T (p.Ala324Val)
 dbSNP gnomAD v4
15g.42777190G>CCA392015914TTBK2c.1250C>G (p.Ala417Gly)
c.1145C>G (p.Ala382Gly)
c.2465C>G (p.Ala822Gly)
c.1268C>G (p.Ala423Gly)
c.1043C>G (p.Ala348Gly)
c.1235C>G (p.Ala412Gly)
c.983C>G (p.Ala328Gly)
c.971C>G (p.Ala324Gly)
15g.42777190G=CA2172895395TTBK2c.1250C= (p.Ala417=)
c.1145C= (p.Ala382=)
c.2465C= (p.Ala822=)
c.1268C= (p.Ala423=)
c.1043C= (p.Ala348=)
c.1235C= (p.Ala412=)
c.983C= (p.Ala328=)
c.971C= (p.Ala324=)
15g.42777190G>TCA392015916TTBK2c.1250C>A (p.Ala417Asp)
c.1145C>A (p.Ala382Asp)
c.2465C>A (p.Ala822Asp)
c.1268C>A (p.Ala423Asp)
c.1043C>A (p.Ala348Asp)
c.1235C>A (p.Ala412Asp)
c.983C>A (p.Ala328Asp)
c.971C>A (p.Ala324Asp)
15g.42777191C>ACA392015922TTBK2c.1249G>T (p.Ala417Ser)
c.1144G>T (p.Ala382Ser)
c.2464G>T (p.Ala822Ser)
c.1267G>T (p.Ala423Ser)
c.1042G>T (p.Ala348Ser)
c.1234G>T (p.Ala412Ser)
c.982G>T (p.Ala328Ser)
c.970G>T (p.Ala324Ser)
15g.42777191C>GCA392015945TTBK2c.1249G>C (p.Ala417Pro)
c.1144G>C (p.Ala382Pro)
c.2464G>C (p.Ala822Pro)
c.1267G>C (p.Ala423Pro)
c.1042G>C (p.Ala348Pro)
c.1234G>C (p.Ala412Pro)
c.982G>C (p.Ala328Pro)
c.970G>C (p.Ala324Pro)
15g.42777191C>TCA392015944TTBK2c.1249G>A (p.Ala417Thr)
c.1144G>A (p.Ala382Thr)
c.2464G>A (p.Ala822Thr)
c.1267G>A (p.Ala423Thr)
c.1042G>A (p.Ala348Thr)
c.1234G>A (p.Ala412Thr)
c.982G>A (p.Ala328Thr)
c.970G>A (p.Ala324Thr)
 gnomAD v4
15g.42777192A>CCA392015950TTBK2c.1248T>G (p.Asn416Lys)
c.1143T>G (p.Asn381Lys)
c.2463T>G (p.Asn821Lys)
c.1266T>G (p.Asn422Lys)
c.1041T>G (p.Asn347Lys)
c.1233T>G (p.Asn411Lys)
c.981T>G (p.Asn327Lys)
c.969T>G (p.Asn323Lys)
15g.42777192A>GCA489893021TTBK2c.1248T>C (p.Asn416=)
c.1143T>C (p.Asn381=)
c.2463T>C (p.Asn821=)
c.1266T>C (p.Asn422=)
c.1041T>C (p.Asn347=)
c.1233T>C (p.Asn411=)
c.981T>C (p.Asn327=)
c.969T>C (p.Asn323=)
15g.42777192A>TCA392015954TTBK2c.1248T>A (p.Asn416Lys)
c.1143T>A (p.Asn381Lys)
c.2463T>A (p.Asn821Lys)
c.1266T>A (p.Asn422Lys)
c.1041T>A (p.Asn347Lys)
c.1233T>A (p.Asn411Lys)
c.981T>A (p.Asn327Lys)
c.969T>A (p.Asn323Lys)
15g.42777193T>ACA392015956TTBK2c.1247A>T (p.Asn416Ile)
c.1142A>T (p.Asn381Ile)
c.2462A>T (p.Asn821Ile)
c.1265A>T (p.Asn422Ile)
c.1040A>T (p.Asn347Ile)
c.1232A>T (p.Asn411Ile)
c.980A>T (p.Asn327Ile)
c.968A>T (p.Asn323Ile)
15g.42777193T>CCA7516928TTBK2c.1247A>G (p.Asn416Ser)
c.1142A>G (p.Asn381Ser)
c.2462A>G (p.Asn821Ser)
c.1265A>G (p.Asn422Ser)
c.1040A>G (p.Asn347Ser)
c.1232A>G (p.Asn411Ser)
c.980A>G (p.Asn327Ser)
c.968A>G (p.Asn323Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777193T>GCA392015972TTBK2c.1247A>C (p.Asn416Thr)
c.1142A>C (p.Asn381Thr)
c.2462A>C (p.Asn821Thr)
c.1265A>C (p.Asn422Thr)
c.1040A>C (p.Asn347Thr)
c.1232A>C (p.Asn411Thr)
c.980A>C (p.Asn327Thr)
c.968A>C (p.Asn323Thr)
15g.42777193T=CA2172895404TTBK2c.1247A= (p.Asn416=)
c.1142A= (p.Asn381=)
c.2462A= (p.Asn821=)
c.1265A= (p.Asn422=)
c.1040A= (p.Asn347=)
c.1232A= (p.Asn411=)
c.980A= (p.Asn327=)
c.968A= (p.Asn323=)
15g.42777194T>ACA392015979TTBK2c.1246A>T (p.Asn416Tyr)
c.1141A>T (p.Asn381Tyr)
c.2461A>T (p.Asn821Tyr)
c.1264A>T (p.Asn422Tyr)
c.1039A>T (p.Asn347Tyr)
c.1231A>T (p.Asn411Tyr)
c.979A>T (p.Asn327Tyr)
c.967A>T (p.Asn323Tyr)
15g.42777194T>CCA7516929TTBK2c.1246A>G (p.Asn416Asp)
c.1141A>G (p.Asn381Asp)
c.2461A>G (p.Asn821Asp)
c.1264A>G (p.Asn422Asp)
c.1039A>G (p.Asn347Asp)
c.1231A>G (p.Asn411Asp)
c.979A>G (p.Asn327Asp)
c.967A>G (p.Asn323Asp)
 dbSNP ExAC gnomAD v2
15g.42777194T>GCA392015984TTBK2c.1246A>C (p.Asn416His)
c.1141A>C (p.Asn381His)
c.2461A>C (p.Asn821His)
c.1264A>C (p.Asn422His)
c.1039A>C (p.Asn347His)
c.1231A>C (p.Asn411His)
c.979A>C (p.Asn327His)
c.967A>C (p.Asn323His)
 dbSNP
15g.42777194T=CA2172895408TTBK2c.1246A= (p.Asn416=)
c.1141A= (p.Asn381=)
c.2461A= (p.Asn821=)
c.1264A= (p.Asn422=)
c.1039A= (p.Asn347=)
c.1231A= (p.Asn411=)
c.979A= (p.Asn327=)
c.967A= (p.Asn323=)
15g.42777195G>ACA489893024TTBK2c.1245C>T (p.Leu415=)
c.1140C>T (p.Leu380=)
c.2460C>T (p.Leu820=)
c.1263C>T (p.Leu421=)
c.1038C>T (p.Leu346=)
c.1230C>T (p.Leu410=)
c.978C>T (p.Leu326=)
c.966C>T (p.Leu322=)
15g.42777195G>CCA489893022TTBK2c.1245C>G (p.Leu415=)
c.1140C>G (p.Leu380=)
c.2460C>G (p.Leu820=)
c.1263C>G (p.Leu421=)
c.1038C>G (p.Leu346=)
c.1230C>G (p.Leu410=)
c.978C>G (p.Leu326=)
c.966C>G (p.Leu322=)
15g.42777195G>TCA489893023TTBK2c.1245C>A (p.Leu415=)
c.1140C>A (p.Leu380=)
c.2460C>A (p.Leu820=)
c.1263C>A (p.Leu421=)
c.1038C>A (p.Leu346=)
c.1230C>A (p.Leu410=)
c.978C>A (p.Leu326=)
c.966C>A (p.Leu322=)
15g.42777196A>CCA392015989TTBK2c.1244T>G (p.Leu415Arg)
c.1139T>G (p.Leu380Arg)
c.2459T>G (p.Leu820Arg)
c.1262T>G (p.Leu421Arg)
c.1037T>G (p.Leu346Arg)
c.1229T>G (p.Leu410Arg)
c.977T>G (p.Leu326Arg)
c.965T>G (p.Leu322Arg)
15g.42777196A>GCA392015992TTBK2c.1244T>C (p.Leu415Pro)
c.1139T>C (p.Leu380Pro)
c.2459T>C (p.Leu820Pro)
c.1262T>C (p.Leu421Pro)
c.1037T>C (p.Leu346Pro)
c.1229T>C (p.Leu410Pro)
c.977T>C (p.Leu326Pro)
c.965T>C (p.Leu322Pro)
15g.42777196A>TCA392015997TTBK2c.1244T>A (p.Leu415His)
c.1139T>A (p.Leu380His)
c.2459T>A (p.Leu820His)
c.1262T>A (p.Leu421His)
c.1037T>A (p.Leu346His)
c.1229T>A (p.Leu410His)
c.977T>A (p.Leu326His)
c.965T>A (p.Leu322His)
15g.42777197G>ACA392016005TTBK2c.1243C>T (p.Leu415Phe)
c.1138C>T (p.Leu380Phe)
c.2458C>T (p.Leu820Phe)
c.1261C>T (p.Leu421Phe)
c.1036C>T (p.Leu346Phe)
c.1228C>T (p.Leu410Phe)
c.976C>T (p.Leu326Phe)
c.964C>T (p.Leu322Phe)
15g.42777197G>CCA392016010TTBK2c.1243C>G (p.Leu415Val)
c.1138C>G (p.Leu380Val)
c.2458C>G (p.Leu820Val)
c.1261C>G (p.Leu421Val)
c.1036C>G (p.Leu346Val)
c.1228C>G (p.Leu410Val)
c.976C>G (p.Leu326Val)
c.964C>G (p.Leu322Val)
15g.42777197G>TCA392016002TTBK2c.1243C>A (p.Leu415Ile)
c.1138C>A (p.Leu380Ile)
c.2458C>A (p.Leu820Ile)
c.1261C>A (p.Leu421Ile)
c.1036C>A (p.Leu346Ile)
c.1228C>A (p.Leu410Ile)
c.976C>A (p.Leu326Ile)
c.964C>A (p.Leu322Ile)
15g.42777198A>CCA489893026TTBK2c.1242T>G (p.Leu414=)
c.1137T>G (p.Leu379=)
c.2457T>G (p.Leu819=)
c.1260T>G (p.Leu420=)
c.1035T>G (p.Leu345=)
c.1227T>G (p.Leu409=)
c.975T>G (p.Leu325=)
c.963T>G (p.Leu321=)
15g.42777198A>GCA489893027TTBK2c.1242T>C (p.Leu414=)
c.1137T>C (p.Leu379=)
c.2457T>C (p.Leu819=)
c.1260T>C (p.Leu420=)
c.1035T>C (p.Leu345=)
c.1227T>C (p.Leu409=)
c.975T>C (p.Leu325=)
c.963T>C (p.Leu321=)
15g.42777198A>TCA489893028TTBK2c.1242T>A (p.Leu414=)
c.1137T>A (p.Leu379=)
c.2457T>A (p.Leu819=)
c.1260T>A (p.Leu420=)
c.1035T>A (p.Leu345=)
c.1227T>A (p.Leu409=)
c.975T>A (p.Leu325=)
c.963T>A (p.Leu321=)
15g.42777199A=CA2172895411TTBK2c.1241T= (p.Leu414=)
c.1136T= (p.Leu379=)
c.2456T= (p.Leu819=)
c.1259T= (p.Leu420=)
c.1034T= (p.Leu345=)
c.1226T= (p.Leu409=)
c.974T= (p.Leu325=)
c.962T= (p.Leu321=)
15g.42777199A>CCA392016012TTBK2c.1241T>G (p.Leu414Arg)
c.1136T>G (p.Leu379Arg)
c.2456T>G (p.Leu819Arg)
c.1259T>G (p.Leu420Arg)
c.1034T>G (p.Leu345Arg)
c.1226T>G (p.Leu409Arg)
c.974T>G (p.Leu325Arg)
c.962T>G (p.Leu321Arg)
 dbSNP gnomAD v2 gnomAD v4
15g.42777199A>GCA392016015TTBK2c.1241T>C (p.Leu414Pro)
c.1136T>C (p.Leu379Pro)
c.2456T>C (p.Leu819Pro)
c.1259T>C (p.Leu420Pro)
c.1034T>C (p.Leu345Pro)
c.1226T>C (p.Leu409Pro)
c.974T>C (p.Leu325Pro)
c.962T>C (p.Leu321Pro)
15g.42777199A>TCA392016018TTBK2c.1241T>A (p.Leu414His)
c.1136T>A (p.Leu379His)
c.2456T>A (p.Leu819His)
c.1259T>A (p.Leu420His)
c.1034T>A (p.Leu345His)
c.1226T>A (p.Leu409His)
c.974T>A (p.Leu325His)
c.962T>A (p.Leu321His)
15g.42777200G>ACA392016022TTBK2c.1240C>T (p.Leu414Phe)
c.1135C>T (p.Leu379Phe)
c.2455C>T (p.Leu819Phe)
c.1258C>T (p.Leu420Phe)
c.1033C>T (p.Leu345Phe)
c.1225C>T (p.Leu409Phe)
c.973C>T (p.Leu325Phe)
c.961C>T (p.Leu321Phe)
 dbSNP
15g.42777200G>CCA392016026TTBK2c.1240C>G (p.Leu414Val)
c.1135C>G (p.Leu379Val)
c.2455C>G (p.Leu819Val)
c.1258C>G (p.Leu420Val)
c.1033C>G (p.Leu345Val)
c.1225C>G (p.Leu409Val)
c.973C>G (p.Leu325Val)
c.961C>G (p.Leu321Val)
15g.42777200G=CA2172895414TTBK2c.1240C= (p.Leu414=)
c.1135C= (p.Leu379=)
c.2455C= (p.Leu819=)
c.1258C= (p.Leu420=)
c.1033C= (p.Leu345=)
c.1225C= (p.Leu409=)
c.973C= (p.Leu325=)
c.961C= (p.Leu321=)
15g.42777200G>TCA392016028TTBK2c.1240C>A (p.Leu414Ile)
c.1135C>A (p.Leu379Ile)
c.2455C>A (p.Leu819Ile)
c.1258C>A (p.Leu420Ile)
c.1033C>A (p.Leu345Ile)
c.1225C>A (p.Leu409Ile)
c.973C>A (p.Leu325Ile)
c.961C>A (p.Leu321Ile)
15g.42777201A>CCA489893029TTBK2c.1239T>G (p.Gly413=)
c.1134T>G (p.Gly378=)
c.2454T>G (p.Gly818=)
c.1257T>G (p.Gly419=)
c.1032T>G (p.Gly344=)
c.1224T>G (p.Gly408=)
c.972T>G (p.Gly324=)
c.960T>G (p.Gly320=)
15g.42777201A>GCA489893030TTBK2c.1239T>C (p.Gly413=)
c.1134T>C (p.Gly378=)
c.2454T>C (p.Gly818=)
c.1257T>C (p.Gly419=)
c.1032T>C (p.Gly344=)
c.1224T>C (p.Gly408=)
c.972T>C (p.Gly324=)
c.960T>C (p.Gly320=)
15g.42777201A>TCA489893031TTBK2c.1239T>A (p.Gly413=)
c.1134T>A (p.Gly378=)
c.2454T>A (p.Gly818=)
c.1257T>A (p.Gly419=)
c.1032T>A (p.Gly344=)
c.1224T>A (p.Gly408=)
c.972T>A (p.Gly324=)
c.960T>A (p.Gly320=)
15g.42777202C>ACA7516930TTBK2c.1238G>T (p.Gly413Val)
c.1133G>T (p.Gly378Val)
c.2453G>T (p.Gly818Val)
c.1256G>T (p.Gly419Val)
c.1031G>T (p.Gly344Val)
c.1223G>T (p.Gly408Val)
c.971G>T (p.Gly324Val)
c.959G>T (p.Gly320Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777202C=CA2172895416TTBK2c.1238G= (p.Gly413=)
c.1133G= (p.Gly378=)
c.2453G= (p.Gly818=)
c.1256G= (p.Gly419=)
c.1031G= (p.Gly344=)
c.1223G= (p.Gly408=)
c.971G= (p.Gly324=)
c.959G= (p.Gly320=)
15g.42777202C>GCA392016037TTBK2c.1238G>C (p.Gly413Ala)
c.1133G>C (p.Gly378Ala)
c.2453G>C (p.Gly818Ala)
c.1256G>C (p.Gly419Ala)
c.1031G>C (p.Gly344Ala)
c.1223G>C (p.Gly408Ala)
c.971G>C (p.Gly324Ala)
c.959G>C (p.Gly320Ala)
 gnomAD v4
15g.42777202C>TCA392016039TTBK2c.1238G>A (p.Gly413Asp)
c.1133G>A (p.Gly378Asp)
c.2453G>A (p.Gly818Asp)
c.1256G>A (p.Gly419Asp)
c.1031G>A (p.Gly344Asp)
c.1223G>A (p.Gly408Asp)
c.971G>A (p.Gly324Asp)
c.959G>A (p.Gly320Asp)
15g.42777203C>ACA392016045TTBK2c.1237G>T (p.Gly413Cys)
c.1132G>T (p.Gly378Cys)
c.2452G>T (p.Gly818Cys)
c.1255G>T (p.Gly419Cys)
c.1030G>T (p.Gly344Cys)
c.1222G>T (p.Gly408Cys)
c.970G>T (p.Gly324Cys)
c.958G>T (p.Gly320Cys)
 ClinVar dbSNP
15g.42777203C=CA2172895420TTBK2c.1237G= (p.Gly413=)
c.1132G= (p.Gly378=)
c.2452G= (p.Gly818=)
c.1255G= (p.Gly419=)
c.1030G= (p.Gly344=)
c.1222G= (p.Gly408=)
c.970G= (p.Gly324=)
c.958G= (p.Gly320=)
15g.42777203C>GCA392016051TTBK2c.1237G>C (p.Gly413Arg)
c.1132G>C (p.Gly378Arg)
c.2452G>C (p.Gly818Arg)
c.1255G>C (p.Gly419Arg)
c.1030G>C (p.Gly344Arg)
c.1222G>C (p.Gly408Arg)
c.970G>C (p.Gly324Arg)
c.958G>C (p.Gly320Arg)
15g.42777203C>TCA392016053TTBK2c.1237G>A (p.Gly413Ser)
c.1132G>A (p.Gly378Ser)
c.2452G>A (p.Gly818Ser)
c.1255G>A (p.Gly419Ser)
c.1030G>A (p.Gly344Ser)
c.1222G>A (p.Gly408Ser)
c.970G>A (p.Gly324Ser)
c.958G>A (p.Gly320Ser)
15g.42777204A>CCA392016058TTBK2c.1236T>G (p.Asn412Lys)
c.1131T>G (p.Asn377Lys)
c.2451T>G (p.Asn817Lys)
c.1254T>G (p.Asn418Lys)
c.1029T>G (p.Asn343Lys)
c.1221T>G (p.Asn407Lys)
c.969T>G (p.Asn323Lys)
c.957T>G (p.Asn319Lys)
15g.42777204A>GCA489893032TTBK2c.1236T>C (p.Asn412=)
c.1131T>C (p.Asn377=)
c.2451T>C (p.Asn817=)
c.1254T>C (p.Asn418=)
c.1029T>C (p.Asn343=)
c.1221T>C (p.Asn407=)
c.969T>C (p.Asn323=)
c.957T>C (p.Asn319=)
15g.42777204A>TCA392016061TTBK2c.1236T>A (p.Asn412Lys)
c.1131T>A (p.Asn377Lys)
c.2451T>A (p.Asn817Lys)
c.1254T>A (p.Asn418Lys)
c.1029T>A (p.Asn343Lys)
c.1221T>A (p.Asn407Lys)
c.969T>A (p.Asn323Lys)
c.957T>A (p.Asn319Lys)
15g.42777205T>ACA392016075TTBK2c.1235A>T (p.Asn412Ile)
c.1130A>T (p.Asn377Ile)
c.2450A>T (p.Asn817Ile)
c.1253A>T (p.Asn418Ile)
c.1028A>T (p.Asn343Ile)
c.1220A>T (p.Asn407Ile)
c.968A>T (p.Asn323Ile)
c.956A>T (p.Asn319Ile)
15g.42777205T>CCA392016070TTBK2c.1235A>G (p.Asn412Ser)
c.1130A>G (p.Asn377Ser)
c.2450A>G (p.Asn817Ser)
c.1253A>G (p.Asn418Ser)
c.1028A>G (p.Asn343Ser)
c.1220A>G (p.Asn407Ser)
c.968A>G (p.Asn323Ser)
c.956A>G (p.Asn319Ser)
15g.42777205T>GCA392016067TTBK2c.1235A>C (p.Asn412Thr)
c.1130A>C (p.Asn377Thr)
c.2450A>C (p.Asn817Thr)
c.1253A>C (p.Asn418Thr)
c.1028A>C (p.Asn343Thr)
c.1220A>C (p.Asn407Thr)
c.968A>C (p.Asn323Thr)
c.956A>C (p.Asn319Thr)
15g.42777206T>ACA7516931TTBK2c.1234A>T (p.Asn412Tyr)
c.1129A>T (p.Asn377Tyr)
c.2449A>T (p.Asn817Tyr)
c.1252A>T (p.Asn418Tyr)
c.1027A>T (p.Asn343Tyr)
c.1219A>T (p.Asn407Tyr)
c.967A>T (p.Asn323Tyr)
c.955A>T (p.Asn319Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777206T>CCA392016093TTBK2c.1234A>G (p.Asn412Asp)
c.1129A>G (p.Asn377Asp)
c.2449A>G (p.Asn817Asp)
c.1252A>G (p.Asn418Asp)
c.1027A>G (p.Asn343Asp)
c.1219A>G (p.Asn407Asp)
c.967A>G (p.Asn323Asp)
c.955A>G (p.Asn319Asp)
15g.42777206T>GCA392016096TTBK2c.1234A>C (p.Asn412His)
c.1129A>C (p.Asn377His)
c.2449A>C (p.Asn817His)
c.1252A>C (p.Asn418His)
c.1027A>C (p.Asn343His)
c.1219A>C (p.Asn407His)
c.967A>C (p.Asn323His)
c.955A>C (p.Asn319His)
15g.42777206T=CA2172895425TTBK2c.1234A= (p.Asn412=)
c.1129A= (p.Asn377=)
c.2449A= (p.Asn817=)
c.1252A= (p.Asn418=)
c.1027A= (p.Asn343=)
c.1219A= (p.Asn407=)
c.967A= (p.Asn323=)
c.955A= (p.Asn319=)
15g.42777207T>ACA489893033TTBK2c.1233A>T (p.Ala411=)
c.1128A>T (p.Ala376=)
c.2448A>T (p.Ala816=)
c.1251A>T (p.Ala417=)
c.1026A>T (p.Ala342=)
c.1218A>T (p.Ala406=)
c.966A>T (p.Ala322=)
c.954A>T (p.Ala318=)
15g.42777207T>CCA489893034TTBK2c.1233A>G (p.Ala411=)
c.1128A>G (p.Ala376=)
c.2448A>G (p.Ala816=)
c.1251A>G (p.Ala417=)
c.1026A>G (p.Ala342=)
c.1218A>G (p.Ala406=)
c.966A>G (p.Ala322=)
c.954A>G (p.Ala318=)
15g.42777207T>GCA489893035TTBK2c.1233A>C (p.Ala411=)
c.1128A>C (p.Ala376=)
c.2448A>C (p.Ala816=)
c.1251A>C (p.Ala417=)
c.1026A>C (p.Ala342=)
c.1218A>C (p.Ala406=)
c.966A>C (p.Ala322=)
c.954A>C (p.Ala318=)
15g.42777208G>ACA392016101TTBK2c.1232C>T (p.Ala411Val)
c.1127C>T (p.Ala376Val)
c.2447C>T (p.Ala816Val)
c.1250C>T (p.Ala417Val)
c.1025C>T (p.Ala342Val)
c.1217C>T (p.Ala406Val)
c.965C>T (p.Ala322Val)
c.953C>T (p.Ala318Val)
15g.42777208G>CCA392016105TTBK2c.1232C>G (p.Ala411Gly)
c.1127C>G (p.Ala376Gly)
c.2447C>G (p.Ala816Gly)
c.1250C>G (p.Ala417Gly)
c.1025C>G (p.Ala342Gly)
c.1217C>G (p.Ala406Gly)
c.965C>G (p.Ala322Gly)
c.953C>G (p.Ala318Gly)
 dbSNP gnomAD v4
15g.42777208G=CA2172895428TTBK2c.1232C= (p.Ala411=)
c.1127C= (p.Ala376=)
c.2447C= (p.Ala816=)
c.1250C= (p.Ala417=)
c.1025C= (p.Ala342=)
c.1217C= (p.Ala406=)
c.965C= (p.Ala322=)
c.953C= (p.Ala318=)
15g.42777208G>TCA392016108TTBK2c.1232C>A (p.Ala411Glu)
c.1127C>A (p.Ala376Glu)
c.2447C>A (p.Ala816Glu)
c.1250C>A (p.Ala417Glu)
c.1025C>A (p.Ala342Glu)
c.1217C>A (p.Ala406Glu)
c.965C>A (p.Ala322Glu)
c.953C>A (p.Ala318Glu)
15g.42777208dupCA2499222926TTBK2c.1232dup (p.Asn412LysfsTer?)
c.1127dup (p.Asn377LysfsTer?)
c.2447dup (p.Asn817LysfsTer?)
c.1250dup (p.Asn418LysfsTer?)
c.1025dup (p.Asn343LysfsTer?)
c.1217dup (p.Asn407LysfsTer?)
c.965dup (p.Asn323LysfsTer?)
c.953dup (p.Asn319LysfsTer?)
 ClinVar dbSNP
15g.42777209C>ACA7516933TTBK2c.1231G>T (p.Ala411Ser)
c.1126G>T (p.Ala376Ser)
c.2446G>T (p.Ala816Ser)
c.1249G>T (p.Ala417Ser)
c.1024G>T (p.Ala342Ser)
c.1216G>T (p.Ala406Ser)
c.964G>T (p.Ala322Ser)
c.952G>T (p.Ala318Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777209C=CA2172895431TTBK2c.1231G= (p.Ala411=)
c.1126G= (p.Ala376=)
c.2446G= (p.Ala816=)
c.1249G= (p.Ala417=)
c.1024G= (p.Ala342=)
c.1216G= (p.Ala406=)
c.964G= (p.Ala322=)
c.952G= (p.Ala318=)
15g.42777209C>GCA7516932TTBK2c.1231G>C (p.Ala411Pro)
c.1126G>C (p.Ala376Pro)
c.2446G>C (p.Ala816Pro)
c.1249G>C (p.Ala417Pro)
c.1024G>C (p.Ala342Pro)
c.1216G>C (p.Ala406Pro)
c.964G>C (p.Ala322Pro)
c.952G>C (p.Ala318Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777209C>TCA392016122TTBK2c.1231G>A (p.Ala411Thr)
c.1126G>A (p.Ala376Thr)
c.2446G>A (p.Ala816Thr)
c.1249G>A (p.Ala417Thr)
c.1024G>A (p.Ala342Thr)
c.1216G>A (p.Ala406Thr)
c.964G>A (p.Ala322Thr)
c.952G>A (p.Ala318Thr)
15g.42777210C>ACA392016128TTBK2c.1230G>T (p.Gln410His)
c.1125G>T (p.Gln375His)
c.2445G>T (p.Gln815His)
c.1248G>T (p.Gln416His)
c.1023G>T (p.Gln341His)
c.1215G>T (p.Gln405His)
c.963G>T (p.Gln321His)
c.951G>T (p.Gln317His)
15g.42777210C>GCA392016131TTBK2c.1230G>C (p.Gln410His)
c.1125G>C (p.Gln375His)
c.2445G>C (p.Gln815His)
c.1248G>C (p.Gln416His)
c.1023G>C (p.Gln341His)
c.1215G>C (p.Gln405His)
c.963G>C (p.Gln321His)
c.951G>C (p.Gln317His)
15g.42777210C>TCA489893036TTBK2c.1230G>A (p.Gln410=)
c.1125G>A (p.Gln375=)
c.2445G>A (p.Gln815=)
c.1248G>A (p.Gln416=)
c.1023G>A (p.Gln341=)
c.1215G>A (p.Gln405=)
c.963G>A (p.Gln321=)
c.951G>A (p.Gln317=)
15g.42777211T>ACA392016154TTBK2c.1229A>T (p.Gln410Leu)
c.1124A>T (p.Gln375Leu)
c.2444A>T (p.Gln815Leu)
c.1247A>T (p.Gln416Leu)
c.1022A>T (p.Gln341Leu)
c.1214A>T (p.Gln405Leu)
c.962A>T (p.Gln321Leu)
c.950A>T (p.Gln317Leu)
15g.42777211T>CCA392016157TTBK2c.1229A>G (p.Gln410Arg)
c.1124A>G (p.Gln375Arg)
c.2444A>G (p.Gln815Arg)
c.1247A>G (p.Gln416Arg)
c.1022A>G (p.Gln341Arg)
c.1214A>G (p.Gln405Arg)
c.962A>G (p.Gln321Arg)
c.950A>G (p.Gln317Arg)
 ClinVar
15g.42777211T>GCA392016161TTBK2c.1229A>C (p.Gln410Pro)
c.1124A>C (p.Gln375Pro)
c.2444A>C (p.Gln815Pro)
c.1247A>C (p.Gln416Pro)
c.1022A>C (p.Gln341Pro)
c.1214A>C (p.Gln405Pro)
c.962A>C (p.Gln321Pro)
c.950A>C (p.Gln317Pro)
15g.42777212G>ACA392016168TTBK2c.1228C>T (p.Gln410Ter)
c.1123C>T (p.Gln375Ter)
c.2443C>T (p.Gln815Ter)
c.1246C>T (p.Gln416Ter)
c.1021C>T (p.Gln341Ter)
c.1213C>T (p.Gln405Ter)
c.961C>T (p.Gln321Ter)
c.949C>T (p.Gln317Ter)
15g.42777212G>CCA392016171TTBK2c.1228C>G (p.Gln410Glu)
c.1123C>G (p.Gln375Glu)
c.2443C>G (p.Gln815Glu)
c.1246C>G (p.Gln416Glu)
c.1021C>G (p.Gln341Glu)
c.1213C>G (p.Gln405Glu)
c.961C>G (p.Gln321Glu)
c.949C>G (p.Gln317Glu)
15g.42777212G>TCA392016164TTBK2c.1228C>A (p.Gln410Lys)
c.1123C>A (p.Gln375Lys)
c.2443C>A (p.Gln815Lys)
c.1246C>A (p.Gln416Lys)
c.1021C>A (p.Gln341Lys)
c.1213C>A (p.Gln405Lys)
c.961C>A (p.Gln321Lys)
c.949C>A (p.Gln317Lys)
15g.42777213G>ACA489893037TTBK2c.1227C>T (p.Gly409=)
c.1122C>T (p.Gly374=)
c.2442C>T (p.Gly814=)
c.1245C>T (p.Gly415=)
c.1020C>T (p.Gly340=)
c.1212C>T (p.Gly404=)
c.960C>T (p.Gly320=)
c.948C>T (p.Gly316=)
15g.42777213G>CCA489893038TTBK2c.1227C>G (p.Gly409=)
c.1122C>G (p.Gly374=)
c.2442C>G (p.Gly814=)
c.1245C>G (p.Gly415=)
c.1020C>G (p.Gly340=)
c.1212C>G (p.Gly404=)
c.960C>G (p.Gly320=)
c.948C>G (p.Gly316=)
15g.42777213G>TCA489893039TTBK2c.1227C>A (p.Gly409=)
c.1122C>A (p.Gly374=)
c.2442C>A (p.Gly814=)
c.1245C>A (p.Gly415=)
c.1020C>A (p.Gly340=)
c.1212C>A (p.Gly404=)
c.960C>A (p.Gly320=)
c.948C>A (p.Gly316=)
15g.42777214C>ACA392016176TTBK2c.1226G>T (p.Gly409Val)
c.1121G>T (p.Gly374Val)
c.2441G>T (p.Gly814Val)
c.1244G>T (p.Gly415Val)
c.1019G>T (p.Gly340Val)
c.1211G>T (p.Gly404Val)
c.959G>T (p.Gly320Val)
c.947G>T (p.Gly316Val)
15g.42777214C>GCA392016175TTBK2c.1226G>C (p.Gly409Ala)
c.1121G>C (p.Gly374Ala)
c.2441G>C (p.Gly814Ala)
c.1244G>C (p.Gly415Ala)
c.1019G>C (p.Gly340Ala)
c.1211G>C (p.Gly404Ala)
c.959G>C (p.Gly320Ala)
c.947G>C (p.Gly316Ala)
15g.42777214C>TCA392016177TTBK2c.1226G>A (p.Gly409Asp)
c.1121G>A (p.Gly374Asp)
c.2441G>A (p.Gly814Asp)
c.1244G>A (p.Gly415Asp)
c.1019G>A (p.Gly340Asp)
c.1211G>A (p.Gly404Asp)
c.959G>A (p.Gly320Asp)
c.947G>A (p.Gly316Asp)
 gnomAD v4
15g.42777215C>ACA392016179TTBK2c.1225G>T (p.Gly409Cys)
c.1120G>T (p.Gly374Cys)
c.2440G>T (p.Gly814Cys)
c.1243G>T (p.Gly415Cys)
c.1018G>T (p.Gly340Cys)
c.1210G>T (p.Gly404Cys)
c.958G>T (p.Gly320Cys)
c.946G>T (p.Gly316Cys)
 dbSNP
15g.42777215C=CA2172895436TTBK2c.1225G= (p.Gly409=)
c.1120G= (p.Gly374=)
c.2440G= (p.Gly814=)
c.1243G= (p.Gly415=)
c.1018G= (p.Gly340=)
c.1210G= (p.Gly404=)
c.958G= (p.Gly320=)
c.946G= (p.Gly316=)
15g.42777215C>GCA392016186TTBK2c.1225G>C (p.Gly409Arg)
c.1120G>C (p.Gly374Arg)
c.2440G>C (p.Gly814Arg)
c.1243G>C (p.Gly415Arg)
c.1018G>C (p.Gly340Arg)
c.1210G>C (p.Gly404Arg)
c.958G>C (p.Gly320Arg)
c.946G>C (p.Gly316Arg)
15g.42777215C>TCA392016182TTBK2c.1225G>A (p.Gly409Ser)
c.1120G>A (p.Gly374Ser)
c.2440G>A (p.Gly814Ser)
c.1243G>A (p.Gly415Ser)
c.1018G>A (p.Gly340Ser)
c.1210G>A (p.Gly404Ser)
c.958G>A (p.Gly320Ser)
c.946G>A (p.Gly316Ser)
 dbSNP
15g.42777216A>CCA392016190TTBK2c.1224T>G (p.His408Gln)
c.1119T>G (p.His373Gln)
c.2439T>G (p.His813Gln)
c.1242T>G (p.His414Gln)
c.1017T>G (p.His339Gln)
c.1209T>G (p.His403Gln)
c.957T>G (p.His319Gln)
c.945T>G (p.His315Gln)
15g.42777216A>GCA489893040TTBK2c.1224T>C (p.His408=)
c.1119T>C (p.His373=)
c.2439T>C (p.His813=)
c.1242T>C (p.His414=)
c.1017T>C (p.His339=)
c.1209T>C (p.His403=)
c.957T>C (p.His319=)
c.945T>C (p.His315=)
 gnomAD v4
15g.42777216A>TCA392016194TTBK2c.1224T>A (p.His408Gln)
c.1119T>A (p.His373Gln)
c.2439T>A (p.His813Gln)
c.1242T>A (p.His414Gln)
c.1017T>A (p.His339Gln)
c.1209T>A (p.His403Gln)
c.957T>A (p.His319Gln)
c.945T>A (p.His315Gln)
15g.42777217T>ACA392016195TTBK2c.1223A>T (p.His408Leu)
c.1118A>T (p.His373Leu)
c.2438A>T (p.His813Leu)
c.1241A>T (p.His414Leu)
c.1016A>T (p.His339Leu)
c.1208A>T (p.His403Leu)
c.956A>T (p.His319Leu)
c.944A>T (p.His315Leu)
15g.42777217T>CCA392016196TTBK2c.1223A>G (p.His408Arg)
c.1118A>G (p.His373Arg)
c.2438A>G (p.His813Arg)
c.1241A>G (p.His414Arg)
c.1016A>G (p.His339Arg)
c.1208A>G (p.His403Arg)
c.956A>G (p.His319Arg)
c.944A>G (p.His315Arg)
 COSMIC
15g.42777217T>GCA392016197TTBK2c.1223A>C (p.His408Pro)
c.1118A>C (p.His373Pro)
c.2438A>C (p.His813Pro)
c.1241A>C (p.His414Pro)
c.1016A>C (p.His339Pro)
c.1208A>C (p.His403Pro)
c.956A>C (p.His319Pro)
c.944A>C (p.His315Pro)
15g.42777218G>ACA392016201TTBK2c.1222C>T (p.His408Tyr)
c.1117C>T (p.His373Tyr)
c.2437C>T (p.His813Tyr)
c.1240C>T (p.His414Tyr)
c.1015C>T (p.His339Tyr)
c.1207C>T (p.His403Tyr)
c.955C>T (p.His319Tyr)
c.943C>T (p.His315Tyr)
15g.42777218G>CCA392016203TTBK2c.1222C>G (p.His408Asp)
c.1117C>G (p.His373Asp)
c.2437C>G (p.His813Asp)
c.1240C>G (p.His414Asp)
c.1015C>G (p.His339Asp)
c.1207C>G (p.His403Asp)
c.955C>G (p.His319Asp)
c.943C>G (p.His315Asp)
15g.42777218G>TCA392016206TTBK2c.1222C>A (p.His408Asn)
c.1117C>A (p.His373Asn)
c.2437C>A (p.His813Asn)
c.1240C>A (p.His414Asn)
c.1015C>A (p.His339Asn)
c.1207C>A (p.His403Asn)
c.955C>A (p.His319Asn)
c.943C>A (p.His315Asn)
15g.42777219G>ACA489893041TTBK2c.1221C>T (p.Ser407=)
c.1116C>T (p.Ser372=)
c.2436C>T (p.Ser812=)
c.1239C>T (p.Ser413=)
c.1014C>T (p.Ser338=)
c.1206C>T (p.Ser402=)
c.954C>T (p.Ser318=)
c.942C>T (p.Ser314=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.42777219G>CCA7516934TTBK2c.1221C>G (p.Ser407Arg)
c.1116C>G (p.Ser372Arg)
c.2436C>G (p.Ser812Arg)
c.1239C>G (p.Ser413Arg)
c.1014C>G (p.Ser338Arg)
c.1206C>G (p.Ser402Arg)
c.954C>G (p.Ser318Arg)
c.942C>G (p.Ser314Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777219G=CA2172895440TTBK2c.1221C= (p.Ser407=)
c.1116C= (p.Ser372=)
c.2436C= (p.Ser812=)
c.1239C= (p.Ser413=)
c.1014C= (p.Ser338=)
c.1206C= (p.Ser402=)
c.954C= (p.Ser318=)
c.942C= (p.Ser314=)
15g.42777219G>TCA392016210TTBK2c.1221C>A (p.Ser407Arg)
c.1116C>A (p.Ser372Arg)
c.2436C>A (p.Ser812Arg)
c.1239C>A (p.Ser413Arg)
c.1014C>A (p.Ser338Arg)
c.1206C>A (p.Ser402Arg)
c.954C>A (p.Ser318Arg)
c.942C>A (p.Ser314Arg)
15g.42777220C>ACA392016222TTBK2c.1220G>T (p.Ser407Ile)
c.1115G>T (p.Ser372Ile)
c.2435G>T (p.Ser812Ile)
c.1238G>T (p.Ser413Ile)
c.1013G>T (p.Ser338Ile)
c.1205G>T (p.Ser402Ile)
c.953G>T (p.Ser318Ile)
c.941G>T (p.Ser314Ile)
15g.42777220C=CA2172895445TTBK2c.1220G= (p.Ser407=)
c.1115G= (p.Ser372=)
c.2435G= (p.Ser812=)
c.1238G= (p.Ser413=)
c.1013G= (p.Ser338=)
c.1205G= (p.Ser402=)
c.953G= (p.Ser318=)
c.941G= (p.Ser314=)
15g.42777220C>GCA392016214TTBK2c.1220G>C (p.Ser407Thr)
c.1115G>C (p.Ser372Thr)
c.2435G>C (p.Ser812Thr)
c.1238G>C (p.Ser413Thr)
c.1013G>C (p.Ser338Thr)
c.1205G>C (p.Ser402Thr)
c.953G>C (p.Ser318Thr)
c.941G>C (p.Ser314Thr)
15g.42777220C>TCA7516935TTBK2c.1220G>A (p.Ser407Asn)
c.1115G>A (p.Ser372Asn)
c.2435G>A (p.Ser812Asn)
c.1238G>A (p.Ser413Asn)
c.1013G>A (p.Ser338Asn)
c.1205G>A (p.Ser402Asn)
c.953G>A (p.Ser318Asn)
c.941G>A (p.Ser314Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777221T>ACA392016227TTBK2c.1219A>T (p.Ser407Cys)
c.1114A>T (p.Ser372Cys)
c.2434A>T (p.Ser812Cys)
c.1237A>T (p.Ser413Cys)
c.1012A>T (p.Ser338Cys)
c.1204A>T (p.Ser402Cys)
c.952A>T (p.Ser318Cys)
c.940A>T (p.Ser314Cys)
15g.42777221T>CCA7516936TTBK2c.1219A>G (p.Ser407Gly)
c.1114A>G (p.Ser372Gly)
c.2434A>G (p.Ser812Gly)
c.1237A>G (p.Ser413Gly)
c.1012A>G (p.Ser338Gly)
c.1204A>G (p.Ser402Gly)
c.952A>G (p.Ser318Gly)
c.940A>G (p.Ser314Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777221T>GCA392016236TTBK2c.1219A>C (p.Ser407Arg)
c.1114A>C (p.Ser372Arg)
c.2434A>C (p.Ser812Arg)
c.1237A>C (p.Ser413Arg)
c.1012A>C (p.Ser338Arg)
c.1204A>C (p.Ser402Arg)
c.952A>C (p.Ser318Arg)
c.940A>C (p.Ser314Arg)
15g.42777221T=CA2172895447TTBK2c.1219A= (p.Ser407=)
c.1114A= (p.Ser372=)
c.2434A= (p.Ser812=)
c.1237A= (p.Ser413=)
c.1012A= (p.Ser338=)
c.1204A= (p.Ser402=)
c.952A= (p.Ser318=)
c.940A= (p.Ser314=)
15g.42777222G>ACA7516937TTBK2c.1218C>T (p.Asn406=)
c.1113C>T (p.Asn371=)
c.2433C>T (p.Asn811=)
c.1236C>T (p.Asn412=)
c.1011C>T (p.Asn337=)
c.1203C>T (p.Asn401=)
c.951C>T (p.Asn317=)
c.939C>T (p.Asn313=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777222G>CCA392016237TTBK2c.1218C>G (p.Asn406Lys)
c.1113C>G (p.Asn371Lys)
c.2433C>G (p.Asn811Lys)
c.1236C>G (p.Asn412Lys)
c.1011C>G (p.Asn337Lys)
c.1203C>G (p.Asn401Lys)
c.951C>G (p.Asn317Lys)
c.939C>G (p.Asn313Lys)
15g.42777222G=CA2172895451TTBK2c.1218C= (p.Asn406=)
c.1113C= (p.Asn371=)
c.2433C= (p.Asn811=)
c.1236C= (p.Asn412=)
c.1011C= (p.Asn337=)
c.1203C= (p.Asn401=)
c.951C= (p.Asn317=)
c.939C= (p.Asn313=)
15g.42777222G>TCA392016239TTBK2c.1218C>A (p.Asn406Lys)
c.1113C>A (p.Asn371Lys)
c.2433C>A (p.Asn811Lys)
c.1236C>A (p.Asn412Lys)
c.1011C>A (p.Asn337Lys)
c.1203C>A (p.Asn401Lys)
c.951C>A (p.Asn317Lys)
c.939C>A (p.Asn313Lys)
15g.42777223T>ACA392016245TTBK2c.1217A>T (p.Asn406Ile)
c.1112A>T (p.Asn371Ile)
c.2432A>T (p.Asn811Ile)
c.1235A>T (p.Asn412Ile)
c.1010A>T (p.Asn337Ile)
c.1202A>T (p.Asn401Ile)
c.950A>T (p.Asn317Ile)
c.938A>T (p.Asn313Ile)
15g.42777223T>CCA392016246TTBK2c.1217A>G (p.Asn406Ser)
c.1112A>G (p.Asn371Ser)
c.2432A>G (p.Asn811Ser)
c.1235A>G (p.Asn412Ser)
c.1010A>G (p.Asn337Ser)
c.1202A>G (p.Asn401Ser)
c.950A>G (p.Asn317Ser)
c.938A>G (p.Asn313Ser)
15g.42777223T>GCA392016247TTBK2c.1217A>C (p.Asn406Thr)
c.1112A>C (p.Asn371Thr)
c.2432A>C (p.Asn811Thr)
c.1235A>C (p.Asn412Thr)
c.1010A>C (p.Asn337Thr)
c.1202A>C (p.Asn401Thr)
c.950A>C (p.Asn317Thr)
c.938A>C (p.Asn313Thr)
15g.42777224T>ACA392016251TTBK2c.1216A>T (p.Asn406Tyr)
c.1111A>T (p.Asn371Tyr)
c.2431A>T (p.Asn811Tyr)
c.1234A>T (p.Asn412Tyr)
c.1009A>T (p.Asn337Tyr)
c.1201A>T (p.Asn401Tyr)
c.949A>T (p.Asn317Tyr)
c.937A>T (p.Asn313Tyr)
15g.42777224T>CCA392016255TTBK2c.1216A>G (p.Asn406Asp)
c.1111A>G (p.Asn371Asp)
c.2431A>G (p.Asn811Asp)
c.1234A>G (p.Asn412Asp)
c.1009A>G (p.Asn337Asp)
c.1201A>G (p.Asn401Asp)
c.949A>G (p.Asn317Asp)
c.937A>G (p.Asn313Asp)
15g.42777224T>GCA392016259TTBK2c.1216A>C (p.Asn406His)
c.1111A>C (p.Asn371His)
c.2431A>C (p.Asn811His)
c.1234A>C (p.Asn412His)
c.1009A>C (p.Asn337His)
c.1201A>C (p.Asn401His)
c.949A>C (p.Asn317His)
c.937A>C (p.Asn313His)
15g.42777224_42777227delinsTCTCCA2172895454TTBK2c.1213_1216delinsGAGA (p.Glu405=)
c.1108_1111delinsGAGA (p.Glu370=)
c.2428_2431delinsGAGA (p.Glu810=)
c.1231_1234delinsGAGA (p.Glu411=)
c.1006_1009delinsGAGA (p.Glu336=)
c.1198_1201delinsGAGA (p.Glu400=)
c.946_949delinsGAGA (p.Glu316=)
c.934_937delinsGAGA (p.Glu312=)
15g.42777225C>ACA392016263TTBK2c.1215G>T (p.Glu405Asp)
c.1110G>T (p.Glu370Asp)
c.2430G>T (p.Glu810Asp)
c.1233G>T (p.Glu411Asp)
c.1008G>T (p.Glu336Asp)
c.1200G>T (p.Glu400Asp)
c.948G>T (p.Glu316Asp)
c.936G>T (p.Glu312Asp)
15g.42777225C>GCA392016264TTBK2c.1215G>C (p.Glu405Asp)
c.1110G>C (p.Glu370Asp)
c.2430G>C (p.Glu810Asp)
c.1233G>C (p.Glu411Asp)
c.1008G>C (p.Glu336Asp)
c.1200G>C (p.Glu400Asp)
c.948G>C (p.Glu316Asp)
c.936G>C (p.Glu312Asp)
15g.42777225C>TCA489893042TTBK2c.1215G>A (p.Glu405=)
c.1110G>A (p.Glu370=)
c.2430G>A (p.Glu810=)
c.1233G>A (p.Glu411=)
c.1008G>A (p.Glu336=)
c.1200G>A (p.Glu400=)
c.948G>A (p.Glu316=)
c.936G>A (p.Glu312=)
15g.42777228_42777230delCA7516938TTBK2c.1213_1215del (p.Glu405del)
c.1108_1110del (p.Glu370del)
c.2428_2430del (p.Glu810del)
c.1231_1233del (p.Glu411del)
c.1006_1008del (p.Glu336del)
c.1198_1200del (p.Glu400del)
c.946_948del (p.Glu316del)
c.934_936del (p.Glu312del)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777226T>ACA392016265TTBK2c.1214A>T (p.Glu405Val)
c.1109A>T (p.Glu370Val)
c.2429A>T (p.Glu810Val)
c.1232A>T (p.Glu411Val)
c.1007A>T (p.Glu336Val)
c.1199A>T (p.Glu400Val)
c.947A>T (p.Glu316Val)
c.935A>T (p.Glu312Val)
15g.42777226T>CCA392016267TTBK2c.1214A>G (p.Glu405Gly)
c.1109A>G (p.Glu370Gly)
c.2429A>G (p.Glu810Gly)
c.1232A>G (p.Glu411Gly)
c.1007A>G (p.Glu336Gly)
c.1199A>G (p.Glu400Gly)
c.947A>G (p.Glu316Gly)
c.935A>G (p.Glu312Gly)
15g.42777226T>GCA392016272TTBK2c.1214A>C (p.Glu405Ala)
c.1109A>C (p.Glu370Ala)
c.2429A>C (p.Glu810Ala)
c.1232A>C (p.Glu411Ala)
c.1007A>C (p.Glu336Ala)
c.1199A>C (p.Glu400Ala)
c.947A>C (p.Glu316Ala)
c.935A>C (p.Glu312Ala)
15g.42777227C>ACA392016276TTBK2c.1213G>T (p.Glu405Ter)
c.1108G>T (p.Glu370Ter)
c.2428G>T (p.Glu810Ter)
c.1231G>T (p.Glu411Ter)
c.1006G>T (p.Glu336Ter)
c.1198G>T (p.Glu400Ter)
c.946G>T (p.Glu316Ter)
c.934G>T (p.Glu312Ter)
15g.42777227C>GCA392016278TTBK2c.1213G>C (p.Glu405Gln)
c.1108G>C (p.Glu370Gln)
c.2428G>C (p.Glu810Gln)
c.1231G>C (p.Glu411Gln)
c.1006G>C (p.Glu336Gln)
c.1198G>C (p.Glu400Gln)
c.946G>C (p.Glu316Gln)
c.934G>C (p.Glu312Gln)
15g.42777227C>TCA392016281TTBK2c.1213G>A (p.Glu405Lys)
c.1108G>A (p.Glu370Lys)
c.2428G>A (p.Glu810Lys)
c.1231G>A (p.Glu411Lys)
c.1006G>A (p.Glu336Lys)
c.1198G>A (p.Glu400Lys)
c.946G>A (p.Glu316Lys)
c.934G>A (p.Glu312Lys)
15g.42777228C>ACA269889039TTBK2c.1212G>T (p.Glu404Asp)
c.1107G>T (p.Glu369Asp)
c.2427G>T (p.Glu809Asp)
c.1230G>T (p.Glu410Asp)
c.1005G>T (p.Glu335Asp)
c.1197G>T (p.Glu399Asp)
c.945G>T (p.Glu315Asp)
c.933G>T (p.Glu311Asp)
 dbSNP
15g.42777228C=CA2172895458TTBK2c.1212G= (p.Glu404=)
c.1107G= (p.Glu369=)
c.2427G= (p.Glu809=)
c.1230G= (p.Glu410=)
c.1005G= (p.Glu335=)
c.1197G= (p.Glu399=)
c.945G= (p.Glu315=)
c.933G= (p.Glu311=)
15g.42777228C>GCA392016287TTBK2c.1212G>C (p.Glu404Asp)
c.1107G>C (p.Glu369Asp)
c.2427G>C (p.Glu809Asp)
c.1230G>C (p.Glu410Asp)
c.1005G>C (p.Glu335Asp)
c.1197G>C (p.Glu399Asp)
c.945G>C (p.Glu315Asp)
c.933G>C (p.Glu311Asp)
15g.42777228C>TCA489893043TTBK2c.1212G>A (p.Glu404=)
c.1107G>A (p.Glu369=)
c.2427G>A (p.Glu809=)
c.1230G>A (p.Glu410=)
c.1005G>A (p.Glu335=)
c.1197G>A (p.Glu399=)
c.945G>A (p.Glu315=)
c.933G>A (p.Glu311=)
 gnomAD v4
15g.42777229T>ACA392016294TTBK2c.1211A>T (p.Glu404Val)
c.1106A>T (p.Glu369Val)
c.2426A>T (p.Glu809Val)
c.1229A>T (p.Glu410Val)
c.1004A>T (p.Glu335Val)
c.1196A>T (p.Glu399Val)
c.944A>T (p.Glu315Val)
c.932A>T (p.Glu311Val)
15g.42777229T>CCA392016297TTBK2c.1211A>G (p.Glu404Gly)
c.1106A>G (p.Glu369Gly)
c.2426A>G (p.Glu809Gly)
c.1229A>G (p.Glu410Gly)
c.1004A>G (p.Glu335Gly)
c.1196A>G (p.Glu399Gly)
c.944A>G (p.Glu315Gly)
c.932A>G (p.Glu311Gly)
 dbSNP
15g.42777229T>GCA392016301TTBK2c.1211A>C (p.Glu404Ala)
c.1106A>C (p.Glu369Ala)
c.2426A>C (p.Glu809Ala)
c.1229A>C (p.Glu410Ala)
c.1004A>C (p.Glu335Ala)
c.1196A>C (p.Glu399Ala)
c.944A>C (p.Glu315Ala)
c.932A>C (p.Glu311Ala)
15g.42777229T=CA2172895460TTBK2c.1211A= (p.Glu404=)
c.1106A= (p.Glu369=)
c.2426A= (p.Glu809=)
c.1229A= (p.Glu410=)
c.1004A= (p.Glu335=)
c.1196A= (p.Glu399=)
c.944A= (p.Glu315=)
c.932A= (p.Glu311=)
15g.42777230C>ACA392016307TTBK2c.1210G>T (p.Glu404Ter)
c.1105G>T (p.Glu369Ter)
c.2425G>T (p.Glu809Ter)
c.1228G>T (p.Glu410Ter)
c.1003G>T (p.Glu335Ter)
c.1195G>T (p.Glu399Ter)
c.943G>T (p.Glu315Ter)
c.931G>T (p.Glu311Ter)
15g.42777230C=CA2172895463TTBK2c.1210G= (p.Glu404=)
c.1105G= (p.Glu369=)
c.2425G= (p.Glu809=)
c.1228G= (p.Glu410=)
c.1003G= (p.Glu335=)
c.1195G= (p.Glu399=)
c.943G= (p.Glu315=)
c.931G= (p.Glu311=)
15g.42777230C>GCA392016311TTBK2c.1210G>C (p.Glu404Gln)
c.1105G>C (p.Glu369Gln)
c.2425G>C (p.Glu809Gln)
c.1228G>C (p.Glu410Gln)
c.1003G>C (p.Glu335Gln)
c.1195G>C (p.Glu399Gln)
c.943G>C (p.Glu315Gln)
c.931G>C (p.Glu311Gln)
15g.42777230C>TCA392016314TTBK2c.1210G>A (p.Glu404Lys)
c.1105G>A (p.Glu369Lys)
c.2425G>A (p.Glu809Lys)
c.1228G>A (p.Glu410Lys)
c.1003G>A (p.Glu335Lys)
c.1195G>A (p.Glu399Lys)
c.943G>A (p.Glu315Lys)
c.931G>A (p.Glu311Lys)
 dbSNP
15g.42777231T>ACA392016316TTBK2c.1209A>T (p.Glu403Asp)
c.1104A>T (p.Glu368Asp)
c.2424A>T (p.Glu808Asp)
c.1227A>T (p.Glu409Asp)
c.1002A>T (p.Glu334Asp)
c.1194A>T (p.Glu398Asp)
c.942A>T (p.Glu314Asp)
c.930A>T (p.Glu310Asp)
15g.42777231T>CCA489893044TTBK2c.1209A>G (p.Glu403=)
c.1104A>G (p.Glu368=)
c.2424A>G (p.Glu808=)
c.1227A>G (p.Glu409=)
c.1002A>G (p.Glu334=)
c.1194A>G (p.Glu398=)
c.942A>G (p.Glu314=)
c.930A>G (p.Glu310=)
15g.42777231T>GCA392016318TTBK2c.1209A>C (p.Glu403Asp)
c.1104A>C (p.Glu368Asp)
c.2424A>C (p.Glu808Asp)
c.1227A>C (p.Glu409Asp)
c.1002A>C (p.Glu334Asp)
c.1194A>C (p.Glu398Asp)
c.942A>C (p.Glu314Asp)
c.930A>C (p.Glu310Asp)
 dbSNP gnomAD v4
15g.42777231T=CA2172895465TTBK2c.1209A= (p.Glu403=)
c.1104A= (p.Glu368=)
c.2424A= (p.Glu808=)
c.1227A= (p.Glu409=)
c.1002A= (p.Glu334=)
c.1194A= (p.Glu398=)
c.942A= (p.Glu314=)
c.930A= (p.Glu310=)
15g.42777232T>ACA392016321TTBK2c.1208A>T (p.Glu403Val)
c.1103A>T (p.Glu368Val)
c.2423A>T (p.Glu808Val)
c.1226A>T (p.Glu409Val)
c.1001A>T (p.Glu334Val)
c.1193A>T (p.Glu398Val)
c.941A>T (p.Glu314Val)
c.929A>T (p.Glu310Val)
15g.42777232T>CCA392016325TTBK2c.1208A>G (p.Glu403Gly)
c.1103A>G (p.Glu368Gly)
c.2423A>G (p.Glu808Gly)
c.1226A>G (p.Glu409Gly)
c.1001A>G (p.Glu334Gly)
c.1193A>G (p.Glu398Gly)
c.941A>G (p.Glu314Gly)
c.929A>G (p.Glu310Gly)
15g.42777232T>GCA392016328TTBK2c.1208A>C (p.Glu403Ala)
c.1103A>C (p.Glu368Ala)
c.2423A>C (p.Glu808Ala)
c.1226A>C (p.Glu409Ala)
c.1001A>C (p.Glu334Ala)
c.1193A>C (p.Glu398Ala)
c.941A>C (p.Glu314Ala)
c.929A>C (p.Glu310Ala)
15g.42777233C>ACA392016336TTBK2c.1207G>T (p.Glu403Ter)
c.1102G>T (p.Glu368Ter)
c.2422G>T (p.Glu808Ter)
c.1225G>T (p.Glu409Ter)
c.1000G>T (p.Glu334Ter)
c.1192G>T (p.Glu398Ter)
c.940G>T (p.Glu314Ter)
c.928G>T (p.Glu310Ter)
15g.42777233C=CA2172895469TTBK2c.1207G= (p.Glu403=)
c.1102G= (p.Glu368=)
c.2422G= (p.Glu808=)
c.1225G= (p.Glu409=)
c.1000G= (p.Glu334=)
c.1192G= (p.Glu398=)
c.940G= (p.Glu314=)
c.928G= (p.Glu310=)
15g.42777233C>GCA392016343TTBK2c.1207G>C (p.Glu403Gln)
c.1102G>C (p.Glu368Gln)
c.2422G>C (p.Glu808Gln)
c.1225G>C (p.Glu409Gln)
c.1000G>C (p.Glu334Gln)
c.1192G>C (p.Glu398Gln)
c.940G>C (p.Glu314Gln)
c.928G>C (p.Glu310Gln)
15g.42777233C>TCA392016345TTBK2c.1207G>A (p.Glu403Lys)
c.1102G>A (p.Glu368Lys)
c.2422G>A (p.Glu808Lys)
c.1225G>A (p.Glu409Lys)
c.1000G>A (p.Glu334Lys)
c.1192G>A (p.Glu398Lys)
c.940G>A (p.Glu314Lys)
c.928G>A (p.Glu310Lys)
 dbSNP gnomAD v3 gnomAD v4
15g.42777233_42777235delinsTCA2695220037TTBK2c.1205_1207delinsA (p.Thr402LysfsTer?)
c.1100_1102delinsA (p.Thr367LysfsTer?)
c.2420_2422delinsA (p.Thr807LysfsTer?)
c.1223_1225delinsA (p.Thr408LysfsTer?)
c.998_1000delinsA (p.Thr333LysfsTer?)
c.1190_1192delinsA (p.Thr397LysfsTer?)
c.938_940delinsA (p.Thr313LysfsTer?)
c.926_928delinsA (p.Thr309LysfsTer?)
15g.42777234A>CCA489893045TTBK2c.1206T>G (p.Thr402=)
c.1101T>G (p.Thr367=)
c.2421T>G (p.Thr807=)
c.1224T>G (p.Thr408=)
c.999T>G (p.Thr333=)
c.1191T>G (p.Thr397=)
c.939T>G (p.Thr313=)
c.927T>G (p.Thr309=)
15g.42777234A>GCA489893046TTBK2c.1206T>C (p.Thr402=)
c.1101T>C (p.Thr367=)
c.2421T>C (p.Thr807=)
c.1224T>C (p.Thr408=)
c.999T>C (p.Thr333=)
c.1191T>C (p.Thr397=)
c.939T>C (p.Thr313=)
c.927T>C (p.Thr309=)
 gnomAD v4
15g.42777234A>TCA489893047TTBK2c.1206T>A (p.Thr402=)
c.1101T>A (p.Thr367=)
c.2421T>A (p.Thr807=)
c.1224T>A (p.Thr408=)
c.999T>A (p.Thr333=)
c.1191T>A (p.Thr397=)
c.939T>A (p.Thr313=)
c.927T>A (p.Thr309=)
15g.42777235G>ACA392016356TTBK2c.1205C>T (p.Thr402Ile)
c.1100C>T (p.Thr367Ile)
c.2420C>T (p.Thr807Ile)
c.1223C>T (p.Thr408Ile)
c.998C>T (p.Thr333Ile)
c.1190C>T (p.Thr397Ile)
c.938C>T (p.Thr313Ile)
c.926C>T (p.Thr309Ile)
15g.42777235G>CCA392016358TTBK2c.1205C>G (p.Thr402Ser)
c.1100C>G (p.Thr367Ser)
c.2420C>G (p.Thr807Ser)
c.1223C>G (p.Thr408Ser)
c.998C>G (p.Thr333Ser)
c.1190C>G (p.Thr397Ser)
c.938C>G (p.Thr313Ser)
c.926C>G (p.Thr309Ser)
15g.42777235G>TCA392016359TTBK2c.1205C>A (p.Thr402Asn)
c.1100C>A (p.Thr367Asn)
c.2420C>A (p.Thr807Asn)
c.1223C>A (p.Thr408Asn)
c.998C>A (p.Thr333Asn)
c.1190C>A (p.Thr397Asn)
c.938C>A (p.Thr313Asn)
c.926C>A (p.Thr309Asn)
15g.42777236T>ACA392016363TTBK2c.1204A>T (p.Thr402Ser)
c.1099A>T (p.Thr367Ser)
c.2419A>T (p.Thr807Ser)
c.1222A>T (p.Thr408Ser)
c.997A>T (p.Thr333Ser)
c.1189A>T (p.Thr397Ser)
c.937A>T (p.Thr313Ser)
c.925A>T (p.Thr309Ser)
15g.42777236T>CCA392016365TTBK2c.1204A>G (p.Thr402Ala)
c.1099A>G (p.Thr367Ala)
c.2419A>G (p.Thr807Ala)
c.1222A>G (p.Thr408Ala)
c.997A>G (p.Thr333Ala)
c.1189A>G (p.Thr397Ala)
c.937A>G (p.Thr313Ala)
c.925A>G (p.Thr309Ala)
15g.42777236T>GCA392016368TTBK2c.1204A>C (p.Thr402Pro)
c.1099A>C (p.Thr367Pro)
c.2419A>C (p.Thr807Pro)
c.1222A>C (p.Thr408Pro)
c.997A>C (p.Thr333Pro)
c.1189A>C (p.Thr397Pro)
c.937A>C (p.Thr313Pro)
c.925A>C (p.Thr309Pro)
15g.42777237A=CA2172895472TTBK2c.1203T= (p.Ala401=)
c.1098T= (p.Ala366=)
c.2418T= (p.Ala806=)
c.1221T= (p.Ala407=)
c.996T= (p.Ala332=)
c.1188T= (p.Ala396=)
c.936T= (p.Ala312=)
c.924T= (p.Ala308=)
15g.42777237A>CCA489893049TTBK2c.1203T>G (p.Ala401=)
c.1098T>G (p.Ala366=)
c.2418T>G (p.Ala806=)
c.1221T>G (p.Ala407=)
c.996T>G (p.Ala332=)
c.1188T>G (p.Ala396=)
c.936T>G (p.Ala312=)
c.924T>G (p.Ala308=)
15g.42777237A>GCA489893051TTBK2c.1203T>C (p.Ala401=)
c.1098T>C (p.Ala366=)
c.2418T>C (p.Ala806=)
c.1221T>C (p.Ala407=)
c.996T>C (p.Ala332=)
c.1188T>C (p.Ala396=)
c.936T>C (p.Ala312=)
c.924T>C (p.Ala308=)
 dbSNP gnomAD v3 gnomAD v4
15g.42777237A>TCA489893050TTBK2c.1203T>A (p.Ala401=)
c.1098T>A (p.Ala366=)
c.2418T>A (p.Ala806=)
c.1221T>A (p.Ala407=)
c.996T>A (p.Ala332=)
c.1188T>A (p.Ala396=)
c.936T>A (p.Ala312=)
c.924T>A (p.Ala308=)
15g.42777238G>ACA7516939TTBK2c.1202C>T (p.Ala401Val)
c.1097C>T (p.Ala366Val)
c.2417C>T (p.Ala806Val)
c.1220C>T (p.Ala407Val)
c.995C>T (p.Ala332Val)
c.1187C>T (p.Ala396Val)
c.935C>T (p.Ala312Val)
c.923C>T (p.Ala308Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777238G>CCA392016384TTBK2c.1202C>G (p.Ala401Gly)
c.1097C>G (p.Ala366Gly)
c.2417C>G (p.Ala806Gly)
c.1220C>G (p.Ala407Gly)
c.995C>G (p.Ala332Gly)
c.1187C>G (p.Ala396Gly)
c.935C>G (p.Ala312Gly)
c.923C>G (p.Ala308Gly)
15g.42777238G=CA2172895479TTBK2c.1202C= (p.Ala401=)
c.1097C= (p.Ala366=)
c.2417C= (p.Ala806=)
c.1220C= (p.Ala407=)
c.995C= (p.Ala332=)
c.1187C= (p.Ala396=)
c.935C= (p.Ala312=)
c.923C= (p.Ala308=)
15g.42777238G>TCA392016379TTBK2c.1202C>A (p.Ala401Asp)
c.1097C>A (p.Ala366Asp)
c.2417C>A (p.Ala806Asp)
c.1220C>A (p.Ala407Asp)
c.995C>A (p.Ala332Asp)
c.1187C>A (p.Ala396Asp)
c.935C>A (p.Ala312Asp)
c.923C>A (p.Ala308Asp)
15g.42777239C>ACA392016398TTBK2c.1201G>T (p.Ala401Ser)
c.1096G>T (p.Ala366Ser)
c.2416G>T (p.Ala806Ser)
c.1219G>T (p.Ala407Ser)
c.994G>T (p.Ala332Ser)
c.1186G>T (p.Ala396Ser)
c.934G>T (p.Ala312Ser)
c.922G>T (p.Ala308Ser)
15g.42777239C=CA2172895482TTBK2c.1201G= (p.Ala401=)
c.1096G= (p.Ala366=)
c.2416G= (p.Ala806=)
c.1219G= (p.Ala407=)
c.994G= (p.Ala332=)
c.1186G= (p.Ala396=)
c.934G= (p.Ala312=)
c.922G= (p.Ala308=)
15g.42777239C>GCA7516940TTBK2c.1201G>C (p.Ala401Pro)
c.1096G>C (p.Ala366Pro)
c.2416G>C (p.Ala806Pro)
c.1219G>C (p.Ala407Pro)
c.994G>C (p.Ala332Pro)
c.1186G>C (p.Ala396Pro)
c.934G>C (p.Ala312Pro)
c.922G>C (p.Ala308Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777239C>TCA392016402TTBK2c.1201G>A (p.Ala401Thr)
c.1096G>A (p.Ala366Thr)
c.2416G>A (p.Ala806Thr)
c.1219G>A (p.Ala407Thr)
c.994G>A (p.Ala332Thr)
c.1186G>A (p.Ala396Thr)
c.934G>A (p.Ala312Thr)
c.922G>A (p.Ala308Thr)
 gnomAD v4
15g.42777240A>CCA489893052TTBK2c.1200T>G (p.Ala400=)
c.1095T>G (p.Ala365=)
c.2415T>G (p.Ala805=)
c.1218T>G (p.Ala406=)
c.993T>G (p.Ala331=)
c.1185T>G (p.Ala395=)
c.933T>G (p.Ala311=)
c.921T>G (p.Ala307=)
15g.42777240A>GCA489893054TTBK2c.1200T>C (p.Ala400=)
c.1095T>C (p.Ala365=)
c.2415T>C (p.Ala805=)
c.1218T>C (p.Ala406=)
c.993T>C (p.Ala331=)
c.1185T>C (p.Ala395=)
c.933T>C (p.Ala311=)
c.921T>C (p.Ala307=)
 ClinVar
15g.42777240A>TCA489893053TTBK2c.1200T>A (p.Ala400=)
c.1095T>A (p.Ala365=)
c.2415T>A (p.Ala805=)
c.1218T>A (p.Ala406=)
c.993T>A (p.Ala331=)
c.1185T>A (p.Ala395=)
c.933T>A (p.Ala311=)
c.921T>A (p.Ala307=)
15g.42777241G>ACA392016408TTBK2c.1199C>T (p.Ala400Val)
c.1094C>T (p.Ala365Val)
c.2414C>T (p.Ala805Val)
c.1217C>T (p.Ala406Val)
c.992C>T (p.Ala331Val)
c.1184C>T (p.Ala395Val)
c.932C>T (p.Ala311Val)
c.920C>T (p.Ala307Val)
15g.42777241G>CCA392016409TTBK2c.1199C>G (p.Ala400Gly)
c.1094C>G (p.Ala365Gly)
c.2414C>G (p.Ala805Gly)
c.1217C>G (p.Ala406Gly)
c.992C>G (p.Ala331Gly)
c.1184C>G (p.Ala395Gly)
c.932C>G (p.Ala311Gly)
c.920C>G (p.Ala307Gly)
15g.42777241G>TCA392016410TTBK2c.1199C>A (p.Ala400Asp)
c.1094C>A (p.Ala365Asp)
c.2414C>A (p.Ala805Asp)
c.1217C>A (p.Ala406Asp)
c.992C>A (p.Ala331Asp)
c.1184C>A (p.Ala395Asp)
c.932C>A (p.Ala311Asp)
c.920C>A (p.Ala307Asp)
15g.42777242C>ACA392016422TTBK2c.1198G>T (p.Ala400Ser)
c.1093G>T (p.Ala365Ser)
c.2413G>T (p.Ala805Ser)
c.1216G>T (p.Ala406Ser)
c.991G>T (p.Ala331Ser)
c.1183G>T (p.Ala395Ser)
c.931G>T (p.Ala311Ser)
c.919G>T (p.Ala307Ser)
15g.42777242C>GCA392016442TTBK2c.1198G>C (p.Ala400Pro)
c.1093G>C (p.Ala365Pro)
c.2413G>C (p.Ala805Pro)
c.1216G>C (p.Ala406Pro)
c.991G>C (p.Ala331Pro)
c.1183G>C (p.Ala395Pro)
c.931G>C (p.Ala311Pro)
c.919G>C (p.Ala307Pro)
15g.42777242C>TCA392016461TTBK2c.1198G>A (p.Ala400Thr)
c.1093G>A (p.Ala365Thr)
c.2413G>A (p.Ala805Thr)
c.1216G>A (p.Ala406Thr)
c.991G>A (p.Ala331Thr)
c.1183G>A (p.Ala395Thr)
c.931G>A (p.Ala311Thr)
c.919G>A (p.Ala307Thr)
 gnomAD v4
15g.42777243C>ACA392016466TTBK2c.1198-1G>T (n.1198-1G>T)
c.1093-1G>T (n.1093-1G>T)
c.2413-1G>T (n.2413-1G>T)
c.1216-1G>T (n.1216-1G>T)
c.991-1G>T (n.991-1G>T)
c.1183-1G>T (n.1183-1G>T)
c.931-1G>T (n.931-1G>T)
c.919-1G>T (n.919-1G>T)
15g.42777243C=CA2172895486TTBK2c.1198-1G= (n.1198-1G=)
c.1093-1G= (n.1093-1G=)
c.2413-1G= (n.2413-1G=)
c.1216-1G= (n.1216-1G=)
c.991-1G= (n.991-1G=)
c.1183-1G= (n.1183-1G=)
c.931-1G= (n.931-1G=)
c.919-1G= (n.919-1G=)
15g.42777243C>GCA392016470TTBK2c.1198-1G>C (n.1198-1G>C)
c.1093-1G>C (n.1093-1G>C)
c.2413-1G>C (n.2413-1G>C)
c.1216-1G>C (n.1216-1G>C)
c.991-1G>C (n.991-1G>C)
c.1183-1G>C (n.1183-1G>C)
c.931-1G>C (n.931-1G>C)
c.919-1G>C (n.919-1G>C)
 dbSNP gnomAD v3 gnomAD v4
15g.42777243C>TCA392016473TTBK2c.1198-1G>A (n.1198-1G>A)
c.1093-1G>A (n.1093-1G>A)
c.2413-1G>A (n.2413-1G>A)
c.1216-1G>A (n.1216-1G>A)
c.991-1G>A (n.991-1G>A)
c.1183-1G>A (n.1183-1G>A)
c.931-1G>A (n.931-1G>A)
c.919-1G>A (n.919-1G>A)
15g.42777244T>ACA392016474TTBK2c.1198-2A>T (n.1198-2A>T)
c.1093-2A>T (n.1093-2A>T)
c.2413-2A>T (n.2413-2A>T)
c.1216-2A>T (n.1216-2A>T)
c.991-2A>T (n.991-2A>T)
c.1183-2A>T (n.1183-2A>T)
c.931-2A>T (n.931-2A>T)
c.919-2A>T (n.919-2A>T)
15g.42777244T>CCA392016475TTBK2c.1198-2A>G (n.1198-2A>G)
c.1093-2A>G (n.1093-2A>G)
c.2413-2A>G (n.2413-2A>G)
c.1216-2A>G (n.1216-2A>G)
c.991-2A>G (n.991-2A>G)
c.1183-2A>G (n.1183-2A>G)
c.931-2A>G (n.931-2A>G)
c.919-2A>G (n.919-2A>G)
15g.42777244T>GCA392016478TTBK2c.1198-2A>C (n.1198-2A>C)
c.1093-2A>C (n.1093-2A>C)
c.2413-2A>C (n.2413-2A>C)
c.1216-2A>C (n.1216-2A>C)
c.991-2A>C (n.991-2A>C)
c.1183-2A>C (n.1183-2A>C)
c.931-2A>C (n.931-2A>C)
c.919-2A>C (n.919-2A>C)
15g.42777245A=CA2172895490TTBK2c.1198-3T= (n.1198-3T=)
c.1093-3T= (n.1093-3T=)
c.2413-3T= (n.2413-3T=)
c.1216-3T= (n.1216-3T=)
c.991-3T= (n.991-3T=)
c.1183-3T= (n.1183-3T=)
c.931-3T= (n.931-3T=)
c.919-3T= (n.919-3T=)
15g.42777245A>GCA2172895491TTBK2c.1198-3T>C (n.1198-3T>C)
c.1093-3T>C (n.1093-3T>C)
c.2413-3T>C (n.2413-3T>C)
c.1216-3T>C (n.1216-3T>C)
c.991-3T>C (n.991-3T>C)
c.1183-3T>C (n.1183-3T>C)
c.931-3T>C (n.931-3T>C)
c.919-3T>C (n.919-3T>C)
 dbSNP gnomAD v4
15g.42777246T>ACA712934186TTBK2c.1198-4A>T (n.1198-4A>T)
c.1093-4A>T (n.1093-4A>T)
c.2413-4A>T (n.2413-4A>T)
c.1216-4A>T (n.1216-4A>T)
c.991-4A>T (n.991-4A>T)
c.1183-4A>T (n.1183-4A>T)
c.931-4A>T (n.931-4A>T)
c.919-4A>T (n.919-4A>T)
 dbSNP gnomAD v4
15g.42777246T>CCA2628071486TTBK2c.1198-4A>G (n.1198-4A>G)
c.1093-4A>G (n.1093-4A>G)
c.2413-4A>G (n.2413-4A>G)
c.1216-4A>G (n.1216-4A>G)
c.991-4A>G (n.991-4A>G)
c.1183-4A>G (n.1183-4A>G)
c.931-4A>G (n.931-4A>G)
c.919-4A>G (n.919-4A>G)
 gnomAD v4
15g.42777246T=CA2172895493TTBK2c.1198-4A= (n.1198-4A=)
c.1093-4A= (n.1093-4A=)
c.2413-4A= (n.2413-4A=)
c.1216-4A= (n.1216-4A=)
c.991-4A= (n.991-4A=)
c.1183-4A= (n.1183-4A=)
c.931-4A= (n.931-4A=)
c.919-4A= (n.919-4A=)
15g.42777247C>ACA2628071487TTBK2c.1198-5G>T (n.1198-5G>T)
c.1093-5G>T (n.1093-5G>T)
c.2413-5G>T (n.2413-5G>T)
c.1216-5G>T (n.1216-5G>T)
c.991-5G>T (n.991-5G>T)
c.1183-5G>T (n.1183-5G>T)
c.931-5G>T (n.931-5G>T)
c.919-5G>T (n.919-5G>T)
 gnomAD v4
15g.42777249A>GCA2628071488TTBK2c.1198-7T>C (n.1198-7T>C)
c.1093-7T>C (n.1093-7T>C)
c.2413-7T>C (n.2413-7T>C)
c.1216-7T>C (n.1216-7T>C)
c.991-7T>C (n.991-7T>C)
c.1183-7T>C (n.1183-7T>C)
c.931-7T>C (n.931-7T>C)
c.919-7T>C (n.919-7T>C)
 gnomAD v4
15g.42777252A>GCA2628071489TTBK2c.1198-10T>C (n.1198-10T>C)
c.1093-10T>C (n.1093-10T>C)
c.2413-10T>C (n.2413-10T>C)
c.1216-10T>C (n.1216-10T>C)
c.991-10T>C (n.991-10T>C)
c.1183-10T>C (n.1183-10T>C)
c.931-10T>C (n.931-10T>C)
c.919-10T>C (n.919-10T>C)
 gnomAD v4
15g.42777253T>CCA2628071490TTBK2c.1198-11A>G (n.1198-11A>G)
c.1093-11A>G (n.1093-11A>G)
c.2413-11A>G (n.2413-11A>G)
c.1216-11A>G (n.1216-11A>G)
c.991-11A>G (n.991-11A>G)
c.1183-11A>G (n.1183-11A>G)
c.931-11A>G (n.931-11A>G)
c.919-11A>G (n.919-11A>G)
 gnomAD v4
15g.42777255T>ACA269889082TTBK2c.1198-13A>T (n.1198-13A>T)
c.1093-13A>T (n.1093-13A>T)
c.2413-13A>T (n.2413-13A>T)
c.1216-13A>T (n.1216-13A>T)
c.991-13A>T (n.991-13A>T)
c.1183-13A>T (n.1183-13A>T)
c.931-13A>T (n.931-13A>T)
c.919-13A>T (n.919-13A>T)
 dbSNP
15g.42777255T>CCA269889088TTBK2c.1198-13A>G (n.1198-13A>G)
c.1093-13A>G (n.1093-13A>G)
c.2413-13A>G (n.2413-13A>G)
c.1216-13A>G (n.1216-13A>G)
c.991-13A>G (n.991-13A>G)
c.1183-13A>G (n.1183-13A>G)
c.931-13A>G (n.931-13A>G)
c.919-13A>G (n.919-13A>G)
 dbSNP gnomAD v4
15g.42777255T>GCA2172895498TTBK2c.1198-13A>C (n.1198-13A>C)
c.1093-13A>C (n.1093-13A>C)
c.2413-13A>C (n.2413-13A>C)
c.1216-13A>C (n.1216-13A>C)
c.991-13A>C (n.991-13A>C)
c.1183-13A>C (n.1183-13A>C)
c.931-13A>C (n.931-13A>C)
c.919-13A>C (n.919-13A>C)
 dbSNP gnomAD v4
15g.42777255T=CA2172895496TTBK2c.1198-13A= (n.1198-13A=)
c.1093-13A= (n.1093-13A=)
c.2413-13A= (n.2413-13A=)
c.1216-13A= (n.1216-13A=)
c.991-13A= (n.991-13A=)
c.1183-13A= (n.1183-13A=)
c.931-13A= (n.931-13A=)
c.919-13A= (n.919-13A=)
15g.42777260T>CCA269889093TTBK2c.1198-18A>G (n.1198-18A>G)
c.1093-18A>G (n.1093-18A>G)
c.2413-18A>G (n.2413-18A>G)
c.1216-18A>G (n.1216-18A>G)
c.991-18A>G (n.991-18A>G)
c.1183-18A>G (n.1183-18A>G)
c.931-18A>G (n.931-18A>G)
c.919-18A>G (n.919-18A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42777260T>GCA2628071491TTBK2c.1198-18A>C (n.1198-18A>C)
c.1093-18A>C (n.1093-18A>C)
c.2413-18A>C (n.2413-18A>C)
c.1216-18A>C (n.1216-18A>C)
c.991-18A>C (n.991-18A>C)
c.1183-18A>C (n.1183-18A>C)
c.931-18A>C (n.931-18A>C)
c.919-18A>C (n.919-18A>C)
 gnomAD v4
15g.42777260T=CA2172895503TTBK2c.1198-18A= (n.1198-18A=)
c.1093-18A= (n.1093-18A=)
c.2413-18A= (n.2413-18A=)
c.1216-18A= (n.1216-18A=)
c.991-18A= (n.991-18A=)
c.1183-18A= (n.1183-18A=)
c.931-18A= (n.931-18A=)
c.919-18A= (n.919-18A=)
15g.42777261A>CCA2575698940TTBK2c.1198-19T>G (n.1198-19T>G)
c.1093-19T>G (n.1093-19T>G)
c.2413-19T>G (n.2413-19T>G)
c.1216-19T>G (n.1216-19T>G)
c.991-19T>G (n.991-19T>G)
c.1183-19T>G (n.1183-19T>G)
c.931-19T>G (n.931-19T>G)
c.919-19T>G (n.919-19T>G)
15g.42777263_42777266delinsAATCCA2172895504TTBK2c.1198-24_1198-21delinsGATT (n.1198-24_1198-21delinsGATT)
c.1093-24_1093-21delinsGATT (n.1093-24_1093-21delinsGATT)
c.2413-24_2413-21delinsGATT (n.2413-24_2413-21delinsGATT)
c.1216-24_1216-21delinsGATT (n.1216-24_1216-21delinsGATT)
c.991-24_991-21delinsGATT (n.991-24_991-21delinsGATT)
c.1183-24_1183-21delinsGATT (n.1183-24_1183-21delinsGATT)
c.931-24_931-21delinsGATT (n.931-24_931-21delinsGATT)
c.919-24_919-21delinsGATT (n.919-24_919-21delinsGATT)

Number of alleles fetched