Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.42777155_42777156delCA339837TTBK2c.1287_1288del (p.Glu429AspfsTer21)
c.1182_1183del (p.Glu394AspfsTer21)
c.2502_2503del (p.Glu834AspfsTer21)
c.1305_1306del (p.Glu435AspfsTer21)
c.1080_1081del (p.Glu360AspfsTer21)
c.1272_1273del (p.Glu424AspfsTer21)
c.1020_1021del (p.Glu340AspfsTer21)
c.1008_1009del (p.Glu336AspfsTer21)
 ClinVar dbSNP
15g.42777155C>ACA392015603TTBK2c.1285G>T (p.Glu429Ter)
c.1180G>T (p.Glu394Ter)
c.2500G>T (p.Glu834Ter)
c.1303G>T (p.Glu435Ter)
c.1078G>T (p.Glu360Ter)
c.1270G>T (p.Glu424Ter)
c.1018G>T (p.Glu340Ter)
c.1006G>T (p.Glu336Ter)
15g.42777155C=CA2172895334TTBK2c.1285G= (p.Glu429=)
c.1180G= (p.Glu394=)
c.2500G= (p.Glu834=)
c.1303G= (p.Glu435=)
c.1078G= (p.Glu360=)
c.1270G= (p.Glu424=)
c.1018G= (p.Glu340=)
c.1006G= (p.Glu336=)
15g.42777155C>GCA392015605TTBK2c.1285G>C (p.Glu429Gln)
c.1180G>C (p.Glu394Gln)
c.2500G>C (p.Glu834Gln)
c.1303G>C (p.Glu435Gln)
c.1078G>C (p.Glu360Gln)
c.1270G>C (p.Glu424Gln)
c.1018G>C (p.Glu340Gln)
c.1006G>C (p.Glu336Gln)
 dbSNP gnomAD v4
15g.42777155C>TCA392015607TTBK2c.1285G>A (p.Glu429Lys)
c.1180G>A (p.Glu394Lys)
c.2500G>A (p.Glu834Lys)
c.1303G>A (p.Glu435Lys)
c.1078G>A (p.Glu360Lys)
c.1270G>A (p.Glu424Lys)
c.1018G>A (p.Glu340Lys)
c.1006G>A (p.Glu336Lys)
 dbSNP gnomAD v4
15g.42777156T>ACA489892991TTBK2c.1284A>T (p.Ser428=)
c.1179A>T (p.Ser393=)
c.2499A>T (p.Ser833=)
c.1302A>T (p.Ser434=)
c.1077A>T (p.Ser359=)
c.1269A>T (p.Ser423=)
c.1017A>T (p.Ser339=)
c.1005A>T (p.Ser335=)
15g.42777156T>CCA489892992TTBK2c.1284A>G (p.Ser428=)
c.1179A>G (p.Ser393=)
c.2499A>G (p.Ser833=)
c.1302A>G (p.Ser434=)
c.1077A>G (p.Ser359=)
c.1269A>G (p.Ser423=)
c.1017A>G (p.Ser339=)
c.1005A>G (p.Ser335=)
15g.42777156T>GCA489892993TTBK2c.1284A>C (p.Ser428=)
c.1179A>C (p.Ser393=)
c.2499A>C (p.Ser833=)
c.1302A>C (p.Ser434=)
c.1077A>C (p.Ser359=)
c.1269A>C (p.Ser423=)
c.1017A>C (p.Ser339=)
c.1005A>C (p.Ser335=)
15g.42777157G>ACA392015616TTBK2c.1283C>T (p.Ser428Leu)
c.1178C>T (p.Ser393Leu)
c.2498C>T (p.Ser833Leu)
c.1301C>T (p.Ser434Leu)
c.1076C>T (p.Ser359Leu)
c.1268C>T (p.Ser423Leu)
c.1016C>T (p.Ser339Leu)
c.1004C>T (p.Ser335Leu)
 gnomAD v4
15g.42777157G>CCA392015614TTBK2c.1283C>G (p.Ser428Ter)
c.1178C>G (p.Ser393Ter)
c.2498C>G (p.Ser833Ter)
c.1301C>G (p.Ser434Ter)
c.1076C>G (p.Ser359Ter)
c.1268C>G (p.Ser423Ter)
c.1016C>G (p.Ser339Ter)
c.1004C>G (p.Ser335Ter)
15g.42777157G>TCA392015612TTBK2c.1283C>A (p.Ser428Ter)
c.1178C>A (p.Ser393Ter)
c.2498C>A (p.Ser833Ter)
c.1301C>A (p.Ser434Ter)
c.1076C>A (p.Ser359Ter)
c.1268C>A (p.Ser423Ter)
c.1016C>A (p.Ser339Ter)
c.1004C>A (p.Ser335Ter)
15g.42777158A>CCA392015620TTBK2c.1282T>G (p.Ser428Ala)
c.1177T>G (p.Ser393Ala)
c.2497T>G (p.Ser833Ala)
c.1300T>G (p.Ser434Ala)
c.1075T>G (p.Ser359Ala)
c.1267T>G (p.Ser423Ala)
c.1015T>G (p.Ser339Ala)
c.1003T>G (p.Ser335Ala)
15g.42777158A>GCA392015622TTBK2c.1282T>C (p.Ser428Pro)
c.1177T>C (p.Ser393Pro)
c.2497T>C (p.Ser833Pro)
c.1300T>C (p.Ser434Pro)
c.1075T>C (p.Ser359Pro)
c.1267T>C (p.Ser423Pro)
c.1015T>C (p.Ser339Pro)
c.1003T>C (p.Ser335Pro)
15g.42777158A>TCA392015626TTBK2c.1282T>A (p.Ser428Thr)
c.1177T>A (p.Ser393Thr)
c.2497T>A (p.Ser833Thr)
c.1300T>A (p.Ser434Thr)
c.1075T>A (p.Ser359Thr)
c.1267T>A (p.Ser423Thr)
c.1015T>A (p.Ser339Thr)
c.1003T>A (p.Ser335Thr)
15g.42777159G>ACA489892996TTBK2c.1281C>T (p.Arg427=)
c.1176C>T (p.Arg392=)
c.2496C>T (p.Arg832=)
c.1299C>T (p.Arg433=)
c.1074C>T (p.Arg358=)
c.1266C>T (p.Arg422=)
c.1014C>T (p.Arg338=)
c.1002C>T (p.Arg334=)
15g.42777159G>CCA489892994TTBK2c.1281C>G (p.Arg427=)
c.1176C>G (p.Arg392=)
c.2496C>G (p.Arg832=)
c.1299C>G (p.Arg433=)
c.1074C>G (p.Arg358=)
c.1266C>G (p.Arg422=)
c.1014C>G (p.Arg338=)
c.1002C>G (p.Arg334=)
15g.42777159G>TCA489892995TTBK2c.1281C>A (p.Arg427=)
c.1176C>A (p.Arg392=)
c.2496C>A (p.Arg832=)
c.1299C>A (p.Arg433=)
c.1074C>A (p.Arg358=)
c.1266C>A (p.Arg422=)
c.1014C>A (p.Arg338=)
c.1002C>A (p.Arg334=)
15g.42777160C>ACA392015631TTBK2c.1280G>T (p.Arg427Leu)
c.1175G>T (p.Arg392Leu)
c.2495G>T (p.Arg832Leu)
c.1298G>T (p.Arg433Leu)
c.1073G>T (p.Arg358Leu)
c.1265G>T (p.Arg422Leu)
c.1013G>T (p.Arg338Leu)
c.1001G>T (p.Arg334Leu)
 dbSNP gnomAD v4
15g.42777160C=CA2172895336TTBK2c.1280G= (p.Arg427=)
c.1175G= (p.Arg392=)
c.2495G= (p.Arg832=)
c.1298G= (p.Arg433=)
c.1073G= (p.Arg358=)
c.1265G= (p.Arg422=)
c.1013G= (p.Arg338=)
c.1001G= (p.Arg334=)
15g.42777160C>GCA392015635TTBK2c.1280G>C (p.Arg427Pro)
c.1175G>C (p.Arg392Pro)
c.2495G>C (p.Arg832Pro)
c.1298G>C (p.Arg433Pro)
c.1073G>C (p.Arg358Pro)
c.1265G>C (p.Arg422Pro)
c.1013G>C (p.Arg338Pro)
c.1001G>C (p.Arg334Pro)
15g.42777160C>TCA7516920TTBK2c.1280G>A (p.Arg427His)
c.1175G>A (p.Arg392His)
c.2495G>A (p.Arg832His)
c.1298G>A (p.Arg433His)
c.1073G>A (p.Arg358His)
c.1265G>A (p.Arg422His)
c.1013G>A (p.Arg338His)
c.1001G>A (p.Arg334His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777161G>ACA7516921TTBK2c.1279C>T (p.Arg427Cys)
c.1174C>T (p.Arg392Cys)
c.2494C>T (p.Arg832Cys)
c.1297C>T (p.Arg433Cys)
c.1072C>T (p.Arg358Cys)
c.1264C>T (p.Arg422Cys)
c.1012C>T (p.Arg338Cys)
c.1000C>T (p.Arg334Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777161G>CCA392015642TTBK2c.1279C>G (p.Arg427Gly)
c.1174C>G (p.Arg392Gly)
c.2494C>G (p.Arg832Gly)
c.1297C>G (p.Arg433Gly)
c.1072C>G (p.Arg358Gly)
c.1264C>G (p.Arg422Gly)
c.1012C>G (p.Arg338Gly)
c.1000C>G (p.Arg334Gly)
15g.42777161G=CA2172895341TTBK2c.1279C= (p.Arg427=)
c.1174C= (p.Arg392=)
c.2494C= (p.Arg832=)
c.1297C= (p.Arg433=)
c.1072C= (p.Arg358=)
c.1264C= (p.Arg422=)
c.1012C= (p.Arg338=)
c.1000C= (p.Arg334=)
15g.42777161G>TCA392015645TTBK2c.1279C>A (p.Arg427Ser)
c.1174C>A (p.Arg392Ser)
c.2494C>A (p.Arg832Ser)
c.1297C>A (p.Arg433Ser)
c.1072C>A (p.Arg358Ser)
c.1264C>A (p.Arg422Ser)
c.1012C>A (p.Arg338Ser)
c.1000C>A (p.Arg334Ser)
15g.42777162G>ACA489892997TTBK2c.1278C>T (p.Val426=)
c.1173C>T (p.Val391=)
c.2493C>T (p.Val831=)
c.1296C>T (p.Val432=)
c.1071C>T (p.Val357=)
c.1263C>T (p.Val421=)
c.1011C>T (p.Val337=)
c.999C>T (p.Val333=)
 dbSNP gnomAD v2 gnomAD v4
15g.42777162G>CCA489892998TTBK2c.1278C>G (p.Val426=)
c.1173C>G (p.Val391=)
c.2493C>G (p.Val831=)
c.1296C>G (p.Val432=)
c.1071C>G (p.Val357=)
c.1263C>G (p.Val421=)
c.1011C>G (p.Val337=)
c.999C>G (p.Val333=)
15g.42777162G=CA2172895344TTBK2c.1278C= (p.Val426=)
c.1173C= (p.Val391=)
c.2493C= (p.Val831=)
c.1296C= (p.Val432=)
c.1071C= (p.Val357=)
c.1263C= (p.Val421=)
c.1011C= (p.Val337=)
c.999C= (p.Val333=)
15g.42777162G>TCA489892999TTBK2c.1278C>A (p.Val426=)
c.1173C>A (p.Val391=)
c.2493C>A (p.Val831=)
c.1296C>A (p.Val432=)
c.1071C>A (p.Val357=)
c.1263C>A (p.Val421=)
c.1011C>A (p.Val337=)
c.999C>A (p.Val333=)
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=)

Number of alleles fetched