Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.42777016T>A | CA392014486 | TTBK2 | c.1409+15A>T (n.1409+15A>T) c.1319A>T (p.Tyr440Phe) c.1424A>T (p.Tyr475Phe) c.2624+15A>T (n.2624+15A>T) c.1427+15A>T (n.1427+15A>T) c.1202+15A>T (n.1202+15A>T) c.1394+15A>T (n.1394+15A>T) c.1142+15A>T (n.1142+15A>T) c.1130+15A>T (n.1130+15A>T) | gnomAD v4 |
15 | g.42777016T>C | CA392014489 | TTBK2 | c.1409+15A>G (n.1409+15A>G) c.1319A>G (p.Tyr440Cys) c.1424A>G (p.Tyr475Cys) c.2624+15A>G (n.2624+15A>G) c.1427+15A>G (n.1427+15A>G) c.1202+15A>G (n.1202+15A>G) c.1394+15A>G (n.1394+15A>G) c.1142+15A>G (n.1142+15A>G) c.1130+15A>G (n.1130+15A>G) | gnomAD v4 |
15 | g.42777016T>G | CA392014490 | TTBK2 | c.1409+15A>C (n.1409+15A>C) c.1319A>C (p.Tyr440Ser) c.1424A>C (p.Tyr475Ser) c.2624+15A>C (n.2624+15A>C) c.1427+15A>C (n.1427+15A>C) c.1202+15A>C (n.1202+15A>C) c.1394+15A>C (n.1394+15A>C) c.1142+15A>C (n.1142+15A>C) c.1130+15A>C (n.1130+15A>C) | |
15 | g.42777017_42777018insGTGTA | CA2628071485 | TTBK2 | c.1409+15_1409+16insCACTA (n.1409+15_1409+16insCACTA) c.1319_1320insCACTA (p.Phe441ThrfsTer?) c.1424_1425insCACTA (p.Phe476ThrfsTer28) c.2624+15_2624+16insCACTA (n.2624+15_2624+16insCACTA) c.1427+15_1427+16insCACTA (n.1427+15_1427+16insCACTA) c.1202+15_1202+16insCACTA (n.1202+15_1202+16insCACTA) c.1394+15_1394+16insCACTA (n.1394+15_1394+16insCACTA) c.1142+15_1142+16insCACTA (n.1142+15_1142+16insCACTA) c.1130+15_1130+16insCACTA (n.1130+15_1130+16insCACTA) | gnomAD v4 |
15 | g.42777017A>C | CA392014493 | TTBK2 | c.1409+14T>G (n.1409+14T>G) c.1318T>G (p.Tyr440Asp) c.1423T>G (p.Tyr475Asp) c.2624+14T>G (n.2624+14T>G) c.1427+14T>G (n.1427+14T>G) c.1202+14T>G (n.1202+14T>G) c.1394+14T>G (n.1394+14T>G) c.1142+14T>G (n.1142+14T>G) c.1130+14T>G (n.1130+14T>G) | |
15 | g.42777017A>G | CA392014506 | TTBK2 | c.1409+14T>C (n.1409+14T>C) c.1318T>C (p.Tyr440His) c.1423T>C (p.Tyr475His) c.2624+14T>C (n.2624+14T>C) c.1427+14T>C (n.1427+14T>C) c.1202+14T>C (n.1202+14T>C) c.1394+14T>C (n.1394+14T>C) c.1142+14T>C (n.1142+14T>C) c.1130+14T>C (n.1130+14T>C) | gnomAD v4 |
15 | g.42777017A>T | CA392014507 | TTBK2 | c.1409+14T>A (n.1409+14T>A) c.1318T>A (p.Tyr440Asn) c.1423T>A (p.Tyr475Asn) c.2624+14T>A (n.2624+14T>A) c.1427+14T>A (n.1427+14T>A) c.1202+14T>A (n.1202+14T>A) c.1394+14T>A (n.1394+14T>A) c.1142+14T>A (n.1142+14T>A) c.1130+14T>A (n.1130+14T>A) | |
15 | g.42777018C= | CA2172895121 | TTBK2 | c.1409+13G= (n.1409+13G=) c.1317G= (p.Val439=) c.1422G= (p.Val474=) c.2624+13G= (n.2624+13G=) c.1427+13G= (n.1427+13G=) c.1202+13G= (n.1202+13G=) c.1394+13G= (n.1394+13G=) c.1142+13G= (n.1142+13G=) c.1130+13G= (n.1130+13G=) | |
15 | g.42777018C>T | CA2172895122 | TTBK2 | c.1409+13G>A (n.1409+13G>A) c.1317G>A (p.Val439=) c.1422G>A (p.Val474=) c.2624+13G>A (n.2624+13G>A) c.1427+13G>A (n.1427+13G>A) c.1202+13G>A (n.1202+13G>A) c.1394+13G>A (n.1394+13G>A) c.1142+13G>A (n.1142+13G>A) c.1130+13G>A (n.1130+13G>A) | dbSNP gnomAD v4 |
15 | g.42777019A= | CA2172895126 | TTBK2 | c.1409+12T= (n.1409+12T=) c.1316T= (p.Val439=) c.1421T= (p.Val474=) c.2624+12T= (n.2624+12T=) c.1427+12T= (n.1427+12T=) c.1202+12T= (n.1202+12T=) c.1394+12T= (n.1394+12T=) c.1142+12T= (n.1142+12T=) c.1130+12T= (n.1130+12T=) | |
15 | g.42777019A>C | CA392014513 | TTBK2 | c.1409+12T>G (n.1409+12T>G) c.1316T>G (p.Val439Gly) c.1421T>G (p.Val474Gly) c.2624+12T>G (n.2624+12T>G) c.1427+12T>G (n.1427+12T>G) c.1202+12T>G (n.1202+12T>G) c.1394+12T>G (n.1394+12T>G) c.1142+12T>G (n.1142+12T>G) c.1130+12T>G (n.1130+12T>G) | |
15 | g.42777019A>G | CA392014516 | TTBK2 | c.1409+12T>C (n.1409+12T>C) c.1316T>C (p.Val439Ala) c.1421T>C (p.Val474Ala) c.2624+12T>C (n.2624+12T>C) c.1427+12T>C (n.1427+12T>C) c.1202+12T>C (n.1202+12T>C) c.1394+12T>C (n.1394+12T>C) c.1142+12T>C (n.1142+12T>C) c.1130+12T>C (n.1130+12T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777019A>T | CA392014511 | TTBK2 | c.1409+12T>A (n.1409+12T>A) c.1316T>A (p.Val439Glu) c.1421T>A (p.Val474Glu) c.2624+12T>A (n.2624+12T>A) c.1427+12T>A (n.1427+12T>A) c.1202+12T>A (n.1202+12T>A) c.1394+12T>A (n.1394+12T>A) c.1142+12T>A (n.1142+12T>A) c.1130+12T>A (n.1130+12T>A) | gnomAD v4 |
15 | g.42777020C>A | CA392014529 | TTBK2 | c.1409+11G>T (n.1409+11G>T) c.1315G>T (p.Val439Leu) c.1420G>T (p.Val474Leu) c.2624+11G>T (n.2624+11G>T) c.1427+11G>T (n.1427+11G>T) c.1202+11G>T (n.1202+11G>T) c.1394+11G>T (n.1394+11G>T) c.1142+11G>T (n.1142+11G>T) c.1130+11G>T (n.1130+11G>T) | |
15 | g.42777020C= | CA2172895128 | TTBK2 | c.1409+11G= (n.1409+11G=) c.1315G= (p.Val439=) c.1420G= (p.Val474=) c.2624+11G= (n.2624+11G=) c.1427+11G= (n.1427+11G=) c.1202+11G= (n.1202+11G=) c.1394+11G= (n.1394+11G=) c.1142+11G= (n.1142+11G=) c.1130+11G= (n.1130+11G=) | |
15 | g.42777020C>G | CA392014519 | TTBK2 | c.1409+11G>C (n.1409+11G>C) c.1315G>C (p.Val439Leu) c.1420G>C (p.Val474Leu) c.2624+11G>C (n.2624+11G>C) c.1427+11G>C (n.1427+11G>C) c.1202+11G>C (n.1202+11G>C) c.1394+11G>C (n.1394+11G>C) c.1142+11G>C (n.1142+11G>C) c.1130+11G>C (n.1130+11G>C) | dbSNP |
15 | g.42777020C>T | CA392014524 | TTBK2 | c.1409+11G>A (n.1409+11G>A) c.1315G>A (p.Val439Met) c.1420G>A (p.Val474Met) c.2624+11G>A (n.2624+11G>A) c.1427+11G>A (n.1427+11G>A) c.1202+11G>A (n.1202+11G>A) c.1394+11G>A (n.1394+11G>A) c.1142+11G>A (n.1142+11G>A) c.1130+11G>A (n.1130+11G>A) | gnomAD v4 |
15 | g.42777021T>C | CA392014532 | TTBK2 | c.1409+10A>G (n.1409+10A>G) c.1314A>G (p.Ile438Met) c.1419A>G (p.Ile473Met) c.2624+10A>G (n.2624+10A>G) c.1427+10A>G (n.1427+10A>G) c.1202+10A>G (n.1202+10A>G) c.1394+10A>G (n.1394+10A>G) c.1142+10A>G (n.1142+10A>G) c.1130+10A>G (n.1130+10A>G) | |
15 | g.42777022A= | CA2172895131 | TTBK2 | c.1409+9T= (n.1409+9T=) c.1313T= (p.Ile438=) c.1418T= (p.Ile473=) c.2624+9T= (n.2624+9T=) c.1427+9T= (n.1427+9T=) c.1202+9T= (n.1202+9T=) c.1394+9T= (n.1394+9T=) c.1142+9T= (n.1142+9T=) c.1130+9T= (n.1130+9T=) | |
15 | g.42777022A>C | CA392014538 | TTBK2 | c.1409+9T>G (n.1409+9T>G) c.1313T>G (p.Ile438Arg) c.1418T>G (p.Ile473Arg) c.2624+9T>G (n.2624+9T>G) c.1427+9T>G (n.1427+9T>G) c.1202+9T>G (n.1202+9T>G) c.1394+9T>G (n.1394+9T>G) c.1142+9T>G (n.1142+9T>G) c.1130+9T>G (n.1130+9T>G) | |
15 | g.42777022A>G | CA392014539 | TTBK2 | c.1409+9T>C (n.1409+9T>C) c.1313T>C (p.Ile438Thr) c.1418T>C (p.Ile473Thr) c.2624+9T>C (n.2624+9T>C) c.1427+9T>C (n.1427+9T>C) c.1202+9T>C (n.1202+9T>C) c.1394+9T>C (n.1394+9T>C) c.1142+9T>C (n.1142+9T>C) c.1130+9T>C (n.1130+9T>C) | dbSNP gnomAD v4 |
15 | g.42777022A>T | CA392014541 | TTBK2 | c.1409+9T>A (n.1409+9T>A) c.1313T>A (p.Ile438Lys) c.1418T>A (p.Ile473Lys) c.2624+9T>A (n.2624+9T>A) c.1427+9T>A (n.1427+9T>A) c.1202+9T>A (n.1202+9T>A) c.1394+9T>A (n.1394+9T>A) c.1142+9T>A (n.1142+9T>A) c.1130+9T>A (n.1130+9T>A) | |
15 | g.42777023T>A | CA392014549 | TTBK2 | c.1409+8A>T (n.1409+8A>T) c.1312A>T (p.Ile438Leu) c.1417A>T (p.Ile473Leu) c.2624+8A>T (n.2624+8A>T) c.1427+8A>T (n.1427+8A>T) c.1202+8A>T (n.1202+8A>T) c.1394+8A>T (n.1394+8A>T) c.1142+8A>T (n.1142+8A>T) c.1130+8A>T (n.1130+8A>T) | |
15 | g.42777023T>C | CA392014543 | TTBK2 | c.1409+8A>G (n.1409+8A>G) c.1312A>G (p.Ile438Val) c.1417A>G (p.Ile473Val) c.2624+8A>G (n.2624+8A>G) c.1427+8A>G (n.1427+8A>G) c.1202+8A>G (n.1202+8A>G) c.1394+8A>G (n.1394+8A>G) c.1142+8A>G (n.1142+8A>G) c.1130+8A>G (n.1130+8A>G) | |
15 | g.42777023T>G | CA392014546 | TTBK2 | c.1409+8A>C (n.1409+8A>C) c.1312A>C (p.Ile438Leu) c.1417A>C (p.Ile473Leu) c.2624+8A>C (n.2624+8A>C) c.1427+8A>C (n.1427+8A>C) c.1202+8A>C (n.1202+8A>C) c.1394+8A>C (n.1394+8A>C) c.1142+8A>C (n.1142+8A>C) c.1130+8A>C (n.1130+8A>C) | |
15 | g.42777024T>A | CA392014554 | TTBK2 | c.1409+7A>T (n.1409+7A>T) c.1311A>T (p.Lys437Asn) c.1416A>T (p.Lys472Asn) c.2624+7A>T (n.2624+7A>T) c.1427+7A>T (n.1427+7A>T) c.1202+7A>T (n.1202+7A>T) c.1394+7A>T (n.1394+7A>T) c.1142+7A>T (n.1142+7A>T) c.1130+7A>T (n.1130+7A>T) | |
15 | g.42777024T>C | CA2172895135 | TTBK2 | c.1409+7A>G (n.1409+7A>G) c.1311A>G (p.Lys437=) c.1416A>G (p.Lys472=) c.2624+7A>G (n.2624+7A>G) c.1427+7A>G (n.1427+7A>G) c.1202+7A>G (n.1202+7A>G) c.1394+7A>G (n.1394+7A>G) c.1142+7A>G (n.1142+7A>G) c.1130+7A>G (n.1130+7A>G) | dbSNP |
15 | g.42777024T>G | CA392014555 | TTBK2 | c.1409+7A>C (n.1409+7A>C) c.1311A>C (p.Lys437Asn) c.1416A>C (p.Lys472Asn) c.2624+7A>C (n.2624+7A>C) c.1427+7A>C (n.1427+7A>C) c.1202+7A>C (n.1202+7A>C) c.1394+7A>C (n.1394+7A>C) c.1142+7A>C (n.1142+7A>C) c.1130+7A>C (n.1130+7A>C) | |
15 | g.42777024T= | CA2172895134 | TTBK2 | c.1409+7A= (n.1409+7A=) c.1311A= (p.Lys437=) c.1416A= (p.Lys472=) c.2624+7A= (n.2624+7A=) c.1427+7A= (n.1427+7A=) c.1202+7A= (n.1202+7A=) c.1394+7A= (n.1394+7A=) c.1142+7A= (n.1142+7A=) c.1130+7A= (n.1130+7A=) | |
15 | g.42777025T>A | CA392014561 | TTBK2 | c.1409+6A>T (n.1409+6A>T) c.1310A>T (p.Lys437Ile) c.1415A>T (p.Lys472Ile) c.2624+6A>T (n.2624+6A>T) c.1427+6A>T (n.1427+6A>T) c.1202+6A>T (n.1202+6A>T) c.1394+6A>T (n.1394+6A>T) c.1142+6A>T (n.1142+6A>T) c.1130+6A>T (n.1130+6A>T) | |
15 | g.42777025T>C | CA392014564 | TTBK2 | c.1409+6A>G (n.1409+6A>G) c.1310A>G (p.Lys437Arg) c.1415A>G (p.Lys472Arg) c.2624+6A>G (n.2624+6A>G) c.1427+6A>G (n.1427+6A>G) c.1202+6A>G (n.1202+6A>G) c.1394+6A>G (n.1394+6A>G) c.1142+6A>G (n.1142+6A>G) c.1130+6A>G (n.1130+6A>G) | gnomAD v4 |
15 | g.42777025T>G | CA392014566 | TTBK2 | c.1409+6A>C (n.1409+6A>C) c.1310A>C (p.Lys437Thr) c.1415A>C (p.Lys472Thr) c.2624+6A>C (n.2624+6A>C) c.1427+6A>C (n.1427+6A>C) c.1202+6A>C (n.1202+6A>C) c.1394+6A>C (n.1394+6A>C) c.1142+6A>C (n.1142+6A>C) c.1130+6A>C (n.1130+6A>C) | |
15 | g.42777026T>A | CA392014571 | TTBK2 | c.1409+5A>T (n.1409+5A>T) c.1309A>T (p.Lys437Ter) c.1414A>T (p.Lys472Ter) c.2624+5A>T (n.2624+5A>T) c.1427+5A>T (n.1427+5A>T) c.1202+5A>T (n.1202+5A>T) c.1394+5A>T (n.1394+5A>T) c.1142+5A>T (n.1142+5A>T) c.1130+5A>T (n.1130+5A>T) | |
15 | g.42777026T>C | CA392014575 | TTBK2 | c.1409+5A>G (n.1409+5A>G) c.1309A>G (p.Lys437Glu) c.1414A>G (p.Lys472Glu) c.2624+5A>G (n.2624+5A>G) c.1427+5A>G (n.1427+5A>G) c.1202+5A>G (n.1202+5A>G) c.1394+5A>G (n.1394+5A>G) c.1142+5A>G (n.1142+5A>G) c.1130+5A>G (n.1130+5A>G) | |
15 | g.42777026T>G | CA392014573 | TTBK2 | c.1409+5A>C (n.1409+5A>C) c.1309A>C (p.Lys437Gln) c.1414A>C (p.Lys472Gln) c.2624+5A>C (n.2624+5A>C) c.1427+5A>C (n.1427+5A>C) c.1202+5A>C (n.1202+5A>C) c.1394+5A>C (n.1394+5A>C) c.1142+5A>C (n.1142+5A>C) c.1130+5A>C (n.1130+5A>C) | |
15 | g.42777027A>C | CA392014578 | TTBK2 | c.1409+4T>G (n.1409+4T>G) c.1308T>G (p.Tyr436Ter) c.1413T>G (p.Tyr471Ter) c.2624+4T>G (n.2624+4T>G) c.1427+4T>G (n.1427+4T>G) c.1202+4T>G (n.1202+4T>G) c.1394+4T>G (n.1394+4T>G) c.1142+4T>G (n.1142+4T>G) c.1130+4T>G (n.1130+4T>G) | |
15 | g.42777027A>T | CA392014579 | TTBK2 | c.1409+4T>A (n.1409+4T>A) c.1308T>A (p.Tyr436Ter) c.1413T>A (p.Tyr471Ter) c.2624+4T>A (n.2624+4T>A) c.1427+4T>A (n.1427+4T>A) c.1202+4T>A (n.1202+4T>A) c.1394+4T>A (n.1394+4T>A) c.1142+4T>A (n.1142+4T>A) c.1130+4T>A (n.1130+4T>A) | |
15 | g.42777028T>A | CA392014585 | TTBK2 | c.1409+3A>T (n.1409+3A>T) c.1307A>T (p.Tyr436Phe) c.1412A>T (p.Tyr471Phe) c.2624+3A>T (n.2624+3A>T) c.1427+3A>T (n.1427+3A>T) c.1202+3A>T (n.1202+3A>T) c.1394+3A>T (n.1394+3A>T) c.1142+3A>T (n.1142+3A>T) c.1130+3A>T (n.1130+3A>T) | |
15 | g.42777028T>C | CA392014587 | TTBK2 | c.1409+3A>G (n.1409+3A>G) c.1307A>G (p.Tyr436Cys) c.1412A>G (p.Tyr471Cys) c.2624+3A>G (n.2624+3A>G) c.1427+3A>G (n.1427+3A>G) c.1202+3A>G (n.1202+3A>G) c.1394+3A>G (n.1394+3A>G) c.1142+3A>G (n.1142+3A>G) c.1130+3A>G (n.1130+3A>G) | |
15 | g.42777028T>G | CA392014591 | TTBK2 | c.1409+3A>C (n.1409+3A>C) c.1307A>C (p.Tyr436Ser) c.1412A>C (p.Tyr471Ser) c.2624+3A>C (n.2624+3A>C) c.1427+3A>C (n.1427+3A>C) c.1202+3A>C (n.1202+3A>C) c.1394+3A>C (n.1394+3A>C) c.1142+3A>C (n.1142+3A>C) c.1130+3A>C (n.1130+3A>C) | |
15 | g.42777028_42777030delinsTAC | CA2172895138 | TTBK2 | c.1409+1_1409+3delinsGTA (n.1409+1_1409+3delinsGTA) c.1305_1307delinsGTA (p.Trp435=) c.1410_1412delinsGTA (p.Trp470=) c.2624+1_2624+3delinsGTA (n.2624+1_2624+3delinsGTA) c.1427+1_1427+3delinsGTA (n.1427+1_1427+3delinsGTA) c.1202+1_1202+3delinsGTA (n.1202+1_1202+3delinsGTA) c.1394+1_1394+3delinsGTA (n.1394+1_1394+3delinsGTA) c.1142+1_1142+3delinsGTA (n.1142+1_1142+3delinsGTA) c.1130+1_1130+3delinsGTA (n.1130+1_1130+3delinsGTA) | |
15 | g.42777029A>C | CA392014596 | TTBK2 | c.1409+2T>G (n.1409+2T>G) c.1306T>G (p.Tyr436Asp) c.1411T>G (p.Tyr471Asp) c.2624+2T>G (n.2624+2T>G) c.1427+2T>G (n.1427+2T>G) c.1202+2T>G (n.1202+2T>G) c.1394+2T>G (n.1394+2T>G) c.1142+2T>G (n.1142+2T>G) c.1130+2T>G (n.1130+2T>G) | |
15 | g.42777029A>G | CA392014598 | TTBK2 | c.1409+2T>C (n.1409+2T>C) c.1306T>C (p.Tyr436His) c.1411T>C (p.Tyr471His) c.2624+2T>C (n.2624+2T>C) c.1427+2T>C (n.1427+2T>C) c.1202+2T>C (n.1202+2T>C) c.1394+2T>C (n.1394+2T>C) c.1142+2T>C (n.1142+2T>C) c.1130+2T>C (n.1130+2T>C) | |
15 | g.42777029A>T | CA392014600 | TTBK2 | c.1409+2T>A (n.1409+2T>A) c.1306T>A (p.Tyr436Asn) c.1411T>A (p.Tyr471Asn) c.2624+2T>A (n.2624+2T>A) c.1427+2T>A (n.1427+2T>A) c.1202+2T>A (n.1202+2T>A) c.1394+2T>A (n.1394+2T>A) c.1142+2T>A (n.1142+2T>A) c.1130+2T>A (n.1130+2T>A) | |
15 | g.42777029_42777030del | CA618002768 | TTBK2 | c.1409+1_1409+2del (n.1409+1_1409+2del) c.1305_1306del (p.Trp435Ter) c.1410_1411del (p.Trp470Ter) c.2624+1_2624+2del (n.2624+1_2624+2del) c.1427+1_1427+2del (n.1427+1_1427+2del) c.1202+1_1202+2del (n.1202+1_1202+2del) c.1394+1_1394+2del (n.1394+1_1394+2del) c.1142+1_1142+2del (n.1142+1_1142+2del) c.1130+1_1130+2del (n.1130+1_1130+2del) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777030C>A | CA392014604 | TTBK2 | c.1409+1G>T (n.1409+1G>T) c.1305G>T (p.Trp435Cys) c.1410G>T (p.Trp470Cys) c.2624+1G>T (n.2624+1G>T) c.1427+1G>T (n.1427+1G>T) c.1202+1G>T (n.1202+1G>T) c.1394+1G>T (n.1394+1G>T) c.1142+1G>T (n.1142+1G>T) c.1130+1G>T (n.1130+1G>T) | |
15 | g.42777030C>G | CA392014606 | TTBK2 | c.1409+1G>C (n.1409+1G>C) c.1305G>C (p.Trp435Cys) c.1410G>C (p.Trp470Cys) c.2624+1G>C (n.2624+1G>C) c.1427+1G>C (n.1427+1G>C) c.1202+1G>C (n.1202+1G>C) c.1394+1G>C (n.1394+1G>C) c.1142+1G>C (n.1142+1G>C) c.1130+1G>C (n.1130+1G>C) | |
15 | g.42777030C>T | CA392014608 | TTBK2 | c.1409+1G>A (n.1409+1G>A) c.1305G>A (p.Trp435Ter) c.1410G>A (p.Trp470Ter) c.2624+1G>A (n.2624+1G>A) c.1427+1G>A (n.1427+1G>A) c.1202+1G>A (n.1202+1G>A) c.1394+1G>A (n.1394+1G>A) c.1142+1G>A (n.1142+1G>A) c.1130+1G>A (n.1130+1G>A) | |
15 | g.42777031C>A | CA392014619 | TTBK2 | c.1409G>T (p.Cys470Phe) c.1304G>T (p.Trp435Leu) c.1409G>T (p.Trp470Leu) c.2624G>T (p.Cys875Phe) c.1427G>T (p.Cys476Phe) c.1202G>T (p.Cys401Phe) c.1394G>T (p.Cys465Phe) c.1142G>T (p.Cys381Phe) c.1130G>T (p.Cys377Phe) | |
15 | g.42777031C>G | CA392014615 | TTBK2 | c.1409G>C (p.Cys470Ser) c.1304G>C (p.Trp435Ser) c.1409G>C (p.Trp470Ser) c.2624G>C (p.Cys875Ser) c.1427G>C (p.Cys476Ser) c.1202G>C (p.Cys401Ser) c.1394G>C (p.Cys465Ser) c.1142G>C (p.Cys381Ser) c.1130G>C (p.Cys377Ser) | gnomAD v4 |
15 | g.42777031C>T | CA392014613 | TTBK2 | c.1409G>A (p.Cys470Tyr) c.1304G>A (p.Trp435Ter) c.1409G>A (p.Trp470Ter) c.2624G>A (p.Cys875Tyr) c.1427G>A (p.Cys476Tyr) c.1202G>A (p.Cys401Tyr) c.1394G>A (p.Cys465Tyr) c.1142G>A (p.Cys381Tyr) c.1130G>A (p.Cys377Tyr) | |
15 | g.42777032A= | CA2172895143 | TTBK2 | c.1408T= (p.Cys470=) c.1303T= (p.Trp435=) c.1408T= (p.Trp470=) c.2623T= (p.Cys875=) c.1426T= (p.Cys476=) c.1201T= (p.Cys401=) c.1393T= (p.Cys465=) c.1141T= (p.Cys381=) c.1129T= (p.Cys377=) | |
15 | g.42777032A>C | CA392014622 | TTBK2 | c.1408T>G (p.Cys470Gly) c.1303T>G (p.Trp435Gly) c.1408T>G (p.Trp470Gly) c.2623T>G (p.Cys875Gly) c.1426T>G (p.Cys476Gly) c.1201T>G (p.Cys401Gly) c.1393T>G (p.Cys465Gly) c.1141T>G (p.Cys381Gly) c.1129T>G (p.Cys377Gly) | |
15 | g.42777032A>G | CA7516901 | TTBK2 | c.1408T>C (p.Cys470Arg) c.1303T>C (p.Trp435Arg) c.1408T>C (p.Trp470Arg) c.2623T>C (p.Cys875Arg) c.1426T>C (p.Cys476Arg) c.1201T>C (p.Cys401Arg) c.1393T>C (p.Cys465Arg) c.1141T>C (p.Cys381Arg) c.1129T>C (p.Cys377Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777032A>T | CA392014627 | TTBK2 | c.1408T>A (p.Cys470Ser) c.1303T>A (p.Trp435Arg) c.1408T>A (p.Trp470Arg) c.2623T>A (p.Cys875Ser) c.1426T>A (p.Cys476Ser) c.1201T>A (p.Cys401Ser) c.1393T>A (p.Cys465Ser) c.1141T>A (p.Cys381Ser) c.1129T>A (p.Cys377Ser) | |
15 | g.42777033G>A | CA489892839 | TTBK2 | c.1407C>T (p.Thr469=) c.1302C>T (p.Thr434=) c.2622C>T (p.Thr874=) c.1425C>T (p.Thr475=) c.1200C>T (p.Thr400=) c.1392C>T (p.Thr464=) c.1140C>T (p.Thr380=) c.1128C>T (p.Thr376=) | |
15 | g.42777033G>C | CA489892840 | TTBK2 | c.1407C>G (p.Thr469=) c.1302C>G (p.Thr434=) c.2622C>G (p.Thr874=) c.1425C>G (p.Thr475=) c.1200C>G (p.Thr400=) c.1392C>G (p.Thr464=) c.1140C>G (p.Thr380=) c.1128C>G (p.Thr376=) | |
15 | g.42777033G= | CA2172895147 | TTBK2 | c.1407C= (p.Thr469=) c.1302C= (p.Thr434=) c.2622C= (p.Thr874=) c.1425C= (p.Thr475=) c.1200C= (p.Thr400=) c.1392C= (p.Thr464=) c.1140C= (p.Thr380=) c.1128C= (p.Thr376=) | |
15 | g.42777033G>T | CA7516902 | TTBK2 | c.1407C>A (p.Thr469=) c.1302C>A (p.Thr434=) c.2622C>A (p.Thr874=) c.1425C>A (p.Thr475=) c.1200C>A (p.Thr400=) c.1392C>A (p.Thr464=) c.1140C>A (p.Thr380=) c.1128C>A (p.Thr376=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777034G>A | CA392014634 | TTBK2 | c.1406C>T (p.Thr469Ile) c.1301C>T (p.Thr434Ile) c.2621C>T (p.Thr874Ile) c.1424C>T (p.Thr475Ile) c.1199C>T (p.Thr400Ile) c.1391C>T (p.Thr464Ile) c.1139C>T (p.Thr380Ile) c.1127C>T (p.Thr376Ile) | |
15 | g.42777034G>C | CA392014637 | TTBK2 | c.1406C>G (p.Thr469Ser) c.1301C>G (p.Thr434Ser) c.2621C>G (p.Thr874Ser) c.1424C>G (p.Thr475Ser) c.1199C>G (p.Thr400Ser) c.1391C>G (p.Thr464Ser) c.1139C>G (p.Thr380Ser) c.1127C>G (p.Thr376Ser) | dbSNP |
15 | g.42777034G= | CA2172895150 | TTBK2 | c.1406C= (p.Thr469=) c.1301C= (p.Thr434=) c.2621C= (p.Thr874=) c.1424C= (p.Thr475=) c.1199C= (p.Thr400=) c.1391C= (p.Thr464=) c.1139C= (p.Thr380=) c.1127C= (p.Thr376=) | |
15 | g.42777034G>T | CA392014639 | TTBK2 | c.1406C>A (p.Thr469Asn) c.1301C>A (p.Thr434Asn) c.2621C>A (p.Thr874Asn) c.1424C>A (p.Thr475Asn) c.1199C>A (p.Thr400Asn) c.1391C>A (p.Thr464Asn) c.1139C>A (p.Thr380Asn) c.1127C>A (p.Thr376Asn) | |
15 | g.42777035T>A | CA392014644 | TTBK2 | c.1405A>T (p.Thr469Ser) c.1300A>T (p.Thr434Ser) c.2620A>T (p.Thr874Ser) c.1423A>T (p.Thr475Ser) c.1198A>T (p.Thr400Ser) c.1390A>T (p.Thr464Ser) c.1138A>T (p.Thr380Ser) c.1126A>T (p.Thr376Ser) | |
15 | g.42777035T>C | CA392014640 | TTBK2 | c.1405A>G (p.Thr469Ala) c.1300A>G (p.Thr434Ala) c.2620A>G (p.Thr874Ala) c.1423A>G (p.Thr475Ala) c.1198A>G (p.Thr400Ala) c.1390A>G (p.Thr464Ala) c.1138A>G (p.Thr380Ala) c.1126A>G (p.Thr376Ala) | |
15 | g.42777035T>G | CA392014641 | TTBK2 | c.1405A>C (p.Thr469Pro) c.1300A>C (p.Thr434Pro) c.2620A>C (p.Thr874Pro) c.1423A>C (p.Thr475Pro) c.1198A>C (p.Thr400Pro) c.1390A>C (p.Thr464Pro) c.1138A>C (p.Thr380Pro) c.1126A>C (p.Thr376Pro) | |
15 | g.42777036C>A | CA392014654 | TTBK2 | c.1404G>T (p.Glu468Asp) c.1299G>T (p.Glu433Asp) c.2619G>T (p.Glu873Asp) c.1422G>T (p.Glu474Asp) c.1197G>T (p.Glu399Asp) c.1389G>T (p.Glu463Asp) c.1137G>T (p.Glu379Asp) c.1125G>T (p.Glu375Asp) | |
15 | g.42777036C>G | CA392014657 | TTBK2 | c.1404G>C (p.Glu468Asp) c.1299G>C (p.Glu433Asp) c.2619G>C (p.Glu873Asp) c.1422G>C (p.Glu474Asp) c.1197G>C (p.Glu399Asp) c.1389G>C (p.Glu463Asp) c.1137G>C (p.Glu379Asp) c.1125G>C (p.Glu375Asp) | |
15 | g.42777036C>T | CA489892848 | TTBK2 | c.1404G>A (p.Glu468=) c.1299G>A (p.Glu433=) c.2619G>A (p.Glu873=) c.1422G>A (p.Glu474=) c.1197G>A (p.Glu399=) c.1389G>A (p.Glu463=) c.1137G>A (p.Glu379=) c.1125G>A (p.Glu375=) | gnomAD v4 |
15 | g.42777037T>A | CA392014658 | TTBK2 | c.1403A>T (p.Glu468Val) c.1298A>T (p.Glu433Val) c.2618A>T (p.Glu873Val) c.1421A>T (p.Glu474Val) c.1196A>T (p.Glu399Val) c.1388A>T (p.Glu463Val) c.1136A>T (p.Glu379Val) c.1124A>T (p.Glu375Val) | |
15 | g.42777037T>C | CA392014659 | TTBK2 | c.1403A>G (p.Glu468Gly) c.1298A>G (p.Glu433Gly) c.2618A>G (p.Glu873Gly) c.1421A>G (p.Glu474Gly) c.1196A>G (p.Glu399Gly) c.1388A>G (p.Glu463Gly) c.1136A>G (p.Glu379Gly) c.1124A>G (p.Glu375Gly) | |
15 | g.42777037T>G | CA392014661 | TTBK2 | c.1403A>C (p.Glu468Ala) c.1298A>C (p.Glu433Ala) c.2618A>C (p.Glu873Ala) c.1421A>C (p.Glu474Ala) c.1196A>C (p.Glu399Ala) c.1388A>C (p.Glu463Ala) c.1136A>C (p.Glu379Ala) c.1124A>C (p.Glu375Ala) | |
15 | g.42777038C>A | CA392014667 | TTBK2 | c.1402G>T (p.Glu468Ter) c.1297G>T (p.Glu433Ter) c.2617G>T (p.Glu873Ter) c.1420G>T (p.Glu474Ter) c.1195G>T (p.Glu399Ter) c.1387G>T (p.Glu463Ter) c.1135G>T (p.Glu379Ter) c.1123G>T (p.Glu375Ter) | gnomAD v4 COSMIC |
15 | g.42777038C>G | CA392014674 | TTBK2 | c.1402G>C (p.Glu468Gln) c.1297G>C (p.Glu433Gln) c.2617G>C (p.Glu873Gln) c.1420G>C (p.Glu474Gln) c.1195G>C (p.Glu399Gln) c.1387G>C (p.Glu463Gln) c.1135G>C (p.Glu379Gln) c.1123G>C (p.Glu375Gln) | |
15 | g.42777038C>T | CA392014672 | TTBK2 | c.1402G>A (p.Glu468Lys) c.1297G>A (p.Glu433Lys) c.2617G>A (p.Glu873Lys) c.1420G>A (p.Glu474Lys) c.1195G>A (p.Glu399Lys) c.1387G>A (p.Glu463Lys) c.1135G>A (p.Glu379Lys) c.1123G>A (p.Glu375Lys) | |
15 | g.42777039A>C | CA489892852 | TTBK2 | c.1401T>G (p.Leu467=) c.1296T>G (p.Leu432=) c.2616T>G (p.Leu872=) c.1419T>G (p.Leu473=) c.1194T>G (p.Leu398=) c.1386T>G (p.Leu462=) c.1134T>G (p.Leu378=) c.1122T>G (p.Leu374=) | |
15 | g.42777039A>G | CA489892853 | TTBK2 | c.1401T>C (p.Leu467=) c.1296T>C (p.Leu432=) c.2616T>C (p.Leu872=) c.1419T>C (p.Leu473=) c.1194T>C (p.Leu398=) c.1386T>C (p.Leu462=) c.1134T>C (p.Leu378=) c.1122T>C (p.Leu374=) | |
15 | g.42777039A>T | CA489892854 | TTBK2 | c.1401T>A (p.Leu467=) c.1296T>A (p.Leu432=) c.2616T>A (p.Leu872=) c.1419T>A (p.Leu473=) c.1194T>A (p.Leu398=) c.1386T>A (p.Leu462=) c.1134T>A (p.Leu378=) c.1122T>A (p.Leu374=) | |
15 | g.42777040A= | CA2172895153 | TTBK2 | c.1400T= (p.Leu467=) c.1295T= (p.Leu432=) c.2615T= (p.Leu872=) c.1418T= (p.Leu473=) c.1193T= (p.Leu398=) c.1385T= (p.Leu462=) c.1133T= (p.Leu378=) c.1121T= (p.Leu374=) | |
15 | g.42777040A>C | CA392014681 | TTBK2 | c.1400T>G (p.Leu467Arg) c.1295T>G (p.Leu432Arg) c.2615T>G (p.Leu872Arg) c.1418T>G (p.Leu473Arg) c.1193T>G (p.Leu398Arg) c.1385T>G (p.Leu462Arg) c.1133T>G (p.Leu378Arg) c.1121T>G (p.Leu374Arg) | |
15 | g.42777040A>G | CA392014684 | TTBK2 | c.1400T>C (p.Leu467Pro) c.1295T>C (p.Leu432Pro) c.2615T>C (p.Leu872Pro) c.1418T>C (p.Leu473Pro) c.1193T>C (p.Leu398Pro) c.1385T>C (p.Leu462Pro) c.1133T>C (p.Leu378Pro) c.1121T>C (p.Leu374Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777040A>T | CA392014691 | TTBK2 | c.1400T>A (p.Leu467His) c.1295T>A (p.Leu432His) c.2615T>A (p.Leu872His) c.1418T>A (p.Leu473His) c.1193T>A (p.Leu398His) c.1385T>A (p.Leu462His) c.1133T>A (p.Leu378His) c.1121T>A (p.Leu374His) | |
15 | g.42777041G>A | CA7516903 | TTBK2 | c.1399C>T (p.Leu467Phe) c.1294C>T (p.Leu432Phe) c.2614C>T (p.Leu872Phe) c.1417C>T (p.Leu473Phe) c.1192C>T (p.Leu398Phe) c.1384C>T (p.Leu462Phe) c.1132C>T (p.Leu378Phe) c.1120C>T (p.Leu374Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.42777041G>C | CA392014699 | TTBK2 | c.1399C>G (p.Leu467Val) c.1294C>G (p.Leu432Val) c.2614C>G (p.Leu872Val) c.1417C>G (p.Leu473Val) c.1192C>G (p.Leu398Val) c.1384C>G (p.Leu462Val) c.1132C>G (p.Leu378Val) c.1120C>G (p.Leu374Val) | |
15 | g.42777041G= | CA2172895155 | TTBK2 | c.1399C= (p.Leu467=) c.1294C= (p.Leu432=) c.2614C= (p.Leu872=) c.1417C= (p.Leu473=) c.1192C= (p.Leu398=) c.1384C= (p.Leu462=) c.1132C= (p.Leu378=) c.1120C= (p.Leu374=) | |
15 | g.42777041G>T | CA392014704 | TTBK2 | c.1399C>A (p.Leu467Ile) c.1294C>A (p.Leu432Ile) c.2614C>A (p.Leu872Ile) c.1417C>A (p.Leu473Ile) c.1192C>A (p.Leu398Ile) c.1384C>A (p.Leu462Ile) c.1132C>A (p.Leu378Ile) c.1120C>A (p.Leu374Ile) | |
15 | g.42777042G>A | CA489892861 | TTBK2 | c.1398C>T (p.Phe466=) c.1293C>T (p.Phe431=) c.2613C>T (p.Phe871=) c.1416C>T (p.Phe472=) c.1191C>T (p.Phe397=) c.1383C>T (p.Phe461=) c.1131C>T (p.Phe377=) c.1119C>T (p.Phe373=) | COSMIC |
15 | g.42777042G>C | CA392014711 | TTBK2 | c.1398C>G (p.Phe466Leu) c.1293C>G (p.Phe431Leu) c.2613C>G (p.Phe871Leu) c.1416C>G (p.Phe472Leu) c.1191C>G (p.Phe397Leu) c.1383C>G (p.Phe461Leu) c.1131C>G (p.Phe377Leu) c.1119C>G (p.Phe373Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777042G= | CA2172895160 | TTBK2 | c.1398C= (p.Phe466=) c.1293C= (p.Phe431=) c.2613C= (p.Phe871=) c.1416C= (p.Phe472=) c.1191C= (p.Phe397=) c.1383C= (p.Phe461=) c.1131C= (p.Phe377=) c.1119C= (p.Phe373=) | |
15 | g.42777042G>T | CA392014715 | TTBK2 | c.1398C>A (p.Phe466Leu) c.1293C>A (p.Phe431Leu) c.2613C>A (p.Phe871Leu) c.1416C>A (p.Phe472Leu) c.1191C>A (p.Phe397Leu) c.1383C>A (p.Phe461Leu) c.1131C>A (p.Phe377Leu) c.1119C>A (p.Phe373Leu) | |
15 | g.42777043A>C | CA392014721 | TTBK2 | c.1397T>G (p.Phe466Cys) c.1292T>G (p.Phe431Cys) c.2612T>G (p.Phe871Cys) c.1415T>G (p.Phe472Cys) c.1190T>G (p.Phe397Cys) c.1382T>G (p.Phe461Cys) c.1130T>G (p.Phe377Cys) c.1118T>G (p.Phe373Cys) | |
15 | g.42777043A>G | CA392014725 | TTBK2 | c.1397T>C (p.Phe466Ser) c.1292T>C (p.Phe431Ser) c.2612T>C (p.Phe871Ser) c.1415T>C (p.Phe472Ser) c.1190T>C (p.Phe397Ser) c.1382T>C (p.Phe461Ser) c.1130T>C (p.Phe377Ser) c.1118T>C (p.Phe373Ser) | |
15 | g.42777043A>T | CA392014729 | TTBK2 | c.1397T>A (p.Phe466Tyr) c.1292T>A (p.Phe431Tyr) c.2612T>A (p.Phe871Tyr) c.1415T>A (p.Phe472Tyr) c.1190T>A (p.Phe397Tyr) c.1382T>A (p.Phe461Tyr) c.1130T>A (p.Phe377Tyr) c.1118T>A (p.Phe373Tyr) | |
15 | g.42777044A>C | CA392014741 | TTBK2 | c.1396T>G (p.Phe466Val) c.1291T>G (p.Phe431Val) c.2611T>G (p.Phe871Val) c.1414T>G (p.Phe472Val) c.1189T>G (p.Phe397Val) c.1381T>G (p.Phe461Val) c.1129T>G (p.Phe377Val) c.1117T>G (p.Phe373Val) | |
15 | g.42777044A>G | CA392014737 | TTBK2 | c.1396T>C (p.Phe466Leu) c.1291T>C (p.Phe431Leu) c.2611T>C (p.Phe871Leu) c.1414T>C (p.Phe472Leu) c.1189T>C (p.Phe397Leu) c.1381T>C (p.Phe461Leu) c.1129T>C (p.Phe377Leu) c.1117T>C (p.Phe373Leu) | |
15 | g.42777044A>T | CA392014733 | TTBK2 | c.1396T>A (p.Phe466Ile) c.1291T>A (p.Phe431Ile) c.2611T>A (p.Phe871Ile) c.1414T>A (p.Phe472Ile) c.1189T>A (p.Phe397Ile) c.1381T>A (p.Phe461Ile) c.1129T>A (p.Phe377Ile) c.1117T>A (p.Phe373Ile) | |
15 | g.42777045C>A | CA392014746 | TTBK2 | c.1395G>T (p.Lys465Asn) c.1290G>T (p.Lys430Asn) c.2610G>T (p.Lys870Asn) c.1413G>T (p.Lys471Asn) c.1188G>T (p.Lys396Asn) c.1380G>T (p.Lys460Asn) c.1128G>T (p.Lys376Asn) c.1116G>T (p.Lys372Asn) | |
15 | g.42777045C>G | CA392014749 | TTBK2 | c.1395G>C (p.Lys465Asn) c.1290G>C (p.Lys430Asn) c.2610G>C (p.Lys870Asn) c.1413G>C (p.Lys471Asn) c.1188G>C (p.Lys396Asn) c.1380G>C (p.Lys460Asn) c.1128G>C (p.Lys376Asn) c.1116G>C (p.Lys372Asn) | |
15 | g.42777045C>T | CA489892866 | TTBK2 | c.1395G>A (p.Lys465=) c.1290G>A (p.Lys430=) c.2610G>A (p.Lys870=) c.1413G>A (p.Lys471=) c.1188G>A (p.Lys396=) c.1380G>A (p.Lys460=) c.1128G>A (p.Lys376=) c.1116G>A (p.Lys372=) | |
15 | g.42777046T>A | CA392014754 | TTBK2 | c.1394A>T (p.Lys465Met) c.1289A>T (p.Lys430Met) c.2609A>T (p.Lys870Met) c.1412A>T (p.Lys471Met) c.1187A>T (p.Lys396Met) c.1379A>T (p.Lys460Met) c.1127A>T (p.Lys376Met) c.1115A>T (p.Lys372Met) | |
15 | g.42777046T>C | CA392014762 | TTBK2 | c.1394A>G (p.Lys465Arg) c.1289A>G (p.Lys430Arg) c.2609A>G (p.Lys870Arg) c.1412A>G (p.Lys471Arg) c.1187A>G (p.Lys396Arg) c.1379A>G (p.Lys460Arg) c.1127A>G (p.Lys376Arg) c.1115A>G (p.Lys372Arg) | |
15 | g.42777046T>G | CA392014757 | TTBK2 | c.1394A>C (p.Lys465Thr) c.1289A>C (p.Lys430Thr) c.2609A>C (p.Lys870Thr) c.1412A>C (p.Lys471Thr) c.1187A>C (p.Lys396Thr) c.1379A>C (p.Lys460Thr) c.1127A>C (p.Lys376Thr) c.1115A>C (p.Lys372Thr) | |
15 | g.42777047T>A | CA392014767 | TTBK2 | c.1393A>T (p.Lys465Ter) c.1288A>T (p.Lys430Ter) c.2608A>T (p.Lys870Ter) c.1411A>T (p.Lys471Ter) c.1186A>T (p.Lys396Ter) c.1378A>T (p.Lys460Ter) c.1126A>T (p.Lys376Ter) c.1114A>T (p.Lys372Ter) | |
15 | g.42777047T>C | CA392014771 | TTBK2 | c.1393A>G (p.Lys465Glu) c.1288A>G (p.Lys430Glu) c.2608A>G (p.Lys870Glu) c.1411A>G (p.Lys471Glu) c.1186A>G (p.Lys396Glu) c.1378A>G (p.Lys460Glu) c.1126A>G (p.Lys376Glu) c.1114A>G (p.Lys372Glu) | |
15 | g.42777047T>G | CA392014775 | TTBK2 | c.1393A>C (p.Lys465Gln) c.1288A>C (p.Lys430Gln) c.2608A>C (p.Lys870Gln) c.1411A>C (p.Lys471Gln) c.1186A>C (p.Lys396Gln) c.1378A>C (p.Lys460Gln) c.1126A>C (p.Lys376Gln) c.1114A>C (p.Lys372Gln) | |
15 | g.42777048G>A | CA489892869 | TTBK2 | c.1392C>T (p.Asp464=) c.1287C>T (p.Asp429=) c.2607C>T (p.Asp869=) c.1410C>T (p.Asp470=) c.1185C>T (p.Asp395=) c.1377C>T (p.Asp459=) c.1125C>T (p.Asp375=) c.1113C>T (p.Asp371=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.42777048G>C | CA392014781 | TTBK2 | c.1392C>G (p.Asp464Glu) c.1287C>G (p.Asp429Glu) c.2607C>G (p.Asp869Glu) c.1410C>G (p.Asp470Glu) c.1185C>G (p.Asp395Glu) c.1377C>G (p.Asp459Glu) c.1125C>G (p.Asp375Glu) c.1113C>G (p.Asp371Glu) | |
15 | g.42777048G= | CA2172895163 | TTBK2 | c.1392C= (p.Asp464=) c.1287C= (p.Asp429=) c.2607C= (p.Asp869=) c.1410C= (p.Asp470=) c.1185C= (p.Asp395=) c.1377C= (p.Asp459=) c.1125C= (p.Asp375=) c.1113C= (p.Asp371=) | |
15 | g.42777048G>T | CA392014786 | TTBK2 | c.1392C>A (p.Asp464Glu) c.1287C>A (p.Asp429Glu) c.2607C>A (p.Asp869Glu) c.1410C>A (p.Asp470Glu) c.1185C>A (p.Asp395Glu) c.1377C>A (p.Asp459Glu) c.1125C>A (p.Asp375Glu) c.1113C>A (p.Asp371Glu) | |
15 | g.42777049T>A | CA392014790 | TTBK2 | c.1391A>T (p.Asp464Val) c.1286A>T (p.Asp429Val) c.2606A>T (p.Asp869Val) c.1409A>T (p.Asp470Val) c.1184A>T (p.Asp395Val) c.1376A>T (p.Asp459Val) c.1124A>T (p.Asp375Val) c.1112A>T (p.Asp371Val) | |
15 | g.42777049T>C | CA392014794 | TTBK2 | c.1391A>G (p.Asp464Gly) c.1286A>G (p.Asp429Gly) c.2606A>G (p.Asp869Gly) c.1409A>G (p.Asp470Gly) c.1184A>G (p.Asp395Gly) c.1376A>G (p.Asp459Gly) c.1124A>G (p.Asp375Gly) c.1112A>G (p.Asp371Gly) | gnomAD v4 |
15 | g.42777049T>G | CA392014798 | TTBK2 | c.1391A>C (p.Asp464Ala) c.1286A>C (p.Asp429Ala) c.2606A>C (p.Asp869Ala) c.1409A>C (p.Asp470Ala) c.1184A>C (p.Asp395Ala) c.1376A>C (p.Asp459Ala) c.1124A>C (p.Asp375Ala) c.1112A>C (p.Asp371Ala) | |
15 | g.42777050C>A | CA392014801 | TTBK2 | c.1390G>T (p.Asp464Tyr) c.1285G>T (p.Asp429Tyr) c.2605G>T (p.Asp869Tyr) c.1408G>T (p.Asp470Tyr) c.1183G>T (p.Asp395Tyr) c.1375G>T (p.Asp459Tyr) c.1123G>T (p.Asp375Tyr) c.1111G>T (p.Asp371Tyr) | |
15 | g.42777050C>G | CA392014804 | TTBK2 | c.1390G>C (p.Asp464His) c.1285G>C (p.Asp429His) c.2605G>C (p.Asp869His) c.1408G>C (p.Asp470His) c.1183G>C (p.Asp395His) c.1375G>C (p.Asp459His) c.1123G>C (p.Asp375His) c.1111G>C (p.Asp371His) | |
15 | g.42777050C>T | CA392014826 | TTBK2 | c.1390G>A (p.Asp464Asn) c.1285G>A (p.Asp429Asn) c.2605G>A (p.Asp869Asn) c.1408G>A (p.Asp470Asn) c.1183G>A (p.Asp395Asn) c.1375G>A (p.Asp459Asn) c.1123G>A (p.Asp375Asn) c.1111G>A (p.Asp371Asn) | |
15 | g.42777051A>C | CA489892872 | TTBK2 | c.1389T>G (p.Thr463=) c.1284T>G (p.Thr428=) c.2604T>G (p.Thr868=) c.1407T>G (p.Thr469=) c.1182T>G (p.Thr394=) c.1374T>G (p.Thr458=) c.1122T>G (p.Thr374=) c.1110T>G (p.Thr370=) | |
15 | g.42777051A>G | CA489892873 | TTBK2 | c.1389T>C (p.Thr463=) c.1284T>C (p.Thr428=) c.2604T>C (p.Thr868=) c.1407T>C (p.Thr469=) c.1182T>C (p.Thr394=) c.1374T>C (p.Thr458=) c.1122T>C (p.Thr374=) c.1110T>C (p.Thr370=) | |
15 | g.42777051A>T | CA489892874 | TTBK2 | c.1389T>A (p.Thr463=) c.1284T>A (p.Thr428=) c.2604T>A (p.Thr868=) c.1407T>A (p.Thr469=) c.1182T>A (p.Thr394=) c.1374T>A (p.Thr458=) c.1122T>A (p.Thr374=) c.1110T>A (p.Thr370=) | |
15 | g.42777052G>A | CA392014837 | TTBK2 | c.1388C>T (p.Thr463Ile) c.1283C>T (p.Thr428Ile) c.2603C>T (p.Thr868Ile) c.1406C>T (p.Thr469Ile) c.1181C>T (p.Thr394Ile) c.1373C>T (p.Thr458Ile) c.1121C>T (p.Thr374Ile) c.1109C>T (p.Thr370Ile) | gnomAD v4 |
15 | g.42777052G>C | CA269888757 | TTBK2 | c.1388C>G (p.Thr463Ser) c.1283C>G (p.Thr428Ser) c.2603C>G (p.Thr868Ser) c.1406C>G (p.Thr469Ser) c.1181C>G (p.Thr394Ser) c.1373C>G (p.Thr458Ser) c.1121C>G (p.Thr374Ser) c.1109C>G (p.Thr370Ser) | dbSNP gnomAD v4 |
15 | g.42777052G= | CA2172895165 | TTBK2 | c.1388C= (p.Thr463=) c.1283C= (p.Thr428=) c.2603C= (p.Thr868=) c.1406C= (p.Thr469=) c.1181C= (p.Thr394=) c.1373C= (p.Thr458=) c.1121C= (p.Thr374=) c.1109C= (p.Thr370=) | |
15 | g.42777052G>T | CA392014834 | TTBK2 | c.1388C>A (p.Thr463Asn) c.1283C>A (p.Thr428Asn) c.2603C>A (p.Thr868Asn) c.1406C>A (p.Thr469Asn) c.1181C>A (p.Thr394Asn) c.1373C>A (p.Thr458Asn) c.1121C>A (p.Thr374Asn) c.1109C>A (p.Thr370Asn) | |
15 | g.42777053T>A | CA392014838 | TTBK2 | c.1387A>T (p.Thr463Ser) c.1282A>T (p.Thr428Ser) c.2602A>T (p.Thr868Ser) c.1405A>T (p.Thr469Ser) c.1180A>T (p.Thr394Ser) c.1372A>T (p.Thr458Ser) c.1120A>T (p.Thr374Ser) c.1108A>T (p.Thr370Ser) | |
15 | g.42777053T>C | CA7516904 | TTBK2 | c.1387A>G (p.Thr463Ala) c.1282A>G (p.Thr428Ala) c.2602A>G (p.Thr868Ala) c.1405A>G (p.Thr469Ala) c.1180A>G (p.Thr394Ala) c.1372A>G (p.Thr458Ala) c.1120A>G (p.Thr374Ala) c.1108A>G (p.Thr370Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777053T>G | CA392014840 | TTBK2 | c.1387A>C (p.Thr463Pro) c.1282A>C (p.Thr428Pro) c.2602A>C (p.Thr868Pro) c.1405A>C (p.Thr469Pro) c.1180A>C (p.Thr394Pro) c.1372A>C (p.Thr458Pro) c.1120A>C (p.Thr374Pro) c.1108A>C (p.Thr370Pro) | |
15 | g.42777053T= | CA2172895170 | TTBK2 | c.1387A= (p.Thr463=) c.1282A= (p.Thr428=) c.2602A= (p.Thr868=) c.1405A= (p.Thr469=) c.1180A= (p.Thr394=) c.1372A= (p.Thr458=) c.1120A= (p.Thr374=) c.1108A= (p.Thr370=) | |
15 | g.42777054G>A | CA489892875 | TTBK2 | c.1386C>T (p.Asp462=) c.1281C>T (p.Asp427=) c.2601C>T (p.Asp867=) c.1404C>T (p.Asp468=) c.1179C>T (p.Asp393=) c.1371C>T (p.Asp457=) c.1119C>T (p.Asp373=) c.1107C>T (p.Asp369=) | gnomAD v4 |
15 | g.42777054G>C | CA392014844 | TTBK2 | c.1386C>G (p.Asp462Glu) c.1281C>G (p.Asp427Glu) c.2601C>G (p.Asp867Glu) c.1404C>G (p.Asp468Glu) c.1179C>G (p.Asp393Glu) c.1371C>G (p.Asp457Glu) c.1119C>G (p.Asp373Glu) c.1107C>G (p.Asp369Glu) | |
15 | g.42777054G>T | CA392014847 | TTBK2 | c.1386C>A (p.Asp462Glu) c.1281C>A (p.Asp427Glu) c.2601C>A (p.Asp867Glu) c.1404C>A (p.Asp468Glu) c.1179C>A (p.Asp393Glu) c.1371C>A (p.Asp457Glu) c.1119C>A (p.Asp373Glu) c.1107C>A (p.Asp369Glu) | gnomAD v4 |
15 | g.42777055T>A | CA392014851 | TTBK2 | c.1385A>T (p.Asp462Val) c.1280A>T (p.Asp427Val) c.2600A>T (p.Asp867Val) c.1403A>T (p.Asp468Val) c.1178A>T (p.Asp393Val) c.1370A>T (p.Asp457Val) c.1118A>T (p.Asp373Val) c.1106A>T (p.Asp369Val) | |
15 | g.42777055T>C | CA392014852 | TTBK2 | c.1385A>G (p.Asp462Gly) c.1280A>G (p.Asp427Gly) c.2600A>G (p.Asp867Gly) c.1403A>G (p.Asp468Gly) c.1178A>G (p.Asp393Gly) c.1370A>G (p.Asp457Gly) c.1118A>G (p.Asp373Gly) c.1106A>G (p.Asp369Gly) | gnomAD v4 |
15 | g.42777055T>G | CA392014854 | TTBK2 | c.1385A>C (p.Asp462Ala) c.1280A>C (p.Asp427Ala) c.2600A>C (p.Asp867Ala) c.1403A>C (p.Asp468Ala) c.1178A>C (p.Asp393Ala) c.1370A>C (p.Asp457Ala) c.1118A>C (p.Asp373Ala) c.1106A>C (p.Asp369Ala) | |
15 | g.42777056C>A | CA392014856 | TTBK2 | c.1384G>T (p.Asp462Tyr) c.1279G>T (p.Asp427Tyr) c.2599G>T (p.Asp867Tyr) c.1402G>T (p.Asp468Tyr) c.1177G>T (p.Asp393Tyr) c.1369G>T (p.Asp457Tyr) c.1117G>T (p.Asp373Tyr) c.1105G>T (p.Asp369Tyr) | |
15 | g.42777056C>G | CA392014859 | TTBK2 | c.1384G>C (p.Asp462His) c.1279G>C (p.Asp427His) c.2599G>C (p.Asp867His) c.1402G>C (p.Asp468His) c.1177G>C (p.Asp393His) c.1369G>C (p.Asp457His) c.1117G>C (p.Asp373His) c.1105G>C (p.Asp369His) | |
15 | g.42777056C>T | CA392014862 | TTBK2 | c.1384G>A (p.Asp462Asn) c.1279G>A (p.Asp427Asn) c.2599G>A (p.Asp867Asn) c.1402G>A (p.Asp468Asn) c.1177G>A (p.Asp393Asn) c.1369G>A (p.Asp457Asn) c.1117G>A (p.Asp373Asn) c.1105G>A (p.Asp369Asn) | |
15 | g.42777057T>A | CA489892878 | TTBK2 | c.1383A>T (p.Pro461=) c.1278A>T (p.Pro426=) c.2598A>T (p.Pro866=) c.1401A>T (p.Pro467=) c.1176A>T (p.Pro392=) c.1368A>T (p.Pro456=) c.1116A>T (p.Pro372=) c.1104A>T (p.Pro368=) | |
15 | g.42777057T>C | CA489892882 | TTBK2 | c.1383A>G (p.Pro461=) c.1278A>G (p.Pro426=) c.2598A>G (p.Pro866=) c.1401A>G (p.Pro467=) c.1176A>G (p.Pro392=) c.1368A>G (p.Pro456=) c.1116A>G (p.Pro372=) c.1104A>G (p.Pro368=) | |
15 | g.42777057T>G | CA489892880 | TTBK2 | c.1383A>C (p.Pro461=) c.1278A>C (p.Pro426=) c.2598A>C (p.Pro866=) c.1401A>C (p.Pro467=) c.1176A>C (p.Pro392=) c.1368A>C (p.Pro456=) c.1116A>C (p.Pro372=) c.1104A>C (p.Pro368=) | |
15 | g.42777058G>A | CA392014870 | TTBK2 | c.1382C>T (p.Pro461Leu) c.1277C>T (p.Pro426Leu) c.2597C>T (p.Pro866Leu) c.1400C>T (p.Pro467Leu) c.1175C>T (p.Pro392Leu) c.1367C>T (p.Pro456Leu) c.1115C>T (p.Pro372Leu) c.1103C>T (p.Pro368Leu) | |
15 | g.42777058G>C | CA392014871 | TTBK2 | c.1382C>G (p.Pro461Arg) c.1277C>G (p.Pro426Arg) c.2597C>G (p.Pro866Arg) c.1400C>G (p.Pro467Arg) c.1175C>G (p.Pro392Arg) c.1367C>G (p.Pro456Arg) c.1115C>G (p.Pro372Arg) c.1103C>G (p.Pro368Arg) | |
15 | g.42777058G>T | CA392014869 | TTBK2 | c.1382C>A (p.Pro461Gln) c.1277C>A (p.Pro426Gln) c.2597C>A (p.Pro866Gln) c.1400C>A (p.Pro467Gln) c.1175C>A (p.Pro392Gln) c.1367C>A (p.Pro456Gln) c.1115C>A (p.Pro372Gln) c.1103C>A (p.Pro368Gln) | |
15 | g.42777059G>A | CA392014873 | TTBK2 | c.1381C>T (p.Pro461Ser) c.1276C>T (p.Pro426Ser) c.2596C>T (p.Pro866Ser) c.1399C>T (p.Pro467Ser) c.1174C>T (p.Pro392Ser) c.1366C>T (p.Pro456Ser) c.1114C>T (p.Pro372Ser) c.1102C>T (p.Pro368Ser) | |
15 | g.42777059G>C | CA392014876 | TTBK2 | c.1381C>G (p.Pro461Ala) c.1276C>G (p.Pro426Ala) c.2596C>G (p.Pro866Ala) c.1399C>G (p.Pro467Ala) c.1174C>G (p.Pro392Ala) c.1366C>G (p.Pro456Ala) c.1114C>G (p.Pro372Ala) c.1102C>G (p.Pro368Ala) | gnomAD v4 |
15 | g.42777059G>T | CA392014877 | TTBK2 | c.1381C>A (p.Pro461Thr) c.1276C>A (p.Pro426Thr) c.2596C>A (p.Pro866Thr) c.1399C>A (p.Pro467Thr) c.1174C>A (p.Pro392Thr) c.1366C>A (p.Pro456Thr) c.1114C>A (p.Pro372Thr) c.1102C>A (p.Pro368Thr) | |
15 | g.42777060C>A | CA392014878 | TTBK2 | c.1380G>T (p.Lys460Asn) c.1275G>T (p.Lys425Asn) c.2595G>T (p.Lys865Asn) c.1398G>T (p.Lys466Asn) c.1173G>T (p.Lys391Asn) c.1365G>T (p.Lys455Asn) c.1113G>T (p.Lys371Asn) c.1101G>T (p.Lys367Asn) | |
15 | g.42777060C= | CA2172895173 | TTBK2 | c.1380G= (p.Lys460=) c.1275G= (p.Lys425=) c.2595G= (p.Lys865=) c.1398G= (p.Lys466=) c.1173G= (p.Lys391=) c.1365G= (p.Lys455=) c.1113G= (p.Lys371=) c.1101G= (p.Lys367=) | |
15 | g.42777060C>G | CA392014879 | TTBK2 | c.1380G>C (p.Lys460Asn) c.1275G>C (p.Lys425Asn) c.2595G>C (p.Lys865Asn) c.1398G>C (p.Lys466Asn) c.1173G>C (p.Lys391Asn) c.1365G>C (p.Lys455Asn) c.1113G>C (p.Lys371Asn) c.1101G>C (p.Lys367Asn) | |
15 | g.42777060C>T | CA489892886 | TTBK2 | c.1380G>A (p.Lys460=) c.1275G>A (p.Lys425=) c.2595G>A (p.Lys865=) c.1398G>A (p.Lys466=) c.1173G>A (p.Lys391=) c.1365G>A (p.Lys455=) c.1113G>A (p.Lys371=) c.1101G>A (p.Lys367=) | dbSNP |
15 | g.42777061T>A | CA392014882 | TTBK2 | c.1379A>T (p.Lys460Met) c.1274A>T (p.Lys425Met) c.2594A>T (p.Lys865Met) c.1397A>T (p.Lys466Met) c.1172A>T (p.Lys391Met) c.1364A>T (p.Lys455Met) c.1112A>T (p.Lys371Met) c.1100A>T (p.Lys367Met) | |
15 | g.42777061T>C | CA392014889 | TTBK2 | c.1379A>G (p.Lys460Arg) c.1274A>G (p.Lys425Arg) c.2594A>G (p.Lys865Arg) c.1397A>G (p.Lys466Arg) c.1172A>G (p.Lys391Arg) c.1364A>G (p.Lys455Arg) c.1112A>G (p.Lys371Arg) c.1100A>G (p.Lys367Arg) | |
15 | g.42777061T>G | CA392014892 | TTBK2 | c.1379A>C (p.Lys460Thr) c.1274A>C (p.Lys425Thr) c.2594A>C (p.Lys865Thr) c.1397A>C (p.Lys466Thr) c.1172A>C (p.Lys391Thr) c.1364A>C (p.Lys455Thr) c.1112A>C (p.Lys371Thr) c.1100A>C (p.Lys367Thr) | |
15 | g.42777062T>A | CA392014896 | TTBK2 | c.1378A>T (p.Lys460Ter) c.1273A>T (p.Lys425Ter) c.2593A>T (p.Lys865Ter) c.1396A>T (p.Lys466Ter) c.1171A>T (p.Lys391Ter) c.1363A>T (p.Lys455Ter) c.1111A>T (p.Lys371Ter) c.1099A>T (p.Lys367Ter) | |
15 | g.42777062T>C | CA392014898 | TTBK2 | c.1378A>G (p.Lys460Glu) c.1273A>G (p.Lys425Glu) c.2593A>G (p.Lys865Glu) c.1396A>G (p.Lys466Glu) c.1171A>G (p.Lys391Glu) c.1363A>G (p.Lys455Glu) c.1111A>G (p.Lys371Glu) c.1099A>G (p.Lys367Glu) | |
15 | g.42777062T>G | CA392014903 | TTBK2 | c.1378A>C (p.Lys460Gln) c.1273A>C (p.Lys425Gln) c.2593A>C (p.Lys865Gln) c.1396A>C (p.Lys466Gln) c.1171A>C (p.Lys391Gln) c.1363A>C (p.Lys455Gln) c.1111A>C (p.Lys371Gln) c.1099A>C (p.Lys367Gln) | |
15 | g.42777063T>A | CA489892891 | TTBK2 | c.1377A>T (p.Pro459=) c.1272A>T (p.Pro424=) c.2592A>T (p.Pro864=) c.1395A>T (p.Pro465=) c.1170A>T (p.Pro390=) c.1362A>T (p.Pro454=) c.1110A>T (p.Pro370=) c.1098A>T (p.Pro366=) | |
15 | g.42777063T>C | CA489892892 | TTBK2 | c.1377A>G (p.Pro459=) c.1272A>G (p.Pro424=) c.2592A>G (p.Pro864=) c.1395A>G (p.Pro465=) c.1170A>G (p.Pro390=) c.1362A>G (p.Pro454=) c.1110A>G (p.Pro370=) c.1098A>G (p.Pro366=) | |
15 | g.42777063T>G | CA7516905 | TTBK2 | c.1377A>C (p.Pro459=) c.1272A>C (p.Pro424=) c.2592A>C (p.Pro864=) c.1395A>C (p.Pro465=) c.1170A>C (p.Pro390=) c.1362A>C (p.Pro454=) c.1110A>C (p.Pro370=) c.1098A>C (p.Pro366=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.42777063T= | CA2172895177 | TTBK2 | c.1377A= (p.Pro459=) c.1272A= (p.Pro424=) c.2592A= (p.Pro864=) c.1395A= (p.Pro465=) c.1170A= (p.Pro390=) c.1362A= (p.Pro454=) c.1110A= (p.Pro370=) c.1098A= (p.Pro366=) | |
15 | g.42777064G>A | CA392014915 | TTBK2 | c.1376C>T (p.Pro459Leu) c.1271C>T (p.Pro424Leu) c.2591C>T (p.Pro864Leu) c.1394C>T (p.Pro465Leu) c.1169C>T (p.Pro390Leu) c.1361C>T (p.Pro454Leu) c.1109C>T (p.Pro370Leu) c.1097C>T (p.Pro366Leu) | |
15 | g.42777064G>C | CA392014919 | TTBK2 | c.1376C>G (p.Pro459Arg) c.1271C>G (p.Pro424Arg) c.2591C>G (p.Pro864Arg) c.1394C>G (p.Pro465Arg) c.1169C>G (p.Pro390Arg) c.1361C>G (p.Pro454Arg) c.1109C>G (p.Pro370Arg) c.1097C>G (p.Pro366Arg) | |
15 | g.42777064G>T | CA392014912 | TTBK2 | c.1376C>A (p.Pro459Gln) c.1271C>A (p.Pro424Gln) c.2591C>A (p.Pro864Gln) c.1394C>A (p.Pro465Gln) c.1169C>A (p.Pro390Gln) c.1361C>A (p.Pro454Gln) c.1109C>A (p.Pro370Gln) c.1097C>A (p.Pro366Gln) | |
15 | g.42777065G>A | CA392014925 | TTBK2 | c.1375C>T (p.Pro459Ser) c.1270C>T (p.Pro424Ser) c.2590C>T (p.Pro864Ser) c.1393C>T (p.Pro465Ser) c.1168C>T (p.Pro390Ser) c.1360C>T (p.Pro454Ser) c.1108C>T (p.Pro370Ser) c.1096C>T (p.Pro366Ser) | |
15 | g.42777065G>C | CA392014932 | TTBK2 | c.1375C>G (p.Pro459Ala) c.1270C>G (p.Pro424Ala) c.2590C>G (p.Pro864Ala) c.1393C>G (p.Pro465Ala) c.1168C>G (p.Pro390Ala) c.1360C>G (p.Pro454Ala) c.1108C>G (p.Pro370Ala) c.1096C>G (p.Pro366Ala) | |
15 | g.42777065G>T | CA392014935 | TTBK2 | c.1375C>A (p.Pro459Thr) c.1270C>A (p.Pro424Thr) c.2590C>A (p.Pro864Thr) c.1393C>A (p.Pro465Thr) c.1168C>A (p.Pro390Thr) c.1360C>A (p.Pro454Thr) c.1108C>A (p.Pro370Thr) c.1096C>A (p.Pro366Thr) | gnomAD v4 |
15 | g.42777066C>A | CA392014940 | TTBK2 | c.1374G>T (p.Glu458Asp) c.1269G>T (p.Glu423Asp) c.2589G>T (p.Glu863Asp) c.1392G>T (p.Glu464Asp) c.1167G>T (p.Glu389Asp) c.1359G>T (p.Glu453Asp) c.1107G>T (p.Glu369Asp) c.1095G>T (p.Glu365Asp) | |
15 | g.42777066C>G | CA392014942 | TTBK2 | c.1374G>C (p.Glu458Asp) c.1269G>C (p.Glu423Asp) c.2589G>C (p.Glu863Asp) c.1392G>C (p.Glu464Asp) c.1167G>C (p.Glu389Asp) c.1359G>C (p.Glu453Asp) c.1107G>C (p.Glu369Asp) c.1095G>C (p.Glu365Asp) | |
15 | g.42777066C>T | CA489892896 | TTBK2 | c.1374G>A (p.Glu458=) c.1269G>A (p.Glu423=) c.2589G>A (p.Glu863=) c.1392G>A (p.Glu464=) c.1167G>A (p.Glu389=) c.1359G>A (p.Glu453=) c.1107G>A (p.Glu369=) c.1095G>A (p.Glu365=) | gnomAD v4 |
15 | g.42777067T>A | CA392014955 | TTBK2 | c.1373A>T (p.Glu458Val) c.1268A>T (p.Glu423Val) c.2588A>T (p.Glu863Val) c.1391A>T (p.Glu464Val) c.1166A>T (p.Glu389Val) c.1358A>T (p.Glu453Val) c.1106A>T (p.Glu369Val) c.1094A>T (p.Glu365Val) | gnomAD v4 |
15 | g.42777067T>C | CA392014948 | TTBK2 | c.1373A>G (p.Glu458Gly) c.1268A>G (p.Glu423Gly) c.2588A>G (p.Glu863Gly) c.1391A>G (p.Glu464Gly) c.1166A>G (p.Glu389Gly) c.1358A>G (p.Glu453Gly) c.1106A>G (p.Glu369Gly) c.1094A>G (p.Glu365Gly) | |
15 | g.42777067T>G | CA392014952 | TTBK2 | c.1373A>C (p.Glu458Ala) c.1268A>C (p.Glu423Ala) c.2588A>C (p.Glu863Ala) c.1391A>C (p.Glu464Ala) c.1166A>C (p.Glu389Ala) c.1358A>C (p.Glu453Ala) c.1106A>C (p.Glu369Ala) c.1094A>C (p.Glu365Ala) | |
15 | g.42777068C>A | CA392014959 | TTBK2 | c.1372G>T (p.Glu458Ter) c.1267G>T (p.Glu423Ter) c.2587G>T (p.Glu863Ter) c.1390G>T (p.Glu464Ter) c.1165G>T (p.Glu389Ter) c.1357G>T (p.Glu453Ter) c.1105G>T (p.Glu369Ter) c.1093G>T (p.Glu365Ter) | |
15 | g.42777068C>G | CA392014964 | TTBK2 | c.1372G>C (p.Glu458Gln) c.1267G>C (p.Glu423Gln) c.2587G>C (p.Glu863Gln) c.1390G>C (p.Glu464Gln) c.1165G>C (p.Glu389Gln) c.1357G>C (p.Glu453Gln) c.1105G>C (p.Glu369Gln) c.1093G>C (p.Glu365Gln) | |
15 | g.42777068C>T | CA392014966 | TTBK2 | c.1372G>A (p.Glu458Lys) c.1267G>A (p.Glu423Lys) c.2587G>A (p.Glu863Lys) c.1390G>A (p.Glu464Lys) c.1165G>A (p.Glu389Lys) c.1357G>A (p.Glu453Lys) c.1105G>A (p.Glu369Lys) c.1093G>A (p.Glu365Lys) | |
15 | g.42777069C>A | CA489892900 | TTBK2 | c.1371G>T (p.Leu457=) c.1266G>T (p.Leu422=) c.2586G>T (p.Leu862=) c.1389G>T (p.Leu463=) c.1164G>T (p.Leu388=) c.1356G>T (p.Leu452=) c.1104G>T (p.Leu368=) c.1092G>T (p.Leu364=) | |
15 | g.42777069C>G | CA489892902 | TTBK2 | c.1371G>C (p.Leu457=) c.1266G>C (p.Leu422=) c.2586G>C (p.Leu862=) c.1389G>C (p.Leu463=) c.1164G>C (p.Leu388=) c.1356G>C (p.Leu452=) c.1104G>C (p.Leu368=) c.1092G>C (p.Leu364=) | |
15 | g.42777069C>T | CA489892903 | TTBK2 | c.1371G>A (p.Leu457=) c.1266G>A (p.Leu422=) c.2586G>A (p.Leu862=) c.1389G>A (p.Leu463=) c.1164G>A (p.Leu388=) c.1356G>A (p.Leu452=) c.1104G>A (p.Leu368=) c.1092G>A (p.Leu364=) | |
15 | g.42777070A= | CA2172895180 | TTBK2 | c.1370T= (p.Leu457=) c.1265T= (p.Leu422=) c.2585T= (p.Leu862=) c.1388T= (p.Leu463=) c.1163T= (p.Leu388=) c.1355T= (p.Leu452=) c.1103T= (p.Leu368=) c.1091T= (p.Leu364=) | |
15 | g.42777070A>C | CA392014971 | TTBK2 | c.1370T>G (p.Leu457Arg) c.1265T>G (p.Leu422Arg) c.2585T>G (p.Leu862Arg) c.1388T>G (p.Leu463Arg) c.1163T>G (p.Leu388Arg) c.1355T>G (p.Leu452Arg) c.1103T>G (p.Leu368Arg) c.1091T>G (p.Leu364Arg) | |
15 | g.42777070A>G | CA392014974 | TTBK2 | c.1370T>C (p.Leu457Pro) c.1265T>C (p.Leu422Pro) c.2585T>C (p.Leu862Pro) c.1388T>C (p.Leu463Pro) c.1163T>C (p.Leu388Pro) c.1355T>C (p.Leu452Pro) c.1103T>C (p.Leu368Pro) c.1091T>C (p.Leu364Pro) | |
15 | g.42777070A>T | CA392014979 | TTBK2 | c.1370T>A (p.Leu457Gln) c.1265T>A (p.Leu422Gln) c.2585T>A (p.Leu862Gln) c.1388T>A (p.Leu463Gln) c.1163T>A (p.Leu388Gln) c.1355T>A (p.Leu452Gln) c.1103T>A (p.Leu368Gln) c.1091T>A (p.Leu364Gln) | dbSNP |
15 | g.42777071G>A | CA489892904 | TTBK2 | c.1369C>T (p.Leu457=) c.1264C>T (p.Leu422=) c.2584C>T (p.Leu862=) c.1387C>T (p.Leu463=) c.1162C>T (p.Leu388=) c.1354C>T (p.Leu452=) c.1102C>T (p.Leu368=) c.1090C>T (p.Leu364=) | ClinVar |
15 | g.42777071G>C | CA392014982 | TTBK2 | c.1369C>G (p.Leu457Val) c.1264C>G (p.Leu422Val) c.2584C>G (p.Leu862Val) c.1387C>G (p.Leu463Val) c.1162C>G (p.Leu388Val) c.1354C>G (p.Leu452Val) c.1102C>G (p.Leu368Val) c.1090C>G (p.Leu364Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777071G= | CA2172895183 | TTBK2 | c.1369C= (p.Leu457=) c.1264C= (p.Leu422=) c.2584C= (p.Leu862=) c.1387C= (p.Leu463=) c.1162C= (p.Leu388=) c.1354C= (p.Leu452=) c.1102C= (p.Leu368=) c.1090C= (p.Leu364=) | |
15 | g.42777071G>T | CA392014986 | TTBK2 | c.1369C>A (p.Leu457Met) c.1264C>A (p.Leu422Met) c.2584C>A (p.Leu862Met) c.1387C>A (p.Leu463Met) c.1162C>A (p.Leu388Met) c.1354C>A (p.Leu452Met) c.1102C>A (p.Leu368Met) c.1090C>A (p.Leu364Met) | gnomAD v4 |
15 | g.42777072G>A | CA489892907 | TTBK2 | c.1368C>T (p.Thr456=) c.1263C>T (p.Thr421=) c.2583C>T (p.Thr861=) c.1386C>T (p.Thr462=) c.1161C>T (p.Thr387=) c.1353C>T (p.Thr451=) c.1101C>T (p.Thr367=) c.1089C>T (p.Thr363=) | |
15 | g.42777072G>C | CA489892908 | TTBK2 | c.1368C>G (p.Thr456=) c.1263C>G (p.Thr421=) c.2583C>G (p.Thr861=) c.1386C>G (p.Thr462=) c.1161C>G (p.Thr387=) c.1353C>G (p.Thr451=) c.1101C>G (p.Thr367=) c.1089C>G (p.Thr363=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.42777072G= | CA2172895188 | TTBK2 | c.1368C= (p.Thr456=) c.1263C= (p.Thr421=) c.2583C= (p.Thr861=) c.1386C= (p.Thr462=) c.1161C= (p.Thr387=) c.1353C= (p.Thr451=) c.1101C= (p.Thr367=) c.1089C= (p.Thr363=) | |
15 | g.42777072G>T | CA489892909 | TTBK2 | c.1368C>A (p.Thr456=) c.1263C>A (p.Thr421=) c.2583C>A (p.Thr861=) c.1386C>A (p.Thr462=) c.1161C>A (p.Thr387=) c.1353C>A (p.Thr451=) c.1101C>A (p.Thr367=) c.1089C>A (p.Thr363=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777073G>A | CA392014988 | TTBK2 | c.1367C>T (p.Thr456Ile) c.1262C>T (p.Thr421Ile) c.2582C>T (p.Thr861Ile) c.1385C>T (p.Thr462Ile) c.1160C>T (p.Thr387Ile) c.1352C>T (p.Thr451Ile) c.1100C>T (p.Thr367Ile) c.1088C>T (p.Thr363Ile) | gnomAD v4 |
15 | g.42777073G>C | CA392014989 | TTBK2 | c.1367C>G (p.Thr456Ser) c.1262C>G (p.Thr421Ser) c.2582C>G (p.Thr861Ser) c.1385C>G (p.Thr462Ser) c.1160C>G (p.Thr387Ser) c.1352C>G (p.Thr451Ser) c.1100C>G (p.Thr367Ser) c.1088C>G (p.Thr363Ser) | |
15 | g.42777073G>T | CA392014990 | TTBK2 | c.1367C>A (p.Thr456Asn) c.1262C>A (p.Thr421Asn) c.2582C>A (p.Thr861Asn) c.1385C>A (p.Thr462Asn) c.1160C>A (p.Thr387Asn) c.1352C>A (p.Thr451Asn) c.1100C>A (p.Thr367Asn) c.1088C>A (p.Thr363Asn) | |
15 | g.42777074T>A | CA392014995 | TTBK2 | c.1366A>T (p.Thr456Ser) c.1261A>T (p.Thr421Ser) c.2581A>T (p.Thr861Ser) c.1384A>T (p.Thr462Ser) c.1159A>T (p.Thr387Ser) c.1351A>T (p.Thr451Ser) c.1099A>T (p.Thr367Ser) c.1087A>T (p.Thr363Ser) | |
15 | g.42777074T>C | CA392015000 | TTBK2 | c.1366A>G (p.Thr456Ala) c.1261A>G (p.Thr421Ala) c.2581A>G (p.Thr861Ala) c.1384A>G (p.Thr462Ala) c.1159A>G (p.Thr387Ala) c.1351A>G (p.Thr451Ala) c.1099A>G (p.Thr367Ala) c.1087A>G (p.Thr363Ala) | |
15 | g.42777074T>G | CA392015001 | TTBK2 | c.1366A>C (p.Thr456Pro) c.1261A>C (p.Thr421Pro) c.2581A>C (p.Thr861Pro) c.1384A>C (p.Thr462Pro) c.1159A>C (p.Thr387Pro) c.1351A>C (p.Thr451Pro) c.1099A>C (p.Thr367Pro) c.1087A>C (p.Thr363Pro) | |
15 | g.42777075C>A | CA489892911 | TTBK2 | c.1365G>T (p.Leu455=) c.1260G>T (p.Leu420=) c.2580G>T (p.Leu860=) c.1383G>T (p.Leu461=) c.1158G>T (p.Leu386=) c.1350G>T (p.Leu450=) c.1098G>T (p.Leu366=) c.1086G>T (p.Leu362=) | |
15 | g.42777075C>G | CA489892912 | TTBK2 | c.1365G>C (p.Leu455=) c.1260G>C (p.Leu420=) c.2580G>C (p.Leu860=) c.1383G>C (p.Leu461=) c.1158G>C (p.Leu386=) c.1350G>C (p.Leu450=) c.1098G>C (p.Leu366=) c.1086G>C (p.Leu362=) | gnomAD v4 |
15 | g.42777075C>T | CA489892913 | TTBK2 | c.1365G>A (p.Leu455=) c.1260G>A (p.Leu420=) c.2580G>A (p.Leu860=) c.1383G>A (p.Leu461=) c.1158G>A (p.Leu386=) c.1350G>A (p.Leu450=) c.1098G>A (p.Leu366=) c.1086G>A (p.Leu362=) | |
15 | g.42777076A>C | CA392015015 | TTBK2 | c.1364T>G (p.Leu455Arg) c.1259T>G (p.Leu420Arg) c.2579T>G (p.Leu860Arg) c.1382T>G (p.Leu461Arg) c.1157T>G (p.Leu386Arg) c.1349T>G (p.Leu450Arg) c.1097T>G (p.Leu366Arg) c.1085T>G (p.Leu362Arg) | |
15 | g.42777076A>G | CA392015009 | TTBK2 | c.1364T>C (p.Leu455Pro) c.1259T>C (p.Leu420Pro) c.2579T>C (p.Leu860Pro) c.1382T>C (p.Leu461Pro) c.1157T>C (p.Leu386Pro) c.1349T>C (p.Leu450Pro) c.1097T>C (p.Leu366Pro) c.1085T>C (p.Leu362Pro) | gnomAD v4 |
15 | g.42777076A>T | CA392015013 | TTBK2 | c.1364T>A (p.Leu455Gln) c.1259T>A (p.Leu420Gln) c.2579T>A (p.Leu860Gln) c.1382T>A (p.Leu461Gln) c.1157T>A (p.Leu386Gln) c.1349T>A (p.Leu450Gln) c.1097T>A (p.Leu366Gln) c.1085T>A (p.Leu362Gln) | |
15 | g.42777077G>A | CA489892915 | TTBK2 | c.1363C>T (p.Leu455=) c.1258C>T (p.Leu420=) c.2578C>T (p.Leu860=) c.1381C>T (p.Leu461=) c.1156C>T (p.Leu386=) c.1348C>T (p.Leu450=) c.1096C>T (p.Leu366=) c.1084C>T (p.Leu362=) | |
15 | g.42777077G>C | CA269888772 | TTBK2 | c.1363C>G (p.Leu455Val) c.1258C>G (p.Leu420Val) c.2578C>G (p.Leu860Val) c.1381C>G (p.Leu461Val) c.1156C>G (p.Leu386Val) c.1348C>G (p.Leu450Val) c.1096C>G (p.Leu366Val) c.1084C>G (p.Leu362Val) | dbSNP |
15 | g.42777077G= | CA2172895192 | TTBK2 | c.1363C= (p.Leu455=) c.1258C= (p.Leu420=) c.2578C= (p.Leu860=) c.1381C= (p.Leu461=) c.1156C= (p.Leu386=) c.1348C= (p.Leu450=) c.1096C= (p.Leu366=) c.1084C= (p.Leu362=) | |
15 | g.42777077G>T | CA392015024 | TTBK2 | c.1363C>A (p.Leu455Met) c.1258C>A (p.Leu420Met) c.2578C>A (p.Leu860Met) c.1381C>A (p.Leu461Met) c.1156C>A (p.Leu386Met) c.1348C>A (p.Leu450Met) c.1096C>A (p.Leu366Met) c.1084C>A (p.Leu362Met) | |
15 | g.42777078A= | CA2172895195 | TTBK2 | c.1362T= (p.Arg454=) c.1257T= (p.Arg419=) c.2577T= (p.Arg859=) c.1380T= (p.Arg460=) c.1155T= (p.Arg385=) c.1347T= (p.Arg449=) c.1095T= (p.Arg365=) c.1083T= (p.Arg361=) | |
15 | g.42777078A>C | CA489892919 | TTBK2 | c.1362T>G (p.Arg454=) c.1257T>G (p.Arg419=) c.2577T>G (p.Arg859=) c.1380T>G (p.Arg460=) c.1155T>G (p.Arg385=) c.1347T>G (p.Arg449=) c.1095T>G (p.Arg365=) c.1083T>G (p.Arg361=) | |
15 | g.42777078A>G | CA489892918 | TTBK2 | c.1362T>C (p.Arg454=) c.1257T>C (p.Arg419=) c.2577T>C (p.Arg859=) c.1380T>C (p.Arg460=) c.1155T>C (p.Arg385=) c.1347T>C (p.Arg449=) c.1095T>C (p.Arg365=) c.1083T>C (p.Arg361=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777078A>T | CA489892917 | TTBK2 | c.1362T>A (p.Arg454=) c.1257T>A (p.Arg419=) c.2577T>A (p.Arg859=) c.1380T>A (p.Arg460=) c.1155T>A (p.Arg385=) c.1347T>A (p.Arg449=) c.1095T>A (p.Arg365=) c.1083T>A (p.Arg361=) | |
15 | g.42777079C>A | CA392015028 | TTBK2 | c.1361G>T (p.Arg454Leu) c.1256G>T (p.Arg419Leu) c.2576G>T (p.Arg859Leu) c.1379G>T (p.Arg460Leu) c.1154G>T (p.Arg385Leu) c.1346G>T (p.Arg449Leu) c.1094G>T (p.Arg365Leu) c.1082G>T (p.Arg361Leu) | dbSNP |
15 | g.42777079C= | CA2172895198 | TTBK2 | c.1361G= (p.Arg454=) c.1256G= (p.Arg419=) c.2576G= (p.Arg859=) c.1379G= (p.Arg460=) c.1154G= (p.Arg385=) c.1346G= (p.Arg449=) c.1094G= (p.Arg365=) c.1082G= (p.Arg361=) | |
15 | g.42777079C>G | CA392015030 | TTBK2 | c.1361G>C (p.Arg454Pro) c.1256G>C (p.Arg419Pro) c.2576G>C (p.Arg859Pro) c.1379G>C (p.Arg460Pro) c.1154G>C (p.Arg385Pro) c.1346G>C (p.Arg449Pro) c.1094G>C (p.Arg365Pro) c.1082G>C (p.Arg361Pro) | gnomAD v4 |
15 | g.42777079C>T | CA7516906 | TTBK2 | c.1361G>A (p.Arg454His) c.1256G>A (p.Arg419His) c.2576G>A (p.Arg859His) c.1379G>A (p.Arg460His) c.1154G>A (p.Arg385His) c.1346G>A (p.Arg449His) c.1094G>A (p.Arg365His) c.1082G>A (p.Arg361His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777080G>A | CA7516907 | TTBK2 | c.1360C>T (p.Arg454Cys) c.1255C>T (p.Arg419Cys) c.2575C>T (p.Arg859Cys) c.1378C>T (p.Arg460Cys) c.1153C>T (p.Arg385Cys) c.1345C>T (p.Arg449Cys) c.1093C>T (p.Arg365Cys) c.1081C>T (p.Arg361Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.42777080G>C | CA392015037 | TTBK2 | c.1360C>G (p.Arg454Gly) c.1255C>G (p.Arg419Gly) c.2575C>G (p.Arg859Gly) c.1378C>G (p.Arg460Gly) c.1153C>G (p.Arg385Gly) c.1345C>G (p.Arg449Gly) c.1093C>G (p.Arg365Gly) c.1081C>G (p.Arg361Gly) | |
15 | g.42777080G= | CA2172895205 | TTBK2 | c.1360C= (p.Arg454=) c.1255C= (p.Arg419=) c.2575C= (p.Arg859=) c.1378C= (p.Arg460=) c.1153C= (p.Arg385=) c.1345C= (p.Arg449=) c.1093C= (p.Arg365=) c.1081C= (p.Arg361=) | |
15 | g.42777080G>T | CA392015038 | TTBK2 | c.1360C>A (p.Arg454Ser) c.1255C>A (p.Arg419Ser) c.2575C>A (p.Arg859Ser) c.1378C>A (p.Arg460Ser) c.1153C>A (p.Arg385Ser) c.1345C>A (p.Arg449Ser) c.1093C>A (p.Arg365Ser) c.1081C>A (p.Arg361Ser) | |
15 | g.42777081T>A | CA392015045 | TTBK2 | c.1359A>T (p.Lys453Asn) c.1254A>T (p.Lys418Asn) c.2574A>T (p.Lys858Asn) c.1377A>T (p.Lys459Asn) c.1152A>T (p.Lys384Asn) c.1344A>T (p.Lys448Asn) c.1092A>T (p.Lys364Asn) c.1080A>T (p.Lys360Asn) | |
15 | g.42777081T>C | CA489892922 | TTBK2 | c.1359A>G (p.Lys453=) c.1254A>G (p.Lys418=) c.2574A>G (p.Lys858=) c.1377A>G (p.Lys459=) c.1152A>G (p.Lys384=) c.1344A>G (p.Lys448=) c.1092A>G (p.Lys364=) c.1080A>G (p.Lys360=) | gnomAD v4 |
15 | g.42777081T>G | CA392015047 | TTBK2 | c.1359A>C (p.Lys453Asn) c.1254A>C (p.Lys418Asn) c.2574A>C (p.Lys858Asn) c.1377A>C (p.Lys459Asn) c.1152A>C (p.Lys384Asn) c.1344A>C (p.Lys448Asn) c.1092A>C (p.Lys364Asn) c.1080A>C (p.Lys360Asn) | |
15 | g.42777082T>A | CA392015051 | TTBK2 | c.1358A>T (p.Lys453Ile) c.1253A>T (p.Lys418Ile) c.2573A>T (p.Lys858Ile) c.1376A>T (p.Lys459Ile) c.1151A>T (p.Lys384Ile) c.1343A>T (p.Lys448Ile) c.1091A>T (p.Lys364Ile) c.1079A>T (p.Lys360Ile) | |
15 | g.42777082T>C | CA392015055 | TTBK2 | c.1358A>G (p.Lys453Arg) c.1253A>G (p.Lys418Arg) c.2573A>G (p.Lys858Arg) c.1376A>G (p.Lys459Arg) c.1151A>G (p.Lys384Arg) c.1343A>G (p.Lys448Arg) c.1091A>G (p.Lys364Arg) c.1079A>G (p.Lys360Arg) | |
15 | g.42777082T>G | CA392015060 | TTBK2 | c.1358A>C (p.Lys453Thr) c.1253A>C (p.Lys418Thr) c.2573A>C (p.Lys858Thr) c.1376A>C (p.Lys459Thr) c.1151A>C (p.Lys384Thr) c.1343A>C (p.Lys448Thr) c.1091A>C (p.Lys364Thr) c.1079A>C (p.Lys360Thr) | |
15 | g.42777083T>A | CA392015063 | TTBK2 | c.1357A>T (p.Lys453Ter) c.1252A>T (p.Lys418Ter) c.2572A>T (p.Lys858Ter) c.1375A>T (p.Lys459Ter) c.1150A>T (p.Lys384Ter) c.1342A>T (p.Lys448Ter) c.1090A>T (p.Lys364Ter) c.1078A>T (p.Lys360Ter) | |
15 | g.42777083T>C | CA7516908 | TTBK2 | c.1357A>G (p.Lys453Glu) c.1252A>G (p.Lys418Glu) c.2572A>G (p.Lys858Glu) c.1375A>G (p.Lys459Glu) c.1150A>G (p.Lys384Glu) c.1342A>G (p.Lys448Glu) c.1090A>G (p.Lys364Glu) c.1078A>G (p.Lys360Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777083T>G | CA392015068 | TTBK2 | c.1357A>C (p.Lys453Gln) c.1252A>C (p.Lys418Gln) c.2572A>C (p.Lys858Gln) c.1375A>C (p.Lys459Gln) c.1150A>C (p.Lys384Gln) c.1342A>C (p.Lys448Gln) c.1090A>C (p.Lys364Gln) c.1078A>C (p.Lys360Gln) | |
15 | g.42777083T= | CA2172895211 | TTBK2 | c.1357A= (p.Lys453=) c.1252A= (p.Lys418=) c.2572A= (p.Lys858=) c.1375A= (p.Lys459=) c.1150A= (p.Lys384=) c.1342A= (p.Lys448=) c.1090A= (p.Lys364=) c.1078A= (p.Lys360=) | |
15 | g.42777084T>A | CA392015074 | TTBK2 | c.1356A>T (p.Glu452Asp) c.1251A>T (p.Glu417Asp) c.2571A>T (p.Glu857Asp) c.1374A>T (p.Glu458Asp) c.1149A>T (p.Glu383Asp) c.1341A>T (p.Glu447Asp) c.1089A>T (p.Glu363Asp) c.1077A>T (p.Glu359Asp) | |
15 | g.42777084T>C | CA489892928 | TTBK2 | c.1356A>G (p.Glu452=) c.1251A>G (p.Glu417=) c.2571A>G (p.Glu857=) c.1374A>G (p.Glu458=) c.1149A>G (p.Glu383=) c.1341A>G (p.Glu447=) c.1089A>G (p.Glu363=) c.1077A>G (p.Glu359=) | ClinVar dbSNP gnomAD v4 |
15 | g.42777084T>G | CA392015083 | TTBK2 | c.1356A>C (p.Glu452Asp) c.1251A>C (p.Glu417Asp) c.2571A>C (p.Glu857Asp) c.1374A>C (p.Glu458Asp) c.1149A>C (p.Glu383Asp) c.1341A>C (p.Glu447Asp) c.1089A>C (p.Glu363Asp) c.1077A>C (p.Glu359Asp) | |
15 | g.42777084T= | CA2172895213 | TTBK2 | c.1356A= (p.Glu452=) c.1251A= (p.Glu417=) c.2571A= (p.Glu857=) c.1374A= (p.Glu458=) c.1149A= (p.Glu383=) c.1341A= (p.Glu447=) c.1089A= (p.Glu363=) c.1077A= (p.Glu359=) | |
15 | g.42777085T>A | CA392015087 | TTBK2 | c.1355A>T (p.Glu452Val) c.1250A>T (p.Glu417Val) c.2570A>T (p.Glu857Val) c.1373A>T (p.Glu458Val) c.1148A>T (p.Glu383Val) c.1340A>T (p.Glu447Val) c.1088A>T (p.Glu363Val) c.1076A>T (p.Glu359Val) | |
15 | g.42777085T>C | CA392015089 | TTBK2 | c.1355A>G (p.Glu452Gly) c.1250A>G (p.Glu417Gly) c.2570A>G (p.Glu857Gly) c.1373A>G (p.Glu458Gly) c.1148A>G (p.Glu383Gly) c.1340A>G (p.Glu447Gly) c.1088A>G (p.Glu363Gly) c.1076A>G (p.Glu359Gly) | |
15 | g.42777085T>G | CA392015091 | TTBK2 | c.1355A>C (p.Glu452Ala) c.1250A>C (p.Glu417Ala) c.2570A>C (p.Glu857Ala) c.1373A>C (p.Glu458Ala) c.1148A>C (p.Glu383Ala) c.1340A>C (p.Glu447Ala) c.1088A>C (p.Glu363Ala) c.1076A>C (p.Glu359Ala) | |
15 | g.42777086C>A | CA392015096 | TTBK2 | c.1354G>T (p.Glu452Ter) c.1249G>T (p.Glu417Ter) c.2569G>T (p.Glu857Ter) c.1372G>T (p.Glu458Ter) c.1147G>T (p.Glu383Ter) c.1339G>T (p.Glu447Ter) c.1087G>T (p.Glu363Ter) c.1075G>T (p.Glu359Ter) | |
15 | g.42777086C= | CA2172895219 | TTBK2 | c.1354G= (p.Glu452=) c.1249G= (p.Glu417=) c.2569G= (p.Glu857=) c.1372G= (p.Glu458=) c.1147G= (p.Glu383=) c.1339G= (p.Glu447=) c.1087G= (p.Glu363=) c.1075G= (p.Glu359=) | |
15 | g.42777086C>G | CA392015103 | TTBK2 | c.1354G>C (p.Glu452Gln) c.1249G>C (p.Glu417Gln) c.2569G>C (p.Glu857Gln) c.1372G>C (p.Glu458Gln) c.1147G>C (p.Glu383Gln) c.1339G>C (p.Glu447Gln) c.1087G>C (p.Glu363Gln) c.1075G>C (p.Glu359Gln) | |
15 | g.42777086C>T | CA7516909 | TTBK2 | c.1354G>A (p.Glu452Lys) c.1249G>A (p.Glu417Lys) c.2569G>A (p.Glu857Lys) c.1372G>A (p.Glu458Lys) c.1147G>A (p.Glu383Lys) c.1339G>A (p.Glu447Lys) c.1087G>A (p.Glu363Lys) c.1075G>A (p.Glu359Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777087C>A | CA489892930 | TTBK2 | c.1353G>T (p.Leu451=) c.1248G>T (p.Leu416=) c.2568G>T (p.Leu856=) c.1371G>T (p.Leu457=) c.1146G>T (p.Leu382=) c.1338G>T (p.Leu446=) c.1086G>T (p.Leu362=) c.1074G>T (p.Leu358=) | |
15 | g.42777087C= | CA2172895223 | TTBK2 | c.1353G= (p.Leu451=) c.1248G= (p.Leu416=) c.2568G= (p.Leu856=) c.1371G= (p.Leu457=) c.1146G= (p.Leu382=) c.1338G= (p.Leu446=) c.1086G= (p.Leu362=) c.1074G= (p.Leu358=) | |
15 | g.42777087C>G | CA489892931 | TTBK2 | c.1353G>C (p.Leu451=) c.1248G>C (p.Leu416=) c.2568G>C (p.Leu856=) c.1371G>C (p.Leu457=) c.1146G>C (p.Leu382=) c.1338G>C (p.Leu446=) c.1086G>C (p.Leu362=) c.1074G>C (p.Leu358=) | |
15 | g.42777087C>T | CA7516910 | TTBK2 | c.1353G>A (p.Leu451=) c.1248G>A (p.Leu416=) c.2568G>A (p.Leu856=) c.1371G>A (p.Leu457=) c.1146G>A (p.Leu382=) c.1338G>A (p.Leu446=) c.1086G>A (p.Leu362=) c.1074G>A (p.Leu358=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.42777088A= | CA2172895225 | TTBK2 | c.1352T= (p.Leu451=) c.1247T= (p.Leu416=) c.2567T= (p.Leu856=) c.1370T= (p.Leu457=) c.1145T= (p.Leu382=) c.1337T= (p.Leu446=) c.1085T= (p.Leu362=) c.1073T= (p.Leu358=) | |
15 | g.42777088A>C | CA392015113 | TTBK2 | c.1352T>G (p.Leu451Arg) c.1247T>G (p.Leu416Arg) c.2567T>G (p.Leu856Arg) c.1370T>G (p.Leu457Arg) c.1145T>G (p.Leu382Arg) c.1337T>G (p.Leu446Arg) c.1085T>G (p.Leu362Arg) c.1073T>G (p.Leu358Arg) | |
15 | g.42777088A>G | CA392015114 | TTBK2 | c.1352T>C (p.Leu451Pro) c.1247T>C (p.Leu416Pro) c.2567T>C (p.Leu856Pro) c.1370T>C (p.Leu457Pro) c.1145T>C (p.Leu382Pro) c.1337T>C (p.Leu446Pro) c.1085T>C (p.Leu362Pro) c.1073T>C (p.Leu358Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.42777088A>T | CA392015115 | TTBK2 | c.1352T>A (p.Leu451Gln) c.1247T>A (p.Leu416Gln) c.2567T>A (p.Leu856Gln) c.1370T>A (p.Leu457Gln) c.1145T>A (p.Leu382Gln) c.1337T>A (p.Leu446Gln) c.1085T>A (p.Leu362Gln) c.1073T>A (p.Leu358Gln) | |
15 | g.42777089G>A | CA269888806 | TTBK2 | c.1351C>T (p.Leu451=) c.1246C>T (p.Leu416=) c.2566C>T (p.Leu856=) c.1369C>T (p.Leu457=) c.1144C>T (p.Leu382=) c.1336C>T (p.Leu446=) c.1084C>T (p.Leu362=) c.1072C>T (p.Leu358=) | dbSNP gnomAD v4 |
15 | g.42777089G>C | CA392015118 | TTBK2 | c.1351C>G (p.Leu451Val) c.1246C>G (p.Leu416Val) c.2566C>G (p.Leu856Val) c.1369C>G (p.Leu457Val) c.1144C>G (p.Leu382Val) c.1336C>G (p.Leu446Val) c.1084C>G (p.Leu362Val) c.1072C>G (p.Leu358Val) | |
15 | g.42777089G= | CA2172895230 | TTBK2 | c.1351C= (p.Leu451=) c.1246C= (p.Leu416=) c.2566C= (p.Leu856=) c.1369C= (p.Leu457=) c.1144C= (p.Leu382=) c.1336C= (p.Leu446=) c.1084C= (p.Leu362=) c.1072C= (p.Leu358=) | |
15 | g.42777089G>T | CA392015122 | TTBK2 | c.1351C>A (p.Leu451Met) c.1246C>A (p.Leu416Met) c.2566C>A (p.Leu856Met) c.1369C>A (p.Leu457Met) c.1144C>A (p.Leu382Met) c.1336C>A (p.Leu446Met) c.1084C>A (p.Leu362Met) c.1072C>A (p.Leu358Met) | |
15 | g.42777090C>A | CA392015129 | TTBK2 | c.1350G>T (p.Glu450Asp) c.1245G>T (p.Glu415Asp) c.2565G>T (p.Glu855Asp) c.1368G>T (p.Glu456Asp) c.1143G>T (p.Glu381Asp) c.1335G>T (p.Glu445Asp) c.1083G>T (p.Glu361Asp) c.1071G>T (p.Glu357Asp) | |
15 | g.42777090C>G | CA392015132 | TTBK2 | c.1350G>C (p.Glu450Asp) c.1245G>C (p.Glu415Asp) c.2565G>C (p.Glu855Asp) c.1368G>C (p.Glu456Asp) c.1143G>C (p.Glu381Asp) c.1335G>C (p.Glu445Asp) c.1083G>C (p.Glu361Asp) c.1071G>C (p.Glu357Asp) | |
15 | g.42777090C>T | CA489892935 | TTBK2 | c.1350G>A (p.Glu450=) c.1245G>A (p.Glu415=) c.2565G>A (p.Glu855=) c.1368G>A (p.Glu456=) c.1143G>A (p.Glu381=) c.1335G>A (p.Glu445=) c.1083G>A (p.Glu361=) c.1071G>A (p.Glu357=) | |
15 | g.42777091T>A | CA392015137 | TTBK2 | c.1349A>T (p.Glu450Val) c.1244A>T (p.Glu415Val) c.2564A>T (p.Glu855Val) c.1367A>T (p.Glu456Val) c.1142A>T (p.Glu381Val) c.1334A>T (p.Glu445Val) c.1082A>T (p.Glu361Val) c.1070A>T (p.Glu357Val) | |
15 | g.42777091T>C | CA392015140 | TTBK2 | c.1349A>G (p.Glu450Gly) c.1244A>G (p.Glu415Gly) c.2564A>G (p.Glu855Gly) c.1367A>G (p.Glu456Gly) c.1142A>G (p.Glu381Gly) c.1334A>G (p.Glu445Gly) c.1082A>G (p.Glu361Gly) c.1070A>G (p.Glu357Gly) | |
15 | g.42777091T>G | CA392015144 | TTBK2 | c.1349A>C (p.Glu450Ala) c.1244A>C (p.Glu415Ala) c.2564A>C (p.Glu855Ala) c.1367A>C (p.Glu456Ala) c.1142A>C (p.Glu381Ala) c.1334A>C (p.Glu445Ala) c.1082A>C (p.Glu361Ala) c.1070A>C (p.Glu357Ala) | |
15 | g.42777092C>A | CA392015158 | TTBK2 | c.1348G>T (p.Glu450Ter) c.1243G>T (p.Glu415Ter) c.2563G>T (p.Glu855Ter) c.1366G>T (p.Glu456Ter) c.1141G>T (p.Glu381Ter) c.1333G>T (p.Glu445Ter) c.1081G>T (p.Glu361Ter) c.1069G>T (p.Glu357Ter) | |
15 | g.42777092C>G | CA392015154 | TTBK2 | c.1348G>C (p.Glu450Gln) c.1243G>C (p.Glu415Gln) c.2563G>C (p.Glu855Gln) c.1366G>C (p.Glu456Gln) c.1141G>C (p.Glu381Gln) c.1333G>C (p.Glu445Gln) c.1081G>C (p.Glu361Gln) c.1069G>C (p.Glu357Gln) | gnomAD v4 |
15 | g.42777092C>T | CA392015151 | TTBK2 | c.1348G>A (p.Glu450Lys) c.1243G>A (p.Glu415Lys) c.2563G>A (p.Glu855Lys) c.1366G>A (p.Glu456Lys) c.1141G>A (p.Glu381Lys) c.1333G>A (p.Glu445Lys) c.1081G>A (p.Glu361Lys) c.1069G>A (p.Glu357Lys) | |
15 | g.42777093A>C | CA392015163 | TTBK2 | c.1347T>G (p.Phe449Leu) c.1242T>G (p.Phe414Leu) c.2562T>G (p.Phe854Leu) c.1365T>G (p.Phe455Leu) c.1140T>G (p.Phe380Leu) c.1332T>G (p.Phe444Leu) c.1080T>G (p.Phe360Leu) c.1068T>G (p.Phe356Leu) | |
15 | g.42777093A>G | CA489892939 | TTBK2 | c.1347T>C (p.Phe449=) c.1242T>C (p.Phe414=) c.2562T>C (p.Phe854=) c.1365T>C (p.Phe455=) c.1140T>C (p.Phe380=) c.1332T>C (p.Phe444=) c.1080T>C (p.Phe360=) c.1068T>C (p.Phe356=) | |
15 | g.42777093A>T | CA392015167 | TTBK2 | c.1347T>A (p.Phe449Leu) c.1242T>A (p.Phe414Leu) c.2562T>A (p.Phe854Leu) c.1365T>A (p.Phe455Leu) c.1140T>A (p.Phe380Leu) c.1332T>A (p.Phe444Leu) c.1080T>A (p.Phe360Leu) c.1068T>A (p.Phe356Leu) | |
15 | g.42777094A>C | CA392015172 | TTBK2 | c.1346T>G (p.Phe449Cys) c.1241T>G (p.Phe414Cys) c.2561T>G (p.Phe854Cys) c.1364T>G (p.Phe455Cys) c.1139T>G (p.Phe380Cys) c.1331T>G (p.Phe444Cys) c.1079T>G (p.Phe360Cys) c.1067T>G (p.Phe356Cys) | |
15 | g.42777094A>G | CA392015174 | TTBK2 | c.1346T>C (p.Phe449Ser) c.1241T>C (p.Phe414Ser) c.2561T>C (p.Phe854Ser) c.1364T>C (p.Phe455Ser) c.1139T>C (p.Phe380Ser) c.1331T>C (p.Phe444Ser) c.1079T>C (p.Phe360Ser) c.1067T>C (p.Phe356Ser) | |
15 | g.42777094A>T | CA392015180 | TTBK2 | c.1346T>A (p.Phe449Tyr) c.1241T>A (p.Phe414Tyr) c.2561T>A (p.Phe854Tyr) c.1364T>A (p.Phe455Tyr) c.1139T>A (p.Phe380Tyr) c.1331T>A (p.Phe444Tyr) c.1079T>A (p.Phe360Tyr) c.1067T>A (p.Phe356Tyr) | |
15 | g.42777095A>C | CA392015183 | TTBK2 | c.1345T>G (p.Phe449Val) c.1240T>G (p.Phe414Val) c.2560T>G (p.Phe854Val) c.1363T>G (p.Phe455Val) c.1138T>G (p.Phe380Val) c.1330T>G (p.Phe444Val) c.1078T>G (p.Phe360Val) c.1066T>G (p.Phe356Val) | |
15 | g.42777095A>G | CA392015187 | TTBK2 | c.1345T>C (p.Phe449Leu) c.1240T>C (p.Phe414Leu) c.2560T>C (p.Phe854Leu) c.1363T>C (p.Phe455Leu) c.1138T>C (p.Phe380Leu) c.1330T>C (p.Phe444Leu) c.1078T>C (p.Phe360Leu) c.1066T>C (p.Phe356Leu) | |
15 | g.42777095A>T | CA392015191 | TTBK2 | c.1345T>A (p.Phe449Ile) c.1240T>A (p.Phe414Ile) c.2560T>A (p.Phe854Ile) c.1363T>A (p.Phe455Ile) c.1138T>A (p.Phe380Ile) c.1330T>A (p.Phe444Ile) c.1078T>A (p.Phe360Ile) c.1066T>A (p.Phe356Ile) | |
15 | g.42777096G>A | CA489892942 | TTBK2 | c.1344C>T (p.Ser448=) c.1239C>T (p.Ser413=) c.2559C>T (p.Ser853=) c.1362C>T (p.Ser454=) c.1137C>T (p.Ser379=) c.1329C>T (p.Ser443=) c.1077C>T (p.Ser359=) c.1065C>T (p.Ser355=) | |
15 | g.42777096G>C | CA392015195 | TTBK2 | c.1344C>G (p.Ser448Arg) c.1239C>G (p.Ser413Arg) c.2559C>G (p.Ser853Arg) c.1362C>G (p.Ser454Arg) c.1137C>G (p.Ser379Arg) c.1329C>G (p.Ser443Arg) c.1077C>G (p.Ser359Arg) c.1065C>G (p.Ser355Arg) | |
15 | g.42777096G>T | CA392015199 | TTBK2 | c.1344C>A (p.Ser448Arg) c.1239C>A (p.Ser413Arg) c.2559C>A (p.Ser853Arg) c.1362C>A (p.Ser454Arg) c.1137C>A (p.Ser379Arg) c.1329C>A (p.Ser443Arg) c.1077C>A (p.Ser359Arg) c.1065C>A (p.Ser355Arg) | |
15 | g.42777097C>A | CA392015203 | TTBK2 | c.1343G>T (p.Ser448Ile) c.1238G>T (p.Ser413Ile) c.2558G>T (p.Ser853Ile) c.1361G>T (p.Ser454Ile) c.1136G>T (p.Ser379Ile) c.1328G>T (p.Ser443Ile) c.1076G>T (p.Ser359Ile) c.1064G>T (p.Ser355Ile) | |
15 | g.42777097C>G | CA392015208 | TTBK2 | c.1343G>C (p.Ser448Thr) c.1238G>C (p.Ser413Thr) c.2558G>C (p.Ser853Thr) c.1361G>C (p.Ser454Thr) c.1136G>C (p.Ser379Thr) c.1328G>C (p.Ser443Thr) c.1076G>C (p.Ser359Thr) c.1064G>C (p.Ser355Thr) | |
15 | g.42777097C>T | CA392015214 | TTBK2 | c.1343G>A (p.Ser448Asn) c.1238G>A (p.Ser413Asn) c.2558G>A (p.Ser853Asn) c.1361G>A (p.Ser454Asn) c.1136G>A (p.Ser379Asn) c.1328G>A (p.Ser443Asn) c.1076G>A (p.Ser359Asn) c.1064G>A (p.Ser355Asn) | |
15 | g.42777098T>A | CA392015217 | TTBK2 | c.1342A>T (p.Ser448Cys) c.1237A>T (p.Ser413Cys) c.2557A>T (p.Ser853Cys) c.1360A>T (p.Ser454Cys) c.1135A>T (p.Ser379Cys) c.1327A>T (p.Ser443Cys) c.1075A>T (p.Ser359Cys) c.1063A>T (p.Ser355Cys) | |
15 | g.42777098T>C | CA269888809 | TTBK2 | c.1342A>G (p.Ser448Gly) c.1237A>G (p.Ser413Gly) c.2557A>G (p.Ser853Gly) c.1360A>G (p.Ser454Gly) c.1135A>G (p.Ser379Gly) c.1327A>G (p.Ser443Gly) c.1075A>G (p.Ser359Gly) c.1063A>G (p.Ser355Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.42777098T>G | CA392015216 | TTBK2 | c.1342A>C (p.Ser448Arg) c.1237A>C (p.Ser413Arg) c.2557A>C (p.Ser853Arg) c.1360A>C (p.Ser454Arg) c.1135A>C (p.Ser379Arg) c.1327A>C (p.Ser443Arg) c.1075A>C (p.Ser359Arg) c.1063A>C (p.Ser355Arg) | |
15 | g.42777098T= | CA2172895235 | TTBK2 | c.1342A= (p.Ser448=) c.1237A= (p.Ser413=) c.2557A= (p.Ser853=) c.1360A= (p.Ser454=) c.1135A= (p.Ser379=) c.1327A= (p.Ser443=) c.1075A= (p.Ser359=) c.1063A= (p.Ser355=) | |
15 | g.42777099G>A | CA489892949 | TTBK2 | c.1341C>T (p.His447=) c.1236C>T (p.His412=) c.2556C>T (p.His852=) c.1359C>T (p.His453=) c.1134C>T (p.His378=) c.1326C>T (p.His442=) c.1074C>T (p.His358=) c.1062C>T (p.His354=) | |
15 | g.42777099G>C | CA392015224 | TTBK2 | c.1341C>G (p.His447Gln) c.1236C>G (p.His412Gln) c.2556C>G (p.His852Gln) c.1359C>G (p.His453Gln) c.1134C>G (p.His378Gln) c.1326C>G (p.His442Gln) c.1074C>G (p.His358Gln) c.1062C>G (p.His354Gln) | |
15 | g.42777099G>T | CA392015222 | TTBK2 | c.1341C>A (p.His447Gln) c.1236C>A (p.His412Gln) c.2556C>A (p.His852Gln) c.1359C>A (p.His453Gln) c.1134C>A (p.His378Gln) c.1326C>A (p.His442Gln) c.1074C>A (p.His358Gln) c.1062C>A (p.His354Gln) | |
15 | g.42777100T>A | CA392015238 | TTBK2 | c.1340A>T (p.His447Leu) c.1235A>T (p.His412Leu) c.2555A>T (p.His852Leu) c.1358A>T (p.His453Leu) c.1133A>T (p.His378Leu) c.1325A>T (p.His442Leu) c.1073A>T (p.His358Leu) c.1061A>T (p.His354Leu) | |
15 | g.42777100T>C | CA392015231 | TTBK2 | c.1340A>G (p.His447Arg) c.1235A>G (p.His412Arg) c.2555A>G (p.His852Arg) c.1358A>G (p.His453Arg) c.1133A>G (p.His378Arg) c.1325A>G (p.His442Arg) c.1073A>G (p.His358Arg) c.1061A>G (p.His354Arg) | |
15 | g.42777100T>G | CA392015240 | TTBK2 | c.1340A>C (p.His447Pro) c.1235A>C (p.His412Pro) c.2555A>C (p.His852Pro) c.1358A>C (p.His453Pro) c.1133A>C (p.His378Pro) c.1325A>C (p.His442Pro) c.1073A>C (p.His358Pro) c.1061A>C (p.His354Pro) | gnomAD v4 |
15 | g.42777101G>A | CA392015244 | TTBK2 | c.1339C>T (p.His447Tyr) c.1234C>T (p.His412Tyr) c.2554C>T (p.His852Tyr) c.1357C>T (p.His453Tyr) c.1132C>T (p.His378Tyr) c.1324C>T (p.His442Tyr) c.1072C>T (p.His358Tyr) c.1060C>T (p.His354Tyr) | dbSNP gnomAD v4 |
15 | g.42777101G>C | CA392015252 | TTBK2 | c.1339C>G (p.His447Asp) c.1234C>G (p.His412Asp) c.2554C>G (p.His852Asp) c.1357C>G (p.His453Asp) c.1132C>G (p.His378Asp) c.1324C>G (p.His442Asp) c.1072C>G (p.His358Asp) c.1060C>G (p.His354Asp) | |
15 | g.42777101G= | CA2172895239 | TTBK2 | c.1339C= (p.His447=) c.1234C= (p.His412=) c.2554C= (p.His852=) c.1357C= (p.His453=) c.1132C= (p.His378=) c.1324C= (p.His442=) c.1072C= (p.His358=) c.1060C= (p.His354=) | |
15 | g.42777101G>T | CA392015249 | TTBK2 | c.1339C>A (p.His447Asn) c.1234C>A (p.His412Asn) c.2554C>A (p.His852Asn) c.1357C>A (p.His453Asn) c.1132C>A (p.His378Asn) c.1324C>A (p.His442Asn) c.1072C>A (p.His358Asn) c.1060C>A (p.His354Asn) | |
15 | g.42777102A>C | CA392015257 | TTBK2 | c.1338T>G (p.Ile446Met) c.1233T>G (p.Ile411Met) c.2553T>G (p.Ile851Met) c.1356T>G (p.Ile452Met) c.1131T>G (p.Ile377Met) c.1323T>G (p.Ile441Met) c.1071T>G (p.Ile357Met) c.1059T>G (p.Ile353Met) | |
15 | g.42777102A>G | CA489892951 | TTBK2 | c.1338T>C (p.Ile446=) c.1233T>C (p.Ile411=) c.2553T>C (p.Ile851=) c.1356T>C (p.Ile452=) c.1131T>C (p.Ile377=) c.1323T>C (p.Ile441=) c.1071T>C (p.Ile357=) c.1059T>C (p.Ile353=) | |
15 | g.42777102A>T | CA489892952 | TTBK2 | c.1338T>A (p.Ile446=) c.1233T>A (p.Ile411=) c.2553T>A (p.Ile851=) c.1356T>A (p.Ile452=) c.1131T>A (p.Ile377=) c.1323T>A (p.Ile441=) c.1071T>A (p.Ile357=) c.1059T>A (p.Ile353=) | |
15 | g.42777103A>C | CA392015270 | TTBK2 | c.1337T>G (p.Ile446Ser) c.1232T>G (p.Ile411Ser) c.2552T>G (p.Ile851Ser) c.1355T>G (p.Ile452Ser) c.1130T>G (p.Ile377Ser) c.1322T>G (p.Ile441Ser) c.1070T>G (p.Ile357Ser) c.1058T>G (p.Ile353Ser) | |
15 | g.42777103A>G | CA392015261 | TTBK2 | c.1337T>C (p.Ile446Thr) c.1232T>C (p.Ile411Thr) c.2552T>C (p.Ile851Thr) c.1355T>C (p.Ile452Thr) c.1130T>C (p.Ile377Thr) c.1322T>C (p.Ile441Thr) c.1070T>C (p.Ile357Thr) c.1058T>C (p.Ile353Thr) | gnomAD v4 |
15 | g.42777103A>T | CA392015265 | TTBK2 | c.1337T>A (p.Ile446Asn) c.1232T>A (p.Ile411Asn) c.2552T>A (p.Ile851Asn) c.1355T>A (p.Ile452Asn) c.1130T>A (p.Ile377Asn) c.1322T>A (p.Ile441Asn) c.1070T>A (p.Ile357Asn) c.1058T>A (p.Ile353Asn) | |
15 | g.42777104T>A | CA392015273 | TTBK2 | c.1336A>T (p.Ile446Phe) c.1231A>T (p.Ile411Phe) c.2551A>T (p.Ile851Phe) c.1354A>T (p.Ile452Phe) c.1129A>T (p.Ile377Phe) c.1321A>T (p.Ile441Phe) c.1069A>T (p.Ile357Phe) c.1057A>T (p.Ile353Phe) | |
15 | g.42777104T>C | CA392015276 | TTBK2 | c.1336A>G (p.Ile446Val) c.1231A>G (p.Ile411Val) c.2551A>G (p.Ile851Val) c.1354A>G (p.Ile452Val) c.1129A>G (p.Ile377Val) c.1321A>G (p.Ile441Val) c.1069A>G (p.Ile357Val) c.1057A>G (p.Ile353Val) | gnomAD v4 |
15 | g.42777104T>G | CA392015278 | TTBK2 | c.1336A>C (p.Ile446Leu) c.1231A>C (p.Ile411Leu) c.2551A>C (p.Ile851Leu) c.1354A>C (p.Ile452Leu) c.1129A>C (p.Ile377Leu) c.1321A>C (p.Ile441Leu) c.1069A>C (p.Ile357Leu) c.1057A>C (p.Ile353Leu) | |
15 | g.42777105G>A | CA489892955 | TTBK2 | c.1335C>T (p.Ser445=) c.1230C>T (p.Ser410=) c.2550C>T (p.Ser850=) c.1353C>T (p.Ser451=) c.1128C>T (p.Ser376=) c.1320C>T (p.Ser440=) c.1068C>T (p.Ser356=) c.1056C>T (p.Ser352=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777105G>C | CA489892954 | TTBK2 | c.1335C>G (p.Ser445=) c.1230C>G (p.Ser410=) c.2550C>G (p.Ser850=) c.1353C>G (p.Ser451=) c.1128C>G (p.Ser376=) c.1320C>G (p.Ser440=) c.1068C>G (p.Ser356=) c.1056C>G (p.Ser352=) | |
15 | g.42777105G= | CA2172895243 | TTBK2 | c.1335C= (p.Ser445=) c.1230C= (p.Ser410=) c.2550C= (p.Ser850=) c.1353C= (p.Ser451=) c.1128C= (p.Ser376=) c.1320C= (p.Ser440=) c.1068C= (p.Ser356=) c.1056C= (p.Ser352=) | |
15 | g.42777105G>T | CA489892953 | TTBK2 | c.1335C>A (p.Ser445=) c.1230C>A (p.Ser410=) c.2550C>A (p.Ser850=) c.1353C>A (p.Ser451=) c.1128C>A (p.Ser376=) c.1320C>A (p.Ser440=) c.1068C>A (p.Ser356=) c.1056C>A (p.Ser352=) | |
15 | g.42777106G>A | CA392015287 | TTBK2 | c.1334C>T (p.Ser445Phe) c.1229C>T (p.Ser410Phe) c.2549C>T (p.Ser850Phe) c.1352C>T (p.Ser451Phe) c.1127C>T (p.Ser376Phe) c.1319C>T (p.Ser440Phe) c.1067C>T (p.Ser356Phe) c.1055C>T (p.Ser352Phe) | gnomAD v4 |
15 | g.42777106G>C | CA392015284 | TTBK2 | c.1334C>G (p.Ser445Cys) c.1229C>G (p.Ser410Cys) c.2549C>G (p.Ser850Cys) c.1352C>G (p.Ser451Cys) c.1127C>G (p.Ser376Cys) c.1319C>G (p.Ser440Cys) c.1067C>G (p.Ser356Cys) c.1055C>G (p.Ser352Cys) | gnomAD v4 |
15 | g.42777106G>T | CA392015282 | TTBK2 | c.1334C>A (p.Ser445Tyr) c.1229C>A (p.Ser410Tyr) c.2549C>A (p.Ser850Tyr) c.1352C>A (p.Ser451Tyr) c.1127C>A (p.Ser376Tyr) c.1319C>A (p.Ser440Tyr) c.1067C>A (p.Ser356Tyr) c.1055C>A (p.Ser352Tyr) | |
15 | g.42777107A>C | CA392015290 | TTBK2 | c.1333T>G (p.Ser445Ala) c.1228T>G (p.Ser410Ala) c.2548T>G (p.Ser850Ala) c.1351T>G (p.Ser451Ala) c.1126T>G (p.Ser376Ala) c.1318T>G (p.Ser440Ala) c.1066T>G (p.Ser356Ala) c.1054T>G (p.Ser352Ala) | |
15 | g.42777107A>G | CA392015293 | TTBK2 | c.1333T>C (p.Ser445Pro) c.1228T>C (p.Ser410Pro) c.2548T>C (p.Ser850Pro) c.1351T>C (p.Ser451Pro) c.1126T>C (p.Ser376Pro) c.1318T>C (p.Ser440Pro) c.1066T>C (p.Ser356Pro) c.1054T>C (p.Ser352Pro) | |
15 | g.42777107A>T | CA392015296 | TTBK2 | c.1333T>A (p.Ser445Thr) c.1228T>A (p.Ser410Thr) c.2548T>A (p.Ser850Thr) c.1351T>A (p.Ser451Thr) c.1126T>A (p.Ser376Thr) c.1318T>A (p.Ser440Thr) c.1066T>A (p.Ser356Thr) c.1054T>A (p.Ser352Thr) | gnomAD v4 |
15 | g.42777108A>C | CA489892956 | TTBK2 | c.1332T>G (p.Arg444=) c.1227T>G (p.Arg409=) c.2547T>G (p.Arg849=) c.1350T>G (p.Arg450=) c.1125T>G (p.Arg375=) c.1317T>G (p.Arg439=) c.1065T>G (p.Arg355=) c.1053T>G (p.Arg351=) | |
15 | g.42777108A>G | CA489892957 | TTBK2 | c.1332T>C (p.Arg444=) c.1227T>C (p.Arg409=) c.2547T>C (p.Arg849=) c.1350T>C (p.Arg450=) c.1125T>C (p.Arg375=) c.1317T>C (p.Arg439=) c.1065T>C (p.Arg355=) c.1053T>C (p.Arg351=) | |
15 | g.42777108A>T | CA489892958 | TTBK2 | c.1332T>A (p.Arg444=) c.1227T>A (p.Arg409=) c.2547T>A (p.Arg849=) c.1350T>A (p.Arg450=) c.1125T>A (p.Arg375=) c.1317T>A (p.Arg439=) c.1065T>A (p.Arg355=) c.1053T>A (p.Arg351=) | |
15 | g.42777109C>A | CA392015299 | TTBK2 | c.1331G>T (p.Arg444Leu) c.1226G>T (p.Arg409Leu) c.2546G>T (p.Arg849Leu) c.1349G>T (p.Arg450Leu) c.1124G>T (p.Arg375Leu) c.1316G>T (p.Arg439Leu) c.1064G>T (p.Arg355Leu) c.1052G>T (p.Arg351Leu) | |
15 | g.42777109C= | CA2172895246 | TTBK2 | c.1331G= (p.Arg444=) c.1226G= (p.Arg409=) c.2546G= (p.Arg849=) c.1349G= (p.Arg450=) c.1124G= (p.Arg375=) c.1316G= (p.Arg439=) c.1064G= (p.Arg355=) c.1052G= (p.Arg351=) | |
15 | g.42777109C>G | CA392015302 | TTBK2 | c.1331G>C (p.Arg444Pro) c.1226G>C (p.Arg409Pro) c.2546G>C (p.Arg849Pro) c.1349G>C (p.Arg450Pro) c.1124G>C (p.Arg375Pro) c.1316G>C (p.Arg439Pro) c.1064G>C (p.Arg355Pro) c.1052G>C (p.Arg351Pro) | |
15 | g.42777109C>T | CA269888814 | TTBK2 | c.1331G>A (p.Arg444His) c.1226G>A (p.Arg409His) c.2546G>A (p.Arg849His) c.1349G>A (p.Arg450His) c.1124G>A (p.Arg375His) c.1316G>A (p.Arg439His) c.1064G>A (p.Arg355His) c.1052G>A (p.Arg351His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777110G>A | CA7516911 | TTBK2 | c.1330C>T (p.Arg444Cys) c.1225C>T (p.Arg409Cys) c.2545C>T (p.Arg849Cys) c.1348C>T (p.Arg450Cys) c.1123C>T (p.Arg375Cys) c.1315C>T (p.Arg439Cys) c.1063C>T (p.Arg355Cys) c.1051C>T (p.Arg351Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777110G>C | CA392015313 | TTBK2 | c.1330C>G (p.Arg444Gly) c.1225C>G (p.Arg409Gly) c.2545C>G (p.Arg849Gly) c.1348C>G (p.Arg450Gly) c.1123C>G (p.Arg375Gly) c.1315C>G (p.Arg439Gly) c.1063C>G (p.Arg355Gly) c.1051C>G (p.Arg351Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.42777110G= | CA2172895252 | TTBK2 | c.1330C= (p.Arg444=) c.1225C= (p.Arg409=) c.2545C= (p.Arg849=) c.1348C= (p.Arg450=) c.1123C= (p.Arg375=) c.1315C= (p.Arg439=) c.1063C= (p.Arg355=) c.1051C= (p.Arg351=) | |
15 | g.42777110G>T | CA392015311 | TTBK2 | c.1330C>A (p.Arg444Ser) c.1225C>A (p.Arg409Ser) c.2545C>A (p.Arg849Ser) c.1348C>A (p.Arg450Ser) c.1123C>A (p.Arg375Ser) c.1315C>A (p.Arg439Ser) c.1063C>A (p.Arg355Ser) c.1051C>A (p.Arg351Ser) | |
15 | g.42777111T>A | CA392015320 | TTBK2 | c.1329A>T (p.Leu443Phe) c.1224A>T (p.Leu408Phe) c.2544A>T (p.Leu848Phe) c.1347A>T (p.Leu449Phe) c.1122A>T (p.Leu374Phe) c.1314A>T (p.Leu438Phe) c.1062A>T (p.Leu354Phe) c.1050A>T (p.Leu350Phe) | |
15 | g.42777111T>C | CA489892959 | TTBK2 | c.1329A>G (p.Leu443=) c.1224A>G (p.Leu408=) c.2544A>G (p.Leu848=) c.1347A>G (p.Leu449=) c.1122A>G (p.Leu374=) c.1314A>G (p.Leu438=) c.1062A>G (p.Leu354=) c.1050A>G (p.Leu350=) | gnomAD v4 |
15 | g.42777111T>G | CA392015324 | TTBK2 | c.1329A>C (p.Leu443Phe) c.1224A>C (p.Leu408Phe) c.2544A>C (p.Leu848Phe) c.1347A>C (p.Leu449Phe) c.1122A>C (p.Leu374Phe) c.1314A>C (p.Leu438Phe) c.1062A>C (p.Leu354Phe) c.1050A>C (p.Leu350Phe) | |
15 | g.42777111dup | CA339836 | TTBK2 | c.1329dup (p.Arg444ThrfsTer7) c.1224dup (p.Arg409ThrfsTer7) c.2544dup (p.Arg849ThrfsTer7) c.1347dup (p.Arg450ThrfsTer7) c.1122dup (p.Arg375ThrfsTer7) c.1314dup (p.Arg439ThrfsTer7) c.1062dup (p.Arg355ThrfsTer7) c.1050dup (p.Arg351ThrfsTer7) | ClinVar dbSNP |
15 | g.42777112A>C | CA392015328 | TTBK2 | c.1328T>G (p.Leu443Ter) c.1223T>G (p.Leu408Ter) c.2543T>G (p.Leu848Ter) c.1346T>G (p.Leu449Ter) c.1121T>G (p.Leu374Ter) c.1313T>G (p.Leu438Ter) c.1061T>G (p.Leu354Ter) c.1049T>G (p.Leu350Ter) | |
15 | g.42777112A>G | CA392015331 | TTBK2 | c.1328T>C (p.Leu443Ser) c.1223T>C (p.Leu408Ser) c.2543T>C (p.Leu848Ser) c.1346T>C (p.Leu449Ser) c.1121T>C (p.Leu374Ser) c.1313T>C (p.Leu438Ser) c.1061T>C (p.Leu354Ser) c.1049T>C (p.Leu350Ser) | |
15 | g.42777112A>T | CA392015336 | TTBK2 | c.1328T>A (p.Leu443Ter) c.1223T>A (p.Leu408Ter) c.2543T>A (p.Leu848Ter) c.1346T>A (p.Leu449Ter) c.1121T>A (p.Leu374Ter) c.1313T>A (p.Leu438Ter) c.1061T>A (p.Leu354Ter) c.1049T>A (p.Leu350Ter) | |
15 | g.42777113A= | CA2172895260 | TTBK2 | c.1327T= (p.Leu443=) c.1222T= (p.Leu408=) c.2542T= (p.Leu848=) c.1345T= (p.Leu449=) c.1120T= (p.Leu374=) c.1312T= (p.Leu438=) c.1060T= (p.Leu354=) c.1048T= (p.Leu350=) | |
15 | g.42777113A>C | CA392015339 | TTBK2 | c.1327T>G (p.Leu443Val) c.1222T>G (p.Leu408Val) c.2542T>G (p.Leu848Val) c.1345T>G (p.Leu449Val) c.1120T>G (p.Leu374Val) c.1312T>G (p.Leu438Val) c.1060T>G (p.Leu354Val) c.1048T>G (p.Leu350Val) | COSMIC |
15 | g.42777113A>G | CA489892960 | TTBK2 | c.1327T>C (p.Leu443=) c.1222T>C (p.Leu408=) c.2542T>C (p.Leu848=) c.1345T>C (p.Leu449=) c.1120T>C (p.Leu374=) c.1312T>C (p.Leu438=) c.1060T>C (p.Leu354=) c.1048T>C (p.Leu350=) | gnomAD v4 |
15 | g.42777113A>T | CA392015343 | TTBK2 | c.1327T>A (p.Leu443Ile) c.1222T>A (p.Leu408Ile) c.2542T>A (p.Leu848Ile) c.1345T>A (p.Leu449Ile) c.1120T>A (p.Leu374Ile) c.1312T>A (p.Leu438Ile) c.1060T>A (p.Leu354Ile) c.1048T>A (p.Leu350Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.42777114C>A | CA392015346 | TTBK2 | c.1326G>T (p.Lys442Asn) c.1221G>T (p.Lys407Asn) c.2541G>T (p.Lys847Asn) c.1344G>T (p.Lys448Asn) c.1119G>T (p.Lys373Asn) c.1311G>T (p.Lys437Asn) c.1059G>T (p.Lys353Asn) c.1047G>T (p.Lys349Asn) | |
15 | g.42777114C= | CA2172895264 | TTBK2 | c.1326G= (p.Lys442=) c.1221G= (p.Lys407=) c.2541G= (p.Lys847=) c.1344G= (p.Lys448=) c.1119G= (p.Lys373=) c.1311G= (p.Lys437=) c.1059G= (p.Lys353=) c.1047G= (p.Lys349=) | |
15 | g.42777114C>G | CA7516912 | TTBK2 | c.1326G>C (p.Lys442Asn) c.1221G>C (p.Lys407Asn) c.2541G>C (p.Lys847Asn) c.1344G>C (p.Lys448Asn) c.1119G>C (p.Lys373Asn) c.1311G>C (p.Lys437Asn) c.1059G>C (p.Lys353Asn) c.1047G>C (p.Lys349Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42777114C>T | CA489892961 | TTBK2 | c.1326G>A (p.Lys442=) c.1221G>A (p.Lys407=) c.2541G>A (p.Lys847=) c.1344G>A (p.Lys448=) c.1119G>A (p.Lys373=) c.1311G>A (p.Lys437=) c.1059G>A (p.Lys353=) c.1047G>A (p.Lys349=) | |
15 | g.42777115T>A | CA392015351 | TTBK2 | c.1325A>T (p.Lys442Met) c.1220A>T (p.Lys407Met) c.2540A>T (p.Lys847Met) c.1343A>T (p.Lys448Met) c.1118A>T (p.Lys373Met) c.1310A>T (p.Lys437Met) c.1058A>T (p.Lys353Met) c.1046A>T (p.Lys349Met) | |
15 | g.42777115T>C | CA392015354 | TTBK2 | c.1325A>G (p.Lys442Arg) c.1220A>G (p.Lys407Arg) c.2540A>G (p.Lys847Arg) c.1343A>G (p.Lys448Arg) c.1118A>G (p.Lys373Arg) c.1310A>G (p.Lys437Arg) c.1058A>G (p.Lys353Arg) c.1046A>G (p.Lys349Arg) | |
15 | g.42777115T>G | CA392015352 | TTBK2 | c.1325A>C (p.Lys442Thr) c.1220A>C (p.Lys407Thr) c.2540A>C (p.Lys847Thr) c.1343A>C (p.Lys448Thr) c.1118A>C (p.Lys373Thr) c.1310A>C (p.Lys437Thr) c.1058A>C (p.Lys353Thr) c.1046A>C (p.Lys349Thr) | |
15 | g.42777116T>A | CA392015357 | TTBK2 | c.1324A>T (p.Lys442Ter) c.1219A>T (p.Lys407Ter) c.2539A>T (p.Lys847Ter) c.1342A>T (p.Lys448Ter) c.1117A>T (p.Lys373Ter) c.1309A>T (p.Lys437Ter) c.1057A>T (p.Lys353Ter) c.1045A>T (p.Lys349Ter) | |
15 | g.42777116T>C | CA392015359 | TTBK2 | c.1324A>G (p.Lys442Glu) c.1219A>G (p.Lys407Glu) c.2539A>G (p.Lys847Glu) c.1342A>G (p.Lys448Glu) c.1117A>G (p.Lys373Glu) c.1309A>G (p.Lys437Glu) c.1057A>G (p.Lys353Glu) c.1045A>G (p.Lys349Glu) | |
15 | g.42777116T>G | CA392015360 | TTBK2 | c.1324A>C (p.Lys442Gln) c.1219A>C (p.Lys407Gln) c.2539A>C (p.Lys847Gln) c.1342A>C (p.Lys448Gln) c.1117A>C (p.Lys373Gln) c.1309A>C (p.Lys437Gln) c.1057A>C (p.Lys353Gln) c.1045A>C (p.Lys349Gln) | ClinVar |