Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.42777019A=CA2172895126TTBK2c.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=)
15g.42777019A>CCA392014513TTBK2c.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)
15g.42777019A>GCA392014516TTBK2c.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
15g.42777019A>TCA392014511TTBK2c.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
15g.42777020C>ACA392014529TTBK2c.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)
15g.42777020C=CA2172895128TTBK2c.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=)
15g.42777020C>GCA392014519TTBK2c.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
15g.42777020C>TCA392014524TTBK2c.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
15g.42777021T>CCA392014532TTBK2c.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)
15g.42777022A=CA2172895131TTBK2c.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=)
15g.42777022A>CCA392014538TTBK2c.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)
15g.42777022A>GCA392014539TTBK2c.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
15g.42777022A>TCA392014541TTBK2c.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)
15g.42777023T>ACA392014549TTBK2c.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)
15g.42777023T>CCA392014543TTBK2c.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)
15g.42777023T>GCA392014546TTBK2c.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)
15g.42777024T>ACA392014554TTBK2c.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)
15g.42777024T>CCA2172895135TTBK2c.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
15g.42777024T>GCA392014555TTBK2c.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)
15g.42777024T=CA2172895134TTBK2c.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=)
15g.42777025T>ACA392014561TTBK2c.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)
15g.42777025T>CCA392014564TTBK2c.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
15g.42777025T>GCA392014566TTBK2c.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)
15g.42777026T>ACA392014571TTBK2c.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)
15g.42777026T>CCA392014575TTBK2c.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)
15g.42777026T>GCA392014573TTBK2c.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)
15g.42777027A>CCA392014578TTBK2c.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)
15g.42777027A>TCA392014579TTBK2c.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)
15g.42777028T>ACA392014585TTBK2c.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)
15g.42777028T>CCA392014587TTBK2c.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)
15g.42777028T>GCA392014591TTBK2c.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)
15g.42777028_42777030delinsTACCA2172895138TTBK2c.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)
15g.42777029A>CCA392014596TTBK2c.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)
15g.42777029A>GCA392014598TTBK2c.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)
15g.42777029A>TCA392014600TTBK2c.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)
15g.42777029_42777030delCA618002768TTBK2c.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
15g.42777030C>ACA392014604TTBK2c.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)
15g.42777030C>GCA392014606TTBK2c.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)
15g.42777030C>TCA392014608TTBK2c.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)
15g.42777031C>ACA392014619TTBK2c.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)
15g.42777031C>GCA392014615TTBK2c.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
15g.42777031C>TCA392014613TTBK2c.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)
15g.42777032A=CA2172895143TTBK2c.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=)
15g.42777032A>CCA392014622TTBK2c.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)
15g.42777032A>GCA7516901TTBK2c.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
15g.42777032A>TCA392014627TTBK2c.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)
15g.42777033G>ACA489892839TTBK2c.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=)
15g.42777033G>CCA489892840TTBK2c.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=)
15g.42777033G=CA2172895147TTBK2c.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=)
15g.42777033G>TCA7516902TTBK2c.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
15g.42777034G>ACA392014634TTBK2c.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)
15g.42777034G>CCA392014637TTBK2c.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
15g.42777034G=CA2172895150TTBK2c.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=)
15g.42777034G>TCA392014639TTBK2c.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)
15g.42777035T>ACA392014644TTBK2c.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)
15g.42777035T>CCA392014640TTBK2c.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)
15g.42777035T>GCA392014641TTBK2c.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)
15g.42777036C>ACA392014654TTBK2c.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)
15g.42777036C>GCA392014657TTBK2c.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)
15g.42777036C>TCA489892848TTBK2c.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
15g.42777037T>ACA392014658TTBK2c.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)
15g.42777037T>CCA392014659TTBK2c.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)
15g.42777037T>GCA392014661TTBK2c.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)
15g.42777038C>ACA392014667TTBK2c.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
15g.42777038C>GCA392014674TTBK2c.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)
15g.42777038C>TCA392014672TTBK2c.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)
15g.42777039A>CCA489892852TTBK2c.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=)
15g.42777039A>GCA489892853TTBK2c.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=)
15g.42777039A>TCA489892854TTBK2c.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=)
15g.42777040A=CA2172895153TTBK2c.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=)
15g.42777040A>CCA392014681TTBK2c.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)
15g.42777040A>GCA392014684TTBK2c.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
15g.42777040A>TCA392014691TTBK2c.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)
15g.42777041G>ACA7516903TTBK2c.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
15g.42777041G>CCA392014699TTBK2c.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)
15g.42777041G=CA2172895155TTBK2c.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=)
15g.42777041G>TCA392014704TTBK2c.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)
15g.42777042G>ACA489892861TTBK2c.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
15g.42777042G>CCA392014711TTBK2c.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
15g.42777042G=CA2172895160TTBK2c.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=)
15g.42777042G>TCA392014715TTBK2c.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)
15g.42777043A>CCA392014721TTBK2c.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)
15g.42777043A>GCA392014725TTBK2c.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)
15g.42777043A>TCA392014729TTBK2c.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)
15g.42777044A>CCA392014741TTBK2c.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)
15g.42777044A>GCA392014737TTBK2c.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)
15g.42777044A>TCA392014733TTBK2c.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)
15g.42777045C>ACA392014746TTBK2c.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)
15g.42777045C>GCA392014749TTBK2c.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)
15g.42777045C>TCA489892866TTBK2c.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=)
15g.42777046T>ACA392014754TTBK2c.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)
15g.42777046T>CCA392014762TTBK2c.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)
15g.42777046T>GCA392014757TTBK2c.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)
15g.42777047T>ACA392014767TTBK2c.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)
15g.42777047T>CCA392014771TTBK2c.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)
15g.42777047T>GCA392014775TTBK2c.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)
15g.42777048G>ACA489892869TTBK2c.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
15g.42777048G>CCA392014781TTBK2c.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)
15g.42777048G=CA2172895163TTBK2c.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=)
15g.42777048G>TCA392014786TTBK2c.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)
15g.42777049T>ACA392014790TTBK2c.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)
15g.42777049T>CCA392014794TTBK2c.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
15g.42777049T>GCA392014798TTBK2c.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)
15g.42777050C>ACA392014801TTBK2c.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)
15g.42777050C>GCA392014804TTBK2c.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)
15g.42777050C>TCA392014826TTBK2c.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)
15g.42777051A>CCA489892872TTBK2c.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=)
15g.42777051A>GCA489892873TTBK2c.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=)
15g.42777051A>TCA489892874TTBK2c.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=)
15g.42777052G>ACA392014837TTBK2c.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
15g.42777052G>CCA269888757TTBK2c.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
15g.42777052G=CA2172895165TTBK2c.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=)
15g.42777052G>TCA392014834TTBK2c.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)
15g.42777053T>ACA392014838TTBK2c.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)
15g.42777053T>CCA7516904TTBK2c.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
15g.42777053T>GCA392014840TTBK2c.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)
15g.42777053T=CA2172895170TTBK2c.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=)
15g.42777054G>ACA489892875TTBK2c.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
15g.42777054G>CCA392014844TTBK2c.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)
15g.42777054G>TCA392014847TTBK2c.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
15g.42777055T>ACA392014851TTBK2c.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)
15g.42777055T>CCA392014852TTBK2c.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
15g.42777055T>GCA392014854TTBK2c.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)
15g.42777056C>ACA392014856TTBK2c.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)
15g.42777056C>GCA392014859TTBK2c.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)
15g.42777056C>TCA392014862TTBK2c.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)
15g.42777057T>ACA489892878TTBK2c.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=)
15g.42777057T>CCA489892882TTBK2c.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=)
15g.42777057T>GCA489892880TTBK2c.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=)
15g.42777058G>ACA392014870TTBK2c.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)
15g.42777058G>CCA392014871TTBK2c.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)
15g.42777058G>TCA392014869TTBK2c.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)
15g.42777059G>ACA392014873TTBK2c.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)
15g.42777059G>CCA392014876TTBK2c.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
15g.42777059G>TCA392014877TTBK2c.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)
15g.42777060C>ACA392014878TTBK2c.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)
15g.42777060C=CA2172895173TTBK2c.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=)
15g.42777060C>GCA392014879TTBK2c.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)
15g.42777060C>TCA489892886TTBK2c.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
15g.42777061T>ACA392014882TTBK2c.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)
15g.42777061T>CCA392014889TTBK2c.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)
15g.42777061T>GCA392014892TTBK2c.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)
15g.42777062T>ACA392014896TTBK2c.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)
15g.42777062T>CCA392014898TTBK2c.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)
15g.42777062T>GCA392014903TTBK2c.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)
15g.42777063T>ACA489892891TTBK2c.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=)
15g.42777063T>CCA489892892TTBK2c.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=)
15g.42777063T>GCA7516905TTBK2c.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
15g.42777063T=CA2172895177TTBK2c.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=)
15g.42777064G>ACA392014915TTBK2c.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)
15g.42777064G>CCA392014919TTBK2c.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)
15g.42777064G>TCA392014912TTBK2c.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)
15g.42777065G>ACA392014925TTBK2c.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)
15g.42777065G>CCA392014932TTBK2c.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)
15g.42777065G>TCA392014935TTBK2c.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
15g.42777066C>ACA392014940TTBK2c.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)
15g.42777066C>GCA392014942TTBK2c.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)
15g.42777066C>TCA489892896TTBK2c.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
15g.42777067T>ACA392014955TTBK2c.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
15g.42777067T>CCA392014948TTBK2c.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)
15g.42777067T>GCA392014952TTBK2c.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)
15g.42777068C>ACA392014959TTBK2c.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)
15g.42777068C>GCA392014964TTBK2c.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)
15g.42777068C>TCA392014966TTBK2c.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)
15g.42777069C>ACA489892900TTBK2c.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=)
15g.42777069C>GCA489892902TTBK2c.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=)
15g.42777069C>TCA489892903TTBK2c.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=)
15g.42777070A=CA2172895180TTBK2c.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=)
15g.42777070A>CCA392014971TTBK2c.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)
15g.42777070A>GCA392014974TTBK2c.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)
15g.42777070A>TCA392014979TTBK2c.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
15g.42777071G>ACA489892904TTBK2c.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
15g.42777071G>CCA392014982TTBK2c.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
15g.42777071G=CA2172895183TTBK2c.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=)
15g.42777071G>TCA392014986TTBK2c.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
15g.42777072G>ACA489892907TTBK2c.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=)
15g.42777072G>CCA489892908TTBK2c.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
15g.42777072G=CA2172895188TTBK2c.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=)
15g.42777072G>TCA489892909TTBK2c.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
15g.42777073G>ACA392014988TTBK2c.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
15g.42777073G>CCA392014989TTBK2c.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)
15g.42777073G>TCA392014990TTBK2c.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)
15g.42777074T>ACA392014995TTBK2c.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)
15g.42777074T>CCA392015000TTBK2c.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)
15g.42777074T>GCA392015001TTBK2c.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)
15g.42777075C>ACA489892911TTBK2c.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=)
15g.42777075C>GCA489892912TTBK2c.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
15g.42777075C>TCA489892913TTBK2c.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=)
15g.42777076A>CCA392015015TTBK2c.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)
15g.42777076A>GCA392015009TTBK2c.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
15g.42777076A>TCA392015013TTBK2c.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)
15g.42777077G>ACA489892915TTBK2c.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=)
15g.42777077G>CCA269888772TTBK2c.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
15g.42777077G=CA2172895192TTBK2c.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=)
15g.42777077G>TCA392015024TTBK2c.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)
15g.42777078A=CA2172895195TTBK2c.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=)
15g.42777078A>CCA489892919TTBK2c.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=)
15g.42777078A>GCA489892918TTBK2c.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
15g.42777078A>TCA489892917TTBK2c.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=)
15g.42777079C>ACA392015028TTBK2c.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
15g.42777079C=CA2172895198TTBK2c.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=)
15g.42777079C>GCA392015030TTBK2c.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
15g.42777079C>TCA7516906TTBK2c.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
15g.42777080G>ACA7516907TTBK2c.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
15g.42777080G>CCA392015037TTBK2c.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)
15g.42777080G=CA2172895205TTBK2c.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=)
15g.42777080G>TCA392015038TTBK2c.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)
15g.42777081T>ACA392015045TTBK2c.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)
15g.42777081T>CCA489892922TTBK2c.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
15g.42777081T>GCA392015047TTBK2c.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)
15g.42777082T>ACA392015051TTBK2c.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)
15g.42777082T>CCA392015055TTBK2c.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)
15g.42777082T>GCA392015060TTBK2c.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)
15g.42777083T>ACA392015063TTBK2c.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)
15g.42777083T>CCA7516908TTBK2c.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
15g.42777083T>GCA392015068TTBK2c.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)
15g.42777083T=CA2172895211TTBK2c.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=)
15g.42777084T>ACA392015074TTBK2c.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)
15g.42777084T>CCA489892928TTBK2c.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
15g.42777084T>GCA392015083TTBK2c.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)
15g.42777084T=CA2172895213TTBK2c.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=)
15g.42777085T>ACA392015087TTBK2c.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)
15g.42777085T>CCA392015089TTBK2c.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)
15g.42777085T>GCA392015091TTBK2c.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)
15g.42777086C>ACA392015096TTBK2c.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)
15g.42777086C=CA2172895219TTBK2c.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=)
15g.42777086C>GCA392015103TTBK2c.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)
15g.42777086C>TCA7516909TTBK2c.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
15g.42777087C>ACA489892930TTBK2c.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=)
15g.42777087C=CA2172895223TTBK2c.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=)
15g.42777087C>GCA489892931TTBK2c.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=)
15g.42777087C>TCA7516910TTBK2c.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
15g.42777088A=CA2172895225TTBK2c.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=)
15g.42777088A>CCA392015113TTBK2c.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)
15g.42777088A>GCA392015114TTBK2c.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
15g.42777088A>TCA392015115TTBK2c.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)
15g.42777089G>ACA269888806TTBK2c.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
15g.42777089G>CCA392015118TTBK2c.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)
15g.42777089G=CA2172895230TTBK2c.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=)
15g.42777089G>TCA392015122TTBK2c.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)
15g.42777090C>ACA392015129TTBK2c.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)
15g.42777090C>GCA392015132TTBK2c.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)
15g.42777090C>TCA489892935TTBK2c.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=)
15g.42777091T>ACA392015137TTBK2c.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)
15g.42777091T>CCA392015140TTBK2c.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)
15g.42777091T>GCA392015144TTBK2c.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)
15g.42777092C>ACA392015158TTBK2c.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)
15g.42777092C>GCA392015154TTBK2c.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
15g.42777092C>TCA392015151TTBK2c.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)
15g.42777093A>CCA392015163TTBK2c.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)
15g.42777093A>GCA489892939TTBK2c.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=)
15g.42777093A>TCA392015167TTBK2c.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)
15g.42777094A>CCA392015172TTBK2c.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)
15g.42777094A>GCA392015174TTBK2c.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)
15g.42777094A>TCA392015180TTBK2c.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)
15g.42777095A>CCA392015183TTBK2c.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)
15g.42777095A>GCA392015187TTBK2c.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)
15g.42777095A>TCA392015191TTBK2c.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)
15g.42777096G>ACA489892942TTBK2c.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=)
15g.42777096G>CCA392015195TTBK2c.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)
15g.42777096G>TCA392015199TTBK2c.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)
15g.42777097C>ACA392015203TTBK2c.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)
15g.42777097C>GCA392015208TTBK2c.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)
15g.42777097C>TCA392015214TTBK2c.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)
15g.42777098T>ACA392015217TTBK2c.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)
15g.42777098T>CCA269888809TTBK2c.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
15g.42777098T>GCA392015216TTBK2c.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)
15g.42777098T=CA2172895235TTBK2c.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=)
15g.42777099G>ACA489892949TTBK2c.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=)
15g.42777099G>CCA392015224TTBK2c.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)
15g.42777099G>TCA392015222TTBK2c.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)
15g.42777100T>ACA392015238TTBK2c.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)
15g.42777100T>CCA392015231TTBK2c.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)
15g.42777100T>GCA392015240TTBK2c.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
15g.42777101G>ACA392015244TTBK2c.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
15g.42777101G>CCA392015252TTBK2c.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)
15g.42777101G=CA2172895239TTBK2c.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=)
15g.42777101G>TCA392015249TTBK2c.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)
15g.42777102A>CCA392015257TTBK2c.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)
15g.42777102A>GCA489892951TTBK2c.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=)
15g.42777102A>TCA489892952TTBK2c.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=)
15g.42777103A>CCA392015270TTBK2c.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)
15g.42777103A>GCA392015261TTBK2c.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
15g.42777103A>TCA392015265TTBK2c.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)
15g.42777104T>ACA392015273TTBK2c.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)
15g.42777104T>CCA392015276TTBK2c.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
15g.42777104T>GCA392015278TTBK2c.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)
15g.42777105G>ACA489892955TTBK2c.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
15g.42777105G>CCA489892954TTBK2c.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=)
15g.42777105G=CA2172895243TTBK2c.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=)
15g.42777105G>TCA489892953TTBK2c.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=)
15g.42777106G>ACA392015287TTBK2c.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
15g.42777106G>CCA392015284TTBK2c.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
15g.42777106G>TCA392015282TTBK2c.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)
15g.42777107A>CCA392015290TTBK2c.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)
15g.42777107A>GCA392015293TTBK2c.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)
15g.42777107A>TCA392015296TTBK2c.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
15g.42777108A>CCA489892956TTBK2c.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=)
15g.42777108A>GCA489892957TTBK2c.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=)
15g.42777108A>TCA489892958TTBK2c.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=)
15g.42777109C>ACA392015299TTBK2c.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)
15g.42777109C=CA2172895246TTBK2c.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=)
15g.42777109C>GCA392015302TTBK2c.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)
15g.42777109C>TCA269888814TTBK2c.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
15g.42777110G>ACA7516911TTBK2c.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
15g.42777110G>CCA392015313TTBK2c.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
15g.42777110G=CA2172895252TTBK2c.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=)
15g.42777110G>TCA392015311TTBK2c.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)
15g.42777111T>ACA392015320TTBK2c.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)
15g.42777111T>CCA489892959TTBK2c.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
15g.42777111T>GCA392015324TTBK2c.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)
15g.42777111dupCA339836TTBK2c.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
15g.42777112A>CCA392015328TTBK2c.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)
15g.42777112A>GCA392015331TTBK2c.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)
15g.42777112A>TCA392015336TTBK2c.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)
15g.42777113A=CA2172895260TTBK2c.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=)
15g.42777113A>CCA392015339TTBK2c.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
15g.42777113A>GCA489892960TTBK2c.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
15g.42777113A>TCA392015343TTBK2c.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
15g.42777114C>ACA392015346TTBK2c.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)
15g.42777114C=CA2172895264TTBK2c.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=)
15g.42777114C>GCA7516912TTBK2c.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
15g.42777114C>TCA489892961TTBK2c.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=)
15g.42777115T>ACA392015351TTBK2c.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)
15g.42777115T>CCA392015354TTBK2c.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)
15g.42777115T>GCA392015352TTBK2c.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)
15g.42777116T>ACA392015357TTBK2c.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)
15g.42777116T>CCA392015359TTBK2c.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)
15g.42777116T>GCA392015360TTBK2c.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
15g.42777117T>ACA489892962TTBK2c.1323A>T (p.Arg441=)
c.1218A>T (p.Arg406=)
c.2538A>T (p.Arg846=)
c.1341A>T (p.Arg447=)
c.1116A>T (p.Arg372=)
c.1308A>T (p.Arg436=)
c.1056A>T (p.Arg352=)
c.1044A>T (p.Arg348=)
15g.42777117T>CCA489892963TTBK2c.1323A>G (p.Arg441=)
c.1218A>G (p.Arg406=)
c.2538A>G (p.Arg846=)
c.1341A>G (p.Arg447=)
c.1116A>G (p.Arg372=)
c.1308A>G (p.Arg436=)
c.1056A>G (p.Arg352=)
c.1044A>G (p.Arg348=)
15g.42777117T>GCA489892964TTBK2c.1323A>C (p.Arg441=)
c.1218A>C (p.Arg406=)
c.2538A>C (p.Arg846=)
c.1341A>C (p.Arg447=)
c.1116A>C (p.Arg372=)
c.1308A>C (p.Arg436=)
c.1056A>C (p.Arg352=)
c.1044A>C (p.Arg348=)
15g.42777118C>ACA392015365TTBK2c.1322G>T (p.Arg441Leu)
c.1217G>T (p.Arg406Leu)
c.2537G>T (p.Arg846Leu)
c.1340G>T (p.Arg447Leu)
c.1115G>T (p.Arg372Leu)
c.1307G>T (p.Arg436Leu)
c.1055G>T (p.Arg352Leu)
c.1043G>T (p.Arg348Leu)
 gnomAD v4
15g.42777118C=CA2172895268TTBK2c.1322G= (p.Arg441=)
c.1217G= (p.Arg406=)
c.2537G= (p.Arg846=)
c.1340G= (p.Arg447=)
c.1115G= (p.Arg372=)
c.1307G= (p.Arg436=)
c.1055G= (p.Arg352=)
c.1043G= (p.Arg348=)
15g.42777118C>GCA392015368TTBK2c.1322G>C (p.Arg441Pro)
c.1217G>C (p.Arg406Pro)
c.2537G>C (p.Arg846Pro)
c.1340G>C (p.Arg447Pro)
c.1115G>C (p.Arg372Pro)
c.1307G>C (p.Arg436Pro)
c.1055G>C (p.Arg352Pro)
c.1043G>C (p.Arg348Pro)
15g.42777118C>TCA7516913TTBK2c.1322G>A (p.Arg441Gln)
c.1217G>A (p.Arg406Gln)
c.2537G>A (p.Arg846Gln)
c.1340G>A (p.Arg447Gln)
c.1115G>A (p.Arg372Gln)
c.1307G>A (p.Arg436Gln)
c.1055G>A (p.Arg352Gln)
c.1043G>A (p.Arg348Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42777119G>ACA7516914TTBK2c.1321C>T (p.Arg441Ter)
c.1216C>T (p.Arg406Ter)
c.2536C>T (p.Arg846Ter)
c.1339C>T (p.Arg447Ter)
c.1114C>T (p.Arg372Ter)
c.1306C>T (p.Arg436Ter)
c.1054C>T (p.Arg352Ter)
c.1042C>T (p.Arg348Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42777119G>CCA392015377TTBK2c.1321C>G (p.Arg441Gly)
c.1216C>G (p.Arg406Gly)
c.2536C>G (p.Arg846Gly)
c.1339C>G (p.Arg447Gly)
c.1114C>G (p.Arg372Gly)
c.1306C>G (p.Arg436Gly)
c.1054C>G (p.Arg352Gly)
c.1042C>G (p.Arg348Gly)
 dbSNP gnomAD v4
15g.42777119G=CA2172895270TTBK2c.1321C= (p.Arg441=)
c.1216C= (p.Arg406=)
c.2536C= (p.Arg846=)
c.1339C= (p.Arg447=)
c.1114C= (p.Arg372=)
c.1306C= (p.Arg436=)
c.1054C= (p.Arg352=)
c.1042C= (p.Arg348=)
15g.42777119G>TCA489892965TTBK2c.1321C>A (p.Arg441=)
c.1216C>A (p.Arg406=)
c.2536C>A (p.Arg846=)
c.1339C>A (p.Arg447=)
c.1114C>A (p.Arg372=)
c.1306C>A (p.Arg436=)
c.1054C>A (p.Arg352=)
c.1042C>A (p.Arg348=)

Number of alleles fetched