Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.132892208_132892210del | CA3408894 | AFF4 | c.2597_2599del (p.Lys866del) c.1463_1465del (p.Lys488del) c.2510_2512del (p.Lys837del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132892210T>A | CA360928500 | AFF4 | c.2591A>T (p.Gln864Leu) c.1457A>T (p.Gln486Leu) c.2504A>T (p.Gln835Leu) | |
5 | g.132892210T>C | CA360928503 | AFF4 | c.2591A>G (p.Gln864Arg) c.1457A>G (p.Gln486Arg) c.2504A>G (p.Gln835Arg) | |
5 | g.132892210T>G | CA360928506 | AFF4 | c.2591A>C (p.Gln864Pro) c.1457A>C (p.Gln486Pro) c.2504A>C (p.Gln835Pro) | gnomAD v4 |
5 | g.132892211G>A | CA360928507 | AFF4 | c.2590C>T (p.Gln864Ter) c.1456C>T (p.Gln486Ter) c.2503C>T (p.Gln835Ter) | |
5 | g.132892211G>C | CA360928510 | AFF4 | c.2590C>G (p.Gln864Glu) c.1456C>G (p.Gln486Glu) c.2503C>G (p.Gln835Glu) | ClinVar dbSNP |
5 | g.132892211G>T | CA360928512 | AFF4 | c.2590C>A (p.Gln864Lys) c.1456C>A (p.Gln486Lys) c.2503C>A (p.Gln835Lys) | |
5 | g.132892212C>A | CA360928516 | AFF4 | c.2589G>T (p.Lys863Asn) c.1455G>T (p.Lys485Asn) c.2502G>T (p.Lys834Asn) | |
5 | g.132892212C>G | CA360928518 | AFF4 | c.2589G>C (p.Lys863Asn) c.1455G>C (p.Lys485Asn) c.2502G>C (p.Lys834Asn) | |
5 | g.132892212C>T | CA446498844 | AFF4 | c.2589G>A (p.Lys863=) c.1455G>A (p.Lys485=) c.2502G>A (p.Lys834=) | gnomAD v4 |
5 | g.132892213T>A | CA360928521 | AFF4 | c.2588A>T (p.Lys863Met) c.1454A>T (p.Lys485Met) c.2501A>T (p.Lys834Met) | |
5 | g.132892213T>C | CA360928524 | AFF4 | c.2588A>G (p.Lys863Arg) c.1454A>G (p.Lys485Arg) c.2501A>G (p.Lys834Arg) | |
5 | g.132892213T>G | CA360928531 | AFF4 | c.2588A>C (p.Lys863Thr) c.1454A>C (p.Lys485Thr) c.2501A>C (p.Lys834Thr) | |
5 | g.132892214T>A | CA360928544 | AFF4 | c.2587A>T (p.Lys863Ter) c.1453A>T (p.Lys485Ter) c.2500A>T (p.Lys834Ter) | |
5 | g.132892214T>C | CA360928535 | AFF4 | c.2587A>G (p.Lys863Glu) c.1453A>G (p.Lys485Glu) c.2500A>G (p.Lys834Glu) | gnomAD v4 |
5 | g.132892214T>G | CA360928541 | AFF4 | c.2587A>C (p.Lys863Gln) c.1453A>C (p.Lys485Gln) c.2500A>C (p.Lys834Gln) | |
5 | g.132892215T>A | CA446498848 | AFF4 | c.2586A>T (p.Ser862=) c.1452A>T (p.Ser484=) c.2499A>T (p.Ser833=) | |
5 | g.132892215T>C | CA446498847 | AFF4 | c.2586A>G (p.Ser862=) c.1452A>G (p.Ser484=) c.2499A>G (p.Ser833=) | gnomAD v4 |
5 | g.132892215T>G | CA446498846 | AFF4 | c.2586A>C (p.Ser862=) c.1452A>C (p.Ser484=) c.2499A>C (p.Ser833=) | |
5 | g.132892216G>A | CA360928547 | AFF4 | c.2585C>T (p.Ser862Leu) c.1451C>T (p.Ser484Leu) c.2498C>T (p.Ser833Leu) | |
5 | g.132892216G>C | CA360928549 | AFF4 | c.2585C>G (p.Ser862Ter) c.1451C>G (p.Ser484Ter) c.2498C>G (p.Ser833Ter) | |
5 | g.132892216G>T | CA360928551 | AFF4 | c.2585C>A (p.Ser862Ter) c.1451C>A (p.Ser484Ter) c.2498C>A (p.Ser833Ter) | |
5 | g.132892217A>C | CA360928554 | AFF4 | c.2584T>G (p.Ser862Ala) c.1450T>G (p.Ser484Ala) c.2497T>G (p.Ser833Ala) | |
5 | g.132892217A>G | CA360928556 | AFF4 | c.2584T>C (p.Ser862Pro) c.1450T>C (p.Ser484Pro) c.2497T>C (p.Ser833Pro) | |
5 | g.132892217A>T | CA360928559 | AFF4 | c.2584T>A (p.Ser862Thr) c.1450T>A (p.Ser484Thr) c.2497T>A (p.Ser833Thr) | |
5 | g.132892218T>A | CA446498849 | AFF4 | c.2583A>T (p.Thr861=) c.1449A>T (p.Thr483=) c.2496A>T (p.Thr832=) | |
5 | g.132892218T>C | CA446498850 | AFF4 | c.2583A>G (p.Thr861=) c.1449A>G (p.Thr483=) c.2496A>G (p.Thr832=) | |
5 | g.132892218T>G | CA446498851 | AFF4 | c.2583A>C (p.Thr861=) c.1449A>C (p.Thr483=) c.2496A>C (p.Thr832=) | |
5 | g.132892219G>A | CA360928561 | AFF4 | c.2582C>T (p.Thr861Ile) c.1448C>T (p.Thr483Ile) c.2495C>T (p.Thr832Ile) | |
5 | g.132892219G>C | CA360928564 | AFF4 | c.2582C>G (p.Thr861Arg) c.1448C>G (p.Thr483Arg) c.2495C>G (p.Thr832Arg) | |
5 | g.132892219G>T | CA360928566 | AFF4 | c.2582C>A (p.Thr861Lys) c.1448C>A (p.Thr483Lys) c.2495C>A (p.Thr832Lys) | |
5 | g.132892220T>A | CA360928570 | AFF4 | c.2581A>T (p.Thr861Ser) c.1447A>T (p.Thr483Ser) c.2494A>T (p.Thr832Ser) | |
5 | g.132892220T>C | CA360928572 | AFF4 | c.2581A>G (p.Thr861Ala) c.1447A>G (p.Thr483Ala) c.2494A>G (p.Thr832Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132892220T>G | CA360928575 | AFF4 | c.2581A>C (p.Thr861Pro) c.1447A>C (p.Thr483Pro) c.2494A>C (p.Thr832Pro) | |
5 | g.132892220T= | CA1583372471 | AFF4 | c.2581A= (p.Thr861=) c.1447A= (p.Thr483=) c.2494A= (p.Thr832=) | |
5 | g.132892221G>A | CA446498852 | AFF4 | c.2580C>T (p.Ser860=) c.1446C>T (p.Ser482=) c.2493C>T (p.Ser831=) | |
5 | g.132892221G>C | CA446498853 | AFF4 | c.2580C>G (p.Ser860=) c.1446C>G (p.Ser482=) c.2493C>G (p.Ser831=) | |
5 | g.132892221G>T | CA446498854 | AFF4 | c.2580C>A (p.Ser860=) c.1446C>A (p.Ser482=) c.2493C>A (p.Ser831=) | |
5 | g.132892222G>A | CA360928581 | AFF4 | c.2579C>T (p.Ser860Phe) c.1445C>T (p.Ser482Phe) c.2492C>T (p.Ser831Phe) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132892222G>C | CA360928582 | AFF4 | c.2579C>G (p.Ser860Cys) c.1445C>G (p.Ser482Cys) c.2492C>G (p.Ser831Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132892222G= | CA1583372472 | AFF4 | c.2579C= (p.Ser860=) c.1445C= (p.Ser482=) c.2492C= (p.Ser831=) | |
5 | g.132892222G>T | CA360928579 | AFF4 | c.2579C>A (p.Ser860Tyr) c.1445C>A (p.Ser482Tyr) c.2492C>A (p.Ser831Tyr) | |
5 | g.132892223A= | CA1583372473 | AFF4 | c.2578T= (p.Ser860=) c.1444T= (p.Ser482=) c.2491T= (p.Ser831=) | |
5 | g.132892223A>C | CA3408897 | AFF4 | c.2578T>G (p.Ser860Ala) c.1444T>G (p.Ser482Ala) c.2491T>G (p.Ser831Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132892223A>G | CA360928585 | AFF4 | c.2578T>C (p.Ser860Pro) c.1444T>C (p.Ser482Pro) c.2491T>C (p.Ser831Pro) | |
5 | g.132892223A>T | CA360928589 | AFF4 | c.2578T>A (p.Ser860Thr) c.1444T>A (p.Ser482Thr) c.2491T>A (p.Ser831Thr) | |
5 | g.132892224G>A | CA3408898 | AFF4 | c.2577C>T (p.Ser859=) c.1443C>T (p.Ser481=) c.2490C>T (p.Ser830=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132892224G>C | CA446498855 | AFF4 | c.2577C>G (p.Ser859=) c.1443C>G (p.Ser481=) c.2490C>G (p.Ser830=) | |
5 | g.132892224G= | CA1583372474 | AFF4 | c.2577C= (p.Ser859=) c.1443C= (p.Ser481=) c.2490C= (p.Ser830=) | |
5 | g.132892224G>T | CA446498856 | AFF4 | c.2577C>A (p.Ser859=) c.1443C>A (p.Ser481=) c.2490C>A (p.Ser830=) | gnomAD v4 |