Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.2251818T>A | CA403243440 | AMH | c.1544T>A (p.Val515Asp) | dbSNP gnomAD v4 |
19 | g.2251818T>C | CA9063106 | AMH | c.1544T>C (p.Val515Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251818T>G | CA403243442 | AMH | c.1544T>G (p.Val515Gly) | |
19 | g.2251818T= | CA2318204567 | AMH | c.1544T= (p.Val515=) | |
19 | g.2251819C>A | CA505143986 | AMH | c.1545C>A (p.Val515=) c.1545C>A (p.Ala515=) | dbSNP |
19 | g.2251819C= | CA2318204568 | AMH | c.1545C= (p.Val515=) c.1545C= (p.Ala515=) | |
19 | g.2251819C>G | CA505143987 | AMH | c.1545C>G (p.Val515=) c.1545C>G (p.Ala515=) | |
19 | g.2251819C>T | CA505143988 | AMH | c.1545C>T (p.Val515=) c.1545C>T (p.Ala515=) | |
19 | g.2251819_2251820insGGCGC | CA992599266 | AMH | c.1545_1546insGGCGC (p.Arg516GlyfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.2251820C>A | CA403243446 | AMH | c.1546C>A (p.Arg516Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251820C= | CA2318204569 | AMH | c.1546C= (p.Arg516=) | |
19 | g.2251820C>G | CA403243447 | AMH | c.1546C>G (p.Arg516Gly) | gnomAD v4 |
19 | g.2251820C>T | CA403243444 | AMH | c.1546C>T (p.Arg516Cys) | dbSNP |
19 | g.2251821G>A | CA403243449 | AMH | c.1547G>A (p.Arg516His) | gnomAD v4 |
19 | g.2251821G>C | CA403243451 | AMH | c.1547G>C (p.Arg516Pro) | gnomAD v4 |
19 | g.2251821G= | CA2318204570 | AMH | c.1547G= (p.Arg516=) | |
19 | g.2251821G>T | CA9063107 | AMH | c.1547G>T (p.Arg516Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251822T>A | CA505143990 | AMH | c.1548T>A (p.Arg516=) | |
19 | g.2251822T>C | CA9063108 | AMH | c.1548T>C (p.Arg516=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251822T>G | CA505143993 | AMH | c.1548T>G (p.Arg516=) | |
19 | g.2251822T= | CA2318204571 | AMH | c.1548T= (p.Arg516=) | |
19 | g.2251823G>A | CA9063109 | AMH | c.1549G>A (p.Gly517Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251823G>C | CA403243454 | AMH | c.1549G>C (p.Gly517Arg) | |
19 | g.2251823G= | CA2318204572 | AMH | c.1549G= (p.Gly517=) | |
19 | g.2251823G>T | CA403243455 | AMH | c.1549G>T (p.Gly517Trp) | gnomAD v4 |
19 | g.2251826del | CA992599288 | AMH | c.1552del (p.Ala518ProfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.2251824G>A | CA403243457 | AMH | c.1550G>A (p.Gly517Glu) | COSMIC |
19 | g.2251824G>C | CA9063110 | AMH | c.1550G>C (p.Gly517Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251824G= | CA2318204573 | AMH | c.1550G= (p.Gly517=) | |
19 | g.2251824G>T | CA403243459 | AMH | c.1550G>T (p.Gly517Val) | gnomAD v4 |
19 | g.2251825G>A | CA505143009 | AMH | c.1551G>A (p.Gly517=) | gnomAD v4 |
19 | g.2251825G>C | CA505143007 | AMH | c.1551G>C (p.Gly517=) | |
19 | g.2251825G= | CA2318204574 | AMH | c.1551G= (p.Gly517=) | |
19 | g.2251825G>T | CA505143008 | AMH | c.1551G>T (p.Gly517=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251826G>A | CA9063111 | AMH | c.1552G>A (p.Ala518Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251826G>C | CA403243461 | AMH | c.1552G>C (p.Ala518Pro) | |
19 | g.2251826G= | CA2318204575 | AMH | c.1552G= (p.Ala518=) | |
19 | g.2251826G>T | CA403243463 | AMH | c.1552G>T (p.Ala518Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251827C>A | CA403243467 | AMH | c.1553C>A (p.Ala518Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251827C= | CA2318204576 | AMH | c.1553C= (p.Ala518=) | |
19 | g.2251827C>G | CA403243465 | AMH | c.1553C>G (p.Ala518Gly) | gnomAD v4 |
19 | g.2251827C>T | CA403243464 | AMH | c.1553C>T (p.Ala518Val) | dbSNP gnomAD v4 |
19 | g.2251828C>A | CA505143010 | AMH | c.1554C>A (p.Ala518=) | gnomAD v4 |
19 | g.2251828C= | CA2318204577 | AMH | c.1554C= (p.Ala518=) | |
19 | g.2251828C>G | CA505143011 | AMH | c.1554C>G (p.Ala518=) | dbSNP |
19 | g.2251828C>T | CA505143012 | AMH | c.1554C>T (p.Ala518=) | COSMIC |
19 | g.2251828_2251829insACG | CA992599309 | AMH | c.1554_1555insACG (p.Ala518_Ala519insThr) | gnomAD v3 gnomAD v4 |
19 | g.2251829G>A | CA403243469 | AMH | c.1555G>A (p.Ala519Thr) | gnomAD v4 |
19 | g.2251829G>C | CA403243471 | AMH | c.1555G>C (p.Ala519Pro) | |
19 | g.2251829G= | CA2318204578 | AMH | c.1555G= (p.Ala519=) |