Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.2251718A= | CA2318204508 | AMH | c.1444A= (p.Thr482=) | |
19 | g.2251718A>C | CA304214199 | AMH | c.1444A>C (p.Thr482Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251718A>G | CA403243123 | AMH | c.1444A>G (p.Thr482Ala) | |
19 | g.2251718A>T | CA403243122 | AMH | c.1444A>T (p.Thr482Ser) | |
19 | g.2251719C>A | CA403243124 | AMH | c.1445C>A (p.Thr482Asn) | |
19 | g.2251719C>G | CA403243125 | AMH | c.1445C>G (p.Thr482Ser) | |
19 | g.2251719C>T | CA403243126 | AMH | c.1445C>T (p.Thr482Ile) | |
19 | g.2251720C>A | CA505143661 | AMH | c.1446C>A (p.Thr482=) | |
19 | g.2251720C>G | CA505143663 | AMH | c.1446C>G (p.Thr482=) | |
19 | g.2251720C>T | CA505143665 | AMH | c.1446C>T (p.Thr482=) | |
19 | g.2251721T>A | CA403243127 | AMH | c.1447T>A (p.Tyr483Asn) | |
19 | g.2251721T>C | CA9063081 | AMH | c.1447T>C (p.Tyr483His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251721T>G | CA403243128 | AMH | c.1447T>G (p.Tyr483Asp) | |
19 | g.2251721T= | CA2318204509 | AMH | c.1447T= (p.Tyr483=) | |
19 | g.2251722A>C | CA403243129 | AMH | c.1448A>C (p.Tyr483Ser) | |
19 | g.2251722A>G | CA403243131 | AMH | c.1448A>G (p.Tyr483Cys) | gnomAD v4 |
19 | g.2251722A>T | CA403243130 | AMH | c.1448A>T (p.Tyr483Phe) | |
19 | g.2251723C>A | CA403243132 | AMH | c.1449C>A (p.Tyr483Ter) | dbSNP |
19 | g.2251723C= | CA2318204510 | AMH | c.1449C= (p.Tyr483=) | |
19 | g.2251723C>G | CA403243133 | AMH | c.1449C>G (p.Tyr483Ter) | |
19 | g.2251723C>T | CA505143674 | AMH | c.1449C>T (p.Tyr483=) | gnomAD v4 |
19 | g.2251724C>A | CA403243134 | AMH | c.1450C>A (p.Gln484Lys) | |
19 | g.2251724C= | CA2318204511 | AMH | c.1450C= (p.Gln484=) | |
19 | g.2251724C>G | CA403243135 | AMH | c.1450C>G (p.Gln484Glu) | gnomAD v4 |
19 | g.2251724C>T | CA403243136 | AMH | c.1450C>T (p.Gln484Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251725A>C | CA403243137 | AMH | c.1451A>C (p.Gln484Pro) | |
19 | g.2251725A>G | CA403243138 | AMH | c.1451A>G (p.Gln484Arg) | |
19 | g.2251725A>T | CA403243139 | AMH | c.1451A>T (p.Gln484Leu) | |
19 | g.2251725dup | CA880703362 | AMH | c.1451dup (p.Ala485GlyfsTer?) | dbSNP |
19 | g.2251726G>A | CA9063082 | AMH | c.1452G>A (p.Gln484=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251726G>C | CA403243140 | AMH | c.1452G>C (p.Gln484His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251726G= | CA2318204512 | AMH | c.1452G= (p.Gln484=) | |
19 | g.2251726G>T | CA403243141 | AMH | c.1452G>T (p.Gln484His) | |
19 | g.2251727G>A | CA403243143 | AMH | c.1453G>A (p.Ala485Thr) | gnomAD v4 COSMIC |
19 | g.2251727G>C | CA403243144 | AMH | c.1453G>C (p.Ala485Pro) | |
19 | g.2251727G>T | CA403243142 | AMH | c.1453G>T (p.Ala485Ser) | gnomAD v4 |
19 | g.2251728C>A | CA403243145 | AMH | c.1454C>A (p.Ala485Asp) | |
19 | g.2251728C= | CA2318204514 | AMH | c.1454C= (p.Ala485=) | |
19 | g.2251728C>G | CA403243146 | AMH | c.1454C>G (p.Ala485Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251728C>T | CA403243147 | AMH | c.1454C>T (p.Ala485Val) | dbSNP gnomAD v4 |
19 | g.2251728_2251731delinsCCAA | CA2318204513 | AMH | c.1454_1457delinsCCAA (p.Ala485=) | |
19 | g.2251729C>A | CA505143690 | AMH | c.1455C>A (p.Ala485=) | |
19 | g.2251729C= | CA2318204515 | AMH | c.1455C= (p.Ala485=) | |
19 | g.2251729C>G | CA505143691 | AMH | c.1455C>G (p.Ala485=) | |
19 | g.2251729C>T | CA505143693 | AMH | c.1455C>T (p.Ala485=) | dbSNP gnomAD v2 |
19 | g.2251732_2251734del | CA9063083 | AMH | c.1458_1460del (p.Asn487del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251730A>C | CA403243148 | AMH | c.1456A>C (p.Asn486His) | |
19 | g.2251730A>G | CA403243149 | AMH | c.1456A>G (p.Asn486Asp) | |
19 | g.2251730A>T | CA403243150 | AMH | c.1456A>T (p.Asn486Tyr) | |
19 | g.2251731A= | CA2318204516 | AMH | c.1457A= (p.Asn486=) |