| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.2251796_2251798dup | CA2695227991 | AMH | c.1522_1524dup (p.Val508_Leu509insVal) | |
| 19 | g.2251805_2251807del | CA2583853196 | AMH | c.1531_1533del (p.Leu511del) | gnomAD v4 |
| 19 | g.2251798G>A | CA505143944 | AMH | c.1524G>A (p.Val508=) | gnomAD v4 |
| 19 | g.2251798G>C | CA505143945 | AMH | c.1524G>C (p.Val508=) | |
| 19 | g.2251798G>T | CA505143947 | AMH | c.1524G>T (p.Val508=) | gnomAD v4 |
| 19 | g.2251799C>A | CA403243382 | AMH | c.1525C>A (p.Leu509Met) | |
| 19 | g.2251799C= | CA2318204555 | AMH | c.1525C= (p.Leu509=) | |
| 19 | g.2251799C>G | CA403243384 | AMH | c.1525C>G (p.Leu509Val) | |
| 19 | g.2251799C>T | CA505143951 | AMH | c.1525C>T (p.Leu509=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251800T>A | CA403243385 | AMH | c.1526T>A (p.Leu509Gln) | |
| 19 | g.2251800T>C | CA403243387 | AMH | c.1526T>C (p.Leu509Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251800T>G | CA9063101 | AMH | c.1526T>G (p.Leu509Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251800T= | CA2318204556 | AMH | c.1526T= (p.Leu509=) | |
| 19 | g.2251801G>A | CA505143954 | AMH | c.1527G>A (p.Leu509=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251801G>C | CA505143955 | AMH | c.1527G>C (p.Leu509=) | |
| 19 | g.2251801G= | CA2318204557 | AMH | c.1527G= (p.Leu509=) | |
| 19 | g.2251801G>T | CA505143958 | AMH | c.1527G>T (p.Leu509=) | gnomAD v4 |
| 19 | g.2251802C>A | CA403243389 | AMH | c.1528C>A (p.Leu510Met) | |
| 19 | g.2251802C>G | CA403243391 | AMH | c.1528C>G (p.Leu510Val) | |
| 19 | g.2251802C>T | CA505143960 | AMH | c.1528C>T (p.Leu510=) | |
| 19 | g.2251803T>A | CA403243392 | AMH | c.1529T>A (p.Leu510Gln) | |
| 19 | g.2251803T>C | CA403243393 | AMH | c.1529T>C (p.Leu510Pro) | |
| 19 | g.2251803T>G | CA403243395 | AMH | c.1529T>G (p.Leu510Arg) | |
| 19 | g.2251804G>A | CA505143964 | AMH | c.1530G>A (p.Leu510=) | |
| 19 | g.2251804G>C | CA505143962 | AMH | c.1530G>C (p.Leu510=) | gnomAD v4 |
| 19 | g.2251804G>T | CA505143961 | AMH | c.1530G>T (p.Leu510=) | gnomAD v4 |
| 19 | g.2251805C>A | CA9063102 | AMH | c.1531C>A (p.Leu511Met) | dbSNP ExAC COSMIC |
| 19 | g.2251805C= | CA2318204558 | AMH | c.1531C= (p.Leu511=) | |
| 19 | g.2251805C>G | CA403243397 | AMH | c.1531C>G (p.Leu511Val) | |
| 19 | g.2251805C>T | CA505143966 | AMH | c.1531C>T (p.Leu511=) | |
| 19 | g.2251806T>A | CA9063103 | AMH | c.1532T>A (p.Leu511Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251806T>C | CA403243399 | AMH | c.1532T>C (p.Leu511Pro) | gnomAD v4 |
| 19 | g.2251806T>G | CA403243400 | AMH | c.1532T>G (p.Leu511Arg) | |
| 19 | g.2251806T= | CA2318204559 | AMH | c.1532T= (p.Leu511=) | |
| 19 | g.2251807G>A | CA505143971 | AMH | c.1533G>A (p.Leu511=) | gnomAD v4 |
| 19 | g.2251807G>C | CA505143972 | AMH | c.1533G>C (p.Leu511=) | |
| 19 | g.2251807G= | CA2318204560 | AMH | c.1533G= (p.Leu511=) | |
| 19 | g.2251807G>T | CA505143974 | AMH | c.1533G>T (p.Leu511=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251808A>C | CA403243404 | AMH | c.1534A>C (p.Lys512Gln) | |
| 19 | g.2251808A>G | CA403243402 | AMH | c.1534A>G (p.Lys512Glu) | |
| 19 | g.2251808A>T | CA403243401 | AMH | c.1534A>T (p.Lys512Ter) | |
| 19 | g.2251809A>C | CA403243405 | AMH | c.1535A>C (p.Lys512Thr) | |
| 19 | g.2251809A>G | CA403243409 | AMH | c.1535A>G (p.Lys512Arg) | |
| 19 | g.2251809A>T | CA403243407 | AMH | c.1535A>T (p.Lys512Met) | |
| 19 | g.2251810G>A | CA505143978 | AMH | c.1536G>A (p.Lys512=) | gnomAD v4 |
| 19 | g.2251810G>C | CA403243410 | AMH | c.1536G>C (p.Lys512Asn) | |
| 19 | g.2251810G>T | CA403243411 | AMH | c.1536G>T (p.Lys512Asn) | gnomAD v4 |
| 19 | g.2251811A= | CA2318204561 | AMH | c.1537A= (p.Met513=) | |
| 19 | g.2251811A>C | CA403243413 | AMH | c.1537A>C (p.Met513Leu) | gnomAD v4 |
| 19 | g.2251811A>G | CA403243414 | AMH | c.1537A>G (p.Met513Val) | |
| 19 | g.2251811A>T | CA403243416 | AMH | c.1537A>T (p.Met513Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251812T>A | CA403243418 | AMH | c.1538T>A (p.Met513Lys) | |
| 19 | g.2251812T>C | CA9063104 | AMH | c.1538T>C (p.Met513Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251812T>G | CA403243420 | AMH | c.1538T>G (p.Met513Arg) | |
| 19 | g.2251812T= | CA2318204562 | AMH | c.1538T= (p.Met513=) | |
| 19 | g.2251812_2251813insCCTGCGCCCCT | CA992599253 | AMH | c.1538_1539insCCTGCGCCCCT (p.Met513IlefsTer?) | gnomAD v3 gnomAD v4 |
| 19 | g.2251813G>A | CA403243422 | AMH | c.1539G>A (p.Met513Ile) | gnomAD v4 |
| 19 | g.2251813G>C | CA403243423 | AMH | c.1539G>C (p.Met513Ile) | |
| 19 | g.2251813G= | CA2318204563 | AMH | c.1539G= (p.Met513=) | |
| 19 | g.2251813G>T | CA9063105 | AMH | c.1539G>T (p.Met513Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251814C>A | CA403243428 | AMH | c.1540C>A (p.Gln514Lys) | |
| 19 | g.2251814C= | CA2318204564 | AMH | c.1540C= (p.Gln514=) | |
| 19 | g.2251814C>G | CA403243425 | AMH | c.1540C>G (p.Gln514Glu) | |
| 19 | g.2251814C>T | CA403243427 | AMH | c.1540C>T (p.Gln514Ter) | dbSNP gnomAD v4 |
| 19 | g.2251815A>C | CA403243429 | AMH | c.1541A>C (p.Gln514Pro) | |
| 19 | g.2251815A>G | CA403243431 | AMH | c.1541A>G (p.Gln514Arg) | gnomAD v4 |
| 19 | g.2251815A>T | CA403243432 | AMH | c.1541A>T (p.Gln514Leu) | |
| 19 | g.2251815_2251816insC | CA992599257 | AMH | c.1541_1542insC (p.Gln514HisfsTer?) | gnomAD v3 gnomAD v4 |
| 19 | g.2251816G>A | CA505143984 | AMH | c.1542G>A (p.Gln514=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251816G>C | CA403243433 | AMH | c.1542G>C (p.Gln514His) | dbSNP |
| 19 | g.2251816G= | CA2318204565 | AMH | c.1542G= (p.Gln514=) | |
| 19 | g.2251816G>T | CA403243435 | AMH | c.1542G>T (p.Gln514His) | gnomAD v4 |
| 19 | g.2251816_2251817insACCCCAC | CA992599260 | AMH | c.1542_1543insACCCCAC (p.Val515ThrfsTer?) c.1542_1543insACCCCAC (p.Ala515ThrfsTer?) | gnomAD v3 gnomAD v4 |
| 19 | g.2251817G>A | CA304214313 | AMH | c.1543G>A (p.Val515Ile) c.1543G>A (p.Ala515Thr) | dbSNP |
| 19 | g.2251817G>C | CA403243437 | AMH | c.1543G>C (p.Val515Leu) c.1543G>C (p.Ala515Pro) | |
| 19 | g.2251817G= | CA2318204566 | AMH | c.1543G= (p.Val515=) c.1543G= (p.Ala515=) | |
| 19 | g.2251817G>T | CA403243439 | AMH | c.1543G>T (p.Val515Phe) c.1543G>T (p.Ala515Ser) | dbSNP gnomAD v4 |
| 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=) | |
| 19 | g.2251829G>T | CA403243472 | AMH | c.1555G>T (p.Ala519Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251830C>A | CA403243473 | AMH | c.1556C>A (p.Ala519Asp) | |
| 19 | g.2251830C= | CA2318204579 | AMH | c.1556C= (p.Ala519=) | |
| 19 | g.2251830C>G | CA403243474 | AMH | c.1556C>G (p.Ala519Gly) | |
| 19 | g.2251830C>T | CA9063112 | AMH | c.1556C>T (p.Ala519Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251832del | CA2583853197 | AMH | c.1558del (p.Leu520TrpfsTer?) | gnomAD v4 |
| 19 | g.2251831C>A | CA505143015 | AMH | c.1557C>A (p.Ala519=) | gnomAD v4 |
| 19 | g.2251831C>G | CA505143013 | AMH | c.1557C>G (p.Ala519=) | |
| 19 | g.2251831C>T | CA505143014 | AMH | c.1557C>T (p.Ala519=) | |
| 19 | g.2251832C>A | CA403243475 | AMH | c.1558C>A (p.Leu520Met) | |
| 19 | g.2251832C= | CA2318204580 | AMH | c.1558C= (p.Leu520=) | |
| 19 | g.2251832C>G | CA403243476 | AMH | c.1558C>G (p.Leu520Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251832C>T | CA505143016 | AMH | c.1558C>T (p.Leu520=) | |
| 19 | g.2251833T>A | CA403243479 | AMH | c.1559T>A (p.Leu520Gln) | |
| 19 | g.2251833T>C | CA403243480 | AMH | c.1559T>C (p.Leu520Pro) | gnomAD v4 |
| 19 | g.2251833T>G | CA403243481 | AMH | c.1559T>G (p.Leu520Arg) | |
| 19 | g.2251834G>A | CA9063113 | AMH | c.1560G>A (p.Leu520=) | dbSNP ExAC gnomAD v2 |
| 19 | g.2251834G>C | CA505143017 | AMH | c.1560G>C (p.Leu520=) | |
| 19 | g.2251834G= | CA2318204581 | AMH | c.1560G= (p.Leu520=) | |
| 19 | g.2251834G>T | CA505143018 | AMH | c.1560G>T (p.Leu520=) | gnomAD v3 gnomAD v4 |
| 19 | g.2251835G>A | CA403243487 | AMH | c.1561G>A (p.Ala521Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251835G>C | CA403243485 | AMH | c.1561G>C (p.Ala521Pro) | gnomAD v4 |
| 19 | g.2251835G= | CA2318204582 | AMH | c.1561G= (p.Ala521=) | |
| 19 | g.2251835G>T | CA403243484 | AMH | c.1561G>T (p.Ala521Ser) | dbSNP |
| 19 | g.2251836C>A | CA403243488 | AMH | c.1562C>A (p.Ala521Glu) | dbSNP gnomAD v4 |
| 19 | g.2251836C= | CA2318204583 | AMH | c.1562C= (p.Ala521=) | |
| 19 | g.2251836C>G | CA403243491 | AMH | c.1562C>G (p.Ala521Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251836C>T | CA9063114 | AMH | c.1562C>T (p.Ala521Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251837G>A | CA505143019 | AMH | c.1563G>A (p.Ala521=) | dbSNP gnomAD v4 |
| 19 | g.2251837G>C | CA505143020 | AMH | c.1563G>C (p.Ala521=) | |
| 19 | g.2251837G= | CA2318204584 | AMH | c.1563G= (p.Ala521=) | |
| 19 | g.2251837G>T | CA9063115 | AMH | c.1563G>T (p.Ala521=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251837_2251838insGGGCCGCCCTGGCA | CA9063116 | AMH | c.1563_1564insGGGCCGCCCTGGCA (p.Arg522GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251838C>A | CA403243494 | AMH | c.1564C>A (p.Arg522Ser) | gnomAD v4 |
| 19 | g.2251838C>G | CA403243496 | AMH | c.1564C>G (p.Arg522Gly) | |
| 19 | g.2251838C>T | CA403243497 | AMH | c.1564C>T (p.Arg522Cys) | gnomAD v4 |
| 19 | g.2251839G>A | CA403243499 | AMH | c.1565G>A (p.Arg522His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251839G>C | CA403243501 | AMH | c.1565G>C (p.Arg522Pro) | ClinVar dbSNP gnomAD v4 |
| 19 | g.2251839G= | CA2318204585 | AMH | c.1565G= (p.Arg522=) | |
| 19 | g.2251839G>T | CA403243503 | AMH | c.1565G>T (p.Arg522Leu) | |
| 19 | g.2251839_2251840insTG | CA2741605010 | AMH | c.1565_1566insTG (p.Pro523AlafsTer?) | |
| 19 | g.2251846_2251861dup | CA2583853198 | AMH | c.1572_1587dup (p.Ala530LeufsTer?) | gnomAD v4 |
| 19 | g.2251840C>A | CA505143021 | AMH | c.1566C>A (p.Arg522=) | gnomAD v4 |
| 19 | g.2251840C= | CA2318204586 | AMH | c.1566C= (p.Arg522=) | |
| 19 | g.2251840C>G | CA505143022 | AMH | c.1566C>G (p.Arg522=) | |
| 19 | g.2251840C>T | CA9063117 | AMH | c.1566C>T (p.Arg522=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251841C>A | CA403243507 | AMH | c.1567C>A (p.Pro523Thr) | gnomAD v4 |
| 19 | g.2251841C= | CA2318204587 | AMH | c.1567C= (p.Pro523=) | |
| 19 | g.2251841C>G | CA304214353 | AMH | c.1567C>G (p.Pro523Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251841C>T | CA403243505 | AMH | c.1567C>T (p.Pro523Ser) | |
| 19 | g.2251842C>A | CA403243509 | AMH | c.1568C>A (p.Pro523Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251842C= | CA2318204588 | AMH | c.1568C= (p.Pro523=) | |
| 19 | g.2251842C>G | CA403243510 | AMH | c.1568C>G (p.Pro523Arg) | |
| 19 | g.2251842C>T | CA403243511 | AMH | c.1568C>T (p.Pro523Leu) | gnomAD v4 |
| 19 | g.2251843A>C | CA505143023 | AMH | c.1569A>C (p.Pro523=) | gnomAD v4 |
| 19 | g.2251843A>G | CA505143024 | AMH | c.1569A>G (p.Pro523=) | gnomAD v4 |
| 19 | g.2251843A>T | CA505143025 | AMH | c.1569A>T (p.Pro523=) | |
| 19 | g.2251844C>A | CA403243513 | AMH | c.1570C>A (p.Pro524Thr) | |
| 19 | g.2251844C>G | CA403243515 | AMH | c.1570C>G (p.Pro524Ala) | |
| 19 | g.2251844C>T | CA403243517 | AMH | c.1570C>T (p.Pro524Ser) | gnomAD v4 |
| 19 | g.2251845C>A | CA304214354 | AMH | c.1571C>A (p.Pro524His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251845C= | CA2318204589 | AMH | c.1571C= (p.Pro524=) | |
| 19 | g.2251845C>G | CA403243519 | AMH | c.1571C>G (p.Pro524Arg) | |
| 19 | g.2251845C>T | CA403243518 | AMH | c.1571C>T (p.Pro524Leu) | gnomAD v4 |
| 19 | g.2251846C>A | CA505143027 | AMH | c.1572C>A (p.Pro524=) | dbSNP gnomAD v4 |
| 19 | g.2251846C= | CA2318204590 | AMH | c.1572C= (p.Pro524=) | |
| 19 | g.2251846C>G | CA505143026 | AMH | c.1572C>G (p.Pro524=) | |
| 19 | g.2251846C>T | CA9063118 | AMH | c.1572C>T (p.Pro524=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251847T>A | CA403243520 | AMH | c.1573T>A (p.Cys525Ser) | |
| 19 | g.2251847T>C | CA403243522 | AMH | c.1573T>C (p.Cys525Arg) | gnomAD v4 |
| 19 | g.2251847T>G | CA403243524 | AMH | c.1573T>G (p.Cys525Gly) | |
| 19 | g.2251848G>A | CA403243526 | AMH | c.1574G>A (p.Cys525Tyr) | |
| 19 | g.2251848G>C | CA403243527 | AMH | c.1574G>C (p.Cys525Ser) | |
| 19 | g.2251848G= | CA2318204591 | AMH | c.1574G= (p.Cys525=) | |
| 19 | g.2251848G>T | CA403243528 | AMH | c.1574G>T (p.Cys525Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251849C>A | CA403243530 | AMH | c.1575C>A (p.Cys525Ter) | |
| 19 | g.2251849C>G | CA403243531 | AMH | c.1575C>G (p.Cys525Trp) | |
| 19 | g.2251849C>T | CA505143028 | AMH | c.1575C>T (p.Cys525=) | |
| 19 | g.2251850T>A | CA304214360 | AMH | c.1576T>A (p.Cys526Ser) | dbSNP gnomAD v4 |
| 19 | g.2251850T>C | CA403243533 | AMH | c.1576T>C (p.Cys526Arg) | |
| 19 | g.2251850T>G | CA403243534 | AMH | c.1576T>G (p.Cys526Gly) | |
| 19 | g.2251850T= | CA2318204592 | AMH | c.1576T= (p.Cys526=) | |
| 19 | g.2251851G>A | CA403243537 | AMH | c.1577G>A (p.Cys526Tyr) | dbSNP gnomAD v4 |
| 19 | g.2251851G>C | CA403243539 | AMH | c.1577G>C (p.Cys526Ser) | gnomAD v4 |
| 19 | g.2251851G= | CA2318204593 | AMH | c.1577G= (p.Cys526=) | |
| 19 | g.2251851G>T | CA403243538 | AMH | c.1577G>T (p.Cys526Phe) | gnomAD v4 |
| 19 | g.2251851_2251868dup | CA2583853199 | AMH | c.1577_1594dup (p.Tyr531_Ala532insGlyValProThrAlaTyr) | gnomAD v4 |
| 19 | g.2251852C>A | CA403243541 | AMH | c.1578C>A (p.Cys526Ter) | gnomAD v4 |
| 19 | g.2251852C= | CA2318204594 | AMH | c.1578C= (p.Cys526=) | |
| 19 | g.2251852C>G | CA403243543 | AMH | c.1578C>G (p.Cys526Trp) | gnomAD v4 |
| 19 | g.2251852C>T | CA9063119 | AMH | c.1578C>T (p.Cys526=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251860_2251925del | CA2813287879 | AMH | c.1586_1651del (p.Thr529_Pro550del) | |
| 19 | g.2251853G>A | CA403243545 | AMH | c.1579G>A (p.Val527Met) | dbSNP gnomAD v4 |
| 19 | g.2251853G>C | CA403243546 | AMH | c.1579G>C (p.Val527Leu) | |
| 19 | g.2251853G= | CA2318204595 | AMH | c.1579G= (p.Val527=) | |
| 19 | g.2251853G>T | CA403243547 | AMH | c.1579G>T (p.Val527Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251854T>A | CA403243549 | AMH | c.1580T>A (p.Val527Glu) | |
| 19 | g.2251854T>C | CA403243550 | AMH | c.1580T>C (p.Val527Ala) | dbSNP |
| 19 | g.2251854T>G | CA403243551 | AMH | c.1580T>G (p.Val527Gly) | |
| 19 | g.2251854T= | CA2318204596 | AMH | c.1580T= (p.Val527=) | |
| 19 | g.2251855G>A | CA505143031 | AMH | c.1581G>A (p.Val527=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251855G>C | CA505143030 | AMH | c.1581G>C (p.Val527=) | |
| 19 | g.2251855G= | CA2318204597 | AMH | c.1581G= (p.Val527=) | |
| 19 | g.2251855G>T | CA505143029 | AMH | c.1581G>T (p.Val527=) | dbSNP gnomAD v4 |
| 19 | g.2251856C>A | CA403243553 | AMH | c.1582C>A (p.Pro528Thr) | gnomAD v4 |
| 19 | g.2251856C>G | CA403243554 | AMH | c.1582C>G (p.Pro528Ala) | |
| 19 | g.2251856C>T | CA403243556 | AMH | c.1582C>T (p.Pro528Ser) | gnomAD v4 |
| 19 | g.2251857C>A | CA403243558 | AMH | c.1583C>A (p.Pro528His) | |
| 19 | g.2251857C= | CA2318204598 | AMH | c.1583C= (p.Pro528=) | |
| 19 | g.2251857C>G | CA403243559 | AMH | c.1583C>G (p.Pro528Arg) | |
| 19 | g.2251857C>T | CA9063120 | AMH | c.1583C>T (p.Pro528Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251858C>A | CA505143032 | AMH | c.1584C>A (p.Pro528=) | gnomAD v4 |
| 19 | g.2251858C= | CA2318204599 | AMH | c.1584C= (p.Pro528=) | |
| 19 | g.2251858C>G | CA505143033 | AMH | c.1584C>G (p.Pro528=) | |
| 19 | g.2251858C>T | CA304214363 | AMH | c.1584C>T (p.Pro528=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251859A= | CA2318204600 | AMH | c.1585A= (p.Thr529=) | |
| 19 | g.2251859A>C | CA403243560 | AMH | c.1585A>C (p.Thr529Pro) | |
| 19 | g.2251859A>G | CA403243561 | AMH | c.1585A>G (p.Thr529Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251859A>T | CA403243562 | AMH | c.1585A>T (p.Thr529Ser) | |
| 19 | g.2251860C>A | CA403243563 | AMH | c.1586C>A (p.Thr529Asn) | |
| 19 | g.2251860C= | CA2318204601 | AMH | c.1586C= (p.Thr529=) | |
| 19 | g.2251860C>G | CA403243565 | AMH | c.1586C>G (p.Thr529Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.2251860C>T | CA304214364 | AMH | c.1586C>T (p.Thr529Ile) | dbSNP |
| 19 | g.2251861C>A | CA9063121 | AMH | c.1587C>A (p.Thr529=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251861C= | CA2318204602 | AMH | c.1587C= (p.Thr529=) | |
| 19 | g.2251861C>G | CA505143035 | AMH | c.1587C>G (p.Thr529=) | dbSNP gnomAD v4 |
| 19 | g.2251861C>T | CA505143036 | AMH | c.1587C>T (p.Thr529=) | gnomAD v4 |
| 19 | g.2251862G>A | CA403243566 | AMH | c.1588G>A (p.Ala530Thr) | gnomAD v4 |
| 19 | g.2251862G>C | CA403243567 | AMH | c.1588G>C (p.Ala530Pro) | |
| 19 | g.2251862G>T | CA403243569 | AMH | c.1588G>T (p.Ala530Ser) | gnomAD v4 |
| 19 | g.2251863C>A | CA403243571 | AMH | c.1589C>A (p.Ala530Asp) | gnomAD v4 |
| 19 | g.2251863C= | CA2318204603 | AMH | c.1589C= (p.Ala530=) | |
| 19 | g.2251863C>G | CA403243573 | AMH | c.1589C>G (p.Ala530Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251863C>T | CA9063122 | AMH | c.1589C>T (p.Ala530Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251864C>A | CA505143037 | AMH | c.1590C>A (p.Ala530=) | gnomAD v4 |
| 19 | g.2251864C>G | CA505143038 | AMH | c.1590C>G (p.Ala530=) | |
| 19 | g.2251864C>T | CA505143039 | AMH | c.1590C>T (p.Ala530=) | |
| 19 | g.2251865T>A | CA403243578 | AMH | c.1591T>A (p.Tyr531Asn) | |
| 19 | g.2251865T>C | CA403243574 | AMH | c.1591T>C (p.Tyr531His) | |
| 19 | g.2251865T>G | CA403243576 | AMH | c.1591T>G (p.Tyr531Asp) | |
| 19 | g.2251866A>C | CA403243579 | AMH | c.1592A>C (p.Tyr531Ser) | |
| 19 | g.2251866A>G | CA403243581 | AMH | c.1592A>G (p.Tyr531Cys) | |
| 19 | g.2251866A>T | CA403243580 | AMH | c.1592A>T (p.Tyr531Phe) | |
| 19 | g.2251867C>A | CA403243582 | AMH | c.1593C>A (p.Tyr531Ter) | |
| 19 | g.2251867C= | CA2318204604 | AMH | c.1593C= (p.Tyr531=) | |
| 19 | g.2251867C>G | CA9063123 | AMH | c.1593C>G (p.Tyr531Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251867C>T | CA505143043 | AMH | c.1593C>T (p.Tyr531=) | gnomAD v4 |
| 19 | g.2251868G>A | CA403243584 | AMH | c.1594G>A (p.Ala532Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251868G>C | CA403243586 | AMH | c.1594G>C (p.Ala532Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251868G= | CA2318204605 | AMH | c.1594G= (p.Ala532=) | |
| 19 | g.2251868G>T | CA403243587 | AMH | c.1594G>T (p.Ala532Ser) | |
| 19 | g.2251869C>A | CA9063124 | AMH | c.1595C>A (p.Ala532Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251869C= | CA2318204606 | AMH | c.1595C= (p.Ala532=) | |
| 19 | g.2251869C>G | CA403243589 | AMH | c.1595C>G (p.Ala532Gly) | |
| 19 | g.2251869C>T | CA403243591 | AMH | c.1595C>T (p.Ala532Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251870G>A | CA9063125 | AMH | c.1596G>A (p.Ala532=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251870G>C | CA505143044 | AMH | c.1596G>C (p.Ala532=) | |
| 19 | g.2251870G= | CA2318204607 | AMH | c.1596G= (p.Ala532=) | |
| 19 | g.2251870G>T | CA505143045 | AMH | c.1596G>T (p.Ala532=) | gnomAD v4 |
| 19 | g.2251872del | CA2583853200 | AMH | c.1598del (p.Gly533AlafsTer?) | gnomAD v4 |
| 19 | g.2251871G>A | CA9063126 | AMH | c.1597G>A (p.Gly533Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.2251871G>C | CA403243593 | AMH | c.1597G>C (p.Gly533Arg) | |
| 19 | g.2251871G= | CA2318204608 | AMH | c.1597G= (p.Gly533=) | |
| 19 | g.2251871G>T | CA403243595 | AMH | c.1597G>T (p.Gly533Cys) | |
| 19 | g.2251872G>A | CA403243597 | AMH | c.1598G>A (p.Gly533Asp) | gnomAD v4 |
| 19 | g.2251872G>C | CA403243599 | AMH | c.1598G>C (p.Gly533Ala) | |
| 19 | g.2251872G>T | CA403243598 | AMH | c.1598G>T (p.Gly533Val) | |
| 19 | g.2251873C>A | CA505143046 | AMH | c.1599C>A (p.Gly533=) | gnomAD v4 |
| 19 | g.2251873C>G | CA505143048 | AMH | c.1599C>G (p.Gly533=) | |
| 19 | g.2251873C>T | CA505143047 | AMH | c.1599C>T (p.Gly533=) | |
| 19 | g.2251874A>C | CA403243601 | AMH | c.1600A>C (p.Lys534Gln) | |
| 19 | g.2251874A>G | CA403243603 | AMH | c.1600A>G (p.Lys534Glu) | gnomAD v4 |
| 19 | g.2251874A>T | CA403243604 | AMH | c.1600A>T (p.Lys534Ter) | |
| 19 | g.2251875A>C | CA403243605 | AMH | c.1601A>C (p.Lys534Thr) | |
| 19 | g.2251875A>G | CA403243606 | AMH | c.1601A>G (p.Lys534Arg) | |
| 19 | g.2251875A>T | CA403243607 | AMH | c.1601A>T (p.Lys534Met) | |
| 19 | g.2251876G>A | CA505143049 | AMH | c.1602G>A (p.Lys534=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251876G>C | CA403243608 | AMH | c.1602G>C (p.Lys534Asn) | |
| 19 | g.2251876G= | CA2318204609 | AMH | c.1602G= (p.Lys534=) | |
| 19 | g.2251876G>T | CA403243609 | AMH | c.1602G>T (p.Lys534Asn) | |
| 19 | g.2251877C>A | CA403243611 | AMH | c.1603C>A (p.Leu535Met) | gnomAD v4 |
| 19 | g.2251877C= | CA2318204610 | AMH | c.1603C= (p.Leu535=) | |
| 19 | g.2251877C>G | CA9063127 | AMH | c.1603C>G (p.Leu535Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251877C>T | CA505143050 | AMH | c.1603C>T (p.Leu535=) | dbSNP gnomAD v4 |
| 19 | g.2251878T>A | CA403243617 | AMH | c.1604T>A (p.Leu535Gln) | |
| 19 | g.2251878T>C | CA403243615 | AMH | c.1604T>C (p.Leu535Pro) | |
| 19 | g.2251878T>G | CA403243614 | AMH | c.1604T>G (p.Leu535Arg) | |
| 19 | g.2251879G>A | CA505143051 | AMH | c.1605G>A (p.Leu535=) | gnomAD v4 |
| 19 | g.2251879G>C | CA505143053 | AMH | c.1605G>C (p.Leu535=) | gnomAD v4 |
| 19 | g.2251879G>T | CA505143052 | AMH | c.1605G>T (p.Leu535=) | |
| 19 | g.2251880C>A | CA403243620 | AMH | c.1606C>A (p.Leu536Ile) | gnomAD v4 |
| 19 | g.2251880C= | CA2318204611 | AMH | c.1606C= (p.Leu536=) | |
| 19 | g.2251880C>G | CA403243618 | AMH | c.1606C>G (p.Leu536Val) | |
| 19 | g.2251880C>T | CA9063128 | AMH | c.1606C>T (p.Leu536Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.2251881T>A | CA403243621 | AMH | c.1607T>A (p.Leu536His) | |
| 19 | g.2251881T>C | CA403243622 | AMH | c.1607T>C (p.Leu536Pro) | |
| 19 | g.2251881T>G | CA403243623 | AMH | c.1607T>G (p.Leu536Arg) | |
| 19 | g.2251884_2251886del | CA2583853201 | AMH | c.1610_1612del (p.Ile537del) | gnomAD v4 |
| 19 | g.2251882C>A | CA505143054 | AMH | c.1608C>A (p.Leu536=) | gnomAD v4 |
| 19 | g.2251882C>G | CA505143055 | AMH | c.1608C>G (p.Leu536=) | |
| 19 | g.2251882C>T | CA505143056 | AMH | c.1608C>T (p.Leu536=) | gnomAD v4 |
| 19 | g.2251883A= | CA2318204612 | AMH | c.1609A= (p.Ile537=) | |
| 19 | g.2251883A>C | CA403243625 | AMH | c.1609A>C (p.Ile537Leu) | |
| 19 | g.2251883A>G | CA403243626 | AMH | c.1609A>G (p.Ile537Val) | dbSNP |
| 19 | g.2251883A>T | CA403243628 | AMH | c.1609A>T (p.Ile537Phe) | |
| 19 | g.2251884T>A | CA403243629 | AMH | c.1610T>A (p.Ile537Asn) | gnomAD v4 |
| 19 | g.2251884T>C | CA403243631 | AMH | c.1610T>C (p.Ile537Thr) | |
| 19 | g.2251884T>G | CA403243632 | AMH | c.1610T>G (p.Ile537Ser) | gnomAD v4 |
| 19 | g.2251885C>A | CA505143057 | AMH | c.1611C>A (p.Ile537=) | gnomAD v4 |
| 19 | g.2251885C>G | CA403243633 | AMH | c.1611C>G (p.Ile537Met) | gnomAD v4 |
| 19 | g.2251885C>T | CA505143058 | AMH | c.1611C>T (p.Ile537=) | |
| 19 | g.2251886A>C | CA403243637 | AMH | c.1612A>C (p.Ser538Arg) | |
| 19 | g.2251886A>G | CA403243636 | AMH | c.1612A>G (p.Ser538Gly) | gnomAD v4 |
| 19 | g.2251886A>T | CA403243634 | AMH | c.1612A>T (p.Ser538Cys) | |
| 19 | g.2251887G>A | CA403243639 | AMH | c.1613G>A (p.Ser538Asn) | dbSNP gnomAD v4 |
| 19 | g.2251887G>C | CA403243641 | AMH | c.1613G>C (p.Ser538Thr) | |
| 19 | g.2251887G= | CA2318204613 | AMH | c.1613G= (p.Ser538=) | |
| 19 | g.2251887G>T | CA403243642 | AMH | c.1613G>T (p.Ser538Ile) | gnomAD v4 |
| 19 | g.2251888C>A | CA403243643 | AMH | c.1614C>A (p.Ser538Arg) | gnomAD v4 |
| 19 | g.2251888C>G | CA403243644 | AMH | c.1614C>G (p.Ser538Arg) | |
| 19 | g.2251888C>T | CA505143059 | AMH | c.1614C>T (p.Ser538=) | gnomAD v4 |
| 19 | g.2251889C>A | CA403243646 | AMH | c.1615C>A (p.Leu539Met) | gnomAD v4 |
| 19 | g.2251889C= | CA2318204614 | AMH | c.1615C= (p.Leu539=) | |
| 19 | g.2251889C>G | CA403243648 | AMH | c.1615C>G (p.Leu539Val) | dbSNP gnomAD v4 |
| 19 | g.2251889C>T | CA505143060 | AMH | c.1615C>T (p.Leu539=) | gnomAD v4 |
| 19 | g.2251890T>A | CA403243650 | AMH | c.1616T>A (p.Leu539Gln) | |
| 19 | g.2251890T>C | CA403243651 | AMH | c.1616T>C (p.Leu539Pro) | |
| 19 | g.2251890T>G | CA403243653 | AMH | c.1616T>G (p.Leu539Arg) | |
| 19 | g.2251891G>A | CA505143061 | AMH | c.1617G>A (p.Leu539=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251891G>C | CA505143062 | AMH | c.1617G>C (p.Leu539=) | dbSNP |
| 19 | g.2251891G= | CA2318204615 | AMH | c.1617G= (p.Leu539=) | |
| 19 | g.2251891G>T | CA505143063 | AMH | c.1617G>T (p.Leu539=) | gnomAD v4 |
| 19 | g.2251891_2251892insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | CA2813287882 | AMH | c.1617_1618insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC (p.Ser540AlafsTer?) | |
| 19 | g.2251892T>A | CA403243655 | AMH | c.1618T>A (p.Ser540Thr) | |
| 19 | g.2251892T>C | CA403243657 | AMH | c.1618T>C (p.Ser540Pro) | dbSNP |
| 19 | g.2251892T>G | CA403243658 | AMH | c.1618T>G (p.Ser540Ala) | |
| 19 | g.2251892T= | CA2318204616 | AMH | c.1618T= (p.Ser540=) | |
| 19 | g.2251893C>A | CA403243662 | AMH | c.1619C>A (p.Ser540Ter) | gnomAD v4 |
| 19 | g.2251893C= | CA2318204617 | AMH | c.1619C= (p.Ser540=) | |
| 19 | g.2251893C>G | CA304214408 | AMH | c.1619C>G (p.Ser540Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.2251893C>T | CA403243660 | AMH | c.1619C>T (p.Ser540Leu) | |
| 19 | g.2251894G>A | CA9063129 | AMH | c.1620G>A (p.Ser540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251894G>C | CA9063130 | AMH | c.1620G>C (p.Ser540=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.2251894G= | CA2318204618 | AMH | c.1620G= (p.Ser540=) | |
| 19 | g.2251894G>T | CA505143064 | AMH | c.1620G>T (p.Ser540=) | gnomAD v4 |
| 19 | g.2251895G>A | CA403243666 | AMH | c.1621G>A (p.Glu541Lys) | gnomAD v4 |
| 19 | g.2251895G>C | CA403243668 | AMH | c.1621G>C (p.Glu541Gln) | gnomAD v4 |
| 19 | g.2251895G>T | CA403243667 | AMH | c.1621G>T (p.Glu541Ter) | gnomAD v4 |
| 19 | g.2251896A>C | CA403243669 | AMH | c.1622A>C (p.Glu541Ala) | |
| 19 | g.2251896A>G | CA403243670 | AMH | c.1622A>G (p.Glu541Gly) | |
| 19 | g.2251896A>T | CA403243671 | AMH | c.1622A>T (p.Glu541Val) | gnomAD v4 |
| 19 | g.2251897G>A | CA505143065 | AMH | c.1623G>A (p.Glu541=) | gnomAD v4 |
| 19 | g.2251897G>C | CA9063131 | AMH | c.1623G>C (p.Glu541Asp) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.2251897G= | CA2318204619 | AMH | c.1623G= (p.Glu541=) | |
| 19 | g.2251897G>T | CA403243673 | AMH | c.1623G>T (p.Glu541Asp) | gnomAD v4 |
| 19 | g.2251898G>A | CA403243675 | AMH | c.1624G>A (p.Glu542Lys) | gnomAD v4 |
| 19 | g.2251898G>C | CA403243677 | AMH | c.1624G>C (p.Glu542Gln) | |
| 19 | g.2251898G>T | CA403243678 | AMH | c.1624G>T (p.Glu542Ter) | gnomAD v4 |
| 19 | g.2251899_2251908del | CA505143066 | AMH | c.1625_1634del (p.Glu542AlafsTer?) |