Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.2251770G>A | CA304214245 | AMH | c.1496G>A (p.Arg499His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251770G>C | CA403243287 | AMH | c.1496G>C (p.Arg499Pro) | |
19 | g.2251770G= | CA2318204536 | AMH | c.1496G= (p.Arg499=) | |
19 | g.2251770G>T | CA403243288 | AMH | c.1496G>T (p.Arg499Leu) | |
19 | g.2251771C>A | CA505143854 | AMH | c.1497C>A (p.Arg499=) | |
19 | g.2251771C>G | CA505143855 | AMH | c.1497C>G (p.Arg499=) | |
19 | g.2251771C>T | CA505143856 | AMH | c.1497C>T (p.Arg499=) | |
19 | g.2251772A>C | CA403243290 | AMH | c.1498A>C (p.Asn500His) | |
19 | g.2251772A>G | CA403243291 | AMH | c.1498A>G (p.Asn500Asp) | |
19 | g.2251772A>T | CA403243293 | AMH | c.1498A>T (p.Asn500Tyr) | |
19 | g.2251773A= | CA2318204537 | AMH | c.1499A= (p.Asn500=) | |
19 | g.2251773A>C | CA403243294 | AMH | c.1499A>C (p.Asn500Thr) | |
19 | g.2251773A>G | CA9063089 | AMH | c.1499A>G (p.Asn500Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251773A>T | CA403243296 | AMH | c.1499A>T (p.Asn500Ile) | |
19 | g.2251774C>A | CA403243299 | AMH | c.1500C>A (p.Asn500Lys) | |
19 | g.2251774C= | CA2318204538 | AMH | c.1500C= (p.Asn500=) | |
19 | g.2251774C>G | CA403243300 | AMH | c.1500C>G (p.Asn500Lys) | |
19 | g.2251774C>T | CA9063090 | AMH | c.1500C>T (p.Asn500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251775C>A | CA403243302 | AMH | c.1501C>A (p.Pro501Thr) | |
19 | g.2251775C= | CA2318204539 | AMH | c.1501C= (p.Pro501=) | |
19 | g.2251775C>G | CA403243303 | AMH | c.1501C>G (p.Pro501Ala) | |
19 | g.2251775C>T | CA403243305 | AMH | c.1501C>T (p.Pro501Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251776C>A | CA403243306 | AMH | c.1502C>A (p.Pro501Gln) | gnomAD v4 |
19 | g.2251776C= | CA2318204540 | AMH | c.1502C= (p.Pro501=) | |
19 | g.2251776C>G | CA403243308 | AMH | c.1502C>G (p.Pro501Arg) | dbSNP gnomAD v4 |
19 | g.2251776C>T | CA403243310 | AMH | c.1502C>T (p.Pro501Leu) | |
19 | g.2251777G>A | CA505143875 | AMH | c.1503G>A (p.Pro501=) | dbSNP gnomAD v4 |
19 | g.2251777G>C | CA505143874 | AMH | c.1503G>C (p.Pro501=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251777G= | CA2318204541 | AMH | c.1503G= (p.Pro501=) | |
19 | g.2251777G>T | CA505143873 | AMH | c.1503G>T (p.Pro501=) | gnomAD v4 |
19 | g.2251778C>A | CA403243311 | AMH | c.1504C>A (p.Arg502Ser) | |
19 | g.2251778C= | CA2318204542 | AMH | c.1504C= (p.Arg502=) | |
19 | g.2251778C>G | CA403243313 | AMH | c.1504C>G (p.Arg502Gly) | |
19 | g.2251778C>T | CA9063091 | AMH | c.1504C>T (p.Arg502Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251779G>A | CA403243315 | AMH | c.1505G>A (p.Arg502His) | gnomAD v4 |
19 | g.2251779G>C | CA403243318 | AMH | c.1505G>C (p.Arg502Pro) | |
19 | g.2251779G= | CA2318204543 | AMH | c.1505G= (p.Arg502=) | |
19 | g.2251779G>T | CA9063092 | AMH | c.1505G>T (p.Arg502Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251780C>A | CA304214257 | AMH | c.1506C>A (p.Arg502=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251780C= | CA2318204544 | AMH | c.1506C= (p.Arg502=) | |
19 | g.2251780C>G | CA505143891 | AMH | c.1506C>G (p.Arg502=) | |
19 | g.2251780C>T | CA505143889 | AMH | c.1506C>T (p.Arg502=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251781T>A | CA403243319 | AMH | c.1507T>A (p.Tyr503Asn) | |
19 | g.2251781T>C | CA403243322 | AMH | c.1507T>C (p.Tyr503His) | gnomAD v4 |
19 | g.2251781T>G | CA403243320 | AMH | c.1507T>G (p.Tyr503Asp) | |
19 | g.2251782A>C | CA403243324 | AMH | c.1508A>C (p.Tyr503Ser) | |
19 | g.2251782A>G | CA403243327 | AMH | c.1508A>G (p.Tyr503Cys) | gnomAD v4 |
19 | g.2251782A>T | CA403243326 | AMH | c.1508A>T (p.Tyr503Phe) | |
19 | g.2251783C>A | CA403243329 | AMH | c.1509C>A (p.Tyr503Ter) | |
19 | g.2251783C= | CA2318204545 | AMH | c.1509C= (p.Tyr503=) | |
19 | g.2251783C>G | CA403243331 | AMH | c.1509C>G (p.Tyr503Ter) | |
19 | g.2251783C>T | CA505143902 | AMH | c.1509C>T (p.Tyr503=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251784G>A | CA403243332 | AMH | c.1510G>A (p.Gly504Ser) | |
19 | g.2251784G>C | CA403243334 | AMH | c.1510G>C (p.Gly504Arg) | gnomAD v4 |
19 | g.2251784G>T | CA403243335 | AMH | c.1510G>T (p.Gly504Cys) | gnomAD v4 |
19 | g.2251785G>A | CA403243337 | AMH | c.1511G>A (p.Gly504Asp) | gnomAD v4 |
19 | g.2251785G>C | CA403243339 | AMH | c.1511G>C (p.Gly504Ala) | dbSNP gnomAD v4 |
19 | g.2251785G= | CA2318204546 | AMH | c.1511G= (p.Gly504=) | |
19 | g.2251785G>T | CA403243340 | AMH | c.1511G>T (p.Gly504Val) | gnomAD v4 |
19 | g.2251786C>A | CA9063094 | AMH | c.1512C>A (p.Gly504=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251786C= | CA2318204547 | AMH | c.1512C= (p.Gly504=) | |
19 | g.2251786C>G | CA9063093 | AMH | c.1512C>G (p.Gly504=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251786C>T | CA505143909 | AMH | c.1512C>T (p.Gly504=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251787A= | CA2318204548 | AMH | c.1513A= (p.Asn505=) | |
19 | g.2251787A>C | CA403243346 | AMH | c.1513A>C (p.Asn505His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251787A>G | CA9063095 | AMH | c.1513A>G (p.Asn505Asp) | dbSNP ExAC gnomAD v2 |
19 | g.2251787A>T | CA403243343 | AMH | c.1513A>T (p.Asn505Tyr) | |
19 | g.2251788A>C | CA403243348 | AMH | c.1514A>C (p.Asn505Thr) | |
19 | g.2251788A>G | CA403243350 | AMH | c.1514A>G (p.Asn505Ser) | |
19 | g.2251788A>T | CA403243351 | AMH | c.1514A>T (p.Asn505Ile) | |
19 | g.2251789C>A | CA403243353 | AMH | c.1515C>A (p.Asn505Lys) | |
19 | g.2251789C= | CA2318204549 | AMH | c.1515C= (p.Asn505=) | |
19 | g.2251789C>G | CA403243354 | AMH | c.1515C>G (p.Asn505Lys) | |
19 | g.2251789C>T | CA9063096 | AMH | c.1515C>T (p.Asn505=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251790C>A | CA403243356 | AMH | c.1516C>A (p.His506Asn) | gnomAD v4 |
19 | g.2251790C>G | CA403243358 | AMH | c.1516C>G (p.His506Asp) | |
19 | g.2251790C>T | CA403243359 | AMH | c.1516C>T (p.His506Tyr) | gnomAD v4 |
19 | g.2251791A= | CA2318204550 | AMH | c.1517A= (p.His506=) | |
19 | g.2251791A>C | CA403243360 | AMH | c.1517A>C (p.His506Pro) | |
19 | g.2251791A>G | CA403243362 | AMH | c.1517A>G (p.His506Arg) | |
19 | g.2251791A>T | CA403243364 | AMH | c.1517A>T (p.His506Leu) | dbSNP |
19 | g.2251792C>A | CA403243366 | AMH | c.1518C>A (p.His506Gln) | |
19 | g.2251792C= | CA2318204551 | AMH | c.1518C= (p.His506=) | |
19 | g.2251792C>G | CA9063097 | AMH | c.1518C>G (p.His506Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251792C>T | CA505143924 | AMH | c.1518C>T (p.His506=) | |
19 | g.2251793G>A | CA403243368 | AMH | c.1519G>A (p.Val507Met) | gnomAD v4 |
19 | g.2251793G>C | CA403243370 | AMH | c.1519G>C (p.Val507Leu) | |
19 | g.2251793G>T | CA403243371 | AMH | c.1519G>T (p.Val507Leu) | gnomAD v4 |
19 | g.2251796_2251798dup | CA2695227991 | AMH | c.1522_1524dup (p.Val508_Leu509insVal) | |
19 | g.2251794T>A | CA403243372 | AMH | c.1520T>A (p.Val507Glu) | |
19 | g.2251794T>C | CA9063098 | AMH | c.1520T>C (p.Val507Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.2251794T>G | CA403243374 | AMH | c.1520T>G (p.Val507Gly) | |
19 | g.2251794T= | CA2318204552 | AMH | c.1520T= (p.Val507=) | |
19 | g.2251795G>A | CA505143935 | AMH | c.1521G>A (p.Val507=) | |
19 | g.2251795G>C | CA505143938 | AMH | c.1521G>C (p.Val507=) | |
19 | g.2251795G>T | CA505143940 | AMH | c.1521G>T (p.Val507=) | gnomAD v4 |
19 | g.2251796G>A | CA403243377 | AMH | c.1522G>A (p.Val508Met) | |
19 | g.2251796G>C | CA9063099 | AMH | c.1522G>C (p.Val508Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251796G= | CA2318204553 | AMH | c.1522G= (p.Val508=) | |
19 | g.2251796G>T | CA403243376 | AMH | c.1522G>T (p.Val508Leu) | gnomAD v4 |
19 | g.2251797T>A | CA403243378 | AMH | c.1523T>A (p.Val508Glu) | gnomAD v4 |
19 | g.2251797T>C | CA9063100 | AMH | c.1523T>C (p.Val508Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251797T>G | CA403243380 | AMH | c.1523T>G (p.Val508Gly) | |
19 | g.2251797T= | CA2318204554 | AMH | c.1523T= (p.Val508=) | |
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 |