Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.2251742G>ACA403243184AMHc.1468G>A (p.Gly490Ser)
19g.2251742G>CCA403243186AMHc.1468G>C (p.Gly490Arg)
19g.2251742G>TCA403243187AMHc.1468G>T (p.Gly490Cys)
gnomAD v4
19g.2251743G>ACA9063084AMHc.1469G>A (p.Gly490Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251743G>CCA403243190AMHc.1469G>C (p.Gly490Ala)
gnomAD v4
19g.2251743G=CA2318204521AMHc.1469G= (p.Gly490=)
19g.2251743G>TCA403243191AMHc.1469G>T (p.Gly490Val)
dbSNP gnomAD v4
19g.2251744C>ACA304214218AMHc.1470C>A (p.Gly490=)
dbSNP gnomAD v4
19g.2251744C=CA2318204522AMHc.1470C= (p.Gly490=)
19g.2251744C>GCA505143757AMHc.1470C>G (p.Gly490=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251744C>TCA505143758AMHc.1470C>T (p.Gly490=)
dbSNP gnomAD v4 COSMIC
19g.2251745G>ACA403243193AMHc.1471G>A (p.Val491Met)
gnomAD v4
19g.2251745G>CCA403243194AMHc.1471G>C (p.Val491Leu)
19g.2251745G=CA2318204523AMHc.1471G= (p.Val491=)
19g.2251745G>TCA403243197AMHc.1471G>T (p.Val491Leu)
dbSNP gnomAD v4
19g.2251746T>ACA403243198AMHc.1472T>A (p.Val491Glu)
19g.2251746T>CCA403243200AMHc.1472T>C (p.Val491Ala)
gnomAD v4
19g.2251746T>GCA403243201AMHc.1472T>G (p.Val491Gly)
19g.2251747G>ACA505143767AMHc.1473G>A (p.Val491=)
gnomAD v4
19g.2251747G>CCA505143769AMHc.1473G>C (p.Val491=)
dbSNP gnomAD v2 gnomAD v4
19g.2251747G=CA2318204524AMHc.1473G= (p.Val491=)
19g.2251747G>TCA505143770AMHc.1473G>T (p.Val491=)
19g.2251748T>ACA403243203AMHc.1474T>A (p.Cys492Ser)
gnomAD v4
19g.2251748T>CCA403243206AMHc.1474T>C (p.Cys492Arg)
19g.2251748T>GCA403243205AMHc.1474T>G (p.Cys492Gly)
19g.2251749G>ACA403243208AMHc.1475G>A (p.Cys492Tyr)
19g.2251749G>CCA403243209AMHc.1475G>C (p.Cys492Ser)
19g.2251749G>TCA403243211AMHc.1475G>T (p.Cys492Phe)
19g.2251750C>ACA403243213AMHc.1476C>A (p.Cys492Ter)
dbSNP gnomAD v2 gnomAD v4
19g.2251750C=CA2318204525AMHc.1476C= (p.Cys492=)
19g.2251750C>GCA403243214AMHc.1476C>G (p.Cys492Trp)
19g.2251750C>TCA505143780AMHc.1476C>T (p.Cys492=)
gnomAD v4
19g.2251751G>ACA403243215AMHc.1477G>A (p.Gly493Ser)
gnomAD v4 COSMIC
19g.2251751G>CCA9063085AMHc.1477G>C (p.Gly493Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251751G=CA2318204526AMHc.1477G= (p.Gly493=)
19g.2251751G>TCA403243217AMHc.1477G>T (p.Gly493Cys)
gnomAD v4
19g.2251752G>ACA403243219AMHc.1478G>A (p.Gly493Asp)
gnomAD v4
19g.2251752G>CCA403243220AMHc.1478G>C (p.Gly493Ala)
gnomAD v4
19g.2251752G=CA2318204527AMHc.1478G= (p.Gly493=)
19g.2251752G>TCA403243222AMHc.1478G>T (p.Gly493Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251753C>ACA505143788AMHc.1479C>A (p.Gly493=)
19g.2251753C>GCA505143789AMHc.1479C>G (p.Gly493=)
19g.2251753C>TCA505143790AMHc.1479C>T (p.Gly493=)
gnomAD v4
19g.2251754T>ACA403243223AMHc.1480T>A (p.Trp494Arg)
19g.2251754T>CCA403243226AMHc.1480T>C (p.Trp494Arg)
gnomAD v4
19g.2251754T>GCA403243224AMHc.1480T>G (p.Trp494Gly)
19g.2251755G>ACA9063086AMHc.1481G>A (p.Trp494Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251755G>CCA403243230AMHc.1481G>C (p.Trp494Ser)
19g.2251755G=CA2318204528AMHc.1481G= (p.Trp494=)
19g.2251755G>TCA403243228AMHc.1481G>T (p.Trp494Leu)
gnomAD v4
19g.2251756G>ACA403243231AMHc.1482G>A (p.Trp494Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251756G>CCA403243233AMHc.1482G>C (p.Trp494Cys)
19g.2251756G=CA2318204529AMHc.1482G= (p.Trp494=)
19g.2251756G>TCA403243234AMHc.1482G>T (p.Trp494Cys)
gnomAD v4
19g.2251757C>ACA403243236AMHc.1483C>A (p.Pro495Thr)
19g.2251757C>GCA403243237AMHc.1483C>G (p.Pro495Ala)
19g.2251757C>TCA403243238AMHc.1483C>T (p.Pro495Ser)
19g.2251758C>ACA403243240AMHc.1484C>A (p.Pro495His)
19g.2251758C=CA2318204530AMHc.1484C= (p.Pro495=)
19g.2251758C>GCA403243242AMHc.1484C>G (p.Pro495Arg)
19g.2251758C>TCA403243244AMHc.1484C>T (p.Pro495Leu)
dbSNP gnomAD v4
19g.2251759T>ACA505143816AMHc.1485T>A (p.Pro495=)
gnomAD v4
19g.2251759T>CCA505143817AMHc.1485T>C (p.Pro495=)
dbSNP gnomAD v4
19g.2251759T>GCA505143818AMHc.1485T>G (p.Pro495=)
19g.2251759T=CA2318204531AMHc.1485T= (p.Pro495=)
19g.2251760C>ACA403243245AMHc.1486C>A (p.Gln496Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251760C=CA2318204532AMHc.1486C= (p.Gln496=)
19g.2251760C>GCA403243246AMHc.1486C>G (p.Gln496Glu)
19g.2251760C>TCA403243248AMHc.1486C>T (p.Gln496Ter)
19g.2251761A>CCA403243250AMHc.1487A>C (p.Gln496Pro)
19g.2251761A>GCA403243253AMHc.1487A>G (p.Gln496Arg)
19g.2251761A>TCA403243252AMHc.1487A>T (p.Gln496Leu)
19g.2251762G>ACA505143832AMHc.1488G>A (p.Gln496=)
dbSNP gnomAD v2 gnomAD v4
19g.2251762G>CCA403243255AMHc.1488G>C (p.Gln496His)
19g.2251762G=CA2318204533AMHc.1488G= (p.Gln496=)
19g.2251762G>TCA403243257AMHc.1488G>T (p.Gln496His)
gnomAD v4
19g.2251763T>ACA403243258AMHc.1489T>A (p.Ser497Thr)
COSMIC
19g.2251763T>CCA403243260AMHc.1489T>C (p.Ser497Pro)
19g.2251763T>GCA403243261AMHc.1489T>G (p.Ser497Ala)
19g.2251764C>ACA403243263AMHc.1490C>A (p.Ser497Tyr)
19g.2251764C>GCA403243265AMHc.1490C>G (p.Ser497Cys)
19g.2251764C>TCA403243266AMHc.1490C>T (p.Ser497Phe)
COSMIC
19g.2251765C>ACA505143842AMHc.1491C>A (p.Ser497=)
19g.2251765C=CA2318204534AMHc.1491C= (p.Ser497=)
19g.2251765C>GCA9063088AMHc.1491C>G (p.Ser497=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251765C>TCA9063087AMHc.1491C>T (p.Ser497=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251766G>ACA403243271AMHc.1492G>A (p.Asp498Asn)
dbSNP gnomAD v4
19g.2251766G>CCA403243272AMHc.1492G>C (p.Asp498His)
dbSNP gnomAD v3 gnomAD v4
19g.2251766G=CA2318204535AMHc.1492G= (p.Asp498=)
19g.2251766G>TCA403243270AMHc.1492G>T (p.Asp498Tyr)
gnomAD v4
19g.2251767A>CCA403243273AMHc.1493A>C (p.Asp498Ala)
19g.2251767A>GCA403243274AMHc.1493A>G (p.Asp498Gly)
gnomAD v4
19g.2251767A>TCA403243276AMHc.1493A>T (p.Asp498Val)
19g.2251768C>ACA403243278AMHc.1494C>A (p.Asp498Glu)
19g.2251768C>GCA403243279AMHc.1494C>G (p.Asp498Glu)
19g.2251768C>TCA505143848AMHc.1494C>T (p.Asp498=)
gnomAD v4
19g.2251769C>ACA403243284AMHc.1495C>A (p.Arg499Ser)
gnomAD v4
19g.2251769C>GCA403243282AMHc.1495C>G (p.Arg499Gly)
gnomAD v4
19g.2251769C>TCA403243281AMHc.1495C>T (p.Arg499Cys)
gnomAD v4
19g.2251770G>ACA304214245AMHc.1496G>A (p.Arg499His)
dbSNP gnomAD v3 gnomAD v4
19g.2251770G>CCA403243287AMHc.1496G>C (p.Arg499Pro)
19g.2251770G=CA2318204536AMHc.1496G= (p.Arg499=)
19g.2251770G>TCA403243288AMHc.1496G>T (p.Arg499Leu)
19g.2251771C>ACA505143854AMHc.1497C>A (p.Arg499=)
19g.2251771C>GCA505143855AMHc.1497C>G (p.Arg499=)
19g.2251771C>TCA505143856AMHc.1497C>T (p.Arg499=)
19g.2251772A>CCA403243290AMHc.1498A>C (p.Asn500His)
19g.2251772A>GCA403243291AMHc.1498A>G (p.Asn500Asp)
19g.2251772A>TCA403243293AMHc.1498A>T (p.Asn500Tyr)
19g.2251773A=CA2318204537AMHc.1499A= (p.Asn500=)
19g.2251773A>CCA403243294AMHc.1499A>C (p.Asn500Thr)
19g.2251773A>GCA9063089AMHc.1499A>G (p.Asn500Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251773A>TCA403243296AMHc.1499A>T (p.Asn500Ile)
19g.2251774C>ACA403243299AMHc.1500C>A (p.Asn500Lys)
19g.2251774C=CA2318204538AMHc.1500C= (p.Asn500=)
19g.2251774C>GCA403243300AMHc.1500C>G (p.Asn500Lys)
19g.2251774C>TCA9063090AMHc.1500C>T (p.Asn500=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251775C>ACA403243302AMHc.1501C>A (p.Pro501Thr)
19g.2251775C=CA2318204539AMHc.1501C= (p.Pro501=)
19g.2251775C>GCA403243303AMHc.1501C>G (p.Pro501Ala)
19g.2251775C>TCA403243305AMHc.1501C>T (p.Pro501Ser)
dbSNP gnomAD v2 gnomAD v4
19g.2251776C>ACA403243306AMHc.1502C>A (p.Pro501Gln)
gnomAD v4
19g.2251776C=CA2318204540AMHc.1502C= (p.Pro501=)
19g.2251776C>GCA403243308AMHc.1502C>G (p.Pro501Arg)
dbSNP gnomAD v4
19g.2251776C>TCA403243310AMHc.1502C>T (p.Pro501Leu)
19g.2251777G>ACA505143875AMHc.1503G>A (p.Pro501=)
dbSNP gnomAD v4
19g.2251777G>CCA505143874AMHc.1503G>C (p.Pro501=)
dbSNP gnomAD v2 gnomAD v4
19g.2251777G=CA2318204541AMHc.1503G= (p.Pro501=)
19g.2251777G>TCA505143873AMHc.1503G>T (p.Pro501=)
gnomAD v4
19g.2251778C>ACA403243311AMHc.1504C>A (p.Arg502Ser)
19g.2251778C=CA2318204542AMHc.1504C= (p.Arg502=)
19g.2251778C>GCA403243313AMHc.1504C>G (p.Arg502Gly)
19g.2251778C>TCA9063091AMHc.1504C>T (p.Arg502Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251779G>ACA403243315AMHc.1505G>A (p.Arg502His)
gnomAD v4
19g.2251779G>CCA403243318AMHc.1505G>C (p.Arg502Pro)
19g.2251779G=CA2318204543AMHc.1505G= (p.Arg502=)
19g.2251779G>TCA9063092AMHc.1505G>T (p.Arg502Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251780C>ACA304214257AMHc.1506C>A (p.Arg502=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251780C=CA2318204544AMHc.1506C= (p.Arg502=)
19g.2251780C>GCA505143891AMHc.1506C>G (p.Arg502=)
19g.2251780C>TCA505143889AMHc.1506C>T (p.Arg502=)
dbSNP gnomAD v2 gnomAD v4
19g.2251781T>ACA403243319AMHc.1507T>A (p.Tyr503Asn)
19g.2251781T>CCA403243322AMHc.1507T>C (p.Tyr503His)
gnomAD v4
19g.2251781T>GCA403243320AMHc.1507T>G (p.Tyr503Asp)
19g.2251782A>CCA403243324AMHc.1508A>C (p.Tyr503Ser)
19g.2251782A>GCA403243327AMHc.1508A>G (p.Tyr503Cys)
gnomAD v4
19g.2251782A>TCA403243326AMHc.1508A>T (p.Tyr503Phe)
19g.2251783C>ACA403243329AMHc.1509C>A (p.Tyr503Ter)
19g.2251783C=CA2318204545AMHc.1509C= (p.Tyr503=)
19g.2251783C>GCA403243331AMHc.1509C>G (p.Tyr503Ter)
19g.2251783C>TCA505143902AMHc.1509C>T (p.Tyr503=)
dbSNP gnomAD v3 gnomAD v4
19g.2251784G>ACA403243332AMHc.1510G>A (p.Gly504Ser)
19g.2251784G>CCA403243334AMHc.1510G>C (p.Gly504Arg)
gnomAD v4
19g.2251784G>TCA403243335AMHc.1510G>T (p.Gly504Cys)
gnomAD v4
19g.2251785G>ACA403243337AMHc.1511G>A (p.Gly504Asp)
gnomAD v4
19g.2251785G>CCA403243339AMHc.1511G>C (p.Gly504Ala)
dbSNP gnomAD v4
19g.2251785G=CA2318204546AMHc.1511G= (p.Gly504=)
19g.2251785G>TCA403243340AMHc.1511G>T (p.Gly504Val)
gnomAD v4
19g.2251786C>ACA9063094AMHc.1512C>A (p.Gly504=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251786C=CA2318204547AMHc.1512C= (p.Gly504=)
19g.2251786C>GCA9063093AMHc.1512C>G (p.Gly504=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251786C>TCA505143909AMHc.1512C>T (p.Gly504=)
dbSNP gnomAD v2 gnomAD v4
19g.2251787A=CA2318204548AMHc.1513A= (p.Asn505=)
19g.2251787A>CCA403243346AMHc.1513A>C (p.Asn505His)
dbSNP gnomAD v2 gnomAD v4
19g.2251787A>GCA9063095AMHc.1513A>G (p.Asn505Asp)
dbSNP ExAC gnomAD v2
19g.2251787A>TCA403243343AMHc.1513A>T (p.Asn505Tyr)
19g.2251788A>CCA403243348AMHc.1514A>C (p.Asn505Thr)
19g.2251788A>GCA403243350AMHc.1514A>G (p.Asn505Ser)
19g.2251788A>TCA403243351AMHc.1514A>T (p.Asn505Ile)
19g.2251789C>ACA403243353AMHc.1515C>A (p.Asn505Lys)
19g.2251789C=CA2318204549AMHc.1515C= (p.Asn505=)
19g.2251789C>GCA403243354AMHc.1515C>G (p.Asn505Lys)
19g.2251789C>TCA9063096AMHc.1515C>T (p.Asn505=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251790C>ACA403243356AMHc.1516C>A (p.His506Asn)
gnomAD v4
19g.2251790C>GCA403243358AMHc.1516C>G (p.His506Asp)
19g.2251790C>TCA403243359AMHc.1516C>T (p.His506Tyr)
gnomAD v4
19g.2251791A=CA2318204550AMHc.1517A= (p.His506=)
19g.2251791A>CCA403243360AMHc.1517A>C (p.His506Pro)
19g.2251791A>GCA403243362AMHc.1517A>G (p.His506Arg)
19g.2251791A>TCA403243364AMHc.1517A>T (p.His506Leu)
dbSNP
19g.2251792C>ACA403243366AMHc.1518C>A (p.His506Gln)
19g.2251792C=CA2318204551AMHc.1518C= (p.His506=)
19g.2251792C>GCA9063097AMHc.1518C>G (p.His506Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251792C>TCA505143924AMHc.1518C>T (p.His506=)
19g.2251793G>ACA403243368AMHc.1519G>A (p.Val507Met)
gnomAD v4
19g.2251793G>CCA403243370AMHc.1519G>C (p.Val507Leu)
19g.2251793G>TCA403243371AMHc.1519G>T (p.Val507Leu)
gnomAD v4
19g.2251796_2251798dupCA2695227991AMHc.1522_1524dup (p.Val508_Leu509insVal)
19g.2251794T>ACA403243372AMHc.1520T>A (p.Val507Glu)
19g.2251794T>CCA9063098AMHc.1520T>C (p.Val507Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.2251794T>GCA403243374AMHc.1520T>G (p.Val507Gly)
19g.2251794T=CA2318204552AMHc.1520T= (p.Val507=)
19g.2251795G>ACA505143935AMHc.1521G>A (p.Val507=)
19g.2251795G>CCA505143938AMHc.1521G>C (p.Val507=)
19g.2251795G>TCA505143940AMHc.1521G>T (p.Val507=)
gnomAD v4
19g.2251796G>ACA403243377AMHc.1522G>A (p.Val508Met)
19g.2251796G>CCA9063099AMHc.1522G>C (p.Val508Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251796G=CA2318204553AMHc.1522G= (p.Val508=)
19g.2251796G>TCA403243376AMHc.1522G>T (p.Val508Leu)
gnomAD v4
19g.2251797T>ACA403243378AMHc.1523T>A (p.Val508Glu)
gnomAD v4
19g.2251797T>CCA9063100AMHc.1523T>C (p.Val508Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251797T>GCA403243380AMHc.1523T>G (p.Val508Gly)
19g.2251797T=CA2318204554AMHc.1523T= (p.Val508=)
19g.2251805_2251807delCA2583853196AMHc.1531_1533del (p.Leu511del)
gnomAD v4
19g.2251798G>ACA505143944AMHc.1524G>A (p.Val508=)
gnomAD v4
19g.2251798G>CCA505143945AMHc.1524G>C (p.Val508=)
19g.2251798G>TCA505143947AMHc.1524G>T (p.Val508=)
gnomAD v4
19g.2251799C>ACA403243382AMHc.1525C>A (p.Leu509Met)
19g.2251799C=CA2318204555AMHc.1525C= (p.Leu509=)
19g.2251799C>GCA403243384AMHc.1525C>G (p.Leu509Val)
19g.2251799C>TCA505143951AMHc.1525C>T (p.Leu509=)
dbSNP gnomAD v2 gnomAD v4
19g.2251800T>ACA403243385AMHc.1526T>A (p.Leu509Gln)
19g.2251800T>CCA403243387AMHc.1526T>C (p.Leu509Pro)
dbSNP gnomAD v2 gnomAD v4
19g.2251800T>GCA9063101AMHc.1526T>G (p.Leu509Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251800T=CA2318204556AMHc.1526T= (p.Leu509=)
19g.2251801G>ACA505143954AMHc.1527G>A (p.Leu509=)
dbSNP gnomAD v3 gnomAD v4
19g.2251801G>CCA505143955AMHc.1527G>C (p.Leu509=)
19g.2251801G=CA2318204557AMHc.1527G= (p.Leu509=)
19g.2251801G>TCA505143958AMHc.1527G>T (p.Leu509=)
gnomAD v4
19g.2251802C>ACA403243389AMHc.1528C>A (p.Leu510Met)
19g.2251802C>GCA403243391AMHc.1528C>G (p.Leu510Val)
19g.2251802C>TCA505143960AMHc.1528C>T (p.Leu510=)
19g.2251803T>ACA403243392AMHc.1529T>A (p.Leu510Gln)
19g.2251803T>CCA403243393AMHc.1529T>C (p.Leu510Pro)
19g.2251803T>GCA403243395AMHc.1529T>G (p.Leu510Arg)
19g.2251804G>ACA505143964AMHc.1530G>A (p.Leu510=)
19g.2251804G>CCA505143962AMHc.1530G>C (p.Leu510=)
gnomAD v4
19g.2251804G>TCA505143961AMHc.1530G>T (p.Leu510=)
gnomAD v4
19g.2251805C>ACA9063102AMHc.1531C>A (p.Leu511Met)
dbSNP ExAC COSMIC
19g.2251805C=CA2318204558AMHc.1531C= (p.Leu511=)
19g.2251805C>GCA403243397AMHc.1531C>G (p.Leu511Val)
19g.2251805C>TCA505143966AMHc.1531C>T (p.Leu511=)
19g.2251806T>ACA9063103AMHc.1532T>A (p.Leu511Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251806T>CCA403243399AMHc.1532T>C (p.Leu511Pro)
gnomAD v4
19g.2251806T>GCA403243400AMHc.1532T>G (p.Leu511Arg)
19g.2251806T=CA2318204559AMHc.1532T= (p.Leu511=)
19g.2251807G>ACA505143971AMHc.1533G>A (p.Leu511=)
gnomAD v4
19g.2251807G>CCA505143972AMHc.1533G>C (p.Leu511=)
19g.2251807G=CA2318204560AMHc.1533G= (p.Leu511=)
19g.2251807G>TCA505143974AMHc.1533G>T (p.Leu511=)
dbSNP gnomAD v2 gnomAD v4
19g.2251808A>CCA403243404AMHc.1534A>C (p.Lys512Gln)
19g.2251808A>GCA403243402AMHc.1534A>G (p.Lys512Glu)
19g.2251808A>TCA403243401AMHc.1534A>T (p.Lys512Ter)
19g.2251809A>CCA403243405AMHc.1535A>C (p.Lys512Thr)
19g.2251809A>GCA403243409AMHc.1535A>G (p.Lys512Arg)
19g.2251809A>TCA403243407AMHc.1535A>T (p.Lys512Met)
19g.2251810G>ACA505143978AMHc.1536G>A (p.Lys512=)
gnomAD v4
19g.2251810G>CCA403243410AMHc.1536G>C (p.Lys512Asn)
19g.2251810G>TCA403243411AMHc.1536G>T (p.Lys512Asn)
gnomAD v4
19g.2251811A=CA2318204561AMHc.1537A= (p.Met513=)
19g.2251811A>CCA403243413AMHc.1537A>C (p.Met513Leu)
gnomAD v4
19g.2251811A>GCA403243414AMHc.1537A>G (p.Met513Val)
19g.2251811A>TCA403243416AMHc.1537A>T (p.Met513Leu)
dbSNP gnomAD v3 gnomAD v4
19g.2251812T>ACA403243418AMHc.1538T>A (p.Met513Lys)
19g.2251812T>CCA9063104AMHc.1538T>C (p.Met513Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251812T>GCA403243420AMHc.1538T>G (p.Met513Arg)
19g.2251812T=CA2318204562AMHc.1538T= (p.Met513=)
19g.2251812_2251813insCCTGCGCCCCTCA992599253AMHc.1538_1539insCCTGCGCCCCT (p.Met513IlefsTer?)
gnomAD v3 gnomAD v4
19g.2251813G>ACA403243422AMHc.1539G>A (p.Met513Ile)
gnomAD v4
19g.2251813G>CCA403243423AMHc.1539G>C (p.Met513Ile)
19g.2251813G=CA2318204563AMHc.1539G= (p.Met513=)
19g.2251813G>TCA9063105AMHc.1539G>T (p.Met513Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251814C>ACA403243428AMHc.1540C>A (p.Gln514Lys)
19g.2251814C=CA2318204564AMHc.1540C= (p.Gln514=)
19g.2251814C>GCA403243425AMHc.1540C>G (p.Gln514Glu)
19g.2251814C>TCA403243427AMHc.1540C>T (p.Gln514Ter)
dbSNP gnomAD v4
19g.2251815A>CCA403243429AMHc.1541A>C (p.Gln514Pro)
19g.2251815A>GCA403243431AMHc.1541A>G (p.Gln514Arg)
gnomAD v4
19g.2251815A>TCA403243432AMHc.1541A>T (p.Gln514Leu)
19g.2251815_2251816insCCA992599257AMHc.1541_1542insC (p.Gln514HisfsTer?)
gnomAD v3 gnomAD v4
19g.2251816G>ACA505143984AMHc.1542G>A (p.Gln514=)
dbSNP gnomAD v2 gnomAD v4
19g.2251816G>CCA403243433AMHc.1542G>C (p.Gln514His)
dbSNP
19g.2251816G=CA2318204565AMHc.1542G= (p.Gln514=)
19g.2251816G>TCA403243435AMHc.1542G>T (p.Gln514His)
gnomAD v4
19g.2251816_2251817insACCCCACCA992599260AMHc.1542_1543insACCCCAC (p.Val515ThrfsTer?)
c.1542_1543insACCCCAC (p.Ala515ThrfsTer?)
gnomAD v3 gnomAD v4
19g.2251817G>ACA304214313AMHc.1543G>A (p.Val515Ile)
c.1543G>A (p.Ala515Thr)
dbSNP
19g.2251817G>CCA403243437AMHc.1543G>C (p.Val515Leu)
c.1543G>C (p.Ala515Pro)
19g.2251817G=CA2318204566AMHc.1543G= (p.Val515=)
c.1543G= (p.Ala515=)
19g.2251817G>TCA403243439AMHc.1543G>T (p.Val515Phe)
c.1543G>T (p.Ala515Ser)
dbSNP gnomAD v4
19g.2251818T>ACA403243440AMHc.1544T>A (p.Val515Asp)
dbSNP gnomAD v4
19g.2251818T>CCA9063106AMHc.1544T>C (p.Val515Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251818T>GCA403243442AMHc.1544T>G (p.Val515Gly)
19g.2251818T=CA2318204567AMHc.1544T= (p.Val515=)
19g.2251819C>ACA505143986AMHc.1545C>A (p.Val515=)
c.1545C>A (p.Ala515=)
dbSNP
19g.2251819C=CA2318204568AMHc.1545C= (p.Val515=)
c.1545C= (p.Ala515=)
19g.2251819C>GCA505143987AMHc.1545C>G (p.Val515=)
c.1545C>G (p.Ala515=)
19g.2251819C>TCA505143988AMHc.1545C>T (p.Val515=)
c.1545C>T (p.Ala515=)
19g.2251819_2251820insGGCGCCA992599266AMHc.1545_1546insGGCGC (p.Arg516GlyfsTer?)
gnomAD v3 gnomAD v4
19g.2251820C>ACA403243446AMHc.1546C>A (p.Arg516Ser)
dbSNP gnomAD v3 gnomAD v4
19g.2251820C=CA2318204569AMHc.1546C= (p.Arg516=)
19g.2251820C>GCA403243447AMHc.1546C>G (p.Arg516Gly)
gnomAD v4
19g.2251820C>TCA403243444AMHc.1546C>T (p.Arg516Cys)
dbSNP
19g.2251821G>ACA403243449AMHc.1547G>A (p.Arg516His)
gnomAD v4
19g.2251821G>CCA403243451AMHc.1547G>C (p.Arg516Pro)
gnomAD v4
19g.2251821G=CA2318204570AMHc.1547G= (p.Arg516=)
19g.2251821G>TCA9063107AMHc.1547G>T (p.Arg516Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251822T>ACA505143990AMHc.1548T>A (p.Arg516=)
19g.2251822T>CCA9063108AMHc.1548T>C (p.Arg516=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251822T>GCA505143993AMHc.1548T>G (p.Arg516=)
19g.2251822T=CA2318204571AMHc.1548T= (p.Arg516=)
19g.2251823G>ACA9063109AMHc.1549G>A (p.Gly517Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251823G>CCA403243454AMHc.1549G>C (p.Gly517Arg)
19g.2251823G=CA2318204572AMHc.1549G= (p.Gly517=)
19g.2251823G>TCA403243455AMHc.1549G>T (p.Gly517Trp)
gnomAD v4
19g.2251826delCA992599288AMHc.1552del (p.Ala518ProfsTer?)
gnomAD v3 gnomAD v4
19g.2251824G>ACA403243457AMHc.1550G>A (p.Gly517Glu)
COSMIC
19g.2251824G>CCA9063110AMHc.1550G>C (p.Gly517Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251824G=CA2318204573AMHc.1550G= (p.Gly517=)
19g.2251824G>TCA403243459AMHc.1550G>T (p.Gly517Val)
gnomAD v4
19g.2251825G>ACA505143009AMHc.1551G>A (p.Gly517=)
gnomAD v4
19g.2251825G>CCA505143007AMHc.1551G>C (p.Gly517=)
19g.2251825G=CA2318204574AMHc.1551G= (p.Gly517=)
19g.2251825G>TCA505143008AMHc.1551G>T (p.Gly517=)
dbSNP gnomAD v2 gnomAD v4
19g.2251826G>ACA9063111AMHc.1552G>A (p.Ala518Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251826G>CCA403243461AMHc.1552G>C (p.Ala518Pro)
19g.2251826G=CA2318204575AMHc.1552G= (p.Ala518=)
19g.2251826G>TCA403243463AMHc.1552G>T (p.Ala518Ser)
dbSNP gnomAD v2 gnomAD v4
19g.2251827C>ACA403243467AMHc.1553C>A (p.Ala518Asp)
dbSNP gnomAD v3 gnomAD v4
19g.2251827C=CA2318204576AMHc.1553C= (p.Ala518=)
19g.2251827C>GCA403243465AMHc.1553C>G (p.Ala518Gly)
gnomAD v4
19g.2251827C>TCA403243464AMHc.1553C>T (p.Ala518Val)
dbSNP gnomAD v4
19g.2251828C>ACA505143010AMHc.1554C>A (p.Ala518=)
gnomAD v4
19g.2251828C=CA2318204577AMHc.1554C= (p.Ala518=)
19g.2251828C>GCA505143011AMHc.1554C>G (p.Ala518=)
dbSNP
19g.2251828C>TCA505143012AMHc.1554C>T (p.Ala518=)
COSMIC
19g.2251828_2251829insACGCA992599309AMHc.1554_1555insACG (p.Ala518_Ala519insThr)
gnomAD v3 gnomAD v4
19g.2251829G>ACA403243469AMHc.1555G>A (p.Ala519Thr)
gnomAD v4
19g.2251829G>CCA403243471AMHc.1555G>C (p.Ala519Pro)
19g.2251829G=CA2318204578AMHc.1555G= (p.Ala519=)
19g.2251829G>TCA403243472AMHc.1555G>T (p.Ala519Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251830C>ACA403243473AMHc.1556C>A (p.Ala519Asp)
19g.2251830C=CA2318204579AMHc.1556C= (p.Ala519=)
19g.2251830C>GCA403243474AMHc.1556C>G (p.Ala519Gly)
19g.2251830C>TCA9063112AMHc.1556C>T (p.Ala519Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251832delCA2583853197AMHc.1558del (p.Leu520TrpfsTer?)
gnomAD v4
19g.2251831C>ACA505143015AMHc.1557C>A (p.Ala519=)
gnomAD v4
19g.2251831C>GCA505143013AMHc.1557C>G (p.Ala519=)
19g.2251831C>TCA505143014AMHc.1557C>T (p.Ala519=)
19g.2251832C>ACA403243475AMHc.1558C>A (p.Leu520Met)
19g.2251832C=CA2318204580AMHc.1558C= (p.Leu520=)
19g.2251832C>GCA403243476AMHc.1558C>G (p.Leu520Val)
dbSNP gnomAD v3 gnomAD v4
19g.2251832C>TCA505143016AMHc.1558C>T (p.Leu520=)
19g.2251833T>ACA403243479AMHc.1559T>A (p.Leu520Gln)
19g.2251833T>CCA403243480AMHc.1559T>C (p.Leu520Pro)
gnomAD v4
19g.2251833T>GCA403243481AMHc.1559T>G (p.Leu520Arg)
19g.2251834G>ACA9063113AMHc.1560G>A (p.Leu520=)
dbSNP ExAC gnomAD v2
19g.2251834G>CCA505143017AMHc.1560G>C (p.Leu520=)
19g.2251834G=CA2318204581AMHc.1560G= (p.Leu520=)
19g.2251834G>TCA505143018AMHc.1560G>T (p.Leu520=)
gnomAD v3 gnomAD v4
19g.2251835G>ACA403243487AMHc.1561G>A (p.Ala521Thr)
dbSNP gnomAD v2 gnomAD v4
19g.2251835G>CCA403243485AMHc.1561G>C (p.Ala521Pro)
gnomAD v4
19g.2251835G=CA2318204582AMHc.1561G= (p.Ala521=)
19g.2251835G>TCA403243484AMHc.1561G>T (p.Ala521Ser)
dbSNP
19g.2251836C>ACA403243488AMHc.1562C>A (p.Ala521Glu)
dbSNP gnomAD v4
19g.2251836C=CA2318204583AMHc.1562C= (p.Ala521=)
19g.2251836C>GCA403243491AMHc.1562C>G (p.Ala521Gly)
dbSNP gnomAD v2 gnomAD v4
19g.2251836C>TCA9063114AMHc.1562C>T (p.Ala521Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251837G>ACA505143019AMHc.1563G>A (p.Ala521=)
dbSNP gnomAD v4
19g.2251837G>CCA505143020AMHc.1563G>C (p.Ala521=)
19g.2251837G=CA2318204584AMHc.1563G= (p.Ala521=)
19g.2251837G>TCA9063115AMHc.1563G>T (p.Ala521=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251837_2251838insGGGCCGCCCTGGCACA9063116AMHc.1563_1564insGGGCCGCCCTGGCA (p.Arg522GlyfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251838C>ACA403243494AMHc.1564C>A (p.Arg522Ser)
gnomAD v4
19g.2251838C>GCA403243496AMHc.1564C>G (p.Arg522Gly)
19g.2251838C>TCA403243497AMHc.1564C>T (p.Arg522Cys)
gnomAD v4
19g.2251839G>ACA403243499AMHc.1565G>A (p.Arg522His)
dbSNP gnomAD v3 gnomAD v4
19g.2251839G>CCA403243501AMHc.1565G>C (p.Arg522Pro)
ClinVar dbSNP gnomAD v4
19g.2251839G=CA2318204585AMHc.1565G= (p.Arg522=)
19g.2251839G>TCA403243503AMHc.1565G>T (p.Arg522Leu)
19g.2251839_2251840insTGCA2741605010AMHc.1565_1566insTG (p.Pro523AlafsTer?)
19g.2251846_2251861dupCA2583853198AMHc.1572_1587dup (p.Ala530LeufsTer?)
gnomAD v4
19g.2251840C>ACA505143021AMHc.1566C>A (p.Arg522=)
gnomAD v4
19g.2251840C=CA2318204586AMHc.1566C= (p.Arg522=)
19g.2251840C>GCA505143022AMHc.1566C>G (p.Arg522=)
19g.2251840C>TCA9063117AMHc.1566C>T (p.Arg522=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251841C>ACA403243507AMHc.1567C>A (p.Pro523Thr)
gnomAD v4
19g.2251841C=CA2318204587AMHc.1567C= (p.Pro523=)
19g.2251841C>GCA304214353AMHc.1567C>G (p.Pro523Ala)
dbSNP gnomAD v2 gnomAD v4
19g.2251841C>TCA403243505AMHc.1567C>T (p.Pro523Ser)
19g.2251842C>ACA403243509AMHc.1568C>A (p.Pro523Gln)
dbSNP gnomAD v3 gnomAD v4
19g.2251842C=CA2318204588AMHc.1568C= (p.Pro523=)
19g.2251842C>GCA403243510AMHc.1568C>G (p.Pro523Arg)
19g.2251842C>TCA403243511AMHc.1568C>T (p.Pro523Leu)
gnomAD v4

Number of alleles fetched