Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.2251704T>ACA403243092AMHc.1430T>A (p.Val477Glu)
19g.2251704T>CCA403243093AMHc.1430T>C (p.Val477Ala)
dbSNP gnomAD v2
19g.2251704T>GCA403243094AMHc.1430T>G (p.Val477Gly)
19g.2251704T=CA2318204502AMHc.1430T= (p.Val477=)
19g.2251705A>CCA505143604AMHc.1431A>C (p.Val477=)
19g.2251705A>GCA505143605AMHc.1431A>G (p.Val477=)
19g.2251705A>TCA505143606AMHc.1431A>T (p.Val477=)
19g.2251706C>ACA403243095AMHc.1432C>A (p.Leu478Ile)
19g.2251706C>GCA403243096AMHc.1432C>G (p.Leu478Val)
gnomAD v4
19g.2251706C>TCA403243097AMHc.1432C>T (p.Leu478Phe)
gnomAD v4
19g.2251707T>ACA403243098AMHc.1433T>A (p.Leu478His)
19g.2251707T>CCA403243099AMHc.1433T>C (p.Leu478Pro)
gnomAD v4
19g.2251707T>GCA403243100AMHc.1433T>G (p.Leu478Arg)
19g.2251708C>ACA505143613AMHc.1434C>A (p.Leu478=)
19g.2251708C=CA2318204503AMHc.1434C= (p.Leu478=)
19g.2251708C>GCA505143614AMHc.1434C>G (p.Leu478=)
19g.2251708C>TCA9063079AMHc.1434C>T (p.Leu478=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251709A>CCA403243103AMHc.1435A>C (p.Ile479Leu)
19g.2251709A>GCA403243101AMHc.1435A>G (p.Ile479Val)
gnomAD v4
19g.2251709A>TCA403243102AMHc.1435A>T (p.Ile479Phe)
19g.2251710T>ACA403243104AMHc.1436T>A (p.Ile479Asn)
19g.2251710T>CCA403243105AMHc.1436T>C (p.Ile479Thr)
19g.2251710T>GCA403243106AMHc.1436T>G (p.Ile479Ser)
19g.2251711C>ACA505143621AMHc.1437C>A (p.Ile479=)
19g.2251711C>GCA403243107AMHc.1437C>G (p.Ile479Met)
19g.2251711C>TCA505143624AMHc.1437C>T (p.Ile479=)
19g.2251712C>ACA403243108AMHc.1438C>A (p.Pro480Thr)
19g.2251712C>GCA403243109AMHc.1438C>G (p.Pro480Ala)
19g.2251712C>TCA403243110AMHc.1438C>T (p.Pro480Ser)
gnomAD v4
19g.2251713C>ACA403243111AMHc.1439C>A (p.Pro480His)
19g.2251713C=CA2318204504AMHc.1439C= (p.Pro480=)
19g.2251713C>GCA403243112AMHc.1439C>G (p.Pro480Arg)
gnomAD v4
19g.2251713C>TCA403243113AMHc.1439C>T (p.Pro480Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251714C>ACA505143640AMHc.1440C>A (p.Pro480=)
19g.2251714C=CA2318204505AMHc.1440C= (p.Pro480=)
19g.2251714C>GCA9063080AMHc.1440C>G (p.Pro480=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.2251714C>TCA505143642AMHc.1440C>T (p.Pro480=)
dbSNP gnomAD v4
19g.2251715G>ACA403243116AMHc.1441G>A (p.Glu481Lys)
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.2251715G>CCA403243115AMHc.1441G>C (p.Glu481Gln)
dbSNP gnomAD v3 gnomAD v4
19g.2251715G=CA2318204506AMHc.1441G= (p.Glu481=)
19g.2251715G>TCA403243114AMHc.1441G>T (p.Glu481Ter)
gnomAD v4
19g.2251716A>CCA403243117AMHc.1442A>C (p.Glu481Ala)
19g.2251716A>GCA403243118AMHc.1442A>G (p.Glu481Gly)
19g.2251716A>TCA403243119AMHc.1442A>T (p.Glu481Val)
19g.2251717G>ACA505143652AMHc.1443G>A (p.Glu481=)
dbSNP gnomAD v3 gnomAD v4
19g.2251717G>CCA403243120AMHc.1443G>C (p.Glu481Asp)
19g.2251717G=CA2318204507AMHc.1443G= (p.Glu481=)
19g.2251717G>TCA403243121AMHc.1443G>T (p.Glu481Asp)
19g.2251718A=CA2318204508AMHc.1444A= (p.Thr482=)
19g.2251718A>CCA304214199AMHc.1444A>C (p.Thr482Pro)
dbSNP gnomAD v3 gnomAD v4
19g.2251718A>GCA403243123AMHc.1444A>G (p.Thr482Ala)
19g.2251718A>TCA403243122AMHc.1444A>T (p.Thr482Ser)
19g.2251719C>ACA403243124AMHc.1445C>A (p.Thr482Asn)
19g.2251719C>GCA403243125AMHc.1445C>G (p.Thr482Ser)
19g.2251719C>TCA403243126AMHc.1445C>T (p.Thr482Ile)
19g.2251720C>ACA505143661AMHc.1446C>A (p.Thr482=)
19g.2251720C>GCA505143663AMHc.1446C>G (p.Thr482=)
19g.2251720C>TCA505143665AMHc.1446C>T (p.Thr482=)
19g.2251721T>ACA403243127AMHc.1447T>A (p.Tyr483Asn)
19g.2251721T>CCA9063081AMHc.1447T>C (p.Tyr483His)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251721T>GCA403243128AMHc.1447T>G (p.Tyr483Asp)
19g.2251721T=CA2318204509AMHc.1447T= (p.Tyr483=)
19g.2251722A>CCA403243129AMHc.1448A>C (p.Tyr483Ser)
19g.2251722A>GCA403243131AMHc.1448A>G (p.Tyr483Cys)
gnomAD v4
19g.2251722A>TCA403243130AMHc.1448A>T (p.Tyr483Phe)
19g.2251723C>ACA403243132AMHc.1449C>A (p.Tyr483Ter)
dbSNP
19g.2251723C=CA2318204510AMHc.1449C= (p.Tyr483=)
19g.2251723C>GCA403243133AMHc.1449C>G (p.Tyr483Ter)
19g.2251723C>TCA505143674AMHc.1449C>T (p.Tyr483=)
gnomAD v4
19g.2251724C>ACA403243134AMHc.1450C>A (p.Gln484Lys)
19g.2251724C=CA2318204511AMHc.1450C= (p.Gln484=)
19g.2251724C>GCA403243135AMHc.1450C>G (p.Gln484Glu)
gnomAD v4
19g.2251724C>TCA403243136AMHc.1450C>T (p.Gln484Ter)
dbSNP gnomAD v2 gnomAD v4
19g.2251725A>CCA403243137AMHc.1451A>C (p.Gln484Pro)
19g.2251725A>GCA403243138AMHc.1451A>G (p.Gln484Arg)
19g.2251725A>TCA403243139AMHc.1451A>T (p.Gln484Leu)
19g.2251725dupCA880703362AMHc.1451dup (p.Ala485GlyfsTer?)
dbSNP
19g.2251726G>ACA9063082AMHc.1452G>A (p.Gln484=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251726G>CCA403243140AMHc.1452G>C (p.Gln484His)
dbSNP gnomAD v3 gnomAD v4
19g.2251726G=CA2318204512AMHc.1452G= (p.Gln484=)
19g.2251726G>TCA403243141AMHc.1452G>T (p.Gln484His)
19g.2251727G>ACA403243143AMHc.1453G>A (p.Ala485Thr)
gnomAD v4 COSMIC
19g.2251727G>CCA403243144AMHc.1453G>C (p.Ala485Pro)
19g.2251727G>TCA403243142AMHc.1453G>T (p.Ala485Ser)
gnomAD v4
19g.2251728C>ACA403243145AMHc.1454C>A (p.Ala485Asp)
19g.2251728C=CA2318204514AMHc.1454C= (p.Ala485=)
19g.2251728C>GCA403243146AMHc.1454C>G (p.Ala485Gly)
dbSNP gnomAD v3 gnomAD v4
19g.2251728C>TCA403243147AMHc.1454C>T (p.Ala485Val)
dbSNP gnomAD v4
19g.2251728_2251731delinsCCAACA2318204513AMHc.1454_1457delinsCCAA (p.Ala485=)
19g.2251729C>ACA505143690AMHc.1455C>A (p.Ala485=)
19g.2251729C=CA2318204515AMHc.1455C= (p.Ala485=)
19g.2251729C>GCA505143691AMHc.1455C>G (p.Ala485=)
19g.2251729C>TCA505143693AMHc.1455C>T (p.Ala485=)
dbSNP gnomAD v2
19g.2251732_2251734delCA9063083AMHc.1458_1460del (p.Asn487del)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.2251730A>CCA403243148AMHc.1456A>C (p.Asn486His)
19g.2251730A>GCA403243149AMHc.1456A>G (p.Asn486Asp)
19g.2251730A>TCA403243150AMHc.1456A>T (p.Asn486Tyr)
19g.2251731A=CA2318204516AMHc.1457A= (p.Asn486=)
19g.2251731A>CCA403243153AMHc.1457A>C (p.Asn486Thr)
dbSNP gnomAD v4
19g.2251731A>GCA403243151AMHc.1457A>G (p.Asn486Ser)
19g.2251731A>TCA403243152AMHc.1457A>T (p.Asn486Ile)
19g.2251732C>ACA403243154AMHc.1458C>A (p.Asn486Lys)
19g.2251732C>GCA403243155AMHc.1458C>G (p.Asn486Lys)
19g.2251732C>TCA505143703AMHc.1458C>T (p.Asn486=)
19g.2251732_2251739delCA2583853194AMHc.1458_1465del (p.Asn486LysfsTer?)
gnomAD v4
19g.2251733A>CCA403243156AMHc.1459A>C (p.Asn487His)
19g.2251733A>GCA403243157AMHc.1459A>G (p.Asn487Asp)
19g.2251733A>TCA403243158AMHc.1459A>T (p.Asn487Tyr)
19g.2251734delCA2583853195AMHc.1460del (p.Asn487IlefsTer25)
gnomAD v4
19g.2251734A>CCA403243161AMHc.1460A>C (p.Asn487Thr)
19g.2251734A>GCA403243159AMHc.1460A>G (p.Asn487Ser)
gnomAD v4
19g.2251734A>TCA403243160AMHc.1460A>T (p.Asn487Ile)
19g.2251735T>ACA403243162AMHc.1461T>A (p.Asn487Lys)
gnomAD v4
19g.2251735T>CCA505143710AMHc.1461T>C (p.Asn487=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.2251735T>GCA403243163AMHc.1461T>G (p.Asn487Lys)
19g.2251735T=CA2318204517AMHc.1461T= (p.Asn487=)
19g.2251736T>ACA403243164AMHc.1462T>A (p.Cys488Ser)
gnomAD v4
19g.2251736T>CCA403243165AMHc.1462T>C (p.Cys488Arg)
gnomAD v4
19g.2251736T>GCA403243166AMHc.1462T>G (p.Cys488Gly)
19g.2251737G>ACA403243167AMHc.1463G>A (p.Cys488Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.2251737G>CCA403243168AMHc.1463G>C (p.Cys488Ser)
19g.2251737G=CA2318204518AMHc.1463G= (p.Cys488=)
19g.2251737G>TCA403243169AMHc.1463G>T (p.Cys488Phe)
19g.2251738C>ACA403243170AMHc.1464C>A (p.Cys488Ter)
19g.2251738C=CA2318204519AMHc.1464C= (p.Cys488=)
19g.2251738C>GCA403243171AMHc.1464C>G (p.Cys488Trp)
dbSNP gnomAD v2 gnomAD v4
19g.2251738C>TCA505143729AMHc.1464C>T (p.Cys488=)
dbSNP gnomAD v2 gnomAD v4
19g.2251739C>ACA403243172AMHc.1465C>A (p.Gln489Lys)
19g.2251739C>GCA403243173AMHc.1465C>G (p.Gln489Glu)
19g.2251739C>TCA403243174AMHc.1465C>T (p.Gln489Ter)
gnomAD v4
19g.2251740A>CCA403243179AMHc.1466A>C (p.Gln489Pro)
19g.2251740A>GCA403243176AMHc.1466A>G (p.Gln489Arg)
gnomAD v4
19g.2251740A>TCA403243178AMHc.1466A>T (p.Gln489Leu)
19g.2251741G>ACA505143750AMHc.1467G>A (p.Gln489=)
dbSNP gnomAD v2 gnomAD v4
19g.2251741G>CCA403243181AMHc.1467G>C (p.Gln489His)
dbSNP
19g.2251741G=CA2318204520AMHc.1467G= (p.Gln489=)
19g.2251741G>TCA403243182AMHc.1467G>T (p.Gln489His)
gnomAD v4
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

Number of alleles fetched