Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18869133_18869192delCA2583634764CERS1,GDF1c.*800_*859del (n.*800_*859del)
c.531_590del (p.Asp177_Ala196del)
c.*1392_*1451del (n.*1392_*1451del)
gnomAD v4
19g.18869135_18869198dupCA915952973CERS1,GDF1c.*792_*855dup (n.*792_*855dup)
c.523_586dup (p.Ala196GlyfsTer?)
c.*1384_*1447dup (n.*1384_*1447dup)
ClinVar dbSNP
19g.18869177G>ACA404863006CERS1,GDF1c.*808C>T (n.*808C>T)
c.539C>T (p.Pro180Leu)
c.*1400C>T (n.*1400C>T)
gnomAD v4
19g.18869177G>CCA404863007CERS1,GDF1c.*808C>G (n.*808C>G)
c.539C>G (p.Pro180Arg)
c.*1400C>G (n.*1400C>G)
19g.18869177G>TCA404863009CERS1,GDF1c.*808C>A (n.*808C>A)
c.539C>A (p.Pro180Gln)
c.*1400C>A (n.*1400C>A)
gnomAD v4
19g.18869183_18869207delCA2583634777CERS1,GDF1c.*784_*808del (n.*784_*808del)
c.515_539del (p.Gln172ArgfsTer?)
c.*1376_*1400del (n.*1376_*1400del)
gnomAD v4
19g.18869178G>ACA404863013CERS1,GDF1c.*807C>T (n.*807C>T)
c.538C>T (p.Pro180Ser)
c.*1399C>T (n.*1399C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869178G>CCA404863012CERS1,GDF1c.*807C>G (n.*807C>G)
c.538C>G (p.Pro180Ala)
c.*1399C>G (n.*1399C>G)
gnomAD v4
19g.18869178G=CA2326567749CERS1,GDF1c.*807C= (n.*807C=)
c.538C= (p.Pro180=)
c.*1399C= (n.*1399C=)
19g.18869178G>TCA404863011CERS1,GDF1c.*807C>A (n.*807C>A)
c.538C>A (p.Pro180Thr)
c.*1399C>A (n.*1399C>A)
gnomAD v4
19g.18869179C>ACA506118598CERS1,GDF1c.*806G>T (n.*806G>T)
c.537G>T (p.Gly179=)
c.*1398G>T (n.*1398G>T)
gnomAD v4
19g.18869179C=CA2326567750CERS1,GDF1c.*806G= (n.*806G=)
c.537G= (p.Gly179=)
c.*1398G= (n.*1398G=)
19g.18869179C>GCA506118599CERS1,GDF1c.*806G>C (n.*806G>C)
c.537G>C (p.Gly179=)
c.*1398G>C (n.*1398G>C)
gnomAD v4
19g.18869179C>TCA16616257CERS1,GDF1c.*806G>A (n.*806G>A)
c.537G>A (p.Gly179=)
c.*1398G>A (n.*1398G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869181delCA2580613098CERS1,GDF1c.*806del (n.*806del)
c.537del (p.Pro180ArgfsTer?)
c.*1398del (n.*1398del)
ClinVar
19g.18869180C>ACA404863015CERS1,GDF1c.*805G>T (n.*805G>T)
c.536G>T (p.Gly179Val)
c.*1397G>T (n.*1397G>T)
gnomAD v4
19g.18869180C=CA2326567751CERS1,GDF1c.*805G= (n.*805G=)
c.536G= (p.Gly179=)
c.*1397G= (n.*1397G=)
19g.18869180C>GCA404863019CERS1,GDF1c.*805G>C (n.*805G>C)
c.536G>C (p.Gly179Ala)
c.*1397G>C (n.*1397G>C)
19g.18869180C>TCA404863017CERS1,GDF1c.*805G>A (n.*805G>A)
c.536G>A (p.Gly179Glu)
c.*1397G>A (n.*1397G>A)
dbSNP gnomAD v4
19g.18869181C>ACA404863021CERS1,GDF1c.*804G>T (n.*804G>T)
c.535G>T (p.Gly179Trp)
c.*1396G>T (n.*1396G>T)
gnomAD v4
19g.18869181C=CA2326567752CERS1,GDF1c.*804G= (n.*804G=)
c.535G= (p.Gly179=)
c.*1396G= (n.*1396G=)
19g.18869181C>GCA404863024CERS1,GDF1c.*804G>C (n.*804G>C)
c.535G>C (p.Gly179Arg)
c.*1396G>C (n.*1396G>C)
gnomAD v4
19g.18869181C>TCA404863023CERS1,GDF1c.*804G>A (n.*804G>A)
c.535G>A (p.Gly179Arg)
c.*1396G>A (n.*1396G>A)
dbSNP gnomAD v3 gnomAD v4
19g.18869182G>ACA506118604CERS1,GDF1c.*803C>T (n.*803C>T)
c.534C>T (p.Pro178=)
c.*1395C>T (n.*1395C>T)
dbSNP gnomAD v3 gnomAD v4
19g.18869182G>CCA506118606CERS1,GDF1c.*803C>G (n.*803C>G)
c.534C>G (p.Pro178=)
c.*1395C>G (n.*1395C>G)
gnomAD v4
19g.18869182G=CA2326567753CERS1,GDF1c.*803C= (n.*803C=)
c.534C= (p.Pro178=)
c.*1395C= (n.*1395C=)
19g.18869182G>TCA506118608CERS1,GDF1c.*803C>A (n.*803C>A)
c.534C>A (p.Pro178=)
c.*1395C>A (n.*1395C>A)
gnomAD v4
19g.18869185dupCA2583634778CERS1,GDF1c.*803dup (n.*803dup)
c.534dup (p.Gly179ArgfsTer?)
c.*1395dup (n.*1395dup)
gnomAD v4
19g.18869185delCA2583634779CERS1,GDF1c.*803del (n.*803del)
c.534del (p.Pro180ArgfsTer?)
c.*1395del (n.*1395del)
gnomAD v4
19g.18869183G>ACA404863025CERS1,GDF1c.*802C>T (n.*802C>T)
c.533C>T (p.Pro178Leu)
c.*1394C>T (n.*1394C>T)
gnomAD v4
19g.18869183G>CCA404863027CERS1,GDF1c.*802C>G (n.*802C>G)
c.533C>G (p.Pro178Arg)
c.*1394C>G (n.*1394C>G)
gnomAD v4
19g.18869183G>TCA404863028CERS1,GDF1c.*802C>A (n.*802C>A)
c.533C>A (p.Pro178His)
c.*1394C>A (n.*1394C>A)
gnomAD v4
19g.18869184G>ACA404863030CERS1,GDF1c.*801C>T (n.*801C>T)
c.532C>T (p.Pro178Ser)
c.*1393C>T (n.*1393C>T)
dbSNP gnomAD v3 gnomAD v4
19g.18869184G>CCA404863031CERS1,GDF1c.*801C>G (n.*801C>G)
c.532C>G (p.Pro178Ala)
c.*1393C>G (n.*1393C>G)
19g.18869184G=CA2326567754CERS1,GDF1c.*801C= (n.*801C=)
c.532C= (p.Pro178=)
c.*1393C= (n.*1393C=)
19g.18869184G>TCA404863033CERS1,GDF1c.*801C>A (n.*801C>A)
c.532C>A (p.Pro178Thr)
c.*1393C>A (n.*1393C>A)
gnomAD v4
19g.18869185G>ACA506118612CERS1,GDF1c.*800C>T (n.*800C>T)
c.531C>T (p.Asp177=)
c.*1392C>T (n.*1392C>T)
gnomAD v4
19g.18869185G>CCA404863035CERS1,GDF1c.*800C>G (n.*800C>G)
c.531C>G (p.Asp177Glu)
c.*1392C>G (n.*1392C>G)
19g.18869185G=CA2326567755CERS1,GDF1c.*800C= (n.*800C=)
c.531C= (p.Asp177=)
c.*1392C= (n.*1392C=)
19g.18869185G>TCA404863037CERS1,GDF1c.*800C>A (n.*800C>A)
c.531C>A (p.Asp177Glu)
c.*1392C>A (n.*1392C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869186T>ACA404863039CERS1,GDF1c.*799A>T (n.*799A>T)
c.530A>T (p.Asp177Val)
c.*1391A>T (n.*1391A>T)
19g.18869186T>CCA404863041CERS1,GDF1c.*799A>G (n.*799A>G)
c.530A>G (p.Asp177Gly)
c.*1391A>G (n.*1391A>G)
dbSNP gnomAD v4
19g.18869186T>GCA404863044CERS1,GDF1c.*799A>C (n.*799A>C)
c.530A>C (p.Asp177Ala)
c.*1391A>C (n.*1391A>C)
gnomAD v4
19g.18869186T=CA2326567756CERS1,GDF1c.*799A= (n.*799A=)
c.530A= (p.Asp177=)
c.*1391A= (n.*1391A=)
19g.18869187C>ACA404863046CERS1,GDF1c.*798G>T (n.*798G>T)
c.529G>T (p.Asp177Tyr)
c.*1390G>T (n.*1390G>T)
gnomAD v4
19g.18869187C>GCA404863048CERS1,GDF1c.*798G>C (n.*798G>C)
c.529G>C (p.Asp177His)
c.*1390G>C (n.*1390G>C)
19g.18869187C>TCA404863049CERS1,GDF1c.*798G>A (n.*798G>A)
c.529G>A (p.Asp177Asn)
c.*1390G>A (n.*1390G>A)
gnomAD v4
19g.18869195_18869200dupCA632627052CERS1,GDF1c.*793_*798dup (n.*793_*798dup)
c.524_529dup (p.Ala176_Asp177insGlyAla)
c.*1385_*1390dup (n.*1385_*1390dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869188C>ACA506118620CERS1,GDF1c.*797G>T (n.*797G>T)
c.528G>T (p.Ala176=)
c.*1389G>T (n.*1389G>T)
gnomAD v4
19g.18869188C>GCA506118621CERS1,GDF1c.*797G>C (n.*797G>C)
c.528G>C (p.Ala176=)
c.*1389G>C (n.*1389G>C)
19g.18869188C>TCA506118622CERS1,GDF1c.*797G>A (n.*797G>A)
c.528G>A (p.Ala176=)
c.*1389G>A (n.*1389G>A)
gnomAD v4
19g.18869189G>ACA404863055CERS1,GDF1c.*796C>T (n.*796C>T)
c.527C>T (p.Ala176Val)
c.*1388C>T (n.*1388C>T)
gnomAD v4
19g.18869189G>CCA404863054CERS1,GDF1c.*796C>G (n.*796C>G)
c.527C>G (p.Ala176Gly)
c.*1388C>G (n.*1388C>G)
dbSNP gnomAD v4
19g.18869189G>TCA404863051CERS1,GDF1c.*796C>A (n.*796C>A)
c.527C>A (p.Ala176Glu)
c.*1388C>A (n.*1388C>A)
gnomAD v4
19g.18869190C>ACA404863057CERS1,GDF1c.*795G>T (n.*795G>T)
c.526G>T (p.Ala176Ser)
c.*1387G>T (n.*1387G>T)
gnomAD v4
19g.18869190C>GCA404863059CERS1,GDF1c.*795G>C (n.*795G>C)
c.526G>C (p.Ala176Pro)
c.*1387G>C (n.*1387G>C)
19g.18869190C>TCA404863061CERS1,GDF1c.*795G>A (n.*795G>A)
c.526G>A (p.Ala176Thr)
c.*1387G>A (n.*1387G>A)
gnomAD v4
19g.18869191G>ACA506118630CERS1,GDF1c.*794C>T (n.*794C>T)
c.525C>T (p.Gly175=)
c.*1386C>T (n.*1386C>T)
gnomAD v4
19g.18869191G>CCA506118631CERS1,GDF1c.*794C>G (n.*794C>G)
c.525C>G (p.Gly175=)
c.*1386C>G (n.*1386C>G)
gnomAD v4
19g.18869191G>TCA506118632CERS1,GDF1c.*794C>A (n.*794C>A)
c.525C>A (p.Gly175=)
c.*1386C>A (n.*1386C>A)
dbSNP gnomAD v4
19g.18869192C>ACA404863062CERS1,GDF1c.*793G>T (n.*793G>T)
c.524G>T (p.Gly175Val)
c.*1385G>T (n.*1385G>T)
gnomAD v4
19g.18869192C=CA2326567757CERS1,GDF1c.*793G= (n.*793G=)
c.524G= (p.Gly175=)
c.*1385G= (n.*1385G=)
19g.18869192C>GCA404863064CERS1,GDF1c.*793G>C (n.*793G>C)
c.524G>C (p.Gly175Ala)
c.*1385G>C (n.*1385G>C)
gnomAD v4
19g.18869192C>TCA404863066CERS1,GDF1c.*793G>A (n.*793G>A)
c.524G>A (p.Gly175Asp)
c.*1385G>A (n.*1385G>A)
dbSNP gnomAD v4
19g.18869193C>ACA306231758CERS1,GDF1c.*792G>T (n.*792G>T)
c.523G>T (p.Gly175Cys)
c.*1384G>T (n.*1384G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869193C=CA2326567758CERS1,GDF1c.*792G= (n.*792G=)
c.523G= (p.Gly175=)
c.*1384G= (n.*1384G=)
19g.18869193C>GCA404863069CERS1,GDF1c.*792G>C (n.*792G>C)
c.523G>C (p.Gly175Arg)
c.*1384G>C (n.*1384G>C)
19g.18869193C>TCA404863071CERS1,GDF1c.*792G>A (n.*792G>A)
c.523G>A (p.Gly175Ser)
c.*1384G>A (n.*1384G>A)
gnomAD v4
19g.18869194C>ACA506118636CERS1,GDF1c.*791G>T (n.*791G>T)
c.522G>T (p.Ala174=)
c.*1383G>T (n.*1383G>T)
gnomAD v4
19g.18869194C=CA2326567759CERS1,GDF1c.*791G= (n.*791G=)
c.522G= (p.Ala174=)
c.*1383G= (n.*1383G=)
19g.18869194C>GCA506118635CERS1,GDF1c.*791G>C (n.*791G>C)
c.522G>C (p.Ala174=)
c.*1383G>C (n.*1383G>C)
19g.18869194C>TCA506118634CERS1,GDF1c.*791G>A (n.*791G>A)
c.522G>A (p.Ala174=)
c.*1383G>A (n.*1383G>A)
dbSNP gnomAD v3 gnomAD v4
19g.18869195delCA2583634780CERS1,GDF1c.*790del (n.*790del)
c.521del (p.Ala174GlyfsTer?)
c.*1382del (n.*1382del)
gnomAD v4
19g.18869195G>ACA404863072CERS1,GDF1c.*790C>T (n.*790C>T)
c.521C>T (p.Ala174Val)
c.*1382C>T (n.*1382C>T)
dbSNP gnomAD v4
19g.18869195G>CCA404863074CERS1,GDF1c.*790C>G (n.*790C>G)
c.521C>G (p.Ala174Gly)
c.*1382C>G (n.*1382C>G)
gnomAD v4
19g.18869195G>TCA404863076CERS1,GDF1c.*790C>A (n.*790C>A)
c.521C>A (p.Ala174Glu)
c.*1382C>A (n.*1382C>A)
19g.18869195_18869204delinsGCGCCCTGGCCA2326567760CERS1,GDF1c.*781_*790delinsGCCAGGGCGC (n.*781_*790delinsGCCAGGGCGC)
c.512_521delinsGCCAGGGCGC (p.Gly171=)
c.*1373_*1382delinsGCCAGGGCGC (n.*1373_*1382delinsGCCAGGGCGC)
19g.18869196delCA2583634781CERS1,GDF1c.*789del (n.*789del)
c.520del (p.Ala174ArgfsTer?)
c.*1381del (n.*1381del)
gnomAD v4
19g.18869196C>ACA404863078CERS1,GDF1c.*789G>T (n.*789G>T)
c.520G>T (p.Ala174Ser)
c.*1381G>T (n.*1381G>T)
gnomAD v4
19g.18869196C>GCA404863079CERS1,GDF1c.*789G>C (n.*789G>C)
c.520G>C (p.Ala174Pro)
c.*1381G>C (n.*1381G>C)
19g.18869196C>TCA404863081CERS1,GDF1c.*789G>A (n.*789G>A)
c.520G>A (p.Ala174Thr)
c.*1381G>A (n.*1381G>A)
gnomAD v4
19g.18869197_18869205delCA2326567761CERS1,GDF1c.*781_*789del (n.*781_*789del)
c.512_520del (p.Gly171_Gly173del)
c.*1373_*1381del (n.*1373_*1381del)
dbSNP
19g.18869197G>ACA506118642CERS1,GDF1c.*788C>T (n.*788C>T)
c.519C>T (p.Gly173=)
c.*1380C>T (n.*1380C>T)
gnomAD v4
19g.18869197G>CCA506118643CERS1,GDF1c.*788C>G (n.*788C>G)
c.519C>G (p.Gly173=)
c.*1380C>G (n.*1380C>G)
gnomAD v4
19g.18869197G>TCA506118644CERS1,GDF1c.*788C>A (n.*788C>A)
c.519C>A (p.Gly173=)
c.*1380C>A (n.*1380C>A)
gnomAD v4
19g.18869198_18869199insAGCCA2583634782CERS1,GDF1c.*788_*789insTGC (n.*788_*789insTGC)
c.519_520insTGC (p.Gly173_Ala174insCys)
c.*1380_*1381insTGC (n.*1380_*1381insTGC)
gnomAD v4
19g.18869198C>ACA404863085CERS1,GDF1c.*787G>T (n.*787G>T)
c.518G>T (p.Gly173Val)
c.*1379G>T (n.*1379G>T)
gnomAD v4
19g.18869198C>GCA404863086CERS1,GDF1c.*787G>C (n.*787G>C)
c.518G>C (p.Gly173Ala)
c.*1379G>C (n.*1379G>C)
19g.18869198C>TCA404863083CERS1,GDF1c.*787G>A (n.*787G>A)
c.518G>A (p.Gly173Asp)
c.*1379G>A (n.*1379G>A)
gnomAD v4
19g.18869199C>ACA404863088CERS1,GDF1c.*786G>T (n.*786G>T)
c.517G>T (p.Gly173Cys)
c.*1378G>T (n.*1378G>T)
gnomAD v4
19g.18869199C=CA2326567762CERS1,GDF1c.*786G= (n.*786G=)
c.517G= (p.Gly173=)
c.*1378G= (n.*1378G=)
19g.18869199C>GCA404863090CERS1,GDF1c.*786G>C (n.*786G>C)
c.517G>C (p.Gly173Arg)
c.*1378G>C (n.*1378G>C)
gnomAD v4
19g.18869199C>TCA404863092CERS1,GDF1c.*786G>A (n.*786G>A)
c.517G>A (p.Gly173Ser)
c.*1378G>A (n.*1378G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869200C>ACA404863094CERS1,GDF1c.*785G>T (n.*785G>T)
c.516G>T (p.Gln172His)
c.*1377G>T (n.*1377G>T)
gnomAD v4
19g.18869200C>GCA404863095CERS1,GDF1c.*785G>C (n.*785G>C)
c.516G>C (p.Gln172His)
c.*1377G>C (n.*1377G>C)
gnomAD v4
19g.18869200C>TCA506118648CERS1,GDF1c.*785G>A (n.*785G>A)
c.516G>A (p.Gln172=)
c.*1377G>A (n.*1377G>A)
gnomAD v4
19g.18869201T>ACA404863099CERS1,GDF1c.*784A>T (n.*784A>T)
c.515A>T (p.Gln172Leu)
c.*1376A>T (n.*1376A>T)
19g.18869201T>CCA404863098CERS1,GDF1c.*784A>G (n.*784A>G)
c.515A>G (p.Gln172Arg)
c.*1376A>G (n.*1376A>G)
dbSNP gnomAD v4
19g.18869201T>GCA404863096CERS1,GDF1c.*784A>C (n.*784A>C)
c.515A>C (p.Gln172Pro)
c.*1376A>C (n.*1376A>C)
gnomAD v4
19g.18869202G>ACA404863101CERS1,GDF1c.*783C>T (n.*783C>T)
c.514C>T (p.Gln172Ter)
c.*1375C>T (n.*1375C>T)
gnomAD v4
19g.18869202G>CCA404863103CERS1,GDF1c.*783C>G (n.*783C>G)
c.514C>G (p.Gln172Glu)
c.*1375C>G (n.*1375C>G)
19g.18869202G>TCA404863104CERS1,GDF1c.*783C>A (n.*783C>A)
c.514C>A (p.Gln172Lys)
c.*1375C>A (n.*1375C>A)
19g.18869203G>ACA506118660CERS1,GDF1c.*782C>T (n.*782C>T)
c.513C>T (p.Gly171=)
c.*1374C>T (n.*1374C>T)
gnomAD v4
19g.18869203G>CCA506118658CERS1,GDF1c.*782C>G (n.*782C>G)
c.513C>G (p.Gly171=)
c.*1374C>G (n.*1374C>G)
gnomAD v4
19g.18869203G>TCA506118656CERS1,GDF1c.*782C>A (n.*782C>A)
c.513C>A (p.Gly171=)
c.*1374C>A (n.*1374C>A)
gnomAD v4
19g.18869204C>ACA404863105CERS1,GDF1c.*781G>T (n.*781G>T)
c.512G>T (p.Gly171Val)
c.*1373G>T (n.*1373G>T)
gnomAD v4
19g.18869204C>GCA404863107CERS1,GDF1c.*781G>C (n.*781G>C)
c.512G>C (p.Gly171Ala)
c.*1373G>C (n.*1373G>C)
19g.18869204C>TCA404863109CERS1,GDF1c.*781G>A (n.*781G>A)
c.512G>A (p.Gly171Asp)
c.*1373G>A (n.*1373G>A)
gnomAD v4
19g.18869206delCA2583634783CERS1,GDF1c.*781del (n.*781del)
c.512del (p.Gly171AlafsTer?)
c.*1373del (n.*1373del)
gnomAD v4
19g.18869205C>ACA404863111CERS1,GDF1c.*780G>T (n.*780G>T)
c.511G>T (p.Gly171Cys)
c.*1372G>T (n.*1372G>T)
gnomAD v4
19g.18869205C=CA2326567763CERS1,GDF1c.*780G= (n.*780G=)
c.511G= (p.Gly171=)
c.*1372G= (n.*1372G=)
19g.18869205C>GCA404863114CERS1,GDF1c.*780G>C (n.*780G>C)
c.511G>C (p.Gly171Arg)
c.*1372G>C (n.*1372G>C)
dbSNP gnomAD v3 gnomAD v4
19g.18869205C>TCA404863112CERS1,GDF1c.*780G>A (n.*780G>A)
c.511G>A (p.Gly171Ser)
c.*1372G>A (n.*1372G>A)
gnomAD v4
19g.18869206C>ACA506118667CERS1,GDF1c.*779G>T (n.*779G>T)
c.510G>T (p.Ala170=)
c.*1371G>T (n.*1371G>T)
gnomAD v4
19g.18869206C>GCA506118669CERS1,GDF1c.*779G>C (n.*779G>C)
c.510G>C (p.Ala170=)
c.*1371G>C (n.*1371G>C)
gnomAD v4
19g.18869206C>TCA506118668CERS1,GDF1c.*779G>A (n.*779G>A)
c.510G>A (p.Ala170=)
c.*1371G>A (n.*1371G>A)
gnomAD v4
19g.18869207G>ACA404863115CERS1,GDF1c.*778C>T (n.*778C>T)
c.509C>T (p.Ala170Val)
c.*1370C>T (n.*1370C>T)
gnomAD v4
19g.18869207G>CCA404863117CERS1,GDF1c.*778C>G (n.*778C>G)
c.509C>G (p.Ala170Gly)
c.*1370C>G (n.*1370C>G)
gnomAD v4
19g.18869207G>TCA404863118CERS1,GDF1c.*778C>A (n.*778C>A)
c.509C>A (p.Ala170Glu)
c.*1370C>A (n.*1370C>A)
gnomAD v4
19g.18869207_18869210delinsGCTTCA2326567764CERS1,GDF1c.*775_*778delinsAAGC (n.*775_*778delinsAAGC)
c.506_509delinsAAGC (p.Gln169=)
c.*1367_*1370delinsAAGC (n.*1367_*1370delinsAAGC)
19g.18869208C>ACA404863121CERS1,GDF1c.*777G>T (n.*777G>T)
c.508G>T (p.Ala170Ser)
c.*1369G>T (n.*1369G>T)
gnomAD v4
19g.18869208C>GCA404863122CERS1,GDF1c.*777G>C (n.*777G>C)
c.508G>C (p.Ala170Pro)
c.*1369G>C (n.*1369G>C)
gnomAD v4
19g.18869208C>TCA404863124CERS1,GDF1c.*777G>A (n.*777G>A)
c.508G>A (p.Ala170Thr)
c.*1369G>A (n.*1369G>A)
gnomAD v4
19g.18869208_18869210delCA2326567765CERS1,GDF1c.*775_*777del (n.*775_*777del)
c.506_508del (p.Gln169_Ala170delinsPro)
c.*1367_*1369del (n.*1367_*1369del)
dbSNP
19g.18869209T>ACA404863126CERS1,GDF1c.*776A>T (n.*776A>T)
c.507A>T (p.Gln169His)
c.*1368A>T (n.*1368A>T)
19g.18869209T>CCA506118675CERS1,GDF1c.*776A>G (n.*776A>G)
c.507A>G (p.Gln169=)
c.*1368A>G (n.*1368A>G)
gnomAD v4
19g.18869209T>GCA404863128CERS1,GDF1c.*776A>C (n.*776A>C)
c.507A>C (p.Gln169His)
c.*1368A>C (n.*1368A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869209T=CA2326567766CERS1,GDF1c.*776A= (n.*776A=)
c.507A= (p.Gln169=)
c.*1368A= (n.*1368A=)
19g.18869210T>ACA404863130CERS1,GDF1c.*775A>T (n.*775A>T)
c.506A>T (p.Gln169Leu)
c.*1367A>T (n.*1367A>T)
19g.18869210T>CCA404863131CERS1,GDF1c.*775A>G (n.*775A>G)
c.506A>G (p.Gln169Arg)
c.*1367A>G (n.*1367A>G)
dbSNP gnomAD v4
19g.18869210T>GCA404863132CERS1,GDF1c.*775A>C (n.*775A>C)
c.506A>C (p.Gln169Pro)
c.*1367A>C (n.*1367A>C)
19g.18869210T=CA2326567767CERS1,GDF1c.*775A= (n.*775A=)
c.506A= (p.Gln169=)
c.*1367A= (n.*1367A=)
19g.18869211G>ACA404863133CERS1,GDF1c.*774C>T (n.*774C>T)
c.505C>T (p.Gln169Ter)
c.*1366C>T (n.*1366C>T)
gnomAD v4
19g.18869211G>CCA404863135CERS1,GDF1c.*774C>G (n.*774C>G)
c.505C>G (p.Gln169Glu)
c.*1366C>G (n.*1366C>G)
19g.18869211G>TCA404863134CERS1,GDF1c.*774C>A (n.*774C>A)
c.505C>A (p.Gln169Lys)
c.*1366C>A (n.*1366C>A)
gnomAD v3 gnomAD v4
19g.18869212C>ACA506118679CERS1,GDF1c.*773G>T (n.*773G>T)
c.504G>T (p.Ala168=)
c.*1365G>T (n.*1365G>T)
gnomAD v4
19g.18869212C=CA2326567768CERS1,GDF1c.*773G= (n.*773G=)
c.504G= (p.Ala168=)
c.*1365G= (n.*1365G=)
19g.18869212C>GCA506118681CERS1,GDF1c.*773G>C (n.*773G>C)
c.504G>C (p.Ala168=)
c.*1365G>C (n.*1365G>C)
dbSNP gnomAD v3 gnomAD v4
19g.18869212C>TCA506118683CERS1,GDF1c.*773G>A (n.*773G>A)
c.504G>A (p.Ala168=)
c.*1365G>A (n.*1365G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869213G>ACA404863136CERS1,GDF1c.*772C>T (n.*772C>T)
c.503C>T (p.Ala168Val)
c.*1364C>T (n.*1364C>T)
gnomAD v4
19g.18869213G>CCA404863138CERS1,GDF1c.*772C>G (n.*772C>G)
c.503C>G (p.Ala168Gly)
c.*1364C>G (n.*1364C>G)
19g.18869213G>TCA404863137CERS1,GDF1c.*772C>A (n.*772C>A)
c.503C>A (p.Ala168Glu)
c.*1364C>A (n.*1364C>A)
gnomAD v4
19g.18869214C>ACA404863139CERS1,GDF1c.*771G>T (n.*771G>T)
c.502G>T (p.Ala168Ser)
c.*1363G>T (n.*1363G>T)
gnomAD v4
19g.18869214C>GCA404863140CERS1,GDF1c.*771G>C (n.*771G>C)
c.502G>C (p.Ala168Pro)
c.*1363G>C (n.*1363G>C)
19g.18869214C>TCA404863141CERS1,GDF1c.*771G>A (n.*771G>A)
c.502G>A (p.Ala168Thr)
c.*1363G>A (n.*1363G>A)
gnomAD v4
19g.18869215C>ACA506118686CERS1,GDF1c.*770G>T (n.*770G>T)
c.501G>T (p.Val167=)
c.*1362G>T (n.*1362G>T)
gnomAD v4
19g.18869215C>GCA506118689CERS1,GDF1c.*770G>C (n.*770G>C)
c.501G>C (p.Val167=)
c.*1362G>C (n.*1362G>C)
gnomAD v4
19g.18869215C>TCA506118691CERS1,GDF1c.*770G>A (n.*770G>A)
c.501G>A (p.Val167=)
c.*1362G>A (n.*1362G>A)
gnomAD v4
19g.18869216A>CCA404863143CERS1,GDF1c.*769T>G (n.*769T>G)
c.500T>G (p.Val167Gly)
c.*1361T>G (n.*1361T>G)
19g.18869216A>GCA404863144CERS1,GDF1c.*769T>C (n.*769T>C)
c.500T>C (p.Val167Ala)
c.*1361T>C (n.*1361T>C)
19g.18869216A>TCA404863146CERS1,GDF1c.*769T>A (n.*769T>A)
c.500T>A (p.Val167Glu)
c.*1361T>A (n.*1361T>A)
19g.18869217C>ACA404863147CERS1,GDF1c.*768G>T (n.*768G>T)
c.499G>T (p.Val167Leu)
c.*1360G>T (n.*1360G>T)
gnomAD v4
19g.18869217C>GCA404863148CERS1,GDF1c.*768G>C (n.*768G>C)
c.499G>C (p.Val167Leu)
c.*1360G>C (n.*1360G>C)
19g.18869217C>TCA404863149CERS1,GDF1c.*768G>A (n.*768G>A)
c.499G>A (p.Val167Met)
c.*1360G>A (n.*1360G>A)
gnomAD v4
19g.18869218G>ACA506118695CERS1,GDF1c.*767C>T (n.*767C>T)
c.498C>T (p.Ser166=)
c.*1359C>T (n.*1359C>T)
gnomAD v4
19g.18869218G>CCA404863150CERS1,GDF1c.*767C>G (n.*767C>G)
c.498C>G (p.Ser166Arg)
c.*1359C>G (n.*1359C>G)
19g.18869218G>TCA404863151CERS1,GDF1c.*767C>A (n.*767C>A)
c.498C>A (p.Ser166Arg)
c.*1359C>A (n.*1359C>A)
gnomAD v4
19g.18869219C>ACA404863154CERS1,GDF1c.*766G>T (n.*766G>T)
c.497G>T (p.Ser166Ile)
c.*1358G>T (n.*1358G>T)
gnomAD v4
19g.18869219C>GCA404863152CERS1,GDF1c.*766G>C (n.*766G>C)
c.497G>C (p.Ser166Thr)
c.*1358G>C (n.*1358G>C)
19g.18869219C>TCA404863153CERS1,GDF1c.*766G>A (n.*766G>A)
c.497G>A (p.Ser166Asn)
c.*1358G>A (n.*1358G>A)
19g.18869220T>ACA404863155CERS1,GDF1c.*765A>T (n.*765A>T)
c.496A>T (p.Ser166Cys)
c.*1357A>T (n.*1357A>T)
19g.18869220T>CCA404863156CERS1,GDF1c.*765A>G (n.*765A>G)
c.496A>G (p.Ser166Gly)
c.*1357A>G (n.*1357A>G)
gnomAD v4
19g.18869220T>GCA404863157CERS1,GDF1c.*765A>C (n.*765A>C)
c.496A>C (p.Ser166Arg)
c.*1357A>C (n.*1357A>C)
19g.18869221C>ACA506118697CERS1,GDF1c.*764G>T (n.*764G>T)
c.495G>T (p.Leu165=)
c.*1356G>T (n.*1356G>T)
gnomAD v4
19g.18869221C=CA2326567769CERS1,GDF1c.*764G= (n.*764G=)
c.495G= (p.Leu165=)
c.*1356G= (n.*1356G=)
19g.18869221C>GCA506118698CERS1,GDF1c.*764G>C (n.*764G>C)
c.495G>C (p.Leu165=)
c.*1356G>C (n.*1356G>C)
19g.18869221C>TCA9317924CERS1,GDF1c.*764G>A (n.*764G>A)
c.495G>A (p.Leu165=)
c.*1356G>A (n.*1356G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869222A>CCA404863158CERS1,GDF1c.*763T>G (n.*763T>G)
c.494T>G (p.Leu165Arg)
c.*1355T>G (n.*1355T>G)
19g.18869222A>GCA404863159CERS1,GDF1c.*763T>C (n.*763T>C)
c.494T>C (p.Leu165Pro)
c.*1355T>C (n.*1355T>C)
gnomAD v4
19g.18869222A>TCA404863160CERS1,GDF1c.*763T>A (n.*763T>A)
c.494T>A (p.Leu165Gln)
c.*1355T>A (n.*1355T>A)
19g.18869223G>ACA306231759CERS1,GDF1c.*762C>T (n.*762C>T)
c.493C>T (p.Leu165=)
c.*1354C>T (n.*1354C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869223G>CCA404863161CERS1,GDF1c.*762C>G (n.*762C>G)
c.493C>G (p.Leu165Val)
c.*1354C>G (n.*1354C>G)
19g.18869223G=CA2326567770CERS1,GDF1c.*762C= (n.*762C=)
c.493C= (p.Leu165=)
c.*1354C= (n.*1354C=)
19g.18869223G>TCA404863162CERS1,GDF1c.*762C>A (n.*762C>A)
c.493C>A (p.Leu165Met)
c.*1354C>A (n.*1354C>A)
gnomAD v4
19g.18869224C>ACA404863163CERS1,GDF1c.*761G>T (n.*761G>T)
c.492G>T (p.Glu164Asp)
c.*1353G>T (n.*1353G>T)
gnomAD v4
19g.18869224C=CA2326567771CERS1,GDF1c.*761G= (n.*761G=)
c.492G= (p.Glu164=)
c.*1353G= (n.*1353G=)
19g.18869224C>GCA404863164CERS1,GDF1c.*761G>C (n.*761G>C)
c.492G>C (p.Glu164Asp)
c.*1353G>C (n.*1353G>C)
dbSNP gnomAD v3 gnomAD v4
19g.18869224C>TCA506118699CERS1,GDF1c.*761G>A (n.*761G>A)
c.492G>A (p.Glu164=)
c.*1353G>A (n.*1353G>A)
gnomAD v4
19g.18869225T>ACA404863166CERS1,GDF1c.*760A>T (n.*760A>T)
c.491A>T (p.Glu164Val)
c.*1352A>T (n.*1352A>T)
19g.18869225T>CCA404863167CERS1,GDF1c.*760A>G (n.*760A>G)
c.491A>G (p.Glu164Gly)
c.*1352A>G (n.*1352A>G)
dbSNP gnomAD v3 gnomAD v4
19g.18869225T>GCA404863165CERS1,GDF1c.*760A>C (n.*760A>C)
c.491A>C (p.Glu164Ala)
c.*1352A>C (n.*1352A>C)
19g.18869225T=CA2326567772CERS1,GDF1c.*760A= (n.*760A=)
c.491A= (p.Glu164=)
c.*1352A= (n.*1352A=)
19g.18869226C>ACA404863168CERS1,GDF1c.*759G>T (n.*759G>T)
c.490G>T (p.Glu164Ter)
c.*1351G>T (n.*1351G>T)
19g.18869226C>GCA404863169CERS1,GDF1c.*759G>C (n.*759G>C)
c.490G>C (p.Glu164Gln)
c.*1351G>C (n.*1351G>C)
19g.18869226C>TCA404863170CERS1,GDF1c.*759G>A (n.*759G>A)
c.490G>A (p.Glu164Lys)
c.*1351G>A (n.*1351G>A)
gnomAD v4
19g.18869227C>ACA404863171CERS1,GDF1c.*758G>T (n.*758G>T)
c.489G>T (p.Trp163Cys)
c.*1350G>T (n.*1350G>T)
gnomAD v4
19g.18869227C>GCA404863172CERS1,GDF1c.*758G>C (n.*758G>C)
c.489G>C (p.Trp163Cys)
c.*1350G>C (n.*1350G>C)
19g.18869227C>TCA404863173CERS1,GDF1c.*758G>A (n.*758G>A)
c.489G>A (p.Trp163Ter)
c.*1350G>A (n.*1350G>A)
gnomAD v4
19g.18869228C>ACA404863174CERS1,GDF1c.*757G>T (n.*757G>T)
c.488G>T (p.Trp163Leu)
c.*1349G>T (n.*1349G>T)
gnomAD v4
19g.18869228C>GCA404863175CERS1,GDF1c.*757G>C (n.*757G>C)
c.488G>C (p.Trp163Ser)
c.*1349G>C (n.*1349G>C)
19g.18869228C>TCA404863176CERS1,GDF1c.*757G>A (n.*757G>A)
c.488G>A (p.Trp163Ter)
c.*1349G>A (n.*1349G>A)
19g.18869229A>CCA404863177CERS1,GDF1c.*756T>G (n.*756T>G)
c.487T>G (p.Trp163Gly)
c.*1348T>G (n.*1348T>G)
19g.18869229A>GCA404863178CERS1,GDF1c.*756T>C (n.*756T>C)
c.487T>C (p.Trp163Arg)
c.*1348T>C (n.*1348T>C)
gnomAD v4
19g.18869229A>TCA404863179CERS1,GDF1c.*756T>A (n.*756T>A)
c.487T>A (p.Trp163Arg)
c.*1348T>A (n.*1348T>A)
19g.18869230G>ACA506118703CERS1,GDF1c.*755C>T (n.*755C>T)
c.486C>T (p.Gly162=)
c.*1347C>T (n.*1347C>T)
gnomAD v3 gnomAD v4
19g.18869230G>CCA506118704CERS1,GDF1c.*755C>G (n.*755C>G)
c.486C>G (p.Gly162=)
c.*1347C>G (n.*1347C>G)
dbSNP
19g.18869230G=CA2326567773CERS1,GDF1c.*755C= (n.*755C=)
c.486C= (p.Gly162=)
c.*1347C= (n.*1347C=)
19g.18869230G>TCA506118705CERS1,GDF1c.*755C>A (n.*755C>A)
c.486C>A (p.Gly162=)
c.*1347C>A (n.*1347C>A)
19g.18869231C>ACA404863180CERS1,GDF1c.*754G>T (n.*754G>T)
c.485G>T (p.Gly162Val)
c.*1346G>T (n.*1346G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869231C=CA2326567774CERS1,GDF1c.*754G= (n.*754G=)
c.485G= (p.Gly162=)
c.*1346G= (n.*1346G=)
19g.18869231C>GCA404863181CERS1,GDF1c.*754G>C (n.*754G>C)
c.485G>C (p.Gly162Ala)
c.*1346G>C (n.*1346G>C)
19g.18869231C>TCA247596CERS1,GDF1c.*754G>A (n.*754G>A)
c.485G>A (p.Gly162Asp)
c.*1346G>A (n.*1346G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869232C>ACA404863182CERS1,GDF1c.*753G>T (n.*753G>T)
c.484G>T (p.Gly162Cys)
c.*1345G>T (n.*1345G>T)
gnomAD v4
19g.18869232C=CA2326567775CERS1,GDF1c.*753G= (n.*753G=)
c.484G= (p.Gly162=)
c.*1345G= (n.*1345G=)
19g.18869232C>GCA404863183CERS1,GDF1c.*753G>C (n.*753G>C)
c.484G>C (p.Gly162Arg)
c.*1345G>C (n.*1345G>C)
gnomAD v4
19g.18869232C>TCA404863184CERS1,GDF1c.*753G>A (n.*753G>A)
c.484G>A (p.Gly162Ser)
c.*1345G>A (n.*1345G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869233delCA2583634784CERS1,GDF1c.*752del (n.*752del)
c.483del (p.Gly162AlafsTer4)
c.*1344del (n.*1344del)
gnomAD v4
19g.18869233G>ACA506118707CERS1,GDF1c.*752C>T (n.*752C>T)
c.483C>T (p.Gly161=)
c.*1344C>T (n.*1344C>T)
gnomAD v4
19g.18869233G>CCA506118708CERS1,GDF1c.*752C>G (n.*752C>G)
c.483C>G (p.Gly161=)
c.*1344C>G (n.*1344C>G)
19g.18869233G=CA2326567776CERS1,GDF1c.*752C= (n.*752C=)
c.483C= (p.Gly161=)
c.*1344C= (n.*1344C=)
19g.18869233G>TCA506118709CERS1,GDF1c.*752C>A (n.*752C>A)
c.483C>A (p.Gly161=)
c.*1344C>A (n.*1344C>A)
dbSNP gnomAD v3 gnomAD v4
19g.18869234C>ACA404863185CERS1,GDF1c.*751G>T (n.*751G>T)
c.482G>T (p.Gly161Val)
c.*1343G>T (n.*1343G>T)
19g.18869234C>GCA404863186CERS1,GDF1c.*751G>C (n.*751G>C)
c.482G>C (p.Gly161Ala)
c.*1343G>C (n.*1343G>C)
19g.18869234C>TCA404863187CERS1,GDF1c.*751G>A (n.*751G>A)
c.482G>A (p.Gly161Asp)
c.*1343G>A (n.*1343G>A)
gnomAD v4
19g.18869236delCA2583634785CERS1,GDF1c.*751del (n.*751del)
c.482del (p.Gly161AlafsTer5)
c.*1343del (n.*1343del)
gnomAD v4
19g.18869235C>ACA404863190CERS1,GDF1c.*750G>T (n.*750G>T)
c.481G>T (p.Gly161Cys)
c.*1342G>T (n.*1342G>T)
19g.18869235C>GCA404863188CERS1,GDF1c.*750G>C (n.*750G>C)
c.481G>C (p.Gly161Arg)
c.*1342G>C (n.*1342G>C)
19g.18869235C>TCA404863189CERS1,GDF1c.*750G>A (n.*750G>A)
c.481G>A (p.Gly161Ser)
c.*1342G>A (n.*1342G>A)
19g.18869236C>ACA404863191CERS1,GDF1c.*749G>T (n.*749G>T)
c.480G>T (p.Glu160Asp)
c.*1341G>T (n.*1341G>T)
gnomAD v4
19g.18869236C>GCA404863192CERS1,GDF1c.*749G>C (n.*749G>C)
c.480G>C (p.Glu160Asp)
c.*1341G>C (n.*1341G>C)
19g.18869236C>TCA506118711CERS1,GDF1c.*749G>A (n.*749G>A)
c.480G>A (p.Glu160=)
c.*1341G>A (n.*1341G>A)
gnomAD v4
19g.18869237T>ACA404863193CERS1,GDF1c.*748A>T (n.*748A>T)
c.479A>T (p.Glu160Val)
c.*1340A>T (n.*1340A>T)
dbSNP gnomAD v3 gnomAD v4
19g.18869237T>CCA404863194CERS1,GDF1c.*748A>G (n.*748A>G)
c.479A>G (p.Glu160Gly)
c.*1340A>G (n.*1340A>G)
gnomAD v4
19g.18869237T>GCA404863195CERS1,GDF1c.*748A>C (n.*748A>C)
c.479A>C (p.Glu160Ala)
c.*1340A>C (n.*1340A>C)
19g.18869237T=CA2326567777CERS1,GDF1c.*748A= (n.*748A=)
c.479A= (p.Glu160=)
c.*1340A= (n.*1340A=)
19g.18869237dupCA2695228499CERS1,GDF1c.*748dup (n.*748dup)
c.479dup (p.Gly162ArgfsTer?)
c.*1340dup (n.*1340dup)
19g.18869238C>ACA404863198CERS1,GDF1c.*747G>T (n.*747G>T)
c.478G>T (p.Glu160Ter)
c.*1339G>T (n.*1339G>T)
gnomAD v4
19g.18869238C=CA2326567778CERS1,GDF1c.*747G= (n.*747G=)
c.478G= (p.Glu160=)
c.*1339G= (n.*1339G=)
19g.18869238C>GCA404863196CERS1,GDF1c.*747G>C (n.*747G>C)
c.478G>C (p.Glu160Gln)
c.*1339G>C (n.*1339G>C)
gnomAD v4
19g.18869238C>TCA404863197CERS1,GDF1c.*747G>A (n.*747G>A)
c.478G>A (p.Glu160Lys)
c.*1339G>A (n.*1339G>A)
dbSNP gnomAD v3 gnomAD v4
19g.18869241_18869249dupCA632627053CERS1,GDF1c.*739_*747dup (n.*739_*747dup)
c.470_478dup (p.Pro159_Glu160insAlaAlaPro)
c.*1331_*1339dup (n.*1331_*1339dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869239C>ACA506118715CERS1,GDF1c.*746G>T (n.*746G>T)
c.477G>T (p.Pro159=)
c.*1338G>T (n.*1338G>T)
19g.18869239C=CA2326567779CERS1,GDF1c.*746G= (n.*746G=)
c.477G= (p.Pro159=)
c.*1338G= (n.*1338G=)
19g.18869239C>GCA506118716CERS1,GDF1c.*746G>C (n.*746G>C)
c.477G>C (p.Pro159=)
c.*1338G>C (n.*1338G>C)
19g.18869239C>TCA506118717CERS1,GDF1c.*746G>A (n.*746G>A)
c.477G>A (p.Pro159=)
c.*1338G>A (n.*1338G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869240G>ACA404863199CERS1,GDF1c.*745C>T (n.*745C>T)
c.476C>T (p.Pro159Leu)
c.*1337C>T (n.*1337C>T)
ClinVar dbSNP
19g.18869240G>CCA404863201CERS1,GDF1c.*745C>G (n.*745C>G)
c.476C>G (p.Pro159Arg)
c.*1337C>G (n.*1337C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869240G=CA2326567780CERS1,GDF1c.*745C= (n.*745C=)
c.476C= (p.Pro159=)
c.*1337C= (n.*1337C=)
19g.18869240G>TCA404863200CERS1,GDF1c.*745C>A (n.*745C>A)
c.476C>A (p.Pro159Gln)
c.*1337C>A (n.*1337C>A)
gnomAD v4
19g.18869241_18869246dupCA994235820CERS1,GDF1c.*740_*745dup (n.*740_*745dup)
c.471_476dup (p.Pro159_Glu160insAlaPro)
c.*1332_*1337dup (n.*1332_*1337dup)
dbSNP gnomAD v3 gnomAD v4
19g.18869241G>ACA404863202CERS1,GDF1c.*744C>T (n.*744C>T)
c.475C>T (p.Pro159Ser)
c.*1336C>T (n.*1336C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869241G>CCA404863203CERS1,GDF1c.*744C>G (n.*744C>G)
c.475C>G (p.Pro159Ala)
c.*1336C>G (n.*1336C>G)
19g.18869241G=CA2326567781CERS1,GDF1c.*744C= (n.*744C=)
c.475C= (p.Pro159=)
c.*1336C= (n.*1336C=)
19g.18869241G>TCA404863204CERS1,GDF1c.*744C>A (n.*744C>A)
c.475C>A (p.Pro159Thr)
c.*1336C>A (n.*1336C>A)
gnomAD v4
19g.18869242G>ACA9317925CERS1,GDF1c.*743C>T (n.*743C>T)
c.474C>T (p.Ala158=)
c.*1335C>T (n.*1335C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869242G>CCA506118720CERS1,GDF1c.*743C>G (n.*743C>G)
c.474C>G (p.Ala158=)
c.*1335C>G (n.*1335C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869242G=CA2326567782CERS1,GDF1c.*743C= (n.*743C=)
c.474C= (p.Ala158=)
c.*1335C= (n.*1335C=)
19g.18869242G>TCA306231767CERS1,GDF1c.*743C>A (n.*743C>A)
c.474C>A (p.Ala158=)
c.*1335C>A (n.*1335C>A)
dbSNP
19g.18869242_18869244dupCA2583634786CERS1,GDF1c.*741_*743dup (n.*741_*743dup)
c.472_474dup (p.Ala158_Pro159insAla)
c.*1333_*1335dup (n.*1333_*1335dup)
gnomAD v4
19g.18869243G>ACA404863205CERS1,GDF1c.*742C>T (n.*742C>T)
c.473C>T (p.Ala158Val)
c.*1334C>T (n.*1334C>T)
dbSNP gnomAD v4
19g.18869243G>CCA404863206CERS1,GDF1c.*742C>G (n.*742C>G)
c.473C>G (p.Ala158Gly)
c.*1334C>G (n.*1334C>G)
19g.18869243G=CA2326567783CERS1,GDF1c.*742C= (n.*742C=)
c.473C= (p.Ala158=)
c.*1334C= (n.*1334C=)
19g.18869243G>TCA404863207CERS1,GDF1c.*742C>A (n.*742C>A)
c.473C>A (p.Ala158Asp)
c.*1334C>A (n.*1334C>A)
19g.18869243_18869244dupCA2583634787CERS1,GDF1c.*741_*742dup (n.*741_*742dup)
c.472_473dup (p.Glu160ArgfsTer7)
c.*1333_*1334dup (n.*1333_*1334dup)
gnomAD v4
19g.18869245_18869247dupCA2583634788CERS1,GDF1c.*740_*742dup (n.*740_*742dup)
c.471_473dup (p.Ala158_Pro159insAla)
c.*1332_*1334dup (n.*1332_*1334dup)
gnomAD v4
19g.18869245_18869250dupCA2583634789CERS1,GDF1c.*737_*742dup (n.*737_*742dup)
c.468_473dup (p.Ala158_Pro159insAlaAla)
c.*1329_*1334dup (n.*1329_*1334dup)
gnomAD v4
19g.18869245_18869253dupCA632627054CERS1,GDF1c.*734_*742dup (n.*734_*742dup)
c.465_473dup (p.Ala158_Pro159insAlaAlaAla)
c.*1326_*1334dup (n.*1326_*1334dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869244C>ACA404863208CERS1,GDF1c.*741G>T (n.*741G>T)
c.472G>T (p.Ala158Ser)
c.*1333G>T (n.*1333G>T)
19g.18869244C>GCA404863209CERS1,GDF1c.*741G>C (n.*741G>C)
c.472G>C (p.Ala158Pro)
c.*1333G>C (n.*1333G>C)
19g.18869244C>TCA404863210CERS1,GDF1c.*741G>A (n.*741G>A)
c.472G>A (p.Ala158Thr)
c.*1333G>A (n.*1333G>A)
gnomAD v4
19g.18869245T>ACA506118726CERS1,GDF1c.*740A>T (n.*740A>T)
c.471A>T (p.Ala157=)
c.*1332A>T (n.*1332A>T)
19g.18869245T>CCA506118727CERS1,GDF1c.*740A>G (n.*740A>G)
c.471A>G (p.Ala157=)
c.*1332A>G (n.*1332A>G)
dbSNP gnomAD v4
19g.18869245T>GCA506118728CERS1,GDF1c.*740A>C (n.*740A>C)
c.471A>C (p.Ala157=)
c.*1332A>C (n.*1332A>C)
19g.18869245T=CA2326567785CERS1,GDF1c.*740A= (n.*740A=)
c.471A= (p.Ala157=)
c.*1332A= (n.*1332A=)
19g.18869245_18869254delinsTGCCGCCGCCCA2326567784CERS1,GDF1c.*731_*740delinsGGCGGCGGCA (n.*731_*740delinsGGCGGCGGCA)
c.462_471delinsGGCGGCGGCA (p.Ala154=)
c.*1323_*1332delinsGGCGGCGGCA (n.*1323_*1332delinsGGCGGCGGCA)
19g.18869245_18869246insACCCA2583634790CERS1,GDF1c.*739_*740insGGT (n.*739_*740insGGT)
c.470_471insGGT (p.Ala157_Ala158insVal)
c.*1331_*1332insGGT (n.*1331_*1332insGGT)
gnomAD v4
19g.18869246G>ACA404863212CERS1,GDF1c.*739C>T (n.*739C>T)
c.470C>T (p.Ala157Val)
c.*1331C>T (n.*1331C>T)
gnomAD v4
19g.18869246G>CCA404863211CERS1,GDF1c.*739C>G (n.*739C>G)
c.470C>G (p.Ala157Gly)
c.*1331C>G (n.*1331C>G)
dbSNP gnomAD v3 gnomAD v4
19g.18869246G=CA2326567786CERS1,GDF1c.*739C= (n.*739C=)
c.470C= (p.Ala157=)
c.*1331C= (n.*1331C=)
19g.18869246G>TCA404863213CERS1,GDF1c.*739C>A (n.*739C>A)
c.470C>A (p.Ala157Glu)
c.*1331C>A (n.*1331C>A)
19g.18869260_18869262dupCA203599CERS1,GDF1c.*737_*739dup (n.*737_*739dup)
c.468_470dup (p.Ala157_Ala158insAla)
c.*1329_*1331dup (n.*1329_*1331dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.18869257_18869262dupCA920074481CERS1,GDF1c.*734_*739dup (n.*734_*739dup)
c.465_470dup (p.Ala157_Ala158insAlaAla)
c.*1326_*1331dup (n.*1326_*1331dup)
dbSNP gnomAD v3 gnomAD v4
19g.18869254_18869262dupCA632627055CERS1,GDF1c.*731_*739dup (n.*731_*739dup)
c.462_470dup (p.Ala157_Ala158insAlaAlaAla)
c.*1323_*1331dup (n.*1323_*1331dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869251_18869262dupCA2583634791CERS1,GDF1c.*728_*739dup (n.*728_*739dup)
c.459_470dup (p.Ala157_Ala158insAlaAlaAlaAla)
c.*1320_*1331dup (n.*1320_*1331dup)
gnomAD v4
19g.18869260_18869262delCA9317926CERS1,GDF1c.*737_*739del (n.*737_*739del)
c.468_470del (p.Ala157del)
c.*1329_*1331del (n.*1329_*1331del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869257_18869262delCA632627056CERS1,GDF1c.*734_*739del (n.*734_*739del)
c.465_470del (p.Ala156_Ala157del)
c.*1326_*1331del (n.*1326_*1331del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869254_18869262delCA9317927CERS1,GDF1c.*731_*739del (n.*731_*739del)
c.462_470del (p.Ala155_Ala157del)
c.*1323_*1331del (n.*1323_*1331del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869247C>ACA404863214CERS1,GDF1c.*738G>T (n.*738G>T)
c.469G>T (p.Ala157Ser)
c.*1330G>T (n.*1330G>T)
gnomAD v4
19g.18869247C>GCA404863215CERS1,GDF1c.*738G>C (n.*738G>C)
c.469G>C (p.Ala157Pro)
c.*1330G>C (n.*1330G>C)
19g.18869247C>TCA404863216CERS1,GDF1c.*738G>A (n.*738G>A)
c.469G>A (p.Ala157Thr)
c.*1330G>A (n.*1330G>A)
gnomAD v4
19g.18869247_18869248insGCCCA2499225424CERS1,GDF1c.*738_*739insGCG (n.*738_*739insGCG)
c.469_470insGCG (p.Ala156_Ala157insGly)
c.*1330_*1331insGCG (n.*1330_*1331insGCG)
ClinVar dbSNP
19g.18869248C>ACA506118741CERS1,GDF1c.*737G>T (n.*737G>T)
c.468G>T (p.Ala156=)
c.*1329G>T (n.*1329G>T)
gnomAD v4
19g.18869248C=CA2326567787CERS1,GDF1c.*737G= (n.*737G=)
c.468G= (p.Ala156=)
c.*1329G= (n.*1329G=)
19g.18869248C>GCA506118743CERS1,GDF1c.*737G>C (n.*737G>C)
c.468G>C (p.Ala156=)
c.*1329G>C (n.*1329G>C)
19g.18869248C>TCA506118744CERS1,GDF1c.*737G>A (n.*737G>A)
c.468G>A (p.Ala156=)
c.*1329G>A (n.*1329G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869249G>ACA404863218CERS1,GDF1c.*736C>T (n.*736C>T)
c.467C>T (p.Ala156Val)
c.*1328C>T (n.*1328C>T)
gnomAD v4
19g.18869249G>CCA9317928CERS1,GDF1c.*736C>G (n.*736C>G)
c.467C>G (p.Ala156Gly)
c.*1328C>G (n.*1328C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869249G=CA2326567788CERS1,GDF1c.*736C= (n.*736C=)
c.467C= (p.Ala156=)
c.*1328C= (n.*1328C=)
19g.18869249G>TCA404863217CERS1,GDF1c.*736C>A (n.*736C>A)
c.467C>A (p.Ala156Glu)
c.*1328C>A (n.*1328C>A)
19g.18869250C>ACA404863219CERS1,GDF1c.*735G>T (n.*735G>T)
c.466G>T (p.Ala156Ser)
c.*1327G>T (n.*1327G>T)
gnomAD v4
19g.18869250C>GCA404863220CERS1,GDF1c.*735G>C (n.*735G>C)
c.466G>C (p.Ala156Pro)
c.*1327G>C (n.*1327G>C)
19g.18869250C>TCA404863221CERS1,GDF1c.*735G>A (n.*735G>A)
c.466G>A (p.Ala156Thr)
c.*1327G>A (n.*1327G>A)
gnomAD v4
19g.18869251_18869252insCCCCA2735826574CERS1,GDF1c.*735_*736insGGG (n.*735_*736insGGG)
c.466_467insGGG (p.Ala155_Ala156insGly)
c.*1327_*1328insGGG (n.*1327_*1328insGGG)
dbSNP
19g.18869251_18869252insTCCCA2735826461CERS1,GDF1c.*735_*736insAGG (n.*735_*736insAGG)
c.466_467insAGG (p.Ala155_Ala156insGlu)
c.*1327_*1328insAGG (n.*1327_*1328insAGG)
dbSNP
19g.18869251C>ACA506118751CERS1,GDF1c.*734G>T (n.*734G>T)
c.465G>T (p.Ala155=)
c.*1326G>T (n.*1326G>T)
19g.18869251C=CA2326567789CERS1,GDF1c.*734G= (n.*734G=)
c.465G= (p.Ala155=)
c.*1326G= (n.*1326G=)
19g.18869251C>GCA506118747CERS1,GDF1c.*734G>C (n.*734G>C)
c.465G>C (p.Ala155=)
c.*1326G>C (n.*1326G>C)
gnomAD v4
19g.18869251C>TCA506118749CERS1,GDF1c.*734G>A (n.*734G>A)
c.465G>A (p.Ala155=)
c.*1326G>A (n.*1326G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869252G>ACA306231798CERS1,GDF1c.*733C>T (n.*733C>T)
c.464C>T (p.Ala155Val)
c.*1325C>T (n.*1325C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869252G>CCA404863222CERS1,GDF1c.*733C>G (n.*733C>G)
c.464C>G (p.Ala155Gly)
c.*1325C>G (n.*1325C>G)
19g.18869252G=CA2326567790CERS1,GDF1c.*733C= (n.*733C=)
c.464C= (p.Ala155=)
c.*1325C= (n.*1325C=)
19g.18869252G>TCA404863223CERS1,GDF1c.*733C>A (n.*733C>A)
c.464C>A (p.Ala155Glu)
c.*1325C>A (n.*1325C>A)
19g.18869253C>ACA404863224CERS1,GDF1c.*732G>T (n.*732G>T)
c.463G>T (p.Ala155Ser)
c.*1324G>T (n.*1324G>T)
gnomAD v4
19g.18869253C>GCA404863226CERS1,GDF1c.*732G>C (n.*732G>C)
c.463G>C (p.Ala155Pro)
c.*1324G>C (n.*1324G>C)
19g.18869253C>TCA404863225CERS1,GDF1c.*732G>A (n.*732G>A)
c.463G>A (p.Ala155Thr)
c.*1324G>A (n.*1324G>A)
19g.18869254C>ACA506118757CERS1,GDF1c.*731G>T (n.*731G>T)
c.462G>T (p.Ala154=)
c.*1323G>T (n.*1323G>T)
dbSNP gnomAD v3 gnomAD v4
19g.18869254C=CA2326567791CERS1,GDF1c.*731G= (n.*731G=)
c.462G= (p.Ala154=)
c.*1323G= (n.*1323G=)
19g.18869254C>GCA506118758CERS1,GDF1c.*731G>C (n.*731G>C)
c.462G>C (p.Ala154=)
c.*1323G>C (n.*1323G>C)
19g.18869254C>TCA506118759CERS1,GDF1c.*731G>A (n.*731G>A)
c.462G>A (p.Ala154=)
c.*1323G>A (n.*1323G>A)
gnomAD v4
19g.18869255G>ACA404863227CERS1,GDF1c.*730C>T (n.*730C>T)
c.461C>T (p.Ala154Val)
c.*1322C>T (n.*1322C>T)
gnomAD v4
19g.18869255G>CCA404863228CERS1,GDF1c.*730C>G (n.*730C>G)
c.461C>G (p.Ala154Gly)
c.*1322C>G (n.*1322C>G)
19g.18869255G>TCA404863229CERS1,GDF1c.*730C>A (n.*730C>A)
c.461C>A (p.Ala154Glu)
c.*1322C>A (n.*1322C>A)
gnomAD v4
19g.18869256C>ACA404863230CERS1,GDF1c.*729G>T (n.*729G>T)
c.460G>T (p.Ala154Ser)
c.*1321G>T (n.*1321G>T)
19g.18869256C>GCA404863231CERS1,GDF1c.*729G>C (n.*729G>C)
c.460G>C (p.Ala154Pro)
c.*1321G>C (n.*1321G>C)
19g.18869256C>TCA404863232CERS1,GDF1c.*729G>A (n.*729G>A)
c.460G>A (p.Ala154Thr)
c.*1321G>A (n.*1321G>A)
19g.18869257_18869258insACCCA2735826591CERS1,GDF1c.*729_*730insTGG (n.*729_*730insTGG)
c.460_461insTGG (p.Ala153_Ala154insVal)
c.*1321_*1322insTGG (n.*1321_*1322insTGG)
dbSNP
19g.18869257C>ACA506118760CERS1,GDF1c.*728G>T (n.*728G>T)
c.459G>T (p.Ala153=)
c.*1320G>T (n.*1320G>T)
dbSNP gnomAD v2 gnomAD v4
19g.18869257C=CA2326567792CERS1,GDF1c.*728G= (n.*728G=)
c.459G= (p.Ala153=)
c.*1320G= (n.*1320G=)
19g.18869257C>GCA506118762CERS1,GDF1c.*728G>C (n.*728G>C)
c.459G>C (p.Ala153=)
c.*1320G>C (n.*1320G>C)
19g.18869257C>TCA506118763CERS1,GDF1c.*728G>A (n.*728G>A)
c.459G>A (p.Ala153=)
c.*1320G>A (n.*1320G>A)
gnomAD v4
19g.18869258_18869259delCA2813841593CERS1,GDF1c.*727_*728del (n.*727_*728del)
c.458_459del (p.Ala153GlyfsTer?)
c.*1319_*1320del (n.*1319_*1320del)
19g.18869258delCA2583634793CERS1,GDF1c.*727del (n.*727del)
c.458del (p.Ala153GlyfsTer13)
c.*1319del (n.*1319del)
gnomAD v4
19g.18869258G>ACA404863233CERS1,GDF1c.*727C>T (n.*727C>T)
c.458C>T (p.Ala153Val)
c.*1319C>T (n.*1319C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18869258G>CCA404863234CERS1,GDF1c.*727C>G (n.*727C>G)
c.458C>G (p.Ala153Gly)
c.*1319C>G (n.*1319C>G)
dbSNP gnomAD v2 gnomAD v4
19g.18869258G=CA2326567793CERS1,GDF1c.*727C= (n.*727C=)
c.458C= (p.Ala153=)
c.*1319C= (n.*1319C=)
19g.18869258G>TCA404863235CERS1,GDF1c.*727C>A (n.*727C>A)
c.458C>A (p.Ala153Glu)
c.*1319C>A (n.*1319C>A)
19g.18869258_18869263dupCA2583634792CERS1,GDF1c.*722_*727dup (n.*722_*727dup)
c.453_458dup (p.Ala153_Ala154insAlaAla)
c.*1314_*1319dup (n.*1314_*1319dup)
gnomAD v4
19g.18869259C>ACA404863236CERS1,GDF1c.*726G>T (n.*726G>T)
c.457G>T (p.Ala153Ser)
c.*1318G>T (n.*1318G>T)
gnomAD v4
19g.18869259C=CA2326567794CERS1,GDF1c.*726G= (n.*726G=)
c.457G= (p.Ala153=)
c.*1318G= (n.*1318G=)
19g.18869259C>GCA404863237CERS1,GDF1c.*726G>C (n.*726G>C)
c.457G>C (p.Ala153Pro)
c.*1318G>C (n.*1318G>C)
19g.18869259C>TCA404863238CERS1,GDF1c.*726G>A (n.*726G>A)
c.457G>A (p.Ala153Thr)
c.*1318G>A (n.*1318G>A)
gnomAD v4
19g.18869260C>ACA506118768CERS1,GDF1c.*725G>T (n.*725G>T)
c.456G>T (p.Ala152=)
c.*1317G>T (n.*1317G>T)
gnomAD v4
19g.18869260C=CA2326567795CERS1,GDF1c.*725G= (n.*725G=)
c.456G= (p.Ala152=)
c.*1317G= (n.*1317G=)
19g.18869260C>GCA506118772CERS1,GDF1c.*725G>C (n.*725G>C)
c.456G>C (p.Ala152=)
c.*1317G>C (n.*1317G>C)
dbSNP gnomAD v3 gnomAD v4
19g.18869260C>TCA506118770CERS1,GDF1c.*725G>A (n.*725G>A)
c.456G>A (p.Ala152=)
c.*1317G>A (n.*1317G>A)
dbSNP gnomAD v4
19g.18869262_18869263insCTTCGCCA306231805CERS1,GDF1c.*725_*726insAAGGCG (n.*725_*726insAAGGCG)
c.456_457insAAGGCG (p.Ala152_Ala153insLysAla)
c.*1317_*1318insAAGGCG (n.*1317_*1318insAAGGCG)
dbSNP
19g.18869262_18869263delCA2583634794CERS1,GDF1c.*724_*725del (n.*724_*725del)
c.455_456del (p.Ala152GlyfsTer?)
c.*1316_*1317del (n.*1316_*1317del)
gnomAD v4
19g.18869261G>ACA404863240CERS1,GDF1c.*724C>T (n.*724C>T)
c.455C>T (p.Ala152Val)
c.*1316C>T (n.*1316C>T)
gnomAD v4
19g.18869261G>CCA306231810CERS1,GDF1c.*724C>G (n.*724C>G)
c.455C>G (p.Ala152Gly)
c.*1316C>G (n.*1316C>G)
dbSNP
19g.18869261G=CA2326567796CERS1,GDF1c.*724C= (n.*724C=)
c.455C= (p.Ala152=)
c.*1316C= (n.*1316C=)
19g.18869261G>TCA404863239CERS1,GDF1c.*724C>A (n.*724C>A)
c.455C>A (p.Ala152Glu)
c.*1316C>A (n.*1316C>A)
dbSNP gnomAD v2 gnomAD v4
19g.18869263_18869272delCA2583634795CERS1,GDF1c.*715_*724del (n.*715_*724del)
c.446_455del (p.Leu149ArgfsTer14)
c.*1307_*1316del (n.*1307_*1316del)
gnomAD v4
19g.18869262C>ACA404863241CERS1,GDF1c.*723G>T (n.*723G>T)
c.454G>T (p.Ala152Ser)
c.*1315G>T (n.*1315G>T)
gnomAD v4
19g.18869262C=CA2326567797CERS1,GDF1c.*723G= (n.*723G=)
c.454G= (p.Ala152=)
c.*1315G= (n.*1315G=)
19g.18869262C>GCA404863242CERS1,GDF1c.*723G>C (n.*723G>C)
c.454G>C (p.Ala152Pro)
c.*1315G>C (n.*1315G>C)
19g.18869262C>TCA404863243CERS1,GDF1c.*723G>A (n.*723G>A)
c.454G>A (p.Ala152Thr)
c.*1315G>A (n.*1315G>A)
dbSNP gnomAD v3 gnomAD v4
19g.18869263G>ACA506118775CERS1,GDF1c.*722C>T (n.*722C>T)
c.453C>T (p.Phe151=)
c.*1314C>T (n.*1314C>T)
gnomAD v4
19g.18869263G>CCA404863244CERS1,GDF1c.*722C>G (n.*722C>G)
c.453C>G (p.Phe151Leu)
c.*1314C>G (n.*1314C>G)
dbSNP gnomAD v4
19g.18869263G=CA2326567798CERS1,GDF1c.*722C= (n.*722C=)
c.453C= (p.Phe151=)
c.*1314C= (n.*1314C=)
19g.18869263G>TCA404863245CERS1,GDF1c.*722C>A (n.*722C>A)
c.453C>A (p.Phe151Leu)
c.*1314C>A (n.*1314C>A)
gnomAD v4
19g.18869264A>CCA404863246CERS1,GDF1c.*721T>G (n.*721T>G)
c.452T>G (p.Phe151Cys)
c.*1313T>G (n.*1313T>G)
gnomAD v4
19g.18869264A>GCA404863247CERS1,GDF1c.*721T>C (n.*721T>C)
c.452T>C (p.Phe151Ser)
c.*1313T>C (n.*1313T>C)
19g.18869264A>TCA404863248CERS1,GDF1c.*721T>A (n.*721T>A)
c.452T>A (p.Phe151Tyr)
c.*1313T>A (n.*1313T>A)
gnomAD v4
19g.18869265A>CCA404863249CERS1,GDF1c.*720T>G (n.*720T>G)
c.451T>G (p.Phe151Val)
c.*1312T>G (n.*1312T>G)
19g.18869265A>GCA404863250CERS1,GDF1c.*720T>C (n.*720T>C)
c.451T>C (p.Phe151Leu)
c.*1312T>C (n.*1312T>C)
gnomAD v4
19g.18869265A>TCA404863251CERS1,GDF1c.*720T>A (n.*720T>A)
c.451T>A (p.Phe151Ile)
c.*1312T>A (n.*1312T>A)
19g.18869266A>CCA506118778CERS1,GDF1c.*719T>G (n.*719T>G)
c.450T>G (p.Arg150=)
c.*1311T>G (n.*1311T>G)
19g.18869266A>GCA506118780CERS1,GDF1c.*719T>C (n.*719T>C)
c.450T>C (p.Arg150=)
c.*1311T>C (n.*1311T>C)
gnomAD v4
19g.18869266A>TCA506118779CERS1,GDF1c.*719T>A (n.*719T>A)
c.450T>A (p.Arg150=)
c.*1311T>A (n.*1311T>A)
19g.18869267delCA2583634796CERS1,GDF1c.*718del (n.*718del)
c.449del (p.Arg150LeufsTer16)
c.*1310del (n.*1310del)
gnomAD v4
19g.18869267C>ACA404863254CERS1,GDF1c.*718G>T (n.*718G>T)
c.449G>T (p.Arg150Leu)
c.*1310G>T (n.*1310G>T)
dbSNP gnomAD v4
19g.18869267C=CA2326567799CERS1,GDF1c.*718G= (n.*718G=)
c.449G= (p.Arg150=)
c.*1310G= (n.*1310G=)
19g.18869267C>GCA404863253CERS1,GDF1c.*718G>C (n.*718G>C)
c.449G>C (p.Arg150Pro)
c.*1310G>C (n.*1310G>C)
gnomAD v4
19g.18869267C>TCA404863252CERS1,GDF1c.*718G>A (n.*718G>A)
c.449G>A (p.Arg150His)
c.*1310G>A (n.*1310G>A)
gnomAD v4
19g.18869268G>ACA404863256CERS1,GDF1c.*717C>T (n.*717C>T)
c.448C>T (p.Arg150Cys)
c.*1309C>T (n.*1309C>T)
gnomAD v4
19g.18869268G>CCA404863255CERS1,GDF1c.*717C>G (n.*717C>G)
c.448C>G (p.Arg150Gly)
c.*1309C>G (n.*1309C>G)
19g.18869268G>TCA404863257CERS1,GDF1c.*717C>A (n.*717C>A)
c.448C>A (p.Arg150Ser)
c.*1309C>A (n.*1309C>A)
19g.18869269C>ACA506118784CERS1,GDF1c.*716G>T (n.*716G>T)
c.447G>T (p.Leu149=)
c.*1308G>T (n.*1308G>T)
dbSNP gnomAD v4
19g.18869269C=CA2326567800CERS1,GDF1c.*716G= (n.*716G=)
c.447G= (p.Leu149=)
c.*1308G= (n.*1308G=)
19g.18869269C>GCA506118785CERS1,GDF1c.*716G>C (n.*716G>C)
c.447G>C (p.Leu149=)
c.*1308G>C (n.*1308G>C)
19g.18869269C>TCA506118786CERS1,GDF1c.*716G>A (n.*716G>A)
c.447G>A (p.Leu149=)
c.*1308G>A (n.*1308G>A)
19g.18869270A>CCA404863258CERS1,GDF1c.*715T>G (n.*715T>G)
c.446T>G (p.Leu149Arg)
c.*1307T>G (n.*1307T>G)
19g.18869270A>GCA404863259CERS1,GDF1c.*715T>C (n.*715T>C)
c.446T>C (p.Leu149Pro)
c.*1307T>C (n.*1307T>C)
gnomAD v4
19g.18869270A>TCA404863260CERS1,GDF1c.*715T>A (n.*715T>A)
c.446T>A (p.Leu149Gln)
c.*1307T>A (n.*1307T>A)
19g.18869270_18869271insTCGAAACGCCGAAGCCGCTTCCTCGGCGCACCGCGGGCGAAATGCTGGTCA2741617923CERS1,GDF1c.*714_*715insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (n.*714_*715insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA)
c.445_446insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (p.Leu149HisfsTer?)
c.*1306_*1307insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (n.*1306_*1307insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA)
19g.18869271G>ACA506118787CERS1,GDF1c.*714C>T (n.*714C>T)
c.445C>T (p.Leu149=)
c.*1306C>T (n.*1306C>T)
gnomAD v4
19g.18869271G>CCA404863261CERS1,GDF1c.*714C>G (n.*714C>G)
c.445C>G (p.Leu149Val)
c.*1306C>G (n.*1306C>G)
19g.18869271G>TCA404863262CERS1,GDF1c.*714C>A (n.*714C>A)
c.445C>A (p.Leu149Met)
c.*1306C>A (n.*1306C>A)
gnomAD v4
19g.18869272C>ACA404863263CERS1,GDF1c.*713G>T (n.*713G>T)
c.444G>T (p.Glu148Asp)
c.*1305G>T (n.*1305G>T)
dbSNP gnomAD v4
19g.18869272C=CA2326567801CERS1,GDF1c.*713G= (n.*713G=)
c.444G= (p.Glu148=)
c.*1305G= (n.*1305G=)
19g.18869272C>GCA404863264CERS1,GDF1c.*713G>C (n.*713G>C)
c.444G>C (p.Glu148Asp)
c.*1305G>C (n.*1305G>C)
19g.18869272C>TCA506118792CERS1,GDF1c.*713G>A (n.*713G>A)
c.444G>A (p.Glu148=)
c.*1305G>A (n.*1305G>A)
dbSNP gnomAD v3 gnomAD v4
19g.18869273T>ACA404863265CERS1,GDF1c.*712A>T (n.*712A>T)
c.443A>T (p.Glu148Val)
c.*1304A>T (n.*1304A>T)
19g.18869273T>CCA404863266CERS1,GDF1c.*712A>G (n.*712A>G)
c.443A>G (p.Glu148Gly)
c.*1304A>G (n.*1304A>G)
gnomAD v4
19g.18869273T>GCA404863267CERS1,GDF1c.*712A>C (n.*712A>C)
c.443A>C (p.Glu148Ala)
c.*1304A>C (n.*1304A>C)
19g.18869274C>ACA404863268CERS1,GDF1c.*711G>T (n.*711G>T)
c.442G>T (p.Glu148Ter)
c.*1303G>T (n.*1303G>T)
gnomAD v4
19g.18869274C>GCA404863269CERS1,GDF1c.*711G>C (n.*711G>C)
c.442G>C (p.Glu148Gln)
c.*1303G>C (n.*1303G>C)
19g.18869274C>TCA404863270CERS1,GDF1c.*711G>A (n.*711G>A)
c.442G>A (p.Glu148Lys)
c.*1303G>A (n.*1303G>A)
19g.18869275C>ACA506118797CERS1,GDF1c.*710G>T (n.*710G>T)
c.441G>T (p.Leu147=)
c.*1302G>T (n.*1302G>T)
19g.18869275C=CA2326567802CERS1,GDF1c.*710G= (n.*710G=)
c.441G= (p.Leu147=)
c.*1302G= (n.*1302G=)
19g.18869275C>GCA506118798CERS1,GDF1c.*710G>C (n.*710G>C)
c.441G>C (p.Leu147=)
c.*1302G>C (n.*1302G>C)
gnomAD v4
19g.18869275C>TCA506118800CERS1,GDF1c.*710G>A (n.*710G>A)
c.441G>A (p.Leu147=)
c.*1302G>A (n.*1302G>A)
dbSNP gnomAD v2 gnomAD v4
19g.18869276A>CCA404863273CERS1,GDF1c.*709T>G (n.*709T>G)
c.440T>G (p.Leu147Arg)
c.*1301T>G (n.*1301T>G)
19g.18869276A>GCA404863271CERS1,GDF1c.*709T>C (n.*709T>C)
c.440T>C (p.Leu147Pro)
c.*1301T>C (n.*1301T>C)
gnomAD v4
19g.18869276A>TCA404863272CERS1,GDF1c.*709T>A (n.*709T>A)
c.440T>A (p.Leu147Gln)
c.*1301T>A (n.*1301T>A)
19g.18869277G>ACA506118804CERS1,GDF1c.*708C>T (n.*708C>T)
c.439C>T (p.Leu147=)
c.*1300C>T (n.*1300C>T)
19g.18869277G>CCA404863274CERS1,GDF1c.*708C>G (n.*708C>G)
c.439C>G (p.Leu147Val)
c.*1300C>G (n.*1300C>G)
19g.18869277G>TCA404863275CERS1,GDF1c.*708C>A (n.*708C>A)
c.439C>A (p.Leu147Met)
c.*1300C>A (n.*1300C>A)
gnomAD v4

Number of alleles fetched