Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18868895_18868950delCA2697556433CERS1,GDF1c.*1037_*1092del (n.*1037_*1092del)
c.768_823del (p.Pro257LeufsTer?)
c.*1629_*1684del (n.*1629_*1684del)
 ClinVar
19g.18868901_18868929delinsAGCCGCCGCGCGCGACAAGCGCCCCCGGGCA2326567598CERS1,GDF1c.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT)
c.787_815delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (p.Pro263=)
c.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT)
19g.18868910_18868937delCA632627030CERS1,GDF1c.*1056_*1083del (n.*1056_*1083del)
c.787_814del (p.Pro263CysfsTer3)
c.*1648_*1675del (n.*1648_*1675del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868914_18868924delCA2695228498CERS1,GDF1c.*1062_*1072del (n.*1062_*1072del)
c.793_803del (p.Gly265ArgfsTer?)
c.*1654_*1664del (n.*1654_*1664del)
19g.18868914_18868940delinsGACAAGCGCCCCCGGGGCCGCCGCCCACA2326567612CERS1,GDF1c.*1045_*1071delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (n.*1045_*1071delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC)
c.776_802delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (p.Leu259=)
c.*1637_*1663delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (n.*1637_*1663delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC)
19g.18868914_18868941dupCA2813841589CERS1,GDF1c.*1044_*1071dup (n.*1044_*1071dup)
c.775_802dup (p.Arg268LeufsTer?)
c.*1636_*1663dup (n.*1636_*1663dup)
19g.18868918_18868943delCA16620816CERS1,GDF1c.*1045_*1070del (n.*1045_*1070del)
c.776_801del (p.Leu259SerfsTer?)
c.*1637_*1662del (n.*1637_*1662del)
 ClinVar dbSNP gnomAD v4
19g.18868919G>ACA404862352CERS1,GDF1c.*1066C>T (n.*1066C>T)
c.797C>T (p.Ala266Val)
c.*1658C>T (n.*1658C>T)
 dbSNP gnomAD v4
19g.18868919G>CCA404862353CERS1,GDF1c.*1066C>G (n.*1066C>G)
c.797C>G (p.Ala266Gly)
c.*1658C>G (n.*1658C>G)
 gnomAD v4
19g.18868919G=CA2326567614CERS1,GDF1c.*1066C= (n.*1066C=)
c.797C= (p.Ala266=)
c.*1658C= (n.*1658C=)
19g.18868919G>TCA404862354CERS1,GDF1c.*1066C>A (n.*1066C>A)
c.797C>A (p.Ala266Asp)
c.*1658C>A (n.*1658C>A)
 gnomAD v4
19g.18868920C>ACA404862355CERS1,GDF1c.*1065G>T (n.*1065G>T)
c.796G>T (p.Ala266Ser)
c.*1657G>T (n.*1657G>T)
 gnomAD v4
19g.18868920C=CA2326567615CERS1,GDF1c.*1065G= (n.*1065G=)
c.796G= (p.Ala266=)
c.*1657G= (n.*1657G=)
19g.18868920C>GCA404862356CERS1,GDF1c.*1065G>C (n.*1065G>C)
c.796G>C (p.Ala266Pro)
c.*1657G>C (n.*1657G>C)
 gnomAD v4
19g.18868920C>TCA9317920CERS1,GDF1c.*1065G>A (n.*1065G>A)
c.796G>A (p.Ala266Thr)
c.*1657G>A (n.*1657G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18868921delCA2583634733CERS1,GDF1c.*1064del (n.*1064del)
c.795del (p.Ala266LeufsTer9)
c.*1656del (n.*1656del)
 gnomAD v4
19g.18868921G>ACA506118393CERS1,GDF1c.*1064C>T (n.*1064C>T)
c.795C>T (p.Gly265=)
c.*1656C>T (n.*1656C>T)
 gnomAD v4
19g.18868921G>CCA506118396CERS1,GDF1c.*1064C>G (n.*1064C>G)
c.795C>G (p.Gly265=)
c.*1656C>G (n.*1656C>G)
 gnomAD v4
19g.18868921G=CA2326567616CERS1,GDF1c.*1064C= (n.*1064C=)
c.795C= (p.Gly265=)
c.*1656C= (n.*1656C=)
19g.18868921G>TCA506118400CERS1,GDF1c.*1064C>A (n.*1064C>A)
c.795C>A (p.Gly265=)
c.*1656C>A (n.*1656C>A)
 dbSNP gnomAD v4
19g.18868922C>ACA404862357CERS1,GDF1c.*1063G>T (n.*1063G>T)
c.794G>T (p.Gly265Val)
c.*1655G>T (n.*1655G>T)
 gnomAD v4
19g.18868922C=CA2326567617CERS1,GDF1c.*1063G= (n.*1063G=)
c.794G= (p.Gly265=)
c.*1655G= (n.*1655G=)
19g.18868922C>GCA404862358CERS1,GDF1c.*1063G>C (n.*1063G>C)
c.794G>C (p.Gly265Ala)
c.*1655G>C (n.*1655G>C)
 gnomAD v4
19g.18868922C>TCA9317921CERS1,GDF1c.*1063G>A (n.*1063G>A)
c.794G>A (p.Gly265Asp)
c.*1655G>A (n.*1655G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18868926dupCA632627047CERS1,GDF1c.*1063dup (n.*1063dup)
c.794dup (p.Ala266ArgfsTer?)
c.*1655dup (n.*1655dup)
 gnomAD v2 gnomAD v3 gnomAD v4
19g.18868926delCA632627048CERS1,GDF1c.*1063del (n.*1063del)
c.794del (p.Gly265AlafsTer10)
c.*1655del (n.*1655del)
 gnomAD v2 gnomAD v4
19g.18868923C>ACA404862361CERS1,GDF1c.*1062G>T (n.*1062G>T)
c.793G>T (p.Gly265Cys)
c.*1654G>T (n.*1654G>T)
 gnomAD v4
19g.18868923C>GCA404862360CERS1,GDF1c.*1062G>C (n.*1062G>C)
c.793G>C (p.Gly265Arg)
c.*1654G>C (n.*1654G>C)
19g.18868923C>TCA404862359CERS1,GDF1c.*1062G>A (n.*1062G>A)
c.793G>A (p.Gly265Ser)
c.*1654G>A (n.*1654G>A)
 gnomAD v4
19g.18868924C>ACA506118407CERS1,GDF1c.*1061G>T (n.*1061G>T)
c.792G>T (p.Gly264=)
c.*1653G>T (n.*1653G>T)
 gnomAD v4
19g.18868924C=CA2326567618CERS1,GDF1c.*1061G= (n.*1061G=)
c.792G= (p.Gly264=)
c.*1653G= (n.*1653G=)
19g.18868924C>GCA506118408CERS1,GDF1c.*1061G>C (n.*1061G>C)
c.792G>C (p.Gly264=)
c.*1653G>C (n.*1653G>C)
 gnomAD v4
19g.18868924C>TCA506118409CERS1,GDF1c.*1061G>A (n.*1061G>A)
c.792G>A (p.Gly264=)
c.*1653G>A (n.*1653G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868925C>ACA404862362CERS1,GDF1c.*1060G>T (n.*1060G>T)
c.791G>T (p.Gly264Val)
c.*1652G>T (n.*1652G>T)
 gnomAD v4
19g.18868925C>GCA404862363CERS1,GDF1c.*1060G>C (n.*1060G>C)
c.791G>C (p.Gly264Ala)
c.*1652G>C (n.*1652G>C)
19g.18868925C>TCA404862364CERS1,GDF1c.*1060G>A (n.*1060G>A)
c.791G>A (p.Gly264Glu)
c.*1652G>A (n.*1652G>A)
 gnomAD v4
19g.18868926C>ACA404862365CERS1,GDF1c.*1059G>T (n.*1059G>T)
c.790G>T (p.Gly264Trp)
c.*1651G>T (n.*1651G>T)
 dbSNP gnomAD v4
19g.18868926C=CA2326567620CERS1,GDF1c.*1059G= (n.*1059G=)
c.790G= (p.Gly264=)
c.*1651G= (n.*1651G=)
19g.18868926C>GCA404862366CERS1,GDF1c.*1059G>C (n.*1059G>C)
c.790G>C (p.Gly264Arg)
c.*1651G>C (n.*1651G>C)
 gnomAD v4
19g.18868926C>TCA306231647CERS1,GDF1c.*1059G>A (n.*1059G>A)
c.790G>A (p.Gly264Arg)
c.*1651G>A (n.*1651G>A)
 dbSNP gnomAD v4
19g.18868926_18868927delinsCGCA2326567619CERS1,GDF1c.*1058_*1059delinsCG (n.*1058_*1059delinsCG)
c.789_790delinsCG (p.Pro263=)
c.*1650_*1651delinsCG (n.*1650_*1651delinsCG)
19g.18868926_18868927insTCA2583634734CERS1,GDF1c.*1058_*1059insA (n.*1058_*1059insA)
c.789_790insA (p.Gly264ArgfsTer?)
c.*1650_*1651insA (n.*1650_*1651insA)
 gnomAD v4
19g.18868927G>ACA9317922CERS1,GDF1c.*1058C>T (n.*1058C>T)
c.789C>T (p.Pro263=)
c.*1650C>T (n.*1650C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18868927G>CCA506118427CERS1,GDF1c.*1058C>G (n.*1058C>G)
c.789C>G (p.Pro263=)
c.*1650C>G (n.*1650C>G)
 gnomAD v4
19g.18868927G=CA2326567621CERS1,GDF1c.*1058C= (n.*1058C=)
c.789C= (p.Pro263=)
c.*1650C= (n.*1650C=)
19g.18868927G>TCA506118431CERS1,GDF1c.*1058C>A (n.*1058C>A)
c.789C>A (p.Pro263=)
c.*1650C>A (n.*1650C>A)
 gnomAD v4
19g.18868930dupCA2583634735CERS1,GDF1c.*1058dup (n.*1058dup)
c.789dup (p.Gly264ArgfsTer?)
c.*1650dup (n.*1650dup)
 gnomAD v4
19g.18868930delCA632627049CERS1,GDF1c.*1058del (n.*1058del)
c.789del (p.Gly265AlafsTer10)
c.*1650del (n.*1650del)
 dbSNP gnomAD v2 gnomAD v4
19g.18868928G>ACA404862367CERS1,GDF1c.*1057C>T (n.*1057C>T)
c.788C>T (p.Pro263Leu)
c.*1649C>T (n.*1649C>T)
 ClinVar dbSNP gnomAD v4
19g.18868928G>CCA404862368CERS1,GDF1c.*1057C>G (n.*1057C>G)
c.788C>G (p.Pro263Arg)
c.*1649C>G (n.*1649C>G)
 dbSNP gnomAD v4
19g.18868928G=CA2326567622CERS1,GDF1c.*1057C= (n.*1057C=)
c.788C= (p.Pro263=)
c.*1649C= (n.*1649C=)
19g.18868928G>TCA404862369CERS1,GDF1c.*1057C>A (n.*1057C>A)
c.788C>A (p.Pro263His)
c.*1649C>A (n.*1649C>A)
 gnomAD v4
19g.18868929G>ACA404862370CERS1,GDF1c.*1056C>T (n.*1056C>T)
c.787C>T (p.Pro263Ser)
c.*1648C>T (n.*1648C>T)
 gnomAD v4
19g.18868929G>CCA404862371CERS1,GDF1c.*1056C>G (n.*1056C>G)
c.787C>G (p.Pro263Ala)
c.*1648C>G (n.*1648C>G)
19g.18868929G>TCA404862372CERS1,GDF1c.*1056C>A (n.*1056C>A)
c.787C>A (p.Pro263Thr)
c.*1648C>A (n.*1648C>A)
 gnomAD v4
19g.18868930G>ACA506118436CERS1,GDF1c.*1055C>T (n.*1055C>T)
c.786C>T (p.Gly262=)
c.*1647C>T (n.*1647C>T)
 dbSNP gnomAD v4
19g.18868930G>CCA506118438CERS1,GDF1c.*1055C>G (n.*1055C>G)
c.786C>G (p.Gly262=)
c.*1647C>G (n.*1647C>G)
 gnomAD v4
19g.18868930G=CA2326567623CERS1,GDF1c.*1055C= (n.*1055C=)
c.786C= (p.Gly262=)
c.*1647C= (n.*1647C=)
19g.18868930G>TCA506118441CERS1,GDF1c.*1055C>A (n.*1055C>A)
c.786C>A (p.Gly262=)
c.*1647C>A (n.*1647C>A)
 gnomAD v4
19g.18868931C>ACA404862374CERS1,GDF1c.*1054G>T (n.*1054G>T)
c.785G>T (p.Gly262Val)
c.*1646G>T (n.*1646G>T)
 gnomAD v4
19g.18868931C>GCA404862375CERS1,GDF1c.*1054G>C (n.*1054G>C)
c.785G>C (p.Gly262Ala)
c.*1646G>C (n.*1646G>C)
 gnomAD v4
19g.18868931C>TCA404862373CERS1,GDF1c.*1054G>A (n.*1054G>A)
c.785G>A (p.Gly262Asp)
c.*1646G>A (n.*1646G>A)
 gnomAD v4
19g.18868932C>ACA404862378CERS1,GDF1c.*1053G>T (n.*1053G>T)
c.784G>T (p.Gly262Cys)
c.*1645G>T (n.*1645G>T)
 gnomAD v4
19g.18868932C=CA2326567624CERS1,GDF1c.*1053G= (n.*1053G=)
c.784G= (p.Gly262=)
c.*1645G= (n.*1645G=)
19g.18868932C>GCA404862376CERS1,GDF1c.*1053G>C (n.*1053G>C)
c.784G>C (p.Gly262Arg)
c.*1645G>C (n.*1645G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18868932C>TCA404862377CERS1,GDF1c.*1053G>A (n.*1053G>A)
c.784G>A (p.Gly262Ser)
c.*1645G>A (n.*1645G>A)
 gnomAD v4
19g.18868933G>ACA506118443CERS1,GDF1c.*1052C>T (n.*1052C>T)
c.783C>T (p.Gly261=)
c.*1644C>T (n.*1644C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868933G>CCA506118448CERS1,GDF1c.*1052C>G (n.*1052C>G)
c.783C>G (p.Gly261=)
c.*1644C>G (n.*1644C>G)
 gnomAD v4
19g.18868933G=CA2326567625CERS1,GDF1c.*1052C= (n.*1052C=)
c.783C= (p.Gly261=)
c.*1644C= (n.*1644C=)
19g.18868933G>TCA506118445CERS1,GDF1c.*1052C>A (n.*1052C>A)
c.783C>A (p.Gly261=)
c.*1644C>A (n.*1644C>A)
 gnomAD v4
19g.18868934C>ACA404862379CERS1,GDF1c.*1051G>T (n.*1051G>T)
c.782G>T (p.Gly261Val)
c.*1643G>T (n.*1643G>T)
 gnomAD v4
19g.18868934C>GCA404862380CERS1,GDF1c.*1051G>C (n.*1051G>C)
c.782G>C (p.Gly261Ala)
c.*1643G>C (n.*1643G>C)
 gnomAD v4
19g.18868934C>TCA404862381CERS1,GDF1c.*1051G>A (n.*1051G>A)
c.782G>A (p.Gly261Asp)
c.*1643G>A (n.*1643G>A)
 gnomAD v4
19g.18868935C>ACA404862382CERS1,GDF1c.*1050G>T (n.*1050G>T)
c.781G>T (p.Gly261Cys)
c.*1642G>T (n.*1642G>T)
 gnomAD v4
19g.18868935C>GCA404862383CERS1,GDF1c.*1050G>C (n.*1050G>C)
c.781G>C (p.Gly261Arg)
c.*1642G>C (n.*1642G>C)
19g.18868935C>TCA404862384CERS1,GDF1c.*1050G>A (n.*1050G>A)
c.781G>A (p.Gly261Ser)
c.*1642G>A (n.*1642G>A)
 gnomAD v4
19g.18868936G>ACA10603930CERS1,GDF1c.*1049C>T (n.*1049C>T)
c.780C>T (p.Gly260=)
c.*1641C>T (n.*1641C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18868936G>CCA506118452CERS1,GDF1c.*1049C>G (n.*1049C>G)
c.780C>G (p.Gly260=)
c.*1641C>G (n.*1641C>G)
 gnomAD v4
19g.18868936G=CA2326567626CERS1,GDF1c.*1049C= (n.*1049C=)
c.780C= (p.Gly260=)
c.*1641C= (n.*1641C=)
19g.18868936G>TCA506118453CERS1,GDF1c.*1049C>A (n.*1049C>A)
c.780C>A (p.Gly260=)
c.*1641C>A (n.*1641C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868936_18868937delinsGCCA2326567627CERS1,GDF1c.*1048_*1049delinsGC (n.*1048_*1049delinsGC)
c.779_780delinsGC (p.Gly260=)
c.*1640_*1641delinsGC (n.*1640_*1641delinsGC)
19g.18868937C>ACA9317923CERS1,GDF1c.*1048G>T (n.*1048G>T)
c.779G>T (p.Gly260Val)
c.*1640G>T (n.*1640G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18868937C=CA2326567628CERS1,GDF1c.*1048G= (n.*1048G=)
c.779G= (p.Gly260=)
c.*1640G= (n.*1640G=)
19g.18868937C>GCA404862385CERS1,GDF1c.*1048G>C (n.*1048G>C)
c.779G>C (p.Gly260Ala)
c.*1640G>C (n.*1640G>C)
 gnomAD v4
19g.18868937C>TCA404862386CERS1,GDF1c.*1048G>A (n.*1048G>A)
c.779G>A (p.Gly260Asp)
c.*1640G>A (n.*1640G>A)
 gnomAD v4
19g.18868939delCA994235610CERS1,GDF1c.*1048del (n.*1048del)
c.779del (p.Gly260AlafsTer15)
c.*1640del (n.*1640del)
 dbSNP gnomAD v3 gnomAD v4
19g.18868938C>ACA404862389CERS1,GDF1c.*1047G>T (n.*1047G>T)
c.778G>T (p.Gly260Cys)
c.*1639G>T (n.*1639G>T)
 gnomAD v4
19g.18868938C=CA2326567629CERS1,GDF1c.*1047G= (n.*1047G=)
c.778G= (p.Gly260=)
c.*1639G= (n.*1639G=)
19g.18868938C>GCA404862388CERS1,GDF1c.*1047G>C (n.*1047G>C)
c.778G>C (p.Gly260Arg)
c.*1639G>C (n.*1639G>C)
 dbSNP gnomAD v4
19g.18868938C>TCA404862387CERS1,GDF1c.*1047G>A (n.*1047G>A)
c.778G>A (p.Gly260Ser)
c.*1639G>A (n.*1639G>A)
 gnomAD v4
19g.18868939C>ACA404862390CERS1,GDF1c.*1046G>T (n.*1046G>T)
c.777G>T (p.Leu259Phe)
c.*1638G>T (n.*1638G>T)
 gnomAD v4
19g.18868939C=CA2326567630CERS1,GDF1c.*1046G= (n.*1046G=)
c.777G= (p.Leu259=)
c.*1638G= (n.*1638G=)
19g.18868939C>GCA404862391CERS1,GDF1c.*1046G>C (n.*1046G>C)
c.777G>C (p.Leu259Phe)
c.*1638G>C (n.*1638G>C)
 dbSNP gnomAD v4
19g.18868939C>TCA506118457CERS1,GDF1c.*1046G>A (n.*1046G>A)
c.777G>A (p.Leu259=)
c.*1638G>A (n.*1638G>A)
 gnomAD v4
19g.18868940A>CCA404862392CERS1,GDF1c.*1045T>G (n.*1045T>G)
c.776T>G (p.Leu259Trp)
c.*1637T>G (n.*1637T>G)
 gnomAD v4
19g.18868940A>GCA404862393CERS1,GDF1c.*1045T>C (n.*1045T>C)
c.776T>C (p.Leu259Ser)
c.*1637T>C (n.*1637T>C)
 gnomAD v4
19g.18868940A>TCA404862394CERS1,GDF1c.*1045T>A (n.*1045T>A)
c.776T>A (p.Leu259Ter)
c.*1637T>A (n.*1637T>A)
 gnomAD v4
19g.18868941A>CCA404862395CERS1,GDF1c.*1044T>G (n.*1044T>G)
c.775T>G (p.Leu259Val)
c.*1636T>G (n.*1636T>G)
 gnomAD v4
19g.18868941A>GCA506118461CERS1,GDF1c.*1044T>C (n.*1044T>C)
c.775T>C (p.Leu259=)
c.*1636T>C (n.*1636T>C)
 gnomAD v4
19g.18868941A>TCA404862396CERS1,GDF1c.*1044T>A (n.*1044T>A)
c.775T>A (p.Leu259Met)
c.*1636T>A (n.*1636T>A)
 gnomAD v4
19g.18868942C>ACA506118462CERS1,GDF1c.*1043G>T (n.*1043G>T)
c.774G>T (p.Val258=)
c.*1635G>T (n.*1635G>T)
 gnomAD v4
19g.18868942C>GCA506118463CERS1,GDF1c.*1043G>C (n.*1043G>C)
c.774G>C (p.Val258=)
c.*1635G>C (n.*1635G>C)
 gnomAD v4
19g.18868942C>TCA506118465CERS1,GDF1c.*1043G>A (n.*1043G>A)
c.774G>A (p.Val258=)
c.*1635G>A (n.*1635G>A)
 gnomAD v4
19g.18868943A>CCA404862397CERS1,GDF1c.*1042T>G (n.*1042T>G)
c.773T>G (p.Val258Gly)
c.*1634T>G (n.*1634T>G)
19g.18868943A>GCA404862398CERS1,GDF1c.*1042T>C (n.*1042T>C)
c.773T>C (p.Val258Ala)
c.*1634T>C (n.*1634T>C)
 gnomAD v4
19g.18868943A>TCA404862399CERS1,GDF1c.*1042T>A (n.*1042T>A)
c.773T>A (p.Val258Glu)
c.*1634T>A (n.*1634T>A)
 gnomAD v4
19g.18868944C>ACA404862400CERS1,GDF1c.*1041G>T (n.*1041G>T)
c.772G>T (p.Val258Leu)
c.*1633G>T (n.*1633G>T)
 gnomAD v4
19g.18868944C=CA2326567631CERS1,GDF1c.*1041G= (n.*1041G=)
c.772G= (p.Val258=)
c.*1633G= (n.*1633G=)
19g.18868944C>GCA404862401CERS1,GDF1c.*1041G>C (n.*1041G>C)
c.772G>C (p.Val258Leu)
c.*1633G>C (n.*1633G>C)
19g.18868944C>TCA404862402CERS1,GDF1c.*1041G>A (n.*1041G>A)
c.772G>A (p.Val258Met)
c.*1633G>A (n.*1633G>A)
 ClinVar dbSNP gnomAD v4
19g.18868945G>ACA506118469CERS1,GDF1c.*1040C>T (n.*1040C>T)
c.771C>T (p.Pro257=)
c.*1632C>T (n.*1632C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868945G>CCA506118471CERS1,GDF1c.*1040C>G (n.*1040C>G)
c.771C>G (p.Pro257=)
c.*1632C>G (n.*1632C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.18868945G=CA2326567632CERS1,GDF1c.*1040C= (n.*1040C=)
c.771C= (p.Pro257=)
c.*1632C= (n.*1632C=)
19g.18868945G>TCA506118470CERS1,GDF1c.*1040C>A (n.*1040C>A)
c.771C>A (p.Pro257=)
c.*1632C>A (n.*1632C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18868947delCA2583634736CERS1,GDF1c.*1040del (n.*1040del)
c.771del (p.Val258CysfsTer17)
c.*1632del (n.*1632del)
 gnomAD v4
19g.18868946G>ACA404862405CERS1,GDF1c.*1039C>T (n.*1039C>T)
c.770C>T (p.Pro257Leu)
c.*1631C>T (n.*1631C>T)
 dbSNP gnomAD v4
19g.18868946G>CCA404862404CERS1,GDF1c.*1039C>G (n.*1039C>G)
c.770C>G (p.Pro257Arg)
c.*1631C>G (n.*1631C>G)
19g.18868946G=CA2326567633CERS1,GDF1c.*1039C= (n.*1039C=)
c.770C= (p.Pro257=)
c.*1631C= (n.*1631C=)
19g.18868946G>TCA404862403CERS1,GDF1c.*1039C>A (n.*1039C>A)
c.770C>A (p.Pro257His)
c.*1631C>A (n.*1631C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868947G>ACA404862408CERS1,GDF1c.*1038C>T (n.*1038C>T)
c.769C>T (p.Pro257Ser)
c.*1630C>T (n.*1630C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868947G>CCA404862406CERS1,GDF1c.*1038C>G (n.*1038C>G)
c.769C>G (p.Pro257Ala)
c.*1630C>G (n.*1630C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18868947G=CA2326567634CERS1,GDF1c.*1038C= (n.*1038C=)
c.769C= (p.Pro257=)
c.*1630C= (n.*1630C=)
19g.18868947G>TCA404862407CERS1,GDF1c.*1038C>A (n.*1038C>A)
c.769C>A (p.Pro257Thr)
c.*1630C>A (n.*1630C>A)
 gnomAD v4
19g.18868948T>ACA404862409CERS1,GDF1c.*1037A>T (n.*1037A>T)
c.768A>T (p.Glu256Asp)
c.*1629A>T (n.*1629A>T)
 gnomAD v4
19g.18868948T>CCA506118475CERS1,GDF1c.*1037A>G (n.*1037A>G)
c.768A>G (p.Glu256=)
c.*1629A>G (n.*1629A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18868948T>GCA404862410CERS1,GDF1c.*1037A>C (n.*1037A>C)
c.768A>C (p.Glu256Asp)
c.*1629A>C (n.*1629A>C)
19g.18868948T=CA2326567635CERS1,GDF1c.*1037A= (n.*1037A=)
c.768A= (p.Glu256=)
c.*1629A= (n.*1629A=)
19g.18868949T>ACA404862411CERS1,GDF1c.*1036A>T (n.*1036A>T)
c.767A>T (p.Glu256Val)
c.*1628A>T (n.*1628A>T)
 gnomAD v4
19g.18868949T>CCA306231673CERS1,GDF1c.*1036A>G (n.*1036A>G)
c.767A>G (p.Glu256Gly)
c.*1628A>G (n.*1628A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868949T>GCA404862412CERS1,GDF1c.*1036A>C (n.*1036A>C)
c.767A>C (p.Glu256Ala)
c.*1628A>C (n.*1628A>C)
19g.18868949T=CA2326567636CERS1,GDF1c.*1036A= (n.*1036A=)
c.767A= (p.Glu256=)
c.*1628A= (n.*1628A=)
19g.18868950delCA2583634737CERS1,GDF1c.*1035del (n.*1035del)
c.766del (p.Glu256AsnfsTer19)
c.*1627del (n.*1627del)
 gnomAD v4
19g.18868950C>ACA404862413CERS1,GDF1c.*1035G>T (n.*1035G>T)
c.766G>T (p.Glu256Ter)
c.*1627G>T (n.*1627G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18868950C=CA2326567637CERS1,GDF1c.*1035G= (n.*1035G=)
c.766G= (p.Glu256=)
c.*1627G= (n.*1627G=)
19g.18868950C>GCA404862414CERS1,GDF1c.*1035G>C (n.*1035G>C)
c.766G>C (p.Glu256Gln)
c.*1627G>C (n.*1627G>C)
 gnomAD v4
19g.18868950C>TCA306231677CERS1,GDF1c.*1035G>A (n.*1035G>A)
c.766G>A (p.Glu256Lys)
c.*1627G>A (n.*1627G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868951G>ACA506118479CERS1,GDF1c.*1034C>T (n.*1034C>T)
c.765C>T (p.Ala255=)
c.*1626C>T (n.*1626C>T)
 gnomAD v4
19g.18868951G>CCA506118481CERS1,GDF1c.*1034C>G (n.*1034C>G)
c.765C>G (p.Ala255=)
c.*1626C>G (n.*1626C>G)
19g.18868951G=CA2326567638CERS1,GDF1c.*1034C= (n.*1034C=)
c.765C= (p.Ala255=)
c.*1626C= (n.*1626C=)
19g.18868951G>TCA506118480CERS1,GDF1c.*1034C>A (n.*1034C>A)
c.765C>A (p.Ala255=)
c.*1626C>A (n.*1626C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18868951_18868956delinsGGCGTCCA2326567639CERS1,GDF1c.*1029_*1034delinsGACGCC (n.*1029_*1034delinsGACGCC)
c.760_765delinsGACGCC (p.Asp254=)
c.*1621_*1626delinsGACGCC (n.*1621_*1626delinsGACGCC)
19g.18868956_18869059delCA2583634738CERS1,GDF1c.*931_*1034del (n.*931_*1034del)
c.662_765del (p.Pro221ArgfsTer?)
c.*1523_*1626del (n.*1523_*1626del)
 gnomAD v4
19g.18868952G>ACA404862415CERS1,GDF1c.*1033C>T (n.*1033C>T)
c.764C>T (p.Ala255Val)
c.*1625C>T (n.*1625C>T)
 gnomAD v4
19g.18868952G>CCA404862416CERS1,GDF1c.*1033C>G (n.*1033C>G)
c.764C>G (p.Ala255Gly)
c.*1625C>G (n.*1625C>G)
 dbSNP
19g.18868952G=CA2326567641CERS1,GDF1c.*1033C= (n.*1033C=)
c.764C= (p.Ala255=)
c.*1625C= (n.*1625C=)
19g.18868952G>TCA404862417CERS1,GDF1c.*1033C>A (n.*1033C>A)
c.764C>A (p.Ala255Asp)
c.*1625C>A (n.*1625C>A)
 gnomAD v4
19g.18868955_18868959delCA2326567640CERS1,GDF1c.*1029_*1033del (n.*1029_*1033del)
c.760_764del (p.Asp254ArgfsTer?)
c.*1621_*1625del (n.*1621_*1625del)
 dbSNP
19g.18868953C>ACA404862418CERS1,GDF1c.*1032G>T (n.*1032G>T)
c.763G>T (p.Ala255Ser)
c.*1624G>T (n.*1624G>T)
 gnomAD v4
19g.18868953C=CA2326567642CERS1,GDF1c.*1032G= (n.*1032G=)
c.763G= (p.Ala255=)
c.*1624G= (n.*1624G=)
19g.18868953C>GCA404862419CERS1,GDF1c.*1032G>C (n.*1032G>C)
c.763G>C (p.Ala255Pro)
c.*1624G>C (n.*1624G>C)
 gnomAD v4
19g.18868953C>TCA306231681CERS1,GDF1c.*1032G>A (n.*1032G>A)
c.763G>A (p.Ala255Thr)
c.*1624G>A (n.*1624G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18868954G>ACA506118487CERS1,GDF1c.*1031C>T (n.*1031C>T)
c.762C>T (p.Asp254=)
c.*1623C>T (n.*1623C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868954G>CCA404862420CERS1,GDF1c.*1031C>G (n.*1031C>G)
c.762C>G (p.Asp254Glu)
c.*1623C>G (n.*1623C>G)
 gnomAD v4
19g.18868954G=CA2326567643CERS1,GDF1c.*1031C= (n.*1031C=)
c.762C= (p.Asp254=)
c.*1623C= (n.*1623C=)
19g.18868954G>TCA404862421CERS1,GDF1c.*1031C>A (n.*1031C>A)
c.762C>A (p.Asp254Glu)
c.*1623C>A (n.*1623C>A)
 dbSNP gnomAD v4
19g.18868955T>ACA404862422CERS1,GDF1c.*1030A>T (n.*1030A>T)
c.761A>T (p.Asp254Val)
c.*1622A>T (n.*1622A>T)
19g.18868955T>CCA404862423CERS1,GDF1c.*1030A>G (n.*1030A>G)
c.761A>G (p.Asp254Gly)
c.*1622A>G (n.*1622A>G)
 gnomAD v4
19g.18868955T>GCA404862424CERS1,GDF1c.*1030A>C (n.*1030A>C)
c.761A>C (p.Asp254Ala)
c.*1622A>C (n.*1622A>C)
 ClinVar
19g.18868956C>ACA404862427CERS1,GDF1c.*1029G>T (n.*1029G>T)
c.760G>T (p.Asp254Tyr)
c.*1621G>T (n.*1621G>T)
 gnomAD v4
19g.18868956C>GCA404862425CERS1,GDF1c.*1029G>C (n.*1029G>C)
c.760G>C (p.Asp254His)
c.*1621G>C (n.*1621G>C)
 gnomAD v4
19g.18868956C>TCA404862426CERS1,GDF1c.*1029G>A (n.*1029G>A)
c.760G>A (p.Asp254Asn)
c.*1621G>A (n.*1621G>A)
 gnomAD v3 gnomAD v4
19g.18868957G>ACA506118493CERS1,GDF1c.*1028C>T (n.*1028C>T)
c.759C>T (p.Arg253=)
c.*1620C>T (n.*1620C>T)
 gnomAD v4
19g.18868957G>CCA506118494CERS1,GDF1c.*1028C>G (n.*1028C>G)
c.759C>G (p.Arg253=)
c.*1620C>G (n.*1620C>G)
19g.18868957G=CA2326567644CERS1,GDF1c.*1028C= (n.*1028C=)
c.759C= (p.Arg253=)
c.*1620C= (n.*1620C=)
19g.18868957G>TCA506118495CERS1,GDF1c.*1028C>A (n.*1028C>A)
c.759C>A (p.Arg253=)
c.*1620C>A (n.*1620C>A)
 dbSNP gnomAD v4
19g.18868958C>ACA404862428CERS1,GDF1c.*1027G>T (n.*1027G>T)
c.758G>T (p.Arg253Leu)
c.*1619G>T (n.*1619G>T)
 gnomAD v4
19g.18868958C>GCA404862429CERS1,GDF1c.*1027G>C (n.*1027G>C)
c.758G>C (p.Arg253Pro)
c.*1619G>C (n.*1619G>C)
19g.18868958C>TCA404862430CERS1,GDF1c.*1027G>A (n.*1027G>A)
c.758G>A (p.Arg253His)
c.*1619G>A (n.*1619G>A)
 gnomAD v4
19g.18868959G>ACA404862431CERS1,GDF1c.*1026C>T (n.*1026C>T)
c.757C>T (p.Arg253Cys)
c.*1618C>T (n.*1618C>T)
 gnomAD v4
19g.18868959G>CCA404862432CERS1,GDF1c.*1026C>G (n.*1026C>G)
c.757C>G (p.Arg253Gly)
c.*1618C>G (n.*1618C>G)
 gnomAD v4
19g.18868959G>TCA404862433CERS1,GDF1c.*1026C>A (n.*1026C>A)
c.757C>A (p.Arg253Ser)
c.*1618C>A (n.*1618C>A)
 gnomAD v4
19g.18868960C>ACA506118501CERS1,GDF1c.*1025G>T (n.*1025G>T)
c.756G>T (p.Arg252=)
c.*1617G>T (n.*1617G>T)
 gnomAD v4
19g.18868960C>GCA506118502CERS1,GDF1c.*1025G>C (n.*1025G>C)
c.756G>C (p.Arg252=)
c.*1617G>C (n.*1617G>C)
 gnomAD v4
19g.18868960C>TCA506118503CERS1,GDF1c.*1025G>A (n.*1025G>A)
c.756G>A (p.Arg252=)
c.*1617G>A (n.*1617G>A)
 gnomAD v4
19g.18868961C>ACA404862435CERS1,GDF1c.*1024G>T (n.*1024G>T)
c.755G>T (p.Arg252Leu)
c.*1616G>T (n.*1616G>T)
 gnomAD v4
19g.18868961C>GCA404862436CERS1,GDF1c.*1024G>C (n.*1024G>C)
c.755G>C (p.Arg252Pro)
c.*1616G>C (n.*1616G>C)
19g.18868961C>TCA404862434CERS1,GDF1c.*1024G>A (n.*1024G>A)
c.755G>A (p.Arg252Gln)
c.*1616G>A (n.*1616G>A)
 gnomAD v4
19g.18868961_18868962insTGTCCA2583634739CERS1,GDF1c.*1024_*1025insACAG (n.*1024_*1025insACAG)
c.755_756insACAG (p.Arg253GlnfsTer?)
c.*1616_*1617insACAG (n.*1616_*1617insACAG)
 gnomAD v4
19g.18868962G>ACA404862437CERS1,GDF1c.*1023C>T (n.*1023C>T)
c.754C>T (p.Arg252Trp)
c.*1615C>T (n.*1615C>T)
 gnomAD v4
19g.18868962G>CCA404862438CERS1,GDF1c.*1023C>G (n.*1023C>G)
c.754C>G (p.Arg252Gly)
c.*1615C>G (n.*1615C>G)
19g.18868962G>TCA506118504CERS1,GDF1c.*1023C>A (n.*1023C>A)
c.754C>A (p.Arg252=)
c.*1615C>A (n.*1615C>A)
 gnomAD v4
19g.18868963C>ACA506118506CERS1,GDF1c.*1022G>T (n.*1022G>T)
c.753G>T (p.Pro251=)
c.*1614G>T (n.*1614G>T)
 gnomAD v4
19g.18868963C=CA2326567645CERS1,GDF1c.*1022G= (n.*1022G=)
c.753G= (p.Pro251=)
c.*1614G= (n.*1614G=)
19g.18868963C>GCA506118508CERS1,GDF1c.*1022G>C (n.*1022G>C)
c.753G>C (p.Pro251=)
c.*1614G>C (n.*1614G>C)
19g.18868963C>TCA506118510CERS1,GDF1c.*1022G>A (n.*1022G>A)
c.753G>A (p.Pro251=)
c.*1614G>A (n.*1614G>A)
 dbSNP gnomAD v4
19g.18868964G>ACA404862439CERS1,GDF1c.*1021C>T (n.*1021C>T)
c.752C>T (p.Pro251Leu)
c.*1613C>T (n.*1613C>T)
 gnomAD v4
19g.18868964G>CCA404862440CERS1,GDF1c.*1021C>G (n.*1021C>G)
c.752C>G (p.Pro251Arg)
c.*1613C>G (n.*1613C>G)
 dbSNP
19g.18868964G=CA2326567646CERS1,GDF1c.*1021C= (n.*1021C=)
c.752C= (p.Pro251=)
c.*1613C= (n.*1613C=)
19g.18868964G>TCA404862441CERS1,GDF1c.*1021C>A (n.*1021C>A)
c.752C>A (p.Pro251Gln)
c.*1613C>A (n.*1613C>A)
 gnomAD v4
19g.18868965G>ACA404862442CERS1,GDF1c.*1020C>T (n.*1020C>T)
c.751C>T (p.Pro251Ser)
c.*1612C>T (n.*1612C>T)
 gnomAD v4
19g.18868965G>CCA404862443CERS1,GDF1c.*1020C>G (n.*1020C>G)
c.751C>G (p.Pro251Ala)
c.*1612C>G (n.*1612C>G)
 gnomAD v4
19g.18868965G>TCA404862444CERS1,GDF1c.*1020C>A (n.*1020C>A)
c.751C>A (p.Pro251Thr)
c.*1612C>A (n.*1612C>A)
 gnomAD v4
19g.18868966C>ACA506118511CERS1,GDF1c.*1019G>T (n.*1019G>T)
c.750G>T (p.Arg250=)
c.*1611G>T (n.*1611G>T)
 gnomAD v4
19g.18868966C>GCA506118514CERS1,GDF1c.*1019G>C (n.*1019G>C)
c.750G>C (p.Arg250=)
c.*1611G>C (n.*1611G>C)
19g.18868966C>TCA506118512CERS1,GDF1c.*1019G>A (n.*1019G>A)
c.750G>A (p.Arg250=)
c.*1611G>A (n.*1611G>A)
 gnomAD v4
19g.18868967C>ACA404862447CERS1,GDF1c.*1018G>T (n.*1018G>T)
c.749G>T (p.Arg250Leu)
c.*1610G>T (n.*1610G>T)
 gnomAD v4
19g.18868967C=CA2326567647CERS1,GDF1c.*1018G= (n.*1018G=)
c.749G= (p.Arg250=)
c.*1610G= (n.*1610G=)
19g.18868967C>GCA404862445CERS1,GDF1c.*1018G>C (n.*1018G>C)
c.749G>C (p.Arg250Pro)
c.*1610G>C (n.*1610G>C)
19g.18868967C>TCA404862446CERS1,GDF1c.*1018G>A (n.*1018G>A)
c.749G>A (p.Arg250Gln)
c.*1610G>A (n.*1610G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18868968G>ACA404862448CERS1,GDF1c.*1017C>T (n.*1017C>T)
c.748C>T (p.Arg250Trp)
c.*1609C>T (n.*1609C>T)
 gnomAD v4
19g.18868968G>CCA404862449CERS1,GDF1c.*1017C>G (n.*1017C>G)
c.748C>G (p.Arg250Gly)
c.*1609C>G (n.*1609C>G)
19g.18868968G>TCA506118516CERS1,GDF1c.*1017C>A (n.*1017C>A)
c.748C>A (p.Arg250=)
c.*1609C>A (n.*1609C>A)
 gnomAD v4
19g.18868969G>ACA506118517CERS1,GDF1c.*1016C>T (n.*1016C>T)
c.747C>T (p.Ala249=)
c.*1608C>T (n.*1608C>T)
 gnomAD v4
19g.18868969G>CCA506118519CERS1,GDF1c.*1016C>G (n.*1016C>G)
c.747C>G (p.Ala249=)
c.*1608C>G (n.*1608C>G)
 gnomAD v4
19g.18868969G>TCA506118521CERS1,GDF1c.*1016C>A (n.*1016C>A)
c.747C>A (p.Ala249=)
c.*1608C>A (n.*1608C>A)
 gnomAD v4
19g.18868970G>ACA404862450CERS1,GDF1c.*1015C>T (n.*1015C>T)
c.746C>T (p.Ala249Val)
c.*1607C>T (n.*1607C>T)
 gnomAD v4
19g.18868970G>CCA404862451CERS1,GDF1c.*1015C>G (n.*1015C>G)
c.746C>G (p.Ala249Gly)
c.*1607C>G (n.*1607C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18868970G=CA2326567648CERS1,GDF1c.*1015C= (n.*1015C=)
c.746C= (p.Ala249=)
c.*1607C= (n.*1607C=)
19g.18868970G>TCA404862452CERS1,GDF1c.*1015C>A (n.*1015C>A)
c.746C>A (p.Ala249Asp)
c.*1607C>A (n.*1607C>A)
 gnomAD v4
19g.18868971C>ACA404862453CERS1,GDF1c.*1014G>T (n.*1014G>T)
c.745G>T (p.Ala249Ser)
c.*1606G>T (n.*1606G>T)
 gnomAD v4
19g.18868971C>GCA404862455CERS1,GDF1c.*1014G>C (n.*1014G>C)
c.745G>C (p.Ala249Pro)
c.*1606G>C (n.*1606G>C)
19g.18868971C>TCA404862454CERS1,GDF1c.*1014G>A (n.*1014G>A)
c.745G>A (p.Ala249Thr)
c.*1606G>A (n.*1606G>A)
 gnomAD v4
19g.18868972C>ACA506118523CERS1,GDF1c.*1013G>T (n.*1013G>T)
c.744G>T (p.Leu248=)
c.*1605G>T (n.*1605G>T)
 gnomAD v4
19g.18868972C>GCA506118526CERS1,GDF1c.*1013G>C (n.*1013G>C)
c.744G>C (p.Leu248=)
c.*1605G>C (n.*1605G>C)
19g.18868972C>TCA506118524CERS1,GDF1c.*1013G>A (n.*1013G>A)
c.744G>A (p.Leu248=)
c.*1605G>A (n.*1605G>A)
 gnomAD v4
19g.18868973delCA2576726648CERS1,GDF1c.*1012del (n.*1012del)
c.743del (p.Leu248ArgfsTer27)
c.*1604del (n.*1604del)
19g.18868973A>CCA404862456CERS1,GDF1c.*1012T>G (n.*1012T>G)
c.743T>G (p.Leu248Arg)
c.*1604T>G (n.*1604T>G)
19g.18868973A>GCA404862457CERS1,GDF1c.*1012T>C (n.*1012T>C)
c.743T>C (p.Leu248Pro)
c.*1604T>C (n.*1604T>C)
 gnomAD v4
19g.18868973A>TCA404862458CERS1,GDF1c.*1012T>A (n.*1012T>A)
c.743T>A (p.Leu248Gln)
c.*1604T>A (n.*1604T>A)
19g.18868973_18868974delinsAGCA2326567649CERS1,GDF1c.*1011_*1012delinsCT (n.*1011_*1012delinsCT)
c.742_743delinsCT (p.Leu248=)
c.*1603_*1604delinsCT (n.*1603_*1604delinsCT)
19g.18868974G>ACA506118529CERS1,GDF1c.*1011C>T (n.*1011C>T)
c.742C>T (p.Leu248=)
c.*1603C>T (n.*1603C>T)
 gnomAD v4
19g.18868974G>CCA404862459CERS1,GDF1c.*1011C>G (n.*1011C>G)
c.742C>G (p.Leu248Val)
c.*1603C>G (n.*1603C>G)
 dbSNP gnomAD v4
19g.18868974G>TCA404862460CERS1,GDF1c.*1011C>A (n.*1011C>A)
c.742C>A (p.Leu248Met)
c.*1603C>A (n.*1603C>A)
 gnomAD v4
19g.18868978dupCA632627050CERS1,GDF1c.*1011dup (n.*1011dup)
c.742dup (p.Leu248ProfsTer?)
c.*1603dup (n.*1603dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868978delCA306231690CERS1,GDF1c.*1011del (n.*1011del)
c.742del (p.Leu248TrpfsTer27)
c.*1603del (n.*1603del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868975G>ACA506118530CERS1,GDF1c.*1010C>T (n.*1010C>T)
c.741C>T (p.Pro247=)
c.*1602C>T (n.*1602C>T)
 ClinVar dbSNP gnomAD v4
19g.18868975G>CCA506118531CERS1,GDF1c.*1010C>G (n.*1010C>G)
c.741C>G (p.Pro247=)
c.*1602C>G (n.*1602C>G)
19g.18868975G=CA2326567650CERS1,GDF1c.*1010C= (n.*1010C=)
c.741C= (p.Pro247=)
c.*1602C= (n.*1602C=)
19g.18868975G>TCA506118533CERS1,GDF1c.*1010C>A (n.*1010C>A)
c.741C>A (p.Pro247=)
c.*1602C>A (n.*1602C>A)
 gnomAD v4
19g.18868976G>ACA404862461CERS1,GDF1c.*1009C>T (n.*1009C>T)
c.740C>T (p.Pro247Leu)
c.*1601C>T (n.*1601C>T)
 dbSNP gnomAD v4
19g.18868976G>CCA404862462CERS1,GDF1c.*1009C>G (n.*1009C>G)
c.740C>G (p.Pro247Arg)
c.*1601C>G (n.*1601C>G)
19g.18868976G=CA2326567651CERS1,GDF1c.*1009C= (n.*1009C=)
c.740C= (p.Pro247=)
c.*1601C= (n.*1601C=)
19g.18868976G>TCA404862463CERS1,GDF1c.*1009C>A (n.*1009C>A)
c.740C>A (p.Pro247His)
c.*1601C>A (n.*1601C>A)
 dbSNP gnomAD v4
19g.18868977G>ACA404862464CERS1,GDF1c.*1008C>T (n.*1008C>T)
c.739C>T (p.Pro247Ser)
c.*1600C>T (n.*1600C>T)
 gnomAD v4
19g.18868977G>CCA404862465CERS1,GDF1c.*1008C>G (n.*1008C>G)
c.739C>G (p.Pro247Ala)
c.*1600C>G (n.*1600C>G)
19g.18868977G>TCA404862466CERS1,GDF1c.*1008C>A (n.*1008C>A)
c.739C>A (p.Pro247Thr)
c.*1600C>A (n.*1600C>A)
 gnomAD v4
19g.18868978G>ACA506118536CERS1,GDF1c.*1007C>T (n.*1007C>T)
c.738C>T (p.His246=)
c.*1599C>T (n.*1599C>T)
 ClinVar dbSNP gnomAD v4
19g.18868978G>CCA404862467CERS1,GDF1c.*1007C>G (n.*1007C>G)
c.738C>G (p.His246Gln)
c.*1599C>G (n.*1599C>G)
19g.18868978G=CA2326567652CERS1,GDF1c.*1007C= (n.*1007C=)
c.738C= (p.His246=)
c.*1599C= (n.*1599C=)
19g.18868978G>TCA404862468CERS1,GDF1c.*1007C>A (n.*1007C>A)
c.738C>A (p.His246Gln)
c.*1599C>A (n.*1599C>A)
 gnomAD v4
19g.18868979delCA2813841590CERS1,GDF1c.*1006del (n.*1006del)
c.737del (p.His246ProfsTer29)
c.*1598del (n.*1598del)
19g.18868979T>ACA404862469CERS1,GDF1c.*1006A>T (n.*1006A>T)
c.737A>T (p.His246Leu)
c.*1598A>T (n.*1598A>T)
19g.18868979T>CCA404862470CERS1,GDF1c.*1006A>G (n.*1006A>G)
c.737A>G (p.His246Arg)
c.*1598A>G (n.*1598A>G)
 gnomAD v4
19g.18868979T>GCA404862471CERS1,GDF1c.*1006A>C (n.*1006A>C)
c.737A>C (p.His246Pro)
c.*1598A>C (n.*1598A>C)
 dbSNP
19g.18868980G>ACA404862472CERS1,GDF1c.*1005C>T (n.*1005C>T)
c.736C>T (p.His246Tyr)
c.*1597C>T (n.*1597C>T)
 gnomAD v4
19g.18868980G>CCA404862473CERS1,GDF1c.*1005C>G (n.*1005C>G)
c.736C>G (p.His246Asp)
c.*1597C>G (n.*1597C>G)
19g.18868980G>TCA404862474CERS1,GDF1c.*1005C>A (n.*1005C>A)
c.736C>A (p.His246Asn)
c.*1597C>A (n.*1597C>A)
 gnomAD v4
19g.18868981G>ACA506118542CERS1,GDF1c.*1004C>T (n.*1004C>T)
c.735C>T (p.Cys245=)
c.*1596C>T (n.*1596C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868981G>CCA404862476CERS1,GDF1c.*1004C>G (n.*1004C>G)
c.735C>G (p.Cys245Trp)
c.*1596C>G (n.*1596C>G)
19g.18868981G=CA2326567653CERS1,GDF1c.*1004C= (n.*1004C=)
c.735C= (p.Cys245=)
c.*1596C= (n.*1596C=)
19g.18868981G>TCA404862475CERS1,GDF1c.*1004C>A (n.*1004C>A)
c.735C>A (p.Cys245Ter)
c.*1596C>A (n.*1596C>A)
 gnomAD v4
19g.18868982C>ACA404862477CERS1,GDF1c.*1003G>T (n.*1003G>T)
c.734G>T (p.Cys245Phe)
c.*1595G>T (n.*1595G>T)
 gnomAD v4
19g.18868982C=CA2326567654CERS1,GDF1c.*1003G= (n.*1003G=)
c.734G= (p.Cys245=)
c.*1595G= (n.*1595G=)
19g.18868982C>GCA404862478CERS1,GDF1c.*1003G>C (n.*1003G>C)
c.734G>C (p.Cys245Ser)
c.*1595G>C (n.*1595G>C)
19g.18868982C>TCA404862479CERS1,GDF1c.*1003G>A (n.*1003G>A)
c.734G>A (p.Cys245Tyr)
c.*1595G>A (n.*1595G>A)
 dbSNP gnomAD v4
19g.18868983A=CA2326567655CERS1,GDF1c.*1002T= (n.*1002T=)
c.733T= (p.Cys245=)
c.*1594T= (n.*1594T=)
19g.18868983A>CCA404862480CERS1,GDF1c.*1002T>G (n.*1002T>G)
c.733T>G (p.Cys245Gly)
c.*1594T>G (n.*1594T>G)
19g.18868983A>GCA404862481CERS1,GDF1c.*1002T>C (n.*1002T>C)
c.733T>C (p.Cys245Arg)
c.*1594T>C (n.*1594T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18868983A>TCA404862482CERS1,GDF1c.*1002T>A (n.*1002T>A)
c.733T>A (p.Cys245Ser)
c.*1594T>A (n.*1594T>A)
19g.18868984C>ACA506118545CERS1,GDF1c.*1001G>T (n.*1001G>T)
c.732G>T (p.Leu244=)
c.*1593G>T (n.*1593G>T)
 gnomAD v4
19g.18868984C>GCA506118547CERS1,GDF1c.*1001G>C (n.*1001G>C)
c.732G>C (p.Leu244=)
c.*1593G>C (n.*1593G>C)
 gnomAD v4
19g.18868984C>TCA506118549CERS1,GDF1c.*1001G>A (n.*1001G>A)
c.732G>A (p.Leu244=)
c.*1593G>A (n.*1593G>A)
 gnomAD v4
19g.18868985A>CCA404862483CERS1,GDF1c.*1000T>G (n.*1000T>G)
c.731T>G (p.Leu244Arg)
c.*1592T>G (n.*1592T>G)
 gnomAD v4
19g.18868985A>GCA404862485CERS1,GDF1c.*1000T>C (n.*1000T>C)
c.731T>C (p.Leu244Pro)
c.*1592T>C (n.*1592T>C)
 gnomAD v4
19g.18868985A>TCA404862484CERS1,GDF1c.*1000T>A (n.*1000T>A)
c.731T>A (p.Leu244Gln)
c.*1592T>A (n.*1592T>A)
 gnomAD v4
19g.18868986G>ACA506118555CERS1,GDF1c.*999C>T (n.*999C>T)
c.730C>T (p.Leu244=)
c.*1591C>T (n.*1591C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868986G>CCA404862486CERS1,GDF1c.*999C>G (n.*999C>G)
c.730C>G (p.Leu244Val)
c.*1591C>G (n.*1591C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868986G=CA2326567656CERS1,GDF1c.*999C= (n.*999C=)
c.730C= (p.Leu244=)
c.*1591C= (n.*1591C=)
19g.18868986G>TCA404862487CERS1,GDF1c.*999C>A (n.*999C>A)
c.730C>A (p.Leu244Met)
c.*1591C>A (n.*1591C>A)
 gnomAD v4
19g.18868987delCA2576726649CERS1,GDF1c.*999del (n.*999del)
c.730del (p.Leu244CysfsTer?)
c.*1591del (n.*1591del)
19g.18868987G>ACA506118559CERS1,GDF1c.*998C>T (n.*998C>T)
c.729C>T (p.Arg243=)
c.*1590C>T (n.*1590C>T)
 gnomAD v4
19g.18868987G>CCA506118558CERS1,GDF1c.*998C>G (n.*998C>G)
c.729C>G (p.Arg243=)
c.*1590C>G (n.*1590C>G)
19g.18868987G>TCA506118560CERS1,GDF1c.*998C>A (n.*998C>A)
c.729C>A (p.Arg243=)
c.*1590C>A (n.*1590C>A)
 gnomAD v4
19g.18868988delCA2583634740CERS1,GDF1c.*997del (n.*997del)
c.728del (p.Arg243ProfsTer?)
c.*1589del (n.*1589del)
 gnomAD v4
19g.18868988C>ACA404862488CERS1,GDF1c.*997G>T (n.*997G>T)
c.728G>T (p.Arg243Leu)
c.*1589G>T (n.*1589G>T)
 gnomAD v4
19g.18868988C>GCA404862489CERS1,GDF1c.*997G>C (n.*997G>C)
c.728G>C (p.Arg243Pro)
c.*1589G>C (n.*1589G>C)
 gnomAD v4
19g.18868988C>TCA404862490CERS1,GDF1c.*997G>A (n.*997G>A)
c.728G>A (p.Arg243His)
c.*1589G>A (n.*1589G>A)
 gnomAD v4
19g.18868989G>ACA404862491CERS1,GDF1c.*996C>T (n.*996C>T)
c.727C>T (p.Arg243Cys)
c.*1588C>T (n.*1588C>T)
 gnomAD v4
19g.18868989G>CCA404862492CERS1,GDF1c.*996C>G (n.*996C>G)
c.727C>G (p.Arg243Gly)
c.*1588C>G (n.*1588C>G)
19g.18868989G>TCA404862493CERS1,GDF1c.*996C>A (n.*996C>A)
c.727C>A (p.Arg243Ser)
c.*1588C>A (n.*1588C>A)
 gnomAD v4
19g.18868990C>ACA506118562CERS1,GDF1c.*995G>T (n.*995G>T)
c.726G>T (p.Pro242=)
c.*1587G>T (n.*1587G>T)
 gnomAD v4
19g.18868990C=CA2326567657CERS1,GDF1c.*995G= (n.*995G=)
c.726G= (p.Pro242=)
c.*1587G= (n.*1587G=)
19g.18868990C>GCA506118563CERS1,GDF1c.*995G>C (n.*995G>C)
c.726G>C (p.Pro242=)
c.*1587G>C (n.*1587G>C)
19g.18868990C>TCA306231695CERS1,GDF1c.*995G>A (n.*995G>A)
c.726G>A (p.Pro242=)
c.*1587G>A (n.*1587G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18868991G>ACA404862494CERS1,GDF1c.*994C>T (n.*994C>T)
c.725C>T (p.Pro242Leu)
c.*1586C>T (n.*1586C>T)
 gnomAD v4
19g.18868991G>CCA404862495CERS1,GDF1c.*994C>G (n.*994C>G)
c.725C>G (p.Pro242Arg)
c.*1586C>G (n.*1586C>G)
19g.18868991G>TCA404862496CERS1,GDF1c.*994C>A (n.*994C>A)
c.725C>A (p.Pro242Gln)
c.*1586C>A (n.*1586C>A)
 gnomAD v4
19g.18868992G>ACA404862499CERS1,GDF1c.*993C>T (n.*993C>T)
c.724C>T (p.Pro242Ser)
c.*1585C>T (n.*1585C>T)
 gnomAD v4
19g.18868992G>CCA404862497CERS1,GDF1c.*993C>G (n.*993C>G)
c.724C>G (p.Pro242Ala)
c.*1585C>G (n.*1585C>G)
19g.18868992G>TCA404862498CERS1,GDF1c.*993C>A (n.*993C>A)
c.724C>A (p.Pro242Thr)
c.*1585C>A (n.*1585C>A)
 gnomAD v4
19g.18868993G>ACA506118566CERS1,GDF1c.*992C>T (n.*992C>T)
c.723C>T (p.Asp241=)
c.*1584C>T (n.*1584C>T)
 gnomAD v4
19g.18868993G>CCA404862500CERS1,GDF1c.*992C>G (n.*992C>G)
c.723C>G (p.Asp241Glu)
c.*1584C>G (n.*1584C>G)
19g.18868993G>TCA404862501CERS1,GDF1c.*992C>A (n.*992C>A)
c.723C>A (p.Asp241Glu)
c.*1584C>A (n.*1584C>A)
 gnomAD v4
19g.18868994T>ACA404862502CERS1,GDF1c.*991A>T (n.*991A>T)
c.722A>T (p.Asp241Val)
c.*1583A>T (n.*1583A>T)
19g.18868994T>CCA404862503CERS1,GDF1c.*991A>G (n.*991A>G)
c.722A>G (p.Asp241Gly)
c.*1583A>G (n.*1583A>G)
 gnomAD v4
19g.18868994T>GCA404862504CERS1,GDF1c.*991A>C (n.*991A>C)
c.722A>C (p.Asp241Ala)
c.*1583A>C (n.*1583A>C)
19g.18868995C>ACA404862505CERS1,GDF1c.*990G>T (n.*990G>T)
c.721G>T (p.Asp241Tyr)
c.*1582G>T (n.*1582G>T)
 gnomAD v4
19g.18868995C=CA2326567658CERS1,GDF1c.*990G= (n.*990G=)
c.721G= (p.Asp241=)
c.*1582G= (n.*1582G=)
19g.18868995C>GCA404862506CERS1,GDF1c.*990G>C (n.*990G>C)
c.721G>C (p.Asp241His)
c.*1582G>C (n.*1582G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18868995C>TCA404862507CERS1,GDF1c.*990G>A (n.*990G>A)
c.721G>A (p.Asp241Asn)
c.*1582G>A (n.*1582G>A)
 gnomAD v4
19g.18868996G>ACA506118570CERS1,GDF1c.*989C>T (n.*989C>T)
c.720C>T (p.Leu240=)
c.*1581C>T (n.*1581C>T)
 gnomAD v4
19g.18868996G>CCA506118571CERS1,GDF1c.*989C>G (n.*989C>G)
c.720C>G (p.Leu240=)
c.*1581C>G (n.*1581C>G)
19g.18868996G>TCA506118572CERS1,GDF1c.*989C>A (n.*989C>A)
c.720C>A (p.Leu240=)
c.*1581C>A (n.*1581C>A)
 gnomAD v4
19g.18868997A>CCA404862508CERS1,GDF1c.*988T>G (n.*988T>G)
c.719T>G (p.Leu240Arg)
c.*1580T>G (n.*1580T>G)
19g.18868997A>GCA404862509CERS1,GDF1c.*988T>C (n.*988T>C)
c.719T>C (p.Leu240Pro)
c.*1580T>C (n.*1580T>C)
 gnomAD v4
19g.18868997A>TCA404862510CERS1,GDF1c.*988T>A (n.*988T>A)
c.719T>A (p.Leu240His)
c.*1580T>A (n.*1580T>A)
 gnomAD v4
19g.18868998G>ACA404862511CERS1,GDF1c.*987C>T (n.*987C>T)
c.718C>T (p.Leu240Phe)
c.*1579C>T (n.*1579C>T)
 gnomAD v4
19g.18868998G>CCA404862512CERS1,GDF1c.*987C>G (n.*987C>G)
c.718C>G (p.Leu240Val)
c.*1579C>G (n.*1579C>G)
 gnomAD v4
19g.18868998G=CA2326567659CERS1,GDF1c.*987C= (n.*987C=)
c.718C= (p.Leu240=)
c.*1579C= (n.*1579C=)
19g.18868998G>TCA404862513CERS1,GDF1c.*987C>A (n.*987C>A)
c.718C>A (p.Leu240Ile)
c.*1579C>A (n.*1579C>A)
 gnomAD v4
19g.18868999G>ACA506118575CERS1,GDF1c.*986C>T (n.*986C>T)
c.717C>T (p.Thr239=)
c.*1578C>T (n.*1578C>T)
 gnomAD v4
19g.18868999G>CCA506118576CERS1,GDF1c.*986C>G (n.*986C>G)
c.717C>G (p.Thr239=)
c.*1578C>G (n.*1578C>G)
19g.18868999G>TCA506118577CERS1,GDF1c.*986C>A (n.*986C>A)
c.717C>A (p.Thr239=)
c.*1578C>A (n.*1578C>A)
 gnomAD v4
19g.18869000_18869010dupCA994235647CERS1,GDF1c.*976_*986dup (n.*976_*986dup)
c.707_717dup (p.Leu240CysfsTer3)
c.*1568_*1578dup (n.*1568_*1578dup)
 dbSNP gnomAD v3 gnomAD v4
19g.18869000G>ACA404862516CERS1,GDF1c.*985C>T (n.*985C>T)
c.716C>T (p.Thr239Ile)
c.*1577C>T (n.*1577C>T)
 gnomAD v4
19g.18869000G>CCA404862515CERS1,GDF1c.*985C>G (n.*985C>G)
c.716C>G (p.Thr239Ser)
c.*1577C>G (n.*1577C>G)
19g.18869000G>TCA404862514CERS1,GDF1c.*985C>A (n.*985C>A)
c.716C>A (p.Thr239Asn)
c.*1577C>A (n.*1577C>A)
 gnomAD v4
19g.18869001T>ACA404862517CERS1,GDF1c.*984A>T (n.*984A>T)
c.715A>T (p.Thr239Ser)
c.*1576A>T (n.*1576A>T)
19g.18869001T>CCA404862518CERS1,GDF1c.*984A>G (n.*984A>G)
c.715A>G (p.Thr239Ala)
c.*1576A>G (n.*1576A>G)
 gnomAD v4
19g.18869001T>GCA404862519CERS1,GDF1c.*984A>C (n.*984A>C)
c.715A>C (p.Thr239Pro)
c.*1576A>C (n.*1576A>C)
19g.18869002C>ACA506118583CERS1,GDF1c.*983G>T (n.*983G>T)
c.714G>T (p.Val238=)
c.*1575G>T (n.*1575G>T)
 gnomAD v4
19g.18869002C>GCA506118581CERS1,GDF1c.*983G>C (n.*983G>C)
c.714G>C (p.Val238=)
c.*1575G>C (n.*1575G>C)
19g.18869002C>TCA506118579CERS1,GDF1c.*983G>A (n.*983G>A)
c.714G>A (p.Val238=)
c.*1575G>A (n.*1575G>A)
19g.18869003A>CCA404862520CERS1,GDF1c.*982T>G (n.*982T>G)
c.713T>G (p.Val238Gly)
c.*1574T>G (n.*1574T>G)
19g.18869003A>GCA404862521CERS1,GDF1c.*982T>C (n.*982T>C)
c.713T>C (p.Val238Ala)
c.*1574T>C (n.*1574T>C)
 gnomAD v4
19g.18869003A>TCA404862522CERS1,GDF1c.*982T>A (n.*982T>A)
c.713T>A (p.Val238Glu)
c.*1574T>A (n.*1574T>A)
19g.18869004C>ACA404862523CERS1,GDF1c.*981G>T (n.*981G>T)
c.712G>T (p.Val238Leu)
c.*1573G>T (n.*1573G>T)
 gnomAD v4
19g.18869004C>GCA404862524CERS1,GDF1c.*981G>C (n.*981G>C)
c.712G>C (p.Val238Leu)
c.*1573G>C (n.*1573G>C)
19g.18869004C>TCA404862525CERS1,GDF1c.*981G>A (n.*981G>A)
c.712G>A (p.Val238Met)
c.*1573G>A (n.*1573G>A)
19g.18869005delCA2583634741CERS1,GDF1c.*981del (n.*981del)
c.712del (p.Val238Ter)
c.*1573del (n.*1573del)
 gnomAD v4
19g.18869005_18869043delCA2582001794CERS1,GDF1c.*943_*981del (n.*943_*981del)
c.674_712del (p.Ala225_Leu237del)
c.*1535_*1573del (n.*1535_*1573del)
 dbSNP gnomAD v3 gnomAD v4
19g.18869005C>ACA506118587CERS1,GDF1c.*980G>T (n.*980G>T)
c.711G>T (p.Leu237=)
c.*1572G>T (n.*1572G>T)
 gnomAD v4
19g.18869005C=CA2326567660CERS1,GDF1c.*980G= (n.*980G=)
c.711G= (p.Leu237=)
c.*1572G= (n.*1572G=)
19g.18869005C>GCA506118589CERS1,GDF1c.*980G>C (n.*980G>C)
c.711G>C (p.Leu237=)
c.*1572G>C (n.*1572G>C)
19g.18869005C>TCA306231697CERS1,GDF1c.*980G>A (n.*980G>A)
c.711G>A (p.Leu237=)
c.*1572G>A (n.*1572G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869012_18869014delCA994235673CERS1,GDF1c.*978_*980del (n.*978_*980del)
c.709_711del (p.Leu237del)
c.*1570_*1572del (n.*1570_*1572del)
 gnomAD v3 gnomAD v4
19g.18869006A>CCA404862526CERS1,GDF1c.*979T>G (n.*979T>G)
c.710T>G (p.Leu237Arg)
c.*1571T>G (n.*1571T>G)
 gnomAD v4
19g.18869006A>GCA404862527CERS1,GDF1c.*979T>C (n.*979T>C)
c.710T>C (p.Leu237Pro)
c.*1571T>C (n.*1571T>C)
 gnomAD v4
19g.18869006A>TCA404862528CERS1,GDF1c.*979T>A (n.*979T>A)
c.710T>A (p.Leu237Gln)
c.*1571T>A (n.*1571T>A)
 gnomAD v4
19g.18869007G>ACA506118591CERS1,GDF1c.*978C>T (n.*978C>T)
c.709C>T (p.Leu237=)
c.*1570C>T (n.*1570C>T)
 gnomAD v4
19g.18869007G>CCA404862530CERS1,GDF1c.*978C>G (n.*978C>G)
c.709C>G (p.Leu237Val)
c.*1570C>G (n.*1570C>G)
 gnomAD v4
19g.18869007G>TCA404862529CERS1,GDF1c.*978C>A (n.*978C>A)
c.709C>A (p.Leu237Met)
c.*1570C>A (n.*1570C>A)
 gnomAD v4
19g.18869008C>ACA506118594CERS1,GDF1c.*977G>T (n.*977G>T)
c.708G>T (p.Leu236=)
c.*1569G>T (n.*1569G>T)
 gnomAD v3 gnomAD v4
19g.18869008C>GCA506118595CERS1,GDF1c.*977G>C (n.*977G>C)
c.708G>C (p.Leu236=)
c.*1569G>C (n.*1569G>C)
 gnomAD v4
19g.18869008C>TCA506118600CERS1,GDF1c.*977G>A (n.*977G>A)
c.708G>A (p.Leu236=)
c.*1569G>A (n.*1569G>A)
 gnomAD v4
19g.18869009A>CCA404862531CERS1,GDF1c.*976T>G (n.*976T>G)
c.707T>G (p.Leu236Arg)
c.*1568T>G (n.*1568T>G)
19g.18869009A>GCA404862532CERS1,GDF1c.*976T>C (n.*976T>C)
c.707T>C (p.Leu236Pro)
c.*1568T>C (n.*1568T>C)
 gnomAD v4
19g.18869009A>TCA404862533CERS1,GDF1c.*976T>A (n.*976T>A)
c.707T>A (p.Leu236Gln)
c.*1568T>A (n.*1568T>A)
19g.18869010G>ACA506118605CERS1,GDF1c.*975C>T (n.*975C>T)
c.706C>T (p.Leu236=)
c.*1567C>T (n.*1567C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869010G>CCA404862534CERS1,GDF1c.*975C>G (n.*975C>G)
c.706C>G (p.Leu236Val)
c.*1567C>G (n.*1567C>G)
19g.18869010G=CA2326567661CERS1,GDF1c.*975C= (n.*975C=)
c.706C= (p.Leu236=)
c.*1567C= (n.*1567C=)
19g.18869010G>TCA404862535CERS1,GDF1c.*975C>A (n.*975C>A)
c.706C>A (p.Leu236Met)
c.*1567C>A (n.*1567C>A)
 gnomAD v4
19g.18869011C>ACA506118607CERS1,GDF1c.*974G>T (n.*974G>T)
c.705G>T (p.Leu235=)
c.*1566G>T (n.*1566G>T)
 gnomAD v3 gnomAD v4
19g.18869011C=CA2326567662CERS1,GDF1c.*974G= (n.*974G=)
c.705G= (p.Leu235=)
c.*1566G= (n.*1566G=)
19g.18869011C>GCA506118609CERS1,GDF1c.*974G>C (n.*974G>C)
c.705G>C (p.Leu235=)
c.*1566G>C (n.*1566G>C)
19g.18869011C>TCA506118610CERS1,GDF1c.*974G>A (n.*974G>A)
c.705G>A (p.Leu235=)
c.*1566G>A (n.*1566G>A)
 gnomAD v4
19g.18869012A>CCA404862536CERS1,GDF1c.*973T>G (n.*973T>G)
c.704T>G (p.Leu235Arg)
c.*1565T>G (n.*1565T>G)
19g.18869012A>GCA404862537CERS1,GDF1c.*973T>C (n.*973T>C)
c.704T>C (p.Leu235Pro)
c.*1565T>C (n.*1565T>C)
 gnomAD v4
19g.18869012A>TCA404862538CERS1,GDF1c.*973T>A (n.*973T>A)
c.704T>A (p.Leu235Gln)
c.*1565T>A (n.*1565T>A)
19g.18869012_18869013delCA2583634742CERS1,GDF1c.*972_*973del (n.*972_*973del)
c.703_704del (p.Leu235AlafsTer?)
c.*1564_*1565del (n.*1564_*1565del)
 gnomAD v4
19g.18869014_18869017dupCA783968700CERS1,GDF1c.*970_*973dup (n.*970_*973dup)
c.701_704dup (p.Leu236AlafsTer?)
c.*1562_*1565dup (n.*1562_*1565dup)
 dbSNP gnomAD v3 gnomAD v4
19g.18869013G>ACA506118611CERS1,GDF1c.*972C>T (n.*972C>T)
c.703C>T (p.Leu235=)
c.*1564C>T (n.*1564C>T)
 dbSNP gnomAD v4
19g.18869013G>CCA404862539CERS1,GDF1c.*972C>G (n.*972C>G)
c.703C>G (p.Leu235Val)
c.*1564C>G (n.*1564C>G)
 gnomAD v4
19g.18869013G=CA2326567663CERS1,GDF1c.*972C= (n.*972C=)
c.703C= (p.Leu235=)
c.*1564C= (n.*1564C=)
19g.18869013G>TCA404862540CERS1,GDF1c.*972C>A (n.*972C>A)
c.703C>A (p.Leu235Met)
c.*1564C>A (n.*1564C>A)
 gnomAD v4
19g.18869014C>ACA506118613CERS1,GDF1c.*971G>T (n.*971G>T)
c.702G>T (p.Ser234=)
c.*1563G>T (n.*1563G>T)
 gnomAD v4
19g.18869014C>GCA506118614CERS1,GDF1c.*971G>C (n.*971G>C)
c.702G>C (p.Ser234=)
c.*1563G>C (n.*1563G>C)
19g.18869014C>TCA506118615CERS1,GDF1c.*971G>A (n.*971G>A)
c.702G>A (p.Ser234=)
c.*1563G>A (n.*1563G>A)
 gnomAD v4
19g.18869015G>ACA404862541CERS1,GDF1c.*970C>T (n.*970C>T)
c.701C>T (p.Ser234Leu)
c.*1562C>T (n.*1562C>T)
 gnomAD v4
19g.18869015G>CCA404862542CERS1,GDF1c.*970C>G (n.*970C>G)
c.701C>G (p.Ser234Trp)
c.*1562C>G (n.*1562C>G)
 gnomAD v4
19g.18869015G=CA2326567664CERS1,GDF1c.*970C= (n.*970C=)
c.701C= (p.Ser234=)
c.*1562C= (n.*1562C=)
19g.18869015G>TCA404862543CERS1,GDF1c.*970C>A (n.*970C>A)
c.701C>A (p.Ser234Ter)
c.*1562C>A (n.*1562C>A)
 dbSNP gnomAD v4
19g.18869016A>CCA404862546CERS1,GDF1c.*969T>G (n.*969T>G)
c.700T>G (p.Ser234Ala)
c.*1561T>G (n.*1561T>G)
 gnomAD v3 gnomAD v4
19g.18869016A>GCA404862545CERS1,GDF1c.*969T>C (n.*969T>C)
c.700T>C (p.Ser234Pro)
c.*1561T>C (n.*1561T>C)
 gnomAD v4
19g.18869016A>TCA404862544CERS1,GDF1c.*969T>A (n.*969T>A)
c.700T>A (p.Ser234Thr)
c.*1561T>A (n.*1561T>A)
19g.18869017G>ACA506118623CERS1,GDF1c.*968C>T (n.*968C>T)
c.699C>T (p.Ala233=)
c.*1560C>T (n.*1560C>T)
 gnomAD v4
19g.18869017G>CCA506118626CERS1,GDF1c.*968C>G (n.*968C>G)
c.699C>G (p.Ala233=)
c.*1560C>G (n.*1560C>G)
19g.18869017G>TCA506118628CERS1,GDF1c.*968C>A (n.*968C>A)
c.699C>A (p.Ala233=)
c.*1560C>A (n.*1560C>A)
 gnomAD v4
19g.18869018G>ACA404862547CERS1,GDF1c.*967C>T (n.*967C>T)
c.698C>T (p.Ala233Val)
c.*1559C>T (n.*1559C>T)
 gnomAD v4
19g.18869018G>CCA404862548CERS1,GDF1c.*967C>G (n.*967C>G)
c.698C>G (p.Ala233Gly)
c.*1559C>G (n.*1559C>G)
19g.18869018G>TCA404862549CERS1,GDF1c.*967C>A (n.*967C>A)
c.698C>A (p.Ala233Asp)
c.*1559C>A (n.*1559C>A)
 gnomAD v4
19g.18869019C>ACA404862550CERS1,GDF1c.*966G>T (n.*966G>T)
c.697G>T (p.Ala233Ser)
c.*1558G>T (n.*1558G>T)
 gnomAD v4
19g.18869019C>GCA404862551CERS1,GDF1c.*966G>C (n.*966G>C)
c.697G>C (p.Ala233Pro)
c.*1558G>C (n.*1558G>C)
19g.18869019C>TCA404862552CERS1,GDF1c.*966G>A (n.*966G>A)
c.697G>A (p.Ala233Thr)
c.*1558G>A (n.*1558G>A)
 gnomAD v4

Number of alleles fetched