Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
19g.18869278G>ACA506118808CERS1,GDF1c.*707C>T (n.*707C>T)
c.438C>T (p.Arg146=)
c.*1299C>T (n.*1299C>T)
 gnomAD v4
19g.18869278G>CCA506118809CERS1,GDF1c.*707C>G (n.*707C>G)
c.438C>G (p.Arg146=)
c.*1299C>G (n.*1299C>G)
19g.18869278G>TCA506118811CERS1,GDF1c.*707C>A (n.*707C>A)
c.438C>A (p.Arg146=)
c.*1299C>A (n.*1299C>A)
19g.18869279C>ACA9317929CERS1,GDF1c.*706G>T (n.*706G>T)
c.437G>T (p.Arg146Leu)
c.*1298G>T (n.*1298G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869279C=CA2326567803CERS1,GDF1c.*706G= (n.*706G=)
c.437G= (p.Arg146=)
c.*1298G= (n.*1298G=)
19g.18869279C>GCA404863276CERS1,GDF1c.*706G>C (n.*706G>C)
c.437G>C (p.Arg146Pro)
c.*1298G>C (n.*1298G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869279C>TCA404863277CERS1,GDF1c.*706G>A (n.*706G>A)
c.437G>A (p.Arg146His)
c.*1298G>A (n.*1298G>A)
 ClinVar dbSNP gnomAD v4
19g.18869280G>ACA404863278CERS1,GDF1c.*705C>T (n.*705C>T)
c.436C>T (p.Arg146Cys)
c.*1297C>T (n.*1297C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869280G>CCA404863279CERS1,GDF1c.*705C>G (n.*705C>G)
c.436C>G (p.Arg146Gly)
c.*1297C>G (n.*1297C>G)
19g.18869280G=CA2326567804CERS1,GDF1c.*705C= (n.*705C=)
c.436C= (p.Arg146=)
c.*1297C= (n.*1297C=)
19g.18869280G>TCA404863280CERS1,GDF1c.*705C>A (n.*705C>A)
c.436C>A (p.Arg146Ser)
c.*1297C>A (n.*1297C>A)
19g.18869282delCA2583634797CERS1,GDF1c.*705del (n.*705del)
c.436del (p.Arg146AlafsTer20)
c.*1297del (n.*1297del)
 gnomAD v4
19g.18869281G>ACA506118816CERS1,GDF1c.*704C>T (n.*704C>T)
c.435C>T (p.Ala145=)
c.*1296C>T (n.*1296C>T)
 dbSNP gnomAD v4
19g.18869281G>CCA506118817CERS1,GDF1c.*704C>G (n.*704C>G)
c.435C>G (p.Ala145=)
c.*1296C>G (n.*1296C>G)
19g.18869281G=CA2326567805CERS1,GDF1c.*704C= (n.*704C=)
c.435C= (p.Ala145=)
c.*1296C= (n.*1296C=)
19g.18869281G>TCA506118815CERS1,GDF1c.*704C>A (n.*704C>A)
c.435C>A (p.Ala145=)
c.*1296C>A (n.*1296C>A)
 gnomAD v4
19g.18869282G>ACA404863281CERS1,GDF1c.*703C>T (n.*703C>T)
c.434C>T (p.Ala145Val)
c.*1295C>T (n.*1295C>T)
 gnomAD v4
19g.18869282G>CCA404863282CERS1,GDF1c.*703C>G (n.*703C>G)
c.434C>G (p.Ala145Gly)
c.*1295C>G (n.*1295C>G)
19g.18869282G>TCA404863283CERS1,GDF1c.*703C>A (n.*703C>A)
c.434C>A (p.Ala145Asp)
c.*1295C>A (n.*1295C>A)
 gnomAD v4
19g.18869283C>ACA404863286CERS1,GDF1c.*702G>T (n.*702G>T)
c.433G>T (p.Ala145Ser)
c.*1294G>T (n.*1294G>T)
 dbSNP gnomAD v4
19g.18869283C=CA2326567806CERS1,GDF1c.*702G= (n.*702G=)
c.433G= (p.Ala145=)
c.*1294G= (n.*1294G=)
19g.18869283C>GCA404863285CERS1,GDF1c.*702G>C (n.*702G>C)
c.433G>C (p.Ala145Pro)
c.*1294G>C (n.*1294G>C)
19g.18869283C>TCA404863284CERS1,GDF1c.*702G>A (n.*702G>A)
c.433G>A (p.Ala145Thr)
c.*1294G>A (n.*1294G>A)
 gnomAD v4
19g.18869284C>ACA506118827CERS1,GDF1c.*701G>T (n.*701G>T)
c.432G>T (p.Arg144=)
c.*1293G>T (n.*1293G>T)
19g.18869284C=CA2326567807CERS1,GDF1c.*701G= (n.*701G=)
c.432G= (p.Arg144=)
c.*1293G= (n.*1293G=)
19g.18869284C>GCA506118823CERS1,GDF1c.*701G>C (n.*701G>C)
c.432G>C (p.Arg144=)
c.*1293G>C (n.*1293G>C)
19g.18869284C>TCA506118824CERS1,GDF1c.*701G>A (n.*701G>A)
c.432G>A (p.Arg144=)
c.*1293G>A (n.*1293G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869285C>ACA404863287CERS1,GDF1c.*700G>T (n.*700G>T)
c.431G>T (p.Arg144Leu)
c.*1292G>T (n.*1292G>T)
 dbSNP gnomAD v4
19g.18869285C=CA2326567808CERS1,GDF1c.*700G= (n.*700G=)
c.431G= (p.Arg144=)
c.*1292G= (n.*1292G=)
19g.18869285C>GCA404863288CERS1,GDF1c.*700G>C (n.*700G>C)
c.431G>C (p.Arg144Pro)
c.*1292G>C (n.*1292G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18869285C>TCA9317930CERS1,GDF1c.*700G>A (n.*700G>A)
c.431G>A (p.Arg144Gln)
c.*1292G>A (n.*1292G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869286G>ACA9317931CERS1,GDF1c.*699C>T (n.*699C>T)
c.430C>T (p.Arg144Trp)
c.*1291C>T (n.*1291C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869286G>CCA404863289CERS1,GDF1c.*699C>G (n.*699C>G)
c.430C>G (p.Arg144Gly)
c.*1291C>G (n.*1291C>G)
19g.18869286G=CA2326567809CERS1,GDF1c.*699C= (n.*699C=)
c.430C= (p.Arg144=)
c.*1291C= (n.*1291C=)
19g.18869286G>TCA506118828CERS1,GDF1c.*699C>A (n.*699C>A)
c.430C>A (p.Arg144=)
c.*1291C>A (n.*1291C>A)
 gnomAD v4
19g.18869287G>ACA506118829CERS1,GDF1c.*698C>T (n.*698C>T)
c.429C>T (p.Ser143=)
c.*1290C>T (n.*1290C>T)
 gnomAD v4
19g.18869287G>CCA404863290CERS1,GDF1c.*698C>G (n.*698C>G)
c.429C>G (p.Ser143Arg)
c.*1290C>G (n.*1290C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.18869287G=CA2326567810CERS1,GDF1c.*698C= (n.*698C=)
c.429C= (p.Ser143=)
c.*1290C= (n.*1290C=)
19g.18869287G>TCA404863291CERS1,GDF1c.*698C>A (n.*698C>A)
c.429C>A (p.Ser143Arg)
c.*1290C>A (n.*1290C>A)
 gnomAD v4
19g.18869288C>ACA404863292CERS1,GDF1c.*697G>T (n.*697G>T)
c.428G>T (p.Ser143Ile)
c.*1289G>T (n.*1289G>T)
 gnomAD v4
19g.18869288C=CA2326567811CERS1,GDF1c.*697G= (n.*697G=)
c.428G= (p.Ser143=)
c.*1289G= (n.*1289G=)
19g.18869288C>GCA404863294CERS1,GDF1c.*697G>C (n.*697G>C)
c.428G>C (p.Ser143Thr)
c.*1289G>C (n.*1289G>C)
19g.18869288C>TCA404863293CERS1,GDF1c.*697G>A (n.*697G>A)
c.428G>A (p.Ser143Asn)
c.*1289G>A (n.*1289G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869289T>ACA404863295CERS1,GDF1c.*696A>T (n.*696A>T)
c.427A>T (p.Ser143Cys)
c.*1288A>T (n.*1288A>T)
19g.18869289T>CCA404863296CERS1,GDF1c.*696A>G (n.*696A>G)
c.427A>G (p.Ser143Gly)
c.*1288A>G (n.*1288A>G)
 dbSNP
19g.18869289T>GCA404863297CERS1,GDF1c.*696A>C (n.*696A>C)
c.427A>C (p.Ser143Arg)
c.*1288A>C (n.*1288A>C)
19g.18869289T=CA2326567812CERS1,GDF1c.*696A= (n.*696A=)
c.427A= (p.Ser143=)
c.*1288A= (n.*1288A=)
19g.18869290C>ACA506118834CERS1,GDF1c.*695G>T (n.*695G>T)
c.426G>T (p.Pro142=)
c.*1287G>T (n.*1287G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18869290C=CA2326567813CERS1,GDF1c.*695G= (n.*695G=)
c.426G= (p.Pro142=)
c.*1287G= (n.*1287G=)
19g.18869290C>GCA506118835CERS1,GDF1c.*695G>C (n.*695G>C)
c.426G>C (p.Pro142=)
c.*1287G>C (n.*1287G>C)
19g.18869290C>TCA9317932CERS1,GDF1c.*695G>A (n.*695G>A)
c.426G>A (p.Pro142=)
c.*1287G>A (n.*1287G>A)
 dbSNP ExAC gnomAD v4
19g.18869291G>ACA404863298CERS1,GDF1c.*694C>T (n.*694C>T)
c.425C>T (p.Pro142Leu)
c.*1286C>T (n.*1286C>T)
 gnomAD v4
19g.18869291G>CCA404863300CERS1,GDF1c.*694C>G (n.*694C>G)
c.425C>G (p.Pro142Arg)
c.*1286C>G (n.*1286C>G)
 gnomAD v4
19g.18869291G>TCA404863299CERS1,GDF1c.*694C>A (n.*694C>A)
c.425C>A (p.Pro142Gln)
c.*1286C>A (n.*1286C>A)
 gnomAD v4
19g.18869292G>ACA306231820CERS1,GDF1c.*693C>T (n.*693C>T)
c.424C>T (p.Pro142Ser)
c.*1285C>T (n.*1285C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869292G>CCA404863301CERS1,GDF1c.*693C>G (n.*693C>G)
c.424C>G (p.Pro142Ala)
c.*1285C>G (n.*1285C>G)
19g.18869292G=CA2326567814CERS1,GDF1c.*693C= (n.*693C=)
c.424C= (p.Pro142=)
c.*1285C= (n.*1285C=)
19g.18869292G>TCA404863302CERS1,GDF1c.*693C>A (n.*693C>A)
c.424C>A (p.Pro142Thr)
c.*1285C>A (n.*1285C>A)
19g.18869293G>ACA506118841CERS1,GDF1c.*692C>T (n.*692C>T)
c.423C>T (p.Arg141=)
c.*1284C>T (n.*1284C>T)
 dbSNP gnomAD v4
19g.18869293G>CCA506118842CERS1,GDF1c.*692C>G (n.*692C>G)
c.423C>G (p.Arg141=)
c.*1284C>G (n.*1284C>G)
19g.18869293G=CA2326567815CERS1,GDF1c.*692C= (n.*692C=)
c.423C= (p.Arg141=)
c.*1284C= (n.*1284C=)
19g.18869293G>TCA506118843CERS1,GDF1c.*692C>A (n.*692C>A)
c.423C>A (p.Arg141=)
c.*1284C>A (n.*1284C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869294C>ACA404863303CERS1,GDF1c.*691G>T (n.*691G>T)
c.422G>T (p.Arg141Leu)
c.*1283G>T (n.*1283G>T)
 gnomAD v4
19g.18869294C=CA2326567816CERS1,GDF1c.*691G= (n.*691G=)
c.422G= (p.Arg141=)
c.*1283G= (n.*1283G=)
19g.18869294C>GCA404863304CERS1,GDF1c.*691G>C (n.*691G>C)
c.422G>C (p.Arg141Pro)
c.*1283G>C (n.*1283G>C)
19g.18869294C>TCA404863305CERS1,GDF1c.*691G>A (n.*691G>A)
c.422G>A (p.Arg141His)
c.*1283G>A (n.*1283G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869295G>ACA306231841CERS1,GDF1c.*690C>T (n.*690C>T)
c.421C>T (p.Arg141Cys)
c.*1282C>T (n.*1282C>T)
 dbSNP gnomAD v4
19g.18869295G>CCA404863306CERS1,GDF1c.*690C>G (n.*690C>G)
c.421C>G (p.Arg141Gly)
c.*1282C>G (n.*1282C>G)
 gnomAD v4
19g.18869295G=CA2326567817CERS1,GDF1c.*690C= (n.*690C=)
c.421C= (p.Arg141=)
c.*1282C= (n.*1282C=)
19g.18869295G>TCA404863307CERS1,GDF1c.*690C>A (n.*690C>A)
c.421C>A (p.Arg141Ser)
c.*1282C>A (n.*1282C>A)
 gnomAD v4
19g.18869296C>ACA404863308CERS1,GDF1c.*689G>T (n.*689G>T)
c.420G>T (p.Glu140Asp)
c.*1281G>T (n.*1281G>T)
 gnomAD v4
19g.18869296C=CA2326567818CERS1,GDF1c.*689G= (n.*689G=)
c.420G= (p.Glu140=)
c.*1281G= (n.*1281G=)
19g.18869296C>GCA404863309CERS1,GDF1c.*689G>C (n.*689G>C)
c.420G>C (p.Glu140Asp)
c.*1281G>C (n.*1281G>C)
19g.18869296C>TCA506118847CERS1,GDF1c.*689G>A (n.*689G>A)
c.420G>A (p.Glu140=)
c.*1281G>A (n.*1281G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869297T>ACA404863311CERS1,GDF1c.*688A>T (n.*688A>T)
c.419A>T (p.Glu140Val)
c.*1280A>T (n.*1280A>T)
19g.18869297T>CCA404863312CERS1,GDF1c.*688A>G (n.*688A>G)
c.419A>G (p.Glu140Gly)
c.*1280A>G (n.*1280A>G)
 gnomAD v4
19g.18869297T>GCA404863310CERS1,GDF1c.*688A>C (n.*688A>C)
c.419A>C (p.Glu140Ala)
c.*1280A>C (n.*1280A>C)
19g.18869298C>ACA404863313CERS1,GDF1c.*687G>T (n.*687G>T)
c.418G>T (p.Glu140Ter)
c.*1279G>T (n.*1279G>T)
 dbSNP gnomAD v4
19g.18869298C=CA2326567819CERS1,GDF1c.*687G= (n.*687G=)
c.418G= (p.Glu140=)
c.*1279G= (n.*1279G=)
19g.18869298C>GCA404863315CERS1,GDF1c.*687G>C (n.*687G>C)
c.418G>C (p.Glu140Gln)
c.*1279G>C (n.*1279G>C)
 ClinVar
19g.18869298C>TCA404863314CERS1,GDF1c.*687G>A (n.*687G>A)
c.418G>A (p.Glu140Lys)
c.*1279G>A (n.*1279G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869299A>CCA506118155CERS1,GDF1c.*686T>G (n.*686T>G)
c.417T>G (p.Ala139=)
c.*1278T>G (n.*1278T>G)
19g.18869299A>GCA506118156CERS1,GDF1c.*686T>C (n.*686T>C)
c.417T>C (p.Ala139=)
c.*1278T>C (n.*1278T>C)
 gnomAD v4
19g.18869299A>TCA506118157CERS1,GDF1c.*686T>A (n.*686T>A)
c.417T>A (p.Ala139=)
c.*1278T>A (n.*1278T>A)
 gnomAD v4
19g.18869300G>ACA404863316CERS1,GDF1c.*685C>T (n.*685C>T)
c.416C>T (p.Ala139Val)
c.*1277C>T (n.*1277C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869300G>CCA404863318CERS1,GDF1c.*685C>G (n.*685C>G)
c.416C>G (p.Ala139Gly)
c.*1277C>G (n.*1277C>G)
19g.18869300G=CA2326567820CERS1,GDF1c.*685C= (n.*685C=)
c.416C= (p.Ala139=)
c.*1277C= (n.*1277C=)
19g.18869300G>TCA404863317CERS1,GDF1c.*685C>A (n.*685C>A)
c.416C>A (p.Ala139Asp)
c.*1277C>A (n.*1277C>A)
 gnomAD v4
19g.18869301C>ACA404863319CERS1,GDF1c.*684G>T (n.*684G>T)
c.415G>T (p.Ala139Ser)
c.*1276G>T (n.*1276G>T)
 gnomAD v4
19g.18869301C>GCA404863321CERS1,GDF1c.*684G>C (n.*684G>C)
c.415G>C (p.Ala139Pro)
c.*1276G>C (n.*1276G>C)
19g.18869301C>TCA404863320CERS1,GDF1c.*684G>A (n.*684G>A)
c.415G>A (p.Ala139Thr)
c.*1276G>A (n.*1276G>A)
 gnomAD v4
19g.18869302G>ACA306231848CERS1,GDF1c.*683C>T (n.*683C>T)
c.414C>T (p.Pro138=)
c.*1275C>T (n.*1275C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869302G>CCA506118162CERS1,GDF1c.*683C>G (n.*683C>G)
c.414C>G (p.Pro138=)
c.*1275C>G (n.*1275C>G)
 dbSNP
19g.18869302G=CA2326567821CERS1,GDF1c.*683C= (n.*683C=)
c.414C= (p.Pro138=)
c.*1275C= (n.*1275C=)
19g.18869302G>TCA506118164CERS1,GDF1c.*683C>A (n.*683C>A)
c.414C>A (p.Pro138=)
c.*1275C>A (n.*1275C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869304dupCA2813841594CERS1,GDF1c.*683dup (n.*683dup)
c.414dup (p.Ala139ArgfsTer2)
c.*1275dup (n.*1275dup)
19g.18869303G>ACA404863322CERS1,GDF1c.*682C>T (n.*682C>T)
c.413C>T (p.Pro138Leu)
c.*1274C>T (n.*1274C>T)
 gnomAD v4
19g.18869303G>CCA404863323CERS1,GDF1c.*682C>G (n.*682C>G)
c.413C>G (p.Pro138Arg)
c.*1274C>G (n.*1274C>G)
19g.18869303G>TCA404863324CERS1,GDF1c.*682C>A (n.*682C>A)
c.413C>A (p.Pro138His)
c.*1274C>A (n.*1274C>A)
 gnomAD v4
19g.18869304G>ACA404863325CERS1,GDF1c.*681C>T (n.*681C>T)
c.412C>T (p.Pro138Ser)
c.*1273C>T (n.*1273C>T)
 gnomAD v4
19g.18869304G>CCA404863326CERS1,GDF1c.*681C>G (n.*681C>G)
c.412C>G (p.Pro138Ala)
c.*1273C>G (n.*1273C>G)
19g.18869304G=CA2326567822CERS1,GDF1c.*681C= (n.*681C=)
c.412C= (p.Pro138=)
c.*1273C= (n.*1273C=)
19g.18869304G>TCA9317933CERS1,GDF1c.*681C>A (n.*681C>A)
c.412C>A (p.Pro138Thr)
c.*1273C>A (n.*1273C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869305T>ACA404863327CERS1,GDF1c.*680A>T (n.*680A>T)
c.411A>T (p.Glu137Asp)
c.*1272A>T (n.*1272A>T)
19g.18869305T>CCA506118166CERS1,GDF1c.*680A>G (n.*680A>G)
c.411A>G (p.Glu137=)
c.*1272A>G (n.*1272A>G)
 gnomAD v4
19g.18869305T>GCA306231859CERS1,GDF1c.*680A>C (n.*680A>C)
c.411A>C (p.Glu137Asp)
c.*1272A>C (n.*1272A>C)
 dbSNP
19g.18869305T=CA2326567823CERS1,GDF1c.*680A= (n.*680A=)
c.411A= (p.Glu137=)
c.*1272A= (n.*1272A=)
19g.18869306T>ACA404863328CERS1,GDF1c.*679A>T (n.*679A>T)
c.410A>T (p.Glu137Val)
c.*1271A>T (n.*1271A>T)
19g.18869306T>CCA404863329CERS1,GDF1c.*679A>G (n.*679A>G)
c.410A>G (p.Glu137Gly)
c.*1271A>G (n.*1271A>G)
 dbSNP
19g.18869306T>GCA404863330CERS1,GDF1c.*679A>C (n.*679A>C)
c.410A>C (p.Glu137Ala)
c.*1271A>C (n.*1271A>C)
19g.18869306T=CA2326567824CERS1,GDF1c.*679A= (n.*679A=)
c.410A= (p.Glu137=)
c.*1271A= (n.*1271A=)
19g.18869306_18869307delinsTCCA2326567825CERS1,GDF1c.*678_*679delinsGA (n.*678_*679delinsGA)
c.409_410delinsGA (p.Glu137=)
c.*1270_*1271delinsGA (n.*1270_*1271delinsGA)
19g.18869307C>ACA404863331CERS1,GDF1c.*678G>T (n.*678G>T)
c.409G>T (p.Glu137Ter)
c.*1270G>T (n.*1270G>T)
19g.18869307C=CA2326567827CERS1,GDF1c.*678G= (n.*678G=)
c.409G= (p.Glu137=)
c.*1270G= (n.*1270G=)
19g.18869307C>GCA404863333CERS1,GDF1c.*678G>C (n.*678G>C)
c.409G>C (p.Glu137Gln)
c.*1270G>C (n.*1270G>C)
19g.18869307C>TCA404863332CERS1,GDF1c.*678G>A (n.*678G>A)
c.409G>A (p.Glu137Lys)
c.*1270G>A (n.*1270G>A)
 dbSNP
19g.18869308delCA2326567826CERS1,GDF1c.*678del (n.*678del)
c.409del (p.Glu137AsnfsTer29)
c.*1270del (n.*1270del)
 dbSNP
19g.18869308_18869314delCA2583634798CERS1,GDF1c.*672_*678del (n.*672_*678del)
c.403_409del (p.Ala135AsnfsTer29)
c.*1264_*1270del (n.*1264_*1270del)
 gnomAD v4
19g.18869308C>ACA506118172CERS1,GDF1c.*677G>T (n.*677G>T)
c.408G>T (p.Val136=)
c.*1269G>T (n.*1269G>T)
 gnomAD v4
19g.18869308C=CA2326567828CERS1,GDF1c.*677G= (n.*677G=)
c.408G= (p.Val136=)
c.*1269G= (n.*1269G=)
19g.18869308C>GCA506118173CERS1,GDF1c.*677G>C (n.*677G>C)
c.408G>C (p.Val136=)
c.*1269G>C (n.*1269G>C)
19g.18869308C>TCA506118174CERS1,GDF1c.*677G>A (n.*677G>A)
c.408G>A (p.Val136=)
c.*1269G>A (n.*1269G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869309A=CA2326567829CERS1,GDF1c.*676T= (n.*676T=)
c.407T= (p.Val136=)
c.*1268T= (n.*1268T=)
19g.18869309A>CCA404863334CERS1,GDF1c.*676T>G (n.*676T>G)
c.407T>G (p.Val136Gly)
c.*1268T>G (n.*1268T>G)
19g.18869309A>GCA306231861CERS1,GDF1c.*676T>C (n.*676T>C)
c.407T>C (p.Val136Ala)
c.*1268T>C (n.*1268T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18869309A>TCA404863335CERS1,GDF1c.*676T>A (n.*676T>A)
c.407T>A (p.Val136Glu)
c.*1268T>A (n.*1268T>A)
19g.18869310C>ACA404863336CERS1,GDF1c.*675G>T (n.*675G>T)
c.406G>T (p.Val136Leu)
c.*1267G>T (n.*1267G>T)
 gnomAD v4
19g.18869310C>GCA404863337CERS1,GDF1c.*675G>C (n.*675G>C)
c.406G>C (p.Val136Leu)
c.*1267G>C (n.*1267G>C)
19g.18869310C>TCA404863338CERS1,GDF1c.*675G>A (n.*675G>A)
c.406G>A (p.Val136Met)
c.*1267G>A (n.*1267G>A)
 gnomAD v4
19g.18869311A>CCA506118182CERS1,GDF1c.*674T>G (n.*674T>G)
c.405T>G (p.Ala135=)
c.*1266T>G (n.*1266T>G)
19g.18869311A>GCA506118183CERS1,GDF1c.*674T>C (n.*674T>C)
c.405T>C (p.Ala135=)
c.*1266T>C (n.*1266T>C)
 gnomAD v4
19g.18869311A>TCA506118184CERS1,GDF1c.*674T>A (n.*674T>A)
c.405T>A (p.Ala135=)
c.*1266T>A (n.*1266T>A)
 gnomAD v4
19g.18869312G>ACA16616030CERS1,GDF1c.*673C>T (n.*673C>T)
c.404C>T (p.Ala135Val)
c.*1265C>T (n.*1265C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869312G>CCA404863339CERS1,GDF1c.*673C>G (n.*673C>G)
c.404C>G (p.Ala135Gly)
c.*1265C>G (n.*1265C>G)
 gnomAD v4
19g.18869312G=CA2326567830CERS1,GDF1c.*673C= (n.*673C=)
c.404C= (p.Ala135=)
c.*1265C= (n.*1265C=)
19g.18869312G>TCA404863340CERS1,GDF1c.*673C>A (n.*673C>A)
c.404C>A (p.Ala135Asp)
c.*1265C>A (n.*1265C>A)
19g.18869313C>ACA404863342CERS1,GDF1c.*672G>T (n.*672G>T)
c.403G>T (p.Ala135Ser)
c.*1264G>T (n.*1264G>T)
 gnomAD v4
19g.18869313C=CA2326567831CERS1,GDF1c.*672G= (n.*672G=)
c.403G= (p.Ala135=)
c.*1264G= (n.*1264G=)
19g.18869313C>GCA404863343CERS1,GDF1c.*672G>C (n.*672G>C)
c.403G>C (p.Ala135Pro)
c.*1264G>C (n.*1264G>C)
19g.18869313C>TCA404863341CERS1,GDF1c.*672G>A (n.*672G>A)
c.403G>A (p.Ala135Thr)
c.*1264G>A (n.*1264G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869314C>ACA506118189CERS1,GDF1c.*671G>T (n.*671G>T)
c.402G>T (p.Ser134=)
c.*1263G>T (n.*1263G>T)
19g.18869314C=CA2326567832CERS1,GDF1c.*671G= (n.*671G=)
c.402G= (p.Ser134=)
c.*1263G= (n.*1263G=)
19g.18869314C>GCA506118193CERS1,GDF1c.*671G>C (n.*671G>C)
c.402G>C (p.Ser134=)
c.*1263G>C (n.*1263G>C)
 gnomAD v4
19g.18869314C>TCA506118191CERS1,GDF1c.*671G>A (n.*671G>A)
c.402G>A (p.Ser134=)
c.*1263G>A (n.*1263G>A)
 dbSNP gnomAD v4
19g.18869315G>ACA404863344CERS1,GDF1c.*670C>T (n.*670C>T)
c.401C>T (p.Ser134Leu)
c.*1262C>T (n.*1262C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869315G>CCA16620817CERS1,GDF1c.*670C>G (n.*670C>G)
c.401C>G (p.Ser134Trp)
c.*1262C>G (n.*1262C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18869315G=CA2326567833CERS1,GDF1c.*670C= (n.*670C=)
c.401C= (p.Ser134=)
c.*1262C= (n.*1262C=)
19g.18869315G>TCA404863345CERS1,GDF1c.*670C>A (n.*670C>A)
c.401C>A (p.Ser134Ter)
c.*1262C>A (n.*1262C>A)
 gnomAD v4
19g.18869315dupCA2576726652CERS1,GDF1c.*670dup (n.*670dup)
c.401dup (p.Ala135GlyfsTer6)
c.*1262dup (n.*1262dup)
19g.18869316A>CCA404863346CERS1,GDF1c.*669T>G (n.*669T>G)
c.400T>G (p.Ser134Ala)
c.*1261T>G (n.*1261T>G)
19g.18869316A>GCA404863347CERS1,GDF1c.*669T>C (n.*669T>C)
c.400T>C (p.Ser134Pro)
c.*1261T>C (n.*1261T>C)
 gnomAD v4
19g.18869316A>TCA404863348CERS1,GDF1c.*669T>A (n.*669T>A)
c.400T>A (p.Ser134Thr)
c.*1261T>A (n.*1261T>A)
19g.18869317C>ACA506118201CERS1,GDF1c.*668G>T (n.*668G>T)
c.399G>T (p.Leu133=)
c.*1260G>T (n.*1260G>T)
 gnomAD v4
19g.18869317C=CA2326567834CERS1,GDF1c.*668G= (n.*668G=)
c.399G= (p.Leu133=)
c.*1260G= (n.*1260G=)
19g.18869317C>GCA506118202CERS1,GDF1c.*668G>C (n.*668G>C)
c.399G>C (p.Leu133=)
c.*1260G>C (n.*1260G>C)
19g.18869317C>TCA506118203CERS1,GDF1c.*668G>A (n.*668G>A)
c.399G>A (p.Leu133=)
c.*1260G>A (n.*1260G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869318A=CA2326567835CERS1,GDF1c.*667T= (n.*667T=)
c.398T= (p.Leu133=)
c.*1259T= (n.*1259T=)
19g.18869318A>CCA404863349CERS1,GDF1c.*667T>G (n.*667T>G)
c.398T>G (p.Leu133Arg)
c.*1259T>G (n.*1259T>G)
19g.18869318A>GCA404863351CERS1,GDF1c.*667T>C (n.*667T>C)
c.398T>C (p.Leu133Pro)
c.*1259T>C (n.*1259T>C)
19g.18869318A>TCA404863350CERS1,GDF1c.*667T>A (n.*667T>A)
c.398T>A (p.Leu133Gln)
c.*1259T>A (n.*1259T>A)
 dbSNP
19g.18869319G>ACA506118210CERS1,GDF1c.*666C>T (n.*666C>T)
c.397C>T (p.Leu133=)
c.*1258C>T (n.*1258C>T)
19g.18869319G>CCA404863352CERS1,GDF1c.*666C>G (n.*666C>G)
c.397C>G (p.Leu133Val)
c.*1258C>G (n.*1258C>G)
 gnomAD v4
19g.18869319G>TCA404863353CERS1,GDF1c.*666C>A (n.*666C>A)
c.397C>A (p.Leu133Met)
c.*1258C>A (n.*1258C>A)
 gnomAD v4
19g.18869320G>ACA506118211CERS1,GDF1c.*665C>T (n.*665C>T)
c.396C>T (p.Asp132=)
c.*1257C>T (n.*1257C>T)
 dbSNP gnomAD v4
19g.18869320G>CCA404863354CERS1,GDF1c.*665C>G (n.*665C>G)
c.396C>G (p.Asp132Glu)
c.*1257C>G (n.*1257C>G)
19g.18869320G=CA2326567836CERS1,GDF1c.*665C= (n.*665C=)
c.396C= (p.Asp132=)
c.*1257C= (n.*1257C=)
19g.18869320G>TCA404863355CERS1,GDF1c.*665C>A (n.*665C>A)
c.396C>A (p.Asp132Glu)
c.*1257C>A (n.*1257C>A)
 gnomAD v4
19g.18869321T>ACA404863356CERS1,GDF1c.*664A>T (n.*664A>T)
c.395A>T (p.Asp132Val)
c.*1256A>T (n.*1256A>T)
 gnomAD v4
19g.18869321T>CCA404863358CERS1,GDF1c.*664A>G (n.*664A>G)
c.395A>G (p.Asp132Gly)
c.*1256A>G (n.*1256A>G)
 gnomAD v4
19g.18869321T>GCA404863357CERS1,GDF1c.*664A>C (n.*664A>C)
c.395A>C (p.Asp132Ala)
c.*1256A>C (n.*1256A>C)
 gnomAD v4
19g.18869322C>ACA404863359CERS1,GDF1c.*663G>T (n.*663G>T)
c.394G>T (p.Asp132Tyr)
c.*1255G>T (n.*1255G>T)
 gnomAD v4
19g.18869322C=CA2326567837CERS1,GDF1c.*663G= (n.*663G=)
c.394G= (p.Asp132=)
c.*1255G= (n.*1255G=)
19g.18869322C>GCA404863360CERS1,GDF1c.*663G>C (n.*663G>C)
c.394G>C (p.Asp132His)
c.*1255G>C (n.*1255G>C)
 gnomAD v4
19g.18869322C>TCA404863361CERS1,GDF1c.*663G>A (n.*663G>A)
c.394G>A (p.Asp132Asn)
c.*1255G>A (n.*1255G>A)
 dbSNP gnomAD v4
19g.18869323G>ACA506118221CERS1,GDF1c.*662C>T (n.*662C>T)
c.393C>T (p.Phe131=)
c.*1254C>T (n.*1254C>T)
 dbSNP
19g.18869323G>CCA404863362CERS1,GDF1c.*662C>G (n.*662C>G)
c.393C>G (p.Phe131Leu)
c.*1254C>G (n.*1254C>G)
19g.18869323G=CA2326567838CERS1,GDF1c.*662C= (n.*662C=)
c.393C= (p.Phe131=)
c.*1254C= (n.*1254C=)
19g.18869323G>TCA404863363CERS1,GDF1c.*662C>A (n.*662C>A)
c.393C>A (p.Phe131Leu)
c.*1254C>A (n.*1254C>A)
 dbSNP gnomAD v4
19g.18869324A>CCA404863364CERS1,GDF1c.*661T>G (n.*661T>G)
c.392T>G (p.Phe131Cys)
c.*1253T>G (n.*1253T>G)
19g.18869324A>GCA404863365CERS1,GDF1c.*661T>C (n.*661T>C)
c.392T>C (p.Phe131Ser)
c.*1253T>C (n.*1253T>C)
 gnomAD v4
19g.18869324A>TCA404863366CERS1,GDF1c.*661T>A (n.*661T>A)
c.392T>A (p.Phe131Tyr)
c.*1253T>A (n.*1253T>A)
19g.18869325A>CCA404863367CERS1,GDF1c.*660T>G (n.*660T>G)
c.391T>G (p.Phe131Val)
c.*1252T>G (n.*1252T>G)
19g.18869325A>GCA404863368CERS1,GDF1c.*660T>C (n.*660T>C)
c.391T>C (p.Phe131Leu)
c.*1252T>C (n.*1252T>C)
19g.18869325A>TCA404863369CERS1,GDF1c.*660T>A (n.*660T>A)
c.391T>A (p.Phe131Ile)
c.*1252T>A (n.*1252T>A)
 gnomAD v4
19g.18869326G>ACA506118232CERS1,GDF1c.*659C>T (n.*659C>T)
c.390C>T (p.Val130=)
c.*1251C>T (n.*1251C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869326G>CCA506118234CERS1,GDF1c.*659C>G (n.*659C>G)
c.390C>G (p.Val130=)
c.*1251C>G (n.*1251C>G)
19g.18869326G=CA2326567839CERS1,GDF1c.*659C= (n.*659C=)
c.390C= (p.Val130=)
c.*1251C= (n.*1251C=)
19g.18869326G>TCA506118233CERS1,GDF1c.*659C>A (n.*659C>A)
c.390C>A (p.Val130=)
c.*1251C>A (n.*1251C>A)
 gnomAD v4
19g.18869327A>CCA404863372CERS1,GDF1c.*658T>G (n.*658T>G)
c.389T>G (p.Val130Gly)
c.*1250T>G (n.*1250T>G)
19g.18869327A>GCA404863371CERS1,GDF1c.*658T>C (n.*658T>C)
c.389T>C (p.Val130Ala)
c.*1250T>C (n.*1250T>C)
19g.18869327A>TCA404863370CERS1,GDF1c.*658T>A (n.*658T>A)
c.389T>A (p.Val130Asp)
c.*1250T>A (n.*1250T>A)
19g.18869328C>ACA404863373CERS1,GDF1c.*657G>T (n.*657G>T)
c.388G>T (p.Val130Phe)
c.*1249G>T (n.*1249G>T)
 gnomAD v4
19g.18869328C=CA2326567840CERS1,GDF1c.*657G= (n.*657G=)
c.388G= (p.Val130=)
c.*1249G= (n.*1249G=)
19g.18869328C>GCA404863374CERS1,GDF1c.*657G>C (n.*657G>C)
c.388G>C (p.Val130Leu)
c.*1249G>C (n.*1249G>C)
19g.18869328C>TCA9317934CERS1,GDF1c.*657G>A (n.*657G>A)
c.388G>A (p.Val130Ile)
c.*1249G>A (n.*1249G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869329G>ACA506118242CERS1,GDF1c.*656C>T (n.*656C>T)
c.387C>T (p.Val129=)
c.*1248C>T (n.*1248C>T)
 gnomAD v4
19g.18869329G>CCA506118243CERS1,GDF1c.*656C>G (n.*656C>G)
c.387C>G (p.Val129=)
c.*1248C>G (n.*1248C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869329G=CA2326567841CERS1,GDF1c.*656C= (n.*656C=)
c.387C= (p.Val129=)
c.*1248C= (n.*1248C=)
19g.18869329G>TCA506118245CERS1,GDF1c.*656C>A (n.*656C>A)
c.387C>A (p.Val129=)
c.*1248C>A (n.*1248C>A)
 gnomAD v4
19g.18869330A=CA2326567842CERS1,GDF1c.*655T= (n.*655T=)
c.386T= (p.Val129=)
c.*1247T= (n.*1247T=)
19g.18869330A>CCA404863375CERS1,GDF1c.*655T>G (n.*655T>G)
c.386T>G (p.Val129Gly)
c.*1247T>G (n.*1247T>G)
19g.18869330A>GCA404863376CERS1,GDF1c.*655T>C (n.*655T>C)
c.386T>C (p.Val129Ala)
c.*1247T>C (n.*1247T>C)
 dbSNP
19g.18869330A>TCA404863377CERS1,GDF1c.*655T>A (n.*655T>A)
c.386T>A (p.Val129Asp)
c.*1247T>A (n.*1247T>A)
 gnomAD v4
19g.18869331C>ACA404863380CERS1,GDF1c.*654G>T (n.*654G>T)
c.385G>T (p.Val129Phe)
c.*1246G>T (n.*1246G>T)
 gnomAD v4
19g.18869331C=CA2326567843CERS1,GDF1c.*654G= (n.*654G=)
c.385G= (p.Val129=)
c.*1246G= (n.*1246G=)
19g.18869331C>GCA404863379CERS1,GDF1c.*654G>C (n.*654G>C)
c.385G>C (p.Val129Leu)
c.*1246G>C (n.*1246G>C)
 dbSNP gnomAD v4
19g.18869331C>TCA404863378CERS1,GDF1c.*654G>A (n.*654G>A)
c.385G>A (p.Val129Ile)
c.*1246G>A (n.*1246G>A)
 gnomAD v4
19g.18869332T>ACA506118247CERS1,GDF1c.*653A>T (n.*653A>T)
c.384A>T (p.Thr128=)
c.*1245A>T (n.*1245A>T)
 gnomAD v4
19g.18869332T>CCA506118248CERS1,GDF1c.*653A>G (n.*653A>G)
c.384A>G (p.Thr128=)
c.*1245A>G (n.*1245A>G)
19g.18869332T>GCA506118250CERS1,GDF1c.*653A>C (n.*653A>C)
c.384A>C (p.Thr128=)
c.*1245A>C (n.*1245A>C)
19g.18869333G>ACA404863381CERS1,GDF1c.*652C>T (n.*652C>T)
c.383C>T (p.Thr128Ile)
c.*1244C>T (n.*1244C>T)
 gnomAD v4
19g.18869333G>CCA404863382CERS1,GDF1c.*652C>G (n.*652C>G)
c.383C>G (p.Thr128Arg)
c.*1244C>G (n.*1244C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.18869333G=CA2326567844CERS1,GDF1c.*652C= (n.*652C=)
c.383C= (p.Thr128=)
c.*1244C= (n.*1244C=)
19g.18869333G>TCA404863383CERS1,GDF1c.*652C>A (n.*652C>A)
c.383C>A (p.Thr128Lys)
c.*1244C>A (n.*1244C>A)
 gnomAD v4
19g.18869334T>ACA404863384CERS1,GDF1c.*651A>T (n.*651A>T)
c.382A>T (p.Thr128Ser)
c.*1243A>T (n.*1243A>T)
 gnomAD v4
19g.18869334T>CCA404863385CERS1,GDF1c.*651A>G (n.*651A>G)
c.382A>G (p.Thr128Ala)
c.*1243A>G (n.*1243A>G)
19g.18869334T>GCA9317935CERS1,GDF1c.*651A>C (n.*651A>C)
c.382A>C (p.Thr128Pro)
c.*1243A>C (n.*1243A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869334T=CA2326567845CERS1,GDF1c.*651A= (n.*651A=)
c.382A= (p.Thr128=)
c.*1243A= (n.*1243A=)
19g.18869335C>ACA404863386CERS1,GDF1c.*650G>T (n.*650G>T)
c.381G>T (p.Trp127Cys)
c.*1242G>T (n.*1242G>T)
 gnomAD v4
19g.18869335C>GCA404863388CERS1,GDF1c.*650G>C (n.*650G>C)
c.381G>C (p.Trp127Cys)
c.*1242G>C (n.*1242G>C)
19g.18869335C>TCA404863387CERS1,GDF1c.*650G>A (n.*650G>A)
c.381G>A (p.Trp127Ter)
c.*1242G>A (n.*1242G>A)
 gnomAD v4
19g.18869336delCA2813841595CERS1,GDF1c.*650del (n.*650del)
c.381del (p.Trp127Ter)
c.*1242del (n.*1242del)
19g.18869336C>ACA404863389CERS1,GDF1c.*649G>T (n.*649G>T)
c.380G>T (p.Trp127Leu)
c.*1241G>T (n.*1241G>T)
 gnomAD v4
19g.18869336C=CA2326567846CERS1,GDF1c.*649G= (n.*649G=)
c.380G= (p.Trp127=)
c.*1241G= (n.*1241G=)
19g.18869336C>GCA404863390CERS1,GDF1c.*649G>C (n.*649G>C)
c.380G>C (p.Trp127Ser)
c.*1241G>C (n.*1241G>C)
19g.18869336C>TCA306231865CERS1,GDF1c.*649G>A (n.*649G>A)
c.380G>A (p.Trp127Ter)
c.*1241G>A (n.*1241G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18869337A=CA2326567847CERS1,GDF1c.*648T= (n.*648T=)
c.379T= (p.Trp127=)
c.*1240T= (n.*1240T=)
19g.18869337A>CCA404863391CERS1,GDF1c.*648T>G (n.*648T>G)
c.379T>G (p.Trp127Gly)
c.*1240T>G (n.*1240T>G)
19g.18869337A>GCA404863392CERS1,GDF1c.*648T>C (n.*648T>C)
c.379T>C (p.Trp127Arg)
c.*1240T>C (n.*1240T>C)
 dbSNP gnomAD v4
19g.18869337A>TCA404863393CERS1,GDF1c.*648T>A (n.*648T>A)
c.379T>A (p.Trp127Arg)
c.*1240T>A (n.*1240T>A)
 gnomAD v4
19g.18869338C>ACA404863394CERS1,GDF1c.*647G>T (n.*647G>T)
c.378G>T (p.Glu126Asp)
c.*1239G>T (n.*1239G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18869338C=CA2326567848CERS1,GDF1c.*647G= (n.*647G=)
c.378G= (p.Glu126=)
c.*1239G= (n.*1239G=)
19g.18869338C>GCA404863395CERS1,GDF1c.*647G>C (n.*647G>C)
c.378G>C (p.Glu126Asp)
c.*1239G>C (n.*1239G>C)
19g.18869338C>TCA506118261CERS1,GDF1c.*647G>A (n.*647G>A)
c.378G>A (p.Glu126=)
c.*1239G>A (n.*1239G>A)
 gnomAD v4
19g.18869339T>ACA404863396CERS1,GDF1c.*646A>T (n.*646A>T)
c.377A>T (p.Glu126Val)
c.*1238A>T (n.*1238A>T)
19g.18869339T>CCA404863397CERS1,GDF1c.*646A>G (n.*646A>G)
c.377A>G (p.Glu126Gly)
c.*1238A>G (n.*1238A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18869339T>GCA404863398CERS1,GDF1c.*646A>C (n.*646A>C)
c.377A>C (p.Glu126Ala)
c.*1238A>C (n.*1238A>C)
19g.18869340C>ACA9317936CERS1,GDF1c.*645G>T (n.*645G>T)
c.376G>T (p.Glu126Ter)
c.*1237G>T (n.*1237G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869340C=CA2326567849CERS1,GDF1c.*645G= (n.*645G=)
c.376G= (p.Glu126=)
c.*1237G= (n.*1237G=)
19g.18869340C>GCA404863399CERS1,GDF1c.*645G>C (n.*645G>C)
c.376G>C (p.Glu126Gln)
c.*1237G>C (n.*1237G>C)
19g.18869340C>TCA9317937CERS1,GDF1c.*645G>A (n.*645G>A)
c.376G>A (p.Glu126Lys)
c.*1237G>A (n.*1237G>A)
 dbSNP ExAC gnomAD v4
19g.18869341A>CCA506118270CERS1,GDF1c.*644T>G (n.*644T>G)
c.375T>G (p.Pro125=)
c.*1236T>G (n.*1236T>G)
19g.18869341A>GCA506118271CERS1,GDF1c.*644T>C (n.*644T>C)
c.375T>C (p.Pro125=)
c.*1236T>C (n.*1236T>C)
 gnomAD v4
19g.18869341A>TCA506118272CERS1,GDF1c.*644T>A (n.*644T>A)
c.375T>A (p.Pro125=)
c.*1236T>A (n.*1236T>A)
 gnomAD v4
19g.18869342G>ACA404863400CERS1,GDF1c.*643C>T (n.*643C>T)
c.374C>T (p.Pro125Leu)
c.*1235C>T (n.*1235C>T)
 gnomAD v4
19g.18869342G>CCA404863401CERS1,GDF1c.*643C>G (n.*643C>G)
c.374C>G (p.Pro125Arg)
c.*1235C>G (n.*1235C>G)
 gnomAD v4
19g.18869342G=CA2326567850CERS1,GDF1c.*643C= (n.*643C=)
c.374C= (p.Pro125=)
c.*1235C= (n.*1235C=)
19g.18869342G>TCA404863402CERS1,GDF1c.*643C>A (n.*643C>A)
c.374C>A (p.Pro125His)
c.*1235C>A (n.*1235C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869344delCA2583634799CERS1,GDF1c.*643del (n.*643del)
c.374del (p.Pro125LeufsTer?)
c.*1235del (n.*1235del)
 gnomAD v4
19g.18869342_18869365delinsGGGCAATGCCCCGCGGCCGAGGCACA2326567851CERS1,GDF1c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC)
c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (p.Pro117=)
c.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC)
19g.18869343G>ACA404863403CERS1,GDF1c.*642C>T (n.*642C>T)
c.373C>T (p.Pro125Ser)
c.*1234C>T (n.*1234C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18869343G>CCA404863404CERS1,GDF1c.*642C>G (n.*642C>G)
c.373C>G (p.Pro125Ala)
c.*1234C>G (n.*1234C>G)
19g.18869343G=CA2326567852CERS1,GDF1c.*642C= (n.*642C=)
c.373C= (p.Pro125=)
c.*1234C= (n.*1234C=)
19g.18869343G>TCA404863405CERS1,GDF1c.*642C>A (n.*642C>A)
c.373C>A (p.Pro125Thr)
c.*1234C>A (n.*1234C>A)
 gnomAD v4
19g.18869346_18869368delCA9317938CERS1,GDF1c.*620_*642del (n.*620_*642del)
c.351_373del (p.Ala118Ter)
c.*1212_*1234del (n.*1212_*1234del)
 dbSNP ExAC gnomAD v4
19g.18869344G>ACA9317939CERS1,GDF1c.*641C>T (n.*641C>T)
c.372C>T (p.Cys124=)
c.*1233C>T (n.*1233C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869344G>CCA404863406CERS1,GDF1c.*641C>G (n.*641C>G)
c.372C>G (p.Cys124Trp)
c.*1233C>G (n.*1233C>G)
19g.18869344G=CA2326567853CERS1,GDF1c.*641C= (n.*641C=)
c.372C= (p.Cys124=)
c.*1233C= (n.*1233C=)
19g.18869344G>TCA404863407CERS1,GDF1c.*641C>A (n.*641C>A)
c.372C>A (p.Cys124Ter)
c.*1233C>A (n.*1233C>A)
 dbSNP gnomAD v4
19g.18869345C>ACA16608982CERS1,GDF1c.*640G>T (n.*640G>T)
c.371G>T (p.Cys124Phe)
c.*1232G>T (n.*1232G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869345C=CA2326567854CERS1,GDF1c.*640G= (n.*640G=)
c.371G= (p.Cys124=)
c.*1232G= (n.*1232G=)
19g.18869345C>GCA404863408CERS1,GDF1c.*640G>C (n.*640G>C)
c.371G>C (p.Cys124Ser)
c.*1232G>C (n.*1232G>C)
19g.18869345C>TCA404863409CERS1,GDF1c.*640G>A (n.*640G>A)
c.371G>A (p.Cys124Tyr)
c.*1232G>A (n.*1232G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869346A>CCA404863410CERS1,GDF1c.*639T>G (n.*639T>G)
c.370T>G (p.Cys124Gly)
c.*1231T>G (n.*1231T>G)
19g.18869346A>GCA404863412CERS1,GDF1c.*639T>C (n.*639T>C)
c.370T>C (p.Cys124Arg)
c.*1231T>C (n.*1231T>C)
19g.18869346A>TCA404863411CERS1,GDF1c.*639T>A (n.*639T>A)
c.370T>A (p.Cys124Ser)
c.*1231T>A (n.*1231T>A)
 gnomAD v4
19g.18869347A>CCA404863413CERS1,GDF1c.*638T>G (n.*638T>G)
c.369T>G (p.His123Gln)
c.*1230T>G (n.*1230T>G)
19g.18869347A>GCA506118286CERS1,GDF1c.*638T>C (n.*638T>C)
c.369T>C (p.His123=)
c.*1230T>C (n.*1230T>C)
 gnomAD v4
19g.18869347A>TCA404863414CERS1,GDF1c.*638T>A (n.*638T>A)
c.369T>A (p.His123Gln)
c.*1230T>A (n.*1230T>A)
 gnomAD v4
19g.18869348T>ACA404863415CERS1,GDF1c.*637A>T (n.*637A>T)
c.368A>T (p.His123Leu)
c.*1229A>T (n.*1229A>T)
19g.18869348T>CCA404863416CERS1,GDF1c.*637A>G (n.*637A>G)
c.368A>G (p.His123Arg)
c.*1229A>G (n.*1229A>G)
 gnomAD v4
19g.18869348T>GCA404863417CERS1,GDF1c.*637A>C (n.*637A>C)
c.368A>C (p.His123Pro)
c.*1229A>C (n.*1229A>C)
19g.18869349G>ACA404863418CERS1,GDF1c.*636C>T (n.*636C>T)
c.367C>T (p.His123Tyr)
c.*1228C>T (n.*1228C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18869349G>CCA404863419CERS1,GDF1c.*636C>G (n.*636C>G)
c.367C>G (p.His123Asp)
c.*1228C>G (n.*1228C>G)
19g.18869349G=CA2326567855CERS1,GDF1c.*636C= (n.*636C=)
c.367C= (p.His123=)
c.*1228C= (n.*1228C=)
19g.18869349G>TCA9317940CERS1,GDF1c.*636C>A (n.*636C>A)
c.367C>A (p.His123Asn)
c.*1228C>A (n.*1228C>A)
 dbSNP ExAC gnomAD v4
19g.18869350C>ACA506118290CERS1,GDF1c.*635G>T (n.*635G>T)
c.366G>T (p.Gly122=)
c.*1227G>T (n.*1227G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18869350C=CA2326567856CERS1,GDF1c.*635G= (n.*635G=)
c.366G= (p.Gly122=)
c.*1227G= (n.*1227G=)
19g.18869350C>GCA506118292CERS1,GDF1c.*635G>C (n.*635G>C)
c.366G>C (p.Gly122=)
c.*1227G>C (n.*1227G>C)
19g.18869350C>TCA506118295CERS1,GDF1c.*635G>A (n.*635G>A)
c.366G>A (p.Gly122=)
c.*1227G>A (n.*1227G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869353delCA2583634800CERS1,GDF1c.*635del (n.*635del)
c.366del (p.His123IlefsTer?)
c.*1227del (n.*1227del)
 gnomAD v4
19g.18869351C>ACA9317941CERS1,GDF1c.*634G>T (n.*634G>T)
c.365G>T (p.Gly122Val)
c.*1226G>T (n.*1226G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869351C=CA2326567857CERS1,GDF1c.*634G= (n.*634G=)
c.365G= (p.Gly122=)
c.*1226G= (n.*1226G=)
19g.18869351C>GCA404863420CERS1,GDF1c.*634G>C (n.*634G>C)
c.365G>C (p.Gly122Ala)
c.*1226G>C (n.*1226G>C)
19g.18869351C>TCA404863421CERS1,GDF1c.*634G>A (n.*634G>A)
c.365G>A (p.Gly122Glu)
c.*1226G>A (n.*1226G>A)
 gnomAD v4
19g.18869352C>ACA404863423CERS1,GDF1c.*633G>T (n.*633G>T)
c.364G>T (p.Gly122Trp)
c.*1225G>T (n.*1225G>T)
 gnomAD v4
19g.18869352C=CA2326567858CERS1,GDF1c.*633G= (n.*633G=)
c.364G= (p.Gly122=)
c.*1225G= (n.*1225G=)
19g.18869352C>GCA9317942CERS1,GDF1c.*633G>C (n.*633G>C)
c.364G>C (p.Gly122Arg)
c.*1225G>C (n.*1225G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869352C>TCA404863422CERS1,GDF1c.*633G>A (n.*633G>A)
c.364G>A (p.Gly122Arg)
c.*1225G>A (n.*1225G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869353C>ACA506118302CERS1,GDF1c.*632G>T (n.*632G>T)
c.363G>T (p.Ala121=)
c.*1224G>T (n.*1224G>T)
 gnomAD v4
19g.18869353C=CA2326567859CERS1,GDF1c.*632G= (n.*632G=)
c.363G= (p.Ala121=)
c.*1224G= (n.*1224G=)
19g.18869353C>GCA506118303CERS1,GDF1c.*632G>C (n.*632G>C)
c.363G>C (p.Ala121=)
c.*1224G>C (n.*1224G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18869353C>TCA506118304CERS1,GDF1c.*632G>A (n.*632G>A)
c.363G>A (p.Ala121=)
c.*1224G>A (n.*1224G>A)
 dbSNP gnomAD v4
19g.18869355_18869356delCA2813841596CERS1,GDF1c.*631_*632del (n.*631_*632del)
c.362_363del (p.Ala121GlyfsTer5)
c.*1223_*1224del (n.*1223_*1224del)
19g.18869354G>ACA404863425CERS1,GDF1c.*631C>T (n.*631C>T)
c.362C>T (p.Ala121Val)
c.*1223C>T (n.*1223C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18869354G>CCA404863424CERS1,GDF1c.*631C>G (n.*631C>G)
c.362C>G (p.Ala121Gly)
c.*1223C>G (n.*1223C>G)
19g.18869354G=CA2326567860CERS1,GDF1c.*631C= (n.*631C=)
c.362C= (p.Ala121=)
c.*1223C= (n.*1223C=)
19g.18869354G>TCA404863426CERS1,GDF1c.*631C>A (n.*631C>A)
c.362C>A (p.Ala121Glu)
c.*1223C>A (n.*1223C>A)
 gnomAD v4
19g.18869355C>ACA9317943CERS1,GDF1c.*630G>T (n.*630G>T)
c.361G>T (p.Ala121Ser)
c.*1222G>T (n.*1222G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869355C=CA2326567861CERS1,GDF1c.*630G= (n.*630G=)
c.361G= (p.Ala121=)
c.*1222G= (n.*1222G=)
19g.18869355C>GCA404863427CERS1,GDF1c.*630G>C (n.*630G>C)
c.361G>C (p.Ala121Pro)
c.*1222G>C (n.*1222G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.18869355C>TCA404863428CERS1,GDF1c.*630G>A (n.*630G>A)
c.361G>A (p.Ala121Thr)
c.*1222G>A (n.*1222G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869356G>ACA9317944CERS1,GDF1c.*629C>T (n.*629C>T)
c.360C>T (p.Ala120=)
c.*1221C>T (n.*1221C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869356G>CCA506118313CERS1,GDF1c.*629C>G (n.*629C>G)
c.360C>G (p.Ala120=)
c.*1221C>G (n.*1221C>G)
19g.18869356G=CA2326567862CERS1,GDF1c.*629C= (n.*629C=)
c.360C= (p.Ala120=)
c.*1221C= (n.*1221C=)
19g.18869356G>TCA506118312CERS1,GDF1c.*629C>A (n.*629C>A)
c.360C>A (p.Ala120=)
c.*1221C>A (n.*1221C>A)
 gnomAD v4
19g.18869357G>ACA404863429CERS1,GDF1c.*628C>T (n.*628C>T)
c.359C>T (p.Ala120Val)
c.*1220C>T (n.*1220C>T)
 gnomAD v4
19g.18869357G>CCA404863430CERS1,GDF1c.*628C>G (n.*628C>G)
c.359C>G (p.Ala120Gly)
c.*1220C>G (n.*1220C>G)
19g.18869357G>TCA404863431CERS1,GDF1c.*628C>A (n.*628C>A)
c.359C>A (p.Ala120Asp)
c.*1220C>A (n.*1220C>A)
 gnomAD v4
19g.18869357_18869358dupCA2576726653CERS1,GDF1c.*627_*628dup (n.*627_*628dup)
c.358_359dup (p.Ala121ProfsTer?)
c.*1219_*1220dup (n.*1219_*1220dup)
19g.18869358C>ACA404863432CERS1,GDF1c.*627G>T (n.*627G>T)
c.358G>T (p.Ala120Ser)
c.*1219G>T (n.*1219G>T)
 gnomAD v4
19g.18869358C=CA2326567863CERS1,GDF1c.*627G= (n.*627G=)
c.358G= (p.Ala120=)
c.*1219G= (n.*1219G=)
19g.18869358C>GCA404863434CERS1,GDF1c.*627G>C (n.*627G>C)
c.358G>C (p.Ala120Pro)
c.*1219G>C (n.*1219G>C)
 gnomAD v4
19g.18869358C>TCA404863433CERS1,GDF1c.*627G>A (n.*627G>A)
c.358G>A (p.Ala120Thr)
c.*1219G>A (n.*1219G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869359delCA2735826607CERS1,GDF1c.*627del (n.*627del)
c.358del (p.Ala120ProfsTer?)
c.*1219del (n.*1219del)
 dbSNP

Number of alleles fetched