Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
 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

Number of alleles fetched