Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18869342_18869365delinsGGGCAATGCCCCGCGGCCGAGGCACA2326567851CERS1,GDF1c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC)
c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (p.Pro117=)
c.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC)
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.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

Number of alleles fetched