Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18868818A>CCA404862130CERS1,GDF1c.*1167T>G (n.*1167T>G)
c.898T>G (p.Cys300Gly)
c.*1759T>G (n.*1759T>G)
19g.18868818A>GCA404862129CERS1,GDF1c.*1167T>C (n.*1167T>C)
c.898T>C (p.Cys300Arg)
c.*1759T>C (n.*1759T>C)
 gnomAD v4
19g.18868818A>TCA404862128CERS1,GDF1c.*1167T>A (n.*1167T>A)
c.898T>A (p.Cys300Ser)
c.*1759T>A (n.*1759T>A)
 gnomAD v4
19g.18868819C>ACA404862131CERS1,GDF1c.*1166G>T (n.*1166G>T)
c.897G>T (p.Gln299His)
c.*1758G>T (n.*1758G>T)
 gnomAD v4
19g.18868819C>GCA404862132CERS1,GDF1c.*1166G>C (n.*1166G>C)
c.897G>C (p.Gln299His)
c.*1758G>C (n.*1758G>C)
19g.18868819C>TCA506118154CERS1,GDF1c.*1166G>A (n.*1166G>A)
c.897G>A (p.Gln299=)
c.*1758G>A (n.*1758G>A)
 gnomAD v4
19g.18868820T>ACA404862133CERS1,GDF1c.*1165A>T (n.*1165A>T)
c.896A>T (p.Gln299Leu)
c.*1757A>T (n.*1757A>T)
19g.18868820T>CCA404862134CERS1,GDF1c.*1165A>G (n.*1165A>G)
c.896A>G (p.Gln299Arg)
c.*1757A>G (n.*1757A>G)
 gnomAD v4
19g.18868820T>GCA404862135CERS1,GDF1c.*1165A>C (n.*1165A>C)
c.896A>C (p.Gln299Pro)
c.*1757A>C (n.*1757A>C)
19g.18868821G>ACA404862136CERS1,GDF1c.*1164C>T (n.*1164C>T)
c.895C>T (p.Gln299Ter)
c.*1756C>T (n.*1756C>T)
 gnomAD v4
19g.18868821G>CCA404862137CERS1,GDF1c.*1164C>G (n.*1164C>G)
c.895C>G (p.Gln299Glu)
c.*1756C>G (n.*1756C>G)
 gnomAD v4
19g.18868821G>TCA404862138CERS1,GDF1c.*1164C>A (n.*1164C>A)
c.895C>A (p.Gln299Lys)
c.*1756C>A (n.*1756C>A)
 gnomAD v4
19g.18868822A>CCA506118159CERS1,GDF1c.*1163T>G (n.*1163T>G)
c.894T>G (p.Gly298=)
c.*1755T>G (n.*1755T>G)
19g.18868822A>GCA506118160CERS1,GDF1c.*1163T>C (n.*1163T>C)
c.894T>C (p.Gly298=)
c.*1755T>C (n.*1755T>C)
 gnomAD v4
19g.18868822A>TCA506118161CERS1,GDF1c.*1163T>A (n.*1163T>A)
c.894T>A (p.Gly298=)
c.*1755T>A (n.*1755T>A)
19g.18868823C>ACA404862141CERS1,GDF1c.*1162G>T (n.*1162G>T)
c.893G>T (p.Gly298Val)
c.*1754G>T (n.*1754G>T)
 gnomAD v4
19g.18868823C=CA2326567557CERS1,GDF1c.*1162G= (n.*1162G=)
c.893G= (p.Gly298=)
c.*1754G= (n.*1754G=)
19g.18868823C>GCA404862139CERS1,GDF1c.*1162G>C (n.*1162G>C)
c.893G>C (p.Gly298Ala)
c.*1754G>C (n.*1754G>C)
 gnomAD v4
19g.18868823C>TCA404862140CERS1,GDF1c.*1162G>A (n.*1162G>A)
c.893G>A (p.Gly298Asp)
c.*1754G>A (n.*1754G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18868824C>ACA404862142CERS1,GDF1c.*1161G>T (n.*1161G>T)
c.892G>T (p.Gly298Cys)
c.*1753G>T (n.*1753G>T)
 gnomAD v4
19g.18868824C=CA2326567558CERS1,GDF1c.*1161G= (n.*1161G=)
c.892G= (p.Gly298=)
c.*1753G= (n.*1753G=)
19g.18868824C>GCA404862143CERS1,GDF1c.*1161G>C (n.*1161G>C)
c.892G>C (p.Gly298Arg)
c.*1753G>C (n.*1753G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.18868824C>TCA404862144CERS1,GDF1c.*1161G>A (n.*1161G>A)
c.892G>A (p.Gly298Ser)
c.*1753G>A (n.*1753G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18868825C>ACA404862145CERS1,GDF1c.*1160G>T (n.*1160G>T)
c.891G>T (p.Gln297His)
c.*1752G>T (n.*1752G>T)
 gnomAD v4
19g.18868825C=CA2326567559CERS1,GDF1c.*1160G= (n.*1160G=)
c.891G= (p.Gln297=)
c.*1752G= (n.*1752G=)
19g.18868825C>GCA404862146CERS1,GDF1c.*1160G>C (n.*1160G>C)
c.891G>C (p.Gln297His)
c.*1752G>C (n.*1752G>C)
 ClinVar dbSNP gnomAD v4
19g.18868825C>TCA306231609CERS1,GDF1c.*1160G>A (n.*1160G>A)
c.891G>A (p.Gln297=)
c.*1752G>A (n.*1752G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868826T>ACA404862147CERS1,GDF1c.*1159A>T (n.*1159A>T)
c.890A>T (p.Gln297Leu)
c.*1751A>T (n.*1751A>T)
19g.18868826T>CCA404862149CERS1,GDF1c.*1159A>G (n.*1159A>G)
c.890A>G (p.Gln297Arg)
c.*1751A>G (n.*1751A>G)
 dbSNP gnomAD v4
19g.18868826T>GCA404862148CERS1,GDF1c.*1159A>C (n.*1159A>C)
c.890A>C (p.Gln297Pro)
c.*1751A>C (n.*1751A>C)
19g.18868826T=CA2326567560CERS1,GDF1c.*1159A= (n.*1159A=)
c.890A= (p.Gln297=)
c.*1751A= (n.*1751A=)
19g.18868827G>ACA404862150CERS1,GDF1c.*1158C>T (n.*1158C>T)
c.889C>T (p.Gln297Ter)
c.*1750C>T (n.*1750C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18868827G>CCA404862151CERS1,GDF1c.*1158C>G (n.*1158C>G)
c.889C>G (p.Gln297Glu)
c.*1750C>G (n.*1750C>G)
 gnomAD v4
19g.18868827G=CA2326567561CERS1,GDF1c.*1158C= (n.*1158C=)
c.889C= (p.Gln297=)
c.*1750C= (n.*1750C=)
19g.18868827G>TCA404862152CERS1,GDF1c.*1158C>A (n.*1158C>A)
c.889C>A (p.Gln297Lys)
c.*1750C>A (n.*1750C>A)
 gnomAD v4
19g.18868828delCA2583634715CERS1,GDF1c.*1158del (n.*1158del)
c.889del (p.Gln297ArgfsTer?)
c.*1750del (n.*1750del)
 gnomAD v4
19g.18868828G>ACA506118167CERS1,GDF1c.*1157C>T (n.*1157C>T)
c.888C>T (p.Cys296=)
c.*1749C>T (n.*1749C>T)
 dbSNP gnomAD v4
19g.18868828G>CCA404862153CERS1,GDF1c.*1157C>G (n.*1157C>G)
c.888C>G (p.Cys296Trp)
c.*1749C>G (n.*1749C>G)
 dbSNP gnomAD v4
19g.18868828G=CA2326567562CERS1,GDF1c.*1157C= (n.*1157C=)
c.888C= (p.Cys296=)
c.*1749C= (n.*1749C=)
19g.18868828G>TCA404862154CERS1,GDF1c.*1157C>A (n.*1157C>A)
c.888C>A (p.Cys296Ter)
c.*1749C>A (n.*1749C>A)
 gnomAD v4
19g.18868829C>ACA404862155CERS1,GDF1c.*1156G>T (n.*1156G>T)
c.887G>T (p.Cys296Phe)
c.*1748G>T (n.*1748G>T)
 gnomAD v4
19g.18868829C>GCA404862156CERS1,GDF1c.*1156G>C (n.*1156G>C)
c.887G>C (p.Cys296Ser)
c.*1748G>C (n.*1748G>C)
19g.18868829C>TCA404862157CERS1,GDF1c.*1156G>A (n.*1156G>A)
c.887G>A (p.Cys296Tyr)
c.*1748G>A (n.*1748G>A)
 gnomAD v4
19g.18868830A>CCA404862158CERS1,GDF1c.*1155T>G (n.*1155T>G)
c.886T>G (p.Cys296Gly)
c.*1747T>G (n.*1747T>G)
19g.18868830A>GCA404862159CERS1,GDF1c.*1155T>C (n.*1155T>C)
c.886T>C (p.Cys296Arg)
c.*1747T>C (n.*1747T>C)
 gnomAD v4
19g.18868830A>TCA404862160CERS1,GDF1c.*1155T>A (n.*1155T>A)
c.886T>A (p.Cys296Ser)
c.*1747T>A (n.*1747T>A)
 gnomAD v4
19g.18868831G>ACA506118171CERS1,GDF1c.*1154C>T (n.*1154C>T)
c.885C>T (p.Tyr295=)
c.*1746C>T (n.*1746C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868831G>CCA404862162CERS1,GDF1c.*1154C>G (n.*1154C>G)
c.885C>G (p.Tyr295Ter)
c.*1746C>G (n.*1746C>G)
 gnomAD v4
19g.18868831G=CA2326567563CERS1,GDF1c.*1154C= (n.*1154C=)
c.885C= (p.Tyr295=)
c.*1746C= (n.*1746C=)
19g.18868831G>TCA404862161CERS1,GDF1c.*1154C>A (n.*1154C>A)
c.885C>A (p.Tyr295Ter)
c.*1746C>A (n.*1746C>A)
 gnomAD v4

Number of alleles fetched