Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
19g.18868832T>ACA404862163CERS1,GDF1c.*1153A>T (n.*1153A>T)
c.884A>T (p.Tyr295Phe)
c.*1745A>T (n.*1745A>T)
19g.18868832T>CCA404862164CERS1,GDF1c.*1153A>G (n.*1153A>G)
c.884A>G (p.Tyr295Cys)
c.*1745A>G (n.*1745A>G)
 gnomAD v4
19g.18868832T>GCA404862165CERS1,GDF1c.*1153A>C (n.*1153A>C)
c.884A>C (p.Tyr295Ser)
c.*1745A>C (n.*1745A>C)
19g.18868833A=CA2326567564CERS1,GDF1c.*1152T= (n.*1152T=)
c.883T= (p.Tyr295=)
c.*1744T= (n.*1744T=)
19g.18868833A>CCA404862166CERS1,GDF1c.*1152T>G (n.*1152T>G)
c.883T>G (p.Tyr295Asp)
c.*1744T>G (n.*1744T>G)
19g.18868833A>GCA404862167CERS1,GDF1c.*1152T>C (n.*1152T>C)
c.883T>C (p.Tyr295His)
c.*1744T>C (n.*1744T>C)
 gnomAD v4
19g.18868833A>TCA404862168CERS1,GDF1c.*1152T>A (n.*1152T>A)
c.883T>A (p.Tyr295Asn)
c.*1744T>A (n.*1744T>A)
 ClinVar dbSNP
19g.18868834G>ACA506118178CERS1,GDF1c.*1151C>T (n.*1151C>T)
c.882C>T (p.Asn294=)
c.*1743C>T (n.*1743C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868834G>CCA404862170CERS1,GDF1c.*1151C>G (n.*1151C>G)
c.882C>G (p.Asn294Lys)
c.*1743C>G (n.*1743C>G)
19g.18868834G=CA2326567565CERS1,GDF1c.*1151C= (n.*1151C=)
c.882C= (p.Asn294=)
c.*1743C= (n.*1743C=)
19g.18868834G>TCA404862169CERS1,GDF1c.*1151C>A (n.*1151C>A)
c.882C>A (p.Asn294Lys)
c.*1743C>A (n.*1743C>A)
 gnomAD v4
19g.18868835_18868837delCA2583634716CERS1,GDF1c.*1149_*1151del (n.*1149_*1151del)
c.880_882del (p.Asn294del)
c.*1741_*1743del (n.*1741_*1743del)
 gnomAD v4
19g.18868835T>ACA404862171CERS1,GDF1c.*1150A>T (n.*1150A>T)
c.881A>T (p.Asn294Ile)
c.*1742A>T (n.*1742A>T)
19g.18868835T>CCA404862172CERS1,GDF1c.*1150A>G (n.*1150A>G)
c.881A>G (p.Asn294Ser)
c.*1742A>G (n.*1742A>G)
 gnomAD v4
19g.18868835T>GCA404862173CERS1,GDF1c.*1150A>C (n.*1150A>C)
c.881A>C (p.Asn294Thr)
c.*1742A>C (n.*1742A>C)
19g.18868836T>ACA404862174CERS1,GDF1c.*1149A>T (n.*1149A>T)
c.880A>T (p.Asn294Tyr)
c.*1741A>T (n.*1741A>T)
19g.18868836T>CCA404862175CERS1,GDF1c.*1149A>G (n.*1149A>G)
c.880A>G (p.Asn294Asp)
c.*1741A>G (n.*1741A>G)
19g.18868836T>GCA404862176CERS1,GDF1c.*1149A>C (n.*1149A>C)
c.880A>C (p.Asn294His)
c.*1741A>C (n.*1741A>C)
19g.18868836_18868837delinsTGCA2326567566CERS1,GDF1c.*1148_*1149delinsCA (n.*1148_*1149delinsCA)
c.879_880delinsCA (p.Ala293=)
c.*1740_*1741delinsCA (n.*1740_*1741delinsCA)
19g.18868837G>ACA506118185CERS1,GDF1c.*1148C>T (n.*1148C>T)
c.879C>T (p.Ala293=)
c.*1740C>T (n.*1740C>T)
 gnomAD v4
19g.18868837G>CCA506118186CERS1,GDF1c.*1148C>G (n.*1148C>G)
c.879C>G (p.Ala293=)
c.*1740C>G (n.*1740C>G)
19g.18868837G>TCA506118187CERS1,GDF1c.*1148C>A (n.*1148C>A)
c.879C>A (p.Ala293=)
c.*1740C>A (n.*1740C>A)
 gnomAD v4
19g.18868838delCA632627029CERS1,GDF1c.*1148del (n.*1148del)
c.879del (p.Asn294ThrfsTer?)
c.*1740del (n.*1740del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868838G>ACA404862179CERS1,GDF1c.*1147C>T (n.*1147C>T)
c.878C>T (p.Ala293Val)
c.*1739C>T (n.*1739C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868838G>CCA404862177CERS1,GDF1c.*1147C>G (n.*1147C>G)
c.878C>G (p.Ala293Gly)
c.*1739C>G (n.*1739C>G)
 gnomAD v4
19g.18868838G=CA2326567567CERS1,GDF1c.*1147C= (n.*1147C=)
c.878C= (p.Ala293=)
c.*1739C= (n.*1739C=)
19g.18868838G>TCA404862178CERS1,GDF1c.*1147C>A (n.*1147C>A)
c.878C>A (p.Ala293Asp)
c.*1739C>A (n.*1739C>A)
 gnomAD v4
19g.18868841_18868848delCA2583634717CERS1,GDF1c.*1140_*1147del (n.*1140_*1147del)
c.871_878del (p.Phe291GlnfsTer?)
c.*1732_*1739del (n.*1732_*1739del)
 gnomAD v4
19g.18868839C>ACA404862180CERS1,GDF1c.*1146G>T (n.*1146G>T)
c.877G>T (p.Ala293Ser)
c.*1738G>T (n.*1738G>T)
 gnomAD v4
19g.18868839C=CA2326567568CERS1,GDF1c.*1146G= (n.*1146G=)
c.877G= (p.Ala293=)
c.*1738G= (n.*1738G=)
19g.18868839C>GCA404862181CERS1,GDF1c.*1146G>C (n.*1146G>C)
c.877G>C (p.Ala293Pro)
c.*1738G>C (n.*1738G>C)
 gnomAD v4
19g.18868839C>TCA404862182CERS1,GDF1c.*1146G>A (n.*1146G>A)
c.877G>A (p.Ala293Thr)
c.*1738G>A (n.*1738G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868840delCA2583634718CERS1,GDF1c.*1146del (n.*1146del)
c.877del (p.Ala293ProfsTer?)
c.*1738del (n.*1738del)
 gnomAD v4
19g.18868840C>ACA506118190CERS1,GDF1c.*1145G>T (n.*1145G>T)
c.876G>T (p.Leu292=)
c.*1737G>T (n.*1737G>T)
 gnomAD v4
19g.18868840C=CA2326567569CERS1,GDF1c.*1145G= (n.*1145G=)
c.876G= (p.Leu292=)
c.*1737G= (n.*1737G=)
19g.18868840C>GCA506118192CERS1,GDF1c.*1145G>C (n.*1145G>C)
c.876G>C (p.Leu292=)
c.*1737G>C (n.*1737G>C)
 gnomAD v4
19g.18868840C>TCA306231618CERS1,GDF1c.*1145G>A (n.*1145G>A)
c.876G>A (p.Leu292=)
c.*1737G>A (n.*1737G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868841delCA2583634719CERS1,GDF1c.*1144del (n.*1144del)
c.875del (p.Leu292ArgfsTer?)
c.*1736del (n.*1736del)
 gnomAD v4
19g.18868841A=CA2326567570CERS1,GDF1c.*1144T= (n.*1144T=)
c.875T= (p.Leu292=)
c.*1736T= (n.*1736T=)
19g.18868841A>CCA404862183CERS1,GDF1c.*1144T>G (n.*1144T>G)
c.875T>G (p.Leu292Arg)
c.*1736T>G (n.*1736T>G)
19g.18868841A>GCA404862184CERS1,GDF1c.*1144T>C (n.*1144T>C)
c.875T>C (p.Leu292Pro)
c.*1736T>C (n.*1736T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868841A>TCA404862185CERS1,GDF1c.*1144T>A (n.*1144T>A)
c.875T>A (p.Leu292Gln)
c.*1736T>A (n.*1736T>A)
 gnomAD v3 gnomAD v4
19g.18868842G>ACA506118197CERS1,GDF1c.*1143C>T (n.*1143C>T)
c.874C>T (p.Leu292=)
c.*1735C>T (n.*1735C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18868842G>CCA404862186CERS1,GDF1c.*1143C>G (n.*1143C>G)
c.874C>G (p.Leu292Val)
c.*1735C>G (n.*1735C>G)
 dbSNP gnomAD v4
19g.18868842G=CA2326567571CERS1,GDF1c.*1143C= (n.*1143C=)
c.874C= (p.Leu292=)
c.*1735C= (n.*1735C=)
19g.18868842G>TCA404862187CERS1,GDF1c.*1143C>A (n.*1143C>A)
c.874C>A (p.Leu292Met)
c.*1735C>A (n.*1735C>A)
 gnomAD v4
19g.18868843G>ACA506118198CERS1,GDF1c.*1142C>T (n.*1142C>T)
c.873C>T (p.Phe291=)
c.*1734C>T (n.*1734C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868843G>CCA404862188CERS1,GDF1c.*1142C>G (n.*1142C>G)
c.873C>G (p.Phe291Leu)
c.*1734C>G (n.*1734C>G)
19g.18868843G=CA2326567572CERS1,GDF1c.*1142C= (n.*1142C=)
c.873C= (p.Phe291=)
c.*1734C= (n.*1734C=)
19g.18868843G>TCA404862189CERS1,GDF1c.*1142C>A (n.*1142C>A)
c.873C>A (p.Phe291Leu)
c.*1734C>A (n.*1734C>A)
 gnomAD v4
19g.18868844A=CA2326567573CERS1,GDF1c.*1141T= (n.*1141T=)
c.872T= (p.Phe291=)
c.*1733T= (n.*1733T=)
19g.18868844A>CCA404862190CERS1,GDF1c.*1141T>G (n.*1141T>G)
c.872T>G (p.Phe291Cys)
c.*1733T>G (n.*1733T>G)
19g.18868844A>GCA404862191CERS1,GDF1c.*1141T>C (n.*1141T>C)
c.872T>C (p.Phe291Ser)
c.*1733T>C (n.*1733T>C)
 dbSNP gnomAD v4
19g.18868844A>TCA404862192CERS1,GDF1c.*1141T>A (n.*1141T>A)
c.872T>A (p.Phe291Tyr)
c.*1733T>A (n.*1733T>A)
19g.18868845delCA2583634720CERS1,GDF1c.*1141del (n.*1141del)
c.872del (p.Phe291SerfsTer?)
c.*1733del (n.*1733del)
 gnomAD v4
19g.18868845A=CA2326567574CERS1,GDF1c.*1140T= (n.*1140T=)
c.871T= (p.Phe291=)
c.*1732T= (n.*1732T=)
19g.18868845A>CCA404862195CERS1,GDF1c.*1140T>G (n.*1140T>G)
c.871T>G (p.Phe291Val)
c.*1732T>G (n.*1732T>G)
 gnomAD v4
19g.18868845A>GCA404862193CERS1,GDF1c.*1140T>C (n.*1140T>C)
c.871T>C (p.Phe291Leu)
c.*1732T>C (n.*1732T>C)
 gnomAD v4
19g.18868845A>TCA404862194CERS1,GDF1c.*1140T>A (n.*1140T>A)
c.871T>A (p.Phe291Ile)
c.*1732T>A (n.*1732T>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868846G>ACA506118204CERS1,GDF1c.*1139C>T (n.*1139C>T)
c.870C>T (p.Gly290=)
c.*1731C>T (n.*1731C>T)
 gnomAD v4
19g.18868846G>CCA506118205CERS1,GDF1c.*1139C>G (n.*1139C>G)
c.870C>G (p.Gly290=)
c.*1731C>G (n.*1731C>G)
19g.18868846G>TCA506118206CERS1,GDF1c.*1139C>A (n.*1139C>A)
c.870C>A (p.Gly290=)
c.*1731C>A (n.*1731C>A)
 gnomAD v4
19g.18868847C>ACA404862196CERS1,GDF1c.*1138G>T (n.*1138G>T)
c.869G>T (p.Gly290Val)
c.*1730G>T (n.*1730G>T)
 gnomAD v4
19g.18868847C>GCA404862198CERS1,GDF1c.*1138G>C (n.*1138G>C)
c.869G>C (p.Gly290Ala)
c.*1730G>C (n.*1730G>C)
19g.18868847C>TCA404862197CERS1,GDF1c.*1138G>A (n.*1138G>A)
c.869G>A (p.Gly290Asp)
c.*1730G>A (n.*1730G>A)
 gnomAD v4
19g.18868848C>ACA306231619CERS1,GDF1c.*1137G>T (n.*1137G>T)
c.868G>T (p.Gly290Cys)
c.*1729G>T (n.*1729G>T)
 dbSNP gnomAD v4
19g.18868848C=CA2326567575CERS1,GDF1c.*1137G= (n.*1137G=)
c.868G= (p.Gly290=)
c.*1729G= (n.*1729G=)
19g.18868848C>GCA404862199CERS1,GDF1c.*1137G>C (n.*1137G>C)
c.868G>C (p.Gly290Arg)
c.*1729G>C (n.*1729G>C)
 gnomAD v4
19g.18868848C>TCA404862200CERS1,GDF1c.*1137G>A (n.*1137G>A)
c.868G>A (p.Gly290Ser)
c.*1729G>A (n.*1729G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868854_18868914delCA2583634721CERS1,GDF1c.*1077_*1137del (n.*1077_*1137del)
c.808_868del (p.Arg270AlafsTer?)
c.*1669_*1729del (n.*1669_*1729del)
 gnomAD v4
19g.18868849G>ACA506118212CERS1,GDF1c.*1136C>T (n.*1136C>T)
c.867C>T (p.Arg289=)
c.*1728C>T (n.*1728C>T)
 gnomAD v3 gnomAD v4
19g.18868849G>CCA506118215CERS1,GDF1c.*1136C>G (n.*1136C>G)
c.867C>G (p.Arg289=)
c.*1728C>G (n.*1728C>G)
19g.18868849G>TCA506118213CERS1,GDF1c.*1136C>A (n.*1136C>A)
c.867C>A (p.Arg289=)
c.*1728C>A (n.*1728C>A)
 gnomAD v4
19g.18868850C>ACA404862201CERS1,GDF1c.*1135G>T (n.*1135G>T)
c.866G>T (p.Arg289Leu)
c.*1727G>T (n.*1727G>T)
 gnomAD v4
19g.18868850C>GCA404862202CERS1,GDF1c.*1135G>C (n.*1135G>C)
c.866G>C (p.Arg289Pro)
c.*1727G>C (n.*1727G>C)
19g.18868850C>TCA404862203CERS1,GDF1c.*1135G>A (n.*1135G>A)
c.866G>A (p.Arg289His)
c.*1727G>A (n.*1727G>A)
 gnomAD v4
19g.18868851G>ACA404862204CERS1,GDF1c.*1134C>T (n.*1134C>T)
c.865C>T (p.Arg289Cys)
c.*1726C>T (n.*1726C>T)
 gnomAD v4
19g.18868851G>CCA404862205CERS1,GDF1c.*1134C>G (n.*1134C>G)
c.865C>G (p.Arg289Gly)
c.*1726C>G (n.*1726C>G)
 gnomAD v4
19g.18868851G>TCA404862206CERS1,GDF1c.*1134C>A (n.*1134C>A)
c.865C>A (p.Arg289Ser)
c.*1726C>A (n.*1726C>A)
 gnomAD v4
19g.18868852C>ACA506118219CERS1,GDF1c.*1133G>T (n.*1133G>T)
c.864G>T (p.Pro288=)
c.*1725G>T (n.*1725G>T)
 dbSNP gnomAD v4
19g.18868852C=CA2326567576CERS1,GDF1c.*1133G= (n.*1133G=)
c.864G= (p.Pro288=)
c.*1725G= (n.*1725G=)
19g.18868852C>GCA506118220CERS1,GDF1c.*1133G>C (n.*1133G>C)
c.864G>C (p.Pro288=)
c.*1725G>C (n.*1725G>C)
 gnomAD v4
19g.18868852C>TCA506118222CERS1,GDF1c.*1133G>A (n.*1133G>A)
c.864G>A (p.Pro288=)
c.*1725G>A (n.*1725G>A)
 ClinVar gnomAD v3 gnomAD v4
19g.18868853G>ACA404862207CERS1,GDF1c.*1132C>T (n.*1132C>T)
c.863C>T (p.Pro288Leu)
c.*1724C>T (n.*1724C>T)
 gnomAD v4
19g.18868853G>CCA404862208CERS1,GDF1c.*1132C>G (n.*1132C>G)
c.863C>G (p.Pro288Arg)
c.*1724C>G (n.*1724C>G)
19g.18868853G>TCA404862209CERS1,GDF1c.*1132C>A (n.*1132C>A)
c.863C>A (p.Pro288Gln)
c.*1724C>A (n.*1724C>A)
 gnomAD v4
19g.18868854G>ACA404862210CERS1,GDF1c.*1131C>T (n.*1131C>T)
c.862C>T (p.Pro288Ser)
c.*1723C>T (n.*1723C>T)
 gnomAD v4
19g.18868854G>CCA404862212CERS1,GDF1c.*1131C>G (n.*1131C>G)
c.862C>G (p.Pro288Ala)
c.*1723C>G (n.*1723C>G)
 gnomAD v4
19g.18868854G>TCA404862211CERS1,GDF1c.*1131C>A (n.*1131C>A)
c.862C>A (p.Pro288Thr)
c.*1723C>A (n.*1723C>A)
 gnomAD v4
19g.18868855C>ACA506118226CERS1,GDF1c.*1130G>T (n.*1130G>T)
c.861G>T (p.Ala287=)
c.*1722G>T (n.*1722G>T)
 gnomAD v4
19g.18868855C>GCA506118227CERS1,GDF1c.*1130G>C (n.*1130G>C)
c.861G>C (p.Ala287=)
c.*1722G>C (n.*1722G>C)
19g.18868855C>TCA506118228CERS1,GDF1c.*1130G>A (n.*1130G>A)
c.861G>A (p.Ala287=)
c.*1722G>A (n.*1722G>A)
 gnomAD v4
19g.18868856G>ACA9317917CERS1,GDF1c.*1129C>T (n.*1129C>T)
c.860C>T (p.Ala287Val)
c.*1721C>T (n.*1721C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18868856G>CCA404862213CERS1,GDF1c.*1129C>G (n.*1129C>G)
c.860C>G (p.Ala287Gly)
c.*1721C>G (n.*1721C>G)
19g.18868856G=CA2326567577CERS1,GDF1c.*1129C= (n.*1129C=)
c.860C= (p.Ala287=)
c.*1721C= (n.*1721C=)
19g.18868856G>TCA404862214CERS1,GDF1c.*1129C>A (n.*1129C>A)
c.860C>A (p.Ala287Glu)
c.*1721C>A (n.*1721C>A)
 gnomAD v4
19g.18868857C>ACA404862215CERS1,GDF1c.*1128G>T (n.*1128G>T)
c.859G>T (p.Ala287Ser)
c.*1720G>T (n.*1720G>T)
 gnomAD v4
19g.18868857C>GCA404862216CERS1,GDF1c.*1128G>C (n.*1128G>C)
c.859G>C (p.Ala287Pro)
c.*1720G>C (n.*1720G>C)
19g.18868857C>TCA404862217CERS1,GDF1c.*1128G>A (n.*1128G>A)
c.859G>A (p.Ala287Thr)
c.*1720G>A (n.*1720G>A)
 gnomAD v4
19g.18868858G>ACA506118235CERS1,GDF1c.*1127C>T (n.*1127C>T)
c.858C>T (p.Ile286=)
c.*1719C>T (n.*1719C>T)
 gnomAD v4
19g.18868858G>CCA404862218CERS1,GDF1c.*1127C>G (n.*1127C>G)
c.858C>G (p.Ile286Met)
c.*1719C>G (n.*1719C>G)
19g.18868858G>TCA506118236CERS1,GDF1c.*1127C>A (n.*1127C>A)
c.858C>A (p.Ile286=)
c.*1719C>A (n.*1719C>A)
 gnomAD v4
19g.18868859A>CCA404862219CERS1,GDF1c.*1126T>G (n.*1126T>G)
c.857T>G (p.Ile286Ser)
c.*1718T>G (n.*1718T>G)
19g.18868859A>GCA404862220CERS1,GDF1c.*1126T>C (n.*1126T>C)
c.857T>C (p.Ile286Thr)
c.*1718T>C (n.*1718T>C)
 gnomAD v4
19g.18868859A>TCA404862221CERS1,GDF1c.*1126T>A (n.*1126T>A)
c.857T>A (p.Ile286Asn)
c.*1718T>A (n.*1718T>A)
 gnomAD v4
19g.18868860T>ACA404862224CERS1,GDF1c.*1125A>T (n.*1125A>T)
c.856A>T (p.Ile286Phe)
c.*1717A>T (n.*1717A>T)
 gnomAD v4
19g.18868860T>CCA404862223CERS1,GDF1c.*1125A>G (n.*1125A>G)
c.856A>G (p.Ile286Val)
c.*1717A>G (n.*1717A>G)
 gnomAD v4
19g.18868860T>GCA404862222CERS1,GDF1c.*1125A>C (n.*1125A>C)
c.856A>C (p.Ile286Leu)
c.*1717A>C (n.*1717A>C)
19g.18868861G>ACA506118239CERS1,GDF1c.*1124C>T (n.*1124C>T)
c.855C>T (p.Val285=)
c.*1716C>T (n.*1716C>T)
 gnomAD v4
19g.18868861G>CCA506118240CERS1,GDF1c.*1124C>G (n.*1124C>G)
c.855C>G (p.Val285=)
c.*1716C>G (n.*1716C>G)
 gnomAD v4
19g.18868861G>TCA506118241CERS1,GDF1c.*1124C>A (n.*1124C>A)
c.855C>A (p.Val285=)
c.*1716C>A (n.*1716C>A)
 gnomAD v4
19g.18868862A>CCA404862227CERS1,GDF1c.*1123T>G (n.*1123T>G)
c.854T>G (p.Val285Gly)
c.*1715T>G (n.*1715T>G)
19g.18868862A>GCA404862225CERS1,GDF1c.*1123T>C (n.*1123T>C)
c.854T>C (p.Val285Ala)
c.*1715T>C (n.*1715T>C)
 gnomAD v4
19g.18868862A>TCA404862226CERS1,GDF1c.*1123T>A (n.*1123T>A)
c.854T>A (p.Val285Asp)
c.*1715T>A (n.*1715T>A)
19g.18868863C>ACA404862228CERS1,GDF1c.*1122G>T (n.*1122G>T)
c.853G>T (p.Val285Phe)
c.*1714G>T (n.*1714G>T)
 gnomAD v4
19g.18868863C=CA2326567578CERS1,GDF1c.*1122G= (n.*1122G=)
c.853G= (p.Val285=)
c.*1714G= (n.*1714G=)
19g.18868863C>GCA404862229CERS1,GDF1c.*1122G>C (n.*1122G>C)
c.853G>C (p.Val285Leu)
c.*1714G>C (n.*1714G>C)
19g.18868863C>TCA404862230CERS1,GDF1c.*1122G>A (n.*1122G>A)
c.853G>A (p.Val285Ile)
c.*1714G>A (n.*1714G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868865delCA2583634722CERS1,GDF1c.*1122del (n.*1122del)
c.853del (p.Val285SerfsTer?)
c.*1714del (n.*1714del)
 gnomAD v4
19g.18868864C>ACA404862233CERS1,GDF1c.*1121G>T (n.*1121G>T)
c.852G>T (p.Trp284Cys)
c.*1713G>T (n.*1713G>T)
 gnomAD v4
19g.18868864C=CA2326567579CERS1,GDF1c.*1121G= (n.*1121G=)
c.852G= (p.Trp284=)
c.*1713G= (n.*1713G=)
19g.18868864C>GCA404862232CERS1,GDF1c.*1121G>C (n.*1121G>C)
c.852G>C (p.Trp284Cys)
c.*1713G>C (n.*1713G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18868864C>TCA404862231CERS1,GDF1c.*1121G>A (n.*1121G>A)
c.852G>A (p.Trp284Ter)
c.*1713G>A (n.*1713G>A)
 gnomAD v4
19g.18868865C>ACA404862234CERS1,GDF1c.*1120G>T (n.*1120G>T)
c.851G>T (p.Trp284Leu)
c.*1712G>T (n.*1712G>T)
 gnomAD v4
19g.18868865C>GCA404862235CERS1,GDF1c.*1120G>C (n.*1120G>C)
c.851G>C (p.Trp284Ser)
c.*1712G>C (n.*1712G>C)
 gnomAD v4
19g.18868865C>TCA404862236CERS1,GDF1c.*1120G>A (n.*1120G>A)
c.851G>A (p.Trp284Ter)
c.*1712G>A (n.*1712G>A)
 ClinVar dbSNP gnomAD v4
19g.18868866A=CA2326567580CERS1,GDF1c.*1119T= (n.*1119T=)
c.850T= (p.Trp284=)
c.*1711T= (n.*1711T=)
19g.18868866A>CCA404862237CERS1,GDF1c.*1119T>G (n.*1119T>G)
c.850T>G (p.Trp284Gly)
c.*1711T>G (n.*1711T>G)
 gnomAD v4
19g.18868866A>GCA404862238CERS1,GDF1c.*1119T>C (n.*1119T>C)
c.850T>C (p.Trp284Arg)
c.*1711T>C (n.*1711T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.18868866A>TCA404862239CERS1,GDF1c.*1119T>A (n.*1119T>A)
c.850T>A (p.Trp284Arg)
c.*1711T>A (n.*1711T>A)
19g.18868867G>ACA506118249CERS1,GDF1c.*1118C>T (n.*1118C>T)
c.849C>T (p.Arg283=)
c.*1710C>T (n.*1710C>T)
 gnomAD v4
19g.18868867G>CCA506118251CERS1,GDF1c.*1118C>G (n.*1118C>G)
c.849C>G (p.Arg283=)
c.*1710C>G (n.*1710C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868867G=CA2326567581CERS1,GDF1c.*1118C= (n.*1118C=)
c.849C= (p.Arg283=)
c.*1710C= (n.*1710C=)
19g.18868867G>TCA506118252CERS1,GDF1c.*1118C>A (n.*1118C>A)
c.849C>A (p.Arg283=)
c.*1710C>A (n.*1710C>A)
19g.18868867_18868877dupCA2583634723CERS1,GDF1c.*1108_*1118dup (n.*1108_*1118dup)
c.839_849dup (p.Trp284AlafsTer?)
c.*1700_*1710dup (n.*1700_*1710dup)
 gnomAD v4
19g.18868868C>ACA404862240CERS1,GDF1c.*1117G>T (n.*1117G>T)
c.848G>T (p.Arg283Leu)
c.*1709G>T (n.*1709G>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868868C=CA2326567582CERS1,GDF1c.*1117G= (n.*1117G=)
c.848G= (p.Arg283=)
c.*1709G= (n.*1709G=)
19g.18868868C>GCA404862242CERS1,GDF1c.*1117G>C (n.*1117G>C)
c.848G>C (p.Arg283Pro)
c.*1709G>C (n.*1709G>C)
19g.18868868C>TCA404862241CERS1,GDF1c.*1117G>A (n.*1117G>A)
c.848G>A (p.Arg283His)
c.*1709G>A (n.*1709G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868869G>ACA404862243CERS1,GDF1c.*1116C>T (n.*1116C>T)
c.847C>T (p.Arg283Cys)
c.*1708C>T (n.*1708C>T)
 dbSNP gnomAD v4
19g.18868869G>CCA404862244CERS1,GDF1c.*1116C>G (n.*1116C>G)
c.847C>G (p.Arg283Gly)
c.*1708C>G (n.*1708C>G)
 gnomAD v4
19g.18868869G=CA2326567583CERS1,GDF1c.*1116C= (n.*1116C=)
c.847C= (p.Arg283=)
c.*1708C= (n.*1708C=)
19g.18868869G>TCA404862245CERS1,GDF1c.*1116C>A (n.*1116C>A)
c.847C>A (p.Arg283Ser)
c.*1708C>A (n.*1708C>A)
 gnomAD v4
19g.18868870G>ACA506118255CERS1,GDF1c.*1115C>T (n.*1115C>T)
c.846C>T (p.His282=)
c.*1707C>T (n.*1707C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868870G>CCA404862246CERS1,GDF1c.*1115C>G (n.*1115C>G)
c.846C>G (p.His282Gln)
c.*1707C>G (n.*1707C>G)
19g.18868870G>TCA404862247CERS1,GDF1c.*1115C>A (n.*1115C>A)
c.846C>A (p.His282Gln)
c.*1707C>A (n.*1707C>A)
 gnomAD v4
19g.18868871T>ACA404862248CERS1,GDF1c.*1114A>T (n.*1114A>T)
c.845A>T (p.His282Leu)
c.*1706A>T (n.*1706A>T)
19g.18868871T>CCA404862249CERS1,GDF1c.*1114A>G (n.*1114A>G)
c.845A>G (p.His282Arg)
c.*1706A>G (n.*1706A>G)
 gnomAD v4
19g.18868871T>GCA404862250CERS1,GDF1c.*1114A>C (n.*1114A>C)
c.845A>C (p.His282Pro)
c.*1706A>C (n.*1706A>C)
19g.18868872G>ACA404862251CERS1,GDF1c.*1113C>T (n.*1113C>T)
c.844C>T (p.His282Tyr)
c.*1705C>T (n.*1705C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868872G>CCA404862252CERS1,GDF1c.*1113C>G (n.*1113C>G)
c.844C>G (p.His282Asp)
c.*1705C>G (n.*1705C>G)
 gnomAD v4
19g.18868872G=CA2326567584CERS1,GDF1c.*1113C= (n.*1113C=)
c.844C= (p.His282=)
c.*1705C= (n.*1705C=)
19g.18868872G>TCA404862253CERS1,GDF1c.*1113C>A (n.*1113C>A)
c.844C>A (p.His282Asn)
c.*1705C>A (n.*1705C>A)
 gnomAD v4
19g.18868873C>ACA404862255CERS1,GDF1c.*1112G>T (n.*1112G>T)
c.843G>T (p.Trp281Cys)
c.*1704G>T (n.*1704G>T)
 gnomAD v4
19g.18868873C>GCA404862256CERS1,GDF1c.*1112G>C (n.*1112G>C)
c.843G>C (p.Trp281Cys)
c.*1704G>C (n.*1704G>C)
 gnomAD v4
19g.18868873C>TCA404862254CERS1,GDF1c.*1112G>A (n.*1112G>A)
c.843G>A (p.Trp281Ter)
c.*1704G>A (n.*1704G>A)
 gnomAD v4
19g.18868874delCA2583634724CERS1,GDF1c.*1112del (n.*1112del)
c.843del (p.Trp281CysfsTer?)
c.*1704del (n.*1704del)
 gnomAD v4
19g.18868874C>ACA404862257CERS1,GDF1c.*1111G>T (n.*1111G>T)
c.842G>T (p.Trp281Leu)
c.*1703G>T (n.*1703G>T)
 gnomAD v4
19g.18868874C>GCA404862259CERS1,GDF1c.*1111G>C (n.*1111G>C)
c.842G>C (p.Trp281Ser)
c.*1703G>C (n.*1703G>C)
 gnomAD v4
19g.18868874C>TCA404862258CERS1,GDF1c.*1111G>A (n.*1111G>A)
c.842G>A (p.Trp281Ter)
c.*1703G>A (n.*1703G>A)
 gnomAD v4
19g.18868875A>CCA404862260CERS1,GDF1c.*1110T>G (n.*1110T>G)
c.841T>G (p.Trp281Gly)
c.*1702T>G (n.*1702T>G)
 gnomAD v4
19g.18868875A>GCA404862262CERS1,GDF1c.*1110T>C (n.*1110T>C)
c.841T>C (p.Trp281Arg)
c.*1702T>C (n.*1702T>C)
 gnomAD v4
19g.18868875A>TCA404862261CERS1,GDF1c.*1110T>A (n.*1110T>A)
c.841T>A (p.Trp281Arg)
c.*1702T>A (n.*1702T>A)
 gnomAD v4
19g.18868876G>ACA506118263CERS1,GDF1c.*1109C>T (n.*1109C>T)
c.840C>T (p.Gly280=)
c.*1701C>T (n.*1701C>T)
 gnomAD v4
19g.18868876G>CCA506118262CERS1,GDF1c.*1109C>G (n.*1109C>G)
c.840C>G (p.Gly280=)
c.*1701C>G (n.*1701C>G)
 gnomAD v4
19g.18868876G=CA2326567585CERS1,GDF1c.*1109C= (n.*1109C=)
c.840C= (p.Gly280=)
c.*1701C= (n.*1701C=)
19g.18868876G>TCA506118260CERS1,GDF1c.*1109C>A (n.*1109C>A)
c.840C>A (p.Gly280=)
c.*1701C>A (n.*1701C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868877C>ACA404862263CERS1,GDF1c.*1108G>T (n.*1108G>T)
c.839G>T (p.Gly280Val)
c.*1700G>T (n.*1700G>T)
 gnomAD v4
19g.18868877C=CA2326567586CERS1,GDF1c.*1108G= (n.*1108G=)
c.839G= (p.Gly280=)
c.*1700G= (n.*1700G=)
19g.18868877C>GCA404862264CERS1,GDF1c.*1108G>C (n.*1108G>C)
c.839G>C (p.Gly280Ala)
c.*1700G>C (n.*1700G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868877C>TCA404862265CERS1,GDF1c.*1108G>A (n.*1108G>A)
c.839G>A (p.Gly280Asp)
c.*1700G>A (n.*1700G>A)
 gnomAD v3 gnomAD v4
19g.18868879delCA2583634725CERS1,GDF1c.*1108del (n.*1108del)
c.839del (p.Gly280AlafsTer?)
c.*1700del (n.*1700del)
 gnomAD v4
19g.18868878C>ACA404862266CERS1,GDF1c.*1107G>T (n.*1107G>T)
c.838G>T (p.Gly280Cys)
c.*1699G>T (n.*1699G>T)
 gnomAD v4
19g.18868878C>GCA404862267CERS1,GDF1c.*1107G>C (n.*1107G>C)
c.838G>C (p.Gly280Arg)
c.*1699G>C (n.*1699G>C)
19g.18868878C>TCA404862268CERS1,GDF1c.*1107G>A (n.*1107G>A)
c.838G>A (p.Gly280Ser)
c.*1699G>A (n.*1699G>A)
 gnomAD v4
19g.18868879C>ACA506118267CERS1,GDF1c.*1106G>T (n.*1106G>T)
c.837G>T (p.Val279=)
c.*1698G>T (n.*1698G>T)
 gnomAD v4
19g.18868879C=CA2326567587CERS1,GDF1c.*1106G= (n.*1106G=)
c.837G= (p.Val279=)
c.*1698G= (n.*1698G=)
19g.18868879C>GCA506118268CERS1,GDF1c.*1106G>C (n.*1106G>C)
c.837G>C (p.Val279=)
c.*1698G>C (n.*1698G>C)
19g.18868879C>TCA506118269CERS1,GDF1c.*1106G>A (n.*1106G>A)
c.837G>A (p.Val279=)
c.*1698G>A (n.*1698G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868880A>CCA404862269CERS1,GDF1c.*1105T>G (n.*1105T>G)
c.836T>G (p.Val279Gly)
c.*1697T>G (n.*1697T>G)
 gnomAD v4
19g.18868880A>GCA404862270CERS1,GDF1c.*1105T>C (n.*1105T>C)
c.836T>C (p.Val279Ala)
c.*1697T>C (n.*1697T>C)
 gnomAD v4
19g.18868880A>TCA404862271CERS1,GDF1c.*1105T>A (n.*1105T>A)
c.836T>A (p.Val279Glu)
c.*1697T>A (n.*1697T>A)
19g.18868881C>ACA404862274CERS1,GDF1c.*1104G>T (n.*1104G>T)
c.835G>T (p.Val279Leu)
c.*1696G>T (n.*1696G>T)
 gnomAD v4
19g.18868881C>GCA404862273CERS1,GDF1c.*1104G>C (n.*1104G>C)
c.835G>C (p.Val279Leu)
c.*1696G>C (n.*1696G>C)
 gnomAD v4
19g.18868881C>TCA404862272CERS1,GDF1c.*1104G>A (n.*1104G>A)
c.835G>A (p.Val279Met)
c.*1696G>A (n.*1696G>A)
 gnomAD v4
19g.18868882C>ACA404862275CERS1,GDF1c.*1103G>T (n.*1103G>T)
c.834G>T (p.Glu278Asp)
c.*1695G>T (n.*1695G>T)
 gnomAD v4
19g.18868882C=CA2326567588CERS1,GDF1c.*1103G= (n.*1103G=)
c.834G= (p.Glu278=)
c.*1695G= (n.*1695G=)
19g.18868882C>GCA9317918CERS1,GDF1c.*1103G>C (n.*1103G>C)
c.834G>C (p.Glu278Asp)
c.*1695G>C (n.*1695G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18868882C>TCA506118276CERS1,GDF1c.*1103G>A (n.*1103G>A)
c.834G>A (p.Glu278=)
c.*1695G>A (n.*1695G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868883delCA2583634726CERS1,GDF1c.*1102del (n.*1102del)
c.833del (p.Glu278GlyfsTer?)
c.*1694del (n.*1694del)
 gnomAD v4
19g.18868883T>ACA404862276CERS1,GDF1c.*1102A>T (n.*1102A>T)
c.833A>T (p.Glu278Val)
c.*1694A>T (n.*1694A>T)
 gnomAD v4
19g.18868883T>CCA404862277CERS1,GDF1c.*1102A>G (n.*1102A>G)
c.833A>G (p.Glu278Gly)
c.*1694A>G (n.*1694A>G)
 gnomAD v4
19g.18868883T>GCA404862278CERS1,GDF1c.*1102A>C (n.*1102A>C)
c.833A>C (p.Glu278Ala)
c.*1694A>C (n.*1694A>C)
19g.18868884C>ACA404862279CERS1,GDF1c.*1101G>T (n.*1101G>T)
c.832G>T (p.Glu278Ter)
c.*1693G>T (n.*1693G>T)
 gnomAD v4
19g.18868884C=CA2326567589CERS1,GDF1c.*1101G= (n.*1101G=)
c.832G= (p.Glu278=)
c.*1693G= (n.*1693G=)
19g.18868884C>GCA404862280CERS1,GDF1c.*1101G>C (n.*1101G>C)
c.832G>C (p.Glu278Gln)
c.*1693G>C (n.*1693G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868884C>TCA404862281CERS1,GDF1c.*1101G>A (n.*1101G>A)
c.832G>A (p.Glu278Lys)
c.*1693G>A (n.*1693G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868888_18868912delCA2583634727CERS1,GDF1c.*1077_*1101del (n.*1077_*1101del)
c.808_832del (p.Arg271TrpfsTer?)
c.*1669_*1693del (n.*1669_*1693del)
 gnomAD v4
19g.18868885G>ACA506118280CERS1,GDF1c.*1100C>T (n.*1100C>T)
c.831C>T (p.Arg277=)
c.*1692C>T (n.*1692C>T)
 gnomAD v4
19g.18868885G>CCA506118281CERS1,GDF1c.*1100C>G (n.*1100C>G)
c.831C>G (p.Arg277=)
c.*1692C>G (n.*1692C>G)
19g.18868885G>TCA506118282CERS1,GDF1c.*1100C>A (n.*1100C>A)
c.831C>A (p.Arg277=)
c.*1692C>A (n.*1692C>A)
 gnomAD v4
19g.18868886C>ACA404862282CERS1,GDF1c.*1099G>T (n.*1099G>T)
c.830G>T (p.Arg277Leu)
c.*1691G>T (n.*1691G>T)
 gnomAD v4
19g.18868886C=CA2326567590CERS1,GDF1c.*1099G= (n.*1099G=)
c.830G= (p.Arg277=)
c.*1691G= (n.*1691G=)
19g.18868886C>GCA404862283CERS1,GDF1c.*1099G>C (n.*1099G>C)
c.830G>C (p.Arg277Pro)
c.*1691G>C (n.*1691G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18868886C>TCA404862284CERS1,GDF1c.*1099G>A (n.*1099G>A)
c.830G>A (p.Arg277His)
c.*1691G>A (n.*1691G>A)
 ClinVar dbSNP gnomAD v4
19g.18868887G>ACA404862286CERS1,GDF1c.*1098C>T (n.*1098C>T)
c.829C>T (p.Arg277Cys)
c.*1690C>T (n.*1690C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868887G>CCA404862287CERS1,GDF1c.*1098C>G (n.*1098C>G)
c.829C>G (p.Arg277Gly)
c.*1690C>G (n.*1690C>G)
 gnomAD v4
19g.18868887G=CA2326567591CERS1,GDF1c.*1098C= (n.*1098C=)
c.829C= (p.Arg277=)
c.*1690C= (n.*1690C=)
19g.18868887G>TCA404862285CERS1,GDF1c.*1098C>A (n.*1098C>A)
c.829C>A (p.Arg277Ser)
c.*1690C>A (n.*1690C>A)
 gnomAD v4
19g.18868888G>ACA506118285CERS1,GDF1c.*1097C>T (n.*1097C>T)
c.828C>T (p.Phe276=)
c.*1689C>T (n.*1689C>T)
 gnomAD v4
19g.18868888G>CCA404862288CERS1,GDF1c.*1097C>G (n.*1097C>G)
c.828C>G (p.Phe276Leu)
c.*1689C>G (n.*1689C>G)
19g.18868888G>TCA404862289CERS1,GDF1c.*1097C>A (n.*1097C>A)
c.828C>A (p.Phe276Leu)
c.*1689C>A (n.*1689C>A)
 gnomAD v4
19g.18868889A>CCA404862290CERS1,GDF1c.*1096T>G (n.*1096T>G)
c.827T>G (p.Phe276Cys)
c.*1688T>G (n.*1688T>G)
19g.18868889A>GCA404862291CERS1,GDF1c.*1096T>C (n.*1096T>C)
c.827T>C (p.Phe276Ser)
c.*1688T>C (n.*1688T>C)
 gnomAD v4
19g.18868889A>TCA404862292CERS1,GDF1c.*1096T>A (n.*1096T>A)
c.827T>A (p.Phe276Tyr)
c.*1688T>A (n.*1688T>A)
 gnomAD v4
19g.18868890delCA2583634728CERS1,GDF1c.*1096del (n.*1096del)
c.827del (p.Phe276SerfsTer?)
c.*1688del (n.*1688del)
 gnomAD v4
19g.18868890A>CCA404862295CERS1,GDF1c.*1095T>G (n.*1095T>G)
c.826T>G (p.Phe276Val)
c.*1687T>G (n.*1687T>G)
19g.18868890A>GCA404862293CERS1,GDF1c.*1095T>C (n.*1095T>C)
c.826T>C (p.Phe276Leu)
c.*1687T>C (n.*1687T>C)
 gnomAD v4
19g.18868890A>TCA404862294CERS1,GDF1c.*1095T>A (n.*1095T>A)
c.826T>A (p.Phe276Ile)
c.*1687T>A (n.*1687T>A)
19g.18868891G>ACA506118289CERS1,GDF1c.*1094C>T (n.*1094C>T)
c.825C>T (p.Ser275=)
c.*1686C>T (n.*1686C>T)
 gnomAD v4
19g.18868891G>CCA404862296CERS1,GDF1c.*1094C>G (n.*1094C>G)
c.825C>G (p.Ser275Arg)
c.*1686C>G (n.*1686C>G)
 gnomAD v4
19g.18868891G=CA2326567592CERS1,GDF1c.*1094C= (n.*1094C=)
c.825C= (p.Ser275=)
c.*1686C= (n.*1686C=)
19g.18868891G>TCA404862297CERS1,GDF1c.*1094C>A (n.*1094C>A)
c.825C>A (p.Ser275Arg)
c.*1686C>A (n.*1686C>A)
 dbSNP gnomAD v4
19g.18868892C>ACA404862298CERS1,GDF1c.*1093G>T (n.*1093G>T)
c.824G>T (p.Ser275Ile)
c.*1685G>T (n.*1685G>T)
 gnomAD v4
19g.18868892C>GCA404862299CERS1,GDF1c.*1093G>C (n.*1093G>C)
c.824G>C (p.Ser275Thr)
c.*1685G>C (n.*1685G>C)
 gnomAD v4
19g.18868892C>TCA404862300CERS1,GDF1c.*1093G>A (n.*1093G>A)
c.824G>A (p.Ser275Asn)
c.*1685G>A (n.*1685G>A)
19g.18868893T>ACA404862301CERS1,GDF1c.*1092A>T (n.*1092A>T)
c.823A>T (p.Ser275Cys)
c.*1684A>T (n.*1684A>T)
19g.18868893T>CCA404862303CERS1,GDF1c.*1092A>G (n.*1092A>G)
c.823A>G (p.Ser275Gly)
c.*1684A>G (n.*1684A>G)
 gnomAD v4
19g.18868893T>GCA404862302CERS1,GDF1c.*1092A>C (n.*1092A>C)
c.823A>C (p.Ser275Arg)
c.*1684A>C (n.*1684A>C)
19g.18868893_18868894delinsTCCA2326567593CERS1,GDF1c.*1091_*1092delinsGA (n.*1091_*1092delinsGA)
c.822_823delinsGA (p.Val274=)
c.*1683_*1684delinsGA (n.*1683_*1684delinsGA)
19g.18868895_18868950delCA2697556433CERS1,GDF1c.*1037_*1092del (n.*1037_*1092del)
c.768_823del (p.Pro257LeufsTer?)
c.*1629_*1684del (n.*1629_*1684del)
 ClinVar
19g.18868894delCA306231623CERS1,GDF1c.*1091del (n.*1091del)
c.822del (p.Ser275AlafsTer?)
c.*1683del (n.*1683del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868894C>ACA506118294CERS1,GDF1c.*1091G>T (n.*1091G>T)
c.822G>T (p.Val274=)
c.*1683G>T (n.*1683G>T)
 gnomAD v4
19g.18868894C=CA2326567594CERS1,GDF1c.*1091G= (n.*1091G=)
c.822G= (p.Val274=)
c.*1683G= (n.*1683G=)
19g.18868894C>GCA306231629CERS1,GDF1c.*1091G>C (n.*1091G>C)
c.822G>C (p.Val274=)
c.*1683G>C (n.*1683G>C)
 dbSNP
19g.18868894C>TCA506118297CERS1,GDF1c.*1091G>A (n.*1091G>A)
c.822G>A (p.Val274=)
c.*1683G>A (n.*1683G>A)
 gnomAD v4
19g.18868895A>CCA404862304CERS1,GDF1c.*1090T>G (n.*1090T>G)
c.821T>G (p.Val274Gly)
c.*1682T>G (n.*1682T>G)
 gnomAD v4
19g.18868895A>GCA404862305CERS1,GDF1c.*1090T>C (n.*1090T>C)
c.821T>C (p.Val274Ala)
c.*1682T>C (n.*1682T>C)
 gnomAD v4
19g.18868895A>TCA404862306CERS1,GDF1c.*1090T>A (n.*1090T>A)
c.821T>A (p.Val274Glu)
c.*1682T>A (n.*1682T>A)
19g.18868896C>ACA404862307CERS1,GDF1c.*1089G>T (n.*1089G>T)
c.820G>T (p.Val274Leu)
c.*1681G>T (n.*1681G>T)
 gnomAD v4
19g.18868896C=CA2326567595CERS1,GDF1c.*1089G= (n.*1089G=)
c.820G= (p.Val274=)
c.*1681G= (n.*1681G=)
19g.18868896C>GCA404862308CERS1,GDF1c.*1089G>C (n.*1089G>C)
c.820G>C (p.Val274Leu)
c.*1681G>C (n.*1681G>C)
 dbSNP gnomAD v4
19g.18868896C>TCA404862309CERS1,GDF1c.*1089G>A (n.*1089G>A)
c.820G>A (p.Val274Met)
c.*1681G>A (n.*1681G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868897G>ACA506118301CERS1,GDF1c.*1088C>T (n.*1088C>T)
c.819C>T (p.Tyr273=)
c.*1680C>T (n.*1680C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868897G>CCA404862310CERS1,GDF1c.*1088C>G (n.*1088C>G)
c.819C>G (p.Tyr273Ter)
c.*1680C>G (n.*1680C>G)
 gnomAD v4
19g.18868897G=CA2326567596CERS1,GDF1c.*1088C= (n.*1088C=)
c.819C= (p.Tyr273=)
c.*1680C= (n.*1680C=)
19g.18868897G>TCA404862311CERS1,GDF1c.*1088C>A (n.*1088C>A)
c.819C>A (p.Tyr273Ter)
c.*1680C>A (n.*1680C>A)
 gnomAD v4
19g.18868898T>ACA404862312CERS1,GDF1c.*1087A>T (n.*1087A>T)
c.818A>T (p.Tyr273Phe)
c.*1679A>T (n.*1679A>T)
19g.18868898T>CCA404862313CERS1,GDF1c.*1087A>G (n.*1087A>G)
c.818A>G (p.Tyr273Cys)
c.*1679A>G (n.*1679A>G)
 gnomAD v4
19g.18868898T>GCA404862314CERS1,GDF1c.*1087A>C (n.*1087A>C)
c.818A>C (p.Tyr273Ser)
c.*1679A>C (n.*1679A>C)
 gnomAD v4
19g.18868899A>CCA404862316CERS1,GDF1c.*1086T>G (n.*1086T>G)
c.817T>G (p.Tyr273Asp)
c.*1678T>G (n.*1678T>G)
19g.18868899A>GCA404862317CERS1,GDF1c.*1086T>C (n.*1086T>C)
c.817T>C (p.Tyr273His)
c.*1678T>C (n.*1678T>C)
 gnomAD v4
19g.18868899A>TCA404862315CERS1,GDF1c.*1086T>A (n.*1086T>A)
c.817T>A (p.Tyr273Asn)
c.*1678T>A (n.*1678T>A)
 gnomAD v4
19g.18868902_18868917dupCA2583634729CERS1,GDF1c.*1071_*1086dup (n.*1071_*1086dup)
c.802_817dup (p.Tyr273SerfsTer?)
c.*1663_*1678dup (n.*1663_*1678dup)
 gnomAD v4
19g.18868900C>ACA506118308CERS1,GDF1c.*1085G>T (n.*1085G>T)
c.816G>T (p.Leu272=)
c.*1677G>T (n.*1677G>T)
 dbSNP gnomAD v4
19g.18868900C=CA2326567597CERS1,GDF1c.*1085G= (n.*1085G=)
c.816G= (p.Leu272=)
c.*1677G= (n.*1677G=)
19g.18868900C>GCA506118310CERS1,GDF1c.*1085G>C (n.*1085G>C)
c.816G>C (p.Leu272=)
c.*1677G>C (n.*1677G>C)
 gnomAD v4
19g.18868900C>TCA506118311CERS1,GDF1c.*1085G>A (n.*1085G>A)
c.816G>A (p.Leu272=)
c.*1677G>A (n.*1677G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868901A=CA2326567599CERS1,GDF1c.*1084T= (n.*1084T=)
c.815T= (p.Leu272=)
c.*1676T= (n.*1676T=)
19g.18868901A>CCA404862318CERS1,GDF1c.*1084T>G (n.*1084T>G)
c.815T>G (p.Leu272Arg)
c.*1676T>G (n.*1676T>G)
 dbSNP gnomAD v2 gnomAD v4
19g.18868901A>GCA404862319CERS1,GDF1c.*1084T>C (n.*1084T>C)
c.815T>C (p.Leu272Pro)
c.*1676T>C (n.*1676T>C)
 dbSNP gnomAD v4
19g.18868901A>TCA404862320CERS1,GDF1c.*1084T>A (n.*1084T>A)
c.815T>A (p.Leu272Gln)
c.*1676T>A (n.*1676T>A)
 gnomAD v4
19g.18868901_18868929delinsAGCCGCCGCGCGCGACAAGCGCCCCCGGGCA2326567598CERS1,GDF1c.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT)
c.787_815delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (p.Pro263=)
c.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT)
19g.18868902G>ACA506118314CERS1,GDF1c.*1083C>T (n.*1083C>T)
c.814C>T (p.Leu272=)
c.*1675C>T (n.*1675C>T)
 dbSNP gnomAD v4
19g.18868902G>CCA404862321CERS1,GDF1c.*1083C>G (n.*1083C>G)
c.814C>G (p.Leu272Val)
c.*1675C>G (n.*1675C>G)
19g.18868902G=CA2326567600CERS1,GDF1c.*1083C= (n.*1083C=)
c.814C= (p.Leu272=)
c.*1675C= (n.*1675C=)
19g.18868902G>TCA404862322CERS1,GDF1c.*1083C>A (n.*1083C>A)
c.814C>A (p.Leu272Met)
c.*1675C>A (n.*1675C>A)
 gnomAD v4
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.18868903C>ACA506118315CERS1,GDF1c.*1082G>T (n.*1082G>T)
c.813G>T (p.Arg271=)
c.*1674G>T (n.*1674G>T)
 gnomAD v4
19g.18868903C=CA2326567601CERS1,GDF1c.*1082G= (n.*1082G=)
c.813G= (p.Arg271=)
c.*1674G= (n.*1674G=)
19g.18868903C>GCA506118319CERS1,GDF1c.*1082G>C (n.*1082G>C)
c.813G>C (p.Arg271=)
c.*1674G>C (n.*1674G>C)
 gnomAD v4
19g.18868903C>TCA506118320CERS1,GDF1c.*1082G>A (n.*1082G>A)
c.813G>A (p.Arg271=)
c.*1674G>A (n.*1674G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868904delCA2583634730CERS1,GDF1c.*1082del (n.*1082del)
c.813del (p.Leu272CysfsTer3)
c.*1674del (n.*1674del)
 gnomAD v4
19g.18868904C>ACA404862325CERS1,GDF1c.*1081G>T (n.*1081G>T)
c.812G>T (p.Arg271Leu)
c.*1673G>T (n.*1673G>T)
 gnomAD v4
19g.18868904C=CA2326567602CERS1,GDF1c.*1081G= (n.*1081G=)
c.812G= (p.Arg271=)
c.*1673G= (n.*1673G=)
19g.18868904C>GCA404862324CERS1,GDF1c.*1081G>C (n.*1081G>C)
c.812G>C (p.Arg271Pro)
c.*1673G>C (n.*1673G>C)
 ClinVar dbSNP gnomAD v4
19g.18868904C>TCA404862323CERS1,GDF1c.*1081G>A (n.*1081G>A)
c.812G>A (p.Arg271Gln)
c.*1673G>A (n.*1673G>A)
 dbSNP gnomAD v4
19g.18868905G>ACA404862326CERS1,GDF1c.*1080C>T (n.*1080C>T)
c.811C>T (p.Arg271Trp)
c.*1672C>T (n.*1672C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18868905G>CCA404862327CERS1,GDF1c.*1080C>G (n.*1080C>G)
c.811C>G (p.Arg271Gly)
c.*1672C>G (n.*1672C>G)
19g.18868905G=CA2326567603CERS1,GDF1c.*1080C= (n.*1080C=)
c.811C= (p.Arg271=)
c.*1672C= (n.*1672C=)
19g.18868905G>TCA506118321CERS1,GDF1c.*1080C>A (n.*1080C>A)
c.811C>A (p.Arg271=)
c.*1672C>A (n.*1672C>A)
 dbSNP gnomAD v4
19g.18868906C>ACA506118322CERS1,GDF1c.*1079G>T (n.*1079G>T)
c.810G>T (p.Arg270=)
c.*1671G>T (n.*1671G>T)
 gnomAD v4
19g.18868906C=CA2326567605CERS1,GDF1c.*1079G= (n.*1079G=)
c.810G= (p.Arg270=)
c.*1671G= (n.*1671G=)
19g.18868906C>GCA506118326CERS1,GDF1c.*1079G>C (n.*1079G>C)
c.810G>C (p.Arg270=)
c.*1671G>C (n.*1671G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.18868906C>TCA506118328CERS1,GDF1c.*1079G>A (n.*1079G>A)
c.810G>A (p.Arg270=)
c.*1671G>A (n.*1671G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868906_18868908delinsCCGCA2326567604CERS1,GDF1c.*1077_*1079delinsCGG (n.*1077_*1079delinsCGG)
c.808_810delinsCGG (p.Arg270=)
c.*1669_*1671delinsCGG (n.*1669_*1671delinsCGG)
19g.18868907C>ACA404862328CERS1,GDF1c.*1078G>T (n.*1078G>T)
c.809G>T (p.Arg270Leu)
c.*1670G>T (n.*1670G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18868907C=CA2326567607CERS1,GDF1c.*1078G= (n.*1078G=)
c.809G= (p.Arg270=)
c.*1670G= (n.*1670G=)
19g.18868907C>GCA404862329CERS1,GDF1c.*1078G>C (n.*1078G>C)
c.809G>C (p.Arg270Pro)
c.*1670G>C (n.*1670G>C)
19g.18868907C>TCA404862330CERS1,GDF1c.*1078G>A (n.*1078G>A)
c.809G>A (p.Arg270Gln)
c.*1670G>A (n.*1670G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18868913_18868914delCA2326567606CERS1,GDF1c.*1077_*1078del (n.*1077_*1078del)
c.808_809del (p.Arg270AlafsTer?)
c.*1669_*1670del (n.*1669_*1670del)
 dbSNP gnomAD v4
19g.18868908G>ACA404862331CERS1,GDF1c.*1077C>T (n.*1077C>T)
c.808C>T (p.Arg270Trp)
c.*1669C>T (n.*1669C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868908G>CCA404862332CERS1,GDF1c.*1077C>G (n.*1077C>G)
c.808C>G (p.Arg270Gly)
c.*1669C>G (n.*1669C>G)
19g.18868908G=CA2326567608CERS1,GDF1c.*1077C= (n.*1077C=)
c.808C= (p.Arg270=)
c.*1669C= (n.*1669C=)
19g.18868908G>TCA506118336CERS1,GDF1c.*1077C>A (n.*1077C>A)
c.808C>A (p.Arg270=)
c.*1669C>A (n.*1669C>A)
 gnomAD v4
19g.18868909C>ACA506118339CERS1,GDF1c.*1076G>T (n.*1076G>T)
c.807G>T (p.Ala269=)
c.*1668G>T (n.*1668G>T)
 gnomAD v4
19g.18868909C>GCA506118340CERS1,GDF1c.*1076G>C (n.*1076G>C)
c.807G>C (p.Ala269=)
c.*1668G>C (n.*1668G>C)
19g.18868909C>TCA506118342CERS1,GDF1c.*1076G>A (n.*1076G>A)
c.807G>A (p.Ala269=)
c.*1668G>A (n.*1668G>A)
 gnomAD v3 gnomAD v4
19g.18868910G>ACA404862333CERS1,GDF1c.*1075C>T (n.*1075C>T)
c.806C>T (p.Ala269Val)
c.*1667C>T (n.*1667C>T)
 gnomAD v4
19g.18868910G>CCA404862335CERS1,GDF1c.*1075C>G (n.*1075C>G)
c.806C>G (p.Ala269Gly)
c.*1667C>G (n.*1667C>G)
19g.18868910G>TCA404862334CERS1,GDF1c.*1075C>A (n.*1075C>A)
c.806C>A (p.Ala269Glu)
c.*1667C>A (n.*1667C>A)
 gnomAD v4
19g.18868911C>ACA404862336CERS1,GDF1c.*1074G>T (n.*1074G>T)
c.805G>T (p.Ala269Ser)
c.*1666G>T (n.*1666G>T)
 dbSNP gnomAD v4
19g.18868911C=CA2326567609CERS1,GDF1c.*1074G= (n.*1074G=)
c.805G= (p.Ala269=)
c.*1666G= (n.*1666G=)
19g.18868911C>GCA404862337CERS1,GDF1c.*1074G>C (n.*1074G>C)
c.805G>C (p.Ala269Pro)
c.*1666G>C (n.*1666G>C)
19g.18868911C>TCA404862338CERS1,GDF1c.*1074G>A (n.*1074G>A)
c.805G>A (p.Ala269Thr)
c.*1666G>A (n.*1666G>A)
 gnomAD v4
19g.18868912G>ACA9317919CERS1,GDF1c.*1073C>T (n.*1073C>T)
c.804C>T (p.Arg268=)
c.*1665C>T (n.*1665C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18868912G>CCA506118349CERS1,GDF1c.*1073C>G (n.*1073C>G)
c.804C>G (p.Arg268=)
c.*1665C>G (n.*1665C>G)
 gnomAD v4
19g.18868912G=CA2326567610CERS1,GDF1c.*1073C= (n.*1073C=)
c.804C= (p.Arg268=)
c.*1665C= (n.*1665C=)
19g.18868912G>TCA506118348CERS1,GDF1c.*1073C>A (n.*1073C>A)
c.804C>A (p.Arg268=)
c.*1665C>A (n.*1665C>A)
 gnomAD v4
19g.18868913delCA2583634731CERS1,GDF1c.*1072del (n.*1072del)
c.803del (p.Arg268ProfsTer7)
c.*1664del (n.*1664del)
 gnomAD v4
19g.18868913C>ACA404862339CERS1,GDF1c.*1072G>T (n.*1072G>T)
c.803G>T (p.Arg268Leu)
c.*1664G>T (n.*1664G>T)
 gnomAD v4
19g.18868913C>GCA404862340CERS1,GDF1c.*1072G>C (n.*1072G>C)
c.803G>C (p.Arg268Pro)
c.*1664G>C (n.*1664G>C)
 gnomAD v4
19g.18868913C>TCA404862341CERS1,GDF1c.*1072G>A (n.*1072G>A)
c.803G>A (p.Arg268His)
c.*1664G>A (n.*1664G>A)
 gnomAD v4
19g.18868914_18868924delCA2695228498CERS1,GDF1c.*1062_*1072del (n.*1062_*1072del)
c.793_803del (p.Gly265ArgfsTer?)
c.*1654_*1664del (n.*1654_*1664del)
19g.18868914G>ACA404862342CERS1,GDF1c.*1071C>T (n.*1071C>T)
c.802C>T (p.Arg268Cys)
c.*1663C>T (n.*1663C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18868914G>CCA404862343CERS1,GDF1c.*1071C>G (n.*1071C>G)
c.802C>G (p.Arg268Gly)
c.*1663C>G (n.*1663C>G)
19g.18868914G=CA2326567611CERS1,GDF1c.*1071C= (n.*1071C=)
c.802C= (p.Arg268=)
c.*1663C= (n.*1663C=)
19g.18868914G>TCA404862344CERS1,GDF1c.*1071C>A (n.*1071C>A)
c.802C>A (p.Arg268Ser)
c.*1663C>A (n.*1663C>A)
 gnomAD v4
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.18868915delCA2583634732CERS1,GDF1c.*1070del (n.*1070del)
c.801del (p.Arg268AlafsTer7)
c.*1662del (n.*1662del)
 gnomAD v4
19g.18868915A>CCA404862345CERS1,GDF1c.*1070T>G (n.*1070T>G)
c.801T>G (p.Cys267Trp)
c.*1662T>G (n.*1662T>G)
19g.18868915A>GCA506118367CERS1,GDF1c.*1070T>C (n.*1070T>C)
c.801T>C (p.Cys267=)
c.*1662T>C (n.*1662T>C)
 gnomAD v4
19g.18868915A>TCA404862346CERS1,GDF1c.*1070T>A (n.*1070T>A)
c.801T>A (p.Cys267Ter)
c.*1662T>A (n.*1662T>A)
19g.18868915_18868916insACAAGCGCCCCCGGGGCCGCCGCCCACA920074473CERS1,GDF1c.*1070_*1071insGGGCGGCGGCCCCGGGGGCGCTTGTT (n.*1070_*1071insGGGCGGCGGCCCCGGGGGCGCTTGTT)
c.801_802insGGGCGGCGGCCCCGGGGGCGCTTGTT (p.Arg268GlyfsTer16)
c.*1662_*1663insGGGCGGCGGCCCCGGGGGCGCTTGTT (n.*1662_*1663insGGGCGGCGGCCCCGGGGGCGCTTGTT)
 dbSNP
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.18868916C>ACA404862347CERS1,GDF1c.*1069G>T (n.*1069G>T)
c.800G>T (p.Cys267Phe)
c.*1661G>T (n.*1661G>T)
 gnomAD v4
19g.18868916C=CA2326567613CERS1,GDF1c.*1069G= (n.*1069G=)
c.800G= (p.Cys267=)
c.*1661G= (n.*1661G=)
19g.18868916C>GCA404862348CERS1,GDF1c.*1069G>C (n.*1069G>C)
c.800G>C (p.Cys267Ser)
c.*1661G>C (n.*1661G>C)
19g.18868916C>TCA118484CERS1,GDF1c.*1069G>A (n.*1069G>A)
c.800G>A (p.Cys267Tyr)
c.*1661G>A (n.*1661G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868917A>CCA404862349CERS1,GDF1c.*1068T>G (n.*1068T>G)
c.799T>G (p.Cys267Gly)
c.*1660T>G (n.*1660T>G)
19g.18868917A>GCA404862350CERS1,GDF1c.*1068T>C (n.*1068T>C)
c.799T>C (p.Cys267Arg)
c.*1660T>C (n.*1660T>C)
 gnomAD v4
19g.18868917A>TCA404862351CERS1,GDF1c.*1068T>A (n.*1068T>A)
c.799T>A (p.Cys267Ser)
c.*1660T>A (n.*1660T>A)
19g.18868918A>CCA506118379CERS1,GDF1c.*1067T>G (n.*1067T>G)
c.798T>G (p.Ala266=)
c.*1659T>G (n.*1659T>G)
 gnomAD v4
19g.18868918A>GCA506118381CERS1,GDF1c.*1067T>C (n.*1067T>C)
c.798T>C (p.Ala266=)
c.*1659T>C (n.*1659T>C)
 gnomAD v4
19g.18868918A>TCA506118383CERS1,GDF1c.*1067T>A (n.*1067T>A)
c.798T>A (p.Ala266=)
c.*1659T>A (n.*1659T>A)
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

Number of alleles fetched