Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18868819C>A | CA404862131 | CERS1,GDF1 | c.*1166G>T (n.*1166G>T) c.897G>T (p.Gln299His) c.*1758G>T (n.*1758G>T) | gnomAD v4 |
19 | g.18868819C>G | CA404862132 | CERS1,GDF1 | c.*1166G>C (n.*1166G>C) c.897G>C (p.Gln299His) c.*1758G>C (n.*1758G>C) | |
19 | g.18868819C>T | CA506118154 | CERS1,GDF1 | c.*1166G>A (n.*1166G>A) c.897G>A (p.Gln299=) c.*1758G>A (n.*1758G>A) | gnomAD v4 |
19 | g.18868820T>A | CA404862133 | CERS1,GDF1 | c.*1165A>T (n.*1165A>T) c.896A>T (p.Gln299Leu) c.*1757A>T (n.*1757A>T) | |
19 | g.18868820T>C | CA404862134 | CERS1,GDF1 | c.*1165A>G (n.*1165A>G) c.896A>G (p.Gln299Arg) c.*1757A>G (n.*1757A>G) | gnomAD v4 |
19 | g.18868820T>G | CA404862135 | CERS1,GDF1 | c.*1165A>C (n.*1165A>C) c.896A>C (p.Gln299Pro) c.*1757A>C (n.*1757A>C) | |
19 | g.18868821G>A | CA404862136 | CERS1,GDF1 | c.*1164C>T (n.*1164C>T) c.895C>T (p.Gln299Ter) c.*1756C>T (n.*1756C>T) | gnomAD v4 |
19 | g.18868821G>C | CA404862137 | CERS1,GDF1 | c.*1164C>G (n.*1164C>G) c.895C>G (p.Gln299Glu) c.*1756C>G (n.*1756C>G) | gnomAD v4 |
19 | g.18868821G>T | CA404862138 | CERS1,GDF1 | c.*1164C>A (n.*1164C>A) c.895C>A (p.Gln299Lys) c.*1756C>A (n.*1756C>A) | gnomAD v4 |
19 | g.18868822A>C | CA506118159 | CERS1,GDF1 | c.*1163T>G (n.*1163T>G) c.894T>G (p.Gly298=) c.*1755T>G (n.*1755T>G) | |
19 | g.18868822A>G | CA506118160 | CERS1,GDF1 | c.*1163T>C (n.*1163T>C) c.894T>C (p.Gly298=) c.*1755T>C (n.*1755T>C) | gnomAD v4 |
19 | g.18868822A>T | CA506118161 | CERS1,GDF1 | c.*1163T>A (n.*1163T>A) c.894T>A (p.Gly298=) c.*1755T>A (n.*1755T>A) | |
19 | g.18868823C>A | CA404862141 | CERS1,GDF1 | c.*1162G>T (n.*1162G>T) c.893G>T (p.Gly298Val) c.*1754G>T (n.*1754G>T) | gnomAD v4 |
19 | g.18868823C= | CA2326567557 | CERS1,GDF1 | c.*1162G= (n.*1162G=) c.893G= (p.Gly298=) c.*1754G= (n.*1754G=) | |
19 | g.18868823C>G | CA404862139 | CERS1,GDF1 | c.*1162G>C (n.*1162G>C) c.893G>C (p.Gly298Ala) c.*1754G>C (n.*1754G>C) | gnomAD v4 |
19 | g.18868823C>T | CA404862140 | CERS1,GDF1 | c.*1162G>A (n.*1162G>A) c.893G>A (p.Gly298Asp) c.*1754G>A (n.*1754G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868824C>A | CA404862142 | CERS1,GDF1 | c.*1161G>T (n.*1161G>T) c.892G>T (p.Gly298Cys) c.*1753G>T (n.*1753G>T) | gnomAD v4 |
19 | g.18868824C= | CA2326567558 | CERS1,GDF1 | c.*1161G= (n.*1161G=) c.892G= (p.Gly298=) c.*1753G= (n.*1753G=) | |
19 | g.18868824C>G | CA404862143 | CERS1,GDF1 | c.*1161G>C (n.*1161G>C) c.892G>C (p.Gly298Arg) c.*1753G>C (n.*1753G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868824C>T | CA404862144 | CERS1,GDF1 | c.*1161G>A (n.*1161G>A) c.892G>A (p.Gly298Ser) c.*1753G>A (n.*1753G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868825C>A | CA404862145 | CERS1,GDF1 | c.*1160G>T (n.*1160G>T) c.891G>T (p.Gln297His) c.*1752G>T (n.*1752G>T) | gnomAD v4 |
19 | g.18868825C= | CA2326567559 | CERS1,GDF1 | c.*1160G= (n.*1160G=) c.891G= (p.Gln297=) c.*1752G= (n.*1752G=) | |
19 | g.18868825C>G | CA404862146 | CERS1,GDF1 | c.*1160G>C (n.*1160G>C) c.891G>C (p.Gln297His) c.*1752G>C (n.*1752G>C) | ClinVar dbSNP gnomAD v4 |
19 | g.18868825C>T | CA306231609 | CERS1,GDF1 | c.*1160G>A (n.*1160G>A) c.891G>A (p.Gln297=) c.*1752G>A (n.*1752G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868826T>A | CA404862147 | CERS1,GDF1 | c.*1159A>T (n.*1159A>T) c.890A>T (p.Gln297Leu) c.*1751A>T (n.*1751A>T) | |
19 | g.18868826T>C | CA404862149 | CERS1,GDF1 | c.*1159A>G (n.*1159A>G) c.890A>G (p.Gln297Arg) c.*1751A>G (n.*1751A>G) | dbSNP gnomAD v4 |
19 | g.18868826T>G | CA404862148 | CERS1,GDF1 | c.*1159A>C (n.*1159A>C) c.890A>C (p.Gln297Pro) c.*1751A>C (n.*1751A>C) | |
19 | g.18868826T= | CA2326567560 | CERS1,GDF1 | c.*1159A= (n.*1159A=) c.890A= (p.Gln297=) c.*1751A= (n.*1751A=) | |
19 | g.18868827G>A | CA404862150 | CERS1,GDF1 | c.*1158C>T (n.*1158C>T) c.889C>T (p.Gln297Ter) c.*1750C>T (n.*1750C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868827G>C | CA404862151 | CERS1,GDF1 | c.*1158C>G (n.*1158C>G) c.889C>G (p.Gln297Glu) c.*1750C>G (n.*1750C>G) | gnomAD v4 |
19 | g.18868827G= | CA2326567561 | CERS1,GDF1 | c.*1158C= (n.*1158C=) c.889C= (p.Gln297=) c.*1750C= (n.*1750C=) | |
19 | g.18868827G>T | CA404862152 | CERS1,GDF1 | c.*1158C>A (n.*1158C>A) c.889C>A (p.Gln297Lys) c.*1750C>A (n.*1750C>A) | gnomAD v4 |
19 | g.18868828del | CA2583634715 | CERS1,GDF1 | c.*1158del (n.*1158del) c.889del (p.Gln297ArgfsTer?) c.*1750del (n.*1750del) | gnomAD v4 |
19 | g.18868828G>A | CA506118167 | CERS1,GDF1 | c.*1157C>T (n.*1157C>T) c.888C>T (p.Cys296=) c.*1749C>T (n.*1749C>T) | dbSNP gnomAD v4 |
19 | g.18868828G>C | CA404862153 | CERS1,GDF1 | c.*1157C>G (n.*1157C>G) c.888C>G (p.Cys296Trp) c.*1749C>G (n.*1749C>G) | dbSNP gnomAD v4 |
19 | g.18868828G= | CA2326567562 | CERS1,GDF1 | c.*1157C= (n.*1157C=) c.888C= (p.Cys296=) c.*1749C= (n.*1749C=) | |
19 | g.18868828G>T | CA404862154 | CERS1,GDF1 | c.*1157C>A (n.*1157C>A) c.888C>A (p.Cys296Ter) c.*1749C>A (n.*1749C>A) | gnomAD v4 |
19 | g.18868829C>A | CA404862155 | CERS1,GDF1 | c.*1156G>T (n.*1156G>T) c.887G>T (p.Cys296Phe) c.*1748G>T (n.*1748G>T) | gnomAD v4 |
19 | g.18868829C>G | CA404862156 | CERS1,GDF1 | c.*1156G>C (n.*1156G>C) c.887G>C (p.Cys296Ser) c.*1748G>C (n.*1748G>C) | |
19 | g.18868829C>T | CA404862157 | CERS1,GDF1 | c.*1156G>A (n.*1156G>A) c.887G>A (p.Cys296Tyr) c.*1748G>A (n.*1748G>A) | gnomAD v4 |
19 | g.18868830A>C | CA404862158 | CERS1,GDF1 | c.*1155T>G (n.*1155T>G) c.886T>G (p.Cys296Gly) c.*1747T>G (n.*1747T>G) | |
19 | g.18868830A>G | CA404862159 | CERS1,GDF1 | c.*1155T>C (n.*1155T>C) c.886T>C (p.Cys296Arg) c.*1747T>C (n.*1747T>C) | gnomAD v4 |
19 | g.18868830A>T | CA404862160 | CERS1,GDF1 | c.*1155T>A (n.*1155T>A) c.886T>A (p.Cys296Ser) c.*1747T>A (n.*1747T>A) | gnomAD v4 |
19 | g.18868831G>A | CA506118171 | CERS1,GDF1 | c.*1154C>T (n.*1154C>T) c.885C>T (p.Tyr295=) c.*1746C>T (n.*1746C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868831G>C | CA404862162 | CERS1,GDF1 | c.*1154C>G (n.*1154C>G) c.885C>G (p.Tyr295Ter) c.*1746C>G (n.*1746C>G) | gnomAD v4 |
19 | g.18868831G= | CA2326567563 | CERS1,GDF1 | c.*1154C= (n.*1154C=) c.885C= (p.Tyr295=) c.*1746C= (n.*1746C=) | |
19 | g.18868831G>T | CA404862161 | CERS1,GDF1 | c.*1154C>A (n.*1154C>A) c.885C>A (p.Tyr295Ter) c.*1746C>A (n.*1746C>A) | gnomAD v4 |
19 | g.18868832T>A | CA404862163 | CERS1,GDF1 | c.*1153A>T (n.*1153A>T) c.884A>T (p.Tyr295Phe) c.*1745A>T (n.*1745A>T) | |
19 | g.18868832T>C | CA404862164 | CERS1,GDF1 | c.*1153A>G (n.*1153A>G) c.884A>G (p.Tyr295Cys) c.*1745A>G (n.*1745A>G) | gnomAD v4 |
19 | g.18868832T>G | CA404862165 | CERS1,GDF1 | c.*1153A>C (n.*1153A>C) c.884A>C (p.Tyr295Ser) c.*1745A>C (n.*1745A>C) | |
19 | g.18868833A= | CA2326567564 | CERS1,GDF1 | c.*1152T= (n.*1152T=) c.883T= (p.Tyr295=) c.*1744T= (n.*1744T=) | |
19 | g.18868833A>C | CA404862166 | CERS1,GDF1 | c.*1152T>G (n.*1152T>G) c.883T>G (p.Tyr295Asp) c.*1744T>G (n.*1744T>G) | |
19 | g.18868833A>G | CA404862167 | CERS1,GDF1 | c.*1152T>C (n.*1152T>C) c.883T>C (p.Tyr295His) c.*1744T>C (n.*1744T>C) | gnomAD v4 |
19 | g.18868833A>T | CA404862168 | CERS1,GDF1 | c.*1152T>A (n.*1152T>A) c.883T>A (p.Tyr295Asn) c.*1744T>A (n.*1744T>A) | ClinVar dbSNP |
19 | g.18868834G>A | CA506118178 | CERS1,GDF1 | c.*1151C>T (n.*1151C>T) c.882C>T (p.Asn294=) c.*1743C>T (n.*1743C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868834G>C | CA404862170 | CERS1,GDF1 | c.*1151C>G (n.*1151C>G) c.882C>G (p.Asn294Lys) c.*1743C>G (n.*1743C>G) | |
19 | g.18868834G= | CA2326567565 | CERS1,GDF1 | c.*1151C= (n.*1151C=) c.882C= (p.Asn294=) c.*1743C= (n.*1743C=) | |
19 | g.18868834G>T | CA404862169 | CERS1,GDF1 | c.*1151C>A (n.*1151C>A) c.882C>A (p.Asn294Lys) c.*1743C>A (n.*1743C>A) | gnomAD v4 |
19 | g.18868835_18868837del | CA2583634716 | CERS1,GDF1 | c.*1149_*1151del (n.*1149_*1151del) c.880_882del (p.Asn294del) c.*1741_*1743del (n.*1741_*1743del) | gnomAD v4 |
19 | g.18868835T>A | CA404862171 | CERS1,GDF1 | c.*1150A>T (n.*1150A>T) c.881A>T (p.Asn294Ile) c.*1742A>T (n.*1742A>T) | |
19 | g.18868835T>C | CA404862172 | CERS1,GDF1 | c.*1150A>G (n.*1150A>G) c.881A>G (p.Asn294Ser) c.*1742A>G (n.*1742A>G) | gnomAD v4 |
19 | g.18868835T>G | CA404862173 | CERS1,GDF1 | c.*1150A>C (n.*1150A>C) c.881A>C (p.Asn294Thr) c.*1742A>C (n.*1742A>C) | |
19 | g.18868836T>A | CA404862174 | CERS1,GDF1 | c.*1149A>T (n.*1149A>T) c.880A>T (p.Asn294Tyr) c.*1741A>T (n.*1741A>T) | |
19 | g.18868836T>C | CA404862175 | CERS1,GDF1 | c.*1149A>G (n.*1149A>G) c.880A>G (p.Asn294Asp) c.*1741A>G (n.*1741A>G) | |
19 | g.18868836T>G | CA404862176 | CERS1,GDF1 | c.*1149A>C (n.*1149A>C) c.880A>C (p.Asn294His) c.*1741A>C (n.*1741A>C) | |
19 | g.18868836_18868837delinsTG | CA2326567566 | CERS1,GDF1 | c.*1148_*1149delinsCA (n.*1148_*1149delinsCA) c.879_880delinsCA (p.Ala293=) c.*1740_*1741delinsCA (n.*1740_*1741delinsCA) | |
19 | g.18868837G>A | CA506118185 | CERS1,GDF1 | c.*1148C>T (n.*1148C>T) c.879C>T (p.Ala293=) c.*1740C>T (n.*1740C>T) | gnomAD v4 |
19 | g.18868837G>C | CA506118186 | CERS1,GDF1 | c.*1148C>G (n.*1148C>G) c.879C>G (p.Ala293=) c.*1740C>G (n.*1740C>G) | |
19 | g.18868837G>T | CA506118187 | CERS1,GDF1 | c.*1148C>A (n.*1148C>A) c.879C>A (p.Ala293=) c.*1740C>A (n.*1740C>A) | gnomAD v4 |
19 | g.18868838del | CA632627029 | CERS1,GDF1 | c.*1148del (n.*1148del) c.879del (p.Asn294ThrfsTer?) c.*1740del (n.*1740del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868838G>A | CA404862179 | CERS1,GDF1 | c.*1147C>T (n.*1147C>T) c.878C>T (p.Ala293Val) c.*1739C>T (n.*1739C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868838G>C | CA404862177 | CERS1,GDF1 | c.*1147C>G (n.*1147C>G) c.878C>G (p.Ala293Gly) c.*1739C>G (n.*1739C>G) | gnomAD v4 |
19 | g.18868838G= | CA2326567567 | CERS1,GDF1 | c.*1147C= (n.*1147C=) c.878C= (p.Ala293=) c.*1739C= (n.*1739C=) | |
19 | g.18868838G>T | CA404862178 | CERS1,GDF1 | c.*1147C>A (n.*1147C>A) c.878C>A (p.Ala293Asp) c.*1739C>A (n.*1739C>A) | gnomAD v4 |
19 | g.18868841_18868848del | CA2583634717 | CERS1,GDF1 | c.*1140_*1147del (n.*1140_*1147del) c.871_878del (p.Phe291GlnfsTer?) c.*1732_*1739del (n.*1732_*1739del) | gnomAD v4 |
19 | g.18868839C>A | CA404862180 | CERS1,GDF1 | c.*1146G>T (n.*1146G>T) c.877G>T (p.Ala293Ser) c.*1738G>T (n.*1738G>T) | gnomAD v4 |
19 | g.18868839C= | CA2326567568 | CERS1,GDF1 | c.*1146G= (n.*1146G=) c.877G= (p.Ala293=) c.*1738G= (n.*1738G=) | |
19 | g.18868839C>G | CA404862181 | CERS1,GDF1 | c.*1146G>C (n.*1146G>C) c.877G>C (p.Ala293Pro) c.*1738G>C (n.*1738G>C) | gnomAD v4 |
19 | g.18868839C>T | CA404862182 | CERS1,GDF1 | c.*1146G>A (n.*1146G>A) c.877G>A (p.Ala293Thr) c.*1738G>A (n.*1738G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868840del | CA2583634718 | CERS1,GDF1 | c.*1146del (n.*1146del) c.877del (p.Ala293ProfsTer?) c.*1738del (n.*1738del) | gnomAD v4 |
19 | g.18868840C>A | CA506118190 | CERS1,GDF1 | c.*1145G>T (n.*1145G>T) c.876G>T (p.Leu292=) c.*1737G>T (n.*1737G>T) | gnomAD v4 |
19 | g.18868840C= | CA2326567569 | CERS1,GDF1 | c.*1145G= (n.*1145G=) c.876G= (p.Leu292=) c.*1737G= (n.*1737G=) | |
19 | g.18868840C>G | CA506118192 | CERS1,GDF1 | c.*1145G>C (n.*1145G>C) c.876G>C (p.Leu292=) c.*1737G>C (n.*1737G>C) | gnomAD v4 |
19 | g.18868840C>T | CA306231618 | CERS1,GDF1 | c.*1145G>A (n.*1145G>A) c.876G>A (p.Leu292=) c.*1737G>A (n.*1737G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868841del | CA2583634719 | CERS1,GDF1 | c.*1144del (n.*1144del) c.875del (p.Leu292ArgfsTer?) c.*1736del (n.*1736del) | gnomAD v4 |
19 | g.18868841A= | CA2326567570 | CERS1,GDF1 | c.*1144T= (n.*1144T=) c.875T= (p.Leu292=) c.*1736T= (n.*1736T=) | |
19 | g.18868841A>C | CA404862183 | CERS1,GDF1 | c.*1144T>G (n.*1144T>G) c.875T>G (p.Leu292Arg) c.*1736T>G (n.*1736T>G) | |
19 | g.18868841A>G | CA404862184 | CERS1,GDF1 | c.*1144T>C (n.*1144T>C) c.875T>C (p.Leu292Pro) c.*1736T>C (n.*1736T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868841A>T | CA404862185 | CERS1,GDF1 | c.*1144T>A (n.*1144T>A) c.875T>A (p.Leu292Gln) c.*1736T>A (n.*1736T>A) | gnomAD v3 gnomAD v4 |
19 | g.18868842G>A | CA506118197 | CERS1,GDF1 | c.*1143C>T (n.*1143C>T) c.874C>T (p.Leu292=) c.*1735C>T (n.*1735C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868842G>C | CA404862186 | CERS1,GDF1 | c.*1143C>G (n.*1143C>G) c.874C>G (p.Leu292Val) c.*1735C>G (n.*1735C>G) | dbSNP gnomAD v4 |
19 | g.18868842G= | CA2326567571 | CERS1,GDF1 | c.*1143C= (n.*1143C=) c.874C= (p.Leu292=) c.*1735C= (n.*1735C=) | |
19 | g.18868842G>T | CA404862187 | CERS1,GDF1 | c.*1143C>A (n.*1143C>A) c.874C>A (p.Leu292Met) c.*1735C>A (n.*1735C>A) | gnomAD v4 |
19 | g.18868843G>A | CA506118198 | CERS1,GDF1 | c.*1142C>T (n.*1142C>T) c.873C>T (p.Phe291=) c.*1734C>T (n.*1734C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868843G>C | CA404862188 | CERS1,GDF1 | c.*1142C>G (n.*1142C>G) c.873C>G (p.Phe291Leu) c.*1734C>G (n.*1734C>G) | |
19 | g.18868843G= | CA2326567572 | CERS1,GDF1 | c.*1142C= (n.*1142C=) c.873C= (p.Phe291=) c.*1734C= (n.*1734C=) | |
19 | g.18868843G>T | CA404862189 | CERS1,GDF1 | c.*1142C>A (n.*1142C>A) c.873C>A (p.Phe291Leu) c.*1734C>A (n.*1734C>A) | gnomAD v4 |
19 | g.18868844A= | CA2326567573 | CERS1,GDF1 | c.*1141T= (n.*1141T=) c.872T= (p.Phe291=) c.*1733T= (n.*1733T=) | |
19 | g.18868844A>C | CA404862190 | CERS1,GDF1 | c.*1141T>G (n.*1141T>G) c.872T>G (p.Phe291Cys) c.*1733T>G (n.*1733T>G) | |
19 | g.18868844A>G | CA404862191 | CERS1,GDF1 | c.*1141T>C (n.*1141T>C) c.872T>C (p.Phe291Ser) c.*1733T>C (n.*1733T>C) | dbSNP gnomAD v4 |
19 | g.18868844A>T | CA404862192 | CERS1,GDF1 | c.*1141T>A (n.*1141T>A) c.872T>A (p.Phe291Tyr) c.*1733T>A (n.*1733T>A) | |
19 | g.18868845del | CA2583634720 | CERS1,GDF1 | c.*1141del (n.*1141del) c.872del (p.Phe291SerfsTer?) c.*1733del (n.*1733del) | gnomAD v4 |
19 | g.18868845A= | CA2326567574 | CERS1,GDF1 | c.*1140T= (n.*1140T=) c.871T= (p.Phe291=) c.*1732T= (n.*1732T=) | |
19 | g.18868845A>C | CA404862195 | CERS1,GDF1 | c.*1140T>G (n.*1140T>G) c.871T>G (p.Phe291Val) c.*1732T>G (n.*1732T>G) | gnomAD v4 |
19 | g.18868845A>G | CA404862193 | CERS1,GDF1 | c.*1140T>C (n.*1140T>C) c.871T>C (p.Phe291Leu) c.*1732T>C (n.*1732T>C) | gnomAD v4 |
19 | g.18868845A>T | CA404862194 | CERS1,GDF1 | c.*1140T>A (n.*1140T>A) c.871T>A (p.Phe291Ile) c.*1732T>A (n.*1732T>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868846G>A | CA506118204 | CERS1,GDF1 | c.*1139C>T (n.*1139C>T) c.870C>T (p.Gly290=) c.*1731C>T (n.*1731C>T) | gnomAD v4 |
19 | g.18868846G>C | CA506118205 | CERS1,GDF1 | c.*1139C>G (n.*1139C>G) c.870C>G (p.Gly290=) c.*1731C>G (n.*1731C>G) | |
19 | g.18868846G>T | CA506118206 | CERS1,GDF1 | c.*1139C>A (n.*1139C>A) c.870C>A (p.Gly290=) c.*1731C>A (n.*1731C>A) | gnomAD v4 |
19 | g.18868847C>A | CA404862196 | CERS1,GDF1 | c.*1138G>T (n.*1138G>T) c.869G>T (p.Gly290Val) c.*1730G>T (n.*1730G>T) | gnomAD v4 |
19 | g.18868847C>G | CA404862198 | CERS1,GDF1 | c.*1138G>C (n.*1138G>C) c.869G>C (p.Gly290Ala) c.*1730G>C (n.*1730G>C) | |
19 | g.18868847C>T | CA404862197 | CERS1,GDF1 | c.*1138G>A (n.*1138G>A) c.869G>A (p.Gly290Asp) c.*1730G>A (n.*1730G>A) | gnomAD v4 |
19 | g.18868848C>A | CA306231619 | CERS1,GDF1 | c.*1137G>T (n.*1137G>T) c.868G>T (p.Gly290Cys) c.*1729G>T (n.*1729G>T) | dbSNP gnomAD v4 |
19 | g.18868848C= | CA2326567575 | CERS1,GDF1 | c.*1137G= (n.*1137G=) c.868G= (p.Gly290=) c.*1729G= (n.*1729G=) | |
19 | g.18868848C>G | CA404862199 | CERS1,GDF1 | c.*1137G>C (n.*1137G>C) c.868G>C (p.Gly290Arg) c.*1729G>C (n.*1729G>C) | gnomAD v4 |
19 | g.18868848C>T | CA404862200 | CERS1,GDF1 | c.*1137G>A (n.*1137G>A) c.868G>A (p.Gly290Ser) c.*1729G>A (n.*1729G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868854_18868914del | CA2583634721 | CERS1,GDF1 | c.*1077_*1137del (n.*1077_*1137del) c.808_868del (p.Arg270AlafsTer?) c.*1669_*1729del (n.*1669_*1729del) | gnomAD v4 |
19 | g.18868849G>A | CA506118212 | CERS1,GDF1 | c.*1136C>T (n.*1136C>T) c.867C>T (p.Arg289=) c.*1728C>T (n.*1728C>T) | gnomAD v3 gnomAD v4 |
19 | g.18868849G>C | CA506118215 | CERS1,GDF1 | c.*1136C>G (n.*1136C>G) c.867C>G (p.Arg289=) c.*1728C>G (n.*1728C>G) | |
19 | g.18868849G>T | CA506118213 | CERS1,GDF1 | c.*1136C>A (n.*1136C>A) c.867C>A (p.Arg289=) c.*1728C>A (n.*1728C>A) | gnomAD v4 |
19 | g.18868850C>A | CA404862201 | CERS1,GDF1 | c.*1135G>T (n.*1135G>T) c.866G>T (p.Arg289Leu) c.*1727G>T (n.*1727G>T) | gnomAD v4 |
19 | g.18868850C>G | CA404862202 | CERS1,GDF1 | c.*1135G>C (n.*1135G>C) c.866G>C (p.Arg289Pro) c.*1727G>C (n.*1727G>C) | |
19 | g.18868850C>T | CA404862203 | CERS1,GDF1 | c.*1135G>A (n.*1135G>A) c.866G>A (p.Arg289His) c.*1727G>A (n.*1727G>A) | gnomAD v4 |
19 | g.18868851G>A | CA404862204 | CERS1,GDF1 | c.*1134C>T (n.*1134C>T) c.865C>T (p.Arg289Cys) c.*1726C>T (n.*1726C>T) | gnomAD v4 |
19 | g.18868851G>C | CA404862205 | CERS1,GDF1 | c.*1134C>G (n.*1134C>G) c.865C>G (p.Arg289Gly) c.*1726C>G (n.*1726C>G) | gnomAD v4 |
19 | g.18868851G>T | CA404862206 | CERS1,GDF1 | c.*1134C>A (n.*1134C>A) c.865C>A (p.Arg289Ser) c.*1726C>A (n.*1726C>A) | gnomAD v4 |
19 | g.18868852C>A | CA506118219 | CERS1,GDF1 | c.*1133G>T (n.*1133G>T) c.864G>T (p.Pro288=) c.*1725G>T (n.*1725G>T) | dbSNP gnomAD v4 |
19 | g.18868852C= | CA2326567576 | CERS1,GDF1 | c.*1133G= (n.*1133G=) c.864G= (p.Pro288=) c.*1725G= (n.*1725G=) | |
19 | g.18868852C>G | CA506118220 | CERS1,GDF1 | c.*1133G>C (n.*1133G>C) c.864G>C (p.Pro288=) c.*1725G>C (n.*1725G>C) | gnomAD v4 |
19 | g.18868852C>T | CA506118222 | CERS1,GDF1 | c.*1133G>A (n.*1133G>A) c.864G>A (p.Pro288=) c.*1725G>A (n.*1725G>A) | ClinVar gnomAD v3 gnomAD v4 |
19 | g.18868853G>A | CA404862207 | CERS1,GDF1 | c.*1132C>T (n.*1132C>T) c.863C>T (p.Pro288Leu) c.*1724C>T (n.*1724C>T) | gnomAD v4 |
19 | g.18868853G>C | CA404862208 | CERS1,GDF1 | c.*1132C>G (n.*1132C>G) c.863C>G (p.Pro288Arg) c.*1724C>G (n.*1724C>G) | |
19 | g.18868853G>T | CA404862209 | CERS1,GDF1 | c.*1132C>A (n.*1132C>A) c.863C>A (p.Pro288Gln) c.*1724C>A (n.*1724C>A) | gnomAD v4 |
19 | g.18868854G>A | CA404862210 | CERS1,GDF1 | c.*1131C>T (n.*1131C>T) c.862C>T (p.Pro288Ser) c.*1723C>T (n.*1723C>T) | gnomAD v4 |
19 | g.18868854G>C | CA404862212 | CERS1,GDF1 | c.*1131C>G (n.*1131C>G) c.862C>G (p.Pro288Ala) c.*1723C>G (n.*1723C>G) | gnomAD v4 |
19 | g.18868854G>T | CA404862211 | CERS1,GDF1 | c.*1131C>A (n.*1131C>A) c.862C>A (p.Pro288Thr) c.*1723C>A (n.*1723C>A) | gnomAD v4 |
19 | g.18868855C>A | CA506118226 | CERS1,GDF1 | c.*1130G>T (n.*1130G>T) c.861G>T (p.Ala287=) c.*1722G>T (n.*1722G>T) | gnomAD v4 |
19 | g.18868855C>G | CA506118227 | CERS1,GDF1 | c.*1130G>C (n.*1130G>C) c.861G>C (p.Ala287=) c.*1722G>C (n.*1722G>C) | |
19 | g.18868855C>T | CA506118228 | CERS1,GDF1 | c.*1130G>A (n.*1130G>A) c.861G>A (p.Ala287=) c.*1722G>A (n.*1722G>A) | gnomAD v4 |
19 | g.18868856G>A | CA9317917 | CERS1,GDF1 | c.*1129C>T (n.*1129C>T) c.860C>T (p.Ala287Val) c.*1721C>T (n.*1721C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868856G>C | CA404862213 | CERS1,GDF1 | c.*1129C>G (n.*1129C>G) c.860C>G (p.Ala287Gly) c.*1721C>G (n.*1721C>G) | |
19 | g.18868856G= | CA2326567577 | CERS1,GDF1 | c.*1129C= (n.*1129C=) c.860C= (p.Ala287=) c.*1721C= (n.*1721C=) | |
19 | g.18868856G>T | CA404862214 | CERS1,GDF1 | c.*1129C>A (n.*1129C>A) c.860C>A (p.Ala287Glu) c.*1721C>A (n.*1721C>A) | gnomAD v4 |
19 | g.18868857C>A | CA404862215 | CERS1,GDF1 | c.*1128G>T (n.*1128G>T) c.859G>T (p.Ala287Ser) c.*1720G>T (n.*1720G>T) | gnomAD v4 |
19 | g.18868857C>G | CA404862216 | CERS1,GDF1 | c.*1128G>C (n.*1128G>C) c.859G>C (p.Ala287Pro) c.*1720G>C (n.*1720G>C) | |
19 | g.18868857C>T | CA404862217 | CERS1,GDF1 | c.*1128G>A (n.*1128G>A) c.859G>A (p.Ala287Thr) c.*1720G>A (n.*1720G>A) | gnomAD v4 |
19 | g.18868858G>A | CA506118235 | CERS1,GDF1 | c.*1127C>T (n.*1127C>T) c.858C>T (p.Ile286=) c.*1719C>T (n.*1719C>T) | gnomAD v4 |
19 | g.18868858G>C | CA404862218 | CERS1,GDF1 | c.*1127C>G (n.*1127C>G) c.858C>G (p.Ile286Met) c.*1719C>G (n.*1719C>G) | |
19 | g.18868858G>T | CA506118236 | CERS1,GDF1 | c.*1127C>A (n.*1127C>A) c.858C>A (p.Ile286=) c.*1719C>A (n.*1719C>A) | gnomAD v4 |
19 | g.18868859A>C | CA404862219 | CERS1,GDF1 | c.*1126T>G (n.*1126T>G) c.857T>G (p.Ile286Ser) c.*1718T>G (n.*1718T>G) | |
19 | g.18868859A>G | CA404862220 | CERS1,GDF1 | c.*1126T>C (n.*1126T>C) c.857T>C (p.Ile286Thr) c.*1718T>C (n.*1718T>C) | gnomAD v4 |
19 | g.18868859A>T | CA404862221 | CERS1,GDF1 | c.*1126T>A (n.*1126T>A) c.857T>A (p.Ile286Asn) c.*1718T>A (n.*1718T>A) | gnomAD v4 |
19 | g.18868860T>A | CA404862224 | CERS1,GDF1 | c.*1125A>T (n.*1125A>T) c.856A>T (p.Ile286Phe) c.*1717A>T (n.*1717A>T) | gnomAD v4 |
19 | g.18868860T>C | CA404862223 | CERS1,GDF1 | c.*1125A>G (n.*1125A>G) c.856A>G (p.Ile286Val) c.*1717A>G (n.*1717A>G) | gnomAD v4 |
19 | g.18868860T>G | CA404862222 | CERS1,GDF1 | c.*1125A>C (n.*1125A>C) c.856A>C (p.Ile286Leu) c.*1717A>C (n.*1717A>C) | |
19 | g.18868861G>A | CA506118239 | CERS1,GDF1 | c.*1124C>T (n.*1124C>T) c.855C>T (p.Val285=) c.*1716C>T (n.*1716C>T) | gnomAD v4 |
19 | g.18868861G>C | CA506118240 | CERS1,GDF1 | c.*1124C>G (n.*1124C>G) c.855C>G (p.Val285=) c.*1716C>G (n.*1716C>G) | gnomAD v4 |
19 | g.18868861G>T | CA506118241 | CERS1,GDF1 | c.*1124C>A (n.*1124C>A) c.855C>A (p.Val285=) c.*1716C>A (n.*1716C>A) | gnomAD v4 |
19 | g.18868862A>C | CA404862227 | CERS1,GDF1 | c.*1123T>G (n.*1123T>G) c.854T>G (p.Val285Gly) c.*1715T>G (n.*1715T>G) | |
19 | g.18868862A>G | CA404862225 | CERS1,GDF1 | c.*1123T>C (n.*1123T>C) c.854T>C (p.Val285Ala) c.*1715T>C (n.*1715T>C) | gnomAD v4 |
19 | g.18868862A>T | CA404862226 | CERS1,GDF1 | c.*1123T>A (n.*1123T>A) c.854T>A (p.Val285Asp) c.*1715T>A (n.*1715T>A) | |
19 | g.18868863C>A | CA404862228 | CERS1,GDF1 | c.*1122G>T (n.*1122G>T) c.853G>T (p.Val285Phe) c.*1714G>T (n.*1714G>T) | gnomAD v4 |
19 | g.18868863C= | CA2326567578 | CERS1,GDF1 | c.*1122G= (n.*1122G=) c.853G= (p.Val285=) c.*1714G= (n.*1714G=) | |
19 | g.18868863C>G | CA404862229 | CERS1,GDF1 | c.*1122G>C (n.*1122G>C) c.853G>C (p.Val285Leu) c.*1714G>C (n.*1714G>C) | |
19 | g.18868863C>T | CA404862230 | CERS1,GDF1 | c.*1122G>A (n.*1122G>A) c.853G>A (p.Val285Ile) c.*1714G>A (n.*1714G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868865del | CA2583634722 | CERS1,GDF1 | c.*1122del (n.*1122del) c.853del (p.Val285SerfsTer?) c.*1714del (n.*1714del) | gnomAD v4 |
19 | g.18868864C>A | CA404862233 | CERS1,GDF1 | c.*1121G>T (n.*1121G>T) c.852G>T (p.Trp284Cys) c.*1713G>T (n.*1713G>T) | gnomAD v4 |
19 | g.18868864C= | CA2326567579 | CERS1,GDF1 | c.*1121G= (n.*1121G=) c.852G= (p.Trp284=) c.*1713G= (n.*1713G=) | |
19 | g.18868864C>G | CA404862232 | CERS1,GDF1 | c.*1121G>C (n.*1121G>C) c.852G>C (p.Trp284Cys) c.*1713G>C (n.*1713G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868864C>T | CA404862231 | CERS1,GDF1 | c.*1121G>A (n.*1121G>A) c.852G>A (p.Trp284Ter) c.*1713G>A (n.*1713G>A) | gnomAD v4 |
19 | g.18868865C>A | CA404862234 | CERS1,GDF1 | c.*1120G>T (n.*1120G>T) c.851G>T (p.Trp284Leu) c.*1712G>T (n.*1712G>T) | gnomAD v4 |
19 | g.18868865C>G | CA404862235 | CERS1,GDF1 | c.*1120G>C (n.*1120G>C) c.851G>C (p.Trp284Ser) c.*1712G>C (n.*1712G>C) | gnomAD v4 |
19 | g.18868865C>T | CA404862236 | CERS1,GDF1 | c.*1120G>A (n.*1120G>A) c.851G>A (p.Trp284Ter) c.*1712G>A (n.*1712G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.18868866A= | CA2326567580 | CERS1,GDF1 | c.*1119T= (n.*1119T=) c.850T= (p.Trp284=) c.*1711T= (n.*1711T=) | |
19 | g.18868866A>C | CA404862237 | CERS1,GDF1 | c.*1119T>G (n.*1119T>G) c.850T>G (p.Trp284Gly) c.*1711T>G (n.*1711T>G) | gnomAD v4 |
19 | g.18868866A>G | CA404862238 | CERS1,GDF1 | c.*1119T>C (n.*1119T>C) c.850T>C (p.Trp284Arg) c.*1711T>C (n.*1711T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868866A>T | CA404862239 | CERS1,GDF1 | c.*1119T>A (n.*1119T>A) c.850T>A (p.Trp284Arg) c.*1711T>A (n.*1711T>A) | |
19 | g.18868867G>A | CA506118249 | CERS1,GDF1 | c.*1118C>T (n.*1118C>T) c.849C>T (p.Arg283=) c.*1710C>T (n.*1710C>T) | gnomAD v4 |
19 | g.18868867G>C | CA506118251 | CERS1,GDF1 | c.*1118C>G (n.*1118C>G) c.849C>G (p.Arg283=) c.*1710C>G (n.*1710C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868867G= | CA2326567581 | CERS1,GDF1 | c.*1118C= (n.*1118C=) c.849C= (p.Arg283=) c.*1710C= (n.*1710C=) | |
19 | g.18868867G>T | CA506118252 | CERS1,GDF1 | c.*1118C>A (n.*1118C>A) c.849C>A (p.Arg283=) c.*1710C>A (n.*1710C>A) | |
19 | g.18868867_18868877dup | CA2583634723 | CERS1,GDF1 | c.*1108_*1118dup (n.*1108_*1118dup) c.839_849dup (p.Trp284AlafsTer?) c.*1700_*1710dup (n.*1700_*1710dup) | gnomAD v4 |
19 | g.18868868C>A | CA404862240 | CERS1,GDF1 | c.*1117G>T (n.*1117G>T) c.848G>T (p.Arg283Leu) c.*1709G>T (n.*1709G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868868C= | CA2326567582 | CERS1,GDF1 | c.*1117G= (n.*1117G=) c.848G= (p.Arg283=) c.*1709G= (n.*1709G=) | |
19 | g.18868868C>G | CA404862242 | CERS1,GDF1 | c.*1117G>C (n.*1117G>C) c.848G>C (p.Arg283Pro) c.*1709G>C (n.*1709G>C) | |
19 | g.18868868C>T | CA404862241 | CERS1,GDF1 | c.*1117G>A (n.*1117G>A) c.848G>A (p.Arg283His) c.*1709G>A (n.*1709G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868869G>A | CA404862243 | CERS1,GDF1 | c.*1116C>T (n.*1116C>T) c.847C>T (p.Arg283Cys) c.*1708C>T (n.*1708C>T) | dbSNP gnomAD v4 |
19 | g.18868869G>C | CA404862244 | CERS1,GDF1 | c.*1116C>G (n.*1116C>G) c.847C>G (p.Arg283Gly) c.*1708C>G (n.*1708C>G) | gnomAD v4 |
19 | g.18868869G= | CA2326567583 | CERS1,GDF1 | c.*1116C= (n.*1116C=) c.847C= (p.Arg283=) c.*1708C= (n.*1708C=) | |
19 | g.18868869G>T | CA404862245 | CERS1,GDF1 | c.*1116C>A (n.*1116C>A) c.847C>A (p.Arg283Ser) c.*1708C>A (n.*1708C>A) | gnomAD v4 |
19 | g.18868870G>A | CA506118255 | CERS1,GDF1 | c.*1115C>T (n.*1115C>T) c.846C>T (p.His282=) c.*1707C>T (n.*1707C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868870G>C | CA404862246 | CERS1,GDF1 | c.*1115C>G (n.*1115C>G) c.846C>G (p.His282Gln) c.*1707C>G (n.*1707C>G) | |
19 | g.18868870G>T | CA404862247 | CERS1,GDF1 | c.*1115C>A (n.*1115C>A) c.846C>A (p.His282Gln) c.*1707C>A (n.*1707C>A) | gnomAD v4 |
19 | g.18868871T>A | CA404862248 | CERS1,GDF1 | c.*1114A>T (n.*1114A>T) c.845A>T (p.His282Leu) c.*1706A>T (n.*1706A>T) | |
19 | g.18868871T>C | CA404862249 | CERS1,GDF1 | c.*1114A>G (n.*1114A>G) c.845A>G (p.His282Arg) c.*1706A>G (n.*1706A>G) | gnomAD v4 |
19 | g.18868871T>G | CA404862250 | CERS1,GDF1 | c.*1114A>C (n.*1114A>C) c.845A>C (p.His282Pro) c.*1706A>C (n.*1706A>C) | |
19 | g.18868872G>A | CA404862251 | CERS1,GDF1 | c.*1113C>T (n.*1113C>T) c.844C>T (p.His282Tyr) c.*1705C>T (n.*1705C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868872G>C | CA404862252 | CERS1,GDF1 | c.*1113C>G (n.*1113C>G) c.844C>G (p.His282Asp) c.*1705C>G (n.*1705C>G) | gnomAD v4 |
19 | g.18868872G= | CA2326567584 | CERS1,GDF1 | c.*1113C= (n.*1113C=) c.844C= (p.His282=) c.*1705C= (n.*1705C=) | |
19 | g.18868872G>T | CA404862253 | CERS1,GDF1 | c.*1113C>A (n.*1113C>A) c.844C>A (p.His282Asn) c.*1705C>A (n.*1705C>A) | gnomAD v4 |
19 | g.18868873C>A | CA404862255 | CERS1,GDF1 | c.*1112G>T (n.*1112G>T) c.843G>T (p.Trp281Cys) c.*1704G>T (n.*1704G>T) | gnomAD v4 |
19 | g.18868873C>G | CA404862256 | CERS1,GDF1 | c.*1112G>C (n.*1112G>C) c.843G>C (p.Trp281Cys) c.*1704G>C (n.*1704G>C) | gnomAD v4 |
19 | g.18868873C>T | CA404862254 | CERS1,GDF1 | c.*1112G>A (n.*1112G>A) c.843G>A (p.Trp281Ter) c.*1704G>A (n.*1704G>A) | gnomAD v4 |
19 | g.18868874del | CA2583634724 | CERS1,GDF1 | c.*1112del (n.*1112del) c.843del (p.Trp281CysfsTer?) c.*1704del (n.*1704del) | gnomAD v4 |
19 | g.18868874C>A | CA404862257 | CERS1,GDF1 | c.*1111G>T (n.*1111G>T) c.842G>T (p.Trp281Leu) c.*1703G>T (n.*1703G>T) | gnomAD v4 |
19 | g.18868874C>G | CA404862259 | CERS1,GDF1 | c.*1111G>C (n.*1111G>C) c.842G>C (p.Trp281Ser) c.*1703G>C (n.*1703G>C) | gnomAD v4 |
19 | g.18868874C>T | CA404862258 | CERS1,GDF1 | c.*1111G>A (n.*1111G>A) c.842G>A (p.Trp281Ter) c.*1703G>A (n.*1703G>A) | gnomAD v4 |
19 | g.18868875A>C | CA404862260 | CERS1,GDF1 | c.*1110T>G (n.*1110T>G) c.841T>G (p.Trp281Gly) c.*1702T>G (n.*1702T>G) | gnomAD v4 |
19 | g.18868875A>G | CA404862262 | CERS1,GDF1 | c.*1110T>C (n.*1110T>C) c.841T>C (p.Trp281Arg) c.*1702T>C (n.*1702T>C) | gnomAD v4 |
19 | g.18868875A>T | CA404862261 | CERS1,GDF1 | c.*1110T>A (n.*1110T>A) c.841T>A (p.Trp281Arg) c.*1702T>A (n.*1702T>A) | gnomAD v4 |
19 | g.18868876G>A | CA506118263 | CERS1,GDF1 | c.*1109C>T (n.*1109C>T) c.840C>T (p.Gly280=) c.*1701C>T (n.*1701C>T) | gnomAD v4 |
19 | g.18868876G>C | CA506118262 | CERS1,GDF1 | c.*1109C>G (n.*1109C>G) c.840C>G (p.Gly280=) c.*1701C>G (n.*1701C>G) | gnomAD v4 |
19 | g.18868876G= | CA2326567585 | CERS1,GDF1 | c.*1109C= (n.*1109C=) c.840C= (p.Gly280=) c.*1701C= (n.*1701C=) | |
19 | g.18868876G>T | CA506118260 | CERS1,GDF1 | c.*1109C>A (n.*1109C>A) c.840C>A (p.Gly280=) c.*1701C>A (n.*1701C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868877C>A | CA404862263 | CERS1,GDF1 | c.*1108G>T (n.*1108G>T) c.839G>T (p.Gly280Val) c.*1700G>T (n.*1700G>T) | gnomAD v4 |
19 | g.18868877C= | CA2326567586 | CERS1,GDF1 | c.*1108G= (n.*1108G=) c.839G= (p.Gly280=) c.*1700G= (n.*1700G=) | |
19 | g.18868877C>G | CA404862264 | CERS1,GDF1 | c.*1108G>C (n.*1108G>C) c.839G>C (p.Gly280Ala) c.*1700G>C (n.*1700G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868877C>T | CA404862265 | CERS1,GDF1 | c.*1108G>A (n.*1108G>A) c.839G>A (p.Gly280Asp) c.*1700G>A (n.*1700G>A) | gnomAD v3 gnomAD v4 |
19 | g.18868879del | CA2583634725 | CERS1,GDF1 | c.*1108del (n.*1108del) c.839del (p.Gly280AlafsTer?) c.*1700del (n.*1700del) | gnomAD v4 |
19 | g.18868878C>A | CA404862266 | CERS1,GDF1 | c.*1107G>T (n.*1107G>T) c.838G>T (p.Gly280Cys) c.*1699G>T (n.*1699G>T) | gnomAD v4 |
19 | g.18868878C>G | CA404862267 | CERS1,GDF1 | c.*1107G>C (n.*1107G>C) c.838G>C (p.Gly280Arg) c.*1699G>C (n.*1699G>C) | |
19 | g.18868878C>T | CA404862268 | CERS1,GDF1 | c.*1107G>A (n.*1107G>A) c.838G>A (p.Gly280Ser) c.*1699G>A (n.*1699G>A) | gnomAD v4 |
19 | g.18868879C>A | CA506118267 | CERS1,GDF1 | c.*1106G>T (n.*1106G>T) c.837G>T (p.Val279=) c.*1698G>T (n.*1698G>T) | gnomAD v4 |
19 | g.18868879C= | CA2326567587 | CERS1,GDF1 | c.*1106G= (n.*1106G=) c.837G= (p.Val279=) c.*1698G= (n.*1698G=) | |
19 | g.18868879C>G | CA506118268 | CERS1,GDF1 | c.*1106G>C (n.*1106G>C) c.837G>C (p.Val279=) c.*1698G>C (n.*1698G>C) | |
19 | g.18868879C>T | CA506118269 | CERS1,GDF1 | c.*1106G>A (n.*1106G>A) c.837G>A (p.Val279=) c.*1698G>A (n.*1698G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868880A>C | CA404862269 | CERS1,GDF1 | c.*1105T>G (n.*1105T>G) c.836T>G (p.Val279Gly) c.*1697T>G (n.*1697T>G) | gnomAD v4 |
19 | g.18868880A>G | CA404862270 | CERS1,GDF1 | c.*1105T>C (n.*1105T>C) c.836T>C (p.Val279Ala) c.*1697T>C (n.*1697T>C) | gnomAD v4 |
19 | g.18868880A>T | CA404862271 | CERS1,GDF1 | c.*1105T>A (n.*1105T>A) c.836T>A (p.Val279Glu) c.*1697T>A (n.*1697T>A) | |
19 | g.18868881C>A | CA404862274 | CERS1,GDF1 | c.*1104G>T (n.*1104G>T) c.835G>T (p.Val279Leu) c.*1696G>T (n.*1696G>T) | gnomAD v4 |
19 | g.18868881C>G | CA404862273 | CERS1,GDF1 | c.*1104G>C (n.*1104G>C) c.835G>C (p.Val279Leu) c.*1696G>C (n.*1696G>C) | gnomAD v4 |
19 | g.18868881C>T | CA404862272 | CERS1,GDF1 | c.*1104G>A (n.*1104G>A) c.835G>A (p.Val279Met) c.*1696G>A (n.*1696G>A) | gnomAD v4 |
19 | g.18868882C>A | CA404862275 | CERS1,GDF1 | c.*1103G>T (n.*1103G>T) c.834G>T (p.Glu278Asp) c.*1695G>T (n.*1695G>T) | gnomAD v4 |
19 | g.18868882C= | CA2326567588 | CERS1,GDF1 | c.*1103G= (n.*1103G=) c.834G= (p.Glu278=) c.*1695G= (n.*1695G=) | |
19 | g.18868882C>G | CA9317918 | CERS1,GDF1 | c.*1103G>C (n.*1103G>C) c.834G>C (p.Glu278Asp) c.*1695G>C (n.*1695G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868882C>T | CA506118276 | CERS1,GDF1 | c.*1103G>A (n.*1103G>A) c.834G>A (p.Glu278=) c.*1695G>A (n.*1695G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868883del | CA2583634726 | CERS1,GDF1 | c.*1102del (n.*1102del) c.833del (p.Glu278GlyfsTer?) c.*1694del (n.*1694del) | gnomAD v4 |
19 | g.18868883T>A | CA404862276 | CERS1,GDF1 | c.*1102A>T (n.*1102A>T) c.833A>T (p.Glu278Val) c.*1694A>T (n.*1694A>T) | gnomAD v4 |
19 | g.18868883T>C | CA404862277 | CERS1,GDF1 | c.*1102A>G (n.*1102A>G) c.833A>G (p.Glu278Gly) c.*1694A>G (n.*1694A>G) | gnomAD v4 |
19 | g.18868883T>G | CA404862278 | CERS1,GDF1 | c.*1102A>C (n.*1102A>C) c.833A>C (p.Glu278Ala) c.*1694A>C (n.*1694A>C) | |
19 | g.18868884C>A | CA404862279 | CERS1,GDF1 | c.*1101G>T (n.*1101G>T) c.832G>T (p.Glu278Ter) c.*1693G>T (n.*1693G>T) | gnomAD v4 |
19 | g.18868884C= | CA2326567589 | CERS1,GDF1 | c.*1101G= (n.*1101G=) c.832G= (p.Glu278=) c.*1693G= (n.*1693G=) | |
19 | g.18868884C>G | CA404862280 | CERS1,GDF1 | c.*1101G>C (n.*1101G>C) c.832G>C (p.Glu278Gln) c.*1693G>C (n.*1693G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868884C>T | CA404862281 | CERS1,GDF1 | c.*1101G>A (n.*1101G>A) c.832G>A (p.Glu278Lys) c.*1693G>A (n.*1693G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868888_18868912del | CA2583634727 | CERS1,GDF1 | c.*1077_*1101del (n.*1077_*1101del) c.808_832del (p.Arg271TrpfsTer?) c.*1669_*1693del (n.*1669_*1693del) | gnomAD v4 |
19 | g.18868885G>A | CA506118280 | CERS1,GDF1 | c.*1100C>T (n.*1100C>T) c.831C>T (p.Arg277=) c.*1692C>T (n.*1692C>T) | gnomAD v4 |
19 | g.18868885G>C | CA506118281 | CERS1,GDF1 | c.*1100C>G (n.*1100C>G) c.831C>G (p.Arg277=) c.*1692C>G (n.*1692C>G) | |
19 | g.18868885G>T | CA506118282 | CERS1,GDF1 | c.*1100C>A (n.*1100C>A) c.831C>A (p.Arg277=) c.*1692C>A (n.*1692C>A) | gnomAD v4 |
19 | g.18868886C>A | CA404862282 | CERS1,GDF1 | c.*1099G>T (n.*1099G>T) c.830G>T (p.Arg277Leu) c.*1691G>T (n.*1691G>T) | gnomAD v4 |
19 | g.18868886C= | CA2326567590 | CERS1,GDF1 | c.*1099G= (n.*1099G=) c.830G= (p.Arg277=) c.*1691G= (n.*1691G=) | |
19 | g.18868886C>G | CA404862283 | CERS1,GDF1 | c.*1099G>C (n.*1099G>C) c.830G>C (p.Arg277Pro) c.*1691G>C (n.*1691G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868886C>T | CA404862284 | CERS1,GDF1 | c.*1099G>A (n.*1099G>A) c.830G>A (p.Arg277His) c.*1691G>A (n.*1691G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.18868887G>A | CA404862286 | CERS1,GDF1 | c.*1098C>T (n.*1098C>T) c.829C>T (p.Arg277Cys) c.*1690C>T (n.*1690C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868887G>C | CA404862287 | CERS1,GDF1 | c.*1098C>G (n.*1098C>G) c.829C>G (p.Arg277Gly) c.*1690C>G (n.*1690C>G) | gnomAD v4 |
19 | g.18868887G= | CA2326567591 | CERS1,GDF1 | c.*1098C= (n.*1098C=) c.829C= (p.Arg277=) c.*1690C= (n.*1690C=) | |
19 | g.18868887G>T | CA404862285 | CERS1,GDF1 | c.*1098C>A (n.*1098C>A) c.829C>A (p.Arg277Ser) c.*1690C>A (n.*1690C>A) | gnomAD v4 |
19 | g.18868888G>A | CA506118285 | CERS1,GDF1 | c.*1097C>T (n.*1097C>T) c.828C>T (p.Phe276=) c.*1689C>T (n.*1689C>T) | gnomAD v4 |
19 | g.18868888G>C | CA404862288 | CERS1,GDF1 | c.*1097C>G (n.*1097C>G) c.828C>G (p.Phe276Leu) c.*1689C>G (n.*1689C>G) | |
19 | g.18868888G>T | CA404862289 | CERS1,GDF1 | c.*1097C>A (n.*1097C>A) c.828C>A (p.Phe276Leu) c.*1689C>A (n.*1689C>A) | gnomAD v4 |
19 | g.18868889A>C | CA404862290 | CERS1,GDF1 | c.*1096T>G (n.*1096T>G) c.827T>G (p.Phe276Cys) c.*1688T>G (n.*1688T>G) | |
19 | g.18868889A>G | CA404862291 | CERS1,GDF1 | c.*1096T>C (n.*1096T>C) c.827T>C (p.Phe276Ser) c.*1688T>C (n.*1688T>C) | gnomAD v4 |
19 | g.18868889A>T | CA404862292 | CERS1,GDF1 | c.*1096T>A (n.*1096T>A) c.827T>A (p.Phe276Tyr) c.*1688T>A (n.*1688T>A) | gnomAD v4 |
19 | g.18868890del | CA2583634728 | CERS1,GDF1 | c.*1096del (n.*1096del) c.827del (p.Phe276SerfsTer?) c.*1688del (n.*1688del) | gnomAD v4 |
19 | g.18868890A>C | CA404862295 | CERS1,GDF1 | c.*1095T>G (n.*1095T>G) c.826T>G (p.Phe276Val) c.*1687T>G (n.*1687T>G) | |
19 | g.18868890A>G | CA404862293 | CERS1,GDF1 | c.*1095T>C (n.*1095T>C) c.826T>C (p.Phe276Leu) c.*1687T>C (n.*1687T>C) | gnomAD v4 |
19 | g.18868890A>T | CA404862294 | CERS1,GDF1 | c.*1095T>A (n.*1095T>A) c.826T>A (p.Phe276Ile) c.*1687T>A (n.*1687T>A) | |
19 | g.18868891G>A | CA506118289 | CERS1,GDF1 | c.*1094C>T (n.*1094C>T) c.825C>T (p.Ser275=) c.*1686C>T (n.*1686C>T) | gnomAD v4 |
19 | g.18868891G>C | CA404862296 | CERS1,GDF1 | c.*1094C>G (n.*1094C>G) c.825C>G (p.Ser275Arg) c.*1686C>G (n.*1686C>G) | gnomAD v4 |
19 | g.18868891G= | CA2326567592 | CERS1,GDF1 | c.*1094C= (n.*1094C=) c.825C= (p.Ser275=) c.*1686C= (n.*1686C=) | |
19 | g.18868891G>T | CA404862297 | CERS1,GDF1 | c.*1094C>A (n.*1094C>A) c.825C>A (p.Ser275Arg) c.*1686C>A (n.*1686C>A) | dbSNP gnomAD v4 |
19 | g.18868892C>A | CA404862298 | CERS1,GDF1 | c.*1093G>T (n.*1093G>T) c.824G>T (p.Ser275Ile) c.*1685G>T (n.*1685G>T) | gnomAD v4 |
19 | g.18868892C>G | CA404862299 | CERS1,GDF1 | c.*1093G>C (n.*1093G>C) c.824G>C (p.Ser275Thr) c.*1685G>C (n.*1685G>C) | gnomAD v4 |
19 | g.18868892C>T | CA404862300 | CERS1,GDF1 | c.*1093G>A (n.*1093G>A) c.824G>A (p.Ser275Asn) c.*1685G>A (n.*1685G>A) | |
19 | g.18868893T>A | CA404862301 | CERS1,GDF1 | c.*1092A>T (n.*1092A>T) c.823A>T (p.Ser275Cys) c.*1684A>T (n.*1684A>T) | |
19 | g.18868893T>C | CA404862303 | CERS1,GDF1 | c.*1092A>G (n.*1092A>G) c.823A>G (p.Ser275Gly) c.*1684A>G (n.*1684A>G) | gnomAD v4 |
19 | g.18868893T>G | CA404862302 | CERS1,GDF1 | c.*1092A>C (n.*1092A>C) c.823A>C (p.Ser275Arg) c.*1684A>C (n.*1684A>C) | |
19 | g.18868893_18868894delinsTC | CA2326567593 | CERS1,GDF1 | c.*1091_*1092delinsGA (n.*1091_*1092delinsGA) c.822_823delinsGA (p.Val274=) c.*1683_*1684delinsGA (n.*1683_*1684delinsGA) | |
19 | g.18868895_18868950del | CA2697556433 | CERS1,GDF1 | c.*1037_*1092del (n.*1037_*1092del) c.768_823del (p.Pro257LeufsTer?) c.*1629_*1684del (n.*1629_*1684del) | ClinVar |
19 | g.18868894del | CA306231623 | CERS1,GDF1 | c.*1091del (n.*1091del) c.822del (p.Ser275AlafsTer?) c.*1683del (n.*1683del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868894C>A | CA506118294 | CERS1,GDF1 | c.*1091G>T (n.*1091G>T) c.822G>T (p.Val274=) c.*1683G>T (n.*1683G>T) | gnomAD v4 |
19 | g.18868894C= | CA2326567594 | CERS1,GDF1 | c.*1091G= (n.*1091G=) c.822G= (p.Val274=) c.*1683G= (n.*1683G=) | |
19 | g.18868894C>G | CA306231629 | CERS1,GDF1 | c.*1091G>C (n.*1091G>C) c.822G>C (p.Val274=) c.*1683G>C (n.*1683G>C) | dbSNP |
19 | g.18868894C>T | CA506118297 | CERS1,GDF1 | c.*1091G>A (n.*1091G>A) c.822G>A (p.Val274=) c.*1683G>A (n.*1683G>A) | gnomAD v4 |
19 | g.18868895A>C | CA404862304 | CERS1,GDF1 | c.*1090T>G (n.*1090T>G) c.821T>G (p.Val274Gly) c.*1682T>G (n.*1682T>G) | gnomAD v4 |
19 | g.18868895A>G | CA404862305 | CERS1,GDF1 | c.*1090T>C (n.*1090T>C) c.821T>C (p.Val274Ala) c.*1682T>C (n.*1682T>C) | gnomAD v4 |
19 | g.18868895A>T | CA404862306 | CERS1,GDF1 | c.*1090T>A (n.*1090T>A) c.821T>A (p.Val274Glu) c.*1682T>A (n.*1682T>A) | |
19 | g.18868896C>A | CA404862307 | CERS1,GDF1 | c.*1089G>T (n.*1089G>T) c.820G>T (p.Val274Leu) c.*1681G>T (n.*1681G>T) | gnomAD v4 |
19 | g.18868896C= | CA2326567595 | CERS1,GDF1 | c.*1089G= (n.*1089G=) c.820G= (p.Val274=) c.*1681G= (n.*1681G=) | |
19 | g.18868896C>G | CA404862308 | CERS1,GDF1 | c.*1089G>C (n.*1089G>C) c.820G>C (p.Val274Leu) c.*1681G>C (n.*1681G>C) | dbSNP gnomAD v4 |
19 | g.18868896C>T | CA404862309 | CERS1,GDF1 | c.*1089G>A (n.*1089G>A) c.820G>A (p.Val274Met) c.*1681G>A (n.*1681G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868897G>A | CA506118301 | CERS1,GDF1 | c.*1088C>T (n.*1088C>T) c.819C>T (p.Tyr273=) c.*1680C>T (n.*1680C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868897G>C | CA404862310 | CERS1,GDF1 | c.*1088C>G (n.*1088C>G) c.819C>G (p.Tyr273Ter) c.*1680C>G (n.*1680C>G) | gnomAD v4 |
19 | g.18868897G= | CA2326567596 | CERS1,GDF1 | c.*1088C= (n.*1088C=) c.819C= (p.Tyr273=) c.*1680C= (n.*1680C=) | |
19 | g.18868897G>T | CA404862311 | CERS1,GDF1 | c.*1088C>A (n.*1088C>A) c.819C>A (p.Tyr273Ter) c.*1680C>A (n.*1680C>A) | gnomAD v4 |
19 | g.18868898T>A | CA404862312 | CERS1,GDF1 | c.*1087A>T (n.*1087A>T) c.818A>T (p.Tyr273Phe) c.*1679A>T (n.*1679A>T) | |
19 | g.18868898T>C | CA404862313 | CERS1,GDF1 | c.*1087A>G (n.*1087A>G) c.818A>G (p.Tyr273Cys) c.*1679A>G (n.*1679A>G) | gnomAD v4 |
19 | g.18868898T>G | CA404862314 | CERS1,GDF1 | c.*1087A>C (n.*1087A>C) c.818A>C (p.Tyr273Ser) c.*1679A>C (n.*1679A>C) | gnomAD v4 |
19 | g.18868899A>C | CA404862316 | CERS1,GDF1 | c.*1086T>G (n.*1086T>G) c.817T>G (p.Tyr273Asp) c.*1678T>G (n.*1678T>G) | |
19 | g.18868899A>G | CA404862317 | CERS1,GDF1 | c.*1086T>C (n.*1086T>C) c.817T>C (p.Tyr273His) c.*1678T>C (n.*1678T>C) | gnomAD v4 |
19 | g.18868899A>T | CA404862315 | CERS1,GDF1 | c.*1086T>A (n.*1086T>A) c.817T>A (p.Tyr273Asn) c.*1678T>A (n.*1678T>A) | gnomAD v4 |
19 | g.18868902_18868917dup | CA2583634729 | CERS1,GDF1 | c.*1071_*1086dup (n.*1071_*1086dup) c.802_817dup (p.Tyr273SerfsTer?) c.*1663_*1678dup (n.*1663_*1678dup) | gnomAD v4 |
19 | g.18868900C>A | CA506118308 | CERS1,GDF1 | c.*1085G>T (n.*1085G>T) c.816G>T (p.Leu272=) c.*1677G>T (n.*1677G>T) | dbSNP gnomAD v4 |
19 | g.18868900C= | CA2326567597 | CERS1,GDF1 | c.*1085G= (n.*1085G=) c.816G= (p.Leu272=) c.*1677G= (n.*1677G=) | |
19 | g.18868900C>G | CA506118310 | CERS1,GDF1 | c.*1085G>C (n.*1085G>C) c.816G>C (p.Leu272=) c.*1677G>C (n.*1677G>C) | gnomAD v4 |
19 | g.18868900C>T | CA506118311 | CERS1,GDF1 | c.*1085G>A (n.*1085G>A) c.816G>A (p.Leu272=) c.*1677G>A (n.*1677G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868901A= | CA2326567599 | CERS1,GDF1 | c.*1084T= (n.*1084T=) c.815T= (p.Leu272=) c.*1676T= (n.*1676T=) | |
19 | g.18868901A>C | CA404862318 | CERS1,GDF1 | c.*1084T>G (n.*1084T>G) c.815T>G (p.Leu272Arg) c.*1676T>G (n.*1676T>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868901A>G | CA404862319 | CERS1,GDF1 | c.*1084T>C (n.*1084T>C) c.815T>C (p.Leu272Pro) c.*1676T>C (n.*1676T>C) | dbSNP gnomAD v4 |
19 | g.18868901A>T | CA404862320 | CERS1,GDF1 | c.*1084T>A (n.*1084T>A) c.815T>A (p.Leu272Gln) c.*1676T>A (n.*1676T>A) | gnomAD v4 |
19 | g.18868901_18868929delinsAGCCGCCGCGCGCGACAAGCGCCCCCGGG | CA2326567598 | CERS1,GDF1 | c.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT) c.787_815delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (p.Pro263=) c.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT) | |
19 | g.18868902G>A | CA506118314 | CERS1,GDF1 | c.*1083C>T (n.*1083C>T) c.814C>T (p.Leu272=) c.*1675C>T (n.*1675C>T) | dbSNP gnomAD v4 |
19 | g.18868902G>C | CA404862321 | CERS1,GDF1 | c.*1083C>G (n.*1083C>G) c.814C>G (p.Leu272Val) c.*1675C>G (n.*1675C>G) | |
19 | g.18868902G= | CA2326567600 | CERS1,GDF1 | c.*1083C= (n.*1083C=) c.814C= (p.Leu272=) c.*1675C= (n.*1675C=) | |
19 | g.18868902G>T | CA404862322 | CERS1,GDF1 | c.*1083C>A (n.*1083C>A) c.814C>A (p.Leu272Met) c.*1675C>A (n.*1675C>A) | gnomAD v4 |
19 | g.18868910_18868937del | CA632627030 | CERS1,GDF1 | c.*1056_*1083del (n.*1056_*1083del) c.787_814del (p.Pro263CysfsTer3) c.*1648_*1675del (n.*1648_*1675del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868903C>A | CA506118315 | CERS1,GDF1 | c.*1082G>T (n.*1082G>T) c.813G>T (p.Arg271=) c.*1674G>T (n.*1674G>T) | gnomAD v4 |
19 | g.18868903C= | CA2326567601 | CERS1,GDF1 | c.*1082G= (n.*1082G=) c.813G= (p.Arg271=) c.*1674G= (n.*1674G=) | |
19 | g.18868903C>G | CA506118319 | CERS1,GDF1 | c.*1082G>C (n.*1082G>C) c.813G>C (p.Arg271=) c.*1674G>C (n.*1674G>C) | gnomAD v4 |
19 | g.18868903C>T | CA506118320 | CERS1,GDF1 | c.*1082G>A (n.*1082G>A) c.813G>A (p.Arg271=) c.*1674G>A (n.*1674G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868904del | CA2583634730 | CERS1,GDF1 | c.*1082del (n.*1082del) c.813del (p.Leu272CysfsTer3) c.*1674del (n.*1674del) | gnomAD v4 |
19 | g.18868904C>A | CA404862325 | CERS1,GDF1 | c.*1081G>T (n.*1081G>T) c.812G>T (p.Arg271Leu) c.*1673G>T (n.*1673G>T) | gnomAD v4 |
19 | g.18868904C= | CA2326567602 | CERS1,GDF1 | c.*1081G= (n.*1081G=) c.812G= (p.Arg271=) c.*1673G= (n.*1673G=) | |
19 | g.18868904C>G | CA404862324 | CERS1,GDF1 | c.*1081G>C (n.*1081G>C) c.812G>C (p.Arg271Pro) c.*1673G>C (n.*1673G>C) | ClinVar dbSNP gnomAD v4 |
19 | g.18868904C>T | CA404862323 | CERS1,GDF1 | c.*1081G>A (n.*1081G>A) c.812G>A (p.Arg271Gln) c.*1673G>A (n.*1673G>A) | dbSNP gnomAD v4 |
19 | g.18868905G>A | CA404862326 | CERS1,GDF1 | c.*1080C>T (n.*1080C>T) c.811C>T (p.Arg271Trp) c.*1672C>T (n.*1672C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868905G>C | CA404862327 | CERS1,GDF1 | c.*1080C>G (n.*1080C>G) c.811C>G (p.Arg271Gly) c.*1672C>G (n.*1672C>G) | |
19 | g.18868905G= | CA2326567603 | CERS1,GDF1 | c.*1080C= (n.*1080C=) c.811C= (p.Arg271=) c.*1672C= (n.*1672C=) | |
19 | g.18868905G>T | CA506118321 | CERS1,GDF1 | c.*1080C>A (n.*1080C>A) c.811C>A (p.Arg271=) c.*1672C>A (n.*1672C>A) | dbSNP gnomAD v4 |
19 | g.18868906C>A | CA506118322 | CERS1,GDF1 | c.*1079G>T (n.*1079G>T) c.810G>T (p.Arg270=) c.*1671G>T (n.*1671G>T) | gnomAD v4 |
19 | g.18868906C= | CA2326567605 | CERS1,GDF1 | c.*1079G= (n.*1079G=) c.810G= (p.Arg270=) c.*1671G= (n.*1671G=) | |
19 | g.18868906C>G | CA506118326 | CERS1,GDF1 | c.*1079G>C (n.*1079G>C) c.810G>C (p.Arg270=) c.*1671G>C (n.*1671G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868906C>T | CA506118328 | CERS1,GDF1 | c.*1079G>A (n.*1079G>A) c.810G>A (p.Arg270=) c.*1671G>A (n.*1671G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868906_18868908delinsCCG | CA2326567604 | CERS1,GDF1 | c.*1077_*1079delinsCGG (n.*1077_*1079delinsCGG) c.808_810delinsCGG (p.Arg270=) c.*1669_*1671delinsCGG (n.*1669_*1671delinsCGG) | |
19 | g.18868907C>A | CA404862328 | CERS1,GDF1 | c.*1078G>T (n.*1078G>T) c.809G>T (p.Arg270Leu) c.*1670G>T (n.*1670G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868907C= | CA2326567607 | CERS1,GDF1 | c.*1078G= (n.*1078G=) c.809G= (p.Arg270=) c.*1670G= (n.*1670G=) | |
19 | g.18868907C>G | CA404862329 | CERS1,GDF1 | c.*1078G>C (n.*1078G>C) c.809G>C (p.Arg270Pro) c.*1670G>C (n.*1670G>C) | |
19 | g.18868907C>T | CA404862330 | CERS1,GDF1 | c.*1078G>A (n.*1078G>A) c.809G>A (p.Arg270Gln) c.*1670G>A (n.*1670G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868913_18868914del | CA2326567606 | CERS1,GDF1 | c.*1077_*1078del (n.*1077_*1078del) c.808_809del (p.Arg270AlafsTer?) c.*1669_*1670del (n.*1669_*1670del) | dbSNP gnomAD v4 |
19 | g.18868908G>A | CA404862331 | CERS1,GDF1 | c.*1077C>T (n.*1077C>T) c.808C>T (p.Arg270Trp) c.*1669C>T (n.*1669C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868908G>C | CA404862332 | CERS1,GDF1 | c.*1077C>G (n.*1077C>G) c.808C>G (p.Arg270Gly) c.*1669C>G (n.*1669C>G) | |
19 | g.18868908G= | CA2326567608 | CERS1,GDF1 | c.*1077C= (n.*1077C=) c.808C= (p.Arg270=) c.*1669C= (n.*1669C=) | |
19 | g.18868908G>T | CA506118336 | CERS1,GDF1 | c.*1077C>A (n.*1077C>A) c.808C>A (p.Arg270=) c.*1669C>A (n.*1669C>A) | gnomAD v4 |
19 | g.18868909C>A | CA506118339 | CERS1,GDF1 | c.*1076G>T (n.*1076G>T) c.807G>T (p.Ala269=) c.*1668G>T (n.*1668G>T) | gnomAD v4 |
19 | g.18868909C>G | CA506118340 | CERS1,GDF1 | c.*1076G>C (n.*1076G>C) c.807G>C (p.Ala269=) c.*1668G>C (n.*1668G>C) | |
19 | g.18868909C>T | CA506118342 | CERS1,GDF1 | c.*1076G>A (n.*1076G>A) c.807G>A (p.Ala269=) c.*1668G>A (n.*1668G>A) | gnomAD v3 gnomAD v4 |
19 | g.18868910G>A | CA404862333 | CERS1,GDF1 | c.*1075C>T (n.*1075C>T) c.806C>T (p.Ala269Val) c.*1667C>T (n.*1667C>T) | gnomAD v4 |
19 | g.18868910G>C | CA404862335 | CERS1,GDF1 | c.*1075C>G (n.*1075C>G) c.806C>G (p.Ala269Gly) c.*1667C>G (n.*1667C>G) | |
19 | g.18868910G>T | CA404862334 | CERS1,GDF1 | c.*1075C>A (n.*1075C>A) c.806C>A (p.Ala269Glu) c.*1667C>A (n.*1667C>A) | gnomAD v4 |
19 | g.18868911C>A | CA404862336 | CERS1,GDF1 | c.*1074G>T (n.*1074G>T) c.805G>T (p.Ala269Ser) c.*1666G>T (n.*1666G>T) | dbSNP gnomAD v4 |
19 | g.18868911C= | CA2326567609 | CERS1,GDF1 | c.*1074G= (n.*1074G=) c.805G= (p.Ala269=) c.*1666G= (n.*1666G=) | |
19 | g.18868911C>G | CA404862337 | CERS1,GDF1 | c.*1074G>C (n.*1074G>C) c.805G>C (p.Ala269Pro) c.*1666G>C (n.*1666G>C) | |
19 | g.18868911C>T | CA404862338 | CERS1,GDF1 | c.*1074G>A (n.*1074G>A) c.805G>A (p.Ala269Thr) c.*1666G>A (n.*1666G>A) | gnomAD v4 |
19 | g.18868912G>A | CA9317919 | CERS1,GDF1 | c.*1073C>T (n.*1073C>T) c.804C>T (p.Arg268=) c.*1665C>T (n.*1665C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868912G>C | CA506118349 | CERS1,GDF1 | c.*1073C>G (n.*1073C>G) c.804C>G (p.Arg268=) c.*1665C>G (n.*1665C>G) | gnomAD v4 |
19 | g.18868912G= | CA2326567610 | CERS1,GDF1 | c.*1073C= (n.*1073C=) c.804C= (p.Arg268=) c.*1665C= (n.*1665C=) | |
19 | g.18868912G>T | CA506118348 | CERS1,GDF1 | c.*1073C>A (n.*1073C>A) c.804C>A (p.Arg268=) c.*1665C>A (n.*1665C>A) | gnomAD v4 |
19 | g.18868913del | CA2583634731 | CERS1,GDF1 | c.*1072del (n.*1072del) c.803del (p.Arg268ProfsTer7) c.*1664del (n.*1664del) | gnomAD v4 |
19 | g.18868913C>A | CA404862339 | CERS1,GDF1 | c.*1072G>T (n.*1072G>T) c.803G>T (p.Arg268Leu) c.*1664G>T (n.*1664G>T) | gnomAD v4 |
19 | g.18868913C>G | CA404862340 | CERS1,GDF1 | c.*1072G>C (n.*1072G>C) c.803G>C (p.Arg268Pro) c.*1664G>C (n.*1664G>C) | gnomAD v4 |
19 | g.18868913C>T | CA404862341 | CERS1,GDF1 | c.*1072G>A (n.*1072G>A) c.803G>A (p.Arg268His) c.*1664G>A (n.*1664G>A) | gnomAD v4 |
19 | g.18868914_18868924del | CA2695228498 | CERS1,GDF1 | c.*1062_*1072del (n.*1062_*1072del) c.793_803del (p.Gly265ArgfsTer?) c.*1654_*1664del (n.*1654_*1664del) | |
19 | g.18868914G>A | CA404862342 | CERS1,GDF1 | c.*1071C>T (n.*1071C>T) c.802C>T (p.Arg268Cys) c.*1663C>T (n.*1663C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868914G>C | CA404862343 | CERS1,GDF1 | c.*1071C>G (n.*1071C>G) c.802C>G (p.Arg268Gly) c.*1663C>G (n.*1663C>G) | |
19 | g.18868914G= | CA2326567611 | CERS1,GDF1 | c.*1071C= (n.*1071C=) c.802C= (p.Arg268=) c.*1663C= (n.*1663C=) | |
19 | g.18868914G>T | CA404862344 | CERS1,GDF1 | c.*1071C>A (n.*1071C>A) c.802C>A (p.Arg268Ser) c.*1663C>A (n.*1663C>A) | gnomAD v4 |
19 | g.18868914_18868940delinsGACAAGCGCCCCCGGGGCCGCCGCCCA | CA2326567612 | CERS1,GDF1 | c.*1045_*1071delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (n.*1045_*1071delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC) c.776_802delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (p.Leu259=) c.*1637_*1663delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (n.*1637_*1663delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC) | |
19 | g.18868914_18868941dup | CA2813841589 | CERS1,GDF1 | c.*1044_*1071dup (n.*1044_*1071dup) c.775_802dup (p.Arg268LeufsTer?) c.*1636_*1663dup (n.*1636_*1663dup) | |
19 | g.18868915del | CA2583634732 | CERS1,GDF1 | c.*1070del (n.*1070del) c.801del (p.Arg268AlafsTer7) c.*1662del (n.*1662del) | gnomAD v4 |
19 | g.18868915A>C | CA404862345 | CERS1,GDF1 | c.*1070T>G (n.*1070T>G) c.801T>G (p.Cys267Trp) c.*1662T>G (n.*1662T>G) | |
19 | g.18868915A>G | CA506118367 | CERS1,GDF1 | c.*1070T>C (n.*1070T>C) c.801T>C (p.Cys267=) c.*1662T>C (n.*1662T>C) | gnomAD v4 |
19 | g.18868915A>T | CA404862346 | CERS1,GDF1 | c.*1070T>A (n.*1070T>A) c.801T>A (p.Cys267Ter) c.*1662T>A (n.*1662T>A) | |
19 | g.18868915_18868916insACAAGCGCCCCCGGGGCCGCCGCCCA | CA920074473 | CERS1,GDF1 | c.*1070_*1071insGGGCGGCGGCCCCGGGGGCGCTTGTT (n.*1070_*1071insGGGCGGCGGCCCCGGGGGCGCTTGTT) c.801_802insGGGCGGCGGCCCCGGGGGCGCTTGTT (p.Arg268GlyfsTer16) c.*1662_*1663insGGGCGGCGGCCCCGGGGGCGCTTGTT (n.*1662_*1663insGGGCGGCGGCCCCGGGGGCGCTTGTT) | dbSNP |
19 | g.18868918_18868943del | CA16620816 | CERS1,GDF1 | c.*1045_*1070del (n.*1045_*1070del) c.776_801del (p.Leu259SerfsTer?) c.*1637_*1662del (n.*1637_*1662del) | ClinVar dbSNP gnomAD v4 |
19 | g.18868916C>A | CA404862347 | CERS1,GDF1 | c.*1069G>T (n.*1069G>T) c.800G>T (p.Cys267Phe) c.*1661G>T (n.*1661G>T) | gnomAD v4 |
19 | g.18868916C= | CA2326567613 | CERS1,GDF1 | c.*1069G= (n.*1069G=) c.800G= (p.Cys267=) c.*1661G= (n.*1661G=) | |
19 | g.18868916C>G | CA404862348 | CERS1,GDF1 | c.*1069G>C (n.*1069G>C) c.800G>C (p.Cys267Ser) c.*1661G>C (n.*1661G>C) | |
19 | g.18868916C>T | CA118484 | CERS1,GDF1 | c.*1069G>A (n.*1069G>A) c.800G>A (p.Cys267Tyr) c.*1661G>A (n.*1661G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868917A>C | CA404862349 | CERS1,GDF1 | c.*1068T>G (n.*1068T>G) c.799T>G (p.Cys267Gly) c.*1660T>G (n.*1660T>G) | |
19 | g.18868917A>G | CA404862350 | CERS1,GDF1 | c.*1068T>C (n.*1068T>C) c.799T>C (p.Cys267Arg) c.*1660T>C (n.*1660T>C) | gnomAD v4 |
19 | g.18868917A>T | CA404862351 | CERS1,GDF1 | c.*1068T>A (n.*1068T>A) c.799T>A (p.Cys267Ser) c.*1660T>A (n.*1660T>A) | |
19 | g.18868918A>C | CA506118379 | CERS1,GDF1 | c.*1067T>G (n.*1067T>G) c.798T>G (p.Ala266=) c.*1659T>G (n.*1659T>G) | gnomAD v4 |
19 | g.18868918A>G | CA506118381 | CERS1,GDF1 | c.*1067T>C (n.*1067T>C) c.798T>C (p.Ala266=) c.*1659T>C (n.*1659T>C) | gnomAD v4 |
19 | g.18868918A>T | CA506118383 | CERS1,GDF1 | c.*1067T>A (n.*1067T>A) c.798T>A (p.Ala266=) c.*1659T>A (n.*1659T>A) | |
19 | g.18868919G>A | CA404862352 | CERS1,GDF1 | c.*1066C>T (n.*1066C>T) c.797C>T (p.Ala266Val) c.*1658C>T (n.*1658C>T) | dbSNP gnomAD v4 |
19 | g.18868919G>C | CA404862353 | CERS1,GDF1 | c.*1066C>G (n.*1066C>G) c.797C>G (p.Ala266Gly) c.*1658C>G (n.*1658C>G) | gnomAD v4 |
19 | g.18868919G= | CA2326567614 | CERS1,GDF1 | c.*1066C= (n.*1066C=) c.797C= (p.Ala266=) c.*1658C= (n.*1658C=) | |
19 | g.18868919G>T | CA404862354 | CERS1,GDF1 | c.*1066C>A (n.*1066C>A) c.797C>A (p.Ala266Asp) c.*1658C>A (n.*1658C>A) | gnomAD v4 |