Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18869305T>A | CA404863327 | CERS1,GDF1 | c.*680A>T (n.*680A>T) c.411A>T (p.Glu137Asp) c.*1272A>T (n.*1272A>T) | |
19 | g.18869305T>C | CA506118166 | CERS1,GDF1 | c.*680A>G (n.*680A>G) c.411A>G (p.Glu137=) c.*1272A>G (n.*1272A>G) | gnomAD v4 |
19 | g.18869305T>G | CA306231859 | CERS1,GDF1 | c.*680A>C (n.*680A>C) c.411A>C (p.Glu137Asp) c.*1272A>C (n.*1272A>C) | dbSNP |
19 | g.18869305T= | CA2326567823 | CERS1,GDF1 | c.*680A= (n.*680A=) c.411A= (p.Glu137=) c.*1272A= (n.*1272A=) | |
19 | g.18869306T>A | CA404863328 | CERS1,GDF1 | c.*679A>T (n.*679A>T) c.410A>T (p.Glu137Val) c.*1271A>T (n.*1271A>T) | |
19 | g.18869306T>C | CA404863329 | CERS1,GDF1 | c.*679A>G (n.*679A>G) c.410A>G (p.Glu137Gly) c.*1271A>G (n.*1271A>G) | dbSNP |
19 | g.18869306T>G | CA404863330 | CERS1,GDF1 | c.*679A>C (n.*679A>C) c.410A>C (p.Glu137Ala) c.*1271A>C (n.*1271A>C) | |
19 | g.18869306T= | CA2326567824 | CERS1,GDF1 | c.*679A= (n.*679A=) c.410A= (p.Glu137=) c.*1271A= (n.*1271A=) | |
19 | g.18869306_18869307delinsTC | CA2326567825 | CERS1,GDF1 | c.*678_*679delinsGA (n.*678_*679delinsGA) c.409_410delinsGA (p.Glu137=) c.*1270_*1271delinsGA (n.*1270_*1271delinsGA) | |
19 | g.18869307C>A | CA404863331 | CERS1,GDF1 | c.*678G>T (n.*678G>T) c.409G>T (p.Glu137Ter) c.*1270G>T (n.*1270G>T) | |
19 | g.18869307C= | CA2326567827 | CERS1,GDF1 | c.*678G= (n.*678G=) c.409G= (p.Glu137=) c.*1270G= (n.*1270G=) | |
19 | g.18869307C>G | CA404863333 | CERS1,GDF1 | c.*678G>C (n.*678G>C) c.409G>C (p.Glu137Gln) c.*1270G>C (n.*1270G>C) | |
19 | g.18869307C>T | CA404863332 | CERS1,GDF1 | c.*678G>A (n.*678G>A) c.409G>A (p.Glu137Lys) c.*1270G>A (n.*1270G>A) | dbSNP |
19 | g.18869308del | CA2326567826 | CERS1,GDF1 | c.*678del (n.*678del) c.409del (p.Glu137AsnfsTer29) c.*1270del (n.*1270del) | dbSNP |
19 | g.18869308_18869314del | CA2583634798 | CERS1,GDF1 | c.*672_*678del (n.*672_*678del) c.403_409del (p.Ala135AsnfsTer29) c.*1264_*1270del (n.*1264_*1270del) | gnomAD v4 |
19 | g.18869308C>A | CA506118172 | CERS1,GDF1 | c.*677G>T (n.*677G>T) c.408G>T (p.Val136=) c.*1269G>T (n.*1269G>T) | gnomAD v4 |
19 | g.18869308C= | CA2326567828 | CERS1,GDF1 | c.*677G= (n.*677G=) c.408G= (p.Val136=) c.*1269G= (n.*1269G=) | |
19 | g.18869308C>G | CA506118173 | CERS1,GDF1 | c.*677G>C (n.*677G>C) c.408G>C (p.Val136=) c.*1269G>C (n.*1269G>C) | |
19 | g.18869308C>T | CA506118174 | CERS1,GDF1 | c.*677G>A (n.*677G>A) c.408G>A (p.Val136=) c.*1269G>A (n.*1269G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869309A= | CA2326567829 | CERS1,GDF1 | c.*676T= (n.*676T=) c.407T= (p.Val136=) c.*1268T= (n.*1268T=) | |
19 | g.18869309A>C | CA404863334 | CERS1,GDF1 | c.*676T>G (n.*676T>G) c.407T>G (p.Val136Gly) c.*1268T>G (n.*1268T>G) | |
19 | g.18869309A>G | CA306231861 | CERS1,GDF1 | c.*676T>C (n.*676T>C) c.407T>C (p.Val136Ala) c.*1268T>C (n.*1268T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869309A>T | CA404863335 | CERS1,GDF1 | c.*676T>A (n.*676T>A) c.407T>A (p.Val136Glu) c.*1268T>A (n.*1268T>A) | |
19 | g.18869310C>A | CA404863336 | CERS1,GDF1 | c.*675G>T (n.*675G>T) c.406G>T (p.Val136Leu) c.*1267G>T (n.*1267G>T) | gnomAD v4 |
19 | g.18869310C>G | CA404863337 | CERS1,GDF1 | c.*675G>C (n.*675G>C) c.406G>C (p.Val136Leu) c.*1267G>C (n.*1267G>C) | |
19 | g.18869310C>T | CA404863338 | CERS1,GDF1 | c.*675G>A (n.*675G>A) c.406G>A (p.Val136Met) c.*1267G>A (n.*1267G>A) | gnomAD v4 |
19 | g.18869311A>C | CA506118182 | CERS1,GDF1 | c.*674T>G (n.*674T>G) c.405T>G (p.Ala135=) c.*1266T>G (n.*1266T>G) | |
19 | g.18869311A>G | CA506118183 | CERS1,GDF1 | c.*674T>C (n.*674T>C) c.405T>C (p.Ala135=) c.*1266T>C (n.*1266T>C) | gnomAD v4 |
19 | g.18869311A>T | CA506118184 | CERS1,GDF1 | c.*674T>A (n.*674T>A) c.405T>A (p.Ala135=) c.*1266T>A (n.*1266T>A) | gnomAD v4 |
19 | g.18869312G>A | CA16616030 | CERS1,GDF1 | c.*673C>T (n.*673C>T) c.404C>T (p.Ala135Val) c.*1265C>T (n.*1265C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869312G>C | CA404863339 | CERS1,GDF1 | c.*673C>G (n.*673C>G) c.404C>G (p.Ala135Gly) c.*1265C>G (n.*1265C>G) | gnomAD v4 |
19 | g.18869312G= | CA2326567830 | CERS1,GDF1 | c.*673C= (n.*673C=) c.404C= (p.Ala135=) c.*1265C= (n.*1265C=) | |
19 | g.18869312G>T | CA404863340 | CERS1,GDF1 | c.*673C>A (n.*673C>A) c.404C>A (p.Ala135Asp) c.*1265C>A (n.*1265C>A) | |
19 | g.18869313C>A | CA404863342 | CERS1,GDF1 | c.*672G>T (n.*672G>T) c.403G>T (p.Ala135Ser) c.*1264G>T (n.*1264G>T) | gnomAD v4 |
19 | g.18869313C= | CA2326567831 | CERS1,GDF1 | c.*672G= (n.*672G=) c.403G= (p.Ala135=) c.*1264G= (n.*1264G=) | |
19 | g.18869313C>G | CA404863343 | CERS1,GDF1 | c.*672G>C (n.*672G>C) c.403G>C (p.Ala135Pro) c.*1264G>C (n.*1264G>C) | |
19 | g.18869313C>T | CA404863341 | CERS1,GDF1 | c.*672G>A (n.*672G>A) c.403G>A (p.Ala135Thr) c.*1264G>A (n.*1264G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869314C>A | CA506118189 | CERS1,GDF1 | c.*671G>T (n.*671G>T) c.402G>T (p.Ser134=) c.*1263G>T (n.*1263G>T) | |
19 | g.18869314C= | CA2326567832 | CERS1,GDF1 | c.*671G= (n.*671G=) c.402G= (p.Ser134=) c.*1263G= (n.*1263G=) | |
19 | g.18869314C>G | CA506118193 | CERS1,GDF1 | c.*671G>C (n.*671G>C) c.402G>C (p.Ser134=) c.*1263G>C (n.*1263G>C) | gnomAD v4 |
19 | g.18869314C>T | CA506118191 | CERS1,GDF1 | c.*671G>A (n.*671G>A) c.402G>A (p.Ser134=) c.*1263G>A (n.*1263G>A) | dbSNP gnomAD v4 |
19 | g.18869315G>A | CA404863344 | CERS1,GDF1 | c.*670C>T (n.*670C>T) c.401C>T (p.Ser134Leu) c.*1262C>T (n.*1262C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869315G>C | CA16620817 | CERS1,GDF1 | c.*670C>G (n.*670C>G) c.401C>G (p.Ser134Trp) c.*1262C>G (n.*1262C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869315G= | CA2326567833 | CERS1,GDF1 | c.*670C= (n.*670C=) c.401C= (p.Ser134=) c.*1262C= (n.*1262C=) | |
19 | g.18869315G>T | CA404863345 | CERS1,GDF1 | c.*670C>A (n.*670C>A) c.401C>A (p.Ser134Ter) c.*1262C>A (n.*1262C>A) | gnomAD v4 |
19 | g.18869315dup | CA2576726652 | CERS1,GDF1 | c.*670dup (n.*670dup) c.401dup (p.Ala135GlyfsTer6) c.*1262dup (n.*1262dup) | |
19 | g.18869316A>C | CA404863346 | CERS1,GDF1 | c.*669T>G (n.*669T>G) c.400T>G (p.Ser134Ala) c.*1261T>G (n.*1261T>G) | |
19 | g.18869316A>G | CA404863347 | CERS1,GDF1 | c.*669T>C (n.*669T>C) c.400T>C (p.Ser134Pro) c.*1261T>C (n.*1261T>C) | gnomAD v4 |
19 | g.18869316A>T | CA404863348 | CERS1,GDF1 | c.*669T>A (n.*669T>A) c.400T>A (p.Ser134Thr) c.*1261T>A (n.*1261T>A) | |
19 | g.18869317C>A | CA506118201 | CERS1,GDF1 | c.*668G>T (n.*668G>T) c.399G>T (p.Leu133=) c.*1260G>T (n.*1260G>T) | gnomAD v4 |
19 | g.18869317C= | CA2326567834 | CERS1,GDF1 | c.*668G= (n.*668G=) c.399G= (p.Leu133=) c.*1260G= (n.*1260G=) | |
19 | g.18869317C>G | CA506118202 | CERS1,GDF1 | c.*668G>C (n.*668G>C) c.399G>C (p.Leu133=) c.*1260G>C (n.*1260G>C) | |
19 | g.18869317C>T | CA506118203 | CERS1,GDF1 | c.*668G>A (n.*668G>A) c.399G>A (p.Leu133=) c.*1260G>A (n.*1260G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869318A= | CA2326567835 | CERS1,GDF1 | c.*667T= (n.*667T=) c.398T= (p.Leu133=) c.*1259T= (n.*1259T=) | |
19 | g.18869318A>C | CA404863349 | CERS1,GDF1 | c.*667T>G (n.*667T>G) c.398T>G (p.Leu133Arg) c.*1259T>G (n.*1259T>G) | |
19 | g.18869318A>G | CA404863351 | CERS1,GDF1 | c.*667T>C (n.*667T>C) c.398T>C (p.Leu133Pro) c.*1259T>C (n.*1259T>C) | |
19 | g.18869318A>T | CA404863350 | CERS1,GDF1 | c.*667T>A (n.*667T>A) c.398T>A (p.Leu133Gln) c.*1259T>A (n.*1259T>A) | dbSNP |
19 | g.18869319G>A | CA506118210 | CERS1,GDF1 | c.*666C>T (n.*666C>T) c.397C>T (p.Leu133=) c.*1258C>T (n.*1258C>T) | |
19 | g.18869319G>C | CA404863352 | CERS1,GDF1 | c.*666C>G (n.*666C>G) c.397C>G (p.Leu133Val) c.*1258C>G (n.*1258C>G) | gnomAD v4 |
19 | g.18869319G>T | CA404863353 | CERS1,GDF1 | c.*666C>A (n.*666C>A) c.397C>A (p.Leu133Met) c.*1258C>A (n.*1258C>A) | gnomAD v4 |
19 | g.18869320G>A | CA506118211 | CERS1,GDF1 | c.*665C>T (n.*665C>T) c.396C>T (p.Asp132=) c.*1257C>T (n.*1257C>T) | dbSNP gnomAD v4 |
19 | g.18869320G>C | CA404863354 | CERS1,GDF1 | c.*665C>G (n.*665C>G) c.396C>G (p.Asp132Glu) c.*1257C>G (n.*1257C>G) | |
19 | g.18869320G= | CA2326567836 | CERS1,GDF1 | c.*665C= (n.*665C=) c.396C= (p.Asp132=) c.*1257C= (n.*1257C=) | |
19 | g.18869320G>T | CA404863355 | CERS1,GDF1 | c.*665C>A (n.*665C>A) c.396C>A (p.Asp132Glu) c.*1257C>A (n.*1257C>A) | gnomAD v4 |
19 | g.18869321T>A | CA404863356 | CERS1,GDF1 | c.*664A>T (n.*664A>T) c.395A>T (p.Asp132Val) c.*1256A>T (n.*1256A>T) | gnomAD v4 |
19 | g.18869321T>C | CA404863358 | CERS1,GDF1 | c.*664A>G (n.*664A>G) c.395A>G (p.Asp132Gly) c.*1256A>G (n.*1256A>G) | gnomAD v4 |
19 | g.18869321T>G | CA404863357 | CERS1,GDF1 | c.*664A>C (n.*664A>C) c.395A>C (p.Asp132Ala) c.*1256A>C (n.*1256A>C) | gnomAD v4 |
19 | g.18869322C>A | CA404863359 | CERS1,GDF1 | c.*663G>T (n.*663G>T) c.394G>T (p.Asp132Tyr) c.*1255G>T (n.*1255G>T) | gnomAD v4 |
19 | g.18869322C= | CA2326567837 | CERS1,GDF1 | c.*663G= (n.*663G=) c.394G= (p.Asp132=) c.*1255G= (n.*1255G=) | |
19 | g.18869322C>G | CA404863360 | CERS1,GDF1 | c.*663G>C (n.*663G>C) c.394G>C (p.Asp132His) c.*1255G>C (n.*1255G>C) | gnomAD v4 |
19 | g.18869322C>T | CA404863361 | CERS1,GDF1 | c.*663G>A (n.*663G>A) c.394G>A (p.Asp132Asn) c.*1255G>A (n.*1255G>A) | dbSNP gnomAD v4 |
19 | g.18869323G>A | CA506118221 | CERS1,GDF1 | c.*662C>T (n.*662C>T) c.393C>T (p.Phe131=) c.*1254C>T (n.*1254C>T) | dbSNP |
19 | g.18869323G>C | CA404863362 | CERS1,GDF1 | c.*662C>G (n.*662C>G) c.393C>G (p.Phe131Leu) c.*1254C>G (n.*1254C>G) | |
19 | g.18869323G= | CA2326567838 | CERS1,GDF1 | c.*662C= (n.*662C=) c.393C= (p.Phe131=) c.*1254C= (n.*1254C=) | |
19 | g.18869323G>T | CA404863363 | CERS1,GDF1 | c.*662C>A (n.*662C>A) c.393C>A (p.Phe131Leu) c.*1254C>A (n.*1254C>A) | dbSNP gnomAD v4 |
19 | g.18869324A>C | CA404863364 | CERS1,GDF1 | c.*661T>G (n.*661T>G) c.392T>G (p.Phe131Cys) c.*1253T>G (n.*1253T>G) | |
19 | g.18869324A>G | CA404863365 | CERS1,GDF1 | c.*661T>C (n.*661T>C) c.392T>C (p.Phe131Ser) c.*1253T>C (n.*1253T>C) | gnomAD v4 |
19 | g.18869324A>T | CA404863366 | CERS1,GDF1 | c.*661T>A (n.*661T>A) c.392T>A (p.Phe131Tyr) c.*1253T>A (n.*1253T>A) | |
19 | g.18869325A>C | CA404863367 | CERS1,GDF1 | c.*660T>G (n.*660T>G) c.391T>G (p.Phe131Val) c.*1252T>G (n.*1252T>G) | |
19 | g.18869325A>G | CA404863368 | CERS1,GDF1 | c.*660T>C (n.*660T>C) c.391T>C (p.Phe131Leu) c.*1252T>C (n.*1252T>C) | |
19 | g.18869325A>T | CA404863369 | CERS1,GDF1 | c.*660T>A (n.*660T>A) c.391T>A (p.Phe131Ile) c.*1252T>A (n.*1252T>A) | gnomAD v4 |
19 | g.18869326G>A | CA506118232 | CERS1,GDF1 | c.*659C>T (n.*659C>T) c.390C>T (p.Val130=) c.*1251C>T (n.*1251C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869326G>C | CA506118234 | CERS1,GDF1 | c.*659C>G (n.*659C>G) c.390C>G (p.Val130=) c.*1251C>G (n.*1251C>G) | |
19 | g.18869326G= | CA2326567839 | CERS1,GDF1 | c.*659C= (n.*659C=) c.390C= (p.Val130=) c.*1251C= (n.*1251C=) | |
19 | g.18869326G>T | CA506118233 | CERS1,GDF1 | c.*659C>A (n.*659C>A) c.390C>A (p.Val130=) c.*1251C>A (n.*1251C>A) | gnomAD v4 |
19 | g.18869327A>C | CA404863372 | CERS1,GDF1 | c.*658T>G (n.*658T>G) c.389T>G (p.Val130Gly) c.*1250T>G (n.*1250T>G) | |
19 | g.18869327A>G | CA404863371 | CERS1,GDF1 | c.*658T>C (n.*658T>C) c.389T>C (p.Val130Ala) c.*1250T>C (n.*1250T>C) | |
19 | g.18869327A>T | CA404863370 | CERS1,GDF1 | c.*658T>A (n.*658T>A) c.389T>A (p.Val130Asp) c.*1250T>A (n.*1250T>A) | |
19 | g.18869328C>A | CA404863373 | CERS1,GDF1 | c.*657G>T (n.*657G>T) c.388G>T (p.Val130Phe) c.*1249G>T (n.*1249G>T) | gnomAD v4 |
19 | g.18869328C= | CA2326567840 | CERS1,GDF1 | c.*657G= (n.*657G=) c.388G= (p.Val130=) c.*1249G= (n.*1249G=) | |
19 | g.18869328C>G | CA404863374 | CERS1,GDF1 | c.*657G>C (n.*657G>C) c.388G>C (p.Val130Leu) c.*1249G>C (n.*1249G>C) | |
19 | g.18869328C>T | CA9317934 | CERS1,GDF1 | c.*657G>A (n.*657G>A) c.388G>A (p.Val130Ile) c.*1249G>A (n.*1249G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869329G>A | CA506118242 | CERS1,GDF1 | c.*656C>T (n.*656C>T) c.387C>T (p.Val129=) c.*1248C>T (n.*1248C>T) | gnomAD v4 |
19 | g.18869329G>C | CA506118243 | CERS1,GDF1 | c.*656C>G (n.*656C>G) c.387C>G (p.Val129=) c.*1248C>G (n.*1248C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869329G= | CA2326567841 | CERS1,GDF1 | c.*656C= (n.*656C=) c.387C= (p.Val129=) c.*1248C= (n.*1248C=) | |
19 | g.18869329G>T | CA506118245 | CERS1,GDF1 | c.*656C>A (n.*656C>A) c.387C>A (p.Val129=) c.*1248C>A (n.*1248C>A) | gnomAD v4 |
19 | g.18869330A= | CA2326567842 | CERS1,GDF1 | c.*655T= (n.*655T=) c.386T= (p.Val129=) c.*1247T= (n.*1247T=) | |
19 | g.18869330A>C | CA404863375 | CERS1,GDF1 | c.*655T>G (n.*655T>G) c.386T>G (p.Val129Gly) c.*1247T>G (n.*1247T>G) | |
19 | g.18869330A>G | CA404863376 | CERS1,GDF1 | c.*655T>C (n.*655T>C) c.386T>C (p.Val129Ala) c.*1247T>C (n.*1247T>C) | dbSNP |
19 | g.18869330A>T | CA404863377 | CERS1,GDF1 | c.*655T>A (n.*655T>A) c.386T>A (p.Val129Asp) c.*1247T>A (n.*1247T>A) | gnomAD v4 |
19 | g.18869331C>A | CA404863380 | CERS1,GDF1 | c.*654G>T (n.*654G>T) c.385G>T (p.Val129Phe) c.*1246G>T (n.*1246G>T) | gnomAD v4 |
19 | g.18869331C= | CA2326567843 | CERS1,GDF1 | c.*654G= (n.*654G=) c.385G= (p.Val129=) c.*1246G= (n.*1246G=) | |
19 | g.18869331C>G | CA404863379 | CERS1,GDF1 | c.*654G>C (n.*654G>C) c.385G>C (p.Val129Leu) c.*1246G>C (n.*1246G>C) | dbSNP gnomAD v4 |
19 | g.18869331C>T | CA404863378 | CERS1,GDF1 | c.*654G>A (n.*654G>A) c.385G>A (p.Val129Ile) c.*1246G>A (n.*1246G>A) | gnomAD v4 |
19 | g.18869332T>A | CA506118247 | CERS1,GDF1 | c.*653A>T (n.*653A>T) c.384A>T (p.Thr128=) c.*1245A>T (n.*1245A>T) | gnomAD v4 |
19 | g.18869332T>C | CA506118248 | CERS1,GDF1 | c.*653A>G (n.*653A>G) c.384A>G (p.Thr128=) c.*1245A>G (n.*1245A>G) | |
19 | g.18869332T>G | CA506118250 | CERS1,GDF1 | c.*653A>C (n.*653A>C) c.384A>C (p.Thr128=) c.*1245A>C (n.*1245A>C) | |
19 | g.18869333G>A | CA404863381 | CERS1,GDF1 | c.*652C>T (n.*652C>T) c.383C>T (p.Thr128Ile) c.*1244C>T (n.*1244C>T) | gnomAD v4 |
19 | g.18869333G>C | CA404863382 | CERS1,GDF1 | c.*652C>G (n.*652C>G) c.383C>G (p.Thr128Arg) c.*1244C>G (n.*1244C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869333G= | CA2326567844 | CERS1,GDF1 | c.*652C= (n.*652C=) c.383C= (p.Thr128=) c.*1244C= (n.*1244C=) | |
19 | g.18869333G>T | CA404863383 | CERS1,GDF1 | c.*652C>A (n.*652C>A) c.383C>A (p.Thr128Lys) c.*1244C>A (n.*1244C>A) | gnomAD v4 |
19 | g.18869334T>A | CA404863384 | CERS1,GDF1 | c.*651A>T (n.*651A>T) c.382A>T (p.Thr128Ser) c.*1243A>T (n.*1243A>T) | gnomAD v4 |
19 | g.18869334T>C | CA404863385 | CERS1,GDF1 | c.*651A>G (n.*651A>G) c.382A>G (p.Thr128Ala) c.*1243A>G (n.*1243A>G) | |
19 | g.18869334T>G | CA9317935 | CERS1,GDF1 | c.*651A>C (n.*651A>C) c.382A>C (p.Thr128Pro) c.*1243A>C (n.*1243A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869334T= | CA2326567845 | CERS1,GDF1 | c.*651A= (n.*651A=) c.382A= (p.Thr128=) c.*1243A= (n.*1243A=) | |
19 | g.18869335C>A | CA404863386 | CERS1,GDF1 | c.*650G>T (n.*650G>T) c.381G>T (p.Trp127Cys) c.*1242G>T (n.*1242G>T) | gnomAD v4 |
19 | g.18869335C>G | CA404863388 | CERS1,GDF1 | c.*650G>C (n.*650G>C) c.381G>C (p.Trp127Cys) c.*1242G>C (n.*1242G>C) | |
19 | g.18869335C>T | CA404863387 | CERS1,GDF1 | c.*650G>A (n.*650G>A) c.381G>A (p.Trp127Ter) c.*1242G>A (n.*1242G>A) | gnomAD v4 |
19 | g.18869336del | CA2813841595 | CERS1,GDF1 | c.*650del (n.*650del) c.381del (p.Trp127Ter) c.*1242del (n.*1242del) | |
19 | g.18869336C>A | CA404863389 | CERS1,GDF1 | c.*649G>T (n.*649G>T) c.380G>T (p.Trp127Leu) c.*1241G>T (n.*1241G>T) | gnomAD v4 |
19 | g.18869336C= | CA2326567846 | CERS1,GDF1 | c.*649G= (n.*649G=) c.380G= (p.Trp127=) c.*1241G= (n.*1241G=) | |
19 | g.18869336C>G | CA404863390 | CERS1,GDF1 | c.*649G>C (n.*649G>C) c.380G>C (p.Trp127Ser) c.*1241G>C (n.*1241G>C) | |
19 | g.18869336C>T | CA306231865 | CERS1,GDF1 | c.*649G>A (n.*649G>A) c.380G>A (p.Trp127Ter) c.*1241G>A (n.*1241G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869337A= | CA2326567847 | CERS1,GDF1 | c.*648T= (n.*648T=) c.379T= (p.Trp127=) c.*1240T= (n.*1240T=) | |
19 | g.18869337A>C | CA404863391 | CERS1,GDF1 | c.*648T>G (n.*648T>G) c.379T>G (p.Trp127Gly) c.*1240T>G (n.*1240T>G) | |
19 | g.18869337A>G | CA404863392 | CERS1,GDF1 | c.*648T>C (n.*648T>C) c.379T>C (p.Trp127Arg) c.*1240T>C (n.*1240T>C) | dbSNP gnomAD v4 |
19 | g.18869337A>T | CA404863393 | CERS1,GDF1 | c.*648T>A (n.*648T>A) c.379T>A (p.Trp127Arg) c.*1240T>A (n.*1240T>A) | gnomAD v4 |
19 | g.18869338C>A | CA404863394 | CERS1,GDF1 | c.*647G>T (n.*647G>T) c.378G>T (p.Glu126Asp) c.*1239G>T (n.*1239G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869338C= | CA2326567848 | CERS1,GDF1 | c.*647G= (n.*647G=) c.378G= (p.Glu126=) c.*1239G= (n.*1239G=) | |
19 | g.18869338C>G | CA404863395 | CERS1,GDF1 | c.*647G>C (n.*647G>C) c.378G>C (p.Glu126Asp) c.*1239G>C (n.*1239G>C) | |
19 | g.18869338C>T | CA506118261 | CERS1,GDF1 | c.*647G>A (n.*647G>A) c.378G>A (p.Glu126=) c.*1239G>A (n.*1239G>A) | gnomAD v4 |
19 | g.18869339T>A | CA404863396 | CERS1,GDF1 | c.*646A>T (n.*646A>T) c.377A>T (p.Glu126Val) c.*1238A>T (n.*1238A>T) | |
19 | g.18869339T>C | CA404863397 | CERS1,GDF1 | c.*646A>G (n.*646A>G) c.377A>G (p.Glu126Gly) c.*1238A>G (n.*1238A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869339T>G | CA404863398 | CERS1,GDF1 | c.*646A>C (n.*646A>C) c.377A>C (p.Glu126Ala) c.*1238A>C (n.*1238A>C) | |
19 | g.18869340C>A | CA9317936 | CERS1,GDF1 | c.*645G>T (n.*645G>T) c.376G>T (p.Glu126Ter) c.*1237G>T (n.*1237G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869340C= | CA2326567849 | CERS1,GDF1 | c.*645G= (n.*645G=) c.376G= (p.Glu126=) c.*1237G= (n.*1237G=) | |
19 | g.18869340C>G | CA404863399 | CERS1,GDF1 | c.*645G>C (n.*645G>C) c.376G>C (p.Glu126Gln) c.*1237G>C (n.*1237G>C) | |
19 | g.18869340C>T | CA9317937 | CERS1,GDF1 | c.*645G>A (n.*645G>A) c.376G>A (p.Glu126Lys) c.*1237G>A (n.*1237G>A) | dbSNP ExAC gnomAD v4 |
19 | g.18869341A>C | CA506118270 | CERS1,GDF1 | c.*644T>G (n.*644T>G) c.375T>G (p.Pro125=) c.*1236T>G (n.*1236T>G) | |
19 | g.18869341A>G | CA506118271 | CERS1,GDF1 | c.*644T>C (n.*644T>C) c.375T>C (p.Pro125=) c.*1236T>C (n.*1236T>C) | gnomAD v4 |
19 | g.18869341A>T | CA506118272 | CERS1,GDF1 | c.*644T>A (n.*644T>A) c.375T>A (p.Pro125=) c.*1236T>A (n.*1236T>A) | gnomAD v4 |
19 | g.18869342G>A | CA404863400 | CERS1,GDF1 | c.*643C>T (n.*643C>T) c.374C>T (p.Pro125Leu) c.*1235C>T (n.*1235C>T) | gnomAD v4 |
19 | g.18869342G>C | CA404863401 | CERS1,GDF1 | c.*643C>G (n.*643C>G) c.374C>G (p.Pro125Arg) c.*1235C>G (n.*1235C>G) | gnomAD v4 |
19 | g.18869342G= | CA2326567850 | CERS1,GDF1 | c.*643C= (n.*643C=) c.374C= (p.Pro125=) c.*1235C= (n.*1235C=) | |
19 | g.18869342G>T | CA404863402 | CERS1,GDF1 | c.*643C>A (n.*643C>A) c.374C>A (p.Pro125His) c.*1235C>A (n.*1235C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869344del | CA2583634799 | CERS1,GDF1 | c.*643del (n.*643del) c.374del (p.Pro125LeufsTer?) c.*1235del (n.*1235del) | gnomAD v4 |
19 | g.18869342_18869365delinsGGGCAATGCCCCGCGGCCGAGGCA | CA2326567851 | CERS1,GDF1 | c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC) c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (p.Pro117=) c.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC) | |
19 | g.18869343G>A | CA404863403 | CERS1,GDF1 | c.*642C>T (n.*642C>T) c.373C>T (p.Pro125Ser) c.*1234C>T (n.*1234C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869343G>C | CA404863404 | CERS1,GDF1 | c.*642C>G (n.*642C>G) c.373C>G (p.Pro125Ala) c.*1234C>G (n.*1234C>G) | |
19 | g.18869343G= | CA2326567852 | CERS1,GDF1 | c.*642C= (n.*642C=) c.373C= (p.Pro125=) c.*1234C= (n.*1234C=) | |
19 | g.18869343G>T | CA404863405 | CERS1,GDF1 | c.*642C>A (n.*642C>A) c.373C>A (p.Pro125Thr) c.*1234C>A (n.*1234C>A) | gnomAD v4 |
19 | g.18869346_18869368del | CA9317938 | CERS1,GDF1 | c.*620_*642del (n.*620_*642del) c.351_373del (p.Ala118Ter) c.*1212_*1234del (n.*1212_*1234del) | dbSNP ExAC gnomAD v4 |
19 | g.18869344G>A | CA9317939 | CERS1,GDF1 | c.*641C>T (n.*641C>T) c.372C>T (p.Cys124=) c.*1233C>T (n.*1233C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869344G>C | CA404863406 | CERS1,GDF1 | c.*641C>G (n.*641C>G) c.372C>G (p.Cys124Trp) c.*1233C>G (n.*1233C>G) | |
19 | g.18869344G= | CA2326567853 | CERS1,GDF1 | c.*641C= (n.*641C=) c.372C= (p.Cys124=) c.*1233C= (n.*1233C=) | |
19 | g.18869344G>T | CA404863407 | CERS1,GDF1 | c.*641C>A (n.*641C>A) c.372C>A (p.Cys124Ter) c.*1233C>A (n.*1233C>A) | dbSNP gnomAD v4 |
19 | g.18869345C>A | CA16608982 | CERS1,GDF1 | c.*640G>T (n.*640G>T) c.371G>T (p.Cys124Phe) c.*1232G>T (n.*1232G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869345C= | CA2326567854 | CERS1,GDF1 | c.*640G= (n.*640G=) c.371G= (p.Cys124=) c.*1232G= (n.*1232G=) | |
19 | g.18869345C>G | CA404863408 | CERS1,GDF1 | c.*640G>C (n.*640G>C) c.371G>C (p.Cys124Ser) c.*1232G>C (n.*1232G>C) | |
19 | g.18869345C>T | CA404863409 | CERS1,GDF1 | c.*640G>A (n.*640G>A) c.371G>A (p.Cys124Tyr) c.*1232G>A (n.*1232G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869346A>C | CA404863410 | CERS1,GDF1 | c.*639T>G (n.*639T>G) c.370T>G (p.Cys124Gly) c.*1231T>G (n.*1231T>G) | |
19 | g.18869346A>G | CA404863412 | CERS1,GDF1 | c.*639T>C (n.*639T>C) c.370T>C (p.Cys124Arg) c.*1231T>C (n.*1231T>C) | |
19 | g.18869346A>T | CA404863411 | CERS1,GDF1 | c.*639T>A (n.*639T>A) c.370T>A (p.Cys124Ser) c.*1231T>A (n.*1231T>A) | gnomAD v4 |
19 | g.18869347A>C | CA404863413 | CERS1,GDF1 | c.*638T>G (n.*638T>G) c.369T>G (p.His123Gln) c.*1230T>G (n.*1230T>G) | |
19 | g.18869347A>G | CA506118286 | CERS1,GDF1 | c.*638T>C (n.*638T>C) c.369T>C (p.His123=) c.*1230T>C (n.*1230T>C) | gnomAD v4 |
19 | g.18869347A>T | CA404863414 | CERS1,GDF1 | c.*638T>A (n.*638T>A) c.369T>A (p.His123Gln) c.*1230T>A (n.*1230T>A) | gnomAD v4 |
19 | g.18869348T>A | CA404863415 | CERS1,GDF1 | c.*637A>T (n.*637A>T) c.368A>T (p.His123Leu) c.*1229A>T (n.*1229A>T) | |
19 | g.18869348T>C | CA404863416 | CERS1,GDF1 | c.*637A>G (n.*637A>G) c.368A>G (p.His123Arg) c.*1229A>G (n.*1229A>G) | gnomAD v4 |
19 | g.18869348T>G | CA404863417 | CERS1,GDF1 | c.*637A>C (n.*637A>C) c.368A>C (p.His123Pro) c.*1229A>C (n.*1229A>C) | |
19 | g.18869349G>A | CA404863418 | CERS1,GDF1 | c.*636C>T (n.*636C>T) c.367C>T (p.His123Tyr) c.*1228C>T (n.*1228C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869349G>C | CA404863419 | CERS1,GDF1 | c.*636C>G (n.*636C>G) c.367C>G (p.His123Asp) c.*1228C>G (n.*1228C>G) | |
19 | g.18869349G= | CA2326567855 | CERS1,GDF1 | c.*636C= (n.*636C=) c.367C= (p.His123=) c.*1228C= (n.*1228C=) | |
19 | g.18869349G>T | CA9317940 | CERS1,GDF1 | c.*636C>A (n.*636C>A) c.367C>A (p.His123Asn) c.*1228C>A (n.*1228C>A) | dbSNP ExAC gnomAD v4 |
19 | g.18869350C>A | CA506118290 | CERS1,GDF1 | c.*635G>T (n.*635G>T) c.366G>T (p.Gly122=) c.*1227G>T (n.*1227G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869350C= | CA2326567856 | CERS1,GDF1 | c.*635G= (n.*635G=) c.366G= (p.Gly122=) c.*1227G= (n.*1227G=) | |
19 | g.18869350C>G | CA506118292 | CERS1,GDF1 | c.*635G>C (n.*635G>C) c.366G>C (p.Gly122=) c.*1227G>C (n.*1227G>C) | |
19 | g.18869350C>T | CA506118295 | CERS1,GDF1 | c.*635G>A (n.*635G>A) c.366G>A (p.Gly122=) c.*1227G>A (n.*1227G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869353del | CA2583634800 | CERS1,GDF1 | c.*635del (n.*635del) c.366del (p.His123IlefsTer?) c.*1227del (n.*1227del) | gnomAD v4 |
19 | g.18869351C>A | CA9317941 | CERS1,GDF1 | c.*634G>T (n.*634G>T) c.365G>T (p.Gly122Val) c.*1226G>T (n.*1226G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869351C= | CA2326567857 | CERS1,GDF1 | c.*634G= (n.*634G=) c.365G= (p.Gly122=) c.*1226G= (n.*1226G=) | |
19 | g.18869351C>G | CA404863420 | CERS1,GDF1 | c.*634G>C (n.*634G>C) c.365G>C (p.Gly122Ala) c.*1226G>C (n.*1226G>C) | |
19 | g.18869351C>T | CA404863421 | CERS1,GDF1 | c.*634G>A (n.*634G>A) c.365G>A (p.Gly122Glu) c.*1226G>A (n.*1226G>A) | gnomAD v4 |
19 | g.18869352C>A | CA404863423 | CERS1,GDF1 | c.*633G>T (n.*633G>T) c.364G>T (p.Gly122Trp) c.*1225G>T (n.*1225G>T) | gnomAD v4 |
19 | g.18869352C= | CA2326567858 | CERS1,GDF1 | c.*633G= (n.*633G=) c.364G= (p.Gly122=) c.*1225G= (n.*1225G=) | |
19 | g.18869352C>G | CA9317942 | CERS1,GDF1 | c.*633G>C (n.*633G>C) c.364G>C (p.Gly122Arg) c.*1225G>C (n.*1225G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869352C>T | CA404863422 | CERS1,GDF1 | c.*633G>A (n.*633G>A) c.364G>A (p.Gly122Arg) c.*1225G>A (n.*1225G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869353C>A | CA506118302 | CERS1,GDF1 | c.*632G>T (n.*632G>T) c.363G>T (p.Ala121=) c.*1224G>T (n.*1224G>T) | gnomAD v4 |
19 | g.18869353C= | CA2326567859 | CERS1,GDF1 | c.*632G= (n.*632G=) c.363G= (p.Ala121=) c.*1224G= (n.*1224G=) | |
19 | g.18869353C>G | CA506118303 | CERS1,GDF1 | c.*632G>C (n.*632G>C) c.363G>C (p.Ala121=) c.*1224G>C (n.*1224G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869353C>T | CA506118304 | CERS1,GDF1 | c.*632G>A (n.*632G>A) c.363G>A (p.Ala121=) c.*1224G>A (n.*1224G>A) | dbSNP gnomAD v4 |
19 | g.18869355_18869356del | CA2813841596 | CERS1,GDF1 | c.*631_*632del (n.*631_*632del) c.362_363del (p.Ala121GlyfsTer5) c.*1223_*1224del (n.*1223_*1224del) | |
19 | g.18869354G>A | CA404863425 | CERS1,GDF1 | c.*631C>T (n.*631C>T) c.362C>T (p.Ala121Val) c.*1223C>T (n.*1223C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869354G>C | CA404863424 | CERS1,GDF1 | c.*631C>G (n.*631C>G) c.362C>G (p.Ala121Gly) c.*1223C>G (n.*1223C>G) | |
19 | g.18869354G= | CA2326567860 | CERS1,GDF1 | c.*631C= (n.*631C=) c.362C= (p.Ala121=) c.*1223C= (n.*1223C=) | |
19 | g.18869354G>T | CA404863426 | CERS1,GDF1 | c.*631C>A (n.*631C>A) c.362C>A (p.Ala121Glu) c.*1223C>A (n.*1223C>A) | gnomAD v4 |
19 | g.18869355C>A | CA9317943 | CERS1,GDF1 | c.*630G>T (n.*630G>T) c.361G>T (p.Ala121Ser) c.*1222G>T (n.*1222G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869355C= | CA2326567861 | CERS1,GDF1 | c.*630G= (n.*630G=) c.361G= (p.Ala121=) c.*1222G= (n.*1222G=) | |
19 | g.18869355C>G | CA404863427 | CERS1,GDF1 | c.*630G>C (n.*630G>C) c.361G>C (p.Ala121Pro) c.*1222G>C (n.*1222G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869355C>T | CA404863428 | CERS1,GDF1 | c.*630G>A (n.*630G>A) c.361G>A (p.Ala121Thr) c.*1222G>A (n.*1222G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869356G>A | CA9317944 | CERS1,GDF1 | c.*629C>T (n.*629C>T) c.360C>T (p.Ala120=) c.*1221C>T (n.*1221C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869356G>C | CA506118313 | CERS1,GDF1 | c.*629C>G (n.*629C>G) c.360C>G (p.Ala120=) c.*1221C>G (n.*1221C>G) | |
19 | g.18869356G= | CA2326567862 | CERS1,GDF1 | c.*629C= (n.*629C=) c.360C= (p.Ala120=) c.*1221C= (n.*1221C=) | |
19 | g.18869356G>T | CA506118312 | CERS1,GDF1 | c.*629C>A (n.*629C>A) c.360C>A (p.Ala120=) c.*1221C>A (n.*1221C>A) | gnomAD v4 |
19 | g.18869357G>A | CA404863429 | CERS1,GDF1 | c.*628C>T (n.*628C>T) c.359C>T (p.Ala120Val) c.*1220C>T (n.*1220C>T) | gnomAD v4 |
19 | g.18869357G>C | CA404863430 | CERS1,GDF1 | c.*628C>G (n.*628C>G) c.359C>G (p.Ala120Gly) c.*1220C>G (n.*1220C>G) | |
19 | g.18869357G>T | CA404863431 | CERS1,GDF1 | c.*628C>A (n.*628C>A) c.359C>A (p.Ala120Asp) c.*1220C>A (n.*1220C>A) | gnomAD v4 |
19 | g.18869357_18869358dup | CA2576726653 | CERS1,GDF1 | c.*627_*628dup (n.*627_*628dup) c.358_359dup (p.Ala121ProfsTer?) c.*1219_*1220dup (n.*1219_*1220dup) | |
19 | g.18869358C>A | CA404863432 | CERS1,GDF1 | c.*627G>T (n.*627G>T) c.358G>T (p.Ala120Ser) c.*1219G>T (n.*1219G>T) | gnomAD v4 |
19 | g.18869358C= | CA2326567863 | CERS1,GDF1 | c.*627G= (n.*627G=) c.358G= (p.Ala120=) c.*1219G= (n.*1219G=) | |
19 | g.18869358C>G | CA404863434 | CERS1,GDF1 | c.*627G>C (n.*627G>C) c.358G>C (p.Ala120Pro) c.*1219G>C (n.*1219G>C) | gnomAD v4 |
19 | g.18869358C>T | CA404863433 | CERS1,GDF1 | c.*627G>A (n.*627G>A) c.358G>A (p.Ala120Thr) c.*1219G>A (n.*1219G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869359del | CA2735826607 | CERS1,GDF1 | c.*627del (n.*627del) c.358del (p.Ala120ProfsTer?) c.*1219del (n.*1219del) | dbSNP |
19 | g.18869359C>A | CA506118324 | CERS1,GDF1 | c.*626G>T (n.*626G>T) c.357G>T (p.Ser119=) c.*1218G>T (n.*1218G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869359C= | CA2326567864 | CERS1,GDF1 | c.*626G= (n.*626G=) c.357G= (p.Ser119=) c.*1218G= (n.*1218G=) | |
19 | g.18869359C>G | CA506118325 | CERS1,GDF1 | c.*626G>C (n.*626G>C) c.357G>C (p.Ser119=) c.*1218G>C (n.*1218G>C) | |
19 | g.18869359C>T | CA9317945 | CERS1,GDF1 | c.*626G>A (n.*626G>A) c.357G>A (p.Ser119=) c.*1218G>A (n.*1218G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869360G>A | CA404863435 | CERS1,GDF1 | c.*625C>T (n.*625C>T) c.356C>T (p.Ser119Leu) c.*1217C>T (n.*1217C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869360G>C | CA404863436 | CERS1,GDF1 | c.*625C>G (n.*625C>G) c.356C>G (p.Ser119Trp) c.*1217C>G (n.*1217C>G) | gnomAD v4 |
19 | g.18869360G= | CA2326567865 | CERS1,GDF1 | c.*625C= (n.*625C=) c.356C= (p.Ser119=) c.*1217C= (n.*1217C=) | |
19 | g.18869360G>T | CA404863437 | CERS1,GDF1 | c.*625C>A (n.*625C>A) c.356C>A (p.Ser119Ter) c.*1217C>A (n.*1217C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869361A>C | CA404863438 | CERS1,GDF1 | c.*624T>G (n.*624T>G) c.355T>G (p.Ser119Ala) c.*1216T>G (n.*1216T>G) | |
19 | g.18869361A>G | CA404863440 | CERS1,GDF1 | c.*624T>C (n.*624T>C) c.355T>C (p.Ser119Pro) c.*1216T>C (n.*1216T>C) | gnomAD v4 |
19 | g.18869361A>T | CA404863439 | CERS1,GDF1 | c.*624T>A (n.*624T>A) c.355T>A (p.Ser119Thr) c.*1216T>A (n.*1216T>A) | |
19 | g.18869362G>A | CA9317946 | CERS1,GDF1 | c.*623C>T (n.*623C>T) c.354C>T (p.Ala118=) c.*1215C>T (n.*1215C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869362G>C | CA506118333 | CERS1,GDF1 | c.*623C>G (n.*623C>G) c.354C>G (p.Ala118=) c.*1215C>G (n.*1215C>G) | |
19 | g.18869362G= | CA2326567866 | CERS1,GDF1 | c.*623C= (n.*623C=) c.354C= (p.Ala118=) c.*1215C= (n.*1215C=) | |
19 | g.18869362G>T | CA506118334 | CERS1,GDF1 | c.*623C>A (n.*623C>A) c.354C>A (p.Ala118=) c.*1215C>A (n.*1215C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869363G>A | CA9317947 | CERS1,GDF1 | c.*622C>T (n.*622C>T) c.353C>T (p.Ala118Val) c.*1214C>T (n.*1214C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869363G>C | CA404863441 | CERS1,GDF1 | c.*622C>G (n.*622C>G) c.353C>G (p.Ala118Gly) c.*1214C>G (n.*1214C>G) | |
19 | g.18869363G= | CA2326567867 | CERS1,GDF1 | c.*622C= (n.*622C=) c.353C= (p.Ala118=) c.*1214C= (n.*1214C=) | |
19 | g.18869363G>T | CA404863442 | CERS1,GDF1 | c.*622C>A (n.*622C>A) c.353C>A (p.Ala118Asp) c.*1214C>A (n.*1214C>A) | gnomAD v4 |
19 | g.18869364C>A | CA404863443 | CERS1,GDF1 | c.*621G>T (n.*621G>T) c.352G>T (p.Ala118Ser) c.*1213G>T (n.*1213G>T) | gnomAD v4 |
19 | g.18869364C>G | CA404863444 | CERS1,GDF1 | c.*621G>C (n.*621G>C) c.352G>C (p.Ala118Pro) c.*1213G>C (n.*1213G>C) | |
19 | g.18869364C>T | CA404863445 | CERS1,GDF1 | c.*621G>A (n.*621G>A) c.352G>A (p.Ala118Thr) c.*1213G>A (n.*1213G>A) | gnomAD v4 |
19 | g.18869365A= | CA2326567868 | CERS1,GDF1 | c.*620T= (n.*620T=) c.351T= (p.Pro117=) c.*1212T= (n.*1212T=) | |
19 | g.18869365A>C | CA506118341 | CERS1,GDF1 | c.*620T>G (n.*620T>G) c.351T>G (p.Pro117=) c.*1212T>G (n.*1212T>G) | |
19 | g.18869365A>G | CA506118343 | CERS1,GDF1 | c.*620T>C (n.*620T>C) c.351T>C (p.Pro117=) c.*1212T>C (n.*1212T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869365A>T | CA506118344 | CERS1,GDF1 | c.*620T>A (n.*620T>A) c.351T>A (p.Pro117=) c.*1212T>A (n.*1212T>A) | |
19 | g.18869366G>A | CA404863446 | CERS1,GDF1 | c.*619C>T (n.*619C>T) c.350C>T (p.Pro117Leu) c.*1211C>T (n.*1211C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869366G>C | CA404863447 | CERS1,GDF1 | c.*619C>G (n.*619C>G) c.350C>G (p.Pro117Arg) c.*1211C>G (n.*1211C>G) | dbSNP gnomAD v4 |
19 | g.18869366G= | CA2326567869 | CERS1,GDF1 | c.*619C= (n.*619C=) c.350C= (p.Pro117=) c.*1211C= (n.*1211C=) | |
19 | g.18869366G>T | CA404863448 | CERS1,GDF1 | c.*619C>A (n.*619C>A) c.350C>A (p.Pro117His) c.*1211C>A (n.*1211C>A) | dbSNP gnomAD v4 |
19 | g.18869367G>A | CA404863451 | CERS1,GDF1 | c.*618C>T (n.*618C>T) c.349C>T (p.Pro117Ser) c.*1210C>T (n.*1210C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869367G>C | CA404863450 | CERS1,GDF1 | c.*618C>G (n.*618C>G) c.349C>G (p.Pro117Ala) c.*1210C>G (n.*1210C>G) | |
19 | g.18869367G= | CA2326567870 | CERS1,GDF1 | c.*618C= (n.*618C=) c.349C= (p.Pro117=) c.*1210C= (n.*1210C=) | |
19 | g.18869367G>T | CA404863449 | CERS1,GDF1 | c.*618C>A (n.*618C>A) c.349C>A (p.Pro117Thr) c.*1210C>A (n.*1210C>A) | gnomAD v4 |
19 | g.18869368C>A | CA404863452 | CERS1,GDF1 | c.*617G>T (n.*617G>T) c.348G>T (p.Glu116Asp) c.*1209G>T (n.*1209G>T) | dbSNP gnomAD v4 |
19 | g.18869368C>G | CA404863453 | CERS1,GDF1 | c.*617G>C (n.*617G>C) c.348G>C (p.Glu116Asp) c.*1209G>C (n.*1209G>C) | gnomAD v4 |
19 | g.18869368C>T | CA506118352 | CERS1,GDF1 | c.*617G>A (n.*617G>A) c.348G>A (p.Glu116=) c.*1209G>A (n.*1209G>A) | gnomAD v4 |
19 | g.18869369T>A | CA404863454 | CERS1,GDF1 | c.*616A>T (n.*616A>T) c.347A>T (p.Glu116Val) c.*1208A>T (n.*1208A>T) | |
19 | g.18869369T>C | CA404863455 | CERS1,GDF1 | c.*616A>G (n.*616A>G) c.347A>G (p.Glu116Gly) c.*1208A>G (n.*1208A>G) | dbSNP gnomAD v4 |
19 | g.18869369T>G | CA404863456 | CERS1,GDF1 | c.*616A>C (n.*616A>C) c.347A>C (p.Glu116Ala) c.*1208A>C (n.*1208A>C) | |
19 | g.18869370C>A | CA404863457 | CERS1,GDF1 | c.*615G>T (n.*615G>T) c.346G>T (p.Glu116Ter) c.*1207G>T (n.*1207G>T) | gnomAD v4 |
19 | g.18869370C= | CA2326567871 | CERS1,GDF1 | c.*615G= (n.*615G=) c.346G= (p.Glu116=) c.*1207G= (n.*1207G=) | |
19 | g.18869370C>G | CA404863458 | CERS1,GDF1 | c.*615G>C (n.*615G>C) c.346G>C (p.Glu116Gln) c.*1207G>C (n.*1207G>C) | dbSNP |
19 | g.18869370C>T | CA404863459 | CERS1,GDF1 | c.*615G>A (n.*615G>A) c.346G>A (p.Glu116Lys) c.*1207G>A (n.*1207G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869372_18869391del | CA2576726654 | CERS1,GDF1 | c.*596_*615del c.327_346del c.*1188_*1207del (n.*1188_*1207del) | |
19 | g.18869371C>A | CA506118358 | CERS1,GDF1 | c.*614G>T (n.*614G>T) c.345G>T (p.Ser115=) c.*1206G>T (n.*1206G>T) | gnomAD v4 |
19 | g.18869371C= | CA2326567872 | CERS1,GDF1 | c.*614G= (n.*614G=) c.345G= (p.Ser115=) c.*1206G= (n.*1206G=) | |
19 | g.18869371C>G | CA506118360 | CERS1,GDF1 | c.*614G>C (n.*614G>C) c.345G>C (p.Ser115=) c.*1206G>C (n.*1206G>C) | |
19 | g.18869371C>T | CA9317948 | CERS1,GDF1 | c.*614G>A (n.*614G>A) c.345G>A (p.Ser115=) c.*1206G>A (n.*1206G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869372G>A | CA9317949 | CERS1,GDF1 | c.*613C>T (n.*613C>T) c.344C>T (p.Ser115Leu) c.*1205C>T (n.*1205C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869372G>C | CA404863460 | CERS1,GDF1 | c.*613C>G (n.*613C>G) c.344C>G (p.Ser115Trp) c.*1205C>G (n.*1205C>G) | dbSNP gnomAD v4 |
19 | g.18869372G= | CA2326567873 | CERS1,GDF1 | c.*613C= (n.*613C=) c.344C= (p.Ser115=) c.*1205C= (n.*1205C=) | |
19 | g.18869372G>T | CA404863461 | CERS1,GDF1 | c.*613C>A (n.*613C>A) c.344C>A (p.Ser115Ter) c.*1205C>A (n.*1205C>A) | gnomAD v4 |
19 | g.18869373A>C | CA404863463 | CERS1,GDF1 | c.*612T>G (n.*612T>G) c.343T>G (p.Ser115Ala) c.*1204T>G (n.*1204T>G) | |
19 | g.18869373A>G | CA404863464 | CERS1,GDF1 | c.*612T>C (n.*612T>C) c.343T>C (p.Ser115Pro) c.*1204T>C (n.*1204T>C) | gnomAD v4 |
19 | g.18869373A>T | CA404863462 | CERS1,GDF1 | c.*612T>A (n.*612T>A) c.343T>A (p.Ser115Thr) c.*1204T>A (n.*1204T>A) | gnomAD v4 |
19 | g.18869374G>A | CA506118369 | CERS1,GDF1 | c.*611C>T (n.*611C>T) c.342C>T (p.Ala114=) c.*1203C>T (n.*1203C>T) | |
19 | g.18869374G>C | CA506118370 | CERS1,GDF1 | c.*611C>G (n.*611C>G) c.342C>G (p.Ala114=) c.*1203C>G (n.*1203C>G) | |
19 | g.18869374G= | CA2326567874 | CERS1,GDF1 | c.*611C= (n.*611C=) c.342C= (p.Ala114=) c.*1203C= (n.*1203C=) | |
19 | g.18869374G>T | CA506118372 | CERS1,GDF1 | c.*611C>A (n.*611C>A) c.342C>A (p.Ala114=) c.*1203C>A (n.*1203C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869375G>A | CA9317950 | CERS1,GDF1 | c.*610C>T (n.*610C>T) c.341C>T (p.Ala114Val) c.*1202C>T (n.*1202C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869375G>C | CA404863465 | CERS1,GDF1 | c.*610C>G (n.*610C>G) c.341C>G (p.Ala114Gly) c.*1202C>G (n.*1202C>G) | |
19 | g.18869375G= | CA2326567875 | CERS1,GDF1 | c.*610C= (n.*610C=) c.341C= (p.Ala114=) c.*1202C= (n.*1202C=) | |
19 | g.18869375G>T | CA404863466 | CERS1,GDF1 | c.*610C>A (n.*610C>A) c.341C>A (p.Ala114Asp) c.*1202C>A (n.*1202C>A) | gnomAD v4 |
19 | g.18869376C>A | CA9317951 | CERS1,GDF1 | c.*609G>T (n.*609G>T) c.340G>T (p.Ala114Ser) c.*1201G>T (n.*1201G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869376C= | CA2326567876 | CERS1,GDF1 | c.*609G= (n.*609G=) c.340G= (p.Ala114=) c.*1201G= (n.*1201G=) | |
19 | g.18869376C>G | CA404863467 | CERS1,GDF1 | c.*609G>C (n.*609G>C) c.340G>C (p.Ala114Pro) c.*1201G>C (n.*1201G>C) | |
19 | g.18869376C>T | CA306231975 | CERS1,GDF1 | c.*609G>A (n.*609G>A) c.340G>A (p.Ala114Thr) c.*1201G>A (n.*1201G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869377C>A | CA9317952 | CERS1,GDF1 | c.*608G>T (n.*608G>T) c.339G>T (p.Arg113=) c.*1200G>T (n.*1200G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869377C= | CA2326567877 | CERS1,GDF1 | c.*608G= (n.*608G=) c.339G= (p.Arg113=) c.*1200G= (n.*1200G=) | |
19 | g.18869377C>G | CA506118378 | CERS1,GDF1 | c.*608G>C (n.*608G>C) c.339G>C (p.Arg113=) c.*1200G>C (n.*1200G>C) | |
19 | g.18869377C>T | CA506118377 | CERS1,GDF1 | c.*608G>A (n.*608G>A) c.339G>A (p.Arg113=) c.*1200G>A (n.*1200G>A) | gnomAD v4 |
19 | g.18869378C>A | CA404863468 | CERS1,GDF1 | c.*607G>T (n.*607G>T) c.338G>T (p.Arg113Leu) c.*1199G>T (n.*1199G>T) | gnomAD v4 |
19 | g.18869378C= | CA2326567879 | CERS1,GDF1 | c.*607G= (n.*607G=) c.338G= (p.Arg113=) c.*1199G= (n.*1199G=) | |
19 | g.18869378C>G | CA404863469 | CERS1,GDF1 | c.*607G>C (n.*607G>C) c.338G>C (p.Arg113Pro) c.*1199G>C (n.*1199G>C) | |
19 | g.18869378C>T | CA404863470 | CERS1,GDF1 | c.*607G>A (n.*607G>A) c.338G>A (p.Arg113Gln) c.*1199G>A (n.*1199G>A) | dbSNP gnomAD v4 |
19 | g.18869378_18869379delinsCG | CA2326567878 | CERS1,GDF1 | c.*606_*607delinsCG (n.*606_*607delinsCG) c.337_338delinsCG (p.Arg113=) c.*1198_*1199delinsCG (n.*1198_*1199delinsCG) | |
19 | g.18869379G>A | CA404863471 | CERS1,GDF1 | c.*606C>T (n.*606C>T) c.337C>T (p.Arg113Trp) c.*1198C>T (n.*1198C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869379G>C | CA404863472 | CERS1,GDF1 | c.*606C>G (n.*606C>G) c.337C>G (p.Arg113Gly) c.*1198C>G (n.*1198C>G) | gnomAD v4 |
19 | g.18869379G= | CA2326567880 | CERS1,GDF1 | c.*606C= (n.*606C=) c.337C= (p.Arg113=) c.*1198C= (n.*1198C=) | |
19 | g.18869379G>T | CA506118386 | CERS1,GDF1 | c.*606C>A (n.*606C>A) c.337C>A (p.Arg113=) c.*1198C>A (n.*1198C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869381del | CA632627057 | CERS1,GDF1 | c.*606del (n.*606del) c.337del (p.Arg113GlyfsTer?) c.*1198del (n.*1198del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869380G>A | CA506118388 | CERS1,GDF1 | c.*605C>T (n.*605C>T) c.336C>T (p.Thr112=) c.*1197C>T (n.*1197C>T) | gnomAD v4 |
19 | g.18869380G>C | CA506118387 | CERS1,GDF1 | c.*605C>G (n.*605C>G) c.336C>G (p.Thr112=) c.*1197C>G (n.*1197C>G) | |
19 | g.18869380G= | CA2326567881 | CERS1,GDF1 | c.*605C= (n.*605C=) c.336C= (p.Thr112=) c.*1197C= (n.*1197C=) | |
19 | g.18869380G>T | CA9317953 | CERS1,GDF1 | c.*605C>A (n.*605C>A) c.336C>A (p.Thr112=) c.*1197C>A (n.*1197C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869381G>A | CA404863475 | CERS1,GDF1 | c.*604C>T (n.*604C>T) c.335C>T (p.Thr112Ile) c.*1196C>T (n.*1196C>T) | gnomAD v4 |
19 | g.18869381G>C | CA404863474 | CERS1,GDF1 | c.*604C>G (n.*604C>G) c.335C>G (p.Thr112Ser) c.*1196C>G (n.*1196C>G) | |
19 | g.18869381G>T | CA404863473 | CERS1,GDF1 | c.*604C>A (n.*604C>A) c.335C>A (p.Thr112Asn) c.*1196C>A (n.*1196C>A) | gnomAD v4 |
19 | g.18869382T>A | CA404863476 | CERS1,GDF1 | c.*603A>T (n.*603A>T) c.334A>T (p.Thr112Ser) c.*1195A>T (n.*1195A>T) | |
19 | g.18869382T>C | CA404863478 | CERS1,GDF1 | c.*603A>G (n.*603A>G) c.334A>G (p.Thr112Ala) c.*1195A>G (n.*1195A>G) | |
19 | g.18869382T>G | CA404863477 | CERS1,GDF1 | c.*603A>C (n.*603A>C) c.334A>C (p.Thr112Pro) c.*1195A>C (n.*1195A>C) | gnomAD v4 |
19 | g.18869383G>A | CA506118394 | CERS1,GDF1 | c.*602C>T (n.*602C>T) c.333C>T (p.Pro111=) c.*1194C>T (n.*1194C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869383G>C | CA506118399 | CERS1,GDF1 | c.*602C>G (n.*602C>G) c.333C>G (p.Pro111=) c.*1194C>G (n.*1194C>G) | |
19 | g.18869383G= | CA2326567882 | CERS1,GDF1 | c.*602C= (n.*602C=) c.333C= (p.Pro111=) c.*1194C= (n.*1194C=) | |
19 | g.18869383G>T | CA506118397 | CERS1,GDF1 | c.*602C>A (n.*602C>A) c.333C>A (p.Pro111=) c.*1194C>A (n.*1194C>A) | dbSNP gnomAD v2 |
19 | g.18869392_18869497del | CA2583634801 | CERS1,GDF1 | c.*595-98_*602del c.326-98_333del c.*1089_*1194del (n.*1089_*1194del) | gnomAD v4 |
19 | g.18869384G>A | CA404863479 | CERS1,GDF1 | c.*601C>T (n.*601C>T) c.332C>T (p.Pro111Leu) c.*1193C>T (n.*1193C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869384G>C | CA404863480 | CERS1,GDF1 | c.*601C>G (n.*601C>G) c.332C>G (p.Pro111Arg) c.*1193C>G (n.*1193C>G) | |
19 | g.18869384G= | CA2326567883 | CERS1,GDF1 | c.*601C= (n.*601C=) c.332C= (p.Pro111=) c.*1193C= (n.*1193C=) | |
19 | g.18869384G>T | CA404863481 | CERS1,GDF1 | c.*601C>A (n.*601C>A) c.332C>A (p.Pro111His) c.*1193C>A (n.*1193C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869385G>A | CA9317954 | CERS1,GDF1 | c.*600C>T (n.*600C>T) c.331C>T (p.Pro111Ser) c.*1192C>T (n.*1192C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869385G>C | CA404863482 | CERS1,GDF1 | c.*600C>G (n.*600C>G) c.331C>G (p.Pro111Ala) c.*1192C>G (n.*1192C>G) | |
19 | g.18869385G= | CA2326567884 | CERS1,GDF1 | c.*600C= (n.*600C=) c.331C= (p.Pro111=) c.*1192C= (n.*1192C=) | |
19 | g.18869385G>T | CA404863483 | CERS1,GDF1 | c.*600C>A (n.*600C>A) c.331C>A (p.Pro111Thr) c.*1192C>A (n.*1192C>A) | gnomAD v4 |
19 | g.18869386del | CA2583634802 | CERS1,GDF1 | c.*599del (n.*599del) c.330del (p.Thr112ProfsTer?) c.*1191del (n.*1191del) | gnomAD v4 |
19 | g.18869386C>A | CA9317955 | CERS1,GDF1 | c.*599G>T (n.*599G>T) c.330G>T (p.Ala110=) c.*1191G>T (n.*1191G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869386C= | CA2326567885 | CERS1,GDF1 | c.*599G= (n.*599G=) c.330G= (p.Ala110=) c.*1191G= (n.*1191G=) | |
19 | g.18869386C>G | CA506118406 | CERS1,GDF1 | c.*599G>C (n.*599G>C) c.330G>C (p.Ala110=) c.*1191G>C (n.*1191G>C) | gnomAD v4 |
19 | g.18869386C>T | CA9317956 | CERS1,GDF1 | c.*599G>A (n.*599G>A) c.330G>A (p.Ala110=) c.*1191G>A (n.*1191G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869387G>A | CA9317957 | CERS1,GDF1 | c.*598C>T (n.*598C>T) c.329C>T (p.Ala110Val) c.*1190C>T (n.*1190C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869387G>C | CA404863484 | CERS1,GDF1 | c.*598C>G (n.*598C>G) c.329C>G (p.Ala110Gly) c.*1190C>G (n.*1190C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869387G= | CA2326567886 | CERS1,GDF1 | c.*598C= (n.*598C=) c.329C= (p.Ala110=) c.*1190C= (n.*1190C=) | |
19 | g.18869387G>T | CA404863485 | CERS1,GDF1 | c.*598C>A (n.*598C>A) c.329C>A (p.Ala110Glu) c.*1190C>A (n.*1190C>A) | ClinVar gnomAD v4 |
19 | g.18869388C>A | CA404863488 | CERS1,GDF1 | c.*597G>T (n.*597G>T) c.328G>T (p.Ala110Ser) c.*1189G>T (n.*1189G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869388C= | CA2326567887 | CERS1,GDF1 | c.*597G= (n.*597G=) c.328G= (p.Ala110=) c.*1189G= (n.*1189G=) | |
19 | g.18869388C>G | CA404863487 | CERS1,GDF1 | c.*597G>C (n.*597G>C) c.328G>C (p.Ala110Pro) c.*1189G>C (n.*1189G>C) | |
19 | g.18869388C>T | CA404863486 | CERS1,GDF1 | c.*597G>A (n.*597G>A) c.328G>A (p.Ala110Thr) c.*1189G>A (n.*1189G>A) | gnomAD v4 |
19 | g.18869389A= | CA2326567888 | CERS1,GDF1 | c.*596T= (n.*596T=) c.327T= (p.Gly109=) c.*1188T= (n.*1188T=) | |
19 | g.18869389A>C | CA506118420 | CERS1,GDF1 | c.*596T>G (n.*596T>G) c.327T>G (p.Gly109=) c.*1188T>G (n.*1188T>G) | gnomAD v4 |
19 | g.18869389A>G | CA506118423 | CERS1,GDF1 | c.*596T>C (n.*596T>C) c.327T>C (p.Gly109=) c.*1188T>C (n.*1188T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869389A>T | CA506118422 | CERS1,GDF1 | c.*596T>A (n.*596T>A) c.327T>A (p.Gly109=) c.*1188T>A (n.*1188T>A) | |
19 | g.18869390C>A | CA404863489 | CERS1,GDF1 | c.*595G>T (n.*595G>T) c.326G>T (p.Gly109Val) c.*1187G>T (n.*1187G>T) | |
19 | g.18869390C>G | CA404863490 | CERS1,GDF1 | c.*595G>C (n.*595G>C) c.326G>C (p.Gly109Ala) c.*1187G>C (n.*1187G>C) | gnomAD v4 |
19 | g.18869390C>T | CA404863491 | CERS1,GDF1 | c.*595G>A (n.*595G>A) c.326G>A (p.Gly109Asp) c.*1187G>A (n.*1187G>A) | gnomAD v4 |
19 | g.18869391C>A | CA404863492 | CERS1,GDF1 | c.*595-1G>T (n.*595-1G>T) c.326-1G>T (n.326-1G>T) c.*1186G>T (n.*1186G>T) | gnomAD v4 |
19 | g.18869391C>G | CA404863493 | CERS1,GDF1 | c.*595-1G>C (n.*595-1G>C) c.326-1G>C (n.326-1G>C) c.*1186G>C (n.*1186G>C) | |
19 | g.18869391C>T | CA404863494 | CERS1,GDF1 | c.*595-1G>A (n.*595-1G>A) c.326-1G>A (n.326-1G>A) c.*1186G>A (n.*1186G>A) | |
19 | g.18869391_18869392delinsCT | CA2326567889 | CERS1,GDF1 | c.*595-2_*595-1delinsAG (n.*595-2_*595-1delinsAG) c.326-2_326-1delinsAG (n.326-2_326-1delinsAG) c.*1185_*1186delinsAG (n.*1185_*1186delinsAG) | |
19 | g.18869392del | CA9317958 | CERS1,GDF1 | c.*595-2del (n.*595-2del) c.326-2del (n.326-2del) c.*1185del (n.*1185del) | dbSNP ExAC |
19 | g.18869392T>A | CA404863495 | CERS1,GDF1 | c.*595-2A>T (n.*595-2A>T) c.326-2A>T (n.326-2A>T) c.*1185A>T (n.*1185A>T) | gnomAD v4 |
19 | g.18869392T>C | CA404863496 | CERS1,GDF1 | c.*595-2A>G (n.*595-2A>G) c.326-2A>G (n.326-2A>G) c.*1185A>G (n.*1185A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869392T>G | CA404863497 | CERS1,GDF1 | c.*595-2A>C (n.*595-2A>C) c.326-2A>C (n.326-2A>C) c.*1185A>C (n.*1185A>C) | gnomAD v4 |
19 | g.18869392T= | CA2326567890 | CERS1,GDF1 | c.*595-2A= (n.*595-2A=) c.326-2A= (n.326-2A=) c.*1185A= (n.*1185A=) | |
19 | g.18869393G>A | CA2583634803 | CERS1,GDF1 | c.*595-3C>T (n.*595-3C>T) c.326-3C>T (n.326-3C>T) c.*1184C>T (n.*1184C>T) | gnomAD v4 |
19 | g.18869393G= | CA2326567891 | CERS1,GDF1 | c.*595-3C= (n.*595-3C=) c.326-3C= (n.326-3C=) c.*1184C= (n.*1184C=) | |
19 | g.18869393G>T | CA632627058 | CERS1,GDF1 | c.*595-3C>A (n.*595-3C>A) c.326-3C>A (n.326-3C>A) c.*1184C>A (n.*1184C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869396del | CA2583634804 | CERS1,GDF1 | c.*595-3del (n.*595-3del) c.326-3del (n.326-3del) c.*1184del (n.*1184del) | dbSNP gnomAD v4 |
19 | g.18869394G= | CA2326567892 | CERS1,GDF1 | c.*595-4C= (n.*595-4C=) c.326-4C= (n.326-4C=) c.*1183C= (n.*1183C=) | |
19 | g.18869394G>T | CA632627059 | CERS1,GDF1 | c.*595-4C>A (n.*595-4C>A) c.326-4C>A (n.326-4C>A) c.*1183C>A (n.*1183C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869395G>A | CA2583634805 | CERS1,GDF1 | c.*595-5C>T (n.*595-5C>T) c.326-5C>T (n.326-5C>T) c.*1182C>T (n.*1182C>T) | gnomAD v4 |
19 | g.18869395G>T | CA2583634806 | CERS1,GDF1 | c.*595-5C>A (n.*595-5C>A) c.326-5C>A (n.326-5C>A) c.*1182C>A (n.*1182C>A) | gnomAD v4 |
19 | g.18869396G>A | CA632627060 | CERS1,GDF1 | c.*595-6C>T (n.*595-6C>T) c.326-6C>T (n.326-6C>T) c.*1181C>T (n.*1181C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869396G= | CA2326567893 | CERS1,GDF1 | c.*595-6C= (n.*595-6C=) c.326-6C= (n.326-6C=) c.*1181C= (n.*1181C=) | |
19 | g.18869396G>T | CA2583634807 | CERS1,GDF1 | c.*595-6C>A (n.*595-6C>A) c.326-6C>A (n.326-6C>A) c.*1181C>A (n.*1181C>A) | gnomAD v4 |
19 | g.18869397del | CA2583634808 | CERS1,GDF1 | c.*595-7del (n.*595-7del) c.326-7del (n.326-7del) c.*1180del (n.*1180del) | gnomAD v4 |
19 | g.18869397A>C | CA2583634809 | CERS1,GDF1 | c.*595-7T>G (n.*595-7T>G) c.326-7T>G (n.326-7T>G) c.*1180T>G (n.*1180T>G) | gnomAD v4 |
19 | g.18869397A>G | CA2583634810 | CERS1,GDF1 | c.*595-7T>C (n.*595-7T>C) c.326-7T>C (n.326-7T>C) c.*1180T>C (n.*1180T>C) | gnomAD v4 |
19 | g.18869397A>T | CA2583634811 | CERS1,GDF1 | c.*595-7T>A (n.*595-7T>A) c.326-7T>A (n.326-7T>A) c.*1180T>A (n.*1180T>A) | gnomAD v4 |
19 | g.18869398G>A | CA9317960 | CERS1,GDF1 | c.*595-8C>T (n.*595-8C>T) c.326-8C>T (n.326-8C>T) c.*1179C>T (n.*1179C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869398G= | CA2326567894 | CERS1,GDF1 | c.*595-8C= (n.*595-8C=) c.326-8C= (n.326-8C=) c.*1179C= (n.*1179C=) | |
19 | g.18869398G>T | CA9317959 | CERS1,GDF1 | c.*595-8C>A (n.*595-8C>A) c.326-8C>A (n.326-8C>A) c.*1179C>A (n.*1179C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869399G>A | CA2583634812 | CERS1,GDF1 | c.*595-9C>T (n.*595-9C>T) c.326-9C>T (n.326-9C>T) c.*1178C>T (n.*1178C>T) | gnomAD v4 |
19 | g.18869399G>T | CA2583634813 | CERS1,GDF1 | c.*595-9C>A (n.*595-9C>A) c.326-9C>A (n.326-9C>A) c.*1178C>A (n.*1178C>A) | gnomAD v4 |
19 | g.18869400T>C | CA632627061 | CERS1,GDF1 | c.*595-10A>G (n.*595-10A>G) c.326-10A>G (n.326-10A>G) c.*1177A>G (n.*1177A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869400T>G | CA994235948 | CERS1,GDF1 | c.*595-10A>C (n.*595-10A>C) c.326-10A>C (n.326-10A>C) c.*1177A>C (n.*1177A>C) | gnomAD v3 gnomAD v4 |
19 | g.18869400T= | CA2326567895 | CERS1,GDF1 | c.*595-10A= (n.*595-10A=) c.326-10A= (n.326-10A=) c.*1177A= (n.*1177A=) | |
19 | g.18869404_18869458del | CA9317961 | CERS1,GDF1 | c.*595-64_*595-10del (n.*595-64_*595-10del) c.326-64_326-10del (n.326-64_326-10del) c.*1123_*1177del (n.*1123_*1177del) | ExAC gnomAD v2 gnomAD v4 |
19 | g.18869401A>C | CA2583634815 | CERS1,GDF1 | c.*595-11T>G (n.*595-11T>G) c.326-11T>G (n.326-11T>G) c.*1176T>G (n.*1176T>G) | gnomAD v4 |
19 | g.18869401A>G | CA2583634816 | CERS1,GDF1 | c.*595-11T>C (n.*595-11T>C) c.326-11T>C (n.326-11T>C) c.*1176T>C (n.*1176T>C) | gnomAD v4 |
19 | g.18869401_18869415del | CA2583634814 | CERS1,GDF1 | c.*595-25_*595-11del (n.*595-25_*595-11del) c.326-25_326-11del (n.326-25_326-11del) c.*1162_*1176del (n.*1162_*1176del) | gnomAD v4 |
19 | g.18869402G>A | CA2583634817 | CERS1,GDF1 | c.*595-12C>T (n.*595-12C>T) c.326-12C>T (n.326-12C>T) c.*1175C>T (n.*1175C>T) | gnomAD v4 |
19 | g.18869402G= | CA2326567896 | CERS1,GDF1 | c.*595-12C= (n.*595-12C=) c.326-12C= (n.326-12C=) c.*1175C= (n.*1175C=) | |
19 | g.18869402G>T | CA9317962 | CERS1,GDF1 | c.*595-12C>A (n.*595-12C>A) c.326-12C>A (n.326-12C>A) c.*1175C>A (n.*1175C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869403G>A | CA632627062 | CERS1,GDF1 | c.*595-13C>T (n.*595-13C>T) c.326-13C>T (n.326-13C>T) c.*1174C>T (n.*1174C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869403G= | CA2326567897 | CERS1,GDF1 | c.*595-13C= (n.*595-13C=) c.326-13C= (n.326-13C=) c.*1174C= (n.*1174C=) | |
19 | g.18869403G>T | CA2583634818 | CERS1,GDF1 | c.*595-13C>A (n.*595-13C>A) c.326-13C>A (n.326-13C>A) c.*1174C>A (n.*1174C>A) | gnomAD v4 |
19 | g.18869403_18869404insT | CA2583634819 | CERS1,GDF1 | c.*595-14_*595-13insA (n.*595-14_*595-13insA) c.326-14_326-13insA (n.326-14_326-13insA) c.*1173_*1174insA (n.*1173_*1174insA) | gnomAD v4 |
19 | g.18869404A= | CA2326567898 | CERS1,GDF1 | c.*595-14T= (n.*595-14T=) c.326-14T= (n.326-14T=) c.*1173T= (n.*1173T=) | |
19 | g.18869404A>G | CA247597 | CERS1,GDF1 | c.*595-14T>C (n.*595-14T>C) c.326-14T>C (n.326-14T>C) c.*1173T>C (n.*1173T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869404A>T | CA2326567899 | CERS1,GDF1 | c.*595-14T>A (n.*595-14T>A) c.326-14T>A (n.326-14T>A) c.*1173T>A (n.*1173T>A) | dbSNP gnomAD v4 |
19 | g.18869404_18869405insGGG | CA2583634820 | CERS1,GDF1 | c.*595-15_*595-14insCCC (n.*595-15_*595-14insCCC) c.326-15_326-14insCCC (n.326-15_326-14insCCC) c.*1172_*1173insCCC (n.*1172_*1173insCCC) | gnomAD v4 |
19 | g.18869405A>G | CA2583634821 | CERS1,GDF1 | c.*595-15T>C (n.*595-15T>C) c.326-15T>C (n.326-15T>C) c.*1172T>C (n.*1172T>C) | gnomAD v4 |
19 | g.18869405A>T | CA2583634822 | CERS1,GDF1 | c.*595-15T>A (n.*595-15T>A) c.326-15T>A (n.326-15T>A) c.*1172T>A (n.*1172T>A) | gnomAD v4 |