Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120739388C>A | CA482146931 | ACADS | c.1179C>A (p.Gly393=) c.1167C>A (p.Gly389=) | |
12 | g.120739388C>G | CA482146933 | ACADS | c.1179C>G (p.Gly393=) c.1167C>G (p.Gly389=) | |
12 | g.120739388C>T | CA482146932 | ACADS | c.1179C>T (p.Gly393=) c.1167C>T (p.Gly389=) | ClinVar |
12 | g.120739389_120739390del | CA912973557 | ACADS | c.1180_1181del (p.Thr394GlnfsTer?) c.1168_1169del (p.Thr390GlnfsTer?) | |
12 | g.120739389A>C | CA386601948 | ACADS | c.1180A>C (p.Thr394Pro) c.1168A>C (p.Thr390Pro) | |
12 | g.120739389A>G | CA386601949 | ACADS | c.1180A>G (p.Thr394Ala) c.1168A>G (p.Thr390Ala) | |
12 | g.120739389A>T | CA386601950 | ACADS | c.1180A>T (p.Thr394Ser) c.1168A>T (p.Thr390Ser) | |
12 | g.120739389_120739390delinsAC | CA2067555846 | ACADS | c.1180_1181delinsAC (p.Thr394=) c.1168_1169delinsAC (p.Thr390=) | |
12 | g.120739390C>A | CA386601951 | ACADS | c.1181C>A (p.Thr394Asn) c.1169C>A (p.Thr390Asn) | |
12 | g.120739390C>G | CA386601952 | ACADS | c.1181C>G (p.Thr394Ser) c.1169C>G (p.Thr390Ser) | |
12 | g.120739390C>T | CA386601953 | ACADS | c.1181C>T (p.Thr394Ile) c.1169C>T (p.Thr390Ile) | |
12 | g.120739391del | CA658822775 | ACADS | c.1182del (p.Ser395AlafsTer7) c.1170del (p.Ser391AlafsTer7) | ClinVar dbSNP |
12 | g.120739391C>A | CA482146934 | ACADS | c.1182C>A (p.Thr394=) c.1170C>A (p.Thr390=) | |
12 | g.120739391C= | CA2067555847 | ACADS | c.1182C= (p.Thr394=) c.1170C= (p.Thr390=) | |
12 | g.120739391C>G | CA482146935 | ACADS | c.1182C>G (p.Thr394=) c.1170C>G (p.Thr390=) | dbSNP |
12 | g.120739391C>T | CA6831234 | ACADS | c.1182C>T (p.Thr394=) c.1170C>T (p.Thr390=) | dbSNP ExAC gnomAD v2 |
12 | g.120739392A= | CA2067555848 | ACADS | c.1183A= (p.Ser395=) c.1171A= (p.Ser391=) | |
12 | g.120739392A>C | CA386601955 | ACADS | c.1183A>C (p.Ser395Arg) c.1171A>C (p.Ser391Arg) | |
12 | g.120739392A>G | CA244495551 | ACADS | c.1183A>G (p.Ser395Gly) c.1171A>G (p.Ser391Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739392A>T | CA386601954 | ACADS | c.1183A>T (p.Ser395Cys) c.1171A>T (p.Ser391Cys) | |
12 | g.120739392_120739393insCGCAGCTGCAAGTCGTGGCCGCCATCC | CA2797705155 | ACADS | c.1183_1184insCGCAGCTGCAAGTCGTGGCCGCCATCC (p.Ser395delinsThrGlnLeuGlnValValAlaAlaIleArg) c.1171_1172insCGCAGCTGCAAGTCGTGGCCGCCATCC (p.Ser391delinsThrGlnLeuGlnValValAlaAlaIleArg) | |
12 | g.120739392_120739393insCGCAGCTGCAAGTCGTGGCCGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCT | CA2568536049 | ACADS | c.1183_1184insCGCAGCTGCAAGTCGTGGCCGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCT (p.Ser395ThrfsTer?) c.1171_1172insCGCAGCTGCAAGTCGTGGCCGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCT (p.Ser391ThrfsTer?) | |
12 | g.120739392_120739393insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC | CA2507751059 | ACADS | c.1183_1184insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC (p.Ser395ThrfsTer44) c.1171_1172insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC (p.Ser391ThrfsTer44) | |
12 | g.120739393G>A | CA386601956 | ACADS | c.1184G>A (p.Ser395Asn) c.1172G>A (p.Ser391Asn) | |
12 | g.120739393G>C | CA386601957 | ACADS | c.1184G>C (p.Ser395Thr) c.1172G>C (p.Ser391Thr) | |
12 | g.120739393G= | CA2067555849 | ACADS | c.1184G= (p.Ser395=) c.1172G= (p.Ser391=) | |
12 | g.120739393G>T | CA386601958 | ACADS | c.1184G>T (p.Ser395Ile) c.1172G>T (p.Ser391Ile) | |
12 | g.120739394C>A | CA386601959 | ACADS | c.1185C>A (p.Ser395Arg) c.1173C>A (p.Ser391Arg) | dbSNP |
12 | g.120739394C= | CA2067555850 | ACADS | c.1185C= (p.Ser395=) c.1173C= (p.Ser391=) | |
12 | g.120739394C>G | CA386601960 | ACADS | c.1185C>G (p.Ser395Arg) c.1173C>G (p.Ser391Arg) | |
12 | g.120739394C>T | CA6831235 | ACADS | c.1185C>T (p.Ser395=) c.1173C>T (p.Ser391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739394dup | CA684419297 | ACADS | c.1185dup (p.Glu396ArgfsTer?) c.1173dup (p.Glu392ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739395G>A | CA386601961 | ACADS | c.1186G>A (p.Glu396Lys) c.1174G>A (p.Glu392Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.120739395G>C | CA386601963 | ACADS | c.1186G>C (p.Glu396Gln) c.1174G>C (p.Glu392Gln) | |
12 | g.120739395G= | CA2067555851 | ACADS | c.1186G= (p.Glu396=) c.1174G= (p.Glu392=) | |
12 | g.120739395G>T | CA386601962 | ACADS | c.1186G>T (p.Glu396Ter) c.1174G>T (p.Glu392Ter) | gnomAD v4 |
12 | g.120739396A>C | CA386601964 | ACADS | c.1187A>C (p.Glu396Ala) c.1175A>C (p.Glu392Ala) | |
12 | g.120739396A>G | CA386601965 | ACADS | c.1187A>G (p.Glu396Gly) c.1175A>G (p.Glu392Gly) | |
12 | g.120739396A>T | CA386601966 | ACADS | c.1187A>T (p.Glu396Val) c.1175A>T (p.Glu392Val) | |
12 | g.120739397A= | CA2067555852 | ACADS | c.1188A= (p.Glu396=) c.1176A= (p.Glu392=) | |
12 | g.120739397A>C | CA386601967 | ACADS | c.1188A>C (p.Glu396Asp) c.1176A>C (p.Glu392Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739397A>G | CA482146936 | ACADS | c.1188A>G (p.Glu396=) c.1176A>G (p.Glu392=) | dbSNP |
12 | g.120739397A>T | CA386601968 | ACADS | c.1188A>T (p.Glu396Asp) c.1176A>T (p.Glu392Asp) | dbSNP |
12 | g.120739398A= | CA2067555853 | ACADS | c.1189A= (p.Ile397=) c.1177A= (p.Ile393=) | |
12 | g.120739398A>C | CA386601970 | ACADS | c.1189A>C (p.Ile397Leu) c.1177A>C (p.Ile393Leu) | |
12 | g.120739398A>G | CA386601971 | ACADS | c.1189A>G (p.Ile397Val) c.1177A>G (p.Ile393Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739398A>T | CA386601969 | ACADS | c.1189A>T (p.Ile397Phe) c.1177A>T (p.Ile393Phe) | gnomAD v4 |
12 | g.120739399T>A | CA386601973 | ACADS | c.1190T>A (p.Ile397Asn) c.1178T>A (p.Ile393Asn) | |
12 | g.120739399T>C | CA386601972 | ACADS | c.1190T>C (p.Ile397Thr) c.1178T>C (p.Ile393Thr) | gnomAD v4 |
12 | g.120739399T>G | CA386601974 | ACADS | c.1190T>G (p.Ile397Ser) c.1178T>G (p.Ile393Ser) | |
12 | g.120739400C>A | CA482146937 | ACADS | c.1191C>A (p.Ile397=) c.1179C>A (p.Ile393=) | |
12 | g.120739400C= | CA2067555854 | ACADS | c.1191C= (p.Ile397=) c.1179C= (p.Ile393=) | |
12 | g.120739400C>G | CA386601975 | ACADS | c.1191C>G (p.Ile397Met) c.1179C>G (p.Ile393Met) | dbSNP |
12 | g.120739400C>T | CA482146938 | ACADS | c.1191C>T (p.Ile397=) c.1179C>T (p.Ile393=) | dbSNP |
12 | g.120739401C>A | CA386601977 | ACADS | c.1192C>A (p.Gln398Lys) c.1180C>A (p.Gln394Lys) | |
12 | g.120739401C= | CA2067555855 | ACADS | c.1192C= (p.Gln398=) c.1180C= (p.Gln394=) | |
12 | g.120739401C>G | CA386601976 | ACADS | c.1192C>G (p.Gln398Glu) c.1180C>G (p.Gln394Glu) | |
12 | g.120739401C>T | CA6831236 | ACADS | c.1192C>T (p.Gln398Ter) c.1180C>T (p.Gln394Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739402A= | CA2067555856 | ACADS | c.1193A= (p.Gln398=) c.1181A= (p.Gln394=) | |
12 | g.120739402A>C | CA386601978 | ACADS | c.1193A>C (p.Gln398Pro) c.1181A>C (p.Gln394Pro) | |
12 | g.120739402A>G | CA386601980 | ACADS | c.1193A>G (p.Gln398Arg) c.1181A>G (p.Gln394Arg) | |
12 | g.120739402A>T | CA386601979 | ACADS | c.1193A>T (p.Gln398Leu) c.1181A>T (p.Gln394Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739403G>A | CA482146939 | ACADS | c.1194G>A (p.Gln398=) c.1182G>A (p.Gln394=) | |
12 | g.120739403G>C | CA386601981 | ACADS | c.1194G>C (p.Gln398His) c.1182G>C (p.Gln394His) | |
12 | g.120739403G>T | CA386601982 | ACADS | c.1194G>T (p.Gln398His) c.1182G>T (p.Gln394His) | |
12 | g.120739404C>A | CA6831238 | ACADS | c.1195C>A (p.Arg399=) c.1183C>A (p.Arg395=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739404C= | CA2067555857 | ACADS | c.1195C= (p.Arg399=) c.1183C= (p.Arg395=) | |
12 | g.120739404C>G | CA386601983 | ACADS | c.1195C>G (p.Arg399Gly) c.1183C>G (p.Arg395Gly) | |
12 | g.120739404C>T | CA6831237 | ACADS | c.1195C>T (p.Arg399Trp) c.1183C>T (p.Arg395Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739405G>A | CA244495583 | ACADS | c.1196G>A (p.Arg399Gln) c.1184G>A (p.Arg395Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739405G>C | CA386601984 | ACADS | c.1196G>C (p.Arg399Pro) c.1184G>C (p.Arg395Pro) | |
12 | g.120739405G= | CA2067555858 | ACADS | c.1196G= (p.Arg399=) c.1184G= (p.Arg395=) | |
12 | g.120739405G>T | CA386601985 | ACADS | c.1196G>T (p.Arg399Leu) c.1184G>T (p.Arg395Leu) | |
12 | g.120739406G>A | CA482146940 | ACADS | c.1197G>A (p.Arg399=) c.1185G>A (p.Arg395=) | |
12 | g.120739406G>C | CA482146941 | ACADS | c.1197G>C (p.Arg399=) c.1185G>C (p.Arg395=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739406G= | CA2067555859 | ACADS | c.1197G= (p.Arg399=) c.1185G= (p.Arg395=) | |
12 | g.120739406G>T | CA482146942 | ACADS | c.1197G>T (p.Arg399=) c.1185G>T (p.Arg395=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739407C>A | CA244495594 | ACADS | c.1198C>A (p.Leu400Met) c.1186C>A (p.Leu396Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739407C= | CA2067555860 | ACADS | c.1198C= (p.Leu400=) c.1186C= (p.Leu396=) | |
12 | g.120739407C>G | CA6831239 | ACADS | c.1198C>G (p.Leu400Val) c.1186C>G (p.Leu396Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739407C>T | CA6831240 | ACADS | c.1198C>T (p.Leu400=) c.1186C>T (p.Leu396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739408T>A | CA386601988 | ACADS | c.1199T>A (p.Leu400Gln) c.1187T>A (p.Leu396Gln) | |
12 | g.120739408T>C | CA386601986 | ACADS | c.1199T>C (p.Leu400Pro) c.1187T>C (p.Leu396Pro) | |
12 | g.120739408T>G | CA386601987 | ACADS | c.1199T>G (p.Leu400Arg) c.1187T>G (p.Leu396Arg) | |
12 | g.120739409G>A | CA482146943 | ACADS | c.1200G>A (p.Leu400=) c.1188G>A (p.Leu396=) | gnomAD v4 COSMIC |
12 | g.120739409G>C | CA482146945 | ACADS | c.1200G>C (p.Leu400=) c.1188G>C (p.Leu396=) | dbSNP |
12 | g.120739409G>T | CA482146944 | ACADS | c.1200G>T (p.Leu400=) c.1188G>T (p.Leu396=) | |
12 | g.120739410G>A | CA244495632 | ACADS | c.1201G>A (p.Val401Met) c.1189G>A (p.Val397Met) | dbSNP gnomAD v4 |
12 | g.120739410G>C | CA386601989 | ACADS | c.1201G>C (p.Val401Leu) c.1189G>C (p.Val397Leu) | dbSNP |
12 | g.120739410G= | CA2067555861 | ACADS | c.1201G= (p.Val401=) c.1189G= (p.Val397=) | |
12 | g.120739410G>T | CA386601990 | ACADS | c.1201G>T (p.Val401Leu) c.1189G>T (p.Val397Leu) | |
12 | g.120739411T>A | CA386601991 | ACADS | c.1202T>A (p.Val401Glu) c.1190T>A (p.Val397Glu) | |
12 | g.120739411T>C | CA386601992 | ACADS | c.1202T>C (p.Val401Ala) c.1190T>C (p.Val397Ala) | |
12 | g.120739411T>G | CA6831241 | ACADS | c.1202T>G (p.Val401Gly) c.1190T>G (p.Val397Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739411T= | CA2067555862 | ACADS | c.1202T= (p.Val401=) c.1190T= (p.Val397=) | |
12 | g.120739412G>A | CA6831242 | ACADS | c.1203G>A (p.Val401=) c.1191G>A (p.Val397=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739412G>C | CA482146946 | ACADS | c.1203G>C (p.Val401=) c.1191G>C (p.Val397=) | dbSNP |
12 | g.120739412G= | CA2067555863 | ACADS | c.1203G= (p.Val401=) c.1191G= (p.Val397=) | |
12 | g.120739412G>T | CA482146947 | ACADS | c.1203G>T (p.Val401=) c.1191G>T (p.Val397=) | gnomAD v4 |
12 | g.120739413A>C | CA386601993 | ACADS | c.1204A>C (p.Ile402Leu) c.1192A>C (p.Ile398Leu) | |
12 | g.120739413A>G | CA386601994 | ACADS | c.1204A>G (p.Ile402Val) c.1192A>G (p.Ile398Val) | gnomAD v4 |
12 | g.120739413A>T | CA386601995 | ACADS | c.1204A>T (p.Ile402Phe) c.1192A>T (p.Ile398Phe) | |
12 | g.120739414T>A | CA386601997 | ACADS | c.1205T>A (p.Ile402Asn) c.1193T>A (p.Ile398Asn) | |
12 | g.120739414T>C | CA386601998 | ACADS | c.1205T>C (p.Ile402Thr) c.1193T>C (p.Ile398Thr) | |
12 | g.120739414T>G | CA386601996 | ACADS | c.1205T>G (p.Ile402Ser) c.1193T>G (p.Ile398Ser) | |
12 | g.120739415C>A | CA482146948 | ACADS | c.1206C>A (p.Ile402=) c.1194C>A (p.Ile398=) | |
12 | g.120739415C= | CA2067555864 | ACADS | c.1206C= (p.Ile402=) c.1194C= (p.Ile398=) | |
12 | g.120739415C>G | CA386601999 | ACADS | c.1206C>G (p.Ile402Met) c.1194C>G (p.Ile398Met) | dbSNP gnomAD v4 |
12 | g.120739415C>T | CA6831243 | ACADS | c.1206C>T (p.Ile402=) c.1194C>T (p.Ile398=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739416G>A | CA6831244 | ACADS | c.1207G>A (p.Ala403Thr) c.1195G>A (p.Ala399Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739416G>C | CA386602000 | ACADS | c.1207G>C (p.Ala403Pro) c.1195G>C (p.Ala399Pro) | |
12 | g.120739416G= | CA2067555865 | ACADS | c.1207G= (p.Ala403=) c.1195G= (p.Ala399=) | |
12 | g.120739416G>T | CA386602001 | ACADS | c.1207G>T (p.Ala403Ser) c.1195G>T (p.Ala399Ser) | gnomAD v4 |
12 | g.120739417C>A | CA386602002 | ACADS | c.1208C>A (p.Ala403Asp) c.1196C>A (p.Ala399Asp) | |
12 | g.120739417C>G | CA386602003 | ACADS | c.1208C>G (p.Ala403Gly) c.1196C>G (p.Ala399Gly) | |
12 | g.120739417C>T | CA386602004 | ACADS | c.1208C>T (p.Ala403Val) c.1196C>T (p.Ala399Val) | |
12 | g.120739417_120739418insGCGCGCTTTGTAGAACGGCGCGA | CA2621370543 | ACADS | c.1208_1209insGCGCGCTTTGTAGAACGGCGCGA (p.Gly404ArgfsTer4) c.1196_1197insGCGCGCTTTGTAGAACGGCGCGA (p.Gly400ArgfsTer4) | gnomAD v4 |
12 | g.120739418C>A | CA482146950 | ACADS | c.1209C>A (p.Ala403=) c.1197C>A (p.Ala399=) | gnomAD v4 |
12 | g.120739418C= | CA2067555866 | ACADS | c.1209C= (p.Ala403=) c.1197C= (p.Ala399=) | |
12 | g.120739418C>G | CA482146949 | ACADS | c.1209C>G (p.Ala403=) c.1197C>G (p.Ala399=) | |
12 | g.120739418C>T | CA6831245 | ACADS | c.1209C>T (p.Ala403=) c.1197C>T (p.Ala399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739418_120739419insCGCGCCTTGTAAGC | CA2621370544 | ACADS | c.1209_1210insCGCGCCTTGTAAGC (p.Gly404ArgfsTer4) c.1197_1198insCGCGCCTTGTAAGC (p.Gly400ArgfsTer4) | gnomAD v4 |
12 | g.120739418_120739419insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC | CA2621370538 | ACADS | c.1209_1210insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC c.1197_1198insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC | gnomAD v4 |
12 | g.120739419G>A | CA6831247 | ACADS | c.1210G>A (p.Gly404Arg) c.1198G>A (p.Gly400Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739419G>C | CA386602005 | ACADS | c.1210G>C (p.Gly404Arg) c.1198G>C (p.Gly400Arg) | dbSNP |
12 | g.120739419G= | CA2067555867 | ACADS | c.1210G= (p.Gly404=) c.1198G= (p.Gly400=) | |
12 | g.120739419G>T | CA6831246 | ACADS | c.1210G>T (p.Gly404Trp) c.1198G>T (p.Gly400Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739420G>A | CA386602008 | ACADS | c.1211G>A (p.Gly404Glu) c.1199G>A (p.Gly400Glu) | COSMIC |
12 | g.120739420G>C | CA386602006 | ACADS | c.1211G>C (p.Gly404Ala) c.1199G>C (p.Gly400Ala) | |
12 | g.120739420G>T | CA386602007 | ACADS | c.1211G>T (p.Gly404Val) c.1199G>T (p.Gly400Val) | gnomAD v4 |
12 | g.120739421G>A | CA482146951 | ACADS | c.1212G>A (p.Gly404=) c.1200G>A (p.Gly400=) | dbSNP gnomAD v4 |
12 | g.120739421G>C | CA482146952 | ACADS | c.1212G>C (p.Gly404=) c.1200G>C (p.Gly400=) | |
12 | g.120739421G= | CA2067555869 | ACADS | c.1212G= (p.Gly404=) c.1200G= (p.Gly400=) | |
12 | g.120739421G>T | CA482146953 | ACADS | c.1212G>T (p.Gly404=) c.1200G>T (p.Gly400=) | |
12 | g.120739421_120739422del | CA912973558 | ACADS | c.1212_1213del (p.His405SerfsTer?) c.1200_1201del (p.His401SerfsTer?) | |
12 | g.120739421_120739422delinsGC | CA2067555868 | ACADS | c.1212_1213delinsGC (p.Gly404=) c.1200_1201delinsGC (p.Gly400=) | |
12 | g.120739422_120739423insGCCGGTGGTGGCCGC | CA2621370555 | ACADS | c.1213_1214insGCCGGTGGTGGCCGC (p.Gly404_His405insArgArgTrpTrpPro) c.1201_1202insGCCGGTGGTGGCCGC (p.Gly400_His401insArgArgTrpTrpPro) | gnomAD v4 |
12 | g.120739422del | CA658822776 | ACADS | c.1213del (p.His405IlefsTer?) c.1201del (p.His401IlefsTer?) | ClinVar dbSNP |
12 | g.120739422C>A | CA386602009 | ACADS | c.1213C>A (p.His405Asn) c.1201C>A (p.His401Asn) | |
12 | g.120739422C= | CA2067555870 | ACADS | c.1213C= (p.His405=) c.1201C= (p.His401=) | |
12 | g.120739422C>G | CA386602010 | ACADS | c.1213C>G (p.His405Asp) c.1201C>G (p.His401Asp) | |
12 | g.120739422C>T | CA6831248 | ACADS | c.1213C>T (p.His405Tyr) c.1201C>T (p.His401Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739422_120739423insGCCGGTGGTGGCCGCCCACGCGGGCGACCCGCCGGTC | CA2621370559 | ACADS | c.1213_1214insGCCGGTGGTGGCCGCCCACGCGGGCGACCCGCCGGTC (p.His405ArgfsTer?) c.1201_1202insGCCGGTGGTGGCCGCCCACGCGGGCGACCCGCCGGTC (p.His401ArgfsTer?) | gnomAD v4 |
12 | g.120739422dup | CA2839291224 | ACADS | c.1213dup (p.His405ProfsTer?) c.1201dup (p.His401ProfsTer?) | |
12 | g.120739423A>C | CA386602011 | ACADS | c.1214A>C (p.His405Pro) c.1202A>C (p.His401Pro) | |
12 | g.120739423A>G | CA386602012 | ACADS | c.1214A>G (p.His405Arg) c.1202A>G (p.His401Arg) | gnomAD v4 |
12 | g.120739423A>T | CA386602013 | ACADS | c.1214A>T (p.His405Leu) c.1202A>T (p.His401Leu) | |
12 | g.120739424T>A | CA386602014 | ACADS | c.1215T>A (p.His405Gln) c.1203T>A (p.His401Gln) | |
12 | g.120739424T>C | CA482146954 | ACADS | c.1215T>C (p.His405=) c.1203T>C (p.His401=) | |
12 | g.120739424T>G | CA386602015 | ACADS | c.1215T>G (p.His405Gln) c.1203T>G (p.His401Gln) | |
12 | g.120739425C>A | CA386602016 | ACADS | c.1216C>A (p.Leu406Met) c.1204C>A (p.Leu402Met) | |
12 | g.120739425C>G | CA386602017 | ACADS | c.1216C>G (p.Leu406Val) c.1204C>G (p.Leu402Val) | |
12 | g.120739425C>T | CA482146955 | ACADS | c.1216C>T (p.Leu406=) c.1204C>T (p.Leu402=) | |
12 | g.120739426T>A | CA386602018 | ACADS | c.1217T>A (p.Leu406Gln) c.1205T>A (p.Leu402Gln) | |
12 | g.120739426T>C | CA386602019 | ACADS | c.1217T>C (p.Leu406Pro) c.1205T>C (p.Leu402Pro) | |
12 | g.120739426T>G | CA386602020 | ACADS | c.1217T>G (p.Leu406Arg) c.1205T>G (p.Leu402Arg) | |
12 | g.120739427G>A | CA482146956 | ACADS | c.1218G>A (p.Leu406=) c.1206G>A (p.Leu402=) | |
12 | g.120739427G>C | CA482146957 | ACADS | c.1218G>C (p.Leu406=) c.1206G>C (p.Leu402=) | |
12 | g.120739427G>T | CA482146958 | ACADS | c.1218G>T (p.Leu406=) c.1206G>T (p.Leu402=) | |
12 | g.120739428C>A | CA386602022 | ACADS | c.1219C>A (p.Leu407Ile) c.1207C>A (p.Leu403Ile) | |
12 | g.120739428C>G | CA386602023 | ACADS | c.1219C>G (p.Leu407Val) c.1207C>G (p.Leu403Val) | |
12 | g.120739428C>T | CA386602021 | ACADS | c.1219C>T (p.Leu407Phe) c.1207C>T (p.Leu403Phe) | |
12 | g.120739429T>A | CA386602026 | ACADS | c.1220T>A (p.Leu407His) c.1208T>A (p.Leu403His) | |
12 | g.120739429T>C | CA386602024 | ACADS | c.1220T>C (p.Leu407Pro) c.1208T>C (p.Leu403Pro) | |
12 | g.120739429T>G | CA386602025 | ACADS | c.1220T>G (p.Leu407Arg) c.1208T>G (p.Leu403Arg) | |
12 | g.120739430C>A | CA482146959 | ACADS | c.1221C>A (p.Leu407=) c.1209C>A (p.Leu403=) | gnomAD v4 |
12 | g.120739430C>G | CA482146960 | ACADS | c.1221C>G (p.Leu407=) c.1209C>G (p.Leu403=) | |
12 | g.120739430C>T | CA482146961 | ACADS | c.1221C>T (p.Leu407=) c.1209C>T (p.Leu403=) | gnomAD v4 |
12 | g.120739431A>C | CA482146962 | ACADS | c.1222A>C (p.Arg408=) c.1210A>C (p.Arg404=) | |
12 | g.120739431A>G | CA386602027 | ACADS | c.1222A>G (p.Arg408Gly) c.1210A>G (p.Arg404Gly) | gnomAD v4 |
12 | g.120739431A>T | CA386602028 | ACADS | c.1222A>T (p.Arg408Trp) c.1210A>T (p.Arg404Trp) | |
12 | g.120739432G>A | CA386602029 | ACADS | c.1223G>A (p.Arg408Lys) c.1211G>A (p.Arg404Lys) | |
12 | g.120739432G>C | CA386602030 | ACADS | c.1223G>C (p.Arg408Thr) c.1211G>C (p.Arg404Thr) | |
12 | g.120739432G>T | CA386602031 | ACADS | c.1223G>T (p.Arg408Met) c.1211G>T (p.Arg404Met) | |
12 | g.120739433G>A | CA482146963 | ACADS | c.1224G>A (p.Arg408=) c.1212G>A (p.Arg404=) | gnomAD v4 |
12 | g.120739433G>C | CA386602032 | ACADS | c.1224G>C (p.Arg408Ser) c.1212G>C (p.Arg404Ser) | |
12 | g.120739433G>T | CA386602033 | ACADS | c.1224G>T (p.Arg408Ser) c.1212G>T (p.Arg404Ser) | |
12 | g.120739434A>C | CA386602034 | ACADS | c.1225A>C (p.Ser409Arg) c.1213A>C (p.Ser405Arg) | |
12 | g.120739434A>G | CA386602035 | ACADS | c.1225A>G (p.Ser409Gly) c.1213A>G (p.Ser405Gly) | |
12 | g.120739434A>T | CA386602036 | ACADS | c.1225A>T (p.Ser409Cys) c.1213A>T (p.Ser405Cys) | |
12 | g.120739435G>A | CA6831249 | ACADS | c.1226G>A (p.Ser409Asn) c.1214G>A (p.Ser405Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739435G>C | CA386602037 | ACADS | c.1226G>C (p.Ser409Thr) c.1214G>C (p.Ser405Thr) | ClinVar |
12 | g.120739435G= | CA2067555871 | ACADS | c.1226G= (p.Ser409=) c.1214G= (p.Ser405=) | |
12 | g.120739435G>T | CA386602038 | ACADS | c.1226G>T (p.Ser409Ile) c.1214G>T (p.Ser405Ile) | gnomAD v4 |
12 | g.120739436C>A | CA386602039 | ACADS | c.1227C>A (p.Ser409Arg) c.1215C>A (p.Ser405Arg) | gnomAD v4 |
12 | g.120739436C>G | CA386602040 | ACADS | c.1227C>G (p.Ser409Arg) c.1215C>G (p.Ser405Arg) | |
12 | g.120739436C>T | CA482146964 | ACADS | c.1227C>T (p.Ser409=) c.1215C>T (p.Ser405=) | |
12 | g.120739437T>A | CA386602041 | ACADS | c.1228T>A (p.Tyr410Asn) c.1216T>A (p.Tyr406Asn) | |
12 | g.120739437T>C | CA386602042 | ACADS | c.1228T>C (p.Tyr410His) c.1216T>C (p.Tyr406His) | |
12 | g.120739437T>G | CA386602043 | ACADS | c.1228T>G (p.Tyr410Asp) c.1216T>G (p.Tyr406Asp) | |
12 | g.120739438A= | CA2067555872 | ACADS | c.1229A= (p.Tyr410=) c.1217A= (p.Tyr406=) | |
12 | g.120739438A>C | CA386602044 | ACADS | c.1229A>C (p.Tyr410Ser) c.1217A>C (p.Tyr406Ser) | |
12 | g.120739438A>G | CA386602045 | ACADS | c.1229A>G (p.Tyr410Cys) c.1217A>G (p.Tyr406Cys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739438A>T | CA386602046 | ACADS | c.1229A>T (p.Tyr410Phe) c.1217A>T (p.Tyr406Phe) | |
12 | g.120739439C>A | CA386602047 | ACADS | c.1230C>A (p.Tyr410Ter) c.1218C>A (p.Tyr406Ter) | |
12 | g.120739439C>G | CA386602048 | ACADS | c.1230C>G (p.Tyr410Ter) c.1218C>G (p.Tyr406Ter) | |
12 | g.120739439C>T | CA482146965 | ACADS | c.1230C>T (p.Tyr410=) c.1218C>T (p.Tyr406=) | |
12 | g.120739440C>A | CA482146966 | ACADS | c.1231C>A (p.Arg411=) c.1219C>A (p.Arg407=) | gnomAD v4 |
12 | g.120739440C= | CA2067555873 | ACADS | c.1231C= (p.Arg411=) c.1219C= (p.Arg407=) | |
12 | g.120739440C>G | CA386602049 | ACADS | c.1231C>G (p.Arg411Gly) c.1219C>G (p.Arg407Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739440C>T | CA244495699 | ACADS | c.1231C>T (p.Arg411Trp) c.1219C>T (p.Arg407Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739441G>A | CA6831250 | ACADS | c.1232G>A (p.Arg411Gln) c.1220G>A (p.Arg407Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739441G>C | CA386602051 | ACADS | c.1232G>C (p.Arg411Pro) c.1220G>C (p.Arg407Pro) | |
12 | g.120739441G= | CA2067555874 | ACADS | c.1232G= (p.Arg411=) c.1220G= (p.Arg407=) | |
12 | g.120739441G>T | CA386602050 | ACADS | c.1232G>T (p.Arg411Leu) c.1220G>T (p.Arg407Leu) | |
12 | g.120739442G>A | CA482146967 | ACADS | c.1233G>A (p.Arg411=) c.1221G>A (p.Arg407=) | |
12 | g.120739442G>C | CA482146968 | ACADS | c.1233G>C (p.Arg411=) c.1221G>C (p.Arg407=) | |
12 | g.120739442G>T | CA482146969 | ACADS | c.1233G>T (p.Arg411=) c.1221G>T (p.Arg407=) | gnomAD v4 |
12 | g.120739443A>C | CA386602052 | ACADS | c.1234A>C (p.Ser412Arg) c.1222A>C (p.Ser408Arg) | |
12 | g.120739443A>G | CA386602053 | ACADS | c.1234A>G (p.Ser412Gly) c.1222A>G (p.Ser408Gly) | |
12 | g.120739443A>T | CA386602054 | ACADS | c.1234A>T (p.Ser412Cys) c.1222A>T (p.Ser408Cys) | |
12 | g.120739444G>A | CA386602055 | ACADS | c.1235G>A (p.Ser412Asn) c.1223G>A (p.Ser408Asn) | gnomAD v4 |
12 | g.120739444G>C | CA386602056 | ACADS | c.1235G>C (p.Ser412Thr) c.1223G>C (p.Ser408Thr) | |
12 | g.120739444G>T | CA386602057 | ACADS | c.1235G>T (p.Ser412Ile) c.1223G>T (p.Ser408Ile) | gnomAD v4 |
12 | g.120739445C>A | CA386602058 | ACADS | c.1236C>A (p.Ser412Arg) c.1224C>A (p.Ser408Arg) | |
12 | g.120739445C>G | CA386602059 | ACADS | c.1236C>G (p.Ser412Arg) c.1224C>G (p.Ser408Arg) | gnomAD v4 |
12 | g.120739445C>T | CA482146970 | ACADS | c.1236C>T (p.Ser412=) c.1224C>T (p.Ser408=) | |
12 | g.120739446T>A | CA386602060 | ACADS | c.1237T>A (p.Ter413Arg) c.1225T>A (p.Ter409Arg) | |
12 | g.120739446T>C | CA386602061 | ACADS | c.1237T>C (p.Ter413Arg) c.1225T>C (p.Ter409Arg) | gnomAD v4 |
12 | g.120739446T>G | CA386602062 | ACADS | c.1237T>G (p.Ter413Gly) c.1225T>G (p.Ter409Gly) | |
12 | g.120739447G>A | CA482146971 | ACADS | c.1238G>A (p.Ter413=) c.1226G>A (p.Ter409=) | gnomAD v4 |
12 | g.120739447G>C | CA386602063 | ACADS | c.1238G>C (p.Ter413Ser) c.1226G>C (p.Ter409Ser) | |
12 | g.120739447G>T | CA386602064 | ACADS | c.1238G>T (p.Ter413Leu) c.1226G>T (p.Ter409Leu) | gnomAD v4 |
12 | g.120739448A>C | CA386602067 | ACADS | c.1239A>C (p.Ter413Cys) c.1227A>C (p.Ter409Cys) | |
12 | g.120739448A>G | CA386602066 | ACADS | c.1239A>G (p.Ter413Trp) c.1227A>G (p.Ter409Trp) | |
12 | g.120739448A>T | CA386602065 | ACADS | c.1239A>T (p.Ter413Cys) c.1227A>T (p.Ter409Cys) | |
12 | g.120739449G>A | CA2621370606 | ACADS | c.*1G>A (n.*1G>A) | gnomAD v4 |
12 | g.120739450C>A | CA2067555876 | ACADS | c.*2C>A (n.*2C>A) | dbSNP gnomAD v4 |
12 | g.120739450C= | CA2067555875 | ACADS | c.*2C= (n.*2C=) | |
12 | g.120739450C>T | CA684419419 | ACADS | c.*2C>T (n.*2C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739452del | CA2842119481 | ACADS | c.*4del (n.*4del) | |
12 | g.120739451C>A | CA2839291220 | ACADS | c.*3C>A (n.*3C>A) | |
12 | g.120739451C= | CA2067555877 | ACADS | c.*3C= (n.*3C=) | |
12 | g.120739451C>T | CA608059996 | ACADS | c.*3C>T (n.*3C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739452C>A | CA2621370616 | ACADS | c.*4C>A (n.*4C>A) | gnomAD v4 |
12 | g.120739452C= | CA2067555878 | ACADS | c.*4C= (n.*4C=) | |
12 | g.120739452C>G | CA608059997 | ACADS | c.*4C>G (n.*4C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739452C>T | CA6831251 | ACADS | c.*4C>T (n.*4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739453G>A | CA200649 | ACADS | c.*5G>A (n.*5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739453G= | CA2067555879 | ACADS | c.*5G= (n.*5G=) | |
12 | g.120739453G>T | CA6831252 | ACADS | c.*5G>T (n.*5G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739454del | CA2839291218 | ACADS | c.*6del (n.*6del) | |
12 | g.120739454C= | CA2067555880 | ACADS | c.*6C= (n.*6C=) | |
12 | g.120739454C>T | CA6831253 | ACADS | c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739455G>A | CA6831254 | ACADS | c.*7G>A (n.*7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739455G>C | CA952535195 | ACADS | c.*7G>C (n.*7G>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739455G= | CA2067555881 | ACADS | c.*7G= (n.*7G=) | |
12 | g.120739455G>T | CA6831255 | ACADS | c.*7G>T (n.*7G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739456G>A | CA608060002 | ACADS | c.*8G>A (n.*8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739456G= | CA2067555882 | ACADS | c.*8G= (n.*8G=) | |
12 | g.120739456G>T | CA2575321554 | ACADS | c.*8G>T (n.*8G>T) | gnomAD v4 |
12 | g.120739457C>A | CA2621370637 | ACADS | c.*9C>A (n.*9C>A) | gnomAD v4 |
12 | g.120739457C= | CA2067555883 | ACADS | c.*9C= (n.*9C=) | |
12 | g.120739457C>G | CA2067555884 | ACADS | c.*9C>G (n.*9C>G) | dbSNP |
12 | g.120739457C>T | CA6831256 | ACADS | c.*9C>T (n.*9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739458G>A | CA6831257 | ACADS | c.*10G>A (n.*10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739458G= | CA2067555885 | ACADS | c.*10G= (n.*10G=) | |
12 | g.120739458G>T | CA2621370640 | ACADS | c.*10G>T (n.*10G>T) | gnomAD v4 |
12 | g.120739459G>A | CA608060003 | ACADS | c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739459G>C | CA2727080523 | ACADS | c.*11G>C (n.*11G>C) | dbSNP |
12 | g.120739459G= | CA2067555886 | ACADS | c.*11G= (n.*11G=) | |
12 | g.120739459G>T | CA2621370648 | ACADS | c.*11G>T (n.*11G>T) | gnomAD v4 |
12 | g.120739460A>C | CA2842119482 | ACADS | c.*12A>C (n.*12A>C) | |
12 | g.120739460A>T | CA2842119483 | ACADS | c.*12A>T (n.*12A>T) | |
12 | g.120739461C>A | CA2621370650 | ACADS | c.*13C>A (n.*13C>A) | gnomAD v4 |
12 | g.120739461C= | CA2067555887 | ACADS | c.*13C= (n.*13C=) | |
12 | g.120739461C>T | CA2621370652 | ACADS | c.*13C>T (n.*13C>T) | gnomAD v4 |
12 | g.120739462T>C | CA482146972 | ACADS | c.*14T>C (n.*14T>C) | gnomAD v4 |
12 | g.120739462dup | CA608060004 | ACADS | c.*14dup (n.*14dup) | dbSNP gnomAD v2 |
12 | g.120739463G>A | CA608060005 | ACADS | c.*15G>A (n.*15G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739463G= | CA2067555888 | ACADS | c.*15G= (n.*15G=) | |
12 | g.120739463G>T | CA2621370660 | ACADS | c.*15G>T (n.*15G>T) | gnomAD v4 |
12 | g.120739464C>A | CA2621370663 | ACADS | c.*16C>A (n.*16C>A) | gnomAD v4 |
12 | g.120739464C= | CA2067555889 | ACADS | c.*16C= (n.*16C=) | |
12 | g.120739464C>T | CA6831258 | ACADS | c.*16C>T (n.*16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739467del | CA2621370662 | ACADS | c.*19del (n.*19del) | gnomAD v4 |
12 | g.120739465C>A | CA2575321555 | ACADS | c.*17C>A (n.*17C>A) | |
12 | g.120739465C= | CA2067555890 | ACADS | c.*17C= (n.*17C=) | |
12 | g.120739465C>T | CA2067555891 | ACADS | c.*17C>T (n.*17C>T) | dbSNP |
12 | g.120739466C= | CA2067555892 | ACADS | c.*18C= (n.*18C=) | |
12 | g.120739466C>G | CA684419457 | ACADS | c.*18C>G (n.*18C>G) | dbSNP gnomAD v4 |
12 | g.120739466C>T | CA2621370665 | ACADS | c.*18C>T (n.*18C>T) | gnomAD v4 |
12 | g.120739467C>A | CA2517867039 | ACADS | c.*19C>A (n.*19C>A) | gnomAD v4 |
12 | g.120739467C>T | CA2621370669 | ACADS | c.*19C>T (n.*19C>T) | gnomAD v4 |
12 | g.120739467_120739468del | CA2842119484 | ACADS | c.*19_*20del (n.*19_*20del) | |
12 | g.120739467_120739468delinsAC | CA2067555894 | ACADS | c.*19_*20delinsAC (n.*19_*20delinsAC) | dbSNP |
12 | g.120739467_120739468delinsCA | CA2067555893 | ACADS | c.*19_*20delinsCA (n.*19_*20delinsCA) | |
12 | g.120739468A>G | CA2621370672 | ACADS | c.*20A>G (n.*20A>G) | gnomAD v4 |
12 | g.120739468A>T | CA2797705163 | ACADS | c.*20A>T (n.*20A>T) | |
12 | g.120739469G>A | CA2580602356 | ACADS | c.*21G>A (n.*21G>A) | gnomAD v4 |
12 | g.120739469G>C | CA6831259 | ACADS | c.*21G>C (n.*21G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739469G= | CA1630855793 | ACADS | c.*21G= (n.*21G=) | |
12 | g.120739469G>T | CA6831260 | ACADS | c.*21G>T (n.*21G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739469_120739470insC | CA655233548 | ACADS | c.*21_*22insC (n.*21_*22insC) | |
12 | g.120739470G>A | CA608060006 | ACADS | c.*22G>A (n.*22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739470G= | CA2067555895 | ACADS | c.*22G= (n.*22G=) | |
12 | g.120739470G>T | CA2621370685 | ACADS | c.*22G>T (n.*22G>T) | gnomAD v4 |
12 | g.120739471A>T | CA2621370687 | ACADS | c.*23A>T (n.*23A>T) | gnomAD v4 |
12 | g.120739472C>A | CA2621370689 | ACADS | c.*24C>A (n.*24C>A) | gnomAD v4 |
12 | g.120739472C>T | CA2621370691 | ACADS | c.*24C>T (n.*24C>T) | gnomAD v4 |
12 | g.120739473T>C | CA2575321556 | ACADS | c.*25T>C (n.*25T>C) | gnomAD v4 |
12 | g.120739474G= | CA2067555896 | ACADS | c.*26G= (n.*26G=) | |
12 | g.120739474G>T | CA6831261 | ACADS | c.*26G>T (n.*26G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739480_120739489del | CA2621370697 | ACADS | c.*32_*41del (n.*32_*41del) | gnomAD v4 |
12 | g.120739475C>A | CA2067555897 | ACADS | c.*27C>A (n.*27C>A) | dbSNP gnomAD v4 |
12 | g.120739475C= | CA2067555898 | ACADS | c.*27C= (n.*27C=) | |
12 | g.120739475C>G | CA244495763 | ACADS | c.*27C>G (n.*27C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739475C>T | CA6831262 | ACADS | c.*27C>T (n.*27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739476G>A | CA6831263 | ACADS | c.*28G>A (n.*28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739476G= | CA2067555899 | ACADS | c.*28G= (n.*28G=) | |
12 | g.120739476G>T | CA2621370704 | ACADS | c.*28G>T (n.*28G>T) | gnomAD v4 |
12 | g.120739478dup | CA2621370703 | ACADS | c.*30dup (n.*30dup) | gnomAD v4 |
12 | g.120739477G>A | CA608060007 | ACADS | c.*29G>A (n.*29G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739477G= | CA2067555900 | ACADS | c.*29G= (n.*29G=) | |
12 | g.120739477G>T | CA2842119485 | ACADS | c.*29G>T (n.*29G>T) | |
12 | g.120739478G>A | CA608060008 | ACADS | c.*30G>A (n.*30G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739478G= | CA2067555901 | ACADS | c.*30G= (n.*30G=) | |
12 | g.120739478G>T | CA2621370707 | ACADS | c.*30G>T (n.*30G>T) | gnomAD v4 |
12 | g.120739479A>G | CA2621370709 | ACADS | c.*31A>G (n.*31A>G) | gnomAD v4 |
12 | g.120739480A= | CA2067555902 | ACADS | c.*32A= (n.*32A=) | |
12 | g.120739480A>G | CA2621370711 | ACADS | c.*32A>G (n.*32A>G) | gnomAD v4 |
12 | g.120739480A>T | CA684419482 | ACADS | c.*32A>T (n.*32A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739480_120739486delinsAGGCGCG | CA2067555903 | ACADS | c.*32_*38delinsAGGCGCG (n.*32_*38delinsAGGCGCG) | |
12 | g.120739481G>A | CA2842119486 | ACADS | c.*33G>A (n.*33G>A) | |
12 | g.120739481G>T | CA2621370713 | ACADS | c.*33G>T (n.*33G>T) | gnomAD v4 |
12 | g.120739483_120739488del | CA2067555904 | ACADS | c.*35_*40del (n.*35_*40del) | dbSNP |
12 | g.120739482G>A | CA2621370716 | ACADS | c.*34G>A (n.*34G>A) | gnomAD v4 |
12 | g.120739482G>T | CA2621370718 | ACADS | c.*34G>T (n.*34G>T) | gnomAD v4 |
12 | g.120739483_120739486del | CA2575321557 | ACADS | c.*35_*38del (n.*35_*38del) | |
12 | g.120739483C>A | CA2621370721 | ACADS | c.*35C>A (n.*35C>A) | gnomAD v4 |
12 | g.120739483C= | CA2067555905 | ACADS | c.*35C= (n.*35C=) | |
12 | g.120739483C>G | CA2621370722 | ACADS | c.*35C>G (n.*35C>G) | gnomAD v4 |
12 | g.120739483C>T | CA6831264 | ACADS | c.*35C>T (n.*35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739484G>A | CA6831265 | ACADS | c.*36G>A (n.*36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739484G= | CA2067555906 | ACADS | c.*36G= (n.*36G=) | |
12 | g.120739484G>T | CA2621370727 | ACADS | c.*36G>T (n.*36G>T) | gnomAD v4 |
12 | g.120739485C>A | CA2621370730 | ACADS | c.*37C>A (n.*37C>A) | gnomAD v4 |
12 | g.120739485C= | CA2067555907 | ACADS | c.*37C= (n.*37C=) | |
12 | g.120739485C>G | CA2727053275 | ACADS | c.*37C>G (n.*37C>G) | dbSNP |
12 | g.120739485C>T | CA6831266 | ACADS | c.*37C>T (n.*37C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739486G>A | CA244495777 | ACADS | c.*38G>A (n.*38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739486G= | CA2067555908 | ACADS | c.*38G= (n.*38G=) | |
12 | g.120739486G>T | CA6831268 | ACADS | c.*38G>T (n.*38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739488dup | CA6831267 | ACADS | c.*40dup (n.*40dup) | dbSNP ExAC |
12 | g.120739487G>A | CA2621370743 | ACADS | c.*39G>A (n.*39G>A) | gnomAD v4 |
12 | g.120739487G>C | CA6831269 | ACADS | c.*39G>C (n.*39G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739487G= | CA2067555909 | ACADS | c.*39G= (n.*39G=) | |
12 | g.120739488G= | CA2067555910 | ACADS | c.*40G= (n.*40G=) | |
12 | g.120739488G>T | CA608060009 | ACADS | c.*40G>T (n.*40G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |