Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68784813A>C | CA381632573 | CPT1A | c.1163+2T>G (n.1163+2T>G) c.1259+2T>G (n.1259+2T>G) | |
11 | g.68784813A>G | CA381632577 | CPT1A | c.1163+2T>C (n.1163+2T>C) c.1259+2T>C (n.1259+2T>C) | ClinVar dbSNP |
11 | g.68784813A>T | CA381632580 | CPT1A | c.1163+2T>A (n.1163+2T>A) c.1259+2T>A (n.1259+2T>A) | |
11 | g.68784814C>A | CA381632582 | CPT1A | c.1163+1G>T (n.1163+1G>T) c.1259+1G>T (n.1259+1G>T) | |
11 | g.68784814C>G | CA381632586 | CPT1A | c.1163+1G>C (n.1163+1G>C) c.1259+1G>C (n.1259+1G>C) | |
11 | g.68784814C>T | CA6152404 | CPT1A | c.1163+1G>A (n.1163+1G>A) c.1259+1G>A (n.1259+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68784815C>A | CA381632590 | CPT1A | c.1163G>T (p.Arg388Ile) c.1259G>T (p.Arg420Ile) | |
11 | g.68784815C>G | CA381632593 | CPT1A | c.1163G>C (p.Arg388Thr) c.1259G>C (p.Arg420Thr) | |
11 | g.68784815C>T | CA381632595 | CPT1A | c.1163G>A (p.Arg388Lys) c.1259G>A (p.Arg420Lys) | |
11 | g.68784816T>A | CA381632599 | CPT1A | c.1162A>T (p.Arg388Ter) c.1258A>T (p.Arg420Ter) | |
11 | g.68784816T>C | CA381632601 | CPT1A | c.1162A>G (p.Arg388Gly) c.1258A>G (p.Arg420Gly) | |
11 | g.68784816T>G | CA475196558 | CPT1A | c.1162A>C (p.Arg388=) c.1258A>C (p.Arg420=) | |
11 | g.68784817G>A | CA475196560 | CPT1A | c.1161C>T (p.Asp387=) c.1257C>T (p.Asp419=) | |
11 | g.68784817G>C | CA381632602 | CPT1A | c.1161C>G (p.Asp387Glu) c.1257C>G (p.Asp419Glu) | |
11 | g.68784817G>T | CA381632607 | CPT1A | c.1161C>A (p.Asp387Glu) c.1257C>A (p.Asp419Glu) | |
11 | g.68784818T>A | CA381632615 | CPT1A | c.1160A>T (p.Asp387Val) c.1256A>T (p.Asp419Val) | ClinVar |
11 | g.68784818T>C | CA381632610 | CPT1A | c.1160A>G (p.Asp387Gly) c.1256A>G (p.Asp419Gly) | |
11 | g.68784818T>G | CA381632613 | CPT1A | c.1160A>C (p.Asp387Ala) c.1256A>C (p.Asp419Ala) | |
11 | g.68784819C>A | CA381632618 | CPT1A | c.1159G>T (p.Asp387Tyr) c.1255G>T (p.Asp419Tyr) | |
11 | g.68784819C>G | CA381632619 | CPT1A | c.1159G>C (p.Asp387His) c.1255G>C (p.Asp419His) | |
11 | g.68784819C>T | CA6152405 | CPT1A | c.1159G>A (p.Asp387Asn) c.1255G>A (p.Asp419Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68784820T>A | CA475196571 | CPT1A | c.1158A>T (p.Gly386=) c.1254A>T (p.Gly418=) | |
11 | g.68784820T>C | CA475196568 | CPT1A | c.1158A>G (p.Gly386=) c.1254A>G (p.Gly418=) | |
11 | g.68784820T>G | CA475196574 | CPT1A | c.1158A>C (p.Gly386=) c.1254A>C (p.Gly418=) | |
11 | g.68784821C>A | CA381632624 | CPT1A | c.1157G>T (p.Gly386Val) c.1253G>T (p.Gly418Val) | |
11 | g.68784821C>G | CA6152406 | CPT1A | c.1157G>C (p.Gly386Ala) c.1253G>C (p.Gly418Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68784821C>T | CA381632628 | CPT1A | c.1157G>A (p.Gly386Glu) c.1253G>A (p.Gly418Glu) | COSMIC COSMIC |
11 | g.68784822C>A | CA381632631 | CPT1A | c.1156G>T (p.Gly386Ter) c.1252G>T (p.Gly418Ter) | |
11 | g.68784822C>G | CA381632634 | CPT1A | c.1156G>C (p.Gly386Arg) c.1252G>C (p.Gly418Arg) | |
11 | g.68784822C>T | CA381632636 | CPT1A | c.1156G>A (p.Gly386Arg) c.1252G>A (p.Gly418Arg) | |
11 | g.68784823T>A | CA475196579 | CPT1A | c.1155A>T (p.Ala385=) c.1251A>T (p.Ala417=) | |
11 | g.68784823T>C | CA475196582 | CPT1A | c.1155A>G (p.Ala385=) c.1251A>G (p.Ala417=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68784823T>G | CA475196586 | CPT1A | c.1155A>C (p.Ala385=) c.1251A>C (p.Ala417=) | |
11 | g.68784824G>A | CA381632638 | CPT1A | c.1154C>T (p.Ala385Val) c.1250C>T (p.Ala417Val) | |
11 | g.68784824G>C | CA381632639 | CPT1A | c.1154C>G (p.Ala385Gly) c.1250C>G (p.Ala417Gly) | |
11 | g.68784824G>T | CA381632642 | CPT1A | c.1154C>A (p.Ala385Glu) c.1250C>A (p.Ala417Glu) | gnomAD v4 |
11 | g.68784825C>A | CA381632646 | CPT1A | c.1153G>T (p.Ala385Ser) c.1249G>T (p.Ala417Ser) | |
11 | g.68784825C>G | CA381632645 | CPT1A | c.1153G>C (p.Ala385Pro) c.1249G>C (p.Ala417Pro) | gnomAD v4 |
11 | g.68784825C>T | CA6152407 | CPT1A | c.1153G>A (p.Ala385Thr) c.1249G>A (p.Ala417Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68784826G>A | CA6152408 | CPT1A | c.1152C>T (p.Thr384=) c.1248C>T (p.Thr416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68784826G>C | CA475196600 | CPT1A | c.1152C>G (p.Thr384=) c.1248C>G (p.Thr416=) | |
11 | g.68784826G>T | CA475196601 | CPT1A | c.1152C>A (p.Thr384=) c.1248C>A (p.Thr416=) | gnomAD v4 |
11 | g.68784827G>A | CA381632649 | CPT1A | c.1151C>T (p.Thr384Ile) c.1247C>T (p.Thr416Ile) | gnomAD v4 |
11 | g.68784827G>C | CA381632652 | CPT1A | c.1151C>G (p.Thr384Ser) c.1247C>G (p.Thr416Ser) | |
11 | g.68784827G>T | CA381632650 | CPT1A | c.1151C>A (p.Thr384Asn) c.1247C>A (p.Thr416Asn) | |
11 | g.68784828T>A | CA381632654 | CPT1A | c.1150A>T (p.Thr384Ser) c.1246A>T (p.Thr416Ser) | |
11 | g.68784828T>C | CA381632657 | CPT1A | c.1150A>G (p.Thr384Ala) c.1246A>G (p.Thr416Ala) | |
11 | g.68784828T>G | CA381632659 | CPT1A | c.1150A>C (p.Thr384Pro) c.1246A>C (p.Thr416Pro) | |
11 | g.68784829G>A | CA475196609 | CPT1A | c.1149C>T (p.Leu383=) c.1245C>T (p.Leu415=) | dbSNP |
11 | g.68784829G>C | CA475196612 | CPT1A | c.1149C>G (p.Leu383=) c.1245C>G (p.Leu415=) |