| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68784799G>C | CA2574903286 | CPT1A | c.1163+16C>G (n.1163+16C>G) c.1259+16C>G (n.1259+16C>G) | |
| 11 | g.68784799G>T | CA2614735460 | CPT1A | c.1163+16C>A (n.1163+16C>A) c.1259+16C>A (n.1259+16C>A) | gnomAD v4 |
| 11 | g.68784801C>A | CA2614735462 | CPT1A | c.1163+14G>T (n.1163+14G>T) c.1259+14G>T (n.1259+14G>T) | gnomAD v4 |
| 11 | g.68784801C>T | CA2614735461 | CPT1A | c.1163+14G>A (n.1163+14G>A) c.1259+14G>A (n.1259+14G>A) | gnomAD v4 |
| 11 | g.68784803T>C | CA2739270626 | CPT1A | c.1163+12A>G (n.1163+12A>G) c.1259+12A>G (n.1259+12A>G) | |
| 11 | g.68784807C>A | CA2614735467 | CPT1A | c.1163+8G>T (n.1163+8G>T) c.1259+8G>T (n.1259+8G>T) | gnomAD v4 |
| 11 | g.68784807C>G | CA6152399 | CPT1A | c.1163+8G>C (n.1163+8G>C) c.1259+8G>C (n.1259+8G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784807C>T | CA2573147552 | CPT1A | c.1163+8G>A (n.1163+8G>A) c.1259+8G>A (n.1259+8G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68784807_68784812dup | CA2574903287 | CPT1A | c.1163+3_1163+8dup (n.1163+3_1163+8dup) c.1259+3_1259+8dup (n.1259+3_1259+8dup) | |
| 11 | g.68784808T>C | CA2614735468 | CPT1A | c.1163+7A>G (n.1163+7A>G) c.1259+7A>G (n.1259+7A>G) | gnomAD v4 |
| 11 | g.68784809G>A | CA2614735469 | CPT1A | c.1163+6C>T (n.1163+6C>T) c.1259+6C>T (n.1259+6C>T) | gnomAD v4 |
| 11 | g.68784809G>T | CA939177282 | CPT1A | c.1163+6C>A (n.1163+6C>A) c.1259+6C>A (n.1259+6C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784810C>A | CA6152401 | CPT1A | c.1163+5G>T (n.1163+5G>T) c.1259+5G>T (n.1259+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784810C>T | CA6152400 | CPT1A | c.1163+5G>A (n.1163+5G>A) c.1259+5G>A (n.1259+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784811G>A | CA6152402 | CPT1A | c.1163+4C>T (n.1163+4C>T) c.1259+4C>T (n.1259+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784812C>T | CA6152403 | CPT1A | c.1163+3G>A (n.1163+3G>A) c.1259+3G>A (n.1259+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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) |