| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68803977T>C | CA2614741000 | CPT1A | c.555+23A>G (n.555+23A>G) c.651+23A>G (n.651+23A>G) | gnomAD v4 |
| 11 | g.68803978G>T | CA2574903438 | CPT1A | c.555+22C>A (n.555+22C>A) c.651+22C>A (n.651+22C>A) | gnomAD v4 |
| 11 | g.68803980G>T | CA2614741001 | CPT1A | c.555+20C>A (n.555+20C>A) c.651+20C>A (n.651+20C>A) | gnomAD v4 |
| 11 | g.68803982G>A | CA2614741002 | CPT1A | c.555+18C>T (n.555+18C>T) c.651+18C>T (n.651+18C>T) | gnomAD v4 |
| 11 | g.68803982G>T | CA2574903439 | CPT1A | c.555+18C>A (n.555+18C>A) c.651+18C>A (n.651+18C>A) | dbSNP gnomAD v4 |
| 11 | g.68803983G>A | CA2614741004 | CPT1A | c.555+17C>T (n.555+17C>T) c.651+17C>T (n.651+17C>T) | gnomAD v4 |
| 11 | g.68803983G>T | CA2574903440 | CPT1A | c.555+17C>A (n.555+17C>A) c.651+17C>A (n.651+17C>A) | dbSNP gnomAD v4 |
| 11 | g.68803984C>T | CA6152630 | CPT1A | c.555+16G>A (n.555+16G>A) c.651+16G>A (n.651+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68803988del | CA2574903441 | CPT1A | c.555+13del (n.555+13del) c.651+13del (n.651+13del) | gnomAD v4 |
| 11 | g.68803989G>T | CA2614741008 | CPT1A | c.555+11C>A (n.555+11C>A) c.651+11C>A (n.651+11C>A) | gnomAD v4 |
| 11 | g.68803991C>T | CA2573147547 | CPT1A | c.555+9G>A (n.555+9G>A) c.651+9G>A (n.651+9G>A) | ClinVar dbSNP |
| 11 | g.68803994_68803995dup | CA2614741013 | CPT1A | c.555+8_555+9dup (n.555+8_555+9dup) c.651+8_651+9dup (n.651+8_651+9dup) | gnomAD v4 |
| 11 | g.68803993C>T | CA2614741014 | CPT1A | c.555+7G>A (n.555+7G>A) c.651+7G>A (n.651+7G>A) | gnomAD v4 |
| 11 | g.68803994A>G | CA6152631 | CPT1A | c.555+6T>C (n.555+6T>C) c.651+6T>C (n.651+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68803995C>A | CA2574903442 | CPT1A | c.555+5G>T (n.555+5G>T) c.651+5G>T (n.651+5G>T) | |
| 11 | g.68803995C>G | CA2614741021 | CPT1A | c.555+5G>C (n.555+5G>C) c.651+5G>C (n.651+5G>C) | gnomAD v4 |
| 11 | g.68803995C>T | CA2614741023 | CPT1A | c.555+5G>A (n.555+5G>A) c.651+5G>A (n.651+5G>A) | gnomAD v4 |
| 11 | g.68803996C>T | CA2574903443 | CPT1A | c.555+4G>A (n.555+4G>A) c.651+4G>A (n.651+4G>A) | |
| 11 | g.68803997T>C | CA2614741025 | CPT1A | c.555+3A>G (n.555+3A>G) c.651+3A>G (n.651+3A>G) | gnomAD v4 |
| 11 | g.68803998del | CA2574903444 | CPT1A | c.555+2del (n.555+2del) c.651+2del (n.651+2del) | |
| 11 | g.68803998A>C | CA381635935 | CPT1A | c.555+2T>G (n.555+2T>G) c.651+2T>G (n.651+2T>G) | |
| 11 | g.68803998A>G | CA381635936 | CPT1A | c.555+2T>C (n.555+2T>C) c.651+2T>C (n.651+2T>C) | |
| 11 | g.68803998A>T | CA381635937 | CPT1A | c.555+2T>A (n.555+2T>A) c.651+2T>A (n.651+2T>A) | |
| 11 | g.68803999C>A | CA381635938 | CPT1A | c.555+1G>T (n.555+1G>T) c.651+1G>T (n.651+1G>T) | |
| 11 | g.68803999C>G | CA381635939 | CPT1A | c.555+1G>C (n.555+1G>C) c.651+1G>C (n.651+1G>C) | |
| 11 | g.68803999C>T | CA381635940 | CPT1A | c.555+1G>A (n.555+1G>A) c.651+1G>A (n.651+1G>A) | |
| 11 | g.68804000C>A | CA381635941 | CPT1A | c.555G>T (p.Arg185Ser) c.651G>T (p.Arg217Ser) | |
| 11 | g.68804000C>G | CA381635942 | CPT1A | c.555G>C (p.Arg185Ser) c.651G>C (p.Arg217Ser) | |
| 11 | g.68804000C>T | CA475205347 | CPT1A | c.555G>A (p.Arg185=) c.651G>A (p.Arg217=) | dbSNP |
| 11 | g.68804001C>A | CA381635943 | CPT1A | c.554G>T (p.Arg185Met) c.650G>T (p.Arg217Met) | |
| 11 | g.68804001C>G | CA381635944 | CPT1A | c.554G>C (p.Arg185Thr) c.650G>C (p.Arg217Thr) | |
| 11 | g.68804001C>T | CA381635945 | CPT1A | c.554G>A (p.Arg185Lys) c.650G>A (p.Arg217Lys) | |
| 11 | g.68804002T>A | CA381635946 | CPT1A | c.553A>T (p.Arg185Trp) c.649A>T (p.Arg217Trp) | |
| 11 | g.68804002T>C | CA381635947 | CPT1A | c.553A>G (p.Arg185Gly) c.649A>G (p.Arg217Gly) | dbSNP |
| 11 | g.68804002T>G | CA475205348 | CPT1A | c.553A>C (p.Arg185=) c.649A>C (p.Arg217=) | ClinVar |
| 11 | g.68804003G>A | CA475205349 | CPT1A | c.552C>T (p.Asn184=) c.648C>T (p.Asn216=) | gnomAD v4 |
| 11 | g.68804003G>C | CA381635949 | CPT1A | c.552C>G (p.Asn184Lys) c.648C>G (p.Asn216Lys) | |
| 11 | g.68804003G>T | CA381635948 | CPT1A | c.552C>A (p.Asn184Lys) c.648C>A (p.Asn216Lys) | |
| 11 | g.68804004T>A | CA381635950 | CPT1A | c.551A>T (p.Asn184Ile) c.647A>T (p.Asn216Ile) | |
| 11 | g.68804004T>C | CA381635951 | CPT1A | c.551A>G (p.Asn184Ser) c.647A>G (p.Asn216Ser) | |
| 11 | g.68804004T>G | CA381635952 | CPT1A | c.551A>C (p.Asn184Thr) c.647A>C (p.Asn216Thr) | |
| 11 | g.68804005T>A | CA381635953 | CPT1A | c.550A>T (p.Asn184Tyr) c.646A>T (p.Asn216Tyr) | |
| 11 | g.68804005T>C | CA381635954 | CPT1A | c.550A>G (p.Asn184Asp) c.646A>G (p.Asn216Asp) | |
| 11 | g.68804005T>G | CA381635955 | CPT1A | c.550A>C (p.Asn184His) c.646A>C (p.Asn216His) | |
| 11 | g.68804006C>A | CA475205351 | CPT1A | c.549G>T (p.Val183=) c.645G>T (p.Val215=) | |
| 11 | g.68804006C>G | CA475205350 | CPT1A | c.549G>C (p.Val183=) c.645G>C (p.Val215=) | |
| 11 | g.68804006C>T | CA475205352 | CPT1A | c.549G>A (p.Val183=) c.645G>A (p.Val215=) | |
| 11 | g.68804008_68804009del | CA10603989 | CPT1A | c.548_549del (p.Val183GlufsTer?) c.644_645del (p.Val215GlufsTer?) | ClinVar dbSNP |
| 11 | g.68804007A>C | CA381635956 | CPT1A | c.548T>G (p.Val183Gly) c.644T>G (p.Val215Gly) | |
| 11 | g.68804007A>G | CA381635957 | CPT1A | c.548T>C (p.Val183Ala) c.644T>C (p.Val215Ala) |