| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68759548G>T | CA939164706 | CPT1A | c.2235+21C>A (n.2235+21C>A) c.2331+21C>A (n.2331+21C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759549G>A | CA599985061 | CPT1A | c.2235+20C>T (n.2235+20C>T) c.2331+20C>T (n.2331+20C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759549G>T | CA2614740220 | CPT1A | c.2235+20C>A (n.2235+20C>A) c.2331+20C>A (n.2331+20C>A) | ClinVar gnomAD v4 |
| 11 | g.68759553T>C | CA2574903036 | CPT1A | c.2235+16A>G (n.2235+16A>G) c.2331+16A>G (n.2331+16A>G) | ClinVar gnomAD v4 |
| 11 | g.68759554T>G | CA2697548777 | CPT1A | c.2235+15A>C (n.2235+15A>C) c.2331+15A>C (n.2331+15A>C) | ClinVar |
| 11 | g.68759555C>A | CA679630354 | CPT1A | c.2235+14G>T (n.2235+14G>T) c.2331+14G>T (n.2331+14G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759555C>T | CA6152038 | CPT1A | c.2235+14G>A (n.2235+14G>A) c.2331+14G>A (n.2331+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759560C>T | CA1139662066 | CPT1A | c.2235+9G>A (n.2235+9G>A) c.2331+9G>A (n.2331+9G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68759561A>G | CA2740093090 | CPT1A | c.2235+8T>C (n.2235+8T>C) c.2331+8T>C (n.2331+8T>C) | ClinVar |
| 11 | g.68759562T>C | CA2724352230 | CPT1A | c.2235+7A>G (n.2235+7A>G) c.2331+7A>G (n.2331+7A>G) | dbSNP |
| 11 | g.68759563A>G | CA2614740233 | CPT1A | c.2235+6T>C (n.2235+6T>C) c.2331+6T>C (n.2331+6T>C) | gnomAD v4 |
| 11 | g.68759564C>T | CA6152039 | CPT1A | c.2235+5G>A (n.2235+5G>A) c.2331+5G>A (n.2331+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759565A>G | CA6152040 | CPT1A | c.2235+4T>C (n.2235+4T>C) c.2331+4T>C (n.2331+4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759565A>T | CA2517596326 | CPT1A | c.2235+4T>A (n.2235+4T>A) c.2331+4T>A (n.2331+4T>A) | |
| 11 | g.68759566T>C | CA2614740237 | CPT1A | c.2235+3A>G (n.2235+3A>G) c.2331+3A>G (n.2331+3A>G) | gnomAD v4 |
| 11 | g.68759567A>C | CA381625330 | CPT1A | c.2235+2T>G (n.2235+2T>G) c.2331+2T>G (n.2331+2T>G) | |
| 11 | g.68759567A>G | CA381625331 | CPT1A | c.2235+2T>C (n.2235+2T>C) c.2331+2T>C (n.2331+2T>C) | gnomAD v4 |
| 11 | g.68759567A>T | CA381625334 | CPT1A | c.2235+2T>A (n.2235+2T>A) c.2331+2T>A (n.2331+2T>A) | |
| 11 | g.68759568C>A | CA381625336 | CPT1A | c.2235+1G>T (n.2235+1G>T) c.2331+1G>T (n.2331+1G>T) | |
| 11 | g.68759568C>G | CA381625338 | CPT1A | c.2235+1G>C (n.2235+1G>C) c.2331+1G>C (n.2331+1G>C) | |
| 11 | g.68759568C>T | CA381625340 | CPT1A | c.2235+1G>A (n.2235+1G>A) c.2331+1G>A (n.2331+1G>A) | gnomAD v4 |
| 11 | g.68759569C>A | CA475181611 | CPT1A | c.2235G>T (p.Thr745=) c.2331G>T (p.Thr777=) | |
| 11 | g.68759569C>G | CA475181612 | CPT1A | c.2235G>C (p.Thr745=) c.2331G>C (p.Thr777=) | |
| 11 | g.68759569C>T | CA6152041 | CPT1A | c.2235G>A (p.Thr745=) c.2331G>A (p.Thr777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759570del | CA3054213734 | CPT1A | c.2234del (p.Thr745ArgfsTer10) c.2234del (p.Thr745ArgfsTer4) c.2330del (p.Thr777ArgfsTer10) c.2330del (p.Thr777ArgfsTer4) | ClinVar |
| 11 | g.68759570G>A | CA6152042 | CPT1A | c.2234C>T (p.Thr745Met) c.2330C>T (p.Thr777Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68759570G>C | CA381625350 | CPT1A | c.2234C>G (p.Thr745Arg) c.2330C>G (p.Thr777Arg) | |
| 11 | g.68759570G>T | CA381625345 | CPT1A | c.2234C>A (p.Thr745Lys) c.2330C>A (p.Thr777Lys) | gnomAD v4 |
| 11 | g.68759571T>A | CA381625357 | CPT1A | c.2233A>T (p.Thr745Ser) c.2329A>T (p.Thr777Ser) | |
| 11 | g.68759571T>C | CA381625353 | CPT1A | c.2233A>G (p.Thr745Ala) c.2329A>G (p.Thr777Ala) | |
| 11 | g.68759571T>G | CA381625355 | CPT1A | c.2233A>C (p.Thr745Pro) c.2329A>C (p.Thr777Pro) | |
| 11 | g.68759572C>A | CA381625359 | CPT1A | c.2232G>T (p.Glu744Asp) c.2328G>T (p.Glu776Asp) | |
| 11 | g.68759572C>G | CA381625361 | CPT1A | c.2232G>C (p.Glu744Asp) c.2328G>C (p.Glu776Asp) | |
| 11 | g.68759572C>T | CA475181613 | CPT1A | c.2232G>A (p.Glu744=) c.2328G>A (p.Glu776=) | |
| 11 | g.68759573T>A | CA381625364 | CPT1A | c.2231A>T (p.Glu744Val) c.2327A>T (p.Glu776Val) | |
| 11 | g.68759573T>C | CA381625367 | CPT1A | c.2231A>G (p.Glu744Gly) c.2327A>G (p.Glu776Gly) | |
| 11 | g.68759573T>G | CA381625369 | CPT1A | c.2231A>C (p.Glu744Ala) c.2327A>C (p.Glu776Ala) | |
| 11 | g.68759574C>A | CA381625372 | CPT1A | c.2230G>T (p.Glu744Ter) c.2326G>T (p.Glu776Ter) | |
| 11 | g.68759574C>G | CA381625374 | CPT1A | c.2230G>C (p.Glu744Gln) c.2326G>C (p.Glu776Gln) | |
| 11 | g.68759574C>T | CA381625376 | CPT1A | c.2230G>A (p.Glu744Lys) c.2326G>A (p.Glu776Lys) | COSMIC |
| 11 | g.68759575A>C | CA475181614 | CPT1A | c.2229T>G (p.Pro743=) c.2325T>G (p.Pro775=) | |
| 11 | g.68759575A>G | CA475181615 | CPT1A | c.2229T>C (p.Pro743=) c.2325T>C (p.Pro775=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759575A>T | CA475181616 | CPT1A | c.2229T>A (p.Pro743=) c.2325T>A (p.Pro775=) | |
| 11 | g.68759576G>A | CA381625379 | CPT1A | c.2228C>T (p.Pro743Leu) c.2324C>T (p.Pro775Leu) | gnomAD v4 |
| 11 | g.68759576G>C | CA381625381 | CPT1A | c.2228C>G (p.Pro743Arg) c.2324C>G (p.Pro775Arg) | |
| 11 | g.68759576G>T | CA381625383 | CPT1A | c.2228C>A (p.Pro743His) c.2324C>A (p.Pro775His) | |
| 11 | g.68759577_68759608del | CA645575722 | CPT1A | c.2197_2228del (p.Asn733Ter) c.2293_2324del (p.Asn765Ter) | COSMIC |
| 11 | g.68759577G>A | CA381625390 | CPT1A | c.2227C>T (p.Pro743Ser) c.2323C>T (p.Pro775Ser) | |
| 11 | g.68759577G>C | CA381625386 | CPT1A | c.2227C>G (p.Pro743Ala) c.2323C>G (p.Pro775Ala) | |
| 11 | g.68759577G>T | CA6152043 | CPT1A | c.2227C>A (p.Pro743Thr) c.2323C>A (p.Pro775Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |