| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68759284A>G | CA679630270 | CPT1A | c.2235+285T>C (n.2235+285T>C) c.2331+285T>C (n.2331+285T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759288G>T | CA2792552348 | CPT1A | c.2235+281C>A (n.2235+281C>A) c.2331+281C>A (n.2331+281C>A) | |
| 11 | g.68759290del | CA679630272 | CPT1A | c.2235+281del (n.2235+281del) c.2331+281del (n.2331+281del) | dbSNP |
| 11 | g.68759289G>A | CA2724213792 | CPT1A | c.2235+280C>T (n.2235+280C>T) c.2331+280C>T (n.2331+280C>T) | dbSNP |
| 11 | g.68759289G>C | CA223365547 | CPT1A | c.2235+280C>G (n.2235+280C>G) c.2331+280C>G (n.2331+280C>G) | dbSNP |
| 11 | g.68759292G>A | CA223365549 | CPT1A | c.2235+277C>T (n.2235+277C>T) c.2331+277C>T (n.2331+277C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759293G>C | CA223365556 | CPT1A | c.2235+276C>G (n.2235+276C>G) c.2331+276C>G (n.2331+276C>G) | dbSNP |
| 11 | g.68759295T>A | CA2724352209 | CPT1A | c.2235+274A>T (n.2235+274A>T) c.2331+274A>T (n.2331+274A>T) | dbSNP |
| 11 | g.68759301A>C | CA679630277 | CPT1A | c.2235+268T>G (n.2235+268T>G) c.2331+268T>G (n.2331+268T>G) | dbSNP |
| 11 | g.68759305G>T | CA2724559325 | CPT1A | c.2235+264C>A (n.2235+264C>A) c.2331+264C>A (n.2331+264C>A) | dbSNP |
| 11 | g.68759314G>A | CA679630284 | CPT1A | c.2235+255C>T (n.2235+255C>T) c.2331+255C>T (n.2331+255C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759314G>C | CA679630283 | CPT1A | c.2235+255C>G (n.2235+255C>G) c.2331+255C>G (n.2331+255C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759316G>A | CA2724352210 | CPT1A | c.2235+253C>T (n.2235+253C>T) c.2331+253C>T (n.2331+253C>T) | dbSNP |
| 11 | g.68759318C>G | CA939164565 | CPT1A | c.2235+251G>C (n.2235+251G>C) c.2331+251G>C (n.2331+251G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759319C>G | CA2792552349 | CPT1A | c.2235+250G>C (n.2235+250G>C) c.2331+250G>C (n.2331+250G>C) | |
| 11 | g.68759319C>T | CA223365558 | CPT1A | c.2235+250G>A (n.2235+250G>A) c.2331+250G>A (n.2331+250G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759320G>A | CA223365561 | CPT1A | c.2235+249C>T (n.2235+249C>T) c.2331+249C>T (n.2331+249C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759326C>T | CA2724352211 | CPT1A | c.2235+243G>A (n.2235+243G>A) c.2331+243G>A (n.2331+243G>A) | dbSNP |
| 11 | g.68759327A>G | CA679630289 | CPT1A | c.2235+242T>C (n.2235+242T>C) c.2331+242T>C (n.2331+242T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759328G>C | CA223365562 | CPT1A | c.2235+241C>G (n.2235+241C>G) c.2331+241C>G (n.2331+241C>G) | dbSNP |
| 11 | g.68759330G>A | CA223365563 | CPT1A | c.2235+239C>T (n.2235+239C>T) c.2331+239C>T (n.2331+239C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759331G>C | CA2792552350 | CPT1A | c.2235+238C>G (n.2235+238C>G) c.2331+238C>G (n.2331+238C>G) | |
| 11 | g.68759332T>G | CA939164569 | CPT1A | c.2235+237A>C (n.2235+237A>C) c.2331+237A>C (n.2331+237A>C) | gnomAD v3 gnomAD v4 |
| 11 | g.68759334A>G | CA2724352212 | CPT1A | c.2235+235T>C (n.2235+235T>C) c.2331+235T>C (n.2331+235T>C) | dbSNP |
| 11 | g.68759335C>T | CA2724352213 | CPT1A | c.2235+234G>A (n.2235+234G>A) c.2331+234G>A (n.2331+234G>A) | dbSNP |
| 11 | g.68759336A>G | CA679630291 | CPT1A | c.2235+233T>C (n.2235+233T>C) c.2331+233T>C (n.2331+233T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759337G>A | CA679630292 | CPT1A | c.2235+232C>T (n.2235+232C>T) c.2331+232C>T (n.2331+232C>T) | dbSNP |
| 11 | g.68759339G>A | CA2724352214 | CPT1A | c.2235+230C>T (n.2235+230C>T) c.2331+230C>T (n.2331+230C>T) | dbSNP |
| 11 | g.68759347A>T | CA679630293 | CPT1A | c.2235+222T>A (n.2235+222T>A) c.2331+222T>A (n.2331+222T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759351C>T | CA223365564 | CPT1A | c.2235+218G>A (n.2235+218G>A) c.2331+218G>A (n.2331+218G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759352G>A | CA223365565 | CPT1A | c.2235+217C>T (n.2235+217C>T) c.2331+217C>T (n.2331+217C>T) | dbSNP |
| 11 | g.68759352G>T | CA2724205955 | CPT1A | c.2235+217C>A (n.2235+217C>A) c.2331+217C>A (n.2331+217C>A) | dbSNP |
| 11 | g.68759355C>G | CA2724352215 | CPT1A | c.2235+214G>C (n.2235+214G>C) c.2331+214G>C (n.2331+214G>C) | dbSNP |
| 11 | g.68759359C>A | CA939164575 | CPT1A | c.2235+210G>T (n.2235+210G>T) c.2331+210G>T (n.2331+210G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759360A>C | CA2724263313 | CPT1A | c.2235+209T>G (n.2235+209T>G) c.2331+209T>G (n.2331+209T>G) | dbSNP |
| 11 | g.68759366G>C | CA679630295 | CPT1A | c.2235+203C>G (n.2235+203C>G) c.2331+203C>G (n.2331+203C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759369T>G | CA2724352217 | CPT1A | c.2235+200A>C (n.2235+200A>C) c.2331+200A>C (n.2331+200A>C) | dbSNP |
| 11 | g.68759370G>A | CA223365566 | CPT1A | c.2235+199C>T (n.2235+199C>T) c.2331+199C>T (n.2331+199C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759373C>A | CA939164579 | CPT1A | c.2235+196G>T (n.2235+196G>T) c.2331+196G>T (n.2331+196G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759373C>T | CA599985029 | CPT1A | c.2235+196G>A (n.2235+196G>A) c.2331+196G>A (n.2331+196G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759374G>A | CA679630296 | CPT1A | c.2235+195C>T (n.2235+195C>T) c.2331+195C>T (n.2331+195C>T) | dbSNP |
| 11 | g.68759376_68759377del | CA223365568 | CPT1A | c.2235+193_2235+194del (n.2235+193_2235+194del) c.2331+193_2331+194del (n.2331+193_2331+194del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759378G>A | CA939164582 | CPT1A | c.2235+191C>T (n.2235+191C>T) c.2331+191C>T (n.2331+191C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759378G>C | CA939164580 | CPT1A | c.2235+191C>G (n.2235+191C>G) c.2331+191C>G (n.2331+191C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759380G>A | CA2792552351 | CPT1A | c.2235+189C>T (n.2235+189C>T) c.2331+189C>T (n.2331+189C>T) | |
| 11 | g.68759381T>C | CA939164584 | CPT1A | c.2235+188A>G (n.2235+188A>G) c.2331+188A>G (n.2331+188A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759382G>A | CA223365571 | CPT1A | c.2235+187C>T (n.2235+187C>T) c.2331+187C>T (n.2331+187C>T) | dbSNP COSMIC |
| 11 | g.68759384_68759385del | CA223365569 | CPT1A | c.2235+186_2235+187del (n.2235+186_2235+187del) c.2331+186_2331+187del (n.2331+186_2331+187del) | dbSNP |