| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68761566T>A | CA381626512 | CPT1A | c.1997A>T (p.Tyr666Phe) c.2093A>T (p.Tyr698Phe) | |
| 11 | g.68761566T>C | CA381626515 | CPT1A | c.1997A>G (p.Tyr666Cys) c.2093A>G (p.Tyr698Cys) | gnomAD v4 |
| 11 | g.68761566T>G | CA381626517 | CPT1A | c.1997A>C (p.Tyr666Ser) c.2093A>C (p.Tyr698Ser) | |
| 11 | g.68761566_68761567insTTTT | CA16041534 | CPT1A | c.1997_1998insAAAA (p.Tyr666Ter) c.2093_2094insAAAA (p.Tyr698Ter) | ClinVar dbSNP |
| 11 | g.68761567A>C | CA381626520 | CPT1A | c.1996T>G (p.Tyr666Asp) c.2092T>G (p.Tyr698Asp) | |
| 11 | g.68761567A>G | CA381626522 | CPT1A | c.1996T>C (p.Tyr666His) c.2092T>C (p.Tyr698His) | |
| 11 | g.68761567A>T | CA381626524 | CPT1A | c.1996T>A (p.Tyr666Asn) c.2092T>A (p.Tyr698Asn) | |
| 11 | g.68761568T>A | CA381626526 | CPT1A | c.1995A>T (p.Lys665Asn) c.2091A>T (p.Lys697Asn) | |
| 11 | g.68761568T>C | CA475182599 | CPT1A | c.1995A>G (p.Lys665=) c.2091A>G (p.Lys697=) | gnomAD v4 |
| 11 | g.68761568T>G | CA381626529 | CPT1A | c.1995A>C (p.Lys665Asn) c.2091A>C (p.Lys697Asn) | |
| 11 | g.68761568_68761570delinsA | CA2580084747 | CPT1A | c.1993_1995delinsT (p.Lys665LeufsTer10) c.2089_2091delinsT (p.Lys697LeufsTer10) | ClinVar |
| 11 | g.68761569T>A | CA381626532 | CPT1A | c.1994A>T (p.Lys665Ile) c.2090A>T (p.Lys697Ile) | |
| 11 | g.68761569T>C | CA381626534 | CPT1A | c.1994A>G (p.Lys665Arg) c.2090A>G (p.Lys697Arg) | |
| 11 | g.68761569T>G | CA381626535 | CPT1A | c.1994A>C (p.Lys665Thr) c.2090A>C (p.Lys697Thr) | |
| 11 | g.68761570T>A | CA381626544 | CPT1A | c.1993A>T (p.Lys665Ter) c.2089A>T (p.Lys697Ter) | |
| 11 | g.68761570T>C | CA381626541 | CPT1A | c.1993A>G (p.Lys665Glu) c.2089A>G (p.Lys697Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68761570T>G | CA381626539 | CPT1A | c.1993A>C (p.Lys665Gln) c.2089A>C (p.Lys697Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68761571A>C | CA475182609 | CPT1A | c.1992T>G (p.Ser664=) c.2088T>G (p.Ser696=) | |
| 11 | g.68761571A>G | CA475182612 | CPT1A | c.1992T>C (p.Ser664=) c.2088T>C (p.Ser696=) | |
| 11 | g.68761571A>T | CA475182611 | CPT1A | c.1992T>A (p.Ser664=) c.2088T>A (p.Ser696=) | |
| 11 | g.68761572G>A | CA381626547 | CPT1A | c.1991C>T (p.Ser664Phe) c.2087C>T (p.Ser696Phe) | |
| 11 | g.68761572G>C | CA381626551 | CPT1A | c.1991C>G (p.Ser664Cys) c.2087C>G (p.Ser696Cys) | |
| 11 | g.68761572G>T | CA381626549 | CPT1A | c.1991C>A (p.Ser664Tyr) c.2087C>A (p.Ser696Tyr) | |
| 11 | g.68761573A>C | CA381626554 | CPT1A | c.1990T>G (p.Ser664Ala) c.2086T>G (p.Ser696Ala) | |
| 11 | g.68761573A>G | CA381626556 | CPT1A | c.1990T>C (p.Ser664Pro) c.2086T>C (p.Ser696Pro) | |
| 11 | g.68761573A>T | CA381626558 | CPT1A | c.1990T>A (p.Ser664Thr) c.2086T>A (p.Ser696Thr) | |
| 11 | g.68761574C>A | CA475182619 | CPT1A | c.1989G>T (p.Val663=) c.2085G>T (p.Val695=) | dbSNP |
| 11 | g.68761574C>G | CA475182621 | CPT1A | c.1989G>C (p.Val663=) c.2085G>C (p.Val695=) | |
| 11 | g.68761574C>T | CA6152133 | CPT1A | c.1989G>A (p.Val663=) c.2085G>A (p.Val695=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761575A>C | CA381626563 | CPT1A | c.1988T>G (p.Val663Gly) c.2084T>G (p.Val695Gly) | |
| 11 | g.68761575A>G | CA381626565 | CPT1A | c.1988T>C (p.Val663Ala) c.2084T>C (p.Val695Ala) | |
| 11 | g.68761575A>T | CA381626567 | CPT1A | c.1988T>A (p.Val663Glu) c.2084T>A (p.Val695Glu) | |
| 11 | g.68761576C>A | CA381626571 | CPT1A | c.1987G>T (p.Val663Leu) c.2083G>T (p.Val695Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68761576C>G | CA381626573 | CPT1A | c.1987G>C (p.Val663Leu) c.2083G>C (p.Val695Leu) | |
| 11 | g.68761576C>T | CA6152134 | CPT1A | c.1987G>A (p.Val663Met) c.2083G>A (p.Val695Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761577C>A | CA475182629 | CPT1A | c.1986G>T (p.Val662=) c.2082G>T (p.Val694=) | |
| 11 | g.68761577C>G | CA475182631 | CPT1A | c.1986G>C (p.Val662=) c.2082G>C (p.Val694=) | |
| 11 | g.68761577C>T | CA475182633 | CPT1A | c.1986G>A (p.Val662=) c.2082G>A (p.Val694=) | |
| 11 | g.68761578A>C | CA6152135 | CPT1A | c.1985T>G (p.Val662Gly) c.2081T>G (p.Val694Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761578A>G | CA381626580 | CPT1A | c.1985T>C (p.Val662Ala) c.2081T>C (p.Val694Ala) | |
| 11 | g.68761578A>T | CA381626577 | CPT1A | c.1985T>A (p.Val662Glu) c.2081T>A (p.Val694Glu) | |
| 11 | g.68761579C>A | CA381626584 | CPT1A | c.1984G>T (p.Val662Leu) c.2080G>T (p.Val694Leu) | dbSNP |
| 11 | g.68761579C>G | CA381626586 | CPT1A | c.1984G>C (p.Val662Leu) c.2080G>C (p.Val694Leu) | |
| 11 | g.68761579C>T | CA6152136 | CPT1A | c.1984G>A (p.Val662Met) c.2080G>A (p.Val694Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761579dup | CA2573147673 | CPT1A | c.1984dup (p.Val662GlyfsTer4) c.2080dup (p.Val694GlyfsTer4) | ClinVar dbSNP |
| 11 | g.68761580G>A | CA6152137 | CPT1A | c.1983C>T (p.Tyr661=) c.2079C>T (p.Tyr693=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761580G>C | CA381626592 | CPT1A | c.1983C>G (p.Tyr661Ter) c.2079C>G (p.Tyr693Ter) | |
| 11 | g.68761580G>T | CA381626595 | CPT1A | c.1983C>A (p.Tyr661Ter) c.2079C>A (p.Tyr693Ter) | |
| 11 | g.68761581T>A | CA381626598 | CPT1A | c.1982A>T (p.Tyr661Phe) c.2078A>T (p.Tyr693Phe) | |
| 11 | g.68761581T>C | CA381626599 | CPT1A | c.1982A>G (p.Tyr661Cys) c.2078A>G (p.Tyr693Cys) |