Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.68761581T>G | CA381626602 | CPT1A | c.1982A>C (p.Tyr661Ser) c.2078A>C (p.Tyr693Ser) | COSMIC COSMIC |
11 | g.68761582A>C | CA381626605 | CPT1A | c.1981T>G (p.Tyr661Asp) c.2077T>G (p.Tyr693Asp) | |
11 | g.68761582A>G | CA381626607 | CPT1A | c.1981T>C (p.Tyr661His) c.2077T>C (p.Tyr693His) | |
11 | g.68761582A>T | CA381626610 | CPT1A | c.1981T>A (p.Tyr661Asn) c.2077T>A (p.Tyr693Asn) | |
11 | g.68761583A>C | CA475182652 | CPT1A | c.1980T>G (p.Leu660=) c.2076T>G (p.Leu692=) | |
11 | g.68761583A>G | CA475182654 | CPT1A | c.1980T>C (p.Leu660=) c.2076T>C (p.Leu692=) | |
11 | g.68761583A>T | CA475182655 | CPT1A | c.1980T>A (p.Leu660=) c.2076T>A (p.Leu692=) | |
11 | g.68761584A>C | CA381626615 | CPT1A | c.1979T>G (p.Leu660Arg) c.2075T>G (p.Leu692Arg) | |
11 | g.68761584A>G | CA381626617 | CPT1A | c.1979T>C (p.Leu660Pro) c.2075T>C (p.Leu692Pro) | |
11 | g.68761584A>T | CA381626613 | CPT1A | c.1979T>A (p.Leu660His) c.2075T>A (p.Leu692His) | |
11 | g.68761585G>A | CA381626621 | CPT1A | c.1978C>T (p.Leu660Phe) c.2074C>T (p.Leu692Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68761585G>C | CA381626623 | CPT1A | c.1978C>G (p.Leu660Val) c.2074C>G (p.Leu692Val) | |
11 | g.68761585G>T | CA381626625 | CPT1A | c.1978C>A (p.Leu660Ile) c.2074C>A (p.Leu692Ile) | |
11 | g.68761586G>A | CA475182665 | CPT1A | c.1977C>T (p.Cys659=) c.2073C>T (p.Cys691=) | gnomAD v4 |
11 | g.68761586G>C | CA381626626 | CPT1A | c.1977C>G (p.Cys659Trp) c.2073C>G (p.Cys691Trp) | |
11 | g.68761586G>T | CA381626629 | CPT1A | c.1977C>A (p.Cys659Ter) c.2073C>A (p.Cys691Ter) | |
11 | g.68761587C>A | CA381626632 | CPT1A | c.1976G>T (p.Cys659Phe) c.2072G>T (p.Cys691Phe) | |
11 | g.68761587C>G | CA381626635 | CPT1A | c.1976G>C (p.Cys659Ser) c.2072G>C (p.Cys691Ser) | |
11 | g.68761587C>T | CA381626637 | CPT1A | c.1976G>A (p.Cys659Tyr) c.2072G>A (p.Cys691Tyr) | |
11 | g.68761588A>C | CA381626640 | CPT1A | c.1975T>G (p.Cys659Gly) c.2071T>G (p.Cys691Gly) | |
11 | g.68761588A>G | CA381626642 | CPT1A | c.1975T>C (p.Cys659Arg) c.2071T>C (p.Cys691Arg) | gnomAD v4 |
11 | g.68761588A>T | CA381626644 | CPT1A | c.1975T>A (p.Cys659Ser) c.2071T>A (p.Cys691Ser) | |
11 | g.68761589G>A | CA475182679 | CPT1A | c.1974C>T (p.Phe658=) c.2070C>T (p.Phe690=) | dbSNP |
11 | g.68761589G>C | CA381626646 | CPT1A | c.1974C>G (p.Phe658Leu) c.2070C>G (p.Phe690Leu) | |
11 | g.68761589G>T | CA381626647 | CPT1A | c.1974C>A (p.Phe658Leu) c.2070C>A (p.Phe690Leu) | |
11 | g.68761590A>C | CA381626650 | CPT1A | c.1973T>G (p.Phe658Cys) c.2069T>G (p.Phe690Cys) |