| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.83278981A>C | CA357230478 | COQ2 | c.537T>G (p.Ile179Met) c.387T>G (p.Ile129Met) c.78T>G (p.Ile26Met) n.299T>G c.183T>G (p.Ile61Met) n.696T>G n.712T>G n.418T>G | |
| 4 | g.83278981A>G | CA440108483 | COQ2 | c.537T>C (p.Ile179=) c.387T>C (p.Ile129=) c.78T>C (p.Ile26=) n.299T>C c.183T>C (p.Ile61=) n.696T>C n.712T>C n.418T>C | |
| 4 | g.83278981A>T | CA440108487 | COQ2 | c.537T>A (p.Ile179=) c.387T>A (p.Ile129=) c.78T>A (p.Ile26=) n.299T>A c.183T>A (p.Ile61=) n.696T>A n.712T>A n.418T>A | |
| 4 | g.83278982A>C | CA357230479 | COQ2 | c.536T>G (p.Ile179Ser) c.386T>G (p.Ile129Ser) c.77T>G (p.Ile26Ser) n.298T>G c.182T>G (p.Ile61Ser) n.695T>G n.711T>G n.417T>G | |
| 4 | g.83278982A>G | CA357230480 | COQ2 | c.536T>C (p.Ile179Thr) c.386T>C (p.Ile129Thr) c.77T>C (p.Ile26Thr) n.298T>C c.182T>C (p.Ile61Thr) n.695T>C n.711T>C n.417T>C | |
| 4 | g.83278982A>T | CA357230481 | COQ2 | c.536T>A (p.Ile179Asn) c.386T>A (p.Ile129Asn) c.77T>A (p.Ile26Asn) n.298T>A c.182T>A (p.Ile61Asn) n.695T>A n.711T>A n.417T>A | |
| 4 | g.83278983T>A | CA357230482 | COQ2 | c.535A>T (p.Ile179Phe) c.385A>T (p.Ile129Phe) c.76A>T (p.Ile26Phe) n.297A>T c.181A>T (p.Ile61Phe) n.694A>T n.710A>T n.416A>T | |
| 4 | g.83278983T>C | CA357230483 | COQ2 | c.535A>G (p.Ile179Val) c.385A>G (p.Ile129Val) c.76A>G (p.Ile26Val) n.297A>G c.181A>G (p.Ile61Val) n.694A>G n.710A>G n.416A>G | |
| 4 | g.83278983T>G | CA357230484 | COQ2 | c.535A>C (p.Ile179Leu) c.385A>C (p.Ile129Leu) c.76A>C (p.Ile26Leu) n.297A>C c.181A>C (p.Ile61Leu) n.694A>C n.710A>C n.416A>C | |
| 4 | g.83278984A= | CA1472713041 | COQ2 | c.534T= (p.Thr178=) c.384T= (p.Thr128=) c.75T= (p.Thr25=) n.296T= c.180T= (p.Thr60=) n.693T= n.709T= n.415T= | |
| 4 | g.83278984A>C | CA440108505 | COQ2 | c.534T>G (p.Thr178=) c.384T>G (p.Thr128=) c.75T>G (p.Thr25=) n.296T>G c.180T>G (p.Thr60=) n.693T>G n.709T>G n.415T>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.83278984A>G | CA440108502 | COQ2 | c.534T>C (p.Thr178=) c.384T>C (p.Thr128=) c.75T>C (p.Thr25=) n.296T>C c.180T>C (p.Thr60=) n.693T>C n.709T>C n.415T>C | |
| 4 | g.83278984A>T | CA440108499 | COQ2 | c.534T>A (p.Thr178=) c.384T>A (p.Thr128=) c.75T>A (p.Thr25=) n.296T>A c.180T>A (p.Thr60=) n.693T>A n.709T>A n.415T>A | |
| 4 | g.83278985G>A | CA357230485 | COQ2 | c.533C>T (p.Thr178Ile) c.383C>T (p.Thr128Ile) c.74C>T (p.Thr25Ile) n.295C>T c.179C>T (p.Thr60Ile) n.692C>T n.708C>T n.414C>T | |
| 4 | g.83278985G>C | CA357230486 | COQ2 | c.533C>G (p.Thr178Ser) c.383C>G (p.Thr128Ser) c.74C>G (p.Thr25Ser) n.295C>G c.179C>G (p.Thr60Ser) n.692C>G n.708C>G n.414C>G | ClinVar |
| 4 | g.83278985G>T | CA357230487 | COQ2 | c.533C>A (p.Thr178Asn) c.383C>A (p.Thr128Asn) c.74C>A (p.Thr25Asn) n.295C>A c.179C>A (p.Thr60Asn) n.692C>A n.708C>A n.414C>A | |
| 4 | g.83278986T>A | CA357230488 | COQ2 | c.532A>T (p.Thr178Ser) c.382A>T (p.Thr128Ser) c.73A>T (p.Thr25Ser) n.294A>T c.178A>T (p.Thr60Ser) n.691A>T n.707A>T n.413A>T | |
| 4 | g.83278986T>C | CA357230489 | COQ2 | c.532A>G (p.Thr178Ala) c.382A>G (p.Thr128Ala) c.73A>G (p.Thr25Ala) n.294A>G c.178A>G (p.Thr60Ala) n.691A>G n.707A>G n.413A>G | gnomAD v4 COSMIC |
| 4 | g.83278986T>G | CA357230490 | COQ2 | c.532A>C (p.Thr178Pro) c.382A>C (p.Thr128Pro) c.73A>C (p.Thr25Pro) n.294A>C c.178A>C (p.Thr60Pro) n.691A>C n.707A>C n.413A>C | |
| 4 | g.83278987A>C | CA357230491 | COQ2 | c.531T>G (p.Cys177Trp) c.381T>G (p.Cys127Trp) c.72T>G (p.Cys24Trp) n.293T>G c.177T>G (p.Cys59Trp) n.690T>G n.706T>G n.412T>G | |
| 4 | g.83278987A>G | CA440108515 | COQ2 | c.531T>C (p.Cys177=) c.381T>C (p.Cys127=) c.72T>C (p.Cys24=) n.293T>C c.177T>C (p.Cys59=) n.690T>C n.706T>C n.412T>C | |
| 4 | g.83278987A>T | CA357230492 | COQ2 | c.531T>A (p.Cys177Ter) c.381T>A (p.Cys127Ter) c.72T>A (p.Cys24Ter) n.293T>A c.177T>A (p.Cys59Ter) n.690T>A n.706T>A n.412T>A | |
| 4 | g.83278988C>A | CA357230493 | COQ2 | c.530G>T (p.Cys177Phe) c.380G>T (p.Cys127Phe) c.71G>T (p.Cys24Phe) n.292G>T c.176G>T (p.Cys59Phe) n.689G>T n.705G>T n.411G>T | |
| 4 | g.83278988C>G | CA357230494 | COQ2 | c.530G>C (p.Cys177Ser) c.380G>C (p.Cys127Ser) c.71G>C (p.Cys24Ser) n.292G>C c.176G>C (p.Cys59Ser) n.689G>C n.705G>C n.411G>C | |
| 4 | g.83278988C>T | CA357230495 | COQ2 | c.530G>A (p.Cys177Tyr) c.380G>A (p.Cys127Tyr) c.71G>A (p.Cys24Tyr) n.292G>A c.176G>A (p.Cys59Tyr) n.689G>A n.705G>A n.411G>A | |
| 4 | g.83278989A>C | CA357230496 | COQ2 | c.529T>G (p.Cys177Gly) c.379T>G (p.Cys127Gly) c.70T>G (p.Cys24Gly) n.291T>G c.175T>G (p.Cys59Gly) n.688T>G n.704T>G n.410T>G | |
| 4 | g.83278989A>G | CA357230497 | COQ2 | c.529T>C (p.Cys177Arg) c.379T>C (p.Cys127Arg) c.70T>C (p.Cys24Arg) n.291T>C c.175T>C (p.Cys59Arg) n.688T>C n.704T>C n.410T>C | |
| 4 | g.83278989A>T | CA357230498 | COQ2 | c.529T>A (p.Cys177Ser) c.379T>A (p.Cys127Ser) c.70T>A (p.Cys24Ser) n.291T>A c.175T>A (p.Cys59Ser) n.688T>A n.704T>A n.410T>A | gnomAD v4 |
| 4 | g.83278990G>A | CA440108528 | COQ2 | c.528C>T (p.Gly176=) c.378C>T (p.Gly126=) c.69C>T (p.Gly23=) n.290C>T c.174C>T (p.Gly58=) n.687C>T n.703C>T n.409C>T | |
| 4 | g.83278990G>C | CA440108530 | COQ2 | c.528C>G (p.Gly176=) c.378C>G (p.Gly126=) c.69C>G (p.Gly23=) n.290C>G c.174C>G (p.Gly58=) n.687C>G n.703C>G n.409C>G | gnomAD v4 |
| 4 | g.83278990G>T | CA440108532 | COQ2 | c.528C>A (p.Gly176=) c.378C>A (p.Gly126=) c.69C>A (p.Gly23=) n.290C>A c.174C>A (p.Gly58=) n.687C>A n.703C>A n.409C>A | |
| 4 | g.83278991C>A | CA357230499 | COQ2 | c.527G>T (p.Gly176Val) c.377G>T (p.Gly126Val) c.68G>T (p.Gly23Val) n.289G>T c.173G>T (p.Gly58Val) n.686G>T n.702G>T n.408G>T | |
| 4 | g.83278991C>G | CA357230500 | COQ2 | c.527G>C (p.Gly176Ala) c.377G>C (p.Gly126Ala) c.68G>C (p.Gly23Ala) n.289G>C c.173G>C (p.Gly58Ala) n.686G>C n.702G>C n.408G>C | |
| 4 | g.83278991C>T | CA357230501 | COQ2 | c.527G>A (p.Gly176Asp) c.377G>A (p.Gly126Asp) c.68G>A (p.Gly23Asp) n.289G>A c.173G>A (p.Gly58Asp) n.686G>A n.702G>A n.408G>A | ClinVar |
| 4 | g.83278992C>A | CA357230502 | COQ2 | c.526G>T (p.Gly176Cys) c.376G>T (p.Gly126Cys) c.67G>T (p.Gly23Cys) n.288G>T c.172G>T (p.Gly58Cys) n.685G>T n.701G>T n.407G>T | |
| 4 | g.83278992C>G | CA357230503 | COQ2 | c.526G>C (p.Gly176Arg) c.376G>C (p.Gly126Arg) c.67G>C (p.Gly23Arg) n.288G>C c.172G>C (p.Gly58Arg) n.685G>C n.701G>C n.407G>C | |
| 4 | g.83278992C>T | CA357230504 | COQ2 | c.526G>A (p.Gly176Ser) c.376G>A (p.Gly126Ser) c.67G>A (p.Gly23Ser) n.288G>A c.172G>A (p.Gly58Ser) n.685G>A n.701G>A n.407G>A | gnomAD v4 |
| 4 | g.83278993T>A | CA440108545 | COQ2 | c.525A>T (p.Ala175=) c.375A>T (p.Ala125=) c.66A>T (p.Ala22=) n.287A>T c.171A>T (p.Ala57=) n.684A>T n.700A>T n.406A>T | |
| 4 | g.83278993T>C | CA440108547 | COQ2 | c.525A>G (p.Ala175=) c.375A>G (p.Ala125=) c.66A>G (p.Ala22=) n.287A>G c.171A>G (p.Ala57=) n.684A>G n.700A>G n.406A>G | gnomAD v4 |
| 4 | g.83278993T>G | CA440108549 | COQ2 | c.525A>C (p.Ala175=) c.375A>C (p.Ala125=) c.66A>C (p.Ala22=) n.287A>C c.171A>C (p.Ala57=) n.684A>C n.700A>C n.406A>C | |
| 4 | g.83278994G>A | CA357230507 | COQ2 | c.524C>T (p.Ala175Val) c.374C>T (p.Ala125Val) c.65C>T (p.Ala22Val) n.286C>T c.170C>T (p.Ala57Val) n.683C>T n.699C>T n.405C>T | gnomAD v4 |
| 4 | g.83278994G>C | CA357230506 | COQ2 | c.524C>G (p.Ala175Gly) c.374C>G (p.Ala125Gly) c.65C>G (p.Ala22Gly) n.286C>G c.170C>G (p.Ala57Gly) n.683C>G n.699C>G n.405C>G | |
| 4 | g.83278994G>T | CA357230505 | COQ2 | c.524C>A (p.Ala175Glu) c.374C>A (p.Ala125Glu) c.65C>A (p.Ala22Glu) n.286C>A c.170C>A (p.Ala57Glu) n.683C>A n.699C>A n.405C>A | |
| 4 | g.83278995C>A | CA357230510 | COQ2 | c.523G>T (p.Ala175Ser) c.373G>T (p.Ala125Ser) c.64G>T (p.Ala22Ser) n.285G>T c.169G>T (p.Ala57Ser) n.682G>T n.698G>T n.404G>T | |
| 4 | g.83278995C>G | CA357230508 | COQ2 | c.523G>C (p.Ala175Pro) c.373G>C (p.Ala125Pro) c.64G>C (p.Ala22Pro) n.285G>C c.169G>C (p.Ala57Pro) n.682G>C n.698G>C n.404G>C | |
| 4 | g.83278995C>T | CA357230509 | COQ2 | c.523G>A (p.Ala175Thr) c.373G>A (p.Ala125Thr) c.64G>A (p.Ala22Thr) n.285G>A c.169G>A (p.Ala57Thr) n.682G>A n.698G>A n.404G>A | |
| 4 | g.83278996T>A | CA440108560 | COQ2 | c.522A>T (p.Gly174=) c.372A>T (p.Gly124=) c.63A>T (p.Gly21=) n.284A>T c.168A>T (p.Gly56=) n.681A>T n.697A>T n.403A>T | |
| 4 | g.83278996T>C | CA440108561 | COQ2 | c.522A>G (p.Gly174=) c.372A>G (p.Gly124=) c.63A>G (p.Gly21=) n.284A>G c.168A>G (p.Gly56=) n.681A>G n.697A>G n.403A>G | |
| 4 | g.83278996T>G | CA440108562 | COQ2 | c.522A>C (p.Gly174=) c.372A>C (p.Gly124=) c.63A>C (p.Gly21=) n.284A>C c.168A>C (p.Gly56=) n.681A>C n.697A>C n.403A>C | |
| 4 | g.83278997C>A | CA357230511 | COQ2 | c.521G>T (p.Gly174Val) c.371G>T (p.Gly124Val) c.62G>T (p.Gly21Val) n.283G>T c.167G>T (p.Gly56Val) n.680G>T n.696G>T n.402G>T |