WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 4 | g.83278997C= | CA1472713042 | COQ2 | c.521G= (p.Gly174=) c.371G= (p.Gly124=) c.62G= (p.Gly21=) n.283G= c.167G= (p.Gly56=) n.680G= n.696G= n.402G= | |
| 4 | g.83278997C>G | CA357230512 | COQ2 | c.521G>C (p.Gly174Ala) c.371G>C (p.Gly124Ala) c.62G>C (p.Gly21Ala) n.283G>C c.167G>C (p.Gly56Ala) n.680G>C n.696G>C n.402G>C | dbSNP gnomAD v2 |
| 4 | g.83278997C>T | CA357230513 | COQ2 | c.521G>A (p.Gly174Glu) c.371G>A (p.Gly124Glu) c.62G>A (p.Gly21Glu) n.283G>A c.167G>A (p.Gly56Glu) n.680G>A n.696G>A n.402G>A | dbSNP gnomAD v4 |
| 4 | g.83278998C>A | CA357230516 | COQ2 | c.520G>T (p.Gly174Ter) c.370G>T (p.Gly124Ter) c.61G>T (p.Gly21Ter) n.282G>T c.166G>T (p.Gly56Ter) n.679G>T n.695G>T n.401G>T | gnomAD v4 |
| 4 | g.83278998C>G | CA357230515 | COQ2 | c.520G>C (p.Gly174Arg) c.370G>C (p.Gly124Arg) c.61G>C (p.Gly21Arg) n.282G>C c.166G>C (p.Gly56Arg) n.679G>C n.695G>C n.401G>C | |
| 4 | g.83278998C>T | CA357230514 | COQ2 | c.520G>A (p.Gly174Arg) c.370G>A (p.Gly124Arg) c.61G>A (p.Gly21Arg) n.282G>A c.166G>A (p.Gly56Arg) n.679G>A n.695G>A n.401G>A | |
| 4 | g.83278999A= | CA1472713043 | COQ2 | c.519T= (p.Arg173=) c.369T= (p.Arg123=) c.60T= (p.Arg20=) n.281T= c.165T= (p.Arg55=) n.678T= n.694T= n.400T= | |
| 4 | g.83278999A>C | CA440108576 | COQ2 | c.519T>G (p.Arg173=) c.369T>G (p.Arg123=) c.60T>G (p.Arg20=) n.281T>G c.165T>G (p.Arg55=) n.678T>G n.694T>G n.400T>G | |
| 4 | g.83278999A>G | CA440108578 | COQ2 | c.519T>C (p.Arg173=) c.369T>C (p.Arg123=) c.60T>C (p.Arg20=) n.281T>C c.165T>C (p.Arg55=) n.678T>C n.694T>C n.400T>C | dbSNP |
| 4 | g.83278999A>T | CA440108580 | COQ2 | c.519T>A (p.Arg173=) c.369T>A (p.Arg123=) c.60T>A (p.Arg20=) n.281T>A c.165T>A (p.Arg55=) n.678T>A n.694T>A n.400T>A | |
| 4 | g.83279000C>A | CA357230517 | COQ2 | c.518G>T (p.Arg173Leu) c.368G>T (p.Arg123Leu) c.59G>T (p.Arg20Leu) n.280G>T c.164G>T (p.Arg55Leu) n.677G>T n.693G>T n.399G>T | dbSNP gnomAD v4 |
| 4 | g.83279000C= | CA1472713044 | COQ2 | c.518G= (p.Arg173=) c.368G= (p.Arg123=) c.59G= (p.Arg20=) n.280G= c.164G= (p.Arg55=) n.677G= n.693G= n.399G= | |
| 4 | g.83279000C>G | CA357230518 | COQ2 | c.518G>C (p.Arg173Pro) c.368G>C (p.Arg123Pro) c.59G>C (p.Arg20Pro) n.280G>C c.164G>C (p.Arg55Pro) n.677G>C n.693G>C n.399G>C | |
| 4 | g.83279000C>T | CA2988623 | COQ2 | c.518G>A (p.Arg173His) c.368G>A (p.Arg123His) c.59G>A (p.Arg20His) n.280G>A c.164G>A (p.Arg55His) n.677G>A n.693G>A n.399G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.83279001G>A | CA2988624 | COQ2 | c.517C>T (p.Arg173Cys) c.367C>T (p.Arg123Cys) c.58C>T (p.Arg20Cys) n.279C>T c.163C>T (p.Arg55Cys) n.676C>T n.692C>T n.398C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.83279001G>C | CA357230519 | COQ2 | c.517C>G (p.Arg173Gly) c.367C>G (p.Arg123Gly) c.58C>G (p.Arg20Gly) n.279C>G c.163C>G (p.Arg55Gly) n.676C>G n.692C>G n.398C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.83279001G= | CA1472713045 | COQ2 | c.517C= (p.Arg173=) c.367C= (p.Arg123=) c.58C= (p.Arg20=) n.279C= c.163C= (p.Arg55=) n.676C= n.692C= n.398C= | |
| 4 | g.83279001G>T | CA357230520 | COQ2 | c.517C>A (p.Arg173Ser) c.367C>A (p.Arg123Ser) c.58C>A (p.Arg20Ser) n.279C>A c.163C>A (p.Arg55Ser) n.676C>A n.692C>A n.398C>A | gnomAD v4 COSMIC |
| 4 | g.83279002C>A | CA357230521 | COQ2 | c.516G>T (p.Met172Ile) c.366G>T (p.Met122Ile) c.57G>T (p.Met19Ile) n.278G>T c.162G>T (p.Met54Ile) n.675G>T n.691G>T n.397G>T | COSMIC |
| 4 | g.83279002C>G | CA357230523 | COQ2 | c.516G>C (p.Met172Ile) c.366G>C (p.Met122Ile) c.57G>C (p.Met19Ile) n.278G>C c.162G>C (p.Met54Ile) n.675G>C n.691G>C n.397G>C | |
| 4 | g.83279002C>T | CA357230522 | COQ2 | c.516G>A (p.Met172Ile) c.366G>A (p.Met122Ile) c.57G>A (p.Met19Ile) n.278G>A c.162G>A (p.Met54Ile) n.675G>A n.691G>A n.397G>A | |
| 4 | g.83279003A>C | CA357230524 | COQ2 | c.515T>G (p.Met172Arg) c.365T>G (p.Met122Arg) c.56T>G (p.Met19Arg) n.277T>G c.161T>G (p.Met54Arg) n.674T>G n.690T>G n.396T>G | |
| 4 | g.83279003A>G | CA357230525 | COQ2 | c.515T>C (p.Met172Thr) c.365T>C (p.Met122Thr) c.56T>C (p.Met19Thr) n.277T>C c.161T>C (p.Met54Thr) n.674T>C n.690T>C n.396T>C | |
| 4 | g.83279003A>T | CA357230526 | COQ2 | c.515T>A (p.Met172Lys) c.365T>A (p.Met122Lys) c.56T>A (p.Met19Lys) n.277T>A c.161T>A (p.Met54Lys) n.674T>A n.690T>A n.396T>A | |
| 4 | g.83279004T>A | CA357230527 | COQ2 | c.514A>T (p.Met172Leu) c.364A>T (p.Met122Leu) c.55A>T (p.Met19Leu) n.276A>T c.160A>T (p.Met54Leu) n.673A>T n.689A>T n.395A>T | |
| 4 | g.83279004T>C | CA357230528 | COQ2 | c.514A>G (p.Met172Val) c.364A>G (p.Met122Val) c.55A>G (p.Met19Val) n.276A>G c.160A>G (p.Met54Val) n.673A>G n.689A>G n.395A>G | gnomAD v4 |
| 4 | g.83279004T>G | CA357230529 | COQ2 | c.514A>C (p.Met172Leu) c.364A>C (p.Met122Leu) c.55A>C (p.Met19Leu) n.276A>C c.160A>C (p.Met54Leu) n.673A>C n.689A>C n.395A>C | |
| 4 | g.83279005C>A | CA440108603 | COQ2 | c.513G>T (p.Leu171=) c.363G>T (p.Leu121=) c.54G>T (p.Leu18=) n.275G>T c.159G>T (p.Leu53=) n.672G>T n.688G>T n.394G>T | |
| 4 | g.83279005C>G | CA440108605 | COQ2 | c.513G>C (p.Leu171=) c.363G>C (p.Leu121=) c.54G>C (p.Leu18=) n.275G>C c.159G>C (p.Leu53=) n.672G>C n.688G>C n.394G>C | gnomAD v4 |
| 4 | g.83279005C>T | CA440108607 | COQ2 | c.513G>A (p.Leu171=) c.363G>A (p.Leu121=) c.54G>A (p.Leu18=) n.275G>A c.159G>A (p.Leu53=) n.672G>A n.688G>A n.394G>A | |
| 4 | g.83279006A>C | CA357230530 | COQ2 | c.512T>G (p.Leu171Arg) c.362T>G (p.Leu121Arg) c.53T>G (p.Leu18Arg) n.274T>G c.158T>G (p.Leu53Arg) n.671T>G n.687T>G n.393T>G |