UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128840064G>A | CA6357557 | KCNJ1 | c.180C>T (p.Tyr60=) c.237C>T (p.Tyr79=) n.525C>T c.231C>T (p.Tyr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128840064G>C | CA120150 | KCNJ1 | c.180C>G (p.Tyr60Ter) c.237C>G (p.Tyr79Ter) n.525C>G c.231C>G (p.Tyr77Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.128840064G= | CA2008251664 | KCNJ1 | c.180C= (p.Tyr60=) c.237C= (p.Tyr79=) n.525C= c.231C= (p.Tyr77=) | |
| 11 | g.128840064G>T | CA383246902 | KCNJ1 | c.180C>A (p.Tyr60Ter) c.237C>A (p.Tyr79Ter) n.525C>A c.231C>A (p.Tyr77Ter) | |
| 11 | g.128840065T>A | CA383246906 | KCNJ1 | c.179A>T (p.Tyr60Phe) c.236A>T (p.Tyr79Phe) n.524A>T c.230A>T (p.Tyr77Phe) | gnomAD v4 |
| 11 | g.128840065T>C | CA383246908 | KCNJ1 | c.179A>G (p.Tyr60Cys) c.236A>G (p.Tyr79Cys) n.524A>G c.230A>G (p.Tyr77Cys) | dbSNP gnomAD v4 |
| 11 | g.128840065T>G | CA383246910 | KCNJ1 | c.179A>C (p.Tyr60Ser) c.236A>C (p.Tyr79Ser) n.524A>C c.230A>C (p.Tyr77Ser) | |
| 11 | g.128840065T= | CA2008251671 | KCNJ1 | c.179A= (p.Tyr60=) c.236A= (p.Tyr79=) n.524A= c.230A= (p.Tyr77=) | |
| 11 | g.128840066A= | CA2008251674 | KCNJ1 | c.178T= (p.Tyr60=) c.235T= (p.Tyr79=) n.523T= c.229T= (p.Tyr77=) | |
| 11 | g.128840066A>C | CA383246913 | KCNJ1 | c.178T>G (p.Tyr60Asp) c.235T>G (p.Tyr79Asp) n.523T>G c.229T>G (p.Tyr77Asp) | |
| 11 | g.128840066A>G | CA383246915 | KCNJ1 | c.178T>C (p.Tyr60His) c.235T>C (p.Tyr79His) n.523T>C c.229T>C (p.Tyr77His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128840066A>T | CA383246917 | KCNJ1 | c.178T>A (p.Tyr60Asn) c.235T>A (p.Tyr79Asn) n.523T>A c.229T>A (p.Tyr77Asn) | |
| 11 | g.128840067T>A | CA383246922 | KCNJ1 | c.177A>T (p.Arg59Ser) c.234A>T (p.Arg78Ser) n.522A>T c.228A>T (p.Arg76Ser) | |
| 11 | g.128840067T>C | CA477703307 | KCNJ1 | c.177A>G (p.Arg59=) c.234A>G (p.Arg78=) n.522A>G c.228A>G (p.Arg76=) | |
| 11 | g.128840067T>G | CA383246924 | KCNJ1 | c.177A>C (p.Arg59Ser) c.234A>C (p.Arg78Ser) n.522A>C c.228A>C (p.Arg76Ser) | COSMIC |
| 11 | g.128840068C>A | CA383246927 | KCNJ1 | c.176G>T (p.Arg59Ile) c.233G>T (p.Arg78Ile) n.521G>T c.227G>T (p.Arg76Ile) | |
| 11 | g.128840068C>G | CA383246929 | KCNJ1 | c.176G>C (p.Arg59Thr) c.233G>C (p.Arg78Thr) n.521G>C c.227G>C (p.Arg76Thr) | |
| 11 | g.128840068C>T | CA383246931 | KCNJ1 | c.176G>A (p.Arg59Lys) c.233G>A (p.Arg78Lys) n.521G>A c.227G>A (p.Arg76Lys) | |
| 11 | g.128840069del | CA2616771387 | KCNJ1 | c.175del (p.Arg59AspfsTer4) c.232del (p.Arg78AspfsTer4) n.520del c.226del (p.Arg76AspfsTer4) | gnomAD v4 |
| 11 | g.128840069T>A | CA383246935 | KCNJ1 | c.175A>T (p.Arg59Ter) c.232A>T (p.Arg78Ter) n.520A>T c.226A>T (p.Arg76Ter) | |
| 11 | g.128840069T>C | CA383246938 | KCNJ1 | c.175A>G (p.Arg59Gly) c.232A>G (p.Arg78Gly) n.520A>G c.226A>G (p.Arg76Gly) | |
| 11 | g.128840069T>G | CA477703310 | KCNJ1 | c.175A>C (p.Arg59=) c.232A>C (p.Arg78=) n.520A>C c.226A>C (p.Arg76=) | |
| 11 | g.128840070C>A | CA383246941 | KCNJ1 | c.174G>T (p.Trp58Cys) c.231G>T (p.Trp77Cys) n.519G>T c.225G>T (p.Trp75Cys) | |
| 11 | g.128840070C>G | CA383246947 | KCNJ1 | c.174G>C (p.Trp58Cys) c.231G>C (p.Trp77Cys) n.519G>C c.225G>C (p.Trp75Cys) | |
| 11 | g.128840070C>T | CA383246942 | KCNJ1 | c.174G>A (p.Trp58Ter) c.231G>A (p.Trp77Ter) n.519G>A c.225G>A (p.Trp75Ter) | ClinVar |
| 11 | g.128840071C>A | CA383246948 | KCNJ1 | c.173G>T (p.Trp58Leu) c.230G>T (p.Trp77Leu) n.518G>T c.224G>T (p.Trp75Leu) | |
| 11 | g.128840071C= | CA2008251677 | KCNJ1 | c.173G= (p.Trp58=) c.230G= (p.Trp77=) n.518G= c.224G= (p.Trp75=) | |
| 11 | g.128840071C>G | CA383246949 | KCNJ1 | c.173G>C (p.Trp58Ser) c.230G>C (p.Trp77Ser) n.518G>C c.224G>C (p.Trp75Ser) | |
| 11 | g.128840071C>T | CA383246950 | KCNJ1 | c.173G>A (p.Trp58Ter) c.230G>A (p.Trp77Ter) n.518G>A c.224G>A (p.Trp75Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128840072A>C | CA383246951 | KCNJ1 | c.172T>G (p.Trp58Gly) c.229T>G (p.Trp77Gly) n.517T>G c.223T>G (p.Trp75Gly) | |
| 11 | g.128840072A>G | CA383246952 | KCNJ1 | c.172T>C (p.Trp58Arg) c.229T>C (p.Trp77Arg) n.517T>C c.223T>C (p.Trp75Arg) | gnomAD v4 |
| 11 | g.128840072A>T | CA383246953 | KCNJ1 | c.172T>A (p.Trp58Arg) c.229T>A (p.Trp77Arg) n.517T>A c.223T>A (p.Trp75Arg) | |
| 11 | g.128840073C>A | CA383246954 | KCNJ1 | c.171G>T (p.Lys57Asn) c.228G>T (p.Lys76Asn) n.516G>T c.222G>T (p.Lys74Asn) | |
| 11 | g.128840073C= | CA2008251682 | KCNJ1 | c.171G= (p.Lys57=) c.228G= (p.Lys76=) n.516G= c.222G= (p.Lys74=) | |
| 11 | g.128840073C>G | CA383246956 | KCNJ1 | c.171G>C (p.Lys57Asn) c.228G>C (p.Lys76Asn) n.516G>C c.222G>C (p.Lys74Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128840073C>T | CA6357558 | KCNJ1 | c.171G>A (p.Lys57=) c.228G>A (p.Lys76=) n.516G>A c.222G>A (p.Lys74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128840074T>A | CA383246960 | KCNJ1 | c.170A>T (p.Lys57Met) c.227A>T (p.Lys76Met) n.515A>T c.221A>T (p.Lys74Met) | |
| 11 | g.128840074T>C | CA383246962 | KCNJ1 | c.170A>G (p.Lys57Arg) c.227A>G (p.Lys76Arg) n.515A>G c.221A>G (p.Lys74Arg) | COSMIC |
| 11 | g.128840074T>G | CA383246965 | KCNJ1 | c.170A>C (p.Lys57Thr) c.227A>C (p.Lys76Thr) n.515A>C c.221A>C (p.Lys74Thr) | |
| 11 | g.128840075T>A | CA383246973 | KCNJ1 | c.169A>T (p.Lys57Ter) c.226A>T (p.Lys76Ter) n.514A>T c.220A>T (p.Lys74Ter) | |
| 11 | g.128840075T>C | CA383246970 | KCNJ1 | c.169A>G (p.Lys57Glu) c.226A>G (p.Lys76Glu) n.514A>G c.220A>G (p.Lys74Glu) | dbSNP gnomAD v4 |
| 11 | g.128840075T>G | CA383246967 | KCNJ1 | c.169A>C (p.Lys57Gln) c.226A>C (p.Lys76Gln) n.514A>C c.220A>C (p.Lys74Gln) | gnomAD v4 |
| 11 | g.128840075T= | CA2008251686 | KCNJ1 | c.169A= (p.Lys57=) c.226A= (p.Lys76=) n.514A= c.220A= (p.Lys74=) | |
| 11 | g.128840076G>A | CA6357559 | KCNJ1 | c.168C>T (p.Leu56=) c.225C>T (p.Leu75=) n.513C>T c.219C>T (p.Leu73=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128840076G>C | CA477703320 | KCNJ1 | c.168C>G (p.Leu56=) c.225C>G (p.Leu75=) n.513C>G c.219C>G (p.Leu73=) | COSMIC |
| 11 | g.128840076G= | CA2008251696 | KCNJ1 | c.168C= (p.Leu56=) c.225C= (p.Leu75=) n.513C= c.219C= (p.Leu73=) | |
| 11 | g.128840076G>T | CA477703321 | KCNJ1 | c.168C>A (p.Leu56=) c.225C>A (p.Leu75=) n.513C>A c.219C>A (p.Leu73=) | |
| 11 | g.128840077A>C | CA383246978 | KCNJ1 | c.167T>G (p.Leu56Arg) c.224T>G (p.Leu75Arg) n.512T>G c.218T>G (p.Leu73Arg) | |
| 11 | g.128840077A>G | CA383246980 | KCNJ1 | c.167T>C (p.Leu56Pro) c.224T>C (p.Leu75Pro) n.512T>C c.218T>C (p.Leu73Pro) | |
| 11 | g.128840077A>T | CA383246983 | KCNJ1 | c.167T>A (p.Leu56His) c.224T>A (p.Leu75His) n.512T>A c.218T>A (p.Leu73His) |