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 |
|---|---|---|---|---|---|
| 1 | g.236482303C>A | CA345353481 | EDARADD | c.302C>A (p.Thr101Asn) c.272C>A (p.Thr91Asn) c.236C>A (p.Thr79Asn) c.236-9434C>A (n.236-9434C>A) | |
| 1 | g.236482303C= | CA2486933359 | EDARADD | c.302C= (p.Thr101=) c.272C= (p.Thr91=) c.236C= (p.Thr79=) c.236-9434C= (n.236-9434C=) | |
| 1 | g.236482303C>G | CA345353480 | EDARADD | c.302C>G (p.Thr101Ser) c.272C>G (p.Thr91Ser) c.236C>G (p.Thr79Ser) c.236-9434C>G (n.236-9434C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236482303C>T | CA10610438 | EDARADD | c.302C>T (p.Thr101Ile) c.272C>T (p.Thr91Ile) c.236C>T (p.Thr79Ile) c.236-9434C>T (n.236-9434C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.236482304T>A | CA424029805 | EDARADD | c.303T>A (p.Thr101=) c.273T>A (p.Thr91=) c.237T>A (p.Thr79=) c.236-9433T>A (n.236-9433T>A) | |
| 1 | g.236482304T>C | CA424029807 | EDARADD | c.303T>C (p.Thr101=) c.273T>C (p.Thr91=) c.237T>C (p.Thr79=) c.236-9433T>C (n.236-9433T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236482304T>G | CA424029809 | EDARADD | c.303T>G (p.Thr101=) c.273T>G (p.Thr91=) c.237T>G (p.Thr79=) c.236-9433T>G (n.236-9433T>G) | dbSNP |
| 1 | g.236482304T= | CA2486933360 | EDARADD | c.303T= (p.Thr101=) c.273T= (p.Thr91=) c.237T= (p.Thr79=) c.236-9433T= (n.236-9433T=) | |
| 1 | g.236482305T>A | CA345353482 | EDARADD | c.304T>A (p.Cys102Ser) c.274T>A (p.Cys92Ser) c.238T>A (p.Cys80Ser) c.236-9432T>A (n.236-9432T>A) | |
| 1 | g.236482305T>C | CA345353483 | EDARADD | c.304T>C (p.Cys102Arg) c.274T>C (p.Cys92Arg) c.238T>C (p.Cys80Arg) c.236-9432T>C (n.236-9432T>C) | |
| 1 | g.236482305T>G | CA345353484 | EDARADD | c.304T>G (p.Cys102Gly) c.274T>G (p.Cys92Gly) c.238T>G (p.Cys80Gly) c.236-9432T>G (n.236-9432T>G) | gnomAD v4 |
| 1 | g.236482306G>A | CA345353485 | EDARADD | c.305G>A (p.Cys102Tyr) c.275G>A (p.Cys92Tyr) c.239G>A (p.Cys80Tyr) c.236-9431G>A (n.236-9431G>A) | dbSNP |
| 1 | g.236482306G>C | CA345353486 | EDARADD | c.305G>C (p.Cys102Ser) c.275G>C (p.Cys92Ser) c.239G>C (p.Cys80Ser) c.236-9431G>C (n.236-9431G>C) | |
| 1 | g.236482306G= | CA2486933361 | EDARADD | c.305G= (p.Cys102=) c.275G= (p.Cys92=) c.239G= (p.Cys80=) c.236-9431G= (n.236-9431G=) | |
| 1 | g.236482306G>T | CA345353487 | EDARADD | c.305G>T (p.Cys102Phe) c.275G>T (p.Cys92Phe) c.239G>T (p.Cys80Phe) c.236-9431G>T (n.236-9431G>T) | |
| 1 | g.236482307T>A | CA345353488 | EDARADD | c.306T>A (p.Cys102Ter) c.276T>A (p.Cys92Ter) c.240T>A (p.Cys80Ter) c.236-9430T>A (n.236-9430T>A) | |
| 1 | g.236482307T>C | CA424029792 | EDARADD | c.306T>C (p.Cys102=) c.276T>C (p.Cys92=) c.240T>C (p.Cys80=) c.236-9430T>C (n.236-9430T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236482307T>G | CA345353489 | EDARADD | c.306T>G (p.Cys102Trp) c.276T>G (p.Cys92Trp) c.240T>G (p.Cys80Trp) c.236-9430T>G (n.236-9430T>G) | |
| 1 | g.236482307T= | CA2486933362 | EDARADD | c.306T= (p.Cys102=) c.276T= (p.Cys92=) c.240T= (p.Cys80=) c.236-9430T= (n.236-9430T=) | |
| 1 | g.236482308T>A | CA345353490 | EDARADD | c.307T>A (p.Ser103Thr) c.277T>A (p.Ser93Thr) c.241T>A (p.Ser81Thr) c.236-9429T>A (n.236-9429T>A) | |
| 1 | g.236482308T>C | CA345353491 | EDARADD | c.307T>C (p.Ser103Pro) c.277T>C (p.Ser93Pro) c.241T>C (p.Ser81Pro) c.236-9429T>C (n.236-9429T>C) | |
| 1 | g.236482308T>G | CA345353492 | EDARADD | c.307T>G (p.Ser103Ala) c.277T>G (p.Ser93Ala) c.241T>G (p.Ser81Ala) c.236-9429T>G (n.236-9429T>G) | |
| 1 | g.236482309C>A | CA345353494 | EDARADD | c.308C>A (p.Ser103Tyr) c.278C>A (p.Ser93Tyr) c.242C>A (p.Ser81Tyr) c.236-9428C>A (n.236-9428C>A) | |
| 1 | g.236482309C= | CA1141414357 | EDARADD | c.308C= (p.Ser103=) c.278C= (p.Ser93=) c.242C= (p.Ser81=) c.236-9428C= (n.236-9428C=) | |
| 1 | g.236482309C>G | CA345353493 | EDARADD | c.308C>G (p.Ser103Cys) c.278C>G (p.Ser93Cys) c.242C>G (p.Ser81Cys) c.236-9428C>G (n.236-9428C>G) | |
| 1 | g.236482309C>T | CA1470064 | EDARADD | c.308C>T (p.Ser103Phe) c.278C>T (p.Ser93Phe) c.242C>T (p.Ser81Phe) c.236-9428C>T (n.236-9428C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236482310C>A | CA424029794 | EDARADD | c.309C>A (p.Ser103=) c.279C>A (p.Ser93=) c.243C>A (p.Ser81=) c.236-9427C>A (n.236-9427C>A) | |
| 1 | g.236482310C>G | CA424029795 | EDARADD | c.309C>G (p.Ser103=) c.279C>G (p.Ser93=) c.243C>G (p.Ser81=) c.236-9427C>G (n.236-9427C>G) | |
| 1 | g.236482310C>T | CA424029796 | EDARADD | c.309C>T (p.Ser103=) c.279C>T (p.Ser93=) c.243C>T (p.Ser81=) c.236-9427C>T (n.236-9427C>T) | dbSNP gnomAD v4 |
| 1 | g.236482311T>A | CA39701897 | EDARADD | c.310T>A (p.Ser104Thr) c.280T>A (p.Ser94Thr) c.244T>A (p.Ser82Thr) c.236-9426T>A (n.236-9426T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236482311T>C | CA345353495 | EDARADD | c.310T>C (p.Ser104Pro) c.280T>C (p.Ser94Pro) c.244T>C (p.Ser82Pro) c.236-9426T>C (n.236-9426T>C) | |
| 1 | g.236482311T>G | CA345353496 | EDARADD | c.310T>G (p.Ser104Ala) c.280T>G (p.Ser94Ala) c.244T>G (p.Ser82Ala) c.236-9426T>G (n.236-9426T>G) | |
| 1 | g.236482311T= | CA2486933363 | EDARADD | c.310T= (p.Ser104=) c.280T= (p.Ser94=) c.244T= (p.Ser82=) c.236-9426T= (n.236-9426T=) | |
| 1 | g.236482312C>A | CA345353497 | EDARADD | c.311C>A (p.Ser104Tyr) c.281C>A (p.Ser94Tyr) c.245C>A (p.Ser82Tyr) c.236-9425C>A (n.236-9425C>A) | |
| 1 | g.236482312C= | CA2486933364 | EDARADD | c.311C= (p.Ser104=) c.281C= (p.Ser94=) c.245C= (p.Ser82=) c.236-9425C= (n.236-9425C=) | |
| 1 | g.236482312C>G | CA345353498 | EDARADD | c.311C>G (p.Ser104Cys) c.281C>G (p.Ser94Cys) c.245C>G (p.Ser82Cys) c.236-9425C>G (n.236-9425C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.236482312C>T | CA345353499 | EDARADD | c.311C>T (p.Ser104Phe) c.281C>T (p.Ser94Phe) c.245C>T (p.Ser82Phe) c.236-9425C>T (n.236-9425C>T) | gnomAD v4 |
| 1 | g.236482313C>A | CA424029797 | EDARADD | c.312C>A (p.Ser104=) c.282C>A (p.Ser94=) c.246C>A (p.Ser82=) c.236-9424C>A (n.236-9424C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.236482313C= | CA2486933365 | EDARADD | c.312C= (p.Ser104=) c.282C= (p.Ser94=) c.246C= (p.Ser82=) c.236-9424C= (n.236-9424C=) | |
| 1 | g.236482313C>G | CA424029798 | EDARADD | c.312C>G (p.Ser104=) c.282C>G (p.Ser94=) c.246C>G (p.Ser82=) c.236-9424C>G (n.236-9424C>G) | |
| 1 | g.236482313C>T | CA424029799 | EDARADD | c.312C>T (p.Ser104=) c.282C>T (p.Ser94=) c.246C>T (p.Ser82=) c.236-9424C>T (n.236-9424C>T) | |
| 1 | g.236482314T>A | CA345353500 | EDARADD | c.313T>A (p.Cys105Ser) c.283T>A (p.Cys95Ser) c.247T>A (p.Cys83Ser) c.236-9423T>A (n.236-9423T>A) | |
| 1 | g.236482314T>C | CA345353501 | EDARADD | c.313T>C (p.Cys105Arg) c.283T>C (p.Cys95Arg) c.247T>C (p.Cys83Arg) c.236-9423T>C (n.236-9423T>C) | |
| 1 | g.236482314T>G | CA345353502 | EDARADD | c.313T>G (p.Cys105Gly) c.283T>G (p.Cys95Gly) c.247T>G (p.Cys83Gly) c.236-9423T>G (n.236-9423T>G) | |
| 1 | g.236482315G>A | CA345353503 | EDARADD | c.314G>A (p.Cys105Tyr) c.284G>A (p.Cys95Tyr) c.248G>A (p.Cys83Tyr) c.236-9422G>A (n.236-9422G>A) | |
| 1 | g.236482315G>C | CA345353504 | EDARADD | c.314G>C (p.Cys105Ser) c.284G>C (p.Cys95Ser) c.248G>C (p.Cys83Ser) c.236-9422G>C (n.236-9422G>C) | |
| 1 | g.236482315G>T | CA345353505 | EDARADD | c.314G>T (p.Cys105Phe) c.284G>T (p.Cys95Phe) c.248G>T (p.Cys83Phe) c.236-9422G>T (n.236-9422G>T) | |
| 1 | g.236482316C>A | CA345353506 | EDARADD | c.315C>A (p.Cys105Ter) c.285C>A (p.Cys95Ter) c.249C>A (p.Cys83Ter) c.236-9421C>A (n.236-9421C>A) | |
| 1 | g.236482316C>G | CA345353507 | EDARADD | c.315C>G (p.Cys105Trp) c.285C>G (p.Cys95Trp) c.249C>G (p.Cys83Trp) c.236-9421C>G (n.236-9421C>G) | |
| 1 | g.236482316C>T | CA424029801 | EDARADD | c.315C>T (p.Cys105=) c.285C>T (p.Cys95=) c.249C>T (p.Cys83=) c.236-9421C>T (n.236-9421C>T) |