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 |
|---|---|---|---|---|---|
| Y | g.20756780C>A | CA520175326 | RPS4Y2 | c.6C>A (p.Ala2=) | |
| Y | g.20756780C>G | CA520175327 | RPS4Y2 | c.6C>G (p.Ala2=) | |
| Y | g.20756780C>T | CA520175329 | RPS4Y2 | c.6C>T (p.Ala2=) | |
| Y | g.20756781C>A | CA520175331 | RPS4Y2 | c.7C>A (p.Arg3=) | |
| Y | g.20756781C>G | CA414857743 | RPS4Y2 | c.7C>G (p.Arg3Gly) | |
| Y | g.20756781C>T | CA414857744 | RPS4Y2 | c.7C>T (p.Arg3Trp) | |
| Y | g.20756782G>A | CA414857745 | RPS4Y2 | c.8G>A (p.Arg3Gln) | dbSNP gnomAD v2 COSMIC |
| Y | g.20756782G>C | CA414857747 | RPS4Y2 | c.8G>C (p.Arg3Pro) | |
| Y | g.20756782G= | CA2471054284 | RPS4Y2 | c.8G= (p.Arg3=) | |
| Y | g.20756782G>T | CA414857746 | RPS4Y2 | c.8G>T (p.Arg3Leu) | |
| Y | g.20756783G>A | CA520175341 | RPS4Y2 | c.9G>A (p.Arg3=) | |
| Y | g.20756783G>C | CA520175340 | RPS4Y2 | c.9G>C (p.Arg3=) | |
| Y | g.20756783G>T | CA520175339 | RPS4Y2 | c.9G>T (p.Arg3=) | |
| Y | g.20756784G>A | CA414857748 | RPS4Y2 | c.10G>A (p.Gly4Ser) | |
| Y | g.20756784G>C | CA414857750 | RPS4Y2 | c.10G>C (p.Gly4Arg) | |
| Y | g.20756784G>T | CA414857749 | RPS4Y2 | c.10G>T (p.Gly4Cys) | |
| Y | g.20756785G>A | CA414857751 | RPS4Y2 | c.11G>A (p.Gly4Asp) | |
| Y | g.20756785G>C | CA414857752 | RPS4Y2 | c.11G>C (p.Gly4Ala) | |
| Y | g.20756785G>T | CA414857753 | RPS4Y2 | c.11G>T (p.Gly4Val) | |
| Y | g.20756786C>A | CA520175353 | RPS4Y2 | c.12C>A (p.Gly4=) | |
| Y | g.20756786C>G | CA520175351 | RPS4Y2 | c.12C>G (p.Gly4=) | |
| Y | g.20756786C>T | CA520175349 | RPS4Y2 | c.12C>T (p.Gly4=) | |
| Y | g.20756787C>A | CA414857754 | RPS4Y2 | c.13C>A (p.Pro5Thr) | |
| Y | g.20756787C>G | CA414857755 | RPS4Y2 | c.13C>G (p.Pro5Ala) | |
| Y | g.20756787C>T | CA414857756 | RPS4Y2 | c.13C>T (p.Pro5Ser) | |
| Y | g.20756788C>A | CA414857757 | RPS4Y2 | c.14C>A (p.Pro5His) | |
| Y | g.20756788C>G | CA414857758 | RPS4Y2 | c.14C>G (p.Pro5Arg) | COSMIC |
| Y | g.20756788C>T | CA414857759 | RPS4Y2 | c.14C>T (p.Pro5Leu) | |
| Y | g.20756789C>A | CA520175365 | RPS4Y2 | c.15C>A (p.Pro5=) | |
| Y | g.20756789C>G | CA520175368 | RPS4Y2 | c.15C>G (p.Pro5=) | |
| Y | g.20756789C>T | CA520175366 | RPS4Y2 | c.15C>T (p.Pro5=) | |
| Y | g.20756790A>C | CA414857762 | RPS4Y2 | c.16A>C (p.Lys6Gln) | |
| Y | g.20756790A>G | CA414857760 | RPS4Y2 | c.16A>G (p.Lys6Glu) | |
| Y | g.20756790A>T | CA414857761 | RPS4Y2 | c.16A>T (p.Lys6Ter) | |
| Y | g.20756791A>C | CA414857764 | RPS4Y2 | c.17A>C (p.Lys6Thr) | |
| Y | g.20756791A>G | CA414857766 | RPS4Y2 | c.17A>G (p.Lys6Arg) | dbSNP |
| Y | g.20756791A>T | CA414857768 | RPS4Y2 | c.17A>T (p.Lys6Met) | |
| Y | g.20756792G>A | CA520175380 | RPS4Y2 | c.18G>A (p.Lys6=) | |
| Y | g.20756792G>C | CA414857770 | RPS4Y2 | c.18G>C (p.Lys6Asn) | |
| Y | g.20756792G>T | CA414857772 | RPS4Y2 | c.18G>T (p.Lys6Asn) | |
| Y | g.20756793A>C | CA414857774 | RPS4Y2 | c.19A>C (p.Lys7Gln) c.-202A>C (n.-202A>C) | |
| Y | g.20756793A>G | CA414857776 | RPS4Y2 | c.19A>G (p.Lys7Glu) c.-202A>G (n.-202A>G) | |
| Y | g.20756793A>T | CA414857778 | RPS4Y2 | c.19A>T (p.Lys7Ter) c.-202A>T (n.-202A>T) | |
| Y | g.20756794A= | CA2471054285 | RPS4Y2 | c.20A= (p.Lys7=) c.-201A= (n.-201A=) | |
| Y | g.20756794A>C | CA10575171 | RPS4Y2 | c.20A>C (p.Lys7Thr) c.-201A>C (n.-201A>C) | dbSNP ExAC gnomAD v2 |
| Y | g.20756794A>G | CA414857784 | RPS4Y2 | c.20A>G (p.Lys7Arg) c.-201A>G (n.-201A>G) | |
| Y | g.20756794A>T | CA414857781 | RPS4Y2 | c.20A>T (p.Lys7Met) c.-201A>T (n.-201A>T) | |
| Y | g.20756795G>A | CA337511046 | RPS4Y2 | c.21G>A (p.Lys7=) c.-200G>A (n.-200G>A) | dbSNP |
| Y | g.20756795G>C | CA414857786 | RPS4Y2 | c.21G>C (p.Lys7Asn) c.-200G>C (n.-200G>C) | |
| Y | g.20756795G= | CA2471054286 | RPS4Y2 | c.21G= (p.Lys7=) c.-200G= (n.-200G=) |