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.20759807A>C | CA923789776 | RPS4Y2 | c.82-61A>C (n.82-61A>C) c.31-61A>C (n.31-61A>C) | |
| Y | g.20759809T>C | CA2766256503 | RPS4Y2 | c.82-59T>C (n.82-59T>C) c.31-59T>C (n.31-59T>C) | |
| Y | g.20759810C>G | CA2766256504 | RPS4Y2 | c.82-58C>G (n.82-58C>G) c.31-58C>G (n.31-58C>G) | |
| Y | g.20759810C>T | CA2766256505 | RPS4Y2 | c.82-58C>T (n.82-58C>T) c.31-58C>T (n.31-58C>T) | |
| Y | g.20759811T>C | CA337511148 | RPS4Y2 | c.82-57T>C (n.82-57T>C) c.31-57T>C (n.31-57T>C) | dbSNP |
| Y | g.20759811T= | CA2471054479 | RPS4Y2 | c.82-57T= (n.82-57T=) c.31-57T= (n.31-57T=) | |
| Y | g.20759812G>A | CA2766256506 | RPS4Y2 | c.82-56G>A (n.82-56G>A) c.31-56G>A (n.31-56G>A) | |
| Y | g.20759813G>A | CA2766256507 | RPS4Y2 | c.82-55G>A (n.82-55G>A) c.31-55G>A (n.31-55G>A) | |
| Y | g.20759813G>C | CA2766256508 | RPS4Y2 | c.82-55G>C (n.82-55G>C) c.31-55G>C (n.31-55G>C) | |
| Y | g.20759816A>T | CA2579749852 | RPS4Y2 | c.82-52A>T (n.82-52A>T) c.31-52A>T (n.31-52A>T) | |
| Y | g.20759817T>G | CA645235425 | RPS4Y2 | c.82-51T>G (n.82-51T>G) c.31-51T>G (n.31-51T>G) | dbSNP gnomAD v2 |
| Y | g.20759817T= | CA2471054480 | RPS4Y2 | c.82-51T= (n.82-51T=) c.31-51T= (n.31-51T=) | |
| Y | g.20759820A= | CA2471054481 | RPS4Y2 | c.82-48A= (n.82-48A=) c.31-48A= (n.31-48A=) | |
| Y | g.20759820A>G | CA10575176 | RPS4Y2 | c.82-48A>G (n.82-48A>G) c.31-48A>G (n.31-48A>G) | dbSNP ExAC gnomAD v2 |
| Y | g.20759821_20759822delinsAG | CA2471054482 | RPS4Y2 | c.82-47_82-46delinsAG (n.82-47_82-46delinsAG) c.31-47_31-46delinsAG (n.31-47_31-46delinsAG) | |
| Y | g.20759822G= | CA2471054483 | RPS4Y2 | c.82-46G= (n.82-46G=) c.31-46G= (n.31-46G=) | |
| Y | g.20759822G>T | CA10575178 | RPS4Y2 | c.82-46G>T (n.82-46G>T) c.31-46G>T (n.31-46G>T) | dbSNP ExAC gnomAD v2 |
| Y | g.20759825del | CA10575177 | RPS4Y2 | c.82-43del (n.82-43del) c.31-43del (n.31-43del) | dbSNP ExAC gnomAD v2 |
| Y | g.20759826C= | CA2471054484 | RPS4Y2 | c.82-42C= (n.82-42C=) c.31-42C= (n.31-42C=) | |
| Y | g.20759826C>T | CA10575179 | RPS4Y2 | c.82-42C>T (n.82-42C>T) c.31-42C>T (n.31-42C>T) | dbSNP ExAC gnomAD v2 |
| Y | g.20759827G>A | CA10575180 | RPS4Y2 | c.82-41G>A (n.82-41G>A) c.31-41G>A (n.31-41G>A) | dbSNP ExAC gnomAD v2 |
| Y | g.20759827G= | CA2471054485 | RPS4Y2 | c.82-41G= (n.82-41G=) c.31-41G= (n.31-41G=) | |
| Y | g.20759828G>A | CA2766256509 | RPS4Y2 | c.82-40G>A (n.82-40G>A) c.31-40G>A (n.31-40G>A) | |
| Y | g.20759839_20759840delinsAT | CA2471054486 | RPS4Y2 | c.82-29_82-28delinsAT (n.82-29_82-28delinsAT) c.31-29_31-28delinsAT (n.31-29_31-28delinsAT) | |
| Y | g.20759841del | CA10575181 | RPS4Y2 | c.82-27del (n.82-27del) c.31-27del (n.31-27del) | dbSNP ExAC gnomAD v2 |
| Y | g.20759841T>G | CA10575182 | RPS4Y2 | c.82-27T>G (n.82-27T>G) c.31-27T>G (n.31-27T>G) | dbSNP ExAC gnomAD v2 |
| Y | g.20759841T= | CA2471054487 | RPS4Y2 | c.82-27T= (n.82-27T=) c.31-27T= (n.31-27T=) | |
| Y | g.20759842A>G | CA2766256510 | RPS4Y2 | c.82-26A>G (n.82-26A>G) c.31-26A>G (n.31-26A>G) | |
| Y | g.20759849C= | CA2471054488 | RPS4Y2 | c.82-19C= (n.82-19C=) c.31-19C= (n.31-19C=) | |
| Y | g.20759849C>T | CA10575183 | RPS4Y2 | c.82-19C>T (n.82-19C>T) c.31-19C>T (n.31-19C>T) | dbSNP ExAC gnomAD v2 |
| Y | g.20759850del | CA2579749853 | RPS4Y2 | c.82-18del (n.82-18del) c.31-18del (n.31-18del) | |
| Y | g.20759852C>T | CA2766256511 | RPS4Y2 | c.82-16C>T (n.82-16C>T) c.31-16C>T (n.31-16C>T) | |
| Y | g.20759854A>G | CA2766256512 | RPS4Y2 | c.82-14A>G (n.82-14A>G) c.31-14A>G (n.31-14A>G) | |
| Y | g.20759859C>G | CA645614636 | RPS4Y2 | c.82-9C>G (n.82-9C>G) c.31-9C>G (n.31-9C>G) | COSMIC |
| Y | g.20759866A= | CA2471054489 | RPS4Y2 | c.82-2A= (n.82-2A=) c.31-2A= (n.31-2A=) | |
| Y | g.20759866A>C | CA414858139 | RPS4Y2 | c.82-2A>C (n.82-2A>C) c.31-2A>C (n.31-2A>C) | |
| Y | g.20759866A>G | CA414858136 | RPS4Y2 | c.82-2A>G (n.82-2A>G) c.31-2A>G (n.31-2A>G) | dbSNP |
| Y | g.20759866A>T | CA414858138 | RPS4Y2 | c.82-2A>T (n.82-2A>T) c.31-2A>T (n.31-2A>T) | |
| Y | g.20759867G>A | CA414858142 | RPS4Y2 | c.82-1G>A (n.82-1G>A) c.31-1G>A (n.31-1G>A) | |
| Y | g.20759867G>C | CA414858143 | RPS4Y2 | c.82-1G>C (n.82-1G>C) c.31-1G>C (n.31-1G>C) | |
| Y | g.20759867G>T | CA414858144 | RPS4Y2 | c.82-1G>T (n.82-1G>T) c.31-1G>T (n.31-1G>T) | |
| Y | g.20759868G>A | CA414858147 | RPS4Y2 | c.82G>A (p.Ala28Thr) c.31G>A (p.Ala11Thr) | |
| Y | g.20759868G>C | CA414858149 | RPS4Y2 | c.82G>C (p.Ala28Pro) c.31G>C (p.Ala11Pro) | |
| Y | g.20759868G>T | CA414858150 | RPS4Y2 | c.82G>T (p.Ala28Ser) c.31G>T (p.Ala11Ser) | |
| Y | g.20759869C>A | CA414858152 | RPS4Y2 | c.83C>A (p.Ala28Glu) c.32C>A (p.Ala11Glu) | dbSNP gnomAD v2 |
| Y | g.20759869C= | CA2471054490 | RPS4Y2 | c.83C= (p.Ala28=) c.32C= (p.Ala11=) | |
| Y | g.20759869C>G | CA414858154 | RPS4Y2 | c.83C>G (p.Ala28Gly) c.32C>G (p.Ala11Gly) | |
| Y | g.20759869C>T | CA414858156 | RPS4Y2 | c.83C>T (p.Ala28Val) c.32C>T (p.Ala11Val) | |
| Y | g.20759870A>C | CA520176160 | RPS4Y2 | c.84A>C (p.Ala28=) c.33A>C (p.Ala11=) | |
| Y | g.20759870A>G | CA520176162 | RPS4Y2 | c.84A>G (p.Ala28=) c.33A>G (p.Ala11=) | |
| Y | g.20759870A>T | CA520176163 | RPS4Y2 | c.84A>T (p.Ala28=) c.33A>T (p.Ala11=) | |
| Y | g.20759871C>A | CA414858158 | RPS4Y2 | c.85C>A (p.Pro29Thr) c.34C>A (p.Pro12Thr) | |
| Y | g.20759871C>G | CA414858160 | RPS4Y2 | c.85C>G (p.Pro29Ala) c.34C>G (p.Pro12Ala) | |
| Y | g.20759871C>T | CA414858161 | RPS4Y2 | c.85C>T (p.Pro29Ser) c.34C>T (p.Pro12Ser) | |
| Y | g.20759872C>A | CA414858167 | RPS4Y2 | c.86C>A (p.Pro29His) c.35C>A (p.Pro12His) | |
| Y | g.20759872C>G | CA414858165 | RPS4Y2 | c.86C>G (p.Pro29Arg) c.35C>G (p.Pro12Arg) | |
| Y | g.20759872C>T | CA414858163 | RPS4Y2 | c.86C>T (p.Pro29Leu) c.35C>T (p.Pro12Leu) | |
| Y | g.20759873T>A | CA520176182 | RPS4Y2 | c.87T>A (p.Pro29=) c.36T>A (p.Pro12=) | |
| Y | g.20759873T>C | CA520176186 | RPS4Y2 | c.87T>C (p.Pro29=) c.36T>C (p.Pro12=) | |
| Y | g.20759873T>G | CA520176184 | RPS4Y2 | c.87T>G (p.Pro29=) c.36T>G (p.Pro12=) | |
| Y | g.20759874C>A | CA414858169 | RPS4Y2 | c.88C>A (p.Arg30Ser) c.37C>A (p.Arg13Ser) | |
| Y | g.20759874C>G | CA414858172 | RPS4Y2 | c.88C>G (p.Arg30Gly) c.37C>G (p.Arg13Gly) | |
| Y | g.20759874C>T | CA414858171 | RPS4Y2 | c.88C>T (p.Arg30Cys) c.37C>T (p.Arg13Cys) | |
| Y | g.20759875G>A | CA10575184 | RPS4Y2 | c.89G>A (p.Arg30His) c.38G>A (p.Arg13His) | dbSNP ExAC gnomAD v2 COSMIC |
| Y | g.20759875G>C | CA414858177 | RPS4Y2 | c.89G>C (p.Arg30Pro) c.38G>C (p.Arg13Pro) | |
| Y | g.20759875G= | CA2471054491 | RPS4Y2 | c.89G= (p.Arg30=) c.38G= (p.Arg13=) | |
| Y | g.20759875G>T | CA414858175 | RPS4Y2 | c.89G>T (p.Arg30Leu) c.38G>T (p.Arg13Leu) | |
| Y | g.20759876T>A | CA520176193 | RPS4Y2 | c.90T>A (p.Arg30=) c.39T>A (p.Arg13=) | |
| Y | g.20759876T>C | CA520176195 | RPS4Y2 | c.90T>C (p.Arg30=) c.39T>C (p.Arg13=) | |
| Y | g.20759876T>G | CA520176196 | RPS4Y2 | c.90T>G (p.Arg30=) c.39T>G (p.Arg13=) | |
| Y | g.20759877C>A | CA414858179 | RPS4Y2 | c.91C>A (p.Pro31Thr) c.40C>A (p.Pro14Thr) | |
| Y | g.20759877C>G | CA414858183 | RPS4Y2 | c.91C>G (p.Pro31Ala) c.40C>G (p.Pro14Ala) | |
| Y | g.20759877C>T | CA414858181 | RPS4Y2 | c.91C>T (p.Pro31Ser) c.40C>T (p.Pro14Ser) | |
| Y | g.20759878C>A | CA414858184 | RPS4Y2 | c.92C>A (p.Pro31Gln) c.41C>A (p.Pro14Gln) | |
| Y | g.20759878C>G | CA414858186 | RPS4Y2 | c.92C>G (p.Pro31Arg) c.41C>G (p.Pro14Arg) | |
| Y | g.20759878C>T | CA414858188 | RPS4Y2 | c.92C>T (p.Pro31Leu) c.41C>T (p.Pro14Leu) | |
| Y | g.20759879A>C | CA520176204 | RPS4Y2 | c.93A>C (p.Pro31=) c.42A>C (p.Pro14=) | |
| Y | g.20759879A>G | CA520176205 | RPS4Y2 | c.93A>G (p.Pro31=) c.42A>G (p.Pro14=) | |
| Y | g.20759879A>T | CA520176208 | RPS4Y2 | c.93A>T (p.Pro31=) c.42A>T (p.Pro14=) | |
| Y | g.20759880T>A | CA414858190 | RPS4Y2 | c.94T>A (p.Ser32Thr) c.43T>A (p.Ser15Thr) | |
| Y | g.20759880T>C | CA414858192 | RPS4Y2 | c.94T>C (p.Ser32Pro) c.43T>C (p.Ser15Pro) | |
| Y | g.20759880T>G | CA414858194 | RPS4Y2 | c.94T>G (p.Ser32Ala) c.43T>G (p.Ser15Ala) | |
| Y | g.20759881C>A | CA414858196 | RPS4Y2 | c.95C>A (p.Ser32Ter) c.44C>A (p.Ser15Ter) | |
| Y | g.20759881C>G | CA414858198 | RPS4Y2 | c.95C>G (p.Ser32Trp) c.44C>G (p.Ser15Trp) | |
| Y | g.20759881C>T | CA414858200 | RPS4Y2 | c.95C>T (p.Ser32Leu) c.44C>T (p.Ser15Leu) | |
| Y | g.20759882G>A | CA10575185 | RPS4Y2 | c.96G>A (p.Ser32=) c.45G>A (p.Ser15=) | dbSNP ExAC gnomAD v2 |
| Y | g.20759882G>C | CA520176220 | RPS4Y2 | c.96G>C (p.Ser32=) c.45G>C (p.Ser15=) | |
| Y | g.20759882G= | CA2471054492 | RPS4Y2 | c.96G= (p.Ser32=) c.45G= (p.Ser15=) | |
| Y | g.20759882G>T | CA520176222 | RPS4Y2 | c.96G>T (p.Ser32=) c.45G>T (p.Ser15=) | |
| Y | g.20759883A>C | CA414858207 | RPS4Y2 | c.97A>C (p.Thr33Pro) c.46A>C (p.Thr16Pro) | |
| Y | g.20759883A>G | CA414858203 | RPS4Y2 | c.97A>G (p.Thr33Ala) c.46A>G (p.Thr16Ala) | |
| Y | g.20759883A>T | CA414858206 | RPS4Y2 | c.97A>T (p.Thr33Ser) c.46A>T (p.Thr16Ser) | |
| Y | g.20759884C>A | CA414858210 | RPS4Y2 | c.98C>A (p.Thr33Lys) c.47C>A (p.Thr16Lys) | |
| Y | g.20759884C>G | CA414858211 | RPS4Y2 | c.98C>G (p.Thr33Arg) c.47C>G (p.Thr16Arg) | |
| Y | g.20759884C>T | CA414858212 | RPS4Y2 | c.98C>T (p.Thr33Ile) c.47C>T (p.Thr16Ile) | |
| Y | g.20759885A= | CA2471054493 | RPS4Y2 | c.99A= (p.Thr33=) c.48A= (p.Thr16=) | |
| Y | g.20759885A>C | CA520176225 | RPS4Y2 | c.99A>C (p.Thr33=) c.48A>C (p.Thr16=) | |
| Y | g.20759885A>G | CA337511149 | RPS4Y2 | c.99A>G (p.Thr33=) c.48A>G (p.Thr16=) | dbSNP |
| Y | g.20759885A>T | CA520176227 | RPS4Y2 | c.99A>T (p.Thr33=) c.48A>T (p.Thr16=) | |
| Y | g.20759886G>A | CA414858214 | RPS4Y2 | c.100G>A (p.Gly34Ser) c.49G>A (p.Gly17Ser) | |
| Y | g.20759886G>C | CA414858216 | RPS4Y2 | c.100G>C (p.Gly34Arg) c.49G>C (p.Gly17Arg) | |
| Y | g.20759886G>T | CA414858217 | RPS4Y2 | c.100G>T (p.Gly34Cys) c.49G>T (p.Gly17Cys) | |
| Y | g.20759887G>A | CA414858220 | RPS4Y2 | c.101G>A (p.Gly34Asp) c.50G>A (p.Gly17Asp) | COSMIC |
| Y | g.20759887G>C | CA414858221 | RPS4Y2 | c.101G>C (p.Gly34Ala) c.50G>C (p.Gly17Ala) | |
| Y | g.20759887G>T | CA414858223 | RPS4Y2 | c.101G>T (p.Gly34Val) c.50G>T (p.Gly17Val) | |
| Y | g.20759888T>A | CA520176236 | RPS4Y2 | c.102T>A (p.Gly34=) c.51T>A (p.Gly17=) | |
| Y | g.20759888T>C | CA520176238 | RPS4Y2 | c.102T>C (p.Gly34=) c.51T>C (p.Gly17=) | |
| Y | g.20759888T>G | CA520176239 | RPS4Y2 | c.102T>G (p.Gly34=) c.51T>G (p.Gly17=) | |
| Y | g.20759889C>A | CA414858229 | RPS4Y2 | c.103C>A (p.Pro35Thr) c.52C>A (p.Pro18Thr) | |
| Y | g.20759889C>G | CA414858227 | RPS4Y2 | c.103C>G (p.Pro35Ala) c.52C>G (p.Pro18Ala) | |
| Y | g.20759889C>T | CA414858225 | RPS4Y2 | c.103C>T (p.Pro35Ser) c.52C>T (p.Pro18Ser) | |
| Y | g.20759890C>A | CA414858231 | RPS4Y2 | c.104C>A (p.Pro35His) c.53C>A (p.Pro18His) | |
| Y | g.20759890C>G | CA414858233 | RPS4Y2 | c.104C>G (p.Pro35Arg) c.53C>G (p.Pro18Arg) | |
| Y | g.20759890C>T | CA414858235 | RPS4Y2 | c.104C>T (p.Pro35Leu) c.53C>T (p.Pro18Leu) | |
| Y | g.20759891T>A | CA520176248 | RPS4Y2 | c.105T>A (p.Pro35=) c.54T>A (p.Pro18=) | |
| Y | g.20759891T>C | CA520176251 | RPS4Y2 | c.105T>C (p.Pro35=) c.54T>C (p.Pro18=) | |
| Y | g.20759891T>G | CA520176250 | RPS4Y2 | c.105T>G (p.Pro35=) c.54T>G (p.Pro18=) | |
| Y | g.20759892C>A | CA414858238 | RPS4Y2 | c.106C>A (p.His36Asn) c.55C>A (p.His19Asn) | |
| Y | g.20759892C>G | CA414858239 | RPS4Y2 | c.106C>G (p.His36Asp) c.55C>G (p.His19Asp) | |
| Y | g.20759892C>T | CA414858240 | RPS4Y2 | c.106C>T (p.His36Tyr) c.55C>T (p.His19Tyr) | |
| Y | g.20759893A>C | CA414858243 | RPS4Y2 | c.107A>C (p.His36Pro) c.56A>C (p.His19Pro) | |
| Y | g.20759893A>G | CA414858244 | RPS4Y2 | c.107A>G (p.His36Arg) c.56A>G (p.His19Arg) | |
| Y | g.20759893A>T | CA414858246 | RPS4Y2 | c.107A>T (p.His36Leu) c.56A>T (p.His19Leu) | |
| Y | g.20759894C>A | CA10575186 | RPS4Y2 | c.108C>A (p.His36Gln) c.57C>A (p.His19Gln) | dbSNP ExAC gnomAD v2 |
| Y | g.20759894C= | CA2471054494 | RPS4Y2 | c.108C= (p.His36=) c.57C= (p.His19=) | |
| Y | g.20759894C>G | CA414858249 | RPS4Y2 | c.108C>G (p.His36Gln) c.57C>G (p.His19Gln) | |
| Y | g.20759894C>T | CA520176262 | RPS4Y2 | c.108C>T (p.His36=) c.57C>T (p.His19=) | |
| Y | g.20759895A= | CA2471054495 | RPS4Y2 | c.109A= (p.Lys37=) c.58A= (p.Lys20=) | |
| Y | g.20759895A>C | CA10575187 | RPS4Y2 | c.109A>C (p.Lys37Gln) c.58A>C (p.Lys20Gln) | dbSNP ExAC gnomAD v2 |
| Y | g.20759895A>G | CA414858251 | RPS4Y2 | c.109A>G (p.Lys37Glu) c.58A>G (p.Lys20Glu) | |
| Y | g.20759895A>T | CA414858252 | RPS4Y2 | c.109A>T (p.Lys37Ter) c.58A>T (p.Lys20Ter) | |
| Y | g.20759896A>C | CA414858256 | RPS4Y2 | c.110A>C (p.Lys37Thr) c.59A>C (p.Lys20Thr) | |
| Y | g.20759896A>G | CA414858257 | RPS4Y2 | c.110A>G (p.Lys37Arg) c.59A>G (p.Lys20Arg) | |
| Y | g.20759896A>T | CA414858259 | RPS4Y2 | c.110A>T (p.Lys37Met) c.59A>T (p.Lys20Met) | |
| Y | g.20759897G>A | CA520176270 | RPS4Y2 | c.111G>A (p.Lys37=) c.60G>A (p.Lys20=) | |
| Y | g.20759897G>C | CA414858261 | RPS4Y2 | c.111G>C (p.Lys37Asn) c.60G>C (p.Lys20Asn) | |
| Y | g.20759897G>T | CA414858263 | RPS4Y2 | c.111G>T (p.Lys37Asn) c.60G>T (p.Lys20Asn) | |
| Y | g.20759898C>A | CA414858265 | RPS4Y2 | c.112C>A (p.Leu38Met) c.61C>A (p.Leu21Met) | |
| Y | g.20759898C>G | CA414858266 | RPS4Y2 | c.112C>G (p.Leu38Val) c.61C>G (p.Leu21Val) | |
| Y | g.20759898C>T | CA520176275 | RPS4Y2 | c.112C>T (p.Leu38=) c.61C>T (p.Leu21=) | |
| Y | g.20759899T>A | CA414858268 | RPS4Y2 | c.113T>A (p.Leu38Gln) c.62T>A (p.Leu21Gln) | |
| Y | g.20759899T>C | CA414858270 | RPS4Y2 | c.113T>C (p.Leu38Pro) c.62T>C (p.Leu21Pro) | |
| Y | g.20759899T>G | CA414858272 | RPS4Y2 | c.113T>G (p.Leu38Arg) c.62T>G (p.Leu21Arg) | |
| Y | g.20759900G>A | CA10575188 | RPS4Y2 | c.114G>A (p.Leu38=) c.63G>A (p.Leu21=) | dbSNP ExAC gnomAD v2 |
| Y | g.20759900G>C | CA520176282 | RPS4Y2 | c.114G>C (p.Leu38=) c.63G>C (p.Leu21=) | |
| Y | g.20759900G= | CA2471054496 | RPS4Y2 | c.114G= (p.Leu38=) c.63G= (p.Leu21=) | |
| Y | g.20759900G>T | CA520176286 | RPS4Y2 | c.114G>T (p.Leu38=) c.63G>T (p.Leu21=) |