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.20756160C>A | CA10575153 | RPS4Y2 | c.-4C>A (n.-4C>A) | dbSNP ExAC gnomAD v2 |
| Y | g.20756160C= | CA2471054222 | RPS4Y2 | c.-4C= (n.-4C=) | |
| Y | g.20756160C>T | CA645235416 | RPS4Y2 | c.-4C>T (n.-4C>T) | dbSNP gnomAD v2 |
| Y | g.20756161G>T | CA2766256387 | RPS4Y2 | c.-3G>T (n.-3G>T) | |
| Y | g.20756162C>G | CA2766256388 | RPS4Y2 | c.-2C>G (n.-2C>G) | |
| Y | g.20756163C>T | CA2766256389 | RPS4Y2 | c.-1C>T (n.-1C>T) | |
| Y | g.20756164A>C | CA414857716 | RPS4Y2 | c.1A>C (p.Met1Leu) | |
| Y | g.20756164A>G | CA414857717 | RPS4Y2 | c.1A>G (p.Met1Val) | |
| Y | g.20756164A>T | CA414857718 | RPS4Y2 | c.1A>T (p.Met1Leu) | |
| Y | g.20756165T>A | CA414857719 | RPS4Y2 | c.2T>A (p.Met1Lys) | |
| Y | g.20756165T>C | CA414857720 | RPS4Y2 | c.2T>C (p.Met1Thr) | |
| Y | g.20756165T>G | CA414857721 | RPS4Y2 | c.2T>G (p.Met1Arg) | |
| Y | g.20756166G>A | CA414857722 | RPS4Y2 | c.3G>A (p.Met1Ile) | |
| Y | g.20756166G>C | CA414857723 | RPS4Y2 | c.3G>C (p.Met1Ile) | |
| Y | g.20756166G>T | CA414857724 | RPS4Y2 | c.3G>T (p.Met1Ile) | |
| Y | g.20756167G>A | CA414857727 | RPS4Y2 | c.3+1G>A (n.3+1G>A) | |
| Y | g.20756167G>C | CA414857725 | RPS4Y2 | c.3+1G>C (n.3+1G>C) | |
| Y | g.20756167G>T | CA414857726 | RPS4Y2 | c.3+1G>T (n.3+1G>T) | |
| Y | g.20756168T>A | CA414857728 | RPS4Y2 | c.3+2T>A (n.3+2T>A) | |
| Y | g.20756168T>C | CA414857729 | RPS4Y2 | c.3+2T>C (n.3+2T>C) | |
| Y | g.20756168T>G | CA414857730 | RPS4Y2 | c.3+2T>G (n.3+2T>G) | |
| Y | g.20756171G>A | CA10575154 | RPS4Y2 | c.3+5G>A (n.3+5G>A) | dbSNP ExAC gnomAD v2 |
| Y | g.20756171G= | CA2471054223 | RPS4Y2 | c.3+5G= (n.3+5G=) | |
| Y | g.20756173C= | CA2471054224 | RPS4Y2 | c.3+7C= (n.3+7C=) | |
| Y | g.20756173C>T | CA645235417 | RPS4Y2 | c.3+7C>T (n.3+7C>T) | dbSNP gnomAD v2 |
| Y | g.20756175T>C | CA10575155 | RPS4Y2 | c.3+9T>C (n.3+9T>C) | dbSNP ExAC gnomAD v2 |
| Y | g.20756175T= | CA2471054225 | RPS4Y2 | c.3+9T= (n.3+9T=) | |
| Y | g.20756176C>G | CA520175284 | RPS4Y2 | c.3+10C>G (n.3+10C>G) | |
| Y | g.20756178G>A | CA10575156 | RPS4Y2 | c.3+12G>A (n.3+12G>A) | dbSNP ExAC gnomAD v2 |
| Y | g.20756178G= | CA2471054226 | RPS4Y2 | c.3+12G= (n.3+12G=) | |
| Y | g.20756179C>T | CA2579749822 | RPS4Y2 | c.3+13C>T (n.3+13C>T) | |
| Y | g.20756180G>A | CA10575157 | RPS4Y2 | c.3+14G>A (n.3+14G>A) | dbSNP ExAC gnomAD v2 |
| Y | g.20756180G= | CA2471054227 | RPS4Y2 | c.3+14G= (n.3+14G=) | |
| Y | g.20756183C= | CA2471054228 | RPS4Y2 | c.3+17C= (n.3+17C=) | |
| Y | g.20756183C>G | CA337510999 | RPS4Y2 | c.3+17C>G (n.3+17C>G) | dbSNP |
| Y | g.20756184del | CA2579749823 | RPS4Y2 | c.3+18del (n.3+18del) | |
| Y | g.20756187C= | CA2471054229 | RPS4Y2 | c.3+21C= (n.3+21C=) | |
| Y | g.20756187C>T | CA10575159 | RPS4Y2 | c.3+21C>T (n.3+21C>T) | dbSNP ExAC gnomAD v2 |
| Y | g.20756187_20756188insAG | CA10575158 | RPS4Y2 | c.3+21_3+22insAG (n.3+21_3+22insAG) | dbSNP ExAC |
| Y | g.20756187_20756188insAGTATAGACAGGGTTTCACTGTGTTGGCCAAGCT | CA645235418 | RPS4Y2 | c.3+21_3+22insAGTATAGACAGGGTTTCACTGTGTTGGCCAAGCT (n.3+21_3+22insAGTATAGACAGGGTTTCACTGTGTTGGCCAAGCT) | gnomAD v2 |
| Y | g.20756188T>G | CA2579749824 | RPS4Y2 | c.3+22T>G (n.3+22T>G) | |
| Y | g.20756188T= | CA2471054230 | RPS4Y2 | c.3+22T= (n.3+22T=) | |
| Y | g.20756188_20756189insATAGA | CA10575160 | RPS4Y2 | c.3+22_3+23insATAGA (n.3+22_3+23insATAGA) | dbSNP ExAC |
| Y | g.20756188_20756189insATAGACAGGGTTTCACTGTGTTGGCCAAGCTTGTGTCAGACTCCTGACTTCATGAACCA | CA10575161 | RPS4Y2 | c.3+22_3+23insATAGACAGGGTTTCACTGTGTTGGCCAAGCTTGTGTCAGACTCCTGACTTCATGAACCA (n.3+22_3+23insATAGACAGGGTTTCACTGTGTTGGCCAAGCTTGTGTCAGACTCCTGACTTCATGAACCA) | ExAC |
| Y | g.20756190C>A | CA10575162 | RPS4Y2 | c.3+24C>A (n.3+24C>A) | dbSNP ExAC |
| Y | g.20756190C= | CA2471054231 | RPS4Y2 | c.3+24C= (n.3+24C=) | |
| Y | g.20756190C>T | CA2766256390 | RPS4Y2 | c.3+24C>T (n.3+24C>T) | |
| Y | g.20756191G>A | CA10575163 | RPS4Y2 | c.3+25G>A (n.3+25G>A) | dbSNP ExAC gnomAD v2 |
| Y | g.20756191G= | CA2471054232 | RPS4Y2 | c.3+25G= (n.3+25G=) | |
| Y | g.20756197A= | CA2471054233 | RPS4Y2 | c.3+31A= (n.3+31A=) | |
| Y | g.20756197A>T | CA10575164 | RPS4Y2 | c.3+31A>T (n.3+31A>T) | dbSNP ExAC gnomAD v2 |
| Y | g.20756199C>A | CA645235419 | RPS4Y2 | c.3+33C>A (n.3+33C>A) | dbSNP gnomAD v2 |
| Y | g.20756199C= | CA2471054234 | RPS4Y2 | c.3+33C= (n.3+33C=) | |
| Y | g.20756202C>A | CA2579749825 | RPS4Y2 | c.3+36C>A (n.3+36C>A) | |
| Y | g.20756202C= | CA2471054235 | RPS4Y2 | c.3+36C= (n.3+36C=) | |
| Y | g.20756202C>T | CA10575165 | RPS4Y2 | c.3+36C>T (n.3+36C>T) | dbSNP ExAC gnomAD v2 |
| Y | g.20756204_20756205delinsTC | CA2471054236 | RPS4Y2 | c.3+38_3+39delinsTC (n.3+38_3+39delinsTC) | |
| Y | g.20756206del | CA10575166 | RPS4Y2 | c.3+40del (n.3+40del) | dbSNP ExAC gnomAD v2 |
| Y | g.20756206C>A | CA10575167 | RPS4Y2 | c.3+40C>A (n.3+40C>A) | dbSNP ExAC |
| Y | g.20756206C= | CA2471054237 | RPS4Y2 | c.3+40C= (n.3+40C=) | |
| Y | g.20756206C>T | CA645235420 | RPS4Y2 | c.3+40C>T (n.3+40C>T) | dbSNP gnomAD v2 |
| Y | g.20756207A= | CA2471054238 | RPS4Y2 | c.3+41A= (n.3+41A=) | |
| Y | g.20756207A>G | CA10575168 | RPS4Y2 | c.3+41A>G (n.3+41A>G) | dbSNP ExAC gnomAD v2 |
| Y | g.20756208T>A | CA2579749826 | RPS4Y2 | c.3+42T>A (n.3+42T>A) | |
| Y | g.20756209C>A | CA2579749827 | RPS4Y2 | c.3+43C>A (n.3+43C>A) | |
| Y | g.20756209C= | CA2471054239 | RPS4Y2 | c.3+43C= (n.3+43C=) | |
| Y | g.20756209C>T | CA645235421 | RPS4Y2 | c.3+43C>T (n.3+43C>T) | dbSNP gnomAD v2 |
| Y | g.20756210C= | CA2471054240 | RPS4Y2 | c.3+44C= (n.3+44C=) | |
| Y | g.20756210C>G | CA10575169 | RPS4Y2 | c.3+44C>G (n.3+44C>G) | dbSNP ExAC gnomAD v2 |
| Y | g.20756216A>G | CA2766256391 | RPS4Y2 | c.3+50A>G (n.3+50A>G) | |
| Y | g.20756217G>A | CA923787694 | RPS4Y2 | c.3+51G>A (n.3+51G>A) | |
| Y | g.20756221G>A | CA2766256392 | RPS4Y2 | c.3+55G>A (n.3+55G>A) | |
| Y | g.20756222G>A | CA2766256393 | RPS4Y2 | c.3+56G>A (n.3+56G>A) | |
| Y | g.20756225_20756228dup | CA2766256394 | RPS4Y2 | c.3+59_3+62dup (n.3+59_3+62dup) | |
| Y | g.20756226T>C | CA2766256395 | RPS4Y2 | c.3+60T>C (n.3+60T>C) | |
| Y | g.20756228C>T | CA2766256396 | RPS4Y2 | c.3+62C>T (n.3+62C>T) | |
| Y | g.20756229A>C | CA2766256397 | RPS4Y2 | c.3+63A>C (n.3+63A>C) | |
| Y | g.20756231C>G | CA2579749828 | RPS4Y2 | c.3+65C>G (n.3+65C>G) | |
| Y | g.20756236C>A | CA337511011 | RPS4Y2 | c.3+70C>A (n.3+70C>A) | dbSNP |
| Y | g.20756236C= | CA2471054241 | RPS4Y2 | c.3+70C= (n.3+70C=) | |
| Y | g.20756236C>T | CA658489010 | RPS4Y2 | c.3+70C>T (n.3+70C>T) | COSMIC |
| Y | g.20756237A>G | CA2766256398 | RPS4Y2 | c.3+71A>G (n.3+71A>G) | |
| Y | g.20756239G>A | CA923787705 | RPS4Y2 | c.3+73G>A (n.3+73G>A) | |
| Y | g.20756251C>T | CA923787713 | RPS4Y2 | c.3+85C>T (n.3+85C>T) | |
| Y | g.20756257C>A | CA2579749829 | RPS4Y2 | c.3+91C>A (n.3+91C>A) | |
| Y | g.20756258C>G | CA2766256399 | RPS4Y2 | c.3+92C>G (n.3+92C>G) | |
| Y | g.20756258C>T | CA2766256400 | RPS4Y2 | c.3+92C>T (n.3+92C>T) | |
| Y | g.20756259G>A | CA2766256401 | RPS4Y2 | c.3+93G>A (n.3+93G>A) | |
| Y | g.20756259G>T | CA2766256402 | RPS4Y2 | c.3+93G>T (n.3+93G>T) | |
| Y | g.20756260C>A | CA2579749830 | RPS4Y2 | c.3+94C>A (n.3+94C>A) | |
| Y | g.20756260C>G | CA923787715 | RPS4Y2 | c.3+94C>G (n.3+94C>G) |