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.20759903G>A | CA520176300 | RPS4Y2 | c.117G>A (p.Arg39=) c.66G>A (p.Arg22=) | |
| Y | g.20759903G>C | CA414858282 | RPS4Y2 | c.117G>C (p.Arg39Ser) c.66G>C (p.Arg22Ser) | |
| Y | g.20759903G>T | CA414858283 | RPS4Y2 | c.117G>T (p.Arg39Ser) c.66G>T (p.Arg22Ser) | |
| Y | g.20759904G>A | CA414858284 | RPS4Y2 | c.118G>A (p.Glu40Lys) c.67G>A (p.Glu23Lys) | |
| Y | g.20759904G>C | CA414858285 | RPS4Y2 | c.118G>C (p.Glu40Gln) c.67G>C (p.Glu23Gln) | |
| Y | g.20759904G>T | CA414858286 | RPS4Y2 | c.118G>T (p.Glu40Ter) c.67G>T (p.Glu23Ter) | |
| Y | g.20759905A>C | CA414858287 | RPS4Y2 | c.119A>C (p.Glu40Ala) c.68A>C (p.Glu23Ala) | |
| Y | g.20759905A>G | CA414858288 | RPS4Y2 | c.119A>G (p.Glu40Gly) c.68A>G (p.Glu23Gly) | |
| Y | g.20759905A>T | CA414858289 | RPS4Y2 | c.119A>T (p.Glu40Val) c.68A>T (p.Glu23Val) | |
| Y | g.20759906A= | CA2471054497 | RPS4Y2 | c.120A= (p.Glu40=) c.69A= (p.Glu23=) | |
| Y | g.20759906A>C | CA414858290 | RPS4Y2 | c.120A>C (p.Glu40Asp) c.69A>C (p.Glu23Asp) | |
| Y | g.20759906A>G | CA520176316 | RPS4Y2 | c.120A>G (p.Glu40=) c.69A>G (p.Glu23=) | |
| Y | g.20759906A>T | CA10575189 | RPS4Y2 | c.120A>T (p.Glu40Asp) c.69A>T (p.Glu23Asp) | dbSNP ExAC gnomAD v2 |
| Y | g.20759907T>A | CA414858295 | RPS4Y2 | c.121T>A (p.Cys41Ser) c.70T>A (p.Cys24Ser) | |
| Y | g.20759907T>C | CA414858293 | RPS4Y2 | c.121T>C (p.Cys41Arg) c.70T>C (p.Cys24Arg) | |
| Y | g.20759907T>G | CA414858291 | RPS4Y2 | c.121T>G (p.Cys41Gly) c.70T>G (p.Cys24Gly) | |
| Y | g.20759908G>A | CA414858297 | RPS4Y2 | c.122G>A (p.Cys41Tyr) c.71G>A (p.Cys24Tyr) | |
| Y | g.20759908G>C | CA414858298 | RPS4Y2 | c.122G>C (p.Cys41Ser) c.71G>C (p.Cys24Ser) | |
| Y | g.20759908G>T | CA414858299 | RPS4Y2 | c.122G>T (p.Cys41Phe) c.71G>T (p.Cys24Phe) | |
| Y | g.20759909T>A | CA414858300 | RPS4Y2 | c.123T>A (p.Cys41Ter) c.72T>A (p.Cys24Ter) | |
| Y | g.20759909T>C | CA520176328 | RPS4Y2 | c.123T>C (p.Cys41=) c.72T>C (p.Cys24=) | |
| Y | g.20759909T>G | CA414858301 | RPS4Y2 | c.123T>G (p.Cys41Trp) c.72T>G (p.Cys24Trp) | |
| Y | g.20759910C>A | CA414858302 | RPS4Y2 | c.124C>A (p.Leu42Ile) c.73C>A (p.Leu25Ile) | |
| Y | g.20759910C>G | CA414858303 | RPS4Y2 | c.124C>G (p.Leu42Val) c.73C>G (p.Leu25Val) | |
| Y | g.20759910C>T | CA414858305 | RPS4Y2 | c.124C>T (p.Leu42Phe) c.73C>T (p.Leu25Phe) | |
| Y | g.20759911T>A | CA414858307 | RPS4Y2 | c.125T>A (p.Leu42His) c.74T>A (p.Leu25His) | |
| Y | g.20759911T>C | CA414858308 | RPS4Y2 | c.125T>C (p.Leu42Pro) c.74T>C (p.Leu25Pro) | |
| Y | g.20759911T>G | CA414858310 | RPS4Y2 | c.125T>G (p.Leu42Arg) c.74T>G (p.Leu25Arg) | |
| Y | g.20759912T>A | CA520176338 | RPS4Y2 | c.126T>A (p.Leu42=) c.75T>A (p.Leu25=) | |
| Y | g.20759912T>C | CA520176339 | RPS4Y2 | c.126T>C (p.Leu42=) c.75T>C (p.Leu25=) | |
| Y | g.20759912T>G | CA520176341 | RPS4Y2 | c.126T>G (p.Leu42=) c.75T>G (p.Leu25=) | |
| Y | g.20759913C>A | CA414858316 | RPS4Y2 | c.127C>A (p.Pro43Thr) c.76C>A (p.Pro26Thr) | |
| Y | g.20759913C>G | CA414858314 | RPS4Y2 | c.127C>G (p.Pro43Ala) c.76C>G (p.Pro26Ala) | |
| Y | g.20759913C>T | CA414858312 | RPS4Y2 | c.127C>T (p.Pro43Ser) c.76C>T (p.Pro26Ser) | |
| Y | g.20759914C>A | CA414858318 | RPS4Y2 | c.128C>A (p.Pro43His) c.77C>A (p.Pro26His) | |
| Y | g.20759914C>G | CA414858320 | RPS4Y2 | c.128C>G (p.Pro43Arg) c.77C>G (p.Pro26Arg) | |
| Y | g.20759914C>T | CA414858325 | RPS4Y2 | c.128C>T (p.Pro43Leu) c.77C>T (p.Pro26Leu) | |
| Y | g.20759915C>A | CA520176353 | RPS4Y2 | c.129C>A (p.Pro43=) c.78C>A (p.Pro26=) | |
| Y | g.20759915C>G | CA520176354 | RPS4Y2 | c.129C>G (p.Pro43=) c.78C>G (p.Pro26=) | |
| Y | g.20759915C>T | CA520176356 | RPS4Y2 | c.129C>T (p.Pro43=) c.78C>T (p.Pro26=) | |
| Y | g.20759916C>A | CA414858327 | RPS4Y2 | c.130C>A (p.Leu44Met) c.79C>A (p.Leu27Met) | |
| Y | g.20759916C>G | CA414858329 | RPS4Y2 | c.130C>G (p.Leu44Val) c.79C>G (p.Leu27Val) | |
| Y | g.20759916C>T | CA520176360 | RPS4Y2 | c.130C>T (p.Leu44=) c.79C>T (p.Leu27=) | |
| Y | g.20759917T>A | CA414858331 | RPS4Y2 | c.131T>A (p.Leu44Gln) c.80T>A (p.Leu27Gln) | |
| Y | g.20759917T>C | CA414858332 | RPS4Y2 | c.131T>C (p.Leu44Pro) c.80T>C (p.Leu27Pro) | |
| Y | g.20759917T>G | CA414858334 | RPS4Y2 | c.131T>G (p.Leu44Arg) c.80T>G (p.Leu27Arg) | |
| Y | g.20759918G>A | CA520176367 | RPS4Y2 | c.132G>A (p.Leu44=) c.81G>A (p.Leu27=) | |
| Y | g.20759918G>C | CA520176368 | RPS4Y2 | c.132G>C (p.Leu44=) c.81G>C (p.Leu27=) | |
| Y | g.20759918G>T | CA520176369 | RPS4Y2 | c.132G>T (p.Leu44=) c.81G>T (p.Leu27=) | |
| Y | g.20759919A>C | CA414858336 | RPS4Y2 | c.133A>C (p.Ile45Leu) c.82A>C (p.Ile28Leu) | |
| Y | g.20759919A>G | CA414858338 | RPS4Y2 | c.133A>G (p.Ile45Val) c.82A>G (p.Ile28Val) | |
| Y | g.20759919A>T | CA414858340 | RPS4Y2 | c.133A>T (p.Ile45Leu) c.82A>T (p.Ile28Leu) | |
| Y | g.20759920T>A | CA414858345 | RPS4Y2 | c.134T>A (p.Ile45Lys) c.83T>A (p.Ile28Lys) | |
| Y | g.20759920T>C | CA414858343 | RPS4Y2 | c.134T>C (p.Ile45Thr) c.83T>C (p.Ile28Thr) | |
| Y | g.20759920T>G | CA414858341 | RPS4Y2 | c.134T>G (p.Ile45Arg) c.83T>G (p.Ile28Arg) | |
| Y | g.20759921A>C | CA520176393 | RPS4Y2 | c.135A>C (p.Ile45=) c.84A>C (p.Ile28=) | |
| Y | g.20759921A>G | CA414858347 | RPS4Y2 | c.135A>G (p.Ile45Met) c.84A>G (p.Ile28Met) | |
| Y | g.20759921A>T | CA520176377 | RPS4Y2 | c.135A>T (p.Ile45=) c.84A>T (p.Ile28=) | |
| Y | g.20759922G>A | CA414858349 | RPS4Y2 | c.136G>A (p.Val46Ile) c.85G>A (p.Val29Ile) | |
| Y | g.20759922G>C | CA414858352 | RPS4Y2 | c.136G>C (p.Val46Leu) c.85G>C (p.Val29Leu) | |
| Y | g.20759922G>T | CA414858354 | RPS4Y2 | c.136G>T (p.Val46Phe) c.85G>T (p.Val29Phe) | |
| Y | g.20759923T>A | CA414858357 | RPS4Y2 | c.137T>A (p.Val46Asp) c.86T>A (p.Val29Asp) | |
| Y | g.20759923T>C | CA414858358 | RPS4Y2 | c.137T>C (p.Val46Ala) c.86T>C (p.Val29Ala) | |
| Y | g.20759923T>G | CA414858360 | RPS4Y2 | c.137T>G (p.Val46Gly) c.86T>G (p.Val29Gly) | |
| Y | g.20759924C>A | CA520176399 | RPS4Y2 | c.138C>A (p.Val46=) c.87C>A (p.Val29=) | |
| Y | g.20759924C>G | CA520176401 | RPS4Y2 | c.138C>G (p.Val46=) c.87C>G (p.Val29=) | |
| Y | g.20759924C>T | CA520176402 | RPS4Y2 | c.138C>T (p.Val46=) c.87C>T (p.Val29=) | |
| Y | g.20759925T>A | CA414858362 | RPS4Y2 | c.139T>A (p.Phe47Ile) c.88T>A (p.Phe30Ile) | |
| Y | g.20759925T>C | CA414858364 | RPS4Y2 | c.139T>C (p.Phe47Leu) c.88T>C (p.Phe30Leu) | |
| Y | g.20759925T>G | CA414858367 | RPS4Y2 | c.139T>G (p.Phe47Val) c.88T>G (p.Phe30Val) | |
| Y | g.20759926T>A | CA414858369 | RPS4Y2 | c.140T>A (p.Phe47Tyr) c.89T>A (p.Phe30Tyr) | |
| Y | g.20759926T>C | CA414858371 | RPS4Y2 | c.140T>C (p.Phe47Ser) c.89T>C (p.Phe30Ser) | |
| Y | g.20759926T>G | CA414858373 | RPS4Y2 | c.140T>G (p.Phe47Cys) c.89T>G (p.Phe30Cys) | |
| Y | g.20759927C>A | CA414858375 | RPS4Y2 | c.141C>A (p.Phe47Leu) c.90C>A (p.Phe30Leu) | |
| Y | g.20759927C>G | CA414858376 | RPS4Y2 | c.141C>G (p.Phe47Leu) c.90C>G (p.Phe30Leu) | COSMIC |
| Y | g.20759927C>T | CA520176412 | RPS4Y2 | c.141C>T (p.Phe47=) c.90C>T (p.Phe30=) | |
| Y | g.20759928C>A | CA414858378 | RPS4Y2 | c.142C>A (p.Leu48Ile) c.91C>A (p.Leu31Ile) | |
| Y | g.20759928C>G | CA414858381 | RPS4Y2 | c.142C>G (p.Leu48Val) c.91C>G (p.Leu31Val) | |
| Y | g.20759928C>T | CA414858383 | RPS4Y2 | c.142C>T (p.Leu48Phe) c.91C>T (p.Leu31Phe) | |
| Y | g.20759929T>A | CA414858386 | RPS4Y2 | c.143T>A (p.Leu48His) c.92T>A (p.Leu31His) | |
| Y | g.20759929T>C | CA414858387 | RPS4Y2 | c.143T>C (p.Leu48Pro) c.92T>C (p.Leu31Pro) | |
| Y | g.20759929T>G | CA414858389 | RPS4Y2 | c.143T>G (p.Leu48Arg) c.92T>G (p.Leu31Arg) | |
| Y | g.20759930C>A | CA520176422 | RPS4Y2 | c.144C>A (p.Leu48=) c.93C>A (p.Leu31=) | |
| Y | g.20759930C>G | CA520176424 | RPS4Y2 | c.144C>G (p.Leu48=) c.93C>G (p.Leu31=) | |
| Y | g.20759930C>T | CA520176426 | RPS4Y2 | c.144C>T (p.Leu48=) c.93C>T (p.Leu31=) | |
| Y | g.20759931A>C | CA520176428 | RPS4Y2 | c.145A>C (p.Arg49=) c.94A>C (p.Arg32=) | |
| Y | g.20759931A>G | CA414858391 | RPS4Y2 | c.145A>G (p.Arg49Gly) c.94A>G (p.Arg32Gly) | |
| Y | g.20759931A>T | CA414858393 | RPS4Y2 | c.145A>T (p.Arg49Trp) c.94A>T (p.Arg32Trp) | |
| Y | g.20759932G>A | CA414858396 | RPS4Y2 | c.146G>A (p.Arg49Lys) c.95G>A (p.Arg32Lys) | |
| Y | g.20759932G>C | CA414858397 | RPS4Y2 | c.146G>C (p.Arg49Thr) c.95G>C (p.Arg32Thr) | |
| Y | g.20759932G>T | CA414858398 | RPS4Y2 | c.146G>T (p.Arg49Met) c.95G>T (p.Arg32Met) | |
| Y | g.20759933G>A | CA520176437 | RPS4Y2 | c.147G>A (p.Arg49=) c.96G>A (p.Arg32=) | |
| Y | g.20759933G>C | CA414858401 | RPS4Y2 | c.147G>C (p.Arg49Ser) c.96G>C (p.Arg32Ser) | |
| Y | g.20759933G>T | CA414858403 | RPS4Y2 | c.147G>T (p.Arg49Ser) c.96G>T (p.Arg32Ser) | |
| Y | g.20759934A>C | CA414858408 | RPS4Y2 | c.148A>C (p.Asn50His) c.97A>C (p.Asn33His) | |
| Y | g.20759934A>G | CA414858405 | RPS4Y2 | c.148A>G (p.Asn50Asp) c.97A>G (p.Asn33Asp) | |
| Y | g.20759934A>T | CA414858406 | RPS4Y2 | c.148A>T (p.Asn50Tyr) c.97A>T (p.Asn33Tyr) | |
| Y | g.20759935A>C | CA414858410 | RPS4Y2 | c.149A>C (p.Asn50Thr) c.98A>C (p.Asn33Thr) | |
| Y | g.20759935A>G | CA414858411 | RPS4Y2 | c.149A>G (p.Asn50Ser) c.98A>G (p.Asn33Ser) | |
| Y | g.20759935A>T | CA414858413 | RPS4Y2 | c.149A>T (p.Asn50Ile) c.98A>T (p.Asn33Ile) | |
| Y | g.20759936T>A | CA414858416 | RPS4Y2 | c.150T>A (p.Asn50Lys) c.99T>A (p.Asn33Lys) | |
| Y | g.20759936T>C | CA520176448 | RPS4Y2 | c.150T>C (p.Asn50=) c.99T>C (p.Asn33=) | |
| Y | g.20759936T>G | CA414858417 | RPS4Y2 | c.150T>G (p.Asn50Lys) c.99T>G (p.Asn33Lys) | |
| Y | g.20759937A>C | CA520176452 | RPS4Y2 | c.151A>C (p.Arg51=) c.100A>C (p.Arg34=) | |
| Y | g.20759937A>G | CA414858419 | RPS4Y2 | c.151A>G (p.Arg51Gly) c.100A>G (p.Arg34Gly) | |
| Y | g.20759937A>T | CA414858420 | RPS4Y2 | c.151A>T (p.Arg51Ter) c.100A>T (p.Arg34Ter) | |
| Y | g.20759938G>A | CA414858422 | RPS4Y2 | c.152G>A (p.Arg51Lys) c.101G>A (p.Arg34Lys) | |
| Y | g.20759938G>C | CA414858424 | RPS4Y2 | c.152G>C (p.Arg51Thr) c.101G>C (p.Arg34Thr) | |
| Y | g.20759938G>T | CA414858426 | RPS4Y2 | c.152G>T (p.Arg51Ile) c.101G>T (p.Arg34Ile) | |
| Y | g.20759939A>C | CA414858427 | RPS4Y2 | c.153A>C (p.Arg51Ser) c.102A>C (p.Arg34Ser) | |
| Y | g.20759939A>G | CA520176459 | RPS4Y2 | c.153A>G (p.Arg51=) c.102A>G (p.Arg34=) | |
| Y | g.20759939A>T | CA414858429 | RPS4Y2 | c.153A>T (p.Arg51Ser) c.102A>T (p.Arg34Ser) | |
| Y | g.20759940C>A | CA414858434 | RPS4Y2 | c.154C>A (p.Leu52Ile) c.103C>A (p.Leu35Ile) | |
| Y | g.20759940C>G | CA414858431 | RPS4Y2 | c.154C>G (p.Leu52Val) c.103C>G (p.Leu35Val) | |
| Y | g.20759940C>T | CA414858433 | RPS4Y2 | c.154C>T (p.Leu52Phe) c.103C>T (p.Leu35Phe) | |
| Y | g.20759941T>A | CA414858438 | RPS4Y2 | c.155T>A (p.Leu52His) c.104T>A (p.Leu35His) | |
| Y | g.20759941T>C | CA414858439 | RPS4Y2 | c.155T>C (p.Leu52Pro) c.104T>C (p.Leu35Pro) | dbSNP |
| Y | g.20759941T>G | CA414858440 | RPS4Y2 | c.155T>G (p.Leu52Arg) c.104T>G (p.Leu35Arg) | |
| Y | g.20759941T= | CA2471054498 | RPS4Y2 | c.155T= (p.Leu52=) c.104T= (p.Leu35=) | |
| Y | g.20759942C>A | CA520176470 | RPS4Y2 | c.156C>A (p.Leu52=) c.105C>A (p.Leu35=) | |
| Y | g.20759942C>G | CA520176466 | RPS4Y2 | c.156C>G (p.Leu52=) c.105C>G (p.Leu35=) | |
| Y | g.20759942C>T | CA520176468 | RPS4Y2 | c.156C>T (p.Leu52=) c.105C>T (p.Leu35=) | |
| Y | g.20759943A>C | CA414858443 | RPS4Y2 | c.157A>C (p.Lys53Gln) c.106A>C (p.Lys36Gln) | |
| Y | g.20759943A>G | CA414858445 | RPS4Y2 | c.157A>G (p.Lys53Glu) c.106A>G (p.Lys36Glu) | |
| Y | g.20759943A>T | CA414858446 | RPS4Y2 | c.157A>T (p.Lys53Ter) c.106A>T (p.Lys36Ter) | |
| Y | g.20759944A>C | CA414858452 | RPS4Y2 | c.158A>C (p.Lys53Thr) c.107A>C (p.Lys36Thr) | |
| Y | g.20759944A>G | CA414858448 | RPS4Y2 | c.158A>G (p.Lys53Arg) c.107A>G (p.Lys36Arg) | |
| Y | g.20759944A>T | CA414858450 | RPS4Y2 | c.158A>T (p.Lys53Met) c.107A>T (p.Lys36Met) | |
| Y | g.20759945G>A | CA520176478 | RPS4Y2 | c.159G>A (p.Lys53=) c.108G>A (p.Lys36=) | |
| Y | g.20759945G>C | CA414858454 | RPS4Y2 | c.159G>C (p.Lys53Asn) c.108G>C (p.Lys36Asn) | |
| Y | g.20759945G>T | CA414858456 | RPS4Y2 | c.159G>T (p.Lys53Asn) c.108G>T (p.Lys36Asn) | |
| Y | g.20759946T>A | CA414858458 | RPS4Y2 | c.160T>A (p.Tyr54Asn) c.109T>A (p.Tyr37Asn) | |
| Y | g.20759946T>C | CA414858460 | RPS4Y2 | c.160T>C (p.Tyr54His) c.109T>C (p.Tyr37His) | |
| Y | g.20759946T>G | CA414858461 | RPS4Y2 | c.160T>G (p.Tyr54Asp) c.109T>G (p.Tyr37Asp) | |
| Y | g.20759947A>C | CA414858463 | RPS4Y2 | c.161A>C (p.Tyr54Ser) c.110A>C (p.Tyr37Ser) | |
| Y | g.20759947A>G | CA414858467 | RPS4Y2 | c.161A>G (p.Tyr54Cys) c.110A>G (p.Tyr37Cys) | |
| Y | g.20759947A>T | CA414858464 | RPS4Y2 | c.161A>T (p.Tyr54Phe) c.110A>T (p.Tyr37Phe) | |
| Y | g.20759948T>A | CA414858469 | RPS4Y2 | c.162T>A (p.Tyr54Ter) c.111T>A (p.Tyr37Ter) | |
| Y | g.20759948T>C | CA520176488 | RPS4Y2 | c.162T>C (p.Tyr54=) c.111T>C (p.Tyr37=) | |
| Y | g.20759948T>G | CA414858471 | RPS4Y2 | c.162T>G (p.Tyr54Ter) c.111T>G (p.Tyr37Ter) | |
| Y | g.20759949G>A | CA414858472 | RPS4Y2 | c.163G>A (p.Ala55Thr) c.112G>A (p.Ala38Thr) | |
| Y | g.20759949G>C | CA414858473 | RPS4Y2 | c.163G>C (p.Ala55Pro) c.112G>C (p.Ala38Pro) | |
| Y | g.20759949G>T | CA414858474 | RPS4Y2 | c.163G>T (p.Ala55Ser) c.112G>T (p.Ala38Ser) | |
| Y | g.20759950C>A | CA414858475 | RPS4Y2 | c.164C>A (p.Ala55Glu) c.113C>A (p.Ala38Glu) | |
| Y | g.20759950C>G | CA414858476 | RPS4Y2 | c.164C>G (p.Ala55Gly) c.113C>G (p.Ala38Gly) | |
| Y | g.20759950C>T | CA414858477 | RPS4Y2 | c.164C>T (p.Ala55Val) c.113C>T (p.Ala38Val) | |
| Y | g.20759951A>C | CA520176497 | RPS4Y2 | c.165A>C (p.Ala55=) c.114A>C (p.Ala38=) | |
| Y | g.20759951A>G | CA520176499 | RPS4Y2 | c.165A>G (p.Ala55=) c.114A>G (p.Ala38=) | |
| Y | g.20759951A>T | CA520176500 | RPS4Y2 | c.165A>T (p.Ala55=) c.114A>T (p.Ala38=) | |
| Y | g.20759952T>A | CA414858478 | RPS4Y2 | c.166T>A (p.Leu56Met) c.115T>A (p.Leu39Met) | |
| Y | g.20759952T>C | CA520176504 | RPS4Y2 | c.166T>C (p.Leu56=) c.115T>C (p.Leu39=) | |
| Y | g.20759952T>G | CA414858479 | RPS4Y2 | c.166T>G (p.Leu56Val) c.115T>G (p.Leu39Val) | |
| Y | g.20759953T>A | CA414858480 | RPS4Y2 | c.167T>A (p.Leu56Ter) c.116T>A (p.Leu39Ter) | |
| Y | g.20759953T>C | CA414858482 | RPS4Y2 | c.167T>C (p.Leu56Ser) c.116T>C (p.Leu39Ser) | |
| Y | g.20759953T>G | CA414858481 | RPS4Y2 | c.167T>G (p.Leu56Trp) c.116T>G (p.Leu39Trp) | |
| Y | g.20759954G>A | CA520176511 | RPS4Y2 | c.168G>A (p.Leu56=) c.117G>A (p.Leu39=) | |
| Y | g.20759954G>C | CA414858483 | RPS4Y2 | c.168G>C (p.Leu56Phe) c.117G>C (p.Leu39Phe) | |
| Y | g.20759954G>T | CA414858484 | RPS4Y2 | c.168G>T (p.Leu56Phe) c.117G>T (p.Leu39Phe) | |
| Y | g.20759955A>C | CA414858485 | RPS4Y2 | c.169A>C (p.Thr57Pro) c.118A>C (p.Thr40Pro) | |
| Y | g.20759955A>G | CA414858486 | RPS4Y2 | c.169A>G (p.Thr57Ala) c.118A>G (p.Thr40Ala) | |
| Y | g.20759955A>T | CA414858487 | RPS4Y2 | c.169A>T (p.Thr57Ser) c.118A>T (p.Thr40Ser) | |
| Y | g.20759956C>A | CA414858488 | RPS4Y2 | c.170C>A (p.Thr57Asn) c.119C>A (p.Thr40Asn) | |
| Y | g.20759956C>G | CA414858489 | RPS4Y2 | c.170C>G (p.Thr57Ser) c.119C>G (p.Thr40Ser) | |
| Y | g.20759956C>T | CA414858490 | RPS4Y2 | c.170C>T (p.Thr57Ile) c.119C>T (p.Thr40Ile) | |
| Y | g.20759957T>A | CA520176520 | RPS4Y2 | c.171T>A (p.Thr57=) c.120T>A (p.Thr40=) | |
| Y | g.20759957T>C | CA520176522 | RPS4Y2 | c.171T>C (p.Thr57=) c.120T>C (p.Thr40=) | |
| Y | g.20759957T>G | CA520176524 | RPS4Y2 | c.171T>G (p.Thr57=) c.120T>G (p.Thr40=) | |
| Y | g.20759958G>A | CA414858491 | RPS4Y2 | c.172G>A (p.Gly58Arg) c.121G>A (p.Gly41Arg) | |
| Y | g.20759958G>C | CA414858492 | RPS4Y2 | c.172G>C (p.Gly58Arg) c.121G>C (p.Gly41Arg) | |
| Y | g.20759958G>T | CA414858493 | RPS4Y2 | c.172G>T (p.Gly58Ter) c.121G>T (p.Gly41Ter) | |
| Y | g.20759959G>A | CA414858494 | RPS4Y2 | c.173G>A (p.Gly58Glu) c.122G>A (p.Gly41Glu) | |
| Y | g.20759959G>C | CA414858495 | RPS4Y2 | c.173G>C (p.Gly58Ala) c.122G>C (p.Gly41Ala) | |
| Y | g.20759959G>T | CA414858496 | RPS4Y2 | c.173G>T (p.Gly58Val) c.122G>T (p.Gly41Val) | |
| Y | g.20759960A>C | CA520176533 | RPS4Y2 | c.174A>C (p.Gly58=) c.123A>C (p.Gly41=) | |
| Y | g.20759960A>G | CA520176535 | RPS4Y2 | c.174A>G (p.Gly58=) c.123A>G (p.Gly41=) | |
| Y | g.20759960A>T | CA520176537 | RPS4Y2 | c.174A>T (p.Gly58=) c.123A>T (p.Gly41=) | |
| Y | g.20759961G>A | CA414858501 | RPS4Y2 | c.175G>A (p.Asp59Asn) c.124G>A (p.Asp42Asn) | |
| Y | g.20759961G>C | CA414858497 | RPS4Y2 | c.175G>C (p.Asp59His) c.124G>C (p.Asp42His) | |
| Y | g.20759961G>T | CA414858499 | RPS4Y2 | c.175G>T (p.Asp59Tyr) c.124G>T (p.Asp42Tyr) | |
| Y | g.20759962A>C | CA414858503 | RPS4Y2 | c.176A>C (p.Asp59Ala) c.125A>C (p.Asp42Ala) | |
| Y | g.20759962A>G | CA414858505 | RPS4Y2 | c.176A>G (p.Asp59Gly) c.125A>G (p.Asp42Gly) | |
| Y | g.20759962A>T | CA414858507 | RPS4Y2 | c.176A>T (p.Asp59Val) c.125A>T (p.Asp42Val) | |
| Y | g.20759963T>A | CA414858509 | RPS4Y2 | c.177T>A (p.Asp59Glu) c.126T>A (p.Asp42Glu) | |
| Y | g.20759963T>C | CA520176547 | RPS4Y2 | c.177T>C (p.Asp59=) c.126T>C (p.Asp42=) | |
| Y | g.20759963T>G | CA414858510 | RPS4Y2 | c.177T>G (p.Asp59Glu) c.126T>G (p.Asp42Glu) | |
| Y | g.20759964G>A | CA414858513 | RPS4Y2 | c.178G>A (p.Glu60Lys) c.127G>A (p.Glu43Lys) | |
| Y | g.20759964G>C | CA414858514 | RPS4Y2 | c.178G>C (p.Glu60Gln) c.127G>C (p.Glu43Gln) | |
| Y | g.20759964G>T | CA414858516 | RPS4Y2 | c.178G>T (p.Glu60Ter) c.127G>T (p.Glu43Ter) | |
| Y | g.20759965A>C | CA414858518 | RPS4Y2 | c.179A>C (p.Glu60Ala) c.128A>C (p.Glu43Ala) | |
| Y | g.20759965A>G | CA414858519 | RPS4Y2 | c.179A>G (p.Glu60Gly) c.128A>G (p.Glu43Gly) | |
| Y | g.20759965A>T | CA414858521 | RPS4Y2 | c.179A>T (p.Glu60Val) c.128A>T (p.Glu43Val) | |
| Y | g.20759966G>A | CA520176560 | RPS4Y2 | c.180G>A (p.Glu60=) c.129G>A (p.Glu43=) | |
| Y | g.20759966G>C | CA414858523 | RPS4Y2 | c.180G>C (p.Glu60Asp) c.129G>C (p.Glu43Asp) | |
| Y | g.20759966G>T | CA414858524 | RPS4Y2 | c.180G>T (p.Glu60Asp) c.129G>T (p.Glu43Asp) | |
| Y | g.20759967G>A | CA414858526 | RPS4Y2 | c.181G>A (p.Val61Ile) c.130G>A (p.Val44Ile) | |
| Y | g.20759967G>C | CA414858528 | RPS4Y2 | c.181G>C (p.Val61Leu) c.130G>C (p.Val44Leu) | |
| Y | g.20759967G>T | CA414858530 | RPS4Y2 | c.181G>T (p.Val61Leu) c.130G>T (p.Val44Leu) | |
| Y | g.20759968T>A | CA414858533 | RPS4Y2 | c.182T>A (p.Val61Glu) c.131T>A (p.Val44Glu) | |
| Y | g.20759968T>C | CA414858534 | RPS4Y2 | c.182T>C (p.Val61Ala) c.131T>C (p.Val44Ala) | |
| Y | g.20759968T>G | CA414858536 | RPS4Y2 | c.182T>G (p.Val61Gly) c.131T>G (p.Val44Gly) | |
| Y | g.20759969A>C | CA520176570 | RPS4Y2 | c.183A>C (p.Val61=) c.132A>C (p.Val44=) | |
| Y | g.20759969A>G | CA520176574 | RPS4Y2 | c.183A>G (p.Val61=) c.132A>G (p.Val44=) | |
| Y | g.20759969A>T | CA520176572 | RPS4Y2 | c.183A>T (p.Val61=) c.132A>T (p.Val44=) | |
| Y | g.20759971del | CA2766256513 | RPS4Y2 | c.185del (p.Lys62ArgfsTer26) c.134del (p.Lys45ArgfsTer26) | |
| Y | g.20759970A>C | CA414858538 | RPS4Y2 | c.184A>C (p.Lys62Gln) c.133A>C (p.Lys45Gln) | |
| Y | g.20759970A>G | CA414858540 | RPS4Y2 | c.184A>G (p.Lys62Glu) c.133A>G (p.Lys45Glu) | |
| Y | g.20759970A>T | CA414858541 | RPS4Y2 | c.184A>T (p.Lys62Ter) c.133A>T (p.Lys45Ter) | |
| Y | g.20759971A>C | CA414858544 | RPS4Y2 | c.185A>C (p.Lys62Thr) c.134A>C (p.Lys45Thr) | |
| Y | g.20759971A>G | CA414858545 | RPS4Y2 | c.185A>G (p.Lys62Arg) c.134A>G (p.Lys45Arg) | |
| Y | g.20759971A>T | CA414858547 | RPS4Y2 | c.185A>T (p.Lys62Met) c.134A>T (p.Lys45Met) | |
| Y | g.20759972G>A | CA520176583 | RPS4Y2 | c.186G>A (p.Lys62=) c.135G>A (p.Lys45=) | |
| Y | g.20759972G>C | CA414858551 | RPS4Y2 | c.186G>C (p.Lys62Asn) c.135G>C (p.Lys45Asn) | |
| Y | g.20759972G>T | CA414858549 | RPS4Y2 | c.186G>T (p.Lys62Asn) c.135G>T (p.Lys45Asn) | |
| Y | g.20759973A>C | CA414858553 | RPS4Y2 | c.187A>C (p.Lys63Gln) c.136A>C (p.Lys46Gln) | |
| Y | g.20759973A>G | CA414858554 | RPS4Y2 | c.187A>G (p.Lys63Glu) c.136A>G (p.Lys46Glu) | |
| Y | g.20759973A>T | CA414858556 | RPS4Y2 | c.187A>T (p.Lys63Ter) c.136A>T (p.Lys46Ter) | |
| Y | g.20759974A>C | CA414858558 | RPS4Y2 | c.188A>C (p.Lys63Thr) c.137A>C (p.Lys46Thr) | |
| Y | g.20759974A>G | CA414858560 | RPS4Y2 | c.188A>G (p.Lys63Arg) c.137A>G (p.Lys46Arg) | |
| Y | g.20759974A>T | CA414858562 | RPS4Y2 | c.188A>T (p.Lys63Met) c.137A>T (p.Lys46Met) | |
| Y | g.20759975G>A | CA520176593 | RPS4Y2 | c.189G>A (p.Lys63=) c.138G>A (p.Lys46=) | |
| Y | g.20759975G>C | CA414858564 | RPS4Y2 | c.189G>C (p.Lys63Asn) c.138G>C (p.Lys46Asn) | |
| Y | g.20759975G>T | CA414858565 | RPS4Y2 | c.189G>T (p.Lys63Asn) c.138G>T (p.Lys46Asn) | |
| Y | g.20759976A= | CA2471054499 | RPS4Y2 | c.190A= (p.Ile64=) c.139A= (p.Ile47=) | |
| Y | g.20759976A>C | CA414858567 | RPS4Y2 | c.190A>C (p.Ile64Leu) c.139A>C (p.Ile47Leu) | |
| Y | g.20759976A>G | CA414858569 | RPS4Y2 | c.190A>G (p.Ile64Val) c.139A>G (p.Ile47Val) | |
| Y | g.20759976A>T | CA337511150 | RPS4Y2 | c.190A>T (p.Ile64Leu) c.139A>T (p.Ile47Leu) | dbSNP |
| Y | g.20759977T>A | CA414858573 | RPS4Y2 | c.191T>A (p.Ile64Lys) c.140T>A (p.Ile47Lys) | |
| Y | g.20759977T>C | CA10575190 | RPS4Y2 | c.191T>C (p.Ile64Thr) c.140T>C (p.Ile47Thr) | dbSNP ExAC gnomAD v2 |
| Y | g.20759977T>G | CA414858574 | RPS4Y2 | c.191T>G (p.Ile64Arg) c.140T>G (p.Ile47Arg) | |
| Y | g.20759977T= | CA2471054500 | RPS4Y2 | c.191T= (p.Ile64=) c.140T= (p.Ile47=) | |
| Y | g.20759978A>C | CA520176602 | RPS4Y2 | c.192A>C (p.Ile64=) c.141A>C (p.Ile47=) | |
| Y | g.20759978A>G | CA414858577 | RPS4Y2 | c.192A>G (p.Ile64Met) c.141A>G (p.Ile47Met) | |
| Y | g.20759978A>T | CA520176605 | RPS4Y2 | c.192A>T (p.Ile64=) c.141A>T (p.Ile47=) | |
| Y | g.20759979T>A | CA414858582 | RPS4Y2 | c.193T>A (p.Cys65Ser) c.142T>A (p.Cys48Ser) | |
| Y | g.20759979T>C | CA414858580 | RPS4Y2 | c.193T>C (p.Cys65Arg) c.142T>C (p.Cys48Arg) | |
| Y | g.20759979T>G | CA414858584 | RPS4Y2 | c.193T>G (p.Cys65Gly) c.142T>G (p.Cys48Gly) | dbSNP gnomAD v2 |
| Y | g.20759979T= | CA2471054501 | RPS4Y2 | c.193T= (p.Cys65=) c.142T= (p.Cys48=) | |
| Y | g.20759980G>A | CA414858586 | RPS4Y2 | c.194G>A (p.Cys65Tyr) c.143G>A (p.Cys48Tyr) | |
| Y | g.20759980G>C | CA414858587 | RPS4Y2 | c.194G>C (p.Cys65Ser) c.143G>C (p.Cys48Ser) | |
| Y | g.20759980G>T | CA414858589 | RPS4Y2 | c.194G>T (p.Cys65Phe) c.143G>T (p.Cys48Phe) | |
| Y | g.20759981T>A | CA414858591 | RPS4Y2 | c.195T>A (p.Cys65Ter) c.144T>A (p.Cys48Ter) | |
| Y | g.20759981T>C | CA520176615 | RPS4Y2 | c.195T>C (p.Cys65=) c.144T>C (p.Cys48=) | |
| Y | g.20759981T>G | CA414858593 | RPS4Y2 | c.195T>G (p.Cys65Trp) c.144T>G (p.Cys48Trp) | |
| Y | g.20759982A= | CA2471054502 | RPS4Y2 | c.196A= (p.Met66=) c.145A= (p.Met49=) | |
| Y | g.20759982A>C | CA414858595 | RPS4Y2 | c.196A>C (p.Met66Leu) c.145A>C (p.Met49Leu) | |
| Y | g.20759982A>G | CA10575191 | RPS4Y2 | c.196A>G (p.Met66Val) c.145A>G (p.Met49Val) | dbSNP ExAC gnomAD v2 |
| Y | g.20759982A>T | CA414858598 | RPS4Y2 | c.196A>T (p.Met66Leu) c.145A>T (p.Met49Leu) | |
| Y | g.20759983T>A | CA10575192 | RPS4Y2 | c.197T>A (p.Met66Lys) c.146T>A (p.Met49Lys) | dbSNP ExAC gnomAD v2 |
| Y | g.20759983T>C | CA414858600 | RPS4Y2 | c.197T>C (p.Met66Thr) c.146T>C (p.Met49Thr) | |
| Y | g.20759983T>G | CA414858602 | RPS4Y2 | c.197T>G (p.Met66Arg) c.146T>G (p.Met49Arg) | |
| Y | g.20759983T= | CA2471054503 | RPS4Y2 | c.197T= (p.Met66=) c.146T= (p.Met49=) | |
| Y | g.20759984G>A | CA414858608 | RPS4Y2 | c.198G>A (p.Met66Ile) c.147G>A (p.Met49Ile) | |
| Y | g.20759984G>C | CA414858604 | RPS4Y2 | c.198G>C (p.Met66Ile) c.147G>C (p.Met49Ile) | |
| Y | g.20759984G>T | CA414858606 | RPS4Y2 | c.198G>T (p.Met66Ile) c.147G>T (p.Met49Ile) | |
| Y | g.20759985del | CA2579749854 | RPS4Y2 | c.199del (p.Gln67AsnfsTer21) c.148del (p.Gln50AsnfsTer21) | |
| Y | g.20759985C>A | CA414858610 | RPS4Y2 | c.199C>A (p.Gln67Lys) c.148C>A (p.Gln50Lys) | |
| Y | g.20759985C>G | CA414858612 | RPS4Y2 | c.199C>G (p.Gln67Glu) c.148C>G (p.Gln50Glu) | |
| Y | g.20759985C>T | CA414858614 | RPS4Y2 | c.199C>T (p.Gln67Ter) c.148C>T (p.Gln50Ter) | |
| Y | g.20759986A>C | CA414858616 | RPS4Y2 | c.200A>C (p.Gln67Pro) c.149A>C (p.Gln50Pro) | |
| Y | g.20759986A>G | CA414858617 | RPS4Y2 | c.200A>G (p.Gln67Arg) c.149A>G (p.Gln50Arg) | |
| Y | g.20759986A>T | CA414858618 | RPS4Y2 | c.200A>T (p.Gln67Leu) c.149A>T (p.Gln50Leu) | |
| Y | g.20759987A>C | CA414858620 | RPS4Y2 | c.201A>C (p.Gln67His) c.150A>C (p.Gln50His) | |
| Y | g.20759987A>G | CA520176635 | RPS4Y2 | c.201A>G (p.Gln67=) c.150A>G (p.Gln50=) | |
| Y | g.20759987A>T | CA414858622 | RPS4Y2 | c.201A>T (p.Gln67His) c.150A>T (p.Gln50His) | |
| Y | g.20759988C>A | CA414858624 | RPS4Y2 | c.202C>A (p.His68Asn) c.151C>A (p.His51Asn) | |
| Y | g.20759988C>G | CA414858626 | RPS4Y2 | c.202C>G (p.His68Asp) c.151C>G (p.His51Asp) | |
| Y | g.20759988C>T | CA414858627 | RPS4Y2 | c.202C>T (p.His68Tyr) c.151C>T (p.His51Tyr) | |
| Y | g.20759989A>C | CA414858633 | RPS4Y2 | c.203A>C (p.His68Pro) c.152A>C (p.His51Pro) | |
| Y | g.20759989A>G | CA414858632 | RPS4Y2 | c.203A>G (p.His68Arg) c.152A>G (p.His51Arg) | |
| Y | g.20759989A>T | CA414858630 | RPS4Y2 | c.203A>T (p.His68Leu) c.152A>T (p.His51Leu) | |
| Y | g.20759990C>A | CA414858637 | RPS4Y2 | c.204C>A (p.His68Gln) c.153C>A (p.His51Gln) | |
| Y | g.20759990C>G | CA414858636 | RPS4Y2 | c.204C>G (p.His68Gln) c.153C>G (p.His51Gln) | |
| Y | g.20759990C>T | CA520176645 | RPS4Y2 | c.204C>T (p.His68=) c.153C>T (p.His51=) | |
| Y | g.20759991T>A | CA414858639 | RPS4Y2 | c.205T>A (p.Phe69Ile) c.154T>A (p.Phe52Ile) | |
| Y | g.20759991T>C | CA414858641 | RPS4Y2 | c.205T>C (p.Phe69Leu) c.154T>C (p.Phe52Leu) | |
| Y | g.20759991T>G | CA10575193 | RPS4Y2 | c.205T>G (p.Phe69Val) c.154T>G (p.Phe52Val) | dbSNP ExAC gnomAD v2 |
| Y | g.20759991T= | CA2471054504 | RPS4Y2 | c.205T= (p.Phe69=) c.154T= (p.Phe52=) | |
| Y | g.20759992T>A | CA414858644 | RPS4Y2 | c.206T>A (p.Phe69Tyr) c.155T>A (p.Phe52Tyr) | |
| Y | g.20759992T>C | CA414858646 | RPS4Y2 | c.206T>C (p.Phe69Ser) c.155T>C (p.Phe52Ser) | |
| Y | g.20759992T>G | CA414858648 | RPS4Y2 | c.206T>G (p.Phe69Cys) c.155T>G (p.Phe52Cys) | |
| Y | g.20759993C>A | CA414858650 | RPS4Y2 | c.207C>A (p.Phe69Leu) c.156C>A (p.Phe52Leu) | |
| Y | g.20759993C>G | CA414858652 | RPS4Y2 | c.207C>G (p.Phe69Leu) c.156C>G (p.Phe52Leu) | |
| Y | g.20759993C>T | CA520176655 | RPS4Y2 | c.207C>T (p.Phe69=) c.156C>T (p.Phe52=) | |
| Y | g.20759994C>A | CA414858653 | RPS4Y2 | c.208C>A (p.Leu70Ile) c.157C>A (p.Leu53Ile) | |
| Y | g.20759994C>G | CA414858654 | RPS4Y2 | c.208C>G (p.Leu70Val) c.157C>G (p.Leu53Val) | |
| Y | g.20759994C>T | CA414858656 | RPS4Y2 | c.208C>T (p.Leu70Phe) c.157C>T (p.Leu53Phe) | |
| Y | g.20759995T>A | CA414858662 | RPS4Y2 | c.209T>A (p.Leu70His) c.158T>A (p.Leu53His) | |
| Y | g.20759995T>C | CA414858658 | RPS4Y2 | c.209T>C (p.Leu70Pro) c.158T>C (p.Leu53Pro) | |
| Y | g.20759995T>G | CA414858660 | RPS4Y2 | c.209T>G (p.Leu70Arg) c.158T>G (p.Leu53Arg) | |
| Y | g.20759996C>A | CA520176665 | RPS4Y2 | c.210C>A (p.Leu70=) c.159C>A (p.Leu53=) | |
| Y | g.20759996C>G | CA520176669 | RPS4Y2 | c.210C>G (p.Leu70=) c.159C>G (p.Leu53=) | |
| Y | g.20759996C>T | CA520176667 | RPS4Y2 | c.210C>T (p.Leu70=) c.159C>T (p.Leu53=) | |
| Y | g.20759997A>C | CA414858664 | RPS4Y2 | c.211A>C (p.Lys71Gln) c.160A>C (p.Lys54Gln) | |
| Y | g.20759997A>G | CA414858665 | RPS4Y2 | c.211A>G (p.Lys71Glu) c.160A>G (p.Lys54Glu) | |
| Y | g.20759997A>T | CA414858667 | RPS4Y2 | c.211A>T (p.Lys71Ter) c.160A>T (p.Lys54Ter) | |
| Y | g.20759998A>C | CA414858670 | RPS4Y2 | c.212A>C (p.Lys71Thr) c.161A>C (p.Lys54Thr) | |
| Y | g.20759998A>G | CA414858671 | RPS4Y2 | c.212A>G (p.Lys71Arg) c.161A>G (p.Lys54Arg) | |
| Y | g.20759998A>T | CA414858673 | RPS4Y2 | c.212A>T (p.Lys71Ile) c.161A>T (p.Lys54Ile) | |
| Y | g.20759999A>C | CA414858675 | RPS4Y2 | c.213A>C (p.Lys71Asn) c.162A>C (p.Lys54Asn) | |
| Y | g.20759999A>G | CA520176678 | RPS4Y2 | c.213A>G (p.Lys71=) c.162A>G (p.Lys54=) | |
| Y | g.20759999A>T | CA414858677 | RPS4Y2 | c.213A>T (p.Lys71Asn) c.162A>T (p.Lys54Asn) | |
| Y | g.20760000A>C | CA414858680 | RPS4Y2 | c.214A>C (p.Ile72Leu) c.163A>C (p.Ile55Leu) | |
| Y | g.20760000A>G | CA414858681 | RPS4Y2 | c.214A>G (p.Ile72Val) c.163A>G (p.Ile55Val) | |
| Y | g.20760000A>T | CA414858683 | RPS4Y2 | c.214A>T (p.Ile72Phe) c.163A>T (p.Ile55Phe) | |
| Y | g.20760001T>A | CA414858687 | RPS4Y2 | c.215T>A (p.Ile72Asn) c.164T>A (p.Ile55Asn) | |
| Y | g.20760001T>C | CA414858689 | RPS4Y2 | c.215T>C (p.Ile72Thr) c.164T>C (p.Ile55Thr) | |
| Y | g.20760001T>G | CA414858686 | RPS4Y2 | c.215T>G (p.Ile72Ser) c.164T>G (p.Ile55Ser) | |
| Y | g.20760002T>A | CA520176687 | RPS4Y2 | c.216T>A (p.Ile72=) c.165T>A (p.Ile55=) | |
| Y | g.20760002T>C | CA10575194 | RPS4Y2 | c.216T>C (p.Ile72=) c.165T>C (p.Ile55=) | dbSNP ExAC gnomAD v2 |
| Y | g.20760002T>G | CA414858692 | RPS4Y2 | c.216T>G (p.Ile72Met) c.165T>G (p.Ile55Met) | |
| Y | g.20760002T= | CA2471054505 | RPS4Y2 | c.216T= (p.Ile72=) c.165T= (p.Ile55=) | |
| Y | g.20760003G>A | CA414858695 | RPS4Y2 | c.217G>A (p.Asp73Asn) c.166G>A (p.Asp56Asn) | |
| Y | g.20760003G>C | CA414858697 | RPS4Y2 | c.217G>C (p.Asp73His) c.166G>C (p.Asp56His) | |
| Y | g.20760003G>T | CA414858698 | RPS4Y2 | c.217G>T (p.Asp73Tyr) c.166G>T (p.Asp56Tyr) |