| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.2866737_2866739del | CA2766267213 | RPS4Y1 | c.691-56_691-54del (n.691-56_691-54del) c.718-56_718-54del (n.718-56_718-54del) n.835-56_835-54del n.42+11966_42+11968del | |
| Y | g.2866735T>C | CA337440494 | RPS4Y1 | c.691-58T>C (n.691-58T>C) c.718-58T>C (n.718-58T>C) n.835-58T>C n.42+11964T>C | dbSNP |
| Y | g.2866735T= | CA2469664074 | RPS4Y1 | c.691-58T= (n.691-58T=) c.718-58T= (n.718-58T=) n.835-58T= n.42+11964T= | |
| Y | g.2866743C>G | CA2766267214 | RPS4Y1 | c.691-50C>G (n.691-50C>G) c.718-50C>G (n.718-50C>G) n.835-50C>G n.42+11972C>G | |
| Y | g.2866743C>T | CA2766267215 | RPS4Y1 | c.691-50C>T (n.691-50C>T) c.718-50C>T (n.718-50C>T) n.835-50C>T n.42+11972C>T | |
| Y | g.2866744T>A | CA2824363290 | RPS4Y1 | c.691-49T>A (n.691-49T>A) c.718-49T>A (n.718-49T>A) n.835-49T>A n.42+11973T>A | |
| Y | g.2866745C>A | CA2579746323 | RPS4Y1 | c.691-48C>A (n.691-48C>A) c.718-48C>A (n.718-48C>A) n.835-48C>A n.42+11974C>A | |
| Y | g.2866747C>A | CA2579746324 | RPS4Y1 | c.691-46C>A (n.691-46C>A) c.718-46C>A (n.718-46C>A) n.835-46C>A n.42+11976C>A | |
| Y | g.2866749T>C | CA2766267216 | RPS4Y1 | c.691-44T>C (n.691-44T>C) c.718-44T>C (n.718-44T>C) n.835-44T>C n.42+11978T>C | |
| Y | g.2866752C>A | CA2824363291 | RPS4Y1 | c.691-41C>A (n.691-41C>A) c.718-41C>A (n.718-41C>A) n.835-41C>A n.42+11981C>A | |
| Y | g.2866752C>G | CA2766267217 | RPS4Y1 | c.691-41C>G (n.691-41C>G) c.718-41C>G (n.718-41C>G) n.835-41C>G n.42+11981C>G | |
| Y | g.2866758_2866761del | CA2579746325 | RPS4Y1 | c.691-35_691-32del (n.691-35_691-32del) c.718-35_718-32del (n.718-35_718-32del) n.835-35_835-32del n.42+11987_42+11990del | |
| Y | g.2866755T>C | CA10571325 | RPS4Y1 | c.691-38T>C (n.691-38T>C) c.718-38T>C (n.718-38T>C) n.835-38T>C n.42+11984T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.2866755T= | CA2469664075 | RPS4Y1 | c.691-38T= (n.691-38T=) c.718-38T= (n.718-38T=) n.835-38T= n.42+11984T= | |
| Y | g.2866760C>A | CA2579746327 | RPS4Y1 | c.691-33C>A (n.691-33C>A) c.718-33C>A (n.718-33C>A) n.835-33C>A n.42+11989C>A | |
| Y | g.2866760C>G | CA2579746326 | RPS4Y1 | c.691-33C>G (n.691-33C>G) c.718-33C>G (n.718-33C>G) n.835-33C>G n.42+11989C>G | |
| Y | g.2866763T>C | CA2766267218 | RPS4Y1 | c.691-30T>C (n.691-30T>C) c.718-30T>C (n.718-30T>C) n.835-30T>C n.42+11992T>C | |
| Y | g.2866765C>A | CA2766267219 | RPS4Y1 | c.691-28C>A (n.691-28C>A) c.718-28C>A (n.718-28C>A) n.835-28C>A n.42+11994C>A | |
| Y | g.2866765C>T | CA2766267220 | RPS4Y1 | c.691-28C>T (n.691-28C>T) c.718-28C>T (n.718-28C>T) n.835-28C>T n.42+11994C>T | |
| Y | g.2866767T= | CA2469664076 | RPS4Y1 | c.691-26T= (n.691-26T=) c.718-26T= (n.718-26T=) n.835-26T= n.42+11996T= | |
| Y | g.2866768dup | CA10571326 | RPS4Y1 | c.691-25dup (n.691-25dup) c.718-25dup (n.718-25dup) n.835-25dup n.42+11997dup | dbSNP ExAC gnomAD v2 |
| Y | g.2866769C>A | CA10571327 | RPS4Y1 | c.691-24C>A (n.691-24C>A) c.718-24C>A (n.718-24C>A) n.835-24C>A n.42+11998C>A | dbSNP ExAC gnomAD v2 |
| Y | g.2866769C= | CA2469664077 | RPS4Y1 | c.691-24C= (n.691-24C=) c.718-24C= (n.718-24C=) n.835-24C= n.42+11998C= | |
| Y | g.2866769C>T | CA2766267221 | RPS4Y1 | c.691-24C>T (n.691-24C>T) c.718-24C>T (n.718-24C>T) n.835-24C>T n.42+11998C>T | |
| Y | g.2866770T>C | CA2766267222 | RPS4Y1 | c.691-23T>C (n.691-23T>C) c.718-23T>C (n.718-23T>C) n.835-23T>C n.42+11999T>C | |
| Y | g.2866774A>G | CA2766267223 | RPS4Y1 | c.691-19A>G (n.691-19A>G) c.718-19A>G (n.718-19A>G) n.835-19A>G n.42+12003A>G | |
| Y | g.2866774A>T | CA2766267224 | RPS4Y1 | c.691-19A>T (n.691-19A>T) c.718-19A>T (n.718-19A>T) n.835-19A>T n.42+12003A>T | |
| Y | g.2866777T>G | CA2766267225 | RPS4Y1 | c.691-16T>G (n.691-16T>G) c.718-16T>G (n.718-16T>G) n.835-16T>G n.42+12006T>G | |
| Y | g.2866777_2866778delinsTC | CA2469664078 | RPS4Y1 | c.691-16_691-15delinsTC (n.691-16_691-15delinsTC) c.718-16_718-15delinsTC (n.718-16_718-15delinsTC) n.835-16_835-15delinsTC n.42+12006_42+12007delinsTC | |
| Y | g.2866779del | CA645285378 | RPS4Y1 | c.691-14del (n.691-14del) c.718-14del (n.718-14del) n.835-14del n.42+12008del | dbSNP gnomAD v2 |
| Y | g.2866781C>G | CA2766267226 | RPS4Y1 | c.691-12C>G (n.691-12C>G) c.718-12C>G (n.718-12C>G) n.835-12C>G n.42+12010C>G | |
| Y | g.2866785T>A | CA2546607989 | RPS4Y1 | c.691-8T>A (n.691-8T>A) c.718-8T>A (n.718-8T>A) n.835-8T>A n.42+12014T>A | |
| Y | g.2866791A>C | CA414947214 | RPS4Y1 | c.691-2A>C (n.691-2A>C) c.718-2A>C (n.718-2A>C) n.835-2A>C n.42+12020A>C | |
| Y | g.2866791A>G | CA414947215 | RPS4Y1 | c.691-2A>G (n.691-2A>G) c.718-2A>G (n.718-2A>G) n.835-2A>G n.42+12020A>G | |
| Y | g.2866791A>T | CA414947218 | RPS4Y1 | c.691-2A>T (n.691-2A>T) c.718-2A>T (n.718-2A>T) n.835-2A>T n.42+12020A>T | |
| Y | g.2866792G>A | CA414947222 | RPS4Y1 | c.691-1G>A (n.691-1G>A) c.718-1G>A (n.718-1G>A) n.835-1G>A n.42+12021G>A | |
| Y | g.2866792G>C | CA414947224 | RPS4Y1 | c.691-1G>C (n.691-1G>C) c.718-1G>C (n.718-1G>C) n.835-1G>C n.42+12021G>C | |
| Y | g.2866792G>T | CA414947220 | RPS4Y1 | c.691-1G>T (n.691-1G>T) c.718-1G>T (n.718-1G>T) n.835-1G>T n.42+12021G>T | |
| Y | g.2866793G>A | CA414947226 | RPS4Y1 | c.691G>A (p.Gly231Ser) c.718G>A (p.Gly240Ser) n.835G>A n.42+12022G>A | |
| Y | g.2866793G>C | CA414947228 | RPS4Y1 | c.691G>C (p.Gly231Arg) c.718G>C (p.Gly240Arg) n.835G>C n.42+12022G>C | |
| Y | g.2866793G>T | CA414947230 | RPS4Y1 | c.691G>T (p.Gly231Cys) c.718G>T (p.Gly240Cys) n.835G>T n.42+12022G>T | |
| Y | g.2866794G>A | CA414947232 | RPS4Y1 | c.692G>A (p.Gly231Asp) c.719G>A (p.Gly240Asp) n.836G>A n.42+12023G>A | |
| Y | g.2866794G>C | CA414947234 | RPS4Y1 | c.692G>C (p.Gly231Ala) c.719G>C (p.Gly240Ala) n.836G>C n.42+12023G>C | |
| Y | g.2866794G>T | CA414947236 | RPS4Y1 | c.692G>T (p.Gly231Val) c.719G>T (p.Gly240Val) n.836G>T n.42+12023G>T | |
| Y | g.2866795C>A | CA519439297 | RPS4Y1 | c.693C>A (p.Gly231=) c.720C>A (p.Gly240=) n.837C>A n.42+12024C>A | |
| Y | g.2866795C>G | CA519439298 | RPS4Y1 | c.693C>G (p.Gly231=) c.720C>G (p.Gly240=) n.837C>G n.42+12024C>G | |
| Y | g.2866795C>T | CA519439296 | RPS4Y1 | c.693C>T (p.Gly231=) c.720C>T (p.Gly240=) n.837C>T n.42+12024C>T | |
| Y | g.2866796A>C | CA414947238 | RPS4Y1 | c.694A>C (p.Asn232His) c.721A>C (p.Asn241His) n.838A>C n.42+12025A>C | |
| Y | g.2866796A>G | CA414947240 | RPS4Y1 | c.694A>G (p.Asn232Asp) c.721A>G (p.Asn241Asp) n.838A>G n.42+12025A>G | |
| Y | g.2866796A>T | CA414947241 | RPS4Y1 | c.694A>T (p.Asn232Tyr) c.721A>T (p.Asn241Tyr) n.838A>T n.42+12025A>T | |
| Y | g.2866797A>C | CA414947244 | RPS4Y1 | c.695A>C (p.Asn232Thr) c.722A>C (p.Asn241Thr) n.839A>C n.42+12026A>C | |
| Y | g.2866797A>G | CA414947246 | RPS4Y1 | c.695A>G (p.Asn232Ser) c.722A>G (p.Asn241Ser) n.839A>G n.42+12026A>G | |
| Y | g.2866797A>T | CA414947247 | RPS4Y1 | c.695A>T (p.Asn232Ile) c.722A>T (p.Asn241Ile) n.839A>T n.42+12026A>T | |
| Y | g.2866798T>A | CA414947251 | RPS4Y1 | c.696T>A (p.Asn232Lys) c.723T>A (p.Asn241Lys) n.840T>A n.42+12027T>A | |
| Y | g.2866798T>C | CA519439299 | RPS4Y1 | c.696T>C (p.Asn232=) c.723T>C (p.Asn241=) n.840T>C n.42+12027T>C | |
| Y | g.2866798T>G | CA414947249 | RPS4Y1 | c.696T>G (p.Asn232Lys) c.723T>G (p.Asn241Lys) n.840T>G n.42+12027T>G | |
| Y | g.2866799A>C | CA414947253 | RPS4Y1 | c.697A>C (p.Lys233Gln) c.724A>C (p.Lys242Gln) n.841A>C n.42+12028A>C | |
| Y | g.2866799A>G | CA414947255 | RPS4Y1 | c.697A>G (p.Lys233Glu) c.724A>G (p.Lys242Glu) n.841A>G n.42+12028A>G | |
| Y | g.2866799A>T | CA414947257 | RPS4Y1 | c.697A>T (p.Lys233Ter) c.724A>T (p.Lys242Ter) n.841A>T n.42+12028A>T | |
| Y | g.2866800A>C | CA414947259 | RPS4Y1 | c.698A>C (p.Lys233Thr) c.725A>C (p.Lys242Thr) n.842A>C n.42+12029A>C | |
| Y | g.2866800A>G | CA414947261 | RPS4Y1 | c.698A>G (p.Lys233Arg) c.725A>G (p.Lys242Arg) n.842A>G n.42+12029A>G | |
| Y | g.2866800A>T | CA414947263 | RPS4Y1 | c.698A>T (p.Lys233Ile) c.725A>T (p.Lys242Ile) n.842A>T n.42+12029A>T | |
| Y | g.2866801A>C | CA414947265 | RPS4Y1 | c.699A>C (p.Lys233Asn) c.726A>C (p.Lys242Asn) n.843A>C n.42+12030A>C | |
| Y | g.2866801A>G | CA519439300 | RPS4Y1 | c.699A>G (p.Lys233=) c.726A>G (p.Lys242=) n.843A>G n.42+12030A>G | |
| Y | g.2866801A>T | CA414947267 | RPS4Y1 | c.699A>T (p.Lys233Asn) c.726A>T (p.Lys242Asn) n.843A>T n.42+12030A>T | |
| Y | g.2866802C>A | CA414947269 | RPS4Y1 | c.700C>A (p.Pro234Thr) c.727C>A (p.Pro243Thr) n.844C>A n.42+12031C>A | |
| Y | g.2866802C>G | CA414947271 | RPS4Y1 | c.700C>G (p.Pro234Ala) c.727C>G (p.Pro243Ala) n.844C>G n.42+12031C>G | |
| Y | g.2866802C>T | CA414947273 | RPS4Y1 | c.700C>T (p.Pro234Ser) c.727C>T (p.Pro243Ser) n.844C>T n.42+12031C>T | |
| Y | g.2866803C>A | CA414947275 | RPS4Y1 | c.701C>A (p.Pro234His) c.728C>A (p.Pro243His) n.845C>A n.42+12032C>A | |
| Y | g.2866803C>G | CA414947277 | RPS4Y1 | c.701C>G (p.Pro234Arg) c.728C>G (p.Pro243Arg) n.845C>G n.42+12032C>G | |
| Y | g.2866803C>T | CA414947279 | RPS4Y1 | c.701C>T (p.Pro234Leu) c.728C>T (p.Pro243Leu) n.845C>T n.42+12032C>T | |
| Y | g.2866804T>A | CA519439301 | RPS4Y1 | c.702T>A (p.Pro234=) c.729T>A (p.Pro243=) n.846T>A n.42+12033T>A | |
| Y | g.2866804T>C | CA519439302 | RPS4Y1 | c.702T>C (p.Pro234=) c.729T>C (p.Pro243=) n.846T>C n.42+12033T>C | |
| Y | g.2866804T>G | CA519439303 | RPS4Y1 | c.702T>G (p.Pro234=) c.729T>G (p.Pro243=) n.846T>G n.42+12033T>G | |
| Y | g.2866805T>A | CA414947285 | RPS4Y1 | c.703T>A (p.Trp235Arg) c.730T>A (p.Trp244Arg) n.847T>A n.42+12034T>A | |
| Y | g.2866805T>C | CA414947283 | RPS4Y1 | c.703T>C (p.Trp235Arg) c.730T>C (p.Trp244Arg) n.847T>C n.42+12034T>C | |
| Y | g.2866805T>G | CA414947281 | RPS4Y1 | c.703T>G (p.Trp235Gly) c.730T>G (p.Trp244Gly) n.847T>G n.42+12034T>G | |
| Y | g.2866806G>A | CA414947290 | RPS4Y1 | c.704G>A (p.Trp235Ter) c.731G>A (p.Trp244Ter) n.848G>A n.42+12035G>A | |
| Y | g.2866806G>C | CA414947288 | RPS4Y1 | c.704G>C (p.Trp235Ser) c.731G>C (p.Trp244Ser) n.848G>C n.42+12035G>C | |
| Y | g.2866806G>T | CA414947292 | RPS4Y1 | c.704G>T (p.Trp235Leu) c.731G>T (p.Trp244Leu) n.848G>T n.42+12035G>T | |
| Y | g.2866807G>A | CA414947294 | RPS4Y1 | c.705G>A (p.Trp235Ter) c.732G>A (p.Trp244Ter) n.849G>A n.42+12036G>A | |
| Y | g.2866807G>C | CA414947298 | RPS4Y1 | c.705G>C (p.Trp235Cys) c.732G>C (p.Trp244Cys) n.849G>C n.42+12036G>C | |
| Y | g.2866807G>T | CA414947296 | RPS4Y1 | c.705G>T (p.Trp235Cys) c.732G>T (p.Trp244Cys) n.849G>T n.42+12036G>T | |
| Y | g.2866808A>C | CA414947300 | RPS4Y1 | c.706A>C (p.Ile236Leu) c.733A>C (p.Ile245Leu) n.850A>C n.42+12037A>C | |
| Y | g.2866808A>G | CA414947302 | RPS4Y1 | c.706A>G (p.Ile236Val) c.733A>G (p.Ile245Val) n.850A>G n.42+12037A>G | |
| Y | g.2866808A>T | CA414947303 | RPS4Y1 | c.706A>T (p.Ile236Phe) c.733A>T (p.Ile245Phe) n.850A>T n.42+12037A>T | |
| Y | g.2866809T>A | CA414947305 | RPS4Y1 | c.707T>A (p.Ile236Asn) c.734T>A (p.Ile245Asn) n.851T>A n.42+12038T>A | |
| Y | g.2866809T>C | CA414947306 | RPS4Y1 | c.707T>C (p.Ile236Thr) c.734T>C (p.Ile245Thr) n.851T>C n.42+12038T>C | |
| Y | g.2866809T>G | CA414947307 | RPS4Y1 | c.707T>G (p.Ile236Ser) c.734T>G (p.Ile245Ser) n.851T>G n.42+12038T>G | |
| Y | g.2866810T>A | CA519439304 | RPS4Y1 | c.708T>A (p.Ile236=) c.735T>A (p.Ile245=) n.852T>A n.42+12039T>A | |
| Y | g.2866810T>C | CA519439305 | RPS4Y1 | c.708T>C (p.Ile236=) c.735T>C (p.Ile245=) n.852T>C n.42+12039T>C | |
| Y | g.2866810T>G | CA414947309 | RPS4Y1 | c.708T>G (p.Ile236Met) c.735T>G (p.Ile245Met) n.852T>G n.42+12039T>G | |
| Y | g.2866811T>A | CA414947310 | RPS4Y1 | c.709T>A (p.Ser237Thr) c.736T>A (p.Ser246Thr) n.853T>A n.42+12040T>A | |
| Y | g.2866811T>C | CA414947311 | RPS4Y1 | c.709T>C (p.Ser237Pro) c.736T>C (p.Ser246Pro) n.853T>C n.42+12040T>C | |
| Y | g.2866811T>G | CA414947313 | RPS4Y1 | c.709T>G (p.Ser237Ala) c.736T>G (p.Ser246Ala) n.853T>G n.42+12040T>G | |
| Y | g.2866812C>A | CA414947319 | RPS4Y1 | c.710C>A (p.Ser237Tyr) c.737C>A (p.Ser246Tyr) n.854C>A n.42+12041C>A | |
| Y | g.2866812C>G | CA414947318 | RPS4Y1 | c.710C>G (p.Ser237Cys) c.737C>G (p.Ser246Cys) n.854C>G n.42+12041C>G | |
| Y | g.2866812C>T | CA414947316 | RPS4Y1 | c.710C>T (p.Ser237Phe) c.737C>T (p.Ser246Phe) n.854C>T n.42+12041C>T | |
| Y | g.2866813C>A | CA519439307 | RPS4Y1 | c.711C>A (p.Ser237=) c.738C>A (p.Ser246=) n.855C>A n.42+12042C>A | |
| Y | g.2866813C= | CA2469664079 | RPS4Y1 | c.711C= (p.Ser237=) c.738C= (p.Ser246=) n.855C= n.42+12042C= | |
| Y | g.2866813C>G | CA519439306 | RPS4Y1 | c.711C>G (p.Ser237=) c.738C>G (p.Ser246=) n.855C>G n.42+12042C>G | |
| Y | g.2866813C>T | CA10571328 | RPS4Y1 | c.711C>T (p.Ser237=) c.738C>T (p.Ser246=) n.855C>T n.42+12042C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.2866814C>A | CA414947323 | RPS4Y1 | c.712C>A (p.Leu238Met) c.739C>A (p.Leu247Met) n.856C>A n.42+12043C>A | |
| Y | g.2866814C>G | CA414947324 | RPS4Y1 | c.712C>G (p.Leu238Val) c.739C>G (p.Leu247Val) n.856C>G n.42+12043C>G | |
| Y | g.2866814C>T | CA519439308 | RPS4Y1 | c.712C>T (p.Leu238=) c.739C>T (p.Leu247=) n.856C>T n.42+12043C>T | |
| Y | g.2866815T>A | CA414947327 | RPS4Y1 | c.713T>A (p.Leu238Gln) c.740T>A (p.Leu247Gln) n.857T>A n.42+12044T>A | |
| Y | g.2866815T>C | CA414947328 | RPS4Y1 | c.713T>C (p.Leu238Pro) c.740T>C (p.Leu247Pro) n.857T>C n.42+12044T>C | |
| Y | g.2866815T>G | CA414947329 | RPS4Y1 | c.713T>G (p.Leu238Arg) c.740T>G (p.Leu247Arg) n.857T>G n.42+12044T>G | |
| Y | g.2866816G>A | CA519439310 | RPS4Y1 | c.714G>A (p.Leu238=) c.741G>A (p.Leu247=) n.858G>A n.42+12045G>A | |
| Y | g.2866816G>C | CA519439311 | RPS4Y1 | c.714G>C (p.Leu238=) c.741G>C (p.Leu247=) n.858G>C n.42+12045G>C | |
| Y | g.2866816G>T | CA519439309 | RPS4Y1 | c.714G>T (p.Leu238=) c.741G>T (p.Leu247=) n.858G>T n.42+12045G>T | |
| Y | g.2866817C>A | CA414947332 | RPS4Y1 | c.715C>A (p.Pro239Thr) c.742C>A (p.Pro248Thr) n.859C>A n.42+12046C>A | |
| Y | g.2866817C>G | CA414947334 | RPS4Y1 | c.715C>G (p.Pro239Ala) c.742C>G (p.Pro248Ala) n.859C>G n.42+12046C>G | |
| Y | g.2866817C>T | CA414947336 | RPS4Y1 | c.715C>T (p.Pro239Ser) c.742C>T (p.Pro248Ser) n.859C>T n.42+12046C>T | |
| Y | g.2866818C>A | CA414947338 | RPS4Y1 | c.716C>A (p.Pro239His) c.743C>A (p.Pro248His) n.860C>A n.42+12047C>A | |
| Y | g.2866818C>G | CA414947340 | RPS4Y1 | c.716C>G (p.Pro239Arg) c.743C>G (p.Pro248Arg) n.860C>G n.42+12047C>G | |
| Y | g.2866818C>T | CA414947342 | RPS4Y1 | c.716C>T (p.Pro239Leu) c.743C>T (p.Pro248Leu) n.860C>T n.42+12047C>T | |
| Y | g.2866819C>A | CA519439312 | RPS4Y1 | c.717C>A (p.Pro239=) c.744C>A (p.Pro248=) n.861C>A n.42+12048C>A | |
| Y | g.2866819C>G | CA519439313 | RPS4Y1 | c.717C>G (p.Pro239=) c.744C>G (p.Pro248=) n.861C>G n.42+12048C>G | |
| Y | g.2866819C>T | CA519439314 | RPS4Y1 | c.717C>T (p.Pro239=) c.744C>T (p.Pro248=) n.861C>T n.42+12048C>T | |
| Y | g.2866820A>C | CA519439315 | RPS4Y1 | c.718A>C (p.Arg240=) c.745A>C (p.Arg249=) n.862A>C n.42+12049A>C | |
| Y | g.2866820A>G | CA414947344 | RPS4Y1 | c.718A>G (p.Arg240Gly) c.745A>G (p.Arg249Gly) n.862A>G n.42+12049A>G | |
| Y | g.2866820A>T | CA414947347 | RPS4Y1 | c.718A>T (p.Arg240Trp) c.745A>T (p.Arg249Trp) n.862A>T n.42+12049A>T | |
| Y | g.2866821G>A | CA414947349 | RPS4Y1 | c.719G>A (p.Arg240Lys) c.746G>A (p.Arg249Lys) n.863G>A n.42+12050G>A | |
| Y | g.2866821G>C | CA414947351 | RPS4Y1 | c.719G>C (p.Arg240Thr) c.746G>C (p.Arg249Thr) n.863G>C n.42+12050G>C | |
| Y | g.2866821G>T | CA414947353 | RPS4Y1 | c.719G>T (p.Arg240Met) c.746G>T (p.Arg249Met) n.863G>T n.42+12050G>T | |
| Y | g.2866822G>A | CA519439316 | RPS4Y1 | c.720G>A (p.Arg240=) c.747G>A (p.Arg249=) n.864G>A n.42+12051G>A | |
| Y | g.2866822G>C | CA414947354 | RPS4Y1 | c.720G>C (p.Arg240Ser) c.747G>C (p.Arg249Ser) n.864G>C n.42+12051G>C | |
| Y | g.2866822G>T | CA414947356 | RPS4Y1 | c.720G>T (p.Arg240Ser) c.747G>T (p.Arg249Ser) n.864G>T n.42+12051G>T | |
| Y | g.2866823G>A | CA414947358 | RPS4Y1 | c.721G>A (p.Gly241Arg) c.748G>A (p.Gly250Arg) n.865G>A n.42+12052G>A | |
| Y | g.2866823G>C | CA414947359 | RPS4Y1 | c.721G>C (p.Gly241Arg) c.748G>C (p.Gly250Arg) n.865G>C n.42+12052G>C | |
| Y | g.2866823G>T | CA414947361 | RPS4Y1 | c.721G>T (p.Gly241Ter) c.748G>T (p.Gly250Ter) n.865G>T n.42+12052G>T | |
| Y | g.2866824G>A | CA414947364 | RPS4Y1 | c.722G>A (p.Gly241Glu) c.749G>A (p.Gly250Glu) n.866G>A n.42+12053G>A | |
| Y | g.2866824G>C | CA414947365 | RPS4Y1 | c.722G>C (p.Gly241Ala) c.749G>C (p.Gly250Ala) n.866G>C n.42+12053G>C | |
| Y | g.2866824G>T | CA414947367 | RPS4Y1 | c.722G>T (p.Gly241Val) c.749G>T (p.Gly250Val) n.866G>T n.42+12053G>T | |
| Y | g.2866825A>C | CA519439317 | RPS4Y1 | c.723A>C (p.Gly241=) c.750A>C (p.Gly250=) n.867A>C n.42+12054A>C | |
| Y | g.2866825A>G | CA519439318 | RPS4Y1 | c.723A>G (p.Gly241=) c.750A>G (p.Gly250=) n.867A>G n.42+12054A>G | |
| Y | g.2866825A>T | CA519439319 | RPS4Y1 | c.723A>T (p.Gly241=) c.750A>T (p.Gly250=) n.867A>T n.42+12054A>T | |
| Y | g.2866827del | CA2579746328 | RPS4Y1 | c.725del (p.Lys242ArgfsTer26) c.752del (p.Lys251ArgfsTer?) n.869del n.42+12056del | |
| Y | g.2866826A>C | CA414947373 | RPS4Y1 | c.724A>C (p.Lys242Gln) c.751A>C (p.Lys251Gln) n.868A>C n.42+12055A>C | |
| Y | g.2866826A>G | CA414947371 | RPS4Y1 | c.724A>G (p.Lys242Glu) c.751A>G (p.Lys251Glu) n.868A>G n.42+12055A>G | |
| Y | g.2866826A>T | CA414947369 | RPS4Y1 | c.724A>T (p.Lys242Ter) c.751A>T (p.Lys251Ter) n.868A>T n.42+12055A>T | |
| Y | g.2866827A>C | CA414947375 | RPS4Y1 | c.725A>C (p.Lys242Thr) c.752A>C (p.Lys251Thr) n.869A>C n.42+12056A>C | |
| Y | g.2866827A>G | CA414947377 | RPS4Y1 | c.725A>G (p.Lys242Arg) c.752A>G (p.Lys251Arg) n.869A>G n.42+12056A>G | |
| Y | g.2866827A>T | CA414947379 | RPS4Y1 | c.725A>T (p.Lys242Met) c.752A>T (p.Lys251Met) n.869A>T n.42+12056A>T | |
| Y | g.2866828G>A | CA519439320 | RPS4Y1 | c.726G>A (p.Lys242=) c.753G>A (p.Lys251=) n.870G>A n.42+12057G>A | |
| Y | g.2866828G>C | CA414947382 | RPS4Y1 | c.726G>C (p.Lys242Asn) c.753G>C (p.Lys251Asn) n.870G>C n.42+12057G>C | |
| Y | g.2866828G>T | CA414947384 | RPS4Y1 | c.726G>T (p.Lys242Asn) c.753G>T (p.Lys251Asn) n.870G>T n.42+12057G>T | |
| Y | g.2866829G>A | CA414947387 | RPS4Y1 | c.727G>A (p.Gly243Ser) c.754G>A (p.Gly252Ser) n.871G>A n.42+12058G>A | |
| Y | g.2866829G>C | CA414947389 | RPS4Y1 | c.727G>C (p.Gly243Arg) c.754G>C (p.Gly252Arg) n.871G>C n.42+12058G>C | |
| Y | g.2866829G>T | CA414947392 | RPS4Y1 | c.727G>T (p.Gly243Cys) c.754G>T (p.Gly252Cys) n.871G>T n.42+12058G>T | |
| Y | g.2866830G>A | CA414947398 | RPS4Y1 | c.728G>A (p.Gly243Asp) c.755G>A (p.Gly252Asp) n.872G>A n.42+12059G>A | |
| Y | g.2866830G>C | CA414947400 | RPS4Y1 | c.728G>C (p.Gly243Ala) c.755G>C (p.Gly252Ala) n.872G>C n.42+12059G>C | |
| Y | g.2866830G>T | CA414947401 | RPS4Y1 | c.728G>T (p.Gly243Val) c.755G>T (p.Gly252Val) n.872G>T n.42+12059G>T | |
| Y | g.2866831C>A | CA519439321 | RPS4Y1 | c.729C>A (p.Gly243=) c.756C>A (p.Gly252=) n.873C>A n.42+12060C>A | |
| Y | g.2866831C>G | CA519439322 | RPS4Y1 | c.729C>G (p.Gly243=) c.756C>G (p.Gly252=) n.873C>G n.42+12060C>G | |
| Y | g.2866831C>T | CA519439323 | RPS4Y1 | c.729C>T (p.Gly243=) c.756C>T (p.Gly252=) n.873C>T n.42+12060C>T | |
| Y | g.2866832A>C | CA414947407 | RPS4Y1 | c.730A>C (p.Ile244Leu) c.757A>C (p.Ile253Leu) n.874A>C n.42+12061A>C | |
| Y | g.2866832A>G | CA414947406 | RPS4Y1 | c.730A>G (p.Ile244Val) c.757A>G (p.Ile253Val) n.874A>G n.42+12061A>G | |
| Y | g.2866832A>T | CA414947404 | RPS4Y1 | c.730A>T (p.Ile244Phe) c.757A>T (p.Ile253Phe) n.874A>T n.42+12061A>T | |
| Y | g.2866833T>A | CA414947409 | RPS4Y1 | c.731T>A (p.Ile244Asn) c.758T>A (p.Ile253Asn) n.875T>A n.42+12062T>A | |
| Y | g.2866833T>C | CA414947413 | RPS4Y1 | c.731T>C (p.Ile244Thr) c.758T>C (p.Ile253Thr) n.875T>C n.42+12062T>C | |
| Y | g.2866833T>G | CA414947411 | RPS4Y1 | c.731T>G (p.Ile244Ser) c.758T>G (p.Ile253Ser) n.875T>G n.42+12062T>G | |
| Y | g.2866834T>A | CA519439324 | RPS4Y1 | c.732T>A (p.Ile244=) c.759T>A (p.Ile253=) n.876T>A n.42+12063T>A | |
| Y | g.2866834T>C | CA519439325 | RPS4Y1 | c.732T>C (p.Ile244=) c.759T>C (p.Ile253=) n.876T>C n.42+12063T>C | |
| Y | g.2866834T>G | CA414947415 | RPS4Y1 | c.732T>G (p.Ile244Met) c.759T>G (p.Ile253Met) n.876T>G n.42+12063T>G | |
| Y | g.2866835C>A | CA519439326 | RPS4Y1 | c.733C>A (p.Arg245=) c.760C>A (p.Arg254=) n.877C>A n.42+12064C>A | |
| Y | g.2866835C= | CA2469664080 | RPS4Y1 | c.733C= (p.Arg245=) c.760C= (p.Arg254=) n.877C= n.42+12064C= | |
| Y | g.2866835C>G | CA337440496 | RPS4Y1 | c.733C>G (p.Arg245Gly) c.760C>G (p.Arg254Gly) n.877C>G n.42+12064C>G | dbSNP |
| Y | g.2866835C>T | CA414947418 | RPS4Y1 | c.733C>T (p.Arg245Ter) c.760C>T (p.Arg254Ter) n.877C>T n.42+12064C>T |