| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.2866852A>C | CA414947475 | RPS4Y1 | c.750A>C (p.Glu250Asp) c.777A>C (p.Glu259Asp) n.894A>C n.42+12081A>C | |
| Y | g.2866852A>G | CA519439342 | RPS4Y1 | c.750A>G (p.Glu250=) c.777A>G (p.Glu259=) n.894A>G n.42+12081A>G | |
| Y | g.2866852A>T | CA414947477 | RPS4Y1 | c.750A>T (p.Glu250Asp) c.777A>T (p.Glu259Asp) n.894A>T n.42+12081A>T | |
| Y | g.2866859_2866860del | CA2579746329 | RPS4Y1 | c.757_758del (p.Asp253Ter) c.784_785del (p.Asp262=) n.901_902del n.42+12088_42+12089del | |
| Y | g.2866853G>A | CA414947483 | RPS4Y1 | c.751G>A (p.Glu251Lys) c.778G>A (p.Glu260Lys) n.895G>A n.42+12082G>A | |
| Y | g.2866853G>C | CA414947481 | RPS4Y1 | c.751G>C (p.Glu251Gln) c.778G>C (p.Glu260Gln) n.895G>C n.42+12082G>C | |
| Y | g.2866853G>T | CA414947479 | RPS4Y1 | c.751G>T (p.Glu251Ter) c.778G>T (p.Glu260Ter) n.895G>T n.42+12082G>T | |
| Y | g.2866854A= | CA2469664082 | RPS4Y1 | c.752A= (p.Glu251=) c.779A= (p.Glu260=) n.896A= n.42+12083A= | |
| Y | g.2866854A>C | CA414947485 | RPS4Y1 | c.752A>C (p.Glu251Ala) c.779A>C (p.Glu260Ala) n.896A>C n.42+12083A>C | |
| Y | g.2866854A>G | CA414947487 | RPS4Y1 | c.752A>G (p.Glu251Gly) c.779A>G (p.Glu260Gly) n.896A>G n.42+12083A>G | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.2866854A>T | CA414947489 | RPS4Y1 | c.752A>T (p.Glu251Val) c.779A>T (p.Glu260Val) n.896A>T n.42+12083A>T | |
| Y | g.2866855G>A | CA519439343 | RPS4Y1 | c.753G>A (p.Glu251=) c.780G>A (p.Glu260=) n.897G>A n.42+12084G>A | |
| Y | g.2866855G>C | CA414947491 | RPS4Y1 | c.753G>C (p.Glu251Asp) c.780G>C (p.Glu260Asp) n.897G>C n.42+12084G>C | |
| Y | g.2866855G>T | CA414947493 | RPS4Y1 | c.753G>T (p.Glu251Asp) c.780G>T (p.Glu260Asp) n.897G>T n.42+12084G>T | |
| Y | g.2866856A>C | CA519439344 | RPS4Y1 | c.754A>C (p.Arg252=) c.781A>C (p.Arg261=) n.898A>C n.42+12085A>C | |
| Y | g.2866856A>G | CA414947495 | RPS4Y1 | c.754A>G (p.Arg252Gly) c.781A>G (p.Arg261Gly) n.898A>G n.42+12085A>G | |
| Y | g.2866856A>T | CA414947496 | RPS4Y1 | c.754A>T (p.Arg252Ter) c.781A>T (p.Arg261Ter) n.898A>T n.42+12085A>T | |
| Y | g.2866857G>A | CA414947498 | RPS4Y1 | c.755G>A (p.Arg252Lys) c.782G>A (p.Arg261Lys) n.899G>A n.42+12086G>A | |
| Y | g.2866857G>C | CA414947500 | RPS4Y1 | c.755G>C (p.Arg252Thr) c.782G>C (p.Arg261Thr) n.899G>C n.42+12086G>C | |
| Y | g.2866857G>T | CA414947501 | RPS4Y1 | c.755G>T (p.Arg252Ile) c.782G>T (p.Arg261Ile) n.899G>T n.42+12086G>T | |
| Y | g.2866858A>C | CA414947503 | RPS4Y1 | c.756A>C (p.Arg252Ser) c.783A>C (p.Arg261Ser) n.900A>C n.42+12087A>C | |
| Y | g.2866858A>G | CA519439345 | RPS4Y1 | c.756A>G (p.Arg252=) c.783A>G (p.Arg261=) n.900A>G n.42+12087A>G | |
| Y | g.2866858A>T | CA414947504 | RPS4Y1 | c.756A>T (p.Arg252Ser) c.783A>T (p.Arg261Ser) n.900A>T n.42+12087A>T | |
| Y | g.2866859G>A | CA414947507 | RPS4Y1 | c.757G>A (p.Asp253Asn) c.784G>A (p.Asp262Asn) n.901G>A n.42+12088G>A | |
| Y | g.2866859G>C | CA414947508 | RPS4Y1 | c.757G>C (p.Asp253His) c.784G>C (p.Asp262His) n.901G>C n.42+12088G>C | |
| Y | g.2866859G>T | CA414947505 | RPS4Y1 | c.757G>T (p.Asp253Tyr) c.784G>T (p.Asp262Tyr) n.901G>T n.42+12088G>T | |
| Y | g.2866860A>C | CA414947510 | RPS4Y1 | c.758A>C (p.Asp253Ala) c.785A>C (p.Asp262Ala) n.902A>C n.42+12089A>C | |
| Y | g.2866860A>G | CA414947514 | RPS4Y1 | c.758A>G (p.Asp253Gly) c.785A>G (p.Asp262Gly) n.902A>G n.42+12089A>G | |
| Y | g.2866860A>T | CA414947511 | RPS4Y1 | c.758A>T (p.Asp253Val) c.785A>T (p.Asp262Val) n.902A>T n.42+12089A>T | |
| Y | g.2866861T>A | CA414947516 | RPS4Y1 | c.759T>A (p.Asp253Glu) c.786T>A (p.Asp262Glu) n.903T>A n.42+12090T>A | |
| Y | g.2866861T>C | CA519439346 | RPS4Y1 | c.759T>C (p.Asp253=) c.786T>C (p.Asp262=) n.903T>C n.42+12090T>C | |
| Y | g.2866861T>G | CA414947518 | RPS4Y1 | c.759T>G (p.Asp253Glu) c.786T>G (p.Asp262Glu) n.903T>G n.42+12090T>G | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.2866861T= | CA2469664083 | RPS4Y1 | c.759T= (p.Asp253=) c.786T= (p.Asp262=) n.903T= n.42+12090T= | |
| Y | g.2866862A>C | CA414947520 | RPS4Y1 | c.760A>C (p.Lys254Gln) c.787A>C n.904A>C n.42+12091A>C | |
| Y | g.2866862A>G | CA414947521 | RPS4Y1 | c.760A>G (p.Lys254Glu) c.787A>G n.904A>G n.42+12091A>G | |
| Y | g.2866862A>T | CA414947524 | RPS4Y1 | c.760A>T (p.Lys254Ter) c.787A>T n.904A>T n.42+12091A>T | |
| Y | g.2866863A>C | CA414947526 | RPS4Y1 | c.761A>C (p.Lys254Thr) n.905A>C n.42+12092A>C | |
| Y | g.2866863A>G | CA414947528 | RPS4Y1 | c.761A>G (p.Lys254Arg) n.905A>G n.42+12092A>G | |
| Y | g.2866863A>T | CA414947530 | RPS4Y1 | c.761A>T (p.Lys254Met) n.905A>T n.42+12092A>T | |
| Y | g.2866864G>A | CA519439347 | RPS4Y1 | c.762G>A (p.Lys254=) n.906G>A n.42+12093G>A | |
| Y | g.2866864G>C | CA414947533 | RPS4Y1 | c.762G>C (p.Lys254Asn) n.906G>C n.42+12093G>C | |
| Y | g.2866864G>T | CA414947534 | RPS4Y1 | c.762G>T (p.Lys254Asn) n.906G>T n.42+12093G>T | |
| Y | g.2866865A>C | CA519439348 | RPS4Y1 | c.763A>C (p.Arg255=) n.907A>C n.42+12094A>C | |
| Y | g.2866865A>G | CA414947536 | RPS4Y1 | c.763A>G (p.Arg255Gly) n.907A>G n.42+12094A>G | |
| Y | g.2866865A>T | CA414947537 | RPS4Y1 | c.763A>T (p.Arg255Trp) n.907A>T n.42+12094A>T | |
| Y | g.2866866G>A | CA414947539 | RPS4Y1 | c.764G>A (p.Arg255Lys) n.908G>A n.42+12095G>A | |
| Y | g.2866866G>C | CA414947541 | RPS4Y1 | c.764G>C (p.Arg255Thr) n.908G>C n.42+12095G>C | |
| Y | g.2866866G>T | CA414947543 | RPS4Y1 | c.764G>T (p.Arg255Met) n.908G>T n.42+12095G>T | |
| Y | g.2866867G>A | CA519439349 | RPS4Y1 | c.765G>A (p.Arg255=) n.909G>A n.42+12096G>A | |
| Y | g.2866867G>C | CA414947545 | RPS4Y1 | c.765G>C (p.Arg255Ser) n.909G>C n.42+12096G>C | |
| Y | g.2866867G>T | CA414947547 | RPS4Y1 | c.765G>T (p.Arg255Ser) n.909G>T n.42+12096G>T | |
| Y | g.2866868C>A | CA414947549 | RPS4Y1 | c.766C>A (p.Leu256Met) n.910C>A n.42+12097C>A | |
| Y | g.2866868C>G | CA414947550 | RPS4Y1 | c.766C>G (p.Leu256Val) n.910C>G n.42+12097C>G | |
| Y | g.2866868C>T | CA519439350 | RPS4Y1 | c.766C>T (p.Leu256=) n.910C>T n.42+12097C>T | |
| Y | g.2866869T>A | CA414947553 | RPS4Y1 | c.767T>A (p.Leu256Gln) n.911T>A n.42+12098T>A | |
| Y | g.2866869T>C | CA414947555 | RPS4Y1 | c.767T>C (p.Leu256Pro) n.911T>C n.42+12098T>C | |
| Y | g.2866869T>G | CA414947557 | RPS4Y1 | c.767T>G (p.Leu256Arg) n.911T>G n.42+12098T>G | |
| Y | g.2866870G>A | CA519439351 | RPS4Y1 | c.768G>A (p.Leu256=) n.912G>A n.42+12099G>A | |
| Y | g.2866870G>C | CA519439352 | RPS4Y1 | c.768G>C (p.Leu256=) n.912G>C n.42+12099G>C | |
| Y | g.2866870G>T | CA519439353 | RPS4Y1 | c.768G>T (p.Leu256=) n.912G>T n.42+12099G>T | |
| Y | g.2866871G>A | CA414947559 | RPS4Y1 | c.769G>A (p.Ala257Thr) n.913G>A n.42+12100G>A | |
| Y | g.2866871G>C | CA414947561 | RPS4Y1 | c.769G>C (p.Ala257Pro) n.913G>C n.42+12100G>C | |
| Y | g.2866871G>T | CA414947562 | RPS4Y1 | c.769G>T (p.Ala257Ser) n.913G>T n.42+12100G>T | |
| Y | g.2866872C>A | CA414947565 | RPS4Y1 | c.770C>A (p.Ala257Asp) n.914C>A n.42+12101C>A | |
| Y | g.2866872C>G | CA414947568 | RPS4Y1 | c.770C>G (p.Ala257Gly) n.914C>G n.42+12101C>G | |
| Y | g.2866872C>T | CA414947570 | RPS4Y1 | c.770C>T (p.Ala257Val) n.914C>T n.42+12101C>T | |
| Y | g.2866873del | CA2579746330 | RPS4Y1 | c.771del (p.Thr258ProfsTer10) n.915del n.42+12102del | |
| Y | g.2866873C>A | CA519439354 | RPS4Y1 | c.771C>A (p.Ala257=) n.915C>A n.42+12102C>A | |
| Y | g.2866873C>G | CA519439355 | RPS4Y1 | c.771C>G (p.Ala257=) n.915C>G n.42+12102C>G | |
| Y | g.2866873C>T | CA519439356 | RPS4Y1 | c.771C>T (p.Ala257=) n.915C>T n.42+12102C>T | |
| Y | g.2866874A>C | CA414947573 | RPS4Y1 | c.772A>C (p.Thr258Pro) n.916A>C n.42+12103A>C | |
| Y | g.2866874A>G | CA414947576 | RPS4Y1 | c.772A>G (p.Thr258Ala) n.916A>G n.42+12103A>G | |
| Y | g.2866874A>T | CA414947574 | RPS4Y1 | c.772A>T (p.Thr258Ser) n.916A>T n.42+12103A>T | |
| Y | g.2866875C>A | CA414947578 | RPS4Y1 | c.773C>A (p.Thr258Asn) n.917C>A n.42+12104C>A | |
| Y | g.2866875C>G | CA414947581 | RPS4Y1 | c.773C>G (p.Thr258Ser) n.917C>G n.42+12104C>G | |
| Y | g.2866875C>T | CA414947583 | RPS4Y1 | c.773C>T (p.Thr258Ile) n.917C>T n.42+12104C>T | |
| Y | g.2866876C>A | CA519439357 | RPS4Y1 | c.774C>A (p.Thr258=) n.918C>A n.42+12105C>A | |
| Y | g.2866876C= | CA2469664084 | RPS4Y1 | c.774C= (p.Thr258=) n.918C= n.42+12105C= | |
| Y | g.2866876C>G | CA10571329 | RPS4Y1 | c.774C>G (p.Thr258=) n.918C>G n.42+12105C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.2866876C>T | CA519439358 | RPS4Y1 | c.774C>T (p.Thr258=) n.918C>T n.42+12105C>T | |
| Y | g.2866877A>C | CA414947585 | RPS4Y1 | c.775A>C (p.Lys259Gln) n.919A>C n.42+12106A>C | |
| Y | g.2866877A>G | CA414947586 | RPS4Y1 | c.775A>G (p.Lys259Glu) n.919A>G n.42+12106A>G | |
| Y | g.2866877A>T | CA414947587 | RPS4Y1 | c.775A>T (p.Lys259Ter) n.919A>T n.42+12106A>T | |
| Y | g.2866878A= | CA2469664085 | RPS4Y1 | c.776A= (p.Lys259=) n.920A= n.42+12107A= | |
| Y | g.2866878A>C | CA414947588 | RPS4Y1 | c.776A>C (p.Lys259Thr) n.920A>C n.42+12107A>C | |
| Y | g.2866878A>G | CA337440498 | RPS4Y1 | c.776A>G (p.Lys259Arg) n.920A>G n.42+12107A>G | dbSNP |
| Y | g.2866878A>T | CA414947591 | RPS4Y1 | c.776A>T (p.Lys259Ile) n.920A>T n.42+12107A>T | |
| Y | g.2866879A>C | CA414947597 | RPS4Y1 | c.777A>C (p.Lys259Asn) n.921A>C n.42+12108A>C | |
| Y | g.2866879A>G | CA519439359 | RPS4Y1 | c.777A>G (p.Lys259=) n.921A>G n.42+12108A>G | |
| Y | g.2866879A>T | CA414947594 | RPS4Y1 | c.777A>T (p.Lys259Asn) n.921A>T n.42+12108A>T | |
| Y | g.2866880C>A | CA414947601 | RPS4Y1 | c.778C>A (p.Gln260Lys) n.922C>A n.42+12109C>A | |
| Y | g.2866880C>G | CA414947604 | RPS4Y1 | c.778C>G (p.Gln260Glu) n.922C>G n.42+12109C>G | |
| Y | g.2866880C>T | CA414947607 | RPS4Y1 | c.778C>T (p.Gln260Ter) n.922C>T n.42+12109C>T | |
| Y | g.2866881A>C | CA414947613 | RPS4Y1 | c.779A>C (p.Gln260Pro) n.923A>C n.42+12110A>C | |
| Y | g.2866881A>G | CA414947615 | RPS4Y1 | c.779A>G (p.Gln260Arg) n.923A>G n.42+12110A>G | |
| Y | g.2866881A>T | CA414947618 | RPS4Y1 | c.779A>T (p.Gln260Leu) n.923A>T n.42+12110A>T | |
| Y | g.2866882G>A | CA519439360 | RPS4Y1 | c.780G>A (p.Gln260=) n.924G>A n.42+12111G>A | |
| Y | g.2866882G>C | CA414947620 | RPS4Y1 | c.780G>C (p.Gln260His) n.924G>C n.42+12111G>C | |
| Y | g.2866882G>T | CA414947623 | RPS4Y1 | c.780G>T (p.Gln260His) n.924G>T n.42+12111G>T | |
| Y | g.2866883A>C | CA414947627 | RPS4Y1 | c.781A>C (p.Ser261Arg) n.925A>C n.42+12112A>C | |
| Y | g.2866883A>G | CA414947630 | RPS4Y1 | c.781A>G (p.Ser261Gly) n.925A>G n.42+12112A>G | |
| Y | g.2866883A>T | CA414947633 | RPS4Y1 | c.781A>T (p.Ser261Cys) n.925A>T n.42+12112A>T | |
| Y | g.2866884G>A | CA414947640 | RPS4Y1 | c.782G>A (p.Ser261Asn) n.926G>A n.42+12113G>A | |
| Y | g.2866884G>C | CA414947645 | RPS4Y1 | c.782G>C (p.Ser261Thr) n.926G>C n.42+12113G>C | |
| Y | g.2866884G>T | CA414947637 | RPS4Y1 | c.782G>T (p.Ser261Ile) n.926G>T n.42+12113G>T | |
| Y | g.2866885C>A | CA414947655 | RPS4Y1 | c.783C>A (p.Ser261Arg) n.927C>A n.42+12114C>A | |
| Y | g.2866885C>G | CA414947653 | RPS4Y1 | c.783C>G (p.Ser261Arg) n.927C>G n.42+12114C>G | |
| Y | g.2866885C>T | CA519439361 | RPS4Y1 | c.783C>T (p.Ser261=) n.927C>T n.42+12114C>T | |
| Y | g.2866886A>C | CA414947658 | RPS4Y1 | c.784A>C (p.Ser262Arg) n.928A>C n.42+12115A>C | |
| Y | g.2866886A>G | CA414947659 | RPS4Y1 | c.784A>G (p.Ser262Gly) n.928A>G n.42+12115A>G | |
| Y | g.2866886A>T | CA414947663 | RPS4Y1 | c.784A>T (p.Ser262Cys) n.928A>T n.42+12115A>T | |
| Y | g.2866887G>A | CA414947667 | RPS4Y1 | c.785G>A (p.Ser262Asn) n.929G>A n.42+12116G>A | |
| Y | g.2866887G>C | CA414947668 | RPS4Y1 | c.785G>C (p.Ser262Thr) n.929G>C n.42+12116G>C | |
| Y | g.2866887G>T | CA414947670 | RPS4Y1 | c.785G>T (p.Ser262Ile) n.929G>T n.42+12116G>T | |
| Y | g.2866888T>A | CA414947674 | RPS4Y1 | c.786T>A (p.Ser262Arg) n.930T>A n.42+12117T>A | |
| Y | g.2866888T>C | CA519439362 | RPS4Y1 | c.786T>C (p.Ser262=) n.930T>C n.42+12117T>C | |
| Y | g.2866888T>G | CA414947677 | RPS4Y1 | c.786T>G (p.Ser262Arg) n.930T>G n.42+12117T>G | |
| Y | g.2866889G>A | CA414947679 | RPS4Y1 | c.787G>A (p.Gly263Ser) n.931G>A n.42+12118G>A | |
| Y | g.2866889G>C | CA414947682 | RPS4Y1 | c.787G>C (p.Gly263Arg) n.931G>C n.42+12118G>C | |
| Y | g.2866889G>T | CA414947685 | RPS4Y1 | c.787G>T (p.Gly263Cys) n.931G>T n.42+12118G>T | |
| Y | g.2866890G>A | CA414947692 | RPS4Y1 | c.788G>A (p.Gly263Asp) n.932G>A n.42+12119G>A | |
| Y | g.2866890G>C | CA414947688 | RPS4Y1 | c.788G>C (p.Gly263Ala) n.932G>C n.42+12119G>C | |
| Y | g.2866890G>T | CA414947689 | RPS4Y1 | c.788G>T (p.Gly263Val) n.932G>T n.42+12119G>T | |
| Y | g.2866891C>A | CA519439363 | RPS4Y1 | c.789C>A (p.Gly263=) n.933C>A n.42+12120C>A | |
| Y | g.2866891C>G | CA519439364 | RPS4Y1 | c.789C>G (p.Gly263=) n.933C>G n.42+12120C>G | |
| Y | g.2866891C>T | CA519439365 | RPS4Y1 | c.789C>T (p.Gly263=) n.933C>T n.42+12120C>T | |
| Y | g.2866892T>A | CA414947696 | RPS4Y1 | c.790T>A (p.Ter264Lys) n.934T>A n.42+12121T>A | |
| Y | g.2866892T>C | CA414947698 | RPS4Y1 | c.790T>C (p.Ter264Gln) n.934T>C n.42+12121T>C | |
| Y | g.2866892T>G | CA414947701 | RPS4Y1 | c.790T>G (p.Ter264Glu) n.934T>G n.42+12121T>G | |
| Y | g.2866893A>C | CA414947705 | RPS4Y1 | c.791A>C (p.Ter264Ser) n.935A>C n.42+12122A>C | |
| Y | g.2866893A>G | CA519439366 | RPS4Y1 | c.791A>G (p.Ter264=) n.935A>G n.42+12122A>G | |
| Y | g.2866893A>T | CA414947707 | RPS4Y1 | c.791A>T (p.Ter264Leu) n.935A>T n.42+12122A>T | |
| Y | g.2866894A>C | CA414947710 | RPS4Y1 | c.792A>C (p.Ter264Tyr) n.936A>C n.42+12123A>C | |
| Y | g.2866894A>G | CA519439367 | RPS4Y1 | c.792A>G (p.Ter264=) n.936A>G n.42+12123A>G | |
| Y | g.2866894A>T | CA414947712 | RPS4Y1 | c.792A>T (p.Ter264Tyr) n.936A>T n.42+12123A>T | |
| Y | g.2866897T>G | CA2766267227 | RPS4Y1 | c.*3T>G (n.*3T>G) n.939T>G n.42+12126T>G | |
| Y | g.2866899C>A | CA2579746331 | RPS4Y1 | c.*5C>A (n.*5C>A) n.941C>A n.42+12128C>A | |
| Y | g.2866901G>A | CA2579746332 | RPS4Y1 | c.*7G>A (n.*7G>A) n.943G>A n.42+12130G>A | |
| Y | g.2866902T>A | CA1138674183 | RPS4Y1 | c.*8T>A (n.*8T>A) n.944T>A n.42+12131T>A | gnomAD v3 gnomAD v4 |
| Y | g.2866909A>G | CA2766267228 | RPS4Y1 | c.*15A>G (n.*15A>G) n.951A>G n.42+12138A>G | |
| Y | g.2866920del | CA2766267229 | RPS4Y1 | c.*26del (n.*26del) n.962del n.42+12149del | |
| Y | g.2866916T>C | CA2824363292 | RPS4Y1 | c.*22T>C (n.*22T>C) n.958T>C n.42+12145T>C | |
| Y | g.2866918T>C | CA2766267230 | RPS4Y1 | c.*24T>C (n.*24T>C) n.960T>C n.42+12147T>C | |
| Y | g.2866923T>C | CA2766267231 | RPS4Y1 | c.*29T>C (n.*29T>C) n.965T>C n.42+12152T>C | |
| Y | g.2866924T>G | CA2766267232 | RPS4Y1 | c.*30T>G (n.*30T>G) n.966T>G n.42+12153T>G | |
| Y | g.2866928C>A | CA2766267233 | RPS4Y1 | c.*34C>A (n.*34C>A) n.970C>A n.42+12157C>A | |
| Y | g.2866939T>A | CA2579746333 | RPS4Y1 | c.*45T>A (n.*45T>A) n.981T>A n.42+12168T>A | |
| Y | g.2866947C>A | CA2824363293 | RPS4Y1 | c.*53C>A (n.*53C>A) n.989C>A n.42+12176C>A | |
| Y | g.2866948G>A | CA2579746334 | RPS4Y1 | c.*54G>A (n.*54G>A) n.990G>A n.42+12177G>A | |
| Y | g.2866948G>T | CA2766267234 | RPS4Y1 | c.*54G>T (n.*54G>T) n.990G>T n.42+12177G>T |