| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.968020_968034dup | CA746832673 | RSPO4 | c.188_202dup (p.Gly67_Lys68insIleArgGlnTyrGly) c.236_250dup (p.Gly83_Lys84insIleArgGlnTyrGly) n.308_322dup n.303_317dup | dbSNP gnomAD v4 |
| 20 | g.968024_968039delinsTGGCGGATGCCTTCCC | CA2345447918 | RSPO4 | c.179_194delinsGGGAAGGCATCCGCCA (p.Arg60=) c.227_242delinsGGGAAGGCATCCGCCA (p.Arg76=) n.299_314delinsGGGAAGGCATCCGCCA n.294_309delinsGGGAAGGCATCCGCCA | |
| 20 | g.968033_968047dup | CA9725751 | RSPO4 | c.179_193dup (p.Arg64_Gln65insArgGluGlyIleArg) c.227_241dup (p.Arg80_Gln81insArgGluGlyIleArg) n.299_313dup n.294_308dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968033_968047del | CA2345447924 | RSPO4 | c.179_193del (p.Arg60_Arg64del) c.227_241del (p.Arg76_Arg80del) n.299_313del n.294_308del | dbSNP |
| 20 | g.968026G>A | CA509343585 | RSPO4 | c.192C>T (p.Arg64=) c.240C>T (p.Arg80=) n.312C>T n.307C>T | dbSNP |
| 20 | g.968026G>C | CA509343584 | RSPO4 | c.192C>G (p.Arg64=) c.240C>G (p.Arg80=) n.312C>G n.307C>G | |
| 20 | g.968026G= | CA2345447934 | RSPO4 | c.192C= (p.Arg64=) c.240C= (p.Arg80=) n.312C= n.307C= | |
| 20 | g.968026G>T | CA9725752 | RSPO4 | c.192C>A (p.Arg64=) c.240C>A (p.Arg80=) n.312C>A n.307C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968027C>A | CA407970541 | RSPO4 | c.191G>T (p.Arg64Leu) c.239G>T (p.Arg80Leu) n.311G>T n.306G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968027C= | CA2345447940 | RSPO4 | c.191G= (p.Arg64=) c.239G= (p.Arg80=) n.311G= n.306G= | |
| 20 | g.968027C>G | CA407970543 | RSPO4 | c.191G>C (p.Arg64Pro) c.239G>C (p.Arg80Pro) n.311G>C n.306G>C | |
| 20 | g.968027C>T | CA9725753 | RSPO4 | c.191G>A (p.Arg64His) c.239G>A (p.Arg80His) n.311G>A n.306G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968028G>A | CA129499 | RSPO4 | c.190C>T (p.Arg64Cys) c.238C>T (p.Arg80Cys) n.310C>T n.305C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968028G>C | CA407970549 | RSPO4 | c.190C>G (p.Arg64Gly) c.238C>G (p.Arg80Gly) n.310C>G n.305C>G | gnomAD v4 |
| 20 | g.968028G= | CA2345447947 | RSPO4 | c.190C= (p.Arg64=) c.238C= (p.Arg80=) n.310C= n.305C= | |
| 20 | g.968028G>T | CA407970552 | RSPO4 | c.190C>A (p.Arg64Ser) c.238C>A (p.Arg80Ser) n.310C>A n.305C>A | gnomAD v4 |
| 20 | g.968029G>A | CA509343587 | RSPO4 | c.189C>T (p.Ile63=) c.237C>T (p.Ile79=) n.309C>T n.304C>T | COSMIC |
| 20 | g.968029G>C | CA407970555 | RSPO4 | c.189C>G (p.Ile63Met) c.237C>G (p.Ile79Met) n.309C>G n.304C>G | |
| 20 | g.968029G>T | CA509343588 | RSPO4 | c.189C>A (p.Ile63=) c.237C>A (p.Ile79=) n.309C>A n.304C>A | |
| 20 | g.968030A>C | CA407970560 | RSPO4 | c.188T>G (p.Ile63Ser) c.236T>G (p.Ile79Ser) n.308T>G n.303T>G | |
| 20 | g.968030A>G | CA407970562 | RSPO4 | c.188T>C (p.Ile63Thr) c.236T>C (p.Ile79Thr) n.308T>C n.303T>C | |
| 20 | g.968030A>T | CA407970559 | RSPO4 | c.188T>A (p.Ile63Asn) c.236T>A (p.Ile79Asn) n.308T>A n.303T>A | gnomAD v4 |
| 20 | g.968031T>A | CA407970564 | RSPO4 | c.187A>T (p.Ile63Phe) c.235A>T (p.Ile79Phe) n.307A>T n.302A>T | |
| 20 | g.968031T>C | CA407970567 | RSPO4 | c.187A>G (p.Ile63Val) c.235A>G (p.Ile79Val) n.307A>G n.302A>G | |
| 20 | g.968031T>G | CA407970569 | RSPO4 | c.187A>C (p.Ile63Leu) c.235A>C (p.Ile79Leu) n.307A>C n.302A>C | |
| 20 | g.968032G>A | CA509343590 | RSPO4 | c.186C>T (p.Gly62=) c.234C>T (p.Gly78=) n.306C>T n.301C>T | gnomAD v4 COSMIC |
| 20 | g.968032G>C | CA509343592 | RSPO4 | c.186C>G (p.Gly62=) c.234C>G (p.Gly78=) n.306C>G n.301C>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.968032G= | CA2345447954 | RSPO4 | c.186C= (p.Gly62=) c.234C= (p.Gly78=) n.306C= n.301C= | |
| 20 | g.968032G>T | CA509343593 | RSPO4 | c.186C>A (p.Gly62=) c.234C>A (p.Gly78=) n.306C>A n.301C>A | |
| 20 | g.968033C>A | CA407970572 | RSPO4 | c.185G>T (p.Gly62Val) c.233G>T (p.Gly78Val) n.305G>T n.300G>T | |
| 20 | g.968033C>G | CA407970574 | RSPO4 | c.185G>C (p.Gly62Ala) c.233G>C (p.Gly78Ala) n.305G>C n.300G>C | |
| 20 | g.968033C>T | CA407970576 | RSPO4 | c.185G>A (p.Gly62Asp) c.233G>A (p.Gly78Asp) n.305G>A n.300G>A | |
| 20 | g.968034dup | CA634326311 | RSPO4 | c.185dup (p.Ile63HisfsTer?) c.233dup (p.Ile79HisfsTer?) n.305dup n.300dup | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968034C>A | CA407970579 | RSPO4 | c.184G>T (p.Gly62Cys) c.232G>T (p.Gly78Cys) n.304G>T n.299G>T | |
| 20 | g.968034C= | CA2345447961 | RSPO4 | c.184G= (p.Gly62=) c.232G= (p.Gly78=) n.304G= n.299G= | |
| 20 | g.968034C>G | CA407970583 | RSPO4 | c.184G>C (p.Gly62Arg) c.232G>C (p.Gly78Arg) n.304G>C n.299G>C | |
| 20 | g.968034C>T | CA9725754 | RSPO4 | c.184G>A (p.Gly62Ser) c.232G>A (p.Gly78Ser) n.304G>A n.299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968035T>A | CA407970585 | RSPO4 | c.183A>T (p.Glu61Asp) c.231A>T (p.Glu77Asp) n.303A>T n.298A>T | |
| 20 | g.968035T>C | CA509343596 | RSPO4 | c.183A>G (p.Glu61=) c.231A>G (p.Glu77=) n.303A>G n.298A>G | gnomAD v4 |
| 20 | g.968035T>G | CA407970587 | RSPO4 | c.183A>C (p.Glu61Asp) c.231A>C (p.Glu77Asp) n.303A>C n.298A>C | |
| 20 | g.968036T>A | CA407970590 | RSPO4 | c.182A>T (p.Glu61Val) c.230A>T (p.Glu77Val) n.302A>T n.297A>T | |
| 20 | g.968036T>C | CA407970592 | RSPO4 | c.182A>G (p.Glu61Gly) c.230A>G (p.Glu77Gly) n.302A>G n.297A>G | dbSNP |
| 20 | g.968036T>G | CA407970594 | RSPO4 | c.182A>C (p.Glu61Ala) c.230A>C (p.Glu77Ala) n.302A>C n.297A>C | |
| 20 | g.968036T= | CA2345447965 | RSPO4 | c.182A= (p.Glu61=) c.230A= (p.Glu77=) n.302A= n.297A= | |
| 20 | g.968037C>A | CA407970599 | RSPO4 | c.181G>T (p.Glu61Ter) c.229G>T (p.Glu77Ter) n.301G>T n.296G>T | COSMIC |
| 20 | g.968037C>G | CA407970601 | RSPO4 | c.181G>C (p.Glu61Gln) c.229G>C (p.Glu77Gln) n.301G>C n.296G>C | |
| 20 | g.968037C>T | CA407970596 | RSPO4 | c.181G>A (p.Glu61Lys) c.229G>A (p.Glu77Lys) n.301G>A n.296G>A | |
| 20 | g.968038C>A | CA509343600 | RSPO4 | c.180G>T (p.Arg60=) c.228G>T (p.Arg76=) n.300G>T n.295G>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968038C= | CA2345447973 | RSPO4 | c.180G= (p.Arg60=) c.228G= (p.Arg76=) n.300G= n.295G= | |
| 20 | g.968038C>G | CA310719522 | RSPO4 | c.180G>C (p.Arg60=) c.228G>C (p.Arg76=) n.300G>C n.295G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968038C>T | CA310719524 | RSPO4 | c.180G>A (p.Arg60=) c.228G>A (p.Arg76=) n.300G>A n.295G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.968039C>A | CA407970607 | RSPO4 | c.179G>T (p.Arg60Leu) c.227G>T (p.Arg76Leu) n.299G>T n.294G>T | |
| 20 | g.968039C= | CA2345447985 | RSPO4 | c.179G= (p.Arg60=) c.227G= (p.Arg76=) n.299G= n.294G= | |
| 20 | g.968039C>G | CA407970604 | RSPO4 | c.179G>C (p.Arg60Pro) c.227G>C (p.Arg76Pro) n.299G>C n.294G>C | gnomAD v4 |
| 20 | g.968039C>T | CA310719526 | RSPO4 | c.179G>A (p.Arg60Gln) c.227G>A (p.Arg76Gln) n.299G>A n.294G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.968040G>A | CA9725755 | RSPO4 | c.178C>T (p.Arg60Trp) c.226C>T (p.Arg76Trp) n.298C>T n.293C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968040G>C | CA407970612 | RSPO4 | c.178C>G (p.Arg60Gly) c.226C>G (p.Arg76Gly) n.298C>G n.293C>G | |
| 20 | g.968040G= | CA2345447990 | RSPO4 | c.178C= (p.Arg60=) c.226C= (p.Arg76=) n.298C= n.293C= | |
| 20 | g.968040G>T | CA509343601 | RSPO4 | c.178C>A (p.Arg60=) c.226C>A (p.Arg76=) n.298C>A n.293C>A | COSMIC |
| 20 | g.968041G>A | CA509343602 | RSPO4 | c.177C>T (p.Arg59=) c.225C>T (p.Arg75=) n.297C>T n.292C>T | |
| 20 | g.968041G>C | CA509343603 | RSPO4 | c.177C>G (p.Arg59=) c.225C>G (p.Arg75=) n.297C>G n.292C>G | gnomAD v4 |
| 20 | g.968041G>T | CA509343605 | RSPO4 | c.177C>A (p.Arg59=) c.225C>A (p.Arg75=) n.297C>A n.292C>A | |
| 20 | g.968042C>A | CA407970614 | RSPO4 | c.176G>T (p.Arg59Leu) c.224G>T (p.Arg75Leu) n.296G>T n.291G>T | |
| 20 | g.968042C= | CA2345447992 | RSPO4 | c.176G= (p.Arg59=) c.224G= (p.Arg75=) n.296G= n.291G= | |
| 20 | g.968042C>G | CA407970618 | RSPO4 | c.176G>C (p.Arg59Pro) c.224G>C (p.Arg75Pro) n.296G>C n.291G>C | gnomAD v4 |
| 20 | g.968042C>T | CA407970616 | RSPO4 | c.176G>A (p.Arg59His) c.224G>A (p.Arg75His) n.296G>A n.291G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968043G>A | CA9725756 | RSPO4 | c.175C>T (p.Arg59Cys) c.223C>T (p.Arg75Cys) n.295C>T n.290C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.968043G>C | CA407970621 | RSPO4 | c.175C>G (p.Arg59Gly) c.223C>G (p.Arg75Gly) n.295C>G n.290C>G | |
| 20 | g.968043G= | CA2345447995 | RSPO4 | c.175C= (p.Arg59=) c.223C= (p.Arg75=) n.295C= n.290C= | |
| 20 | g.968043G>T | CA407970623 | RSPO4 | c.175C>A (p.Arg59Ser) c.223C>A (p.Arg75Ser) n.295C>A n.290C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968044G>A | CA9725757 | RSPO4 | c.174C>T (p.Ile58=) c.222C>T (p.Ile74=) n.294C>T n.289C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968044G>C | CA407970627 | RSPO4 | c.174C>G (p.Ile58Met) c.222C>G (p.Ile74Met) n.294C>G n.289C>G | |
| 20 | g.968044G= | CA2345447999 | RSPO4 | c.174C= (p.Ile58=) c.222C= (p.Ile74=) n.294C= n.289C= | |
| 20 | g.968044G>T | CA509343606 | RSPO4 | c.174C>A (p.Ile58=) c.222C>A (p.Ile74=) n.294C>A n.289C>A | |
| 20 | g.968045A= | CA2345448002 | RSPO4 | c.173T= (p.Ile58=) c.221T= (p.Ile74=) n.293T= n.288T= | |
| 20 | g.968045A>C | CA407970634 | RSPO4 | c.173T>G (p.Ile58Ser) c.221T>G (p.Ile74Ser) n.293T>G n.288T>G | |
| 20 | g.968045A>G | CA407970632 | RSPO4 | c.173T>C (p.Ile58Thr) c.221T>C (p.Ile74Thr) n.293T>C n.288T>C | dbSNP |
| 20 | g.968045A>T | CA407970630 | RSPO4 | c.173T>A (p.Ile58Asn) c.221T>A (p.Ile74Asn) n.293T>A n.288T>A | |
| 20 | g.968046T>A | CA407970637 | RSPO4 | c.172A>T (p.Ile58Phe) c.220A>T (p.Ile74Phe) n.292A>T n.287A>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968046T>C | CA9725758 | RSPO4 | c.172A>G (p.Ile58Val) c.220A>G (p.Ile74Val) n.292A>G n.287A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968046T>G | CA407970640 | RSPO4 | c.172A>C (p.Ile58Leu) c.220A>C (p.Ile74Leu) n.292A>C n.287A>C | |
| 20 | g.968046T= | CA2345448005 | RSPO4 | c.172A= (p.Ile58=) c.220A= (p.Ile74=) n.292A= n.287A= | |
| 20 | g.968047G>A | CA9725759 | RSPO4 | c.171C>T (p.Phe57=) c.219C>T (p.Phe73=) n.291C>T n.286C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968047G>C | CA407970645 | RSPO4 | c.171C>G (p.Phe57Leu) c.219C>G (p.Phe73Leu) n.291C>G n.286C>G | |
| 20 | g.968047G= | CA2345448011 | RSPO4 | c.171C= (p.Phe57=) c.219C= (p.Phe73=) n.291C= n.286C= | |
| 20 | g.968047G>T | CA407970647 | RSPO4 | c.171C>A (p.Phe57Leu) c.219C>A (p.Phe73Leu) n.291C>A n.286C>A | |
| 20 | g.968048A>C | CA407970656 | RSPO4 | c.170T>G (p.Phe57Cys) c.218T>G (p.Phe73Cys) n.290T>G n.285T>G | gnomAD v4 |
| 20 | g.968048A>G | CA407970652 | RSPO4 | c.170T>C (p.Phe57Ser) c.218T>C (p.Phe73Ser) n.290T>C n.285T>C | |
| 20 | g.968048A>T | CA407970654 | RSPO4 | c.170T>A (p.Phe57Tyr) c.218T>A (p.Phe73Tyr) n.290T>A n.285T>A | |
| 20 | g.968049A>C | CA407970660 | RSPO4 | c.169T>G (p.Phe57Val) c.217T>G (p.Phe73Val) n.289T>G n.284T>G | |
| 20 | g.968049A>G | CA407970662 | RSPO4 | c.169T>C (p.Phe57Leu) c.217T>C (p.Phe73Leu) n.289T>C n.284T>C | |
| 20 | g.968049A>T | CA407970664 | RSPO4 | c.169T>A (p.Phe57Ile) c.217T>A (p.Phe73Ile) n.289T>A n.284T>A | |
| 20 | g.968050C>A | CA509343610 | RSPO4 | c.168G>T (p.Leu56=) c.216G>T (p.Leu72=) n.288G>T n.283G>T | |
| 20 | g.968050C= | CA2345447451 | RSPO4 | c.168G= (p.Leu56=) c.216G= (p.Leu72=) n.288G= n.283G= | |
| 20 | g.968050C>G | CA509343612 | RSPO4 | c.168G>C (p.Leu56=) c.216G>C (p.Leu72=) n.288G>C n.283G>C | |
| 20 | g.968050C>T | CA9725760 | RSPO4 | c.168G>A (p.Leu56=) c.216G>A (p.Leu72=) n.288G>A n.283G>A | dbSNP ExAC |
| 20 | g.968051A>C | CA407970665 | RSPO4 | c.167T>G (p.Leu56Arg) c.215T>G (p.Leu72Arg) n.287T>G n.282T>G | |
| 20 | g.968051A>G | CA407970666 | RSPO4 | c.167T>C (p.Leu56Pro) c.215T>C (p.Leu72Pro) n.287T>C n.282T>C | |
| 20 | g.968051A>T | CA407970668 | RSPO4 | c.167T>A (p.Leu56Gln) c.215T>A (p.Leu72Gln) n.287T>A n.282T>A | |
| 20 | g.968053_968056dup | CA2577315604 | RSPO4 | c.164_167dup (p.Phe57ProfsTer?) c.212_215dup (p.Phe73ProfsTer?) n.284_287dup n.279_282dup | |
| 20 | g.968052G>A | CA9725761 | RSPO4 | c.166C>T (p.Leu56=) c.214C>T (p.Leu72=) n.286C>T n.281C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968052G>C | CA407970672 | RSPO4 | c.166C>G (p.Leu56Val) c.214C>G (p.Leu72Val) n.286C>G n.281C>G | |
| 20 | g.968052G= | CA2345447456 | RSPO4 | c.166C= (p.Leu56=) c.214C= (p.Leu72=) n.286C= n.281C= | |
| 20 | g.968052G>T | CA407970674 | RSPO4 | c.166C>A (p.Leu56Met) c.214C>A (p.Leu72Met) n.286C>A n.281C>A | |
| 20 | g.968056_968077dup | CA2580097952 | RSPO4 | c.145_166dup (p.Leu56HisfsTer?) c.193_214dup (p.Leu72HisfsTer?) n.265_286dup n.260_281dup | ClinVar gnomAD v4 |
| 20 | g.968053G>A | CA509343615 | RSPO4 | c.165C>T (p.Phe55=) c.213C>T (p.Phe71=) n.285C>T n.280C>T | |
| 20 | g.968053G>C | CA9725762 | RSPO4 | c.165C>G (p.Phe55Leu) c.213C>G (p.Phe71Leu) n.285C>G n.280C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968053G= | CA2345447459 | RSPO4 | c.165C= (p.Phe55=) c.213C= (p.Phe71=) n.285C= n.280C= | |
| 20 | g.968053G>T | CA407970676 | RSPO4 | c.165C>A (p.Phe55Leu) c.213C>A (p.Phe71Leu) n.285C>A n.280C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968053_968054delinsTT | CA2695229187 | RSPO4 | c.164_165delinsAA (p.Phe55Ter) c.212_213delinsAA (p.Phe71Ter) n.284_285delinsAA n.279_280delinsAA | |
| 20 | g.968054A= | CA2345447460 | RSPO4 | c.164T= (p.Phe55=) c.212T= (p.Phe71=) n.284T= n.279T= | |
| 20 | g.968054A>C | CA407970679 | RSPO4 | c.164T>G (p.Phe55Cys) c.212T>G (p.Phe71Cys) n.284T>G n.279T>G | |
| 20 | g.968054A>G | CA407970683 | RSPO4 | c.164T>C (p.Phe55Ser) c.212T>C (p.Phe71Ser) n.284T>C n.279T>C | gnomAD v4 |
| 20 | g.968054A>T | CA407970681 | RSPO4 | c.164T>A (p.Phe55Tyr) c.212T>A (p.Phe71Tyr) n.284T>A n.279T>A | dbSNP gnomAD v2 |
| 20 | g.968055A= | CA2345447461 | RSPO4 | c.163T= (p.Phe55=) c.211T= (p.Phe71=) n.283T= n.278T= | |
| 20 | g.968055A>C | CA407970687 | RSPO4 | c.163T>G (p.Phe55Val) c.211T>G (p.Phe71Val) n.283T>G n.278T>G | |
| 20 | g.968055A>G | CA407970688 | RSPO4 | c.163T>C (p.Phe55Leu) c.211T>C (p.Phe71Leu) n.283T>C n.278T>C | dbSNP gnomAD v4 |
| 20 | g.968055A>T | CA407970690 | RSPO4 | c.163T>A (p.Phe55Ile) c.211T>A (p.Phe71Ile) n.283T>A n.278T>A | |
| 20 | g.968056G>A | CA509343619 | RSPO4 | c.162C>T (p.Leu54=) c.210C>T (p.Leu70=) n.282C>T n.277C>T | |
| 20 | g.968056G>C | CA9725763 | RSPO4 | c.162C>G (p.Leu54=) c.210C>G (p.Leu70=) n.282C>G n.277C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968056G= | CA2345447463 | RSPO4 | c.162C= (p.Leu54=) c.210C= (p.Leu70=) n.282C= n.277C= | |
| 20 | g.968056G>T | CA509343621 | RSPO4 | c.162C>A (p.Leu54=) c.210C>A (p.Leu70=) n.282C>A n.277C>A | |
| 20 | g.968057A= | CA2345447465 | RSPO4 | c.161T= (p.Leu54=) c.209T= (p.Leu70=) n.281T= n.276T= | |
| 20 | g.968057A>C | CA407970694 | RSPO4 | c.161T>G (p.Leu54Arg) c.209T>G (p.Leu70Arg) n.281T>G n.276T>G | |
| 20 | g.968057A>G | CA407970697 | RSPO4 | c.161T>C (p.Leu54Pro) c.209T>C (p.Leu70Pro) n.281T>C n.276T>C | |
| 20 | g.968057A>T | CA9725764 | RSPO4 | c.161T>A (p.Leu54His) c.209T>A (p.Leu70His) n.281T>A n.276T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968058G>A | CA407970702 | RSPO4 | c.160C>T (p.Leu54Phe) c.208C>T (p.Leu70Phe) n.280C>T n.275C>T | gnomAD v4 |
| 20 | g.968058G>C | CA407970704 | RSPO4 | c.160C>G (p.Leu54Val) c.208C>G (p.Leu70Val) n.280C>G n.275C>G | |
| 20 | g.968058G>T | CA407970706 | RSPO4 | c.160C>A (p.Leu54Ile) c.208C>A (p.Leu70Ile) n.280C>A n.275C>A | |
| 20 | g.968059C>A | CA310719548 | RSPO4 | c.159G>T (p.Arg53Ser) c.207G>T (p.Arg69Ser) n.279G>T n.274G>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.968059C= | CA2345447469 | RSPO4 | c.159G= (p.Arg53=) c.207G= (p.Arg69=) n.279G= n.274G= | |
| 20 | g.968059C>G | CA9725765 | RSPO4 | c.159G>C (p.Arg53Ser) c.207G>C (p.Arg69Ser) n.279G>C n.274G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968059C>T | CA509343623 | RSPO4 | c.159G>A (p.Arg53=) c.207G>A (p.Arg69=) n.279G>A n.274G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968060C>A | CA407970719 | RSPO4 | c.158G>T (p.Arg53Met) c.206G>T (p.Arg69Met) n.278G>T n.273G>T | |
| 20 | g.968060C= | CA2345447473 | RSPO4 | c.158G= (p.Arg53=) c.206G= (p.Arg69=) n.278G= n.273G= | |
| 20 | g.968060C>G | CA407970714 | RSPO4 | c.158G>C (p.Arg53Thr) c.206G>C (p.Arg69Thr) n.278G>C n.273G>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968060C>T | CA407970716 | RSPO4 | c.158G>A (p.Arg53Lys) c.206G>A (p.Arg69Lys) n.278G>A n.273G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968061T>A | CA407970722 | RSPO4 | c.157A>T (p.Arg53Trp) c.205A>T (p.Arg69Trp) n.277A>T n.272A>T | |
| 20 | g.968061T>C | CA407970724 | RSPO4 | c.157A>G (p.Arg53Gly) c.205A>G (p.Arg69Gly) n.277A>G n.272A>G | |
| 20 | g.968061T>G | CA509343627 | RSPO4 | c.157A>C (p.Arg53=) c.205A>C (p.Arg69=) n.277A>C n.272A>C | |
| 20 | g.968062C>A | CA407970727 | RSPO4 | c.156G>T (p.Gln52His) c.204G>T (p.Gln68His) n.276G>T n.271G>T | |
| 20 | g.968062C= | CA2345447475 | RSPO4 | c.156G= (p.Gln52=) c.204G= (p.Gln68=) n.276G= n.271G= | |
| 20 | g.968062C>G | CA407970729 | RSPO4 | c.156G>C (p.Gln52His) c.204G>C (p.Gln68His) n.276G>C n.271G>C | |
| 20 | g.968062C>T | CA509343628 | RSPO4 | c.156G>A (p.Gln52=) c.204G>A (p.Gln68=) n.276G>A n.271G>A | dbSNP gnomAD v4 |
| 20 | g.968063T>A | CA407970731 | RSPO4 | c.155A>T (p.Gln52Leu) c.203A>T (p.Gln68Leu) n.275A>T n.270A>T | |
| 20 | g.968063T>C | CA9725766 | RSPO4 | c.155A>G (p.Gln52Arg) c.203A>G (p.Gln68Arg) n.275A>G n.270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968063T>G | CA407970735 | RSPO4 | c.155A>C (p.Gln52Pro) c.203A>C (p.Gln68Pro) n.275A>C n.270A>C | |
| 20 | g.968063T= | CA2345447477 | RSPO4 | c.155A= (p.Gln52=) c.203A= (p.Gln68=) n.275A= n.270A= | |
| 20 | g.968064G>A | CA407970738 | RSPO4 | c.154C>T (p.Gln52Ter) c.202C>T (p.Gln68Ter) n.274C>T n.269C>T | |
| 20 | g.968064G>C | CA407970740 | RSPO4 | c.154C>G (p.Gln52Glu) c.202C>G (p.Gln68Glu) n.274C>G n.269C>G | |
| 20 | g.968064G>T | CA407970743 | RSPO4 | c.154C>A (p.Gln52Lys) c.202C>A (p.Gln68Lys) n.274C>A n.269C>A | |
| 20 | g.968066_968069del | CA2651557741 | RSPO4 | c.151_154del (p.Gln51ArgfsTer?) c.199_202del (p.Gln67ArgfsTer?) n.271_274del n.266_269del | gnomAD v4 |
| 20 | g.968065C>A | CA407970749 | RSPO4 | c.153G>T (p.Gln51His) c.201G>T (p.Gln67His) n.273G>T n.268G>T | |
| 20 | g.968065C= | CA2345447481 | RSPO4 | c.153G= (p.Gln51=) c.201G= (p.Gln67=) n.273G= n.268G= | |
| 20 | g.968065C>G | CA407970747 | RSPO4 | c.153G>C (p.Gln51His) c.201G>C (p.Gln67His) n.273G>C n.268G>C | |
| 20 | g.968065C>T | CA9725767 | RSPO4 | c.153G>A (p.Gln51=) c.201G>A (p.Gln67=) n.273G>A n.268G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968066T>A | CA407970753 | RSPO4 | c.152A>T (p.Gln51Leu) c.200A>T (p.Gln67Leu) n.272A>T n.267A>T | |
| 20 | g.968066T>C | CA407970757 | RSPO4 | c.152A>G (p.Gln51Arg) c.200A>G (p.Gln67Arg) n.272A>G n.267A>G | |
| 20 | g.968066T>G | CA407970755 | RSPO4 | c.152A>C (p.Gln51Pro) c.200A>C (p.Gln67Pro) n.272A>C n.267A>C | |
| 20 | g.968066dup | CA2651557744 | RSPO4 | c.152dup (p.Gln52AlafsTer?) c.200dup (p.Gln68AlafsTer?) n.272dup n.267dup | gnomAD v4 |
| 20 | g.968067G>A | CA407970760 | RSPO4 | c.151C>T (p.Gln51Ter) c.199C>T (p.Gln67Ter) n.271C>T n.266C>T | dbSNP gnomAD v2 |
| 20 | g.968067G>C | CA407970763 | RSPO4 | c.151C>G (p.Gln51Glu) c.199C>G (p.Gln67Glu) n.271C>G n.266C>G | |
| 20 | g.968067G= | CA2345447482 | RSPO4 | c.151C= (p.Gln51=) c.199C= (p.Gln67=) n.271C= n.266C= | |
| 20 | g.968067G>T | CA407970765 | RSPO4 | c.151C>A (p.Gln51Lys) c.199C>A (p.Gln67Lys) n.271C>A n.266C>A | |
| 20 | g.968068G>A | CA509343632 | RSPO4 | c.150C>T (p.Cys50=) c.198C>T (p.Cys66=) n.270C>T n.265C>T | gnomAD v4 |
| 20 | g.968068G>C | CA407970768 | RSPO4 | c.150C>G (p.Cys50Trp) c.198C>G (p.Cys66Trp) n.270C>G n.265C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968068G= | CA2345447484 | RSPO4 | c.150C= (p.Cys50=) c.198C= (p.Cys66=) n.270C= n.265C= | |
| 20 | g.968068G>T | CA407970769 | RSPO4 | c.150C>A (p.Cys50Ter) c.198C>A (p.Cys66Ter) n.270C>A n.265C>A | |
| 20 | g.968069C>A | CA407970772 | RSPO4 | c.149G>T (p.Cys50Phe) c.197G>T (p.Cys66Phe) n.269G>T n.264G>T | |
| 20 | g.968069C>G | CA407970774 | RSPO4 | c.149G>C (p.Cys50Ser) c.197G>C (p.Cys66Ser) n.269G>C n.264G>C | |
| 20 | g.968069C>T | CA407970775 | RSPO4 | c.149G>A (p.Cys50Tyr) c.197G>A (p.Cys66Tyr) n.269G>A n.264G>A | dbSNP gnomAD v4 |
| 20 | g.968070A>C | CA407970778 | RSPO4 | c.148T>G (p.Cys50Gly) c.196T>G (p.Cys66Gly) n.268T>G n.263T>G | |
| 20 | g.968070A>G | CA407970781 | RSPO4 | c.148T>C (p.Cys50Arg) c.196T>C (p.Cys66Arg) n.268T>C n.263T>C | |
| 20 | g.968070A>T | CA407970783 | RSPO4 | c.148T>A (p.Cys50Ser) c.196T>A (p.Cys66Ser) n.268T>A n.263T>A | |
| 20 | g.968070_968073del | CA645611897 | RSPO4 | c.145_148del (p.Thr49AlafsTer?) c.193_196del (p.Thr65AlafsTer?) n.265_268del n.260_263del | COSMIC |
| 20 | g.968071G>A | CA509343633 | RSPO4 | c.147C>T (p.Thr49=) c.195C>T (p.Thr65=) n.267C>T n.262C>T | |
| 20 | g.968071G>C | CA509343635 | RSPO4 | c.147C>G (p.Thr49=) c.195C>G (p.Thr65=) n.267C>G n.262C>G | |
| 20 | g.968071G>T | CA509343634 | RSPO4 | c.147C>A (p.Thr49=) c.195C>A (p.Thr65=) n.267C>A n.262C>A | |
| 20 | g.968072G>A | CA310719553 | RSPO4 | c.146C>T (p.Thr49Ile) c.194C>T (p.Thr65Ile) n.266C>T n.261C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.968072G>C | CA407970788 | RSPO4 | c.146C>G (p.Thr49Ser) c.194C>G (p.Thr65Ser) n.266C>G n.261C>G | |
| 20 | g.968072G= | CA2345447486 | RSPO4 | c.146C= (p.Thr49=) c.194C= (p.Thr65=) n.266C= n.261C= | |
| 20 | g.968072G>T | CA407970786 | RSPO4 | c.146C>A (p.Thr49Asn) c.194C>A (p.Thr65Asn) n.266C>A n.261C>A | |
| 20 | g.968073T>A | CA407970792 | RSPO4 | c.145A>T (p.Thr49Ser) c.193A>T (p.Thr65Ser) n.265A>T n.260A>T | |
| 20 | g.968073T>C | CA407970795 | RSPO4 | c.145A>G (p.Thr49Ala) c.193A>G (p.Thr65Ala) n.265A>G n.260A>G | |
| 20 | g.968073T>G | CA9725768 | RSPO4 | c.145A>C (p.Thr49Pro) c.193A>C (p.Thr65Pro) n.265A>C n.260A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968073T= | CA2345447489 | RSPO4 | c.145A= (p.Thr49=) c.193A= (p.Thr65=) n.265A= n.260A= | |
| 20 | g.968074G>A | CA509343636 | RSPO4 | c.144C>T (p.Ser48=) c.192C>T (p.Ser64=) n.264C>T n.259C>T | |
| 20 | g.968074G>C | CA509343637 | RSPO4 | c.144C>G (p.Ser48=) c.192C>G (p.Ser64=) n.264C>G n.259C>G | dbSNP |
| 20 | g.968074G= | CA2345447493 | RSPO4 | c.144C= (p.Ser48=) c.192C= (p.Ser64=) n.264C= n.259C= | |
| 20 | g.968074G>T | CA509343638 | RSPO4 | c.144C>A (p.Ser48=) c.192C>A (p.Ser64=) n.264C>A n.259C>A | |
| 20 | g.968074_968079delinsGGAACA | CA2345447492 | RSPO4 | c.139_144delinsTGTTCC (p.Cys47=) c.187_192delinsTGTTCC (p.Cys63=) n.259_264delinsTGTTCC n.254_259delinsTGTTCC | |
| 20 | g.968075G>A | CA407970799 | RSPO4 | c.143C>T (p.Ser48Phe) c.191C>T (p.Ser64Phe) n.263C>T n.258C>T | gnomAD v4 |
| 20 | g.968075G>C | CA407970801 | RSPO4 | c.143C>G (p.Ser48Cys) c.191C>G (p.Ser64Cys) n.263C>G n.258C>G | |
| 20 | g.968075G>T | CA407970804 | RSPO4 | c.143C>A (p.Ser48Tyr) c.191C>A (p.Ser64Tyr) n.263C>A n.258C>A | |
| 20 | g.968076_968080del | CA920150167 | RSPO4 | c.139_143del (p.Cys47HisfsTer?) c.187_191del (p.Cys63HisfsTer?) n.259_263del n.254_258del | dbSNP |
| 20 | g.968076A= | CA2345447498 | RSPO4 | c.142T= (p.Ser48=) c.190T= (p.Ser64=) n.262T= n.257T= | |
| 20 | g.968076A>C | CA407970806 | RSPO4 | c.142T>G (p.Ser48Ala) c.190T>G (p.Ser64Ala) n.262T>G n.257T>G | dbSNP gnomAD v4 |
| 20 | g.968076A>G | CA407970808 | RSPO4 | c.142T>C (p.Ser48Pro) c.190T>C (p.Ser64Pro) n.262T>C n.257T>C | dbSNP gnomAD v2 |
| 20 | g.968076A>T | CA407970809 | RSPO4 | c.142T>A (p.Ser48Thr) c.190T>A (p.Ser64Thr) n.262T>A n.257T>A | |
| 20 | g.968077A= | CA2345447500 | RSPO4 | c.141T= (p.Cys47=) c.189T= (p.Cys63=) n.261T= n.256T= | |
| 20 | g.968077A>C | CA9725769 | RSPO4 | c.141T>G (p.Cys47Trp) c.189T>G (p.Cys63Trp) n.261T>G n.256T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968077A>G | CA509343639 | RSPO4 | c.141T>C (p.Cys47=) c.189T>C (p.Cys63=) n.261T>C n.256T>C | gnomAD v4 |
| 20 | g.968077A>T | CA407970812 | RSPO4 | c.141T>A (p.Cys47Ter) c.189T>A (p.Cys63Ter) n.261T>A n.256T>A | |
| 20 | g.968078C>A | CA407970820 | RSPO4 | c.140G>T (p.Cys47Phe) c.188G>T (p.Cys63Phe) n.260G>T n.255G>T | |
| 20 | g.968078C>G | CA407970818 | RSPO4 | c.140G>C (p.Cys47Ser) c.188G>C (p.Cys63Ser) n.260G>C n.255G>C | |
| 20 | g.968078C>T | CA407970815 | RSPO4 | c.140G>A (p.Cys47Tyr) c.188G>A (p.Cys63Tyr) n.260G>A n.255G>A | |
| 20 | g.968079A>C | CA407970823 | RSPO4 | c.139T>G (p.Cys47Gly) c.187T>G (p.Cys63Gly) n.259T>G n.254T>G | |
| 20 | g.968079A>G | CA407970824 | RSPO4 | c.139T>C (p.Cys47Arg) c.187T>C (p.Cys63Arg) n.259T>C n.254T>C | |
| 20 | g.968079A>T | CA407970826 | RSPO4 | c.139T>A (p.Cys47Ser) c.187T>A (p.Cys63Ser) n.259T>A n.254T>A | |
| 20 | g.968080G>A | CA509343640 | RSPO4 | c.138C>T (p.Gly46=) c.186C>T (p.Gly62=) n.258C>T n.253C>T | |
| 20 | g.968080G>C | CA509343641 | RSPO4 | c.138C>G (p.Gly46=) c.186C>G (p.Gly62=) n.258C>G n.253C>G | |
| 20 | g.968080G>T | CA509343642 | RSPO4 | c.138C>A (p.Gly46=) c.186C>A (p.Gly62=) n.258C>A n.253C>A | |
| 20 | g.968080_968081delinsGC | CA2345447502 | RSPO4 | c.137_138delinsGC (p.Gly46=) c.185_186delinsGC (p.Gly62=) n.257_258delinsGC n.252_253delinsGC | |
| 20 | g.968081C>A | CA407970829 | RSPO4 | c.137G>T (p.Gly46Val) c.185G>T (p.Gly62Val) n.257G>T n.252G>T | gnomAD v4 |
| 20 | g.968081C= | CA2345447505 | RSPO4 | c.137G= (p.Gly46=) c.185G= (p.Gly62=) n.257G= n.252G= | |
| 20 | g.968081C>G | CA407970832 | RSPO4 | c.137G>C (p.Gly46Ala) c.185G>C (p.Gly62Ala) n.257G>C n.252G>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968081C>T | CA407970834 | RSPO4 | c.137G>A (p.Gly46Asp) c.185G>A (p.Gly62Asp) n.257G>A n.252G>A | |
| 20 | g.968082del | CA2345447508 | RSPO4 | c.137del (p.Gly46AlafsTer?) c.185del (p.Gly62AlafsTer?) n.257del n.252del | dbSNP |
| 20 | g.968082C>A | CA407970841 | RSPO4 | c.136G>T (p.Gly46Cys) c.184G>T (p.Gly62Cys) n.256G>T n.251G>T | |
| 20 | g.968082C= | CA2345447510 | RSPO4 | c.136G= (p.Gly46=) c.184G= (p.Gly62=) n.256G= n.251G= | |
| 20 | g.968082C>G | CA407970837 | RSPO4 | c.136G>C (p.Gly46Arg) c.184G>C (p.Gly62Arg) n.256G>C n.251G>C | |
| 20 | g.968082C>T | CA9725770 | RSPO4 | c.136G>A (p.Gly46Ser) c.184G>A (p.Gly62Ser) n.256G>A n.251G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968083G>A | CA509343643 | RSPO4 | c.135C>T (p.Asn45=) c.183C>T (p.Asn61=) n.255C>T n.250C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.968083G>C | CA407970844 | RSPO4 | c.135C>G (p.Asn45Lys) c.183C>G (p.Asn61Lys) n.255C>G n.250C>G | dbSNP gnomAD v2 |
| 20 | g.968083G= | CA2345447513 | RSPO4 | c.135C= (p.Asn45=) c.183C= (p.Asn61=) n.255C= n.250C= | |
| 20 | g.968083G>T | CA407970846 | RSPO4 | c.135C>A (p.Asn45Lys) c.183C>A (p.Asn61Lys) n.255C>A n.250C>A | |
| 20 | g.968084T>A | CA407970849 | RSPO4 | c.134A>T (p.Asn45Ile) c.182A>T (p.Asn61Ile) n.254A>T n.249A>T | |
| 20 | g.968084T>C | CA9725771 | RSPO4 | c.134A>G (p.Asn45Ser) c.182A>G (p.Asn61Ser) n.254A>G n.249A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968084T>G | CA407970851 | RSPO4 | c.134A>C (p.Asn45Thr) c.182A>C (p.Asn61Thr) n.254A>C n.249A>C | |
| 20 | g.968084T= | CA2345447518 | RSPO4 | c.134A= (p.Asn45=) c.182A= (p.Asn61=) n.254A= n.249A= | |
| 20 | g.968085T>A | CA407970853 | RSPO4 | c.133A>T (p.Asn45Tyr) c.181A>T (p.Asn61Tyr) n.253A>T n.248A>T | |
| 20 | g.968085T>C | CA407970858 | RSPO4 | c.133A>G (p.Asn45Asp) c.181A>G (p.Asn61Asp) n.253A>G n.248A>G | dbSNP |
| 20 | g.968085T>G | CA407970856 | RSPO4 | c.133A>C (p.Asn45His) c.181A>C (p.Asn61His) n.253A>C n.248A>C | |
| 20 | g.968085T= | CA2345447520 | RSPO4 | c.133A= (p.Asn45=) c.181A= (p.Asn61=) n.253A= n.248A= | |
| 20 | g.968086C>A | CA407970861 | RSPO4 | c.132G>T (p.Glu44Asp) c.180G>T (p.Glu60Asp) n.252G>T n.247G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.968086C= | CA2345447522 | RSPO4 | c.132G= (p.Glu44=) c.180G= (p.Glu60=) n.252G= n.247G= | |
| 20 | g.968086C>G | CA407970863 | RSPO4 | c.132G>C (p.Glu44Asp) c.180G>C (p.Glu60Asp) n.252G>C n.247G>C | dbSNP |
| 20 | g.968086C>T | CA509343644 | RSPO4 | c.132G>A (p.Glu44=) c.180G>A (p.Glu60=) n.252G>A n.247G>A | |
| 20 | g.968087T>A | CA407970867 | RSPO4 | c.131A>T (p.Glu44Val) c.179A>T (p.Glu60Val) n.251A>T n.246A>T | |
| 20 | g.968087T>C | CA407970868 | RSPO4 | c.131A>G (p.Glu44Gly) c.179A>G (p.Glu60Gly) n.251A>G n.246A>G | |
| 20 | g.968087T>G | CA407970871 | RSPO4 | c.131A>C (p.Glu44Ala) c.179A>C (p.Glu60Ala) n.251A>C n.246A>C | |
| 20 | g.968088C>A | CA407970874 | RSPO4 | c.130G>T (p.Glu44Ter) c.178G>T (p.Glu60Ter) n.250G>T n.245G>T | |
| 20 | g.968088C= | CA2345447524 | RSPO4 | c.130G= (p.Glu44=) c.178G= (p.Glu60=) n.250G= n.245G= | |
| 20 | g.968088C>G | CA407970875 | RSPO4 | c.130G>C (p.Glu44Gln) c.178G>C (p.Glu60Gln) n.250G>C n.245G>C | |
| 20 | g.968088C>T | CA9725772 | RSPO4 | c.130G>A (p.Glu44Lys) c.178G>A (p.Glu60Lys) n.250G>A n.245G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968089C>A | CA407970879 | RSPO4 | c.129G>T (p.Glu43Asp) c.177G>T (p.Glu59Asp) n.249G>T n.244G>T | |
| 20 | g.968089C= | CA2345447527 | RSPO4 | c.129G= (p.Glu43=) c.177G= (p.Glu59=) n.249G= n.244G= | |
| 20 | g.968089C>G | CA407970881 | RSPO4 | c.129G>C (p.Glu43Asp) c.177G>C (p.Glu59Asp) n.249G>C n.244G>C | |
| 20 | g.968089C>T | CA9725773 | RSPO4 | c.129G>A (p.Glu43=) c.177G>A (p.Glu59=) n.249G>A n.244G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968090T>A | CA407970888 | RSPO4 | c.128A>T (p.Glu43Val) c.176A>T (p.Glu59Val) n.248A>T n.243A>T | |
| 20 | g.968090T>C | CA407970890 | RSPO4 | c.128A>G (p.Glu43Gly) c.176A>G (p.Glu59Gly) n.248A>G n.243A>G | |
| 20 | g.968090T>G | CA407970886 | RSPO4 | c.128A>C (p.Glu43Ala) c.176A>C (p.Glu59Ala) n.248A>C n.243A>C | |
| 20 | g.968091C>A | CA407970895 | RSPO4 | c.127G>T (p.Glu43Ter) c.175G>T (p.Glu59Ter) n.247G>T n.242G>T | gnomAD v4 |
| 20 | g.968091C= | CA2345447530 | RSPO4 | c.127G= (p.Glu43=) c.175G= (p.Glu59=) n.247G= n.242G= | |
| 20 | g.968091C>G | CA407970892 | RSPO4 | c.127G>C (p.Glu43Gln) c.175G>C (p.Glu59Gln) n.247G>C n.242G>C | |
| 20 | g.968091C>T | CA9725774 | RSPO4 | c.127G>A (p.Glu43Lys) c.175G>A (p.Glu59Lys) n.247G>A n.242G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968092T>A | CA509343646 | RSPO4 | c.126A>T (p.Ser42=) c.174A>T (p.Ser58=) n.246A>T n.241A>T | |
| 20 | g.968092T>C | CA9725775 | RSPO4 | c.126A>G (p.Ser42=) c.174A>G (p.Ser58=) n.246A>G n.241A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968092T>G | CA509343647 | RSPO4 | c.126A>C (p.Ser42=) c.174A>C (p.Ser58=) n.246A>C n.241A>C | |
| 20 | g.968092T= | CA2345447532 | RSPO4 | c.126A= (p.Ser42=) c.174A= (p.Ser58=) n.246A= n.241A= | |
| 20 | g.968093G>A | CA407970900 | RSPO4 | c.125C>T (p.Ser42Leu) c.173C>T (p.Ser58Leu) n.245C>T n.240C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.968093G>C | CA407970901 | RSPO4 | c.125C>G (p.Ser42Ter) c.173C>G (p.Ser58Ter) n.245C>G n.240C>G | |
| 20 | g.968093G= | CA2345447533 | RSPO4 | c.125C= (p.Ser42=) c.173C= (p.Ser58=) n.245C= n.240C= | |
| 20 | g.968093G>T | CA407970904 | RSPO4 | c.125C>A (p.Ser42Ter) c.173C>A (p.Ser58Ter) n.245C>A n.240C>A | |
| 20 | g.968094A>C | CA407970907 | RSPO4 | c.124T>G (p.Ser42Ala) c.172T>G (p.Ser58Ala) n.244T>G n.239T>G | |
| 20 | g.968094A>G | CA407970909 | RSPO4 | c.124T>C (p.Ser42Pro) c.172T>C (p.Ser58Pro) n.244T>C n.239T>C | |
| 20 | g.968094A>T | CA407970912 | RSPO4 | c.124T>A (p.Ser42Thr) c.172T>A (p.Ser58Thr) n.244T>A n.239T>A | |
| 20 | g.968095G>A | CA509343648 | RSPO4 | c.123C>T (p.Cys41=) c.171C>T (p.Cys57=) n.243C>T n.238C>T | dbSNP |
| 20 | g.968095G>C | CA407970915 | RSPO4 | c.123C>G (p.Cys41Trp) c.171C>G (p.Cys57Trp) n.243C>G n.238C>G | |
| 20 | g.968095G= | CA2345447535 | RSPO4 | c.123C= (p.Cys41=) c.171C= (p.Cys57=) n.243C= n.238C= | |
| 20 | g.968095G>T | CA407970918 | RSPO4 | c.123C>A (p.Cys41Ter) c.171C>A (p.Cys57Ter) n.243C>A n.238C>A | |
| 20 | g.968096C>A | CA407970921 | RSPO4 | c.122G>T (p.Cys41Phe) c.170G>T (p.Cys57Phe) n.242G>T n.237G>T | gnomAD v4 |
| 20 | g.968096C>G | CA407970923 | RSPO4 | c.122G>C (p.Cys41Ser) c.170G>C (p.Cys57Ser) n.242G>C n.237G>C | |
| 20 | g.968096C>T | CA407970925 | RSPO4 | c.122G>A (p.Cys41Tyr) c.170G>A (p.Cys57Tyr) n.242G>A n.237G>A | |
| 20 | g.968097A= | CA2345447537 | RSPO4 | c.121T= (p.Cys41=) c.169T= (p.Cys57=) n.241T= n.236T= | |
| 20 | g.968097A>C | CA407970931 | RSPO4 | c.121T>G (p.Cys41Gly) c.169T>G (p.Cys57Gly) n.241T>G n.236T>G | |
| 20 | g.968097A>G | CA9725776 | RSPO4 | c.121T>C (p.Cys41Arg) c.169T>C (p.Cys57Arg) n.241T>C n.236T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968097A>T | CA407970928 | RSPO4 | c.121T>A (p.Cys41Ser) c.169T>A (p.Cys57Ser) n.241T>A n.236T>A | |
| 20 | g.968098G>A | CA509343650 | RSPO4 | c.120C>T (p.Ile40=) c.168C>T (p.Ile56=) n.240C>T n.235C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.968098G>C | CA407970933 | RSPO4 | c.120C>G (p.Ile40Met) c.168C>G (p.Ile56Met) n.240C>G n.235C>G | |
| 20 | g.968098G= | CA2345447538 | RSPO4 | c.120C= (p.Ile40=) c.168C= (p.Ile56=) n.240C= n.235C= | |
| 20 | g.968098G>T | CA509343649 | RSPO4 | c.120C>A (p.Ile40=) c.168C>A (p.Ile56=) n.240C>A n.235C>A | |
| 20 | g.968099A>C | CA407970935 | RSPO4 | c.119T>G (p.Ile40Ser) c.167T>G (p.Ile56Ser) n.239T>G n.234T>G | |
| 20 | g.968099A>G | CA407970937 | RSPO4 | c.119T>C (p.Ile40Thr) c.167T>C (p.Ile56Thr) n.239T>C n.234T>C | |
| 20 | g.968099A>T | CA407970939 | RSPO4 | c.119T>A (p.Ile40Asn) c.167T>A (p.Ile56Asn) n.239T>A n.234T>A | |
| 20 | g.968100T>A | CA407970942 | RSPO4 | c.118A>T (p.Ile40Phe) c.166A>T (p.Ile56Phe) n.238A>T n.233A>T | |
| 20 | g.968100T>C | CA407970944 | RSPO4 | c.118A>G (p.Ile40Val) c.166A>G (p.Ile56Val) n.238A>G n.233A>G | dbSNP gnomAD v4 |
| 20 | g.968100T>G | CA407970947 | RSPO4 | c.118A>C (p.Ile40Leu) c.166A>C (p.Ile56Leu) n.238A>C n.233A>C | |
| 20 | g.968100T= | CA2345447540 | RSPO4 | c.118A= (p.Ile40=) c.166A= (p.Ile56=) n.238A= n.233A= | |
| 20 | g.968101G>A | CA509343651 | RSPO4 | c.117C>T (p.Ile39=) c.165C>T (p.Ile55=) n.237C>T n.232C>T | dbSNP COSMIC |
| 20 | g.968101G>C | CA407970948 | RSPO4 | c.117C>G (p.Ile39Met) c.165C>G (p.Ile55Met) n.237C>G n.232C>G | |
| 20 | g.968101G= | CA2345447544 | RSPO4 | c.117C= (p.Ile39=) c.165C= (p.Ile55=) n.237C= n.232C= | |
| 20 | g.968101G>T | CA509343652 | RSPO4 | c.117C>A (p.Ile39=) c.165C>A (p.Ile55=) n.237C>A n.232C>A | |
| 20 | g.968102A= | CA2345447547 | RSPO4 | c.116T= (p.Ile39=) c.164T= (p.Ile55=) n.236T= n.231T= | |
| 20 | g.968102A>C | CA407970952 | RSPO4 | c.116T>G (p.Ile39Ser) c.164T>G (p.Ile55Ser) n.236T>G n.231T>G | |
| 20 | g.968102A>G | CA407970953 | RSPO4 | c.116T>C (p.Ile39Thr) c.164T>C (p.Ile55Thr) n.236T>C n.231T>C | COSMIC |
| 20 | g.968102A>T | CA407970956 | RSPO4 | c.116T>A (p.Ile39Asn) c.164T>A (p.Ile55Asn) n.236T>A n.231T>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.968103T>A | CA407970962 | RSPO4 | c.115A>T (p.Ile39Phe) c.163A>T (p.Ile55Phe) n.235A>T n.230A>T | |
| 20 | g.968103T>C | CA310719573 | RSPO4 | c.115A>G (p.Ile39Val) c.163A>G (p.Ile55Val) n.235A>G n.230A>G | dbSNP gnomAD v4 |
| 20 | g.968103T>G | CA407970959 | RSPO4 | c.115A>C (p.Ile39Leu) c.163A>C (p.Ile55Leu) n.235A>C n.230A>C | |
| 20 | g.968103T= | CA2345447549 | RSPO4 | c.115A= (p.Ile39=) c.163A= (p.Ile55=) n.235A= n.230A= | |
| 20 | g.968104A= | CA2345447553 | RSPO4 | c.114T= (p.Cys38=) c.162T= (p.Cys54=) n.234T= n.229T= | |
| 20 | g.968104A>C | CA407970966 | RSPO4 | c.114T>G (p.Cys38Trp) c.162T>G (p.Cys54Trp) n.234T>G n.229T>G | |
| 20 | g.968104A>G | CA9725777 | RSPO4 | c.114T>C (p.Cys38=) c.162T>C (p.Cys54=) n.234T>C n.229T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968104A>T | CA407970968 | RSPO4 | c.114T>A (p.Cys38Ter) c.162T>A (p.Cys54Ter) n.234T>A n.229T>A | |
| 20 | g.968105C>A | CA407970971 | RSPO4 | c.113G>T (p.Cys38Phe) c.161G>T (p.Cys54Phe) n.233G>T n.228G>T | |
| 20 | g.968105C= | CA2345447555 | RSPO4 | c.113G= (p.Cys38=) c.161G= (p.Cys54=) n.233G= n.228G= | |
| 20 | g.968105C>G | CA407970973 | RSPO4 | c.113G>C (p.Cys38Ser) c.161G>C (p.Cys54Ser) n.233G>C n.228G>C | |
| 20 | g.968105C>T | CA310719578 | RSPO4 | c.113G>A (p.Cys38Tyr) c.161G>A (p.Cys54Tyr) n.233G>A n.228G>A | dbSNP |
| 20 | g.968106A= | CA2345447557 | RSPO4 | c.112T= (p.Cys38=) c.160T= (p.Cys54=) n.232T= n.227T= | |
| 20 | g.968106A>C | CA407970977 | RSPO4 | c.112T>G (p.Cys38Gly) c.160T>G (p.Cys54Gly) n.232T>G n.227T>G | |
| 20 | g.968106A>G | CA407970978 | RSPO4 | c.112T>C (p.Cys38Arg) c.160T>C (p.Cys54Arg) n.232T>C n.227T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.968106A>T | CA407970980 | RSPO4 | c.112T>A (p.Cys38Ser) c.160T>A (p.Cys54Ser) n.232T>A n.227T>A | |
| 20 | g.968107G>A | CA509343653 | RSPO4 | c.111C>T (p.Gly37=) c.159C>T (p.Gly53=) n.231C>T n.226C>T | gnomAD v4 |
| 20 | g.968107G>C | CA509343654 | RSPO4 | c.111C>G (p.Gly37=) c.159C>G (p.Gly53=) n.231C>G n.226C>G | |
| 20 | g.968107G= | CA2345447558 | RSPO4 | c.111C= (p.Gly37=) c.159C= (p.Gly53=) n.231C= n.226C= | |
| 20 | g.968107G>T | CA9725778 | RSPO4 | c.111C>A (p.Gly37=) c.159C>A (p.Gly53=) n.231C>A n.226C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968108C>A | CA407970985 | RSPO4 | c.110G>T (p.Gly37Val) c.158G>T (p.Gly53Val) n.230G>T n.225G>T | |
| 20 | g.968108C>G | CA407970987 | RSPO4 | c.110G>C (p.Gly37Ala) c.158G>C (p.Gly53Ala) n.230G>C n.225G>C | |
| 20 | g.968108C>T | CA407970989 | RSPO4 | c.110G>A (p.Gly37Asp) c.158G>A (p.Gly53Asp) n.230G>A n.225G>A | |
| 20 | g.968110_968125del | CA2651557790 | RSPO4 | c.95_110del (p.Gly32AlafsTer?) c.143_158del (p.Gly48AlafsTer?) n.215_230del n.210_225del | gnomAD v4 |
| 20 | g.968109C>A | CA407970996 | RSPO4 | c.109G>T (p.Gly37Cys) c.157G>T (p.Gly53Cys) n.229G>T n.224G>T | |
| 20 | g.968109C>G | CA407970994 | RSPO4 | c.109G>C (p.Gly37Arg) c.157G>C (p.Gly53Arg) n.229G>C n.224G>C | |
| 20 | g.968109C>T | CA407970992 | RSPO4 | c.109G>A (p.Gly37Ser) c.157G>A (p.Gly53Ser) n.229G>A n.224G>A | gnomAD v4 |
| 20 | g.968110T>A | CA509343656 | RSPO4 | c.108A>T (p.Thr36=) c.156A>T (p.Thr52=) n.228A>T n.223A>T | gnomAD v4 |
| 20 | g.968110T>C | CA509343657 | RSPO4 | c.108A>G (p.Thr36=) c.156A>G (p.Thr52=) n.228A>G n.223A>G | dbSNP gnomAD v4 |
| 20 | g.968110T>G | CA509343658 | RSPO4 | c.108A>C (p.Thr36=) c.156A>C (p.Thr52=) n.228A>C n.223A>C | |
| 20 | g.968110T= | CA2345447562 | RSPO4 | c.108A= (p.Thr36=) c.156A= (p.Thr52=) n.228A= n.223A= | |
| 20 | g.968111G>A | CA9725779 | RSPO4 | c.107C>T (p.Thr36Ile) c.155C>T (p.Thr52Ile) n.227C>T n.222C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968111G>C | CA9725780 | RSPO4 | c.107C>G (p.Thr36Arg) c.155C>G (p.Thr52Arg) n.227C>G n.222C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.968111G= | CA2345447565 | RSPO4 | c.107C= (p.Thr36=) c.155C= (p.Thr52=) n.227C= n.222C= | |
| 20 | g.968111G>T | CA407971002 | RSPO4 | c.107C>A (p.Thr36Lys) c.155C>A (p.Thr52Lys) n.227C>A n.222C>A | |
| 20 | g.968112T>A | CA407971005 | RSPO4 | c.106A>T (p.Thr36Ser) c.154A>T (p.Thr52Ser) n.226A>T n.221A>T | |
| 20 | g.968112T>C | CA407971007 | RSPO4 | c.106A>G (p.Thr36Ala) c.154A>G (p.Thr52Ala) n.226A>G n.221A>G | gnomAD v4 |
| 20 | g.968112T>G | CA407971009 | RSPO4 | c.106A>C (p.Thr36Pro) c.154A>C (p.Thr52Pro) n.226A>C n.221A>C | |
| 20 | g.968113G>A | CA509343659 | RSPO4 | c.105C>T (p.Cys35=) c.153C>T (p.Cys51=) n.225C>T n.220C>T | |
| 20 | g.968113G>C | CA407971011 | RSPO4 | c.105C>G (p.Cys35Trp) c.153C>G (p.Cys51Trp) n.225C>G n.220C>G | |
| 20 | g.968113G= | CA2345447568 | RSPO4 | c.105C= (p.Cys35=) c.153C= (p.Cys51=) n.225C= n.220C= | |
| 20 | g.968113G>T | CA407971012 | RSPO4 | c.105C>A (p.Cys35Ter) c.153C>A (p.Cys51Ter) n.225C>A n.220C>A | |
| 20 | g.968114C>A | CA407971013 | RSPO4 | c.104G>T (p.Cys35Phe) c.152G>T (p.Cys51Phe) n.224G>T n.219G>T | gnomAD v4 COSMIC |
| 20 | g.968114C>G | CA407971014 | RSPO4 | c.104G>C (p.Cys35Ser) c.152G>C (p.Cys51Ser) n.224G>C n.219G>C | |
| 20 | g.968114C>T | CA407971017 | RSPO4 | c.104G>A (p.Cys35Tyr) c.152G>A (p.Cys51Tyr) n.224G>A n.219G>A | |
| 20 | g.968114_968115dup | CA310719586 | RSPO4 | c.103_104dup (p.Thr36AlafsTer?) c.151_152dup (p.Thr52AlafsTer?) n.223_224dup n.218_219dup | dbSNP gnomAD v4 |
| 20 | g.968115A>C | CA407971019 | RSPO4 | c.103T>G (p.Cys35Gly) c.151T>G (p.Cys51Gly) n.223T>G n.218T>G | |
| 20 | g.968115A>G | CA407971021 | RSPO4 | c.103T>C (p.Cys35Arg) c.151T>C (p.Cys51Arg) n.223T>C n.218T>C | |
| 20 | g.968115A>T | CA407971023 | RSPO4 | c.103T>A (p.Cys35Ser) c.151T>A (p.Cys51Ser) n.223T>A n.218T>A | |
| 20 | g.968116G>A | CA509343660 | RSPO4 | c.102C>T (p.Asn34=) c.150C>T (p.Asn50=) n.222C>T n.217C>T | dbSNP gnomAD v4 |
| 20 | g.968116G>C | CA407971027 | RSPO4 | c.102C>G (p.Asn34Lys) c.150C>G (p.Asn50Lys) n.222C>G n.217C>G | |
| 20 | g.968116G= | CA2345447572 | RSPO4 | c.102C= (p.Asn34=) c.150C= (p.Asn50=) n.222C= n.217C= | |
| 20 | g.968116G>T | CA407971029 | RSPO4 | c.102C>A (p.Asn34Lys) c.150C>A (p.Asn50Lys) n.222C>A n.217C>A | |
| 20 | g.968117T>A | CA407971032 | RSPO4 | c.101A>T (p.Asn34Ile) c.149A>T (p.Asn50Ile) n.221A>T n.216A>T | gnomAD v4 |
| 20 | g.968117T>C | CA407971036 | RSPO4 | c.101A>G (p.Asn34Ser) c.149A>G (p.Asn50Ser) n.221A>G n.216A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.968117T>G | CA407971034 | RSPO4 | c.101A>C (p.Asn34Thr) c.149A>C (p.Asn50Thr) n.221A>C n.216A>C | |
| 20 | g.968117T= | CA2345447575 | RSPO4 | c.101A= (p.Asn34=) c.149A= (p.Asn50=) n.221A= n.216A= | |
| 20 | g.968118T>A | CA407971039 | RSPO4 | c.100A>T (p.Asn34Tyr) c.148A>T (p.Asn50Tyr) n.220A>T n.215A>T | |
| 20 | g.968118T>C | CA407971040 | RSPO4 | c.100A>G (p.Asn34Asp) c.148A>G (p.Asn50Asp) n.220A>G n.215A>G | |
| 20 | g.968118T>G | CA407971042 | RSPO4 | c.100A>C (p.Asn34His) c.148A>C (p.Asn50His) n.220A>C n.215A>C | |
| 20 | g.968119G>A | CA509343661 | RSPO4 | c.99C>T (p.Gly33=) c.147C>T (p.Gly49=) n.219C>T n.214C>T | gnomAD v4 |
| 20 | g.968119G>C | CA509343662 | RSPO4 | c.99C>G (p.Gly33=) c.147C>G (p.Gly49=) n.219C>G n.214C>G | |
| 20 | g.968119G= | CA2345447576 | RSPO4 | c.99C= (p.Gly33=) c.147C= (p.Gly49=) n.219C= n.214C= | |
| 20 | g.968119G>T | CA509343663 | RSPO4 | c.99C>A (p.Gly33=) c.147C>A (p.Gly49=) n.219C>A n.214C>A | |
| 20 | g.968120C>A | CA407971047 | RSPO4 | c.98G>T (p.Gly33Val) c.146G>T (p.Gly49Val) n.218G>T n.213G>T | gnomAD v4 |
| 20 | g.968120C>G | CA407971050 | RSPO4 | c.98G>C (p.Gly33Ala) c.146G>C (p.Gly49Ala) n.218G>C n.213G>C | gnomAD v4 |
| 20 | g.968120C>T | CA407971052 | RSPO4 | c.98G>A (p.Gly33Asp) c.146G>A (p.Gly49Asp) n.218G>A n.213G>A | gnomAD v3 gnomAD v4 |
| 20 | g.968125dup | CA114830 | RSPO4 | c.98dup (p.Asn34GlnfsTer?) c.146dup (p.Asn50GlnfsTer?) n.218dup n.213dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968125del | CA2577315605 | RSPO4 | c.98del (p.Gly33AlafsTer?) c.146del (p.Gly49AlafsTer?) n.218del n.213del | dbSNP gnomAD v4 |
| 20 | g.968121C>A | CA407971056 | RSPO4 | c.97G>T (p.Gly33Cys) c.145G>T (p.Gly49Cys) n.217G>T n.212G>T | |
| 20 | g.968121C>G | CA407971057 | RSPO4 | c.97G>C (p.Gly33Arg) c.145G>C (p.Gly49Arg) n.217G>C n.212G>C | |
| 20 | g.968121C>T | CA407971060 | RSPO4 | c.97G>A (p.Gly33Ser) c.145G>A (p.Gly49Ser) n.217G>A n.212G>A | gnomAD v4 |
| 20 | g.968122C>A | CA509343664 | RSPO4 | c.96G>T (p.Gly32=) c.144G>T (p.Gly48=) n.216G>T n.211G>T | |
| 20 | g.968122C= | CA2345447582 | RSPO4 | c.96G= (p.Gly32=) c.144G= (p.Gly48=) n.216G= n.211G= | |
| 20 | g.968122C>G | CA509343665 | RSPO4 | c.96G>C (p.Gly32=) c.144G>C (p.Gly48=) n.216G>C n.211G>C | |
| 20 | g.968122C>T | CA509343666 | RSPO4 | c.96G>A (p.Gly32=) c.144G>A (p.Gly48=) n.216G>A n.211G>A | dbSNP |
| 20 | g.968123C>A | CA407971067 | RSPO4 | c.95G>T (p.Gly32Val) c.143G>T (p.Gly48Val) n.215G>T n.210G>T | |
| 20 | g.968123C= | CA2345447583 | RSPO4 | c.95G= (p.Gly32=) c.143G= (p.Gly48=) n.215G= n.210G= | |
| 20 | g.968123C>G | CA407971065 | RSPO4 | c.95G>C (p.Gly32Ala) c.143G>C (p.Gly48Ala) n.215G>C n.210G>C | |
| 20 | g.968123C>T | CA310719591 | RSPO4 | c.95G>A (p.Gly32Glu) c.143G>A (p.Gly48Glu) n.215G>A n.210G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968124C>A | CA407971070 | RSPO4 | c.94G>T (p.Gly32Trp) c.142G>T (p.Gly48Trp) n.214G>T n.209G>T | |
| 20 | g.968124C= | CA2345447585 | RSPO4 | c.94G= (p.Gly32=) c.142G= (p.Gly48=) n.214G= n.209G= | |
| 20 | g.968124C>G | CA407971072 | RSPO4 | c.94G>C (p.Gly32Arg) c.142G>C (p.Gly48Arg) n.214G>C n.209G>C | |
| 20 | g.968124C>T | CA9725781 | RSPO4 | c.94G>A (p.Gly32Arg) c.142G>A (p.Gly48Arg) n.214G>A n.209G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.968125C>A | CA9725782 | RSPO4 | c.93G>T (p.Leu31=) c.141G>T (p.Leu47=) n.213G>T n.208G>T | dbSNP ExAC gnomAD v4 |
| 20 | g.968125C= | CA2345447588 | RSPO4 | c.93G= (p.Leu31=) c.141G= (p.Leu47=) n.213G= n.208G= | |
| 20 | g.968125C>G | CA509343667 | RSPO4 | c.93G>C (p.Leu31=) c.141G>C (p.Leu47=) n.213G>C n.208G>C | |
| 20 | g.968125C>T | CA509343668 | RSPO4 | c.93G>A (p.Leu31=) c.141G>A (p.Leu47=) n.213G>A n.208G>A | |
| 20 | g.968126A>C | CA407971078 | RSPO4 | c.92T>G (p.Leu31Arg) c.140T>G (p.Leu47Arg) n.212T>G n.207T>G | |
| 20 | g.968126A>G | CA407971080 | RSPO4 | c.92T>C (p.Leu31Pro) c.140T>C (p.Leu47Pro) n.212T>C n.207T>C | |
| 20 | g.968126A>T | CA407971083 | RSPO4 | c.92T>A (p.Leu31Gln) c.140T>A (p.Leu47Gln) n.212T>A n.207T>A |