Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.45804366A>CCA507965394RSPH6Ac.1539T>G (p.Gly513=)
c.747T>G (p.Gly249=)
19g.45804366A>GCA507965396RSPH6Ac.1539T>C (p.Gly513=)
c.747T>C (p.Gly249=)
19g.45804366A>TCA507965398RSPH6Ac.1539T>A (p.Gly513=)
c.747T>A (p.Gly249=)
19g.45804367C>ACA9522648RSPH6Ac.1538G>T (p.Gly513Val)
c.746G>T (p.Gly249Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804367C=CA2338614999RSPH6Ac.1538G= (p.Gly513=)
c.746G= (p.Gly249=)
19g.45804367C>GCA406404801RSPH6Ac.1538G>C (p.Gly513Ala)
c.746G>C (p.Gly249Ala)
19g.45804367C>TCA9522649RSPH6Ac.1538G>A (p.Gly513Asp)
c.746G>A (p.Gly249Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804368C>ACA406404802RSPH6Ac.1537G>T (p.Gly513Cys)
c.745G>T (p.Gly249Cys)
19g.45804368C>GCA406404803RSPH6Ac.1537G>C (p.Gly513Arg)
c.745G>C (p.Gly249Arg)
19g.45804368C>TCA406404804RSPH6Ac.1537G>A (p.Gly513Ser)
c.745G>A (p.Gly249Ser)
19g.45804369T>ACA406404805RSPH6Ac.1536A>T (p.Glu512Asp)
c.744A>T (p.Glu248Asp)
19g.45804369T>CCA507965405RSPH6Ac.1536A>G (p.Glu512=)
c.744A>G (p.Glu248=)
19g.45804369T>GCA406404806RSPH6Ac.1536A>C (p.Glu512Asp)
c.744A>C (p.Glu248Asp)
19g.45804369_45804372delinsTTCCCA2338615000RSPH6Ac.1533_1536delinsGGAA (p.Glu511=)
c.741_744delinsGGAA (p.Glu247=)
19g.45804370T>ACA406404808RSPH6Ac.1535A>T (p.Glu512Val)
c.743A>T (p.Glu248Val)
19g.45804370T>CCA406404809RSPH6Ac.1535A>G (p.Glu512Gly)
c.743A>G (p.Glu248Gly)
19g.45804370T>GCA406404807RSPH6Ac.1535A>C (p.Glu512Ala)
c.743A>C (p.Glu248Ala)
19g.45804378_45804380delCA9522650RSPH6Ac.1533_1535del (p.Glu512del)
c.741_743del (p.Glu248del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804371C>ACA406404810RSPH6Ac.1534G>T (p.Glu512Ter)
c.742G>T (p.Glu248Ter)
19g.45804371C>GCA406404811RSPH6Ac.1534G>C (p.Glu512Gln)
c.742G>C (p.Glu248Gln)
19g.45804371C>TCA406404812RSPH6Ac.1534G>A (p.Glu512Lys)
c.742G>A (p.Glu248Lys)
19g.45804372C>ACA406404813RSPH6Ac.1533G>T (p.Glu511Asp)
c.741G>T (p.Glu247Asp)
19g.45804372C=CA2338615001RSPH6Ac.1533G= (p.Glu511=)
c.741G= (p.Glu247=)
19g.45804372C>GCA406404814RSPH6Ac.1533G>C (p.Glu511Asp)
c.741G>C (p.Glu247Asp)
19g.45804372C>TCA9522651RSPH6Ac.1533G>A (p.Glu511=)
c.741G>A (p.Glu247=)
 dbSNP ExAC gnomAD v2
19g.45804373T>ACA406404817RSPH6Ac.1532A>T (p.Glu511Val)
c.740A>T (p.Glu247Val)
19g.45804373T>CCA406404815RSPH6Ac.1532A>G (p.Glu511Gly)
c.740A>G (p.Glu247Gly)
19g.45804373T>GCA406404816RSPH6Ac.1532A>C (p.Glu511Ala)
c.740A>C (p.Glu247Ala)
 dbSNP
19g.45804373T=CA2338615002RSPH6Ac.1532A= (p.Glu511=)
c.740A= (p.Glu247=)
19g.45804374C>ACA406404818RSPH6Ac.1531G>T (p.Glu511Ter)
c.739G>T (p.Glu247Ter)
19g.45804374C=CA2338615003RSPH6Ac.1531G= (p.Glu511=)
c.739G= (p.Glu247=)
19g.45804374C>GCA406404819RSPH6Ac.1531G>C (p.Glu511Gln)
c.739G>C (p.Glu247Gln)
19g.45804374C>TCA308997068RSPH6Ac.1531G>A (p.Glu511Lys)
c.739G>A (p.Glu247Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.45804375C>ACA406404820RSPH6Ac.1530G>T (p.Glu510Asp)
c.738G>T (p.Glu246Asp)
19g.45804375C>GCA406404821RSPH6Ac.1530G>C (p.Glu510Asp)
c.738G>C (p.Glu246Asp)
19g.45804375C>TCA507965419RSPH6Ac.1530G>A (p.Glu510=)
c.738G>A (p.Glu246=)
19g.45804376T>ACA406404822RSPH6Ac.1529A>T (p.Glu510Val)
c.737A>T (p.Glu246Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804376T>CCA406404824RSPH6Ac.1529A>G (p.Glu510Gly)
c.737A>G (p.Glu246Gly)
19g.45804376T>GCA406404823RSPH6Ac.1529A>C (p.Glu510Ala)
c.737A>C (p.Glu246Ala)
19g.45804376T=CA2338615004RSPH6Ac.1529A= (p.Glu510=)
c.737A= (p.Glu246=)
19g.45804377C>ACA406404825RSPH6Ac.1528G>T (p.Glu510Ter)
c.736G>T (p.Glu246Ter)
19g.45804377C=CA2338615005RSPH6Ac.1528G= (p.Glu510=)
c.736G= (p.Glu246=)
19g.45804377C>GCA406404826RSPH6Ac.1528G>C (p.Glu510Gln)
c.736G>C (p.Glu246Gln)
19g.45804377C>TCA406404827RSPH6Ac.1528G>A (p.Glu510Lys)
c.736G>A (p.Glu246Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.45804378C>ACA406404828RSPH6Ac.1527G>T (p.Glu509Asp)
c.735G>T (p.Glu245Asp)
19g.45804378C=CA2338615006RSPH6Ac.1527G= (p.Glu509=)
c.735G= (p.Glu245=)
19g.45804378C>GCA9522652RSPH6Ac.1527G>C (p.Glu509Asp)
c.735G>C (p.Glu245Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804378C>TCA507965424RSPH6Ac.1527G>A (p.Glu509=)
c.735G>A (p.Glu245=)
19g.45804379T>ACA406404829RSPH6Ac.1526A>T (p.Glu509Val)
c.734A>T (p.Glu245Val)
19g.45804379T>CCA406404830RSPH6Ac.1526A>G (p.Glu509Gly)
c.734A>G (p.Glu245Gly)
 gnomAD v4
19g.45804379T>GCA406404831RSPH6Ac.1526A>C (p.Glu509Ala)
c.734A>C (p.Glu245Ala)
19g.45804380C>ACA406404832RSPH6Ac.1525G>T (p.Glu509Ter)
c.733G>T (p.Glu245Ter)
19g.45804380C=CA2338615007RSPH6Ac.1525G= (p.Glu509=)
c.733G= (p.Glu245=)
19g.45804380C>GCA406404833RSPH6Ac.1525G>C (p.Glu509Gln)
c.733G>C (p.Glu245Gln)
19g.45804380C>TCA9522653RSPH6Ac.1525G>A (p.Glu509Lys)
c.733G>A (p.Glu245Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45804381G>ACA9522654RSPH6Ac.1524C>T (p.Asp508=)
c.732C>T (p.Asp244=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804381G>CCA406404835RSPH6Ac.1524C>G (p.Asp508Glu)
c.732C>G (p.Asp244Glu)
19g.45804381G=CA2338615008RSPH6Ac.1524C= (p.Asp508=)
c.732C= (p.Asp244=)
19g.45804381G>TCA406404834RSPH6Ac.1524C>A (p.Asp508Glu)
c.732C>A (p.Asp244Glu)
19g.45804382T>ACA406404836RSPH6Ac.1523A>T (p.Asp508Val)
c.731A>T (p.Asp244Val)
19g.45804382T>CCA406404838RSPH6Ac.1523A>G (p.Asp508Gly)
c.731A>G (p.Asp244Gly)
19g.45804382T>GCA406404837RSPH6Ac.1523A>C (p.Asp508Ala)
c.731A>C (p.Asp244Ala)
19g.45804383C>ACA406404839RSPH6Ac.1522G>T (p.Asp508Tyr)
c.730G>T (p.Asp244Tyr)
 gnomAD v4
19g.45804383C=CA2338615009RSPH6Ac.1522G= (p.Asp508=)
c.730G= (p.Asp244=)
19g.45804383C>GCA406404840RSPH6Ac.1522G>C (p.Asp508His)
c.730G>C (p.Asp244His)
19g.45804383C>TCA9522655RSPH6Ac.1522G>A (p.Asp508Asn)
c.730G>A (p.Asp244Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45804384G>ACA507965433RSPH6Ac.1521C>T (p.Gly507=)
c.729C>T (p.Gly243=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804384G>CCA507965434RSPH6Ac.1521C>G (p.Gly507=)
c.729C>G (p.Gly243=)
19g.45804384G=CA2338615010RSPH6Ac.1521C= (p.Gly507=)
c.729C= (p.Gly243=)
19g.45804384G>TCA507965435RSPH6Ac.1521C>A (p.Gly507=)
c.729C>A (p.Gly243=)
 gnomAD v4
19g.45804385C>ACA406404841RSPH6Ac.1520G>T (p.Gly507Val)
c.728G>T (p.Gly243Val)
19g.45804385C=CA2338615011RSPH6Ac.1520G= (p.Gly507=)
c.728G= (p.Gly243=)
19g.45804385C>GCA406404843RSPH6Ac.1520G>C (p.Gly507Ala)
c.728G>C (p.Gly243Ala)
19g.45804385C>TCA406404842RSPH6Ac.1520G>A (p.Gly507Asp)
c.728G>A (p.Gly243Asp)
 dbSNP
19g.45804385_45804388delinsCCCTCA2338615012RSPH6Ac.1517_1520delinsAGGG (p.Glu506=)
c.725_728delinsAGGG (p.Glu242=)
19g.45804386C>ACA406404844RSPH6Ac.1519G>T (p.Gly507Cys)
c.727G>T (p.Gly243Cys)
19g.45804386C=CA2338615013RSPH6Ac.1519G= (p.Gly507=)
c.727G= (p.Gly243=)
19g.45804386C>GCA406404845RSPH6Ac.1519G>C (p.Gly507Arg)
c.727G>C (p.Gly243Arg)
19g.45804386C>TCA9522656RSPH6Ac.1519G>A (p.Gly507Ser)
c.727G>A (p.Gly243Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804393_45804395delCA308997077RSPH6Ac.1517_1519del (p.Glu506del)
c.725_727del (p.Glu242del)
 dbSNP gnomAD v4
19g.45804387C>ACA406404846RSPH6Ac.1518G>T (p.Glu506Asp)
c.726G>T (p.Glu242Asp)
19g.45804387C>GCA406404847RSPH6Ac.1518G>C (p.Glu506Asp)
c.726G>C (p.Glu242Asp)
19g.45804387C>TCA507965438RSPH6Ac.1518G>A (p.Glu506=)
c.726G>A (p.Glu242=)
19g.45804388T>ACA406404848RSPH6Ac.1517A>T (p.Glu506Val)
c.725A>T (p.Glu242Val)
19g.45804388T>CCA406404849RSPH6Ac.1517A>G (p.Glu506Gly)
c.725A>G (p.Glu242Gly)
19g.45804388T>GCA406404850RSPH6Ac.1517A>C (p.Glu506Ala)
c.725A>C (p.Glu242Ala)
19g.45804389C>ACA406404851RSPH6Ac.1516G>T (p.Glu506Ter)
c.724G>T (p.Glu242Ter)
19g.45804389C>GCA406404852RSPH6Ac.1516G>C (p.Glu506Gln)
c.724G>C (p.Glu242Gln)
19g.45804389C>TCA406404853RSPH6Ac.1516G>A (p.Glu506Lys)
c.724G>A (p.Glu242Lys)
19g.45804390C>ACA406404855RSPH6Ac.1515G>T (p.Glu505Asp)
c.723G>T (p.Glu241Asp)
19g.45804390C>GCA406404854RSPH6Ac.1515G>C (p.Glu505Asp)
c.723G>C (p.Glu241Asp)
19g.45804390C>TCA507965443RSPH6Ac.1515G>A (p.Glu505=)
c.723G>A (p.Glu241=)
 gnomAD v4
19g.45804391T>ACA406404856RSPH6Ac.1514A>T (p.Glu505Val)
c.722A>T (p.Glu241Val)
 ClinVar dbSNP gnomAD v4
19g.45804391T>CCA406404857RSPH6Ac.1514A>G (p.Glu505Gly)
c.722A>G (p.Glu241Gly)
19g.45804391T>GCA406404858RSPH6Ac.1514A>C (p.Glu505Ala)
c.722A>C (p.Glu241Ala)
19g.45804391T=CA2338615014RSPH6Ac.1514A= (p.Glu505=)
c.722A= (p.Glu241=)
19g.45804392C>ACA406404859RSPH6Ac.1513G>T (p.Glu505Ter)
c.721G>T (p.Glu241Ter)
19g.45804392C=CA2338615015RSPH6Ac.1513G= (p.Glu505=)
c.721G= (p.Glu241=)
19g.45804392C>GCA406404860RSPH6Ac.1513G>C (p.Glu505Gln)
c.721G>C (p.Glu241Gln)
19g.45804392C>TCA308997080RSPH6Ac.1513G>A (p.Glu505Lys)
c.721G>A (p.Glu241Lys)
 dbSNP gnomAD v3 gnomAD v4
19g.45804393C>ACA406404861RSPH6Ac.1512G>T (p.Glu504Asp)
c.720G>T (p.Glu240Asp)
19g.45804393C>GCA406404862RSPH6Ac.1512G>C (p.Glu504Asp)
c.720G>C (p.Glu240Asp)
19g.45804393C>TCA507965448RSPH6Ac.1512G>A (p.Glu504=)
c.720G>A (p.Glu240=)
19g.45804394T>ACA406404863RSPH6Ac.1511A>T (p.Glu504Val)
c.719A>T (p.Glu240Val)
19g.45804394T>CCA406404864RSPH6Ac.1511A>G (p.Glu504Gly)
c.719A>G (p.Glu240Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.45804394T>GCA406404865RSPH6Ac.1511A>C (p.Glu504Ala)
c.719A>C (p.Glu240Ala)
19g.45804394T=CA2338615016RSPH6Ac.1511A= (p.Glu504=)
c.719A= (p.Glu240=)
19g.45804395C>ACA406404867RSPH6Ac.1510G>T (p.Glu504Ter)
c.718G>T (p.Glu240Ter)
19g.45804395C>GCA406404868RSPH6Ac.1510G>C (p.Glu504Gln)
c.718G>C (p.Glu240Gln)
19g.45804395C>TCA406404866RSPH6Ac.1510G>A (p.Glu504Lys)
c.718G>A (p.Glu240Lys)
19g.45804396A>CCA406404869RSPH6Ac.1509T>G (p.Ser503Arg)
c.717T>G (p.Ser239Arg)
19g.45804396A>GCA507965452RSPH6Ac.1509T>C (p.Ser503=)
c.717T>C (p.Ser239=)
19g.45804396A>TCA406404870RSPH6Ac.1509T>A (p.Ser503Arg)
c.717T>A (p.Ser239Arg)
19g.45804397C>ACA406404871RSPH6Ac.1508G>T (p.Ser503Ile)
c.716G>T (p.Ser239Ile)
19g.45804397C=CA2338615017RSPH6Ac.1508G= (p.Ser503=)
c.716G= (p.Ser239=)
19g.45804397C>GCA406404872RSPH6Ac.1508G>C (p.Ser503Thr)
c.716G>C (p.Ser239Thr)
19g.45804397C>TCA406404873RSPH6Ac.1508G>A (p.Ser503Asn)
c.716G>A (p.Ser239Asn)
 dbSNP
19g.45804398T>ACA406404876RSPH6Ac.1507A>T (p.Ser503Cys)
c.715A>T (p.Ser239Cys)
19g.45804398T>CCA406404874RSPH6Ac.1507A>G (p.Ser503Gly)
c.715A>G (p.Ser239Gly)
19g.45804398T>GCA406404875RSPH6Ac.1507A>C (p.Ser503Arg)
c.715A>C (p.Ser239Arg)
19g.45804398_45804401delCA2585869019RSPH6Ac.1504_1507del (p.Phe502ValfsTer?)
c.712_715del (p.Phe238ValfsTer?)
 gnomAD v4
19g.45804399A=CA2338615018RSPH6Ac.1506T= (p.Phe502=)
c.714T= (p.Phe238=)
19g.45804399A>CCA406404877RSPH6Ac.1506T>G (p.Phe502Leu)
c.714T>G (p.Phe238Leu)
 gnomAD v4
19g.45804399A>GCA507965455RSPH6Ac.1506T>C (p.Phe502=)
c.714T>C (p.Phe238=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804399A>TCA406404878RSPH6Ac.1506T>A (p.Phe502Leu)
c.714T>A (p.Phe238Leu)
19g.45804400A>CCA406404879RSPH6Ac.1505T>G (p.Phe502Cys)
c.713T>G (p.Phe238Cys)
19g.45804400A>GCA406404880RSPH6Ac.1505T>C (p.Phe502Ser)
c.713T>C (p.Phe238Ser)
19g.45804400A>TCA406404881RSPH6Ac.1505T>A (p.Phe502Tyr)
c.713T>A (p.Phe238Tyr)
19g.45804401A>CCA406404882RSPH6Ac.1504T>G (p.Phe502Val)
c.712T>G (p.Phe238Val)
19g.45804401A>GCA406404884RSPH6Ac.1504T>C (p.Phe502Leu)
c.712T>C (p.Phe238Leu)
19g.45804401A>TCA406404883RSPH6Ac.1504T>A (p.Phe502Ile)
c.712T>A (p.Phe238Ile)
 gnomAD v4
19g.45804402C>ACA406404885RSPH6Ac.1503G>T (p.Gln501His)
c.711G>T (p.Gln237His)
19g.45804402C=CA2338615019RSPH6Ac.1503G= (p.Gln501=)
c.711G= (p.Gln237=)
19g.45804402C>GCA406404886RSPH6Ac.1503G>C (p.Gln501His)
c.711G>C (p.Gln237His)
19g.45804402C>TCA9522657RSPH6Ac.1503G>A (p.Gln501=)
c.711G>A (p.Gln237=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804403T>ACA406404887RSPH6Ac.1502A>T (p.Gln501Leu)
c.710A>T (p.Gln237Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.45804403T>CCA406404888RSPH6Ac.1502A>G (p.Gln501Arg)
c.710A>G (p.Gln237Arg)
 gnomAD v4
19g.45804403T>GCA406404889RSPH6Ac.1502A>C (p.Gln501Pro)
c.710A>C (p.Gln237Pro)
19g.45804403_45804404delCA2585869020RSPH6Ac.1501_1502del (p.Gln501ValfsTer2)
c.709_710del (p.Gln237ValfsTer2)
 gnomAD v4
19g.45804404G>ACA406404890RSPH6Ac.1501C>T (p.Gln501Ter)
c.709C>T (p.Gln237Ter)
 gnomAD v4
19g.45804404G>CCA406404891RSPH6Ac.1501C>G (p.Gln501Glu)
c.709C>G (p.Gln237Glu)
19g.45804404G>TCA406404892RSPH6Ac.1501C>A (p.Gln501Lys)
c.709C>A (p.Gln237Lys)
19g.45804405G>ACA507965461RSPH6Ac.1500C>T (p.Tyr500=)
c.708C>T (p.Tyr236=)
19g.45804405G>CCA406404893RSPH6Ac.1500C>G (p.Tyr500Ter)
c.708C>G (p.Tyr236Ter)
 gnomAD v4
19g.45804405G>TCA406404894RSPH6Ac.1500C>A (p.Tyr500Ter)
c.708C>A (p.Tyr236Ter)
19g.45804406T>ACA406404897RSPH6Ac.1499A>T (p.Tyr500Phe)
c.707A>T (p.Tyr236Phe)
19g.45804406T>CCA406404896RSPH6Ac.1499A>G (p.Tyr500Cys)
c.707A>G (p.Tyr236Cys)
19g.45804406T>GCA406404895RSPH6Ac.1499A>C (p.Tyr500Ser)
c.707A>C (p.Tyr236Ser)
19g.45804407A>CCA406404898RSPH6Ac.1498T>G (p.Tyr500Asp)
c.706T>G (p.Tyr236Asp)
19g.45804407A>GCA406404900RSPH6Ac.1498T>C (p.Tyr500His)
c.706T>C (p.Tyr236His)
 gnomAD v4
19g.45804407A>TCA406404899RSPH6Ac.1498T>A (p.Tyr500Asn)
c.706T>A (p.Tyr236Asn)
19g.45804409_45804411delCA2585869021RSPH6Ac.1496_1498del (p.Phe499del)
c.704_706del (p.Phe235del)
 gnomAD v4
19g.45804408G>ACA507965464RSPH6Ac.1497C>T (p.Phe499=)
c.705C>T (p.Phe235=)
19g.45804408G>CCA406404901RSPH6Ac.1497C>G (p.Phe499Leu)
c.705C>G (p.Phe235Leu)
19g.45804408G>TCA406404902RSPH6Ac.1497C>A (p.Phe499Leu)
c.705C>A (p.Phe235Leu)
19g.45804409A=CA2338615020RSPH6Ac.1496T= (p.Phe499=)
c.704T= (p.Phe235=)
19g.45804409A>CCA9522658RSPH6Ac.1496T>G (p.Phe499Cys)
c.704T>G (p.Phe235Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804409A>GCA406404903RSPH6Ac.1496T>C (p.Phe499Ser)
c.704T>C (p.Phe235Ser)
19g.45804409A>TCA406404904RSPH6Ac.1496T>A (p.Phe499Tyr)
c.704T>A (p.Phe235Tyr)
19g.45804410A>CCA406404905RSPH6Ac.1495T>G (p.Phe499Val)
c.703T>G (p.Phe235Val)
19g.45804410A>GCA406404906RSPH6Ac.1495T>C (p.Phe499Leu)
c.703T>C (p.Phe235Leu)
19g.45804410A>TCA406404907RSPH6Ac.1495T>A (p.Phe499Ile)
c.703T>A (p.Phe235Ile)
19g.45804411G>ACA308997084RSPH6Ac.1494C>T (p.Gly498=)
c.702C>T (p.Gly234=)
 dbSNP gnomAD v4
19g.45804411G>CCA507965467RSPH6Ac.1494C>G (p.Gly498=)
c.702C>G (p.Gly234=)
 gnomAD v4
19g.45804411G=CA2338615021RSPH6Ac.1494C= (p.Gly498=)
c.702C= (p.Gly234=)
19g.45804411G>TCA507965468RSPH6Ac.1494C>A (p.Gly498=)
c.702C>A (p.Gly234=)
19g.45804412C>ACA406404908RSPH6Ac.1493G>T (p.Gly498Val)
c.701G>T (p.Gly234Val)
 dbSNP gnomAD v4
19g.45804412C=CA2338615022RSPH6Ac.1493G= (p.Gly498=)
c.701G= (p.Gly234=)
19g.45804412C>GCA406404909RSPH6Ac.1493G>C (p.Gly498Ala)
c.701G>C (p.Gly234Ala)
19g.45804412C>TCA406404910RSPH6Ac.1493G>A (p.Gly498Asp)
c.701G>A (p.Gly234Asp)
 dbSNP gnomAD v3 gnomAD v4
19g.45804413C>ACA406404913RSPH6Ac.1492G>T (p.Gly498Cys)
c.700G>T (p.Gly234Cys)
19g.45804413C>GCA406404912RSPH6Ac.1492G>C (p.Gly498Arg)
c.700G>C (p.Gly234Arg)
19g.45804413C>TCA406404911RSPH6Ac.1492G>A (p.Gly498Ser)
c.700G>A (p.Gly234Ser)
19g.45804414C>ACA507965473RSPH6Ac.1491G>T (p.Leu497=)
c.699G>T (p.Leu233=)
19g.45804414C>GCA507965474RSPH6Ac.1491G>C (p.Leu497=)
c.699G>C (p.Leu233=)
19g.45804414C>TCA507965472RSPH6Ac.1491G>A (p.Leu497=)
c.699G>A (p.Leu233=)
19g.45804415A>CCA406404914RSPH6Ac.1490T>G (p.Leu497Arg)
c.698T>G (p.Leu233Arg)
19g.45804415A>GCA406404915RSPH6Ac.1490T>C (p.Leu497Pro)
c.698T>C (p.Leu233Pro)
19g.45804415A>TCA406404916RSPH6Ac.1490T>A (p.Leu497Gln)
c.698T>A (p.Leu233Gln)
19g.45804416G>ACA507965476RSPH6Ac.1489C>T (p.Leu497=)
c.697C>T (p.Leu233=)
19g.45804416G>CCA406404917RSPH6Ac.1489C>G (p.Leu497Val)
c.697C>G (p.Leu233Val)
19g.45804416G>TCA406404918RSPH6Ac.1489C>A (p.Leu497Met)
c.697C>A (p.Leu233Met)
 gnomAD v4
19g.45804417C>ACA507965478RSPH6Ac.1488G>T (p.Pro496=)
c.696G>T (p.Pro232=)
19g.45804417C=CA2338615023RSPH6Ac.1488G= (p.Pro496=)
c.696G= (p.Pro232=)
19g.45804417C>GCA507965477RSPH6Ac.1488G>C (p.Pro496=)
c.696G>C (p.Pro232=)
19g.45804417C>TCA9522659RSPH6Ac.1488G>A (p.Pro496=)
c.696G>A (p.Pro232=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804418G>ACA9522660RSPH6Ac.1487C>T (p.Pro496Leu)
c.695C>T (p.Pro232Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804418G>CCA406404919RSPH6Ac.1487C>G (p.Pro496Arg)
c.695C>G (p.Pro232Arg)
19g.45804418G=CA2338615024RSPH6Ac.1487C= (p.Pro496=)
c.695C= (p.Pro232=)
19g.45804418G>TCA406404920RSPH6Ac.1487C>A (p.Pro496Gln)
c.695C>A (p.Pro232Gln)
19g.45804419G>ACA406404921RSPH6Ac.1486C>T (p.Pro496Ser)
c.694C>T (p.Pro232Ser)
19g.45804419G>CCA406404922RSPH6Ac.1486C>G (p.Pro496Ala)
c.694C>G (p.Pro232Ala)
19g.45804419G>TCA406404923RSPH6Ac.1486C>A (p.Pro496Thr)
c.694C>A (p.Pro232Thr)
19g.45804420G>ACA507965480RSPH6Ac.1485C>T (p.Ser495=)
c.693C>T (p.Ser231=)
19g.45804420G>CCA406404925RSPH6Ac.1485C>G (p.Ser495Arg)
c.693C>G (p.Ser231Arg)
19g.45804420G>TCA406404924RSPH6Ac.1485C>A (p.Ser495Arg)
c.693C>A (p.Ser231Arg)
19g.45804422_45804429delCA2585869022RSPH6Ac.1478_1485del (p.Gln493ProfsTer8)
c.686_693del (p.Gln229ProfsTer8)
 gnomAD v4
19g.45804421C>ACA406404926RSPH6Ac.1484G>T (p.Ser495Ile)
c.692G>T (p.Ser231Ile)
19g.45804421C=CA2338615025RSPH6Ac.1484G= (p.Ser495=)
c.692G= (p.Ser231=)
19g.45804421C>GCA406404927RSPH6Ac.1484G>C (p.Ser495Thr)
c.692G>C (p.Ser231Thr)
 gnomAD v4
19g.45804421C>TCA308997090RSPH6Ac.1484G>A (p.Ser495Asn)
c.692G>A (p.Ser231Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.45804422T>ACA406404928RSPH6Ac.1483A>T (p.Ser495Cys)
c.691A>T (p.Ser231Cys)
19g.45804422T>CCA406404929RSPH6Ac.1483A>G (p.Ser495Gly)
c.691A>G (p.Ser231Gly)
 gnomAD v4
19g.45804422T>GCA406404930RSPH6Ac.1483A>C (p.Ser495Arg)
c.691A>C (p.Ser231Arg)
19g.45804423G>ACA507965485RSPH6Ac.1482C>T (p.Val494=)
c.690C>T (p.Val230=)
19g.45804423G>CCA507965487RSPH6Ac.1482C>G (p.Val494=)
c.690C>G (p.Val230=)
19g.45804423G>TCA507965488RSPH6Ac.1482C>A (p.Val494=)
c.690C>A (p.Val230=)
 dbSNP
19g.45804424A=CA2338615026RSPH6Ac.1481T= (p.Val494=)
c.689T= (p.Val230=)
19g.45804424A>CCA406404931RSPH6Ac.1481T>G (p.Val494Gly)
c.689T>G (p.Val230Gly)
 dbSNP
19g.45804424A>GCA406404932RSPH6Ac.1481T>C (p.Val494Ala)
c.689T>C (p.Val230Ala)
19g.45804424A>TCA406404933RSPH6Ac.1481T>A (p.Val494Asp)
c.689T>A (p.Val230Asp)
19g.45804425C>ACA406404934RSPH6Ac.1480G>T (p.Val494Phe)
c.688G>T (p.Val230Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804425C=CA2338615028RSPH6Ac.1480G= (p.Val494=)
c.688G= (p.Val230=)
19g.45804425C>GCA406404935RSPH6Ac.1480G>C (p.Val494Leu)
c.688G>C (p.Val230Leu)
19g.45804425C>TCA406404936RSPH6Ac.1480G>A (p.Val494Ile)
c.688G>A (p.Val230Ile)
19g.45804425_45804433delinsCCTGCGTGGCA2338615027RSPH6Ac.1472_1480delinsCCACGCAGG (p.Ala491=)
c.680_688delinsCCACGCAGG (p.Ala227=)
19g.45804426C>ACA406404937RSPH6Ac.1479G>T (p.Gln493His)
c.687G>T (p.Gln229His)
19g.45804426C>GCA406404938RSPH6Ac.1479G>C (p.Gln493His)
c.687G>C (p.Gln229His)
19g.45804426C>TCA507965491RSPH6Ac.1479G>A (p.Gln493=)
c.687G>A (p.Gln229=)
19g.45804427_45804434delCA9522661RSPH6Ac.1472_1479del (p.Ala491GlyfsTer10)
c.680_687del (p.Ala227GlyfsTer10)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804427T>ACA406404939RSPH6Ac.1478A>T (p.Gln493Leu)
c.686A>T (p.Gln229Leu)
19g.45804427T>CCA406404940RSPH6Ac.1478A>G (p.Gln493Arg)
c.686A>G (p.Gln229Arg)
19g.45804427T>GCA406404941RSPH6Ac.1478A>C (p.Gln493Pro)
c.686A>C (p.Gln229Pro)
 gnomAD v4
19g.45804428G>ACA406404942RSPH6Ac.1477C>T (p.Gln493Ter)
c.685C>T (p.Gln229Ter)
19g.45804428G>CCA406404943RSPH6Ac.1477C>G (p.Gln493Glu)
c.685C>G (p.Gln229Glu)
 dbSNP
19g.45804428G=CA2338615029RSPH6Ac.1477C= (p.Gln493=)
c.685C= (p.Gln229=)
19g.45804428G>TCA406404944RSPH6Ac.1477C>A (p.Gln493Lys)
c.685C>A (p.Gln229Lys)
19g.45804429C>ACA507965497RSPH6Ac.1476G>T (p.Thr492=)
c.684G>T (p.Thr228=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804429C=CA2338615030RSPH6Ac.1476G= (p.Thr492=)
c.684G= (p.Thr228=)
19g.45804429C>GCA507965499RSPH6Ac.1476G>C (p.Thr492=)
c.684G>C (p.Thr228=)
19g.45804429C>TCA308997094RSPH6Ac.1476G>A (p.Thr492=)
c.684G>A (p.Thr228=)
 dbSNP gnomAD v4
19g.45804430G>ACA9522662RSPH6Ac.1475C>T (p.Thr492Met)
c.683C>T (p.Thr228Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804430G>CCA406404945RSPH6Ac.1475C>G (p.Thr492Arg)
c.683C>G (p.Thr228Arg)
19g.45804430G=CA2338615031RSPH6Ac.1475C= (p.Thr492=)
c.683C= (p.Thr228=)
19g.45804430G>TCA9522663RSPH6Ac.1475C>A (p.Thr492Lys)
c.683C>A (p.Thr228Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45804431T>ACA406404946RSPH6Ac.1474A>T (p.Thr492Ser)
c.682A>T (p.Thr228Ser)
19g.45804431T>CCA406404947RSPH6Ac.1474A>G (p.Thr492Ala)
c.682A>G (p.Thr228Ala)
 dbSNP gnomAD v2
19g.45804431T>GCA406404948RSPH6Ac.1474A>C (p.Thr492Pro)
c.682A>C (p.Thr228Pro)
19g.45804431T=CA2338615032RSPH6Ac.1474A= (p.Thr492=)
c.682A= (p.Thr228=)
19g.45804432G>ACA507965505RSPH6Ac.1473C>T (p.Ala491=)
c.681C>T (p.Ala227=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804432G>CCA507965507RSPH6Ac.1473C>G (p.Ala491=)
c.681C>G (p.Ala227=)
 dbSNP
19g.45804432G=CA2338615033RSPH6Ac.1473C= (p.Ala491=)
c.681C= (p.Ala227=)
19g.45804432G>TCA507965509RSPH6Ac.1473C>A (p.Ala491=)
c.681C>A (p.Ala227=)
19g.45804433G>ACA406404951RSPH6Ac.1472C>T (p.Ala491Val)
c.680C>T (p.Ala227Val)
 dbSNP
19g.45804433G>CCA406404950RSPH6Ac.1472C>G (p.Ala491Gly)
c.680C>G (p.Ala227Gly)
19g.45804433G=CA2338615034RSPH6Ac.1472C= (p.Ala491=)
c.680C= (p.Ala227=)
19g.45804433G>TCA406404949RSPH6Ac.1472C>A (p.Ala491Asp)
c.680C>A (p.Ala227Asp)
19g.45804434C>ACA406404952RSPH6Ac.1471G>T (p.Ala491Ser)
c.679G>T (p.Ala227Ser)
 gnomAD v4
19g.45804434C=CA2338615035RSPH6Ac.1471G= (p.Ala491=)
c.679G= (p.Ala227=)
19g.45804434C>GCA406404953RSPH6Ac.1471G>C (p.Ala491Pro)
c.679G>C (p.Ala227Pro)
19g.45804434C>TCA406404954RSPH6Ac.1471G>A (p.Ala491Thr)
c.679G>A (p.Ala227Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804435G>ACA9522664RSPH6Ac.1470C>T (p.Ala490=)
c.678C>T (p.Ala226=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804435G>CCA507965513RSPH6Ac.1470C>G (p.Ala490=)
c.678C>G (p.Ala226=)
19g.45804435G=CA2338615036RSPH6Ac.1470C= (p.Ala490=)
c.678C= (p.Ala226=)
19g.45804435G>TCA507965512RSPH6Ac.1470C>A (p.Ala490=)
c.678C>A (p.Ala226=)
19g.45804436G>ACA406404955RSPH6Ac.1469C>T (p.Ala490Val)
c.677C>T (p.Ala226Val)
 COSMIC
19g.45804436G>CCA406404956RSPH6Ac.1469C>G (p.Ala490Gly)
c.677C>G (p.Ala226Gly)
19g.45804436G>TCA406404957RSPH6Ac.1469C>A (p.Ala490Asp)
c.677C>A (p.Ala226Asp)
19g.45804437C>ACA406404958RSPH6Ac.1468G>T (p.Ala490Ser)
c.676G>T (p.Ala226Ser)
 dbSNP gnomAD v4 COSMIC
19g.45804437C=CA2338615037RSPH6Ac.1468G= (p.Ala490=)
c.676G= (p.Ala226=)
19g.45804437C>GCA406404960RSPH6Ac.1468G>C (p.Ala490Pro)
c.676G>C (p.Ala226Pro)
19g.45804437C>TCA406404959RSPH6Ac.1468G>A (p.Ala490Thr)
c.676G>A (p.Ala226Thr)
 COSMIC
19g.45804438C>ACA507965520RSPH6Ac.1467G>T (p.Ser489=)
c.675G>T (p.Ser225=)
 gnomAD v4
19g.45804438C=CA2338615038RSPH6Ac.1467G= (p.Ser489=)
c.675G= (p.Ser225=)
19g.45804438C>GCA507965523RSPH6Ac.1467G>C (p.Ser489=)
c.675G>C (p.Ser225=)
19g.45804438C>TCA9522665RSPH6Ac.1467G>A (p.Ser489=)
c.675G>A (p.Ser225=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804439G>ACA406404961RSPH6Ac.1466C>T (p.Ser489Leu)
c.674C>T (p.Ser225Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804439G>CCA406404962RSPH6Ac.1466C>G (p.Ser489Trp)
c.674C>G (p.Ser225Trp)
 COSMIC
19g.45804439G=CA2338615039RSPH6Ac.1466C= (p.Ser489=)
c.674C= (p.Ser225=)
19g.45804439G>TCA406404963RSPH6Ac.1466C>A (p.Ser489Ter)
c.674C>A (p.Ser225Ter)
19g.45804440A>CCA406404966RSPH6Ac.1465T>G (p.Ser489Ala)
c.673T>G (p.Ser225Ala)
19g.45804440A>GCA406404964RSPH6Ac.1465T>C (p.Ser489Pro)
c.673T>C (p.Ser225Pro)
19g.45804440A>TCA406404965RSPH6Ac.1465T>A (p.Ser489Thr)
c.673T>A (p.Ser225Thr)
19g.45804440_45804441insCTTCTAGTCTAGAGTCAAGAGAGCTAAAAGAGGCCGGGTGCAGTCA2585869023RSPH6Ac.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG (p.Ser489ThrfsTer7)
c.672_673insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG (p.Ser225ThrfsTer7)
 gnomAD v4
19g.45804441G>ACA507965528RSPH6Ac.1464C>T (p.Ile488=)
c.672C>T (p.Ile224=)
 dbSNP
19g.45804441G>CCA406404967RSPH6Ac.1464C>G (p.Ile488Met)
c.672C>G (p.Ile224Met)
19g.45804441G=CA2338615040RSPH6Ac.1464C= (p.Ile488=)
c.672C= (p.Ile224=)
19g.45804441G>TCA507965529RSPH6Ac.1464C>A (p.Ile488=)
c.672C>A (p.Ile224=)
19g.45804442A>CCA406404968RSPH6Ac.1463T>G (p.Ile488Ser)
c.671T>G (p.Ile224Ser)
19g.45804442A>GCA406404969RSPH6Ac.1463T>C (p.Ile488Thr)
c.671T>C (p.Ile224Thr)
 gnomAD v4
19g.45804442A>TCA406404970RSPH6Ac.1463T>A (p.Ile488Asn)
c.671T>A (p.Ile224Asn)
19g.45804443T>ACA406404971RSPH6Ac.1462A>T (p.Ile488Phe)
c.670A>T (p.Ile224Phe)
19g.45804443T>CCA406404972RSPH6Ac.1462A>G (p.Ile488Val)
c.670A>G (p.Ile224Val)
 dbSNP gnomAD v2 gnomAD v4
19g.45804443T>GCA406404973RSPH6Ac.1462A>C (p.Ile488Leu)
c.670A>C (p.Ile224Leu)
19g.45804443T=CA2338615041RSPH6Ac.1462A= (p.Ile488=)
c.670A= (p.Ile224=)
19g.45804444G>ACA507965530RSPH6Ac.1461C>T (p.Arg487=)
c.669C>T (p.Arg223=)
19g.45804444G>CCA507965531RSPH6Ac.1461C>G (p.Arg487=)
c.669C>G (p.Arg223=)
19g.45804444G>TCA507965532RSPH6Ac.1461C>A (p.Arg487=)
c.669C>A (p.Arg223=)
19g.45804445C>ACA406404974RSPH6Ac.1460G>T (p.Arg487Leu)
c.668G>T (p.Arg223Leu)
 dbSNP
19g.45804445C=CA2338615042RSPH6Ac.1460G= (p.Arg487=)
c.668G= (p.Arg223=)
19g.45804445C>GCA406404975RSPH6Ac.1460G>C (p.Arg487Pro)
c.668G>C (p.Arg223Pro)
19g.45804445C>TCA9522666RSPH6Ac.1460G>A (p.Arg487His)
c.668G>A (p.Arg223His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804446G>ACA9522667RSPH6Ac.1459C>T (p.Arg487Cys)
c.667C>T (p.Arg223Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804446G>CCA406404976RSPH6Ac.1459C>G (p.Arg487Gly)
c.667C>G (p.Arg223Gly)
 gnomAD v4
19g.45804446G=CA2338615043RSPH6Ac.1459C= (p.Arg487=)
c.667C= (p.Arg223=)
19g.45804446G>TCA406404977RSPH6Ac.1459C>A (p.Arg487Ser)
c.667C>A (p.Arg223Ser)
19g.45804447G>ACA507965535RSPH6Ac.1458C>T (p.Ala486=)
c.666C>T (p.Ala222=)
 dbSNP gnomAD v3 gnomAD v4
19g.45804447G>CCA507965536RSPH6Ac.1458C>G (p.Ala486=)
c.666C>G (p.Ala222=)
19g.45804447G=CA2338615044RSPH6Ac.1458C= (p.Ala486=)
c.666C= (p.Ala222=)
19g.45804447G>TCA507965537RSPH6Ac.1458C>A (p.Ala486=)
c.666C>A (p.Ala222=)
19g.45804448G>ACA308997103RSPH6Ac.1457C>T (p.Ala486Val)
c.665C>T (p.Ala222Val)
 dbSNP gnomAD v4
19g.45804448G>CCA9522668RSPH6Ac.1457C>G (p.Ala486Gly)
c.665C>G (p.Ala222Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804448G=CA2338615045RSPH6Ac.1457C= (p.Ala486=)
c.665C= (p.Ala222=)
19g.45804448G>TCA406404978RSPH6Ac.1457C>A (p.Ala486Asp)
c.665C>A (p.Ala222Asp)
19g.45804449C>ACA406404979RSPH6Ac.1456G>T (p.Ala486Ser)
c.664G>T (p.Ala222Ser)
19g.45804449C>GCA406404980RSPH6Ac.1456G>C (p.Ala486Pro)
c.664G>C (p.Ala222Pro)
 gnomAD v4
19g.45804449C>TCA406404981RSPH6Ac.1456G>A (p.Ala486Thr)
c.664G>A (p.Ala222Thr)
19g.45804450T>ACA507965538RSPH6Ac.1455A>T (p.Ile485=)
c.663A>T (p.Ile221=)
19g.45804450T>CCA9522669RSPH6Ac.1455A>G (p.Ile485Met)
c.663A>G (p.Ile221Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804450T>GCA507965539RSPH6Ac.1455A>C (p.Ile485=)
c.663A>C (p.Ile221=)
19g.45804450T=CA2338615046RSPH6Ac.1455A= (p.Ile485=)
c.663A= (p.Ile221=)
19g.45804451A>CCA406404982RSPH6Ac.1454T>G (p.Ile485Arg)
c.662T>G (p.Ile221Arg)
 gnomAD v4
19g.45804451A>GCA406404983RSPH6Ac.1454T>C (p.Ile485Thr)
c.662T>C (p.Ile221Thr)
19g.45804451A>TCA406404984RSPH6Ac.1454T>A (p.Ile485Lys)
c.662T>A (p.Ile221Lys)
19g.45804452T>ACA406404986RSPH6Ac.1453A>T (p.Ile485Leu)
c.661A>T (p.Ile221Leu)
19g.45804452T>CCA9522670RSPH6Ac.1453A>G (p.Ile485Val)
c.661A>G (p.Ile221Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804452T>GCA406404985RSPH6Ac.1453A>C (p.Ile485Leu)
c.661A>C (p.Ile221Leu)
19g.45804452T=CA2338615047RSPH6Ac.1453A= (p.Ile485=)
c.661A= (p.Ile221=)
19g.45804453C>ACA406404987RSPH6Ac.1452G>T (p.Gln484His)
c.660G>T (p.Gln220His)
19g.45804453C>GCA406404988RSPH6Ac.1452G>C (p.Gln484His)
c.660G>C (p.Gln220His)
 gnomAD v4 COSMIC
19g.45804453C>TCA507965540RSPH6Ac.1452G>A (p.Gln484=)
c.660G>A (p.Gln220=)
19g.45804454T>ACA406404989RSPH6Ac.1451A>T (p.Gln484Leu)
c.659A>T (p.Gln220Leu)
19g.45804454T>CCA406404990RSPH6Ac.1451A>G (p.Gln484Arg)
c.659A>G (p.Gln220Arg)
19g.45804454T>GCA406404991RSPH6Ac.1451A>C (p.Gln484Pro)
c.659A>C (p.Gln220Pro)
19g.45804455G>ACA406404992RSPH6Ac.1450C>T (p.Gln484Ter)
c.658C>T (p.Gln220Ter)
19g.45804455G>CCA406404994RSPH6Ac.1450C>G (p.Gln484Glu)
c.658C>G (p.Gln220Glu)
19g.45804455G>TCA406404993RSPH6Ac.1450C>A (p.Gln484Lys)
c.658C>A (p.Gln220Lys)
19g.45804456G>ACA507965544RSPH6Ac.1449C>T (p.Ala483=)
c.657C>T (p.Ala219=)
19g.45804456G>CCA507965545RSPH6Ac.1449C>G (p.Ala483=)
c.657C>G (p.Ala219=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804456G=CA2338615048RSPH6Ac.1449C= (p.Ala483=)
c.657C= (p.Ala219=)
19g.45804456G>TCA507965546RSPH6Ac.1449C>A (p.Ala483=)
c.657C>A (p.Ala219=)
19g.45804457G>ACA406404995RSPH6Ac.1448C>T (p.Ala483Val)
c.656C>T (p.Ala219Val)
 COSMIC
19g.45804457G>CCA406404996RSPH6Ac.1448C>G (p.Ala483Gly)
c.656C>G (p.Ala219Gly)
19g.45804457G>TCA406404997RSPH6Ac.1448C>A (p.Ala483Asp)
c.656C>A (p.Ala219Asp)
19g.45804457_45804459delinsGCCCA2338615049RSPH6Ac.1446_1448delinsGGC (p.Arg482=)
c.654_656delinsGGC (p.Arg218=)
19g.45804458C>ACA406404998RSPH6Ac.1447G>T (p.Ala483Ser)
c.655G>T (p.Ala219Ser)
19g.45804458C>GCA406404999RSPH6Ac.1447G>C (p.Ala483Pro)
c.655G>C (p.Ala219Pro)
19g.45804458C>TCA406405000RSPH6Ac.1447G>A (p.Ala483Thr)
c.655G>A (p.Ala219Thr)
 gnomAD v4 COSMIC
19g.45804459_45804460delCA308997111RSPH6Ac.1446_1447del (p.Ala483ProfsTer20)
c.654_655del (p.Ala219ProfsTer20)
 dbSNP gnomAD v3 gnomAD v4
19g.45804459C>ACA507965552RSPH6Ac.1446G>T (p.Arg482=)
c.654G>T (p.Arg218=)
19g.45804459C>GCA507965551RSPH6Ac.1446G>C (p.Arg482=)
c.654G>C (p.Arg218=)
19g.45804459C>TCA507965550RSPH6Ac.1446G>A (p.Arg482=)
c.654G>A (p.Arg218=)
 gnomAD v4
19g.45804460C>ACA406405001RSPH6Ac.1445G>T (p.Arg482Leu)
c.653G>T (p.Arg218Leu)
 COSMIC
19g.45804460C=CA2338615050RSPH6Ac.1445G= (p.Arg482=)
c.653G= (p.Arg218=)
19g.45804460C>GCA308997113RSPH6Ac.1445G>C (p.Arg482Pro)
c.653G>C (p.Arg218Pro)
 dbSNP COSMIC
19g.45804460C>TCA406405002RSPH6Ac.1445G>A (p.Arg482Gln)
c.653G>A (p.Arg218Gln)
 dbSNP gnomAD v4
19g.45804461G>ACA9522671RSPH6Ac.1444C>T (p.Arg482Trp)
c.652C>T (p.Arg218Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804461G>CCA406405003RSPH6Ac.1444C>G (p.Arg482Gly)
c.652C>G (p.Arg218Gly)
19g.45804461G=CA2338615051RSPH6Ac.1444C= (p.Arg482=)
c.652C= (p.Arg218=)
19g.45804461G>TCA507965556RSPH6Ac.1444C>A (p.Arg482=)
c.652C>A (p.Arg218=)
19g.45804462C>ACA507965559RSPH6Ac.1443G>T (p.Leu481=)
c.651G>T (p.Leu217=)
19g.45804462C>GCA507965558RSPH6Ac.1443G>C (p.Leu481=)
c.651G>C (p.Leu217=)
19g.45804462C>TCA507965557RSPH6Ac.1443G>A (p.Leu481=)
c.651G>A (p.Leu217=)
19g.45804463A>CCA406405004RSPH6Ac.1442T>G (p.Leu481Arg)
c.650T>G (p.Leu217Arg)
19g.45804463A>GCA406405006RSPH6Ac.1442T>C (p.Leu481Pro)
c.650T>C (p.Leu217Pro)
19g.45804463A>TCA406405005RSPH6Ac.1442T>A (p.Leu481Gln)
c.650T>A (p.Leu217Gln)
 COSMIC
19g.45804465_45804468dupCA2585869024RSPH6Ac.1439_1442dup (p.Arg482ProfsTer23)
c.647_650dup (p.Arg218ProfsTer23)
 gnomAD v4
19g.45804464G>ACA9522672RSPH6Ac.1441C>T (p.Leu481=)
c.649C>T (p.Leu217=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804464G>CCA406405008RSPH6Ac.1441C>G (p.Leu481Val)
c.649C>G (p.Leu217Val)
19g.45804464G=CA2338615052RSPH6Ac.1441C= (p.Leu481=)
c.649C= (p.Leu217=)
19g.45804464G>TCA406405007RSPH6Ac.1441C>A (p.Leu481Met)
c.649C>A (p.Leu217Met)
 gnomAD v4
19g.45804465G>ACA9522673RSPH6Ac.1440C>T (p.Tyr480=)
c.648C>T (p.Tyr216=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804465G>CCA406405009RSPH6Ac.1440C>G (p.Tyr480Ter)
c.648C>G (p.Tyr216Ter)
19g.45804465G=CA2338615053RSPH6Ac.1440C= (p.Tyr480=)
c.648C= (p.Tyr216=)
19g.45804465G>TCA406405010RSPH6Ac.1440C>A (p.Tyr480Ter)
c.648C>A (p.Tyr216Ter)
 dbSNP
19g.45804466T>ACA406405011RSPH6Ac.1439A>T (p.Tyr480Phe)
c.647A>T (p.Tyr216Phe)
19g.45804466T>CCA406405012RSPH6Ac.1439A>G (p.Tyr480Cys)
c.647A>G (p.Tyr216Cys)
19g.45804466T>GCA406405013RSPH6Ac.1439A>C (p.Tyr480Ser)
c.647A>C (p.Tyr216Ser)
 dbSNP
19g.45804466T=CA2338615054RSPH6Ac.1439A= (p.Tyr480=)
c.647A= (p.Tyr216=)

Number of alleles fetched