Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.223959821T>ACA350806752MRPL44c.467T>A (p.Leu156His)
c.425T>A (p.Leu142His)
2g.223959821T>CCA2139052MRPL44c.467T>C (p.Leu156Pro)
c.425T>C (p.Leu142Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959821T>GCA144708MRPL44c.467T>G (p.Leu156Arg)
c.425T>G (p.Leu142Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959821T=CA1331308707MRPL44c.467T= (p.Leu156=)
c.425T= (p.Leu142=)
2g.223959822T>ACA431660154MRPL44c.468T>A (p.Leu156=)
c.426T>A (p.Leu142=)
2g.223959822T>CCA431660155MRPL44c.468T>C (p.Leu156=)
c.426T>C (p.Leu142=)
2g.223959822T>GCA431660156MRPL44c.468T>G (p.Leu156=)
c.426T>G (p.Leu142=)
 dbSNP gnomAD v2 gnomAD v4
2g.223959822T=CA1331308708MRPL44c.468T= (p.Leu156=)
c.426T= (p.Leu142=)
2g.223959823G>ACA350806755MRPL44c.469G>A (p.Val157Ile)
c.427G>A (p.Val143Ile)
2g.223959823G>CCA350806758MRPL44c.469G>C (p.Val157Leu)
c.427G>C (p.Val143Leu)
2g.223959823G>TCA350806761MRPL44c.469G>T (p.Val157Phe)
c.427G>T (p.Val143Phe)
2g.223959824T>ACA350806764MRPL44c.470T>A (p.Val157Asp)
c.428T>A (p.Val143Asp)
2g.223959824T>CCA350806766MRPL44c.470T>C (p.Val157Ala)
c.428T>C (p.Val143Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.223959824T>GCA350806768MRPL44c.470T>G (p.Val157Gly)
c.428T>G (p.Val143Gly)
2g.223959824T=CA1331308709MRPL44c.470T= (p.Val157=)
c.428T= (p.Val143=)
2g.223959825T>ACA431660157MRPL44c.471T>A (p.Val157=)
c.429T>A (p.Val143=)
2g.223959825T>CCA431660158MRPL44c.471T>C (p.Val157=)
c.429T>C (p.Val143=)
2g.223959825T>GCA431660159MRPL44c.471T>G (p.Val157=)
c.429T>G (p.Val143=)
2g.223959825_223959826delinsTGCA1331308710MRPL44c.471_472delinsTG (p.Val157=)
c.429_430delinsTG (p.Val143=)
2g.223959826delCA540298700MRPL44c.472del (p.Asp158ThrfsTer21)
c.430del (p.Asp144ThrfsTer21)
 dbSNP gnomAD v2 gnomAD v4
2g.223959826G>ACA2139053MRPL44c.472G>A (p.Asp158Asn)
c.430G>A (p.Asp144Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959826G>CCA350806770MRPL44c.472G>C (p.Asp158His)
c.430G>C (p.Asp144His)
2g.223959826G=CA1331308711MRPL44c.472G= (p.Asp158=)
c.430G= (p.Asp144=)
2g.223959826G>TCA350806773MRPL44c.472G>T (p.Asp158Tyr)
c.430G>T (p.Asp144Tyr)
2g.223959827A>CCA350806776MRPL44c.473A>C (p.Asp158Ala)
c.431A>C (p.Asp144Ala)
2g.223959827A>GCA350806777MRPL44c.473A>G (p.Asp158Gly)
c.431A>G (p.Asp144Gly)
2g.223959827A>TCA350806782MRPL44c.473A>T (p.Asp158Val)
c.431A>T (p.Asp144Val)
2g.223959827_223959831dupCA2701727542MRPL44c.473_477dup (p.Leu160ThrfsTer21)
c.431_435dup (p.Leu146ThrfsTer21)
 dbSNP
2g.223959828C>ACA350806784MRPL44c.474C>A (p.Asp158Glu)
c.432C>A (p.Asp144Glu)
2g.223959828C>GCA350806786MRPL44c.474C>G (p.Asp158Glu)
c.432C>G (p.Asp144Glu)
2g.223959828C>TCA431660160MRPL44c.474C>T (p.Asp158=)
c.432C>T (p.Asp144=)
2g.223959829T>ACA350806789MRPL44c.475T>A (p.Phe159Ile)
c.433T>A (p.Phe145Ile)
 gnomAD v4
2g.223959829T>CCA350806792MRPL44c.475T>C (p.Phe159Leu)
c.433T>C (p.Phe145Leu)
2g.223959829T>GCA350806795MRPL44c.475T>G (p.Phe159Val)
c.433T>G (p.Phe145Val)
2g.223959830T>ACA350806798MRPL44c.476T>A (p.Phe159Tyr)
c.434T>A (p.Phe145Tyr)
2g.223959830T>CCA350806801MRPL44c.476T>C (p.Phe159Ser)
c.434T>C (p.Phe145Ser)
2g.223959830T>GCA350806803MRPL44c.476T>G (p.Phe159Cys)
c.434T>G (p.Phe145Cys)
2g.223959831T>ACA350806806MRPL44c.477T>A (p.Phe159Leu)
c.435T>A (p.Phe145Leu)
2g.223959831T>CCA431660161MRPL44c.477T>C (p.Phe159=)
c.435T>C (p.Phe145=)
2g.223959831T>GCA350806807MRPL44c.477T>G (p.Phe159Leu)
c.435T>G (p.Phe145Leu)
2g.223959832C>ACA350806808MRPL44c.478C>A (p.Leu160Ile)
c.436C>A (p.Leu146Ile)
2g.223959832C>GCA350806809MRPL44c.478C>G (p.Leu160Val)
c.436C>G (p.Leu146Val)
2g.223959832C>TCA350806810MRPL44c.478C>T (p.Leu160Phe)
c.436C>T (p.Leu146Phe)
2g.223959833T>ACA350806817MRPL44c.479T>A (p.Leu160His)
c.437T>A (p.Leu146His)
2g.223959833T>CCA350806814MRPL44c.479T>C (p.Leu160Pro)
c.437T>C (p.Leu146Pro)
2g.223959833T>GCA350806811MRPL44c.479T>G (p.Leu160Arg)
c.437T>G (p.Leu146Arg)
2g.223959834C>ACA431660164MRPL44c.480C>A (p.Leu160=)
c.438C>A (p.Leu146=)
2g.223959834C=CA1331308712MRPL44c.480C= (p.Leu160=)
c.438C= (p.Leu146=)
2g.223959834C>GCA431660163MRPL44c.480C>G (p.Leu160=)
c.438C>G (p.Leu146=)
2g.223959834C>TCA431660162MRPL44c.480C>T (p.Leu160=)
c.438C>T (p.Leu146=)
 dbSNP gnomAD v2 gnomAD v4
2g.223959835A>CCA350806820MRPL44c.481A>C (p.Thr161Pro)
c.439A>C (p.Thr147Pro)
 gnomAD v4
2g.223959835A>GCA350806823MRPL44c.481A>G (p.Thr161Ala)
c.439A>G (p.Thr147Ala)
 gnomAD v4
2g.223959835A>TCA350806825MRPL44c.481A>T (p.Thr161Ser)
c.439A>T (p.Thr147Ser)
2g.223959835_223959838delinsTCCA2573051873MRPL44c.481_484delinsTC (p.Thr161SerfsTer2)
c.439_442delinsTC (p.Thr147SerfsTer2)
 ClinVar dbSNP
2g.223959836C>ACA350806826MRPL44c.482C>A (p.Thr161Asn)
c.440C>A (p.Thr147Asn)
2g.223959836C=CA1331308713MRPL44c.482C= (p.Thr161=)
c.440C= (p.Thr147=)
2g.223959836C>GCA350806827MRPL44c.482C>G (p.Thr161Ser)
c.440C>G (p.Thr147Ser)
2g.223959836C>TCA350806828MRPL44c.482C>T (p.Thr161Ile)
c.440C>T (p.Thr147Ile)
 dbSNP
2g.223959837T>ACA431660165MRPL44c.483T>A (p.Thr161=)
c.441T>A (p.Thr147=)
2g.223959837T>CCA431660166MRPL44c.483T>C (p.Thr161=)
c.441T>C (p.Thr147=)
2g.223959837T>GCA431660167MRPL44c.483T>G (p.Thr161=)
c.441T>G (p.Thr147=)
2g.223959838G>ACA350806829MRPL44c.484G>A (p.Gly162Ser)
c.442G>A (p.Gly148Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.223959838G>CCA350806830MRPL44c.484G>C (p.Gly162Arg)
c.442G>C (p.Gly148Arg)
 gnomAD v4
2g.223959838G=CA1331308714MRPL44c.484G= (p.Gly162=)
c.442G= (p.Gly148=)
2g.223959838G>TCA350806832MRPL44c.484G>T (p.Gly162Cys)
c.442G>T (p.Gly148Cys)
2g.223959839_223959844delCA2663356214MRPL44c.485_490del (p.Gly162_Glu163del)
c.443_448del (p.Gly148_Glu149del)
 gnomAD v4
2g.223959838_223959849delinsGGTGAGGAAGTCCA1331308715MRPL44c.484_495delinsGGTGAGGAAGTC (p.Gly162=)
c.442_453delinsGGTGAGGAAGTC (p.Gly148=)
2g.223959839G>ACA350806834MRPL44c.485G>A (p.Gly162Asp)
c.443G>A (p.Gly148Asp)
 gnomAD v4
2g.223959839G>CCA350806836MRPL44c.485G>C (p.Gly162Ala)
c.443G>C (p.Gly148Ala)
2g.223959839G=CA1331308716MRPL44c.485G= (p.Gly162=)
c.443G= (p.Gly148=)
2g.223959839G>TCA350806839MRPL44c.485G>T (p.Gly162Val)
c.443G>T (p.Gly148Val)
 dbSNP gnomAD v4
2g.223959842_223959852delCA2139054MRPL44c.488_498del (p.Glu163ValfsTer5)
c.446_456del (p.Glu149ValfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.223959840T>ACA431660168MRPL44c.486T>A (p.Gly162=)
c.444T>A (p.Gly148=)
2g.223959840T>CCA431660170MRPL44c.486T>C (p.Gly162=)
c.444T>C (p.Gly148=)
2g.223959840T>GCA431660169MRPL44c.486T>G (p.Gly162=)
c.444T>G (p.Gly148=)
2g.223959841G>ACA350806848MRPL44c.487G>A (p.Glu163Lys)
c.445G>A (p.Glu149Lys)
 gnomAD v4
2g.223959841G>CCA350806851MRPL44c.487G>C (p.Glu163Gln)
c.445G>C (p.Glu149Gln)
2g.223959841G>TCA350806845MRPL44c.487G>T (p.Glu163Ter)
c.445G>T (p.Glu149Ter)
2g.223959842A>CCA350806858MRPL44c.488A>C (p.Glu163Ala)
c.446A>C (p.Glu149Ala)
2g.223959842A>GCA350806855MRPL44c.488A>G (p.Glu163Gly)
c.446A>G (p.Glu149Gly)
2g.223959842A>TCA350806857MRPL44c.488A>T (p.Glu163Val)
c.446A>T (p.Glu149Val)
2g.223959843G>ACA431660171MRPL44c.489G>A (p.Glu163=)
c.447G>A (p.Glu149=)
2g.223959843G>CCA350806861MRPL44c.489G>C (p.Glu163Asp)
c.447G>C (p.Glu149Asp)
2g.223959843G>TCA350806864MRPL44c.489G>T (p.Glu163Asp)
c.447G>T (p.Glu149Asp)
2g.223959844G>ACA350806866MRPL44c.490G>A (p.Glu164Lys)
c.448G>A (p.Glu150Lys)
 gnomAD v4
2g.223959844G>CCA350806868MRPL44c.490G>C (p.Glu164Gln)
c.448G>C (p.Glu150Gln)
2g.223959844G>TCA350806872MRPL44c.490G>T (p.Glu164Ter)
c.448G>T (p.Glu150Ter)
2g.223959845A=CA1331308717MRPL44c.491A= (p.Glu164=)
c.449A= (p.Glu150=)
2g.223959845A>CCA350806878MRPL44c.491A>C (p.Glu164Ala)
c.449A>C (p.Glu150Ala)
2g.223959845A>GCA350806880MRPL44c.491A>G (p.Glu164Gly)
c.449A>G (p.Glu150Gly)
2g.223959845A>TCA350806882MRPL44c.491A>T (p.Glu164Val)
c.449A>T (p.Glu150Val)
2g.223959845_223959846insCACACTCA540298701MRPL44c.491_492insCACACT (p.Glu164delinsAspThrLeu)
c.449_450insCACACT (p.Glu150delinsAspThrLeu)
 dbSNP gnomAD v2 gnomAD v4
2g.223959846A>CCA350806885MRPL44c.492A>C (p.Glu164Asp)
c.450A>C (p.Glu150Asp)
2g.223959846A>GCA431660172MRPL44c.492A>G (p.Glu164=)
c.450A>G (p.Glu150=)
2g.223959846A>TCA350806889MRPL44c.492A>T (p.Glu164Asp)
c.450A>T (p.Glu150Asp)
2g.223959847G>ACA350806895MRPL44c.493G>A (p.Val165Ile)
c.451G>A (p.Val151Ile)
2g.223959847G>CCA350806891MRPL44c.493G>C (p.Val165Leu)
c.451G>C (p.Val151Leu)
2g.223959847G>TCA350806893MRPL44c.493G>T (p.Val165Phe)
c.451G>T (p.Val151Phe)
2g.223959848T>ACA350806898MRPL44c.494T>A (p.Val165Asp)
c.452T>A (p.Val151Asp)
2g.223959848T>CCA350806904MRPL44c.494T>C (p.Val165Ala)
c.452T>C (p.Val151Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.223959848T>GCA350806907MRPL44c.494T>G (p.Val165Gly)
c.452T>G (p.Val151Gly)
2g.223959848T=CA1331308718MRPL44c.494T= (p.Val165=)
c.452T= (p.Val151=)
2g.223959849C>ACA431660175MRPL44c.495C>A (p.Val165=)
c.453C>A (p.Val151=)
2g.223959849C=CA1331308719MRPL44c.495C= (p.Val165=)
c.453C= (p.Val151=)
2g.223959849C>GCA431660174MRPL44c.495C>G (p.Val165=)
c.453C>G (p.Val151=)
2g.223959849C>TCA431660173MRPL44c.495C>T (p.Val165=)
c.453C>T (p.Val151=)
 dbSNP gnomAD v2 gnomAD v4
2g.223959850G>ACA2139055MRPL44c.496G>A (p.Val166Met)
c.454G>A (p.Val152Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959850G>CCA350806909MRPL44c.496G>C (p.Val166Leu)
c.454G>C (p.Val152Leu)
2g.223959850G=CA1331308720MRPL44c.496G= (p.Val166=)
c.454G= (p.Val152=)
2g.223959850G>TCA2139056MRPL44c.496G>T (p.Val166Leu)
c.454G>T (p.Val152Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223959851T>ACA350806910MRPL44c.497T>A (p.Val166Glu)
c.455T>A (p.Val152Glu)
2g.223959851T>CCA350806912MRPL44c.497T>C (p.Val166Ala)
c.455T>C (p.Val152Ala)
2g.223959851T>GCA350806914MRPL44c.497T>G (p.Val166Gly)
c.455T>G (p.Val152Gly)
2g.223959852G>ACA431660176MRPL44c.498G>A (p.Val166=)
c.456G>A (p.Val152=)
2g.223959852G>CCA431660177MRPL44c.498G>C (p.Val166=)
c.456G>C (p.Val152=)
 gnomAD v4
2g.223959852G>TCA431660178MRPL44c.498G>T (p.Val166=)
c.456G>T (p.Val152=)
2g.223959853T>ACA350806915MRPL44c.499T>A (p.Cys167Ser)
c.457T>A (p.Cys153Ser)
2g.223959853T>CCA350806918MRPL44c.499T>C (p.Cys167Arg)
c.457T>C (p.Cys153Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.223959853T>GCA350806921MRPL44c.499T>G (p.Cys167Gly)
c.457T>G (p.Cys153Gly)
 gnomAD v4
2g.223959853T=CA1331308721MRPL44c.499T= (p.Cys167=)
c.457T= (p.Cys153=)
2g.223959854G>ACA350806926MRPL44c.500G>A (p.Cys167Tyr)
c.458G>A (p.Cys153Tyr)
2g.223959854G>CCA350806934MRPL44c.500G>C (p.Cys167Ser)
c.458G>C (p.Cys153Ser)
2g.223959854G>TCA350806923MRPL44c.500G>T (p.Cys167Phe)
c.458G>T (p.Cys153Phe)
2g.223959855T>ACA350806937MRPL44c.501T>A (p.Cys167Ter)
c.459T>A (p.Cys153Ter)
2g.223959855T>CCA431660179MRPL44c.501T>C (p.Cys167=)
c.459T>C (p.Cys153=)
2g.223959855T>GCA350806946MRPL44c.501T>G (p.Cys167Trp)
c.459T>G (p.Cys153Trp)
2g.223959856C>ACA350806948MRPL44c.502C>A (p.His168Asn)
c.460C>A (p.His154Asn)
2g.223959856C=CA1331308722MRPL44c.502C= (p.His168=)
c.460C= (p.His154=)
2g.223959856C>GCA350806950MRPL44c.502C>G (p.His168Asp)
c.460C>G (p.His154Asp)
2g.223959856C>TCA350806951MRPL44c.502C>T (p.His168Tyr)
c.460C>T (p.His154Tyr)
 dbSNP gnomAD v4
2g.223959857A=CA1331308723MRPL44c.503A= (p.His168=)
c.461A= (p.His154=)
2g.223959857A>CCA350806957MRPL44c.503A>C (p.His168Pro)
c.461A>C (p.His154Pro)
2g.223959857A>GCA350806959MRPL44c.503A>G (p.His168Arg)
c.461A>G (p.His154Arg)
2g.223959857A>TCA2139057MRPL44c.503A>T (p.His168Leu)
c.461A>T (p.His154Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959858C>ACA350806961MRPL44c.504C>A (p.His168Gln)
c.462C>A (p.His154Gln)
2g.223959858C=CA1331308724MRPL44c.504C= (p.His168=)
c.462C= (p.His154=)
2g.223959858C>GCA2139059MRPL44c.504C>G (p.His168Gln)
c.462C>G (p.His154Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223959858C>TCA2139058MRPL44c.504C>T (p.His168=)
c.462C>T (p.His154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.223959859G>ACA2139061MRPL44c.505G>A (p.Val169Met)
c.463G>A (p.Val155Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223959859G>CCA350806965MRPL44c.505G>C (p.Val169Leu)
c.463G>C (p.Val155Leu)
2g.223959859G=CA1331308725MRPL44c.505G= (p.Val169=)
c.463G= (p.Val155=)
2g.223959859G>TCA2139060MRPL44c.505G>T (p.Val169Leu)
c.463G>T (p.Val155Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959860T>ACA350806972MRPL44c.506T>A (p.Val169Glu)
c.464T>A (p.Val155Glu)
2g.223959860T>CCA350806971MRPL44c.506T>C (p.Val169Ala)
c.464T>C (p.Val155Ala)
2g.223959860T>GCA350806969MRPL44c.506T>G (p.Val169Gly)
c.464T>G (p.Val155Gly)
2g.223959861G>ACA431660180MRPL44c.507G>A (p.Val169=)
c.465G>A (p.Val155=)
2g.223959861G>CCA431660182MRPL44c.507G>C (p.Val169=)
c.465G>C (p.Val155=)
 gnomAD v4
2g.223959861G>TCA431660181MRPL44c.507G>T (p.Val169=)
c.465G>T (p.Val155=)
2g.223959862G>ACA350806974MRPL44c.508G>A (p.Ala170Thr)
c.466G>A (p.Ala156Thr)
 dbSNP gnomAD v2
2g.223959862G>CCA350806976MRPL44c.508G>C (p.Ala170Pro)
c.466G>C (p.Ala156Pro)
2g.223959862G=CA1331308726MRPL44c.508G= (p.Ala170=)
c.466G= (p.Ala156=)
2g.223959862G>TCA350806977MRPL44c.508G>T (p.Ala170Ser)
c.466G>T (p.Ala156Ser)
2g.223959863C>ACA350806979MRPL44c.509C>A (p.Ala170Asp)
c.467C>A (p.Ala156Asp)
2g.223959863C>GCA350806981MRPL44c.509C>G (p.Ala170Gly)
c.467C>G (p.Ala156Gly)
2g.223959863C>TCA350806982MRPL44c.509C>T (p.Ala170Val)
c.467C>T (p.Ala156Val)
 gnomAD v4
2g.223959864T>ACA431660183MRPL44c.510T>A (p.Ala170=)
c.468T>A (p.Ala156=)
2g.223959864T>CCA431660184MRPL44c.510T>C (p.Ala170=)
c.468T>C (p.Ala156=)
 dbSNP
2g.223959864T>GCA431660185MRPL44c.510T>G (p.Ala170=)
c.468T>G (p.Ala156=)
2g.223959864T=CA1331308727MRPL44c.510T= (p.Ala170=)
c.468T= (p.Ala156=)
2g.223959865A=CA1331308728MRPL44c.511A= (p.Arg171=)
c.469A= (p.Arg157=)
2g.223959865A>CCA431660186MRPL44c.511A>C (p.Arg171=)
c.469A>C (p.Arg157=)
 dbSNP
2g.223959865A>GCA350806985MRPL44c.511A>G (p.Arg171Gly)
c.469A>G (p.Arg157Gly)
 dbSNP gnomAD v4
2g.223959865A>TCA350806986MRPL44c.511A>T (p.Arg171Ter)
c.469A>T (p.Arg157Ter)
2g.223959866G>ACA350806988MRPL44c.512G>A (p.Arg171Lys)
c.470G>A (p.Arg157Lys)
2g.223959866G>CCA350806990MRPL44c.512G>C (p.Arg171Thr)
c.470G>C (p.Arg157Thr)
2g.223959866G>TCA350806992MRPL44c.512G>T (p.Arg171Ile)
c.470G>T (p.Arg157Ile)
2g.223959867A>CCA350806998MRPL44c.513A>C (p.Arg171Ser)
c.471A>C (p.Arg157Ser)
2g.223959867A>GCA431660187MRPL44c.513A>G (p.Arg171=)
c.471A>G (p.Arg157=)
2g.223959867A>TCA350807001MRPL44c.513A>T (p.Arg171Ser)
c.471A>T (p.Arg157Ser)
2g.223959868A>CCA350807005MRPL44c.514A>C (p.Asn172His)
c.472A>C (p.Asn158His)
2g.223959868A>GCA350807009MRPL44c.514A>G (p.Asn172Asp)
c.472A>G (p.Asn158Asp)
2g.223959868A>TCA350807007MRPL44c.514A>T (p.Asn172Tyr)
c.472A>T (p.Asn158Tyr)
2g.223959869A>CCA350807011MRPL44c.515A>C (p.Asn172Thr)
c.473A>C (p.Asn158Thr)
2g.223959869A>GCA350807015MRPL44c.515A>G (p.Asn172Ser)
c.473A>G (p.Asn158Ser)
2g.223959869A>TCA350807013MRPL44c.515A>T (p.Asn172Ile)
c.473A>T (p.Asn158Ile)
2g.223959870C>ACA350807016MRPL44c.516C>A (p.Asn172Lys)
c.474C>A (p.Asn158Lys)
2g.223959870C=CA1331308729MRPL44c.516C= (p.Asn172=)
c.474C= (p.Asn158=)
2g.223959870C>GCA350807019MRPL44c.516C>G (p.Asn172Lys)
c.474C>G (p.Asn158Lys)
2g.223959870C>TCA65896710MRPL44c.516C>T (p.Asn172=)
c.474C>T (p.Asn158=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223959871T>ACA350807023MRPL44c.517T>A (p.Leu173Met)
c.475T>A (p.Leu159Met)
2g.223959871T>CCA431660188MRPL44c.517T>C (p.Leu173=)
c.475T>C (p.Leu159=)
2g.223959871T>GCA350807024MRPL44c.517T>G (p.Leu173Val)
c.475T>G (p.Leu159Val)
2g.223959872T>ACA350807027MRPL44c.518T>A (p.Leu173Ter)
c.476T>A (p.Leu159Ter)
2g.223959872T>CCA350807029MRPL44c.518T>C (p.Leu173Ser)
c.476T>C (p.Leu159Ser)
2g.223959872T>GCA350807031MRPL44c.518T>G (p.Leu173Trp)
c.476T>G (p.Leu159Trp)
2g.223959873G>ACA431660189MRPL44c.519G>A (p.Leu173=)
c.477G>A (p.Leu159=)
2g.223959873G>CCA350807033MRPL44c.519G>C (p.Leu173Phe)
c.477G>C (p.Leu159Phe)
2g.223959873G>TCA350807035MRPL44c.519G>T (p.Leu173Phe)
c.477G>T (p.Leu159Phe)
2g.223959874G>ACA350807038MRPL44c.520G>A (p.Ala174Thr)
c.478G>A (p.Ala160Thr)
 ClinVar dbSNP
2g.223959874G>CCA350807039MRPL44c.520G>C (p.Ala174Pro)
c.478G>C (p.Ala160Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.223959874G>TCA350807041MRPL44c.520G>T (p.Ala174Ser)
c.478G>T (p.Ala160Ser)
2g.223959875C>ACA350807043MRPL44c.521C>A (p.Ala174Asp)
c.479C>A (p.Ala160Asp)
2g.223959875C>GCA350807045MRPL44c.521C>G (p.Ala174Gly)
c.479C>G (p.Ala160Gly)
2g.223959875C>TCA350807047MRPL44c.521C>T (p.Ala174Val)
c.479C>T (p.Ala160Val)
 COSMIC
2g.223959876T>ACA431660190MRPL44c.522T>A (p.Ala174=)
c.480T>A (p.Ala160=)
2g.223959876T>CCA431660192MRPL44c.522T>C (p.Ala174=)
c.480T>C (p.Ala160=)
2g.223959876T>GCA431660191MRPL44c.522T>G (p.Ala174=)
c.480T>G (p.Ala160=)
2g.223959877G>ACA350807051MRPL44c.523G>A (p.Val175Met)
c.481G>A (p.Val161Met)
2g.223959877G>CCA350807049MRPL44c.523G>C (p.Val175Leu)
c.481G>C (p.Val161Leu)
2g.223959877G>TCA350807050MRPL44c.523G>T (p.Val175Leu)
c.481G>T (p.Val161Leu)
2g.223959878T>ACA350807053MRPL44c.524T>A (p.Val175Glu)
c.482T>A (p.Val161Glu)
2g.223959878T>CCA350807055MRPL44c.524T>C (p.Val175Ala)
c.482T>C (p.Val161Ala)
2g.223959878T>GCA350807056MRPL44c.524T>G (p.Val175Gly)
c.482T>G (p.Val161Gly)
2g.223959879G>ACA431660193MRPL44c.525G>A (p.Val175=)
c.483G>A (p.Val161=)
2g.223959879G>CCA431660194MRPL44c.525G>C (p.Val175=)
c.483G>C (p.Val161=)
2g.223959879G=CA1331308730MRPL44c.525G= (p.Val175=)
c.483G= (p.Val161=)
2g.223959879G>TCA431660195MRPL44c.525G>T (p.Val175=)
c.483G>T (p.Val161=)
 dbSNP gnomAD v2 gnomAD v4
2g.223959880G>ACA350807059MRPL44c.526G>A (p.Glu176Lys)
c.484G>A (p.Glu162Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.223959880G>CCA350807061MRPL44c.526G>C (p.Glu176Gln)
c.484G>C (p.Glu162Gln)
2g.223959880G=CA1331308731MRPL44c.526G= (p.Glu176=)
c.484G= (p.Glu162=)
2g.223959880G>TCA350807062MRPL44c.526G>T (p.Glu176Ter)
c.484G>T (p.Glu162Ter)
2g.223959881A=CA1331308732MRPL44c.527A= (p.Glu176=)
c.485A= (p.Glu162=)
2g.223959881A>CCA350807064MRPL44c.527A>C (p.Glu176Ala)
c.485A>C (p.Glu162Ala)
2g.223959881A>GCA350807066MRPL44c.527A>G (p.Glu176Gly)
c.485A>G (p.Glu162Gly)
 dbSNP
2g.223959881A>TCA350807068MRPL44c.527A>T (p.Glu176Val)
c.485A>T (p.Glu162Val)
2g.223959882G>ACA431660196MRPL44c.528G>A (p.Glu176=)
c.486G>A (p.Glu162=)
 gnomAD v4
2g.223959882G>CCA350807070MRPL44c.528G>C (p.Glu176Asp)
c.486G>C (p.Glu162Asp)
2g.223959882G>TCA350807072MRPL44c.528G>T (p.Glu176Asp)
c.486G>T (p.Glu162Asp)
2g.223959883C>ACA350807076MRPL44c.529C>A (p.Gln177Lys)
c.487C>A (p.Gln163Lys)
2g.223959883C>GCA350807077MRPL44c.529C>G (p.Gln177Glu)
c.487C>G (p.Gln163Glu)
2g.223959883C>TCA350807074MRPL44c.529C>T (p.Gln177Ter)
c.487C>T (p.Gln163Ter)
 gnomAD v4
2g.223959884A=CA1331308733MRPL44c.530A= (p.Gln177=)
c.488A= (p.Gln163=)
2g.223959884A>CCA350807078MRPL44c.530A>C (p.Gln177Pro)
c.488A>C (p.Gln163Pro)
2g.223959884A>GCA350807080MRPL44c.530A>G (p.Gln177Arg)
c.488A>G (p.Gln163Arg)
 dbSNP gnomAD v4
2g.223959884A>TCA350807082MRPL44c.530A>T (p.Gln177Leu)
c.488A>T (p.Gln163Leu)
2g.223959885G>ACA431660197MRPL44c.531G>A (p.Gln177=)
c.489G>A (p.Gln163=)
2g.223959885G>CCA350807086MRPL44c.531G>C (p.Gln177His)
c.489G>C (p.Gln163His)
2g.223959885G>TCA350807087MRPL44c.531G>T (p.Gln177His)
c.489G>T (p.Gln163His)
2g.223959886T>ACA350807088MRPL44c.532T>A (p.Leu178Ile)
c.490T>A (p.Leu164Ile)
2g.223959886T>CCA431660198MRPL44c.532T>C (p.Leu178=)
c.490T>C (p.Leu164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223959886T>GCA350807089MRPL44c.532T>G (p.Leu178Val)
c.490T>G (p.Leu164Val)
2g.223959886T=CA1331308734MRPL44c.532T= (p.Leu178=)
c.490T= (p.Leu164=)
2g.223959887T>ACA350807092MRPL44c.533T>A (p.Leu178Ter)
c.491T>A (p.Leu164Ter)
2g.223959887T>CCA350807094MRPL44c.533T>C (p.Leu178Ser)
c.491T>C (p.Leu164Ser)
2g.223959887T>GCA350807095MRPL44c.533T>G (p.Leu178Ter)
c.491T>G (p.Leu164Ter)
2g.223959888A>CCA350807097MRPL44c.534A>C (p.Leu178Phe)
c.492A>C (p.Leu164Phe)
2g.223959888A>GCA431660199MRPL44c.534A>G (p.Leu178=)
c.492A>G (p.Leu164=)
2g.223959888A>TCA350807099MRPL44c.534A>T (p.Leu178Phe)
c.492A>T (p.Leu164Phe)
2g.223959889A>CCA350807104MRPL44c.535A>C (p.Thr179Pro)
c.493A>C (p.Thr165Pro)
2g.223959889A>GCA350807101MRPL44c.535A>G (p.Thr179Ala)
c.493A>G (p.Thr165Ala)
2g.223959889A>TCA350807103MRPL44c.535A>T (p.Thr179Ser)
c.493A>T (p.Thr165Ser)
2g.223959890C>ACA350807106MRPL44c.536C>A (p.Thr179Lys)
c.494C>A (p.Thr165Lys)
2g.223959890C=CA1331308735MRPL44c.536C= (p.Thr179=)
c.494C= (p.Thr165=)
2g.223959890C>GCA350807108MRPL44c.536C>G (p.Thr179Arg)
c.494C>G (p.Thr165Arg)
2g.223959890C>TCA350807110MRPL44c.536C>T (p.Thr179Ile)
c.494C>T (p.Thr165Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.223959891A=CA1331308736MRPL44c.537A= (p.Thr179=)
c.495A= (p.Thr165=)
2g.223959891A>CCA431660201MRPL44c.537A>C (p.Thr179=)
c.495A>C (p.Thr165=)
2g.223959891A>GCA2139062MRPL44c.537A>G (p.Thr179=)
c.495A>G (p.Thr165=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223959891A>TCA431660200MRPL44c.537A>T (p.Thr179=)
c.495A>T (p.Thr165=)
2g.223959892C>ACA350807113MRPL44c.538C>A (p.Leu180Met)
c.496C>A (p.Leu166Met)
2g.223959892C>GCA350807114MRPL44c.538C>G (p.Leu180Val)
c.496C>G (p.Leu166Val)
2g.223959892C>TCA431660202MRPL44c.538C>T (p.Leu180=)
c.496C>T (p.Leu166=)
 gnomAD v4
2g.223959893T>ACA350807115MRPL44c.539T>A (p.Leu180Gln)
c.497T>A (p.Leu166Gln)
2g.223959893T>CCA350807116MRPL44c.539T>C (p.Leu180Pro)
c.497T>C (p.Leu166Pro)
2g.223959893T>GCA350807117MRPL44c.539T>G (p.Leu180Arg)
c.497T>G (p.Leu166Arg)
2g.223959896_223959899delCA2577259624MRPL44c.542_545del (p.Ser181LysfsTer?)
c.500_503del (p.Ser167LysfsTer?)
 gnomAD v4
2g.223959894G>ACA431660203MRPL44c.540G>A (p.Leu180=)
c.498G>A (p.Leu166=)
 gnomAD v4
2g.223959894G>CCA431660204MRPL44c.540G>C (p.Leu180=)
c.498G>C (p.Leu166=)
2g.223959894G>TCA431660205MRPL44c.540G>T (p.Leu180=)
c.498G>T (p.Leu166=)
2g.223959895A>CCA350807118MRPL44c.541A>C (p.Ser181Arg)
c.499A>C (p.Ser167Arg)
2g.223959895A>GCA350807120MRPL44c.541A>G (p.Ser181Gly)
c.499A>G (p.Ser167Gly)
2g.223959895A>TCA350807121MRPL44c.541A>T (p.Ser181Cys)
c.499A>T (p.Ser167Cys)
2g.223959896G>ACA350807125MRPL44c.542G>A (p.Ser181Asn)
c.500G>A (p.Ser167Asn)
2g.223959896G>CCA350807124MRPL44c.542G>C (p.Ser181Thr)
c.500G>C (p.Ser167Thr)
2g.223959896G>TCA350807122MRPL44c.542G>T (p.Ser181Ile)
c.500G>T (p.Ser167Ile)
2g.223959897T>ACA350807127MRPL44c.543T>A (p.Ser181Arg)
c.501T>A (p.Ser167Arg)
2g.223959897T>CCA431660207MRPL44c.543T>C (p.Ser181=)
c.501T>C (p.Ser167=)
 COSMIC
2g.223959897T>GCA350807129MRPL44c.543T>G (p.Ser181Arg)
c.501T>G (p.Ser167Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.223959897T=CA1331308737MRPL44c.543T= (p.Ser181=)
c.501T= (p.Ser167=)
2g.223959898G>ACA350807131MRPL44c.544G>A (p.Glu182Lys)
c.502G>A (p.Glu168Lys)
 gnomAD v4
2g.223959898G>CCA350807132MRPL44c.544G>C (p.Glu182Gln)
c.502G>C (p.Glu168Gln)
2g.223959898G>TCA350807133MRPL44c.544G>T (p.Glu182Ter)
c.502G>T (p.Glu168Ter)
2g.223959899A=CA1331308738MRPL44c.545A= (p.Glu182=)
c.503A= (p.Glu168=)
2g.223959899A>CCA350807138MRPL44c.545A>C (p.Glu182Ala)
c.503A>C (p.Glu168Ala)
2g.223959899A>GCA350807136MRPL44c.545A>G (p.Glu182Gly)
c.503A>G (p.Glu168Gly)
 dbSNP gnomAD v4
2g.223959899A>TCA350807135MRPL44c.545A>T (p.Glu182Val)
c.503A>T (p.Glu168Val)
2g.223959900A=CA1331308739MRPL44c.546A= (p.Glu182=)
c.504A= (p.Glu168=)
2g.223959900A>CCA350807139MRPL44c.546A>C (p.Glu182Asp)
c.504A>C (p.Glu168Asp)
2g.223959900A>GCA292130MRPL44c.546A>G (p.Glu182=)
c.504A>G (p.Glu168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959900A>TCA350807142MRPL44c.546A>T (p.Glu182Asp)
c.504A>T (p.Glu168Asp)
2g.223959901G>ACA2139063MRPL44c.547G>A (p.Glu183Lys)
c.505G>A (p.Glu169Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959901G>CCA350807145MRPL44c.547G>C (p.Glu183Gln)
c.505G>C (p.Glu169Gln)
2g.223959901G=CA1331308740MRPL44c.547G= (p.Glu183=)
c.505G= (p.Glu169=)
2g.223959901G>TCA350807146MRPL44c.547G>T (p.Glu183Ter)
c.505G>T (p.Glu169Ter)
2g.223959902A>CCA350807151MRPL44c.548A>C (p.Glu183Ala)
c.506A>C (p.Glu169Ala)
2g.223959902A>GCA350807148MRPL44c.548A>G (p.Glu183Gly)
c.506A>G (p.Glu169Gly)
2g.223959902A>TCA350807150MRPL44c.548A>T (p.Glu183Val)
c.506A>T (p.Glu169Val)
2g.223959902_223959911dupCA2663356215MRPL44c.548_557dup (p.Pro187IlefsTer26)
c.506_515dup (p.Pro173IlefsTer26)
 gnomAD v4
2g.223959903A>CCA350807153MRPL44c.549A>C (p.Glu183Asp)
c.507A>C (p.Glu169Asp)
2g.223959903A>GCA431660211MRPL44c.549A>G (p.Glu183=)
c.507A>G (p.Glu169=)
2g.223959903A>TCA350807154MRPL44c.549A>T (p.Glu183Asp)
c.507A>T (p.Glu169Asp)
 gnomAD v4
2g.223959904T>ACA350807156MRPL44c.550T>A (p.Phe184Ile)
c.508T>A (p.Phe170Ile)
2g.223959904T>CCA350807158MRPL44c.550T>C (p.Phe184Leu)
c.508T>C (p.Phe170Leu)
2g.223959904T>GCA350807160MRPL44c.550T>G (p.Phe184Val)
c.508T>G (p.Phe170Val)
2g.223959905T>ACA350807161MRPL44c.551T>A (p.Phe184Tyr)
c.509T>A (p.Phe170Tyr)
2g.223959905T>CCA350807163MRPL44c.551T>C (p.Phe184Ser)
c.509T>C (p.Phe170Ser)
2g.223959905T>GCA350807165MRPL44c.551T>G (p.Phe184Cys)
c.509T>G (p.Phe170Cys)
2g.223959906C>ACA350807166MRPL44c.552C>A (p.Phe184Leu)
c.510C>A (p.Phe170Leu)
2g.223959906C>GCA350807168MRPL44c.552C>G (p.Phe184Leu)
c.510C>G (p.Phe170Leu)
2g.223959906C>TCA431660214MRPL44c.552C>T (p.Phe184=)
c.510C>T (p.Phe170=)
2g.223959907C>ACA350807170MRPL44c.553C>A (p.Pro185Thr)
c.511C>A (p.Pro171Thr)
2g.223959907C=CA1331308741MRPL44c.553C= (p.Pro185=)
c.511C= (p.Pro171=)
2g.223959907C>GCA350807172MRPL44c.553C>G (p.Pro185Ala)
c.511C>G (p.Pro171Ala)
2g.223959907C>TCA350807174MRPL44c.553C>T (p.Pro185Ser)
c.511C>T (p.Pro171Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.223959908C>ACA350807175MRPL44c.554C>A (p.Pro185Gln)
c.512C>A (p.Pro171Gln)
2g.223959908C>GCA350807179MRPL44c.554C>G (p.Pro185Arg)
c.512C>G (p.Pro171Arg)
2g.223959908C>TCA350807177MRPL44c.554C>T (p.Pro185Leu)
c.512C>T (p.Pro171Leu)
2g.223959909delCA2663356216MRPL44c.555del (p.Val186CysfsTer?)
c.513del (p.Val172CysfsTer?)
 gnomAD v4
2g.223959909A>CCA431660218MRPL44c.555A>C (p.Pro185=)
c.513A>C (p.Pro171=)
2g.223959909A>GCA431660219MRPL44c.555A>G (p.Pro185=)
c.513A>G (p.Pro171=)
 gnomAD v4
2g.223959909A>TCA431660220MRPL44c.555A>T (p.Pro185=)
c.513A>T (p.Pro171=)
 gnomAD v4
2g.223959910G>ACA350807180MRPL44c.556G>A (p.Val186Met)
c.514G>A (p.Val172Met)
 dbSNP
2g.223959910G>CCA350807182MRPL44c.556G>C (p.Val186Leu)
c.514G>C (p.Val172Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223959910G=CA1331308742MRPL44c.556G= (p.Val186=)
c.514G= (p.Val172=)
2g.223959910G>TCA350807184MRPL44c.556G>T (p.Val186Leu)
c.514G>T (p.Val172Leu)
2g.223959911T>ACA350807185MRPL44c.557T>A (p.Val186Glu)
c.515T>A (p.Val172Glu)
2g.223959911T>CCA350807187MRPL44c.557T>C (p.Val186Ala)
c.515T>C (p.Val172Ala)
2g.223959911T>GCA350807188MRPL44c.557T>G (p.Val186Gly)
c.515T>G (p.Val172Gly)
2g.223959912G>ACA431660223MRPL44c.558G>A (p.Val186=)
c.516G>A (p.Val172=)
 COSMIC
2g.223959912G>CCA431660221MRPL44c.558G>C (p.Val186=)
c.516G>C (p.Val172=)
 dbSNP gnomAD v3 gnomAD v4
2g.223959912G=CA1331308743MRPL44c.558G= (p.Val186=)
c.516G= (p.Val172=)
2g.223959912G>TCA431660222MRPL44c.558G>T (p.Val186=)
c.516G>T (p.Val172=)
2g.223959913C>ACA350807190MRPL44c.559C>A (p.Pro187Thr)
c.517C>A (p.Pro173Thr)
2g.223959913C>GCA350807192MRPL44c.559C>G (p.Pro187Ala)
c.517C>G (p.Pro173Ala)
2g.223959913C>TCA350807193MRPL44c.559C>T (p.Pro187Ser)
c.517C>T (p.Pro173Ser)
 gnomAD v4
2g.223959917dupCA2577259629MRPL44c.563dup (p.Ala189SerfsTer21)
c.521dup (p.Ala175SerfsTer21)
 gnomAD v4
2g.223959914C>ACA350807196MRPL44c.560C>A (p.Pro187His)
c.518C>A (p.Pro173His)
2g.223959914C=CA1331308744MRPL44c.560C= (p.Pro187=)
c.518C= (p.Pro173=)
2g.223959914C>GCA350807198MRPL44c.560C>G (p.Pro187Arg)
c.518C>G (p.Pro173Arg)
2g.223959914C>TCA65896721MRPL44c.560C>T (p.Pro187Leu)
c.518C>T (p.Pro173Leu)
 dbSNP
2g.223959915C>ACA431660225MRPL44c.561C>A (p.Pro187=)
c.519C>A (p.Pro173=)
2g.223959915C=CA1331308745MRPL44c.561C= (p.Pro187=)
c.519C= (p.Pro173=)
2g.223959915C>GCA2139064MRPL44c.561C>G (p.Pro187=)
c.519C>G (p.Pro173=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223959915C>TCA65896722MRPL44c.561C>T (p.Pro187=)
c.519C>T (p.Pro173=)
 dbSNP gnomAD v3 gnomAD v4
2g.223959916C>ACA350807203MRPL44c.562C>A (p.Pro188Thr)
c.520C>A (p.Pro174Thr)
2g.223959916C=CA1331308746MRPL44c.562C= (p.Pro188=)
c.520C= (p.Pro174=)
2g.223959916C>GCA350807205MRPL44c.562C>G (p.Pro188Ala)
c.520C>G (p.Pro174Ala)
2g.223959916C>TCA2139065MRPL44c.562C>T (p.Pro188Ser)
c.520C>T (p.Pro174Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.223959917C>ACA350807207MRPL44c.563C>A (p.Pro188Gln)
c.521C>A (p.Pro174Gln)
2g.223959917C>GCA350807209MRPL44c.563C>G (p.Pro188Arg)
c.521C>G (p.Pro174Arg)
2g.223959917C>TCA350807211MRPL44c.563C>T (p.Pro188Leu)
c.521C>T (p.Pro174Leu)
 gnomAD v4
2g.223959918A>CCA431660227MRPL44c.564A>C (p.Pro188=)
c.522A>C (p.Pro174=)
2g.223959918A>GCA431660228MRPL44c.564A>G (p.Pro188=)
c.522A>G (p.Pro174=)
 gnomAD v4
2g.223959918A>TCA431660229MRPL44c.564A>T (p.Pro188=)
c.522A>T (p.Pro174=)
2g.223959919G>ACA350807213MRPL44c.565G>A (p.Ala189Thr)
c.523G>A (p.Ala175Thr)
 dbSNP
2g.223959919G>CCA65896725MRPL44c.565G>C (p.Ala189Pro)
c.523G>C (p.Ala175Pro)
 dbSNP
2g.223959919G=CA1331308747MRPL44c.565G= (p.Ala189=)
c.523G= (p.Ala175=)
2g.223959919G>TCA350807216MRPL44c.565G>T (p.Ala189Ser)
c.523G>T (p.Ala175Ser)
2g.223959920C>ACA350807218MRPL44c.566C>A (p.Ala189Asp)
c.524C>A (p.Ala175Asp)
2g.223959920C=CA1331308748MRPL44c.566C= (p.Ala189=)
c.524C= (p.Ala175=)
2g.223959920C>GCA350807220MRPL44c.566C>G (p.Ala189Gly)
c.524C>G (p.Ala175Gly)
2g.223959920C>TCA65896732MRPL44c.566C>T (p.Ala189Val)
c.524C>T (p.Ala175Val)
 dbSNP gnomAD v4
2g.223959921T>ACA431660233MRPL44c.567T>A (p.Ala189=)
c.525T>A (p.Ala175=)
2g.223959921T>CCA431660234MRPL44c.567T>C (p.Ala189=)
c.525T>C (p.Ala175=)
2g.223959921T>GCA431660236MRPL44c.567T>G (p.Ala189=)
c.525T>G (p.Ala175=)

Number of alleles fetched