Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99583407C>ACA357502069MTTPc.283C>A (p.Gln95Lys)
c.34C>A (p.Gln12Lys)
c.*373C>A (n.*373C>A)
c.313C>A (p.Gln105Lys)
c.364C>A (p.Gln122Lys)
c.*346C>A (n.*346C>A)
4g.99583407C>GCA357502071MTTPc.283C>G (p.Gln95Glu)
c.34C>G (p.Gln12Glu)
c.*373C>G (n.*373C>G)
c.313C>G (p.Gln105Glu)
c.364C>G (p.Gln122Glu)
c.*346C>G (n.*346C>G)
4g.99583407C>TCA357502070MTTPc.283C>T (p.Gln95Ter)
c.34C>T (p.Gln12Ter)
c.*373C>T (n.*373C>T)
c.313C>T (p.Gln105Ter)
c.364C>T (p.Gln122Ter)
c.*346C>T (n.*346C>T)
4g.99583408A>CCA357502073MTTPc.284A>C (p.Gln95Pro)
c.35A>C (p.Gln12Pro)
c.*374A>C (n.*374A>C)
c.314A>C (p.Gln105Pro)
c.365A>C (p.Gln122Pro)
c.*347A>C (n.*347A>C)
4g.99583408A>GCA357502076MTTPc.284A>G (p.Gln95Arg)
c.35A>G (p.Gln12Arg)
c.*374A>G (n.*374A>G)
c.314A>G (p.Gln105Arg)
c.365A>G (p.Gln122Arg)
c.*347A>G (n.*347A>G)
4g.99583408A>TCA357502075MTTPc.284A>T (p.Gln95Leu)
c.35A>T (p.Gln12Leu)
c.*374A>T (n.*374A>T)
c.314A>T (p.Gln105Leu)
c.365A>T (p.Gln122Leu)
c.*347A>T (n.*347A>T)
4g.99583409G>ACA440328598MTTPc.285G>A (p.Gln95=)
c.36G>A (p.Gln12=)
c.*375G>A (n.*375G>A)
c.315G>A (p.Gln105=)
c.366G>A (p.Gln122=)
c.*348G>A (n.*348G>A)
4g.99583409G>CCA202705MTTPc.285G>C (p.Gln95His)
c.36G>C (p.Gln12His)
c.*375G>C (n.*375G>C)
c.315G>C (p.Gln105His)
c.366G>C (p.Gln122His)
c.*348G>C (n.*348G>C)
ClinVar dbSNP ExAC gnomAD
4g.99583409G=CA1480066677MTTPc.285G= (p.Gln95=)
c.36G= (p.Gln12=)
c.*375G= (n.*375G=)
c.315G= (p.Gln105=)
c.366G= (p.Gln122=)
c.*348G= (n.*348G=)
4g.99583409G>TCA357502078MTTPc.285G>T (p.Gln95His)
c.36G>T (p.Gln12His)
c.*375G>T (n.*375G>T)
c.315G>T (p.Gln105His)
c.366G>T (p.Gln122His)
c.*348G>T (n.*348G>T)
4g.99583410A>CCA440328599MTTPc.286A>C (p.Arg96=)
c.37A>C (p.Arg13=)
c.*376A>C (n.*376A>C)
c.316A>C (p.Arg106=)
c.367A>C (p.Arg123=)
c.*349A>C (n.*349A>C)
4g.99583410A>GCA357502080MTTPc.286A>G (p.Arg96Gly)
c.37A>G (p.Arg13Gly)
c.*376A>G (n.*376A>G)
c.316A>G (p.Arg106Gly)
c.367A>G (p.Arg123Gly)
c.*349A>G (n.*349A>G)
4g.99583410A>TCA357502082MTTPc.286A>T (p.Arg96Ter)
c.37A>T (p.Arg13Ter)
c.*376A>T (n.*376A>T)
c.316A>T (p.Arg106Ter)
c.367A>T (p.Arg123Ter)
c.*349A>T (n.*349A>T)
4g.99583411G>ACA357502084MTTPc.287G>A (p.Arg96Lys)
c.38G>A (p.Arg13Lys)
c.*377G>A (n.*377G>A)
c.317G>A (p.Arg106Lys)
c.368G>A (p.Arg123Lys)
c.*350G>A (n.*350G>A)
4g.99583411G>CCA357502086MTTPc.287G>C (p.Arg96Thr)
c.38G>C (p.Arg13Thr)
c.*377G>C (n.*377G>C)
c.317G>C (p.Arg106Thr)
c.368G>C (p.Arg123Thr)
c.*350G>C (n.*350G>C)
4g.99583411G=CA1480066682MTTPc.287G= (p.Arg96=)
c.38G= (p.Arg13=)
c.*377G= (n.*377G=)
c.317G= (p.Arg106=)
c.368G= (p.Arg123=)
c.*350G= (n.*350G=)
4g.99583411G>TCA357502087MTTPc.287G>T (p.Arg96Ile)
c.38G>T (p.Arg13Ile)
c.*377G>T (n.*377G>T)
c.317G>T (p.Arg106Ile)
c.368G>T (p.Arg123Ile)
c.*350G>T (n.*350G>T)
4g.99583412A>CCA357502088MTTPc.288A>C (p.Arg96Ser)
c.39A>C (p.Arg13Ser)
c.*378A>C (n.*378A>C)
c.318A>C (p.Arg106Ser)
c.369A>C (p.Arg123Ser)
c.*351A>C (n.*351A>C)
4g.99583412A>GCA440328600MTTPc.288A>G (p.Arg96=)
c.39A>G (p.Arg13=)
c.*378A>G (n.*378A>G)
c.318A>G (p.Arg106=)
c.369A>G (p.Arg123=)
c.*351A>G (n.*351A>G)
4g.99583412A>TCA357502091MTTPc.288A>T (p.Arg96Ser)
c.39A>T (p.Arg13Ser)
c.*378A>T (n.*378A>T)
c.318A>T (p.Arg106Ser)
c.369A>T (p.Arg123Ser)
c.*351A>T (n.*351A>T)
4g.99583413G>ACA357502093MTTPc.289G>A (p.Gly97Arg)
c.40G>A (p.Gly14Arg)
c.*379G>A (n.*379G>A)
c.319G>A (p.Gly107Arg)
c.370G>A (p.Gly124Arg)
c.*352G>A (n.*352G>A)
4g.99583413G>CCA357502095MTTPc.289G>C (p.Gly97Arg)
c.40G>C (p.Gly14Arg)
c.*379G>C (n.*379G>C)
c.319G>C (p.Gly107Arg)
c.370G>C (p.Gly124Arg)
c.*352G>C (n.*352G>C)
4g.99583413G>TCA357502097MTTPc.289G>T (p.Gly97Ter)
c.40G>T (p.Gly14Ter)
c.*379G>T (n.*379G>T)
c.319G>T (p.Gly107Ter)
c.370G>T (p.Gly124Ter)
c.*352G>T (n.*352G>T)
4g.99583414delCA2499217351MTTPc.290del (p.Gly97GlufsTer14)
c.41del (p.Gly14GlufsTer?)
c.41del (p.Gly14GlufsTer14)
c.*380del (n.*380del)
c.320del (p.Gly107GlufsTer14)
c.371del (p.Gly124GlufsTer14)
c.*353del (n.*353del)
ClinVar
4g.99583414G>ACA3021797MTTPc.290G>A (p.Gly97Glu)
c.41G>A (p.Gly14Glu)
c.*380G>A (n.*380G>A)
c.320G>A (p.Gly107Glu)
c.371G>A (p.Gly124Glu)
c.*353G>A (n.*353G>A)
dbSNP ExAC gnomAD
4g.99583414G>CCA357502099MTTPc.290G>C (p.Gly97Ala)
c.41G>C (p.Gly14Ala)
c.*380G>C (n.*380G>C)
c.320G>C (p.Gly107Ala)
c.371G>C (p.Gly124Ala)
c.*353G>C (n.*353G>C)
4g.99583414G=CA1480066689MTTPc.290G= (p.Gly97=)
c.41G= (p.Gly14=)
c.*380G= (n.*380G=)
c.320G= (p.Gly107=)
c.371G= (p.Gly124=)
c.*353G= (n.*353G=)
4g.99583414G>TCA357502100MTTPc.290G>T (p.Gly97Val)
c.41G>T (p.Gly14Val)
c.*380G>T (n.*380G>T)
c.320G>T (p.Gly107Val)
c.371G>T (p.Gly124Val)
c.*353G>T (n.*353G>T)
4g.99583415A>CCA440328601MTTPc.291A>C (p.Gly97=)
c.42A>C (p.Gly14=)
c.*381A>C (n.*381A>C)
c.321A>C (p.Gly107=)
c.372A>C (p.Gly124=)
c.*354A>C (n.*354A>C)
ClinVar
4g.99583415A>GCA440328602MTTPc.291A>G (p.Gly97=)
c.42A>G (p.Gly14=)
c.*381A>G (n.*381A>G)
c.321A>G (p.Gly107=)
c.372A>G (p.Gly124=)
c.*354A>G (n.*354A>G)
4g.99583415A>TCA440328603MTTPc.291A>T (p.Gly97=)
c.42A>T (p.Gly14=)
c.*381A>T (n.*381A>T)
c.321A>T (p.Gly107=)
c.372A>T (p.Gly124=)
c.*354A>T (n.*354A>T)
4g.99583416G>ACA357502104MTTPc.292G>A (p.Glu98Lys)
c.43G>A (p.Glu15Lys)
c.*382G>A (n.*382G>A)
c.322G>A (p.Glu108Lys)
c.373G>A (p.Glu125Lys)
c.*355G>A (n.*355G>A)
4g.99583416G>CCA3021798MTTPc.292G>C (p.Glu98Gln)
c.43G>C (p.Glu15Gln)
c.*382G>C (n.*382G>C)
c.322G>C (p.Glu108Gln)
c.373G>C (p.Glu125Gln)
c.*355G>C (n.*355G>C)
dbSNP ExAC gnomAD
4g.99583416G=CA1480066693MTTPc.292G= (p.Glu98=)
c.43G= (p.Glu15=)
c.*382G= (n.*382G=)
c.322G= (p.Glu108=)
c.373G= (p.Glu125=)
c.*355G= (n.*355G=)
4g.99583416G>TCA357502107MTTPc.292G>T (p.Glu98Ter)
c.43G>T (p.Glu15Ter)
c.*382G>T (n.*382G>T)
c.322G>T (p.Glu108Ter)
c.373G>T (p.Glu125Ter)
c.*355G>T (n.*355G>T)
4g.99583417A=CA1480066696MTTPc.293A= (p.Glu98=)
c.44A= (p.Glu15=)
c.*383A= (n.*383A=)
c.323A= (p.Glu108=)
c.374A= (p.Glu125=)
c.*356A= (n.*356A=)
4g.99583417A>CCA357502110MTTPc.293A>C (p.Glu98Ala)
c.44A>C (p.Glu15Ala)
c.*383A>C (n.*383A>C)
c.323A>C (p.Glu108Ala)
c.374A>C (p.Glu125Ala)
c.*356A>C (n.*356A>C)
4g.99583417A>GCA357502112MTTPc.293A>G (p.Glu98Gly)
c.44A>G (p.Glu15Gly)
c.*383A>G (n.*383A>G)
c.323A>G (p.Glu108Gly)
c.374A>G (p.Glu125Gly)
c.*356A>G (n.*356A>G)
4g.99583417A>TCA357502114MTTPc.293A>T (p.Glu98Val)
c.44A>T (p.Glu15Val)
c.*383A>T (n.*383A>T)
c.323A>T (p.Glu108Val)
c.374A>T (p.Glu125Val)
c.*356A>T (n.*356A>T)
4g.99583418G>ACA440328604MTTPc.294G>A (p.Glu98=)
c.45G>A (p.Glu15=)
c.*384G>A (n.*384G>A)
c.324G>A (p.Glu108=)
c.375G>A (p.Glu125=)
c.*357G>A (n.*357G>A)
4g.99583418G>CCA3021799MTTPc.294G>C (p.Glu98Asp)
c.45G>C (p.Glu15Asp)
c.*384G>C (n.*384G>C)
c.324G>C (p.Glu108Asp)
c.375G>C (p.Glu125Asp)
c.*357G>C (n.*357G>C)
ClinVar dbSNP ExAC gnomAD
4g.99583418G=CA1480066702MTTPc.294G= (p.Glu98=)
c.45G= (p.Glu15=)
c.*384G= (n.*384G=)
c.324G= (p.Glu108=)
c.375G= (p.Glu125=)
c.*357G= (n.*357G=)
4g.99583418G>TCA102617498MTTPc.294G>T (p.Glu98Asp)
c.45G>T (p.Glu15Asp)
c.*384G>T (n.*384G>T)
c.324G>T (p.Glu108Asp)
c.375G>T (p.Glu125Asp)
c.*357G>T (n.*357G>T)
dbSNP
4g.99583419A>CCA357502116MTTPc.295A>C (p.Lys99Gln)
c.46A>C (p.Lys16Gln)
c.*385A>C (n.*385A>C)
c.325A>C (p.Lys109Gln)
c.376A>C (p.Lys126Gln)
c.*358A>C (n.*358A>C)
4g.99583419A>GCA357502118MTTPc.295A>G (p.Lys99Glu)
c.46A>G (p.Lys16Glu)
c.*385A>G (n.*385A>G)
c.325A>G (p.Lys109Glu)
c.376A>G (p.Lys126Glu)
c.*358A>G (n.*358A>G)
4g.99583419A>TCA357502126MTTPc.295A>T (p.Lys99Ter)
c.46A>T (p.Lys16Ter)
c.*385A>T (n.*385A>T)
c.325A>T (p.Lys109Ter)
c.376A>T (p.Lys126Ter)
c.*358A>T (n.*358A>T)
4g.99583420A=CA1480066703MTTPc.296A= (p.Lys99=)
c.47A= (p.Lys16=)
c.*386A= (n.*386A=)
c.326A= (p.Lys109=)
c.377A= (p.Lys126=)
c.*359A= (n.*359A=)
4g.99583420A>CCA357502131MTTPc.296A>C (p.Lys99Thr)
c.47A>C (p.Lys16Thr)
c.*386A>C (n.*386A>C)
c.326A>C (p.Lys109Thr)
c.377A>C (p.Lys126Thr)
c.*359A>C (n.*359A>C)
4g.99583420A>GCA357502129MTTPc.296A>G (p.Lys99Arg)
c.47A>G (p.Lys16Arg)
c.*386A>G (n.*386A>G)
c.326A>G (p.Lys109Arg)
c.377A>G (p.Lys126Arg)
c.*359A>G (n.*359A>G)
4g.99583420A>TCA357502128MTTPc.296A>T (p.Lys99Met)
c.47A>T (p.Lys16Met)
c.*386A>T (n.*386A>T)
c.326A>T (p.Lys109Met)
c.377A>T (p.Lys126Met)
c.*359A>T (n.*359A>T)

Number of alleles fetched