Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.42699798T>ACA2673723824GHRc.440-26T>A (n.440-26T>A)
c.374-26T>A (n.374-26T>A)
c.*52-26T>A (n.*52-26T>A)
c.461-26T>A (n.461-26T>A)
c.395-26T>A (n.395-26T>A)
 gnomAD v4
5g.42699798T>CCA2673723825GHRc.440-26T>C (n.440-26T>C)
c.374-26T>C (n.374-26T>C)
c.*52-26T>C (n.*52-26T>C)
c.461-26T>C (n.461-26T>C)
c.395-26T>C (n.395-26T>C)
 gnomAD v4
5g.42699799A=CA1542293889GHRc.440-25A= (n.440-25A=)
c.374-25A= (n.374-25A=)
c.*52-25A= (n.*52-25A=)
c.461-25A= (n.461-25A=)
c.395-25A= (n.395-25A=)
5g.42699799A>CCA2578302109GHRc.440-25A>C (n.440-25A>C)
c.374-25A>C (n.374-25A>C)
c.*52-25A>C (n.*52-25A>C)
c.461-25A>C (n.461-25A>C)
c.395-25A>C (n.395-25A>C)
5g.42699799A>GCA810827798GHRc.440-25A>G (n.440-25A>G)
c.374-25A>G (n.374-25A>G)
c.*52-25A>G (n.*52-25A>G)
c.461-25A>G (n.461-25A>G)
c.395-25A>G (n.395-25A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.42699799A>TCA2673723826GHRc.440-25A>T (n.440-25A>T)
c.374-25A>T (n.374-25A>T)
c.*52-25A>T (n.*52-25A>T)
c.461-25A>T (n.461-25A>T)
c.395-25A>T (n.395-25A>T)
 gnomAD v4
5g.42699800C>ACA2673723829GHRc.440-24C>A (n.440-24C>A)
c.374-24C>A (n.374-24C>A)
c.*52-24C>A (n.*52-24C>A)
c.461-24C>A (n.461-24C>A)
c.395-24C>A (n.395-24C>A)
 gnomAD v4
5g.42699800C>GCA2673723828GHRc.440-24C>G (n.440-24C>G)
c.374-24C>G (n.374-24C>G)
c.*52-24C>G (n.*52-24C>G)
c.461-24C>G (n.461-24C>G)
c.395-24C>G (n.395-24C>G)
 gnomAD v4
5g.42699800C>TCA2673723827GHRc.440-24C>T (n.440-24C>T)
c.374-24C>T (n.374-24C>T)
c.*52-24C>T (n.*52-24C>T)
c.461-24C>T (n.461-24C>T)
c.395-24C>T (n.395-24C>T)
 gnomAD v4
5g.42699801T>CCA2673723830GHRc.440-23T>C (n.440-23T>C)
c.374-23T>C (n.374-23T>C)
c.*52-23T>C (n.*52-23T>C)
c.461-23T>C (n.461-23T>C)
c.395-23T>C (n.395-23T>C)
 gnomAD v4
5g.42699801T>GCA2673723831GHRc.440-23T>G (n.440-23T>G)
c.374-23T>G (n.374-23T>G)
c.*52-23T>G (n.*52-23T>G)
c.461-23T>G (n.461-23T>G)
c.395-23T>G (n.395-23T>G)
 gnomAD v4
5g.42699802A>CCA2578302110GHRc.440-22A>C (n.440-22A>C)
c.374-22A>C (n.374-22A>C)
c.*52-22A>C (n.*52-22A>C)
c.461-22A>C (n.461-22A>C)
c.395-22A>C (n.395-22A>C)
5g.42699802A>GCA2673723833GHRc.440-22A>G (n.440-22A>G)
c.374-22A>G (n.374-22A>G)
c.*52-22A>G (n.*52-22A>G)
c.461-22A>G (n.461-22A>G)
c.395-22A>G (n.395-22A>G)
 gnomAD v4
5g.42699802A>TCA2673723834GHRc.440-22A>T (n.440-22A>T)
c.374-22A>T (n.374-22A>T)
c.*52-22A>T (n.*52-22A>T)
c.461-22A>T (n.461-22A>T)
c.395-22A>T (n.395-22A>T)
 gnomAD v4
5g.42699803delCA2673723832GHRc.440-21del (n.440-21del)
c.374-21del (n.374-21del)
c.*52-21del (n.*52-21del)
c.461-21del (n.461-21del)
c.395-21del (n.395-21del)
 gnomAD v4
5g.42699803A>GCA2673723835GHRc.440-21A>G (n.440-21A>G)
c.374-21A>G (n.374-21A>G)
c.*52-21A>G (n.*52-21A>G)
c.461-21A>G (n.461-21A>G)
c.395-21A>G (n.395-21A>G)
 gnomAD v4
5g.42699804T>CCA2673723836GHRc.440-20T>C (n.440-20T>C)
c.374-20T>C (n.374-20T>C)
c.*52-20T>C (n.*52-20T>C)
c.461-20T>C (n.461-20T>C)
c.395-20T>C (n.395-20T>C)
 gnomAD v4
5g.42699805G>ACA2739274695GHRc.440-19G>A (n.440-19G>A)
c.374-19G>A (n.374-19G>A)
c.*52-19G>A (n.*52-19G>A)
c.461-19G>A (n.461-19G>A)
c.395-19G>A (n.395-19G>A)
 ClinVar
5g.42699805G>CCA2673723837GHRc.440-19G>C (n.440-19G>C)
c.374-19G>C (n.374-19G>C)
c.*52-19G>C (n.*52-19G>C)
c.461-19G>C (n.461-19G>C)
c.395-19G>C (n.395-19G>C)
 ClinVar gnomAD v4
5g.42699805G>TCA2673723838GHRc.440-19G>T (n.440-19G>T)
c.374-19G>T (n.374-19G>T)
c.*52-19G>T (n.*52-19G>T)
c.461-19G>T (n.461-19G>T)
c.395-19G>T (n.395-19G>T)
 gnomAD v4
5g.42699806C>ACA2673723839GHRc.440-18C>A (n.440-18C>A)
c.374-18C>A (n.374-18C>A)
c.*52-18C>A (n.*52-18C>A)
c.461-18C>A (n.461-18C>A)
c.395-18C>A (n.395-18C>A)
 gnomAD v4
5g.42699806C=CA1542293891GHRc.440-18C= (n.440-18C=)
c.374-18C= (n.374-18C=)
c.*52-18C= (n.*52-18C=)
c.461-18C= (n.461-18C=)
c.395-18C= (n.395-18C=)
5g.42699806C>TCA1542293892GHRc.440-18C>T (n.440-18C>T)
c.374-18C>T (n.374-18C>T)
c.*52-18C>T (n.*52-18C>T)
c.461-18C>T (n.461-18C>T)
c.395-18C>T (n.395-18C>T)
 dbSNP
5g.42699807T>CCA2673723840GHRc.440-17T>C (n.440-17T>C)
c.374-17T>C (n.374-17T>C)
c.*52-17T>C (n.*52-17T>C)
c.461-17T>C (n.461-17T>C)
c.395-17T>C (n.395-17T>C)
 gnomAD v4
5g.42699808C>ACA2673723841GHRc.440-16C>A (n.440-16C>A)
c.374-16C>A (n.374-16C>A)
c.*52-16C>A (n.*52-16C>A)
c.461-16C>A (n.461-16C>A)
c.395-16C>A (n.395-16C>A)
 gnomAD v4
5g.42699809T>CCA2673723842GHRc.440-15T>C (n.440-15T>C)
c.374-15T>C (n.374-15T>C)
c.*52-15T>C (n.*52-15T>C)
c.461-15T>C (n.461-15T>C)
c.395-15T>C (n.395-15T>C)
 gnomAD v4
5g.42699811T>ACA2673723843GHRc.440-13T>A (n.440-13T>A)
c.374-13T>A (n.374-13T>A)
c.*52-13T>A (n.*52-13T>A)
c.461-13T>A (n.461-13T>A)
c.395-13T>A (n.395-13T>A)
 ClinVar gnomAD v4
5g.42699811T>CCA1075504492GHRc.440-13T>C (n.440-13T>C)
c.374-13T>C (n.374-13T>C)
c.*52-13T>C (n.*52-13T>C)
c.461-13T>C (n.461-13T>C)
c.395-13T>C (n.395-13T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.42699811T=CA1542293895GHRc.440-13T= (n.440-13T=)
c.374-13T= (n.374-13T=)
c.*52-13T= (n.*52-13T=)
c.461-13T= (n.461-13T=)
c.395-13T= (n.395-13T=)
5g.42699813G>CCA2766052430GHRc.440-11G>C (n.440-11G>C)
c.374-11G>C (n.374-11G>C)
c.*52-11G>C (n.*52-11G>C)
c.461-11G>C (n.461-11G>C)
c.395-11G>C (n.395-11G>C)
5g.42699814A>GCA2673723844GHRc.440-10A>G (n.440-10A>G)
c.374-10A>G (n.374-10A>G)
c.*52-10A>G (n.*52-10A>G)
c.461-10A>G (n.461-10A>G)
c.395-10A>G (n.395-10A>G)
 gnomAD v4
5g.42699816T>CCA559293423GHRc.440-8T>C (n.440-8T>C)
c.374-8T>C (n.374-8T>C)
c.*52-8T>C (n.*52-8T>C)
c.461-8T>C (n.461-8T>C)
c.395-8T>C (n.395-8T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.42699816T=CA1542293899GHRc.440-8T= (n.440-8T=)
c.374-8T= (n.374-8T=)
c.*52-8T= (n.*52-8T=)
c.461-8T= (n.461-8T=)
c.395-8T= (n.395-8T=)
5g.42699817T>CCA3254411GHRc.440-7T>C (n.440-7T>C)
c.374-7T>C (n.374-7T>C)
c.*52-7T>C (n.*52-7T>C)
c.461-7T>C (n.461-7T>C)
c.395-7T>C (n.395-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699817T>GCA2673723845GHRc.440-7T>G (n.440-7T>G)
c.374-7T>G (n.374-7T>G)
c.*52-7T>G (n.*52-7T>G)
c.461-7T>G (n.461-7T>G)
c.395-7T>G (n.395-7T>G)
 gnomAD v4
5g.42699817T=CA1542293902GHRc.440-7T= (n.440-7T=)
c.374-7T= (n.374-7T=)
c.*52-7T= (n.*52-7T=)
c.461-7T= (n.461-7T=)
c.395-7T= (n.395-7T=)
5g.42699818G>ACA2578302111GHRc.440-6G>A (n.440-6G>A)
c.374-6G>A (n.374-6G>A)
c.*52-6G>A (n.*52-6G>A)
c.461-6G>A (n.461-6G>A)
c.395-6G>A (n.395-6G>A)
 gnomAD v4
5g.42699818G>TCA2519454102GHRc.440-6G>T (n.440-6G>T)
c.374-6G>T (n.374-6G>T)
c.*52-6G>T (n.*52-6G>T)
c.461-6G>T (n.461-6G>T)
c.395-6G>T (n.395-6G>T)
5g.42699819C>ACA2673723846GHRc.440-5C>A (n.440-5C>A)
c.374-5C>A (n.374-5C>A)
c.*52-5C>A (n.*52-5C>A)
c.461-5C>A (n.461-5C>A)
c.395-5C>A (n.395-5C>A)
 gnomAD v4
5g.42699819C>TCA2697547151GHRc.440-5C>T (n.440-5C>T)
c.374-5C>T (n.374-5C>T)
c.*52-5C>T (n.*52-5C>T)
c.461-5C>T (n.461-5C>T)
c.395-5C>T (n.395-5C>T)
 ClinVar
5g.42699820A>GCA2673723847GHRc.440-4A>G (n.440-4A>G)
c.374-4A>G (n.374-4A>G)
c.*52-4A>G (n.*52-4A>G)
c.461-4A>G (n.461-4A>G)
c.395-4A>G (n.395-4A>G)
 ClinVar gnomAD v4
5g.42699821C>ACA2673723848GHRc.440-3C>A (n.440-3C>A)
c.374-3C>A (n.374-3C>A)
c.*52-3C>A (n.*52-3C>A)
c.461-3C>A (n.461-3C>A)
c.395-3C>A (n.395-3C>A)
 gnomAD v4
5g.42699821C>TCA2673723849GHRc.440-3C>T (n.440-3C>T)
c.374-3C>T (n.374-3C>T)
c.*52-3C>T (n.*52-3C>T)
c.461-3C>T (n.461-3C>T)
c.395-3C>T (n.395-3C>T)
 gnomAD v4
5g.42699822A>CCA359695377GHRc.440-2A>C (n.440-2A>C)
c.374-2A>C (n.374-2A>C)
c.*52-2A>C (n.*52-2A>C)
c.461-2A>C (n.461-2A>C)
c.395-2A>C (n.395-2A>C)
 gnomAD v4
5g.42699822A>GCA359695379GHRc.440-2A>G (n.440-2A>G)
c.374-2A>G (n.374-2A>G)
c.*52-2A>G (n.*52-2A>G)
c.461-2A>G (n.461-2A>G)
c.395-2A>G (n.395-2A>G)
5g.42699822A>TCA359695378GHRc.440-2A>T (n.440-2A>T)
c.374-2A>T (n.374-2A>T)
c.*52-2A>T (n.*52-2A>T)
c.461-2A>T (n.461-2A>T)
c.395-2A>T (n.395-2A>T)
5g.42699823G>ACA3254412GHRc.440-1G>A (n.440-1G>A)
c.374-1G>A (n.374-1G>A)
c.*52-1G>A (n.*52-1G>A)
c.461-1G>A (n.461-1G>A)
c.395-1G>A (n.395-1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699823G>CCA359695380GHRc.440-1G>C (n.440-1G>C)
c.374-1G>C (n.374-1G>C)
c.*52-1G>C (n.*52-1G>C)
c.461-1G>C (n.461-1G>C)
c.395-1G>C (n.395-1G>C)
5g.42699823G=CA1542293910GHRc.440-1G= (n.440-1G=)
c.374-1G= (n.374-1G=)
c.*52-1G= (n.*52-1G=)
c.461-1G= (n.461-1G=)
c.395-1G= (n.395-1G=)
5g.42699823G>TCA359695381GHRc.440-1G>T (n.440-1G>T)
c.374-1G>T (n.374-1G>T)
c.*52-1G>T (n.*52-1G>T)
c.461-1G>T (n.461-1G>T)
c.395-1G>T (n.395-1G>T)
5g.42699824T>ACA359695382GHRc.440T>A (p.Val147Glu)
c.374T>A (p.Val125Glu)
c.*52T>A (n.*52T>A)
c.461T>A (p.Val154Glu)
c.395T>A (p.Val132Glu)
5g.42699824T>CCA359695383GHRc.440T>C (p.Val147Ala)
c.374T>C (p.Val125Ala)
c.*52T>C (n.*52T>C)
c.461T>C (p.Val154Ala)
c.395T>C (p.Val132Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.42699824T>GCA359695384GHRc.440T>G (p.Val147Gly)
c.374T>G (p.Val125Gly)
c.*52T>G (n.*52T>G)
c.461T>G (p.Val154Gly)
c.395T>G (p.Val132Gly)
5g.42699824T=CA1542293916GHRc.440T= (p.Val147=)
c.374T= (p.Val125=)
c.*52T= (n.*52T=)
c.461T= (p.Val154=)
c.395T= (p.Val132=)
5g.42699825G>ACA443841689GHRc.441G>A (p.Val147=)
c.375G>A (p.Val125=)
c.*53G>A (n.*53G>A)
c.462G>A (p.Val154=)
c.396G>A (p.Val132=)
 ClinVar gnomAD v4
5g.42699825G>CCA443841690GHRc.441G>C (p.Val147=)
c.375G>C (p.Val125=)
c.*53G>C (n.*53G>C)
c.462G>C (p.Val154=)
c.396G>C (p.Val132=)
5g.42699825G>TCA443841691GHRc.441G>T (p.Val147=)
c.375G>T (p.Val125=)
c.*53G>T (n.*53G>T)
c.462G>T (p.Val154=)
c.396G>T (p.Val132=)
 gnomAD v4
5g.42699826C>ACA359695385GHRc.442C>A (p.Gln148Lys)
c.376C>A (p.Gln126Lys)
c.*54C>A (n.*54C>A)
c.463C>A (p.Gln155Lys)
c.397C>A (p.Gln133Lys)
 gnomAD v4 COSMIC
5g.42699826C>GCA359695386GHRc.442C>G (p.Gln148Glu)
c.376C>G (p.Gln126Glu)
c.*54C>G (n.*54C>G)
c.463C>G (p.Gln155Glu)
c.397C>G (p.Gln133Glu)
5g.42699826C>TCA359695387GHRc.442C>T (p.Gln148Ter)
c.376C>T (p.Gln126Ter)
c.*54C>T (n.*54C>T)
c.463C>T (p.Gln155Ter)
c.397C>T (p.Gln133Ter)
 gnomAD v4
5g.42699827A=CA1542293919GHRc.443A= (p.Gln148=)
c.377A= (p.Gln126=)
c.*55A= (n.*55A=)
c.464A= (p.Gln155=)
c.398A= (p.Gln133=)
5g.42699827A>CCA359695388GHRc.443A>C (p.Gln148Pro)
c.377A>C (p.Gln126Pro)
c.*55A>C (n.*55A>C)
c.464A>C (p.Gln155Pro)
c.398A>C (p.Gln133Pro)
5g.42699827A>GCA359695389GHRc.443A>G (p.Gln148Arg)
c.377A>G (p.Gln126Arg)
c.*55A>G (n.*55A>G)
c.464A>G (p.Gln155Arg)
c.398A>G (p.Gln133Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.42699827A>TCA359695390GHRc.443A>T (p.Gln148Leu)
c.377A>T (p.Gln126Leu)
c.*55A>T (n.*55A>T)
c.464A>T (p.Gln155Leu)
c.398A>T (p.Gln133Leu)
5g.42699828A=CA1542293923GHRc.444A= (p.Gln148=)
c.378A= (p.Gln126=)
c.*56A= (n.*56A=)
c.465A= (p.Gln155=)
c.399A= (p.Gln133=)
5g.42699828A>CCA359695392GHRc.444A>C (p.Gln148His)
c.378A>C (p.Gln126His)
c.*56A>C (n.*56A>C)
c.465A>C (p.Gln155His)
c.399A>C (p.Gln133His)
5g.42699828A>GCA443841694GHRc.444A>G (p.Gln148=)
c.378A>G (p.Gln126=)
c.*56A>G (n.*56A>G)
c.465A>G (p.Gln155=)
c.399A>G (p.Gln133=)
 dbSNP gnomAD v3 gnomAD v4
5g.42699828A>TCA359695391GHRc.444A>T (p.Gln148His)
c.378A>T (p.Gln126His)
c.*56A>T (n.*56A>T)
c.465A>T (p.Gln155His)
c.399A>T (p.Gln133His)
5g.42699829C>ACA359695393GHRc.445C>A (p.Pro149Thr)
c.379C>A (p.Pro127Thr)
c.*57C>A (n.*57C>A)
c.466C>A (p.Pro156Thr)
c.400C>A (p.Pro134Thr)
 gnomAD v4
5g.42699829C=CA1542293927GHRc.445C= (p.Pro149=)
c.379C= (p.Pro127=)
c.*57C= (n.*57C=)
c.466C= (p.Pro156=)
c.400C= (p.Pro134=)
5g.42699829C>GCA359695394GHRc.445C>G (p.Pro149Ala)
c.379C>G (p.Pro127Ala)
c.*57C>G (n.*57C>G)
c.466C>G (p.Pro156Ala)
c.400C>G (p.Pro134Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42699829C>TCA118048237GHRc.445C>T (p.Pro149Ser)
c.379C>T (p.Pro127Ser)
c.*57C>T (n.*57C>T)
c.466C>T (p.Pro156Ser)
c.400C>T (p.Pro134Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42699830C>ACA119808GHRc.446C>A (p.Pro149Gln)
c.380C>A (p.Pro127Gln)
c.*58C>A (n.*58C>A)
c.467C>A (p.Pro156Gln)
c.401C>A (p.Pro134Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.42699830C=CA1542293935GHRc.446C= (p.Pro149=)
c.380C= (p.Pro127=)
c.*58C= (n.*58C=)
c.467C= (p.Pro156=)
c.401C= (p.Pro134=)
5g.42699830C>GCA359695395GHRc.446C>G (p.Pro149Arg)
c.380C>G (p.Pro127Arg)
c.*58C>G (n.*58C>G)
c.467C>G (p.Pro156Arg)
c.401C>G (p.Pro134Arg)
5g.42699830C>TCA359695396GHRc.446C>T (p.Pro149Leu)
c.380C>T (p.Pro127Leu)
c.*58C>T (n.*58C>T)
c.467C>T (p.Pro156Leu)
c.401C>T (p.Pro134Leu)
5g.42699831A=CA1542293965GHRc.447A= (p.Pro149=)
c.381A= (p.Pro127=)
c.*59A= (n.*59A=)
c.468A= (p.Pro156=)
c.402A= (p.Pro134=)
5g.42699831A>CCA443841700GHRc.447A>C (p.Pro149=)
c.381A>C (p.Pro127=)
c.*59A>C (n.*59A>C)
c.468A>C (p.Pro156=)
c.402A>C (p.Pro134=)
5g.42699831A>GCA3254413GHRc.447A>G (p.Pro149=)
c.381A>G (p.Pro127=)
c.*59A>G (n.*59A>G)
c.468A>G (p.Pro156=)
c.402A>G (p.Pro134=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.42699831A>TCA443841703GHRc.447A>T (p.Pro149=)
c.381A>T (p.Pro127=)
c.*59A>T (n.*59A>T)
c.468A>T (p.Pro156=)
c.402A>T (p.Pro134=)
5g.42699832G>ACA359695397GHRc.448G>A (p.Asp150Asn)
c.382G>A (p.Asp128Asn)
c.*60G>A (n.*60G>A)
c.469G>A (p.Asp157Asn)
c.403G>A (p.Asp135Asn)
 gnomAD v4
5g.42699832G>CCA359695398GHRc.448G>C (p.Asp150His)
c.382G>C (p.Asp128His)
c.*60G>C (n.*60G>C)
c.469G>C (p.Asp157His)
c.403G>C (p.Asp135His)
5g.42699832G>TCA359695399GHRc.448G>T (p.Asp150Tyr)
c.382G>T (p.Asp128Tyr)
c.*60G>T (n.*60G>T)
c.469G>T (p.Asp157Tyr)
c.403G>T (p.Asp135Tyr)
5g.42699833A>CCA359695400GHRc.449A>C (p.Asp150Ala)
c.383A>C (p.Asp128Ala)
c.*61A>C (n.*61A>C)
c.470A>C (p.Asp157Ala)
c.404A>C (p.Asp135Ala)
5g.42699833A>GCA359695401GHRc.449A>G (p.Asp150Gly)
c.383A>G (p.Asp128Gly)
c.*61A>G (n.*61A>G)
c.470A>G (p.Asp157Gly)
c.404A>G (p.Asp135Gly)
 gnomAD v4
5g.42699833A>TCA359695402GHRc.449A>T (p.Asp150Val)
c.383A>T (p.Asp128Val)
c.*61A>T (n.*61A>T)
c.470A>T (p.Asp157Val)
c.404A>T (p.Asp135Val)
 gnomAD v4
5g.42699834T>ACA359695403GHRc.450T>A (p.Asp150Glu)
c.384T>A (p.Asp128Glu)
c.*62T>A (n.*62T>A)
c.471T>A (p.Asp157Glu)
c.405T>A (p.Asp135Glu)
 dbSNP
5g.42699834T>CCA443841713GHRc.450T>C (p.Asp150=)
c.384T>C (p.Asp128=)
c.*62T>C (n.*62T>C)
c.471T>C (p.Asp157=)
c.405T>C (p.Asp135=)
5g.42699834T>GCA359695404GHRc.450T>G (p.Asp150Glu)
c.384T>G (p.Asp128Glu)
c.*62T>G (n.*62T>G)
c.471T>G (p.Asp157Glu)
c.405T>G (p.Asp135Glu)
5g.42699834T=CA1542293970GHRc.450T= (p.Asp150=)
c.384T= (p.Asp128=)
c.*62T= (n.*62T=)
c.471T= (p.Asp157=)
c.405T= (p.Asp135=)
5g.42699835C>ACA359695405GHRc.451C>A (p.Pro151Thr)
c.385C>A (p.Pro129Thr)
c.*63C>A (n.*63C>A)
c.472C>A (p.Pro158Thr)
c.406C>A (p.Pro136Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.42699835C=CA1542293974GHRc.451C= (p.Pro151=)
c.385C= (p.Pro129=)
c.*63C= (n.*63C=)
c.472C= (p.Pro158=)
c.406C= (p.Pro136=)
5g.42699835C>GCA359695406GHRc.451C>G (p.Pro151Ala)
c.385C>G (p.Pro129Ala)
c.*63C>G (n.*63C>G)
c.472C>G (p.Pro158Ala)
c.406C>G (p.Pro136Ala)
5g.42699835C>TCA3254414GHRc.451C>T (p.Pro151Ser)
c.385C>T (p.Pro129Ser)
c.*63C>T (n.*63C>T)
c.472C>T (p.Pro158Ser)
c.406C>T (p.Pro136Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699836C>ACA359695407GHRc.452C>A (p.Pro151Gln)
c.386C>A (p.Pro129Gln)
c.*64C>A (n.*64C>A)
c.473C>A (p.Pro158Gln)
c.407C>A (p.Pro136Gln)
 gnomAD v4
5g.42699836C>GCA359695409GHRc.452C>G (p.Pro151Arg)
c.386C>G (p.Pro129Arg)
c.*64C>G (n.*64C>G)
c.473C>G (p.Pro158Arg)
c.407C>G (p.Pro136Arg)
5g.42699836C>TCA359695408GHRc.452C>T (p.Pro151Leu)
c.386C>T (p.Pro129Leu)
c.*64C>T (n.*64C>T)
c.473C>T (p.Pro158Leu)
c.407C>T (p.Pro136Leu)
 gnomAD v4
5g.42699837A>CCA443841728GHRc.453A>C (p.Pro151=)
c.387A>C (p.Pro129=)
c.*65A>C (n.*65A>C)
c.474A>C (p.Pro158=)
c.408A>C (p.Pro136=)
5g.42699837A>GCA443841733GHRc.453A>G (p.Pro151=)
c.387A>G (p.Pro129=)
c.*65A>G (n.*65A>G)
c.474A>G (p.Pro158=)
c.408A>G (p.Pro136=)
 gnomAD v4
5g.42699837A>TCA443841730GHRc.453A>T (p.Pro151=)
c.387A>T (p.Pro129=)
c.*65A>T (n.*65A>T)
c.474A>T (p.Pro158=)
c.408A>T (p.Pro136=)
5g.42699838C>ACA359695410GHRc.454C>A (p.Pro152Thr)
c.388C>A (p.Pro130Thr)
c.*66C>A (n.*66C>A)
c.475C>A (p.Pro159Thr)
c.409C>A (p.Pro137Thr)
5g.42699838C=CA1542293977GHRc.454C= (p.Pro152=)
c.388C= (p.Pro130=)
c.*66C= (n.*66C=)
c.475C= (p.Pro159=)
c.409C= (p.Pro137=)
5g.42699838C>GCA359695411GHRc.454C>G (p.Pro152Ala)
c.388C>G (p.Pro130Ala)
c.*66C>G (n.*66C>G)
c.475C>G (p.Pro159Ala)
c.409C>G (p.Pro137Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.42699838C>TCA359695412GHRc.454C>T (p.Pro152Ser)
c.388C>T (p.Pro130Ser)
c.*66C>T (n.*66C>T)
c.475C>T (p.Pro159Ser)
c.409C>T (p.Pro137Ser)
5g.42699839C>ACA359695413GHRc.455C>A (p.Pro152His)
c.389C>A (p.Pro130His)
c.*67C>A (n.*67C>A)
c.476C>A (p.Pro159His)
c.410C>A (p.Pro137His)
5g.42699839C>GCA359695414GHRc.455C>G (p.Pro152Arg)
c.389C>G (p.Pro130Arg)
c.*67C>G (n.*67C>G)
c.476C>G (p.Pro159Arg)
c.410C>G (p.Pro137Arg)
5g.42699839C>TCA359695415GHRc.455C>T (p.Pro152Leu)
c.389C>T (p.Pro130Leu)
c.*67C>T (n.*67C>T)
c.476C>T (p.Pro159Leu)
c.410C>T (p.Pro137Leu)
5g.42699840C>ACA443841743GHRc.456C>A (p.Pro152=)
c.390C>A (p.Pro130=)
c.*68C>A (n.*68C>A)
c.477C>A (p.Pro159=)
c.411C>A (p.Pro137=)
 gnomAD v4
5g.42699840C>GCA443841745GHRc.456C>G (p.Pro152=)
c.390C>G (p.Pro130=)
c.*68C>G (n.*68C>G)
c.477C>G (p.Pro159=)
c.411C>G (p.Pro137=)
5g.42699840C>TCA443841747GHRc.456C>T (p.Pro152=)
c.390C>T (p.Pro130=)
c.*68C>T (n.*68C>T)
c.477C>T (p.Pro159=)
c.411C>T (p.Pro137=)
5g.42699841A=CA1542293979GHRc.457A= (p.Ile153=)
c.391A= (p.Ile131=)
c.*69A= (n.*69A=)
c.478A= (p.Ile160=)
c.412A= (p.Ile138=)
5g.42699841A>CCA359695416GHRc.457A>C (p.Ile153Leu)
c.391A>C (p.Ile131Leu)
c.*69A>C (n.*69A>C)
c.478A>C (p.Ile160Leu)
c.412A>C (p.Ile138Leu)
5g.42699841A>GCA359695417GHRc.457A>G (p.Ile153Val)
c.391A>G (p.Ile131Val)
c.*69A>G (n.*69A>G)
c.478A>G (p.Ile160Val)
c.412A>G (p.Ile138Val)
 dbSNP gnomAD v4
5g.42699841A>TCA359695418GHRc.457A>T (p.Ile153Phe)
c.391A>T (p.Ile131Phe)
c.*69A>T (n.*69A>T)
c.478A>T (p.Ile160Phe)
c.412A>T (p.Ile138Phe)
5g.42699842T>ACA359695419GHRc.458T>A (p.Ile153Asn)
c.392T>A (p.Ile131Asn)
c.*70T>A (n.*70T>A)
c.479T>A (p.Ile160Asn)
c.413T>A (p.Ile138Asn)
5g.42699842T>CCA3254415GHRc.458T>C (p.Ile153Thr)
c.392T>C (p.Ile131Thr)
c.*70T>C (n.*70T>C)
c.479T>C (p.Ile160Thr)
c.413T>C (p.Ile138Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699842T>GCA359695420GHRc.458T>G (p.Ile153Ser)
c.392T>G (p.Ile131Ser)
c.*70T>G (n.*70T>G)
c.479T>G (p.Ile160Ser)
c.413T>G (p.Ile138Ser)
5g.42699842T=CA1542293984GHRc.458T= (p.Ile153=)
c.392T= (p.Ile131=)
c.*70T= (n.*70T=)
c.479T= (p.Ile160=)
c.413T= (p.Ile138=)
5g.42699843T>ACA443841753GHRc.459T>A (p.Ile153=)
c.393T>A (p.Ile131=)
c.*71T>A (n.*71T>A)
c.480T>A (p.Ile160=)
c.414T>A (p.Ile138=)
5g.42699843T>CCA443841754GHRc.459T>C (p.Ile153=)
c.393T>C (p.Ile131=)
c.*71T>C (n.*71T>C)
c.480T>C (p.Ile160=)
c.414T>C (p.Ile138=)
5g.42699843T>GCA359695421GHRc.459T>G (p.Ile153Met)
c.393T>G (p.Ile131Met)
c.*71T>G (n.*71T>G)
c.480T>G (p.Ile160Met)
c.414T>G (p.Ile138Met)
5g.42699844G>ACA359695422GHRc.460G>A (p.Ala154Thr)
c.394G>A (p.Ala132Thr)
c.*72G>A (n.*72G>A)
c.481G>A (p.Ala161Thr)
c.415G>A (p.Ala139Thr)
 gnomAD v4
5g.42699844G>CCA359695424GHRc.460G>C (p.Ala154Pro)
c.394G>C (p.Ala132Pro)
c.*72G>C (n.*72G>C)
c.481G>C (p.Ala161Pro)
c.415G>C (p.Ala139Pro)
5g.42699844G=CA1542293987GHRc.460G= (p.Ala154=)
c.394G= (p.Ala132=)
c.*72G= (n.*72G=)
c.481G= (p.Ala161=)
c.415G= (p.Ala139=)
5g.42699844G>TCA359695423GHRc.460G>T (p.Ala154Ser)
c.394G>T (p.Ala132Ser)
c.*72G>T (n.*72G>T)
c.481G>T (p.Ala161Ser)
c.415G>T (p.Ala139Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.42699845C>ACA359695425GHRc.461C>A (p.Ala154Asp)
c.395C>A (p.Ala132Asp)
c.*73C>A (n.*73C>A)
c.482C>A (p.Ala161Asp)
c.416C>A (p.Ala139Asp)
5g.42699845C>GCA359695426GHRc.461C>G (p.Ala154Gly)
c.395C>G (p.Ala132Gly)
c.*73C>G (n.*73C>G)
c.482C>G (p.Ala161Gly)
c.416C>G (p.Ala139Gly)
 gnomAD v4
5g.42699845C>TCA359695427GHRc.461C>T (p.Ala154Val)
c.395C>T (p.Ala132Val)
c.*73C>T (n.*73C>T)
c.482C>T (p.Ala161Val)
c.416C>T (p.Ala139Val)
5g.42699846C>ACA443841765GHRc.462C>A (p.Ala154=)
c.396C>A (p.Ala132=)
c.*74C>A (n.*74C>A)
c.483C>A (p.Ala161=)
c.417C>A (p.Ala139=)
 gnomAD v4
5g.42699846C>GCA443841767GHRc.462C>G (p.Ala154=)
c.396C>G (p.Ala132=)
c.*74C>G (n.*74C>G)
c.483C>G (p.Ala161=)
c.417C>G (p.Ala139=)
5g.42699846C>TCA443841770GHRc.462C>T (p.Ala154=)
c.396C>T (p.Ala132=)
c.*74C>T (n.*74C>T)
c.483C>T (p.Ala161=)
c.417C>T (p.Ala139=)
5g.42699847C>ACA359695428GHRc.463C>A (p.Leu155Ile)
c.397C>A (p.Leu133Ile)
c.*75C>A (n.*75C>A)
c.484C>A (p.Leu162Ile)
c.418C>A (p.Leu140Ile)
5g.42699847C>GCA359695429GHRc.463C>G (p.Leu155Val)
c.397C>G (p.Leu133Val)
c.*75C>G (n.*75C>G)
c.484C>G (p.Leu162Val)
c.418C>G (p.Leu140Val)
5g.42699847C>TCA359695430GHRc.463C>T (p.Leu155Phe)
c.397C>T (p.Leu133Phe)
c.*75C>T (n.*75C>T)
c.484C>T (p.Leu162Phe)
c.418C>T (p.Leu140Phe)
5g.42699848T>ACA359695431GHRc.464T>A (p.Leu155His)
c.398T>A (p.Leu133His)
c.*76T>A (n.*76T>A)
c.485T>A (p.Leu162His)
c.419T>A (p.Leu140His)
 gnomAD v4
5g.42699848T>CCA359695432GHRc.464T>C (p.Leu155Pro)
c.398T>C (p.Leu133Pro)
c.*76T>C (n.*76T>C)
c.485T>C (p.Leu162Pro)
c.419T>C (p.Leu140Pro)
5g.42699848T>GCA359695433GHRc.464T>G (p.Leu155Arg)
c.398T>G (p.Leu133Arg)
c.*76T>G (n.*76T>G)
c.485T>G (p.Leu162Arg)
c.419T>G (p.Leu140Arg)
5g.42699849C>ACA443841782GHRc.465C>A (p.Leu155=)
c.399C>A (p.Leu133=)
c.*77C>A (n.*77C>A)
c.486C>A (p.Leu162=)
c.420C>A (p.Leu140=)
5g.42699849C>GCA443841784GHRc.465C>G (p.Leu155=)
c.399C>G (p.Leu133=)
c.*77C>G (n.*77C>G)
c.486C>G (p.Leu162=)
c.420C>G (p.Leu140=)
5g.42699849C>TCA443841786GHRc.465C>T (p.Leu155=)
c.399C>T (p.Leu133=)
c.*77C>T (n.*77C>T)
c.486C>T (p.Leu162=)
c.420C>T (p.Leu140=)
5g.42699850A>CCA359695436GHRc.466A>C (p.Asn156His)
c.400A>C (p.Asn134His)
c.*78A>C (n.*78A>C)
c.487A>C (p.Asn163His)
c.421A>C (p.Asn141His)
5g.42699850A>GCA359695435GHRc.466A>G (p.Asn156Asp)
c.400A>G (p.Asn134Asp)
c.*78A>G (n.*78A>G)
c.487A>G (p.Asn163Asp)
c.421A>G (p.Asn141Asp)
5g.42699850A>TCA359695434GHRc.466A>T (p.Asn156Tyr)
c.400A>T (p.Asn134Tyr)
c.*78A>T (n.*78A>T)
c.487A>T (p.Asn163Tyr)
c.421A>T (p.Asn141Tyr)
5g.42699851A=CA1542293991GHRc.467A= (p.Asn156=)
c.401A= (p.Asn134=)
c.*79A= (n.*79A=)
c.488A= (p.Asn163=)
c.422A= (p.Asn141=)
5g.42699851A>CCA359695437GHRc.467A>C (p.Asn156Thr)
c.401A>C (p.Asn134Thr)
c.*79A>C (n.*79A>C)
c.488A>C (p.Asn163Thr)
c.422A>C (p.Asn141Thr)
5g.42699851A>GCA118048238GHRc.467A>G (p.Asn156Ser)
c.401A>G (p.Asn134Ser)
c.*79A>G (n.*79A>G)
c.488A>G (p.Asn163Ser)
c.422A>G (p.Asn141Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.42699851A>TCA359695438GHRc.467A>T (p.Asn156Ile)
c.401A>T (p.Asn134Ile)
c.*79A>T (n.*79A>T)
c.488A>T (p.Asn163Ile)
c.422A>T (p.Asn141Ile)
5g.42699852C>ACA359695439GHRc.468C>A (p.Asn156Lys)
c.402C>A (p.Asn134Lys)
c.*80C>A (n.*80C>A)
c.489C>A (p.Asn163Lys)
c.423C>A (p.Asn141Lys)
5g.42699852C>GCA359695440GHRc.468C>G (p.Asn156Lys)
c.402C>G (p.Asn134Lys)
c.*80C>G (n.*80C>G)
c.489C>G (p.Asn163Lys)
c.423C>G (p.Asn141Lys)
5g.42699852C>TCA443841799GHRc.468C>T (p.Asn156=)
c.402C>T (p.Asn134=)
c.*80C>T (n.*80C>T)
c.489C>T (p.Asn163=)
c.423C>T (p.Asn141=)
5g.42699853T>ACA359695441GHRc.469T>A (p.Trp157Arg)
c.403T>A (p.Trp135Arg)
c.*81T>A (n.*81T>A)
c.490T>A (p.Trp164Arg)
c.424T>A (p.Trp142Arg)
5g.42699853T>CCA359695442GHRc.469T>C (p.Trp157Arg)
c.403T>C (p.Trp135Arg)
c.*81T>C (n.*81T>C)
c.490T>C (p.Trp164Arg)
c.424T>C (p.Trp142Arg)
5g.42699853T>GCA359695443GHRc.469T>G (p.Trp157Gly)
c.403T>G (p.Trp135Gly)
c.*81T>G (n.*81T>G)
c.490T>G (p.Trp164Gly)
c.424T>G (p.Trp142Gly)
5g.42699854G>ACA359695444GHRc.470G>A (p.Trp157Ter)
c.404G>A (p.Trp135Ter)
c.*82G>A (n.*82G>A)
c.491G>A (p.Trp164Ter)
c.425G>A (p.Trp142Ter)
5g.42699854G>CCA359695445GHRc.470G>C (p.Trp157Ser)
c.404G>C (p.Trp135Ser)
c.*82G>C (n.*82G>C)
c.491G>C (p.Trp164Ser)
c.425G>C (p.Trp142Ser)
5g.42699854G>TCA359695446GHRc.470G>T (p.Trp157Leu)
c.404G>T (p.Trp135Leu)
c.*82G>T (n.*82G>T)
c.491G>T (p.Trp164Leu)
c.425G>T (p.Trp142Leu)
5g.42699855G>ACA359695449GHRc.471G>A (p.Trp157Ter)
c.405G>A (p.Trp135Ter)
c.*83G>A (n.*83G>A)
c.492G>A (p.Trp164Ter)
c.426G>A (p.Trp142Ter)
 dbSNP COSMIC
5g.42699855G>CCA359695448GHRc.471G>C (p.Trp157Cys)
c.405G>C (p.Trp135Cys)
c.*83G>C (n.*83G>C)
c.492G>C (p.Trp164Cys)
c.426G>C (p.Trp142Cys)
5g.42699855G=CA1542293995GHRc.471G= (p.Trp157=)
c.405G= (p.Trp135=)
c.*83G= (n.*83G=)
c.492G= (p.Trp164=)
c.426G= (p.Trp142=)
5g.42699855G>TCA359695447GHRc.471G>T (p.Trp157Cys)
c.405G>T (p.Trp135Cys)
c.*83G>T (n.*83G>T)
c.492G>T (p.Trp164Cys)
c.426G>T (p.Trp142Cys)
 gnomAD v4
5g.42699856A=CA1542294001GHRc.472A= (p.Thr158=)
c.406A= (p.Thr136=)
c.*84A= (n.*84A=)
c.493A= (p.Thr165=)
c.427A= (p.Thr143=)
5g.42699856A>CCA359695450GHRc.472A>C (p.Thr158Pro)
c.406A>C (p.Thr136Pro)
c.*84A>C (n.*84A>C)
c.493A>C (p.Thr165Pro)
c.427A>C (p.Thr143Pro)
5g.42699856A>GCA359695451GHRc.472A>G (p.Thr158Ala)
c.406A>G (p.Thr136Ala)
c.*84A>G (n.*84A>G)
c.493A>G (p.Thr165Ala)
c.427A>G (p.Thr143Ala)
5g.42699856A>TCA359695452GHRc.472A>T (p.Thr158Ser)
c.406A>T (p.Thr136Ser)
c.*84A>T (n.*84A>T)
c.493A>T (p.Thr165Ser)
c.427A>T (p.Thr143Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.42699857C>ACA359695453GHRc.473C>A (p.Thr158Asn)
c.407C>A (p.Thr136Asn)
c.*85C>A (n.*85C>A)
c.494C>A (p.Thr165Asn)
c.428C>A (p.Thr143Asn)
 COSMIC
5g.42699857C>GCA359695454GHRc.473C>G (p.Thr158Ser)
c.407C>G (p.Thr136Ser)
c.*85C>G (n.*85C>G)
c.494C>G (p.Thr165Ser)
c.428C>G (p.Thr143Ser)
5g.42699857C>TCA359695455GHRc.473C>T (p.Thr158Ile)
c.407C>T (p.Thr136Ile)
c.*85C>T (n.*85C>T)
c.494C>T (p.Thr165Ile)
c.428C>T (p.Thr143Ile)
5g.42699858T>ACA443841829GHRc.474T>A (p.Thr158=)
c.408T>A (p.Thr136=)
c.*86T>A (n.*86T>A)
c.495T>A (p.Thr165=)
c.429T>A (p.Thr143=)
5g.42699858T>CCA443841832GHRc.474T>C (p.Thr158=)
c.408T>C (p.Thr136=)
c.*86T>C (n.*86T>C)
c.495T>C (p.Thr165=)
c.429T>C (p.Thr143=)
5g.42699858T>GCA443841827GHRc.474T>G (p.Thr158=)
c.408T>G (p.Thr136=)
c.*86T>G (n.*86T>G)
c.495T>G (p.Thr165=)
c.429T>G (p.Thr143=)
 gnomAD v4
5g.42699859T>ACA359695456GHRc.475T>A (p.Leu159Ile)
c.409T>A (p.Leu137Ile)
c.*87T>A (n.*87T>A)
c.496T>A (p.Leu166Ile)
c.430T>A (p.Leu144Ile)
5g.42699859T>CCA443841836GHRc.475T>C (p.Leu159=)
c.409T>C (p.Leu137=)
c.*87T>C (n.*87T>C)
c.496T>C (p.Leu166=)
c.430T>C (p.Leu144=)
 gnomAD v4
5g.42699859T>GCA359695457GHRc.475T>G (p.Leu159Val)
c.409T>G (p.Leu137Val)
c.*87T>G (n.*87T>G)
c.496T>G (p.Leu166Val)
c.430T>G (p.Leu144Val)
5g.42699860T>ACA118048239GHRc.476T>A (p.Leu159Ter)
c.410T>A (p.Leu137Ter)
c.*88T>A (n.*88T>A)
c.497T>A (p.Leu166Ter)
c.431T>A (p.Leu144Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.42699860T>CCA359695458GHRc.476T>C (p.Leu159Ser)
c.410T>C (p.Leu137Ser)
c.*88T>C (n.*88T>C)
c.497T>C (p.Leu166Ser)
c.431T>C (p.Leu144Ser)
5g.42699860T>GCA359695459GHRc.476T>G (p.Leu159Ter)
c.410T>G (p.Leu137Ter)
c.*88T>G (n.*88T>G)
c.497T>G (p.Leu166Ter)
c.431T>G (p.Leu144Ter)
5g.42699860T=CA1542294007GHRc.476T= (p.Leu159=)
c.410T= (p.Leu137=)
c.*88T= (n.*88T=)
c.497T= (p.Leu166=)
c.431T= (p.Leu144=)
5g.42699861A>CCA359695460GHRc.477A>C (p.Leu159Phe)
c.411A>C (p.Leu137Phe)
c.*89A>C (n.*89A>C)
c.498A>C (p.Leu166Phe)
c.432A>C (p.Leu144Phe)
5g.42699861A>GCA443841845GHRc.477A>G (p.Leu159=)
c.411A>G (p.Leu137=)
c.*89A>G (n.*89A>G)
c.498A>G (p.Leu166=)
c.432A>G (p.Leu144=)
5g.42699861A>TCA359695461GHRc.477A>T (p.Leu159Phe)
c.411A>T (p.Leu137Phe)
c.*89A>T (n.*89A>T)
c.498A>T (p.Leu166Phe)
c.432A>T (p.Leu144Phe)
5g.42699862C>ACA359695462GHRc.478C>A (p.Leu160Met)
c.412C>A (p.Leu138Met)
c.*90C>A (n.*90C>A)
c.499C>A (p.Leu167Met)
c.433C>A (p.Leu145Met)
5g.42699862C>GCA359695463GHRc.478C>G (p.Leu160Val)
c.412C>G (p.Leu138Val)
c.*90C>G (n.*90C>G)
c.499C>G (p.Leu167Val)
c.433C>G (p.Leu145Val)
 gnomAD v4
5g.42699862C>TCA443841855GHRc.478C>T (p.Leu160=)
c.412C>T (p.Leu138=)
c.*90C>T (n.*90C>T)
c.499C>T (p.Leu167=)
c.433C>T (p.Leu145=)
5g.42699863T>ACA359695464GHRc.479T>A (p.Leu160Gln)
c.413T>A (p.Leu138Gln)
c.*91T>A (n.*91T>A)
c.500T>A (p.Leu167Gln)
c.434T>A (p.Leu145Gln)
5g.42699863T>CCA359695465GHRc.479T>C (p.Leu160Pro)
c.413T>C (p.Leu138Pro)
c.*91T>C (n.*91T>C)
c.500T>C (p.Leu167Pro)
c.434T>C (p.Leu145Pro)
5g.42699863T>GCA3254416GHRc.479T>G (p.Leu160Arg)
c.413T>G (p.Leu138Arg)
c.*91T>G (n.*91T>G)
c.500T>G (p.Leu167Arg)
c.434T>G (p.Leu145Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42699863T=CA1542294014GHRc.479T= (p.Leu160=)
c.413T= (p.Leu138=)
c.*91T= (n.*91T=)
c.500T= (p.Leu167=)
c.434T= (p.Leu145=)
5g.42699864G>ACA443841865GHRc.480G>A (p.Leu160=)
c.414G>A (p.Leu138=)
c.*92G>A (n.*92G>A)
c.501G>A (p.Leu167=)
c.435G>A (p.Leu145=)
 dbSNP
5g.42699864G>CCA443841869GHRc.480G>C (p.Leu160=)
c.414G>C (p.Leu138=)
c.*92G>C (n.*92G>C)
c.501G>C (p.Leu167=)
c.435G>C (p.Leu145=)
5g.42699864G=CA1542294017GHRc.480G= (p.Leu160=)
c.414G= (p.Leu138=)
c.*92G= (n.*92G=)
c.501G= (p.Leu167=)
c.435G= (p.Leu145=)
5g.42699864G>TCA443841867GHRc.480G>T (p.Leu160=)
c.414G>T (p.Leu138=)
c.*92G>T (n.*92G>T)
c.501G>T (p.Leu167=)
c.435G>T (p.Leu145=)
5g.42699865A>CCA359695466GHRc.481A>C (p.Asn161His)
c.415A>C (p.Asn139His)
c.*93A>C (n.*93A>C)
c.502A>C (p.Asn168His)
c.436A>C (p.Asn146His)
5g.42699865A>GCA359695467GHRc.481A>G (p.Asn161Asp)
c.415A>G (p.Asn139Asp)
c.*93A>G (n.*93A>G)
c.502A>G (p.Asn168Asp)
c.436A>G (p.Asn146Asp)
5g.42699865A>TCA359695468GHRc.481A>T (p.Asn161Tyr)
c.415A>T (p.Asn139Tyr)
c.*93A>T (n.*93A>T)
c.502A>T (p.Asn168Tyr)
c.436A>T (p.Asn146Tyr)
5g.42699866A>CCA359695469GHRc.482A>C (p.Asn161Thr)
c.416A>C (p.Asn139Thr)
c.*94A>C (n.*94A>C)
c.503A>C (p.Asn168Thr)
c.437A>C (p.Asn146Thr)
5g.42699866A>GCA359695470GHRc.482A>G (p.Asn161Ser)
c.416A>G (p.Asn139Ser)
c.*94A>G (n.*94A>G)
c.503A>G (p.Asn168Ser)
c.437A>G (p.Asn146Ser)
5g.42699866A>TCA359695471GHRc.482A>T (p.Asn161Ile)
c.416A>T (p.Asn139Ile)
c.*94A>T (n.*94A>T)
c.503A>T (p.Asn168Ile)
c.437A>T (p.Asn146Ile)
5g.42699867C>ACA359695472GHRc.483C>A (p.Asn161Lys)
c.417C>A (p.Asn139Lys)
c.*95C>A (n.*95C>A)
c.504C>A (p.Asn168Lys)
c.438C>A (p.Asn146Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.42699867C=CA1542294021GHRc.483C= (p.Asn161=)
c.417C= (p.Asn139=)
c.*95C= (n.*95C=)
c.504C= (p.Asn168=)
c.438C= (p.Asn146=)
5g.42699867C>GCA359695473GHRc.483C>G (p.Asn161Lys)
c.417C>G (p.Asn139Lys)
c.*95C>G (n.*95C>G)
c.504C>G (p.Asn168Lys)
c.438C>G (p.Asn146Lys)
5g.42699867C>TCA3254417GHRc.483C>T (p.Asn161=)
c.417C>T (p.Asn139=)
c.*95C>T (n.*95C>T)
c.504C>T (p.Asn168=)
c.438C>T (p.Asn146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699868G>ACA119809GHRc.484G>A (p.Val162Ile)
c.418G>A (p.Val140Ile)
c.*96G>A (n.*96G>A)
c.505G>A (p.Val169Ile)
c.439G>A (p.Val147Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699868G>CCA359695474GHRc.484G>C (p.Val162Leu)
c.418G>C (p.Val140Leu)
c.*96G>C (n.*96G>C)
c.505G>C (p.Val169Leu)
c.439G>C (p.Val147Leu)
5g.42699868G=CA1542294024GHRc.484G= (p.Val162=)
c.418G= (p.Val140=)
c.*96G= (n.*96G=)
c.505G= (p.Val169=)
c.439G= (p.Val147=)
5g.42699868G>TCA3254418GHRc.484G>T (p.Val162Phe)
c.418G>T (p.Val140Phe)
c.*96G>T (n.*96G>T)
c.505G>T (p.Val169Phe)
c.439G>T (p.Val147Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699869T>ACA359695477GHRc.485T>A (p.Val162Asp)
c.419T>A (p.Val140Asp)
c.*97T>A (n.*97T>A)
c.506T>A (p.Val169Asp)
c.440T>A (p.Val147Asp)
5g.42699869T>CCA359695475GHRc.485T>C (p.Val162Ala)
c.419T>C (p.Val140Ala)
c.*97T>C (n.*97T>C)
c.506T>C (p.Val169Ala)
c.440T>C (p.Val147Ala)
5g.42699869T>GCA359695476GHRc.485T>G (p.Val162Gly)
c.419T>G (p.Val140Gly)
c.*97T>G (n.*97T>G)
c.506T>G (p.Val169Gly)
c.440T>G (p.Val147Gly)
5g.42699870C>ACA443841900GHRc.486C>A (p.Val162=)
c.420C>A (p.Val140=)
c.*98C>A (n.*98C>A)
c.507C>A (p.Val169=)
c.441C>A (p.Val147=)
5g.42699870C=CA1542294033GHRc.486C= (p.Val162=)
c.420C= (p.Val140=)
c.*98C= (n.*98C=)
c.507C= (p.Val169=)
c.441C= (p.Val147=)
5g.42699870C>GCA443841902GHRc.486C>G (p.Val162=)
c.420C>G (p.Val140=)
c.*98C>G (n.*98C>G)
c.507C>G (p.Val169=)
c.441C>G (p.Val147=)
5g.42699870C>TCA3254419GHRc.486C>T (p.Val162=)
c.420C>T (p.Val140=)
c.*98C>T (n.*98C>T)
c.507C>T (p.Val169=)
c.441C>T (p.Val147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.42699871A>CCA359695478GHRc.487A>C (p.Ser163Arg)
c.421A>C (p.Ser141Arg)
c.*99A>C (n.*99A>C)
c.508A>C (p.Ser170Arg)
c.442A>C (p.Ser148Arg)
5g.42699871A>GCA359695479GHRc.487A>G (p.Ser163Gly)
c.421A>G (p.Ser141Gly)
c.*99A>G (n.*99A>G)
c.508A>G (p.Ser170Gly)
c.442A>G (p.Ser148Gly)
 gnomAD v4
5g.42699871A>TCA359695480GHRc.487A>T (p.Ser163Cys)
c.421A>T (p.Ser141Cys)
c.*99A>T (n.*99A>T)
c.508A>T (p.Ser170Cys)
c.442A>T (p.Ser148Cys)
5g.42699872G>ACA359695481GHRc.488G>A (p.Ser163Asn)
c.422G>A (p.Ser141Asn)
c.*100G>A (n.*100G>A)
c.509G>A (p.Ser170Asn)
c.443G>A (p.Ser148Asn)
5g.42699872G>CCA359695482GHRc.488G>C (p.Ser163Thr)
c.422G>C (p.Ser141Thr)
c.*100G>C (n.*100G>C)
c.509G>C (p.Ser170Thr)
c.443G>C (p.Ser148Thr)
5g.42699872G>TCA359695483GHRc.488G>T (p.Ser163Ile)
c.422G>T (p.Ser141Ile)
c.*100G>T (n.*100G>T)
c.509G>T (p.Ser170Ile)
c.443G>T (p.Ser148Ile)
5g.42699873T>ACA359695484GHRc.489T>A (p.Ser163Arg)
c.423T>A (p.Ser141Arg)
c.*101T>A (n.*101T>A)
c.510T>A (p.Ser170Arg)
c.444T>A (p.Ser148Arg)
 gnomAD v4
5g.42699873T>CCA443841922GHRc.489T>C (p.Ser163=)
c.423T>C (p.Ser141=)
c.*101T>C (n.*101T>C)
c.510T>C (p.Ser170=)
c.444T>C (p.Ser148=)
 COSMIC
5g.42699873T>GCA359695485GHRc.489T>G (p.Ser163Arg)
c.423T>G (p.Ser141Arg)
c.*101T>G (n.*101T>G)
c.510T>G (p.Ser170Arg)
c.444T>G (p.Ser148Arg)
5g.42699874T>ACA359695486GHRc.490T>A (p.Leu164Ile)
c.424T>A (p.Leu142Ile)
c.*102T>A (n.*102T>A)
c.511T>A (p.Leu171Ile)
c.445T>A (p.Leu149Ile)
5g.42699874T>CCA443841930GHRc.490T>C (p.Leu164=)
c.424T>C (p.Leu142=)
c.*102T>C (n.*102T>C)
c.511T>C (p.Leu171=)
c.445T>C (p.Leu149=)
5g.42699874T>GCA359695487GHRc.490T>G (p.Leu164Val)
c.424T>G (p.Leu142Val)
c.*102T>G (n.*102T>G)
c.511T>G (p.Leu171Val)
c.445T>G (p.Leu149Val)
5g.42699875T>ACA359695490GHRc.491T>A (p.Leu164Ter)
c.425T>A (p.Leu142Ter)
c.*103T>A (n.*103T>A)
c.512T>A (p.Leu171Ter)
c.446T>A (p.Leu149Ter)
5g.42699875T>CCA359695489GHRc.491T>C (p.Leu164Ser)
c.425T>C (p.Leu142Ser)
c.*103T>C (n.*103T>C)
c.512T>C (p.Leu171Ser)
c.446T>C (p.Leu149Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.42699875T>GCA359695488GHRc.491T>G (p.Leu164Ter)
c.425T>G (p.Leu142Ter)
c.*103T>G (n.*103T>G)
c.512T>G (p.Leu171Ter)
c.446T>G (p.Leu149Ter)
5g.42699875T=CA1542294038GHRc.491T= (p.Leu164=)
c.425T= (p.Leu142=)
c.*103T= (n.*103T=)
c.512T= (p.Leu171=)
c.446T= (p.Leu149=)
5g.42699876A>CCA359695491GHRc.492A>C (p.Leu164Phe)
c.426A>C (p.Leu142Phe)
c.*104A>C (n.*104A>C)
c.513A>C (p.Leu171Phe)
c.447A>C (p.Leu149Phe)
5g.42699876A>GCA443841941GHRc.492A>G (p.Leu164=)
c.426A>G (p.Leu142=)
c.*104A>G (n.*104A>G)
c.513A>G (p.Leu171=)
c.447A>G (p.Leu149=)
5g.42699876A>TCA359695492GHRc.492A>T (p.Leu164Phe)
c.426A>T (p.Leu142Phe)
c.*104A>T (n.*104A>T)
c.513A>T (p.Leu171Phe)
c.447A>T (p.Leu149Phe)
5g.42699877delCA2766052431GHRc.493del (p.Thr165LeufsTer9)
c.427del (p.Thr143LeufsTer9)
c.*105del (n.*105del)
c.514del (p.Thr172LeufsTer9)
c.448del (p.Thr150LeufsTer9)
5g.42699877A=CA1542294043GHRc.493A= (p.Thr165=)
c.427A= (p.Thr143=)
c.*105A= (n.*105A=)
c.514A= (p.Thr172=)
c.448A= (p.Thr150=)
5g.42699877A>CCA359695493GHRc.493A>C (p.Thr165Pro)
c.427A>C (p.Thr143Pro)
c.*105A>C (n.*105A>C)
c.514A>C (p.Thr172Pro)
c.448A>C (p.Thr150Pro)
5g.42699877A>GCA118048240GHRc.493A>G (p.Thr165Ala)
c.427A>G (p.Thr143Ala)
c.*105A>G (n.*105A>G)
c.514A>G (p.Thr172Ala)
c.448A>G (p.Thr150Ala)
 dbSNP gnomAD v4
5g.42699877A>TCA359695494GHRc.493A>T (p.Thr165Ser)
c.427A>T (p.Thr143Ser)
c.*105A>T (n.*105A>T)
c.514A>T (p.Thr172Ser)
c.448A>T (p.Thr150Ser)
 dbSNP
5g.42699878C>ACA359695495GHRc.494C>A (p.Thr165Asn)
c.428C>A (p.Thr143Asn)
c.*106C>A (n.*106C>A)
c.515C>A (p.Thr172Asn)
c.449C>A (p.Thr150Asn)
5g.42699878C=CA1542294048GHRc.494C= (p.Thr165=)
c.428C= (p.Thr143=)
c.*106C= (n.*106C=)
c.515C= (p.Thr172=)
c.449C= (p.Thr150=)
5g.42699878C>GCA359695496GHRc.494C>G (p.Thr165Ser)
c.428C>G (p.Thr143Ser)
c.*106C>G (n.*106C>G)
c.515C>G (p.Thr172Ser)
c.449C>G (p.Thr150Ser)
 gnomAD v4
5g.42699878C>TCA359695497GHRc.494C>T (p.Thr165Ile)
c.428C>T (p.Thr143Ile)
c.*106C>T (n.*106C>T)
c.515C>T (p.Thr172Ile)
c.449C>T (p.Thr150Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42699879T>ACA443841954GHRc.495T>A (p.Thr165=)
c.429T>A (p.Thr143=)
c.*107T>A (n.*107T>A)
c.516T>A (p.Thr172=)
c.450T>A (p.Thr150=)
5g.42699879T>CCA443841956GHRc.495T>C (p.Thr165=)
c.429T>C (p.Thr143=)
c.*107T>C (n.*107T>C)
c.516T>C (p.Thr172=)
c.450T>C (p.Thr150=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.42699879T>GCA443841955GHRc.495T>G (p.Thr165=)
c.429T>G (p.Thr143=)
c.*107T>G (n.*107T>G)
c.516T>G (p.Thr172=)
c.450T>G (p.Thr150=)
5g.42699879T=CA1542294057GHRc.495T= (p.Thr165=)
c.429T= (p.Thr143=)
c.*107T= (n.*107T=)
c.516T= (p.Thr172=)
c.450T= (p.Thr150=)
5g.42699881_42699889delCA2578302112GHRc.497_505del (p.Gly166_His168del)
c.431_439del (p.Gly144_His146del)
c.*109_*117del (n.*109_*117del)
c.518_526del (p.Gly173_His175del)
c.452_460del (p.Gly151_His153del)
5g.42699880G>ACA359695498GHRc.496G>A (p.Gly166Arg)
c.430G>A (p.Gly144Arg)
c.*108G>A (n.*108G>A)
c.517G>A (p.Gly173Arg)
c.451G>A (p.Gly151Arg)
5g.42699880G>CCA359695499GHRc.496G>C (p.Gly166Arg)
c.430G>C (p.Gly144Arg)
c.*108G>C (n.*108G>C)
c.517G>C (p.Gly173Arg)
c.451G>C (p.Gly151Arg)
5g.42699880G>TCA359695500GHRc.496G>T (p.Gly166Trp)
c.430G>T (p.Gly144Trp)
c.*108G>T (n.*108G>T)
c.517G>T (p.Gly173Trp)
c.451G>T (p.Gly151Trp)
5g.42699881G>ACA3254420GHRc.497G>A (p.Gly166Glu)
c.431G>A (p.Gly144Glu)
c.*109G>A (n.*109G>A)
c.518G>A (p.Gly173Glu)
c.452G>A (p.Gly151Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699881G>CCA359695501GHRc.497G>C (p.Gly166Ala)
c.431G>C (p.Gly144Ala)
c.*109G>C (n.*109G>C)
c.518G>C (p.Gly173Ala)
c.452G>C (p.Gly151Ala)
 gnomAD v4
5g.42699881G=CA1542294067GHRc.497G= (p.Gly166=)
c.431G= (p.Gly144=)
c.*109G= (n.*109G=)
c.518G= (p.Gly173=)
c.452G= (p.Gly151=)
5g.42699881G>TCA359695502GHRc.497G>T (p.Gly166Val)
c.431G>T (p.Gly144Val)
c.*109G>T (n.*109G>T)
c.518G>T (p.Gly173Val)
c.452G>T (p.Gly151Val)
5g.42699882G>ACA118048241GHRc.498G>A (p.Gly166=)
c.432G>A (p.Gly144=)
c.*110G>A (n.*110G>A)
c.519G>A (p.Gly173=)
c.453G>A (p.Gly151=)
 dbSNP
5g.42699882G>CCA443841967GHRc.498G>C (p.Gly166=)
c.432G>C (p.Gly144=)
c.*110G>C (n.*110G>C)
c.519G>C (p.Gly173=)
c.453G>C (p.Gly151=)
5g.42699882G=CA1542294071GHRc.498G= (p.Gly166=)
c.432G= (p.Gly144=)
c.*110G= (n.*110G=)
c.519G= (p.Gly173=)
c.453G= (p.Gly151=)
5g.42699882G>TCA443841970GHRc.498G>T (p.Gly166=)
c.432G>T (p.Gly144=)
c.*110G>T (n.*110G>T)
c.519G>T (p.Gly173=)
c.453G>T (p.Gly151=)
5g.42699883A=CA1542294074GHRc.499A= (p.Ile167=)
c.433A= (p.Ile145=)
c.*111A= (n.*111A=)
c.520A= (p.Ile174=)
c.454A= (p.Ile152=)
5g.42699883A>CCA359695503GHRc.499A>C (p.Ile167Leu)
c.433A>C (p.Ile145Leu)
c.*111A>C (n.*111A>C)
c.520A>C (p.Ile174Leu)
c.454A>C (p.Ile152Leu)
5g.42699883A>GCA3254421GHRc.499A>G (p.Ile167Val)
c.433A>G (p.Ile145Val)
c.*111A>G (n.*111A>G)
c.520A>G (p.Ile174Val)
c.454A>G (p.Ile152Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699883A>TCA359695504GHRc.499A>T (p.Ile167Phe)
c.433A>T (p.Ile145Phe)
c.*111A>T (n.*111A>T)
c.520A>T (p.Ile174Phe)
c.454A>T (p.Ile152Phe)
5g.42699884T>ACA359695505GHRc.500T>A (p.Ile167Asn)
c.434T>A (p.Ile145Asn)
c.*112T>A (n.*112T>A)
c.521T>A (p.Ile174Asn)
c.455T>A (p.Ile152Asn)
5g.42699884T>CCA359695506GHRc.500T>C (p.Ile167Thr)
c.434T>C (p.Ile145Thr)
c.*112T>C (n.*112T>C)
c.521T>C (p.Ile174Thr)
c.455T>C (p.Ile152Thr)
5g.42699884T>GCA359695507GHRc.500T>G (p.Ile167Ser)
c.434T>G (p.Ile145Ser)
c.*112T>G (n.*112T>G)
c.521T>G (p.Ile174Ser)
c.455T>G (p.Ile152Ser)
 gnomAD v4
5g.42699885T>ACA443842001GHRc.501T>A (p.Ile167=)
c.435T>A (p.Ile145=)
c.*113T>A (n.*113T>A)
c.522T>A (p.Ile174=)
c.456T>A (p.Ile152=)
5g.42699885T>CCA443842004GHRc.501T>C (p.Ile167=)
c.435T>C (p.Ile145=)
c.*113T>C (n.*113T>C)
c.522T>C (p.Ile174=)
c.456T>C (p.Ile152=)
5g.42699885T>GCA359695508GHRc.501T>G (p.Ile167Met)
c.435T>G (p.Ile145Met)
c.*113T>G (n.*113T>G)
c.522T>G (p.Ile174Met)
c.456T>G (p.Ile152Met)
5g.42699886C>ACA359695509GHRc.502C>A (p.His168Asn)
c.436C>A (p.His146Asn)
c.*114C>A (n.*114C>A)
c.523C>A (p.His175Asn)
c.457C>A (p.His153Asn)
 gnomAD v4
5g.42699886C=CA1542294079GHRc.502C= (p.His168=)
c.436C= (p.His146=)
c.*114C= (n.*114C=)
c.523C= (p.His175=)
c.457C= (p.His153=)
5g.42699886C>GCA359695510GHRc.502C>G (p.His168Asp)
c.436C>G (p.His146Asp)
c.*114C>G (n.*114C>G)
c.523C>G (p.His175Asp)
c.457C>G (p.His153Asp)
5g.42699886C>TCA118048242GHRc.502C>T (p.His168Tyr)
c.436C>T (p.His146Tyr)
c.*114C>T (n.*114C>T)
c.523C>T (p.His175Tyr)
c.457C>T (p.His153Tyr)
 dbSNP gnomAD v4
5g.42699887A=CA1542294087GHRc.503A= (p.His168=)
c.437A= (p.His146=)
c.*115A= (n.*115A=)
c.524A= (p.His175=)
c.458A= (p.His153=)
5g.42699887A>CCA3254422GHRc.503A>C (p.His168Pro)
c.437A>C (p.His146Pro)
c.*115A>C (n.*115A>C)
c.524A>C (p.His175Pro)
c.458A>C (p.His153Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699887A>GCA359695511GHRc.503A>G (p.His168Arg)
c.437A>G (p.His146Arg)
c.*115A>G (n.*115A>G)
c.524A>G (p.His175Arg)
c.458A>G (p.His153Arg)
5g.42699887A>TCA359695512GHRc.503A>T (p.His168Leu)
c.437A>T (p.His146Leu)
c.*115A>T (n.*115A>T)
c.524A>T (p.His175Leu)
c.458A>T (p.His153Leu)
5g.42699888T>ACA359695513GHRc.504T>A (p.His168Gln)
c.438T>A (p.His146Gln)
c.*116T>A (n.*116T>A)
c.525T>A (p.His175Gln)
c.459T>A (p.His153Gln)
5g.42699888T>CCA3254423GHRc.504T>C (p.His168=)
c.438T>C (p.His146=)
c.*116T>C (n.*116T>C)
c.525T>C (p.His175=)
c.459T>C (p.His153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699888T>GCA119819GHRc.504T>G (p.His168Gln)
c.438T>G (p.His146Gln)
c.*116T>G (n.*116T>G)
c.525T>G (p.His175Gln)
c.459T>G (p.His153Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42699888T=CA1542294097GHRc.504T= (p.His168=)
c.438T= (p.His146=)
c.*116T= (n.*116T=)
c.525T= (p.His175=)
c.459T= (p.His153=)
5g.42699889G>ACA359695515GHRc.505G>A (p.Ala169Thr)
c.439G>A (p.Ala147Thr)
c.*117G>A (n.*117G>A)
c.526G>A (p.Ala176Thr)
c.460G>A (p.Ala154Thr)
 dbSNP
5g.42699889G>CCA359695514GHRc.505G>C (p.Ala169Pro)
c.439G>C (p.Ala147Pro)
c.*117G>C (n.*117G>C)
c.526G>C (p.Ala176Pro)
c.460G>C (p.Ala154Pro)
5g.42699889G=CA1542294102GHRc.505G= (p.Ala169=)
c.439G= (p.Ala147=)
c.*117G= (n.*117G=)
c.526G= (p.Ala176=)
c.460G= (p.Ala154=)
5g.42699889G>TCA359695516GHRc.505G>T (p.Ala169Ser)
c.439G>T (p.Ala147Ser)
c.*117G>T (n.*117G>T)
c.526G>T (p.Ala176Ser)
c.460G>T (p.Ala154Ser)
 COSMIC
5g.42699890C>ACA359695517GHRc.506C>A (p.Ala169Glu)
c.440C>A (p.Ala147Glu)
c.*118C>A (n.*118C>A)
c.527C>A (p.Ala176Glu)
c.461C>A (p.Ala154Glu)
 gnomAD v4
5g.42699890C=CA1542294107GHRc.506C= (p.Ala169=)
c.440C= (p.Ala147=)
c.*118C= (n.*118C=)
c.527C= (p.Ala176=)
c.461C= (p.Ala154=)
5g.42699890C>GCA359695519GHRc.506C>G (p.Ala169Gly)
c.440C>G (p.Ala147Gly)
c.*118C>G (n.*118C>G)
c.527C>G (p.Ala176Gly)
c.461C>G (p.Ala154Gly)
5g.42699890C>TCA359695518GHRc.506C>T (p.Ala169Val)
c.440C>T (p.Ala147Val)
c.*118C>T (n.*118C>T)
c.527C>T (p.Ala176Val)
c.461C>T (p.Ala154Val)
 dbSNP gnomAD v2 gnomAD v4
5g.42699891A>CCA443842047GHRc.507A>C (p.Ala169=)
c.441A>C (p.Ala147=)
c.*119A>C (n.*119A>C)
c.528A>C (p.Ala176=)
c.462A>C (p.Ala154=)
5g.42699891A>GCA443842054GHRc.507A>G (p.Ala169=)
c.441A>G (p.Ala147=)
c.*119A>G (n.*119A>G)
c.528A>G (p.Ala176=)
c.462A>G (p.Ala154=)
 gnomAD v4
5g.42699891A>TCA443842050GHRc.507A>T (p.Ala169=)
c.441A>T (p.Ala147=)
c.*119A>T (n.*119A>T)
c.528A>T (p.Ala176=)
c.462A>T (p.Ala154=)
5g.42699892G>ACA359695520GHRc.508G>A (p.Asp170Asn)
c.442G>A (p.Asp148Asn)
c.*120G>A (n.*120G>A)
c.529G>A (p.Asp177Asn)
c.463G>A (p.Asp155Asn)
5g.42699892G>CCA119811GHRc.508G>C (p.Asp170His)
c.442G>C (p.Asp148His)
c.*120G>C (n.*120G>C)
c.529G>C (p.Asp177His)
c.463G>C (p.Asp155His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.42699892G=CA1542294115GHRc.508G= (p.Asp170=)
c.442G= (p.Asp148=)
c.*120G= (n.*120G=)
c.529G= (p.Asp177=)
c.463G= (p.Asp155=)
5g.42699892G>TCA359695521GHRc.508G>T (p.Asp170Tyr)
c.442G>T (p.Asp148Tyr)
c.*120G>T (n.*120G>T)
c.529G>T (p.Asp177Tyr)
c.463G>T (p.Asp155Tyr)
5g.42699893A>CCA359695522GHRc.509A>C (p.Asp170Ala)
c.443A>C (p.Asp148Ala)
c.*121A>C (n.*121A>C)
c.530A>C (p.Asp177Ala)
c.464A>C (p.Asp155Ala)
5g.42699893A>GCA359695523GHRc.509A>G (p.Asp170Gly)
c.443A>G (p.Asp148Gly)
c.*121A>G (n.*121A>G)
c.530A>G (p.Asp177Gly)
c.464A>G (p.Asp155Gly)
5g.42699893A>TCA359695524GHRc.509A>T (p.Asp170Val)
c.443A>T (p.Asp148Val)
c.*121A>T (n.*121A>T)
c.530A>T (p.Asp177Val)
c.464A>T (p.Asp155Val)
5g.42699894T>ACA359695525GHRc.510T>A (p.Asp170Glu)
c.444T>A (p.Asp148Glu)
c.*122T>A (n.*122T>A)
c.531T>A (p.Asp177Glu)
c.465T>A (p.Asp155Glu)
5g.42699894T>CCA443842076GHRc.510T>C (p.Asp170=)
c.444T>C (p.Asp148=)
c.*122T>C (n.*122T>C)
c.531T>C (p.Asp177=)
c.465T>C (p.Asp155=)
5g.42699894T>GCA359695526GHRc.510T>G (p.Asp170Glu)
c.444T>G (p.Asp148Glu)
c.*122T>G (n.*122T>G)
c.531T>G (p.Asp177Glu)
c.465T>G (p.Asp155Glu)
5g.42699895A>CCA359695527GHRc.511A>C (p.Ile171Leu)
c.445A>C (p.Ile149Leu)
c.*123A>C (n.*123A>C)
c.532A>C (p.Ile178Leu)
c.466A>C (p.Ile156Leu)
5g.42699895A>GCA359695528GHRc.511A>G (p.Ile171Val)
c.445A>G (p.Ile149Val)
c.*123A>G (n.*123A>G)
c.532A>G (p.Ile178Val)
c.466A>G (p.Ile156Val)
5g.42699895A>TCA359695529GHRc.511A>T (p.Ile171Phe)
c.445A>T (p.Ile149Phe)
c.*123A>T (n.*123A>T)
c.532A>T (p.Ile178Phe)
c.466A>T (p.Ile156Phe)
5g.42699896T>ACA359695531GHRc.512T>A (p.Ile171Asn)
c.446T>A (p.Ile149Asn)
c.*124T>A (n.*124T>A)
c.533T>A (p.Ile178Asn)
c.467T>A (p.Ile156Asn)
 gnomAD v4
5g.42699896T>CCA119812GHRc.512T>C (p.Ile171Thr)
c.446T>C (p.Ile149Thr)
c.*124T>C (n.*124T>C)
c.533T>C (p.Ile178Thr)
c.467T>C (p.Ile156Thr)
 ClinVar dbSNP gnomAD v4
5g.42699896T>GCA359695530GHRc.512T>G (p.Ile171Ser)
c.446T>G (p.Ile149Ser)
c.*124T>G (n.*124T>G)
c.533T>G (p.Ile178Ser)
c.467T>G (p.Ile156Ser)
5g.42699896T=CA1542294128GHRc.512T= (p.Ile171=)
c.446T= (p.Ile149=)
c.*124T= (n.*124T=)
c.533T= (p.Ile178=)
c.467T= (p.Ile156=)
5g.42699897C>ACA118048243GHRc.513C>A (p.Ile171=)
c.447C>A (p.Ile149=)
c.*125C>A (n.*125C>A)
c.534C>A (p.Ile178=)
c.468C>A (p.Ile156=)
 dbSNP gnomAD v3 gnomAD v4
5g.42699897C=CA1542294131GHRc.513C= (p.Ile171=)
c.447C= (p.Ile149=)
c.*125C= (n.*125C=)
c.534C= (p.Ile178=)
c.468C= (p.Ile156=)
5g.42699897C>GCA359695532GHRc.513C>G (p.Ile171Met)
c.447C>G (p.Ile149Met)
c.*125C>G (n.*125C>G)
c.534C>G (p.Ile178Met)
c.468C>G (p.Ile156Met)
5g.42699897C>TCA443842107GHRc.513C>T (p.Ile171=)
c.447C>T (p.Ile149=)
c.*125C>T (n.*125C>T)
c.534C>T (p.Ile178=)
c.468C>T (p.Ile156=)
 gnomAD v4
5g.42699898C>ACA359695533GHRc.514C>A (p.Gln172Lys)
c.448C>A (p.Gln150Lys)
c.*126C>A (n.*126C>A)
c.535C>A (p.Gln179Lys)
c.469C>A (p.Gln157Lys)
 gnomAD v4
5g.42699898C>GCA359695534GHRc.514C>G (p.Gln172Glu)
c.448C>G (p.Gln150Glu)
c.*126C>G (n.*126C>G)
c.535C>G (p.Gln179Glu)
c.469C>G (p.Gln157Glu)
5g.42699898C>TCA359695535GHRc.514C>T (p.Gln172Ter)
c.448C>T (p.Gln150Ter)
c.*126C>T (n.*126C>T)
c.535C>T (p.Gln179Ter)
c.469C>T (p.Gln157Ter)
 gnomAD v4

Number of alleles fetched