Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43122433C>ACA371122279POMKc.609C>A (p.Cys203Ter)
c.*405C>A (n.*405C>A)
c.327C>A (p.Cys109Ter)
c.*529C>A (n.*529C>A)
c.567C>A (p.Cys189Ter)
c.*394C>A (n.*394C>A)
8g.43122433C=CA1779747397POMKc.609C= (p.Cys203=)
c.*405C= (n.*405C=)
c.327C= (p.Cys109=)
c.*529C= (n.*529C=)
c.567C= (p.Cys189=)
c.*394C= (n.*394C=)
8g.43122433C>GCA371122280POMKc.609C>G (p.Cys203Trp)
c.*405C>G (n.*405C>G)
c.327C>G (p.Cys109Trp)
c.*529C>G (n.*529C>G)
c.567C>G (p.Cys189Trp)
c.*394C>G (n.*394C>G)
8g.43122433C>TCA4736317POMKc.609C>T (p.Cys203=)
c.*405C>T (n.*405C>T)
c.327C>T (p.Cys109=)
c.*529C>T (n.*529C>T)
c.567C>T (p.Cys189=)
c.*394C>T (n.*394C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.43122434G>ACA4736318POMKc.610G>A (p.Asp204Asn)
c.*406G>A (n.*406G>A)
c.328G>A (p.Asp110Asn)
c.*530G>A (n.*530G>A)
c.568G>A (p.Asp190Asn)
c.*395G>A (n.*395G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122434G>CCA371122281POMKc.610G>C (p.Asp204His)
c.*406G>C (n.*406G>C)
c.328G>C (p.Asp110His)
c.*530G>C (n.*530G>C)
c.568G>C (p.Asp190His)
c.*395G>C (n.*395G>C)
8g.43122434G=CA1779747402POMKc.610G= (p.Asp204=)
c.*406G= (n.*406G=)
c.328G= (p.Asp110=)
c.*530G= (n.*530G=)
c.568G= (p.Asp190=)
c.*395G= (n.*395G=)
8g.43122434G>TCA371122282POMKc.610G>T (p.Asp204Tyr)
c.*406G>T (n.*406G>T)
c.328G>T (p.Asp110Tyr)
c.*530G>T (n.*530G>T)
c.568G>T (p.Asp190Tyr)
c.*395G>T (n.*395G>T)
gnomAD v4
8g.43122435A>CCA371122283POMKc.611A>C (p.Asp204Ala)
c.*407A>C (n.*407A>C)
c.329A>C (p.Asp110Ala)
c.*531A>C (n.*531A>C)
c.569A>C (p.Asp190Ala)
c.*396A>C (n.*396A>C)
8g.43122435A>GCA371122284POMKc.611A>G (p.Asp204Gly)
c.*407A>G (n.*407A>G)
c.329A>G (p.Asp110Gly)
c.*531A>G (n.*531A>G)
c.569A>G (p.Asp190Gly)
c.*396A>G (n.*396A>G)
8g.43122435A>TCA371122285POMKc.611A>T (p.Asp204Val)
c.*407A>T (n.*407A>T)
c.329A>T (p.Asp110Val)
c.*531A>T (n.*531A>T)
c.569A>T (p.Asp190Val)
c.*396A>T (n.*396A>T)
8g.43122436C>ACA371122286POMKc.612C>A (p.Asp204Glu)
c.*408C>A (n.*408C>A)
c.330C>A (p.Asp110Glu)
c.*532C>A (n.*532C>A)
c.570C>A (p.Asp190Glu)
c.*397C>A (n.*397C>A)
8g.43122436C>GCA371122287POMKc.612C>G (p.Asp204Glu)
c.*408C>G (n.*408C>G)
c.330C>G (p.Asp110Glu)
c.*532C>G (n.*532C>G)
c.570C>G (p.Asp190Glu)
c.*397C>G (n.*397C>G)
8g.43122436C>TCA460787236POMKc.612C>T (p.Asp204=)
c.*408C>T (n.*408C>T)
c.330C>T (p.Asp110=)
c.*532C>T (n.*532C>T)
c.570C>T (p.Asp190=)
c.*397C>T (n.*397C>T)
8g.43122437T>ACA371122290POMKc.613T>A (p.Ser205Thr)
c.*409T>A (n.*409T>A)
c.331T>A (p.Ser111Thr)
c.*533T>A (n.*533T>A)
c.571T>A (p.Ser191Thr)
c.*398T>A (n.*398T>A)
8g.43122437T>CCA371122288POMKc.613T>C (p.Ser205Pro)
c.*409T>C (n.*409T>C)
c.331T>C (p.Ser111Pro)
c.*533T>C (n.*533T>C)
c.571T>C (p.Ser191Pro)
c.*398T>C (n.*398T>C)
8g.43122437T>GCA371122289POMKc.613T>G (p.Ser205Ala)
c.*409T>G (n.*409T>G)
c.331T>G (p.Ser111Ala)
c.*533T>G (n.*533T>G)
c.571T>G (p.Ser191Ala)
c.*398T>G (n.*398T>G)
8g.43122438C>ACA371122291POMKc.614C>A (p.Ser205Tyr)
c.*410C>A (n.*410C>A)
c.332C>A (p.Ser111Tyr)
c.*534C>A (n.*534C>A)
c.572C>A (p.Ser191Tyr)
c.*399C>A (n.*399C>A)
8g.43122438C=CA1779747405POMKc.614C= (p.Ser205=)
c.*410C= (n.*410C=)
c.332C= (p.Ser111=)
c.*534C= (n.*534C=)
c.572C= (p.Ser191=)
c.*399C= (n.*399C=)
8g.43122438C>GCA4736319POMKc.614C>G (p.Ser205Cys)
c.*410C>G (n.*410C>G)
c.332C>G (p.Ser111Cys)
c.*534C>G (n.*534C>G)
c.572C>G (p.Ser191Cys)
c.*399C>G (n.*399C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122438C>TCA371122292POMKc.614C>T (p.Ser205Phe)
c.*410C>T (n.*410C>T)
c.332C>T (p.Ser111Phe)
c.*534C>T (n.*534C>T)
c.572C>T (p.Ser191Phe)
c.*399C>T (n.*399C>T)
8g.43122439dupCA2695199724POMKc.615dup (p.Asn206GlnfsTer22)
c.*411dup (n.*411dup)
c.333dup (p.Asn112GlnfsTer22)
c.*535dup (n.*535dup)
c.573dup (p.Asn192GlnfsTer22)
c.*400dup (n.*400dup)
ClinVar
8g.43122439C>ACA460787237POMKc.615C>A (p.Ser205=)
c.*411C>A (n.*411C>A)
c.333C>A (p.Ser111=)
c.*535C>A (n.*535C>A)
c.573C>A (p.Ser191=)
c.*400C>A (n.*400C>A)
8g.43122439C=CA1779747408POMKc.615C= (p.Ser205=)
c.*411C= (n.*411C=)
c.333C= (p.Ser111=)
c.*535C= (n.*535C=)
c.573C= (p.Ser191=)
c.*400C= (n.*400C=)
8g.43122439C>GCA460787238POMKc.615C>G (p.Ser205=)
c.*411C>G (n.*411C>G)
c.333C>G (p.Ser111=)
c.*535C>G (n.*535C>G)
c.573C>G (p.Ser191=)
c.*400C>G (n.*400C>G)
8g.43122439C>TCA4736320POMKc.615C>T (p.Ser205=)
c.*411C>T (n.*411C>T)
c.333C>T (p.Ser111=)
c.*535C>T (n.*535C>T)
c.573C>T (p.Ser191=)
c.*400C>T (n.*400C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122440A=CA1779747411POMKc.616A= (p.Asn206=)
c.*412A= (n.*412A=)
c.334A= (p.Asn112=)
c.*536A= (n.*536A=)
c.574A= (p.Asn192=)
c.*401A= (n.*401A=)
8g.43122440A>CCA371122293POMKc.616A>C (p.Asn206His)
c.*412A>C (n.*412A>C)
c.334A>C (p.Asn112His)
c.*536A>C (n.*536A>C)
c.574A>C (p.Asn192His)
c.*401A>C (n.*401A>C)
8g.43122440A>GCA371122294POMKc.616A>G (p.Asn206Asp)
c.*412A>G (n.*412A>G)
c.334A>G (p.Asn112Asp)
c.*536A>G (n.*536A>G)
c.574A>G (p.Asn192Asp)
c.*401A>G (n.*401A>G)
dbSNP gnomAD v4
8g.43122440A>TCA371122295POMKc.616A>T (p.Asn206Tyr)
c.*412A>T (n.*412A>T)
c.334A>T (p.Asn112Tyr)
c.*536A>T (n.*536A>T)
c.574A>T (p.Asn192Tyr)
c.*401A>T (n.*401A>T)
8g.43122441A=CA1779747415POMKc.617A= (p.Asn206=)
c.*413A= (n.*413A=)
c.335A= (p.Asn112=)
c.*537A= (n.*537A=)
c.575A= (p.Asn192=)
c.*402A= (n.*402A=)
8g.43122441A>CCA371122296POMKc.617A>C (p.Asn206Thr)
c.*413A>C (n.*413A>C)
c.335A>C (p.Asn112Thr)
c.*537A>C (n.*537A>C)
c.575A>C (p.Asn192Thr)
c.*402A>C (n.*402A>C)
8g.43122441A>GCA4736321POMKc.617A>G (p.Asn206Ser)
c.*413A>G (n.*413A>G)
c.335A>G (p.Asn112Ser)
c.*537A>G (n.*537A>G)
c.575A>G (p.Asn192Ser)
c.*402A>G (n.*402A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122441A>TCA371122297POMKc.617A>T (p.Asn206Ile)
c.*413A>T (n.*413A>T)
c.335A>T (p.Asn112Ile)
c.*537A>T (n.*537A>T)
c.575A>T (p.Asn192Ile)
c.*402A>T (n.*402A>T)
8g.43122442C>ACA371122298POMKc.618C>A (p.Asn206Lys)
c.*414C>A (n.*414C>A)
c.336C>A (p.Asn112Lys)
c.*538C>A (n.*538C>A)
c.576C>A (p.Asn192Lys)
c.*403C>A (n.*403C>A)
gnomAD v4
8g.43122442C=CA1779747420POMKc.618C= (p.Asn206=)
c.*414C= (n.*414C=)
c.336C= (p.Asn112=)
c.*538C= (n.*538C=)
c.576C= (p.Asn192=)
c.*403C= (n.*403C=)
8g.43122442C>GCA371122299POMKc.618C>G (p.Asn206Lys)
c.*414C>G (n.*414C>G)
c.336C>G (p.Asn112Lys)
c.*538C>G (n.*538C>G)
c.576C>G (p.Asn192Lys)
c.*403C>G (n.*403C>G)
8g.43122442C>TCA4736322POMKc.618C>T (p.Asn206=)
c.*414C>T (n.*414C>T)
c.336C>T (p.Asn112=)
c.*538C>T (n.*538C>T)
c.576C>T (p.Asn192=)
c.*403C>T (n.*403C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122443G>ACA4736323POMKc.619G>A (p.Asp207Asn)
c.*415G>A (n.*415G>A)
c.337G>A (p.Asp113Asn)
c.*539G>A (n.*539G>A)
c.577G>A (p.Asp193Asn)
c.*404G>A (n.*404G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122443G>CCA371122301POMKc.619G>C (p.Asp207His)
c.*415G>C (n.*415G>C)
c.337G>C (p.Asp113His)
c.*539G>C (n.*539G>C)
c.577G>C (p.Asp193His)
c.*404G>C (n.*404G>C)
8g.43122443G=CA1779747428POMKc.619G= (p.Asp207=)
c.*415G= (n.*415G=)
c.337G= (p.Asp113=)
c.*539G= (n.*539G=)
c.577G= (p.Asp193=)
c.*404G= (n.*404G=)
8g.43122443G>TCA371122300POMKc.619G>T (p.Asp207Tyr)
c.*415G>T (n.*415G>T)
c.337G>T (p.Asp113Tyr)
c.*539G>T (n.*539G>T)
c.577G>T (p.Asp193Tyr)
c.*404G>T (n.*404G>T)
8g.43122444A=CA1779747433POMKc.620A= (p.Asp207=)
c.*416A= (n.*416A=)
c.338A= (p.Asp113=)
c.*540A= (n.*540A=)
c.578A= (p.Asp193=)
c.*405A= (n.*405A=)
8g.43122444A>CCA371122302POMKc.620A>C (p.Asp207Ala)
c.*416A>C (n.*416A>C)
c.338A>C (p.Asp113Ala)
c.*540A>C (n.*540A>C)
c.578A>C (p.Asp193Ala)
c.*405A>C (n.*405A>C)
dbSNP gnomAD v4
8g.43122444A>GCA4736324POMKc.620A>G (p.Asp207Gly)
c.*416A>G (n.*416A>G)
c.338A>G (p.Asp113Gly)
c.*540A>G (n.*540A>G)
c.578A>G (p.Asp193Gly)
c.*405A>G (n.*405A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122444A>TCA371122303POMKc.620A>T (p.Asp207Val)
c.*416A>T (n.*416A>T)
c.338A>T (p.Asp113Val)
c.*540A>T (n.*540A>T)
c.578A>T (p.Asp193Val)
c.*405A>T (n.*405A>T)
8g.43122445C>ACA371122304POMKc.621C>A (p.Asp207Glu)
c.*417C>A (n.*417C>A)
c.339C>A (p.Asp113Glu)
c.*541C>A (n.*541C>A)
c.579C>A (p.Asp193Glu)
c.*406C>A (n.*406C>A)
8g.43122445C=CA1779747439POMKc.621C= (p.Asp207=)
c.*417C= (n.*417C=)
c.339C= (p.Asp113=)
c.*541C= (n.*541C=)
c.579C= (p.Asp193=)
c.*406C= (n.*406C=)
8g.43122445C>GCA371122305POMKc.621C>G (p.Asp207Glu)
c.*417C>G (n.*417C>G)
c.339C>G (p.Asp113Glu)
c.*541C>G (n.*541C>G)
c.579C>G (p.Asp193Glu)
c.*406C>G (n.*406C>G)
8g.43122445C>TCA460787239POMKc.621C>T (p.Asp207=)
c.*417C>T (n.*417C>T)
c.339C>T (p.Asp113=)
c.*541C>T (n.*541C>T)
c.579C>T (p.Asp193=)
c.*406C>T (n.*406C>T)
dbSNP
8g.43122447_43122450delCA2779904272POMKc.623_626del (p.Leu208ArgfsTer9)
c.*419_*422del (n.*419_*422del)
c.341_344del (p.Leu114ArgfsTer9)
c.*543_*546del (n.*543_*546del)
c.581_584del (p.Leu194ArgfsTer9)
c.*408_*411del (n.*408_*411del)
8g.43122446C>ACA371122306POMKc.622C>A (p.Leu208Met)
c.*418C>A (n.*418C>A)
c.340C>A (p.Leu114Met)
c.*542C>A (n.*542C>A)
c.580C>A (p.Leu194Met)
c.*407C>A (n.*407C>A)
8g.43122446C=CA1779747441POMKc.622C= (p.Leu208=)
c.*418C= (n.*418C=)
c.340C= (p.Leu114=)
c.*542C= (n.*542C=)
c.580C= (p.Leu194=)
c.*407C= (n.*407C=)
8g.43122446C>GCA371122307POMKc.622C>G (p.Leu208Val)
c.*418C>G (n.*418C>G)
c.340C>G (p.Leu114Val)
c.*542C>G (n.*542C>G)
c.580C>G (p.Leu194Val)
c.*407C>G (n.*407C>G)
8g.43122446C>TCA460787240POMKc.622C>T (p.Leu208=)
c.*418C>T (n.*418C>T)
c.340C>T (p.Leu114=)
c.*542C>T (n.*542C>T)
c.580C>T (p.Leu194=)
c.*407C>T (n.*407C>T)
ClinVar dbSNP gnomAD v4
8g.43122447T>ACA371122308POMKc.623T>A (p.Leu208Gln)
c.*419T>A (n.*419T>A)
c.341T>A (p.Leu114Gln)
c.*543T>A (n.*543T>A)
c.581T>A (p.Leu194Gln)
c.*408T>A (n.*408T>A)
8g.43122447T>CCA371122310POMKc.623T>C (p.Leu208Pro)
c.*419T>C (n.*419T>C)
c.341T>C (p.Leu114Pro)
c.*543T>C (n.*543T>C)
c.581T>C (p.Leu194Pro)
c.*408T>C (n.*408T>C)
8g.43122447T>GCA371122309POMKc.623T>G (p.Leu208Arg)
c.*419T>G (n.*419T>G)
c.341T>G (p.Leu114Arg)
c.*543T>G (n.*543T>G)
c.581T>G (p.Leu194Arg)
c.*408T>G (n.*408T>G)
8g.43122448G>ACA460787241POMKc.624G>A (p.Leu208=)
c.*420G>A (n.*420G>A)
c.342G>A (p.Leu114=)
c.*544G>A (n.*544G>A)
c.582G>A (p.Leu194=)
c.*409G>A (n.*409G>A)
8g.43122448G>CCA4736325POMKc.624G>C (p.Leu208=)
c.*420G>C (n.*420G>C)
c.342G>C (p.Leu114=)
c.*544G>C (n.*544G>C)
c.582G>C (p.Leu194=)
c.*409G>C (n.*409G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122448G=CA1779747446POMKc.624G= (p.Leu208=)
c.*420G= (n.*420G=)
c.342G= (p.Leu114=)
c.*544G= (n.*544G=)
c.582G= (p.Leu194=)
c.*409G= (n.*409G=)
8g.43122448G>TCA460787242POMKc.624G>T (p.Leu208=)
c.*420G>T (n.*420G>T)
c.342G>T (p.Leu114=)
c.*544G>T (n.*544G>T)
c.582G>T (p.Leu194=)
c.*409G>T (n.*409G>T)
8g.43122449C>ACA371122311POMKc.625C>A (p.Pro209Thr)
c.*421C>A (n.*421C>A)
c.343C>A (p.Pro115Thr)
c.*545C>A (n.*545C>A)
c.583C>A (p.Pro195Thr)
c.*410C>A (n.*410C>A)
8g.43122449C=CA1779747451POMKc.625C= (p.Pro209=)
c.*421C= (n.*421C=)
c.343C= (p.Pro115=)
c.*545C= (n.*545C=)
c.583C= (p.Pro195=)
c.*410C= (n.*410C=)
8g.43122449C>GCA371122312POMKc.625C>G (p.Pro209Ala)
c.*421C>G (n.*421C>G)
c.343C>G (p.Pro115Ala)
c.*545C>G (n.*545C>G)
c.583C>G (p.Pro195Ala)
c.*410C>G (n.*410C>G)
8g.43122449C>TCA371122313POMKc.625C>T (p.Pro209Ser)
c.*421C>T (n.*421C>T)
c.343C>T (p.Pro115Ser)
c.*545C>T (n.*545C>T)
c.583C>T (p.Pro195Ser)
c.*410C>T (n.*410C>T)
dbSNP gnomAD v2
8g.43122450C>ACA371122315POMKc.626C>A (p.Pro209Gln)
c.*422C>A (n.*422C>A)
c.344C>A (p.Pro115Gln)
c.*546C>A (n.*546C>A)
c.584C>A (p.Pro195Gln)
c.*411C>A (n.*411C>A)
8g.43122450C=CA1779747453POMKc.626C= (p.Pro209=)
c.*422C= (n.*422C=)
c.344C= (p.Pro115=)
c.*546C= (n.*546C=)
c.584C= (p.Pro195=)
c.*411C= (n.*411C=)
8g.43122450C>GCA371122314POMKc.626C>G (p.Pro209Arg)
c.*422C>G (n.*422C>G)
c.344C>G (p.Pro115Arg)
c.*546C>G (n.*546C>G)
c.584C>G (p.Pro195Arg)
c.*411C>G (n.*411C>G)
8g.43122450C>TCA4736326POMKc.626C>T (p.Pro209Leu)
c.*422C>T (n.*422C>T)
c.344C>T (p.Pro115Leu)
c.*546C>T (n.*546C>T)
c.584C>T (p.Pro195Leu)
c.*411C>T (n.*411C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122451G>ACA4736327POMKc.627G>A (p.Pro209=)
c.*423G>A (n.*423G>A)
c.345G>A (p.Pro115=)
c.*547G>A (n.*547G>A)
c.585G>A (p.Pro195=)
c.*412G>A (n.*412G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.43122451G>CCA460787243POMKc.627G>C (p.Pro209=)
c.*423G>C (n.*423G>C)
c.345G>C (p.Pro115=)
c.*547G>C (n.*547G>C)
c.585G>C (p.Pro195=)
c.*412G>C (n.*412G>C)
8g.43122451G=CA1779747457POMKc.627G= (p.Pro209=)
c.*423G= (n.*423G=)
c.345G= (p.Pro115=)
c.*547G= (n.*547G=)
c.585G= (p.Pro195=)
c.*412G= (n.*412G=)
8g.43122451G>TCA460787244POMKc.627G>T (p.Pro209=)
c.*423G>T (n.*423G>T)
c.345G>T (p.Pro115=)
c.*547G>T (n.*547G>T)
c.585G>T (p.Pro195=)
c.*412G>T (n.*412G>T)
8g.43122452A>CCA371122316POMKc.628A>C (p.Lys210Gln)
c.*424A>C (n.*424A>C)
c.346A>C (p.Lys116Gln)
c.*548A>C (n.*548A>C)
c.586A>C (p.Lys196Gln)
c.*413A>C (n.*413A>C)
8g.43122452A>GCA371122317POMKc.628A>G (p.Lys210Glu)
c.*424A>G (n.*424A>G)
c.346A>G (p.Lys116Glu)
c.*548A>G (n.*548A>G)
c.586A>G (p.Lys196Glu)
c.*413A>G (n.*413A>G)
gnomAD v4
8g.43122452A>TCA371122318POMKc.628A>T (p.Lys210Ter)
c.*424A>T (n.*424A>T)
c.346A>T (p.Lys116Ter)
c.*548A>T (n.*548A>T)
c.586A>T (p.Lys196Ter)
c.*413A>T (n.*413A>T)
8g.43122453A>CCA371122319POMKc.629A>C (p.Lys210Thr)
c.*425A>C (n.*425A>C)
c.347A>C (p.Lys116Thr)
c.*549A>C (n.*549A>C)
c.587A>C (p.Lys196Thr)
c.*414A>C (n.*414A>C)
8g.43122453A>GCA371122320POMKc.629A>G (p.Lys210Arg)
c.*425A>G (n.*425A>G)
c.347A>G (p.Lys116Arg)
c.*549A>G (n.*549A>G)
c.587A>G (p.Lys196Arg)
c.*414A>G (n.*414A>G)
8g.43122453A>TCA371122321POMKc.629A>T (p.Lys210Met)
c.*425A>T (n.*425A>T)
c.347A>T (p.Lys116Met)
c.*549A>T (n.*549A>T)
c.587A>T (p.Lys196Met)
c.*414A>T (n.*414A>T)
8g.43122454G>ACA460787245POMKc.630G>A (p.Lys210=)
c.*426G>A (n.*426G>A)
c.348G>A (p.Lys116=)
c.*550G>A (n.*550G>A)
c.588G>A (p.Lys196=)
c.*415G>A (n.*415G>A)
8g.43122454G>CCA371122322POMKc.630G>C (p.Lys210Asn)
c.*426G>C (n.*426G>C)
c.348G>C (p.Lys116Asn)
c.*550G>C (n.*550G>C)
c.588G>C (p.Lys196Asn)
c.*415G>C (n.*415G>C)
8g.43122454G>TCA371122323POMKc.630G>T (p.Lys210Asn)
c.*426G>T (n.*426G>T)
c.348G>T (p.Lys116Asn)
c.*550G>T (n.*550G>T)
c.588G>T (p.Lys196Asn)
c.*415G>T (n.*415G>T)
COSMIC COSMIC
8g.43122455A>CCA371122324POMKc.631A>C (p.Thr211Pro)
c.*427A>C (n.*427A>C)
c.349A>C (p.Thr117Pro)
c.*551A>C (n.*551A>C)
c.589A>C (p.Thr197Pro)
c.*416A>C (n.*416A>C)
8g.43122455A>GCA371122325POMKc.631A>G (p.Thr211Ala)
c.*427A>G (n.*427A>G)
c.349A>G (p.Thr117Ala)
c.*551A>G (n.*551A>G)
c.589A>G (p.Thr197Ala)
c.*416A>G (n.*416A>G)
8g.43122455A>TCA371122326POMKc.631A>T (p.Thr211Ser)
c.*427A>T (n.*427A>T)
c.349A>T (p.Thr117Ser)
c.*551A>T (n.*551A>T)
c.589A>T (p.Thr197Ser)
c.*416A>T (n.*416A>T)
8g.43122456C>ACA371122327POMKc.632C>A (p.Thr211Lys)
c.*428C>A (n.*428C>A)
c.350C>A (p.Thr117Lys)
c.*552C>A (n.*552C>A)
c.590C>A (p.Thr197Lys)
c.*417C>A (n.*417C>A)
8g.43122456C>GCA371122329POMKc.632C>G (p.Thr211Arg)
c.*428C>G (n.*428C>G)
c.350C>G (p.Thr117Arg)
c.*552C>G (n.*552C>G)
c.590C>G (p.Thr197Arg)
c.*417C>G (n.*417C>G)
8g.43122456C>TCA371122328POMKc.632C>T (p.Thr211Ile)
c.*428C>T (n.*428C>T)
c.350C>T (p.Thr117Ile)
c.*552C>T (n.*552C>T)
c.590C>T (p.Thr197Ile)
c.*417C>T (n.*417C>T)
gnomAD v4
8g.43122457A=CA1779747460POMKc.633A= (p.Thr211=)
c.*429A= (n.*429A=)
c.351A= (p.Thr117=)
c.*553A= (n.*553A=)
c.591A= (p.Thr197=)
c.*418A= (n.*418A=)
8g.43122457A>CCA176080176POMKc.633A>C (p.Thr211=)
c.*429A>C (n.*429A>C)
c.351A>C (p.Thr117=)
c.*553A>C (n.*553A>C)
c.591A>C (p.Thr197=)
c.*418A>C (n.*418A>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.43122457A>GCA460787246POMKc.633A>G (p.Thr211=)
c.*429A>G (n.*429A>G)
c.351A>G (p.Thr117=)
c.*553A>G (n.*553A>G)
c.591A>G (p.Thr197=)
c.*418A>G (n.*418A>G)
gnomAD v4
8g.43122457A>TCA460787247POMKc.633A>T (p.Thr211=)
c.*429A>T (n.*429A>T)
c.351A>T (p.Thr117=)
c.*553A>T (n.*553A>T)
c.591A>T (p.Thr197=)
c.*418A>T (n.*418A>T)
8g.43122458C>ACA371122330POMKc.634C>A (p.Leu212Met)
c.*430C>A (n.*430C>A)
c.352C>A (p.Leu118Met)
c.*554C>A (n.*554C>A)
c.592C>A (p.Leu198Met)
c.*419C>A (n.*419C>A)
8g.43122458C=CA1779747468POMKc.634C= (p.Leu212=)
c.*430C= (n.*430C=)
c.352C= (p.Leu118=)
c.*554C= (n.*554C=)
c.592C= (p.Leu198=)
c.*419C= (n.*419C=)
8g.43122458C>GCA371122331POMKc.634C>G (p.Leu212Val)
c.*430C>G (n.*430C>G)
c.352C>G (p.Leu118Val)
c.*554C>G (n.*554C>G)
c.592C>G (p.Leu198Val)
c.*419C>G (n.*419C>G)
ClinVar dbSNP gnomAD v4
8g.43122458C>TCA4736328POMKc.634C>T (p.Leu212=)
c.*430C>T (n.*430C>T)
c.352C>T (p.Leu118=)
c.*554C>T (n.*554C>T)
c.592C>T (p.Leu198=)
c.*419C>T (n.*419C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122459T>ACA371122332POMKc.635T>A (p.Leu212Gln)
c.*431T>A (n.*431T>A)
c.353T>A (p.Leu118Gln)
c.*555T>A (n.*555T>A)
c.593T>A (p.Leu198Gln)
c.*420T>A (n.*420T>A)
8g.43122459T>CCA371122333POMKc.635T>C (p.Leu212Pro)
c.*431T>C (n.*431T>C)
c.353T>C (p.Leu118Pro)
c.*555T>C (n.*555T>C)
c.593T>C (p.Leu198Pro)
c.*420T>C (n.*420T>C)
gnomAD v4
8g.43122459T>GCA371122334POMKc.635T>G (p.Leu212Arg)
c.*431T>G (n.*431T>G)
c.353T>G (p.Leu118Arg)
c.*555T>G (n.*555T>G)
c.593T>G (p.Leu198Arg)
c.*420T>G (n.*420T>G)
8g.43122460G>ACA460787248POMKc.636G>A (p.Leu212=)
c.*432G>A (n.*432G>A)
c.354G>A (p.Leu118=)
c.*556G>A (n.*556G>A)
c.594G>A (p.Leu198=)
c.*421G>A (n.*421G>A)
gnomAD v4
8g.43122460G>CCA460787250POMKc.636G>C (p.Leu212=)
c.*432G>C (n.*432G>C)
c.354G>C (p.Leu118=)
c.*556G>C (n.*556G>C)
c.594G>C (p.Leu198=)
c.*421G>C (n.*421G>C)
8g.43122460G>TCA460787249POMKc.636G>T (p.Leu212=)
c.*432G>T (n.*432G>T)
c.354G>T (p.Leu118=)
c.*556G>T (n.*556G>T)
c.594G>T (p.Leu198=)
c.*421G>T (n.*421G>T)
8g.43122461T>ACA371122335POMKc.637T>A (p.Ser213Thr)
c.*433T>A (n.*433T>A)
c.355T>A (p.Ser119Thr)
c.*557T>A (n.*557T>A)
c.595T>A (p.Ser199Thr)
c.*422T>A (n.*422T>A)
8g.43122461T>CCA371122336POMKc.637T>C (p.Ser213Pro)
c.*433T>C (n.*433T>C)
c.355T>C (p.Ser119Pro)
c.*557T>C (n.*557T>C)
c.595T>C (p.Ser199Pro)
c.*422T>C (n.*422T>C)
COSMIC COSMIC
8g.43122461T>GCA371122337POMKc.637T>G (p.Ser213Ala)
c.*433T>G (n.*433T>G)
c.355T>G (p.Ser119Ala)
c.*557T>G (n.*557T>G)
c.595T>G (p.Ser199Ala)
c.*422T>G (n.*422T>G)
8g.43122462C>ACA371122338POMKc.638C>A (p.Ser213Tyr)
c.*434C>A (n.*434C>A)
c.356C>A (p.Ser119Tyr)
c.*558C>A (n.*558C>A)
c.596C>A (p.Ser199Tyr)
c.*423C>A (n.*423C>A)
8g.43122462C=CA1779747471POMKc.638C= (p.Ser213=)
c.*434C= (n.*434C=)
c.356C= (p.Ser119=)
c.*558C= (n.*558C=)
c.596C= (p.Ser199=)
c.*423C= (n.*423C=)
8g.43122462C>GCA371122339POMKc.638C>G (p.Ser213Cys)
c.*434C>G (n.*434C>G)
c.356C>G (p.Ser119Cys)
c.*558C>G (n.*558C>G)
c.596C>G (p.Ser199Cys)
c.*423C>G (n.*423C>G)
8g.43122462C>TCA4736329POMKc.638C>T (p.Ser213Phe)
c.*434C>T (n.*434C>T)
c.356C>T (p.Ser119Phe)
c.*558C>T (n.*558C>T)
c.596C>T (p.Ser199Phe)
c.*423C>T (n.*423C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122463C>ACA460787253POMKc.639C>A (p.Ser213=)
c.*435C>A (n.*435C>A)
c.357C>A (p.Ser119=)
c.*559C>A (n.*559C>A)
c.597C>A (p.Ser199=)
c.*424C>A (n.*424C>A)
8g.43122463C=CA1779747474POMKc.639C= (p.Ser213=)
c.*435C= (n.*435C=)
c.357C= (p.Ser119=)
c.*559C= (n.*559C=)
c.597C= (p.Ser199=)
c.*424C= (n.*424C=)
8g.43122463C>GCA460787252POMKc.639C>G (p.Ser213=)
c.*435C>G (n.*435C>G)
c.357C>G (p.Ser119=)
c.*559C>G (n.*559C>G)
c.597C>G (p.Ser199=)
c.*424C>G (n.*424C>G)
gnomAD v4
8g.43122463C>TCA460787251POMKc.639C>T (p.Ser213=)
c.*435C>T (n.*435C>T)
c.357C>T (p.Ser119=)
c.*559C>T (n.*559C>T)
c.597C>T (p.Ser199=)
c.*424C>T (n.*424C>T)
dbSNP gnomAD v3 gnomAD v4
8g.43122463_43122466delCA2687148390POMKc.639_642del (p.Gln214IlefsTer3)
c.*435_*438del (n.*435_*438del)
c.357_360del (p.Gln120IlefsTer3)
c.*559_*562del (n.*559_*562del)
c.597_600del (p.Gln200IlefsTer3)
c.*424_*427del (n.*424_*427del)
gnomAD v4
8g.43122464C>ACA371122342POMKc.640C>A (p.Gln214Lys)
c.*436C>A (n.*436C>A)
c.358C>A (p.Gln120Lys)
c.*560C>A (n.*560C>A)
c.598C>A (p.Gln200Lys)
c.*425C>A (n.*425C>A)
8g.43122464C>GCA371122340POMKc.640C>G (p.Gln214Glu)
c.*436C>G (n.*436C>G)
c.358C>G (p.Gln120Glu)
c.*560C>G (n.*560C>G)
c.598C>G (p.Gln200Glu)
c.*425C>G (n.*425C>G)
8g.43122464C>TCA371122341POMKc.640C>T (p.Gln214Ter)
c.*436C>T (n.*436C>T)
c.358C>T (p.Gln120Ter)
c.*560C>T (n.*560C>T)
c.598C>T (p.Gln200Ter)
c.*425C>T (n.*425C>T)
gnomAD v4
8g.43122464_43122467dupCA581929128POMKc.640_643dup (p.Tyr215SerfsTer14)
c.*436_*439dup (n.*436_*439dup)
c.358_361dup (p.Tyr121SerfsTer14)
c.*560_*563dup (n.*560_*563dup)
c.598_601dup (p.Tyr201SerfsTer14)
c.*425_*428dup (n.*425_*428dup)
dbSNP gnomAD v2 gnomAD v4
8g.43122465A=CA1779747478POMKc.641A= (p.Gln214=)
c.*437A= (n.*437A=)
c.359A= (p.Gln120=)
c.*561A= (n.*561A=)
c.599A= (p.Gln200=)
c.*426A= (n.*426A=)
8g.43122465A>CCA371122343POMKc.641A>C (p.Gln214Pro)
c.*437A>C (n.*437A>C)
c.359A>C (p.Gln120Pro)
c.*561A>C (n.*561A>C)
c.599A>C (p.Gln200Pro)
c.*426A>C (n.*426A>C)
gnomAD v4
8g.43122465A>GCA371122344POMKc.641A>G (p.Gln214Arg)
c.*437A>G (n.*437A>G)
c.359A>G (p.Gln120Arg)
c.*561A>G (n.*561A>G)
c.599A>G (p.Gln200Arg)
c.*426A>G (n.*426A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122465A>TCA371122345POMKc.641A>T (p.Gln214Leu)
c.*437A>T (n.*437A>T)
c.359A>T (p.Gln120Leu)
c.*561A>T (n.*561A>T)
c.599A>T (p.Gln200Leu)
c.*426A>T (n.*426A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.43122466G>ACA4736330POMKc.642G>A (p.Gln214=)
c.*438G>A (n.*438G>A)
c.360G>A (p.Gln120=)
c.*562G>A (n.*562G>A)
c.600G>A (p.Gln200=)
c.*427G>A (n.*427G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122466G>CCA371122346POMKc.642G>C (p.Gln214His)
c.*438G>C (n.*438G>C)
c.360G>C (p.Gln120His)
c.*562G>C (n.*562G>C)
c.600G>C (p.Gln200His)
c.*427G>C (n.*427G>C)
8g.43122466G=CA1779747484POMKc.642G= (p.Gln214=)
c.*438G= (n.*438G=)
c.360G= (p.Gln120=)
c.*562G= (n.*562G=)
c.600G= (p.Gln200=)
c.*427G= (n.*427G=)
8g.43122466G>TCA176080190POMKc.642G>T (p.Gln214His)
c.*438G>T (n.*438G>T)
c.360G>T (p.Gln120His)
c.*562G>T (n.*562G>T)
c.600G>T (p.Gln200His)
c.*427G>T (n.*427G>T)
dbSNP
8g.43122467T>ACA371122347POMKc.643T>A (p.Tyr215Asn)
c.*439T>A (n.*439T>A)
c.361T>A (p.Tyr121Asn)
c.*563T>A (n.*563T>A)
c.601T>A (p.Tyr201Asn)
c.*428T>A (n.*428T>A)
8g.43122467T>CCA371122348POMKc.643T>C (p.Tyr215His)
c.*439T>C (n.*439T>C)
c.361T>C (p.Tyr121His)
c.*563T>C (n.*563T>C)
c.601T>C (p.Tyr201His)
c.*428T>C (n.*428T>C)
COSMIC COSMIC
8g.43122467T>GCA371122349POMKc.643T>G (p.Tyr215Asp)
c.*439T>G (n.*439T>G)
c.361T>G (p.Tyr121Asp)
c.*563T>G (n.*563T>G)
c.601T>G (p.Tyr201Asp)
c.*428T>G (n.*428T>G)
8g.43122468delCA2687148405POMKc.644del (p.Tyr215PhefsTer3)
c.*440del (n.*440del)
c.362del (p.Tyr121PhefsTer3)
c.*564del (n.*564del)
c.602del (p.Tyr201PhefsTer3)
c.*429del (n.*429del)
gnomAD v4
8g.43122468A=CA1779747488POMKc.644A= (p.Tyr215=)
c.*440A= (n.*440A=)
c.362A= (p.Tyr121=)
c.*564A= (n.*564A=)
c.602A= (p.Tyr201=)
c.*429A= (n.*429A=)
8g.43122468A>CCA371122350POMKc.644A>C (p.Tyr215Ser)
c.*440A>C (n.*440A>C)
c.362A>C (p.Tyr121Ser)
c.*564A>C (n.*564A>C)
c.602A>C (p.Tyr201Ser)
c.*429A>C (n.*429A>C)
8g.43122468A>GCA371122351POMKc.644A>G (p.Tyr215Cys)
c.*440A>G (n.*440A>G)
c.362A>G (p.Tyr121Cys)
c.*564A>G (n.*564A>G)
c.602A>G (p.Tyr201Cys)
c.*429A>G (n.*429A>G)
8g.43122468A>TCA371122352POMKc.644A>T (p.Tyr215Phe)
c.*440A>T (n.*440A>T)
c.362A>T (p.Tyr121Phe)
c.*564A>T (n.*564A>T)
c.602A>T (p.Tyr201Phe)
c.*429A>T (n.*429A>T)
dbSNP
8g.43122469T>ACA371122353POMKc.645T>A (p.Tyr215Ter)
c.*441T>A (n.*441T>A)
c.363T>A (p.Tyr121Ter)
c.*565T>A (n.*565T>A)
c.603T>A (p.Tyr201Ter)
c.*430T>A (n.*430T>A)
8g.43122469T>CCA460787254POMKc.645T>C (p.Tyr215=)
c.*441T>C (n.*441T>C)
c.363T>C (p.Tyr121=)
c.*565T>C (n.*565T>C)
c.603T>C (p.Tyr201=)
c.*430T>C (n.*430T>C)
dbSNP
8g.43122469T>GCA371122354POMKc.645T>G (p.Tyr215Ter)
c.*441T>G (n.*441T>G)
c.363T>G (p.Tyr121Ter)
c.*565T>G (n.*565T>G)
c.603T>G (p.Tyr201Ter)
c.*430T>G (n.*430T>G)
ClinVar
8g.43122469T=CA1779747490POMKc.645T= (p.Tyr215=)
c.*441T= (n.*441T=)
c.363T= (p.Tyr121=)
c.*565T= (n.*565T=)
c.603T= (p.Tyr201=)
c.*430T= (n.*430T=)
8g.43122470C>ACA371122355POMKc.646C>A (p.Leu216Met)
c.*442C>A (n.*442C>A)
c.364C>A (p.Leu122Met)
c.*566C>A (n.*566C>A)
c.604C>A (p.Leu202Met)
c.*431C>A (n.*431C>A)
8g.43122470C>GCA371122356POMKc.646C>G (p.Leu216Val)
c.*442C>G (n.*442C>G)
c.364C>G (p.Leu122Val)
c.*566C>G (n.*566C>G)
c.604C>G (p.Leu202Val)
c.*431C>G (n.*431C>G)
8g.43122470C>TCA460787255POMKc.646C>T (p.Leu216=)
c.*442C>T (n.*442C>T)
c.364C>T (p.Leu122=)
c.*566C>T (n.*566C>T)
c.604C>T (p.Leu202=)
c.*431C>T (n.*431C>T)
8g.43122471T>ACA371122357POMKc.647T>A (p.Leu216Gln)
c.*443T>A (n.*443T>A)
c.365T>A (p.Leu122Gln)
c.*567T>A (n.*567T>A)
c.605T>A (p.Leu202Gln)
c.*432T>A (n.*432T>A)
8g.43122471T>CCA371122358POMKc.647T>C (p.Leu216Pro)
c.*443T>C (n.*443T>C)
c.365T>C (p.Leu122Pro)
c.*567T>C (n.*567T>C)
c.605T>C (p.Leu202Pro)
c.*432T>C (n.*432T>C)
8g.43122471T>GCA371122359POMKc.647T>G (p.Leu216Arg)
c.*443T>G (n.*443T>G)
c.365T>G (p.Leu122Arg)
c.*567T>G (n.*567T>G)
c.605T>G (p.Leu202Arg)
c.*432T>G (n.*432T>G)
gnomAD v4
8g.43122472G>ACA460787256POMKc.648G>A (p.Leu216=)
c.*444G>A (n.*444G>A)
c.366G>A (p.Leu122=)
c.*568G>A (n.*568G>A)
c.606G>A (p.Leu202=)
c.*433G>A (n.*433G>A)
dbSNP
8g.43122472G>CCA460787257POMKc.648G>C (p.Leu216=)
c.*444G>C (n.*444G>C)
c.366G>C (p.Leu122=)
c.*568G>C (n.*568G>C)
c.606G>C (p.Leu202=)
c.*433G>C (n.*433G>C)
8g.43122472G=CA1779747492POMKc.648G= (p.Leu216=)
c.*444G= (n.*444G=)
c.366G= (p.Leu122=)
c.*568G= (n.*568G=)
c.606G= (p.Leu202=)
c.*433G= (n.*433G=)
8g.43122472G>TCA460787258POMKc.648G>T (p.Leu216=)
c.*444G>T (n.*444G>T)
c.366G>T (p.Leu122=)
c.*568G>T (n.*568G>T)
c.606G>T (p.Leu202=)
c.*433G>T (n.*433G>T)
8g.43122473C>ACA4736331POMKc.649C>A (p.Leu217Ile)
c.*445C>A (n.*445C>A)
c.367C>A (p.Leu123Ile)
c.*569C>A (n.*569C>A)
c.607C>A (p.Leu203Ile)
c.*434C>A (n.*434C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122473C=CA1779747496POMKc.649C= (p.Leu217=)
c.*445C= (n.*445C=)
c.367C= (p.Leu123=)
c.*569C= (n.*569C=)
c.607C= (p.Leu203=)
c.*434C= (n.*434C=)
8g.43122473C>GCA371122360POMKc.649C>G (p.Leu217Val)
c.*445C>G (n.*445C>G)
c.367C>G (p.Leu123Val)
c.*569C>G (n.*569C>G)
c.607C>G (p.Leu203Val)
c.*434C>G (n.*434C>G)
gnomAD v4
8g.43122473C>TCA460787259POMKc.649C>T (p.Leu217=)
c.*445C>T (n.*445C>T)
c.367C>T (p.Leu123=)
c.*569C>T (n.*569C>T)
c.607C>T (p.Leu203=)
c.*434C>T (n.*434C>T)
gnomAD v4
8g.43122474delCA2687148409POMKc.650del (p.Leu217GlnfsTer18)
c.*446del (n.*446del)
c.368del (p.Leu123GlnfsTer18)
c.*570del (n.*570del)
c.608del (p.Leu203GlnfsTer18)
c.*435del (n.*435del)
gnomAD v4
8g.43122474T>ACA371122363POMKc.650T>A (p.Leu217Gln)
c.*446T>A (n.*446T>A)
c.368T>A (p.Leu123Gln)
c.*570T>A (n.*570T>A)
c.608T>A (p.Leu203Gln)
c.*435T>A (n.*435T>A)
8g.43122474T>CCA371122362POMKc.650T>C (p.Leu217Pro)
c.*446T>C (n.*446T>C)
c.368T>C (p.Leu123Pro)
c.*570T>C (n.*570T>C)
c.608T>C (p.Leu203Pro)
c.*435T>C (n.*435T>C)
8g.43122474T>GCA371122361POMKc.650T>G (p.Leu217Arg)
c.*446T>G (n.*446T>G)
c.368T>G (p.Leu123Arg)
c.*570T>G (n.*570T>G)
c.608T>G (p.Leu203Arg)
c.*435T>G (n.*435T>G)
8g.43122475A>CCA460787260POMKc.651A>C (p.Leu217=)
c.*447A>C (n.*447A>C)
c.369A>C (p.Leu123=)
c.*571A>C (n.*571A>C)
c.609A>C (p.Leu203=)
c.*436A>C (n.*436A>C)
8g.43122475A>GCA460787261POMKc.651A>G (p.Leu217=)
c.*447A>G (n.*447A>G)
c.369A>G (p.Leu123=)
c.*571A>G (n.*571A>G)
c.609A>G (p.Leu203=)
c.*436A>G (n.*436A>G)
8g.43122475A>TCA460787262POMKc.651A>T (p.Leu217=)
c.*447A>T (n.*447A>T)
c.369A>T (p.Leu123=)
c.*571A>T (n.*571A>T)
c.609A>T (p.Leu203=)
c.*436A>T (n.*436A>T)
8g.43122476A>CCA371122364POMKc.652A>C (p.Thr218Pro)
c.*448A>C (n.*448A>C)
c.370A>C (p.Thr124Pro)
c.*572A>C (n.*572A>C)
c.610A>C (p.Thr204Pro)
c.*437A>C (n.*437A>C)
8g.43122476A>GCA371122365POMKc.652A>G (p.Thr218Ala)
c.*448A>G (n.*448A>G)
c.370A>G (p.Thr124Ala)
c.*572A>G (n.*572A>G)
c.610A>G (p.Thr204Ala)
c.*437A>G (n.*437A>G)
8g.43122476A>TCA371122366POMKc.652A>T (p.Thr218Ser)
c.*448A>T (n.*448A>T)
c.370A>T (p.Thr124Ser)
c.*572A>T (n.*572A>T)
c.610A>T (p.Thr204Ser)
c.*437A>T (n.*437A>T)
8g.43122477C>ACA4736332POMKc.653C>A (p.Thr218Lys)
c.*449C>A (n.*449C>A)
c.371C>A (p.Thr124Lys)
c.*573C>A (n.*573C>A)
c.611C>A (p.Thr204Lys)
c.*438C>A (n.*438C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122477C=CA1779747500POMKc.653C= (p.Thr218=)
c.*449C= (n.*449C=)
c.371C= (p.Thr124=)
c.*573C= (n.*573C=)
c.611C= (p.Thr204=)
c.*438C= (n.*438C=)
8g.43122477C>GCA371122367POMKc.653C>G (p.Thr218Arg)
c.*449C>G (n.*449C>G)
c.371C>G (p.Thr124Arg)
c.*573C>G (n.*573C>G)
c.611C>G (p.Thr204Arg)
c.*438C>G (n.*438C>G)
8g.43122477C>TCA4736333POMKc.653C>T (p.Thr218Ile)
c.*449C>T (n.*449C>T)
c.371C>T (p.Thr124Ile)
c.*573C>T (n.*573C>T)
c.611C>T (p.Thr204Ile)
c.*438C>T (n.*438C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122478A>CCA460787263POMKc.654A>C (p.Thr218=)
c.*450A>C (n.*450A>C)
c.372A>C (p.Thr124=)
c.*574A>C (n.*574A>C)
c.612A>C (p.Thr204=)
c.*439A>C (n.*439A>C)
8g.43122478A>GCA460787264POMKc.654A>G (p.Thr218=)
c.*450A>G (n.*450A>G)
c.372A>G (p.Thr124=)
c.*574A>G (n.*574A>G)
c.612A>G (p.Thr204=)
c.*439A>G (n.*439A>G)
gnomAD v4
8g.43122478A>TCA460787265POMKc.654A>T (p.Thr218=)
c.*450A>T (n.*450A>T)
c.372A>T (p.Thr124=)
c.*574A>T (n.*574A>T)
c.612A>T (p.Thr204=)
c.*439A>T (n.*439A>T)
8g.43122479A>CCA371122368POMKc.655A>C (p.Ser219Arg)
c.*451A>C (n.*451A>C)
c.373A>C (p.Ser125Arg)
c.*575A>C (n.*575A>C)
c.613A>C (p.Ser205Arg)
c.*440A>C (n.*440A>C)
8g.43122479A>GCA371122370POMKc.655A>G (p.Ser219Gly)
c.*451A>G (n.*451A>G)
c.373A>G (p.Ser125Gly)
c.*575A>G (n.*575A>G)
c.613A>G (p.Ser205Gly)
c.*440A>G (n.*440A>G)
8g.43122479A>TCA371122369POMKc.655A>T (p.Ser219Cys)
c.*451A>T (n.*451A>T)
c.373A>T (p.Ser125Cys)
c.*575A>T (n.*575A>T)
c.613A>T (p.Ser205Cys)
c.*440A>T (n.*440A>T)
8g.43122480G>ACA371122371POMKc.656G>A (p.Ser219Asn)
c.*452G>A (n.*452G>A)
c.374G>A (p.Ser125Asn)
c.*576G>A (n.*576G>A)
c.614G>A (p.Ser205Asn)
c.*441G>A (n.*441G>A)
8g.43122480G>CCA371122372POMKc.656G>C (p.Ser219Thr)
c.*452G>C (n.*452G>C)
c.374G>C (p.Ser125Thr)
c.*576G>C (n.*576G>C)
c.614G>C (p.Ser205Thr)
c.*441G>C (n.*441G>C)
8g.43122480G>TCA371122373POMKc.656G>T (p.Ser219Ile)
c.*452G>T (n.*452G>T)
c.374G>T (p.Ser125Ile)
c.*576G>T (n.*576G>T)
c.614G>T (p.Ser205Ile)
c.*441G>T (n.*441G>T)
8g.43122481C>ACA371122374POMKc.657C>A (p.Ser219Arg)
c.*453C>A (n.*453C>A)
c.375C>A (p.Ser125Arg)
c.*577C>A (n.*577C>A)
c.615C>A (p.Ser205Arg)
c.*442C>A (n.*442C>A)
ClinVar dbSNP
8g.43122481C=CA1779747503POMKc.657C= (p.Ser219=)
c.*453C= (n.*453C=)
c.375C= (p.Ser125=)
c.*577C= (n.*577C=)
c.615C= (p.Ser205=)
c.*442C= (n.*442C=)
8g.43122481C>GCA371122375POMKc.657C>G (p.Ser219Arg)
c.*453C>G (n.*453C>G)
c.375C>G (p.Ser125Arg)
c.*577C>G (n.*577C>G)
c.615C>G (p.Ser205Arg)
c.*442C>G (n.*442C>G)
8g.43122481C>TCA460787266POMKc.657C>T (p.Ser219=)
c.*453C>T (n.*453C>T)
c.375C>T (p.Ser125=)
c.*577C>T (n.*577C>T)
c.615C>T (p.Ser205=)
c.*442C>T (n.*442C>T)
8g.43122482A=CA1779747507POMKc.658A= (p.Asn220=)
c.*454A= (n.*454A=)
c.376A= (p.Asn126=)
c.*578A= (n.*578A=)
c.616A= (p.Asn206=)
c.*443A= (n.*443A=)
8g.43122482A>CCA371122376POMKc.658A>C (p.Asn220His)
c.*454A>C (n.*454A>C)
c.376A>C (p.Asn126His)
c.*578A>C (n.*578A>C)
c.616A>C (p.Asn206His)
c.*443A>C (n.*443A>C)
8g.43122482A>GCA371122377POMKc.658A>G (p.Asn220Asp)
c.*454A>G (n.*454A>G)
c.376A>G (p.Asn126Asp)
c.*578A>G (n.*578A>G)
c.616A>G (p.Asn206Asp)
c.*443A>G (n.*443A>G)
dbSNP
8g.43122482A>TCA371122378POMKc.658A>T (p.Asn220Tyr)
c.*454A>T (n.*454A>T)
c.376A>T (p.Asn126Tyr)
c.*578A>T (n.*578A>T)
c.616A>T (p.Asn206Tyr)
c.*443A>T (n.*443A>T)
8g.43122483A>CCA371122379POMKc.659A>C (p.Asn220Thr)
c.*455A>C (n.*455A>C)
c.377A>C (p.Asn126Thr)
c.*579A>C (n.*579A>C)
c.617A>C (p.Asn206Thr)
c.*444A>C (n.*444A>C)
8g.43122483A>GCA371122380POMKc.659A>G (p.Asn220Ser)
c.*455A>G (n.*455A>G)
c.377A>G (p.Asn126Ser)
c.*579A>G (n.*579A>G)
c.617A>G (p.Asn206Ser)
c.*444A>G (n.*444A>G)
8g.43122483A>TCA371122381POMKc.659A>T (p.Asn220Ile)
c.*455A>T (n.*455A>T)
c.377A>T (p.Asn126Ile)
c.*579A>T (n.*579A>T)
c.617A>T (p.Asn206Ile)
c.*444A>T (n.*444A>T)
8g.43122484C>ACA371122383POMKc.660C>A (p.Asn220Lys)
c.*456C>A (n.*456C>A)
c.378C>A (p.Asn126Lys)
c.*580C>A (n.*580C>A)
c.618C>A (p.Asn206Lys)
c.*445C>A (n.*445C>A)
8g.43122484C=CA1779747511POMKc.660C= (p.Asn220=)
c.*456C= (n.*456C=)
c.378C= (p.Asn126=)
c.*580C= (n.*580C=)
c.618C= (p.Asn206=)
c.*445C= (n.*445C=)
8g.43122484C>GCA371122382POMKc.660C>G (p.Asn220Lys)
c.*456C>G (n.*456C>G)
c.378C>G (p.Asn126Lys)
c.*580C>G (n.*580C>G)
c.618C>G (p.Asn206Lys)
c.*445C>G (n.*445C>G)
8g.43122484C>TCA460787267POMKc.660C>T (p.Asn220=)
c.*456C>T (n.*456C>T)
c.378C>T (p.Asn126=)
c.*580C>T (n.*580C>T)
c.618C>T (p.Asn206=)
c.*445C>T (n.*445C>T)
dbSNP gnomAD v2 gnomAD v4
8g.43122485T>ACA371122384POMKc.661T>A (p.Phe221Ile)
c.*457T>A (n.*457T>A)
c.379T>A (p.Phe127Ile)
c.*581T>A (n.*581T>A)
c.619T>A (p.Phe207Ile)
c.*446T>A (n.*446T>A)
8g.43122485T>CCA371122385POMKc.661T>C (p.Phe221Leu)
c.*457T>C (n.*457T>C)
c.379T>C (p.Phe127Leu)
c.*581T>C (n.*581T>C)
c.619T>C (p.Phe207Leu)
c.*446T>C (n.*446T>C)
ClinVar dbSNP
8g.43122485T>GCA371122386POMKc.661T>G (p.Phe221Val)
c.*457T>G (n.*457T>G)
c.379T>G (p.Phe127Val)
c.*581T>G (n.*581T>G)
c.619T>G (p.Phe207Val)
c.*446T>G (n.*446T>G)
8g.43122485T=CA1779747516POMKc.661T= (p.Phe221=)
c.*457T= (n.*457T=)
c.379T= (p.Phe127=)
c.*581T= (n.*581T=)
c.619T= (p.Phe207=)
c.*446T= (n.*446T=)
8g.43122486T>ACA371122387POMKc.662T>A (p.Phe221Tyr)
c.*458T>A (n.*458T>A)
c.380T>A (p.Phe127Tyr)
c.*582T>A (n.*582T>A)
c.620T>A (p.Phe207Tyr)
c.*447T>A (n.*447T>A)
8g.43122486T>CCA176080209POMKc.662T>C (p.Phe221Ser)
c.*458T>C (n.*458T>C)
c.380T>C (p.Phe127Ser)
c.*582T>C (n.*582T>C)
c.620T>C (p.Phe207Ser)
c.*447T>C (n.*447T>C)
dbSNP gnomAD v3 gnomAD v4
8g.43122486T>GCA371122388POMKc.662T>G (p.Phe221Cys)
c.*458T>G (n.*458T>G)
c.380T>G (p.Phe127Cys)
c.*582T>G (n.*582T>G)
c.620T>G (p.Phe207Cys)
c.*447T>G (n.*447T>G)
8g.43122486T=CA1779747521POMKc.662T= (p.Phe221=)
c.*458T= (n.*458T=)
c.380T= (p.Phe127=)
c.*582T= (n.*582T=)
c.620T= (p.Phe207=)
c.*447T= (n.*447T=)
8g.43122487C>ACA4736334POMKc.663C>A (p.Phe221Leu)
c.*459C>A (n.*459C>A)
c.381C>A (p.Phe127Leu)
c.*583C>A (n.*583C>A)
c.621C>A (p.Phe207Leu)
c.*448C>A (n.*448C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122487C=CA1779747526POMKc.663C= (p.Phe221=)
c.*459C= (n.*459C=)
c.381C= (p.Phe127=)
c.*583C= (n.*583C=)
c.621C= (p.Phe207=)
c.*448C= (n.*448C=)
8g.43122487C>GCA371122389POMKc.663C>G (p.Phe221Leu)
c.*459C>G (n.*459C>G)
c.381C>G (p.Phe127Leu)
c.*583C>G (n.*583C>G)
c.621C>G (p.Phe207Leu)
c.*448C>G (n.*448C>G)
8g.43122487C>TCA176080216POMKc.663C>T (p.Phe221=)
c.*459C>T (n.*459C>T)
c.381C>T (p.Phe127=)
c.*583C>T (n.*583C>T)
c.621C>T (p.Phe207=)
c.*448C>T (n.*448C>T)
dbSNP gnomAD v3 gnomAD v4
8g.43122488A>CCA371122390POMKc.664A>C (p.Ser222Arg)
c.*460A>C (n.*460A>C)
c.382A>C (p.Ser128Arg)
c.*584A>C (n.*584A>C)
c.622A>C (p.Ser208Arg)
c.*449A>C (n.*449A>C)
8g.43122488A>GCA371122391POMKc.664A>G (p.Ser222Gly)
c.*460A>G (n.*460A>G)
c.382A>G (p.Ser128Gly)
c.*584A>G (n.*584A>G)
c.622A>G (p.Ser208Gly)
c.*449A>G (n.*449A>G)
gnomAD v4
8g.43122488A>TCA371122392POMKc.664A>T (p.Ser222Cys)
c.*460A>T (n.*460A>T)
c.382A>T (p.Ser128Cys)
c.*584A>T (n.*584A>T)
c.622A>T (p.Ser208Cys)
c.*449A>T (n.*449A>T)
8g.43122489G>ACA371122393POMKc.665G>A (p.Ser222Asn)
c.*461G>A (n.*461G>A)
c.383G>A (p.Ser128Asn)
c.*585G>A (n.*585G>A)
c.623G>A (p.Ser208Asn)
c.*450G>A (n.*450G>A)
8g.43122489G>CCA371122394POMKc.665G>C (p.Ser222Thr)
c.*461G>C (n.*461G>C)
c.383G>C (p.Ser128Thr)
c.*585G>C (n.*585G>C)
c.623G>C (p.Ser208Thr)
c.*450G>C (n.*450G>C)
8g.43122489G>TCA371122395POMKc.665G>T (p.Ser222Ile)
c.*461G>T (n.*461G>T)
c.383G>T (p.Ser128Ile)
c.*585G>T (n.*585G>T)
c.623G>T (p.Ser208Ile)
c.*450G>T (n.*450G>T)
8g.43122490C>ACA371122397POMKc.666C>A (p.Ser222Arg)
c.*462C>A (n.*462C>A)
c.384C>A (p.Ser128Arg)
c.*586C>A (n.*586C>A)
c.624C>A (p.Ser208Arg)
c.*451C>A (n.*451C>A)
8g.43122490C>GCA371122396POMKc.666C>G (p.Ser222Arg)
c.*462C>G (n.*462C>G)
c.384C>G (p.Ser128Arg)
c.*586C>G (n.*586C>G)
c.624C>G (p.Ser208Arg)
c.*451C>G (n.*451C>G)
8g.43122490C>TCA460787268POMKc.666C>T (p.Ser222=)
c.*462C>T (n.*462C>T)
c.384C>T (p.Ser128=)
c.*586C>T (n.*586C>T)
c.624C>T (p.Ser208=)
c.*451C>T (n.*451C>T)
8g.43122491A>CCA371122398POMKc.667A>C (p.Ile223Leu)
c.*463A>C (n.*463A>C)
c.385A>C (p.Ile129Leu)
c.*587A>C (n.*587A>C)
c.625A>C (p.Ile209Leu)
c.*452A>C (n.*452A>C)
8g.43122491A>GCA371122399POMKc.667A>G (p.Ile223Val)
c.*463A>G (n.*463A>G)
c.385A>G (p.Ile129Val)
c.*587A>G (n.*587A>G)
c.625A>G (p.Ile209Val)
c.*452A>G (n.*452A>G)
ClinVar gnomAD v4
8g.43122491A>TCA371122400POMKc.667A>T (p.Ile223Phe)
c.*463A>T (n.*463A>T)
c.385A>T (p.Ile129Phe)
c.*587A>T (n.*587A>T)
c.625A>T (p.Ile209Phe)
c.*452A>T (n.*452A>T)
8g.43122492T>ACA371122401POMKc.668T>A (p.Ile223Asn)
c.*464T>A (n.*464T>A)
c.386T>A (p.Ile129Asn)
c.*588T>A (n.*588T>A)
c.626T>A (p.Ile209Asn)
c.*453T>A (n.*453T>A)
8g.43122492T>CCA371122402POMKc.668T>C (p.Ile223Thr)
c.*464T>C (n.*464T>C)
c.386T>C (p.Ile129Thr)
c.*588T>C (n.*588T>C)
c.626T>C (p.Ile209Thr)
c.*453T>C (n.*453T>C)
8g.43122492T>GCA371122403POMKc.668T>G (p.Ile223Ser)
c.*464T>G (n.*464T>G)
c.386T>G (p.Ile129Ser)
c.*588T>G (n.*588T>G)
c.626T>G (p.Ile209Ser)
c.*453T>G (n.*453T>G)
8g.43122493T>ACA460787283POMKc.669T>A (p.Ile223=)
c.*465T>A (n.*465T>A)
c.387T>A (p.Ile129=)
c.*589T>A (n.*589T>A)
c.627T>A (p.Ile209=)
c.*454T>A (n.*454T>A)
8g.43122493T>CCA460787284POMKc.669T>C (p.Ile223=)
c.*465T>C (n.*465T>C)
c.387T>C (p.Ile129=)
c.*589T>C (n.*589T>C)
c.627T>C (p.Ile209=)
c.*454T>C (n.*454T>C)
8g.43122493T>GCA371122404POMKc.669T>G (p.Ile223Met)
c.*465T>G (n.*465T>G)
c.387T>G (p.Ile129Met)
c.*589T>G (n.*589T>G)
c.627T>G (p.Ile209Met)
c.*454T>G (n.*454T>G)
8g.43122494T>ACA371122405POMKc.670T>A (p.Leu224Met)
c.*466T>A (n.*466T>A)
c.388T>A (p.Leu130Met)
c.*590T>A (n.*590T>A)
c.628T>A (p.Leu210Met)
c.*455T>A (n.*455T>A)
8g.43122494T>CCA460787285POMKc.670T>C (p.Leu224=)
c.*466T>C (n.*466T>C)
c.388T>C (p.Leu130=)
c.*590T>C (n.*590T>C)
c.628T>C (p.Leu210=)
c.*455T>C (n.*455T>C)
8g.43122494T>GCA371122406POMKc.670T>G (p.Leu224Val)
c.*466T>G (n.*466T>G)
c.388T>G (p.Leu130Val)
c.*590T>G (n.*590T>G)
c.628T>G (p.Leu210Val)
c.*455T>G (n.*455T>G)
8g.43122495T>ACA371122407POMKc.671T>A (p.Leu224Ter)
c.*467T>A (n.*467T>A)
c.389T>A (p.Leu130Ter)
c.*591T>A (n.*591T>A)
c.629T>A (p.Leu210Ter)
c.*456T>A (n.*456T>A)
8g.43122495T>CCA371122408POMKc.671T>C (p.Leu224Ser)
c.*467T>C (n.*467T>C)
c.389T>C (p.Leu130Ser)
c.*591T>C (n.*591T>C)
c.629T>C (p.Leu210Ser)
c.*456T>C (n.*456T>C)
8g.43122495T>GCA371122409POMKc.671T>G (p.Leu224Trp)
c.*467T>G (n.*467T>G)
c.389T>G (p.Leu130Trp)
c.*591T>G (n.*591T>G)
c.629T>G (p.Leu210Trp)
c.*456T>G (n.*456T>G)
8g.43122496G>ACA460787289POMKc.672G>A (p.Leu224=)
c.*468G>A (n.*468G>A)
c.390G>A (p.Leu130=)
c.*592G>A (n.*592G>A)
c.630G>A (p.Leu210=)
c.*457G>A (n.*457G>A)
8g.43122496G>CCA371122410POMKc.672G>C (p.Leu224Phe)
c.*468G>C (n.*468G>C)
c.390G>C (p.Leu130Phe)
c.*592G>C (n.*592G>C)
c.630G>C (p.Leu210Phe)
c.*457G>C (n.*457G>C)
8g.43122496G>TCA371122411POMKc.672G>T (p.Leu224Phe)
c.*468G>T (n.*468G>T)
c.390G>T (p.Leu130Phe)
c.*592G>T (n.*592G>T)
c.630G>T (p.Leu210Phe)
c.*457G>T (n.*457G>T)
gnomAD v4
8g.43122497G>ACA371122412POMKc.673G>A (p.Ala225Thr)
c.*469G>A (n.*469G>A)
c.391G>A (p.Ala131Thr)
c.*593G>A (n.*593G>A)
c.631G>A (p.Ala211Thr)
c.*458G>A (n.*458G>A)
COSMIC
8g.43122497G>CCA371122414POMKc.673G>C (p.Ala225Pro)
c.*469G>C (n.*469G>C)
c.391G>C (p.Ala131Pro)
c.*593G>C (n.*593G>C)
c.631G>C (p.Ala211Pro)
c.*458G>C (n.*458G>C)
8g.43122497G>TCA371122413POMKc.673G>T (p.Ala225Ser)
c.*469G>T (n.*469G>T)
c.391G>T (p.Ala131Ser)
c.*593G>T (n.*593G>T)
c.631G>T (p.Ala211Ser)
c.*458G>T (n.*458G>T)
gnomAD v4
8g.43122498C>ACA371122415POMKc.674C>A (p.Ala225Glu)
c.*470C>A (n.*470C>A)
c.392C>A (p.Ala131Glu)
c.*594C>A (n.*594C>A)
c.632C>A (p.Ala211Glu)
c.*459C>A (n.*459C>A)
8g.43122498C=CA1779747529POMKc.674C= (p.Ala225=)
c.*470C= (n.*470C=)
c.392C= (p.Ala131=)
c.*594C= (n.*594C=)
c.632C= (p.Ala211=)
c.*459C= (n.*459C=)
8g.43122498C>GCA371122416POMKc.674C>G (p.Ala225Gly)
c.*470C>G (n.*470C>G)
c.392C>G (p.Ala131Gly)
c.*594C>G (n.*594C>G)
c.632C>G (p.Ala211Gly)
c.*459C>G (n.*459C>G)
8g.43122498C>TCA4736335POMKc.674C>T (p.Ala225Val)
c.*470C>T (n.*470C>T)
c.392C>T (p.Ala131Val)
c.*594C>T (n.*594C>T)
c.632C>T (p.Ala211Val)
c.*459C>T (n.*459C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122499A>CCA460787297POMKc.675A>C (p.Ala225=)
c.*471A>C (n.*471A>C)
c.393A>C (p.Ala131=)
c.*595A>C (n.*595A>C)
c.633A>C (p.Ala211=)
c.*460A>C (n.*460A>C)
8g.43122499A>GCA460787299POMKc.675A>G (p.Ala225=)
c.*471A>G (n.*471A>G)
c.393A>G (p.Ala131=)
c.*595A>G (n.*595A>G)
c.633A>G (p.Ala211=)
c.*460A>G (n.*460A>G)
8g.43122499A>TCA460787301POMKc.675A>T (p.Ala225=)
c.*471A>T (n.*471A>T)
c.393A>T (p.Ala131=)
c.*595A>T (n.*595A>T)
c.633A>T (p.Ala211=)
c.*460A>T (n.*460A>T)
8g.43122500A=CA1779747531POMKc.676A= (p.Asn226=)
c.*472A= (n.*472A=)
c.394A= (p.Asn132=)
c.*596A= (n.*596A=)
c.634A= (p.Asn212=)
c.*461A= (n.*461A=)
8g.43122500A>CCA371122417POMKc.676A>C (p.Asn226His)
c.*472A>C (n.*472A>C)
c.394A>C (p.Asn132His)
c.*596A>C (n.*596A>C)
c.634A>C (p.Asn212His)
c.*461A>C (n.*461A>C)
8g.43122500A>GCA371122418POMKc.676A>G (p.Asn226Asp)
c.*472A>G (n.*472A>G)
c.394A>G (p.Asn132Asp)
c.*596A>G (n.*596A>G)
c.634A>G (p.Asn212Asp)
c.*461A>G (n.*461A>G)
dbSNP
8g.43122500A>TCA371122419POMKc.676A>T (p.Asn226Tyr)
c.*472A>T (n.*472A>T)
c.394A>T (p.Asn132Tyr)
c.*596A>T (n.*596A>T)
c.634A>T (p.Asn212Tyr)
c.*461A>T (n.*461A>T)
8g.43122501A>CCA371122420POMKc.677A>C (p.Asn226Thr)
c.*473A>C (n.*473A>C)
c.395A>C (p.Asn132Thr)
c.*597A>C (n.*597A>C)
c.635A>C (p.Asn212Thr)
c.*462A>C (n.*462A>C)
8g.43122501A>GCA371122421POMKc.677A>G (p.Asn226Ser)
c.*473A>G (n.*473A>G)
c.395A>G (p.Asn132Ser)
c.*597A>G (n.*597A>G)
c.635A>G (p.Asn212Ser)
c.*462A>G (n.*462A>G)
8g.43122501A>TCA371122422POMKc.677A>T (p.Asn226Ile)
c.*473A>T (n.*473A>T)
c.395A>T (p.Asn132Ile)
c.*597A>T (n.*597A>T)
c.635A>T (p.Asn212Ile)
c.*462A>T (n.*462A>T)
gnomAD v4
8g.43122502T>ACA371122423POMKc.678T>A (p.Asn226Lys)
c.*474T>A (n.*474T>A)
c.396T>A (p.Asn132Lys)
c.*598T>A (n.*598T>A)
c.636T>A (p.Asn212Lys)
c.*463T>A (n.*463T>A)
8g.43122502T>CCA460787308POMKc.678T>C (p.Asn226=)
c.*474T>C (n.*474T>C)
c.396T>C (p.Asn132=)
c.*598T>C (n.*598T>C)
c.636T>C (p.Asn212=)
c.*463T>C (n.*463T>C)
8g.43122502T>GCA371122424POMKc.678T>G (p.Asn226Lys)
c.*474T>G (n.*474T>G)
c.396T>G (p.Asn132Lys)
c.*598T>G (n.*598T>G)
c.636T>G (p.Asn212Lys)
c.*463T>G (n.*463T>G)
8g.43122503G>ACA371122425POMKc.679G>A (p.Asp227Asn)
c.*475G>A (n.*475G>A)
c.397G>A (p.Asp133Asn)
c.*599G>A (n.*599G>A)
c.637G>A (p.Asp213Asn)
c.*464G>A (n.*464G>A)
8g.43122503G>CCA371122426POMKc.679G>C (p.Asp227His)
c.*475G>C (n.*475G>C)
c.397G>C (p.Asp133His)
c.*599G>C (n.*599G>C)
c.637G>C (p.Asp213His)
c.*464G>C (n.*464G>C)
8g.43122503G>TCA371122427POMKc.679G>T (p.Asp227Tyr)
c.*475G>T (n.*475G>T)
c.397G>T (p.Asp133Tyr)
c.*599G>T (n.*599G>T)
c.637G>T (p.Asp213Tyr)
c.*464G>T (n.*464G>T)
8g.43122504A>CCA371122430POMKc.680A>C (p.Asp227Ala)
c.*476A>C (n.*476A>C)
c.398A>C (p.Asp133Ala)
c.*600A>C (n.*600A>C)
c.638A>C (p.Asp213Ala)
c.*465A>C (n.*465A>C)
8g.43122504A>GCA371122428POMKc.680A>G (p.Asp227Gly)
c.*476A>G (n.*476A>G)
c.398A>G (p.Asp133Gly)
c.*600A>G (n.*600A>G)
c.638A>G (p.Asp213Gly)
c.*465A>G (n.*465A>G)
8g.43122504A>TCA371122429POMKc.680A>T (p.Asp227Val)
c.*476A>T (n.*476A>T)
c.398A>T (p.Asp133Val)
c.*600A>T (n.*600A>T)
c.638A>T (p.Asp213Val)
c.*465A>T (n.*465A>T)
8g.43122505C>ACA371122431POMKc.681C>A (p.Asp227Glu)
c.*477C>A (n.*477C>A)
c.399C>A (p.Asp133Glu)
c.*601C>A (n.*601C>A)
c.639C>A (p.Asp213Glu)
c.*466C>A (n.*466C>A)
8g.43122505C=CA1779747536POMKc.681C= (p.Asp227=)
c.*477C= (n.*477C=)
c.399C= (p.Asp133=)
c.*601C= (n.*601C=)
c.639C= (p.Asp213=)
c.*466C= (n.*466C=)
8g.43122505C>GCA371122432POMKc.681C>G (p.Asp227Glu)
c.*477C>G (n.*477C>G)
c.399C>G (p.Asp133Glu)
c.*601C>G (n.*601C>G)
c.639C>G (p.Asp213Glu)
c.*466C>G (n.*466C>G)
dbSNP
8g.43122505C>TCA4736336POMKc.681C>T (p.Asp227=)
c.*477C>T (n.*477C>T)
c.399C>T (p.Asp133=)
c.*601C>T (n.*601C>T)
c.639C>T (p.Asp213=)
c.*466C>T (n.*466C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122506T>ACA371122433POMKc.682T>A (p.Leu228Met)
c.*478T>A (n.*478T>A)
c.400T>A (p.Leu134Met)
c.*602T>A (n.*602T>A)
c.640T>A (p.Leu214Met)
c.*467T>A (n.*467T>A)
8g.43122506T>CCA460787312POMKc.682T>C (p.Leu228=)
c.*478T>C (n.*478T>C)
c.400T>C (p.Leu134=)
c.*602T>C (n.*602T>C)
c.640T>C (p.Leu214=)
c.*467T>C (n.*467T>C)
gnomAD v4
8g.43122506T>GCA371122434POMKc.682T>G (p.Leu228Val)
c.*478T>G (n.*478T>G)
c.400T>G (p.Leu134Val)
c.*602T>G (n.*602T>G)
c.640T>G (p.Leu214Val)
c.*467T>G (n.*467T>G)
gnomAD v4
8g.43122507T>ACA371122435POMKc.683T>A (p.Leu228Ter)
c.*479T>A (n.*479T>A)
c.401T>A (p.Leu134Ter)
c.*603T>A (n.*603T>A)
c.641T>A (p.Leu214Ter)
c.*468T>A (n.*468T>A)
8g.43122507T>CCA371122436POMKc.683T>C (p.Leu228Ser)
c.*479T>C (n.*479T>C)
c.401T>C (p.Leu134Ser)
c.*603T>C (n.*603T>C)
c.641T>C (p.Leu214Ser)
c.*468T>C (n.*468T>C)
8g.43122507T>GCA371122437POMKc.683T>G (p.Leu228Trp)
c.*479T>G (n.*479T>G)
c.401T>G (p.Leu134Trp)
c.*603T>G (n.*603T>G)
c.641T>G (p.Leu214Trp)
c.*468T>G (n.*468T>G)
8g.43122508G>ACA460787317POMKc.684G>A (p.Leu228=)
c.*480G>A (n.*480G>A)
c.402G>A (p.Leu134=)
c.*604G>A (n.*604G>A)
c.642G>A (p.Leu214=)
c.*469G>A (n.*469G>A)
8g.43122508G>CCA371122438POMKc.684G>C (p.Leu228Phe)
c.*480G>C (n.*480G>C)
c.402G>C (p.Leu134Phe)
c.*604G>C (n.*604G>C)
c.642G>C (p.Leu214Phe)
c.*469G>C (n.*469G>C)
8g.43122508G>TCA371122439POMKc.684G>T (p.Leu228Phe)
c.*480G>T (n.*480G>T)
c.402G>T (p.Leu134Phe)
c.*604G>T (n.*604G>T)
c.642G>T (p.Leu214Phe)
c.*469G>T (n.*469G>T)
8g.43122509G>ACA371122441POMKc.685G>A (p.Asp229Asn)
c.*481G>A (n.*481G>A)
c.403G>A (p.Asp135Asn)
c.*605G>A (n.*605G>A)
c.643G>A (p.Asp215Asn)
c.*470G>A (n.*470G>A)
8g.43122509G>CCA371122442POMKc.685G>C (p.Asp229His)
c.*481G>C (n.*481G>C)
c.403G>C (p.Asp135His)
c.*605G>C (n.*605G>C)
c.643G>C (p.Asp215His)
c.*470G>C (n.*470G>C)
8g.43122509G>TCA371122440POMKc.685G>T (p.Asp229Tyr)
c.*481G>T (n.*481G>T)
c.403G>T (p.Asp135Tyr)
c.*605G>T (n.*605G>T)
c.643G>T (p.Asp215Tyr)
c.*470G>T (n.*470G>T)
gnomAD v4
8g.43122510A>CCA371122443POMKc.686A>C (p.Asp229Ala)
c.*482A>C (n.*482A>C)
c.404A>C (p.Asp135Ala)
c.*606A>C (n.*606A>C)
c.644A>C (p.Asp215Ala)
c.*471A>C (n.*471A>C)
8g.43122510A>GCA371122444POMKc.686A>G (p.Asp229Gly)
c.*482A>G (n.*482A>G)
c.404A>G (p.Asp135Gly)
c.*606A>G (n.*606A>G)
c.644A>G (p.Asp215Gly)
c.*471A>G (n.*471A>G)
8g.43122510A>TCA371122445POMKc.686A>T (p.Asp229Val)
c.*482A>T (n.*482A>T)
c.404A>T (p.Asp135Val)
c.*606A>T (n.*606A>T)
c.644A>T (p.Asp215Val)
c.*471A>T (n.*471A>T)
8g.43122511C>ACA371122446POMKc.687C>A (p.Asp229Glu)
c.*483C>A (n.*483C>A)
c.405C>A (p.Asp135Glu)
c.*607C>A (n.*607C>A)
c.645C>A (p.Asp215Glu)
c.*472C>A (n.*472C>A)
8g.43122511C=CA1779747545POMKc.687C= (p.Asp229=)
c.*483C= (n.*483C=)
c.405C= (p.Asp135=)
c.*607C= (n.*607C=)
c.645C= (p.Asp215=)
c.*472C= (n.*472C=)
8g.43122511C>GCA371122447POMKc.687C>G (p.Asp229Glu)
c.*483C>G (n.*483C>G)
c.405C>G (p.Asp135Glu)
c.*607C>G (n.*607C>G)
c.645C>G (p.Asp215Glu)
c.*472C>G (n.*472C>G)
8g.43122511C>TCA4736337POMKc.687C>T (p.Asp229=)
c.*483C>T (n.*483C>T)
c.405C>T (p.Asp135=)
c.*607C>T (n.*607C>T)
c.645C>T (p.Asp215=)
c.*472C>T (n.*472C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.43122512G>ACA371122449POMKc.688G>A (p.Ala230Thr)
c.*484G>A (n.*484G>A)
c.406G>A (p.Ala136Thr)
c.*608G>A (n.*608G>A)
c.646G>A (p.Ala216Thr)
c.*473G>A (n.*473G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122512G>CCA371122448POMKc.688G>C (p.Ala230Pro)
c.*484G>C (n.*484G>C)
c.406G>C (p.Ala136Pro)
c.*608G>C (n.*608G>C)
c.646G>C (p.Ala216Pro)
c.*473G>C (n.*473G>C)
gnomAD v4
8g.43122512G=CA1779747550POMKc.688G= (p.Ala230=)
c.*484G= (n.*484G=)
c.406G= (p.Ala136=)
c.*608G= (n.*608G=)
c.646G= (p.Ala216=)
c.*473G= (n.*473G=)
8g.43122512G>TCA176080255POMKc.688G>T (p.Ala230Ser)
c.*484G>T (n.*484G>T)
c.406G>T (p.Ala136Ser)
c.*608G>T (n.*608G>T)
c.646G>T (p.Ala216Ser)
c.*473G>T (n.*473G>T)
dbSNP gnomAD v3 gnomAD v4
8g.43122513C>ACA371122450POMKc.689C>A (p.Ala230Asp)
c.*485C>A (n.*485C>A)
c.407C>A (p.Ala136Asp)
c.*609C>A (n.*609C>A)
c.647C>A (p.Ala216Asp)
c.*474C>A (n.*474C>A)
8g.43122513C>GCA371122451POMKc.689C>G (p.Ala230Gly)
c.*485C>G (n.*485C>G)
c.407C>G (p.Ala136Gly)
c.*609C>G (n.*609C>G)
c.647C>G (p.Ala216Gly)
c.*474C>G (n.*474C>G)
gnomAD v4
8g.43122513C>TCA371122452POMKc.689C>T (p.Ala230Val)
c.*485C>T (n.*485C>T)
c.407C>T (p.Ala136Val)
c.*609C>T (n.*609C>T)
c.647C>T (p.Ala216Val)
c.*474C>T (n.*474C>T)
8g.43122514C>ACA460787326POMKc.690C>A (p.Ala230=)
c.*486C>A (n.*486C>A)
c.408C>A (p.Ala136=)
c.*610C>A (n.*610C>A)
c.648C>A (p.Ala216=)
c.*475C>A (n.*475C>A)
8g.43122514C=CA1779747557POMKc.690C= (p.Ala230=)
c.*486C= (n.*486C=)
c.408C= (p.Ala136=)
c.*610C= (n.*610C=)
c.648C= (p.Ala216=)
c.*475C= (n.*475C=)
8g.43122514C>GCA460787329POMKc.690C>G (p.Ala230=)
c.*486C>G (n.*486C>G)
c.408C>G (p.Ala136=)
c.*610C>G (n.*610C>G)
c.648C>G (p.Ala216=)
c.*475C>G (n.*475C>G)
8g.43122514C>TCA460787330POMKc.690C>T (p.Ala230=)
c.*486C>T (n.*486C>T)
c.408C>T (p.Ala136=)
c.*610C>T (n.*610C>T)
c.648C>T (p.Ala216=)
c.*475C>T (n.*475C>T)
dbSNP gnomAD v2 gnomAD v4
8g.43122515T>ACA371122453POMKc.691T>A (p.Leu231Ile)
c.*487T>A (n.*487T>A)
c.409T>A (p.Leu137Ile)
c.*611T>A (n.*611T>A)
c.649T>A (p.Leu217Ile)
c.*476T>A (n.*476T>A)
8g.43122515T>CCA460787331POMKc.691T>C (p.Leu231=)
c.*487T>C (n.*487T>C)
c.409T>C (p.Leu137=)
c.*611T>C (n.*611T>C)
c.649T>C (p.Leu217=)
c.*476T>C (n.*476T>C)
8g.43122515T>GCA371122454POMKc.691T>G (p.Leu231Val)
c.*487T>G (n.*487T>G)
c.409T>G (p.Leu137Val)
c.*611T>G (n.*611T>G)
c.649T>G (p.Leu217Val)
c.*476T>G (n.*476T>G)
8g.43122516T>ACA371122455POMKc.692T>A (p.Leu231Ter)
c.*488T>A (n.*488T>A)
c.410T>A (p.Leu137Ter)
c.*612T>A (n.*612T>A)
c.650T>A (p.Leu217Ter)
c.*477T>A (n.*477T>A)
gnomAD v4
8g.43122516T>CCA371122457POMKc.692T>C (p.Leu231Ser)
c.*488T>C (n.*488T>C)
c.410T>C (p.Leu137Ser)
c.*612T>C (n.*612T>C)
c.650T>C (p.Leu217Ser)
c.*477T>C (n.*477T>C)
8g.43122516T>GCA371122456POMKc.692T>G (p.Leu231Ter)
c.*488T>G (n.*488T>G)
c.410T>G (p.Leu137Ter)
c.*612T>G (n.*612T>G)
c.650T>G (p.Leu217Ter)
c.*477T>G (n.*477T>G)
8g.43122517A>CCA371122458POMKc.693A>C (p.Leu231Phe)
c.*489A>C (n.*489A>C)
c.411A>C (p.Leu137Phe)
c.*613A>C (n.*613A>C)
c.651A>C (p.Leu217Phe)
c.*478A>C (n.*478A>C)
8g.43122517A>GCA460787336POMKc.693A>G (p.Leu231=)
c.*489A>G (n.*489A>G)
c.411A>G (p.Leu137=)
c.*613A>G (n.*613A>G)
c.651A>G (p.Leu217=)
c.*478A>G (n.*478A>G)
8g.43122517A>TCA371122459POMKc.693A>T (p.Leu231Phe)
c.*489A>T (n.*489A>T)
c.411A>T (p.Leu137Phe)
c.*613A>T (n.*613A>T)
c.651A>T (p.Leu217Phe)
c.*478A>T (n.*478A>T)
8g.43122518C>ACA371122460POMKc.694C>A (p.Pro232Thr)
c.*490C>A (n.*490C>A)
c.412C>A (p.Pro138Thr)
c.*614C>A (n.*614C>A)
c.652C>A (p.Pro218Thr)
c.*479C>A (n.*479C>A)
8g.43122518C>GCA371122461POMKc.694C>G (p.Pro232Ala)
c.*490C>G (n.*490C>G)
c.412C>G (p.Pro138Ala)
c.*614C>G (n.*614C>G)
c.652C>G (p.Pro218Ala)
c.*479C>G (n.*479C>G)
8g.43122518C>TCA371122462POMKc.694C>T (p.Pro232Ser)
c.*490C>T (n.*490C>T)
c.412C>T (p.Pro138Ser)
c.*614C>T (n.*614C>T)
c.652C>T (p.Pro218Ser)
c.*479C>T (n.*479C>T)
gnomAD v4
8g.43122519C>ACA371122463POMKc.695C>A (p.Pro232His)
c.*491C>A (n.*491C>A)
c.413C>A (p.Pro138His)
c.*615C>A (n.*615C>A)
c.653C>A (p.Pro218His)
c.*480C>A (n.*480C>A)
dbSNP
8g.43122519C=CA1779747560POMKc.695C= (p.Pro232=)
c.*491C= (n.*491C=)
c.413C= (p.Pro138=)
c.*615C= (n.*615C=)
c.653C= (p.Pro218=)
c.*480C= (n.*480C=)
8g.43122519C>GCA371122464POMKc.695C>G (p.Pro232Arg)
c.*491C>G (n.*491C>G)
c.413C>G (p.Pro138Arg)
c.*615C>G (n.*615C>G)
c.653C>G (p.Pro218Arg)
c.*480C>G (n.*480C>G)
8g.43122519C>TCA371122465POMKc.695C>T (p.Pro232Leu)
c.*491C>T (n.*491C>T)
c.413C>T (p.Pro138Leu)
c.*615C>T (n.*615C>T)
c.653C>T (p.Pro218Leu)
c.*480C>T (n.*480C>T)
gnomAD v4
8g.43122520C>ACA460787339POMKc.696C>A (p.Pro232=)
c.*492C>A (n.*492C>A)
c.414C>A (p.Pro138=)
c.*616C>A (n.*616C>A)
c.654C>A (p.Pro218=)
c.*481C>A (n.*481C>A)
8g.43122520C=CA1779747564POMKc.696C= (p.Pro232=)
c.*492C= (n.*492C=)
c.414C= (p.Pro138=)
c.*616C= (n.*616C=)
c.654C= (p.Pro218=)
c.*481C= (n.*481C=)
8g.43122520C>GCA460787340POMKc.696C>G (p.Pro232=)
c.*492C>G (n.*492C>G)
c.414C>G (p.Pro138=)
c.*616C>G (n.*616C>G)
c.654C>G (p.Pro218=)
c.*481C>G (n.*481C>G)
8g.43122520C>TCA4736338POMKc.696C>T (p.Pro232=)
c.*492C>T (n.*492C>T)
c.414C>T (p.Pro138=)
c.*616C>T (n.*616C>T)
c.654C>T (p.Pro218=)
c.*481C>T (n.*481C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122521C>ACA371122466POMKc.697C>A (p.Leu233Met)
c.*493C>A (n.*493C>A)
c.415C>A (p.Leu139Met)
c.*617C>A (n.*617C>A)
c.655C>A (p.Leu219Met)
c.*482C>A (n.*482C>A)
8g.43122521C=CA1779747568POMKc.697C= (p.Leu233=)
c.*493C= (n.*493C=)
c.415C= (p.Leu139=)
c.*617C= (n.*617C=)
c.655C= (p.Leu219=)
c.*482C= (n.*482C=)
8g.43122521C>GCA176080276POMKc.697C>G (p.Leu233Val)
c.*493C>G (n.*493C>G)
c.415C>G (p.Leu139Val)
c.*617C>G (n.*617C>G)
c.655C>G (p.Leu219Val)
c.*482C>G (n.*482C>G)
dbSNP gnomAD v3 gnomAD v4
8g.43122521C>TCA460787342POMKc.697C>T (p.Leu233=)
c.*493C>T (n.*493C>T)
c.415C>T (p.Leu139=)
c.*617C>T (n.*617C>T)
c.655C>T (p.Leu219=)
c.*482C>T (n.*482C>T)
8g.43122521_43122522delinsCTCA1779747569POMKc.697_698delinsCT (p.Leu233=)
c.*493_*494delinsCT (n.*493_*494delinsCT)
c.415_416delinsCT (p.Leu139=)
c.*617_*618delinsCT (n.*617_*618delinsCT)
c.655_656delinsCT (p.Leu219=)
c.*482_*483delinsCT (n.*482_*483delinsCT)
8g.43122522delCA1113252651POMKc.698del (p.Leu233ArgfsTer2)
c.*494del (n.*494del)
c.416del (p.Leu139ArgfsTer2)
c.*618del (n.*618del)
c.656del (p.Leu219ArgfsTer2)
c.*483del (n.*483del)
dbSNP gnomAD v3 gnomAD v4
8g.43122522T>ACA371122467POMKc.698T>A (p.Leu233Gln)
c.*494T>A (n.*494T>A)
c.416T>A (p.Leu139Gln)
c.*618T>A (n.*618T>A)
c.656T>A (p.Leu219Gln)
c.*483T>A (n.*483T>A)
8g.43122522T>CCA371122469POMKc.698T>C (p.Leu233Pro)
c.*494T>C (n.*494T>C)
c.416T>C (p.Leu139Pro)
c.*618T>C (n.*618T>C)
c.656T>C (p.Leu219Pro)
c.*483T>C (n.*483T>C)
8g.43122522T>GCA371122468POMKc.698T>G (p.Leu233Arg)
c.*494T>G (n.*494T>G)
c.416T>G (p.Leu139Arg)
c.*618T>G (n.*618T>G)
c.656T>G (p.Leu219Arg)
c.*483T>G (n.*483T>G)
8g.43122523G>ACA460787344POMKc.699G>A (p.Leu233=)
c.*495G>A (n.*495G>A)
c.417G>A (p.Leu139=)
c.*619G>A (n.*619G>A)
c.657G>A (p.Leu219=)
c.*484G>A (n.*484G>A)
dbSNP
8g.43122523G>CCA460787346POMKc.699G>C (p.Leu233=)
c.*495G>C (n.*495G>C)
c.417G>C (p.Leu139=)
c.*619G>C (n.*619G>C)
c.657G>C (p.Leu219=)
c.*484G>C (n.*484G>C)
8g.43122523G=CA1779747573POMKc.699G= (p.Leu233=)
c.*495G= (n.*495G=)
c.417G= (p.Leu139=)
c.*619G= (n.*619G=)
c.657G= (p.Leu219=)
c.*484G= (n.*484G=)
8g.43122523G>TCA460787345POMKc.699G>T (p.Leu233=)
c.*495G>T (n.*495G>T)
c.417G>T (p.Leu139=)
c.*619G>T (n.*619G>T)
c.657G>T (p.Leu219=)
c.*484G>T (n.*484G>T)
COSMIC COSMIC
8g.43122524G>ACA371122470POMKc.700G>A (p.Val234Met)
c.*496G>A (n.*496G>A)
c.418G>A (p.Val140Met)
c.*620G>A (n.*620G>A)
c.658G>A (p.Val220Met)
c.*485G>A (n.*485G>A)
8g.43122524G>CCA371122472POMKc.700G>C (p.Val234Leu)
c.*496G>C (n.*496G>C)
c.418G>C (p.Val140Leu)
c.*620G>C (n.*620G>C)
c.658G>C (p.Val220Leu)
c.*485G>C (n.*485G>C)
8g.43122524G>TCA371122471POMKc.700G>T (p.Val234Leu)
c.*496G>T (n.*496G>T)
c.418G>T (p.Val140Leu)
c.*620G>T (n.*620G>T)
c.658G>T (p.Val220Leu)
c.*485G>T (n.*485G>T)
8g.43122525T>ACA371122473POMKc.701T>A (p.Val234Glu)
c.*497T>A (n.*497T>A)
c.419T>A (p.Val140Glu)
c.*621T>A (n.*621T>A)
c.659T>A (p.Val220Glu)
c.*486T>A (n.*486T>A)
8g.43122525T>CCA4736339POMKc.701T>C (p.Val234Ala)
c.*497T>C (n.*497T>C)
c.419T>C (p.Val140Ala)
c.*621T>C (n.*621T>C)
c.659T>C (p.Val220Ala)
c.*486T>C (n.*486T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122525T>GCA371122474POMKc.701T>G (p.Val234Gly)
c.*497T>G (n.*497T>G)
c.419T>G (p.Val140Gly)
c.*621T>G (n.*621T>G)
c.659T>G (p.Val220Gly)
c.*486T>G (n.*486T>G)
8g.43122525T=CA1779747582POMKc.701T= (p.Val234=)
c.*497T= (n.*497T=)
c.419T= (p.Val140=)
c.*621T= (n.*621T=)
c.659T= (p.Val220=)
c.*486T= (n.*486T=)
8g.43122526G>ACA460787350POMKc.702G>A (p.Val234=)
c.*498G>A (n.*498G>A)
c.420G>A (p.Val140=)
c.*622G>A (n.*622G>A)
c.660G>A (p.Val220=)
c.*487G>A (n.*487G>A)
8g.43122526G>CCA460787353POMKc.702G>C (p.Val234=)
c.*498G>C (n.*498G>C)
c.420G>C (p.Val140=)
c.*622G>C (n.*622G>C)
c.660G>C (p.Val220=)
c.*487G>C (n.*487G>C)
8g.43122526G>TCA460787351POMKc.702G>T (p.Val234=)
c.*498G>T (n.*498G>T)
c.420G>T (p.Val140=)
c.*622G>T (n.*622G>T)
c.660G>T (p.Val220=)
c.*487G>T (n.*487G>T)
8g.43122527A>CCA371122475POMKc.703A>C (p.Asn235His)
c.*499A>C (n.*499A>C)
c.421A>C (p.Asn141His)
c.*623A>C (n.*623A>C)
c.661A>C (p.Asn221His)
c.*488A>C (n.*488A>C)
8g.43122527A>GCA371122477POMKc.703A>G (p.Asn235Asp)
c.*499A>G (n.*499A>G)
c.421A>G (p.Asn141Asp)
c.*623A>G (n.*623A>G)
c.661A>G (p.Asn221Asp)
c.*488A>G (n.*488A>G)
gnomAD v4
8g.43122527A>TCA371122476POMKc.703A>T (p.Asn235Tyr)
c.*499A>T (n.*499A>T)
c.421A>T (p.Asn141Tyr)
c.*623A>T (n.*623A>T)
c.661A>T (p.Asn221Tyr)
c.*488A>T (n.*488A>T)
8g.43122528A=CA1779747587POMKc.704A= (p.Asn235=)
c.*500A= (n.*500A=)
c.422A= (p.Asn141=)
c.*624A= (n.*624A=)
c.662A= (p.Asn221=)
c.*489A= (n.*489A=)
8g.43122528A>CCA371122478POMKc.704A>C (p.Asn235Thr)
c.*500A>C (n.*500A>C)
c.422A>C (p.Asn141Thr)
c.*624A>C (n.*624A>C)
c.662A>C (p.Asn221Thr)
c.*489A>C (n.*489A>C)
8g.43122528A>GCA4736340POMKc.704A>G (p.Asn235Ser)
c.*500A>G (n.*500A>G)
c.422A>G (p.Asn141Ser)
c.*624A>G (n.*624A>G)
c.662A>G (p.Asn221Ser)
c.*489A>G (n.*489A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122528A>TCA371122479POMKc.704A>T (p.Asn235Ile)
c.*500A>T (n.*500A>T)
c.422A>T (p.Asn141Ile)
c.*624A>T (n.*624A>T)
c.662A>T (p.Asn221Ile)
c.*489A>T (n.*489A>T)
gnomAD v4
8g.43122529C>ACA371122480POMKc.705C>A (p.Asn235Lys)
c.*501C>A (n.*501C>A)
c.423C>A (p.Asn141Lys)
c.*625C>A (n.*625C>A)
c.663C>A (p.Asn221Lys)
c.*490C>A (n.*490C>A)
8g.43122529C=CA1779747592POMKc.705C= (p.Asn235=)
c.*501C= (n.*501C=)
c.423C= (p.Asn141=)
c.*625C= (n.*625C=)
c.663C= (p.Asn221=)
c.*490C= (n.*490C=)
8g.43122529C>GCA4736341POMKc.705C>G (p.Asn235Lys)
c.*501C>G (n.*501C>G)
c.423C>G (p.Asn141Lys)
c.*625C>G (n.*625C>G)
c.663C>G (p.Asn221Lys)
c.*490C>G (n.*490C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122529C>TCA460787357POMKc.705C>T (p.Asn235=)
c.*501C>T (n.*501C>T)
c.423C>T (p.Asn141=)
c.*625C>T (n.*625C>T)
c.663C>T (p.Asn221=)
c.*490C>T (n.*490C>T)
8g.43122530C>ACA371122481POMKc.706C>A (p.His236Asn)
c.*502C>A (n.*502C>A)
c.424C>A (p.His142Asn)
c.*626C>A (n.*626C>A)
c.664C>A (p.His222Asn)
c.*491C>A (n.*491C>A)
8g.43122530C>GCA371122482POMKc.706C>G (p.His236Asp)
c.*502C>G (n.*502C>G)
c.424C>G (p.His142Asp)
c.*626C>G (n.*626C>G)
c.664C>G (p.His222Asp)
c.*491C>G (n.*491C>G)
8g.43122530C>TCA371122483POMKc.706C>T (p.His236Tyr)
c.*502C>T (n.*502C>T)
c.424C>T (p.His142Tyr)
c.*626C>T (n.*626C>T)
c.664C>T (p.His222Tyr)
c.*491C>T (n.*491C>T)
gnomAD v4
8g.43122531A>CCA371122484POMKc.707A>C (p.His236Pro)
c.*503A>C (n.*503A>C)
c.425A>C (p.His142Pro)
c.*627A>C (n.*627A>C)
c.665A>C (p.His222Pro)
c.*492A>C (n.*492A>C)
8g.43122531A>GCA371122485POMKc.707A>G (p.His236Arg)
c.*503A>G (n.*503A>G)
c.425A>G (p.His142Arg)
c.*627A>G (n.*627A>G)
c.665A>G (p.His222Arg)
c.*492A>G (n.*492A>G)
8g.43122531A>TCA371122486POMKc.707A>T (p.His236Leu)
c.*503A>T (n.*503A>T)
c.425A>T (p.His142Leu)
c.*627A>T (n.*627A>T)
c.665A>T (p.His222Leu)
c.*492A>T (n.*492A>T)
gnomAD v4
8g.43122532C>ACA371122487POMKc.708C>A (p.His236Gln)
c.*504C>A (n.*504C>A)
c.426C>A (p.His142Gln)
c.*628C>A (n.*628C>A)
c.666C>A (p.His222Gln)
c.*493C>A (n.*493C>A)
8g.43122532C>GCA371122488POMKc.708C>G (p.His236Gln)
c.*504C>G (n.*504C>G)
c.426C>G (p.His142Gln)
c.*628C>G (n.*628C>G)
c.666C>G (p.His222Gln)
c.*493C>G (n.*493C>G)
8g.43122532C>TCA460787360POMKc.708C>T (p.His236=)
c.*504C>T (n.*504C>T)
c.426C>T (p.His142=)
c.*628C>T (n.*628C>T)
c.666C>T (p.His222=)
c.*493C>T (n.*493C>T)
8g.43122533A>CCA371122489POMKc.709A>C (p.Ser237Arg)
c.*505A>C (n.*505A>C)
c.427A>C (p.Ser143Arg)
c.*629A>C (n.*629A>C)
c.667A>C (p.Ser223Arg)
c.*494A>C (n.*494A>C)
8g.43122533A>GCA371122490POMKc.709A>G (p.Ser237Gly)
c.*505A>G (n.*505A>G)
c.427A>G (p.Ser143Gly)
c.*629A>G (n.*629A>G)
c.667A>G (p.Ser223Gly)
c.*494A>G (n.*494A>G)
8g.43122533A>TCA371122491POMKc.709A>T (p.Ser237Cys)
c.*505A>T (n.*505A>T)
c.427A>T (p.Ser143Cys)
c.*629A>T (n.*629A>T)
c.667A>T (p.Ser223Cys)
c.*494A>T (n.*494A>T)

Number of alleles fetched