Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.57562765A=CA2371896249PCK1c.476A= (p.Glu159=)
n.1686A=
n.418A=
c.80A= (p.Glu27=)
20g.57562765A>CCA409435075PCK1c.476A>C (p.Glu159Ala)
n.1686A>C
n.418A>C
c.80A>C (p.Glu27Ala)
 dbSNP gnomAD v4
20g.57562765A>GCA409435073PCK1c.476A>G (p.Glu159Gly)
n.1686A>G
n.418A>G
c.80A>G (p.Glu27Gly)
 dbSNP gnomAD v4
20g.57562765A>TCA409435074PCK1c.476A>T (p.Glu159Val)
n.1686A>T
n.418A>T
c.80A>T (p.Glu27Val)
 dbSNP
20g.57562766G>ACA511310861PCK1c.477G>A (p.Glu159=)
n.1687G>A
n.419G>A
c.81G>A (p.Glu27=)
 dbSNP gnomAD v3 gnomAD v4
20g.57562766G>CCA409435076PCK1c.477G>C (p.Glu159Asp)
n.1687G>C
n.419G>C
c.81G>C (p.Glu27Asp)
20g.57562766G=CA2371896250PCK1c.477G= (p.Glu159=)
n.1687G=
n.419G=
c.81G= (p.Glu27=)
20g.57562766G>TCA409435077PCK1c.477G>T (p.Glu159Asp)
n.1687G>T
n.419G>T
c.81G>T (p.Glu27Asp)
20g.57562767C>ACA409435078PCK1c.478C>A (p.Leu160Met)
n.1688C>A
n.420C>A
c.82C>A (p.Leu28Met)
20g.57562767C>GCA409435079PCK1c.478C>G (p.Leu160Val)
n.1688C>G
n.420C>G
c.82C>G (p.Leu28Val)
20g.57562767C>TCA511310862PCK1c.478C>T (p.Leu160=)
n.1688C>T
n.420C>T
c.82C>T (p.Leu28=)
20g.57562768T>ACA409435080PCK1c.479T>A (p.Leu160Gln)
n.1689T>A
n.421T>A
c.83T>A (p.Leu28Gln)
20g.57562768T>CCA409435081PCK1c.479T>C (p.Leu160Pro)
n.1689T>C
n.421T>C
c.83T>C (p.Leu28Pro)
20g.57562768T>GCA409435082PCK1c.479T>G (p.Leu160Arg)
n.1689T>G
n.421T>G
c.83T>G (p.Leu28Arg)
20g.57562769G>ACA511310863PCK1c.480G>A (p.Leu160=)
n.1690G>A
n.422G>A
c.84G>A (p.Leu28=)
20g.57562769G>CCA511310865PCK1c.480G>C (p.Leu160=)
n.1690G>C
n.422G>C
c.84G>C (p.Leu28=)
20g.57562769G>TCA511310864PCK1c.480G>T (p.Leu160=)
n.1690G>T
n.422G>T
c.84G>T (p.Leu28=)
20g.57562770A=CA2371896251PCK1c.481A= (p.Thr161=)
n.1691A=
n.423A=
c.85A= (p.Thr29=)
20g.57562770A>CCA409435083PCK1c.481A>C (p.Thr161Pro)
n.1691A>C
n.423A>C
c.85A>C (p.Thr29Pro)
20g.57562770A>GCA409435084PCK1c.481A>G (p.Thr161Ala)
n.1691A>G
n.423A>G
c.85A>G (p.Thr29Ala)
 gnomAD v4
20g.57562770A>TCA409435085PCK1c.481A>T (p.Thr161Ser)
n.1691A>T
n.423A>T
c.85A>T (p.Thr29Ser)
 dbSNP
20g.57562771C>ACA409435087PCK1c.482C>A (p.Thr161Lys)
n.1692C>A
n.424C>A
c.86C>A (p.Thr29Lys)
 dbSNP gnomAD v2 gnomAD v4
20g.57562771C=CA2371896252PCK1c.482C= (p.Thr161=)
n.1692C=
n.424C=
c.86C= (p.Thr29=)
20g.57562771C>GCA409435086PCK1c.482C>G (p.Thr161Arg)
n.1692C>G
n.424C>G
c.86C>G (p.Thr29Arg)
20g.57562771C>TCA316278915PCK1c.482C>T (p.Thr161Met)
n.1692C>T
n.424C>T
c.86C>T (p.Thr29Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.57562772G>ACA9922032PCK1c.483G>A (p.Thr161=)
n.1693G>A
n.425G>A
c.87G>A (p.Thr29=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562772G>CCA511310866PCK1c.483G>C (p.Thr161=)
n.1693G>C
n.425G>C
c.87G>C (p.Thr29=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562772G=CA2371896253PCK1c.483G= (p.Thr161=)
n.1693G=
n.425G=
c.87G= (p.Thr29=)
20g.57562772G>TCA511310867PCK1c.483G>T (p.Thr161=)
n.1693G>T
n.425G>T
c.87G>T (p.Thr29=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562773G>ACA409435088PCK1c.484G>A (p.Asp162Asn)
n.1694G>A
n.426G>A
c.88G>A (p.Asp30Asn)
20g.57562773G>CCA409435089PCK1c.484G>C (p.Asp162His)
n.1694G>C
n.426G>C
c.88G>C (p.Asp30His)
 dbSNP
20g.57562773G=CA2371896254PCK1c.484G= (p.Asp162=)
n.1694G=
n.426G=
c.88G= (p.Asp30=)
20g.57562773G>TCA409435090PCK1c.484G>T (p.Asp162Tyr)
n.1694G>T
n.426G>T
c.88G>T (p.Asp30Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.57562774A>CCA409435091PCK1c.485A>C (p.Asp162Ala)
n.1695A>C
n.427A>C
c.89A>C (p.Asp30Ala)
20g.57562774A>GCA409435092PCK1c.485A>G (p.Asp162Gly)
n.1695A>G
n.427A>G
c.89A>G (p.Asp30Gly)
20g.57562774A>TCA409435093PCK1c.485A>T (p.Asp162Val)
n.1695A>T
n.427A>T
c.89A>T (p.Asp30Val)
20g.57562775T>ACA409435094PCK1c.486T>A (p.Asp162Glu)
n.1696T>A
n.428T>A
c.90T>A (p.Asp30Glu)
 gnomAD v4
20g.57562775T>CCA511310868PCK1c.486T>C (p.Asp162=)
n.1696T>C
n.428T>C
c.90T>C (p.Asp30=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562775T>GCA409435095PCK1c.486T>G (p.Asp162Glu)
n.1696T>G
n.428T>G
c.90T>G (p.Asp30Glu)
 gnomAD v4
20g.57562775T=CA2371896255PCK1c.486T= (p.Asp162=)
n.1696T=
n.428T=
c.90T= (p.Asp30=)
20g.57562776T>ACA409435096PCK1c.487T>A (p.Ser163Thr)
n.1697T>A
n.429T>A
c.91T>A (p.Ser31Thr)
20g.57562776T>CCA409435097PCK1c.487T>C (p.Ser163Pro)
n.1697T>C
n.429T>C
c.91T>C (p.Ser31Pro)
20g.57562776T>GCA409435098PCK1c.487T>G (p.Ser163Ala)
n.1697T>G
n.429T>G
c.91T>G (p.Ser31Ala)
20g.57562777C>ACA409435100PCK1c.488C>A (p.Ser163Ter)
n.1698C>A
n.430C>A
c.92C>A (p.Ser31Ter)
20g.57562777C=CA2371896256PCK1c.488C= (p.Ser163=)
n.1698C=
n.430C=
c.92C= (p.Ser31=)
20g.57562777C>GCA409435099PCK1c.488C>G (p.Ser163Ter)
n.1698C>G
n.430C>G
c.92C>G (p.Ser31Ter)
20g.57562777C>TCA316278929PCK1c.488C>T (p.Ser163Leu)
n.1698C>T
n.430C>T
c.92C>T (p.Ser31Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562778A=CA2371896257PCK1c.489A= (p.Ser163=)
n.1699A=
n.431A=
c.93A= (p.Ser31=)
20g.57562778A>CCA511310870PCK1c.489A>C (p.Ser163=)
n.1699A>C
n.431A>C
c.93A>C (p.Ser31=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562778A>GCA9922033PCK1c.489A>G (p.Ser163=)
n.1699A>G
n.431A>G
c.93A>G (p.Ser31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562778A>TCA511310869PCK1c.489A>T (p.Ser163=)
n.1699A>T
n.431A>T
c.93A>T (p.Ser31=)
 dbSNP gnomAD v3 gnomAD v4
20g.57562779C>ACA409435101PCK1c.490C>A (p.Pro164Thr)
n.1700C>A
n.432C>A
c.94C>A (p.Pro32Thr)
20g.57562779C=CA2371896258PCK1c.490C= (p.Pro164=)
n.1700C=
n.432C=
c.94C= (p.Pro32=)
20g.57562779C>GCA409435102PCK1c.490C>G (p.Pro164Ala)
n.1700C>G
n.432C>G
c.94C>G (p.Pro32Ala)
 dbSNP
20g.57562779C>TCA409435103PCK1c.490C>T (p.Pro164Ser)
n.1700C>T
n.432C>T
c.94C>T (p.Pro32Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.57562780C>ACA409435104PCK1c.491C>A (p.Pro164His)
n.1701C>A
n.433C>A
c.95C>A (p.Pro32His)
20g.57562780C>GCA409435105PCK1c.491C>G (p.Pro164Arg)
n.1701C>G
n.433C>G
c.95C>G (p.Pro32Arg)
20g.57562780C>TCA409435106PCK1c.491C>T (p.Pro164Leu)
n.1701C>T
n.433C>T
c.95C>T (p.Pro32Leu)
 gnomAD v4
20g.57562781C>ACA511310871PCK1c.492C>A (p.Pro164=)
n.1702C>A
n.434C>A
c.96C>A (p.Pro32=)
 dbSNP
20g.57562781C=CA2371896259PCK1c.492C= (p.Pro164=)
n.1702C=
n.434C=
c.96C= (p.Pro32=)
20g.57562781C>GCA511310872PCK1c.492C>G (p.Pro164=)
n.1702C>G
n.434C>G
c.96C>G (p.Pro32=)
20g.57562781C>TCA511310873PCK1c.492C>T (p.Pro164=)
n.1702C>T
n.434C>T
c.96C>T (p.Pro32=)
 dbSNP gnomAD v3 gnomAD v4
20g.57562782T>ACA409435107PCK1c.493T>A (p.Tyr165Asn)
n.1703T>A
n.435T>A
c.97T>A (p.Tyr33Asn)
20g.57562782T>CCA409435108PCK1c.493T>C (p.Tyr165His)
n.1703T>C
n.435T>C
c.97T>C (p.Tyr33His)
20g.57562782T>GCA409435109PCK1c.493T>G (p.Tyr165Asp)
n.1703T>G
n.435T>G
c.97T>G (p.Tyr33Asp)
20g.57562783A>CCA409435110PCK1c.494A>C (p.Tyr165Ser)
n.1704A>C
n.436A>C
c.98A>C (p.Tyr33Ser)
20g.57562783A>GCA409435111PCK1c.494A>G (p.Tyr165Cys)
n.1704A>G
n.436A>G
c.98A>G (p.Tyr33Cys)
 COSMIC COSMIC
20g.57562783A>TCA409435112PCK1c.494A>T (p.Tyr165Phe)
n.1704A>T
n.436A>T
c.98A>T (p.Tyr33Phe)
20g.57562784C>ACA409435114PCK1c.495C>A (p.Tyr165Ter)
n.1705C>A
n.437C>A
c.99C>A (p.Tyr33Ter)
 gnomAD v4
20g.57562784C=CA2371896260PCK1c.495C= (p.Tyr165=)
n.1705C=
n.437C=
c.99C= (p.Tyr33=)
20g.57562784C>GCA409435113PCK1c.495C>G (p.Tyr165Ter)
n.1705C>G
n.437C>G
c.99C>G (p.Tyr33Ter)
20g.57562784C>TCA9922034PCK1c.495C>T (p.Tyr165=)
n.1705C>T
n.437C>T
c.99C>T (p.Tyr33=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562785G>ACA9922035PCK1c.496G>A (p.Val166Met)
n.1706G>A
n.438G>A
c.100G>A (p.Val34Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.57562785G>CCA409435115PCK1c.496G>C (p.Val166Leu)
n.1706G>C
n.438G>C
c.100G>C (p.Val34Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.57562785G=CA2371896261PCK1c.496G= (p.Val166=)
n.1706G=
n.438G=
c.100G= (p.Val34=)
20g.57562785G>TCA409435116PCK1c.496G>T (p.Val166Leu)
n.1706G>T
n.438G>T
c.100G>T (p.Val34Leu)
 gnomAD v4
20g.57562786T>ACA9922036PCK1c.497T>A (p.Val166Glu)
n.1707T>A
n.439T>A
c.101T>A (p.Val34Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562786T>CCA409435117PCK1c.497T>C (p.Val166Ala)
n.1707T>C
n.439T>C
c.101T>C (p.Val34Ala)
20g.57562786T>GCA409435118PCK1c.497T>G (p.Val166Gly)
n.1707T>G
n.439T>G
c.101T>G (p.Val34Gly)
20g.57562786T=CA2371896262PCK1c.497T= (p.Val166=)
n.1707T=
n.439T=
c.101T= (p.Val34=)
20g.57562786_57562787delinsTGCA2371896263PCK1c.497_498delinsTG (p.Val166=)
n.1707_1708delinsTG
n.439_440delinsTG
c.101_102delinsTG (p.Val34=)
20g.57562787G>ACA511310874PCK1c.498G>A (p.Val166=)
n.1708G>A
n.440G>A
c.102G>A (p.Val34=)
 dbSNP gnomAD v4
20g.57562787G>CCA9922037PCK1c.498G>C (p.Val166=)
n.1708G>C
n.440G>C
c.102G>C (p.Val34=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562787G=CA2371896265PCK1c.498G= (p.Val166=)
n.1708G=
n.440G=
c.102G= (p.Val34=)
20g.57562787G>TCA511310875PCK1c.498G>T (p.Val166=)
n.1708G>T
n.440G>T
c.102G>T (p.Val34=)
 dbSNP
20g.57562788delCA2371896264PCK1c.499del (p.Val167TrpfsTer7)
n.1709del
n.441del
c.103del (p.Val35TrpfsTer7)
 dbSNP
20g.57562787_57562792delCA2653459658PCK1c.498_503del (p.Val167_Ala168del)
n.1708_1713del
n.440_445del
c.102_107del (p.Val35_Ala36del)
 gnomAD v4
20g.57562788G>ACA9922038PCK1c.499G>A (p.Val167Met)
n.1709G>A
n.441G>A
c.103G>A (p.Val35Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562788G>CCA409435119PCK1c.499G>C (p.Val167Leu)
n.1709G>C
n.441G>C
c.103G>C (p.Val35Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562788G=CA2371896266PCK1c.499G= (p.Val167=)
n.1709G=
n.441G=
c.103G= (p.Val35=)
20g.57562788G>TCA409435120PCK1c.499G>T (p.Val167Leu)
n.1709G>T
n.441G>T
c.103G>T (p.Val35Leu)
20g.57562789T>ACA409435121PCK1c.500T>A (p.Val167Glu)
n.1710T>A
n.442T>A
c.104T>A (p.Val35Glu)
 gnomAD v4
20g.57562789T>CCA409435122PCK1c.500T>C (p.Val167Ala)
n.1710T>C
n.442T>C
c.104T>C (p.Val35Ala)
20g.57562789T>GCA409435123PCK1c.500T>G (p.Val167Gly)
n.1710T>G
n.442T>G
c.104T>G (p.Val35Gly)
20g.57562790G>ACA511310876PCK1c.501G>A (p.Val167=)
n.1711G>A
n.443G>A
c.105G>A (p.Val35=)
20g.57562790G>CCA511310877PCK1c.501G>C (p.Val167=)
n.1711G>C
n.443G>C
c.105G>C (p.Val35=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562790G=CA2371896267PCK1c.501G= (p.Val167=)
n.1711G=
n.443G=
c.105G= (p.Val35=)
20g.57562790G>TCA511310878PCK1c.501G>T (p.Val167=)
n.1711G>T
n.443G>T
c.105G>T (p.Val35=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562791G>ACA409435125PCK1c.502G>A (p.Ala168Thr)
n.1712G>A
n.444G>A
c.106G>A (p.Ala36Thr)
 dbSNP
20g.57562791G>CCA409435126PCK1c.502G>C (p.Ala168Pro)
n.1712G>C
n.444G>C
c.106G>C (p.Ala36Pro)
20g.57562791G>TCA409435124PCK1c.502G>T (p.Ala168Ser)
n.1712G>T
n.444G>T
c.106G>T (p.Ala36Ser)
20g.57562792C>ACA409435129PCK1c.503C>A (p.Ala168Asp)
n.1713C>A
n.445C>A
c.107C>A (p.Ala36Asp)
 dbSNP COSMIC COSMIC
20g.57562792C=CA2371896268PCK1c.503C= (p.Ala168=)
n.1713C=
n.445C=
c.107C= (p.Ala36=)
20g.57562792C>GCA409435127PCK1c.503C>G (p.Ala168Gly)
n.1713C>G
n.445C>G
c.107C>G (p.Ala36Gly)
20g.57562792C>TCA409435128PCK1c.503C>T (p.Ala168Val)
n.1713C>T
n.445C>T
c.107C>T (p.Ala36Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562793C>ACA511310879PCK1c.504C>A (p.Ala168=)
n.1714C>A
n.446C>A
c.108C>A (p.Ala36=)
20g.57562793C>GCA511310880PCK1c.504C>G (p.Ala168=)
n.1714C>G
n.446C>G
c.108C>G (p.Ala36=)
 dbSNP
20g.57562793C>TCA511310881PCK1c.504C>T (p.Ala168=)
n.1714C>T
n.446C>T
c.108C>T (p.Ala36=)
 ClinVar
20g.57562794A>CCA409435130PCK1c.505A>C (p.Ser169Arg)
n.1715A>C
n.447A>C
c.109A>C (p.Ser37Arg)
20g.57562794A>GCA409435131PCK1c.505A>G (p.Ser169Gly)
n.1715A>G
n.447A>G
c.109A>G (p.Ser37Gly)
20g.57562794A>TCA409435132PCK1c.505A>T (p.Ser169Cys)
n.1715A>T
n.447A>T
c.109A>T (p.Ser37Cys)
20g.57562795G>ACA409435133PCK1c.506G>A (p.Ser169Asn)
n.1716G>A
n.448G>A
c.110G>A (p.Ser37Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562795G>CCA409435134PCK1c.506G>C (p.Ser169Thr)
n.1716G>C
n.448G>C
c.110G>C (p.Ser37Thr)
 gnomAD v4
20g.57562795G=CA2371896269PCK1c.506G= (p.Ser169=)
n.1716G=
n.448G=
c.110G= (p.Ser37=)
20g.57562795G>TCA409435135PCK1c.506G>T (p.Ser169Ile)
n.1716G>T
n.448G>T
c.110G>T (p.Ser37Ile)
20g.57562796C>ACA409435136PCK1c.507C>A (p.Ser169Arg)
n.1717C>A
n.449C>A
c.111C>A (p.Ser37Arg)
 dbSNP
20g.57562796C=CA2371896270PCK1c.507C= (p.Ser169=)
n.1717C=
n.449C=
c.111C= (p.Ser37=)
20g.57562796C>GCA409435137PCK1c.507C>G (p.Ser169Arg)
n.1717C>G
n.449C>G
c.111C>G (p.Ser37Arg)
20g.57562796C>TCA511310882PCK1c.507C>T (p.Ser169=)
n.1717C>T
n.449C>T
c.111C>T (p.Ser37=)
 dbSNP
20g.57562797A>CCA409435138PCK1c.508A>C (p.Met170Leu)
n.1718A>C
n.450A>C
c.112A>C (p.Met38Leu)
 dbSNP
20g.57562797A>GCA409435139PCK1c.508A>G (p.Met170Val)
n.1718A>G
n.450A>G
c.112A>G (p.Met38Val)
20g.57562797A>TCA409435140PCK1c.508A>T (p.Met170Leu)
n.1718A>T
n.450A>T
c.112A>T (p.Met38Leu)
20g.57562798T>ACA409435143PCK1c.509T>A (p.Met170Lys)
n.1719T>A
n.451T>A
c.113T>A (p.Met38Lys)
20g.57562798T>CCA409435142PCK1c.509T>C (p.Met170Thr)
n.1719T>C
n.451T>C
c.113T>C (p.Met38Thr)
20g.57562798T>GCA409435141PCK1c.509T>G (p.Met170Arg)
n.1719T>G
n.451T>G
c.113T>G (p.Met38Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562798T=CA2371896271PCK1c.509T= (p.Met170=)
n.1719T=
n.451T=
c.113T= (p.Met38=)
20g.57562799G>ACA409435144PCK1c.510G>A (p.Met170Ile)
n.1720G>A
n.452G>A
c.114G>A (p.Met38Ile)
20g.57562799G>CCA409435145PCK1c.510G>C (p.Met170Ile)
n.1720G>C
n.452G>C
c.114G>C (p.Met38Ile)
 dbSNP
20g.57562799G=CA2371896272PCK1c.510G= (p.Met170=)
n.1720G=
n.452G=
c.114G= (p.Met38=)
20g.57562799G>TCA409435146PCK1c.510G>T (p.Met170Ile)
n.1720G>T
n.452G>T
c.114G>T (p.Met38Ile)
20g.57562800C>ACA9922041PCK1c.511C>A (p.Arg171=)
n.1721C>A
n.453C>A
c.115C>A (p.Arg39=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562800C=CA2371896273PCK1c.511C= (p.Arg171=)
n.1721C=
n.453C=
c.115C= (p.Arg39=)
20g.57562800C>GCA409435147PCK1c.511C>G (p.Arg171Gly)
n.1721C>G
n.453C>G
c.115C>G (p.Arg39Gly)
20g.57562800C>TCA9922040PCK1c.511C>T (p.Arg171Trp)
n.1721C>T
n.453C>T
c.115C>T (p.Arg39Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562800_57562805dupCA9922039PCK1c.511_516dup (p.Ile172_Met173insArgIle)
n.1721_1726dup
n.453_458dup
c.115_120dup (p.Ile40_Met41insArgIle)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.57562801G>ACA9922042PCK1c.512G>A (p.Arg171Gln)
n.1722G>A
n.454G>A
c.116G>A (p.Arg39Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562801G>CCA409435148PCK1c.512G>C (p.Arg171Pro)
n.1722G>C
n.454G>C
c.116G>C (p.Arg39Pro)
 dbSNP
20g.57562801G=CA2371896274PCK1c.512G= (p.Arg171=)
n.1722G=
n.454G=
c.116G= (p.Arg39=)
20g.57562801G>TCA409435149PCK1c.512G>T (p.Arg171Leu)
n.1722G>T
n.454G>T
c.116G>T (p.Arg39Leu)
20g.57562802G>ACA511310883PCK1c.513G>A (p.Arg171=)
n.1723G>A
n.455G>A
c.117G>A (p.Arg39=)
 COSMIC COSMIC
20g.57562802G>CCA9922043PCK1c.513G>C (p.Arg171=)
n.1723G>C
n.455G>C
c.117G>C (p.Arg39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562802G=CA2371896275PCK1c.513G= (p.Arg171=)
n.1723G=
n.455G=
c.117G= (p.Arg39=)
20g.57562802G>TCA511310884PCK1c.513G>T (p.Arg171=)
n.1723G>T
n.455G>T
c.117G>T (p.Arg39=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562803A>CCA409435150PCK1c.514A>C (p.Ile172Leu)
n.1724A>C
n.456A>C
c.118A>C (p.Ile40Leu)
20g.57562803A>GCA409435151PCK1c.514A>G (p.Ile172Val)
n.1724A>G
n.456A>G
c.118A>G (p.Ile40Val)
20g.57562803A>TCA409435152PCK1c.514A>T (p.Ile172Phe)
n.1724A>T
n.456A>T
c.118A>T (p.Ile40Phe)
20g.57562804T>ACA409435154PCK1c.515T>A (p.Ile172Asn)
n.1725T>A
n.457T>A
c.119T>A (p.Ile40Asn)
20g.57562804T>CCA409435155PCK1c.515T>C (p.Ile172Thr)
n.1725T>C
n.457T>C
c.119T>C (p.Ile40Thr)
20g.57562804T>GCA409435153PCK1c.515T>G (p.Ile172Ser)
n.1725T>G
n.457T>G
c.119T>G (p.Ile40Ser)
20g.57562805C>ACA511310885PCK1c.516C>A (p.Ile172=)
n.1726C>A
n.458C>A
c.120C>A (p.Ile40=)
20g.57562805C=CA2371896276PCK1c.516C= (p.Ile172=)
n.1726C=
n.458C=
c.120C= (p.Ile40=)
20g.57562805C>GCA316278968PCK1c.516C>G (p.Ile172Met)
n.1726C>G
n.458C>G
c.120C>G (p.Ile40Met)
 dbSNP gnomAD v4
20g.57562805C>TCA9922044PCK1c.516C>T (p.Ile172=)
n.1726C>T
n.458C>T
c.120C>T (p.Ile40=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.57562806A>CCA409435156PCK1c.517A>C (p.Met173Leu)
n.1727A>C
n.459A>C
c.121A>C (p.Met41Leu)
20g.57562806A>GCA409435157PCK1c.517A>G (p.Met173Val)
n.1727A>G
n.459A>G
c.121A>G (p.Met41Val)
20g.57562806A>TCA409435158PCK1c.517A>T (p.Met173Leu)
n.1727A>T
n.459A>T
c.121A>T (p.Met41Leu)
20g.57562807T>ACA409435161PCK1c.518T>A (p.Met173Lys)
n.1728T>A
n.460T>A
c.122T>A (p.Met41Lys)
20g.57562807T>CCA409435160PCK1c.518T>C (p.Met173Thr)
n.1728T>C
n.460T>C
c.122T>C (p.Met41Thr)
 gnomAD v4
20g.57562807T>GCA409435159PCK1c.518T>G (p.Met173Arg)
n.1728T>G
n.460T>G
c.122T>G (p.Met41Arg)
20g.57562808G>ACA409435162PCK1c.519G>A (p.Met173Ile)
n.1729G>A
n.461G>A
c.123G>A (p.Met41Ile)
 COSMIC COSMIC
20g.57562808G>CCA409435163PCK1c.519G>C (p.Met173Ile)
n.1729G>C
n.461G>C
c.123G>C (p.Met41Ile)
 dbSNP
20g.57562808G>TCA409435164PCK1c.519G>T (p.Met173Ile)
n.1729G>T
n.461G>T
c.123G>T (p.Met41Ile)
20g.57562808_57562820delinsGACGCGGATGGGCCA2371896277PCK1c.519_531delinsGACGCGGATGGGC (p.Met173=)
n.1729_1741delinsGACGCGGATGGGC
n.461_473delinsGACGCGGATGGGC
c.123_135delinsGACGCGGATGGGC (p.Met41=)
20g.57562809A>CCA409435165PCK1c.520A>C (p.Thr174Pro)
n.1730A>C
n.462A>C
c.124A>C (p.Thr42Pro)
20g.57562809A>GCA409435166PCK1c.520A>G (p.Thr174Ala)
n.1730A>G
n.462A>G
c.124A>G (p.Thr42Ala)
20g.57562809A>TCA409435167PCK1c.520A>T (p.Thr174Ser)
n.1730A>T
n.462A>T
c.124A>T (p.Thr42Ser)
20g.57562813_57562824delCA745920921PCK1c.524_535del (p.Arg175_Thr178del)
n.1734_1745del
n.466_477del
c.128_139del (p.Arg43_Thr46del)
 dbSNP
20g.57562810C>ACA409435168PCK1c.521C>A (p.Thr174Lys)
n.1731C>A
n.463C>A
c.125C>A (p.Thr42Lys)
 dbSNP gnomAD v4
20g.57562810C=CA2371896278PCK1c.521C= (p.Thr174=)
n.1731C=
n.463C=
c.125C= (p.Thr42=)
20g.57562810C>GCA409435169PCK1c.521C>G (p.Thr174Arg)
n.1731C>G
n.463C>G
c.125C>G (p.Thr42Arg)
 dbSNP
20g.57562810C>TCA9922045PCK1c.521C>T (p.Thr174Met)
n.1731C>T
n.463C>T
c.125C>T (p.Thr42Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.57562811G>ACA9922046PCK1c.522G>A (p.Thr174=)
n.1732G>A
n.464G>A
c.126G>A (p.Thr42=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562811G>CCA511310886PCK1c.522G>C (p.Thr174=)
n.1732G>C
n.464G>C
c.126G>C (p.Thr42=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562811G=CA2371896279PCK1c.522G= (p.Thr174=)
n.1732G=
n.464G=
c.126G= (p.Thr42=)
20g.57562811G>TCA511310887PCK1c.522G>T (p.Thr174=)
n.1732G>T
n.464G>T
c.126G>T (p.Thr42=)
 gnomAD v4
20g.57562812C>ACA511310888PCK1c.523C>A (p.Arg175=)
n.1733C>A
n.465C>A
c.127C>A (p.Arg43=)
20g.57562812C=CA2371896280PCK1c.523C= (p.Arg175=)
n.1733C=
n.465C=
c.127C= (p.Arg43=)
20g.57562812C>GCA409435170PCK1c.523C>G (p.Arg175Gly)
n.1733C>G
n.465C>G
c.127C>G (p.Arg43Gly)
20g.57562812C>TCA9922047PCK1c.523C>T (p.Arg175Trp)
n.1733C>T
n.465C>T
c.127C>T (p.Arg43Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.57562813G>ACA9922048PCK1c.524G>A (p.Arg175Gln)
n.1734G>A
n.466G>A
c.128G>A (p.Arg43Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.57562813G>CCA9922049PCK1c.524G>C (p.Arg175Pro)
n.1734G>C
n.466G>C
c.128G>C (p.Arg43Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.57562813G=CA2371896281PCK1c.524G= (p.Arg175=)
n.1734G=
n.466G=
c.128G= (p.Arg43=)
20g.57562813G>TCA409435171PCK1c.524G>T (p.Arg175Leu)
n.1734G>T
n.466G>T
c.128G>T (p.Arg43Leu)
 dbSNP gnomAD v2 COSMIC
20g.57562813_57562814delinsAACA645614738PCK1c.524_525delinsAA (p.Arg175Gln)
n.1734_1735delinsAA
n.466_467delinsAA
c.128_129delinsAA (p.Arg43Gln)
 COSMIC COSMIC
20g.57562814G>ACA9922050PCK1c.525G>A (p.Arg175=)
n.1735G>A
n.467G>A
c.129G>A (p.Arg43=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.57562814G>CCA511310889PCK1c.525G>C (p.Arg175=)
n.1735G>C
n.467G>C
c.129G>C (p.Arg43=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562814G=CA2371896282PCK1c.525G= (p.Arg175=)
n.1735G=
n.467G=
c.129G= (p.Arg43=)
20g.57562814G>TCA511310890PCK1c.525G>T (p.Arg175=)
n.1735G>T
n.467G>T
c.129G>T (p.Arg43=)
 gnomAD v4
20g.57562815A>CCA409435172PCK1c.526A>C (p.Met176Leu)
n.1736A>C
n.468A>C
c.130A>C (p.Met44Leu)
20g.57562815A>GCA409435173PCK1c.526A>G (p.Met176Val)
n.1736A>G
n.468A>G
c.130A>G (p.Met44Val)
20g.57562815A>TCA409435174PCK1c.526A>T (p.Met176Leu)
n.1736A>T
n.468A>T
c.130A>T (p.Met44Leu)
20g.57562816T>ACA409435177PCK1c.527T>A (p.Met176Lys)
n.1737T>A
n.469T>A
c.131T>A (p.Met44Lys)
20g.57562816T>CCA409435176PCK1c.527T>C (p.Met176Thr)
n.1737T>C
n.469T>C
c.131T>C (p.Met44Thr)
 dbSNP gnomAD v4
20g.57562816T>GCA409435175PCK1c.527T>G (p.Met176Arg)
n.1737T>G
n.469T>G
c.131T>G (p.Met44Arg)
20g.57562816T=CA2371896283PCK1c.527T= (p.Met176=)
n.1737T=
n.469T=
c.131T= (p.Met44=)
20g.57562817G>ACA409435178PCK1c.528G>A (p.Met176Ile)
n.1738G>A
n.470G>A
c.132G>A (p.Met44Ile)
 dbSNP gnomAD v4
20g.57562817G>CCA409435180PCK1c.528G>C (p.Met176Ile)
n.1738G>C
n.470G>C
c.132G>C (p.Met44Ile)
20g.57562817G>TCA409435179PCK1c.528G>T (p.Met176Ile)
n.1738G>T
n.470G>T
c.132G>T (p.Met44Ile)
20g.57562818G>ACA409435181PCK1c.529G>A (p.Gly177Ser)
n.1739G>A
n.471G>A
c.133G>A (p.Gly45Ser)
20g.57562818G>CCA409435182PCK1c.529G>C (p.Gly177Arg)
n.1739G>C
n.471G>C
c.133G>C (p.Gly45Arg)
20g.57562818G>TCA409435183PCK1c.529G>T (p.Gly177Cys)
n.1739G>T
n.471G>T
c.133G>T (p.Gly45Cys)
20g.57562819G>ACA409435184PCK1c.530G>A (p.Gly177Asp)
n.1740G>A
n.472G>A
c.134G>A (p.Gly45Asp)
 dbSNP gnomAD v3 gnomAD v4
20g.57562819G>CCA409435185PCK1c.530G>C (p.Gly177Ala)
n.1740G>C
n.472G>C
c.134G>C (p.Gly45Ala)
20g.57562819G=CA2371896284PCK1c.530G= (p.Gly177=)
n.1740G=
n.472G=
c.134G= (p.Gly45=)
20g.57562819G>TCA409435186PCK1c.530G>T (p.Gly177Val)
n.1740G>T
n.472G>T
c.134G>T (p.Gly45Val)
 gnomAD v4
20g.57562819_57562820insTGCGGCCGCCA2566564024PCK1c.530_531insTGCGGCCGC (p.Gly177_Thr178insAlaAlaAla)
n.1740_1741insTGCGGCCGC
n.472_473insTGCGGCCGC
c.134_135insTGCGGCCGC (p.Gly45_Thr46insAlaAlaAla)
20g.57562820C>ACA511310891PCK1c.531C>A (p.Gly177=)
n.1741C>A
n.473C>A
c.135C>A (p.Gly45=)
20g.57562820C>GCA511310892PCK1c.531C>G (p.Gly177=)
n.1741C>G
n.473C>G
c.135C>G (p.Gly45=)
20g.57562820C>TCA511310893PCK1c.531C>T (p.Gly177=)
n.1741C>T
n.473C>T
c.135C>T (p.Gly45=)
 dbSNP
20g.57562821A>CCA409435187PCK1c.532A>C (p.Thr178Pro)
n.1742A>C
n.474A>C
c.136A>C (p.Thr46Pro)
20g.57562821A>GCA409435188PCK1c.532A>G (p.Thr178Ala)
n.1742A>G
n.474A>G
c.136A>G (p.Thr46Ala)
 gnomAD v4
20g.57562821A>TCA409435189PCK1c.532A>T (p.Thr178Ser)
n.1742A>T
n.474A>T
c.136A>T (p.Thr46Ser)
 dbSNP
20g.57562821_57562822insAACA2533483630PCK1c.532_533insAA (p.Thr178LysfsTer?)
n.1742_1743insAA
n.474_475insAA
c.136_137insAA (p.Thr46LysfsTer?)
20g.57562821_57562822delinsACCA2371896285PCK1c.532_533delinsAC (p.Thr178=)
n.1742_1743delinsAC
n.474_475delinsAC
c.136_137delinsAC (p.Thr46=)
20g.57562821_57562822insTGGACCTCATCA2553338104PCK1c.532_533insTGGACCTCAT (p.Thr178MetfsTer?)
n.1742_1743insTGGACCTCAT
n.474_475insTGGACCTCAT
c.136_137insTGGACCTCAT (p.Thr46MetfsTer?)
20g.57562821_57562822insTGGACCTCATCGCCGAGGGCCA2816822577PCK1c.532_533insTGGACCTCATCGCCGAGGGC (p.Thr178MetfsTer?)
n.1742_1743insTGGACCTCATCGCCGAGGGC
n.474_475insTGGACCTCATCGCCGAGGGC
c.136_137insTGGACCTCATCGCCGAGGGC (p.Thr46MetfsTer?)
20g.57562821_57562822insAGCCCGTGTGGGACGTGCTGGGTGCTGACGGCA2555312081PCK1c.532_533insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG (p.Thr178LysfsTer?)
n.1742_1743insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG
n.474_475insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG
c.136_137insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG (p.Thr46LysfsTer?)
 gnomAD v4
20g.57562821_57562822insAGCCCGTGTGGGACGTACTGGGTGCTGACGGCA2508776839PCK1c.532_533insAGCCCGTGTGGGACGTACTGGGTGCTGACGG (p.Thr178LysfsTer?)
n.1742_1743insAGCCCGTGTGGGACGTACTGGGTGCTGACGG
n.474_475insAGCCCGTGTGGGACGTACTGGGTGCTGACGG
c.136_137insAGCCCGTGTGGGACGTACTGGGTGCTGACGG (p.Thr46LysfsTer?)
20g.57562821_57562822insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGGCA2536701362PCK1c.532_533insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG (p.Thr178LysfsTer?)
n.1742_1743insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG
n.474_475insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG
c.136_137insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG (p.Thr46LysfsTer?)
20g.57562821_57562822insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCA1018823225PCK1c.532_533insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC (p.Thr178LysfsTer?)
n.1742_1743insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC
n.474_475insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC
c.136_137insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC (p.Thr46LysfsTer?)
 gnomAD v3 gnomAD v4
20g.57562822delCA9922051PCK1c.533del (p.Thr178SerfsTer?)
n.1743del
n.475del
c.137del (p.Thr46SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562822C>ACA409435190PCK1c.533C>A (p.Thr178Lys)
n.1743C>A
n.475C>A
c.137C>A (p.Thr46Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562822C=CA2371896286PCK1c.533C= (p.Thr178=)
n.1743C=
n.475C=
c.137C= (p.Thr46=)
20g.57562822C>GCA409435191PCK1c.533C>G (p.Thr178Arg)
n.1743C>G
n.475C>G
c.137C>G (p.Thr46Arg)
 dbSNP
20g.57562822C>TCA9922052PCK1c.533C>T (p.Thr178Met)
n.1743C>T
n.475C>T
c.137C>T (p.Thr46Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562822_57562823insCCGTGTGGGACGTGCTGGGTACTGACGGTCA2569575452PCK1c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT (p.Pro179ArgfsTer8)
n.1743_1744insCCGTGTGGGACGTGCTGGGTACTGACGGT
n.475_476insCCGTGTGGGACGTGCTGGGTACTGACGGT
c.137_138insCCGTGTGGGACGTGCTGGGTACTGACGGT (p.Pro47ArgfsTer8)
20g.57562823delCA2653459748PCK1c.534del (p.Val180SerfsTer?)
n.1744del
n.476del
c.138del (p.Val48SerfsTer?)
 gnomAD v4
20g.57562823G>ACA511310894PCK1c.534G>A (p.Thr178=)
n.1744G>A
n.476G>A
c.138G>A (p.Thr46=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.57562823G>CCA511310895PCK1c.534G>C (p.Thr178=)
n.1744G>C
n.476G>C
c.138G>C (p.Thr46=)
20g.57562823G=CA2371896287PCK1c.534G= (p.Thr178=)
n.1744G=
n.476G=
c.138G= (p.Thr46=)
20g.57562823G>TCA511310896PCK1c.534G>T (p.Thr178=)
n.1744G>T
n.476G>T
c.138G>T (p.Thr46=)
 dbSNP
20g.57562824C>ACA9922053PCK1c.535C>A (p.Pro179Thr)
n.1745C>A
n.477C>A
c.139C>A (p.Pro47Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.57562824C=CA2371896288PCK1c.535C= (p.Pro179=)
n.1745C=
n.477C=
c.139C= (p.Pro47=)
20g.57562824C>GCA316279006PCK1c.535C>G (p.Pro179Ala)
n.1745C>G
n.477C>G
c.139C>G (p.Pro47Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562824C>TCA409435192PCK1c.535C>T (p.Pro179Ser)
n.1745C>T
n.477C>T
c.139C>T (p.Pro47Ser)
 dbSNP
20g.57562825C>ACA409435193PCK1c.536C>A (p.Pro179His)
n.1746C>A
n.478C>A
c.140C>A (p.Pro47His)
 gnomAD v4
20g.57562825C>GCA409435194PCK1c.536C>G (p.Pro179Arg)
n.1746C>G
n.478C>G
c.140C>G (p.Pro47Arg)
20g.57562825C>TCA409435195PCK1c.536C>T (p.Pro179Leu)
n.1746C>T
n.478C>T
c.140C>T (p.Pro47Leu)
 dbSNP gnomAD v4
20g.57562825_57562826insTTCGTGCCCGCCA2549559458PCK1c.536_537insTTCGTGCCCGC (p.Val180SerfsTer?)
n.1746_1747insTTCGTGCCCGC
n.478_479insTTCGTGCCCGC
c.140_141insTTCGTGCCCGC (p.Val48SerfsTer?)
20g.57562825_57562826insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCA2528597520PCK1c.536_537insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val180PhefsTer?)
n.1746_1747insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG
n.478_479insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG
c.140_141insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val48PhefsTer?)
20g.57562825_57562826insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCA2540601985PCK1c.536_537insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val180SerfsTer?)
n.1746_1747insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG
n.478_479insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG
c.140_141insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val48SerfsTer?)
20g.57562825_57562826insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCA2816822581PCK1c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val180SerfsTer?)
n.1746_1747insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG
n.478_479insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG
c.140_141insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val48SerfsTer?)
20g.57562825_57562826insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCA2518967867PCK1c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val180SerfsTer?)
n.1746_1747insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG
n.478_479insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG
c.140_141insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val48SerfsTer?)
20g.57562826C>ACA511310897PCK1c.537C>A (p.Pro179=)
n.1747C>A
n.479C>A
c.141C>A (p.Pro47=)
 dbSNP gnomAD v4
20g.57562826C=CA2371896289PCK1c.537C= (p.Pro179=)
n.1747C=
n.479C=
c.141C= (p.Pro47=)
20g.57562826C>GCA511310898PCK1c.537C>G (p.Pro179=)
n.1747C>G
n.479C>G
c.141C>G (p.Pro47=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562826C>TCA9922054PCK1c.537C>T (p.Pro179=)
n.1747C>T
n.479C>T
c.141C>T (p.Pro47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCA2519640346PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerVal)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerVal)
 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCA2547699019PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal)
20g.57562826_57562827insACA2653459777PCK1c.537_538insA (p.Val180SerfsTer?)
n.1747_1748insA
n.479_480insA
c.141_142insA (p.Val48SerfsTer?)
 gnomAD v4
20g.57562826_57562827insCTGGCA2816822589PCK1c.537_538insCTGG (p.Val180LeufsTer?)
n.1747_1748insCTGG
n.479_480insCTGG
c.141_142insCTGG (p.Val48LeufsTer?)
20g.57562827G>ACA9922055PCK1c.538G>A (p.Val180Ile)
n.1748G>A
n.480G>A
c.142G>A (p.Val48Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.57562827G>CCA409435196PCK1c.538G>C (p.Val180Leu)
n.1748G>C
n.480G>C
c.142G>C (p.Val48Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.57562827G=CA2371896290PCK1c.538G= (p.Val180=)
n.1748G=
n.480G=
c.142G= (p.Val48=)
20g.57562827G>TCA409435197PCK1c.538G>T (p.Val180Phe)
n.1748G>T
n.480G>T
c.142G>T (p.Val48Phe)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCA2816822584PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal)
20g.57562828T>ACA409435198PCK1c.539T>A (p.Val180Asp)
n.1749T>A
n.481T>A
c.143T>A (p.Val48Asp)
20g.57562828T>CCA409435199PCK1c.539T>C (p.Val180Ala)
n.1749T>C
n.481T>C
c.143T>C (p.Val48Ala)
20g.57562828T>GCA409435200PCK1c.539T>G (p.Val180Gly)
n.1749T>G
n.481T>G
c.143T>G (p.Val48Gly)
20g.57562828T=CA2371896291PCK1c.539T= (p.Val180=)
n.1749T=
n.481T=
c.143T= (p.Val48=)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCA2529192015PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTT (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPhe)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTT
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTT
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTT (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPhe)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCA2568177424PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPhe)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTT
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTT
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPhe)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCA2527723020PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA2524101159PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCA2816822591PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCA2500276495PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCA2569643471PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCA2550180903PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu)
20g.57562828_57562829insGTGGGACA1018823238PCK1c.539_540insGTGGGA (p.Val180_Leu181insTrpAsp)
n.1749_1750insGTGGGA
n.481_482insGTGGGA
c.143_144insGTGGGA (p.Val48_Leu49insTrpAsp)
 gnomAD v3 gnomAD v4
20g.57562828_57562829insGTGGGGCA2563614157PCK1c.539_540insGTGGGG (p.Val180_Leu181insTrpGly)
n.1749_1750insGTGGGG
n.481_482insGTGGGG
c.143_144insGTGGGG (p.Val48_Leu49insTrpGly)
20g.57562828_57562829insGTGGGACGTGCA2520460801PCK1c.539_540insGTGGGACGTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTG
n.481_482insGTGGGACGTG
c.143_144insGTGGGACGTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACA1018823239PCK1c.539_540insGTGGGACGTGCTGGGTA (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTA
n.481_482insGTGGGACGTGCTGGGTA
c.143_144insGTGGGACGTGCTGGGTA (p.Leu49TrpfsTer?)
 dbSNP gnomAD v3 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACA2816822611PCK1c.539_540insGTGGGACGTGCTGGGTACTGA (p.Val180_Leu181insTrpAspValLeuGlyThrAsp)
n.1749_1750insGTGGGACGTGCTGGGTACTGA
n.481_482insGTGGGACGTGCTGGGTACTGA
c.143_144insGTGGGACGTGCTGGGTACTGA (p.Val48_Leu49insTrpAspValLeuGlyThrAsp)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCA1018823242PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTG (p.Leu49TrpfsTer?)
 gnomAD v3 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCA2527876865PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCG
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCG
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCG (p.Leu49TrpfsTer?)
 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCA2548376558PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCA1018823246PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG (p.Leu49TrpfsTer?)
 gnomAD v3 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCA2566563297PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCA2530796521PCK1c.539_540insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG
n.481_482insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG
c.143_144insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCA2546376033PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCA2653459819PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG (p.Leu49TrpfsTer?)
 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCA2538161025PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACA2538196072PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHis)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHis)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACA636606547PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHis)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHis)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCA2500927694PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCA2553866984PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCA2540283274PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCA2570240463PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCA2544793088PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCA2568910800PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCA2511472861PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCA2537071975PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTGCA2567804412PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCA2547699824PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGly)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGly)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCA2541234214PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCA2567804846PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCA2816822606PCK1c.539_540insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC
n.481_482insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC
c.143_144insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCA2567048098PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCA2512247137PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCCCA2510446681PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCA636606545PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCA636606546PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?)
 gnomAD v2
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCA2508341901PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGCCA2524096091PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCA2501287247PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGCCA2510449841PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCA2525917106PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGCCA2556283789PCK1c.539_540insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC
n.481_482insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC
c.143_144insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGCCA2543789344PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCA2816822609PCK1c.539_540insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC
n.481_482insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC
c.143_144insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGCCA2501747735PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGCCA2503688971PCK1c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC
n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC
c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu49TrpfsTer?)
20g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACGCA2816822603PCK1c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG (p.Leu181TrpfsTer?)
n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG
n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG
c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG (p.Leu49TrpfsTer?)
20g.57562829C>ACA511310900PCK1c.540C>A (p.Val180=)
n.1750C>A
n.482C>A
c.144C>A (p.Val48=)
20g.57562829C=CA2371896292PCK1c.540C= (p.Val180=)
n.1750C=
n.482C=
c.144C= (p.Val48=)
20g.57562829C>GCA511310899PCK1c.540C>G (p.Val180=)
n.1750C>G
n.482C>G
c.144C>G (p.Val48=)
 dbSNP
20g.57562829C>TCA9922056PCK1c.540C>T (p.Val180=)
n.1750C>T
n.482C>T
c.144C>T (p.Val48=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562830delCA2518058309PCK1c.541del (p.Leu181TrpfsTer?)
n.1751del
n.483del
c.145del (p.Leu49TrpfsTer?)
20g.57562829_57562838delCA2529687719PCK1c.540_549del (p.Leu181TrpfsTer?)
n.1750_1759del
n.482_491del
c.144_153del (p.Leu49TrpfsTer?)
20g.57562829_57562830insGTGCA1018823248PCK1c.540_541insGTG (p.Val180_Leu181insVal)
n.1750_1751insGTG
n.482_483insGTG
c.144_145insGTG (p.Val48_Leu49insVal)
 gnomAD v3 gnomAD v4
20g.57562829_57562830insGTGCTGGGTACA2536699817PCK1c.540_541insGTGCTGGGTA (p.Leu181ValfsTer?)
n.1750_1751insGTGCTGGGTA
n.482_483insGTGCTGGGTA
c.144_145insGTGCTGGGTA (p.Leu49ValfsTer?)
 gnomAD v4
20g.57562829_57562830insGTGCTGGGTGCA2499894373PCK1c.540_541insGTGCTGGGTG (p.Leu181ValfsTer?)
n.1750_1751insGTGCTGGGTG
n.482_483insGTGCTGGGTG
c.144_145insGTGCTGGGTG (p.Leu49ValfsTer?)
20g.57562830C>ACA409435201PCK1c.541C>A (p.Leu181Met)
n.1751C>A
n.483C>A
c.145C>A (p.Leu49Met)
20g.57562830C=CA2371896293PCK1c.541C= (p.Leu181=)
n.1751C=
n.483C=
c.145C= (p.Leu49=)
20g.57562830C>GCA409435202PCK1c.541C>G (p.Leu181Val)
n.1751C>G
n.483C>G
c.145C>G (p.Leu49Val)
20g.57562830C>TCA511310901PCK1c.541C>T (p.Leu181=)
n.1751C>T
n.483C>T
c.145C>T (p.Leu49=)
20g.57562830_57562831insCGGCCGTCCACTCCGTCGGCGCCCCGCCA2816822617PCK1c.541_542insCGGCCGTCCACTCCGTCGGCGCCCCGC (p.Val180_Leu181insProAlaValHisSerValGlyAlaPro)
n.1751_1752insCGGCCGTCCACTCCGTCGGCGCCCCGC
n.483_484insCGGCCGTCCACTCCGTCGGCGCCCCGC
c.145_146insCGGCCGTCCACTCCGTCGGCGCCCCGC (p.Val48_Leu49insProAlaValHisSerValGlyAlaPro)
20g.57562830_57562831insACAGCGTCGGCACA2554207623PCK1c.541_542insACAGCGTCGGCA (p.Leu181delinsHisSerValGlyMet)
n.1751_1752insACAGCGTCGGCA
n.483_484insACAGCGTCGGCA
c.145_146insACAGCGTCGGCA (p.Leu49delinsHisSerValGlyMet)
20g.57562831T>ACA409435203PCK1c.542T>A (p.Leu181Gln)
n.1752T>A
n.484T>A
c.146T>A (p.Leu49Gln)
20g.57562831T>CCA409435204PCK1c.542T>C (p.Leu181Pro)
n.1752T>C
n.484T>C
c.146T>C (p.Leu49Pro)
20g.57562831T>GCA409435205PCK1c.542T>G (p.Leu181Arg)
n.1752T>G
n.484T>G
c.146T>G (p.Leu49Arg)
20g.57562831_57562832insTCGTCA2523589959PCK1c.542_543insTCGT (p.Glu182ArgfsTer?)
n.1752_1753insTCGT
n.484_485insTCGT
c.146_147insTCGT (p.Glu50ArgfsTer?)
 gnomAD v4
20g.57562831_57562832insTCGTGCCCGCCGTCA2538197156PCK1c.542_543insTCGTGCCCGCCGT (p.Glu182ArgfsTer?)
n.1752_1753insTCGTGCCCGCCGT
n.484_485insTCGTGCCCGCCGT
c.146_147insTCGTGCCCGCCGT (p.Glu50ArgfsTer?)
20g.57562831_57562832insTCGTGCCCGCCGTTCACAGCGTCGGCATCA636606549PCK1c.542_543insTCGTGCCCGCCGTTCACAGCGTCGGCAT (p.Glu182ArgfsTer?)
n.1752_1753insTCGTGCCCGCCGTTCACAGCGTCGGCAT
n.484_485insTCGTGCCCGCCGTTCACAGCGTCGGCAT
c.146_147insTCGTGCCCGCCGTTCACAGCGTCGGCAT (p.Glu50ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562831_57562832insTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTCA2508552396PCK1c.542_543insTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTT (p.Glu182ArgfsTer?)
n.1752_1753insTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTT
n.484_485insTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTT
c.146_147insTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTT (p.Glu50ArgfsTer?)
20g.57562831_57562832insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCACA2529687803PCK1c.542_543insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA (p.Glu182ArgfsTer?)
n.1752_1753insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA
n.484_485insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA
c.146_147insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA (p.Glu50ArgfsTer?)
20g.57562831_57562832insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCACA2502515755PCK1c.542_543insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA (p.Glu182ArgfsTer13)
n.1752_1753insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA
n.484_485insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA
c.146_147insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA (p.Glu50ArgfsTer13)
20g.57562832G>ACA511310902PCK1c.543G>A (p.Leu181=)
n.1753G>A
n.485G>A
c.147G>A (p.Leu49=)
 gnomAD v4
20g.57562832G>CCA511310904PCK1c.543G>C (p.Leu181=)
n.1753G>C
n.485G>C
c.147G>C (p.Leu49=)
 COSMIC COSMIC
20g.57562832G>TCA511310903PCK1c.543G>T (p.Leu181=)
n.1753G>T
n.485G>T
c.147G>T (p.Leu49=)
20g.57562832_57562833insCCGCTGCTCCA2557990197PCK1c.543_544insCCGCTGCTC (p.Leu181_Glu182insProLeuLeu)
n.1753_1754insCCGCTGCTC
n.485_486insCCGCTGCTC
c.147_148insCCGCTGCTC (p.Leu49_Glu50insProLeuLeu)
20g.57562833G>ACA409435206PCK1c.544G>A (p.Glu182Lys)
n.1754G>A
n.486G>A
c.148G>A (p.Glu50Lys)
 dbSNP
20g.57562833G>CCA409435207PCK1c.544G>C (p.Glu182Gln)
n.1754G>C
n.486G>C
c.148G>C (p.Glu50Gln)
20g.57562833G>TCA409435208PCK1c.544G>T (p.Glu182Ter)
n.1754G>T
n.486G>T
c.148G>T (p.Glu50Ter)
20g.57562833_57562834insGCGCTGCA2653459847PCK1c.544_545insGCGCTG (p.Leu181_Glu182insGlyAla)
n.1754_1755insGCGCTG
n.486_487insGCGCTG
c.148_149insGCGCTG (p.Leu49_Glu50insGlyAla)
 gnomAD v4
20g.57562833_57562834insGTACTGCA2560928948PCK1c.544_545insGTACTG (p.Leu181_Glu182insGlyThr)
n.1754_1755insGTACTG
n.486_487insGTACTG
c.148_149insGTACTG (p.Leu49_Glu50insGlyThr)
20g.57562833_57562834insCCGAGCACGAGCA2816822620PCK1c.544_545insCCGAGCACGAG (p.Glu182AlafsTer?)
n.1754_1755insCCGAGCACGAG
n.486_487insCCGAGCACGAG
c.148_149insCCGAGCACGAG (p.Glu50AlafsTer?)
20g.57562833_57562834insGTCA1018823252PCK1c.544_545insGT (p.Glu182GlyfsTer?)
n.1754_1755insGT
n.1-1_1insGT
n.486_487insGT
c.148_149insGT (p.Glu50GlyfsTer?)
 gnomAD v3 gnomAD v4
20g.57562834A=CA2371896294PCK1c.545A= (p.Glu182=)
n.1755A=
n.1A=
n.487A=
c.149A= (p.Glu50=)
20g.57562834A>CCA409435211PCK1c.545A>C (p.Glu182Ala)
n.1755A>C
n.1A>C
n.487A>C
c.149A>C (p.Glu50Ala)
20g.57562834A>GCA409435209PCK1c.545A>G (p.Glu182Gly)
n.1755A>G
n.1A>G
n.487A>G
c.149A>G (p.Glu50Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.57562834A>TCA409435210PCK1c.545A>T (p.Glu182Val)
n.1755A>T
n.1A>T
n.487A>T
c.149A>T (p.Glu50Val)
20g.57562834_57562835insCGGCGCCTTCGTGCCCGCCGTCCACCA2653459853PCK1c.545_546insCGGCGCCTTCGTGCCCGCCGTCCAC (p.Glu182AspfsTer?)
n.1755_1756insCGGCGCCTTCGTGCCCGCCGTCCAC
n.1_2insCGGCGCCTTCGTGCCCGCCGTCCAC
n.487_488insCGGCGCCTTCGTGCCCGCCGTCCAC
c.149_150insCGGCGCCTTCGTGCCCGCCGTCCAC (p.Glu50AspfsTer?)
 gnomAD v4
20g.57562834_57562835insCTGACGGTGCCTTCGTGCCCGCCGTTCACCA1018823256PCK1c.545_546insCTGACGGTGCCTTCGTGCCCGCCGTTCAC (p.Glu182AspfsTer2)
n.1755_1756insCTGACGGTGCCTTCGTGCCCGCCGTTCAC
n.1_2insCTGACGGTGCCTTCGTGCCCGCCGTTCAC
n.487_488insCTGACGGTGCCTTCGTGCCCGCCGTTCAC
c.149_150insCTGACGGTGCCTTCGTGCCCGCCGTTCAC (p.Glu50AspfsTer2)
 gnomAD v3 gnomAD v4
20g.57562835A=CA2371896295PCK1c.546A= (p.Glu182=)
n.1756A=
n.2A=
n.488A=
c.150A= (p.Glu50=)
20g.57562835A>CCA409435212PCK1c.546A>C (p.Glu182Asp)
n.1756A>C
n.2A>C
n.488A>C
c.150A>C (p.Glu50Asp)
20g.57562835A>GCA511310905PCK1c.546A>G (p.Glu182=)
n.1756A>G
n.2A>G
n.488A>G
c.150A>G (p.Glu50=)
 dbSNP
20g.57562835A>TCA409435213PCK1c.546A>T (p.Glu182Asp)
n.1756A>T
n.2A>T
n.488A>T
c.150A>T (p.Glu50Asp)
20g.57562836G>ACA409435214PCK1c.547G>A (p.Ala183Thr)
n.1757G>A
n.3G>A
n.489G>A
c.151G>A (p.Ala51Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.57562836G>CCA409435215PCK1c.547G>C (p.Ala183Pro)
n.1757G>C
n.3G>C
n.489G>C
c.151G>C (p.Ala51Pro)
20g.57562836G=CA2371896296PCK1c.547G= (p.Ala183=)
n.1757G=
n.3G=
n.489G=
c.151G= (p.Ala51=)
20g.57562836G>TCA409435216PCK1c.547G>T (p.Ala183Ser)
n.1757G>T
n.3G>T
n.489G>T
c.151G>T (p.Ala51Ser)
20g.57562836_57562837insGTGCCTTCGTGCCCGCCGTTCACA2500765339PCK1c.547_548insGTGCCTTCGTGCCCGCCGTTCA (p.Ala183GlyfsTer?)
n.1757_1758insGTGCCTTCGTGCCCGCCGTTCA
n.3_4insGTGCCTTCGTGCCCGCCGTTCA
n.489_490insGTGCCTTCGTGCCCGCCGTTCA
c.151_152insGTGCCTTCGTGCCCGCCGTTCA (p.Ala51GlyfsTer?)
20g.57562837C>ACA409435217PCK1c.548C>A (p.Ala183Glu)
n.1758C>A
n.4C>A
n.490C>A
c.152C>A (p.Ala51Glu)
 gnomAD v4
20g.57562837C>GCA409435219PCK1c.548C>G (p.Ala183Gly)
n.1758C>G
n.4C>G
n.490C>G
c.152C>G (p.Ala51Gly)
20g.57562837C>TCA409435218PCK1c.548C>T (p.Ala183Val)
n.1758C>T
n.4C>T
n.490C>T
c.152C>T (p.Ala51Val)
20g.57562838A=CA2371896297PCK1c.549A= (p.Ala183=)
n.1759A=
n.5A=
n.491A=
c.153A= (p.Ala51=)
20g.57562838A>CCA511310906PCK1c.549A>C (p.Ala183=)
n.1759A>C
n.5A>C
n.491A>C
c.153A>C (p.Ala51=)
 dbSNP
20g.57562838A>GCA511310907PCK1c.549A>G (p.Ala183=)
n.1759A>G
n.5A>G
n.491A>G
c.153A>G (p.Ala51=)
 gnomAD v4
20g.57562838A>TCA511310908PCK1c.549A>T (p.Ala183=)
n.1759A>T
n.5A>T
n.491A>T
c.153A>T (p.Ala51=)
20g.57562839G>ACA409435220PCK1c.550G>A (p.Val184Met)
n.1760G>A
n.6G>A
n.492G>A
c.154G>A (p.Val52Met)
 gnomAD v3 gnomAD v4
20g.57562839G>CCA9922057PCK1c.550G>C (p.Val184Leu)
n.1760G>C
n.6G>C
n.492G>C
c.154G>C (p.Val52Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562839G=CA2371896298PCK1c.550G= (p.Val184=)
n.1760G=
n.6G=
n.492G=
c.154G= (p.Val52=)
20g.57562839G>TCA409435221PCK1c.550G>T (p.Val184Leu)
n.1760G>T
n.6G>T
n.492G>T
c.154G>T (p.Val52Leu)
 dbSNP gnomAD v4
20g.57562840T>ACA409435222PCK1c.551T>A (p.Val184Glu)
n.1761T>A
n.7T>A
n.493T>A
c.155T>A (p.Val52Glu)
20g.57562840T>CCA409435223PCK1c.551T>C (p.Val184Ala)
n.1761T>C
n.7T>C
n.493T>C
c.155T>C (p.Val52Ala)
20g.57562840T>GCA409435224PCK1c.551T>G (p.Val184Gly)
n.1761T>G
n.7T>G
n.493T>G
c.155T>G (p.Val52Gly)
20g.57562841G>ACA511310909PCK1c.552G>A (p.Val184=)
n.1762G>A
n.8G>A
n.494G>A
c.156G>A (p.Val52=)
20g.57562841G>CCA511310910PCK1c.552G>C (p.Val184=)
n.1762G>C
n.8G>C
n.494G>C
c.156G>C (p.Val52=)
20g.57562841G>TCA511310911PCK1c.552G>T (p.Val184=)
n.1762G>T
n.8G>T
n.494G>T
c.156G>T (p.Val52=)
20g.57562842G>ACA9922058PCK1c.553G>A (p.Gly185Ser)
n.1763G>A
n.9G>A
n.495G>A
c.157G>A (p.Gly53Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562842G>CCA409435225PCK1c.553G>C (p.Gly185Arg)
n.1763G>C
n.9G>C
n.495G>C
c.157G>C (p.Gly53Arg)
20g.57562842G=CA2371896299PCK1c.553G= (p.Gly185=)
n.1763G=
n.9G=
n.495G=
c.157G= (p.Gly53=)
20g.57562842G>TCA409435226PCK1c.553G>T (p.Gly185Cys)
n.1763G>T
n.9G>T
n.495G>T
c.157G>T (p.Gly53Cys)
20g.57562843G>ACA409435227PCK1c.554G>A (p.Gly185Asp)
n.1764G>A
n.10G>A
n.496G>A
c.158G>A (p.Gly53Asp)
20g.57562843G>CCA409435228PCK1c.554G>C (p.Gly185Ala)
n.1764G>C
n.10G>C
n.496G>C
c.158G>C (p.Gly53Ala)
20g.57562843G>TCA409435229PCK1c.554G>T (p.Gly185Val)
n.1764G>T
n.10G>T
n.496G>T
c.158G>T (p.Gly53Val)
20g.57562844delCA2653459874PCK1c.555del (p.Asp186MetfsTer?)
n.1765del
n.11del
n.497del
c.159del (p.Asp54MetfsTer?)
 gnomAD v4
20g.57562844C>ACA511310912PCK1c.555C>A (p.Gly185=)
n.1765C>A
n.11C>A
n.497C>A
c.159C>A (p.Gly53=)
 dbSNP gnomAD v4
20g.57562844C=CA2371896300PCK1c.555C= (p.Gly185=)
n.1765C=
n.11C=
n.497C=
c.159C= (p.Gly53=)
20g.57562844C>GCA511310913PCK1c.555C>G (p.Gly185=)
n.1765C>G
n.11C>G
n.497C>G
c.159C>G (p.Gly53=)
20g.57562844C>TCA511310914PCK1c.555C>T (p.Gly185=)
n.1765C>T
n.11C>T
n.497C>T
c.159C>T (p.Gly53=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.57562845G>ACA9922059PCK1c.556G>A (p.Asp186Asn)
n.1766G>A
n.12G>A
n.498G>A
c.160G>A (p.Asp54Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.57562845G>CCA409435231PCK1c.556G>C (p.Asp186His)
n.1766G>C
n.12G>C
n.498G>C
c.160G>C (p.Asp54His)
20g.57562845G=CA2371896301PCK1c.556G= (p.Asp186=)
n.1766G=
n.12G=
n.498G=
c.160G= (p.Asp54=)
20g.57562845G>TCA409435230PCK1c.556G>T (p.Asp186Tyr)
n.1766G>T
n.12G>T
n.498G>T
c.160G>T (p.Asp54Tyr)
 gnomAD v4
20g.57562846A=CA2371896302PCK1c.557A= (p.Asp186=)
n.1767A=
n.13A=
n.499A=
c.161A= (p.Asp54=)
20g.57562846A>CCA409435232PCK1c.557A>C (p.Asp186Ala)
n.1767A>C
n.13A>C
n.499A>C
c.161A>C (p.Asp54Ala)
20g.57562846A>GCA9922060PCK1c.557A>G (p.Asp186Gly)
n.1767A>G
n.13A>G
n.499A>G
c.161A>G (p.Asp54Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562846A>TCA409435233PCK1c.557A>T (p.Asp186Val)
n.1767A>T
n.13A>T
n.499A>T
c.161A>T (p.Asp54Val)
 dbSNP
20g.57562847T>ACA409435234PCK1c.558T>A (p.Asp186Glu)
n.1768T>A
n.14T>A
n.500T>A
c.162T>A (p.Asp54Glu)
20g.57562847T>CCA9922061PCK1c.558T>C (p.Asp186=)
n.1768T>C
n.14T>C
n.500T>C
c.162T>C (p.Asp54=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562847T>GCA409435235PCK1c.558T>G (p.Asp186Glu)
n.1768T>G
n.14T>G
n.500T>G
c.162T>G (p.Asp54Glu)
20g.57562847T=CA2371896303PCK1c.558T= (p.Asp186=)
n.1768T=
n.14T=
n.500T=
c.162T= (p.Asp54=)
20g.57562848G>ACA409435236PCK1c.559G>A (p.Gly187Arg)
n.1769G>A
n.15G>A
n.501G>A
c.163G>A (p.Gly55Arg)
 dbSNP
20g.57562848G>CCA409435237PCK1c.559G>C (p.Gly187Arg)
n.1769G>C
n.15G>C
n.501G>C
c.163G>C (p.Gly55Arg)
20g.57562848G>TCA409435238PCK1c.559G>T (p.Gly187Trp)
n.1769G>T
n.15G>T
n.501G>T
c.163G>T (p.Gly55Trp)
20g.57562851delCA2577433687PCK1c.562del (p.Glu188SerfsTer29)
n.1772del
n.18del
n.504del
c.166del (p.Glu56SerfsTer29)
20g.57562849G>ACA409435239PCK1c.560G>A (p.Gly187Glu)
n.1770G>A
n.16G>A
n.502G>A
c.164G>A (p.Gly55Glu)
 dbSNP gnomAD v3 gnomAD v4
20g.57562849G>CCA409435240PCK1c.560G>C (p.Gly187Ala)
n.1770G>C
n.16G>C
n.502G>C
c.164G>C (p.Gly55Ala)
 gnomAD v4
20g.57562849G=CA2371896304PCK1c.560G= (p.Gly187=)
n.1770G=
n.16G=
n.502G=
c.164G= (p.Gly55=)
20g.57562849G>TCA409435241PCK1c.560G>T (p.Gly187Val)
n.1770G>T
n.16G>T
n.502G>T
c.164G>T (p.Gly55Val)
 dbSNP
20g.57562850G>ACA511310915PCK1c.561G>A (p.Gly187=)
n.1771G>A
n.17G>A
n.503G>A
c.165G>A (p.Gly55=)
 gnomAD v4
20g.57562850G>CCA511310916PCK1c.561G>C (p.Gly187=)
n.1771G>C
n.17G>C
n.503G>C
c.165G>C (p.Gly55=)
20g.57562850G=CA2371896305PCK1c.561G= (p.Gly187=)
n.1771G=
n.17G=
n.503G=
c.165G= (p.Gly55=)
20g.57562850G>TCA511310917PCK1c.561G>T (p.Gly187=)
n.1771G>T
n.17G>T
n.503G>T
c.165G>T (p.Gly55=)
20g.57562850_57562851insTGGGCACTGGTGAGAAATCA920241493PCK1c.561_562insTGGGCACTGGTGAGAAAT (p.Gly187_Glu188insTrpAlaLeuValArgAsn)
n.1771_1772insTGGGCACTGGTGAGAAAT
n.17_18insTGGGCACTGGTGAGAAAT
n.503_504insTGGGCACTGGTGAGAAAT
c.165_166insTGGGCACTGGTGAGAAAT (p.Gly55_Glu56insTrpAlaLeuValArgAsn)
 dbSNP
20g.57562851G>ACA409435242PCK1c.562G>A (p.Glu188Lys)
n.1772G>A
n.18G>A
n.504G>A
c.166G>A (p.Glu56Lys)
 gnomAD v4
20g.57562851G>CCA409435243PCK1c.562G>C (p.Glu188Gln)
n.1772G>C
n.18G>C
n.504G>C
c.166G>C (p.Glu56Gln)
20g.57562851G>TCA409435244PCK1c.562G>T (p.Glu188Ter)
n.1772G>T
n.18G>T
n.504G>T
c.166G>T (p.Glu56Ter)
20g.57562852A>CCA409435245PCK1c.563A>C (p.Glu188Ala)
n.1773A>C
n.19A>C
n.505A>C
c.167A>C (p.Glu56Ala)
20g.57562852A>GCA409435246PCK1c.563A>G (p.Glu188Gly)
n.1773A>G
n.19A>G
n.505A>G
c.167A>G (p.Glu56Gly)
 gnomAD v4
20g.57562852A>TCA409435247PCK1c.563A>T (p.Glu188Val)
n.1773A>T
n.19A>T
n.505A>T
c.167A>T (p.Glu56Val)
20g.57562853G>ACA9922062PCK1c.564G>A (p.Glu188=)
n.1774G>A
n.20G>A
n.506G>A
c.168G>A (p.Glu56=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57562853G>CCA409435248PCK1c.564G>C (p.Glu188Asp)
n.1774G>C
n.20G>C
n.506G>C
c.168G>C (p.Glu56Asp)
20g.57562853G=CA2371896306PCK1c.564G= (p.Glu188=)
n.1774G=
n.20G=
n.506G=
c.168G= (p.Glu56=)
20g.57562853G>TCA409435249PCK1c.564G>T (p.Glu188Asp)
n.1774G>T
n.20G>T
n.506G>T
c.168G>T (p.Glu56Asp)
20g.57562854T>ACA409435250PCK1c.565T>A (p.Phe189Ile)
n.1775T>A
n.21T>A
n.507T>A
c.169T>A (p.Phe57Ile)
20g.57562854T>CCA409435251PCK1c.565T>C (p.Phe189Leu)
n.1775T>C
n.21T>C
n.507T>C
c.169T>C (p.Phe57Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.57562854T>GCA409435252PCK1c.565T>G (p.Phe189Val)
n.1775T>G
n.21T>G
n.507T>G
c.169T>G (p.Phe57Val)
 dbSNP gnomAD v3 gnomAD v4
20g.57562854T=CA2371896307PCK1c.565T= (p.Phe189=)
n.1775T=
n.21T=
n.507T=
c.169T= (p.Phe57=)
20g.57562855T>ACA409435253PCK1c.566T>A (p.Phe189Tyr)
n.1776T>A
n.22T>A
n.508T>A
c.170T>A (p.Phe57Tyr)
20g.57562855T>CCA409435254PCK1c.566T>C (p.Phe189Ser)
n.1776T>C
n.22T>C
n.508T>C
c.170T>C (p.Phe57Ser)
20g.57562855T>GCA409435255PCK1c.566T>G (p.Phe189Cys)
n.1776T>G
n.22T>G
n.508T>G
c.170T>G (p.Phe57Cys)
 dbSNP
20g.57562855T=CA2371896308PCK1c.566T= (p.Phe189=)
n.1776T=
n.22T=
n.508T=
c.170T= (p.Phe57=)
20g.57562856T>ACA409435256PCK1c.567T>A (p.Phe189Leu)
n.1777T>A
n.23T>A
n.509T>A
c.171T>A (p.Phe57Leu)
20g.57562856T>CCA511310918PCK1c.567T>C (p.Phe189=)
n.1777T>C
n.23T>C
n.509T>C
c.171T>C (p.Phe57=)
 dbSNP
20g.57562856T>GCA409435257PCK1c.567T>G (p.Phe189Leu)
n.1777T>G
n.23T>G
n.509T>G
c.171T>G (p.Phe57Leu)
20g.57562856T=CA2371896309PCK1c.567T= (p.Phe189=)
n.1777T=
n.23T=
n.509T=
c.171T= (p.Phe57=)
20g.57562857G>ACA409435258PCK1c.568G>A (p.Val190Ile)
n.1778G>A
n.24G>A
n.510G>A
c.172G>A (p.Val58Ile)
 dbSNP
20g.57562857G>CCA409435259PCK1c.568G>C (p.Val190Leu)
n.1778G>C
n.24G>C
n.510G>C
c.172G>C (p.Val58Leu)
20g.57562857G=CA2371896310PCK1c.568G= (p.Val190=)
n.1778G=
n.24G=
n.510G=
c.172G= (p.Val58=)
20g.57562857G>TCA409435260PCK1c.568G>T (p.Val190Phe)
n.1778G>T
n.24G>T
n.510G>T
c.172G>T (p.Val58Phe)
20g.57562858T>ACA409435263PCK1c.569T>A (p.Val190Asp)
n.1779T>A
n.25T>A
n.511T>A
c.173T>A (p.Val58Asp)
20g.57562858T>CCA409435262PCK1c.569T>C (p.Val190Ala)
n.1779T>C
n.25T>C
n.511T>C
c.173T>C (p.Val58Ala)
20g.57562858T>GCA409435261PCK1c.569T>G (p.Val190Gly)
n.1779T>G
n.25T>G
n.511T>G
c.173T>G (p.Val58Gly)
20g.57562859C>ACA511310919PCK1c.570C>A (p.Val190=)
n.1780C>A
n.26C>A
n.512C>A
c.174C>A (p.Val58=)
 dbSNP
20g.57562859C>GCA511310920PCK1c.570C>G (p.Val190=)
n.1780C>G
n.26C>G
n.512C>G
c.174C>G (p.Val58=)
20g.57562859C>TCA511310921PCK1c.570C>T (p.Val190=)
n.1780C>T
n.26C>T
n.512C>T
c.174C>T (p.Val58=)
 COSMIC COSMIC
20g.57562860A=CA2371896311PCK1c.571A= (p.Lys191=)
n.1781A=
n.27A=
n.513A=
c.175A= (p.Lys59=)
20g.57562860A>CCA9922063PCK1c.571A>C (p.Lys191Gln)
n.1781A>C
n.27A>C
n.513A>C
c.175A>C (p.Lys59Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.57562860A>GCA409435264PCK1c.571A>G (p.Lys191Glu)
n.1781A>G
n.27A>G
n.513A>G
c.175A>G (p.Lys59Glu)
20g.57562860A>TCA409435265PCK1c.571A>T (p.Lys191Ter)
n.1781A>T
n.27A>T
n.513A>T
c.175A>T (p.Lys59Ter)
20g.57562861A>CCA409435266PCK1c.572A>C (p.Lys191Thr)
n.1782A>C
n.28A>C
n.514A>C
c.176A>C (p.Lys59Thr)
20g.57562861A>GCA409435267PCK1c.572A>G (p.Lys191Arg)
n.1782A>G
n.28A>G
n.514A>G
c.176A>G (p.Lys59Arg)
20g.57562861A>TCA409435268PCK1c.572A>T (p.Lys191Ile)
n.1782A>T
n.28A>T
n.514A>T
c.176A>T (p.Lys59Ile)
20g.57562862A=CA2371896312PCK1c.573A= (p.Lys191=)
n.1783A=
n.29A=
n.515A=
c.177A= (p.Lys59=)
20g.57562862A>CCA409435269PCK1c.573A>C (p.Lys191Asn)
n.1783A>C
n.29A>C
n.515A>C
c.177A>C (p.Lys59Asn)
20g.57562862A>GCA511310922PCK1c.573A>G (p.Lys191=)
n.1783A>G
n.29A>G
n.515A>G
c.177A>G (p.Lys59=)
 dbSNP gnomAD v4
20g.57562862A>TCA409435270PCK1c.573A>T (p.Lys191Asn)
n.1783A>T
n.29A>T
n.515A>T
c.177A>T (p.Lys59Asn)
20g.57562863T>ACA409435271PCK1c.574T>A (p.Cys192Ser)
n.1784T>A
n.30T>A
n.516T>A
c.178T>A (p.Cys60Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.57562863T>CCA409435272PCK1c.574T>C (p.Cys192Arg)
n.1784T>C
n.30T>C
n.516T>C
c.178T>C (p.Cys60Arg)
 ClinVar
20g.57562863T>GCA409435273PCK1c.574T>G (p.Cys192Gly)
n.1784T>G
n.30T>G
n.516T>G
c.178T>G (p.Cys60Gly)
20g.57562863T=CA2371896313PCK1c.574T= (p.Cys192=)
n.1784T=
n.30T=
n.516T=
c.178T= (p.Cys60=)
20g.57562864G>ACA409435274PCK1c.575G>A (p.Cys192Tyr)
n.1785G>A
n.31G>A
n.517G>A
c.179G>A (p.Cys60Tyr)
20g.57562864G>CCA409435275PCK1c.575G>C (p.Cys192Ser)
n.1785G>C
n.31G>C
n.517G>C
c.179G>C (p.Cys60Ser)
20g.57562864G>TCA409435276PCK1c.575G>T (p.Cys192Phe)
n.1785G>T
n.31G>T
n.517G>T
c.179G>T (p.Cys60Phe)
20g.57562865C>ACA409435277PCK1c.576C>A (p.Cys192Ter)
n.1786C>A
n.32C>A
n.518C>A
c.180C>A (p.Cys60Ter)
 dbSNP gnomAD v4
20g.57562865C>GCA409435278PCK1c.576C>G (p.Cys192Trp)
n.1786C>G
n.32C>G
n.518C>G
c.180C>G (p.Cys60Trp)
20g.57562865C>TCA511310923PCK1c.576C>T (p.Cys192=)
n.1786C>T
n.32C>T
n.518C>T
c.180C>T (p.Cys60=)
 dbSNP gnomAD v4

Number of alleles fetched