Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.57565475_57565478dupCA2653461896PCK1c.1540_1543dup (p.Asn515SerfsTer?)
n.4182_4185dup
c.1144_1147dup (p.Asn383SerfsTer?)
gnomAD v4
20g.57565477C>ACA511311012PCK1c.1542C>A (p.Val514=)
n.4184C>A
c.1146C>A (p.Val382=)
20g.57565477C>GCA511311013PCK1c.1542C>G (p.Val514=)
n.4184C>G
c.1146C>G (p.Val382=)
20g.57565477C>TCA511311014PCK1c.1542C>T (p.Val514=)
n.4184C>T
c.1146C>T (p.Val382=)
20g.57565478A=CA2371897589PCK1c.1543A= (p.Asn515=)
n.4185A=
c.1147A= (p.Asn383=)
20g.57565478A>CCA409437398PCK1c.1543A>C (p.Asn515His)
n.4185A>C
c.1147A>C (p.Asn383His)
gnomAD v4
20g.57565478A>GCA409437399PCK1c.1543A>G (p.Asn515Asp)
n.4185A>G
c.1147A>G (p.Asn383Asp)
dbSNP gnomAD v3 gnomAD v4
20g.57565478A>TCA409437400PCK1c.1543A>T (p.Asn515Tyr)
n.4185A>T
c.1147A>T (p.Asn383Tyr)
20g.57565479A=CA2371897590PCK1c.1544A= (p.Asn515=)
n.4186A=
c.1148A= (p.Asn383=)
20g.57565479A>CCA9922419PCK1c.1544A>C (p.Asn515Thr)
n.4186A>C
c.1148A>C (p.Asn383Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.57565479A>GCA409437401PCK1c.1544A>G (p.Asn515Ser)
n.4186A>G
c.1148A>G (p.Asn383Ser)
20g.57565479A>TCA409437402PCK1c.1544A>T (p.Asn515Ile)
n.4186A>T
c.1148A>T (p.Asn383Ile)
dbSNP gnomAD v3 gnomAD v4
20g.57565480C>ACA409437403PCK1c.1545C>A (p.Asn515Lys)
n.4187C>A
c.1149C>A (p.Asn383Lys)
20g.57565480C>GCA409437404PCK1c.1545C>G (p.Asn515Lys)
n.4187C>G
c.1149C>G (p.Asn383Lys)
20g.57565480C>TCA511311015PCK1c.1545C>T (p.Asn515=)
n.4187C>T
c.1149C>T (p.Asn383=)
20g.57565481T>ACA409437405PCK1c.1546T>A (p.Trp516Arg)
n.4188T>A
c.1150T>A (p.Trp384Arg)
gnomAD v4
20g.57565481T>CCA409437406PCK1c.1546T>C (p.Trp516Arg)
n.4188T>C
c.1150T>C (p.Trp384Arg)
20g.57565481T>GCA409437407PCK1c.1546T>G (p.Trp516Gly)
n.4188T>G
c.1150T>G (p.Trp384Gly)
20g.57565482G>ACA409437409PCK1c.1547G>A (p.Trp516Ter)
n.4189G>A
c.1151G>A (p.Trp384Ter)
dbSNP
20g.57565482G>CCA409437410PCK1c.1547G>C (p.Trp516Ser)
n.4189G>C
c.1151G>C (p.Trp384Ser)
20g.57565482G=CA2371897591PCK1c.1547G= (p.Trp516=)
n.4189G=
c.1151G= (p.Trp384=)
20g.57565482G>TCA409437408PCK1c.1547G>T (p.Trp516Leu)
n.4189G>T
c.1151G>T (p.Trp384Leu)
dbSNP gnomAD v2 gnomAD v4
20g.57565483G>ACA409437411PCK1c.1548G>A (p.Trp516Ter)
n.4190G>A
c.1152G>A (p.Trp384Ter)
dbSNP
20g.57565483G>CCA409437412PCK1c.1548G>C (p.Trp516Cys)
n.4190G>C
c.1152G>C (p.Trp384Cys)
gnomAD v4
20g.57565483G>TCA409437413PCK1c.1548G>T (p.Trp516Cys)
n.4190G>T
c.1152G>T (p.Trp384Cys)
20g.57565484T>ACA409437414PCK1c.1549T>A (p.Phe517Ile)
n.4191T>A
c.1153T>A (p.Phe385Ile)
20g.57565484T>CCA409437415PCK1c.1549T>C (p.Phe517Leu)
n.4191T>C
c.1153T>C (p.Phe385Leu)
20g.57565484T>GCA409437416PCK1c.1549T>G (p.Phe517Val)
n.4191T>G
c.1153T>G (p.Phe385Val)
20g.57565485T>ACA409437417PCK1c.1550T>A (p.Phe517Tyr)
n.4192T>A
c.1154T>A (p.Phe385Tyr)
dbSNP
20g.57565485T>CCA409437418PCK1c.1550T>C (p.Phe517Ser)
n.4192T>C
c.1154T>C (p.Phe385Ser)
20g.57565485T>GCA409437419PCK1c.1550T>G (p.Phe517Cys)
n.4192T>G
c.1154T>G (p.Phe385Cys)
20g.57565486C>ACA409437420PCK1c.1551C>A (p.Phe517Leu)
n.4193C>A
c.1155C>A (p.Phe385Leu)
20g.57565486C>GCA409437421PCK1c.1551C>G (p.Phe517Leu)
n.4193C>G
c.1155C>G (p.Phe385Leu)
dbSNP
20g.57565486C>TCA511311016PCK1c.1551C>T (p.Phe517=)
n.4193C>T
c.1155C>T (p.Phe385=)
dbSNP
20g.57565487C>ACA511311017PCK1c.1552C>A (p.Arg518=)
n.4194C>A
c.1156C>A (p.Arg386=)
20g.57565487C=CA2371897592PCK1c.1552C= (p.Arg518=)
n.4194C=
c.1156C= (p.Arg386=)
20g.57565487C>GCA409437422PCK1c.1552C>G (p.Arg518Gly)
n.4194C>G
c.1156C>G (p.Arg386Gly)
dbSNP
20g.57565487C>TCA9922420PCK1c.1552C>T (p.Arg518Trp)
n.4194C>T
c.1156C>T (p.Arg386Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57565488G>ACA9922421PCK1c.1553G>A (p.Arg518Gln)
n.4195G>A
c.1157G>A (p.Arg386Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.57565488G>CCA409437424PCK1c.1553G>C (p.Arg518Pro)
n.4195G>C
c.1157G>C (p.Arg386Pro)
20g.57565488G=CA2371897593PCK1c.1553G= (p.Arg518=)
n.4195G=
c.1157G= (p.Arg386=)
20g.57565488G>TCA409437423PCK1c.1553G>T (p.Arg518Leu)
n.4195G>T
c.1157G>T (p.Arg386Leu)
20g.57565489G>ACA511311020PCK1c.1554G>A (p.Arg518=)
n.4196G>A
c.1158G>A (p.Arg386=)
20g.57565489G>CCA511311019PCK1c.1554G>C (p.Arg518=)
n.4196G>C
c.1158G>C (p.Arg386=)
dbSNP
20g.57565489G>TCA511311018PCK1c.1554G>T (p.Arg518=)
n.4196G>T
c.1158G>T (p.Arg386=)
COSMIC
20g.57565490A>CCA409437425PCK1c.1555A>C (p.Lys519Gln)
n.4197A>C
c.1159A>C (p.Lys387Gln)
20g.57565490A>GCA409437426PCK1c.1555A>G (p.Lys519Glu)
n.4197A>G
c.1159A>G (p.Lys387Glu)
20g.57565490A>TCA409437427PCK1c.1555A>T (p.Lys519Ter)
n.4197A>T
c.1159A>T (p.Lys387Ter)
20g.57565491A>CCA409437428PCK1c.1556A>C (p.Lys519Thr)
n.4198A>C
c.1160A>C (p.Lys387Thr)
20g.57565491A>GCA409437429PCK1c.1556A>G (p.Lys519Arg)
n.4198A>G
c.1160A>G (p.Lys387Arg)

Number of alleles fetched