Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.28776840_28776855delCA2658422825PPP1CBc.53-11_57del
c.-32-11_-28del
c.20-11_24del
n.167-11_171del
 gnomAD v4
2g.28776849A>CCA346580609PPP1CBc.53-2A>C (n.53-2A>C)
c.-32-2A>C (n.-32-2A>C)
c.20-2A>C (n.20-2A>C)
n.167-2A>C
2g.28776849A>GCA346580611PPP1CBc.53-2A>G (n.53-2A>G)
c.-32-2A>G (n.-32-2A>G)
c.20-2A>G (n.20-2A>G)
n.167-2A>G
 gnomAD v4
2g.28776849A>TCA346580613PPP1CBc.53-2A>T (n.53-2A>T)
c.-32-2A>T (n.-32-2A>T)
c.20-2A>T (n.20-2A>T)
n.167-2A>T
2g.28776850G>ACA346580617PPP1CBc.53-1G>A (n.53-1G>A)
c.-32-1G>A (n.-32-1G>A)
c.20-1G>A (n.20-1G>A)
n.167-1G>A
 gnomAD v4
2g.28776850G>CCA346580619PPP1CBc.53-1G>C (n.53-1G>C)
c.-32-1G>C (n.-32-1G>C)
c.20-1G>C (n.20-1G>C)
n.167-1G>C
 gnomAD v4
2g.28776850G>TCA346580616PPP1CBc.53-1G>T (n.53-1G>T)
c.-32-1G>T (n.-32-1G>T)
c.20-1G>T (n.20-1G>T)
n.167-1G>T
2g.28776851T>ACA346580621PPP1CBc.53T>A (p.Val18Glu)
c.-32T>A (n.-32T>A)
c.20T>A (p.Leu7Ter)
n.167T>A
2g.28776851T>CCA346580623PPP1CBc.53T>C (p.Val18Ala)
c.-32T>C (n.-32T>C)
c.20T>C (p.Leu7Ser)
n.167T>C
 gnomAD v4
2g.28776851T>GCA346580625PPP1CBc.53T>G (p.Val18Gly)
c.-32T>G (n.-32T>G)
c.20T>G (p.Leu7Ter)
n.167T>G
2g.28776852A>CCA425498933PPP1CBc.54A>C (p.Val18=)
c.-31A>C (n.-31A>C)
c.21A>C (p.Leu7Phe)
n.168A>C
2g.28776852A>GCA425498936PPP1CBc.54A>G (p.Val18=)
c.-31A>G (n.-31A>G)
c.21A>G (p.Leu7=)
n.168A>G
2g.28776852A>TCA425498938PPP1CBc.54A>T (p.Val18=)
c.-31A>T (n.-31A>T)
c.21A>T (p.Leu7Phe)
n.168A>T
2g.28776853C>ACA425498943PPP1CBc.55C>A (p.Arg19=)
c.-30C>A (n.-30C>A)
c.22C>A (p.Arg8=)
n.169C>A
2g.28776853C>GCA346580626PPP1CBc.55C>G (p.Arg19Gly)
c.-30C>G (n.-30C>G)
c.22C>G (p.Arg8Gly)
n.169C>G
2g.28776853C>TCA346580627PPP1CBc.55C>T (p.Arg19Ter)
c.-30C>T (n.-30C>T)
c.22C>T (p.Arg8Ter)
n.169C>T
2g.28776854G>ACA346580628PPP1CBc.56G>A (p.Arg19Gln)
c.-29G>A (n.-29G>A)
c.23G>A (p.Arg8Gln)
n.170G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.28776854G>CCA346580629PPP1CBc.56G>C (p.Arg19Pro)
c.-29G>C (n.-29G>C)
c.23G>C (p.Arg8Pro)
n.170G>C
2g.28776854G=CA1240875807PPP1CBc.56G= (p.Arg19=)
c.-29G= (n.-29G=)
c.23G= (p.Arg8=)
n.170G=
2g.28776854G>TCA346580630PPP1CBc.56G>T (p.Arg19Leu)
c.-29G>T (n.-29G>T)
c.23G>T (p.Arg8Leu)
n.170G>T
2g.28776855A>CCA425498968PPP1CBc.57A>C (p.Arg19=)
c.-28A>C (n.-28A>C)
c.24A>C (p.Arg8=)
n.171A>C
 gnomAD v4
2g.28776855A>GCA425498972PPP1CBc.57A>G (p.Arg19=)
c.-28A>G (n.-28A>G)
c.24A>G (p.Arg8=)
n.171A>G
2g.28776855A>TCA425498977PPP1CBc.57A>T (p.Arg19=)
c.-28A>T (n.-28A>T)
c.24A>T (p.Arg8=)
n.171A>T
2g.28776856G>ACA346580631PPP1CBc.58G>A (p.Gly20Arg)
c.-27G>A (n.-27G>A)
c.25G>A (p.Gly9Arg)
n.172G>A
2g.28776856G>CCA346580632PPP1CBc.58G>C (p.Gly20Arg)
c.-27G>C (n.-27G>C)
c.25G>C (p.Gly9Arg)
n.172G>C
2g.28776856G>TCA346580633PPP1CBc.58G>T (p.Gly20Ter)
c.-27G>T (n.-27G>T)
c.25G>T (p.Gly9Ter)
n.172G>T
2g.28776857G>ACA346580634PPP1CBc.59G>A (p.Gly20Glu)
c.-26G>A (n.-26G>A)
c.26G>A (p.Gly9Glu)
n.173G>A
2g.28776857G>CCA346580635PPP1CBc.59G>C (p.Gly20Ala)
c.-26G>C (n.-26G>C)
c.26G>C (p.Gly9Ala)
n.173G>C
2g.28776857G>TCA346580636PPP1CBc.59G>T (p.Gly20Val)
c.-26G>T (n.-26G>T)
c.26G>T (p.Gly9Val)
n.173G>T
2g.28776858A=CA1240875810PPP1CBc.60A= (p.Gly20=)
c.-25A= (n.-25A=)
c.27A= (p.Gly9=)
n.174A=
2g.28776858A>CCA425498994PPP1CBc.60A>C (p.Gly20=)
c.-25A>C (n.-25A>C)
c.27A>C (p.Gly9=)
n.174A>C
2g.28776858A>GCA1589163PPP1CBc.60A>G (p.Gly20=)
c.-25A>G (n.-25A>G)
c.27A>G (p.Gly9=)
n.174A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.28776858A>TCA425499008PPP1CBc.60A>T (p.Gly20=)
c.-25A>T (n.-25A>T)
c.27A>T (p.Gly9=)
n.174A>T
2g.28776859T>ACA346580637PPP1CBc.61T>A (p.Cys21Ser)
c.-24T>A (n.-24T>A)
c.28T>A (p.Cys10Ser)
n.175T>A
2g.28776859T>CCA346580638PPP1CBc.61T>C (p.Cys21Arg)
c.-24T>C (n.-24T>C)
c.28T>C (p.Cys10Arg)
n.175T>C
2g.28776859T>GCA346580639PPP1CBc.61T>G (p.Cys21Gly)
c.-24T>G (n.-24T>G)
c.28T>G (p.Cys10Gly)
n.175T>G
2g.28776860G>ACA346580640PPP1CBc.62G>A (p.Cys21Tyr)
c.-23G>A (n.-23G>A)
c.29G>A (p.Cys10Tyr)
n.176G>A
2g.28776860G>CCA346580641PPP1CBc.62G>C (p.Cys21Ser)
c.-23G>C (n.-23G>C)
c.29G>C (p.Cys10Ser)
n.176G>C
2g.28776860G>TCA346580642PPP1CBc.62G>T (p.Cys21Phe)
c.-23G>T (n.-23G>T)
c.29G>T (p.Cys10Phe)
n.176G>T
2g.28776861T>ACA346580643PPP1CBc.63T>A (p.Cys21Ter)
c.-22T>A (n.-22T>A)
c.30T>A (p.Cys10Ter)
n.177T>A
2g.28776861T>CCA425499028PPP1CBc.63T>C (p.Cys21=)
c.-22T>C (n.-22T>C)
c.30T>C (p.Cys10=)
n.177T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.28776861T>GCA346580644PPP1CBc.63T>G (p.Cys21Trp)
c.-22T>G (n.-22T>G)
c.30T>G (p.Cys10Trp)
n.177T>G
2g.28776861T=CA1240875813PPP1CBc.63T= (p.Cys21=)
c.-22T= (n.-22T=)
c.30T= (p.Cys10=)
n.177T=
2g.28776862C>ACA346580645PPP1CBc.64C>A (p.Arg22Ser)
c.-21C>A (n.-21C>A)
c.31C>A (p.Arg11Ser)
n.178C>A
 gnomAD v4
2g.28776862C>GCA346580646PPP1CBc.64C>G (p.Arg22Gly)
c.-21C>G (n.-21C>G)
c.31C>G (p.Arg11Gly)
n.178C>G
2g.28776862C>TCA346580647PPP1CBc.64C>T (p.Arg22Cys)
c.-21C>T (n.-21C>T)
c.31C>T (p.Arg11Cys)
n.178C>T
2g.28776863G>ACA346580648PPP1CBc.65G>A (p.Arg22His)
c.-20G>A (n.-20G>A)
c.32G>A (p.Arg11His)
n.179G>A
 dbSNP gnomAD v2 gnomAD v4
2g.28776863G>CCA346580649PPP1CBc.65G>C (p.Arg22Pro)
c.-20G>C (n.-20G>C)
c.32G>C (p.Arg11Pro)
n.179G>C
2g.28776863G=CA1240875816PPP1CBc.65G= (p.Arg22=)
c.-20G= (n.-20G=)
c.32G= (p.Arg11=)
n.179G=
2g.28776863G>TCA346580650PPP1CBc.65G>T (p.Arg22Leu)
c.-20G>T (n.-20G>T)
c.32G>T (p.Arg11Leu)
n.179G>T
2g.28776864T>ACA425499045PPP1CBc.66T>A (p.Arg22=)
c.-19T>A (n.-19T>A)
c.33T>A (p.Arg11=)
n.180T>A
2g.28776864T>CCA425499047PPP1CBc.66T>C (p.Arg22=)
c.-19T>C (n.-19T>C)
c.33T>C (p.Arg11=)
n.180T>C
 gnomAD v4
2g.28776864T>GCA425499046PPP1CBc.66T>G (p.Arg22=)
c.-19T>G (n.-19T>G)
c.33T>G (p.Arg11=)
n.180T>G
2g.28776865C>ACA346580651PPP1CBc.67C>A (p.Pro23Thr)
c.-18C>A (n.-18C>A)
c.34C>A (p.Pro12Thr)
n.181C>A
2g.28776865C>GCA346580653PPP1CBc.67C>G (p.Pro23Ala)
c.-18C>G (n.-18C>G)
c.34C>G (p.Pro12Ala)
n.181C>G
2g.28776865C>TCA346580652PPP1CBc.67C>T (p.Pro23Ser)
c.-18C>T (n.-18C>T)
c.34C>T (p.Pro12Ser)
n.181C>T
2g.28776866C>ACA346580654PPP1CBc.68C>A (p.Pro23Gln)
c.-17C>A (n.-17C>A)
c.35C>A (p.Pro12Gln)
n.182C>A
2g.28776866C>GCA346580656PPP1CBc.68C>G (p.Pro23Arg)
c.-17C>G (n.-17C>G)
c.35C>G (p.Pro12Arg)
n.182C>G
2g.28776866C>TCA346580655PPP1CBc.68C>T (p.Pro23Leu)
c.-17C>T (n.-17C>T)
c.35C>T (p.Pro12Leu)
n.182C>T
2g.28776867A>CCA425499075PPP1CBc.69A>C (p.Pro23=)
c.-16A>C (n.-16A>C)
c.36A>C (p.Pro12=)
n.183A>C
2g.28776867A>GCA425499071PPP1CBc.69A>G (p.Pro23=)
c.-16A>G (n.-16A>G)
c.36A>G (p.Pro12=)
n.183A>G
 gnomAD v4
2g.28776867A>TCA425499068PPP1CBc.69A>T (p.Pro23=)
c.-16A>T (n.-16A>T)
c.36A>T (p.Pro12=)
n.183A>T
2g.28776868G>ACA346580657PPP1CBc.70G>A (p.Gly24Arg)
c.-15G>A (n.-15G>A)
c.37G>A (p.Gly13Arg)
n.184G>A
 gnomAD v4
2g.28776868G>CCA346580658PPP1CBc.70G>C (p.Gly24Arg)
c.-15G>C (n.-15G>C)
c.37G>C (p.Gly13Arg)
n.184G>C
2g.28776868G>TCA346580659PPP1CBc.70G>T (p.Gly24Ter)
c.-15G>T (n.-15G>T)
c.37G>T (p.Gly13Ter)
n.184G>T
2g.28776869G>ACA346580660PPP1CBc.71G>A (p.Gly24Glu)
c.-14G>A (n.-14G>A)
c.38G>A (p.Gly13Glu)
n.185G>A
 COSMIC
2g.28776869G>CCA346580661PPP1CBc.71G>C (p.Gly24Ala)
c.-14G>C (n.-14G>C)
c.38G>C (p.Gly13Ala)
n.185G>C
2g.28776869G>TCA346580662PPP1CBc.71G>T (p.Gly24Val)
c.-14G>T (n.-14G>T)
c.38G>T (p.Gly13Val)
n.185G>T
 ClinVar
2g.28776870A>CCA425499093PPP1CBc.72A>C (p.Gly24=)
c.-13A>C (n.-13A>C)
c.39A>C (p.Gly13=)
n.186A>C
 gnomAD v4
2g.28776870A>GCA425499099PPP1CBc.72A>G (p.Gly24=)
c.-13A>G (n.-13A>G)
c.39A>G (p.Gly13=)
n.186A>G
2g.28776870A>TCA425499095PPP1CBc.72A>T (p.Gly24=)
c.-13A>T (n.-13A>T)
c.39A>T (p.Gly13=)
n.186A>T
2g.28776871A>CCA346580663PPP1CBc.73A>C (p.Lys25Gln)
c.-12A>C (n.-12A>C)
c.40A>C (p.Lys14Gln)
n.187A>C
2g.28776871A>GCA346580664PPP1CBc.73A>G (p.Lys25Glu)
c.-12A>G (n.-12A>G)
c.40A>G (p.Lys14Glu)
n.187A>G
2g.28776871A>TCA346580665PPP1CBc.73A>T (p.Lys25Ter)
c.-12A>T (n.-12A>T)
c.40A>T (p.Lys14Ter)
n.187A>T
2g.28776872A>CCA346580666PPP1CBc.74A>C (p.Lys25Thr)
c.-11A>C (n.-11A>C)
c.41A>C (p.Lys14Thr)
n.188A>C
2g.28776872A>GCA346580668PPP1CBc.74A>G (p.Lys25Arg)
c.-11A>G (n.-11A>G)
c.41A>G (p.Lys14Arg)
n.188A>G
 ClinVar
2g.28776872A>TCA346580670PPP1CBc.74A>T (p.Lys25Met)
c.-11A>T (n.-11A>T)
c.41A>T (p.Lys14Met)
n.188A>T
2g.28776873G>ACA425499117PPP1CBc.75G>A (p.Lys25=)
c.-10G>A (n.-10G>A)
c.42G>A (p.Lys14=)
n.189G>A
2g.28776873G>CCA346580676PPP1CBc.75G>C (p.Lys25Asn)
c.-10G>C (n.-10G>C)
c.42G>C (p.Lys14Asn)
n.189G>C
2g.28776873G>TCA346580674PPP1CBc.75G>T (p.Lys25Asn)
c.-10G>T (n.-10G>T)
c.42G>T (p.Lys14Asn)
n.189G>T
 COSMIC
2g.28776874A>CCA346580678PPP1CBc.76A>C (p.Ile26Leu)
c.-9A>C (n.-9A>C)
c.43A>C (p.Ile15Leu)
n.190A>C
2g.28776874A>GCA346580684PPP1CBc.76A>G (p.Ile26Val)
c.-9A>G (n.-9A>G)
c.43A>G (p.Ile15Val)
n.190A>G
 gnomAD v4
2g.28776874A>TCA346580686PPP1CBc.76A>T (p.Ile26Phe)
c.-9A>T (n.-9A>T)
c.43A>T (p.Ile15Phe)
n.190A>T
2g.28776875T>ACA346580688PPP1CBc.77T>A (p.Ile26Asn)
c.-8T>A (n.-8T>A)
c.44T>A (p.Ile15Asn)
n.191T>A
2g.28776875T>CCA346580690PPP1CBc.77T>C (p.Ile26Thr)
c.-8T>C (n.-8T>C)
c.44T>C (p.Ile15Thr)
n.191T>C
 dbSNP
2g.28776875T>GCA346580692PPP1CBc.77T>G (p.Ile26Ser)
c.-8T>G (n.-8T>G)
c.44T>G (p.Ile15Ser)
n.191T>G
2g.28776875T=CA1240875818PPP1CBc.77T= (p.Ile26=)
c.-8T= (n.-8T=)
c.44T= (p.Ile15=)
n.191T=
2g.28776876T>ACA425499126PPP1CBc.78T>A (p.Ile26=)
c.-7T>A (n.-7T>A)
c.45T>A (p.Ile15=)
n.192T>A
2g.28776876T>CCA425499127PPP1CBc.78T>C (p.Ile26=)
c.-7T>C (n.-7T>C)
c.45T>C (p.Ile15=)
n.192T>C
2g.28776876T>GCA346580694PPP1CBc.78T>G (p.Ile26Met)
c.-7T>G (n.-7T>G)
c.45T>G (p.Ile15Met)
n.192T>G
 dbSNP gnomAD v3 gnomAD v4
2g.28776876T=CA1240875822PPP1CBc.78T= (p.Ile26=)
c.-7T= (n.-7T=)
c.45T= (p.Ile15=)
n.192T=
2g.28776877G>ACA346580695PPP1CBc.79G>A (p.Val27Met)
c.-6G>A (n.-6G>A)
c.46G>A (p.Val16Met)
n.193G>A
 ClinVar dbSNP
2g.28776877G>CCA346580696PPP1CBc.79G>C (p.Val27Leu)
c.-6G>C (n.-6G>C)
c.46G>C (p.Val16Leu)
n.193G>C
2g.28776877G=CA1240875826PPP1CBc.79G= (p.Val27=)
c.-6G= (n.-6G=)
c.46G= (p.Val16=)
n.193G=
2g.28776877G>TCA346580697PPP1CBc.79G>T (p.Val27Leu)
c.-6G>T (n.-6G>T)
c.46G>T (p.Val16Leu)
n.193G>T
2g.28776878T>ACA346580698PPP1CBc.80T>A (p.Val27Glu)
c.-5T>A (n.-5T>A)
c.47T>A (p.Val16Glu)
n.194T>A
2g.28776878T>CCA346580700PPP1CBc.80T>C (p.Val27Ala)
c.-5T>C (n.-5T>C)
c.47T>C (p.Val16Ala)
n.194T>C
 gnomAD v4
2g.28776878T>GCA346580702PPP1CBc.80T>G (p.Val27Gly)
c.-5T>G (n.-5T>G)
c.47T>G (p.Val16Gly)
n.194T>G
2g.28776879G>ACA425499139PPP1CBc.81G>A (p.Val27=)
c.-4G>A (n.-4G>A)
c.48G>A (p.Val16=)
n.195G>A
 gnomAD v4
2g.28776879G>CCA425499140PPP1CBc.81G>C (p.Val27=)
c.-4G>C (n.-4G>C)
c.48G>C (p.Val16=)
n.195G>C
2g.28776879G>TCA425499141PPP1CBc.81G>T (p.Val27=)
c.-4G>T (n.-4G>T)
c.48G>T (p.Val16=)
n.195G>T
2g.28776880C>ACA346580708PPP1CBc.82C>A (p.Gln28Lys)
c.-3C>A (n.-3C>A)
c.49C>A (p.Gln17Lys)
n.196C>A
2g.28776880C>GCA346580705PPP1CBc.82C>G (p.Gln28Glu)
c.-3C>G (n.-3C>G)
c.49C>G (p.Gln17Glu)
n.196C>G
2g.28776880C>TCA346580704PPP1CBc.82C>T (p.Gln28Ter)
c.-3C>T (n.-3C>T)
c.49C>T (p.Gln17Ter)
n.196C>T
2g.28776881A>CCA346580725PPP1CBc.83A>C (p.Gln28Pro)
c.-2A>C (n.-2A>C)
c.50A>C (p.Gln17Pro)
n.197A>C
2g.28776881A>GCA346580709PPP1CBc.83A>G (p.Gln28Arg)
c.-2A>G (n.-2A>G)
c.50A>G (p.Gln17Arg)
n.197A>G
2g.28776881A>TCA346580722PPP1CBc.83A>T (p.Gln28Leu)
c.-2A>T (n.-2A>T)
c.50A>T (p.Gln17Leu)
n.197A>T
2g.28776882G>ACA425499150PPP1CBc.84G>A (p.Gln28=)
c.-1G>A (n.-1G>A)
c.51G>A (p.Gln17=)
n.198G>A
2g.28776882G>CCA346580732PPP1CBc.84G>C (p.Gln28His)
c.-1G>C (n.-1G>C)
c.51G>C (p.Gln17His)
n.198G>C
 gnomAD v4
2g.28776882G>TCA346580737PPP1CBc.84G>T (p.Gln28His)
c.-1G>T (n.-1G>T)
c.51G>T (p.Gln17His)
n.198G>T
2g.28776883A=CA1240875829PPP1CBc.85A= (p.Met29=)
c.1A= (p.Met1=)
c.52A= (p.Met18=)
n.199A=
2g.28776883A>CCA346580739PPP1CBc.85A>C (p.Met29Leu)
c.1A>C (p.Met1Leu)
c.52A>C (p.Met18Leu)
n.199A>C
2g.28776883A>GCA346580740PPP1CBc.85A>G (p.Met29Val)
c.1A>G (p.Met1Val)
c.52A>G (p.Met18Val)
n.199A>G
 dbSNP
2g.28776883A>TCA346580742PPP1CBc.85A>T (p.Met29Leu)
c.1A>T (p.Met1Leu)
c.52A>T (p.Met18Leu)
n.199A>T
2g.28776884T>ACA346580744PPP1CBc.86T>A (p.Met29Lys)
c.2T>A (p.Met1Lys)
c.53T>A (p.Met18Lys)
n.200T>A
2g.28776884T>CCA346580747PPP1CBc.86T>C (p.Met29Thr)
c.2T>C (p.Met1Thr)
c.53T>C (p.Met18Thr)
n.200T>C
 gnomAD v4
2g.28776884T>GCA346580748PPP1CBc.86T>G (p.Met29Arg)
c.2T>G (p.Met1Arg)
c.53T>G (p.Met18Arg)
n.200T>G
2g.28776885G>ACA346580752PPP1CBc.87G>A (p.Met29Ile)
c.3G>A (p.Met1Ile)
c.54G>A (p.Met18Ile)
n.201G>A
2g.28776885G>CCA346580753PPP1CBc.87G>C (p.Met29Ile)
c.3G>C (p.Met1Ile)
c.54G>C (p.Met18Ile)
n.201G>C
2g.28776885G>TCA346580754PPP1CBc.87G>T (p.Met29Ile)
c.3G>T (p.Met1Ile)
c.54G>T (p.Met18Ile)
n.201G>T
 gnomAD v4 COSMIC
2g.28776886A=CA1240875831PPP1CBc.88A= (p.Thr30=)
c.4A= (p.Thr2=)
c.55A= (p.Thr19=)
n.202A=
2g.28776886A>CCA346580756PPP1CBc.88A>C (p.Thr30Pro)
c.4A>C (p.Thr2Pro)
c.55A>C (p.Thr19Pro)
n.202A>C
 dbSNP
2g.28776886A>GCA346580757PPP1CBc.88A>G (p.Thr30Ala)
c.4A>G (p.Thr2Ala)
c.55A>G (p.Thr19Ala)
n.202A>G
2g.28776886A>TCA346580755PPP1CBc.88A>T (p.Thr30Ser)
c.4A>T (p.Thr2Ser)
c.55A>T (p.Thr19Ser)
n.202A>T
2g.28776887C>ACA346580758PPP1CBc.89C>A (p.Thr30Asn)
c.5C>A (p.Thr2Asn)
c.56C>A (p.Thr19Asn)
n.203C>A
2g.28776887C=CA1240875833PPP1CBc.89C= (p.Thr30=)
c.5C= (p.Thr2=)
c.56C= (p.Thr19=)
n.203C=
2g.28776887C>GCA346580759PPP1CBc.89C>G (p.Thr30Ser)
c.5C>G (p.Thr2Ser)
c.56C>G (p.Thr19Ser)
n.203C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.28776887C>TCA346580760PPP1CBc.89C>T (p.Thr30Ile)
c.5C>T (p.Thr2Ile)
c.56C>T (p.Thr19Ile)
n.203C>T
 gnomAD v4
2g.28776888T>ACA425499175PPP1CBc.90T>A (p.Thr30=)
c.6T>A (p.Thr2=)
c.57T>A (p.Thr19=)
n.204T>A
2g.28776888T>CCA425499176PPP1CBc.90T>C (p.Thr30=)
c.6T>C (p.Thr2=)
c.57T>C (p.Thr19=)
n.204T>C
 dbSNP gnomAD v4
2g.28776888T>GCA425499178PPP1CBc.90T>G (p.Thr30=)
c.6T>G (p.Thr2=)
c.57T>G (p.Thr19=)
n.204T>G
 dbSNP gnomAD v4
2g.28776888T=CA1240875837PPP1CBc.90T= (p.Thr30=)
c.6T= (p.Thr2=)
c.57T= (p.Thr19=)
n.204T=
2g.28776889G>ACA346580761PPP1CBc.91G>A (p.Glu31Lys)
c.7G>A (p.Glu3Lys)
c.58G>A (p.Glu20Lys)
n.205G>A
 COSMIC
2g.28776889G>CCA346580763PPP1CBc.91G>C (p.Glu31Gln)
c.7G>C (p.Glu3Gln)
c.58G>C (p.Glu20Gln)
n.205G>C
2g.28776889G>TCA346580765PPP1CBc.91G>T (p.Glu31Ter)
c.7G>T (p.Glu3Ter)
c.58G>T (p.Glu20Ter)
n.205G>T
2g.28776890A>CCA346580766PPP1CBc.92A>C (p.Glu31Ala)
c.8A>C (p.Glu3Ala)
c.59A>C (p.Glu20Ala)
n.206A>C
2g.28776890A>GCA346580774PPP1CBc.92A>G (p.Glu31Gly)
c.8A>G (p.Glu3Gly)
c.59A>G (p.Glu20Gly)
n.206A>G
2g.28776890A>TCA346580768PPP1CBc.92A>T (p.Glu31Val)
c.8A>T (p.Glu3Val)
c.59A>T (p.Glu20Val)
n.206A>T
2g.28776891A>CCA346580777PPP1CBc.93A>C (p.Glu31Asp)
c.9A>C (p.Glu3Asp)
c.60A>C (p.Glu20Asp)
n.207A>C
2g.28776891A>GCA425499187PPP1CBc.93A>G (p.Glu31=)
c.9A>G (p.Glu3=)
c.60A>G (p.Glu20=)
n.207A>G
 ClinVar
2g.28776891A>TCA346580779PPP1CBc.93A>T (p.Glu31Asp)
c.9A>T (p.Glu3Asp)
c.60A>T (p.Glu20Asp)
n.207A>T
2g.28776892G>ACA1589164PPP1CBc.94G>A (p.Ala32Thr)
c.10G>A (p.Ala4Thr)
c.61G>A (p.Ala21Thr)
n.208G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.28776892G>CCA346580782PPP1CBc.94G>C (p.Ala32Pro)
c.10G>C (p.Ala4Pro)
c.61G>C (p.Ala21Pro)
n.208G>C
2g.28776892G=CA1240875843PPP1CBc.94G= (p.Ala32=)
c.10G= (p.Ala4=)
c.61G= (p.Ala21=)
n.208G=
2g.28776892G>TCA346580783PPP1CBc.94G>T (p.Ala32Ser)
c.10G>T (p.Ala4Ser)
c.61G>T (p.Ala21Ser)
n.208G>T
2g.28776893C>ACA346580789PPP1CBc.95C>A (p.Ala32Glu)
c.11C>A (p.Ala4Glu)
c.62C>A (p.Ala21Glu)
n.209C>A
2g.28776893C>GCA346580792PPP1CBc.95C>G (p.Ala32Gly)
c.11C>G (p.Ala4Gly)
c.62C>G (p.Ala21Gly)
n.209C>G
2g.28776893C>TCA346580786PPP1CBc.95C>T (p.Ala32Val)
c.11C>T (p.Ala4Val)
c.62C>T (p.Ala21Val)
n.209C>T
 ClinVar dbSNP gnomAD v4
2g.28776894A>CCA425499200PPP1CBc.96A>C (p.Ala32=)
c.12A>C (p.Ala4=)
c.63A>C (p.Ala21=)
n.210A>C
2g.28776894A>GCA425499203PPP1CBc.96A>G (p.Ala32=)
c.12A>G (p.Ala4=)
c.63A>G (p.Ala21=)
n.210A>G
2g.28776894A>TCA425499205PPP1CBc.96A>T (p.Ala32=)
c.12A>T (p.Ala4=)
c.63A>T (p.Ala21=)
n.210A>T
2g.28776895G>ACA346580795PPP1CBc.97G>A (p.Glu33Lys)
c.13G>A (p.Glu5Lys)
c.64G>A (p.Glu22Lys)
n.211G>A
2g.28776895G>CCA346580808PPP1CBc.97G>C (p.Glu33Gln)
c.13G>C (p.Glu5Gln)
c.64G>C (p.Glu22Gln)
n.211G>C
2g.28776895G>TCA346580816PPP1CBc.97G>T (p.Glu33Ter)
c.13G>T (p.Glu5Ter)
c.64G>T (p.Glu22Ter)
n.211G>T
2g.28776896A>CCA346580819PPP1CBc.98A>C (p.Glu33Ala)
c.14A>C (p.Glu5Ala)
c.65A>C (p.Glu22Ala)
n.212A>C
2g.28776896A>GCA346580820PPP1CBc.98A>G (p.Glu33Gly)
c.14A>G (p.Glu5Gly)
c.65A>G (p.Glu22Gly)
n.212A>G
2g.28776896A>TCA346580821PPP1CBc.98A>T (p.Glu33Val)
c.14A>T (p.Glu5Val)
c.65A>T (p.Glu22Val)
n.212A>T
2g.28776897A>CCA346580822PPP1CBc.99A>C (p.Glu33Asp)
c.15A>C (p.Glu5Asp)
c.66A>C (p.Glu22Asp)
n.213A>C
2g.28776897A>GCA425499216PPP1CBc.99A>G (p.Glu33=)
c.15A>G (p.Glu5=)
c.66A>G (p.Glu22=)
n.213A>G
 gnomAD v4
2g.28776897A>TCA346580823PPP1CBc.99A>T (p.Glu33Asp)
c.15A>T (p.Glu5Asp)
c.66A>T (p.Glu22Asp)
n.213A>T
2g.28776898G>ACA346580824PPP1CBc.100G>A (p.Val34Ile)
c.16G>A (p.Val6Ile)
c.67G>A (p.Val23Ile)
n.214G>A
2g.28776898G>CCA346580826PPP1CBc.100G>C (p.Val34Leu)
c.16G>C (p.Val6Leu)
c.67G>C (p.Val23Leu)
n.214G>C
2g.28776898G>TCA346580827PPP1CBc.100G>T (p.Val34Phe)
c.16G>T (p.Val6Phe)
c.67G>T (p.Val23Phe)
n.214G>T
2g.28776899T>ACA346580830PPP1CBc.101T>A (p.Val34Asp)
c.17T>A (p.Val6Asp)
c.68T>A (p.Val23Asp)
n.215T>A
2g.28776899T>CCA346580833PPP1CBc.101T>C (p.Val34Ala)
c.17T>C (p.Val6Ala)
c.68T>C (p.Val23Ala)
n.215T>C
2g.28776899T>GCA346580835PPP1CBc.101T>G (p.Val34Gly)
c.17T>G (p.Val6Gly)
c.68T>G (p.Val23Gly)
n.215T>G
2g.28776900T>ACA425499227PPP1CBc.102T>A (p.Val34=)
c.18T>A (p.Val6=)
c.69T>A (p.Val23=)
n.216T>A
 ClinVar dbSNP
2g.28776900T>CCA425499230PPP1CBc.102T>C (p.Val34=)
c.18T>C (p.Val6=)
c.69T>C (p.Val23=)
n.216T>C
2g.28776900T>GCA425499234PPP1CBc.102T>G (p.Val34=)
c.18T>G (p.Val6=)
c.69T>G (p.Val23=)
n.216T>G
2g.28776901C>ACA425499238PPP1CBc.103C>A (p.Arg35=)
c.19C>A (p.Arg7=)
c.70C>A (p.Arg24=)
n.217C>A
2g.28776901C>GCA346580845PPP1CBc.103C>G (p.Arg35Gly)
c.19C>G (p.Arg7Gly)
c.70C>G (p.Arg24Gly)
n.217C>G
2g.28776901C>TCA346580837PPP1CBc.103C>T (p.Arg35Ter)
c.19C>T (p.Arg7Ter)
c.70C>T (p.Arg24Ter)
n.217C>T
2g.28776902G>ACA346580847PPP1CBc.104G>A (p.Arg35Gln)
c.20G>A (p.Arg7Gln)
c.71G>A (p.Arg24Gln)
n.218G>A
 ClinVar dbSNP gnomAD v4
2g.28776902G>CCA346580848PPP1CBc.104G>C (p.Arg35Pro)
c.20G>C (p.Arg7Pro)
c.71G>C (p.Arg24Pro)
n.218G>C
2g.28776902G=CA1240875845PPP1CBc.104G= (p.Arg35=)
c.20G= (p.Arg7=)
c.71G= (p.Arg24=)
n.218G=
2g.28776902G>TCA346580849PPP1CBc.104G>T (p.Arg35Leu)
c.20G>T (p.Arg7Leu)
c.71G>T (p.Arg24Leu)
n.218G>T
2g.28776903A>CCA425499241PPP1CBc.105A>C (p.Arg35=)
c.21A>C (p.Arg7=)
c.72A>C (p.Arg24=)
n.219A>C
2g.28776903A>GCA425499242PPP1CBc.105A>G (p.Arg35=)
c.21A>G (p.Arg7=)
c.72A>G (p.Arg24=)
n.219A>G
2g.28776903A>TCA425499243PPP1CBc.105A>T (p.Arg35=)
c.21A>T (p.Arg7=)
c.72A>T (p.Arg24=)
n.219A>T
2g.28776904G>ACA346580850PPP1CBc.106G>A (p.Gly36Ser)
c.22G>A (p.Gly8Ser)
c.73G>A (p.Gly25Ser)
n.220G>A
2g.28776904G>CCA346580852PPP1CBc.106G>C (p.Gly36Arg)
c.22G>C (p.Gly8Arg)
c.73G>C (p.Gly25Arg)
n.220G>C
2g.28776904G>TCA346580858PPP1CBc.106G>T (p.Gly36Cys)
c.22G>T (p.Gly8Cys)
c.73G>T (p.Gly25Cys)
n.220G>T
2g.28776905G>ACA346580867PPP1CBc.107G>A (p.Gly36Asp)
c.23G>A (p.Gly8Asp)
c.74G>A (p.Gly25Asp)
n.221G>A
2g.28776905G>CCA346580863PPP1CBc.107G>C (p.Gly36Ala)
c.23G>C (p.Gly8Ala)
c.74G>C (p.Gly25Ala)
n.221G>C
2g.28776905G=CA1240875847PPP1CBc.107G= (p.Gly36=)
c.23G= (p.Gly8=)
c.74G= (p.Gly25=)
n.221G=
2g.28776905G>TCA346580865PPP1CBc.107G>T (p.Gly36Val)
c.23G>T (p.Gly8Val)
c.74G>T (p.Gly25Val)
n.221G>T
 dbSNP
2g.28776906C>ACA425499253PPP1CBc.108C>A (p.Gly36=)
c.24C>A (p.Gly8=)
c.75C>A (p.Gly25=)
n.222C>A
2g.28776906C=CA1240875851PPP1CBc.108C= (p.Gly36=)
c.24C= (p.Gly8=)
c.75C= (p.Gly25=)
n.222C=
2g.28776906C>GCA425499255PPP1CBc.108C>G (p.Gly36=)
c.24C>G (p.Gly8=)
c.75C>G (p.Gly25=)
n.222C>G
 dbSNP
2g.28776906C>TCA425499250PPP1CBc.108C>T (p.Gly36=)
c.24C>T (p.Gly8=)
c.75C>T (p.Gly25=)
n.222C>T
2g.28776907T>ACA346580871PPP1CBc.109T>A (p.Leu37Ile)
c.25T>A (p.Leu9Ile)
c.76T>A (p.Leu26Ile)
n.223T>A
2g.28776907T>CCA425499260PPP1CBc.109T>C (p.Leu37=)
c.25T>C (p.Leu9=)
c.76T>C (p.Leu26=)
n.223T>C
2g.28776907T>GCA346580873PPP1CBc.109T>G (p.Leu37Val)
c.25T>G (p.Leu9Val)
c.76T>G (p.Leu26Val)
n.223T>G
2g.28776908T>ACA346580876PPP1CBc.110T>A (p.Leu37Ter)
c.26T>A (p.Leu9Ter)
c.77T>A (p.Leu26Ter)
n.224T>A
2g.28776908T>CCA346580878PPP1CBc.110T>C (p.Leu37Ser)
c.26T>C (p.Leu9Ser)
c.77T>C (p.Leu26Ser)
n.224T>C
2g.28776908T>GCA346580880PPP1CBc.110T>G (p.Leu37Ter)
c.26T>G (p.Leu9Ter)
c.77T>G (p.Leu26Ter)
n.224T>G
2g.28776911_28776914dupCA2580066272PPP1CBc.113_116dup (p.Ile39MetfsTer?)
c.29_32dup (p.Ile11MetfsTer31)
c.29_32dup (p.Ile11MetfsTer?)
c.113_116dup (p.Ile39MetfsTer31)
c.80_83dup (p.Ile28MetfsTer?)
n.227_230dup
 ClinVar
2g.28776909A=CA1240875853PPP1CBc.111A= (p.Leu37=)
c.27A= (p.Leu9=)
c.78A= (p.Leu26=)
n.225A=
2g.28776909A>CCA346580883PPP1CBc.111A>C (p.Leu37Phe)
c.27A>C (p.Leu9Phe)
c.78A>C (p.Leu26Phe)
n.225A>C
2g.28776909A>GCA1589165PPP1CBc.111A>G (p.Leu37=)
c.27A>G (p.Leu9=)
c.78A>G (p.Leu26=)
n.225A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.28776909A>TCA346580887PPP1CBc.111A>T (p.Leu37Phe)
c.27A>T (p.Leu9Phe)
c.78A>T (p.Leu26Phe)
n.225A>T
2g.28776910T>ACA346580892PPP1CBc.112T>A (p.Cys38Ser)
c.28T>A (p.Cys10Ser)
c.79T>A (p.Cys27Ser)
n.226T>A
2g.28776910T>CCA346580894PPP1CBc.112T>C (p.Cys38Arg)
c.28T>C (p.Cys10Arg)
c.79T>C (p.Cys27Arg)
n.226T>C
2g.28776910T>GCA346580896PPP1CBc.112T>G (p.Cys38Gly)
c.28T>G (p.Cys10Gly)
c.79T>G (p.Cys27Gly)
n.226T>G
2g.28776911G>ACA346580898PPP1CBc.113G>A (p.Cys38Tyr)
c.29G>A (p.Cys10Tyr)
c.80G>A (p.Cys27Tyr)
n.227G>A
2g.28776911G>CCA346580899PPP1CBc.113G>C (p.Cys38Ser)
c.29G>C (p.Cys10Ser)
c.80G>C (p.Cys27Ser)
n.227G>C
2g.28776911G>TCA346580901PPP1CBc.113G>T (p.Cys38Phe)
c.29G>T (p.Cys10Phe)
c.80G>T (p.Cys27Phe)
n.227G>T
2g.28776912T>ACA346580904PPP1CBc.114T>A (p.Cys38Ter)
c.30T>A (p.Cys10Ter)
c.81T>A (p.Cys27Ter)
n.228T>A
2g.28776912T>CCA225576PPP1CBc.114T>C (p.Cys38=)
c.30T>C (p.Cys10=)
c.81T>C (p.Cys27=)
n.228T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.28776912T>GCA346580906PPP1CBc.114T>G (p.Cys38Trp)
c.30T>G (p.Cys10Trp)
c.81T>G (p.Cys27Trp)
n.228T>G
2g.28776912T=CA1240875856PPP1CBc.114T= (p.Cys38=)
c.30T= (p.Cys10=)
c.81T= (p.Cys27=)
n.228T=
2g.28776913A>CCA346580910PPP1CBc.115A>C (p.Ile39Leu)
c.31A>C (p.Ile11Leu)
c.82A>C (p.Ile28Leu)
n.229A>C
2g.28776913A>GCA346580919PPP1CBc.115A>G (p.Ile39Val)
c.31A>G (p.Ile11Val)
c.82A>G (p.Ile28Val)
n.229A>G
 gnomAD v4 COSMIC
2g.28776913A>TCA346580921PPP1CBc.115A>T (p.Ile39Phe)
c.31A>T (p.Ile11Phe)
c.82A>T (p.Ile28Phe)
n.229A>T
2g.28776914T>ACA346580932PPP1CBc.116T>A (p.Ile39Asn)
c.32T>A (p.Ile11Asn)
c.83T>A (p.Ile28Asn)
n.230T>A
 gnomAD v3 gnomAD v4
2g.28776914T>CCA346580930PPP1CBc.116T>C (p.Ile39Thr)
c.32T>C (p.Ile11Thr)
c.83T>C (p.Ile28Thr)
n.230T>C
2g.28776914T>GCA346580923PPP1CBc.116T>G (p.Ile39Ser)
c.32T>G (p.Ile11Ser)
c.83T>G (p.Ile28Ser)
n.230T>G
2g.28776915C>ACA425499292PPP1CBc.117C>A (p.Ile39=)
c.33C>A (p.Ile11=)
c.84C>A (p.Ile28=)
n.231C>A
2g.28776915C>GCA346580934PPP1CBc.117C>G (p.Ile39Met)
c.33C>G (p.Ile11Met)
c.84C>G (p.Ile28Met)
n.231C>G
2g.28776915C>TCA425499296PPP1CBc.117C>T (p.Ile39=)
c.33C>T (p.Ile11=)
c.84C>T (p.Ile28=)
n.231C>T
2g.28776916A>CCA346580938PPP1CBc.118A>C (p.Lys40Gln)
c.34A>C (p.Lys12Gln)
c.85A>C (p.Lys29Gln)
n.232A>C
 gnomAD v4
2g.28776916A>GCA346580940PPP1CBc.118A>G (p.Lys40Glu)
c.34A>G (p.Lys12Glu)
c.85A>G (p.Lys29Glu)
n.232A>G
2g.28776916A>TCA346580943PPP1CBc.118A>T (p.Lys40Ter)
c.34A>T (p.Lys12Ter)
c.85A>T (p.Lys29Ter)
n.232A>T
2g.28776917A>CCA346580946PPP1CBc.119A>C (p.Lys40Thr)
c.35A>C (p.Lys12Thr)
c.86A>C (p.Lys29Thr)
n.233A>C
2g.28776917A>GCA346580948PPP1CBc.119A>G (p.Lys40Arg)
c.35A>G (p.Lys12Arg)
c.86A>G (p.Lys29Arg)
n.233A>G
2g.28776917A>TCA346580949PPP1CBc.119A>T (p.Lys40Met)
c.35A>T (p.Lys12Met)
c.86A>T (p.Lys29Met)
n.233A>T
2g.28776918G>ACA425499308PPP1CBc.120G>A (p.Lys40=)
c.36G>A (p.Lys12=)
c.87G>A (p.Lys29=)
n.234G>A
2g.28776918G>CCA346580950PPP1CBc.120G>C (p.Lys40Asn)
c.36G>C (p.Lys12Asn)
c.87G>C (p.Lys29Asn)
n.234G>C
2g.28776918G>TCA346580951PPP1CBc.120G>T (p.Lys40Asn)
c.36G>T (p.Lys12Asn)
c.87G>T (p.Lys29Asn)
n.234G>T
2g.28776919T>ACA346580954PPP1CBc.121T>A (p.Ser41Thr)
c.37T>A (p.Ser13Thr)
c.88T>A (p.Ser30Thr)
n.235T>A
2g.28776919T>CCA346580956PPP1CBc.121T>C (p.Ser41Pro)
c.37T>C (p.Ser13Pro)
c.88T>C (p.Ser30Pro)
n.235T>C
2g.28776919T>GCA346580960PPP1CBc.121T>G (p.Ser41Ala)
c.37T>G (p.Ser13Ala)
c.88T>G (p.Ser30Ala)
n.235T>G
2g.28776920C>ACA346580962PPP1CBc.122C>A (p.Ser41Tyr)
c.38C>A (p.Ser13Tyr)
c.89C>A (p.Ser30Tyr)
n.236C>A
2g.28776920C=CA1240875862PPP1CBc.122C= (p.Ser41=)
c.38C= (p.Ser13=)
c.89C= (p.Ser30=)
n.236C=
2g.28776920C>GCA346580963PPP1CBc.122C>G (p.Ser41Cys)
c.38C>G (p.Ser13Cys)
c.89C>G (p.Ser30Cys)
n.236C>G
2g.28776920C>TCA1589166PPP1CBc.122C>T (p.Ser41Phe)
c.38C>T (p.Ser13Phe)
c.89C>T (p.Ser30Phe)
n.236C>T
 dbSNP ExAC gnomAD v2
2g.28776921T>ACA425499321PPP1CBc.123T>A (p.Ser41=)
c.39T>A (p.Ser13=)
c.90T>A (p.Ser30=)
n.237T>A
 ClinVar dbSNP
2g.28776921T>CCA425499324PPP1CBc.123T>C (p.Ser41=)
c.39T>C (p.Ser13=)
c.90T>C (p.Ser30=)
n.237T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.28776921T>GCA425499325PPP1CBc.123T>G (p.Ser41=)
c.39T>G (p.Ser13=)
c.90T>G (p.Ser30=)
n.237T>G
2g.28776921T=CA1240875865PPP1CBc.123T= (p.Ser41=)
c.39T= (p.Ser13=)
c.90T= (p.Ser30=)
n.237T=
2g.28776922C>ACA425499332PPP1CBc.124C>A (p.Arg42=)
c.40C>A (p.Arg14=)
c.91C>A (p.Arg31=)
n.238C>A
2g.28776922C>GCA346580965PPP1CBc.124C>G (p.Arg42Gly)
c.40C>G (p.Arg14Gly)
c.91C>G (p.Arg31Gly)
n.238C>G
2g.28776922C>TCA346580968PPP1CBc.124C>T (p.Arg42Trp)
c.40C>T (p.Arg14Trp)
c.91C>T (p.Arg31Trp)
n.238C>T
2g.28776923G>ACA346580970PPP1CBc.125G>A (p.Arg42Gln)
c.41G>A (p.Arg14Gln)
c.92G>A (p.Arg31Gln)
n.239G>A
2g.28776923G>CCA346580973PPP1CBc.125G>C (p.Arg42Pro)
c.41G>C (p.Arg14Pro)
c.92G>C (p.Arg31Pro)
n.239G>C
2g.28776923G>TCA346580972PPP1CBc.125G>T (p.Arg42Leu)
c.41G>T (p.Arg14Leu)
c.92G>T (p.Arg31Leu)
n.239G>T
2g.28776924G>ACA425499333PPP1CBc.126G>A (p.Arg42=)
c.42G>A (p.Arg14=)
c.93G>A (p.Arg31=)
n.240G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.28776924G>CCA425499334PPP1CBc.126G>C (p.Arg42=)
c.42G>C (p.Arg14=)
c.93G>C (p.Arg31=)
n.240G>C
2g.28776924G=CA1240875868PPP1CBc.126G= (p.Arg42=)
c.42G= (p.Arg14=)
c.93G= (p.Arg31=)
n.240G=
2g.28776924G>TCA425499335PPP1CBc.126G>T (p.Arg42=)
c.42G>T (p.Arg14=)
c.93G>T (p.Arg31=)
n.240G>T
2g.28776925G>ACA346580977PPP1CBc.127G>A (p.Glu43Lys)
c.43G>A (p.Glu15Lys)
c.94G>A (p.Glu32Lys)
n.241G>A
2g.28776925G>CCA346580980PPP1CBc.127G>C (p.Glu43Gln)
c.43G>C (p.Glu15Gln)
c.94G>C (p.Glu32Gln)
n.241G>C
2g.28776925G>TCA346580981PPP1CBc.127G>T (p.Glu43Ter)
c.43G>T (p.Glu15Ter)
c.94G>T (p.Glu32Ter)
n.241G>T
2g.28776926A>CCA346580984PPP1CBc.128A>C (p.Glu43Ala)
c.44A>C (p.Glu15Ala)
c.95A>C (p.Glu32Ala)
n.242A>C
2g.28776926A>GCA346580986PPP1CBc.128A>G (p.Glu43Gly)
c.44A>G (p.Glu15Gly)
c.95A>G (p.Glu32Gly)
n.242A>G
2g.28776926A>TCA346580988PPP1CBc.128A>T (p.Glu43Val)
c.44A>T (p.Glu15Val)
c.95A>T (p.Glu32Val)
n.242A>T
2g.28776927G>ACA425499342PPP1CBc.129G>A (p.Glu43=)
c.45G>A (p.Glu15=)
c.96G>A (p.Glu32=)
n.243G>A
 dbSNP gnomAD v4
2g.28776927G>CCA346580991PPP1CBc.129G>C (p.Glu43Asp)
c.45G>C (p.Glu15Asp)
c.96G>C (p.Glu32Asp)
n.243G>C
2g.28776927G=CA1240875872PPP1CBc.129G= (p.Glu43=)
c.45G= (p.Glu15=)
c.96G= (p.Glu32=)
n.243G=
2g.28776927G>TCA346580994PPP1CBc.129G>T (p.Glu43Asp)
c.45G>T (p.Glu15Asp)
c.96G>T (p.Glu32Asp)
n.243G>T
2g.28776928A>CCA346580995PPP1CBc.130A>C (p.Ile44Leu)
c.46A>C (p.Ile16Leu)
c.97A>C (p.Ile33Leu)
n.244A>C
2g.28776928A>GCA346580998PPP1CBc.130A>G (p.Ile44Val)
c.46A>G (p.Ile16Val)
c.97A>G (p.Ile33Val)
n.244A>G
 COSMIC
2g.28776928A>TCA346580999PPP1CBc.130A>T (p.Ile44Phe)
c.46A>T (p.Ile16Phe)
c.97A>T (p.Ile33Phe)
n.244A>T
2g.28776929T>ACA346581004PPP1CBc.131T>A (p.Ile44Asn)
c.47T>A (p.Ile16Asn)
c.98T>A (p.Ile33Asn)
n.245T>A
2g.28776929T>CCA346581001PPP1CBc.131T>C (p.Ile44Thr)
c.47T>C (p.Ile16Thr)
c.98T>C (p.Ile33Thr)
n.245T>C
 dbSNP gnomAD v2 gnomAD v4
2g.28776929T>GCA346581000PPP1CBc.131T>G (p.Ile44Ser)
c.47T>G (p.Ile16Ser)
c.98T>G (p.Ile33Ser)
n.245T>G
2g.28776929T=CA1240875877PPP1CBc.131T= (p.Ile44=)
c.47T= (p.Ile16=)
c.98T= (p.Ile33=)
n.245T=
2g.28776930C>ACA425499353PPP1CBc.132C>A (p.Ile44=)
c.48C>A (p.Ile16=)
c.99C>A (p.Ile33=)
n.246C>A
2g.28776930C=CA1240875881PPP1CBc.132C= (p.Ile44=)
c.48C= (p.Ile16=)
c.99C= (p.Ile33=)
n.246C=
2g.28776930C>GCA346581006PPP1CBc.132C>G (p.Ile44Met)
c.48C>G (p.Ile16Met)
c.99C>G (p.Ile33Met)
n.246C>G
2g.28776930C>TCA425499357PPP1CBc.132C>T (p.Ile44=)
c.48C>T (p.Ile16=)
c.99C>T (p.Ile33=)
n.246C>T
 dbSNP
2g.28776931T>ACA346581008PPP1CBc.133T>A (p.Phe45Ile)
c.49T>A (p.Phe17Ile)
c.100T>A (p.Phe34Ile)
n.247T>A
2g.28776931T>CCA346581009PPP1CBc.133T>C (p.Phe45Leu)
c.49T>C (p.Phe17Leu)
c.100T>C (p.Phe34Leu)
n.247T>C
2g.28776931T>GCA346581011PPP1CBc.133T>G (p.Phe45Val)
c.49T>G (p.Phe17Val)
c.100T>G (p.Phe34Val)
n.247T>G
2g.28776932T>ACA346581014PPP1CBc.134T>A (p.Phe45Tyr)
c.50T>A (p.Phe17Tyr)
c.101T>A (p.Phe34Tyr)
n.248T>A
2g.28776932T>CCA346581016PPP1CBc.134T>C (p.Phe45Ser)
c.50T>C (p.Phe17Ser)
c.101T>C (p.Phe34Ser)
n.248T>C
2g.28776932T>GCA346581021PPP1CBc.134T>G (p.Phe45Cys)
c.50T>G (p.Phe17Cys)
c.101T>G (p.Phe34Cys)
n.248T>G
2g.28776933T>ACA346581023PPP1CBc.135T>A (p.Phe45Leu)
c.51T>A (p.Phe17Leu)
c.102T>A (p.Phe34Leu)
n.249T>A
2g.28776933T>CCA425499369PPP1CBc.135T>C (p.Phe45=)
c.51T>C (p.Phe17=)
c.102T>C (p.Phe34=)
n.249T>C
2g.28776933T>GCA346581027PPP1CBc.135T>G (p.Phe45Leu)
c.51T>G (p.Phe17Leu)
c.102T>G (p.Phe34Leu)
n.249T>G
2g.28776934C>ACA346581036PPP1CBc.136C>A (p.Leu46Ile)
c.52C>A (p.Leu18Ile)
c.103C>A (p.Leu35Ile)
n.250C>A
2g.28776934C>GCA346581039PPP1CBc.136C>G (p.Leu46Val)
c.52C>G (p.Leu18Val)
c.103C>G (p.Leu35Val)
n.250C>G
2g.28776934C>TCA346581041PPP1CBc.136C>T (p.Leu46Phe)
c.52C>T (p.Leu18Phe)
c.103C>T (p.Leu35Phe)
n.250C>T
 ClinVar
2g.28776935T>ACA346581048PPP1CBc.137T>A (p.Leu46His)
c.53T>A (p.Leu18His)
c.104T>A (p.Leu35His)
n.251T>A
2g.28776935T>CCA346581046PPP1CBc.137T>C (p.Leu46Pro)
c.53T>C (p.Leu18Pro)
c.104T>C (p.Leu35Pro)
n.251T>C
2g.28776935T>GCA346581043PPP1CBc.137T>G (p.Leu46Arg)
c.53T>G (p.Leu18Arg)
c.104T>G (p.Leu35Arg)
n.251T>G
2g.28776936C>ACA425499378PPP1CBc.138C>A (p.Leu46=)
c.54C>A (p.Leu18=)
c.105C>A (p.Leu35=)
n.252C>A
 COSMIC
2g.28776936C=CA1240875883PPP1CBc.138C= (p.Leu46=)
c.54C= (p.Leu18=)
c.105C= (p.Leu35=)
n.252C=
2g.28776936C>GCA425499381PPP1CBc.138C>G (p.Leu46=)
c.54C>G (p.Leu18=)
c.105C>G (p.Leu35=)
n.252C>G
 gnomAD v4
2g.28776936C>TCA425499383PPP1CBc.138C>T (p.Leu46=)
c.54C>T (p.Leu18=)
c.105C>T (p.Leu35=)
n.252C>T
 dbSNP gnomAD v3 gnomAD v4
2g.28776937A>CCA346581050PPP1CBc.139A>C (p.Ser47Arg)
c.55A>C (p.Ser19Arg)
c.106A>C (p.Ser36Arg)
n.253A>C
2g.28776937A>GCA346581052PPP1CBc.139A>G (p.Ser47Gly)
c.55A>G (p.Ser19Gly)
c.106A>G (p.Ser36Gly)
n.253A>G
 ClinVar
2g.28776937A>TCA346581053PPP1CBc.139A>T (p.Ser47Cys)
c.55A>T (p.Ser19Cys)
c.106A>T (p.Ser36Cys)
n.253A>T
2g.28776938G>ACA346581056PPP1CBc.140G>A (p.Ser47Asn)
c.56G>A (p.Ser19Asn)
c.107G>A (p.Ser36Asn)
n.254G>A
2g.28776938G>CCA346581058PPP1CBc.140G>C (p.Ser47Thr)
c.56G>C (p.Ser19Thr)
c.107G>C (p.Ser36Thr)
n.254G>C
2g.28776938G>TCA346581060PPP1CBc.140G>T (p.Ser47Ile)
c.56G>T (p.Ser19Ile)
c.107G>T (p.Ser36Ile)
n.254G>T
 COSMIC
2g.28776939C>ACA346581065PPP1CBc.141C>A (p.Ser47Arg)
c.57C>A (p.Ser19Arg)
c.108C>A (p.Ser36Arg)
n.255C>A
 ClinVar dbSNP
2g.28776939C>GCA346581066PPP1CBc.141C>G (p.Ser47Arg)
c.57C>G (p.Ser19Arg)
c.108C>G (p.Ser36Arg)
n.255C>G
2g.28776939C>TCA425499393PPP1CBc.141C>T (p.Ser47=)
c.57C>T (p.Ser19=)
c.108C>T (p.Ser36=)
n.255C>T
2g.28776940C>ACA346581068PPP1CBc.142C>A (p.Gln48Lys)
c.58C>A (p.Gln20Lys)
c.109C>A (p.Gln37Lys)
n.256C>A
2g.28776940C>GCA346581071PPP1CBc.142C>G (p.Gln48Glu)
c.58C>G (p.Gln20Glu)
c.109C>G (p.Gln37Glu)
n.256C>G
 ClinVar
2g.28776940C>TCA346581074PPP1CBc.142C>T (p.Gln48Ter)
c.58C>T (p.Gln20Ter)
c.109C>T (p.Gln37Ter)
n.256C>T
2g.28776941A>CCA346581077PPP1CBc.143A>C (p.Gln48Pro)
c.59A>C (p.Gln20Pro)
c.110A>C (p.Gln37Pro)
n.257A>C
2g.28776941A>GCA346581079PPP1CBc.143A>G (p.Gln48Arg)
c.59A>G (p.Gln20Arg)
c.110A>G (p.Gln37Arg)
n.257A>G
2g.28776941A>TCA346581082PPP1CBc.143A>T (p.Gln48Leu)
c.59A>T (p.Gln20Leu)
c.110A>T (p.Gln37Leu)
n.257A>T
2g.28776942G>ACA425499405PPP1CBc.144G>A (p.Gln48=)
c.60G>A (p.Gln20=)
c.111G>A (p.Gln37=)
n.258G>A
2g.28776942G>CCA346581084PPP1CBc.144G>C (p.Gln48His)
c.60G>C (p.Gln20His)
c.111G>C (p.Gln37His)
n.258G>C
2g.28776942G>TCA346581087PPP1CBc.144G>T (p.Gln48His)
c.60G>T (p.Gln20His)
c.111G>T (p.Gln37His)
n.258G>T
2g.28776943C>ACA346581091PPP1CBc.145C>A (p.Pro49Thr)
c.61C>A (p.Pro21Thr)
c.112C>A (p.Pro38Thr)
n.259C>A
 ClinVar
2g.28776943C>GCA346581094PPP1CBc.145C>G (p.Pro49Ala)
c.61C>G (p.Pro21Ala)
c.112C>G (p.Pro38Ala)
n.259C>G
 gnomAD v4
2g.28776943C>TCA346581095PPP1CBc.145C>T (p.Pro49Ser)
c.61C>T (p.Pro21Ser)
c.112C>T (p.Pro38Ser)
n.259C>T
2g.28776944C>ACA346581097PPP1CBc.146C>A (p.Pro49His)
c.62C>A (p.Pro21His)
c.113C>A (p.Pro38His)
n.260C>A
2g.28776944C=CA1240875888PPP1CBc.146C= (p.Pro49=)
c.62C= (p.Pro21=)
c.113C= (p.Pro38=)
n.260C=
2g.28776944C>GCA10586682PPP1CBc.146C>G (p.Pro49Arg)
c.62C>G (p.Pro21Arg)
c.113C>G (p.Pro38Arg)
n.260C>G
 ClinVar dbSNP
2g.28776944C>TCA346581099PPP1CBc.146C>T (p.Pro49Leu)
c.62C>T (p.Pro21Leu)
c.113C>T (p.Pro38Leu)
n.260C>T
2g.28776945T>ACA425499418PPP1CBc.147T>A (p.Pro49=)
c.63T>A (p.Pro21=)
c.114T>A (p.Pro38=)
n.261T>A
2g.28776945T>CCA425499420PPP1CBc.147T>C (p.Pro49=)
c.63T>C (p.Pro21=)
c.114T>C (p.Pro38=)
n.261T>C
 gnomAD v4
2g.28776945T>GCA425499423PPP1CBc.147T>G (p.Pro49=)
c.63T>G (p.Pro21=)
c.114T>G (p.Pro38=)
n.261T>G
2g.28776946A=CA1240875893PPP1CBc.148A= (p.Ile50=)
c.64A= (p.Ile22=)
c.115A= (p.Ile39=)
n.262A=
2g.28776946A>CCA346581101PPP1CBc.148A>C (p.Ile50Leu)
c.64A>C (p.Ile22Leu)
c.115A>C (p.Ile39Leu)
n.262A>C
2g.28776946A>GCA1589167PPP1CBc.148A>G (p.Ile50Val)
c.64A>G (p.Ile22Val)
c.115A>G (p.Ile39Val)
n.262A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.28776946A>TCA346581102PPP1CBc.148A>T (p.Ile50Phe)
c.64A>T (p.Ile22Phe)
c.115A>T (p.Ile39Phe)
n.262A>T
2g.28776947T>ACA346581103PPP1CBc.149T>A (p.Ile50Asn)
c.65T>A (p.Ile22Asn)
c.116T>A (p.Ile39Asn)
n.263T>A
2g.28776947T>CCA346581104PPP1CBc.149T>C (p.Ile50Thr)
c.65T>C (p.Ile22Thr)
c.116T>C (p.Ile39Thr)
n.263T>C
2g.28776947T>GCA346581105PPP1CBc.149T>G (p.Ile50Ser)
c.65T>G (p.Ile22Ser)
c.116T>G (p.Ile39Ser)
n.263T>G
2g.28776948T>ACA425499433PPP1CBc.150T>A (p.Ile50=)
c.66T>A (p.Ile22=)
c.117T>A (p.Ile39=)
n.264T>A
2g.28776948T>CCA425499436PPP1CBc.150T>C (p.Ile50=)
c.66T>C (p.Ile22=)
c.117T>C (p.Ile39=)
n.264T>C
2g.28776948T>GCA346581107PPP1CBc.150T>G (p.Ile50Met)
c.66T>G (p.Ile22Met)
c.117T>G (p.Ile39Met)
n.264T>G
2g.28776949C>ACA346581114PPP1CBc.151C>A (p.Leu51Ile)
c.67C>A (p.Leu23Ile)
c.118C>A (p.Leu40Ile)
n.265C>A
2g.28776949C>GCA346581109PPP1CBc.151C>G (p.Leu51Val)
c.67C>G (p.Leu23Val)
c.118C>G (p.Leu40Val)
n.265C>G
2g.28776949C>TCA346581110PPP1CBc.151C>T (p.Leu51Phe)
c.67C>T (p.Leu23Phe)
c.118C>T (p.Leu40Phe)
n.265C>T

Number of alleles fetched