Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.28776964G>ACA346581170PPP1CBc.166G>A (p.Ala56Thr)
c.82G>A (p.Ala28Thr)
c.133G>A (p.Ala45Thr)
n.280G>A
2g.28776964G>CCA346581171PPP1CBc.166G>C (p.Ala56Pro)
c.82G>C (p.Ala28Pro)
c.133G>C (p.Ala45Pro)
n.280G>C
 ClinVar dbSNP
2g.28776964G=CA1240875899PPP1CBc.166G= (p.Ala56=)
c.82G= (p.Ala28=)
c.133G= (p.Ala45=)
n.280G=
2g.28776964G>TCA346581173PPP1CBc.166G>T (p.Ala56Ser)
c.82G>T (p.Ala28Ser)
c.133G>T (p.Ala45Ser)
n.280G>T
2g.28776965C>ACA346581175PPP1CBc.167C>A (p.Ala56Glu)
c.83C>A (p.Ala28Glu)
c.134C>A (p.Ala45Glu)
n.281C>A
2g.28776965C>GCA346581176PPP1CBc.167C>G (p.Ala56Gly)
c.83C>G (p.Ala28Gly)
c.134C>G (p.Ala45Gly)
n.281C>G
2g.28776965C>TCA346581177PPP1CBc.167C>T (p.Ala56Val)
c.83C>T (p.Ala28Val)
c.134C>T (p.Ala45Val)
n.281C>T
2g.28776966A>CCA425499515PPP1CBc.168A>C (p.Ala56=)
c.84A>C (p.Ala28=)
c.135A>C (p.Ala45=)
n.282A>C
2g.28776966A>GCA425499517PPP1CBc.168A>G (p.Ala56=)
c.84A>G (p.Ala28=)
c.135A>G (p.Ala45=)
n.282A>G
 gnomAD v4
2g.28776966A>TCA425499520PPP1CBc.168A>T (p.Ala56=)
c.84A>T (p.Ala28=)
c.135A>T (p.Ala45=)
n.282A>T
2g.28776967C>ACA346581178PPP1CBc.169C>A (p.Pro57Thr)
c.85C>A (p.Pro29Thr)
c.136C>A (p.Pro46Thr)
n.283C>A
2g.28776967C=CA1240875904PPP1CBc.169C= (p.Pro57=)
c.85C= (p.Pro29=)
c.136C= (p.Pro46=)
n.283C=
2g.28776967C>GCA346581179PPP1CBc.169C>G (p.Pro57Ala)
c.85C>G (p.Pro29Ala)
c.136C>G (p.Pro46Ala)
n.283C>G
 gnomAD v4
2g.28776967C>TCA346581181PPP1CBc.169C>T (p.Pro57Ser)
c.85C>T (p.Pro29Ser)
c.136C>T (p.Pro46Ser)
n.283C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.28776968C>ACA346581185PPP1CBc.170C>A (p.Pro57Gln)
c.86C>A (p.Pro29Gln)
c.137C>A (p.Pro46Gln)
n.284C>A
2g.28776968C>GCA346581184PPP1CBc.170C>G (p.Pro57Arg)
c.86C>G (p.Pro29Arg)
c.137C>G (p.Pro46Arg)
n.284C>G
2g.28776968C>TCA346581183PPP1CBc.170C>T (p.Pro57Leu)
c.86C>T (p.Pro29Leu)
c.137C>T (p.Pro46Leu)
n.284C>T
2g.28776969G>ACA1589168PPP1CBc.171G>A (p.Pro57=)
c.87G>A (p.Pro29=)
c.138G>A (p.Pro46=)
n.285G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.28776969G>CCA425499533PPP1CBc.171G>C (p.Pro57=)
c.87G>C (p.Pro29=)
c.138G>C (p.Pro46=)
n.285G>C
2g.28776969G=CA1240875910PPP1CBc.171G= (p.Pro57=)
c.87G= (p.Pro29=)
c.138G= (p.Pro46=)
n.285G=
2g.28776969G>TCA425499528PPP1CBc.171G>T (p.Pro57=)
c.87G>T (p.Pro29=)
c.138G>T (p.Pro46=)
n.285G>T
 dbSNP gnomAD v3 gnomAD v4
2g.28776970C>ACA346581189PPP1CBc.172C>A (p.Leu58Met)
c.88C>A (p.Leu30Met)
c.139C>A (p.Leu47Met)
n.286C>A
2g.28776970C>GCA346581190PPP1CBc.172C>G (p.Leu58Val)
c.88C>G (p.Leu30Val)
c.139C>G (p.Leu47Val)
n.286C>G
2g.28776970C>TCA425499536PPP1CBc.172C>T (p.Leu58=)
c.88C>T (p.Leu30=)
c.139C>T (p.Leu47=)
n.286C>T
2g.28776971T>ACA346581192PPP1CBc.173T>A (p.Leu58Gln)
c.89T>A (p.Leu30Gln)
c.140T>A (p.Leu47Gln)
n.287T>A
2g.28776971T>CCA346581194PPP1CBc.173T>C (p.Leu58Pro)
c.89T>C (p.Leu30Pro)
c.140T>C (p.Leu47Pro)
n.287T>C
2g.28776971T>GCA346581196PPP1CBc.173T>G (p.Leu58Arg)
c.89T>G (p.Leu30Arg)
c.140T>G (p.Leu47Arg)
n.287T>G
2g.28776972G>ACA425499542PPP1CBc.174G>A (p.Leu58=)
c.90G>A (p.Leu30=)
c.141G>A (p.Leu47=)
n.288G>A
 gnomAD v4
2g.28776972G>CCA425499544PPP1CBc.174G>C (p.Leu58=)
c.90G>C (p.Leu30=)
c.141G>C (p.Leu47=)
n.288G>C
2g.28776972G>TCA425499546PPP1CBc.174G>T (p.Leu58=)
c.90G>T (p.Leu30=)
c.141G>T (p.Leu47=)
n.288G>T
2g.28776973A>CCA346581197PPP1CBc.175A>C (p.Lys59Gln)
c.91A>C (p.Lys31Gln)
c.142A>C (p.Lys48Gln)
n.289A>C
2g.28776973A>GCA346581199PPP1CBc.175A>G (p.Lys59Glu)
c.91A>G (p.Lys31Glu)
c.142A>G (p.Lys48Glu)
n.289A>G
2g.28776973A>TCA346581201PPP1CBc.175A>T (p.Lys59Ter)
c.91A>T (p.Lys31Ter)
c.142A>T (p.Lys48Ter)
n.289A>T
2g.28776974A=CA1240875911PPP1CBc.176A= (p.Lys59=)
c.92A= (p.Lys31=)
c.143A= (p.Lys48=)
n.290A=
2g.28776974A>CCA346581203PPP1CBc.176A>C (p.Lys59Thr)
c.92A>C (p.Lys31Thr)
c.143A>C (p.Lys48Thr)
n.290A>C
2g.28776974A>GCA346581204PPP1CBc.176A>G (p.Lys59Arg)
c.92A>G (p.Lys31Arg)
c.143A>G (p.Lys48Arg)
n.290A>G
 dbSNP
2g.28776974A>TCA346581206PPP1CBc.176A>T (p.Lys59Ile)
c.92A>T (p.Lys31Ile)
c.143A>T (p.Lys48Ile)
n.290A>T
2g.28776975A=CA1240875914PPP1CBc.177A= (p.Lys59=)
c.93A= (p.Lys31=)
c.144A= (p.Lys48=)
n.291A=
2g.28776975A>CCA346581207PPP1CBc.177A>C (p.Lys59Asn)
c.93A>C (p.Lys31Asn)
c.144A>C (p.Lys48Asn)
n.291A>C
2g.28776975A>GCA1589169PPP1CBc.177A>G (p.Lys59=)
c.93A>G (p.Lys31=)
c.144A>G (p.Lys48=)
n.291A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.28776975A>TCA346581209PPP1CBc.177A>T (p.Lys59Asn)
c.93A>T (p.Lys31Asn)
c.144A>T (p.Lys48Asn)
n.291A>T
2g.28776976A>CCA346581212PPP1CBc.178A>C (p.Ile60Leu)
c.94A>C (p.Ile32Leu)
c.145A>C (p.Ile49Leu)
n.292A>C
2g.28776976A>GCA346581214PPP1CBc.178A>G (p.Ile60Val)
c.94A>G (p.Ile32Val)
c.145A>G (p.Ile49Val)
n.292A>G
2g.28776976A>TCA346581213PPP1CBc.178A>T (p.Ile60Phe)
c.94A>T (p.Ile32Phe)
c.145A>T (p.Ile49Phe)
n.292A>T
2g.28776977T>ACA346581215PPP1CBc.179T>A (p.Ile60Asn)
c.95T>A (p.Ile32Asn)
c.146T>A (p.Ile49Asn)
n.293T>A
2g.28776977T>CCA346581221PPP1CBc.179T>C (p.Ile60Thr)
c.95T>C (p.Ile32Thr)
c.146T>C (p.Ile49Thr)
n.293T>C
2g.28776977T>GCA346581219PPP1CBc.179T>G (p.Ile60Ser)
c.95T>G (p.Ile32Ser)
c.146T>G (p.Ile49Ser)
n.293T>G
2g.28776978T>ACA425499574PPP1CBc.180T>A (p.Ile60=)
c.96T>A (p.Ile32=)
c.147T>A (p.Ile49=)
n.294T>A
2g.28776978T>CCA425499575PPP1CBc.180T>C (p.Ile60=)
c.96T>C (p.Ile32=)
c.147T>C (p.Ile49=)
n.294T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.28776978T>GCA346581222PPP1CBc.180T>G (p.Ile60Met)
c.96T>G (p.Ile32Met)
c.147T>G (p.Ile49Met)
n.294T>G

Number of alleles fetched