Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.28776958T>ACA346581148PPP1CBc.160T>A (p.Leu54Met)
c.76T>A (p.Leu26Met)
c.127T>A (p.Leu43Met)
n.274T>A
2g.28776958T>CCA425499481PPP1CBc.160T>C (p.Leu54=)
c.76T>C (p.Leu26=)
c.127T>C (p.Leu43=)
n.274T>C
2g.28776958T>GCA346581150PPP1CBc.160T>G (p.Leu54Val)
c.76T>G (p.Leu26Val)
c.127T>G (p.Leu43Val)
n.274T>G
 COSMIC
2g.28776959T>ACA346581152PPP1CBc.161T>A (p.Leu54Ter)
c.77T>A (p.Leu26Ter)
c.128T>A (p.Leu43Ter)
n.275T>A
2g.28776959T>CCA346581154PPP1CBc.161T>C (p.Leu54Ser)
c.77T>C (p.Leu26Ser)
c.128T>C (p.Leu43Ser)
n.275T>C
2g.28776959T>GCA346581156PPP1CBc.161T>G (p.Leu54Trp)
c.77T>G (p.Leu26Trp)
c.128T>G (p.Leu43Trp)
n.275T>G
2g.28776960G>ACA425499489PPP1CBc.162G>A (p.Leu54=)
c.78G>A (p.Leu26=)
c.129G>A (p.Leu43=)
n.276G>A
2g.28776960G>CCA346581158PPP1CBc.162G>C (p.Leu54Phe)
c.78G>C (p.Leu26Phe)
c.129G>C (p.Leu43Phe)
n.276G>C
2g.28776960G>TCA346581160PPP1CBc.162G>T (p.Leu54Phe)
c.78G>T (p.Leu26Phe)
c.129G>T (p.Leu43Phe)
n.276G>T
2g.28776961G>ACA346581162PPP1CBc.163G>A (p.Glu55Lys)
c.79G>A (p.Glu27Lys)
c.130G>A (p.Glu44Lys)
n.277G>A
2g.28776961G>CCA346581163PPP1CBc.163G>C (p.Glu55Gln)
c.79G>C (p.Glu27Gln)
c.130G>C (p.Glu44Gln)
n.277G>C
2g.28776961G>TCA346581164PPP1CBc.163G>T (p.Glu55Ter)
c.79G>T (p.Glu27Ter)
c.130G>T (p.Glu44Ter)
n.277G>T
2g.28776962A>CCA346581165PPP1CBc.164A>C (p.Glu55Ala)
c.80A>C (p.Glu27Ala)
c.131A>C (p.Glu44Ala)
n.278A>C
2g.28776962A>GCA346581167PPP1CBc.164A>G (p.Glu55Gly)
c.80A>G (p.Glu27Gly)
c.131A>G (p.Glu44Gly)
n.278A>G
2g.28776962A>TCA346581166PPP1CBc.164A>T (p.Glu55Val)
c.80A>T (p.Glu27Val)
c.131A>T (p.Glu44Val)
n.278A>T
2g.28776963A>CCA346581168PPP1CBc.165A>C (p.Glu55Asp)
c.81A>C (p.Glu27Asp)
c.132A>C (p.Glu44Asp)
n.279A>C
2g.28776963A>GCA425499503PPP1CBc.165A>G (p.Glu55=)
c.81A>G (p.Glu27=)
c.132A>G (p.Glu44=)
n.279A>G
 gnomAD v4
2g.28776963A>TCA346581169PPP1CBc.165A>T (p.Glu55Asp)
c.81A>T (p.Glu27Asp)
c.132A>T (p.Glu44Asp)
n.279A>T
 gnomAD v4
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

Number of alleles fetched