Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.28776950T>ACA346581117PPP1CBc.152T>A (p.Leu51His)
c.68T>A (p.Leu23His)
c.119T>A (p.Leu40His)
n.266T>A
2g.28776950T>CCA346581119PPP1CBc.152T>C (p.Leu51Pro)
c.68T>C (p.Leu23Pro)
c.119T>C (p.Leu40Pro)
n.266T>C
2g.28776950T>GCA346581121PPP1CBc.152T>G (p.Leu51Arg)
c.68T>G (p.Leu23Arg)
c.119T>G (p.Leu40Arg)
n.266T>G
2g.28776951T>ACA425499446PPP1CBc.153T>A (p.Leu51=)
c.69T>A (p.Leu23=)
c.120T>A (p.Leu40=)
n.267T>A
2g.28776951T>CCA425499448PPP1CBc.153T>C (p.Leu51=)
c.69T>C (p.Leu23=)
c.120T>C (p.Leu40=)
n.267T>C
2g.28776951T>GCA425499450PPP1CBc.153T>G (p.Leu51=)
c.69T>G (p.Leu23=)
c.120T>G (p.Leu40=)
n.267T>G
 ClinVar gnomAD v4
2g.28776952T>ACA346581123PPP1CBc.154T>A (p.Leu52Met)
c.70T>A (p.Leu24Met)
c.121T>A (p.Leu41Met)
n.268T>A
2g.28776952T>CCA425499454PPP1CBc.154T>C (p.Leu52=)
c.70T>C (p.Leu24=)
c.121T>C (p.Leu41=)
n.268T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.28776952T>GCA346581124PPP1CBc.154T>G (p.Leu52Val)
c.70T>G (p.Leu24Val)
c.121T>G (p.Leu41Val)
n.268T>G
2g.28776952T=CA1240875897PPP1CBc.154T= (p.Leu52=)
c.70T= (p.Leu24=)
c.121T= (p.Leu41=)
n.268T=
2g.28776953T>ACA346581129PPP1CBc.155T>A (p.Leu52Ter)
c.71T>A (p.Leu24Ter)
c.122T>A (p.Leu41Ter)
n.269T>A
2g.28776953T>CCA346581126PPP1CBc.155T>C (p.Leu52Ser)
c.71T>C (p.Leu24Ser)
c.122T>C (p.Leu41Ser)
n.269T>C
2g.28776953T>GCA346581127PPP1CBc.155T>G (p.Leu52Trp)
c.71T>G (p.Leu24Trp)
c.122T>G (p.Leu41Trp)
n.269T>G
2g.28776954G>ACA425499461PPP1CBc.156G>A (p.Leu52=)
c.72G>A (p.Leu24=)
c.123G>A (p.Leu41=)
n.270G>A
 ClinVar
2g.28776954G>CCA346581131PPP1CBc.156G>C (p.Leu52Phe)
c.72G>C (p.Leu24Phe)
c.123G>C (p.Leu41Phe)
n.270G>C
2g.28776954G>TCA346581133PPP1CBc.156G>T (p.Leu52Phe)
c.72G>T (p.Leu24Phe)
c.123G>T (p.Leu41Phe)
n.270G>T
2g.28776955G>ACA346581135PPP1CBc.157G>A (p.Glu53Lys)
c.73G>A (p.Glu25Lys)
c.124G>A (p.Glu42Lys)
n.271G>A
 COSMIC
2g.28776955G>CCA346581137PPP1CBc.157G>C (p.Glu53Gln)
c.73G>C (p.Glu25Gln)
c.124G>C (p.Glu42Gln)
n.271G>C
2g.28776955G>TCA346581138PPP1CBc.157G>T (p.Glu53Ter)
c.73G>T (p.Glu25Ter)
c.124G>T (p.Glu42Ter)
n.271G>T
2g.28776956A>CCA346581140PPP1CBc.158A>C (p.Glu53Ala)
c.74A>C (p.Glu25Ala)
c.125A>C (p.Glu42Ala)
n.272A>C
2g.28776956A>GCA346581143PPP1CBc.158A>G (p.Glu53Gly)
c.74A>G (p.Glu25Gly)
c.125A>G (p.Glu42Gly)
n.272A>G
2g.28776956A>TCA346581142PPP1CBc.158A>T (p.Glu53Val)
c.74A>T (p.Glu25Val)
c.125A>T (p.Glu42Val)
n.272A>T
2g.28776957A>CCA346581145PPP1CBc.159A>C (p.Glu53Asp)
c.75A>C (p.Glu25Asp)
c.126A>C (p.Glu42Asp)
n.273A>C
2g.28776957A>GCA425499476PPP1CBc.159A>G (p.Glu53=)
c.75A>G (p.Glu25=)
c.126A>G (p.Glu42=)
n.273A>G
2g.28776957A>TCA346581146PPP1CBc.159A>T (p.Glu53Asp)
c.75A>T (p.Glu25Asp)
c.126A>T (p.Glu42Asp)
n.273A>T
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

Number of alleles fetched