Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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
 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

Number of alleles fetched