Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.28776878T>A | CA346580698 | PPP1CB | c.80T>A (p.Val27Glu) c.-5T>A (n.-5T>A) c.47T>A (p.Val16Glu) n.194T>A | |
2 | g.28776878T>C | CA346580700 | PPP1CB | c.80T>C (p.Val27Ala) c.-5T>C (n.-5T>C) c.47T>C (p.Val16Ala) n.194T>C | gnomAD v4 |
2 | g.28776878T>G | CA346580702 | PPP1CB | c.80T>G (p.Val27Gly) c.-5T>G (n.-5T>G) c.47T>G (p.Val16Gly) n.194T>G | |
2 | g.28776879G>A | CA425499139 | PPP1CB | c.81G>A (p.Val27=) c.-4G>A (n.-4G>A) c.48G>A (p.Val16=) n.195G>A | gnomAD v4 |
2 | g.28776879G>C | CA425499140 | PPP1CB | c.81G>C (p.Val27=) c.-4G>C (n.-4G>C) c.48G>C (p.Val16=) n.195G>C | |
2 | g.28776879G>T | CA425499141 | PPP1CB | c.81G>T (p.Val27=) c.-4G>T (n.-4G>T) c.48G>T (p.Val16=) n.195G>T | |
2 | g.28776880C>A | CA346580708 | PPP1CB | c.82C>A (p.Gln28Lys) c.-3C>A (n.-3C>A) c.49C>A (p.Gln17Lys) n.196C>A | |
2 | g.28776880C>G | CA346580705 | PPP1CB | c.82C>G (p.Gln28Glu) c.-3C>G (n.-3C>G) c.49C>G (p.Gln17Glu) n.196C>G | |
2 | g.28776880C>T | CA346580704 | PPP1CB | c.82C>T (p.Gln28Ter) c.-3C>T (n.-3C>T) c.49C>T (p.Gln17Ter) n.196C>T | |
2 | g.28776881A>C | CA346580725 | PPP1CB | c.83A>C (p.Gln28Pro) c.-2A>C (n.-2A>C) c.50A>C (p.Gln17Pro) n.197A>C | |
2 | g.28776881A>G | CA346580709 | PPP1CB | c.83A>G (p.Gln28Arg) c.-2A>G (n.-2A>G) c.50A>G (p.Gln17Arg) n.197A>G | |
2 | g.28776881A>T | CA346580722 | PPP1CB | c.83A>T (p.Gln28Leu) c.-2A>T (n.-2A>T) c.50A>T (p.Gln17Leu) n.197A>T | |
2 | g.28776882G>A | CA425499150 | PPP1CB | c.84G>A (p.Gln28=) c.-1G>A (n.-1G>A) c.51G>A (p.Gln17=) n.198G>A | |
2 | g.28776882G>C | CA346580732 | PPP1CB | c.84G>C (p.Gln28His) c.-1G>C (n.-1G>C) c.51G>C (p.Gln17His) n.198G>C | gnomAD v4 |
2 | g.28776882G>T | CA346580737 | PPP1CB | c.84G>T (p.Gln28His) c.-1G>T (n.-1G>T) c.51G>T (p.Gln17His) n.198G>T | |
2 | g.28776883A= | CA1240875829 | PPP1CB | c.85A= (p.Met29=) c.1A= (p.Met1=) c.52A= (p.Met18=) n.199A= | |
2 | g.28776883A>C | CA346580739 | PPP1CB | c.85A>C (p.Met29Leu) c.1A>C (p.Met1Leu) c.52A>C (p.Met18Leu) n.199A>C | |
2 | g.28776883A>G | CA346580740 | PPP1CB | c.85A>G (p.Met29Val) c.1A>G (p.Met1Val) c.52A>G (p.Met18Val) n.199A>G | dbSNP |
2 | g.28776883A>T | CA346580742 | PPP1CB | c.85A>T (p.Met29Leu) c.1A>T (p.Met1Leu) c.52A>T (p.Met18Leu) n.199A>T | |
2 | g.28776884T>A | CA346580744 | PPP1CB | c.86T>A (p.Met29Lys) c.2T>A (p.Met1Lys) c.53T>A (p.Met18Lys) n.200T>A | |
2 | g.28776884T>C | CA346580747 | PPP1CB | c.86T>C (p.Met29Thr) c.2T>C (p.Met1Thr) c.53T>C (p.Met18Thr) n.200T>C | gnomAD v4 |
2 | g.28776884T>G | CA346580748 | PPP1CB | c.86T>G (p.Met29Arg) c.2T>G (p.Met1Arg) c.53T>G (p.Met18Arg) n.200T>G | |
2 | g.28776885G>A | CA346580752 | PPP1CB | c.87G>A (p.Met29Ile) c.3G>A (p.Met1Ile) c.54G>A (p.Met18Ile) n.201G>A | |
2 | g.28776885G>C | CA346580753 | PPP1CB | c.87G>C (p.Met29Ile) c.3G>C (p.Met1Ile) c.54G>C (p.Met18Ile) n.201G>C | |
2 | g.28776885G>T | CA346580754 | PPP1CB | c.87G>T (p.Met29Ile) c.3G>T (p.Met1Ile) c.54G>T (p.Met18Ile) n.201G>T | gnomAD v4 COSMIC |
2 | g.28776886A= | CA1240875831 | PPP1CB | c.88A= (p.Thr30=) c.4A= (p.Thr2=) c.55A= (p.Thr19=) n.202A= | |
2 | g.28776886A>C | CA346580756 | PPP1CB | c.88A>C (p.Thr30Pro) c.4A>C (p.Thr2Pro) c.55A>C (p.Thr19Pro) n.202A>C | dbSNP |
2 | g.28776886A>G | CA346580757 | PPP1CB | c.88A>G (p.Thr30Ala) c.4A>G (p.Thr2Ala) c.55A>G (p.Thr19Ala) n.202A>G | |
2 | g.28776886A>T | CA346580755 | PPP1CB | c.88A>T (p.Thr30Ser) c.4A>T (p.Thr2Ser) c.55A>T (p.Thr19Ser) n.202A>T | |
2 | g.28776887C>A | CA346580758 | PPP1CB | c.89C>A (p.Thr30Asn) c.5C>A (p.Thr2Asn) c.56C>A (p.Thr19Asn) n.203C>A | |
2 | g.28776887C= | CA1240875833 | PPP1CB | c.89C= (p.Thr30=) c.5C= (p.Thr2=) c.56C= (p.Thr19=) n.203C= | |
2 | g.28776887C>G | CA346580759 | PPP1CB | c.89C>G (p.Thr30Ser) c.5C>G (p.Thr2Ser) c.56C>G (p.Thr19Ser) n.203C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.28776887C>T | CA346580760 | PPP1CB | c.89C>T (p.Thr30Ile) c.5C>T (p.Thr2Ile) c.56C>T (p.Thr19Ile) n.203C>T | gnomAD v4 |
2 | g.28776888T>A | CA425499175 | PPP1CB | c.90T>A (p.Thr30=) c.6T>A (p.Thr2=) c.57T>A (p.Thr19=) n.204T>A | |
2 | g.28776888T>C | CA425499176 | PPP1CB | c.90T>C (p.Thr30=) c.6T>C (p.Thr2=) c.57T>C (p.Thr19=) n.204T>C | dbSNP gnomAD v4 |
2 | g.28776888T>G | CA425499178 | PPP1CB | c.90T>G (p.Thr30=) c.6T>G (p.Thr2=) c.57T>G (p.Thr19=) n.204T>G | dbSNP gnomAD v4 |
2 | g.28776888T= | CA1240875837 | PPP1CB | c.90T= (p.Thr30=) c.6T= (p.Thr2=) c.57T= (p.Thr19=) n.204T= | |
2 | g.28776889G>A | CA346580761 | PPP1CB | c.91G>A (p.Glu31Lys) c.7G>A (p.Glu3Lys) c.58G>A (p.Glu20Lys) n.205G>A | COSMIC |
2 | g.28776889G>C | CA346580763 | PPP1CB | c.91G>C (p.Glu31Gln) c.7G>C (p.Glu3Gln) c.58G>C (p.Glu20Gln) n.205G>C | |
2 | g.28776889G>T | CA346580765 | PPP1CB | c.91G>T (p.Glu31Ter) c.7G>T (p.Glu3Ter) c.58G>T (p.Glu20Ter) n.205G>T | |
2 | g.28776890A>C | CA346580766 | PPP1CB | c.92A>C (p.Glu31Ala) c.8A>C (p.Glu3Ala) c.59A>C (p.Glu20Ala) n.206A>C | |
2 | g.28776890A>G | CA346580774 | PPP1CB | c.92A>G (p.Glu31Gly) c.8A>G (p.Glu3Gly) c.59A>G (p.Glu20Gly) n.206A>G | |
2 | g.28776890A>T | CA346580768 | PPP1CB | c.92A>T (p.Glu31Val) c.8A>T (p.Glu3Val) c.59A>T (p.Glu20Val) n.206A>T | |
2 | g.28776891A>C | CA346580777 | PPP1CB | c.93A>C (p.Glu31Asp) c.9A>C (p.Glu3Asp) c.60A>C (p.Glu20Asp) n.207A>C | |
2 | g.28776891A>G | CA425499187 | PPP1CB | c.93A>G (p.Glu31=) c.9A>G (p.Glu3=) c.60A>G (p.Glu20=) n.207A>G | ClinVar |
2 | g.28776891A>T | CA346580779 | PPP1CB | c.93A>T (p.Glu31Asp) c.9A>T (p.Glu3Asp) c.60A>T (p.Glu20Asp) n.207A>T | |
2 | g.28776892G>A | CA1589164 | PPP1CB | c.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 |
2 | g.28776892G>C | CA346580782 | PPP1CB | c.94G>C (p.Ala32Pro) c.10G>C (p.Ala4Pro) c.61G>C (p.Ala21Pro) n.208G>C | |
2 | g.28776892G= | CA1240875843 | PPP1CB | c.94G= (p.Ala32=) c.10G= (p.Ala4=) c.61G= (p.Ala21=) n.208G= | |
2 | g.28776892G>T | CA346580783 | PPP1CB | c.94G>T (p.Ala32Ser) c.10G>T (p.Ala4Ser) c.61G>T (p.Ala21Ser) n.208G>T |