Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
2 | g.28776893C>A | CA346580789 | PPP1CB | c.95C>A (p.Ala32Glu) c.11C>A (p.Ala4Glu) c.62C>A (p.Ala21Glu) n.209C>A | |
2 | g.28776893C>G | CA346580792 | PPP1CB | c.95C>G (p.Ala32Gly) c.11C>G (p.Ala4Gly) c.62C>G (p.Ala21Gly) n.209C>G | |
2 | g.28776893C>T | CA346580786 | PPP1CB | c.95C>T (p.Ala32Val) c.11C>T (p.Ala4Val) c.62C>T (p.Ala21Val) n.209C>T | ClinVar dbSNP gnomAD v4 |
2 | g.28776894A>C | CA425499200 | PPP1CB | c.96A>C (p.Ala32=) c.12A>C (p.Ala4=) c.63A>C (p.Ala21=) n.210A>C | |
2 | g.28776894A>G | CA425499203 | PPP1CB | c.96A>G (p.Ala32=) c.12A>G (p.Ala4=) c.63A>G (p.Ala21=) n.210A>G | |
2 | g.28776894A>T | CA425499205 | PPP1CB | c.96A>T (p.Ala32=) c.12A>T (p.Ala4=) c.63A>T (p.Ala21=) n.210A>T | |
2 | g.28776895G>A | CA346580795 | PPP1CB | c.97G>A (p.Glu33Lys) c.13G>A (p.Glu5Lys) c.64G>A (p.Glu22Lys) n.211G>A | |
2 | g.28776895G>C | CA346580808 | PPP1CB | c.97G>C (p.Glu33Gln) c.13G>C (p.Glu5Gln) c.64G>C (p.Glu22Gln) n.211G>C | |
2 | g.28776895G>T | CA346580816 | PPP1CB | c.97G>T (p.Glu33Ter) c.13G>T (p.Glu5Ter) c.64G>T (p.Glu22Ter) n.211G>T | |
2 | g.28776896A>C | CA346580819 | PPP1CB | c.98A>C (p.Glu33Ala) c.14A>C (p.Glu5Ala) c.65A>C (p.Glu22Ala) n.212A>C | |
2 | g.28776896A>G | CA346580820 | PPP1CB | c.98A>G (p.Glu33Gly) c.14A>G (p.Glu5Gly) c.65A>G (p.Glu22Gly) n.212A>G | |
2 | g.28776896A>T | CA346580821 | PPP1CB | c.98A>T (p.Glu33Val) c.14A>T (p.Glu5Val) c.65A>T (p.Glu22Val) n.212A>T | |
2 | g.28776897A>C | CA346580822 | PPP1CB | c.99A>C (p.Glu33Asp) c.15A>C (p.Glu5Asp) c.66A>C (p.Glu22Asp) n.213A>C | |
2 | g.28776897A>G | CA425499216 | PPP1CB | c.99A>G (p.Glu33=) c.15A>G (p.Glu5=) c.66A>G (p.Glu22=) n.213A>G | gnomAD v4 |
2 | g.28776897A>T | CA346580823 | PPP1CB | c.99A>T (p.Glu33Asp) c.15A>T (p.Glu5Asp) c.66A>T (p.Glu22Asp) n.213A>T | |
2 | g.28776898G>A | CA346580824 | PPP1CB | c.100G>A (p.Val34Ile) c.16G>A (p.Val6Ile) c.67G>A (p.Val23Ile) n.214G>A | |
2 | g.28776898G>C | CA346580826 | PPP1CB | c.100G>C (p.Val34Leu) c.16G>C (p.Val6Leu) c.67G>C (p.Val23Leu) n.214G>C | |
2 | g.28776898G>T | CA346580827 | PPP1CB | c.100G>T (p.Val34Phe) c.16G>T (p.Val6Phe) c.67G>T (p.Val23Phe) n.214G>T | |
2 | g.28776899T>A | CA346580830 | PPP1CB | c.101T>A (p.Val34Asp) c.17T>A (p.Val6Asp) c.68T>A (p.Val23Asp) n.215T>A | |
2 | g.28776899T>C | CA346580833 | PPP1CB | c.101T>C (p.Val34Ala) c.17T>C (p.Val6Ala) c.68T>C (p.Val23Ala) n.215T>C | |
2 | g.28776899T>G | CA346580835 | PPP1CB | c.101T>G (p.Val34Gly) c.17T>G (p.Val6Gly) c.68T>G (p.Val23Gly) n.215T>G | |
2 | g.28776900T>A | CA425499227 | PPP1CB | c.102T>A (p.Val34=) c.18T>A (p.Val6=) c.69T>A (p.Val23=) n.216T>A | ClinVar dbSNP |
2 | g.28776900T>C | CA425499230 | PPP1CB | c.102T>C (p.Val34=) c.18T>C (p.Val6=) c.69T>C (p.Val23=) n.216T>C | |
2 | g.28776900T>G | CA425499234 | PPP1CB | c.102T>G (p.Val34=) c.18T>G (p.Val6=) c.69T>G (p.Val23=) n.216T>G | |
2 | g.28776901C>A | CA425499238 | PPP1CB | c.103C>A (p.Arg35=) c.19C>A (p.Arg7=) c.70C>A (p.Arg24=) n.217C>A | |
2 | g.28776901C>G | CA346580845 | PPP1CB | c.103C>G (p.Arg35Gly) c.19C>G (p.Arg7Gly) c.70C>G (p.Arg24Gly) n.217C>G | |
2 | g.28776901C>T | CA346580837 | PPP1CB | c.103C>T (p.Arg35Ter) c.19C>T (p.Arg7Ter) c.70C>T (p.Arg24Ter) n.217C>T | |
2 | g.28776902G>A | CA346580847 | PPP1CB | c.104G>A (p.Arg35Gln) c.20G>A (p.Arg7Gln) c.71G>A (p.Arg24Gln) n.218G>A | ClinVar dbSNP gnomAD v4 |
2 | g.28776902G>C | CA346580848 | PPP1CB | c.104G>C (p.Arg35Pro) c.20G>C (p.Arg7Pro) c.71G>C (p.Arg24Pro) n.218G>C | |
2 | g.28776902G= | CA1240875845 | PPP1CB | c.104G= (p.Arg35=) c.20G= (p.Arg7=) c.71G= (p.Arg24=) n.218G= | |
2 | g.28776902G>T | CA346580849 | PPP1CB | c.104G>T (p.Arg35Leu) c.20G>T (p.Arg7Leu) c.71G>T (p.Arg24Leu) n.218G>T | |
2 | g.28776903A>C | CA425499241 | PPP1CB | c.105A>C (p.Arg35=) c.21A>C (p.Arg7=) c.72A>C (p.Arg24=) n.219A>C | |
2 | g.28776903A>G | CA425499242 | PPP1CB | c.105A>G (p.Arg35=) c.21A>G (p.Arg7=) c.72A>G (p.Arg24=) n.219A>G | |
2 | g.28776903A>T | CA425499243 | PPP1CB | c.105A>T (p.Arg35=) c.21A>T (p.Arg7=) c.72A>T (p.Arg24=) n.219A>T | |
2 | g.28776904G>A | CA346580850 | PPP1CB | c.106G>A (p.Gly36Ser) c.22G>A (p.Gly8Ser) c.73G>A (p.Gly25Ser) n.220G>A | |
2 | g.28776904G>C | CA346580852 | PPP1CB | c.106G>C (p.Gly36Arg) c.22G>C (p.Gly8Arg) c.73G>C (p.Gly25Arg) n.220G>C | |
2 | g.28776904G>T | CA346580858 | PPP1CB | c.106G>T (p.Gly36Cys) c.22G>T (p.Gly8Cys) c.73G>T (p.Gly25Cys) n.220G>T | |
2 | g.28776905G>A | CA346580867 | PPP1CB | c.107G>A (p.Gly36Asp) c.23G>A (p.Gly8Asp) c.74G>A (p.Gly25Asp) n.221G>A | |
2 | g.28776905G>C | CA346580863 | PPP1CB | c.107G>C (p.Gly36Ala) c.23G>C (p.Gly8Ala) c.74G>C (p.Gly25Ala) n.221G>C | |
2 | g.28776905G= | CA1240875847 | PPP1CB | c.107G= (p.Gly36=) c.23G= (p.Gly8=) c.74G= (p.Gly25=) n.221G= | |
2 | g.28776905G>T | CA346580865 | PPP1CB | c.107G>T (p.Gly36Val) c.23G>T (p.Gly8Val) c.74G>T (p.Gly25Val) n.221G>T | dbSNP |
2 | g.28776906C>A | CA425499253 | PPP1CB | c.108C>A (p.Gly36=) c.24C>A (p.Gly8=) c.75C>A (p.Gly25=) n.222C>A | |
2 | g.28776906C= | CA1240875851 | PPP1CB | c.108C= (p.Gly36=) c.24C= (p.Gly8=) c.75C= (p.Gly25=) n.222C= | |
2 | g.28776906C>G | CA425499255 | PPP1CB | c.108C>G (p.Gly36=) c.24C>G (p.Gly8=) c.75C>G (p.Gly25=) n.222C>G | dbSNP |
2 | g.28776906C>T | CA425499250 | PPP1CB | c.108C>T (p.Gly36=) c.24C>T (p.Gly8=) c.75C>T (p.Gly25=) n.222C>T | |
2 | g.28776907T>A | CA346580871 | PPP1CB | c.109T>A (p.Leu37Ile) c.25T>A (p.Leu9Ile) c.76T>A (p.Leu26Ile) n.223T>A | |
2 | g.28776907T>C | CA425499260 | PPP1CB | c.109T>C (p.Leu37=) c.25T>C (p.Leu9=) c.76T>C (p.Leu26=) n.223T>C | |
2 | g.28776907T>G | CA346580873 | PPP1CB | c.109T>G (p.Leu37Val) c.25T>G (p.Leu9Val) c.76T>G (p.Leu26Val) n.223T>G | |
2 | g.28776908T>A | CA346580876 | PPP1CB | c.110T>A (p.Leu37Ter) c.26T>A (p.Leu9Ter) c.77T>A (p.Leu26Ter) n.224T>A | |
2 | g.28776908T>C | CA346580878 | PPP1CB | c.110T>C (p.Leu37Ser) c.26T>C (p.Leu9Ser) c.77T>C (p.Leu26Ser) n.224T>C | |
2 | g.28776908T>G | CA346580880 | PPP1CB | c.110T>G (p.Leu37Ter) c.26T>G (p.Leu9Ter) c.77T>G (p.Leu26Ter) n.224T>G | |
2 | g.28776911_28776914dup | CA2580066272 | PPP1CB | c.113_116dup (p.Ile39MetfsTer?) c.29_32dup (p.Ile11MetfsTer31) c.29_32dup (p.Ile11MetfsTer?) c.113_116dup (p.Ile39MetfsTer31) c.80_83dup (p.Ile28MetfsTer?) n.227_230dup | ClinVar |
2 | g.28776909A= | CA1240875853 | PPP1CB | c.111A= (p.Leu37=) c.27A= (p.Leu9=) c.78A= (p.Leu26=) n.225A= | |
2 | g.28776909A>C | CA346580883 | PPP1CB | c.111A>C (p.Leu37Phe) c.27A>C (p.Leu9Phe) c.78A>C (p.Leu26Phe) n.225A>C | |
2 | g.28776909A>G | CA1589165 | PPP1CB | c.111A>G (p.Leu37=) c.27A>G (p.Leu9=) c.78A>G (p.Leu26=) n.225A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.28776909A>T | CA346580887 | PPP1CB | c.111A>T (p.Leu37Phe) c.27A>T (p.Leu9Phe) c.78A>T (p.Leu26Phe) n.225A>T | |
2 | g.28776910T>A | CA346580892 | PPP1CB | c.112T>A (p.Cys38Ser) c.28T>A (p.Cys10Ser) c.79T>A (p.Cys27Ser) n.226T>A | |
2 | g.28776910T>C | CA346580894 | PPP1CB | c.112T>C (p.Cys38Arg) c.28T>C (p.Cys10Arg) c.79T>C (p.Cys27Arg) n.226T>C | |
2 | g.28776910T>G | CA346580896 | PPP1CB | c.112T>G (p.Cys38Gly) c.28T>G (p.Cys10Gly) c.79T>G (p.Cys27Gly) n.226T>G | |
2 | g.28776911G>A | CA346580898 | PPP1CB | c.113G>A (p.Cys38Tyr) c.29G>A (p.Cys10Tyr) c.80G>A (p.Cys27Tyr) n.227G>A | |
2 | g.28776911G>C | CA346580899 | PPP1CB | c.113G>C (p.Cys38Ser) c.29G>C (p.Cys10Ser) c.80G>C (p.Cys27Ser) n.227G>C | |
2 | g.28776911G>T | CA346580901 | PPP1CB | c.113G>T (p.Cys38Phe) c.29G>T (p.Cys10Phe) c.80G>T (p.Cys27Phe) n.227G>T | |
2 | g.28776912T>A | CA346580904 | PPP1CB | c.114T>A (p.Cys38Ter) c.30T>A (p.Cys10Ter) c.81T>A (p.Cys27Ter) n.228T>A | |
2 | g.28776912T>C | CA225576 | PPP1CB | c.114T>C (p.Cys38=) c.30T>C (p.Cys10=) c.81T>C (p.Cys27=) n.228T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.28776912T>G | CA346580906 | PPP1CB | c.114T>G (p.Cys38Trp) c.30T>G (p.Cys10Trp) c.81T>G (p.Cys27Trp) n.228T>G | |
2 | g.28776912T= | CA1240875856 | PPP1CB | c.114T= (p.Cys38=) c.30T= (p.Cys10=) c.81T= (p.Cys27=) n.228T= | |
2 | g.28776913A>C | CA346580910 | PPP1CB | c.115A>C (p.Ile39Leu) c.31A>C (p.Ile11Leu) c.82A>C (p.Ile28Leu) n.229A>C | |
2 | g.28776913A>G | CA346580919 | PPP1CB | c.115A>G (p.Ile39Val) c.31A>G (p.Ile11Val) c.82A>G (p.Ile28Val) n.229A>G | gnomAD v4 COSMIC |
2 | g.28776913A>T | CA346580921 | PPP1CB | c.115A>T (p.Ile39Phe) c.31A>T (p.Ile11Phe) c.82A>T (p.Ile28Phe) n.229A>T | |
2 | g.28776914T>A | CA346580932 | PPP1CB | c.116T>A (p.Ile39Asn) c.32T>A (p.Ile11Asn) c.83T>A (p.Ile28Asn) n.230T>A | gnomAD v3 gnomAD v4 |
2 | g.28776914T>C | CA346580930 | PPP1CB | c.116T>C (p.Ile39Thr) c.32T>C (p.Ile11Thr) c.83T>C (p.Ile28Thr) n.230T>C | |
2 | g.28776914T>G | CA346580923 | PPP1CB | c.116T>G (p.Ile39Ser) c.32T>G (p.Ile11Ser) c.83T>G (p.Ile28Ser) n.230T>G | |
2 | g.28776915C>A | CA425499292 | PPP1CB | c.117C>A (p.Ile39=) c.33C>A (p.Ile11=) c.84C>A (p.Ile28=) n.231C>A | |
2 | g.28776915C>G | CA346580934 | PPP1CB | c.117C>G (p.Ile39Met) c.33C>G (p.Ile11Met) c.84C>G (p.Ile28Met) n.231C>G | |
2 | g.28776915C>T | CA425499296 | PPP1CB | c.117C>T (p.Ile39=) c.33C>T (p.Ile11=) c.84C>T (p.Ile28=) n.231C>T | |
2 | g.28776916A>C | CA346580938 | PPP1CB | c.118A>C (p.Lys40Gln) c.34A>C (p.Lys12Gln) c.85A>C (p.Lys29Gln) n.232A>C | gnomAD v4 |
2 | g.28776916A>G | CA346580940 | PPP1CB | c.118A>G (p.Lys40Glu) c.34A>G (p.Lys12Glu) c.85A>G (p.Lys29Glu) n.232A>G | |
2 | g.28776916A>T | CA346580943 | PPP1CB | c.118A>T (p.Lys40Ter) c.34A>T (p.Lys12Ter) c.85A>T (p.Lys29Ter) n.232A>T | |
2 | g.28776917A>C | CA346580946 | PPP1CB | c.119A>C (p.Lys40Thr) c.35A>C (p.Lys12Thr) c.86A>C (p.Lys29Thr) n.233A>C | |
2 | g.28776917A>G | CA346580948 | PPP1CB | c.119A>G (p.Lys40Arg) c.35A>G (p.Lys12Arg) c.86A>G (p.Lys29Arg) n.233A>G | |
2 | g.28776917A>T | CA346580949 | PPP1CB | c.119A>T (p.Lys40Met) c.35A>T (p.Lys12Met) c.86A>T (p.Lys29Met) n.233A>T | |
2 | g.28776918G>A | CA425499308 | PPP1CB | c.120G>A (p.Lys40=) c.36G>A (p.Lys12=) c.87G>A (p.Lys29=) n.234G>A | |
2 | g.28776918G>C | CA346580950 | PPP1CB | c.120G>C (p.Lys40Asn) c.36G>C (p.Lys12Asn) c.87G>C (p.Lys29Asn) n.234G>C | |
2 | g.28776918G>T | CA346580951 | PPP1CB | c.120G>T (p.Lys40Asn) c.36G>T (p.Lys12Asn) c.87G>T (p.Lys29Asn) n.234G>T | |
2 | g.28776919T>A | CA346580954 | PPP1CB | c.121T>A (p.Ser41Thr) c.37T>A (p.Ser13Thr) c.88T>A (p.Ser30Thr) n.235T>A | |
2 | g.28776919T>C | CA346580956 | PPP1CB | c.121T>C (p.Ser41Pro) c.37T>C (p.Ser13Pro) c.88T>C (p.Ser30Pro) n.235T>C | |
2 | g.28776919T>G | CA346580960 | PPP1CB | c.121T>G (p.Ser41Ala) c.37T>G (p.Ser13Ala) c.88T>G (p.Ser30Ala) n.235T>G | |
2 | g.28776920C>A | CA346580962 | PPP1CB | c.122C>A (p.Ser41Tyr) c.38C>A (p.Ser13Tyr) c.89C>A (p.Ser30Tyr) n.236C>A | |
2 | g.28776920C= | CA1240875862 | PPP1CB | c.122C= (p.Ser41=) c.38C= (p.Ser13=) c.89C= (p.Ser30=) n.236C= | |
2 | g.28776920C>G | CA346580963 | PPP1CB | c.122C>G (p.Ser41Cys) c.38C>G (p.Ser13Cys) c.89C>G (p.Ser30Cys) n.236C>G | |
2 | g.28776920C>T | CA1589166 | PPP1CB | c.122C>T (p.Ser41Phe) c.38C>T (p.Ser13Phe) c.89C>T (p.Ser30Phe) n.236C>T | dbSNP ExAC gnomAD v2 |
2 | g.28776921T>A | CA425499321 | PPP1CB | c.123T>A (p.Ser41=) c.39T>A (p.Ser13=) c.90T>A (p.Ser30=) n.237T>A | ClinVar dbSNP |
2 | g.28776921T>C | CA425499324 | PPP1CB | c.123T>C (p.Ser41=) c.39T>C (p.Ser13=) c.90T>C (p.Ser30=) n.237T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.28776921T>G | CA425499325 | PPP1CB | c.123T>G (p.Ser41=) c.39T>G (p.Ser13=) c.90T>G (p.Ser30=) n.237T>G | |
2 | g.28776921T= | CA1240875865 | PPP1CB | c.123T= (p.Ser41=) c.39T= (p.Ser13=) c.90T= (p.Ser30=) n.237T= | |
2 | g.28776922C>A | CA425499332 | PPP1CB | c.124C>A (p.Arg42=) c.40C>A (p.Arg14=) c.91C>A (p.Arg31=) n.238C>A | |
2 | g.28776922C>G | CA346580965 | PPP1CB | c.124C>G (p.Arg42Gly) c.40C>G (p.Arg14Gly) c.91C>G (p.Arg31Gly) n.238C>G | |
2 | g.28776922C>T | CA346580968 | PPP1CB | c.124C>T (p.Arg42Trp) c.40C>T (p.Arg14Trp) c.91C>T (p.Arg31Trp) n.238C>T | |
2 | g.28776923G>A | CA346580970 | PPP1CB | c.125G>A (p.Arg42Gln) c.41G>A (p.Arg14Gln) c.92G>A (p.Arg31Gln) n.239G>A | |
2 | g.28776923G>C | CA346580973 | PPP1CB | c.125G>C (p.Arg42Pro) c.41G>C (p.Arg14Pro) c.92G>C (p.Arg31Pro) n.239G>C | |
2 | g.28776923G>T | CA346580972 | PPP1CB | c.125G>T (p.Arg42Leu) c.41G>T (p.Arg14Leu) c.92G>T (p.Arg31Leu) n.239G>T | |
2 | g.28776924G>A | CA425499333 | PPP1CB | c.126G>A (p.Arg42=) c.42G>A (p.Arg14=) c.93G>A (p.Arg31=) n.240G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.28776924G>C | CA425499334 | PPP1CB | c.126G>C (p.Arg42=) c.42G>C (p.Arg14=) c.93G>C (p.Arg31=) n.240G>C | |
2 | g.28776924G= | CA1240875868 | PPP1CB | c.126G= (p.Arg42=) c.42G= (p.Arg14=) c.93G= (p.Arg31=) n.240G= | |
2 | g.28776924G>T | CA425499335 | PPP1CB | c.126G>T (p.Arg42=) c.42G>T (p.Arg14=) c.93G>T (p.Arg31=) n.240G>T | |
2 | g.28776925G>A | CA346580977 | PPP1CB | c.127G>A (p.Glu43Lys) c.43G>A (p.Glu15Lys) c.94G>A (p.Glu32Lys) n.241G>A | |
2 | g.28776925G>C | CA346580980 | PPP1CB | c.127G>C (p.Glu43Gln) c.43G>C (p.Glu15Gln) c.94G>C (p.Glu32Gln) n.241G>C | |
2 | g.28776925G>T | CA346580981 | PPP1CB | c.127G>T (p.Glu43Ter) c.43G>T (p.Glu15Ter) c.94G>T (p.Glu32Ter) n.241G>T | |
2 | g.28776926A>C | CA346580984 | PPP1CB | c.128A>C (p.Glu43Ala) c.44A>C (p.Glu15Ala) c.95A>C (p.Glu32Ala) n.242A>C | |
2 | g.28776926A>G | CA346580986 | PPP1CB | c.128A>G (p.Glu43Gly) c.44A>G (p.Glu15Gly) c.95A>G (p.Glu32Gly) n.242A>G | |
2 | g.28776926A>T | CA346580988 | PPP1CB | c.128A>T (p.Glu43Val) c.44A>T (p.Glu15Val) c.95A>T (p.Glu32Val) n.242A>T | |
2 | g.28776927G>A | CA425499342 | PPP1CB | c.129G>A (p.Glu43=) c.45G>A (p.Glu15=) c.96G>A (p.Glu32=) n.243G>A | dbSNP gnomAD v4 |
2 | g.28776927G>C | CA346580991 | PPP1CB | c.129G>C (p.Glu43Asp) c.45G>C (p.Glu15Asp) c.96G>C (p.Glu32Asp) n.243G>C | |
2 | g.28776927G= | CA1240875872 | PPP1CB | c.129G= (p.Glu43=) c.45G= (p.Glu15=) c.96G= (p.Glu32=) n.243G= | |
2 | g.28776927G>T | CA346580994 | PPP1CB | c.129G>T (p.Glu43Asp) c.45G>T (p.Glu15Asp) c.96G>T (p.Glu32Asp) n.243G>T | |
2 | g.28776928A>C | CA346580995 | PPP1CB | c.130A>C (p.Ile44Leu) c.46A>C (p.Ile16Leu) c.97A>C (p.Ile33Leu) n.244A>C | |
2 | g.28776928A>G | CA346580998 | PPP1CB | c.130A>G (p.Ile44Val) c.46A>G (p.Ile16Val) c.97A>G (p.Ile33Val) n.244A>G | COSMIC |
2 | g.28776928A>T | CA346580999 | PPP1CB | c.130A>T (p.Ile44Phe) c.46A>T (p.Ile16Phe) c.97A>T (p.Ile33Phe) n.244A>T | |
2 | g.28776929T>A | CA346581004 | PPP1CB | c.131T>A (p.Ile44Asn) c.47T>A (p.Ile16Asn) c.98T>A (p.Ile33Asn) n.245T>A | |
2 | g.28776929T>C | CA346581001 | PPP1CB | c.131T>C (p.Ile44Thr) c.47T>C (p.Ile16Thr) c.98T>C (p.Ile33Thr) n.245T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.28776929T>G | CA346581000 | PPP1CB | c.131T>G (p.Ile44Ser) c.47T>G (p.Ile16Ser) c.98T>G (p.Ile33Ser) n.245T>G | |
2 | g.28776929T= | CA1240875877 | PPP1CB | c.131T= (p.Ile44=) c.47T= (p.Ile16=) c.98T= (p.Ile33=) n.245T= | |
2 | g.28776930C>A | CA425499353 | PPP1CB | c.132C>A (p.Ile44=) c.48C>A (p.Ile16=) c.99C>A (p.Ile33=) n.246C>A | |
2 | g.28776930C= | CA1240875881 | PPP1CB | c.132C= (p.Ile44=) c.48C= (p.Ile16=) c.99C= (p.Ile33=) n.246C= | |
2 | g.28776930C>G | CA346581006 | PPP1CB | c.132C>G (p.Ile44Met) c.48C>G (p.Ile16Met) c.99C>G (p.Ile33Met) n.246C>G | |
2 | g.28776930C>T | CA425499357 | PPP1CB | c.132C>T (p.Ile44=) c.48C>T (p.Ile16=) c.99C>T (p.Ile33=) n.246C>T | dbSNP |
2 | g.28776931T>A | CA346581008 | PPP1CB | c.133T>A (p.Phe45Ile) c.49T>A (p.Phe17Ile) c.100T>A (p.Phe34Ile) n.247T>A | |
2 | g.28776931T>C | CA346581009 | PPP1CB | c.133T>C (p.Phe45Leu) c.49T>C (p.Phe17Leu) c.100T>C (p.Phe34Leu) n.247T>C | |
2 | g.28776931T>G | CA346581011 | PPP1CB | c.133T>G (p.Phe45Val) c.49T>G (p.Phe17Val) c.100T>G (p.Phe34Val) n.247T>G | |
2 | g.28776932T>A | CA346581014 | PPP1CB | c.134T>A (p.Phe45Tyr) c.50T>A (p.Phe17Tyr) c.101T>A (p.Phe34Tyr) n.248T>A | |
2 | g.28776932T>C | CA346581016 | PPP1CB | c.134T>C (p.Phe45Ser) c.50T>C (p.Phe17Ser) c.101T>C (p.Phe34Ser) n.248T>C | |
2 | g.28776932T>G | CA346581021 | PPP1CB | c.134T>G (p.Phe45Cys) c.50T>G (p.Phe17Cys) c.101T>G (p.Phe34Cys) n.248T>G | |
2 | g.28776933T>A | CA346581023 | PPP1CB | c.135T>A (p.Phe45Leu) c.51T>A (p.Phe17Leu) c.102T>A (p.Phe34Leu) n.249T>A | |
2 | g.28776933T>C | CA425499369 | PPP1CB | c.135T>C (p.Phe45=) c.51T>C (p.Phe17=) c.102T>C (p.Phe34=) n.249T>C | |
2 | g.28776933T>G | CA346581027 | PPP1CB | c.135T>G (p.Phe45Leu) c.51T>G (p.Phe17Leu) c.102T>G (p.Phe34Leu) n.249T>G | |
2 | g.28776934C>A | CA346581036 | PPP1CB | c.136C>A (p.Leu46Ile) c.52C>A (p.Leu18Ile) c.103C>A (p.Leu35Ile) n.250C>A | |
2 | g.28776934C>G | CA346581039 | PPP1CB | c.136C>G (p.Leu46Val) c.52C>G (p.Leu18Val) c.103C>G (p.Leu35Val) n.250C>G | |
2 | g.28776934C>T | CA346581041 | PPP1CB | c.136C>T (p.Leu46Phe) c.52C>T (p.Leu18Phe) c.103C>T (p.Leu35Phe) n.250C>T | ClinVar |
2 | g.28776935T>A | CA346581048 | PPP1CB | c.137T>A (p.Leu46His) c.53T>A (p.Leu18His) c.104T>A (p.Leu35His) n.251T>A | |
2 | g.28776935T>C | CA346581046 | PPP1CB | c.137T>C (p.Leu46Pro) c.53T>C (p.Leu18Pro) c.104T>C (p.Leu35Pro) n.251T>C | |
2 | g.28776935T>G | CA346581043 | PPP1CB | c.137T>G (p.Leu46Arg) c.53T>G (p.Leu18Arg) c.104T>G (p.Leu35Arg) n.251T>G | |
2 | g.28776936C>A | CA425499378 | PPP1CB | c.138C>A (p.Leu46=) c.54C>A (p.Leu18=) c.105C>A (p.Leu35=) n.252C>A | COSMIC |
2 | g.28776936C= | CA1240875883 | PPP1CB | c.138C= (p.Leu46=) c.54C= (p.Leu18=) c.105C= (p.Leu35=) n.252C= | |
2 | g.28776936C>G | CA425499381 | PPP1CB | c.138C>G (p.Leu46=) c.54C>G (p.Leu18=) c.105C>G (p.Leu35=) n.252C>G | gnomAD v4 |
2 | g.28776936C>T | CA425499383 | PPP1CB | c.138C>T (p.Leu46=) c.54C>T (p.Leu18=) c.105C>T (p.Leu35=) n.252C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.28776937A>C | CA346581050 | PPP1CB | c.139A>C (p.Ser47Arg) c.55A>C (p.Ser19Arg) c.106A>C (p.Ser36Arg) n.253A>C | |
2 | g.28776937A>G | CA346581052 | PPP1CB | c.139A>G (p.Ser47Gly) c.55A>G (p.Ser19Gly) c.106A>G (p.Ser36Gly) n.253A>G | ClinVar |
2 | g.28776937A>T | CA346581053 | PPP1CB | c.139A>T (p.Ser47Cys) c.55A>T (p.Ser19Cys) c.106A>T (p.Ser36Cys) n.253A>T | |
2 | g.28776938G>A | CA346581056 | PPP1CB | c.140G>A (p.Ser47Asn) c.56G>A (p.Ser19Asn) c.107G>A (p.Ser36Asn) n.254G>A | |
2 | g.28776938G>C | CA346581058 | PPP1CB | c.140G>C (p.Ser47Thr) c.56G>C (p.Ser19Thr) c.107G>C (p.Ser36Thr) n.254G>C | |
2 | g.28776938G>T | CA346581060 | PPP1CB | c.140G>T (p.Ser47Ile) c.56G>T (p.Ser19Ile) c.107G>T (p.Ser36Ile) n.254G>T | COSMIC |
2 | g.28776939C>A | CA346581065 | PPP1CB | c.141C>A (p.Ser47Arg) c.57C>A (p.Ser19Arg) c.108C>A (p.Ser36Arg) n.255C>A | ClinVar dbSNP |
2 | g.28776939C>G | CA346581066 | PPP1CB | c.141C>G (p.Ser47Arg) c.57C>G (p.Ser19Arg) c.108C>G (p.Ser36Arg) n.255C>G | |
2 | g.28776939C>T | CA425499393 | PPP1CB | c.141C>T (p.Ser47=) c.57C>T (p.Ser19=) c.108C>T (p.Ser36=) n.255C>T | |
2 | g.28776940C>A | CA346581068 | PPP1CB | c.142C>A (p.Gln48Lys) c.58C>A (p.Gln20Lys) c.109C>A (p.Gln37Lys) n.256C>A | |
2 | g.28776940C>G | CA346581071 | PPP1CB | c.142C>G (p.Gln48Glu) c.58C>G (p.Gln20Glu) c.109C>G (p.Gln37Glu) n.256C>G | ClinVar |
2 | g.28776940C>T | CA346581074 | PPP1CB | c.142C>T (p.Gln48Ter) c.58C>T (p.Gln20Ter) c.109C>T (p.Gln37Ter) n.256C>T | |
2 | g.28776941A>C | CA346581077 | PPP1CB | c.143A>C (p.Gln48Pro) c.59A>C (p.Gln20Pro) c.110A>C (p.Gln37Pro) n.257A>C | |
2 | g.28776941A>G | CA346581079 | PPP1CB | c.143A>G (p.Gln48Arg) c.59A>G (p.Gln20Arg) c.110A>G (p.Gln37Arg) n.257A>G | |
2 | g.28776941A>T | CA346581082 | PPP1CB | c.143A>T (p.Gln48Leu) c.59A>T (p.Gln20Leu) c.110A>T (p.Gln37Leu) n.257A>T | |
2 | g.28776942G>A | CA425499405 | PPP1CB | c.144G>A (p.Gln48=) c.60G>A (p.Gln20=) c.111G>A (p.Gln37=) n.258G>A | |
2 | g.28776942G>C | CA346581084 | PPP1CB | c.144G>C (p.Gln48His) c.60G>C (p.Gln20His) c.111G>C (p.Gln37His) n.258G>C | |
2 | g.28776942G>T | CA346581087 | PPP1CB | c.144G>T (p.Gln48His) c.60G>T (p.Gln20His) c.111G>T (p.Gln37His) n.258G>T | |
2 | g.28776943C>A | CA346581091 | PPP1CB | c.145C>A (p.Pro49Thr) c.61C>A (p.Pro21Thr) c.112C>A (p.Pro38Thr) n.259C>A | ClinVar |
2 | g.28776943C>G | CA346581094 | PPP1CB | c.145C>G (p.Pro49Ala) c.61C>G (p.Pro21Ala) c.112C>G (p.Pro38Ala) n.259C>G | gnomAD v4 |
2 | g.28776943C>T | CA346581095 | PPP1CB | c.145C>T (p.Pro49Ser) c.61C>T (p.Pro21Ser) c.112C>T (p.Pro38Ser) n.259C>T | |
2 | g.28776944C>A | CA346581097 | PPP1CB | c.146C>A (p.Pro49His) c.62C>A (p.Pro21His) c.113C>A (p.Pro38His) n.260C>A | |
2 | g.28776944C= | CA1240875888 | PPP1CB | c.146C= (p.Pro49=) c.62C= (p.Pro21=) c.113C= (p.Pro38=) n.260C= | |
2 | g.28776944C>G | CA10586682 | PPP1CB | c.146C>G (p.Pro49Arg) c.62C>G (p.Pro21Arg) c.113C>G (p.Pro38Arg) n.260C>G | ClinVar dbSNP |
2 | g.28776944C>T | CA346581099 | PPP1CB | c.146C>T (p.Pro49Leu) c.62C>T (p.Pro21Leu) c.113C>T (p.Pro38Leu) n.260C>T | |
2 | g.28776945T>A | CA425499418 | PPP1CB | c.147T>A (p.Pro49=) c.63T>A (p.Pro21=) c.114T>A (p.Pro38=) n.261T>A | |
2 | g.28776945T>C | CA425499420 | PPP1CB | c.147T>C (p.Pro49=) c.63T>C (p.Pro21=) c.114T>C (p.Pro38=) n.261T>C | gnomAD v4 |
2 | g.28776945T>G | CA425499423 | PPP1CB | c.147T>G (p.Pro49=) c.63T>G (p.Pro21=) c.114T>G (p.Pro38=) n.261T>G | |
2 | g.28776946A= | CA1240875893 | PPP1CB | c.148A= (p.Ile50=) c.64A= (p.Ile22=) c.115A= (p.Ile39=) n.262A= | |
2 | g.28776946A>C | CA346581101 | PPP1CB | c.148A>C (p.Ile50Leu) c.64A>C (p.Ile22Leu) c.115A>C (p.Ile39Leu) n.262A>C | |
2 | g.28776946A>G | CA1589167 | PPP1CB | c.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 |
2 | g.28776946A>T | CA346581102 | PPP1CB | c.148A>T (p.Ile50Phe) c.64A>T (p.Ile22Phe) c.115A>T (p.Ile39Phe) n.262A>T | |
2 | g.28776947T>A | CA346581103 | PPP1CB | c.149T>A (p.Ile50Asn) c.65T>A (p.Ile22Asn) c.116T>A (p.Ile39Asn) n.263T>A | |
2 | g.28776947T>C | CA346581104 | PPP1CB | c.149T>C (p.Ile50Thr) c.65T>C (p.Ile22Thr) c.116T>C (p.Ile39Thr) n.263T>C | |
2 | g.28776947T>G | CA346581105 | PPP1CB | c.149T>G (p.Ile50Ser) c.65T>G (p.Ile22Ser) c.116T>G (p.Ile39Ser) n.263T>G | |
2 | g.28776948T>A | CA425499433 | PPP1CB | c.150T>A (p.Ile50=) c.66T>A (p.Ile22=) c.117T>A (p.Ile39=) n.264T>A | |
2 | g.28776948T>C | CA425499436 | PPP1CB | c.150T>C (p.Ile50=) c.66T>C (p.Ile22=) c.117T>C (p.Ile39=) n.264T>C | |
2 | g.28776948T>G | CA346581107 | PPP1CB | c.150T>G (p.Ile50Met) c.66T>G (p.Ile22Met) c.117T>G (p.Ile39Met) n.264T>G | |
2 | g.28776949C>A | CA346581114 | PPP1CB | c.151C>A (p.Leu51Ile) c.67C>A (p.Leu23Ile) c.118C>A (p.Leu40Ile) n.265C>A | |
2 | g.28776949C>G | CA346581109 | PPP1CB | c.151C>G (p.Leu51Val) c.67C>G (p.Leu23Val) c.118C>G (p.Leu40Val) n.265C>G | |
2 | g.28776949C>T | CA346581110 | PPP1CB | c.151C>T (p.Leu51Phe) c.67C>T (p.Leu23Phe) c.118C>T (p.Leu40Phe) n.265C>T | |
2 | g.28776950T>A | CA346581117 | PPP1CB | c.152T>A (p.Leu51His) c.68T>A (p.Leu23His) c.119T>A (p.Leu40His) n.266T>A | |
2 | g.28776950T>C | CA346581119 | PPP1CB | c.152T>C (p.Leu51Pro) c.68T>C (p.Leu23Pro) c.119T>C (p.Leu40Pro) n.266T>C | |
2 | g.28776950T>G | CA346581121 | PPP1CB | c.152T>G (p.Leu51Arg) c.68T>G (p.Leu23Arg) c.119T>G (p.Leu40Arg) n.266T>G | |
2 | g.28776951T>A | CA425499446 | PPP1CB | c.153T>A (p.Leu51=) c.69T>A (p.Leu23=) c.120T>A (p.Leu40=) n.267T>A | |
2 | g.28776951T>C | CA425499448 | PPP1CB | c.153T>C (p.Leu51=) c.69T>C (p.Leu23=) c.120T>C (p.Leu40=) n.267T>C | |
2 | g.28776951T>G | CA425499450 | PPP1CB | c.153T>G (p.Leu51=) c.69T>G (p.Leu23=) c.120T>G (p.Leu40=) n.267T>G | ClinVar gnomAD v4 |
2 | g.28776952T>A | CA346581123 | PPP1CB | c.154T>A (p.Leu52Met) c.70T>A (p.Leu24Met) c.121T>A (p.Leu41Met) n.268T>A | |
2 | g.28776952T>C | CA425499454 | PPP1CB | c.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 |
2 | g.28776952T>G | CA346581124 | PPP1CB | c.154T>G (p.Leu52Val) c.70T>G (p.Leu24Val) c.121T>G (p.Leu41Val) n.268T>G | |
2 | g.28776952T= | CA1240875897 | PPP1CB | c.154T= (p.Leu52=) c.70T= (p.Leu24=) c.121T= (p.Leu41=) n.268T= | |
2 | g.28776953T>A | CA346581129 | PPP1CB | c.155T>A (p.Leu52Ter) c.71T>A (p.Leu24Ter) c.122T>A (p.Leu41Ter) n.269T>A | |
2 | g.28776953T>C | CA346581126 | PPP1CB | c.155T>C (p.Leu52Ser) c.71T>C (p.Leu24Ser) c.122T>C (p.Leu41Ser) n.269T>C | |
2 | g.28776953T>G | CA346581127 | PPP1CB | c.155T>G (p.Leu52Trp) c.71T>G (p.Leu24Trp) c.122T>G (p.Leu41Trp) n.269T>G | |
2 | g.28776954G>A | CA425499461 | PPP1CB | c.156G>A (p.Leu52=) c.72G>A (p.Leu24=) c.123G>A (p.Leu41=) n.270G>A | ClinVar |
2 | g.28776954G>C | CA346581131 | PPP1CB | c.156G>C (p.Leu52Phe) c.72G>C (p.Leu24Phe) c.123G>C (p.Leu41Phe) n.270G>C | |
2 | g.28776954G>T | CA346581133 | PPP1CB | c.156G>T (p.Leu52Phe) c.72G>T (p.Leu24Phe) c.123G>T (p.Leu41Phe) n.270G>T | |
2 | g.28776955G>A | CA346581135 | PPP1CB | c.157G>A (p.Glu53Lys) c.73G>A (p.Glu25Lys) c.124G>A (p.Glu42Lys) n.271G>A | COSMIC |
2 | g.28776955G>C | CA346581137 | PPP1CB | c.157G>C (p.Glu53Gln) c.73G>C (p.Glu25Gln) c.124G>C (p.Glu42Gln) n.271G>C | |
2 | g.28776955G>T | CA346581138 | PPP1CB | c.157G>T (p.Glu53Ter) c.73G>T (p.Glu25Ter) c.124G>T (p.Glu42Ter) n.271G>T | |
2 | g.28776956A>C | CA346581140 | PPP1CB | c.158A>C (p.Glu53Ala) c.74A>C (p.Glu25Ala) c.125A>C (p.Glu42Ala) n.272A>C | |
2 | g.28776956A>G | CA346581143 | PPP1CB | c.158A>G (p.Glu53Gly) c.74A>G (p.Glu25Gly) c.125A>G (p.Glu42Gly) n.272A>G | |
2 | g.28776956A>T | CA346581142 | PPP1CB | c.158A>T (p.Glu53Val) c.74A>T (p.Glu25Val) c.125A>T (p.Glu42Val) n.272A>T | |
2 | g.28776957A>C | CA346581145 | PPP1CB | c.159A>C (p.Glu53Asp) c.75A>C (p.Glu25Asp) c.126A>C (p.Glu42Asp) n.273A>C | |
2 | g.28776957A>G | CA425499476 | PPP1CB | c.159A>G (p.Glu53=) c.75A>G (p.Glu25=) c.126A>G (p.Glu42=) n.273A>G | |
2 | g.28776957A>T | CA346581146 | PPP1CB | c.159A>T (p.Glu53Asp) c.75A>T (p.Glu25Asp) c.126A>T (p.Glu42Asp) n.273A>T | |
2 | g.28776958T>A | CA346581148 | PPP1CB | c.160T>A (p.Leu54Met) c.76T>A (p.Leu26Met) c.127T>A (p.Leu43Met) n.274T>A | |
2 | g.28776958T>C | CA425499481 | PPP1CB | c.160T>C (p.Leu54=) c.76T>C (p.Leu26=) c.127T>C (p.Leu43=) n.274T>C | |
2 | g.28776958T>G | CA346581150 | PPP1CB | c.160T>G (p.Leu54Val) c.76T>G (p.Leu26Val) c.127T>G (p.Leu43Val) n.274T>G | COSMIC |
2 | g.28776959T>A | CA346581152 | PPP1CB | c.161T>A (p.Leu54Ter) c.77T>A (p.Leu26Ter) c.128T>A (p.Leu43Ter) n.275T>A | |
2 | g.28776959T>C | CA346581154 | PPP1CB | c.161T>C (p.Leu54Ser) c.77T>C (p.Leu26Ser) c.128T>C (p.Leu43Ser) n.275T>C | |
2 | g.28776959T>G | CA346581156 | PPP1CB | c.161T>G (p.Leu54Trp) c.77T>G (p.Leu26Trp) c.128T>G (p.Leu43Trp) n.275T>G | |
2 | g.28776960G>A | CA425499489 | PPP1CB | c.162G>A (p.Leu54=) c.78G>A (p.Leu26=) c.129G>A (p.Leu43=) n.276G>A | |
2 | g.28776960G>C | CA346581158 | PPP1CB | c.162G>C (p.Leu54Phe) c.78G>C (p.Leu26Phe) c.129G>C (p.Leu43Phe) n.276G>C | |
2 | g.28776960G>T | CA346581160 | PPP1CB | c.162G>T (p.Leu54Phe) c.78G>T (p.Leu26Phe) c.129G>T (p.Leu43Phe) n.276G>T | |
2 | g.28776961G>A | CA346581162 | PPP1CB | c.163G>A (p.Glu55Lys) c.79G>A (p.Glu27Lys) c.130G>A (p.Glu44Lys) n.277G>A | |
2 | g.28776961G>C | CA346581163 | PPP1CB | c.163G>C (p.Glu55Gln) c.79G>C (p.Glu27Gln) c.130G>C (p.Glu44Gln) n.277G>C | |
2 | g.28776961G>T | CA346581164 | PPP1CB | c.163G>T (p.Glu55Ter) c.79G>T (p.Glu27Ter) c.130G>T (p.Glu44Ter) n.277G>T | |
2 | g.28776962A>C | CA346581165 | PPP1CB | c.164A>C (p.Glu55Ala) c.80A>C (p.Glu27Ala) c.131A>C (p.Glu44Ala) n.278A>C | |
2 | g.28776962A>G | CA346581167 | PPP1CB | c.164A>G (p.Glu55Gly) c.80A>G (p.Glu27Gly) c.131A>G (p.Glu44Gly) n.278A>G | |
2 | g.28776962A>T | CA346581166 | PPP1CB | c.164A>T (p.Glu55Val) c.80A>T (p.Glu27Val) c.131A>T (p.Glu44Val) n.278A>T | |
2 | g.28776963A>C | CA346581168 | PPP1CB | c.165A>C (p.Glu55Asp) c.81A>C (p.Glu27Asp) c.132A>C (p.Glu44Asp) n.279A>C | |
2 | g.28776963A>G | CA425499503 | PPP1CB | c.165A>G (p.Glu55=) c.81A>G (p.Glu27=) c.132A>G (p.Glu44=) n.279A>G | gnomAD v4 |
2 | g.28776963A>T | CA346581169 | PPP1CB | c.165A>T (p.Glu55Asp) c.81A>T (p.Glu27Asp) c.132A>T (p.Glu44Asp) n.279A>T | gnomAD v4 |
2 | g.28776964G>A | CA346581170 | PPP1CB | c.166G>A (p.Ala56Thr) c.82G>A (p.Ala28Thr) c.133G>A (p.Ala45Thr) n.280G>A | |
2 | g.28776964G>C | CA346581171 | PPP1CB | c.166G>C (p.Ala56Pro) c.82G>C (p.Ala28Pro) c.133G>C (p.Ala45Pro) n.280G>C | ClinVar dbSNP |
2 | g.28776964G= | CA1240875899 | PPP1CB | c.166G= (p.Ala56=) c.82G= (p.Ala28=) c.133G= (p.Ala45=) n.280G= | |
2 | g.28776964G>T | CA346581173 | PPP1CB | c.166G>T (p.Ala56Ser) c.82G>T (p.Ala28Ser) c.133G>T (p.Ala45Ser) n.280G>T | |
2 | g.28776965C>A | CA346581175 | PPP1CB | c.167C>A (p.Ala56Glu) c.83C>A (p.Ala28Glu) c.134C>A (p.Ala45Glu) n.281C>A | |
2 | g.28776965C>G | CA346581176 | PPP1CB | c.167C>G (p.Ala56Gly) c.83C>G (p.Ala28Gly) c.134C>G (p.Ala45Gly) n.281C>G | |
2 | g.28776965C>T | CA346581177 | PPP1CB | c.167C>T (p.Ala56Val) c.83C>T (p.Ala28Val) c.134C>T (p.Ala45Val) n.281C>T | |
2 | g.28776966A>C | CA425499515 | PPP1CB | c.168A>C (p.Ala56=) c.84A>C (p.Ala28=) c.135A>C (p.Ala45=) n.282A>C | |
2 | g.28776966A>G | CA425499517 | PPP1CB | c.168A>G (p.Ala56=) c.84A>G (p.Ala28=) c.135A>G (p.Ala45=) n.282A>G | gnomAD v4 |
2 | g.28776966A>T | CA425499520 | PPP1CB | c.168A>T (p.Ala56=) c.84A>T (p.Ala28=) c.135A>T (p.Ala45=) n.282A>T | |
2 | g.28776967C>A | CA346581178 | PPP1CB | c.169C>A (p.Pro57Thr) c.85C>A (p.Pro29Thr) c.136C>A (p.Pro46Thr) n.283C>A | |
2 | g.28776967C= | CA1240875904 | PPP1CB | c.169C= (p.Pro57=) c.85C= (p.Pro29=) c.136C= (p.Pro46=) n.283C= | |
2 | g.28776967C>G | CA346581179 | PPP1CB | c.169C>G (p.Pro57Ala) c.85C>G (p.Pro29Ala) c.136C>G (p.Pro46Ala) n.283C>G | gnomAD v4 |
2 | g.28776967C>T | CA346581181 | PPP1CB | c.169C>T (p.Pro57Ser) c.85C>T (p.Pro29Ser) c.136C>T (p.Pro46Ser) n.283C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.28776968C>A | CA346581185 | PPP1CB | c.170C>A (p.Pro57Gln) c.86C>A (p.Pro29Gln) c.137C>A (p.Pro46Gln) n.284C>A | |
2 | g.28776968C>G | CA346581184 | PPP1CB | c.170C>G (p.Pro57Arg) c.86C>G (p.Pro29Arg) c.137C>G (p.Pro46Arg) n.284C>G | |
2 | g.28776968C>T | CA346581183 | PPP1CB | c.170C>T (p.Pro57Leu) c.86C>T (p.Pro29Leu) c.137C>T (p.Pro46Leu) n.284C>T | |
2 | g.28776969G>A | CA1589168 | PPP1CB | c.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 |
2 | g.28776969G>C | CA425499533 | PPP1CB | c.171G>C (p.Pro57=) c.87G>C (p.Pro29=) c.138G>C (p.Pro46=) n.285G>C | |
2 | g.28776969G= | CA1240875910 | PPP1CB | c.171G= (p.Pro57=) c.87G= (p.Pro29=) c.138G= (p.Pro46=) n.285G= | |
2 | g.28776969G>T | CA425499528 | PPP1CB | c.171G>T (p.Pro57=) c.87G>T (p.Pro29=) c.138G>T (p.Pro46=) n.285G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.28776970C>A | CA346581189 | PPP1CB | c.172C>A (p.Leu58Met) c.88C>A (p.Leu30Met) c.139C>A (p.Leu47Met) n.286C>A | |
2 | g.28776970C>G | CA346581190 | PPP1CB | c.172C>G (p.Leu58Val) c.88C>G (p.Leu30Val) c.139C>G (p.Leu47Val) n.286C>G | |
2 | g.28776970C>T | CA425499536 | PPP1CB | c.172C>T (p.Leu58=) c.88C>T (p.Leu30=) c.139C>T (p.Leu47=) n.286C>T | |
2 | g.28776971T>A | CA346581192 | PPP1CB | c.173T>A (p.Leu58Gln) c.89T>A (p.Leu30Gln) c.140T>A (p.Leu47Gln) n.287T>A | |
2 | g.28776971T>C | CA346581194 | PPP1CB | c.173T>C (p.Leu58Pro) c.89T>C (p.Leu30Pro) c.140T>C (p.Leu47Pro) n.287T>C | |
2 | g.28776971T>G | CA346581196 | PPP1CB | c.173T>G (p.Leu58Arg) c.89T>G (p.Leu30Arg) c.140T>G (p.Leu47Arg) n.287T>G | |
2 | g.28776972G>A | CA425499542 | PPP1CB | c.174G>A (p.Leu58=) c.90G>A (p.Leu30=) c.141G>A (p.Leu47=) n.288G>A | gnomAD v4 |
2 | g.28776972G>C | CA425499544 | PPP1CB | c.174G>C (p.Leu58=) c.90G>C (p.Leu30=) c.141G>C (p.Leu47=) n.288G>C | |
2 | g.28776972G>T | CA425499546 | PPP1CB | c.174G>T (p.Leu58=) c.90G>T (p.Leu30=) c.141G>T (p.Leu47=) n.288G>T | |
2 | g.28776973A>C | CA346581197 | PPP1CB | c.175A>C (p.Lys59Gln) c.91A>C (p.Lys31Gln) c.142A>C (p.Lys48Gln) n.289A>C | |
2 | g.28776973A>G | CA346581199 | PPP1CB | c.175A>G (p.Lys59Glu) c.91A>G (p.Lys31Glu) c.142A>G (p.Lys48Glu) n.289A>G | |
2 | g.28776973A>T | CA346581201 | PPP1CB | c.175A>T (p.Lys59Ter) c.91A>T (p.Lys31Ter) c.142A>T (p.Lys48Ter) n.289A>T | |
2 | g.28776974A= | CA1240875911 | PPP1CB | c.176A= (p.Lys59=) c.92A= (p.Lys31=) c.143A= (p.Lys48=) n.290A= | |
2 | g.28776974A>C | CA346581203 | PPP1CB | c.176A>C (p.Lys59Thr) c.92A>C (p.Lys31Thr) c.143A>C (p.Lys48Thr) n.290A>C | |
2 | g.28776974A>G | CA346581204 | PPP1CB | c.176A>G (p.Lys59Arg) c.92A>G (p.Lys31Arg) c.143A>G (p.Lys48Arg) n.290A>G | dbSNP |
2 | g.28776974A>T | CA346581206 | PPP1CB | c.176A>T (p.Lys59Ile) c.92A>T (p.Lys31Ile) c.143A>T (p.Lys48Ile) n.290A>T | |
2 | g.28776975A= | CA1240875914 | PPP1CB | c.177A= (p.Lys59=) c.93A= (p.Lys31=) c.144A= (p.Lys48=) n.291A= | |
2 | g.28776975A>C | CA346581207 | PPP1CB | c.177A>C (p.Lys59Asn) c.93A>C (p.Lys31Asn) c.144A>C (p.Lys48Asn) n.291A>C | |
2 | g.28776975A>G | CA1589169 | PPP1CB | c.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 |
2 | g.28776975A>T | CA346581209 | PPP1CB | c.177A>T (p.Lys59Asn) c.93A>T (p.Lys31Asn) c.144A>T (p.Lys48Asn) n.291A>T | |
2 | g.28776976A>C | CA346581212 | PPP1CB | c.178A>C (p.Ile60Leu) c.94A>C (p.Ile32Leu) c.145A>C (p.Ile49Leu) n.292A>C | |
2 | g.28776976A>G | CA346581214 | PPP1CB | c.178A>G (p.Ile60Val) c.94A>G (p.Ile32Val) c.145A>G (p.Ile49Val) n.292A>G | |
2 | g.28776976A>T | CA346581213 | PPP1CB | c.178A>T (p.Ile60Phe) c.94A>T (p.Ile32Phe) c.145A>T (p.Ile49Phe) n.292A>T | |
2 | g.28776977T>A | CA346581215 | PPP1CB | c.179T>A (p.Ile60Asn) c.95T>A (p.Ile32Asn) c.146T>A (p.Ile49Asn) n.293T>A | |
2 | g.28776977T>C | CA346581221 | PPP1CB | c.179T>C (p.Ile60Thr) c.95T>C (p.Ile32Thr) c.146T>C (p.Ile49Thr) n.293T>C | |
2 | g.28776977T>G | CA346581219 | PPP1CB | c.179T>G (p.Ile60Ser) c.95T>G (p.Ile32Ser) c.146T>G (p.Ile49Ser) n.293T>G | |
2 | g.28776978T>A | CA425499574 | PPP1CB | c.180T>A (p.Ile60=) c.96T>A (p.Ile32=) c.147T>A (p.Ile49=) n.294T>A | |
2 | g.28776978T>C | CA425499575 | PPP1CB | c.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 |
2 | g.28776978T>G | CA346581222 | PPP1CB | c.180T>G (p.Ile60Met) c.96T>G (p.Ile32Met) c.147T>G (p.Ile49Met) n.294T>G | |
2 | g.28776978T= | CA1240875917 | PPP1CB | c.180T= (p.Ile60=) c.96T= (p.Ile32=) c.147T= (p.Ile49=) n.294T= | |
2 | g.28776979T>A | CA346581230 | PPP1CB | c.181T>A (p.Cys61Ser) c.97T>A (p.Cys33Ser) c.148T>A (p.Cys50Ser) n.295T>A | |
2 | g.28776979T>C | CA346581224 | PPP1CB | c.181T>C (p.Cys61Arg) c.97T>C (p.Cys33Arg) c.148T>C (p.Cys50Arg) n.295T>C | |
2 | g.28776979T>G | CA346581226 | PPP1CB | c.181T>G (p.Cys61Gly) c.97T>G (p.Cys33Gly) c.148T>G (p.Cys50Gly) n.295T>G | |
2 | g.28776980G>A | CA346581232 | PPP1CB | c.182G>A (p.Cys61Tyr) c.98G>A (p.Cys33Tyr) c.149G>A (p.Cys50Tyr) n.296G>A | |
2 | g.28776980G>C | CA346581234 | PPP1CB | c.182G>C (p.Cys61Ser) c.98G>C (p.Cys33Ser) c.149G>C (p.Cys50Ser) n.296G>C | |
2 | g.28776980G>T | CA346581235 | PPP1CB | c.182G>T (p.Cys61Phe) c.98G>T (p.Cys33Phe) c.149G>T (p.Cys50Phe) n.296G>T | |
2 | g.28776981T>A | CA346581237 | PPP1CB | c.183T>A (p.Cys61Ter) c.99T>A (p.Cys33Ter) c.150T>A (p.Cys50Ter) n.297T>A | |
2 | g.28776981T>C | CA425499591 | PPP1CB | c.183T>C (p.Cys61=) c.99T>C (p.Cys33=) c.150T>C (p.Cys50=) n.297T>C | |
2 | g.28776981T>G | CA346581239 | PPP1CB | c.183T>G (p.Cys61Trp) c.99T>G (p.Cys33Trp) c.150T>G (p.Cys50Trp) n.297T>G | |
2 | g.28776982G>A | CA346581241 | PPP1CB | c.184G>A (p.Gly62Arg) c.100G>A (p.Gly34Arg) c.151G>A (p.Gly51Arg) n.298G>A | |
2 | g.28776982G>C | CA346581242 | PPP1CB | c.184G>C (p.Gly62Arg) c.100G>C (p.Gly34Arg) c.151G>C (p.Gly51Arg) n.298G>C | |
2 | g.28776982G>T | CA346581243 | PPP1CB | c.184G>T (p.Gly62Ter) c.100G>T (p.Gly34Ter) c.151G>T (p.Gly51Ter) n.298G>T | |
2 | g.28776983G>A | CA346581246 | PPP1CB | c.184+1G>A (n.184+1G>A) c.100+1G>A (n.100+1G>A) c.151+1G>A (n.151+1G>A) n.299G>A | |
2 | g.28776983G>C | CA346581247 | PPP1CB | c.184+1G>C (n.184+1G>C) c.100+1G>C (n.100+1G>C) c.151+1G>C (n.151+1G>C) n.299G>C | |
2 | g.28776983G>T | CA346581249 | PPP1CB | c.184+1G>T (n.184+1G>T) c.100+1G>T (n.100+1G>T) c.151+1G>T (n.151+1G>T) n.299G>T | |
2 | g.28776984T>A | CA346581256 | PPP1CB | c.184+2T>A (n.184+2T>A) c.100+2T>A (n.100+2T>A) c.151+2T>A (n.151+2T>A) n.300T>A | |
2 | g.28776984T>C | CA346581259 | PPP1CB | c.184+2T>C (n.184+2T>C) c.100+2T>C (n.100+2T>C) c.151+2T>C (n.151+2T>C) n.300T>C | COSMIC |
2 | g.28776984T>G | CA346581258 | PPP1CB | c.184+2T>G (n.184+2T>G) c.100+2T>G (n.100+2T>G) c.151+2T>G (n.151+2T>G) n.300T>G |