Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.54042673A>C | CA413249782 | PHF8 | c.56T>G (p.Phe19Cys) c.164T>G (p.Phe55Cys) n.44T>G | |
X | g.54042673A>G | CA413249784 | PHF8 | c.56T>C (p.Phe19Ser) c.164T>C (p.Phe55Ser) n.44T>C | |
X | g.54042673A>T | CA413249783 | PHF8 | c.56T>A (p.Phe19Tyr) c.164T>A (p.Phe55Tyr) n.44T>A | |
X | g.54042674A>C | CA413249785 | PHF8 | c.55T>G (p.Phe19Val) c.163T>G (p.Phe55Val) n.43T>G | |
X | g.54042674A>G | CA413249787 | PHF8 | c.55T>C (p.Phe19Leu) c.163T>C (p.Phe55Leu) n.43T>C | |
X | g.54042674A>T | CA413249786 | PHF8 | c.55T>A (p.Phe19Ile) c.163T>A (p.Phe55Ile) n.43T>A | |
X | g.54042675G>A | CA10423691 | PHF8 | c.54C>T (p.Arg18=) c.162C>T (p.Arg54=) n.42C>T | dbSNP ExAC gnomAD v2 |
X | g.54042675G>C | CA516566191 | PHF8 | c.54C>G (p.Arg18=) c.162C>G (p.Arg54=) n.42C>G | |
X | g.54042675G= | CA2430051096 | PHF8 | c.54C= (p.Arg18=) c.162C= (p.Arg54=) n.42C= | |
X | g.54042675G>T | CA516566192 | PHF8 | c.54C>A (p.Arg18=) c.162C>A (p.Arg54=) n.42C>A | |
X | g.54042675dup | CA2843604415 | PHF8 | c.54dup (p.Phe19LeufsTer6) c.162dup (p.Phe55LeufsTer6) n.42dup | |
X | g.54042676C>A | CA413249788 | PHF8 | c.53G>T (p.Arg18Leu) c.161G>T (p.Arg54Leu) n.41G>T | |
X | g.54042676C>G | CA413249789 | PHF8 | c.53G>C (p.Arg18Pro) c.161G>C (p.Arg54Pro) n.41G>C | |
X | g.54042676C>T | CA413249790 | PHF8 | c.53G>A (p.Arg18His) c.161G>A (p.Arg54His) n.41G>A | |
X | g.54042677G>A | CA413249791 | PHF8 | c.52C>T (p.Arg18Cys) c.160C>T (p.Arg54Cys) n.40C>T | |
X | g.54042677G>C | CA413249792 | PHF8 | c.52C>G (p.Arg18Gly) c.160C>G (p.Arg54Gly) n.40C>G | |
X | g.54042677G>T | CA413249793 | PHF8 | c.52C>A (p.Arg18Ser) c.160C>A (p.Arg54Ser) n.40C>A | |
X | g.54042678G>A | CA516566195 | PHF8 | c.51C>T (p.Thr17=) c.159C>T (p.Thr53=) n.39C>T | dbSNP |
X | g.54042678G>C | CA516566193 | PHF8 | c.51C>G (p.Thr17=) c.159C>G (p.Thr53=) n.39C>G | |
X | g.54042678G= | CA2430051097 | PHF8 | c.51C= (p.Thr17=) c.159C= (p.Thr53=) n.39C= | |
X | g.54042678G>T | CA516566194 | PHF8 | c.51C>A (p.Thr17=) c.159C>A (p.Thr53=) n.39C>A | COSMIC COSMIC COSMIC COSMIC |
X | g.54042679G>A | CA413249794 | PHF8 | c.50C>T (p.Thr17Ile) c.158C>T (p.Thr53Ile) n.38C>T | |
X | g.54042679G>C | CA413249795 | PHF8 | c.50C>G (p.Thr17Ser) c.158C>G (p.Thr53Ser) n.38C>G | |
X | g.54042679G>T | CA413249796 | PHF8 | c.50C>A (p.Thr17Asn) c.158C>A (p.Thr53Asn) n.38C>A | |
X | g.54042680T>A | CA413249799 | PHF8 | c.49A>T (p.Thr17Ser) c.157A>T (p.Thr53Ser) n.37A>T | |
X | g.54042680T>C | CA413249798 | PHF8 | c.49A>G (p.Thr17Ala) c.157A>G (p.Thr53Ala) n.37A>G | |
X | g.54042680T>G | CA413249797 | PHF8 | c.49A>C (p.Thr17Pro) c.157A>C (p.Thr53Pro) n.37A>C | |
X | g.54042681C>A | CA516566196 | PHF8 | c.48G>T (p.Val16=) c.156G>T (p.Val52=) n.36G>T | |
X | g.54042681C>G | CA516566197 | PHF8 | c.48G>C (p.Val16=) c.156G>C (p.Val52=) n.36G>C | |
X | g.54042681C>T | CA516566198 | PHF8 | c.48G>A (p.Val16=) c.156G>A (p.Val52=) n.36G>A | |
X | g.54042682A>C | CA413249800 | PHF8 | c.47T>G (p.Val16Gly) c.155T>G (p.Val52Gly) n.35T>G | |
X | g.54042682A>G | CA413249801 | PHF8 | c.47T>C (p.Val16Ala) c.155T>C (p.Val52Ala) n.35T>C | |
X | g.54042682A>T | CA413249802 | PHF8 | c.47T>A (p.Val16Glu) c.155T>A (p.Val52Glu) n.35T>A | |
X | g.54042683C>A | CA413249803 | PHF8 | c.46G>T (p.Val16Leu) c.154G>T (p.Val52Leu) n.34G>T | |
X | g.54042683C>G | CA413249804 | PHF8 | c.46G>C (p.Val16Leu) c.154G>C (p.Val52Leu) n.34G>C | |
X | g.54042683C>T | CA413249805 | PHF8 | c.46G>A (p.Val16Met) c.154G>A (p.Val52Met) n.34G>A | gnomAD v4 |
X | g.54042684A>C | CA413249806 | PHF8 | c.45T>G (p.Asp15Glu) c.153T>G (p.Asp51Glu) n.33T>G | |
X | g.54042684A>G | CA516566199 | PHF8 | c.45T>C (p.Asp15=) c.153T>C (p.Asp51=) n.33T>C | |
X | g.54042684A>T | CA413249807 | PHF8 | c.45T>A (p.Asp15Glu) c.153T>A (p.Asp51Glu) n.33T>A | |
X | g.54042685T>A | CA413249808 | PHF8 | c.44A>T (p.Asp15Val) c.152A>T (p.Asp51Val) n.32A>T | |
X | g.54042685T>C | CA413249809 | PHF8 | c.44A>G (p.Asp15Gly) c.152A>G (p.Asp51Gly) n.32A>G | |
X | g.54042685T>G | CA413249810 | PHF8 | c.44A>C (p.Asp15Ala) c.152A>C (p.Asp51Ala) n.32A>C | |
X | g.54042686C>A | CA413249813 | PHF8 | c.43G>T (p.Asp15Tyr) c.151G>T (p.Asp51Tyr) n.31G>T | |
X | g.54042686C>G | CA413249812 | PHF8 | c.43G>C (p.Asp15His) c.151G>C (p.Asp51His) n.31G>C | |
X | g.54042686C>T | CA413249811 | PHF8 | c.43G>A (p.Asp15Asn) c.151G>A (p.Asp51Asn) n.31G>A | COSMIC COSMIC COSMIC COSMIC |
X | g.54042687G>A | CA516566200 | PHF8 | c.42C>T (p.Tyr14=) c.150C>T (p.Tyr50=) n.30C>T | |
X | g.54042687G>C | CA413249814 | PHF8 | c.42C>G (p.Tyr14Ter) c.150C>G (p.Tyr50Ter) n.30C>G | |
X | g.54042687G>T | CA413249815 | PHF8 | c.42C>A (p.Tyr14Ter) c.150C>A (p.Tyr50Ter) n.30C>A | |
X | g.54042688T>A | CA413249816 | PHF8 | c.41A>T (p.Tyr14Phe) c.149A>T (p.Tyr50Phe) n.29A>T | |
X | g.54042688T>C | CA413249817 | PHF8 | c.41A>G (p.Tyr14Cys) c.149A>G (p.Tyr50Cys) n.29A>G | gnomAD v4 |
X | g.54042688T>G | CA413249818 | PHF8 | c.41A>C (p.Tyr14Ser) c.149A>C (p.Tyr50Ser) n.29A>C | |
X | g.54042689A>C | CA413249819 | PHF8 | c.40T>G (p.Tyr14Asp) c.148T>G (p.Tyr50Asp) n.28T>G | |
X | g.54042689A>G | CA413249820 | PHF8 | c.40T>C (p.Tyr14His) c.148T>C (p.Tyr50His) n.28T>C | |
X | g.54042689A>T | CA413249821 | PHF8 | c.40T>A (p.Tyr14Asn) c.148T>A (p.Tyr50Asn) n.28T>A | |
X | g.54042690A>C | CA516566203 | PHF8 | c.39T>G (p.Pro13=) c.147T>G (p.Pro49=) n.27T>G | |
X | g.54042690A>G | CA516566202 | PHF8 | c.39T>C (p.Pro13=) c.147T>C (p.Pro49=) n.27T>C | |
X | g.54042690A>T | CA516566201 | PHF8 | c.39T>A (p.Pro13=) c.147T>A (p.Pro49=) n.27T>A | |
X | g.54042691G>A | CA413249822 | PHF8 | c.38C>T (p.Pro13Leu) c.146C>T (p.Pro49Leu) n.26C>T | |
X | g.54042691G>C | CA413249823 | PHF8 | c.38C>G (p.Pro13Arg) c.146C>G (p.Pro49Arg) n.26C>G | |
X | g.54042691G>T | CA413249824 | PHF8 | c.38C>A (p.Pro13His) c.146C>A (p.Pro49His) n.26C>A | |
X | g.54042692G>A | CA413249827 | PHF8 | c.37C>T (p.Pro13Ser) c.145C>T (p.Pro49Ser) n.25C>T | |
X | g.54042692G>C | CA413249826 | PHF8 | c.37C>G (p.Pro13Ala) c.145C>G (p.Pro49Ala) n.25C>G | |
X | g.54042692G>T | CA413249825 | PHF8 | c.37C>A (p.Pro13Thr) c.145C>A (p.Pro49Thr) n.25C>A | |
X | g.54042693C>A | CA516566204 | PHF8 | c.36G>T (p.Leu12=) c.144G>T (p.Leu48=) n.24G>T | |
X | g.54042693C>G | CA516566206 | PHF8 | c.36G>C (p.Leu12=) c.144G>C (p.Leu48=) n.24G>C | |
X | g.54042693C>T | CA516566205 | PHF8 | c.36G>A (p.Leu12=) c.144G>A (p.Leu48=) n.24G>A | |
X | g.54042694A>C | CA413249828 | PHF8 | c.35T>G (p.Leu12Arg) c.143T>G (p.Leu48Arg) n.23T>G | |
X | g.54042694A>G | CA413249829 | PHF8 | c.35T>C (p.Leu12Pro) c.143T>C (p.Leu48Pro) n.23T>C | |
X | g.54042694A>T | CA413249830 | PHF8 | c.35T>A (p.Leu12Gln) c.143T>A (p.Leu48Gln) n.23T>A | |
X | g.54042695G>A | CA516566207 | PHF8 | c.34C>T (p.Leu12=) c.142C>T (p.Leu48=) n.22C>T | gnomAD v4 |
X | g.54042695G>C | CA413249831 | PHF8 | c.34C>G (p.Leu12Val) c.142C>G (p.Leu48Val) n.22C>G | |
X | g.54042695G>T | CA413249832 | PHF8 | c.34C>A (p.Leu12Met) c.142C>A (p.Leu48Met) n.22C>A | |
X | g.54042696C>A | CA516566208 | PHF8 | c.33G>T (p.Arg11=) c.141G>T (p.Arg47=) n.21G>T | |
X | g.54042696C>G | CA516566209 | PHF8 | c.33G>C (p.Arg11=) c.141G>C (p.Arg47=) n.21G>C | |
X | g.54042696C>T | CA516566210 | PHF8 | c.33G>A (p.Arg11=) c.141G>A (p.Arg47=) n.21G>A | |
X | g.54042697C>A | CA413249833 | PHF8 | c.32G>T (p.Arg11Leu) c.140G>T (p.Arg47Leu) n.20G>T | |
X | g.54042697C= | CA2430051098 | PHF8 | c.32G= (p.Arg11=) c.140G= (p.Arg47=) n.20G= | |
X | g.54042697C>G | CA413249834 | PHF8 | c.32G>C (p.Arg11Pro) c.140G>C (p.Arg47Pro) n.20G>C | |
X | g.54042697C>T | CA413249835 | PHF8 | c.32G>A (p.Arg11Gln) c.140G>A (p.Arg47Gln) n.20G>A | dbSNP |
X | g.54042698G>A | CA413249836 | PHF8 | c.31C>T (p.Arg11Trp) c.139C>T (p.Arg47Trp) n.19C>T | |
X | g.54042698G>C | CA413249837 | PHF8 | c.31C>G (p.Arg11Gly) c.139C>G (p.Arg47Gly) n.19C>G | |
X | g.54042698G>T | CA516566211 | PHF8 | c.31C>A (p.Arg11=) c.139C>A (p.Arg47=) n.19C>A | gnomAD v4 |
X | g.54042699G>A | CA516566212 | PHF8 | c.30C>T (p.Cys10=) c.138C>T (p.Cys46=) n.18C>T | COSMIC COSMIC COSMIC COSMIC |
X | g.54042699G>C | CA413249838 | PHF8 | c.30C>G (p.Cys10Trp) c.138C>G (p.Cys46Trp) n.18C>G | |
X | g.54042699G>T | CA413249839 | PHF8 | c.30C>A (p.Cys10Ter) c.138C>A (p.Cys46Ter) n.18C>A | |
X | g.54042700C>A | CA413249841 | PHF8 | c.29G>T (p.Cys10Phe) c.137G>T (p.Cys46Phe) n.17G>T | |
X | g.54042700C>G | CA413249842 | PHF8 | c.29G>C (p.Cys10Ser) c.137G>C (p.Cys46Ser) n.17G>C | |
X | g.54042700C>T | CA413249840 | PHF8 | c.29G>A (p.Cys10Tyr) c.137G>A (p.Cys46Tyr) n.17G>A | |
X | g.54042701A>C | CA413249845 | PHF8 | c.28T>G (p.Cys10Gly) c.136T>G (p.Cys46Gly) n.16T>G | |
X | g.54042701A>G | CA413249843 | PHF8 | c.28T>C (p.Cys10Arg) c.136T>C (p.Cys46Arg) n.16T>C | |
X | g.54042701A>T | CA413249844 | PHF8 | c.28T>A (p.Cys10Ser) c.136T>A (p.Cys46Ser) n.16T>A | |
X | g.54042702G>A | CA516566213 | PHF8 | c.27C>T (p.Leu9=) c.135C>T (p.Leu45=) n.15C>T | |
X | g.54042702G>C | CA516566214 | PHF8 | c.27C>G (p.Leu9=) c.135C>G (p.Leu45=) n.15C>G | |
X | g.54042702G>T | CA516566215 | PHF8 | c.27C>A (p.Leu9=) c.135C>A (p.Leu45=) n.15C>A | |
X | g.54042703A>C | CA413249846 | PHF8 | c.26T>G (p.Leu9Arg) c.134T>G (p.Leu45Arg) n.14T>G | |
X | g.54042703A>G | CA413249847 | PHF8 | c.26T>C (p.Leu9Pro) c.134T>C (p.Leu45Pro) n.14T>C | |
X | g.54042703A>T | CA413249848 | PHF8 | c.26T>A (p.Leu9His) c.134T>A (p.Leu45His) n.14T>A | |
X | g.54042704G>A | CA413249851 | PHF8 | c.25C>T (p.Leu9Phe) c.133C>T (p.Leu45Phe) n.13C>T | gnomAD v4 |
X | g.54042704G>C | CA413249850 | PHF8 | c.25C>G (p.Leu9Val) c.133C>G (p.Leu45Val) n.13C>G | |
X | g.54042704G>T | CA413249849 | PHF8 | c.25C>A (p.Leu9Ile) c.133C>A (p.Leu45Ile) n.13C>A | |
X | g.54042705G>A | CA10423692 | PHF8 | c.24C>T (p.Cys8=) c.132C>T (p.Cys44=) n.12C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54042705G>C | CA413249852 | PHF8 | c.24C>G (p.Cys8Trp) c.132C>G (p.Cys44Trp) n.12C>G | |
X | g.54042705G= | CA2430051099 | PHF8 | c.24C= (p.Cys8=) c.132C= (p.Cys44=) n.12C= | |
X | g.54042705G>T | CA413249853 | PHF8 | c.24C>A (p.Cys8Ter) c.132C>A (p.Cys44Ter) n.12C>A | |
X | g.54042706C>A | CA413249854 | PHF8 | c.23G>T (p.Cys8Phe) c.131G>T (p.Cys44Phe) n.11G>T | |
X | g.54042706C>G | CA413249855 | PHF8 | c.23G>C (p.Cys8Ser) c.131G>C (p.Cys44Ser) n.11G>C | |
X | g.54042706C>T | CA413249856 | PHF8 | c.23G>A (p.Cys8Tyr) c.131G>A (p.Cys44Tyr) n.11G>A | |
X | g.54042707A>C | CA413249857 | PHF8 | c.22T>G (p.Cys8Gly) c.130T>G (p.Cys44Gly) n.10T>G | |
X | g.54042707A>G | CA413249859 | PHF8 | c.22T>C (p.Cys8Arg) c.130T>C (p.Cys44Arg) n.10T>C | |
X | g.54042707A>T | CA413249858 | PHF8 | c.22T>A (p.Cys8Ser) c.130T>A (p.Cys44Ser) n.10T>A | |
X | g.54042708A>C | CA413249860 | PHF8 | c.21T>G (p.Tyr7Ter) c.129T>G (p.Tyr43Ter) n.9T>G | |
X | g.54042708A>G | CA516566216 | PHF8 | c.21T>C (p.Tyr7=) c.129T>C (p.Tyr43=) n.9T>C | |
X | g.54042708A>T | CA413249861 | PHF8 | c.21T>A (p.Tyr7Ter) c.129T>A (p.Tyr43Ter) n.9T>A | |
X | g.54042709T>A | CA413249862 | PHF8 | c.20A>T (p.Tyr7Phe) c.128A>T (p.Tyr43Phe) n.8A>T | |
X | g.54042709T>C | CA413249863 | PHF8 | c.20A>G (p.Tyr7Cys) c.128A>G (p.Tyr43Cys) n.8A>G | |
X | g.54042709T>G | CA413249864 | PHF8 | c.20A>C (p.Tyr7Ser) c.128A>C (p.Tyr43Ser) n.8A>C | |
X | g.54042710A>C | CA413249865 | PHF8 | c.19T>G (p.Tyr7Asp) c.127T>G (p.Tyr43Asp) n.7T>G | |
X | g.54042710A>G | CA413249866 | PHF8 | c.19T>C (p.Tyr7His) c.127T>C (p.Tyr43His) n.7T>C | |
X | g.54042710A>T | CA413249867 | PHF8 | c.19T>A (p.Tyr7Asn) c.127T>A (p.Tyr43Asn) n.7T>A | |
X | g.54042711C>A | CA516566217 | PHF8 | c.18G>T (p.Val6=) c.126G>T (p.Val42=) n.6G>T | |
X | g.54042711C>G | CA516566218 | PHF8 | c.18G>C (p.Val6=) c.126G>C (p.Val42=) n.6G>C | |
X | g.54042711C>T | CA516566219 | PHF8 | c.18G>A (p.Val6=) c.126G>A (p.Val42=) n.6G>A | |
X | g.54042716_54042721del | CA2693831007 | PHF8 | c.13_18del (p.Pro5_Val6del) c.121_126del (p.Pro41_Val42del) | gnomAD v4 |
X | g.54042712A= | CA2430051100 | PHF8 | c.17T= (p.Val6=) c.125T= (p.Val42=) n.5T= | |
X | g.54042712A>C | CA413249868 | PHF8 | c.17T>G (p.Val6Gly) c.125T>G (p.Val42Gly) n.5T>G | dbSNP |
X | g.54042712A>G | CA413249869 | PHF8 | c.17T>C (p.Val6Ala) c.125T>C (p.Val42Ala) n.5T>C | |
X | g.54042712A>T | CA413249870 | PHF8 | c.17T>A (p.Val6Glu) c.125T>A (p.Val42Glu) n.5T>A | |
X | g.54042713C>A | CA413249873 | PHF8 | c.16G>T (p.Val6Leu) c.124G>T (p.Val42Leu) n.4G>T | |
X | g.54042713C>G | CA413249872 | PHF8 | c.16G>C (p.Val6Leu) c.124G>C (p.Val42Leu) n.4G>C | |
X | g.54042713C>T | CA413249871 | PHF8 | c.16G>A (p.Val6Met) c.124G>A (p.Val42Met) n.4G>A | |
X | g.54042714C>A | CA516566220 | PHF8 | c.15G>T (p.Pro5=) c.123G>T (p.Pro41=) n.3G>T | |
X | g.54042714C>G | CA516566222 | PHF8 | c.15G>C (p.Pro5=) c.123G>C (p.Pro41=) n.3G>C | |
X | g.54042714C>T | CA516566221 | PHF8 | c.15G>A (p.Pro5=) c.123G>A (p.Pro41=) n.3G>A | gnomAD v4 |
X | g.54042715G>A | CA413249874 | PHF8 | c.14C>T (p.Pro5Leu) c.122C>T (p.Pro41Leu) n.2C>T | |
X | g.54042715G>C | CA413249875 | PHF8 | c.14C>G (p.Pro5Arg) c.122C>G (p.Pro41Arg) n.2C>G | |
X | g.54042715G>T | CA413249876 | PHF8 | c.14C>A (p.Pro5Gln) c.122C>A (p.Pro41Gln) n.2C>A | |
X | g.54042716G>A | CA413249877 | PHF8 | c.13C>T (p.Pro5Ser) c.121C>T (p.Pro41Ser) n.1C>T | |
X | g.54042716G>C | CA413249878 | PHF8 | c.13C>G (p.Pro5Ala) c.121C>G (p.Pro41Ala) n.1C>G | |
X | g.54042716G>T | CA413249879 | PHF8 | c.13C>A (p.Pro5Thr) c.121C>A (p.Pro41Thr) n.1C>A | |
X | g.54042717C>A | CA516566223 | PHF8 | c.12G>T (p.Val4=) c.120G>T (p.Val40=) | |
X | g.54042717C>G | CA516566224 | PHF8 | c.12G>C (p.Val4=) c.120G>C (p.Val40=) | |
X | g.54042717C>T | CA516566225 | PHF8 | c.12G>A (p.Val4=) c.120G>A (p.Val40=) | |
X | g.54042718A>C | CA413249880 | PHF8 | c.11T>G (p.Val4Gly) c.119T>G (p.Val40Gly) | |
X | g.54042718A>G | CA413249881 | PHF8 | c.11T>C (p.Val4Ala) c.119T>C (p.Val40Ala) | gnomAD v4 |
X | g.54042718A>T | CA413249882 | PHF8 | c.11T>A (p.Val4Glu) c.119T>A (p.Val40Glu) | |
X | g.54042719C>A | CA413249883 | PHF8 | c.10G>T (p.Val4Leu) c.118G>T (p.Val40Leu) | |
X | g.54042719C>G | CA413249884 | PHF8 | c.10G>C (p.Val4Leu) c.118G>C (p.Val40Leu) | |
X | g.54042719C>T | CA413249885 | PHF8 | c.10G>A (p.Val4Met) c.118G>A (p.Val40Met) | gnomAD v4 |
X | g.54042720C>A | CA516566226 | PHF8 | c.9G>T (p.Ser3=) c.117G>T (p.Ser39=) | |
X | g.54042720C= | CA2430051101 | PHF8 | c.9G= (p.Ser3=) c.117G= (p.Ser39=) | |
X | g.54042720C>G | CA516566227 | PHF8 | c.9G>C (p.Ser3=) c.117G>C (p.Ser39=) | |
X | g.54042720C>T | CA516566228 | PHF8 | c.9G>A (p.Ser3=) c.117G>A (p.Ser39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042721del | CA2579619968 | PHF8 | c.8del (p.Ser3TrpfsTer14) c.116del (p.Ser39TrpfsTer14) | |
X | g.54042721G>A | CA413249887 | PHF8 | c.8C>T (p.Ser3Leu) c.116C>T (p.Ser39Leu) | gnomAD v4 |
X | g.54042721G>C | CA413249888 | PHF8 | c.8C>G (p.Ser3Trp) c.116C>G (p.Ser39Trp) | |
X | g.54042721G>T | CA413249886 | PHF8 | c.8C>A (p.Ser3Ter) c.116C>A (p.Ser39Ter) | |
X | g.54042722A>C | CA413249889 | PHF8 | c.7T>G (p.Ser3Ala) c.115T>G (p.Ser39Ala) | |
X | g.54042722A>G | CA413249890 | PHF8 | c.7T>C (p.Ser3Pro) c.115T>C (p.Ser39Pro) | |
X | g.54042722A>T | CA413249891 | PHF8 | c.7T>A (p.Ser3Thr) c.115T>A (p.Ser39Thr) | |
X | g.54042723G>A | CA10423693 | PHF8 | c.6C>T (p.Ala2=) c.114C>T (p.Ala38=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042723G>C | CA516566229 | PHF8 | c.6C>G (p.Ala2=) c.114C>G (p.Ala38=) | |
X | g.54042723G= | CA2430051102 | PHF8 | c.6C= (p.Ala2=) c.114C= (p.Ala38=) | |
X | g.54042723G>T | CA516566230 | PHF8 | c.6C>A (p.Ala2=) c.114C>A (p.Ala38=) | |
X | g.54042724G>A | CA413249894 | PHF8 | c.5C>T (p.Ala2Val) c.113C>T (p.Ala38Val) | |
X | g.54042724G>C | CA413249893 | PHF8 | c.5C>G (p.Ala2Gly) c.113C>G (p.Ala38Gly) | |
X | g.54042724G>T | CA413249892 | PHF8 | c.5C>A (p.Ala2Asp) c.113C>A (p.Ala38Asp) | |
X | g.54042725C>A | CA413249895 | PHF8 | c.4G>T (p.Ala2Ser) c.112G>T (p.Ala38Ser) | |
X | g.54042725C>G | CA413249896 | PHF8 | c.4G>C (p.Ala2Pro) c.112G>C (p.Ala38Pro) | |
X | g.54042725C>T | CA413249897 | PHF8 | c.4G>A (p.Ala2Thr) c.112G>A (p.Ala38Thr) | |
X | g.54042726C>A | CA413249898 | PHF8 | c.3G>T (p.Met1Ile) c.111G>T (p.Met37Ile) | |
X | g.54042726C>G | CA413249899 | PHF8 | c.3G>C (p.Met1Ile) c.111G>C (p.Met37Ile) | |
X | g.54042726C>T | CA413249900 | PHF8 | c.3G>A (p.Met1Ile) c.111G>A (p.Met37Ile) | |
X | g.54042727A>C | CA413249903 | PHF8 | c.2T>G (p.Met1Arg) c.110T>G (p.Met37Arg) | |
X | g.54042727A>G | CA413249902 | PHF8 | c.2T>C (p.Met1Thr) c.110T>C (p.Met37Thr) | |
X | g.54042727A>T | CA413249901 | PHF8 | c.2T>A (p.Met1Lys) c.110T>A (p.Met37Lys) | |
X | g.54042728T>A | CA413249904 | PHF8 | c.1A>T (p.Met1Leu) c.109A>T (p.Met37Leu) | |
X | g.54042728T>C | CA413249906 | PHF8 | c.1A>G (p.Met1Val) c.109A>G (p.Met37Val) | |
X | g.54042728T>G | CA413249905 | PHF8 | c.1A>C (p.Met1Leu) c.109A>C (p.Met37Leu) | |
X | g.54042729C>A | CA413249907 | PHF8 | c.-1G>T (n.-1G>T) c.108G>T (p.Lys36Asn) | |
X | g.54042729C= | CA2430051103 | PHF8 | c.-1G= (n.-1G=) c.108G= (p.Lys36=) | |
X | g.54042729C>G | CA413249908 | PHF8 | c.-1G>C (n.-1G>C) c.108G>C (p.Lys36Asn) | |
X | g.54042729C>T | CA10423694 | PHF8 | c.-1G>A (n.-1G>A) c.108G>A (p.Lys36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042730T>A | CA413249909 | PHF8 | c.-2A>T (n.-2A>T) c.107A>T (p.Lys36Met) | |
X | g.54042730T>C | CA413249910 | PHF8 | c.-2A>G (n.-2A>G) c.107A>G (p.Lys36Arg) | |
X | g.54042730T>G | CA413249911 | PHF8 | c.-2A>C (n.-2A>C) c.107A>C (p.Lys36Thr) | |
X | g.54042731T>A | CA413249912 | PHF8 | c.-3A>T (n.-3A>T) c.106A>T (p.Lys36Ter) | |
X | g.54042731T>C | CA413249913 | PHF8 | c.-3A>G (n.-3A>G) c.106A>G (p.Lys36Glu) | |
X | g.54042731T>G | CA413249914 | PHF8 | c.-3A>C (n.-3A>C) c.106A>C (p.Lys36Gln) | |
X | g.54042732C>A | CA516566231 | PHF8 | c.-4G>T (n.-4G>T) c.105G>T (p.Ala35=) | |
X | g.54042732C= | CA2430051104 | PHF8 | c.-4G= (n.-4G=) c.105G= (p.Ala35=) | |
X | g.54042732C>G | CA516566232 | PHF8 | c.-4G>C (n.-4G>C) c.105G>C (p.Ala35=) | |
X | g.54042732C>T | CA10423695 | PHF8 | c.-4G>A (n.-4G>A) c.105G>A (p.Ala35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042733G>A | CA10423696 | PHF8 | c.-5C>T (n.-5C>T) c.104C>T (p.Ala35Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042733G>C | CA413249915 | PHF8 | c.-5C>G (n.-5C>G) c.104C>G (p.Ala35Gly) | gnomAD v4 |
X | g.54042733G= | CA2430051105 | PHF8 | c.-5C= (n.-5C=) c.104C= (p.Ala35=) | |
X | g.54042733G>T | CA413249916 | PHF8 | c.-5C>A (n.-5C>A) c.104C>A (p.Ala35Glu) | COSMIC |
X | g.54042734del | CA2571340586 | PHF8 | c.-6del (n.-6del) c.103del (p.Ala35ArgfsTer18) | |
X | g.54042734C>A | CA413249919 | PHF8 | c.-6G>T (n.-6G>T) c.103G>T (p.Ala35Ser) | |
X | g.54042734C= | CA2430051106 | PHF8 | c.-6G= (n.-6G=) c.103G= (p.Ala35=) | |
X | g.54042734C>G | CA413249918 | PHF8 | c.-6G>C (n.-6G>C) c.103G>C (p.Ala35Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54042734C>T | CA413249917 | PHF8 | c.-6G>A (n.-6G>A) c.103G>A (p.Ala35Thr) | |
X | g.54042735T>A | CA516566233 | PHF8 | c.-7A>T (n.-7A>T) c.102A>T (p.Arg34=) | |
X | g.54042735T>C | CA516566235 | PHF8 | c.-7A>G (n.-7A>G) c.102A>G (p.Arg34=) | |
X | g.54042735T>G | CA516566234 | PHF8 | c.-7A>C (n.-7A>C) c.102A>C (p.Arg34=) | |
X | g.54042736del | CA2579619969 | PHF8 | c.-8del (n.-8del) c.101del (p.Arg34GlnfsTer19) | |
X | g.54042736C>A | CA413249920 | PHF8 | c.-8G>T (n.-8G>T) c.101G>T (p.Arg34Leu) | gnomAD v4 |
X | g.54042736C= | CA2430051107 | PHF8 | c.-8G= (n.-8G=) c.101G= (p.Arg34=) | |
X | g.54042736C>G | CA413249921 | PHF8 | c.-8G>C (n.-8G>C) c.101G>C (p.Arg34Pro) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54042736C>T | CA329927522 | PHF8 | c.-8G>A (n.-8G>A) c.101G>A (p.Arg34Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.54042741_54042762del | CA2519210689 | PHF8 | c.-29_-8del (n.-29_-8del) c.80_101del (p.Gly27GlufsTer19) | |
X | g.54042736_54042737insT | CA2535031377 | PHF8 | c.-9_-8insA (n.-9_-8insA) c.100_101insA (p.Arg34GlnfsTer27) | |
X | g.54042737G>A | CA10423697 | PHF8 | c.-9C>T (n.-9C>T) c.100C>T (p.Arg34Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54042737G>C | CA413249922 | PHF8 | c.-9C>G (n.-9C>G) c.100C>G (p.Arg34Gly) | |
X | g.54042737G= | CA2430051108 | PHF8 | c.-9C= (n.-9C=) c.100C= (p.Arg34=) | |
X | g.54042737G>T | CA516566236 | PHF8 | c.-9C>A (n.-9C>A) c.100C>A (p.Arg34=) | |
X | g.54042738G>A | CA516566237 | PHF8 | c.-10C>T (n.-10C>T) c.99C>T (p.Gly33=) | |
X | g.54042738G>C | CA516566238 | PHF8 | c.-10C>G (n.-10C>G) c.99C>G (p.Gly33=) | |
X | g.54042738G>T | CA516566239 | PHF8 | c.-10C>A (n.-10C>A) c.99C>A (p.Gly33=) | |
X | g.54042739C>A | CA413249923 | PHF8 | c.-11G>T (n.-11G>T) c.98G>T (p.Gly33Val) | |
X | g.54042739C>G | CA413249924 | PHF8 | c.-11G>C (n.-11G>C) c.98G>C (p.Gly33Ala) | |
X | g.54042739C>T | CA413249925 | PHF8 | c.-11G>A (n.-11G>A) c.98G>A (p.Gly33Asp) | |
X | g.54042740C>A | CA413249926 | PHF8 | c.-12G>T (n.-12G>T) c.97G>T (p.Gly33Cys) | gnomAD v4 |
X | g.54042740C>G | CA413249927 | PHF8 | c.-12G>C (n.-12G>C) c.97G>C (p.Gly33Arg) | |
X | g.54042740C>T | CA413249928 | PHF8 | c.-12G>A (n.-12G>A) c.97G>A (p.Gly33Ser) | gnomAD v4 |
X | g.54042741C>A | CA413249929 | PHF8 | c.-13G>T (n.-13G>T) c.96G>T (p.Gln32His) | gnomAD v4 |
X | g.54042741C>G | CA413249930 | PHF8 | c.-13G>C (n.-13G>C) c.96G>C (p.Gln32His) | |
X | g.54042741C>T | CA516566240 | PHF8 | c.-13G>A (n.-13G>A) c.96G>A (p.Gln32=) | gnomAD v4 |
X | g.54042742T>A | CA413249933 | PHF8 | c.-14A>T (n.-14A>T) c.95A>T (p.Gln32Leu) | |
X | g.54042742T>C | CA413249932 | PHF8 | c.-14A>G (n.-14A>G) c.95A>G (p.Gln32Arg) | gnomAD v4 |
X | g.54042742T>G | CA413249931 | PHF8 | c.-14A>C (n.-14A>C) c.95A>C (p.Gln32Pro) | |
X | g.54042742_54042754delinsTGGAGCGTTCTGC | CA2430051109 | PHF8 | c.-26_-14delinsGCAGAACGCTCCA (n.-26_-14delinsGCAGAACGCTCCA) c.83_95delinsGCAGAACGCTCCA (p.Arg28=) | |
X | g.54042743G>A | CA413249934 | PHF8 | c.-15C>T (n.-15C>T) c.94C>T (p.Gln32Ter) | |
X | g.54042743G>C | CA413249935 | PHF8 | c.-15C>G (n.-15C>G) c.94C>G (p.Gln32Glu) | |
X | g.54042743G>T | CA413249936 | PHF8 | c.-15C>A (n.-15C>A) c.94C>A (p.Gln32Lys) | |
X | g.54042745_54042756del | CA2430051110 | PHF8 | c.-26_-15del (n.-26_-15del) c.83_94del (p.Arg28_Leu31del) | dbSNP |
X | g.54042744G>A | CA516566243 | PHF8 | c.-16C>T (n.-16C>T) c.93C>T (p.Leu31=) | |
X | g.54042744G>C | CA516566241 | PHF8 | c.-16C>G (n.-16C>G) c.93C>G (p.Leu31=) | |
X | g.54042744G>T | CA516566242 | PHF8 | c.-16C>A (n.-16C>A) c.93C>A (p.Leu31=) | |
X | g.54042745A>C | CA413249937 | PHF8 | c.-17T>G (n.-17T>G) c.92T>G (p.Leu31Arg) | |
X | g.54042745A>G | CA413249938 | PHF8 | c.-17T>C (n.-17T>C) c.92T>C (p.Leu31Pro) | gnomAD v4 |
X | g.54042745A>T | CA413249939 | PHF8 | c.-17T>A (n.-17T>A) c.92T>A (p.Leu31His) | |
X | g.54042746G>A | CA413249940 | PHF8 | c.-18C>T (n.-18C>T) c.91C>T (p.Leu31Phe) | |
X | g.54042746G>C | CA413249941 | PHF8 | c.-18C>G (n.-18C>G) c.91C>G (p.Leu31Val) | |
X | g.54042746G>T | CA413249942 | PHF8 | c.-18C>A (n.-18C>A) c.91C>A (p.Leu31Ile) | |
X | g.54042747C>A | CA516566244 | PHF8 | c.-19G>T (n.-19G>T) c.90G>T (p.Thr30=) | |
X | g.54042747C>G | CA516566245 | PHF8 | c.-19G>C (n.-19G>C) c.90G>C (p.Thr30=) | gnomAD v4 |
X | g.54042747C>T | CA516566246 | PHF8 | c.-19G>A (n.-19G>A) c.90G>A (p.Thr30=) | |
X | g.54042748G>A | CA413249943 | PHF8 | c.-20C>T (n.-20C>T) c.89C>T (p.Thr30Met) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54042748G>C | CA413249944 | PHF8 | c.-20C>G (n.-20C>G) c.89C>G (p.Thr30Arg) | |
X | g.54042748G= | CA2430051111 | PHF8 | c.-20C= (n.-20C=) c.89C= (p.Thr30=) | |
X | g.54042748G>T | CA413249945 | PHF8 | c.-20C>A (n.-20C>A) c.89C>A (p.Thr30Lys) | dbSNP gnomAD v2 |
X | g.54042749T>A | CA413249948 | PHF8 | c.-21A>T (n.-21A>T) c.88A>T (p.Thr30Ser) | |
X | g.54042749T>C | CA413249947 | PHF8 | c.-21A>G (n.-21A>G) c.88A>G (p.Thr30Ala) | |
X | g.54042749T>G | CA413249946 | PHF8 | c.-21A>C (n.-21A>C) c.88A>C (p.Thr30Pro) | |
X | g.54042750T>A | CA413249949 | PHF8 | c.-22A>T (n.-22A>T) c.87A>T (p.Arg29Ser) | |
X | g.54042750T>C | CA516566247 | PHF8 | c.-22A>G (n.-22A>G) c.87A>G (p.Arg29=) | |
X | g.54042750T>G | CA413249950 | PHF8 | c.-22A>C (n.-22A>C) c.87A>C (p.Arg29Ser) | |
X | g.54042751C>A | CA413249951 | PHF8 | c.-23G>T (n.-23G>T) c.86G>T (p.Arg29Ile) | |
X | g.54042751C>G | CA413249952 | PHF8 | c.-23G>C (n.-23G>C) c.86G>C (p.Arg29Thr) | |
X | g.54042751C>T | CA413249953 | PHF8 | c.-23G>A (n.-23G>A) c.86G>A (p.Arg29Lys) | |
X | g.54042752T>A | CA413249955 | PHF8 | c.-24A>T (n.-24A>T) c.85A>T (p.Arg29Ter) | gnomAD v4 |
X | g.54042752T>C | CA10423698 | PHF8 | c.-24A>G (n.-24A>G) c.85A>G (p.Arg29Gly) | dbSNP ExAC gnomAD v2 |
X | g.54042752T>G | CA516566248 | PHF8 | c.-24A>C (n.-24A>C) c.85A>C (p.Arg29=) | |
X | g.54042752T= | CA2430051112 | PHF8 | c.-24A= (n.-24A=) c.85A= (p.Arg29=) | |
X | g.54042753G>A | CA516566249 | PHF8 | c.-25C>T (n.-25C>T) c.84C>T (p.Arg28=) | |
X | g.54042753G>C | CA516566250 | PHF8 | c.-25C>G (n.-25C>G) c.84C>G (p.Arg28=) | |
X | g.54042753G>T | CA516566251 | PHF8 | c.-25C>A (n.-25C>A) c.84C>A (p.Arg28=) | |
X | g.54042754C>A | CA413249956 | PHF8 | c.-26G>T (n.-26G>T) c.83G>T (p.Arg28Leu) | gnomAD v4 |
X | g.54042754C= | CA2430051113 | PHF8 | c.-26G= (n.-26G=) c.83G= (p.Arg28=) | |
X | g.54042754C>G | CA413249957 | PHF8 | c.-26G>C (n.-26G>C) c.83G>C (p.Arg28Pro) | |
X | g.54042754C>T | CA413249958 | PHF8 | c.-26G>A (n.-26G>A) c.83G>A (p.Arg28His) | dbSNP gnomAD v4 |
X | g.54042755G>A | CA413249959 | PHF8 | c.-27C>T (n.-27C>T) c.82C>T (p.Arg28Cys) | gnomAD v4 |
X | g.54042755G>C | CA413249960 | PHF8 | c.-27C>G (n.-27C>G) c.82C>G (p.Arg28Gly) | dbSNP |
X | g.54042755G= | CA2430051114 | PHF8 | c.-27C= (n.-27C=) c.82C= (p.Arg28=) | |
X | g.54042755G>T | CA413249961 | PHF8 | c.-27C>A (n.-27C>A) c.82C>A (p.Arg28Ser) | gnomAD v4 |
X | g.54042756G>A | CA516566252 | PHF8 | c.-28C>T (n.-28C>T) c.81C>T (p.Gly27=) | gnomAD v4 |
X | g.54042756G>C | CA516566253 | PHF8 | c.-28C>G (n.-28C>G) c.81C>G (p.Gly27=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54042756G= | CA2430051115 | PHF8 | c.-28C= (n.-28C=) c.81C= (p.Gly27=) | |
X | g.54042756G>T | CA516566254 | PHF8 | c.-28C>A (n.-28C>A) c.81C>A (p.Gly27=) | |
X | g.54042757C>A | CA10423699 | PHF8 | c.-29G>T (n.-29G>T) c.80G>T (p.Gly27Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042757C= | CA2430051116 | PHF8 | c.-29G= (n.-29G=) c.80G= (p.Gly27=) | |
X | g.54042757C>G | CA413249963 | PHF8 | c.-29G>C (n.-29G>C) c.80G>C (p.Gly27Ala) | |
X | g.54042757C>T | CA413249962 | PHF8 | c.-29G>A (n.-29G>A) c.80G>A (p.Gly27Asp) | dbSNP |
X | g.54042758C>A | CA413249964 | PHF8 | c.-30G>T (n.-30G>T) c.79G>T (p.Gly27Cys) | |
X | g.54042758C>G | CA413249966 | PHF8 | c.-30G>C (n.-30G>C) c.79G>C (p.Gly27Arg) | |
X | g.54042758C>T | CA413249965 | PHF8 | c.-30G>A (n.-30G>A) c.79G>A (p.Gly27Ser) | |
X | g.54042759G>A | CA10423700 | PHF8 | c.-31C>T (n.-31C>T) c.78C>T (p.Ala26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042759G>C | CA516566255 | PHF8 | c.-31C>G (n.-31C>G) c.78C>G (p.Ala26=) | |
X | g.54042759G= | CA2430051117 | PHF8 | c.-31C= (n.-31C=) c.78C= (p.Ala26=) | |
X | g.54042759G>T | CA516566256 | PHF8 | c.-31C>A (n.-31C>A) c.78C>A (p.Ala26=) | |
X | g.54042759_54042760insA | CA2430051118 | PHF8 | c.-32_-31insT (n.-32_-31insT) c.77_78insT (p.Gly27ArgfsTer?) | dbSNP |
X | g.54042760G>A | CA413249967 | PHF8 | c.-32C>T (n.-32C>T) c.77C>T (p.Ala26Val) | |
X | g.54042760G>C | CA413249968 | PHF8 | c.-32C>G (n.-32C>G) c.77C>G (p.Ala26Gly) | |
X | g.54042760G>T | CA413249969 | PHF8 | c.-32C>A (n.-32C>A) c.77C>A (p.Ala26Asp) | |
X | g.54042761C>A | CA413249970 | PHF8 | c.-33G>T (n.-33G>T) c.76G>T (p.Ala26Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54042761C= | CA2430051119 | PHF8 | c.-33G= (n.-33G=) c.76G= (p.Ala26=) | |
X | g.54042761C>G | CA413249971 | PHF8 | c.-33G>C (n.-33G>C) c.76G>C (p.Ala26Pro) | |
X | g.54042761C>T | CA413249972 | PHF8 | c.-33G>A (n.-33G>A) c.76G>A (p.Ala26Thr) | |
X | g.54042762C>A | CA516566257 | PHF8 | c.-34G>T (n.-34G>T) c.75G>T (p.Leu25=) | |
X | g.54042762C>G | CA516566258 | PHF8 | c.-34G>C (n.-34G>C) c.75G>C (p.Leu25=) | |
X | g.54042762C>T | CA516566259 | PHF8 | c.-34G>A (n.-34G>A) c.75G>A (p.Leu25=) | |
X | g.54042763A>C | CA413249973 | PHF8 | c.-35T>G (n.-35T>G) c.74T>G (p.Leu25Arg) | |
X | g.54042763A>G | CA413249974 | PHF8 | c.-35T>C (n.-35T>C) c.74T>C (p.Leu25Pro) | |
X | g.54042763A>T | CA413249975 | PHF8 | c.-35T>A (n.-35T>A) c.74T>A (p.Leu25Gln) | |
X | g.54042764G>A | CA516566260 | PHF8 | c.-36C>T (n.-36C>T) c.73C>T (p.Leu25=) | gnomAD v4 |
X | g.54042764G>C | CA413249976 | PHF8 | c.-36C>G (n.-36C>G) c.73C>G (p.Leu25Val) | |
X | g.54042764G>T | CA413249977 | PHF8 | c.-36C>A (n.-36C>A) c.73C>A (p.Leu25Met) | gnomAD v4 |
X | g.54042765del | CA2693831022 | PHF8 | c.-36del (n.-36del) c.73del (p.Leu25TrpfsTer28) | gnomAD v4 |
X | g.54042765G>A | CA10423701 | PHF8 | c.-37C>T (n.-37C>T) c.72C>T (p.Asn24=) | dbSNP ExAC gnomAD v2 |
X | g.54042765G>C | CA413249980 | PHF8 | c.-37C>G (n.-37C>G) c.72C>G (p.Asn24Lys) | |
X | g.54042765G= | CA2430051120 | PHF8 | c.-37C= (n.-37C=) c.72C= (p.Asn24=) | |
X | g.54042765G>T | CA413249979 | PHF8 | c.-37C>A (n.-37C>A) c.72C>A (p.Asn24Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.54042766T>A | CA413249981 | PHF8 | c.-38A>T (n.-38A>T) c.71A>T (p.Asn24Ile) | |
X | g.54042766T>C | CA413249982 | PHF8 | c.-38A>G (n.-38A>G) c.71A>G (p.Asn24Ser) | |
X | g.54042766T>G | CA413249983 | PHF8 | c.-38A>C (n.-38A>C) c.71A>C (p.Asn24Thr) | |
X | g.54042767T>A | CA413249984 | PHF8 | c.-39A>T (n.-39A>T) c.70A>T (p.Asn24Tyr) | |
X | g.54042767T>C | CA413249985 | PHF8 | c.-39A>G (n.-39A>G) c.70A>G (p.Asn24Asp) | |
X | g.54042767T>G | CA413249986 | PHF8 | c.-39A>C (n.-39A>C) c.70A>C (p.Asn24His) | gnomAD v4 |
X | g.54042768C>A | CA516566261 | PHF8 | c.-40G>T (n.-40G>T) c.69G>T (p.Thr23=) | |
X | g.54042768C= | CA2430051121 | PHF8 | c.-40G= (n.-40G=) c.69G= (p.Thr23=) | |
X | g.54042768C>G | CA516566262 | PHF8 | c.-40G>C (n.-40G>C) c.69G>C (p.Thr23=) | COSMIC |
X | g.54042768C>T | CA516566263 | PHF8 | c.-40G>A (n.-40G>A) c.69G>A (p.Thr23=) | dbSNP |
X | g.54042769G>A | CA413249987 | PHF8 | c.-41C>T (n.-41C>T) c.68C>T (p.Thr23Met) | |
X | g.54042769G>C | CA413249988 | PHF8 | c.-41C>G (n.-41C>G) c.68C>G (p.Thr23Arg) | |
X | g.54042769G>T | CA413249989 | PHF8 | c.-41C>A (n.-41C>A) c.68C>A (p.Thr23Lys) | COSMIC |
X | g.54042770T>A | CA413249991 | PHF8 | c.-42A>T (n.-42A>T) c.67A>T (p.Thr23Ser) | |
X | g.54042770T>C | CA413249992 | PHF8 | c.-42A>G (n.-42A>G) c.67A>G (p.Thr23Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.54042770T>G | CA413249990 | PHF8 | c.-42A>C (n.-42A>C) c.67A>C (p.Thr23Pro) | gnomAD v4 |
X | g.54042770T= | CA2430051122 | PHF8 | c.-42A= (n.-42A=) c.67A= (p.Thr23=) | |
X | g.54042771C>A | CA516566265 | PHF8 | c.-43G>T (n.-43G>T) c.66G>T (p.Thr22=) | gnomAD v4 |
X | g.54042771C>G | CA516566264 | PHF8 | c.-43G>C (n.-43G>C) c.66G>C (p.Thr22=) | |
X | g.54042771C>T | CA516566266 | PHF8 | c.-43G>A (n.-43G>A) c.66G>A (p.Thr22=) | |
X | g.54042772G>A | CA413249993 | PHF8 | c.-44C>T (n.-44C>T) c.65C>T (p.Thr22Met) | dbSNP |
X | g.54042772G>C | CA413249994 | PHF8 | c.-44C>G (n.-44C>G) c.65C>G (p.Thr22Arg) | |
X | g.54042772G= | CA2430051123 | PHF8 | c.-44C= (n.-44C=) c.65C= (p.Thr22=) | |
X | g.54042772G>T | CA413249995 | PHF8 | c.-44C>A (n.-44C>A) c.65C>A (p.Thr22Lys) | |
X | g.54042773T>A | CA413249997 | PHF8 | c.-45A>T (n.-45A>T) c.64A>T (p.Thr22Ser) | |
X | g.54042773T>C | CA413249998 | PHF8 | c.-45A>G (n.-45A>G) c.64A>G (p.Thr22Ala) | |
X | g.54042773T>G | CA413250000 | PHF8 | c.-45A>C (n.-45A>C) c.64A>C (p.Thr22Pro) | |
X | g.54042773_54042774insCT | CA413249996 | PHF8 | c.-45_-44insGA (n.-45_-44insGA) c.64_65insGA (p.Thr22ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |