Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.36684103_36684126delinsTGTCAGAACCGGCTGGGGATGTCC | CA1621456866 | CDKN1A | c.2_25delinsTGTCAGAACCGGCTGGGGATGTCC (p.Met1=) n.196_219delinsTGTCAGAACCGGCTGGGGATGTCC n.221_244delinsTGTCAGAACCGGCTGGGGATGTCC c.104_127delinsTGTCAGAACCGGCTGGGGATGTCC (p.Met35=) c.41_64delinsTGTCAGAACCGGCTGGGGATGTCC (p.Met14=) | |
6 | g.36684113_36684135del | CA566531584 | CDKN1A | c.12_34del (p.Ala5MetfsTer23) n.206_228del n.231_253del c.114_136del (p.Ala39MetfsTer23) c.51_73del (p.Ala18MetfsTer23) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684120del | CA566531588 | CDKN1A | c.19del (p.Asp7MetfsTer24) n.213del n.238del c.121del (p.Asp41MetfsTer24) c.58del (p.Asp20MetfsTer24) | dbSNP gnomAD v2 |
6 | g.36684118G>A | CA363833699 | CDKN1A | c.17G>A (p.Gly6Glu) n.211G>A n.236G>A c.119G>A (p.Gly40Glu) c.56G>A (p.Gly19Glu) | |
6 | g.36684118G>C | CA363833700 | CDKN1A | c.17G>C (p.Gly6Ala) n.211G>C n.236G>C c.119G>C (p.Gly40Ala) c.56G>C (p.Gly19Ala) | dbSNP |
6 | g.36684118G= | CA1621456877 | CDKN1A | c.17G= (p.Gly6=) n.211G= n.236G= c.119G= (p.Gly40=) c.56G= (p.Gly19=) | |
6 | g.36684118G>T | CA3780304 | CDKN1A | c.17G>T (p.Gly6Val) n.211G>T n.236G>T c.119G>T (p.Gly40Val) c.56G>T (p.Gly19Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684119G>A | CA449975816 | CDKN1A | c.18G>A (p.Gly6=) n.212G>A n.237G>A c.120G>A (p.Gly40=) c.57G>A (p.Gly19=) | |
6 | g.36684119G>C | CA449975817 | CDKN1A | c.18G>C (p.Gly6=) n.212G>C n.237G>C c.120G>C (p.Gly40=) c.57G>C (p.Gly19=) | |
6 | g.36684119G>T | CA449975818 | CDKN1A | c.18G>T (p.Gly6=) n.212G>T n.237G>T c.120G>T (p.Gly40=) c.57G>T (p.Gly19=) | |
6 | g.36684120G>A | CA363833701 | CDKN1A | c.19G>A (p.Asp7Asn) n.213G>A n.238G>A c.121G>A (p.Asp41Asn) c.58G>A (p.Asp20Asn) | dbSNP |
6 | g.36684120G>C | CA363833703 | CDKN1A | c.19G>C (p.Asp7His) n.213G>C n.238G>C c.121G>C (p.Asp41His) c.58G>C (p.Asp20His) | |
6 | g.36684120G>T | CA363833704 | CDKN1A | c.19G>T (p.Asp7Tyr) n.213G>T n.238G>T c.121G>T (p.Asp41Tyr) c.58G>T (p.Asp20Tyr) | gnomAD v4 |
6 | g.36684121A>C | CA363833710 | CDKN1A | c.20A>C (p.Asp7Ala) n.214A>C n.239A>C c.122A>C (p.Asp41Ala) c.59A>C (p.Asp20Ala) | |
6 | g.36684121A>G | CA363833712 | CDKN1A | c.20A>G (p.Asp7Gly) n.214A>G n.239A>G c.122A>G (p.Asp41Gly) c.59A>G (p.Asp20Gly) | dbSNP |
6 | g.36684121A>T | CA363833715 | CDKN1A | c.20A>T (p.Asp7Val) n.214A>T n.239A>T c.122A>T (p.Asp41Val) c.59A>T (p.Asp20Val) | |
6 | g.36684122T>A | CA363833718 | CDKN1A | c.21T>A (p.Asp7Glu) n.215T>A n.240T>A c.123T>A (p.Asp41Glu) c.60T>A (p.Asp20Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684122T>C | CA449975819 | CDKN1A | c.21T>C (p.Asp7=) n.215T>C n.240T>C c.123T>C (p.Asp41=) c.60T>C (p.Asp20=) | gnomAD v4 |
6 | g.36684122T>G | CA363833720 | CDKN1A | c.21T>G (p.Asp7Glu) n.215T>G n.240T>G c.123T>G (p.Asp41Glu) c.60T>G (p.Asp20Glu) | |
6 | g.36684122T= | CA1621456878 | CDKN1A | c.21T= (p.Asp7=) n.215T= n.240T= c.123T= (p.Asp41=) c.60T= (p.Asp20=) | |
6 | g.36684123G>A | CA363833723 | CDKN1A | c.22G>A (p.Val8Ile) n.216G>A n.241G>A c.124G>A (p.Val42Ile) c.61G>A (p.Val21Ile) | dbSNP |
6 | g.36684123G>C | CA363833725 | CDKN1A | c.22G>C (p.Val8Leu) n.216G>C n.241G>C c.124G>C (p.Val42Leu) c.61G>C (p.Val21Leu) | |
6 | g.36684123G>T | CA363833727 | CDKN1A | c.22G>T (p.Val8Phe) n.216G>T n.241G>T c.124G>T (p.Val42Phe) c.61G>T (p.Val21Phe) | |
6 | g.36684126_36684129del | CA645558385 | CDKN1A | c.25_28del (p.Gln10ThrfsTer20) n.219_222del n.244_247del c.127_130del (p.Gln44ThrfsTer20) c.64_67del (p.Gln23ThrfsTer20) | COSMIC |
6 | g.36684124T>A | CA363833728 | CDKN1A | c.23T>A (p.Val8Asp) n.217T>A n.242T>A c.125T>A (p.Val42Asp) c.62T>A (p.Val21Asp) | |
6 | g.36684124T>C | CA363833730 | CDKN1A | c.23T>C (p.Val8Ala) n.217T>C n.242T>C c.125T>C (p.Val42Ala) c.62T>C (p.Val21Ala) | dbSNP |
6 | g.36684124T>G | CA363833731 | CDKN1A | c.23T>G (p.Val8Gly) n.217T>G n.242T>G c.125T>G (p.Val42Gly) c.62T>G (p.Val21Gly) | |
6 | g.36684125C>A | CA449975823 | CDKN1A | c.24C>A (p.Val8=) n.218C>A n.243C>A c.126C>A (p.Val42=) c.63C>A (p.Val21=) | |
6 | g.36684125C>G | CA449975824 | CDKN1A | c.24C>G (p.Val8=) n.218C>G n.243C>G c.126C>G (p.Val42=) c.63C>G (p.Val21=) | |
6 | g.36684125C>T | CA449975825 | CDKN1A | c.24C>T (p.Val8=) n.218C>T n.243C>T c.126C>T (p.Val42=) c.63C>T (p.Val21=) | gnomAD v4 |
6 | g.36684126C>A | CA363833732 | CDKN1A | c.25C>A (p.Arg9Ser) n.219C>A n.244C>A c.127C>A (p.Arg43Ser) c.64C>A (p.Arg22Ser) | |
6 | g.36684126C= | CA1621456879 | CDKN1A | c.25C= (p.Arg9=) n.219C= n.244C= c.127C= (p.Arg43=) c.64C= (p.Arg22=) | |
6 | g.36684126C>G | CA363833734 | CDKN1A | c.25C>G (p.Arg9Gly) n.219C>G n.244C>G c.127C>G (p.Arg43Gly) c.64C>G (p.Arg22Gly) | dbSNP |
6 | g.36684126C>T | CA3780305 | CDKN1A | c.25C>T (p.Arg9Cys) n.219C>T n.244C>T c.127C>T (p.Arg43Cys) c.64C>T (p.Arg22Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684127G>A | CA3780306 | CDKN1A | c.26G>A (p.Arg9His) n.220G>A n.245G>A c.128G>A (p.Arg43His) c.65G>A (p.Arg22His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684127G>C | CA363833737 | CDKN1A | c.26G>C (p.Arg9Pro) n.220G>C n.245G>C c.128G>C (p.Arg43Pro) c.65G>C (p.Arg22Pro) | dbSNP COSMIC COSMIC |
6 | g.36684127G= | CA1621456880 | CDKN1A | c.26G= (p.Arg9=) n.220G= n.245G= c.128G= (p.Arg43=) c.65G= (p.Arg22=) | |
6 | g.36684127G>T | CA363833740 | CDKN1A | c.26G>T (p.Arg9Leu) n.220G>T n.245G>T c.128G>T (p.Arg43Leu) c.65G>T (p.Arg22Leu) | gnomAD v4 |
6 | g.36684128T>A | CA449975830 | CDKN1A | c.27T>A (p.Arg9=) n.221T>A n.246T>A c.129T>A (p.Arg43=) c.66T>A (p.Arg22=) | dbSNP |
6 | g.36684128T>C | CA449975831 | CDKN1A | c.27T>C (p.Arg9=) n.221T>C n.246T>C c.129T>C (p.Arg43=) c.66T>C (p.Arg22=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684128T>G | CA449975832 | CDKN1A | c.27T>G (p.Arg9=) n.221T>G n.246T>G c.129T>G (p.Arg43=) c.66T>G (p.Arg22=) | |
6 | g.36684128T= | CA1621456881 | CDKN1A | c.27T= (p.Arg9=) n.221T= n.246T= c.129T= (p.Arg43=) c.66T= (p.Arg22=) | |
6 | g.36684129C>A | CA363833743 | CDKN1A | c.28C>A (p.Gln10Lys) n.222C>A n.247C>A c.130C>A (p.Gln44Lys) c.67C>A (p.Gln23Lys) | |
6 | g.36684129C>G | CA363833745 | CDKN1A | c.28C>G (p.Gln10Glu) n.222C>G n.247C>G c.130C>G (p.Gln44Glu) c.67C>G (p.Gln23Glu) | |
6 | g.36684129C>T | CA363833742 | CDKN1A | c.28C>T (p.Gln10Ter) n.222C>T n.247C>T c.130C>T (p.Gln44Ter) c.67C>T (p.Gln23Ter) | COSMIC COSMIC |
6 | g.36684130A>C | CA363833746 | CDKN1A | c.29A>C (p.Gln10Pro) n.223A>C n.248A>C c.131A>C (p.Gln44Pro) c.68A>C (p.Gln23Pro) | |
6 | g.36684130A>G | CA363833747 | CDKN1A | c.29A>G (p.Gln10Arg) n.223A>G n.248A>G c.131A>G (p.Gln44Arg) c.68A>G (p.Gln23Arg) | gnomAD v4 |
6 | g.36684130A>T | CA363833749 | CDKN1A | c.29A>T (p.Gln10Leu) n.223A>T n.248A>T c.131A>T (p.Gln44Leu) c.68A>T (p.Gln23Leu) | |
6 | g.36684131G>A | CA449975833 | CDKN1A | c.30G>A (p.Gln10=) n.224G>A n.249G>A c.132G>A (p.Gln44=) c.69G>A (p.Gln23=) | dbSNP |
6 | g.36684131G>C | CA363833750 | CDKN1A | c.30G>C (p.Gln10His) n.224G>C n.249G>C c.132G>C (p.Gln44His) c.69G>C (p.Gln23His) | |
6 | g.36684131G>T | CA363833752 | CDKN1A | c.30G>T (p.Gln10His) n.224G>T n.249G>T c.132G>T (p.Gln44His) c.69G>T (p.Gln23His) | |
6 | g.36684132A>C | CA363833757 | CDKN1A | c.31A>C (p.Asn11His) n.225A>C n.250A>C c.133A>C (p.Asn45His) c.70A>C (p.Asn24His) | |
6 | g.36684132A>G | CA363833754 | CDKN1A | c.31A>G (p.Asn11Asp) n.225A>G n.250A>G c.133A>G (p.Asn45Asp) c.70A>G (p.Asn24Asp) | |
6 | g.36684132A>T | CA363833755 | CDKN1A | c.31A>T (p.Asn11Tyr) n.225A>T n.250A>T c.133A>T (p.Asn45Tyr) c.70A>T (p.Asn24Tyr) | |
6 | g.36684133A= | CA1621456882 | CDKN1A | c.32A= (p.Asn11=) n.226A= n.251A= c.134A= (p.Asn45=) c.71A= (p.Asn24=) | |
6 | g.36684133A>C | CA363833759 | CDKN1A | c.32A>C (p.Asn11Thr) n.226A>C n.251A>C c.134A>C (p.Asn45Thr) c.71A>C (p.Asn24Thr) | dbSNP |
6 | g.36684133A>G | CA363833760 | CDKN1A | c.32A>G (p.Asn11Ser) n.226A>G n.251A>G c.134A>G (p.Asn45Ser) c.71A>G (p.Asn24Ser) | |
6 | g.36684133A>T | CA363833762 | CDKN1A | c.32A>T (p.Asn11Ile) n.226A>T n.251A>T c.134A>T (p.Asn45Ile) c.71A>T (p.Asn24Ile) | |
6 | g.36684134C>A | CA363833763 | CDKN1A | c.33C>A (p.Asn11Lys) n.227C>A n.252C>A c.135C>A (p.Asn45Lys) c.72C>A (p.Asn24Lys) | gnomAD v4 |
6 | g.36684134C>G | CA363833764 | CDKN1A | c.33C>G (p.Asn11Lys) n.227C>G n.252C>G c.135C>G (p.Asn45Lys) c.72C>G (p.Asn24Lys) | |
6 | g.36684134C>T | CA449975836 | CDKN1A | c.33C>T (p.Asn11=) n.227C>T n.252C>T c.135C>T (p.Asn45=) c.72C>T (p.Asn24=) | gnomAD v4 |
6 | g.36684135C>A | CA363833768 | CDKN1A | c.34C>A (p.Pro12Thr) n.228C>A n.253C>A c.136C>A (p.Pro46Thr) c.73C>A (p.Pro25Thr) | |
6 | g.36684135C>G | CA363833767 | CDKN1A | c.34C>G (p.Pro12Ala) n.228C>G n.253C>G c.136C>G (p.Pro46Ala) c.73C>G (p.Pro25Ala) | |
6 | g.36684135C>T | CA363833766 | CDKN1A | c.34C>T (p.Pro12Ser) n.228C>T n.253C>T c.136C>T (p.Pro46Ser) c.73C>T (p.Pro25Ser) | |
6 | g.36684136_36684140del | CA645558386 | CDKN1A | c.35_39del (p.Pro12ArgfsTer22) n.229_233del n.254_258del c.137_141del (p.Pro46ArgfsTer22) c.74_78del (p.Pro25ArgfsTer22) | COSMIC COSMIC |
6 | g.36684136C>A | CA363833771 | CDKN1A | c.35C>A (p.Pro12Gln) n.229C>A n.254C>A c.137C>A (p.Pro46Gln) c.74C>A (p.Pro25Gln) | |
6 | g.36684136C>G | CA363833774 | CDKN1A | c.35C>G (p.Pro12Arg) n.229C>G n.254C>G c.137C>G (p.Pro46Arg) c.74C>G (p.Pro25Arg) | |
6 | g.36684136C>T | CA363833772 | CDKN1A | c.35C>T (p.Pro12Leu) n.229C>T n.254C>T c.137C>T (p.Pro46Leu) c.74C>T (p.Pro25Leu) | |
6 | g.36684137A>C | CA449975839 | CDKN1A | c.36A>C (p.Pro12=) n.230A>C n.255A>C c.138A>C (p.Pro46=) c.75A>C (p.Pro25=) | |
6 | g.36684137A>G | CA449975840 | CDKN1A | c.36A>G (p.Pro12=) n.230A>G n.255A>G c.138A>G (p.Pro46=) c.75A>G (p.Pro25=) | |
6 | g.36684137A>T | CA449975838 | CDKN1A | c.36A>T (p.Pro12=) n.230A>T n.255A>T c.138A>T (p.Pro46=) c.75A>T (p.Pro25=) | |
6 | g.36684138T>A | CA3780307 | CDKN1A | c.37T>A (p.Cys13Ser) n.231T>A n.256T>A c.139T>A (p.Cys47Ser) c.76T>A (p.Cys26Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684138T>C | CA3780308 | CDKN1A | c.37T>C (p.Cys13Arg) n.231T>C n.256T>C c.139T>C (p.Cys47Arg) c.76T>C (p.Cys26Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684138T>G | CA363833776 | CDKN1A | c.37T>G (p.Cys13Gly) n.231T>G n.256T>G c.139T>G (p.Cys47Gly) c.76T>G (p.Cys26Gly) | dbSNP |
6 | g.36684138T= | CA1621456883 | CDKN1A | c.37T= (p.Cys13=) n.231T= n.256T= c.139T= (p.Cys47=) c.76T= (p.Cys26=) | |
6 | g.36684139G>A | CA363833777 | CDKN1A | c.38G>A (p.Cys13Tyr) n.232G>A n.257G>A c.140G>A (p.Cys47Tyr) c.77G>A (p.Cys26Tyr) | gnomAD v4 |
6 | g.36684139G>C | CA363833779 | CDKN1A | c.38G>C (p.Cys13Ser) n.232G>C n.257G>C c.140G>C (p.Cys47Ser) c.77G>C (p.Cys26Ser) | |
6 | g.36684139G>T | CA363833778 | CDKN1A | c.38G>T (p.Cys13Phe) n.232G>T n.257G>T c.140G>T (p.Cys47Phe) c.77G>T (p.Cys26Phe) | |
6 | g.36684140C>A | CA3780310 | CDKN1A | c.39C>A (p.Cys13Ter) n.233C>A n.258C>A c.141C>A (p.Cys47Ter) c.78C>A (p.Cys26Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684140C= | CA1621456884 | CDKN1A | c.39C= (p.Cys13=) n.233C= n.258C= c.141C= (p.Cys47=) c.78C= (p.Cys26=) | |
6 | g.36684140C>G | CA363833781 | CDKN1A | c.39C>G (p.Cys13Trp) n.233C>G n.258C>G c.141C>G (p.Cys47Trp) c.78C>G (p.Cys26Trp) | dbSNP |
6 | g.36684140C>T | CA3780309 | CDKN1A | c.39C>T (p.Cys13=) n.233C>T n.258C>T c.141C>T (p.Cys47=) c.78C>T (p.Cys26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684141G>A | CA3780311 | CDKN1A | c.40G>A (p.Gly14Ser) n.234G>A n.259G>A c.142G>A (p.Gly48Ser) c.79G>A (p.Gly27Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684141G>C | CA363833784 | CDKN1A | c.40G>C (p.Gly14Arg) n.234G>C n.259G>C c.142G>C (p.Gly48Arg) c.79G>C (p.Gly27Arg) | dbSNP |
6 | g.36684141G= | CA1621456885 | CDKN1A | c.40G= (p.Gly14=) n.234G= n.259G= c.142G= (p.Gly48=) c.79G= (p.Gly27=) | |
6 | g.36684141G>T | CA363833785 | CDKN1A | c.40G>T (p.Gly14Cys) n.234G>T n.259G>T c.142G>T (p.Gly48Cys) c.79G>T (p.Gly27Cys) | dbSNP |
6 | g.36684142G>A | CA363833787 | CDKN1A | c.41G>A (p.Gly14Asp) n.235G>A n.260G>A c.143G>A (p.Gly48Asp) c.80G>A (p.Gly27Asp) | dbSNP COSMIC COSMIC |
6 | g.36684142G>C | CA363833789 | CDKN1A | c.41G>C (p.Gly14Ala) n.235G>C n.260G>C c.143G>C (p.Gly48Ala) c.80G>C (p.Gly27Ala) | dbSNP |
6 | g.36684142G>T | CA363833794 | CDKN1A | c.41G>T (p.Gly14Val) n.235G>T n.260G>T c.143G>T (p.Gly48Val) c.80G>T (p.Gly27Val) | dbSNP gnomAD v4 |
6 | g.36684143C>A | CA449975843 | CDKN1A | c.42C>A (p.Gly14=) n.236C>A n.261C>A c.144C>A (p.Gly48=) c.81C>A (p.Gly27=) | dbSNP |
6 | g.36684143C>G | CA449975845 | CDKN1A | c.42C>G (p.Gly14=) n.236C>G n.261C>G c.144C>G (p.Gly48=) c.81C>G (p.Gly27=) | dbSNP |
6 | g.36684143C>T | CA449975844 | CDKN1A | c.42C>T (p.Gly14=) n.236C>T n.261C>T c.144C>T (p.Gly48=) c.81C>T (p.Gly27=) | dbSNP gnomAD v4 |
6 | g.36684144A= | CA1621456886 | CDKN1A | c.43A= (p.Ser15=) n.237A= n.262A= c.145A= (p.Ser49=) c.82A= (p.Ser28=) | |
6 | g.36684144A>C | CA363833796 | CDKN1A | c.43A>C (p.Ser15Arg) n.237A>C n.262A>C c.145A>C (p.Ser49Arg) c.82A>C (p.Ser28Arg) | |
6 | g.36684144A>G | CA363833798 | CDKN1A | c.43A>G (p.Ser15Gly) n.237A>G n.262A>G c.145A>G (p.Ser49Gly) c.82A>G (p.Ser28Gly) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684144A>T | CA363833799 | CDKN1A | c.43A>T (p.Ser15Cys) n.237A>T n.262A>T c.145A>T (p.Ser49Cys) c.82A>T (p.Ser28Cys) | |
6 | g.36684145G>A | CA137422720 | CDKN1A | c.44G>A (p.Ser15Asn) n.238G>A n.263G>A c.146G>A (p.Ser49Asn) c.83G>A (p.Ser28Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684145G>C | CA363833801 | CDKN1A | c.44G>C (p.Ser15Thr) n.238G>C n.263G>C c.146G>C (p.Ser49Thr) c.83G>C (p.Ser28Thr) | dbSNP |
6 | g.36684145G= | CA1621456887 | CDKN1A | c.44G= (p.Ser15=) n.238G= n.263G= c.146G= (p.Ser49=) c.83G= (p.Ser28=) | |
6 | g.36684145G>T | CA363833803 | CDKN1A | c.44G>T (p.Ser15Ile) n.238G>T n.263G>T c.146G>T (p.Ser49Ile) c.83G>T (p.Ser28Ile) | |
6 | g.36684145_36684161del | CA645558387 | CDKN1A | c.44_60del (p.Ser15ThrfsTer15) n.238_254del n.263_279del c.146_162del (p.Ser49ThrfsTer15) c.83_99del (p.Ser28ThrfsTer15) | COSMIC |
6 | g.36684146C>A | CA363833806 | CDKN1A | c.45C>A (p.Ser15Arg) n.239C>A n.264C>A c.147C>A (p.Ser49Arg) c.84C>A (p.Ser28Arg) | |
6 | g.36684146C>G | CA363833807 | CDKN1A | c.45C>G (p.Ser15Arg) n.239C>G n.264C>G c.147C>G (p.Ser49Arg) c.84C>G (p.Ser28Arg) | |
6 | g.36684146C>T | CA449975847 | CDKN1A | c.45C>T (p.Ser15=) n.239C>T n.264C>T c.147C>T (p.Ser49=) c.84C>T (p.Ser28=) | dbSNP |
6 | g.36684146_36684147delinsCA | CA1621456888 | CDKN1A | c.45_46delinsCA (p.Ser15=) n.239_240delinsCA n.264_265delinsCA c.147_148delinsCA (p.Ser49=) c.84_85delinsCA (p.Ser28=) | |
6 | g.36684147A>C | CA363833809 | CDKN1A | c.46A>C (p.Lys16Gln) n.240A>C n.265A>C c.148A>C (p.Lys50Gln) c.85A>C (p.Lys29Gln) | |
6 | g.36684147A>G | CA363833811 | CDKN1A | c.46A>G (p.Lys16Glu) n.240A>G n.265A>G c.148A>G (p.Lys50Glu) c.85A>G (p.Lys29Glu) | gnomAD v4 |
6 | g.36684147A>T | CA363833813 | CDKN1A | c.46A>T (p.Lys16Ter) n.240A>T n.265A>T c.148A>T (p.Lys50Ter) c.85A>T (p.Lys29Ter) | dbSNP |
6 | g.36684148del | CA566531611 | CDKN1A | c.47del (p.Lys16ArgfsTer15) n.241del n.266del c.149del (p.Lys50ArgfsTer15) c.86del (p.Lys29ArgfsTer15) | dbSNP gnomAD v2 |
6 | g.36684147_36684150del | CA645558388 | CDKN1A | c.46_49del (p.Lys16ProfsTer14) n.240_243del n.265_268del c.148_151del (p.Lys50ProfsTer14) c.85_88del (p.Lys29ProfsTer14) | COSMIC COSMIC |
6 | g.36684148A= | CA1621456889 | CDKN1A | c.47A= (p.Lys16=) n.241A= n.266A= c.149A= (p.Lys50=) c.86A= (p.Lys29=) | |
6 | g.36684148A>C | CA363833814 | CDKN1A | c.47A>C (p.Lys16Thr) n.241A>C n.266A>C c.149A>C (p.Lys50Thr) c.86A>C (p.Lys29Thr) | |
6 | g.36684148A>G | CA363833816 | CDKN1A | c.47A>G (p.Lys16Arg) n.241A>G n.266A>G c.149A>G (p.Lys50Arg) c.86A>G (p.Lys29Arg) | dbSNP gnomAD v2 |
6 | g.36684148A>T | CA363833817 | CDKN1A | c.47A>T (p.Lys16Met) n.241A>T n.266A>T c.149A>T (p.Lys50Met) c.86A>T (p.Lys29Met) | |
6 | g.36684148_36684171del | CA645558389 | CDKN1A | c.47_70del (p.Lys16_Pro24delinsThr) n.241_264del n.266_289del c.149_172del (p.Lys50_Pro58delinsThr) c.86_109del (p.Lys29_Pro37delinsThr) | COSMIC COSMIC |
6 | g.36684149G>A | CA449975849 | CDKN1A | c.48G>A (p.Lys16=) n.242G>A n.267G>A c.150G>A (p.Lys50=) c.87G>A (p.Lys29=) | gnomAD v4 |
6 | g.36684149G>C | CA363833819 | CDKN1A | c.48G>C (p.Lys16Asn) n.242G>C n.267G>C c.150G>C (p.Lys50Asn) c.87G>C (p.Lys29Asn) | dbSNP |
6 | g.36684149G= | CA1621456890 | CDKN1A | c.48G= (p.Lys16=) n.242G= n.267G= c.150G= (p.Lys50=) c.87G= (p.Lys29=) | |
6 | g.36684149G>T | CA363833821 | CDKN1A | c.48G>T (p.Lys16Asn) n.242G>T n.267G>T c.150G>T (p.Lys50Asn) c.87G>T (p.Lys29Asn) | |
6 | g.36684149_36684152del | CA645558390 | CDKN1A | c.48_51del (p.Lys16AsnfsTer14) n.242_245del n.267_270del c.150_153del (p.Lys50AsnfsTer14) c.87_90del (p.Lys29AsnfsTer14) | COSMIC |
6 | g.36684150G>A | CA363833826 | CDKN1A | c.49G>A (p.Ala17Thr) n.243G>A n.268G>A c.151G>A (p.Ala51Thr) c.88G>A (p.Ala30Thr) | dbSNP |
6 | g.36684150G>C | CA363833824 | CDKN1A | c.49G>C (p.Ala17Pro) n.243G>C n.268G>C c.151G>C (p.Ala51Pro) c.88G>C (p.Ala30Pro) | dbSNP |
6 | g.36684150G>T | CA363833822 | CDKN1A | c.49G>T (p.Ala17Ser) n.243G>T n.268G>T c.151G>T (p.Ala51Ser) c.88G>T (p.Ala30Ser) | dbSNP gnomAD v4 |
6 | g.36684151C>A | CA363833827 | CDKN1A | c.50C>A (p.Ala17Asp) n.244C>A n.269C>A c.152C>A (p.Ala51Asp) c.89C>A (p.Ala30Asp) | |
6 | g.36684151C>G | CA363833829 | CDKN1A | c.50C>G (p.Ala17Gly) n.244C>G n.269C>G c.152C>G (p.Ala51Gly) c.89C>G (p.Ala30Gly) | gnomAD v4 |
6 | g.36684151C>T | CA363833830 | CDKN1A | c.50C>T (p.Ala17Val) n.244C>T n.269C>T c.152C>T (p.Ala51Val) c.89C>T (p.Ala30Val) | |
6 | g.36684152C>A | CA449975850 | CDKN1A | c.51C>A (p.Ala17=) n.245C>A n.270C>A c.153C>A (p.Ala51=) c.90C>A (p.Ala30=) | |
6 | g.36684152C>G | CA449975851 | CDKN1A | c.51C>G (p.Ala17=) n.245C>G n.270C>G c.153C>G (p.Ala51=) c.90C>G (p.Ala30=) | |
6 | g.36684152C>T | CA449975853 | CDKN1A | c.51C>T (p.Ala17=) n.245C>T n.270C>T c.153C>T (p.Ala51=) c.90C>T (p.Ala30=) | |
6 | g.36684153T>A | CA363833832 | CDKN1A | c.52T>A (p.Cys18Ser) n.246T>A n.271T>A c.154T>A (p.Cys52Ser) c.91T>A (p.Cys31Ser) | |
6 | g.36684153T>C | CA363833834 | CDKN1A | c.52T>C (p.Cys18Arg) n.246T>C n.271T>C c.154T>C (p.Cys52Arg) c.91T>C (p.Cys31Arg) | |
6 | g.36684153T>G | CA363833836 | CDKN1A | c.52T>G (p.Cys18Gly) n.246T>G n.271T>G c.154T>G (p.Cys52Gly) c.91T>G (p.Cys31Gly) | |
6 | g.36684153T= | CA1621456891 | CDKN1A | c.52T= (p.Cys18=) n.246T= n.271T= c.154T= (p.Cys52=) c.91T= (p.Cys31=) | |
6 | g.36684154G>A | CA363833837 | CDKN1A | c.53G>A (p.Cys18Tyr) n.247G>A n.272G>A c.155G>A (p.Cys52Tyr) c.92G>A (p.Cys31Tyr) | dbSNP gnomAD v2 |
6 | g.36684154G>C | CA363833838 | CDKN1A | c.53G>C (p.Cys18Ser) n.247G>C n.272G>C c.155G>C (p.Cys52Ser) c.92G>C (p.Cys31Ser) | dbSNP |
6 | g.36684154G= | CA1621456892 | CDKN1A | c.53G= (p.Cys18=) n.247G= n.272G= c.155G= (p.Cys52=) c.92G= (p.Cys31=) | |
6 | g.36684154G>T | CA363833840 | CDKN1A | c.53G>T (p.Cys18Phe) n.247G>T n.272G>T c.155G>T (p.Cys52Phe) c.92G>T (p.Cys31Phe) | |
6 | g.36684160_36684162dup | CA566531617 | CDKN1A | c.59_61dup (p.Arg20_Leu21insArg) n.253_255dup n.278_280dup c.161_163dup (p.Arg54_Leu55insArg) c.98_100dup (p.Arg33_Leu34insArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684155C>A | CA363833842 | CDKN1A | c.54C>A (p.Cys18Ter) n.248C>A n.273C>A c.156C>A (p.Cys52Ter) c.93C>A (p.Cys31Ter) | dbSNP |
6 | g.36684155C= | CA1621456893 | CDKN1A | c.54C= (p.Cys18=) n.248C= n.273C= c.156C= (p.Cys52=) c.93C= (p.Cys31=) | |
6 | g.36684155C>G | CA363833844 | CDKN1A | c.54C>G (p.Cys18Trp) n.248C>G n.273C>G c.156C>G (p.Cys52Trp) c.93C>G (p.Cys31Trp) | dbSNP |
6 | g.36684155C>T | CA449975854 | CDKN1A | c.54C>T (p.Cys18=) n.248C>T n.273C>T c.156C>T (p.Cys52=) c.93C>T (p.Cys31=) | dbSNP gnomAD v4 |
6 | g.36684156_36684159del | CA2766290625 | CDKN1A | c.55_58del (p.Arg19AlafsTer11) n.249_252del n.274_277del c.157_160del (p.Arg53AlafsTer11) c.94_97del (p.Arg32AlafsTer11) | |
6 | g.36684156C>A | CA363833848 | CDKN1A | c.55C>A (p.Arg19Ser) n.249C>A n.274C>A c.157C>A (p.Arg53Ser) c.94C>A (p.Arg32Ser) | |
6 | g.36684156C= | CA1621456894 | CDKN1A | c.55C= (p.Arg19=) n.249C= n.274C= c.157C= (p.Arg53=) c.94C= (p.Arg32=) | |
6 | g.36684156C>G | CA363833846 | CDKN1A | c.55C>G (p.Arg19Gly) n.249C>G n.274C>G c.157C>G (p.Arg53Gly) c.94C>G (p.Arg32Gly) | |
6 | g.36684156C>T | CA3780312 | CDKN1A | c.55C>T (p.Arg19Cys) n.249C>T n.274C>T c.157C>T (p.Arg53Cys) c.94C>T (p.Arg32Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684157G>A | CA3780313 | CDKN1A | c.56G>A (p.Arg19His) n.250G>A n.275G>A c.158G>A (p.Arg53His) c.95G>A (p.Arg32His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684157G>C | CA363833850 | CDKN1A | c.56G>C (p.Arg19Pro) n.250G>C n.275G>C c.158G>C (p.Arg53Pro) c.95G>C (p.Arg32Pro) | dbSNP |
6 | g.36684157G= | CA1621456895 | CDKN1A | c.56G= (p.Arg19=) n.250G= n.275G= c.158G= (p.Arg53=) c.95G= (p.Arg32=) | |
6 | g.36684157G>T | CA363833852 | CDKN1A | c.56G>T (p.Arg19Leu) n.250G>T n.275G>T c.158G>T (p.Arg53Leu) c.95G>T (p.Arg32Leu) | dbSNP |
6 | g.36684158C>A | CA449975856 | CDKN1A | c.57C>A (p.Arg19=) n.251C>A n.276C>A c.159C>A (p.Arg53=) c.96C>A (p.Arg32=) | |
6 | g.36684158C= | CA1621456896 | CDKN1A | c.57C= (p.Arg19=) n.251C= n.276C= c.159C= (p.Arg53=) c.96C= (p.Arg32=) | |
6 | g.36684158C>G | CA449975858 | CDKN1A | c.57C>G (p.Arg19=) n.251C>G n.276C>G c.159C>G (p.Arg53=) c.96C>G (p.Arg32=) | |
6 | g.36684158C>T | CA449975857 | CDKN1A | c.57C>T (p.Arg19=) n.251C>T n.276C>T c.159C>T (p.Arg53=) c.96C>T (p.Arg32=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684159C>A | CA363833854 | CDKN1A | c.58C>A (p.Arg20Ser) n.252C>A n.277C>A c.160C>A (p.Arg54Ser) c.97C>A (p.Arg33Ser) | |
6 | g.36684159C= | CA1621456897 | CDKN1A | c.58C= (p.Arg20=) n.252C= n.277C= c.160C= (p.Arg54=) c.97C= (p.Arg33=) | |
6 | g.36684159C>G | CA363833856 | CDKN1A | c.58C>G (p.Arg20Gly) n.252C>G n.277C>G c.160C>G (p.Arg54Gly) c.97C>G (p.Arg33Gly) | |
6 | g.36684159C>T | CA3780314 | CDKN1A | c.58C>T (p.Arg20Cys) n.252C>T n.277C>T c.160C>T (p.Arg54Cys) c.97C>T (p.Arg33Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684160G>A | CA3780315 | CDKN1A | c.59G>A (p.Arg20His) n.253G>A n.278G>A c.161G>A (p.Arg54His) c.98G>A (p.Arg33His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684160G>C | CA137422746 | CDKN1A | c.59G>C (p.Arg20Pro) n.253G>C n.278G>C c.161G>C (p.Arg54Pro) c.98G>C (p.Arg33Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684160G= | CA1621456898 | CDKN1A | c.59G= (p.Arg20=) n.253G= n.278G= c.161G= (p.Arg54=) c.98G= (p.Arg33=) | |
6 | g.36684160G>T | CA363833857 | CDKN1A | c.59G>T (p.Arg20Leu) n.253G>T n.278G>T c.161G>T (p.Arg54Leu) c.98G>T (p.Arg33Leu) | dbSNP gnomAD v4 |
6 | g.36684161C>A | CA449975860 | CDKN1A | c.60C>A (p.Arg20=) n.254C>A n.279C>A c.162C>A (p.Arg54=) c.99C>A (p.Arg33=) | |
6 | g.36684161C= | CA1621456899 | CDKN1A | c.60C= (p.Arg20=) n.254C= n.279C= c.162C= (p.Arg54=) c.99C= (p.Arg33=) | |
6 | g.36684161C>G | CA449975861 | CDKN1A | c.60C>G (p.Arg20=) n.254C>G n.279C>G c.162C>G (p.Arg54=) c.99C>G (p.Arg33=) | dbSNP |
6 | g.36684161C>T | CA449975862 | CDKN1A | c.60C>T (p.Arg20=) n.254C>T n.279C>T c.162C>T (p.Arg54=) c.99C>T (p.Arg33=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684162C>A | CA363833858 | CDKN1A | c.61C>A (p.Leu21Ile) n.255C>A n.280C>A c.163C>A (p.Leu55Ile) c.100C>A (p.Leu34Ile) | dbSNP |
6 | g.36684162C>G | CA363833859 | CDKN1A | c.61C>G (p.Leu21Val) n.255C>G n.280C>G c.163C>G (p.Leu55Val) c.100C>G (p.Leu34Val) | dbSNP |
6 | g.36684162C>T | CA363833860 | CDKN1A | c.61C>T (p.Leu21Phe) n.255C>T n.280C>T c.163C>T (p.Leu55Phe) c.100C>T (p.Leu34Phe) | dbSNP COSMIC COSMIC |
6 | g.36684163T>A | CA363833866 | CDKN1A | c.62T>A (p.Leu21His) n.256T>A n.281T>A c.164T>A (p.Leu55His) c.101T>A (p.Leu34His) | dbSNP gnomAD v4 |
6 | g.36684163T>C | CA363833864 | CDKN1A | c.62T>C (p.Leu21Pro) n.256T>C n.281T>C c.164T>C (p.Leu55Pro) c.101T>C (p.Leu34Pro) | dbSNP |
6 | g.36684163T>G | CA363833862 | CDKN1A | c.62T>G (p.Leu21Arg) n.256T>G n.281T>G c.164T>G (p.Leu55Arg) c.101T>G (p.Leu34Arg) | |
6 | g.36684164C>A | CA449975863 | CDKN1A | c.63C>A (p.Leu21=) n.257C>A n.282C>A c.165C>A (p.Leu55=) c.102C>A (p.Leu34=) | |
6 | g.36684164C= | CA1621456900 | CDKN1A | c.63C= (p.Leu21=) n.257C= n.282C= c.165C= (p.Leu55=) c.102C= (p.Leu34=) | |
6 | g.36684164C>G | CA449975864 | CDKN1A | c.63C>G (p.Leu21=) n.257C>G n.282C>G c.165C>G (p.Leu55=) c.102C>G (p.Leu34=) | dbSNP |
6 | g.36684164C>T | CA3780316 | CDKN1A | c.63C>T (p.Leu21=) n.257C>T n.282C>T c.165C>T (p.Leu55=) c.102C>T (p.Leu34=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684165T>A | CA363833880 | CDKN1A | c.64T>A (p.Phe22Ile) n.258T>A n.283T>A c.166T>A (p.Phe56Ile) c.103T>A (p.Phe35Ile) | dbSNP |
6 | g.36684165T>C | CA363833876 | CDKN1A | c.64T>C (p.Phe22Leu) n.258T>C n.283T>C c.166T>C (p.Phe56Leu) c.103T>C (p.Phe35Leu) | dbSNP |
6 | g.36684165T>G | CA363833878 | CDKN1A | c.64T>G (p.Phe22Val) n.258T>G n.283T>G c.166T>G (p.Phe56Val) c.103T>G (p.Phe35Val) | |
6 | g.36684166T>A | CA363833882 | CDKN1A | c.65T>A (p.Phe22Tyr) n.259T>A n.284T>A c.167T>A (p.Phe56Tyr) c.104T>A (p.Phe35Tyr) | |
6 | g.36684166T>C | CA363833884 | CDKN1A | c.65T>C (p.Phe22Ser) n.259T>C n.284T>C c.167T>C (p.Phe56Ser) c.104T>C (p.Phe35Ser) | dbSNP |
6 | g.36684166T>G | CA363833885 | CDKN1A | c.65T>G (p.Phe22Cys) n.259T>G n.284T>G c.167T>G (p.Phe56Cys) c.104T>G (p.Phe35Cys) | |
6 | g.36684166T= | CA1621456901 | CDKN1A | c.65T= (p.Phe22=) n.259T= n.284T= c.167T= (p.Phe56=) c.104T= (p.Phe35=) | |
6 | g.36684167C>A | CA363833887 | CDKN1A | c.66C>A (p.Phe22Leu) n.260C>A n.285C>A c.168C>A (p.Phe56Leu) c.105C>A (p.Phe35Leu) | dbSNP gnomAD v4 |
6 | g.36684167C= | CA1621456902 | CDKN1A | c.66C= (p.Phe22=) n.260C= n.285C= c.168C= (p.Phe56=) c.105C= (p.Phe35=) | |
6 | g.36684167C>G | CA363833889 | CDKN1A | c.66C>G (p.Phe22Leu) n.260C>G n.285C>G c.168C>G (p.Phe56Leu) c.105C>G (p.Phe35Leu) | |
6 | g.36684167C>T | CA3780317 | CDKN1A | c.66C>T (p.Phe22=) n.260C>T n.285C>T c.168C>T (p.Phe56=) c.105C>T (p.Phe35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684168G>A | CA3780318 | CDKN1A | c.67G>A (p.Gly23Ser) n.261G>A n.286G>A c.169G>A (p.Gly57Ser) c.106G>A (p.Gly36Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684168G>C | CA363833893 | CDKN1A | c.67G>C (p.Gly23Arg) n.261G>C n.286G>C c.169G>C (p.Gly57Arg) c.106G>C (p.Gly36Arg) | dbSNP gnomAD v4 |
6 | g.36684168G= | CA1621456903 | CDKN1A | c.67G= (p.Gly23=) n.261G= n.286G= c.169G= (p.Gly57=) c.106G= (p.Gly36=) | |
6 | g.36684168G>T | CA363833894 | CDKN1A | c.67G>T (p.Gly23Cys) n.261G>T n.286G>T c.169G>T (p.Gly57Cys) c.106G>T (p.Gly36Cys) | dbSNP gnomAD v4 |
6 | g.36684169G>A | CA3780319 | CDKN1A | c.68G>A (p.Gly23Asp) n.262G>A n.287G>A c.170G>A (p.Gly57Asp) c.107G>A (p.Gly36Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684169G>C | CA363833897 | CDKN1A | c.68G>C (p.Gly23Ala) n.262G>C n.287G>C c.170G>C (p.Gly57Ala) c.107G>C (p.Gly36Ala) | |
6 | g.36684169G= | CA1621456904 | CDKN1A | c.68G= (p.Gly23=) n.262G= n.287G= c.170G= (p.Gly57=) c.107G= (p.Gly36=) | |
6 | g.36684169G>T | CA363833896 | CDKN1A | c.68G>T (p.Gly23Val) n.262G>T n.287G>T c.170G>T (p.Gly57Val) c.107G>T (p.Gly36Val) | |
6 | g.36684170C>A | CA449975870 | CDKN1A | c.69C>A (p.Gly23=) n.263C>A n.288C>A c.171C>A (p.Gly57=) c.108C>A (p.Gly36=) | dbSNP gnomAD v4 |
6 | g.36684170C= | CA1621456905 | CDKN1A | c.69C= (p.Gly23=) n.263C= n.288C= c.171C= (p.Gly57=) c.108C= (p.Gly36=) | |
6 | g.36684170C>G | CA449975871 | CDKN1A | c.69C>G (p.Gly23=) n.263C>G n.288C>G c.171C>G (p.Gly57=) c.108C>G (p.Gly36=) | dbSNP |
6 | g.36684170C>T | CA449975872 | CDKN1A | c.69C>T (p.Gly23=) n.263C>T n.288C>T c.171C>T (p.Gly57=) c.108C>T (p.Gly36=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684171C>A | CA363833900 | CDKN1A | c.70C>A (p.Pro24Thr) n.264C>A n.289C>A c.172C>A (p.Pro58Thr) c.109C>A (p.Pro37Thr) | dbSNP gnomAD v4 |
6 | g.36684171C= | CA1621456906 | CDKN1A | c.70C= (p.Pro24=) n.264C= n.289C= c.172C= (p.Pro58=) c.109C= (p.Pro37=) | |
6 | g.36684171C>G | CA363833902 | CDKN1A | c.70C>G (p.Pro24Ala) n.264C>G n.289C>G c.172C>G (p.Pro58Ala) c.109C>G (p.Pro37Ala) | dbSNP |
6 | g.36684171C>T | CA363833904 | CDKN1A | c.70C>T (p.Pro24Ser) n.264C>T n.289C>T c.172C>T (p.Pro58Ser) c.109C>T (p.Pro37Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684172C>A | CA363833906 | CDKN1A | c.71C>A (p.Pro24Gln) n.265C>A n.290C>A c.173C>A (p.Pro58Gln) c.110C>A (p.Pro37Gln) | dbSNP |
6 | g.36684172C>G | CA363833907 | CDKN1A | c.71C>G (p.Pro24Arg) n.265C>G n.290C>G c.173C>G (p.Pro58Arg) c.110C>G (p.Pro37Arg) | gnomAD v4 |
6 | g.36684172C>T | CA363833909 | CDKN1A | c.71C>T (p.Pro24Leu) n.265C>T n.290C>T c.173C>T (p.Pro58Leu) c.110C>T (p.Pro37Leu) | dbSNP gnomAD v4 |
6 | g.36684173A>C | CA449975873 | CDKN1A | c.72A>C (p.Pro24=) n.266A>C n.291A>C c.174A>C (p.Pro58=) c.111A>C (p.Pro37=) | |
6 | g.36684173A>G | CA449975874 | CDKN1A | c.72A>G (p.Pro24=) n.266A>G n.291A>G c.174A>G (p.Pro58=) c.111A>G (p.Pro37=) | |
6 | g.36684173A>T | CA449975875 | CDKN1A | c.72A>T (p.Pro24=) n.266A>T n.291A>T c.174A>T (p.Pro58=) c.111A>T (p.Pro37=) | dbSNP |
6 | g.36684174G>A | CA363833911 | CDKN1A | c.73G>A (p.Val25Met) n.267G>A n.292G>A c.175G>A (p.Val59Met) c.112G>A (p.Val38Met) | dbSNP |
6 | g.36684174G>C | CA3780320 | CDKN1A | c.73G>C (p.Val25Leu) n.267G>C n.292G>C c.175G>C (p.Val59Leu) c.112G>C (p.Val38Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684174G= | CA1621456907 | CDKN1A | c.73G= (p.Val25=) n.267G= n.292G= c.175G= (p.Val59=) c.112G= (p.Val38=) | |
6 | g.36684174G>T | CA363833913 | CDKN1A | c.73G>T (p.Val25Leu) n.267G>T n.292G>T c.175G>T (p.Val59Leu) c.112G>T (p.Val38Leu) | gnomAD v4 |
6 | g.36684175T>A | CA363833914 | CDKN1A | c.74T>A (p.Val25Glu) n.268T>A n.293T>A c.176T>A (p.Val59Glu) c.113T>A (p.Val38Glu) | dbSNP |
6 | g.36684175T>C | CA363833915 | CDKN1A | c.74T>C (p.Val25Ala) n.268T>C n.293T>C c.176T>C (p.Val59Ala) c.113T>C (p.Val38Ala) | dbSNP gnomAD v4 |
6 | g.36684175T>G | CA3780321 | CDKN1A | c.74T>G (p.Val25Gly) n.268T>G n.293T>G c.176T>G (p.Val59Gly) c.113T>G (p.Val38Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684175T= | CA1621456908 | CDKN1A | c.74T= (p.Val25=) n.268T= n.293T= c.176T= (p.Val59=) c.113T= (p.Val38=) | |
6 | g.36684176G>A | CA449975880 | CDKN1A | c.75G>A (p.Val25=) n.269G>A n.294G>A c.177G>A (p.Val59=) c.114G>A (p.Val38=) | |
6 | g.36684176G>C | CA449975878 | CDKN1A | c.75G>C (p.Val25=) n.269G>C n.294G>C c.177G>C (p.Val59=) c.114G>C (p.Val38=) | dbSNP |
6 | g.36684176G>T | CA449975877 | CDKN1A | c.75G>T (p.Val25=) n.269G>T n.294G>T c.177G>T (p.Val59=) c.114G>T (p.Val38=) | dbSNP gnomAD v4 |
6 | g.36684177G>A | CA363833918 | CDKN1A | c.76G>A (p.Asp26Asn) n.270G>A n.295G>A c.178G>A (p.Asp60Asn) c.115G>A (p.Asp39Asn) | |
6 | g.36684177G>C | CA363833920 | CDKN1A | c.76G>C (p.Asp26His) n.270G>C n.295G>C c.178G>C (p.Asp60His) c.115G>C (p.Asp39His) | dbSNP |
6 | g.36684177G>T | CA363833916 | CDKN1A | c.76G>T (p.Asp26Tyr) n.270G>T n.295G>T c.178G>T (p.Asp60Tyr) c.115G>T (p.Asp39Tyr) | dbSNP gnomAD v4 |
6 | g.36684178A>C | CA363833922 | CDKN1A | c.77A>C (p.Asp26Ala) n.271A>C n.296A>C c.179A>C (p.Asp60Ala) c.116A>C (p.Asp39Ala) | gnomAD v4 |
6 | g.36684178A>G | CA363833923 | CDKN1A | c.77A>G (p.Asp26Gly) n.271A>G n.296A>G c.179A>G (p.Asp60Gly) c.116A>G (p.Asp39Gly) | dbSNP |
6 | g.36684178A>T | CA363833924 | CDKN1A | c.77A>T (p.Asp26Val) n.271A>T n.296A>T c.179A>T (p.Asp60Val) c.116A>T (p.Asp39Val) | dbSNP |
6 | g.36684179C>A | CA363833926 | CDKN1A | c.78C>A (p.Asp26Glu) n.272C>A n.297C>A c.180C>A (p.Asp60Glu) c.117C>A (p.Asp39Glu) | |
6 | g.36684179C>G | CA363833927 | CDKN1A | c.78C>G (p.Asp26Glu) n.272C>G n.297C>G c.180C>G (p.Asp60Glu) c.117C>G (p.Asp39Glu) | dbSNP |
6 | g.36684179C>T | CA449975888 | CDKN1A | c.78C>T (p.Asp26=) n.272C>T n.297C>T c.180C>T (p.Asp60=) c.117C>T (p.Asp39=) | dbSNP |
6 | g.36684180A= | CA1621456909 | CDKN1A | c.79A= (p.Ser27=) n.273A= n.298A= c.181A= (p.Ser61=) c.118A= (p.Ser40=) | |
6 | g.36684180A>C | CA363833931 | CDKN1A | c.79A>C (p.Ser27Arg) n.273A>C n.298A>C c.181A>C (p.Ser61Arg) c.118A>C (p.Ser40Arg) | |
6 | g.36684180A>G | CA3780322 | CDKN1A | c.79A>G (p.Ser27Gly) n.273A>G n.298A>G c.181A>G (p.Ser61Gly) c.118A>G (p.Ser40Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684180A>T | CA363833929 | CDKN1A | c.79A>T (p.Ser27Cys) n.273A>T n.298A>T c.181A>T (p.Ser61Cys) c.118A>T (p.Ser40Cys) | dbSNP |
6 | g.36684181G>A | CA363833933 | CDKN1A | c.80G>A (p.Ser27Asn) n.274G>A n.299G>A c.182G>A (p.Ser61Asn) c.119G>A (p.Ser40Asn) | dbSNP |
6 | g.36684181G>C | CA363833934 | CDKN1A | c.80G>C (p.Ser27Thr) n.274G>C n.299G>C c.182G>C (p.Ser61Thr) c.119G>C (p.Ser40Thr) | dbSNP |
6 | g.36684181G= | CA1621456910 | CDKN1A | c.80G= (p.Ser27=) n.274G= n.299G= c.182G= (p.Ser61=) c.119G= (p.Ser40=) | |
6 | g.36684181G>T | CA363833935 | CDKN1A | c.80G>T (p.Ser27Ile) n.274G>T n.299G>T c.182G>T (p.Ser61Ile) c.119G>T (p.Ser40Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684182C>A | CA363833937 | CDKN1A | c.81C>A (p.Ser27Arg) n.275C>A n.300C>A c.183C>A (p.Ser61Arg) c.120C>A (p.Ser40Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684182C= | CA1621456911 | CDKN1A | c.81C= (p.Ser27=) n.275C= n.300C= c.183C= (p.Ser61=) c.120C= (p.Ser40=) | |
6 | g.36684182C>G | CA363833939 | CDKN1A | c.81C>G (p.Ser27Arg) n.275C>G n.300C>G c.183C>G (p.Ser61Arg) c.120C>G (p.Ser40Arg) | dbSNP |
6 | g.36684182C>T | CA3780323 | CDKN1A | c.81C>T (p.Ser27=) n.275C>T n.300C>T c.183C>T (p.Ser61=) c.120C>T (p.Ser40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684183G>A | CA3780324 | CDKN1A | c.82G>A (p.Glu28Lys) n.276G>A n.301G>A c.184G>A (p.Glu62Lys) c.121G>A (p.Glu41Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684183G>C | CA363833943 | CDKN1A | c.82G>C (p.Glu28Gln) n.276G>C n.301G>C c.184G>C (p.Glu62Gln) c.121G>C (p.Glu41Gln) | dbSNP |
6 | g.36684183G= | CA1621456912 | CDKN1A | c.82G= (p.Glu28=) n.276G= n.301G= c.184G= (p.Glu62=) c.121G= (p.Glu41=) | |
6 | g.36684183G>T | CA363833941 | CDKN1A | c.82G>T (p.Glu28Ter) n.276G>T n.301G>T c.184G>T (p.Glu62Ter) c.121G>T (p.Glu41Ter) | dbSNP gnomAD v4 COSMIC |
6 | g.36684184A>C | CA363833945 | CDKN1A | c.83A>C (p.Glu28Ala) n.277A>C n.302A>C c.185A>C (p.Glu62Ala) c.122A>C (p.Glu41Ala) | |
6 | g.36684184A>G | CA363833946 | CDKN1A | c.83A>G (p.Glu28Gly) n.277A>G n.302A>G c.185A>G (p.Glu62Gly) c.122A>G (p.Glu41Gly) | dbSNP |
6 | g.36684184A>T | CA363833947 | CDKN1A | c.83A>T (p.Glu28Val) n.277A>T n.302A>T c.185A>T (p.Glu62Val) c.122A>T (p.Glu41Val) | dbSNP |
6 | g.36684185G>A | CA3780325 | CDKN1A | c.84G>A (p.Glu28=) n.278G>A n.303G>A c.186G>A (p.Glu62=) c.123G>A (p.Glu41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684185G>C | CA363833950 | CDKN1A | c.84G>C (p.Glu28Asp) n.278G>C n.303G>C c.186G>C (p.Glu62Asp) c.123G>C (p.Glu41Asp) | dbSNP |
6 | g.36684185G= | CA1621456913 | CDKN1A | c.84G= (p.Glu28=) n.278G= n.303G= c.186G= (p.Glu62=) c.123G= (p.Glu41=) | |
6 | g.36684185G>T | CA363833952 | CDKN1A | c.84G>T (p.Glu28Asp) n.278G>T n.303G>T c.186G>T (p.Glu62Asp) c.123G>T (p.Glu41Asp) | gnomAD v4 |
6 | g.36684186C>A | CA363833953 | CDKN1A | c.85C>A (p.Gln29Lys) n.279C>A n.304C>A c.187C>A (p.Gln63Lys) c.124C>A (p.Gln42Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684186C= | CA1621456914 | CDKN1A | c.85C= (p.Gln29=) n.279C= n.304C= c.187C= (p.Gln63=) c.124C= (p.Gln42=) | |
6 | g.36684186C>G | CA363833955 | CDKN1A | c.85C>G (p.Gln29Glu) n.279C>G n.304C>G c.187C>G (p.Gln63Glu) c.124C>G (p.Gln42Glu) | dbSNP |
6 | g.36684186C>T | CA363833957 | CDKN1A | c.85C>T (p.Gln29Ter) n.279C>T n.304C>T c.187C>T (p.Gln63Ter) c.124C>T (p.Gln42Ter) | dbSNP COSMIC COSMIC |
6 | g.36684187A= | CA1621456915 | CDKN1A | c.86A= (p.Gln29=) n.280A= n.305A= c.188A= (p.Gln63=) c.125A= (p.Gln42=) | |
6 | g.36684187A>C | CA3780326 | CDKN1A | c.86A>C (p.Gln29Pro) n.280A>C n.305A>C c.188A>C (p.Gln63Pro) c.125A>C (p.Gln42Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684187A>G | CA3780327 | CDKN1A | c.86A>G (p.Gln29Arg) n.280A>G n.305A>G c.188A>G (p.Gln63Arg) c.125A>G (p.Gln42Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684187A>T | CA363833959 | CDKN1A | c.86A>T (p.Gln29Leu) n.280A>T n.305A>T c.188A>T (p.Gln63Leu) c.125A>T (p.Gln42Leu) | |
6 | g.36684188G>A | CA449975910 | CDKN1A | c.87G>A (p.Gln29=) n.281G>A n.306G>A c.189G>A (p.Gln63=) c.126G>A (p.Gln42=) | dbSNP gnomAD v4 |
6 | g.36684188G>C | CA363833961 | CDKN1A | c.87G>C (p.Gln29His) n.281G>C n.306G>C c.189G>C (p.Gln63His) c.126G>C (p.Gln42His) | |
6 | g.36684188G= | CA1621456916 | CDKN1A | c.87G= (p.Gln29=) n.281G= n.306G= c.189G= (p.Gln63=) c.126G= (p.Gln42=) | |
6 | g.36684188G>T | CA363833960 | CDKN1A | c.87G>T (p.Gln29His) n.281G>T n.306G>T c.189G>T (p.Gln63His) c.126G>T (p.Gln42His) | |
6 | g.36684189C>A | CA363833963 | CDKN1A | c.88C>A (p.Leu30Met) n.282C>A n.307C>A c.190C>A (p.Leu64Met) c.127C>A (p.Leu43Met) | dbSNP |
6 | g.36684189C>G | CA363833965 | CDKN1A | c.88C>G (p.Leu30Val) n.282C>G n.307C>G c.190C>G (p.Leu64Val) c.127C>G (p.Leu43Val) | dbSNP |
6 | g.36684189C>T | CA449975914 | CDKN1A | c.88C>T (p.Leu30=) n.282C>T n.307C>T c.190C>T (p.Leu64=) c.127C>T (p.Leu43=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684190T>A | CA363833967 | CDKN1A | c.89T>A (p.Leu30Gln) n.283T>A n.308T>A c.191T>A (p.Leu64Gln) c.128T>A (p.Leu43Gln) | dbSNP |
6 | g.36684190T>C | CA363833968 | CDKN1A | c.89T>C (p.Leu30Pro) n.283T>C n.308T>C c.191T>C (p.Leu64Pro) c.128T>C (p.Leu43Pro) | dbSNP |
6 | g.36684190T>G | CA363833970 | CDKN1A | c.89T>G (p.Leu30Arg) n.283T>G n.308T>G c.191T>G (p.Leu64Arg) c.128T>G (p.Leu43Arg) | |
6 | g.36684191G>A | CA449975920 | CDKN1A | c.90G>A (p.Leu30=) n.284G>A n.309G>A c.192G>A (p.Leu64=) c.129G>A (p.Leu43=) | dbSNP |
6 | g.36684191G>C | CA449975918 | CDKN1A | c.90G>C (p.Leu30=) n.284G>C n.309G>C c.192G>C (p.Leu64=) c.129G>C (p.Leu43=) | dbSNP |
6 | g.36684191G>T | CA449975917 | CDKN1A | c.90G>T (p.Leu30=) n.284G>T n.309G>T c.192G>T (p.Leu64=) c.129G>T (p.Leu43=) | |
6 | g.36684192A>C | CA363833972 | CDKN1A | c.91A>C (p.Ser31Arg) n.285A>C n.310A>C c.193A>C (p.Ser65Arg) c.130A>C (p.Ser44Arg) | |
6 | g.36684192A>G | CA363833974 | CDKN1A | c.91A>G (p.Ser31Gly) n.285A>G n.310A>G c.193A>G (p.Ser65Gly) c.130A>G (p.Ser44Gly) | |
6 | g.36684192A>T | CA363833975 | CDKN1A | c.91A>T (p.Ser31Cys) n.285A>T n.310A>T c.193A>T (p.Ser65Cys) c.130A>T (p.Ser44Cys) | |
6 | g.36684193G>A | CA363833980 | CDKN1A | c.92G>A (p.Ser31Asn) n.286G>A n.311G>A c.194G>A (p.Ser65Asn) c.131G>A (p.Ser44Asn) | |
6 | g.36684193G>C | CA363833977 | CDKN1A | c.92G>C (p.Ser31Thr) n.286G>C n.311G>C c.194G>C (p.Ser65Thr) c.131G>C (p.Ser44Thr) | |
6 | g.36684193G>T | CA363833979 | CDKN1A | c.92G>T (p.Ser31Ile) n.286G>T n.311G>T c.194G>T (p.Ser65Ile) c.131G>T (p.Ser44Ile) | gnomAD v4 |
6 | g.36684194C>A | CA127261 | CDKN1A | c.93C>A (p.Ser31Arg) n.287C>A n.312C>A c.195C>A (p.Ser65Arg) c.132C>A (p.Ser44Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684194C= | CA1621456917 | CDKN1A | c.93C= (p.Ser31=) n.287C= n.312C= c.195C= (p.Ser65=) c.132C= (p.Ser44=) | |
6 | g.36684194C>G | CA363833982 | CDKN1A | c.93C>G (p.Ser31Arg) n.287C>G n.312C>G c.195C>G (p.Ser65Arg) c.132C>G (p.Ser44Arg) | gnomAD v3 gnomAD v4 |
6 | g.36684194C>T | CA3780328 | CDKN1A | c.93C>T (p.Ser31=) n.287C>T n.312C>T c.195C>T (p.Ser65=) c.132C>T (p.Ser44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684195C>A | CA363833984 | CDKN1A | c.94C>A (p.Arg32Ser) n.288C>A n.313C>A c.196C>A (p.Arg66Ser) c.133C>A (p.Arg45Ser) | gnomAD v4 |
6 | g.36684195C= | CA1621456918 | CDKN1A | c.94C= (p.Arg32=) n.288C= n.313C= c.196C= (p.Arg66=) c.133C= (p.Arg45=) | |
6 | g.36684195C>G | CA363833985 | CDKN1A | c.94C>G (p.Arg32Gly) n.288C>G n.313C>G c.196C>G (p.Arg66Gly) c.133C>G (p.Arg45Gly) | dbSNP |
6 | g.36684195C>T | CA3780329 | CDKN1A | c.94C>T (p.Arg32Cys) n.288C>T n.313C>T c.196C>T (p.Arg66Cys) c.133C>T (p.Arg45Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684196G>A | CA363833987 | CDKN1A | c.95G>A (p.Arg32His) n.289G>A n.314G>A c.197G>A (p.Arg66His) c.134G>A (p.Arg45His) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684196G>C | CA363833991 | CDKN1A | c.95G>C (p.Arg32Pro) n.289G>C n.314G>C c.197G>C (p.Arg66Pro) c.134G>C (p.Arg45Pro) | dbSNP gnomAD v4 |
6 | g.36684196G= | CA1621456919 | CDKN1A | c.95G= (p.Arg32=) n.289G= n.314G= c.197G= (p.Arg66=) c.134G= (p.Arg45=) | |
6 | g.36684196G>T | CA363833989 | CDKN1A | c.95G>T (p.Arg32Leu) n.289G>T n.314G>T c.197G>T (p.Arg66Leu) c.134G>T (p.Arg45Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684197C>A | CA449975932 | CDKN1A | c.96C>A (p.Arg32=) n.290C>A n.315C>A c.198C>A (p.Arg66=) c.135C>A (p.Arg45=) | dbSNP gnomAD v4 |
6 | g.36684197C= | CA1621456920 | CDKN1A | c.96C= (p.Arg32=) n.290C= n.315C= c.198C= (p.Arg66=) c.135C= (p.Arg45=) | |
6 | g.36684197C>G | CA449975933 | CDKN1A | c.96C>G (p.Arg32=) n.290C>G n.315C>G c.198C>G (p.Arg66=) c.135C>G (p.Arg45=) | dbSNP |
6 | g.36684197C>T | CA449975935 | CDKN1A | c.96C>T (p.Arg32=) n.290C>T n.315C>T c.198C>T (p.Arg66=) c.135C>T (p.Arg45=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684198G>A | CA3780331 | CDKN1A | c.97G>A (p.Asp33Asn) n.291G>A n.316G>A c.199G>A (p.Asp67Asn) c.136G>A (p.Asp46Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684198G>C | CA3780330 | CDKN1A | c.97G>C (p.Asp33His) n.291G>C n.316G>C c.199G>C (p.Asp67His) c.136G>C (p.Asp46His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684198G= | CA1621456921 | CDKN1A | c.97G= (p.Asp33=) n.291G= n.316G= c.199G= (p.Asp67=) c.136G= (p.Asp46=) | |
6 | g.36684198G>T | CA363833994 | CDKN1A | c.97G>T (p.Asp33Tyr) n.291G>T n.316G>T c.199G>T (p.Asp67Tyr) c.136G>T (p.Asp46Tyr) | |
6 | g.36684199A>C | CA363833996 | CDKN1A | c.98A>C (p.Asp33Ala) n.292A>C n.317A>C c.200A>C (p.Asp67Ala) c.137A>C (p.Asp46Ala) | |
6 | g.36684199A>G | CA363833998 | CDKN1A | c.98A>G (p.Asp33Gly) n.292A>G n.317A>G c.200A>G (p.Asp67Gly) c.137A>G (p.Asp46Gly) | dbSNP |
6 | g.36684199A>T | CA363833999 | CDKN1A | c.98A>T (p.Asp33Val) n.292A>T n.317A>T c.200A>T (p.Asp67Val) c.137A>T (p.Asp46Val) | dbSNP |
6 | g.36684200C>A | CA363834000 | CDKN1A | c.99C>A (p.Asp33Glu) n.293C>A n.318C>A c.201C>A (p.Asp67Glu) c.138C>A (p.Asp46Glu) | |
6 | g.36684200C= | CA1621456922 | CDKN1A | c.99C= (p.Asp33=) n.293C= n.318C= c.201C= (p.Asp67=) c.138C= (p.Asp46=) | |
6 | g.36684200C>G | CA137422872 | CDKN1A | c.99C>G (p.Asp33Glu) n.293C>G n.318C>G c.201C>G (p.Asp67Glu) c.138C>G (p.Asp46Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684200C>T | CA449975947 | CDKN1A | c.99C>T (p.Asp33=) n.293C>T n.318C>T c.201C>T (p.Asp67=) c.138C>T (p.Asp46=) | gnomAD v4 |
6 | g.36684201T>A | CA363834003 | CDKN1A | c.100T>A (p.Cys34Ser) n.294T>A n.319T>A c.202T>A (p.Cys68Ser) c.139T>A (p.Cys47Ser) | |
6 | g.36684201T>C | CA363834005 | CDKN1A | c.100T>C (p.Cys34Arg) n.294T>C n.319T>C c.202T>C (p.Cys68Arg) c.139T>C (p.Cys47Arg) | |
6 | g.36684201T>G | CA363834006 | CDKN1A | c.100T>G (p.Cys34Gly) n.294T>G n.319T>G c.202T>G (p.Cys68Gly) c.139T>G (p.Cys47Gly) | |
6 | g.36684202G>A | CA363834012 | CDKN1A | c.101G>A (p.Cys34Tyr) n.295G>A n.320G>A c.203G>A (p.Cys68Tyr) c.140G>A (p.Cys47Tyr) | dbSNP |
6 | g.36684202G>C | CA363834010 | CDKN1A | c.101G>C (p.Cys34Ser) n.295G>C n.320G>C c.203G>C (p.Cys68Ser) c.140G>C (p.Cys47Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684202G= | CA1621456923 | CDKN1A | c.101G= (p.Cys34=) n.295G= n.320G= c.203G= (p.Cys68=) c.140G= (p.Cys47=) | |
6 | g.36684202G>T | CA363834008 | CDKN1A | c.101G>T (p.Cys34Phe) n.295G>T n.320G>T c.203G>T (p.Cys68Phe) c.140G>T (p.Cys47Phe) | |
6 | g.36684203T>A | CA363834014 | CDKN1A | c.102T>A (p.Cys34Ter) n.296T>A n.321T>A c.204T>A (p.Cys68Ter) c.141T>A (p.Cys47Ter) | dbSNP |
6 | g.36684203T>C | CA449975955 | CDKN1A | c.102T>C (p.Cys34=) n.296T>C n.321T>C c.204T>C (p.Cys68=) c.141T>C (p.Cys47=) | dbSNP |
6 | g.36684203T>G | CA363834013 | CDKN1A | c.102T>G (p.Cys34Trp) n.296T>G n.321T>G c.204T>G (p.Cys68Trp) c.141T>G (p.Cys47Trp) | dbSNP |
6 | g.36684203T= | CA1621456924 | CDKN1A | c.102T= (p.Cys34=) n.296T= n.321T= c.204T= (p.Cys68=) c.141T= (p.Cys47=) | |
6 | g.36684204G>A | CA363834017 | CDKN1A | c.103G>A (p.Asp35Asn) n.297G>A n.322G>A c.205G>A (p.Asp69Asn) c.142G>A (p.Asp48Asn) | |
6 | g.36684204G>C | CA363834018 | CDKN1A | c.103G>C (p.Asp35His) n.297G>C n.322G>C c.205G>C (p.Asp69His) c.142G>C (p.Asp48His) | dbSNP |
6 | g.36684204G>T | CA363834019 | CDKN1A | c.103G>T (p.Asp35Tyr) n.297G>T n.322G>T c.205G>T (p.Asp69Tyr) c.142G>T (p.Asp48Tyr) | dbSNP gnomAD v4 |
6 | g.36684205_36684209del | CA2711433941 | CDKN1A | c.104_108del (p.Asp35AlafsTer11) n.298_302del n.323_327del c.206_210del (p.Asp69AlafsTer11) c.143_147del (p.Asp48AlafsTer11) | dbSNP |
6 | g.36684221_36684222insGGATGCGCTAATGGCGGGC | CA3780332 | CDKN1A | c.120_121insGGATGCGCTAATGGCGGGC (p.Cys41GlyfsTer13) n.314_315insGGATGCGCTAATGGCGGGC n.339_340insGGATGCGCTAATGGCGGGC c.222_223insGGATGCGCTAATGGCGGGC (p.Cys75GlyfsTer13) c.159_160insGGATGCGCTAATGGCGGGC (p.Cys54GlyfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684205A>C | CA363834025 | CDKN1A | c.104A>C (p.Asp35Ala) n.298A>C n.323A>C c.206A>C (p.Asp69Ala) c.143A>C (p.Asp48Ala) | |
6 | g.36684205A>G | CA363834023 | CDKN1A | c.104A>G (p.Asp35Gly) n.298A>G n.323A>G c.206A>G (p.Asp69Gly) c.143A>G (p.Asp48Gly) | dbSNP |
6 | g.36684205A>T | CA363834021 | CDKN1A | c.104A>T (p.Asp35Val) n.298A>T n.323A>T c.206A>T (p.Asp69Val) c.143A>T (p.Asp48Val) | dbSNP |
6 | g.36684206T>A | CA363834026 | CDKN1A | c.105T>A (p.Asp35Glu) n.299T>A n.324T>A c.207T>A (p.Asp69Glu) c.144T>A (p.Asp48Glu) | dbSNP |
6 | g.36684206T>C | CA3780333 | CDKN1A | c.105T>C (p.Asp35=) n.299T>C n.324T>C c.207T>C (p.Asp69=) c.144T>C (p.Asp48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684206T>G | CA363834029 | CDKN1A | c.105T>G (p.Asp35Glu) n.299T>G n.324T>G c.207T>G (p.Asp69Glu) c.144T>G (p.Asp48Glu) | dbSNP |
6 | g.36684206T= | CA1621456925 | CDKN1A | c.105T= (p.Asp35=) n.299T= n.324T= c.207T= (p.Asp69=) c.144T= (p.Asp48=) | |
6 | g.36684207G>A | CA363834031 | CDKN1A | c.106G>A (p.Ala36Thr) n.300G>A n.325G>A c.208G>A (p.Ala70Thr) c.145G>A (p.Ala49Thr) | gnomAD v4 |
6 | g.36684207G>C | CA363834033 | CDKN1A | c.106G>C (p.Ala36Pro) n.300G>C n.325G>C c.208G>C (p.Ala70Pro) c.145G>C (p.Ala49Pro) | dbSNP |
6 | g.36684207G>T | CA363834035 | CDKN1A | c.106G>T (p.Ala36Ser) n.300G>T n.325G>T c.208G>T (p.Ala70Ser) c.145G>T (p.Ala49Ser) | gnomAD v4 |
6 | g.36684208C>A | CA3780334 | CDKN1A | c.107C>A (p.Ala36Glu) n.301C>A n.326C>A c.209C>A (p.Ala70Glu) c.146C>A (p.Ala49Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684208C= | CA1621456926 | CDKN1A | c.107C= (p.Ala36=) n.301C= n.326C= c.209C= (p.Ala70=) c.146C= (p.Ala49=) | |
6 | g.36684208C>G | CA363834037 | CDKN1A | c.107C>G (p.Ala36Gly) n.301C>G n.326C>G c.209C>G (p.Ala70Gly) c.146C>G (p.Ala49Gly) | dbSNP |
6 | g.36684208C>T | CA137422918 | CDKN1A | c.107C>T (p.Ala36Val) n.301C>T n.326C>T c.209C>T (p.Ala70Val) c.146C>T (p.Ala49Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684209G>A | CA3780335 | CDKN1A | c.108G>A (p.Ala36=) n.302G>A n.327G>A c.210G>A (p.Ala70=) c.147G>A (p.Ala49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684209G>C | CA449975973 | CDKN1A | c.108G>C (p.Ala36=) n.302G>C n.327G>C c.210G>C (p.Ala70=) c.147G>C (p.Ala49=) | dbSNP |
6 | g.36684209G= | CA1621456927 | CDKN1A | c.108G= (p.Ala36=) n.302G= n.327G= c.210G= (p.Ala70=) c.147G= (p.Ala49=) | |
6 | g.36684209G>T | CA449975974 | CDKN1A | c.108G>T (p.Ala36=) n.302G>T n.327G>T c.210G>T (p.Ala70=) c.147G>T (p.Ala49=) | gnomAD v4 |
6 | g.36684210C>A | CA363834038 | CDKN1A | c.109C>A (p.Leu37Ile) n.303C>A n.328C>A c.211C>A (p.Leu71Ile) c.148C>A (p.Leu50Ile) | dbSNP |
6 | g.36684210C>G | CA363834039 | CDKN1A | c.109C>G (p.Leu37Val) n.303C>G n.328C>G c.211C>G (p.Leu71Val) c.148C>G (p.Leu50Val) | dbSNP gnomAD v4 |
6 | g.36684210C>T | CA449975978 | CDKN1A | c.109C>T (p.Leu37=) n.303C>T n.328C>T c.211C>T (p.Leu71=) c.148C>T (p.Leu50=) | |
6 | g.36684211T>A | CA363834040 | CDKN1A | c.110T>A (p.Leu37Gln) n.304T>A n.329T>A c.212T>A (p.Leu71Gln) c.149T>A (p.Leu50Gln) | |
6 | g.36684211T>C | CA363834041 | CDKN1A | c.110T>C (p.Leu37Pro) n.304T>C n.329T>C c.212T>C (p.Leu71Pro) c.149T>C (p.Leu50Pro) | |
6 | g.36684211T>G | CA363834042 | CDKN1A | c.110T>G (p.Leu37Arg) n.304T>G n.329T>G c.212T>G (p.Leu71Arg) c.149T>G (p.Leu50Arg) | |
6 | g.36684212A>C | CA449975988 | CDKN1A | c.111A>C (p.Leu37=) n.305A>C n.330A>C c.213A>C (p.Leu71=) c.150A>C (p.Leu50=) | |
6 | g.36684212A>G | CA449975985 | CDKN1A | c.111A>G (p.Leu37=) n.305A>G n.330A>G c.213A>G (p.Leu71=) c.150A>G (p.Leu50=) | gnomAD v4 |
6 | g.36684212A>T | CA449975987 | CDKN1A | c.111A>T (p.Leu37=) n.305A>T n.330A>T c.213A>T (p.Leu71=) c.150A>T (p.Leu50=) | dbSNP |
6 | g.36684213A>C | CA363834044 | CDKN1A | c.112A>C (p.Met38Leu) n.306A>C n.331A>C c.214A>C (p.Met72Leu) c.151A>C (p.Met51Leu) | |
6 | g.36684213A>G | CA363834046 | CDKN1A | c.112A>G (p.Met38Val) n.306A>G n.331A>G c.214A>G (p.Met72Val) c.151A>G (p.Met51Val) | |
6 | g.36684213A>T | CA363834047 | CDKN1A | c.112A>T (p.Met38Leu) n.306A>T n.331A>T c.214A>T (p.Met72Leu) c.151A>T (p.Met51Leu) | |
6 | g.36684214T>A | CA363834048 | CDKN1A | c.113T>A (p.Met38Lys) n.307T>A n.332T>A c.215T>A (p.Met72Lys) c.152T>A (p.Met51Lys) | |
6 | g.36684214T>C | CA363834050 | CDKN1A | c.113T>C (p.Met38Thr) n.307T>C n.332T>C c.215T>C (p.Met72Thr) c.152T>C (p.Met51Thr) | |
6 | g.36684214T>G | CA363834052 | CDKN1A | c.113T>G (p.Met38Arg) n.307T>G n.332T>G c.215T>G (p.Met72Arg) c.152T>G (p.Met51Arg) | dbSNP |
6 | g.36684215G>A | CA363834055 | CDKN1A | c.114G>A (p.Met38Ile) n.308G>A n.333G>A c.216G>A (p.Met72Ile) c.153G>A (p.Met51Ile) | dbSNP gnomAD v4 |
6 | g.36684215G>C | CA363834058 | CDKN1A | c.114G>C (p.Met38Ile) n.308G>C n.333G>C c.216G>C (p.Met72Ile) c.153G>C (p.Met51Ile) | dbSNP |
6 | g.36684215G>T | CA363834054 | CDKN1A | c.114G>T (p.Met38Ile) n.308G>T n.333G>T c.216G>T (p.Met72Ile) c.153G>T (p.Met51Ile) | |
6 | g.36684216G>A | CA363834059 | CDKN1A | c.115G>A (p.Ala39Thr) n.309G>A n.334G>A c.217G>A (p.Ala73Thr) c.154G>A (p.Ala52Thr) | dbSNP COSMIC COSMIC |
6 | g.36684216G>C | CA363834061 | CDKN1A | c.115G>C (p.Ala39Pro) n.309G>C n.334G>C c.217G>C (p.Ala73Pro) c.154G>C (p.Ala52Pro) | dbSNP |
6 | g.36684216G>T | CA363834060 | CDKN1A | c.115G>T (p.Ala39Ser) n.309G>T n.334G>T c.217G>T (p.Ala73Ser) c.154G>T (p.Ala52Ser) | dbSNP |
6 | g.36684217C>A | CA363834062 | CDKN1A | c.116C>A (p.Ala39Glu) n.310C>A n.335C>A c.218C>A (p.Ala73Glu) c.155C>A (p.Ala52Glu) | |
6 | g.36684217C= | CA1621456928 | CDKN1A | c.116C= (p.Ala39=) n.310C= n.335C= c.218C= (p.Ala73=) c.155C= (p.Ala52=) | |
6 | g.36684217C>G | CA363834063 | CDKN1A | c.116C>G (p.Ala39Gly) n.310C>G n.335C>G c.218C>G (p.Ala73Gly) c.155C>G (p.Ala52Gly) | dbSNP |
6 | g.36684217C>T | CA3780336 | CDKN1A | c.116C>T (p.Ala39Val) n.310C>T n.335C>T c.218C>T (p.Ala73Val) c.155C>T (p.Ala52Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684218G>A | CA137422929 | CDKN1A | c.117G>A (p.Ala39=) n.311G>A n.336G>A c.219G>A (p.Ala73=) c.156G>A (p.Ala52=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684218G>C | CA449976012 | CDKN1A | c.117G>C (p.Ala39=) n.311G>C n.336G>C c.219G>C (p.Ala73=) c.156G>C (p.Ala52=) | dbSNP |
6 | g.36684218G= | CA1621456929 | CDKN1A | c.117G= (p.Ala39=) n.311G= n.336G= c.219G= (p.Ala73=) c.156G= (p.Ala52=) | |
6 | g.36684218G>T | CA449976015 | CDKN1A | c.117G>T (p.Ala39=) n.311G>T n.336G>T c.219G>T (p.Ala73=) c.156G>T (p.Ala52=) | dbSNP |