| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |