UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 6 | g.36684219G>A | CA363834064 | CDKN1A | c.118G>A (p.Gly40Ser) n.312G>A n.337G>A c.220G>A (p.Gly74Ser) c.157G>A (p.Gly53Ser) | dbSNP |
| 6 | g.36684219G>C | CA363834065 | CDKN1A | c.118G>C (p.Gly40Arg) n.312G>C n.337G>C c.220G>C (p.Gly74Arg) c.157G>C (p.Gly53Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684219G= | CA1621456930 | CDKN1A | c.118G= (p.Gly40=) n.312G= n.337G= c.220G= (p.Gly74=) c.157G= (p.Gly53=) | |
| 6 | g.36684219G>T | CA363834066 | CDKN1A | c.118G>T (p.Gly40Cys) n.312G>T n.337G>T c.220G>T (p.Gly74Cys) c.157G>T (p.Gly53Cys) | dbSNP |
| 6 | g.36684220G>A | CA363834067 | CDKN1A | c.119G>A (p.Gly40Asp) n.313G>A n.338G>A c.221G>A (p.Gly74Asp) c.158G>A (p.Gly53Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36684220G>C | CA363834068 | CDKN1A | c.119G>C (p.Gly40Ala) n.313G>C n.338G>C c.221G>C (p.Gly74Ala) c.158G>C (p.Gly53Ala) | dbSNP |
| 6 | g.36684220G= | CA1621456931 | CDKN1A | c.119G= (p.Gly40=) n.313G= n.338G= c.221G= (p.Gly74=) c.158G= (p.Gly53=) | |
| 6 | g.36684220G>T | CA137422931 | CDKN1A | c.119G>T (p.Gly40Val) n.313G>T n.338G>T c.221G>T (p.Gly74Val) c.158G>T (p.Gly53Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684221C>A | CA449976025 | CDKN1A | c.120C>A (p.Gly40=) n.314C>A n.339C>A c.222C>A (p.Gly74=) c.159C>A (p.Gly53=) | dbSNP |
| 6 | g.36684221C= | CA1621456932 | CDKN1A | c.120C= (p.Gly40=) n.314C= n.339C= c.222C= (p.Gly74=) c.159C= (p.Gly53=) | |
| 6 | g.36684221C>G | CA449976027 | CDKN1A | c.120C>G (p.Gly40=) n.314C>G n.339C>G c.222C>G (p.Gly74=) c.159C>G (p.Gly53=) | dbSNP |
| 6 | g.36684221C>T | CA3780337 | CDKN1A | c.120C>T (p.Gly40=) n.314C>T n.339C>T c.222C>T (p.Gly74=) c.159C>T (p.Gly53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684222T>A | CA363834069 | CDKN1A | c.121T>A (p.Cys41Ser) n.315T>A n.340T>A c.223T>A (p.Cys75Ser) c.160T>A (p.Cys54Ser) | dbSNP |
| 6 | g.36684222T>C | CA363834070 | CDKN1A | c.121T>C (p.Cys41Arg) n.315T>C n.340T>C c.223T>C (p.Cys75Arg) c.160T>C (p.Cys54Arg) | dbSNP |
| 6 | g.36684222T>G | CA363834071 | CDKN1A | c.121T>G (p.Cys41Gly) n.315T>G n.340T>G c.223T>G (p.Cys75Gly) c.160T>G (p.Cys54Gly) | dbSNP |
| 6 | g.36684223G>A | CA363834072 | CDKN1A | c.122G>A (p.Cys41Tyr) n.316G>A n.341G>A c.224G>A (p.Cys75Tyr) c.161G>A (p.Cys54Tyr) | dbSNP |
| 6 | g.36684223G>C | CA363834074 | CDKN1A | c.122G>C (p.Cys41Ser) n.316G>C n.341G>C c.224G>C (p.Cys75Ser) c.161G>C (p.Cys54Ser) | dbSNP |
| 6 | g.36684223G>T | CA363834073 | CDKN1A | c.122G>T (p.Cys41Phe) n.316G>T n.341G>T c.224G>T (p.Cys75Phe) c.161G>T (p.Cys54Phe) | dbSNP |
| 6 | g.36684224C>A | CA363834075 | CDKN1A | c.123C>A (p.Cys41Ter) n.317C>A n.342C>A c.225C>A (p.Cys75Ter) c.162C>A (p.Cys54Ter) | gnomAD v4 |
| 6 | g.36684224C>G | CA363834076 | CDKN1A | c.123C>G (p.Cys41Trp) n.317C>G n.342C>G c.225C>G (p.Cys75Trp) c.162C>G (p.Cys54Trp) | dbSNP |
| 6 | g.36684224C>T | CA449976036 | CDKN1A | c.123C>T (p.Cys41=) n.317C>T n.342C>T c.225C>T (p.Cys75=) c.162C>T (p.Cys54=) | dbSNP gnomAD v4 |
| 6 | g.36684225A= | CA1621456933 | CDKN1A | c.124A= (p.Ile42=) n.318A= n.343A= c.226A= (p.Ile76=) c.163A= (p.Ile55=) | |
| 6 | g.36684225A>C | CA363834077 | CDKN1A | c.124A>C (p.Ile42Leu) n.318A>C n.343A>C c.226A>C (p.Ile76Leu) c.163A>C (p.Ile55Leu) | dbSNP gnomAD v4 |
| 6 | g.36684225A>G | CA363834078 | CDKN1A | c.124A>G (p.Ile42Val) n.318A>G n.343A>G c.226A>G (p.Ile76Val) c.163A>G (p.Ile55Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684225A>T | CA363834079 | CDKN1A | c.124A>T (p.Ile42Phe) n.318A>T n.343A>T c.226A>T (p.Ile76Phe) c.163A>T (p.Ile55Phe) | dbSNP |
| 6 | g.36684226T>A | CA3780338 | CDKN1A | c.125T>A (p.Ile42Asn) n.319T>A n.344T>A c.227T>A (p.Ile76Asn) c.164T>A (p.Ile55Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684226T>C | CA363834080 | CDKN1A | c.125T>C (p.Ile42Thr) n.319T>C n.344T>C c.227T>C (p.Ile76Thr) c.164T>C (p.Ile55Thr) | |
| 6 | g.36684226T>G | CA363834081 | CDKN1A | c.125T>G (p.Ile42Ser) n.319T>G n.344T>G c.227T>G (p.Ile76Ser) c.164T>G (p.Ile55Ser) | |
| 6 | g.36684226T= | CA1621456934 | CDKN1A | c.125T= (p.Ile42=) n.319T= n.344T= c.227T= (p.Ile76=) c.164T= (p.Ile55=) | |
| 6 | g.36684227C>A | CA449976047 | CDKN1A | c.126C>A (p.Ile42=) n.320C>A n.345C>A c.228C>A (p.Ile76=) c.165C>A (p.Ile55=) | gnomAD v4 |
| 6 | g.36684227C= | CA1621456935 | CDKN1A | c.126C= (p.Ile42=) n.320C= n.345C= c.228C= (p.Ile76=) c.165C= (p.Ile55=) | |
| 6 | g.36684227C>G | CA363834082 | CDKN1A | c.126C>G (p.Ile42Met) n.320C>G n.345C>G c.228C>G (p.Ile76Met) c.165C>G (p.Ile55Met) | |
| 6 | g.36684227C>T | CA3780339 | CDKN1A | c.126C>T (p.Ile42=) n.320C>T n.345C>T c.228C>T (p.Ile76=) c.165C>T (p.Ile55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684228C>A | CA363834085 | CDKN1A | c.127C>A (p.Gln43Lys) n.321C>A n.346C>A c.229C>A (p.Gln77Lys) c.166C>A (p.Gln56Lys) | |
| 6 | g.36684228C>G | CA363834084 | CDKN1A | c.127C>G (p.Gln43Glu) n.321C>G n.346C>G c.229C>G (p.Gln77Glu) c.166C>G (p.Gln56Glu) | dbSNP |
| 6 | g.36684228C>T | CA363834083 | CDKN1A | c.127C>T (p.Gln43Ter) n.321C>T n.346C>T c.229C>T (p.Gln77Ter) c.166C>T (p.Gln56Ter) | dbSNP |
| 6 | g.36684229A>C | CA363834086 | CDKN1A | c.128A>C (p.Gln43Pro) n.322A>C n.347A>C c.230A>C (p.Gln77Pro) c.167A>C (p.Gln56Pro) | |
| 6 | g.36684229A>G | CA363834087 | CDKN1A | c.128A>G (p.Gln43Arg) n.322A>G n.347A>G c.230A>G (p.Gln77Arg) c.167A>G (p.Gln56Arg) | dbSNP gnomAD v4 |
| 6 | g.36684229A>T | CA363834088 | CDKN1A | c.128A>T (p.Gln43Leu) n.322A>T n.347A>T c.230A>T (p.Gln77Leu) c.167A>T (p.Gln56Leu) | dbSNP |
| 6 | g.36684230G>A | CA449976057 | CDKN1A | c.129G>A (p.Gln43=) n.323G>A n.348G>A c.231G>A (p.Gln77=) c.168G>A (p.Gln56=) | dbSNP gnomAD v4 |
| 6 | g.36684230G>C | CA363834089 | CDKN1A | c.129G>C (p.Gln43His) n.323G>C n.348G>C c.231G>C (p.Gln77His) c.168G>C (p.Gln56His) | dbSNP |
| 6 | g.36684230G>T | CA363834090 | CDKN1A | c.129G>T (p.Gln43His) n.323G>T n.348G>T c.231G>T (p.Gln77His) c.168G>T (p.Gln56His) | |
| 6 | g.36684231G>A | CA363834091 | CDKN1A | c.130G>A (p.Glu44Lys) n.324G>A n.349G>A c.232G>A (p.Glu78Lys) c.169G>A (p.Glu57Lys) | dbSNP |
| 6 | g.36684231G>C | CA363834092 | CDKN1A | c.130G>C (p.Glu44Gln) n.324G>C n.349G>C c.232G>C (p.Glu78Gln) c.169G>C (p.Glu57Gln) | dbSNP |
| 6 | g.36684231G>T | CA363834093 | CDKN1A | c.130G>T (p.Glu44Ter) n.324G>T n.349G>T c.232G>T (p.Glu78Ter) c.169G>T (p.Glu57Ter) | gnomAD v4 |
| 6 | g.36684232A>C | CA363834094 | CDKN1A | c.131A>C (p.Glu44Ala) n.325A>C n.350A>C c.233A>C (p.Glu78Ala) c.170A>C (p.Glu57Ala) | |
| 6 | g.36684232A>G | CA363834095 | CDKN1A | c.131A>G (p.Glu44Gly) n.325A>G n.350A>G c.233A>G (p.Glu78Gly) c.170A>G (p.Glu57Gly) | dbSNP |
| 6 | g.36684232A>T | CA363834096 | CDKN1A | c.131A>T (p.Glu44Val) n.325A>T n.350A>T c.233A>T (p.Glu78Val) c.170A>T (p.Glu57Val) | dbSNP |
| 6 | g.36684233G>A | CA449976066 | CDKN1A | c.132G>A (p.Glu44=) n.326G>A n.351G>A c.234G>A (p.Glu78=) c.171G>A (p.Glu57=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684233G>C | CA363834097 | CDKN1A | c.132G>C (p.Glu44Asp) n.326G>C n.351G>C c.234G>C (p.Glu78Asp) c.171G>C (p.Glu57Asp) | dbSNP |
| 6 | g.36684233G= | CA1621456936 | CDKN1A | c.132G= (p.Glu44=) n.326G= n.351G= c.234G= (p.Glu78=) c.171G= (p.Glu57=) | |
| 6 | g.36684233G>T | CA363834098 | CDKN1A | c.132G>T (p.Glu44Asp) n.326G>T n.351G>T c.234G>T (p.Glu78Asp) c.171G>T (p.Glu57Asp) | |
| 6 | g.36684234G>A | CA363834101 | CDKN1A | c.133G>A (p.Ala45Thr) n.327G>A n.352G>A c.235G>A (p.Ala79Thr) c.172G>A (p.Ala58Thr) | |
| 6 | g.36684234G>C | CA363834099 | CDKN1A | c.133G>C (p.Ala45Pro) n.327G>C n.352G>C c.235G>C (p.Ala79Pro) c.172G>C (p.Ala58Pro) | |
| 6 | g.36684234G>T | CA363834100 | CDKN1A | c.133G>T (p.Ala45Ser) n.327G>T n.352G>T c.235G>T (p.Ala79Ser) c.172G>T (p.Ala58Ser) | gnomAD v4 |
| 6 | g.36684235C>A | CA363834102 | CDKN1A | c.134C>A (p.Ala45Asp) n.328C>A n.353C>A c.236C>A (p.Ala79Asp) c.173C>A (p.Ala58Asp) | dbSNP gnomAD v4 |
| 6 | g.36684235C= | CA1621456937 | CDKN1A | c.134C= (p.Ala45=) n.328C= n.353C= c.236C= (p.Ala79=) c.173C= (p.Ala58=) | |
| 6 | g.36684235C>G | CA363834103 | CDKN1A | c.134C>G (p.Ala45Gly) n.328C>G n.353C>G c.236C>G (p.Ala79Gly) c.173C>G (p.Ala58Gly) | dbSNP |
| 6 | g.36684235C>T | CA363834104 | CDKN1A | c.134C>T (p.Ala45Val) n.328C>T n.353C>T c.236C>T (p.Ala79Val) c.173C>T (p.Ala58Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.36684236C>A | CA450129267 | CDKN1A | c.135C>A (p.Ala45=) n.329C>A n.354C>A c.237C>A (p.Ala79=) c.174C>A (p.Ala58=) | |
| 6 | g.36684236C>G | CA450129270 | CDKN1A | c.135C>G (p.Ala45=) n.329C>G n.354C>G c.237C>G (p.Ala79=) c.174C>G (p.Ala58=) | dbSNP |
| 6 | g.36684236C>T | CA450129272 | CDKN1A | c.135C>T (p.Ala45=) n.329C>T n.354C>T c.237C>T (p.Ala79=) c.174C>T (p.Ala58=) | dbSNP |
| 6 | g.36684237C>A | CA363834105 | CDKN1A | c.136C>A (p.Arg46Ser) n.330C>A n.355C>A c.238C>A (p.Arg80Ser) c.175C>A (p.Arg59Ser) | dbSNP |
| 6 | g.36684237C= | CA1621456938 | CDKN1A | c.136C= (p.Arg46=) n.330C= n.355C= c.238C= (p.Arg80=) c.175C= (p.Arg59=) | |
| 6 | g.36684237C>G | CA363834106 | CDKN1A | c.136C>G (p.Arg46Gly) n.330C>G n.355C>G c.238C>G (p.Arg80Gly) c.175C>G (p.Arg59Gly) | dbSNP |
| 6 | g.36684237C>T | CA3780340 | CDKN1A | c.136C>T (p.Arg46Cys) n.330C>T n.355C>T c.238C>T (p.Arg80Cys) c.175C>T (p.Arg59Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684238G>A | CA363834107 | CDKN1A | c.137G>A (p.Arg46His) n.331G>A n.356G>A c.239G>A (p.Arg80His) c.176G>A (p.Arg59His) | dbSNP gnomAD v4 |
| 6 | g.36684238G>C | CA363834108 | CDKN1A | c.137G>C (p.Arg46Pro) n.331G>C n.356G>C c.239G>C (p.Arg80Pro) c.176G>C (p.Arg59Pro) | dbSNP |
| 6 | g.36684238G= | CA1621456939 | CDKN1A | c.137G= (p.Arg46=) n.331G= n.356G= c.239G= (p.Arg80=) c.176G= (p.Arg59=) | |
| 6 | g.36684238G>T | CA363834109 | CDKN1A | c.137G>T (p.Arg46Leu) n.331G>T n.356G>T c.239G>T (p.Arg80Leu) c.176G>T (p.Arg59Leu) | |
| 6 | g.36684239T>A | CA450129276 | CDKN1A | c.138T>A (p.Arg46=) n.332T>A n.357T>A c.240T>A (p.Arg80=) c.177T>A (p.Arg59=) | |
| 6 | g.36684239T>C | CA450129277 | CDKN1A | c.138T>C (p.Arg46=) n.332T>C n.357T>C c.240T>C (p.Arg80=) c.177T>C (p.Arg59=) | gnomAD v4 |
| 6 | g.36684239T>G | CA450129278 | CDKN1A | c.138T>G (p.Arg46=) n.332T>G n.357T>G c.240T>G (p.Arg80=) c.177T>G (p.Arg59=) | |
| 6 | g.36684240G>A | CA363834110 | CDKN1A | c.139G>A (p.Glu47Lys) n.333G>A n.358G>A c.241G>A (p.Glu81Lys) c.178G>A (p.Glu60Lys) | dbSNP |
| 6 | g.36684240G>C | CA363834111 | CDKN1A | c.139G>C (p.Glu47Gln) n.333G>C n.358G>C c.241G>C (p.Glu81Gln) c.178G>C (p.Glu60Gln) | dbSNP |
| 6 | g.36684240G>T | CA363834112 | CDKN1A | c.139G>T (p.Glu47Ter) n.333G>T n.358G>T c.241G>T (p.Glu81Ter) c.178G>T (p.Glu60Ter) | dbSNP gnomAD v4 COSMIC |
| 6 | g.36684241A>C | CA363834113 | CDKN1A | c.140A>C (p.Glu47Ala) n.334A>C n.359A>C c.242A>C (p.Glu81Ala) c.179A>C (p.Glu60Ala) | |
| 6 | g.36684241A>G | CA363834115 | CDKN1A | c.140A>G (p.Glu47Gly) n.334A>G n.359A>G c.242A>G (p.Glu81Gly) c.179A>G (p.Glu60Gly) | |
| 6 | g.36684241A>T | CA363834114 | CDKN1A | c.140A>T (p.Glu47Val) n.334A>T n.359A>T c.242A>T (p.Glu81Val) c.179A>T (p.Glu60Val) | |
| 6 | g.36684241dup | CA2678466929 | CDKN1A | c.140dup (p.Arg48AlafsTer15) n.334dup n.359dup c.242dup (p.Arg82AlafsTer15) c.179dup (p.Arg61AlafsTer15) | gnomAD v4 |
| 6 | g.36684242del | CA2513470537 | CDKN1A | c.141del (p.Glu47AspfsTer?) n.335del n.360del c.243del (p.Glu81AspfsTer?) c.180del (p.Glu60AspfsTer?) | |
| 6 | g.36684242G>A | CA3780341 | CDKN1A | c.141G>A (p.Glu47=) n.335G>A n.360G>A c.243G>A (p.Glu81=) c.180G>A (p.Glu60=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684242G>C | CA363834117 | CDKN1A | c.141G>C (p.Glu47Asp) n.335G>C n.360G>C c.243G>C (p.Glu81Asp) c.180G>C (p.Glu60Asp) | dbSNP |
| 6 | g.36684242G= | CA1621456940 | CDKN1A | c.141G= (p.Glu47=) n.335G= n.360G= c.243G= (p.Glu81=) c.180G= (p.Glu60=) | |
| 6 | g.36684242G>T | CA363834116 | CDKN1A | c.141G>T (p.Glu47Asp) n.335G>T n.360G>T c.243G>T (p.Glu81Asp) c.180G>T (p.Glu60Asp) | |
| 6 | g.36684243C>A | CA450129280 | CDKN1A | c.142C>A (p.Arg48=) n.336C>A n.361C>A c.244C>A (p.Arg82=) c.181C>A (p.Arg61=) | dbSNP |
| 6 | g.36684243C= | CA1621456941 | CDKN1A | c.142C= (p.Arg48=) n.336C= n.361C= c.244C= (p.Arg82=) c.181C= (p.Arg61=) | |
| 6 | g.36684243C>G | CA363834118 | CDKN1A | c.142C>G (p.Arg48Gly) n.336C>G n.361C>G c.244C>G (p.Arg82Gly) c.181C>G (p.Arg61Gly) | dbSNP |
| 6 | g.36684243C>T | CA363834119 | CDKN1A | c.142C>T (p.Arg48Ter) n.336C>T n.361C>T c.244C>T (p.Arg82Ter) c.181C>T (p.Arg61Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.36684244G>A | CA3780342 | CDKN1A | c.143G>A (p.Arg48Gln) n.337G>A n.362G>A c.245G>A (p.Arg82Gln) c.182G>A (p.Arg61Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684244G>C | CA363834120 | CDKN1A | c.143G>C (p.Arg48Pro) n.337G>C n.362G>C c.245G>C (p.Arg82Pro) c.182G>C (p.Arg61Pro) | dbSNP |
| 6 | g.36684244G= | CA1621456942 | CDKN1A | c.143G= (p.Arg48=) n.337G= n.362G= c.245G= (p.Arg82=) c.182G= (p.Arg61=) | |
| 6 | g.36684244G>T | CA363834121 | CDKN1A | c.143G>T (p.Arg48Leu) n.337G>T n.362G>T c.245G>T (p.Arg82Leu) c.182G>T (p.Arg61Leu) | dbSNP gnomAD v4 |
| 6 | g.36684245A= | CA1621456943 | CDKN1A | c.144A= (p.Arg48=) n.338A= n.363A= c.246A= (p.Arg82=) c.183A= (p.Arg61=) | |
| 6 | g.36684245A>C | CA450129282 | CDKN1A | c.144A>C (p.Arg48=) n.338A>C n.363A>C c.246A>C (p.Arg82=) c.183A>C (p.Arg61=) | dbSNP |
| 6 | g.36684245A>G | CA450129284 | CDKN1A | c.144A>G (p.Arg48=) n.338A>G n.363A>G c.246A>G (p.Arg82=) c.183A>G (p.Arg61=) | dbSNP |
| 6 | g.36684245A>T | CA450129283 | CDKN1A | c.144A>T (p.Arg48=) n.338A>T n.363A>T c.246A>T (p.Arg82=) c.183A>T (p.Arg61=) | dbSNP |
| 6 | g.36684246T>A | CA363834122 | CDKN1A | c.145T>A (p.Trp49Arg) n.339T>A n.364T>A c.247T>A (p.Trp83Arg) c.184T>A (p.Trp62Arg) | dbSNP |
| 6 | g.36684246T>C | CA363834123 | CDKN1A | c.145T>C (p.Trp49Arg) n.339T>C n.364T>C c.247T>C (p.Trp83Arg) c.184T>C (p.Trp62Arg) | dbSNP COSMIC COSMIC |
| 6 | g.36684246T>G | CA363834124 | CDKN1A | c.145T>G (p.Trp49Gly) n.339T>G n.364T>G c.247T>G (p.Trp83Gly) c.184T>G (p.Trp62Gly) | dbSNP |
| 6 | g.36684247G>A | CA363834127 | CDKN1A | c.146G>A (p.Trp49Ter) n.340G>A n.365G>A c.248G>A (p.Trp83Ter) c.185G>A (p.Trp62Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.36684247G>C | CA363834126 | CDKN1A | c.146G>C (p.Trp49Ser) n.340G>C n.365G>C c.248G>C (p.Trp83Ser) c.185G>C (p.Trp62Ser) | ClinVar dbSNP |
| 6 | g.36684247G= | CA1621456944 | CDKN1A | c.146G= (p.Trp49=) n.340G= n.365G= c.248G= (p.Trp83=) c.185G= (p.Trp62=) | |
| 6 | g.36684247G>T | CA363834125 | CDKN1A | c.146G>T (p.Trp49Leu) n.340G>T n.365G>T c.248G>T (p.Trp83Leu) c.185G>T (p.Trp62Leu) | |
| 6 | g.36684248G>A | CA363834128 | CDKN1A | c.147G>A (p.Trp49Ter) n.341G>A n.366G>A c.249G>A (p.Trp83Ter) c.186G>A (p.Trp62Ter) | dbSNP |
| 6 | g.36684248G>C | CA363834129 | CDKN1A | c.147G>C (p.Trp49Cys) n.341G>C n.366G>C c.249G>C (p.Trp83Cys) c.186G>C (p.Trp62Cys) | dbSNP |
| 6 | g.36684248G>T | CA363834130 | CDKN1A | c.147G>T (p.Trp49Cys) n.341G>T n.366G>T c.249G>T (p.Trp83Cys) c.186G>T (p.Trp62Cys) | dbSNP |
| 6 | g.36684249A>C | CA363834131 | CDKN1A | c.148A>C (p.Asn50His) n.342A>C n.367A>C c.250A>C (p.Asn84His) c.187A>C (p.Asn63His) | dbSNP |
| 6 | g.36684249A>G | CA363834132 | CDKN1A | c.148A>G (p.Asn50Asp) n.342A>G n.367A>G c.250A>G (p.Asn84Asp) c.187A>G (p.Asn63Asp) | |
| 6 | g.36684249A>T | CA363834133 | CDKN1A | c.148A>T (p.Asn50Tyr) n.342A>T n.367A>T c.250A>T (p.Asn84Tyr) c.187A>T (p.Asn63Tyr) | dbSNP |
| 6 | g.36684250A>C | CA363834134 | CDKN1A | c.149A>C (p.Asn50Thr) n.343A>C n.368A>C c.251A>C (p.Asn84Thr) c.188A>C (p.Asn63Thr) | dbSNP |
| 6 | g.36684250A>G | CA363834136 | CDKN1A | c.149A>G (p.Asn50Ser) n.343A>G n.368A>G c.251A>G (p.Asn84Ser) c.188A>G (p.Asn63Ser) | dbSNP gnomAD v4 |
| 6 | g.36684250A>T | CA363834135 | CDKN1A | c.149A>T (p.Asn50Ile) n.343A>T n.368A>T c.251A>T (p.Asn84Ile) c.188A>T (p.Asn63Ile) | dbSNP |
| 6 | g.36684251C>A | CA363834137 | CDKN1A | c.150C>A (p.Asn50Lys) n.344C>A n.369C>A c.252C>A (p.Asn84Lys) c.189C>A (p.Asn63Lys) | |
| 6 | g.36684251C>G | CA363834138 | CDKN1A | c.150C>G (p.Asn50Lys) n.344C>G n.369C>G c.252C>G (p.Asn84Lys) c.189C>G (p.Asn63Lys) | dbSNP |
| 6 | g.36684251C>T | CA450129290 | CDKN1A | c.150C>T (p.Asn50=) n.344C>T n.369C>T c.252C>T (p.Asn84=) c.189C>T (p.Asn63=) | dbSNP |
| 6 | g.36684251_36684258delinsCTTCGACT | CA1621456945 | CDKN1A | c.150_157delinsCTTCGACT (p.Asn50=) n.344_351delinsCTTCGACT n.369_376delinsCTTCGACT c.252_259delinsCTTCGACT (p.Asn84=) c.189_196delinsCTTCGACT (p.Asn63=) | |
| 6 | g.36684252T>A | CA363834139 | CDKN1A | c.151T>A (p.Phe51Ile) n.345T>A n.370T>A c.253T>A (p.Phe85Ile) c.190T>A (p.Phe64Ile) | dbSNP |
| 6 | g.36684252T>C | CA137422976 | CDKN1A | c.151T>C (p.Phe51Leu) n.345T>C n.370T>C c.253T>C (p.Phe85Leu) c.190T>C (p.Phe64Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684252T>G | CA363834140 | CDKN1A | c.151T>G (p.Phe51Val) n.345T>G n.370T>G c.253T>G (p.Phe85Val) c.190T>G (p.Phe64Val) | COSMIC COSMIC |
| 6 | g.36684252T= | CA1621456947 | CDKN1A | c.151T= (p.Phe51=) n.345T= n.370T= c.253T= (p.Phe85=) c.190T= (p.Phe64=) | |
| 6 | g.36684254_36684260del | CA1621456946 | CDKN1A | c.153_159del (p.Phe51LeufsTer?) n.347_353del n.372_378del c.255_261del (p.Phe85LeufsTer?) c.192_198del (p.Phe64LeufsTer?) | dbSNP |
| 6 | g.36684253T>A | CA363834141 | CDKN1A | c.152T>A (p.Phe51Tyr) n.346T>A n.371T>A c.254T>A (p.Phe85Tyr) c.191T>A (p.Phe64Tyr) | dbSNP |
| 6 | g.36684253T>C | CA363834142 | CDKN1A | c.152T>C (p.Phe51Ser) n.346T>C n.371T>C c.254T>C (p.Phe85Ser) c.191T>C (p.Phe64Ser) | dbSNP |
| 6 | g.36684253T>G | CA363834143 | CDKN1A | c.152T>G (p.Phe51Cys) n.346T>G n.371T>G c.254T>G (p.Phe85Cys) c.191T>G (p.Phe64Cys) | |
| 6 | g.36684254C>A | CA363834144 | CDKN1A | c.153C>A (p.Phe51Leu) n.347C>A n.372C>A c.255C>A (p.Phe85Leu) c.192C>A (p.Phe64Leu) | dbSNP |
| 6 | g.36684254C= | CA1621456948 | CDKN1A | c.153C= (p.Phe51=) n.347C= n.372C= c.255C= (p.Phe85=) c.192C= (p.Phe64=) | |
| 6 | g.36684254C>G | CA363834145 | CDKN1A | c.153C>G (p.Phe51Leu) n.347C>G n.372C>G c.255C>G (p.Phe85Leu) c.192C>G (p.Phe64Leu) | dbSNP |
| 6 | g.36684254C>T | CA3780343 | CDKN1A | c.153C>T (p.Phe51=) n.347C>T n.372C>T c.255C>T (p.Phe85=) c.192C>T (p.Phe64=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684255G>A | CA137423009 | CDKN1A | c.154G>A (p.Asp52Asn) n.348G>A n.373G>A c.256G>A (p.Asp86Asn) c.193G>A (p.Asp65Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.36684255G>C | CA363834147 | CDKN1A | c.154G>C (p.Asp52His) n.348G>C n.373G>C c.256G>C (p.Asp86His) c.193G>C (p.Asp65His) | ClinVar dbSNP gnomAD v4 |
| 6 | g.36684255G= | CA1621456949 | CDKN1A | c.154G= (p.Asp52=) n.348G= n.373G= c.256G= (p.Asp86=) c.193G= (p.Asp65=) | |
| 6 | g.36684255G>T | CA363834146 | CDKN1A | c.154G>T (p.Asp52Tyr) n.348G>T n.373G>T c.256G>T (p.Asp86Tyr) c.193G>T (p.Asp65Tyr) | dbSNP |
| 6 | g.36684256A>C | CA363834148 | CDKN1A | c.155A>C (p.Asp52Ala) n.349A>C n.374A>C c.257A>C (p.Asp86Ala) c.194A>C (p.Asp65Ala) | dbSNP |
| 6 | g.36684256A>G | CA363834149 | CDKN1A | c.155A>G (p.Asp52Gly) n.349A>G n.374A>G c.257A>G (p.Asp86Gly) c.194A>G (p.Asp65Gly) | |
| 6 | g.36684256A>T | CA363834150 | CDKN1A | c.155A>T (p.Asp52Val) n.349A>T n.374A>T c.257A>T (p.Asp86Val) c.194A>T (p.Asp65Val) | dbSNP |
| 6 | g.36684257C>A | CA363834151 | CDKN1A | c.156C>A (p.Asp52Glu) n.350C>A n.375C>A c.258C>A (p.Asp86Glu) c.195C>A (p.Asp65Glu) | |
| 6 | g.36684257C= | CA1621456950 | CDKN1A | c.156C= (p.Asp52=) n.350C= n.375C= c.258C= (p.Asp86=) c.195C= (p.Asp65=) | |
| 6 | g.36684257C>G | CA3780344 | CDKN1A | c.156C>G (p.Asp52Glu) n.350C>G n.375C>G c.258C>G (p.Asp86Glu) c.195C>G (p.Asp65Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684257C>T | CA450129292 | CDKN1A | c.156C>T (p.Asp52=) n.350C>T n.375C>T c.258C>T (p.Asp86=) c.195C>T (p.Asp65=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36684258T>A | CA363834152 | CDKN1A | c.157T>A (p.Phe53Ile) n.351T>A n.376T>A c.259T>A (p.Phe87Ile) c.196T>A (p.Phe66Ile) | |
| 6 | g.36684258T>C | CA363834153 | CDKN1A | c.157T>C (p.Phe53Leu) n.351T>C n.376T>C c.259T>C (p.Phe87Leu) c.196T>C (p.Phe66Leu) | |
| 6 | g.36684258T>G | CA363834154 | CDKN1A | c.157T>G (p.Phe53Val) n.351T>G n.376T>G c.259T>G (p.Phe87Val) c.196T>G (p.Phe66Val) | |
| 6 | g.36684259T>A | CA363834155 | CDKN1A | c.158T>A (p.Phe53Tyr) n.352T>A n.377T>A c.260T>A (p.Phe87Tyr) c.197T>A (p.Phe66Tyr) | |
| 6 | g.36684259T>C | CA363834156 | CDKN1A | c.158T>C (p.Phe53Ser) n.352T>C n.377T>C c.260T>C (p.Phe87Ser) c.197T>C (p.Phe66Ser) | |
| 6 | g.36684259T>G | CA363834157 | CDKN1A | c.158T>G (p.Phe53Cys) n.352T>G n.377T>G c.260T>G (p.Phe87Cys) c.197T>G (p.Phe66Cys) | |
| 6 | g.36684260T>A | CA363834158 | CDKN1A | c.159T>A (p.Phe53Leu) n.353T>A n.378T>A c.261T>A (p.Phe87Leu) c.198T>A (p.Phe66Leu) | |
| 6 | g.36684260T>C | CA450129294 | CDKN1A | c.159T>C (p.Phe53=) n.353T>C n.378T>C c.261T>C (p.Phe87=) c.198T>C (p.Phe66=) | |
| 6 | g.36684260T>G | CA363834159 | CDKN1A | c.159T>G (p.Phe53Leu) n.353T>G n.378T>G c.261T>G (p.Phe87Leu) c.198T>G (p.Phe66Leu) | |
| 6 | g.36684261G>A | CA363834160 | CDKN1A | c.160G>A (p.Val54Ile) n.354G>A n.379G>A c.262G>A (p.Val88Ile) c.199G>A (p.Val67Ile) | |
| 6 | g.36684261G>C | CA363834162 | CDKN1A | c.160G>C (p.Val54Leu) n.354G>C n.379G>C c.262G>C (p.Val88Leu) c.199G>C (p.Val67Leu) | |
| 6 | g.36684261G>T | CA363834161 | CDKN1A | c.160G>T (p.Val54Phe) n.354G>T n.379G>T c.262G>T (p.Val88Phe) c.199G>T (p.Val67Phe) | gnomAD v4 |
| 6 | g.36684262T>A | CA363834163 | CDKN1A | c.161T>A (p.Val54Asp) n.355T>A n.380T>A c.263T>A (p.Val88Asp) c.200T>A (p.Val67Asp) | |
| 6 | g.36684262T>C | CA3780345 | CDKN1A | c.161T>C (p.Val54Ala) n.355T>C n.380T>C c.263T>C (p.Val88Ala) c.200T>C (p.Val67Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684262T>G | CA363834164 | CDKN1A | c.161T>G (p.Val54Gly) n.355T>G n.380T>G c.263T>G (p.Val88Gly) c.200T>G (p.Val67Gly) | |
| 6 | g.36684262T= | CA1621456951 | CDKN1A | c.161T= (p.Val54=) n.355T= n.380T= c.263T= (p.Val88=) c.200T= (p.Val67=) | |
| 6 | g.36684263C>A | CA450129297 | CDKN1A | c.162C>A (p.Val54=) n.356C>A n.381C>A c.264C>A (p.Val88=) c.201C>A (p.Val67=) | |
| 6 | g.36684263C= | CA1621456952 | CDKN1A | c.162C= (p.Val54=) n.356C= n.381C= c.264C= (p.Val88=) c.201C= (p.Val67=) | |
| 6 | g.36684263C>G | CA450129298 | CDKN1A | c.162C>G (p.Val54=) n.356C>G n.381C>G c.264C>G (p.Val88=) c.201C>G (p.Val67=) | dbSNP |
| 6 | g.36684263C>T | CA3780346 | CDKN1A | c.162C>T (p.Val54=) n.356C>T n.381C>T c.264C>T (p.Val88=) c.201C>T (p.Val67=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684264A= | CA1621456953 | CDKN1A | c.163A= (p.Thr55=) n.357A= n.382A= c.265A= (p.Thr89=) c.202A= (p.Thr68=) | |
| 6 | g.36684264A>C | CA363834165 | CDKN1A | c.163A>C (p.Thr55Pro) n.357A>C n.382A>C c.265A>C (p.Thr89Pro) c.202A>C (p.Thr68Pro) | dbSNP |
| 6 | g.36684264A>G | CA363834166 | CDKN1A | c.163A>G (p.Thr55Ala) n.357A>G n.382A>G c.265A>G (p.Thr89Ala) c.202A>G (p.Thr68Ala) | dbSNP gnomAD v4 |
| 6 | g.36684264A>T | CA363834167 | CDKN1A | c.163A>T (p.Thr55Ser) n.357A>T n.382A>T c.265A>T (p.Thr89Ser) c.202A>T (p.Thr68Ser) | dbSNP |
| 6 | g.36684265C>A | CA363834168 | CDKN1A | c.164C>A (p.Thr55Asn) n.358C>A n.383C>A c.266C>A (p.Thr89Asn) c.203C>A (p.Thr68Asn) | dbSNP |
| 6 | g.36684265C>G | CA363834169 | CDKN1A | c.164C>G (p.Thr55Ser) n.358C>G n.383C>G c.266C>G (p.Thr89Ser) c.203C>G (p.Thr68Ser) | dbSNP |
| 6 | g.36684265C>T | CA363834170 | CDKN1A | c.164C>T (p.Thr55Ile) n.358C>T n.383C>T c.266C>T (p.Thr89Ile) c.203C>T (p.Thr68Ile) | dbSNP gnomAD v4 |
| 6 | g.36684266C>A | CA450129302 | CDKN1A | c.165C>A (p.Thr55=) n.359C>A n.384C>A c.267C>A (p.Thr89=) c.204C>A (p.Thr68=) | dbSNP |
| 6 | g.36684266C= | CA1621456954 | CDKN1A | c.165C= (p.Thr55=) n.359C= n.384C= c.267C= (p.Thr89=) c.204C= (p.Thr68=) | |
| 6 | g.36684266C>G | CA450129303 | CDKN1A | c.165C>G (p.Thr55=) n.359C>G n.384C>G c.267C>G (p.Thr89=) c.204C>G (p.Thr68=) | dbSNP gnomAD v4 |
| 6 | g.36684266C>T | CA3780347 | CDKN1A | c.165C>T (p.Thr55=) n.359C>T n.384C>T c.267C>T (p.Thr89=) c.204C>T (p.Thr68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684267G>A | CA3780348 | CDKN1A | c.166G>A (p.Glu56Lys) n.360G>A n.385G>A c.268G>A (p.Glu90Lys) c.205G>A (p.Glu69Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684267G>C | CA363834171 | CDKN1A | c.166G>C (p.Glu56Gln) n.360G>C n.385G>C c.268G>C (p.Glu90Gln) c.205G>C (p.Glu69Gln) | dbSNP |
| 6 | g.36684267G= | CA1621456955 | CDKN1A | c.166G= (p.Glu56=) n.360G= n.385G= c.268G= (p.Glu90=) c.205G= (p.Glu69=) | |
| 6 | g.36684267G>T | CA363834172 | CDKN1A | c.166G>T (p.Glu56Ter) n.360G>T n.385G>T c.268G>T (p.Glu90Ter) c.205G>T (p.Glu69Ter) | gnomAD v4 COSMIC COSMIC |
| 6 | g.36684268A>C | CA363834173 | CDKN1A | c.167A>C (p.Glu56Ala) n.361A>C n.386A>C c.269A>C (p.Glu90Ala) c.206A>C (p.Glu69Ala) | |
| 6 | g.36684268A>G | CA363834174 | CDKN1A | c.167A>G (p.Glu56Gly) n.361A>G n.386A>G c.269A>G (p.Glu90Gly) c.206A>G (p.Glu69Gly) | dbSNP |
| 6 | g.36684268A>T | CA363834175 | CDKN1A | c.167A>T (p.Glu56Val) n.361A>T n.386A>T c.269A>T (p.Glu90Val) c.206A>T (p.Glu69Val) | dbSNP gnomAD v4 |
| 6 | g.36684269G>A | CA450129307 | CDKN1A | c.168G>A (p.Glu56=) n.362G>A n.387G>A c.270G>A (p.Glu90=) c.207G>A (p.Glu69=) | dbSNP |
| 6 | g.36684269G>C | CA363834176 | CDKN1A | c.168G>C (p.Glu56Asp) n.362G>C n.387G>C c.270G>C (p.Glu90Asp) c.207G>C (p.Glu69Asp) | dbSNP |
| 6 | g.36684269G>T | CA363834177 | CDKN1A | c.168G>T (p.Glu56Asp) n.362G>T n.387G>T c.270G>T (p.Glu90Asp) c.207G>T (p.Glu69Asp) | gnomAD v4 |
| 6 | g.36684270A= | CA1621456956 | CDKN1A | c.169A= (p.Thr57=) n.363A= n.388A= c.271A= (p.Thr91=) c.208A= (p.Thr70=) | |
| 6 | g.36684270A>C | CA363834178 | CDKN1A | c.169A>C (p.Thr57Pro) n.363A>C n.388A>C c.271A>C (p.Thr91Pro) c.208A>C (p.Thr70Pro) | dbSNP |
| 6 | g.36684270A>G | CA137423066 | CDKN1A | c.169A>G (p.Thr57Ala) n.363A>G n.388A>G c.271A>G (p.Thr91Ala) c.208A>G (p.Thr70Ala) | dbSNP gnomAD v4 |
| 6 | g.36684270A>T | CA363834179 | CDKN1A | c.169A>T (p.Thr57Ser) n.363A>T n.388A>T c.271A>T (p.Thr91Ser) c.208A>T (p.Thr70Ser) | dbSNP |
| 6 | g.36684271C>A | CA363834180 | CDKN1A | c.170C>A (p.Thr57Lys) n.364C>A n.389C>A c.272C>A (p.Thr91Lys) c.209C>A (p.Thr70Lys) | dbSNP |
| 6 | g.36684271C= | CA1621456957 | CDKN1A | c.170C= (p.Thr57=) n.364C= n.389C= c.272C= (p.Thr91=) c.209C= (p.Thr70=) | |
| 6 | g.36684271C>G | CA363834181 | CDKN1A | c.170C>G (p.Thr57Arg) n.364C>G n.389C>G c.272C>G (p.Thr91Arg) c.209C>G (p.Thr70Arg) | dbSNP COSMIC COSMIC |
| 6 | g.36684271C>T | CA137423073 | CDKN1A | c.170C>T (p.Thr57Ile) n.364C>T n.389C>T c.272C>T (p.Thr91Ile) c.209C>T (p.Thr70Ile) | dbSNP gnomAD v4 |
| 6 | g.36684272A>C | CA450129311 | CDKN1A | c.171A>C (p.Thr57=) n.365A>C n.390A>C c.273A>C (p.Thr91=) c.210A>C (p.Thr70=) | |
| 6 | g.36684272A>G | CA450129312 | CDKN1A | c.171A>G (p.Thr57=) n.365A>G n.390A>G c.273A>G (p.Thr91=) c.210A>G (p.Thr70=) | dbSNP |
| 6 | g.36684272A>T | CA450129313 | CDKN1A | c.171A>T (p.Thr57=) n.365A>T n.390A>T c.273A>T (p.Thr91=) c.210A>T (p.Thr70=) | |
| 6 | g.36684273C>A | CA363834184 | CDKN1A | c.172C>A (p.Pro58Thr) n.366C>A n.391C>A c.274C>A (p.Pro92Thr) c.211C>A (p.Pro71Thr) | dbSNP |
| 6 | g.36684273C>G | CA363834182 | CDKN1A | c.172C>G (p.Pro58Ala) n.366C>G n.391C>G c.274C>G (p.Pro92Ala) c.211C>G (p.Pro71Ala) | dbSNP |
| 6 | g.36684273C>T | CA363834183 | CDKN1A | c.172C>T (p.Pro58Ser) n.366C>T n.391C>T c.274C>T (p.Pro92Ser) c.211C>T (p.Pro71Ser) | |
| 6 | g.36684274C>A | CA363834185 | CDKN1A | c.173C>A (p.Pro58Gln) n.367C>A n.392C>A c.275C>A (p.Pro92Gln) c.212C>A (p.Pro71Gln) | |
| 6 | g.36684274C>G | CA363834186 | CDKN1A | c.173C>G (p.Pro58Arg) n.367C>G n.392C>G c.275C>G (p.Pro92Arg) c.212C>G (p.Pro71Arg) | dbSNP |
| 6 | g.36684274C>T | CA363834187 | CDKN1A | c.173C>T (p.Pro58Leu) n.367C>T n.392C>T c.275C>T (p.Pro92Leu) c.212C>T (p.Pro71Leu) | dbSNP |
| 6 | g.36684275A>C | CA450129317 | CDKN1A | c.174A>C (p.Pro58=) n.368A>C n.393A>C c.276A>C (p.Pro92=) c.213A>C (p.Pro71=) | dbSNP |
| 6 | g.36684275A>G | CA450129318 | CDKN1A | c.174A>G (p.Pro58=) n.368A>G n.393A>G c.276A>G (p.Pro92=) c.213A>G (p.Pro71=) | |
| 6 | g.36684275A>T | CA450129319 | CDKN1A | c.174A>T (p.Pro58=) n.368A>T n.393A>T c.276A>T (p.Pro92=) c.213A>T (p.Pro71=) | dbSNP |
| 6 | g.36684276C>A | CA363834188 | CDKN1A | c.175C>A (p.Leu59Met) n.369C>A n.394C>A c.277C>A (p.Leu93Met) c.214C>A (p.Leu72Met) | |
| 6 | g.36684276C= | CA1621456958 | CDKN1A | c.175C= (p.Leu59=) n.369C= n.394C= c.277C= (p.Leu93=) c.214C= (p.Leu72=) | |
| 6 | g.36684276C>G | CA363834189 | CDKN1A | c.175C>G (p.Leu59Val) n.369C>G n.394C>G c.277C>G (p.Leu93Val) c.214C>G (p.Leu72Val) | dbSNP |
| 6 | g.36684276C>T | CA450129321 | CDKN1A | c.175C>T (p.Leu59=) n.369C>T n.394C>T c.277C>T (p.Leu93=) c.214C>T (p.Leu72=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684277T>A | CA363834190 | CDKN1A | c.176T>A (p.Leu59Gln) n.370T>A n.395T>A c.278T>A (p.Leu93Gln) c.215T>A (p.Leu72Gln) | |
| 6 | g.36684277T>C | CA363834191 | CDKN1A | c.176T>C (p.Leu59Pro) n.370T>C n.395T>C c.278T>C (p.Leu93Pro) c.215T>C (p.Leu72Pro) | |
| 6 | g.36684277T>G | CA363834192 | CDKN1A | c.176T>G (p.Leu59Arg) n.370T>G n.395T>G c.278T>G (p.Leu93Arg) c.215T>G (p.Leu72Arg) | |
| 6 | g.36684278G>A | CA450129322 | CDKN1A | c.177G>A (p.Leu59=) n.371G>A n.396G>A c.279G>A (p.Leu93=) c.216G>A (p.Leu72=) | dbSNP |
| 6 | g.36684278G>C | CA450129323 | CDKN1A | c.177G>C (p.Leu59=) n.371G>C n.396G>C c.279G>C (p.Leu93=) c.216G>C (p.Leu72=) | dbSNP |
| 6 | g.36684278G= | CA1621456959 | CDKN1A | c.177G= (p.Leu59=) n.371G= n.396G= c.279G= (p.Leu93=) c.216G= (p.Leu72=) | |
| 6 | g.36684278G>T | CA450129324 | CDKN1A | c.177G>T (p.Leu59=) n.371G>T n.396G>T c.279G>T (p.Leu93=) c.216G>T (p.Leu72=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36684278_36684279insTGATGCGCTAATGGCGGGCTGCATCCAG | CA2711436661 | CDKN1A | c.177_178insTGATGCGCTAATGGCGGGCTGCATCCAG (p.Glu60Ter) n.371_372insTGATGCGCTAATGGCGGGCTGCATCCAG n.396_397insTGATGCGCTAATGGCGGGCTGCATCCAG c.279_280insTGATGCGCTAATGGCGGGCTGCATCCAG (p.Glu94Ter) c.216_217insTGATGCGCTAATGGCGGGCTGCATCCAG (p.Glu73Ter) | dbSNP |
| 6 | g.36684279dup | CA645558391 | CDKN1A | c.178dup (p.Glu60GlyfsTer3) n.372dup n.397dup c.280dup (p.Glu94GlyfsTer3) c.217dup (p.Glu73GlyfsTer3) | COSMIC COSMIC |
| 6 | g.36684279G>A | CA363834193 | CDKN1A | c.178G>A (p.Glu60Lys) n.372G>A n.397G>A c.280G>A (p.Glu94Lys) c.217G>A (p.Glu73Lys) | dbSNP |
| 6 | g.36684279G>C | CA363834194 | CDKN1A | c.178G>C (p.Glu60Gln) n.372G>C n.397G>C c.280G>C (p.Glu94Gln) c.217G>C (p.Glu73Gln) | dbSNP |
| 6 | g.36684279G>T | CA363834195 | CDKN1A | c.178G>T (p.Glu60Ter) n.372G>T n.397G>T c.280G>T (p.Glu94Ter) c.217G>T (p.Glu73Ter) | dbSNP gnomAD v4 COSMIC |
| 6 | g.36684280A>C | CA363834197 | CDKN1A | c.179A>C (p.Glu60Ala) n.373A>C n.398A>C c.281A>C (p.Glu94Ala) c.218A>C (p.Glu73Ala) | |
| 6 | g.36684280A>G | CA363834198 | CDKN1A | c.179A>G (p.Glu60Gly) n.373A>G n.398A>G c.281A>G (p.Glu94Gly) c.218A>G (p.Glu73Gly) | dbSNP |
| 6 | g.36684280A>T | CA363834196 | CDKN1A | c.179A>T (p.Glu60Val) n.373A>T n.398A>T c.281A>T (p.Glu94Val) c.218A>T (p.Glu73Val) | dbSNP |
| 6 | g.36684281G>A | CA450129325 | CDKN1A | c.180G>A (p.Glu60=) n.374G>A n.399G>A c.282G>A (p.Glu94=) c.219G>A (p.Glu73=) | dbSNP |
| 6 | g.36684281G>C | CA363834199 | CDKN1A | c.180G>C (p.Glu60Asp) n.374G>C n.399G>C c.282G>C (p.Glu94Asp) c.219G>C (p.Glu73Asp) | dbSNP |
| 6 | g.36684281G>T | CA363834200 | CDKN1A | c.180G>T (p.Glu60Asp) n.374G>T n.399G>T c.282G>T (p.Glu94Asp) c.219G>T (p.Glu73Asp) | dbSNP gnomAD v4 |
| 6 | g.36684283del | CA2508896970 | CDKN1A | c.182del (p.Gly61ValfsTer?) n.376del n.401del c.284del (p.Gly95ValfsTer?) c.221del (p.Gly74ValfsTer?) | gnomAD v4 |
| 6 | g.36684282G>A | CA363834201 | CDKN1A | c.181G>A (p.Gly61Ser) n.375G>A n.400G>A c.283G>A (p.Gly95Ser) c.220G>A (p.Gly74Ser) | dbSNP gnomAD v4 |
| 6 | g.36684282G>C | CA3780349 | CDKN1A | c.181G>C (p.Gly61Arg) n.375G>C n.400G>C c.283G>C (p.Gly95Arg) c.220G>C (p.Gly74Arg) | dbSNP ExAC gnomAD v2 |
| 6 | g.36684282G= | CA1621456960 | CDKN1A | c.181G= (p.Gly61=) n.375G= n.400G= c.283G= (p.Gly95=) c.220G= (p.Gly74=) | |
| 6 | g.36684282G>T | CA363834202 | CDKN1A | c.181G>T (p.Gly61Cys) n.375G>T n.400G>T c.283G>T (p.Gly95Cys) c.220G>T (p.Gly74Cys) | gnomAD v4 |
| 6 | g.36684283G>A | CA3780350 | CDKN1A | c.182G>A (p.Gly61Asp) n.376G>A n.401G>A c.284G>A (p.Gly95Asp) c.221G>A (p.Gly74Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684283G>C | CA363834203 | CDKN1A | c.182G>C (p.Gly61Ala) n.376G>C n.401G>C c.284G>C (p.Gly95Ala) c.221G>C (p.Gly74Ala) | dbSNP |
| 6 | g.36684283G= | CA1621456961 | CDKN1A | c.182G= (p.Gly61=) n.376G= n.401G= c.284G= (p.Gly95=) c.221G= (p.Gly74=) | |
| 6 | g.36684283G>T | CA363834204 | CDKN1A | c.182G>T (p.Gly61Val) n.376G>T n.401G>T c.284G>T (p.Gly95Val) c.221G>T (p.Gly74Val) | COSMIC |
| 6 | g.36684284T>A | CA450129329 | CDKN1A | c.183T>A (p.Gly61=) n.377T>A n.402T>A c.285T>A (p.Gly95=) c.222T>A (p.Gly74=) | dbSNP |
| 6 | g.36684284T>C | CA450129331 | CDKN1A | c.183T>C (p.Gly61=) n.377T>C n.402T>C c.285T>C (p.Gly95=) c.222T>C (p.Gly74=) | |
| 6 | g.36684284T>G | CA450129332 | CDKN1A | c.183T>G (p.Gly61=) n.377T>G n.402T>G c.285T>G (p.Gly95=) c.222T>G (p.Gly74=) | dbSNP |
| 6 | g.36684285G>A | CA363834205 | CDKN1A | c.184G>A (p.Asp62Asn) n.378G>A n.403G>A c.286G>A (p.Asp96Asn) c.223G>A (p.Asp75Asn) | dbSNP |
| 6 | g.36684285G>C | CA363834206 | CDKN1A | c.184G>C (p.Asp62His) n.378G>C n.403G>C c.286G>C (p.Asp96His) c.223G>C (p.Asp75His) | dbSNP |
| 6 | g.36684285G>T | CA363834207 | CDKN1A | c.184G>T (p.Asp62Tyr) n.378G>T n.403G>T c.286G>T (p.Asp96Tyr) c.223G>T (p.Asp75Tyr) | COSMIC |
| 6 | g.36684286A>C | CA363834209 | CDKN1A | c.185A>C (p.Asp62Ala) n.379A>C n.404A>C c.287A>C (p.Asp96Ala) c.224A>C (p.Asp75Ala) | dbSNP |
| 6 | g.36684286A>G | CA363834210 | CDKN1A | c.185A>G (p.Asp62Gly) n.379A>G n.404A>G c.287A>G (p.Asp96Gly) c.224A>G (p.Asp75Gly) | dbSNP |
| 6 | g.36684286A>T | CA363834208 | CDKN1A | c.185A>T (p.Asp62Val) n.379A>T n.404A>T c.287A>T (p.Asp96Val) c.224A>T (p.Asp75Val) | dbSNP |
| 6 | g.36684287C>A | CA363834211 | CDKN1A | c.186C>A (p.Asp62Glu) n.380C>A n.405C>A c.288C>A (p.Asp96Glu) c.225C>A (p.Asp75Glu) | |
| 6 | g.36684287C>G | CA363834212 | CDKN1A | c.186C>G (p.Asp62Glu) n.380C>G n.405C>G c.288C>G (p.Asp96Glu) c.225C>G (p.Asp75Glu) | dbSNP |
| 6 | g.36684287C>T | CA450129334 | CDKN1A | c.186C>T (p.Asp62=) n.380C>T n.405C>T c.288C>T (p.Asp96=) c.225C>T (p.Asp75=) | dbSNP |
| 6 | g.36684288T>A | CA363834213 | CDKN1A | c.187T>A (p.Phe63Ile) n.381T>A n.406T>A c.289T>A (p.Phe97Ile) c.226T>A (p.Phe76Ile) | dbSNP |
| 6 | g.36684288T>C | CA363834214 | CDKN1A | c.187T>C (p.Phe63Leu) n.381T>C n.406T>C c.289T>C (p.Phe97Leu) c.226T>C (p.Phe76Leu) | dbSNP |
| 6 | g.36684288T>G | CA363834215 | CDKN1A | c.187T>G (p.Phe63Val) n.381T>G n.406T>G c.289T>G (p.Phe97Val) c.226T>G (p.Phe76Val) | |
| 6 | g.36684289dup | CA450129335 | CDKN1A | c.188dup (p.Ala64ArgfsTer25) n.382dup n.407dup c.290dup (p.Ala98ArgfsTer25) c.227dup (p.Ala77ArgfsTer25) | COSMIC |
| 6 | g.36684289T>A | CA363834218 | CDKN1A | c.188T>A (p.Phe63Tyr) n.382T>A n.407T>A c.290T>A (p.Phe97Tyr) c.227T>A (p.Phe76Tyr) | dbSNP |
| 6 | g.36684289T>C | CA363834216 | CDKN1A | c.188T>C (p.Phe63Ser) n.382T>C n.407T>C c.290T>C (p.Phe97Ser) c.227T>C (p.Phe76Ser) | dbSNP |
| 6 | g.36684289T>G | CA363834217 | CDKN1A | c.188T>G (p.Phe63Cys) n.382T>G n.407T>G c.290T>G (p.Phe97Cys) c.227T>G (p.Phe76Cys) | dbSNP |
| 6 | g.36684290C>A | CA3780351 | CDKN1A | c.189C>A (p.Phe63Leu) n.383C>A n.408C>A c.291C>A (p.Phe97Leu) c.228C>A (p.Phe76Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684290C= | CA1621456962 | CDKN1A | c.189C= (p.Phe63=) n.383C= n.408C= c.291C= (p.Phe97=) c.228C= (p.Phe76=) | |
| 6 | g.36684290C>G | CA363834219 | CDKN1A | c.189C>G (p.Phe63Leu) n.383C>G n.408C>G c.291C>G (p.Phe97Leu) c.228C>G (p.Phe76Leu) | dbSNP gnomAD v4 |
| 6 | g.36684290C>T | CA3780352 | CDKN1A | c.189C>T (p.Phe63=) n.383C>T n.408C>T c.291C>T (p.Phe97=) c.228C>T (p.Phe76=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684291G>A | CA3780353 | CDKN1A | c.190G>A (p.Ala64Thr) n.384G>A n.409G>A c.292G>A (p.Ala98Thr) c.229G>A (p.Ala77Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684291G>C | CA363834220 | CDKN1A | c.190G>C (p.Ala64Pro) n.384G>C n.409G>C c.292G>C (p.Ala98Pro) c.229G>C (p.Ala77Pro) | dbSNP |
| 6 | g.36684291G= | CA1621456963 | CDKN1A | c.190G= (p.Ala64=) n.384G= n.409G= c.292G= (p.Ala98=) c.229G= (p.Ala77=) | |
| 6 | g.36684291G>T | CA363834221 | CDKN1A | c.190G>T (p.Ala64Ser) n.384G>T n.409G>T c.292G>T (p.Ala98Ser) c.229G>T (p.Ala77Ser) | dbSNP |
| 6 | g.36684292C>A | CA363834223 | CDKN1A | c.191C>A (p.Ala64Asp) n.385C>A n.410C>A c.293C>A (p.Ala98Asp) c.230C>A (p.Ala77Asp) | dbSNP |
| 6 | g.36684292C>G | CA363834224 | CDKN1A | c.191C>G (p.Ala64Gly) n.385C>G n.410C>G c.293C>G (p.Ala98Gly) c.230C>G (p.Ala77Gly) | dbSNP |
| 6 | g.36684292C>T | CA363834222 | CDKN1A | c.191C>T (p.Ala64Val) n.385C>T n.410C>T c.293C>T (p.Ala98Val) c.230C>T (p.Ala77Val) | dbSNP |
| 6 | g.36684293C>A | CA450129338 | CDKN1A | c.192C>A (p.Ala64=) n.386C>A n.411C>A c.294C>A (p.Ala98=) c.231C>A (p.Ala77=) | |
| 6 | g.36684293C>G | CA450129340 | CDKN1A | c.192C>G (p.Ala64=) n.386C>G n.411C>G c.294C>G (p.Ala98=) c.231C>G (p.Ala77=) | dbSNP |
| 6 | g.36684293C>T | CA450129339 | CDKN1A | c.192C>T (p.Ala64=) n.386C>T n.411C>T c.294C>T (p.Ala98=) c.231C>T (p.Ala77=) | dbSNP COSMIC COSMIC |
| 6 | g.36684294T>A | CA363834227 | CDKN1A | c.193T>A (p.Trp65Arg) n.387T>A n.412T>A c.295T>A (p.Trp99Arg) c.232T>A (p.Trp78Arg) | COSMIC COSMIC |
| 6 | g.36684294T>C | CA363834225 | CDKN1A | c.193T>C (p.Trp65Arg) n.387T>C n.412T>C c.295T>C (p.Trp99Arg) c.232T>C (p.Trp78Arg) | |
| 6 | g.36684294T>G | CA363834226 | CDKN1A | c.193T>G (p.Trp65Gly) n.387T>G n.412T>G c.295T>G (p.Trp99Gly) c.232T>G (p.Trp78Gly) | |
| 6 | g.36684295G>A | CA363834228 | CDKN1A | c.194G>A (p.Trp65Ter) n.388G>A n.413G>A c.296G>A (p.Trp99Ter) c.233G>A (p.Trp78Ter) | dbSNP COSMIC COSMIC |
| 6 | g.36684295G>C | CA363834229 | CDKN1A | c.194G>C (p.Trp65Ser) n.388G>C n.413G>C c.296G>C (p.Trp99Ser) c.233G>C (p.Trp78Ser) | dbSNP |
| 6 | g.36684295G>T | CA363834230 | CDKN1A | c.194G>T (p.Trp65Leu) n.388G>T n.413G>T c.296G>T (p.Trp99Leu) c.233G>T (p.Trp78Leu) | dbSNP |
| 6 | g.36684296G>A | CA363834231 | CDKN1A | c.195G>A (p.Trp65Ter) n.389G>A n.414G>A c.297G>A (p.Trp99Ter) c.234G>A (p.Trp78Ter) | dbSNP |
| 6 | g.36684296G>C | CA363834232 | CDKN1A | c.195G>C (p.Trp65Cys) n.389G>C n.414G>C c.297G>C (p.Trp99Cys) c.234G>C (p.Trp78Cys) | dbSNP |
| 6 | g.36684296G>T | CA363834233 | CDKN1A | c.195G>T (p.Trp65Cys) n.389G>T n.414G>T c.297G>T (p.Trp99Cys) c.234G>T (p.Trp78Cys) | |
| 6 | g.36684296_36684297delinsAA | CA2582341694 | CDKN1A | c.195_196delinsAA (p.Trp65Ter) n.389_390delinsAA n.414_415delinsAA c.297_298delinsAA (p.Trp99Ter) c.234_235delinsAA (p.Trp78Ter) | ClinVar |
| 6 | g.36684297G>A | CA363834234 | CDKN1A | c.196G>A (p.Glu66Lys) n.390G>A n.415G>A c.298G>A (p.Glu100Lys) c.235G>A (p.Glu79Lys) | dbSNP gnomAD v4 |
| 6 | g.36684297G>C | CA363834235 | CDKN1A | c.196G>C (p.Glu66Gln) n.390G>C n.415G>C c.298G>C (p.Glu100Gln) c.235G>C (p.Glu79Gln) | dbSNP gnomAD v4 |
| 6 | g.36684297G= | CA1621456964 | CDKN1A | c.196G= (p.Glu66=) n.390G= n.415G= c.298G= (p.Glu100=) c.235G= (p.Glu79=) | |
| 6 | g.36684297G>T | CA363834236 | CDKN1A | c.196G>T (p.Glu66Ter) n.390G>T n.415G>T c.298G>T (p.Glu100Ter) c.235G>T (p.Glu79Ter) | dbSNP gnomAD v4 |
| 6 | g.36684298A>C | CA363834237 | CDKN1A | c.197A>C (p.Glu66Ala) n.391A>C n.416A>C c.299A>C (p.Glu100Ala) c.236A>C (p.Glu79Ala) | |
| 6 | g.36684298A>G | CA363834238 | CDKN1A | c.197A>G (p.Glu66Gly) n.391A>G n.416A>G c.299A>G (p.Glu100Gly) c.236A>G (p.Glu79Gly) | dbSNP |
| 6 | g.36684298A>T | CA363834239 | CDKN1A | c.197A>T (p.Glu66Val) n.391A>T n.416A>T c.299A>T (p.Glu100Val) c.236A>T (p.Glu79Val) | dbSNP |
| 6 | g.36684298dup | CA2739317454 | CDKN1A | c.197dup (p.Arg67AlafsTer22) n.391dup n.416dup c.299dup (p.Arg101AlafsTer22) c.236dup (p.Arg80AlafsTer22) | |
| 6 | g.36684299G>A | CA450129343 | CDKN1A | c.198G>A (p.Glu66=) n.392G>A n.417G>A c.300G>A (p.Glu100=) c.237G>A (p.Glu79=) | dbSNP gnomAD v4 |
| 6 | g.36684299G>C | CA363834241 | CDKN1A | c.198G>C (p.Glu66Asp) n.392G>C n.417G>C c.300G>C (p.Glu100Asp) c.237G>C (p.Glu79Asp) | dbSNP |
| 6 | g.36684299G>T | CA363834240 | CDKN1A | c.198G>T (p.Glu66Asp) n.392G>T n.417G>T c.300G>T (p.Glu100Asp) c.237G>T (p.Glu79Asp) | |
| 6 | g.36684300C>A | CA363834242 | CDKN1A | c.199C>A (p.Arg67Ser) n.393C>A n.418C>A c.301C>A (p.Arg101Ser) c.238C>A (p.Arg80Ser) | dbSNP |
| 6 | g.36684300C= | CA1621456965 | CDKN1A | c.199C= (p.Arg67=) n.393C= n.418C= c.301C= (p.Arg101=) c.238C= (p.Arg80=) | |
| 6 | g.36684300C>G | CA363834243 | CDKN1A | c.199C>G (p.Arg67Gly) n.393C>G n.418C>G c.301C>G (p.Arg101Gly) c.238C>G (p.Arg80Gly) | dbSNP gnomAD v4 |
| 6 | g.36684300C>T | CA3780354 | CDKN1A | c.199C>T (p.Arg67Cys) n.393C>T n.418C>T c.301C>T (p.Arg101Cys) c.238C>T (p.Arg80Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36684301G>A | CA3780355 | CDKN1A | c.200G>A (p.Arg67His) n.394G>A n.419G>A c.302G>A (p.Arg101His) c.239G>A (p.Arg80His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684301G>C | CA363834244 | CDKN1A | c.200G>C (p.Arg67Pro) n.394G>C n.419G>C c.302G>C (p.Arg101Pro) c.239G>C (p.Arg80Pro) | dbSNP gnomAD v4 |
| 6 | g.36684301G= | CA1621456966 | CDKN1A | c.200G= (p.Arg67=) n.394G= n.419G= c.302G= (p.Arg101=) c.239G= (p.Arg80=) | |
| 6 | g.36684301G>T | CA3780356 | CDKN1A | c.200G>T (p.Arg67Leu) n.394G>T n.419G>T c.302G>T (p.Arg101Leu) c.239G>T (p.Arg80Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684302T>A | CA450129349 | CDKN1A | c.201T>A (p.Arg67=) n.395T>A n.420T>A c.303T>A (p.Arg101=) c.240T>A (p.Arg80=) | dbSNP |
| 6 | g.36684302T>C | CA450129348 | CDKN1A | c.201T>C (p.Arg67=) n.395T>C n.420T>C c.303T>C (p.Arg101=) c.240T>C (p.Arg80=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684302T>G | CA450129347 | CDKN1A | c.201T>G (p.Arg67=) n.395T>G n.420T>G c.303T>G (p.Arg101=) c.240T>G (p.Arg80=) | dbSNP |
| 6 | g.36684302T= | CA1621456967 | CDKN1A | c.201T= (p.Arg67=) n.395T= n.420T= c.303T= (p.Arg101=) c.240T= (p.Arg80=) | |
| 6 | g.36684303G>A | CA363834247 | CDKN1A | c.202G>A (p.Val68Met) n.396G>A n.421G>A c.304G>A (p.Val102Met) c.241G>A (p.Val81Met) | dbSNP |
| 6 | g.36684303G>C | CA363834245 | CDKN1A | c.202G>C (p.Val68Leu) n.396G>C n.421G>C c.304G>C (p.Val102Leu) c.241G>C (p.Val81Leu) | dbSNP |
| 6 | g.36684303G>T | CA363834246 | CDKN1A | c.202G>T (p.Val68Leu) n.396G>T n.421G>T c.304G>T (p.Val102Leu) c.241G>T (p.Val81Leu) |