Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
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) | ClinVar 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 |