Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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) | |
6 | g.36684304T>A | CA363834248 | CDKN1A | c.203T>A (p.Val68Glu) n.397T>A n.422T>A c.305T>A (p.Val102Glu) c.242T>A (p.Val81Glu) | dbSNP |
6 | g.36684304T>C | CA363834249 | CDKN1A | c.203T>C (p.Val68Ala) n.397T>C n.422T>C c.305T>C (p.Val102Ala) c.242T>C (p.Val81Ala) | dbSNP |
6 | g.36684304T>G | CA363834250 | CDKN1A | c.203T>G (p.Val68Gly) n.397T>G n.422T>G c.305T>G (p.Val102Gly) c.242T>G (p.Val81Gly) | dbSNP |
6 | g.36684305G>A | CA450129351 | CDKN1A | c.204G>A (p.Val68=) n.398G>A n.423G>A c.306G>A (p.Val102=) c.243G>A (p.Val81=) | dbSNP |
6 | g.36684305G>C | CA450129352 | CDKN1A | c.204G>C (p.Val68=) n.398G>C n.423G>C c.306G>C (p.Val102=) c.243G>C (p.Val81=) | dbSNP |
6 | g.36684305G>T | CA450129353 | CDKN1A | c.204G>T (p.Val68=) n.398G>T n.423G>T c.306G>T (p.Val102=) c.243G>T (p.Val81=) | |
6 | g.36684306C>A | CA450129354 | CDKN1A | c.205C>A (p.Arg69=) n.399C>A n.424C>A c.307C>A (p.Arg103=) c.244C>A (p.Arg82=) | |
6 | g.36684306C= | CA1621456968 | CDKN1A | c.205C= (p.Arg69=) n.399C= n.424C= c.307C= (p.Arg103=) c.244C= (p.Arg82=) | |
6 | g.36684306C>G | CA363834251 | CDKN1A | c.205C>G (p.Arg69Gly) n.399C>G n.424C>G c.307C>G (p.Arg103Gly) c.244C>G (p.Arg82Gly) | |
6 | g.36684306C>T | CA3780357 | CDKN1A | c.205C>T (p.Arg69Trp) n.399C>T n.424C>T c.307C>T (p.Arg103Trp) c.244C>T (p.Arg82Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.36684307G>A | CA3780358 | CDKN1A | c.206G>A (p.Arg69Gln) n.400G>A n.425G>A c.308G>A (p.Arg103Gln) c.245G>A (p.Arg82Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684307G>C | CA363834253 | CDKN1A | c.206G>C (p.Arg69Pro) n.400G>C n.425G>C c.308G>C (p.Arg103Pro) c.245G>C (p.Arg82Pro) | dbSNP gnomAD v4 |
6 | g.36684307G= | CA1621456969 | CDKN1A | c.206G= (p.Arg69=) n.400G= n.425G= c.308G= (p.Arg103=) c.245G= (p.Arg82=) | |
6 | g.36684307G>T | CA363834252 | CDKN1A | c.206G>T (p.Arg69Leu) n.400G>T n.425G>T c.308G>T (p.Arg103Leu) c.245G>T (p.Arg82Leu) | dbSNP |
6 | g.36684310dup | CA450129355 | CDKN1A | c.209dup (p.Leu71ProfsTer18) n.403dup n.428dup c.311dup (p.Leu105ProfsTer18) c.248dup (p.Leu84ProfsTer18) | COSMIC COSMIC |
6 | g.36684308G>A | CA450129358 | CDKN1A | c.207G>A (p.Arg69=) n.401G>A n.426G>A c.309G>A (p.Arg103=) c.246G>A (p.Arg82=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684308G>C | CA450129356 | CDKN1A | c.207G>C (p.Arg69=) n.401G>C n.426G>C c.309G>C (p.Arg103=) c.246G>C (p.Arg82=) | dbSNP |
6 | g.36684308G= | CA1621456970 | CDKN1A | c.207G= (p.Arg69=) n.401G= n.426G= c.309G= (p.Arg103=) c.246G= (p.Arg82=) | |
6 | g.36684308G>T | CA450129357 | CDKN1A | c.207G>T (p.Arg69=) n.401G>T n.426G>T c.309G>T (p.Arg103=) c.246G>T (p.Arg82=) | dbSNP |
6 | g.36684309G>A | CA3780359 | CDKN1A | c.208G>A (p.Gly70Ser) n.402G>A n.427G>A c.310G>A (p.Gly104Ser) c.247G>A (p.Gly83Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684309G>C | CA363834254 | CDKN1A | c.208G>C (p.Gly70Arg) n.402G>C n.427G>C c.310G>C (p.Gly104Arg) c.247G>C (p.Gly83Arg) | |
6 | g.36684309G= | CA1621456971 | CDKN1A | c.208G= (p.Gly70=) n.402G= n.427G= c.310G= (p.Gly104=) c.247G= (p.Gly83=) | |
6 | g.36684309G>T | CA363834255 | CDKN1A | c.208G>T (p.Gly70Cys) n.402G>T n.427G>T c.310G>T (p.Gly104Cys) c.247G>T (p.Gly83Cys) | |
6 | g.36684310G>A | CA3780360 | CDKN1A | c.209G>A (p.Gly70Asp) n.403G>A n.428G>A c.311G>A (p.Gly104Asp) c.248G>A (p.Gly83Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684310G>C | CA363834256 | CDKN1A | c.209G>C (p.Gly70Ala) n.403G>C n.428G>C c.311G>C (p.Gly104Ala) c.248G>C (p.Gly83Ala) | dbSNP |
6 | g.36684310G= | CA1621456972 | CDKN1A | c.209G= (p.Gly70=) n.403G= n.428G= c.311G= (p.Gly104=) c.248G= (p.Gly83=) | |
6 | g.36684310G>T | CA363834257 | CDKN1A | c.209G>T (p.Gly70Val) n.403G>T n.428G>T c.311G>T (p.Gly104Val) c.248G>T (p.Gly83Val) | dbSNP gnomAD v4 |
6 | g.36684311C>A | CA450129360 | CDKN1A | c.210C>A (p.Gly70=) n.404C>A n.429C>A c.312C>A (p.Gly104=) c.249C>A (p.Gly83=) | dbSNP gnomAD v4 |
6 | g.36684311C= | CA1621456973 | CDKN1A | c.210C= (p.Gly70=) n.404C= n.429C= c.312C= (p.Gly104=) c.249C= (p.Gly83=) | |
6 | g.36684311C>G | CA450129361 | CDKN1A | c.210C>G (p.Gly70=) n.404C>G n.429C>G c.312C>G (p.Gly104=) c.249C>G (p.Gly83=) | dbSNP |
6 | g.36684311C>T | CA450129362 | CDKN1A | c.210C>T (p.Gly70=) n.404C>T n.429C>T c.312C>T (p.Gly104=) c.249C>T (p.Gly83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.36684312C>A | CA363834258 | CDKN1A | c.211C>A (p.Leu71Ile) n.405C>A n.430C>A c.313C>A (p.Leu105Ile) c.250C>A (p.Leu84Ile) | COSMIC COSMIC |
6 | g.36684312C= | CA1621456974 | CDKN1A | c.211C= (p.Leu71=) n.405C= n.430C= c.313C= (p.Leu105=) c.250C= (p.Leu84=) | |
6 | g.36684312C>G | CA3780361 | CDKN1A | c.211C>G (p.Leu71Val) n.405C>G n.430C>G c.313C>G (p.Leu105Val) c.250C>G (p.Leu84Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684312C>T | CA363834259 | CDKN1A | c.211C>T (p.Leu71Phe) n.405C>T n.430C>T c.313C>T (p.Leu105Phe) c.250C>T (p.Leu84Phe) | |
6 | g.36684313T>A | CA363834260 | CDKN1A | c.212T>A (p.Leu71His) n.406T>A n.431T>A c.314T>A (p.Leu105His) c.251T>A (p.Leu84His) | dbSNP |
6 | g.36684313T>C | CA363834261 | CDKN1A | c.212T>C (p.Leu71Pro) n.406T>C n.431T>C c.314T>C (p.Leu105Pro) c.251T>C (p.Leu84Pro) | gnomAD v4 |
6 | g.36684313T>G | CA363834262 | CDKN1A | c.212T>G (p.Leu71Arg) n.406T>G n.431T>G c.314T>G (p.Leu105Arg) c.251T>G (p.Leu84Arg) | |
6 | g.36684314T>A | CA450129364 | CDKN1A | c.213T>A (p.Leu71=) n.407T>A n.432T>A c.315T>A (p.Leu105=) c.252T>A (p.Leu84=) | |
6 | g.36684314T>C | CA450129365 | CDKN1A | c.213T>C (p.Leu71=) n.407T>C n.432T>C c.315T>C (p.Leu105=) c.252T>C (p.Leu84=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684314T>G | CA450129366 | CDKN1A | c.213T>G (p.Leu71=) n.407T>G n.432T>G c.315T>G (p.Leu105=) c.252T>G (p.Leu84=) | |
6 | g.36684314T= | CA1621456975 | CDKN1A | c.213T= (p.Leu71=) n.407T= n.432T= c.315T= (p.Leu105=) c.252T= (p.Leu84=) | |
6 | g.36684315G>A | CA3780362 | CDKN1A | c.214G>A (p.Gly72Ser) n.408G>A n.433G>A c.316G>A (p.Gly106Ser) c.253G>A (p.Gly85Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684315G>C | CA363834264 | CDKN1A | c.214G>C (p.Gly72Arg) n.408G>C n.433G>C c.316G>C (p.Gly106Arg) c.253G>C (p.Gly85Arg) | dbSNP |
6 | g.36684315G= | CA1621456976 | CDKN1A | c.214G= (p.Gly72=) n.408G= n.433G= c.316G= (p.Gly106=) c.253G= (p.Gly85=) | |
6 | g.36684315G>T | CA363834263 | CDKN1A | c.214G>T (p.Gly72Cys) n.408G>T n.433G>T c.316G>T (p.Gly106Cys) c.253G>T (p.Gly85Cys) | dbSNP |
6 | g.36684316del | CA2711437300 | CDKN1A | c.215del (p.Gly72AlafsTer?) n.409del n.434del c.317del (p.Gly106AlafsTer?) c.254del (p.Gly85AlafsTer?) | dbSNP |
6 | g.36684316G>A | CA363834265 | CDKN1A | c.215G>A (p.Gly72Asp) n.409G>A n.434G>A c.317G>A (p.Gly106Asp) c.254G>A (p.Gly85Asp) | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.36684316G>C | CA363834266 | CDKN1A | c.215G>C (p.Gly72Ala) n.409G>C n.434G>C c.317G>C (p.Gly106Ala) c.254G>C (p.Gly85Ala) | dbSNP |
6 | g.36684316G>T | CA363834267 | CDKN1A | c.215G>T (p.Gly72Val) n.409G>T n.434G>T c.317G>T (p.Gly106Val) c.254G>T (p.Gly85Val) | dbSNP |
6 | g.36684317C>A | CA450129370 | CDKN1A | c.216C>A (p.Gly72=) n.410C>A n.435C>A c.318C>A (p.Gly106=) c.255C>A (p.Gly85=) | dbSNP |
6 | g.36684317C>G | CA450129371 | CDKN1A | c.216C>G (p.Gly72=) n.410C>G n.435C>G c.318C>G (p.Gly106=) c.255C>G (p.Gly85=) | dbSNP |
6 | g.36684317C>T | CA450129369 | CDKN1A | c.216C>T (p.Gly72=) n.410C>T n.435C>T c.318C>T (p.Gly106=) c.255C>T (p.Gly85=) | dbSNP |
6 | g.36684319_36684348del | CA2678466970 | CDKN1A | c.218_247del (p.Leu73_Pro82del) n.412_441del n.437_466del c.320_349del (p.Leu107_Pro116del) c.257_286del (p.Leu86_Pro95del) | gnomAD v4 |
6 | g.36684318C>A | CA363834268 | CDKN1A | c.217C>A (p.Leu73Met) n.411C>A n.436C>A c.319C>A (p.Leu107Met) c.256C>A (p.Leu86Met) | dbSNP |
6 | g.36684318C>G | CA363834269 | CDKN1A | c.217C>G (p.Leu73Val) n.411C>G n.436C>G c.319C>G (p.Leu107Val) c.256C>G (p.Leu86Val) | dbSNP |
6 | g.36684318C>T | CA450129374 | CDKN1A | c.217C>T (p.Leu73=) n.411C>T n.436C>T c.319C>T (p.Leu107=) c.256C>T (p.Leu86=) | dbSNP |
6 | g.36684319T>A | CA363834270 | CDKN1A | c.218T>A (p.Leu73Gln) n.412T>A n.437T>A c.320T>A (p.Leu107Gln) c.257T>A (p.Leu86Gln) | dbSNP |
6 | g.36684319T>C | CA363834271 | CDKN1A | c.218T>C (p.Leu73Pro) n.412T>C n.437T>C c.320T>C (p.Leu107Pro) c.257T>C (p.Leu86Pro) | dbSNP |
6 | g.36684319T>G | CA363834272 | CDKN1A | c.218T>G (p.Leu73Arg) n.412T>G n.437T>G c.320T>G (p.Leu107Arg) c.257T>G (p.Leu86Arg) | |
6 | g.36684320G>A | CA3780363 | CDKN1A | c.219G>A (p.Leu73=) n.413G>A n.438G>A c.321G>A (p.Leu107=) c.258G>A (p.Leu86=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684320G>C | CA450129376 | CDKN1A | c.219G>C (p.Leu73=) n.413G>C n.438G>C c.321G>C (p.Leu107=) c.258G>C (p.Leu86=) | gnomAD v4 |
6 | g.36684320G= | CA1621456977 | CDKN1A | c.219G= (p.Leu73=) n.413G= n.438G= c.321G= (p.Leu107=) c.258G= (p.Leu86=) | |
6 | g.36684320G>T | CA450129377 | CDKN1A | c.219G>T (p.Leu73=) n.413G>T n.438G>T c.321G>T (p.Leu107=) c.258G>T (p.Leu86=) | |
6 | g.36684321C>A | CA363834273 | CDKN1A | c.220C>A (p.Pro74Thr) n.414C>A n.439C>A c.322C>A (p.Pro108Thr) c.259C>A (p.Pro87Thr) | dbSNP |
6 | g.36684321C>G | CA363834274 | CDKN1A | c.220C>G (p.Pro74Ala) n.414C>G n.439C>G c.322C>G (p.Pro108Ala) c.259C>G (p.Pro87Ala) | dbSNP |
6 | g.36684321C>T | CA363834275 | CDKN1A | c.220C>T (p.Pro74Ser) n.414C>T n.439C>T c.322C>T (p.Pro108Ser) c.259C>T (p.Pro87Ser) | dbSNP |
6 | g.36684322C>A | CA363834278 | CDKN1A | c.221C>A (p.Pro74His) n.415C>A n.440C>A c.323C>A (p.Pro108His) c.260C>A (p.Pro87His) | dbSNP |
6 | g.36684322C>G | CA363834277 | CDKN1A | c.221C>G (p.Pro74Arg) n.415C>G n.440C>G c.323C>G (p.Pro108Arg) c.260C>G (p.Pro87Arg) | dbSNP |
6 | g.36684322C>T | CA363834276 | CDKN1A | c.221C>T (p.Pro74Leu) n.415C>T n.440C>T c.323C>T (p.Pro108Leu) c.260C>T (p.Pro87Leu) | dbSNP |
6 | g.36684323C>A | CA450129379 | CDKN1A | c.222C>A (p.Pro74=) n.416C>A n.441C>A c.324C>A (p.Pro108=) c.261C>A (p.Pro87=) | dbSNP |
6 | g.36684323C>G | CA450129380 | CDKN1A | c.222C>G (p.Pro74=) n.416C>G n.441C>G c.324C>G (p.Pro108=) c.261C>G (p.Pro87=) | dbSNP |
6 | g.36684323C>T | CA450129381 | CDKN1A | c.222C>T (p.Pro74=) n.416C>T n.441C>T c.324C>T (p.Pro108=) c.261C>T (p.Pro87=) | dbSNP |
6 | g.36684324A= | CA1621456978 | CDKN1A | c.223A= (p.Lys75=) n.417A= n.442A= c.325A= (p.Lys109=) c.262A= (p.Lys88=) | |
6 | g.36684324A>C | CA137423225 | CDKN1A | c.223A>C (p.Lys75Gln) n.417A>C n.442A>C c.325A>C (p.Lys109Gln) c.262A>C (p.Lys88Gln) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684324A>G | CA363834280 | CDKN1A | c.223A>G (p.Lys75Glu) n.417A>G n.442A>G c.325A>G (p.Lys109Glu) c.262A>G (p.Lys88Glu) | |
6 | g.36684324A>T | CA363834279 | CDKN1A | c.223A>T (p.Lys75Ter) n.417A>T n.442A>T c.325A>T (p.Lys109Ter) c.262A>T (p.Lys88Ter) | |
6 | g.36684325A>C | CA363834281 | CDKN1A | c.224A>C (p.Lys75Thr) n.418A>C n.443A>C c.326A>C (p.Lys109Thr) c.263A>C (p.Lys88Thr) | |
6 | g.36684325A>G | CA363834282 | CDKN1A | c.224A>G (p.Lys75Arg) n.418A>G n.443A>G c.326A>G (p.Lys109Arg) c.263A>G (p.Lys88Arg) | dbSNP |
6 | g.36684325A>T | CA363834283 | CDKN1A | c.224A>T (p.Lys75Met) n.418A>T n.443A>T c.326A>T (p.Lys109Met) c.263A>T (p.Lys88Met) | dbSNP |
6 | g.36684326G>A | CA450129385 | CDKN1A | c.225G>A (p.Lys75=) n.419G>A n.444G>A c.327G>A (p.Lys109=) c.264G>A (p.Lys88=) | |
6 | g.36684326G>C | CA363834284 | CDKN1A | c.225G>C (p.Lys75Asn) n.419G>C n.444G>C c.327G>C (p.Lys109Asn) c.264G>C (p.Lys88Asn) | |
6 | g.36684326G>T | CA363834285 | CDKN1A | c.225G>T (p.Lys75Asn) n.419G>T n.444G>T c.327G>T (p.Lys109Asn) c.264G>T (p.Lys88Asn) | gnomAD v4 |
6 | g.36684327C>A | CA363834286 | CDKN1A | c.226C>A (p.Leu76Ile) n.420C>A n.445C>A c.328C>A (p.Leu110Ile) c.265C>A (p.Leu89Ile) | dbSNP gnomAD v4 |
6 | g.36684327C>G | CA363834287 | CDKN1A | c.226C>G (p.Leu76Val) n.420C>G n.445C>G c.328C>G (p.Leu110Val) c.265C>G (p.Leu89Val) | dbSNP |
6 | g.36684327C>T | CA363834288 | CDKN1A | c.226C>T (p.Leu76Phe) n.420C>T n.445C>T c.328C>T (p.Leu110Phe) c.265C>T (p.Leu89Phe) | dbSNP gnomAD v4 |
6 | g.36684328T>A | CA363834289 | CDKN1A | c.227T>A (p.Leu76His) n.421T>A n.446T>A c.329T>A (p.Leu110His) c.266T>A (p.Leu89His) | |
6 | g.36684328T>C | CA363834290 | CDKN1A | c.227T>C (p.Leu76Pro) n.421T>C n.446T>C c.329T>C (p.Leu110Pro) c.266T>C (p.Leu89Pro) | |
6 | g.36684328T>G | CA363834291 | CDKN1A | c.227T>G (p.Leu76Arg) n.421T>G n.446T>G c.329T>G (p.Leu110Arg) c.266T>G (p.Leu89Arg) | |
6 | g.36684329C>A | CA450129387 | CDKN1A | c.228C>A (p.Leu76=) n.422C>A n.447C>A c.330C>A (p.Leu110=) c.267C>A (p.Leu89=) | dbSNP |
6 | g.36684329C= | CA1621456979 | CDKN1A | c.228C= (p.Leu76=) n.422C= n.447C= c.330C= (p.Leu110=) c.267C= (p.Leu89=) | |
6 | g.36684329C>G | CA3780364 | CDKN1A | c.228C>G (p.Leu76=) n.422C>G n.447C>G c.330C>G (p.Leu110=) c.267C>G (p.Leu89=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684329C>T | CA450129388 | CDKN1A | c.228C>T (p.Leu76=) n.422C>T n.447C>T c.330C>T (p.Leu110=) c.267C>T (p.Leu89=) | dbSNP |
6 | g.36684330T>A | CA363834293 | CDKN1A | c.229T>A (p.Tyr77Asn) n.423T>A n.448T>A c.331T>A (p.Tyr111Asn) c.268T>A (p.Tyr90Asn) | dbSNP |
6 | g.36684330T>C | CA3780365 | CDKN1A | c.229T>C (p.Tyr77His) n.423T>C n.448T>C c.331T>C (p.Tyr111His) c.268T>C (p.Tyr90His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684330T>G | CA363834292 | CDKN1A | c.229T>G (p.Tyr77Asp) n.423T>G n.448T>G c.331T>G (p.Tyr111Asp) c.268T>G (p.Tyr90Asp) | |
6 | g.36684330T= | CA1621456980 | CDKN1A | c.229T= (p.Tyr77=) n.423T= n.448T= c.331T= (p.Tyr111=) c.268T= (p.Tyr90=) | |
6 | g.36684331del | CA2711437869 | CDKN1A | c.230del (p.Tyr77SerfsTer?) n.424del n.449del c.332del (p.Tyr111SerfsTer?) c.269del (p.Tyr90SerfsTer?) | dbSNP |
6 | g.36684331A>C | CA363834294 | CDKN1A | c.230A>C (p.Tyr77Ser) n.424A>C n.449A>C c.332A>C (p.Tyr111Ser) c.269A>C (p.Tyr90Ser) | dbSNP |
6 | g.36684331A>G | CA363834295 | CDKN1A | c.230A>G (p.Tyr77Cys) n.424A>G n.449A>G c.332A>G (p.Tyr111Cys) c.269A>G (p.Tyr90Cys) | dbSNP gnomAD v4 |
6 | g.36684331A>T | CA363834296 | CDKN1A | c.230A>T (p.Tyr77Phe) n.424A>T n.449A>T c.332A>T (p.Tyr111Phe) c.269A>T (p.Tyr90Phe) | dbSNP |
6 | g.36684332C>A | CA363834297 | CDKN1A | c.231C>A (p.Tyr77Ter) n.425C>A n.450C>A c.333C>A (p.Tyr111Ter) c.270C>A (p.Tyr90Ter) | dbSNP |
6 | g.36684332C>G | CA363834298 | CDKN1A | c.231C>G (p.Tyr77Ter) n.425C>G n.450C>G c.333C>G (p.Tyr111Ter) c.270C>G (p.Tyr90Ter) | dbSNP |
6 | g.36684332C>T | CA450129389 | CDKN1A | c.231C>T (p.Tyr77=) n.425C>T n.450C>T c.333C>T (p.Tyr111=) c.270C>T (p.Tyr90=) | dbSNP |
6 | g.36684333C>A | CA363834299 | CDKN1A | c.232C>A (p.Leu78Ile) n.426C>A n.451C>A c.334C>A (p.Leu112Ile) c.271C>A (p.Leu91Ile) | dbSNP |
6 | g.36684333C>G | CA363834300 | CDKN1A | c.232C>G (p.Leu78Val) n.426C>G n.451C>G c.334C>G (p.Leu112Val) c.271C>G (p.Leu91Val) | dbSNP |
6 | g.36684333C>T | CA363834301 | CDKN1A | c.232C>T (p.Leu78Phe) n.426C>T n.451C>T c.334C>T (p.Leu112Phe) c.271C>T (p.Leu91Phe) | dbSNP |
6 | g.36684334T>A | CA363834302 | CDKN1A | c.233T>A (p.Leu78His) n.427T>A n.452T>A c.335T>A (p.Leu112His) c.272T>A (p.Leu91His) | dbSNP |
6 | g.36684334T>C | CA363834303 | CDKN1A | c.233T>C (p.Leu78Pro) n.427T>C n.452T>C c.335T>C (p.Leu112Pro) c.272T>C (p.Leu91Pro) | dbSNP |
6 | g.36684334T>G | CA363834304 | CDKN1A | c.233T>G (p.Leu78Arg) n.427T>G n.452T>G c.335T>G (p.Leu112Arg) c.272T>G (p.Leu91Arg) | |
6 | g.36684335T>A | CA450129390 | CDKN1A | c.234T>A (p.Leu78=) n.428T>A n.453T>A c.336T>A (p.Leu112=) c.273T>A (p.Leu91=) | |
6 | g.36684335T>C | CA450129391 | CDKN1A | c.234T>C (p.Leu78=) n.428T>C n.453T>C c.336T>C (p.Leu112=) c.273T>C (p.Leu91=) | |
6 | g.36684335T>G | CA450129392 | CDKN1A | c.234T>G (p.Leu78=) n.428T>G n.453T>G c.336T>G (p.Leu112=) c.273T>G (p.Leu91=) | |
6 | g.36684336C>A | CA363834307 | CDKN1A | c.235C>A (p.Pro79Thr) n.429C>A n.454C>A c.337C>A (p.Pro113Thr) c.274C>A (p.Pro92Thr) | dbSNP |
6 | g.36684336C= | CA1621456981 | CDKN1A | c.235C= (p.Pro79=) n.429C= n.454C= c.337C= (p.Pro113=) c.274C= (p.Pro92=) | |
6 | g.36684336C>G | CA363834306 | CDKN1A | c.235C>G (p.Pro79Ala) n.429C>G n.454C>G c.337C>G (p.Pro113Ala) c.274C>G (p.Pro92Ala) | dbSNP |
6 | g.36684336C>T | CA363834305 | CDKN1A | c.235C>T (p.Pro79Ser) n.429C>T n.454C>T c.337C>T (p.Pro113Ser) c.274C>T (p.Pro92Ser) | dbSNP gnomAD v2 COSMIC COSMIC |
6 | g.36684337C>A | CA363834308 | CDKN1A | c.236C>A (p.Pro79His) n.430C>A n.455C>A c.338C>A (p.Pro113His) c.275C>A (p.Pro92His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684337C= | CA1621456982 | CDKN1A | c.236C= (p.Pro79=) n.430C= n.455C= c.338C= (p.Pro113=) c.275C= (p.Pro92=) | |
6 | g.36684337C>G | CA363834309 | CDKN1A | c.236C>G (p.Pro79Arg) n.430C>G n.455C>G c.338C>G (p.Pro113Arg) c.275C>G (p.Pro92Arg) | dbSNP |
6 | g.36684337C>T | CA363834310 | CDKN1A | c.236C>T (p.Pro79Leu) n.430C>T n.455C>T c.338C>T (p.Pro113Leu) c.275C>T (p.Pro92Leu) | dbSNP gnomAD v4 |
6 | g.36684338C>A | CA450129393 | CDKN1A | c.237C>A (p.Pro79=) n.431C>A n.456C>A c.339C>A (p.Pro113=) c.276C>A (p.Pro92=) | dbSNP |
6 | g.36684338C>G | CA450129394 | CDKN1A | c.237C>G (p.Pro79=) n.431C>G n.456C>G c.339C>G (p.Pro113=) c.276C>G (p.Pro92=) | dbSNP |
6 | g.36684338C>T | CA450129395 | CDKN1A | c.237C>T (p.Pro79=) n.431C>T n.456C>T c.339C>T (p.Pro113=) c.276C>T (p.Pro92=) | dbSNP gnomAD v4 |
6 | g.36684339_36684340insACCCCCCAAACACACCCAACACA | CA2770659424 | CDKN1A | c.238_239insACCCCCCAAACACACCCAACACA (p.Thr80AsnfsTer?) n.432_433insACCCCCCAAACACACCCAACACA n.457_458insACCCCCCAAACACACCCAACACA c.340_341insACCCCCCAAACACACCCAACACA (p.Thr114AsnfsTer?) c.277_278insACCCCCCAAACACACCCAACACA (p.Thr93AsnfsTer?) | |
6 | g.36684339A>C | CA363834311 | CDKN1A | c.238A>C (p.Thr80Pro) n.432A>C n.457A>C c.340A>C (p.Thr114Pro) c.277A>C (p.Thr93Pro) | dbSNP |
6 | g.36684339A>G | CA363834312 | CDKN1A | c.238A>G (p.Thr80Ala) n.432A>G n.457A>G c.340A>G (p.Thr114Ala) c.277A>G (p.Thr93Ala) | dbSNP |
6 | g.36684339A>T | CA363834313 | CDKN1A | c.238A>T (p.Thr80Ser) n.432A>T n.457A>T c.340A>T (p.Thr114Ser) c.277A>T (p.Thr93Ser) | dbSNP |
6 | g.36684340C>A | CA363834314 | CDKN1A | c.239C>A (p.Thr80Lys) n.433C>A n.458C>A c.341C>A (p.Thr114Lys) c.278C>A (p.Thr93Lys) | dbSNP |
6 | g.36684340C= | CA1621456983 | CDKN1A | c.239C= (p.Thr80=) n.433C= n.458C= c.341C= (p.Thr114=) c.278C= (p.Thr93=) | |
6 | g.36684340C>G | CA363834315 | CDKN1A | c.239C>G (p.Thr80Arg) n.433C>G n.458C>G c.341C>G (p.Thr114Arg) c.278C>G (p.Thr93Arg) | dbSNP |
6 | g.36684340C>T | CA3780366 | CDKN1A | c.239C>T (p.Thr80Met) n.433C>T n.458C>T c.341C>T (p.Thr114Met) c.278C>T (p.Thr93Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |