UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.131840590G>A | CA6881719 | MMP17 | c.440G>A (p.Arg147Gln) c.*127G>A (n.*127G>A) c.-38G>A (n.-38G>A) c.188G>A (p.Arg63Gln) c.128G>A (p.Arg43Gln) n.528G>A n.521G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840590G>C | CA387286680 | MMP17 | c.440G>C (p.Arg147Pro) c.*127G>C (n.*127G>C) c.-38G>C (n.-38G>C) c.188G>C (p.Arg63Pro) c.128G>C (p.Arg43Pro) n.528G>C n.521G>C | |
| 12 | g.131840590G= | CA2072565065 | MMP17 | c.440G= (p.Arg147=) c.*127G= (n.*127G=) c.-38G= (n.-38G=) c.188G= (p.Arg63=) c.128G= (p.Arg43=) n.528G= n.521G= | |
| 12 | g.131840590G>T | CA387286683 | MMP17 | c.440G>T (p.Arg147Leu) c.*127G>T (n.*127G>T) c.-38G>T (n.-38G>T) c.188G>T (p.Arg63Leu) c.128G>T (p.Arg43Leu) n.528G>T n.521G>T | gnomAD v4 |
| 12 | g.131840591G>A | CA482682711 | MMP17 | c.441G>A (p.Arg147=) c.*128G>A (n.*128G>A) c.-37G>A (n.-37G>A) c.189G>A (p.Arg63=) c.129G>A (p.Arg43=) n.529G>A n.522G>A | |
| 12 | g.131840591G>C | CA482682712 | MMP17 | c.441G>C (p.Arg147=) c.*128G>C (n.*128G>C) c.-37G>C (n.-37G>C) c.189G>C (p.Arg63=) c.129G>C (p.Arg43=) n.529G>C n.522G>C | |
| 12 | g.131840591G>T | CA482682714 | MMP17 | c.441G>T (p.Arg147=) c.*128G>T (n.*128G>T) c.-37G>T (n.-37G>T) c.189G>T (p.Arg63=) c.129G>T (p.Arg43=) n.529G>T n.522G>T | gnomAD v4 |
| 12 | g.131840592G>A | CA387286686 | MMP17 | c.442G>A (p.Asp148Asn) c.*129G>A (n.*129G>A) c.-36G>A (n.-36G>A) c.190G>A (p.Asp64Asn) c.130G>A (p.Asp44Asn) n.530G>A n.523G>A | |
| 12 | g.131840592G>C | CA387286689 | MMP17 | c.442G>C (p.Asp148His) c.*129G>C (n.*129G>C) c.-36G>C (n.-36G>C) c.190G>C (p.Asp64His) c.130G>C (p.Asp44His) n.530G>C n.523G>C | |
| 12 | g.131840592G= | CA2072565070 | MMP17 | c.442G= (p.Asp148=) c.*129G= (n.*129G=) c.-36G= (n.-36G=) c.190G= (p.Asp64=) c.130G= (p.Asp44=) n.530G= n.523G= | |
| 12 | g.131840592G>T | CA387286691 | MMP17 | c.442G>T (p.Asp148Tyr) c.*129G>T (n.*129G>T) c.-36G>T (n.-36G>T) c.190G>T (p.Asp64Tyr) c.130G>T (p.Asp44Tyr) n.530G>T n.523G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840593A>C | CA387286699 | MMP17 | c.443A>C (p.Asp148Ala) c.*130A>C (n.*130A>C) c.-35A>C (n.-35A>C) c.191A>C (p.Asp64Ala) c.131A>C (p.Asp44Ala) n.531A>C n.524A>C | |
| 12 | g.131840593A>G | CA387286696 | MMP17 | c.443A>G (p.Asp148Gly) c.*130A>G (n.*130A>G) c.-35A>G (n.-35A>G) c.191A>G (p.Asp64Gly) c.131A>G (p.Asp44Gly) n.531A>G n.524A>G | |
| 12 | g.131840593A>T | CA387286694 | MMP17 | c.443A>T (p.Asp148Val) c.*130A>T (n.*130A>T) c.-35A>T (n.-35A>T) c.191A>T (p.Asp64Val) c.131A>T (p.Asp44Val) n.531A>T n.524A>T | |
| 12 | g.131840594C>A | CA387286702 | MMP17 | c.444C>A (p.Asp148Glu) c.*131C>A (n.*131C>A) c.-34C>A (n.-34C>A) c.192C>A (p.Asp64Glu) c.132C>A (p.Asp44Glu) n.532C>A n.525C>A | |
| 12 | g.131840594C= | CA2072565072 | MMP17 | c.444C= (p.Asp148=) c.*131C= (n.*131C=) c.-34C= (n.-34C=) c.192C= (p.Asp64=) c.132C= (p.Asp44=) n.532C= n.525C= | |
| 12 | g.131840594C>G | CA6881720 | MMP17 | c.444C>G (p.Asp148Glu) c.*131C>G (n.*131C>G) c.-34C>G (n.-34C>G) c.192C>G (p.Asp64Glu) c.132C>G (p.Asp44Glu) n.532C>G n.525C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840594C>T | CA482682727 | MMP17 | c.444C>T (p.Asp148=) c.*131C>T (n.*131C>T) c.-34C>T (n.-34C>T) c.192C>T (p.Asp64=) c.132C>T (p.Asp44=) n.532C>T n.525C>T | dbSNP gnomAD v4 |
| 12 | g.131840595T>A | CA387286706 | MMP17 | c.445T>A (p.Ser149Thr) c.*132T>A (n.*132T>A) c.-33T>A (n.-33T>A) c.193T>A (p.Ser65Thr) c.133T>A (p.Ser45Thr) n.533T>A n.526T>A | gnomAD v4 |
| 12 | g.131840595T>C | CA387286709 | MMP17 | c.445T>C (p.Ser149Pro) c.*132T>C (n.*132T>C) c.-33T>C (n.-33T>C) c.193T>C (p.Ser65Pro) c.133T>C (p.Ser45Pro) n.533T>C n.526T>C | |
| 12 | g.131840595T>G | CA387286711 | MMP17 | c.445T>G (p.Ser149Ala) c.*132T>G (n.*132T>G) c.-33T>G (n.-33T>G) c.193T>G (p.Ser65Ala) c.133T>G (p.Ser45Ala) n.533T>G n.526T>G | |
| 12 | g.131840596C>A | CA387286714 | MMP17 | c.446C>A (p.Ser149Ter) c.*133C>A (n.*133C>A) c.-32C>A (n.-32C>A) c.194C>A (p.Ser65Ter) c.134C>A (p.Ser45Ter) n.534C>A n.527C>A | gnomAD v4 |
| 12 | g.131840596C>G | CA387286717 | MMP17 | c.446C>G (p.Ser149Ter) c.*133C>G (n.*133C>G) c.-32C>G (n.-32C>G) c.194C>G (p.Ser65Ter) c.134C>G (p.Ser45Ter) n.534C>G n.527C>G | |
| 12 | g.131840596C>T | CA387286720 | MMP17 | c.446C>T (p.Ser149Leu) c.*133C>T (n.*133C>T) c.-32C>T (n.-32C>T) c.194C>T (p.Ser65Leu) c.134C>T (p.Ser45Leu) n.534C>T n.527C>T | gnomAD v4 |
| 12 | g.131840597A>C | CA482682738 | MMP17 | c.447A>C (p.Ser149=) c.*134A>C (n.*134A>C) c.-31A>C (n.-31A>C) c.195A>C (p.Ser65=) c.135A>C (p.Ser45=) n.535A>C n.528A>C | |
| 12 | g.131840597A>G | CA482682740 | MMP17 | c.447A>G (p.Ser149=) c.*134A>G (n.*134A>G) c.-31A>G (n.-31A>G) c.195A>G (p.Ser65=) c.135A>G (p.Ser45=) n.535A>G n.528A>G | |
| 12 | g.131840597A>T | CA482682742 | MMP17 | c.447A>T (p.Ser149=) c.*134A>T (n.*134A>T) c.-31A>T (n.-31A>T) c.195A>T (p.Ser65=) c.135A>T (p.Ser45=) n.535A>T n.528A>T | gnomAD v4 |
| 12 | g.131840598C>A | CA387286724 | MMP17 | c.448C>A (p.Pro150Thr) c.*135C>A (n.*135C>A) c.-30C>A (n.-30C>A) c.196C>A (p.Pro66Thr) c.136C>A (p.Pro46Thr) n.536C>A n.529C>A | gnomAD v4 |
| 12 | g.131840598C>G | CA387286726 | MMP17 | c.448C>G (p.Pro150Ala) c.*135C>G (n.*135C>G) c.-30C>G (n.-30C>G) c.196C>G (p.Pro66Ala) c.136C>G (p.Pro46Ala) n.536C>G n.529C>G | |
| 12 | g.131840598C>T | CA387286729 | MMP17 | c.448C>T (p.Pro150Ser) c.*135C>T (n.*135C>T) c.-30C>T (n.-30C>T) c.196C>T (p.Pro66Ser) c.136C>T (p.Pro46Ser) n.536C>T n.529C>T | |
| 12 | g.131840599C>A | CA387286738 | MMP17 | c.449C>A (p.Pro150Gln) c.*136C>A (n.*136C>A) c.-29C>A (n.-29C>A) c.197C>A (p.Pro66Gln) c.137C>A (p.Pro46Gln) n.537C>A n.530C>A | gnomAD v4 |
| 12 | g.131840599C= | CA2072565073 | MMP17 | c.449C= (p.Pro150=) c.*136C= (n.*136C=) c.-29C= (n.-29C=) c.197C= (p.Pro66=) c.137C= (p.Pro46=) n.537C= n.530C= | |
| 12 | g.131840599C>G | CA387286735 | MMP17 | c.449C>G (p.Pro150Arg) c.*136C>G (n.*136C>G) c.-29C>G (n.-29C>G) c.197C>G (p.Pro66Arg) c.137C>G (p.Pro46Arg) n.537C>G n.530C>G | dbSNP |
| 12 | g.131840599C>T | CA387286732 | MMP17 | c.449C>T (p.Pro150Leu) c.*136C>T (n.*136C>T) c.-29C>T (n.-29C>T) c.197C>T (p.Pro66Leu) c.137C>T (p.Pro46Leu) n.537C>T n.530C>T | |
| 12 | g.131840600A>C | CA482682752 | MMP17 | c.450A>C (p.Pro150=) c.*137A>C (n.*137A>C) c.-28A>C (n.-28A>C) c.198A>C (p.Pro66=) c.138A>C (p.Pro46=) n.538A>C n.531A>C | |
| 12 | g.131840600A>G | CA482682754 | MMP17 | c.450A>G (p.Pro150=) c.*137A>G (n.*137A>G) c.-28A>G (n.-28A>G) c.198A>G (p.Pro66=) c.138A>G (p.Pro46=) n.538A>G n.531A>G | |
| 12 | g.131840600A>T | CA482682756 | MMP17 | c.450A>T (p.Pro150=) c.*137A>T (n.*137A>T) c.-28A>T (n.-28A>T) c.198A>T (p.Pro66=) c.138A>T (p.Pro46=) n.538A>T n.531A>T | |
| 12 | g.131840600_131840601insTGTA | CA2798039233 | MMP17 | c.450_451insTGTA (p.Leu151CysfsTer?) c.*137_*138insTGTA (n.*137_*138insTGTA) c.-28_-27insTGTA (n.-28_-27insTGTA) c.198_199insTGTA (p.Leu67CysfsTer?) c.138_139insTGTA (p.Leu47CysfsTer?) n.538_539insTGTA n.531_532insTGTA | |
| 12 | g.131840601C>A | CA387286740 | MMP17 | c.451C>A (p.Leu151Met) c.*138C>A (n.*138C>A) c.-27C>A (n.-27C>A) c.199C>A (p.Leu67Met) c.139C>A (p.Leu47Met) n.539C>A n.532C>A | |
| 12 | g.131840601C= | CA2072565074 | MMP17 | c.451C= (p.Leu151=) c.*138C= (n.*138C=) c.-27C= (n.-27C=) c.199C= (p.Leu67=) c.139C= (p.Leu47=) n.539C= n.532C= | |
| 12 | g.131840601C>G | CA246118693 | MMP17 | c.451C>G (p.Leu151Val) c.*138C>G (n.*138C>G) c.-27C>G (n.-27C>G) c.199C>G (p.Leu67Val) c.139C>G (p.Leu47Val) n.539C>G n.532C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.131840601C>T | CA482682761 | MMP17 | c.451C>T (p.Leu151=) c.*138C>T (n.*138C>T) c.-27C>T (n.-27C>T) c.199C>T (p.Leu67=) c.139C>T (p.Leu47=) n.539C>T n.532C>T | gnomAD v4 |
| 12 | g.131840602T>A | CA387286762 | MMP17 | c.452T>A (p.Leu151Gln) c.*139T>A (n.*139T>A) c.-26T>A (n.-26T>A) c.200T>A (p.Leu67Gln) c.140T>A (p.Leu47Gln) n.540T>A n.533T>A | |
| 12 | g.131840602T>C | CA387286763 | MMP17 | c.452T>C (p.Leu151Pro) c.*139T>C (n.*139T>C) c.-26T>C (n.-26T>C) c.200T>C (p.Leu67Pro) c.140T>C (p.Leu47Pro) n.540T>C n.533T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.131840602T>G | CA387286765 | MMP17 | c.452T>G (p.Leu151Arg) c.*139T>G (n.*139T>G) c.-26T>G (n.-26T>G) c.200T>G (p.Leu67Arg) c.140T>G (p.Leu47Arg) n.540T>G n.533T>G | |
| 12 | g.131840602T= | CA2072565075 | MMP17 | c.452T= (p.Leu151=) c.*139T= (n.*139T=) c.-26T= (n.-26T=) c.200T= (p.Leu67=) c.140T= (p.Leu47=) n.540T= n.533T= | |
| 12 | g.131840602_131840603insAC | CA2798039234 | MMP17 | c.452_453insAC (p.Gly152ArgfsTer23) c.*139_*140insAC (n.*139_*140insAC) c.-26_-25insAC (n.-26_-25insAC) c.200_201insAC (p.Gly68ArgfsTer23) c.140_141insAC (p.Gly48ArgfsTer23) n.540_541insAC n.533_534insAC | |
| 12 | g.131840603G>A | CA482682768 | MMP17 | c.453G>A (p.Leu151=) c.*140G>A (n.*140G>A) c.-25G>A (n.-25G>A) c.201G>A (p.Leu67=) c.141G>A (p.Leu47=) n.541G>A n.534G>A | |
| 12 | g.131840603G>C | CA482682771 | MMP17 | c.453G>C (p.Leu151=) c.*140G>C (n.*140G>C) c.-25G>C (n.-25G>C) c.201G>C (p.Leu67=) c.141G>C (p.Leu47=) n.541G>C n.534G>C | |
| 12 | g.131840603G>T | CA482682769 | MMP17 | c.453G>T (p.Leu151=) c.*140G>T (n.*140G>T) c.-25G>T (n.-25G>T) c.201G>T (p.Leu67=) c.141G>T (p.Leu47=) n.541G>T n.534G>T | gnomAD v4 |
| 12 | g.131840604G>A | CA387286768 | MMP17 | c.454G>A (p.Gly152Arg) c.*141G>A (n.*141G>A) c.-24G>A (n.-24G>A) c.202G>A (p.Gly68Arg) c.142G>A (p.Gly48Arg) n.542G>A n.535G>A | COSMIC |
| 12 | g.131840604G>C | CA387286770 | MMP17 | c.454G>C (p.Gly152Arg) c.*141G>C (n.*141G>C) c.-24G>C (n.-24G>C) c.202G>C (p.Gly68Arg) c.142G>C (p.Gly48Arg) n.542G>C n.535G>C | |
| 12 | g.131840604G>T | CA387286773 | MMP17 | c.454G>T (p.Gly152Trp) c.*141G>T (n.*141G>T) c.-24G>T (n.-24G>T) c.202G>T (p.Gly68Trp) c.142G>T (p.Gly48Trp) n.542G>T n.535G>T | gnomAD v4 COSMIC |
| 12 | g.131840605G>A | CA387286775 | MMP17 | c.455G>A (p.Gly152Glu) c.*142G>A (n.*142G>A) c.-23G>A (n.-23G>A) c.203G>A (p.Gly68Glu) c.143G>A (p.Gly48Glu) n.543G>A n.536G>A | |
| 12 | g.131840605G>C | CA387286779 | MMP17 | c.455G>C (p.Gly152Ala) c.*142G>C (n.*142G>C) c.-23G>C (n.-23G>C) c.203G>C (p.Gly68Ala) c.143G>C (p.Gly48Ala) n.543G>C n.536G>C | |
| 12 | g.131840605G>T | CA387286782 | MMP17 | c.455G>T (p.Gly152Val) c.*142G>T (n.*142G>T) c.-23G>T (n.-23G>T) c.203G>T (p.Gly68Val) c.143G>T (p.Gly48Val) n.543G>T n.536G>T | gnomAD v4 |
| 12 | g.131840606G>A | CA246118695 | MMP17 | c.456G>A (p.Gly152=) c.*143G>A (n.*143G>A) c.-22G>A (n.-22G>A) c.204G>A (p.Gly68=) c.144G>A (p.Gly48=) n.544G>A n.537G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.131840606G>C | CA482682782 | MMP17 | c.456G>C (p.Gly152=) c.*143G>C (n.*143G>C) c.-22G>C (n.-22G>C) c.204G>C (p.Gly68=) c.144G>C (p.Gly48=) n.544G>C n.537G>C | |
| 12 | g.131840606G= | CA2072565077 | MMP17 | c.456G= (p.Gly152=) c.*143G= (n.*143G=) c.-22G= (n.-22G=) c.204G= (p.Gly68=) c.144G= (p.Gly48=) n.544G= n.537G= | |
| 12 | g.131840606G>T | CA6881721 | MMP17 | c.456G>T (p.Gly152=) c.*143G>T (n.*143G>T) c.-22G>T (n.-22G>T) c.204G>T (p.Gly68=) c.144G>T (p.Gly48=) n.544G>T n.537G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840607C>A | CA387286794 | MMP17 | c.457C>A (p.His153Asn) c.*144C>A (n.*144C>A) c.-21C>A (n.-21C>A) c.205C>A (p.His69Asn) c.145C>A (p.His49Asn) n.545C>A n.538C>A | |
| 12 | g.131840607C= | CA2072565079 | MMP17 | c.457C= (p.His153=) c.*144C= (n.*144C=) c.-21C= (n.-21C=) c.205C= (p.His69=) c.145C= (p.His49=) n.545C= n.538C= | |
| 12 | g.131840607C>G | CA387286786 | MMP17 | c.457C>G (p.His153Asp) c.*144C>G (n.*144C>G) c.-21C>G (n.-21C>G) c.205C>G (p.His69Asp) c.145C>G (p.His49Asp) n.545C>G n.538C>G | gnomAD v4 |
| 12 | g.131840607C>T | CA387286790 | MMP17 | c.457C>T (p.His153Tyr) c.*144C>T (n.*144C>T) c.-21C>T (n.-21C>T) c.205C>T (p.His69Tyr) c.145C>T (p.His49Tyr) n.545C>T n.538C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840608A>C | CA387286799 | MMP17 | c.458A>C (p.His153Pro) c.*145A>C (n.*145A>C) c.-20A>C (n.-20A>C) c.206A>C (p.His69Pro) c.146A>C (p.His49Pro) n.546A>C n.539A>C | |
| 12 | g.131840608A>G | CA387286800 | MMP17 | c.458A>G (p.His153Arg) c.*145A>G (n.*145A>G) c.-20A>G (n.-20A>G) c.206A>G (p.His69Arg) c.146A>G (p.His49Arg) n.546A>G n.539A>G | |
| 12 | g.131840608A>T | CA387286801 | MMP17 | c.458A>T (p.His153Leu) c.*145A>T (n.*145A>T) c.-20A>T (n.-20A>T) c.206A>T (p.His69Leu) c.146A>T (p.His49Leu) n.546A>T n.539A>T | |
| 12 | g.131840610_131840612del | CA2621949727 | MMP17 | c.460_462del (p.Asp154del) c.*147_*149del (n.*147_*149del) c.-18_-16del (n.-18_-16del) c.208_210del (p.Asp70del) c.148_150del (p.Asp50del) n.548_550del n.541_543del | gnomAD v4 |
| 12 | g.131840609C>A | CA387286806 | MMP17 | c.459C>A (p.His153Gln) c.*146C>A (n.*146C>A) c.-19C>A (n.-19C>A) c.207C>A (p.His69Gln) c.147C>A (p.His49Gln) n.547C>A n.540C>A | gnomAD v4 |
| 12 | g.131840609C= | CA2072565080 | MMP17 | c.459C= (p.His153=) c.*146C= (n.*146C=) c.-19C= (n.-19C=) c.207C= (p.His69=) c.147C= (p.His49=) n.547C= n.540C= | |
| 12 | g.131840609C>G | CA387286808 | MMP17 | c.459C>G (p.His153Gln) c.*146C>G (n.*146C>G) c.-19C>G (n.-19C>G) c.207C>G (p.His69Gln) c.147C>G (p.His49Gln) n.547C>G n.540C>G | |
| 12 | g.131840609C>T | CA6881722 | MMP17 | c.459C>T (p.His153=) c.*146C>T (n.*146C>T) c.-19C>T (n.-19C>T) c.207C>T (p.His69=) c.147C>T (p.His49=) n.547C>T n.540C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840610G>A | CA6881723 | MMP17 | c.460G>A (p.Asp154Asn) c.*147G>A (n.*147G>A) c.-18G>A (n.-18G>A) c.208G>A (p.Asp70Asn) c.148G>A (p.Asp50Asn) n.548G>A n.541G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840610G>C | CA387286816 | MMP17 | c.460G>C (p.Asp154His) c.*147G>C (n.*147G>C) c.-18G>C (n.-18G>C) c.208G>C (p.Asp70His) c.148G>C (p.Asp50His) n.548G>C n.541G>C | dbSNP gnomAD v4 |
| 12 | g.131840610G= | CA2072565081 | MMP17 | c.460G= (p.Asp154=) c.*147G= (n.*147G=) c.-18G= (n.-18G=) c.208G= (p.Asp70=) c.148G= (p.Asp50=) n.548G= n.541G= | |
| 12 | g.131840610G>T | CA387286819 | MMP17 | c.460G>T (p.Asp154Tyr) c.*147G>T (n.*147G>T) c.-18G>T (n.-18G>T) c.208G>T (p.Asp70Tyr) c.148G>T (p.Asp50Tyr) n.548G>T n.541G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.131840610dup | CA2621949728 | MMP17 | c.460dup (p.Asp154GlyfsTer?) c.*147dup (n.*147dup) c.-18dup (n.-18dup) c.208dup (p.Asp70GlyfsTer?) c.148dup (p.Asp50GlyfsTer?) n.548dup n.541dup | gnomAD v4 |
| 12 | g.131840611A>C | CA387286821 | MMP17 | c.461A>C (p.Asp154Ala) c.*148A>C (n.*148A>C) c.-17A>C (n.-17A>C) c.209A>C (p.Asp70Ala) c.149A>C (p.Asp50Ala) n.549A>C n.542A>C | |
| 12 | g.131840611A>G | CA387286824 | MMP17 | c.461A>G (p.Asp154Gly) c.*148A>G (n.*148A>G) c.-17A>G (n.-17A>G) c.209A>G (p.Asp70Gly) c.149A>G (p.Asp50Gly) n.549A>G n.542A>G | |
| 12 | g.131840611A>T | CA387286827 | MMP17 | c.461A>T (p.Asp154Val) c.*148A>T (n.*148A>T) c.-17A>T (n.-17A>T) c.209A>T (p.Asp70Val) c.149A>T (p.Asp50Val) n.549A>T n.542A>T | |
| 12 | g.131840612C>A | CA387286832 | MMP17 | c.462C>A (p.Asp154Glu) c.*149C>A (n.*149C>A) c.-16C>A (n.-16C>A) c.210C>A (p.Asp70Glu) c.150C>A (p.Asp50Glu) n.550C>A n.543C>A | dbSNP |
| 12 | g.131840612C= | CA2072565082 | MMP17 | c.462C= (p.Asp154=) c.*149C= (n.*149C=) c.-16C= (n.-16C=) c.210C= (p.Asp70=) c.150C= (p.Asp50=) n.550C= n.543C= | |
| 12 | g.131840612C>G | CA387286830 | MMP17 | c.462C>G (p.Asp154Glu) c.*149C>G (n.*149C>G) c.-16C>G (n.-16C>G) c.210C>G (p.Asp70Glu) c.150C>G (p.Asp50Glu) n.550C>G n.543C>G | |
| 12 | g.131840612C>T | CA482682807 | MMP17 | c.462C>T (p.Asp154=) c.*149C>T (n.*149C>T) c.-16C>T (n.-16C>T) c.210C>T (p.Asp70=) c.150C>T (p.Asp50=) n.550C>T n.543C>T | |
| 12 | g.131840613A= | CA2072565085 | MMP17 | c.463A= (p.Thr155=) c.*150A= (n.*150A=) c.-15A= (n.-15A=) c.211A= (p.Thr71=) c.151A= (p.Thr51=) n.551A= n.544A= | |
| 12 | g.131840613A>C | CA387286837 | MMP17 | c.463A>C (p.Thr155Pro) c.*150A>C (n.*150A>C) c.-15A>C (n.-15A>C) c.211A>C (p.Thr71Pro) c.151A>C (p.Thr51Pro) n.551A>C n.544A>C | |
| 12 | g.131840613A>G | CA6881724 | MMP17 | c.463A>G (p.Thr155Ala) c.*150A>G (n.*150A>G) c.-15A>G (n.-15A>G) c.211A>G (p.Thr71Ala) c.151A>G (p.Thr51Ala) n.551A>G n.544A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.131840613A>T | CA6881725 | MMP17 | c.463A>T (p.Thr155Ser) c.*150A>T (n.*150A>T) c.-15A>T (n.-15A>T) c.211A>T (p.Thr71Ser) c.151A>T (p.Thr51Ser) n.551A>T n.544A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.131840614C>A | CA6881727 | MMP17 | c.464C>A (p.Thr155Lys) c.*151C>A (n.*151C>A) c.-14C>A (n.-14C>A) c.212C>A (p.Thr71Lys) c.152C>A (p.Thr51Lys) n.552C>A n.545C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.131840614C= | CA2072565089 | MMP17 | c.464C= (p.Thr155=) c.*151C= (n.*151C=) c.-14C= (n.-14C=) c.212C= (p.Thr71=) c.152C= (p.Thr51=) n.552C= n.545C= | |
| 12 | g.131840614C>G | CA6881726 | MMP17 | c.464C>G (p.Thr155Arg) c.*151C>G (n.*151C>G) c.-14C>G (n.-14C>G) c.212C>G (p.Thr71Arg) c.152C>G (p.Thr51Arg) n.552C>G n.545C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840614C>T | CA6881728 | MMP17 | c.464C>T (p.Thr155Met) c.*151C>T (n.*151C>T) c.-14C>T (n.-14C>T) c.212C>T (p.Thr71Met) c.152C>T (p.Thr51Met) n.552C>T n.545C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840616_131840620dup | CA2621949729 | MMP17 | c.466_470dup (p.Ala158CysfsTer18) c.*153_*157dup (n.*153_*157dup) c.-12_-8dup (n.-12_-8dup) c.214_218dup (p.Ala74CysfsTer18) c.154_158dup (p.Ala54CysfsTer18) n.554_558dup n.547_551dup | gnomAD v4 |
| 12 | g.131840616_131840620del | CA2621949730 | MMP17 | c.466_470del (p.Val156CysfsTer?) c.*153_*157del (n.*153_*157del) c.-12_-8del (n.-12_-8del) c.214_218del (p.Val72CysfsTer?) c.154_158del (p.Val52CysfsTer?) n.554_558del n.547_551del | gnomAD v4 |
| 12 | g.131840615G>A | CA482682819 | MMP17 | c.465G>A (p.Thr155=) c.*152G>A (n.*152G>A) c.-13G>A (n.-13G>A) c.213G>A (p.Thr71=) c.153G>A (p.Thr51=) n.553G>A n.546G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840615G>C | CA246118752 | MMP17 | c.465G>C (p.Thr155=) c.*152G>C (n.*152G>C) c.-13G>C (n.-13G>C) c.213G>C (p.Thr71=) c.153G>C (p.Thr51=) n.553G>C n.546G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.131840615G= | CA2072565094 | MMP17 | c.465G= (p.Thr155=) c.*152G= (n.*152G=) c.-13G= (n.-13G=) c.213G= (p.Thr71=) c.153G= (p.Thr51=) n.553G= n.546G= | |
| 12 | g.131840615G>T | CA482682823 | MMP17 | c.465G>T (p.Thr155=) c.*152G>T (n.*152G>T) c.-13G>T (n.-13G>T) c.213G>T (p.Thr71=) c.153G>T (p.Thr51=) n.553G>T n.546G>T | gnomAD v4 |
| 12 | g.131840616G>A | CA246118756 | MMP17 | c.466G>A (p.Val156Met) c.*153G>A (n.*153G>A) c.-12G>A (n.-12G>A) c.214G>A (p.Val72Met) c.154G>A (p.Val52Met) n.554G>A n.547G>A | dbSNP gnomAD v4 |
| 12 | g.131840616G>C | CA387286852 | MMP17 | c.466G>C (p.Val156Leu) c.*153G>C (n.*153G>C) c.-12G>C (n.-12G>C) c.214G>C (p.Val72Leu) c.154G>C (p.Val52Leu) n.554G>C n.547G>C | |
| 12 | g.131840616G= | CA2072565096 | MMP17 | c.466G= (p.Val156=) c.*153G= (n.*153G=) c.-12G= (n.-12G=) c.214G= (p.Val72=) c.154G= (p.Val52=) n.554G= n.547G= | |
| 12 | g.131840616G>T | CA387286855 | MMP17 | c.466G>T (p.Val156Leu) c.*153G>T (n.*153G>T) c.-12G>T (n.-12G>T) c.214G>T (p.Val72Leu) c.154G>T (p.Val52Leu) n.554G>T n.547G>T | gnomAD v4 |
| 12 | g.131840617T>A | CA387286860 | MMP17 | c.467T>A (p.Val156Glu) c.*154T>A (n.*154T>A) c.-11T>A (n.-11T>A) c.215T>A (p.Val72Glu) c.155T>A (p.Val52Glu) n.555T>A n.548T>A | |
| 12 | g.131840617T>C | CA387286862 | MMP17 | c.467T>C (p.Val156Ala) c.*154T>C (n.*154T>C) c.-11T>C (n.-11T>C) c.215T>C (p.Val72Ala) c.155T>C (p.Val52Ala) n.555T>C n.548T>C | |
| 12 | g.131840617T>G | CA387286865 | MMP17 | c.467T>G (p.Val156Gly) c.*154T>G (n.*154T>G) c.-11T>G (n.-11T>G) c.215T>G (p.Val72Gly) c.155T>G (p.Val52Gly) n.555T>G n.548T>G | |
| 12 | g.131840618G>A | CA482682833 | MMP17 | c.468G>A (p.Val156=) c.*155G>A (n.*155G>A) c.-10G>A (n.-10G>A) c.216G>A (p.Val72=) c.156G>A (p.Val52=) n.556G>A n.549G>A | |
| 12 | g.131840618G>C | CA482682834 | MMP17 | c.468G>C (p.Val156=) c.*155G>C (n.*155G>C) c.-10G>C (n.-10G>C) c.216G>C (p.Val72=) c.156G>C (p.Val52=) n.556G>C n.549G>C | dbSNP |
| 12 | g.131840618G= | CA2072565098 | MMP17 | c.468G= (p.Val156=) c.*155G= (n.*155G=) c.-10G= (n.-10G=) c.216G= (p.Val72=) c.156G= (p.Val52=) n.556G= n.549G= | |
| 12 | g.131840618G>T | CA482682836 | MMP17 | c.468G>T (p.Val156=) c.*155G>T (n.*155G>T) c.-10G>T (n.-10G>T) c.216G>T (p.Val72=) c.156G>T (p.Val52=) n.556G>T n.549G>T | gnomAD v4 |
| 12 | g.131840619C>A | CA387286874 | MMP17 | c.469C>A (p.Arg157Ser) c.*156C>A (n.*156C>A) c.-9C>A (n.-9C>A) c.217C>A (p.Arg73Ser) c.157C>A (p.Arg53Ser) n.557C>A n.550C>A | |
| 12 | g.131840619C= | CA2072565101 | MMP17 | c.469C= (p.Arg157=) c.*156C= (n.*156C=) c.-9C= (n.-9C=) c.217C= (p.Arg73=) c.157C= (p.Arg53=) n.557C= n.550C= | |
| 12 | g.131840619C>G | CA387286871 | MMP17 | c.469C>G (p.Arg157Gly) c.*156C>G (n.*156C>G) c.-9C>G (n.-9C>G) c.217C>G (p.Arg73Gly) c.157C>G (p.Arg53Gly) n.557C>G n.550C>G | |
| 12 | g.131840619C>T | CA6881729 | MMP17 | c.469C>T (p.Arg157Cys) c.*156C>T (n.*156C>T) c.-9C>T (n.-9C>T) c.217C>T (p.Arg73Cys) c.157C>T (p.Arg53Cys) n.557C>T n.550C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840620G>A | CA387286877 | MMP17 | c.470G>A (p.Arg157His) c.*157G>A (n.*157G>A) c.-8G>A (n.-8G>A) c.218G>A (p.Arg73His) c.158G>A (p.Arg53His) n.558G>A n.551G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840620G>C | CA387286880 | MMP17 | c.470G>C (p.Arg157Pro) c.*157G>C (n.*157G>C) c.-8G>C (n.-8G>C) c.218G>C (p.Arg73Pro) c.158G>C (p.Arg53Pro) n.558G>C n.551G>C | |
| 12 | g.131840620G= | CA2072565103 | MMP17 | c.470G= (p.Arg157=) c.*157G= (n.*157G=) c.-8G= (n.-8G=) c.218G= (p.Arg73=) c.158G= (p.Arg53=) n.558G= n.551G= | |
| 12 | g.131840620G>T | CA387286881 | MMP17 | c.470G>T (p.Arg157Leu) c.*157G>T (n.*157G>T) c.-8G>T (n.-8G>T) c.218G>T (p.Arg73Leu) c.158G>T (p.Arg53Leu) n.558G>T n.551G>T | dbSNP |
| 12 | g.131840621T>A | CA482682846 | MMP17 | c.471T>A (p.Arg157=) c.*158T>A (n.*158T>A) c.-7T>A (n.-7T>A) c.219T>A (p.Arg73=) c.159T>A (p.Arg53=) n.559T>A n.552T>A | |
| 12 | g.131840621T>C | CA482682848 | MMP17 | c.471T>C (p.Arg157=) c.*158T>C (n.*158T>C) c.-7T>C (n.-7T>C) c.219T>C (p.Arg73=) c.159T>C (p.Arg53=) n.559T>C n.552T>C | |
| 12 | g.131840621T>G | CA482682850 | MMP17 | c.471T>G (p.Arg157=) c.*158T>G (n.*158T>G) c.-7T>G (n.-7T>G) c.219T>G (p.Arg73=) c.159T>G (p.Arg53=) n.559T>G n.552T>G | |
| 12 | g.131840621_131840622insA | CA2621949731 | MMP17 | c.471_472insA (p.Ala158SerfsTer?) c.*158_*159insA (n.*158_*159insA) c.-7_-6insA (n.-7_-6insA) c.219_220insA (p.Ala74SerfsTer?) c.159_160insA (p.Ala54SerfsTer?) n.559_560insA n.552_553insA | gnomAD v4 |
| 12 | g.131840622G>A | CA387286885 | MMP17 | c.472G>A (p.Ala158Thr) c.*159G>A (n.*159G>A) c.-6G>A (n.-6G>A) c.220G>A (p.Ala74Thr) c.160G>A (p.Ala54Thr) n.560G>A n.553G>A | gnomAD v4 |
| 12 | g.131840622G>C | CA387286888 | MMP17 | c.472G>C (p.Ala158Pro) c.*159G>C (n.*159G>C) c.-6G>C (n.-6G>C) c.220G>C (p.Ala74Pro) c.160G>C (p.Ala54Pro) n.560G>C n.553G>C | |
| 12 | g.131840622G= | CA2072565105 | MMP17 | c.472G= (p.Ala158=) c.*159G= (n.*159G=) c.-6G= (n.-6G=) c.220G= (p.Ala74=) c.160G= (p.Ala54=) n.560G= n.553G= | |
| 12 | g.131840622G>T | CA387286891 | MMP17 | c.472G>T (p.Ala158Ser) c.*159G>T (n.*159G>T) c.-6G>T (n.-6G>T) c.220G>T (p.Ala74Ser) c.160G>T (p.Ala54Ser) n.560G>T n.553G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840623C>A | CA387286895 | MMP17 | c.473C>A (p.Ala158Glu) c.*160C>A (n.*160C>A) c.-5C>A (n.-5C>A) c.221C>A (p.Ala74Glu) c.161C>A (p.Ala54Glu) n.561C>A n.554C>A | gnomAD v4 |
| 12 | g.131840623C>G | CA387286897 | MMP17 | c.473C>G (p.Ala158Gly) c.*160C>G (n.*160C>G) c.-5C>G (n.-5C>G) c.221C>G (p.Ala74Gly) c.161C>G (p.Ala54Gly) n.561C>G n.554C>G | gnomAD v4 |
| 12 | g.131840623C>T | CA387286898 | MMP17 | c.473C>T (p.Ala158Val) c.*160C>T (n.*160C>T) c.-5C>T (n.-5C>T) c.221C>T (p.Ala74Val) c.161C>T (p.Ala54Val) n.561C>T n.554C>T | gnomAD v4 |
| 12 | g.131840624A= | CA2072565108 | MMP17 | c.474A= (p.Ala158=) c.*161A= (n.*161A=) c.-4A= (n.-4A=) c.222A= (p.Ala74=) c.162A= (p.Ala54=) n.562A= n.555A= | |
| 12 | g.131840624A>C | CA482682860 | MMP17 | c.474A>C (p.Ala158=) c.*161A>C (n.*161A>C) c.-4A>C (n.-4A>C) c.222A>C (p.Ala74=) c.162A>C (p.Ala54=) n.562A>C n.555A>C | |
| 12 | g.131840624A>G | CA482682862 | MMP17 | c.474A>G (p.Ala158=) c.*161A>G (n.*161A>G) c.-4A>G (n.-4A>G) c.222A>G (p.Ala74=) c.162A>G (p.Ala54=) n.562A>G n.555A>G | dbSNP gnomAD v4 |
| 12 | g.131840624A>T | CA482682864 | MMP17 | c.474A>T (p.Ala158=) c.*161A>T (n.*161A>T) c.-4A>T (n.-4A>T) c.222A>T (p.Ala74=) c.162A>T (p.Ala54=) n.562A>T n.555A>T | |
| 12 | g.131840625C>A | CA387286911 | MMP17 | c.475C>A (p.Leu159Ile) c.*162C>A (n.*162C>A) c.-3C>A (n.-3C>A) c.223C>A (p.Leu75Ile) c.163C>A (p.Leu55Ile) n.563C>A n.556C>A | |
| 12 | g.131840625C>G | CA387286917 | MMP17 | c.475C>G (p.Leu159Val) c.*162C>G (n.*162C>G) c.-3C>G (n.-3C>G) c.223C>G (p.Leu75Val) c.163C>G (p.Leu55Val) n.563C>G n.556C>G | |
| 12 | g.131840625C>T | CA387286918 | MMP17 | c.475C>T (p.Leu159Phe) c.*162C>T (n.*162C>T) c.-3C>T (n.-3C>T) c.223C>T (p.Leu75Phe) c.163C>T (p.Leu55Phe) n.563C>T n.556C>T | |
| 12 | g.131840626T>A | CA387286925 | MMP17 | c.476T>A (p.Leu159His) c.*163T>A (n.*163T>A) c.-2T>A (n.-2T>A) c.224T>A (p.Leu75His) c.164T>A (p.Leu55His) n.564T>A n.557T>A | |
| 12 | g.131840626T>C | CA387286927 | MMP17 | c.476T>C (p.Leu159Pro) c.*163T>C (n.*163T>C) c.-2T>C (n.-2T>C) c.224T>C (p.Leu75Pro) c.164T>C (p.Leu55Pro) n.564T>C n.557T>C | |
| 12 | g.131840626T>G | CA387286920 | MMP17 | c.476T>G (p.Leu159Arg) c.*163T>G (n.*163T>G) c.-2T>G (n.-2T>G) c.224T>G (p.Leu75Arg) c.164T>G (p.Leu55Arg) n.564T>G n.557T>G | |
| 12 | g.131840627C>A | CA482682874 | MMP17 | c.477C>A (p.Leu159=) c.*164C>A (n.*164C>A) c.-1C>A (n.-1C>A) c.225C>A (p.Leu75=) c.165C>A (p.Leu55=) n.565C>A n.558C>A | |
| 12 | g.131840627C>G | CA482682876 | MMP17 | c.477C>G (p.Leu159=) c.*164C>G (n.*164C>G) c.-1C>G (n.-1C>G) c.225C>G (p.Leu75=) c.165C>G (p.Leu55=) n.565C>G n.558C>G | |
| 12 | g.131840627C>T | CA482682877 | MMP17 | c.477C>T (p.Leu159=) c.*164C>T (n.*164C>T) c.-1C>T (n.-1C>T) c.225C>T (p.Leu75=) c.165C>T (p.Leu55=) n.565C>T n.558C>T | gnomAD v4 |
| 12 | g.131840627_131840629delinsCAT | CA2072565110 | MMP17 | c.477_479delinsCAT (p.Leu159=) c.*164_*166delinsCAT (n.*164_*166delinsCAT) c.-1_2delinsCAT c.225_227delinsCAT (p.Leu75=) c.165_167delinsCAT (p.Leu55=) n.565_567delinsCAT n.558_560delinsCAT | |
| 12 | g.131840628A= | CA2072565112 | MMP17 | c.478A= (p.Met160=) c.*165A= (n.*165A=) c.1A= (p.Met1=) c.226A= (p.Met76=) c.166A= (p.Met56=) n.566A= n.559A= | |
| 12 | g.131840628A>C | CA6881730 | MMP17 | c.478A>C (p.Met160Leu) c.*165A>C (n.*165A>C) c.1A>C (p.Met1Leu) c.226A>C (p.Met76Leu) c.166A>C (p.Met56Leu) n.566A>C n.559A>C | dbSNP ExAC |
| 12 | g.131840628A>G | CA387286931 | MMP17 | c.478A>G (p.Met160Val) c.*165A>G (n.*165A>G) c.1A>G (p.Met1Val) c.226A>G (p.Met76Val) c.166A>G (p.Met56Val) n.566A>G n.559A>G | gnomAD v4 |
| 12 | g.131840628A>T | CA387286934 | MMP17 | c.478A>T (p.Met160Leu) c.*165A>T (n.*165A>T) c.1A>T (p.Met1Leu) c.226A>T (p.Met76Leu) c.166A>T (p.Met56Leu) n.566A>T n.559A>T | |
| 12 | g.131840628_131840629del | CA608510725 | MMP17 | c.478_479del (p.Met160ValfsTer?) c.*165_*166del (n.*165_*166del) c.1_2del (p.Met1ValfsTer?) c.226_227del (p.Met76ValfsTer?) c.166_167del (p.Met56ValfsTer?) n.566_567del n.559_560del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840629T>A | CA387286936 | MMP17 | c.479T>A (p.Met160Lys) c.*166T>A (n.*166T>A) c.2T>A (p.Met1Lys) c.227T>A (p.Met76Lys) c.167T>A (p.Met56Lys) n.567T>A n.560T>A | |
| 12 | g.131840629T>C | CA387286938 | MMP17 | c.479T>C (p.Met160Thr) c.*166T>C (n.*166T>C) c.2T>C (p.Met1Thr) c.227T>C (p.Met76Thr) c.167T>C (p.Met56Thr) n.567T>C n.560T>C | |
| 12 | g.131840629T>G | CA387286940 | MMP17 | c.479T>G (p.Met160Arg) c.*166T>G (n.*166T>G) c.2T>G (p.Met1Arg) c.227T>G (p.Met76Arg) c.167T>G (p.Met56Arg) n.567T>G n.560T>G | |
| 12 | g.131840630G>A | CA387286945 | MMP17 | c.480G>A (p.Met160Ile) c.*167G>A (n.*167G>A) c.3G>A (p.Met1Ile) c.228G>A (p.Met76Ile) c.168G>A (p.Met56Ile) n.568G>A n.561G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840630G>C | CA387286946 | MMP17 | c.480G>C (p.Met160Ile) c.*167G>C (n.*167G>C) c.3G>C (p.Met1Ile) c.228G>C (p.Met76Ile) c.168G>C (p.Met56Ile) n.568G>C n.561G>C | |
| 12 | g.131840630G= | CA2072565114 | MMP17 | c.480G= (p.Met160=) c.*167G= (n.*167G=) c.3G= (p.Met1=) c.228G= (p.Met76=) c.168G= (p.Met56=) n.568G= n.561G= | |
| 12 | g.131840630G>T | CA387286948 | MMP17 | c.480G>T (p.Met160Ile) c.*167G>T (n.*167G>T) c.3G>T (p.Met1Ile) c.228G>T (p.Met76Ile) c.168G>T (p.Met56Ile) n.568G>T n.561G>T | gnomAD v4 COSMIC |
| 12 | g.131840631T>A | CA387286950 | MMP17 | c.481T>A (p.Tyr161Asn) c.*168T>A (n.*168T>A) c.4T>A (p.Tyr2Asn) c.229T>A (p.Tyr77Asn) c.169T>A (p.Tyr57Asn) n.569T>A n.562T>A | |
| 12 | g.131840631T>C | CA387286951 | MMP17 | c.481T>C (p.Tyr161His) c.*168T>C (n.*168T>C) c.4T>C (p.Tyr2His) c.229T>C (p.Tyr77His) c.169T>C (p.Tyr57His) n.569T>C n.562T>C | |
| 12 | g.131840631T>G | CA387286952 | MMP17 | c.481T>G (p.Tyr161Asp) c.*168T>G (n.*168T>G) c.4T>G (p.Tyr2Asp) c.229T>G (p.Tyr77Asp) c.169T>G (p.Tyr57Asp) n.569T>G n.562T>G | |
| 12 | g.131840634_131840636del | CA2621949732 | MMP17 | c.484_486del (p.Tyr162del) c.*171_*173del (n.*171_*173del) c.7_9del (p.Tyr3del) c.232_234del (p.Tyr78del) c.172_174del (p.Tyr58del) n.572_574del n.565_567del | gnomAD v4 |
| 12 | g.131840631_131840676delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC | CA2072565117 | MMP17 | c.481_526delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC (p.Tyr161=) c.*168_*213delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC (n.*168_*213delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC) c.4_49delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC (p.Tyr2=) c.229_274delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC (p.Tyr77=) c.169_214delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC (p.Tyr57=) n.569_614delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC n.562_607delinsTACTACGCCCTCAAGGTCTGGAGCGACATTGCGCCCCTGAACTTCC | |
| 12 | g.131840632A= | CA2072565118 | MMP17 | c.482A= (p.Tyr161=) c.*169A= (n.*169A=) c.5A= (p.Tyr2=) c.230A= (p.Tyr77=) c.170A= (p.Tyr57=) n.570A= n.563A= | |
| 12 | g.131840632A>C | CA387286957 | MMP17 | c.482A>C (p.Tyr161Ser) c.*169A>C (n.*169A>C) c.5A>C (p.Tyr2Ser) c.230A>C (p.Tyr77Ser) c.170A>C (p.Tyr57Ser) n.570A>C n.563A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840632A>G | CA387286955 | MMP17 | c.482A>G (p.Tyr161Cys) c.*169A>G (n.*169A>G) c.5A>G (p.Tyr2Cys) c.230A>G (p.Tyr77Cys) c.170A>G (p.Tyr57Cys) n.570A>G n.563A>G | |
| 12 | g.131840632A>T | CA387286954 | MMP17 | c.482A>T (p.Tyr161Phe) c.*169A>T (n.*169A>T) c.5A>T (p.Tyr2Phe) c.230A>T (p.Tyr77Phe) c.170A>T (p.Tyr57Phe) n.570A>T n.563A>T | |
| 12 | g.131840634_131840678del | CA6881731 | MMP17 | c.484_528del (p.Tyr162_His176del) c.*171_*215del (n.*171_*215del) c.7_51del (p.Tyr3_His17del) c.232_276del (p.Tyr78_His92del) c.172_216del (p.Tyr58_His72del) n.572_616del n.565_609del | dbSNP ExAC gnomAD v2 |
| 12 | g.131840633C>A | CA387286960 | MMP17 | c.483C>A (p.Tyr161Ter) c.*170C>A (n.*170C>A) c.6C>A (p.Tyr2Ter) c.231C>A (p.Tyr77Ter) c.171C>A (p.Tyr57Ter) n.571C>A n.564C>A | |
| 12 | g.131840633C>G | CA387286964 | MMP17 | c.483C>G (p.Tyr161Ter) c.*170C>G (n.*170C>G) c.6C>G (p.Tyr2Ter) c.231C>G (p.Tyr77Ter) c.171C>G (p.Tyr57Ter) n.571C>G n.564C>G | gnomAD v4 COSMIC |
| 12 | g.131840633C>T | CA482682904 | MMP17 | c.483C>T (p.Tyr161=) c.*170C>T (n.*170C>T) c.6C>T (p.Tyr2=) c.231C>T (p.Tyr77=) c.171C>T (p.Tyr57=) n.571C>T n.564C>T | |
| 12 | g.131840634T>A | CA387286967 | MMP17 | c.484T>A (p.Tyr162Asn) c.*171T>A (n.*171T>A) c.7T>A (p.Tyr3Asn) c.232T>A (p.Tyr78Asn) c.172T>A (p.Tyr58Asn) n.572T>A n.565T>A | |
| 12 | g.131840634T>C | CA387286970 | MMP17 | c.484T>C (p.Tyr162His) c.*171T>C (n.*171T>C) c.7T>C (p.Tyr3His) c.232T>C (p.Tyr78His) c.172T>C (p.Tyr58His) n.572T>C n.565T>C | |
| 12 | g.131840634T>G | CA387286985 | MMP17 | c.484T>G (p.Tyr162Asp) c.*171T>G (n.*171T>G) c.7T>G (p.Tyr3Asp) c.232T>G (p.Tyr78Asp) c.172T>G (p.Tyr58Asp) n.572T>G n.565T>G | gnomAD v4 |
| 12 | g.131840635A= | CA2072565119 | MMP17 | c.485A= (p.Tyr162=) c.*172A= (n.*172A=) c.8A= (p.Tyr3=) c.233A= (p.Tyr78=) c.173A= (p.Tyr58=) n.573A= n.566A= | |
| 12 | g.131840635A>C | CA387286988 | MMP17 | c.485A>C (p.Tyr162Ser) c.*172A>C (n.*172A>C) c.8A>C (p.Tyr3Ser) c.233A>C (p.Tyr78Ser) c.173A>C (p.Tyr58Ser) n.573A>C n.566A>C | |
| 12 | g.131840635A>G | CA6881732 | MMP17 | c.485A>G (p.Tyr162Cys) c.*172A>G (n.*172A>G) c.8A>G (p.Tyr3Cys) c.233A>G (p.Tyr78Cys) c.173A>G (p.Tyr58Cys) n.573A>G n.566A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840635A>T | CA387286992 | MMP17 | c.485A>T (p.Tyr162Phe) c.*172A>T (n.*172A>T) c.8A>T (p.Tyr3Phe) c.233A>T (p.Tyr78Phe) c.173A>T (p.Tyr58Phe) n.573A>T n.566A>T | |
| 12 | g.131840636C>A | CA387286993 | MMP17 | c.486C>A (p.Tyr162Ter) c.*173C>A (n.*173C>A) c.9C>A (p.Tyr3Ter) c.234C>A (p.Tyr78Ter) c.174C>A (p.Tyr58Ter) n.574C>A n.567C>A | |
| 12 | g.131840636C= | CA2072565123 | MMP17 | c.486C= (p.Tyr162=) c.*173C= (n.*173C=) c.9C= (p.Tyr3=) c.234C= (p.Tyr78=) c.174C= (p.Tyr58=) n.574C= n.567C= | |
| 12 | g.131840636C>G | CA387286998 | MMP17 | c.486C>G (p.Tyr162Ter) c.*173C>G (n.*173C>G) c.9C>G (p.Tyr3Ter) c.234C>G (p.Tyr78Ter) c.174C>G (p.Tyr58Ter) n.574C>G n.567C>G | |
| 12 | g.131840636C>T | CA482682913 | MMP17 | c.486C>T (p.Tyr162=) c.*173C>T (n.*173C>T) c.9C>T (p.Tyr3=) c.234C>T (p.Tyr78=) c.174C>T (p.Tyr58=) n.574C>T n.567C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.131840637G>A | CA246118783 | MMP17 | c.487G>A (p.Ala163Thr) c.*174G>A (n.*174G>A) c.10G>A (p.Ala4Thr) c.235G>A (p.Ala79Thr) c.175G>A (p.Ala59Thr) n.575G>A n.568G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840637G>C | CA387287005 | MMP17 | c.487G>C (p.Ala163Pro) c.*174G>C (n.*174G>C) c.10G>C (p.Ala4Pro) c.235G>C (p.Ala79Pro) c.175G>C (p.Ala59Pro) n.575G>C n.568G>C | |
| 12 | g.131840637G= | CA2072565124 | MMP17 | c.487G= (p.Ala163=) c.*174G= (n.*174G=) c.10G= (p.Ala4=) c.235G= (p.Ala79=) c.175G= (p.Ala59=) n.575G= n.568G= | |
| 12 | g.131840637G>T | CA387287009 | MMP17 | c.487G>T (p.Ala163Ser) c.*174G>T (n.*174G>T) c.10G>T (p.Ala4Ser) c.235G>T (p.Ala79Ser) c.175G>T (p.Ala59Ser) n.575G>T n.568G>T | gnomAD v4 |
| 12 | g.131840638C>A | CA387287012 | MMP17 | c.488C>A (p.Ala163Asp) c.*175C>A (n.*175C>A) c.11C>A (p.Ala4Asp) c.236C>A (p.Ala79Asp) c.176C>A (p.Ala59Asp) n.576C>A n.569C>A | |
| 12 | g.131840638C>G | CA387287014 | MMP17 | c.488C>G (p.Ala163Gly) c.*175C>G (n.*175C>G) c.11C>G (p.Ala4Gly) c.236C>G (p.Ala79Gly) c.176C>G (p.Ala59Gly) n.576C>G n.569C>G | |
| 12 | g.131840638C>T | CA387287011 | MMP17 | c.488C>T (p.Ala163Val) c.*175C>T (n.*175C>T) c.11C>T (p.Ala4Val) c.236C>T (p.Ala79Val) c.176C>T (p.Ala59Val) n.576C>T n.569C>T | gnomAD v4 |
| 12 | g.131840638_131840639insA | CA2621949733 | MMP17 | c.488_489insA (p.Leu164ProfsTer?) c.*175_*176insA (n.*175_*176insA) c.11_12insA (p.Leu5ProfsTer?) c.236_237insA (p.Leu80ProfsTer?) c.176_177insA (p.Leu60ProfsTer?) n.576_577insA n.569_570insA | gnomAD v4 |
| 12 | g.131840639C>A | CA482682925 | MMP17 | c.489C>A (p.Ala163=) c.*176C>A (n.*176C>A) c.12C>A (p.Ala4=) c.237C>A (p.Ala79=) c.177C>A (p.Ala59=) n.577C>A n.570C>A | gnomAD v4 |
| 12 | g.131840639C= | CA2072565125 | MMP17 | c.489C= (p.Ala163=) c.*176C= (n.*176C=) c.12C= (p.Ala4=) c.237C= (p.Ala79=) c.177C= (p.Ala59=) n.577C= n.570C= | |
| 12 | g.131840639C>G | CA482682927 | MMP17 | c.489C>G (p.Ala163=) c.*176C>G (n.*176C>G) c.12C>G (p.Ala4=) c.237C>G (p.Ala79=) c.177C>G (p.Ala59=) n.577C>G n.570C>G | |
| 12 | g.131840639C>T | CA482682929 | MMP17 | c.489C>T (p.Ala163=) c.*176C>T (n.*176C>T) c.12C>T (p.Ala4=) c.237C>T (p.Ala79=) c.177C>T (p.Ala59=) n.577C>T n.570C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840640C>A | CA387287022 | MMP17 | c.490C>A (p.Leu164Ile) c.*177C>A (n.*177C>A) c.13C>A (p.Leu5Ile) c.238C>A (p.Leu80Ile) c.178C>A (p.Leu60Ile) n.578C>A n.571C>A | |
| 12 | g.131840640C= | CA2072565126 | MMP17 | c.490C= (p.Leu164=) c.*177C= (n.*177C=) c.13C= (p.Leu5=) c.238C= (p.Leu80=) c.178C= (p.Leu60=) n.578C= n.571C= | |
| 12 | g.131840640C>G | CA387287020 | MMP17 | c.490C>G (p.Leu164Val) c.*177C>G (n.*177C>G) c.13C>G (p.Leu5Val) c.238C>G (p.Leu80Val) c.178C>G (p.Leu60Val) n.578C>G n.571C>G | |
| 12 | g.131840640C>T | CA6881733 | MMP17 | c.490C>T (p.Leu164Phe) c.*177C>T (n.*177C>T) c.13C>T (p.Leu5Phe) c.238C>T (p.Leu80Phe) c.178C>T (p.Leu60Phe) n.578C>T n.571C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840641T>A | CA387287025 | MMP17 | c.491T>A (p.Leu164His) c.*178T>A (n.*178T>A) c.14T>A (p.Leu5His) c.239T>A (p.Leu80His) c.179T>A (p.Leu60His) n.579T>A n.572T>A | |
| 12 | g.131840641T>C | CA387287028 | MMP17 | c.491T>C (p.Leu164Pro) c.*178T>C (n.*178T>C) c.14T>C (p.Leu5Pro) c.239T>C (p.Leu80Pro) c.179T>C (p.Leu60Pro) n.579T>C n.572T>C | |
| 12 | g.131840641T>G | CA387287044 | MMP17 | c.491T>G (p.Leu164Arg) c.*178T>G (n.*178T>G) c.14T>G (p.Leu5Arg) c.239T>G (p.Leu80Arg) c.179T>G (p.Leu60Arg) n.579T>G n.572T>G | |
| 12 | g.131840642C>A | CA482682940 | MMP17 | c.492C>A (p.Leu164=) c.*179C>A (n.*179C>A) c.15C>A (p.Leu5=) c.240C>A (p.Leu80=) c.180C>A (p.Leu60=) n.580C>A n.573C>A | |
| 12 | g.131840642C>G | CA482682941 | MMP17 | c.492C>G (p.Leu164=) c.*179C>G (n.*179C>G) c.15C>G (p.Leu5=) c.240C>G (p.Leu80=) c.180C>G (p.Leu60=) n.580C>G n.573C>G | dbSNP |
| 12 | g.131840642C>T | CA482682943 | MMP17 | c.492C>T (p.Leu164=) c.*179C>T (n.*179C>T) c.15C>T (p.Leu5=) c.240C>T (p.Leu80=) c.180C>T (p.Leu60=) n.580C>T n.573C>T | gnomAD v4 |
| 12 | g.131840643A= | CA2072565127 | MMP17 | c.493A= (p.Lys165=) c.*180A= (n.*180A=) c.16A= (p.Lys6=) c.241A= (p.Lys81=) c.181A= (p.Lys61=) n.581A= n.574A= | |
| 12 | g.131840643A>C | CA387287047 | MMP17 | c.493A>C (p.Lys165Gln) c.*180A>C (n.*180A>C) c.16A>C (p.Lys6Gln) c.241A>C (p.Lys81Gln) c.181A>C (p.Lys61Gln) n.581A>C n.574A>C | dbSNP |
| 12 | g.131840643A>G | CA387287049 | MMP17 | c.493A>G (p.Lys165Glu) c.*180A>G (n.*180A>G) c.16A>G (p.Lys6Glu) c.241A>G (p.Lys81Glu) c.181A>G (p.Lys61Glu) n.581A>G n.574A>G | gnomAD v4 |
| 12 | g.131840643A>T | CA387287051 | MMP17 | c.493A>T (p.Lys165Ter) c.*180A>T (n.*180A>T) c.16A>T (p.Lys6Ter) c.241A>T (p.Lys81Ter) c.181A>T (p.Lys61Ter) n.581A>T n.574A>T | |
| 12 | g.131840644A>C | CA387287052 | MMP17 | c.494A>C (p.Lys165Thr) c.*181A>C (n.*181A>C) c.17A>C (p.Lys6Thr) c.242A>C (p.Lys81Thr) c.182A>C (p.Lys61Thr) n.582A>C n.575A>C | |
| 12 | g.131840644A>G | CA387287054 | MMP17 | c.494A>G (p.Lys165Arg) c.*181A>G (n.*181A>G) c.17A>G (p.Lys6Arg) c.242A>G (p.Lys81Arg) c.182A>G (p.Lys61Arg) n.582A>G n.575A>G | |
| 12 | g.131840644A>T | CA387287057 | MMP17 | c.494A>T (p.Lys165Met) c.*181A>T (n.*181A>T) c.17A>T (p.Lys6Met) c.242A>T (p.Lys81Met) c.182A>T (p.Lys61Met) n.582A>T n.575A>T | |
| 12 | g.131840645G>A | CA482682954 | MMP17 | c.495G>A (p.Lys165=) c.*182G>A (n.*182G>A) c.18G>A (p.Lys6=) c.243G>A (p.Lys81=) c.183G>A (p.Lys61=) n.583G>A n.576G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.131840645G>C | CA387287058 | MMP17 | c.495G>C (p.Lys165Asn) c.*182G>C (n.*182G>C) c.18G>C (p.Lys6Asn) c.243G>C (p.Lys81Asn) c.183G>C (p.Lys61Asn) n.583G>C n.576G>C | |
| 12 | g.131840645G= | CA2072565131 | MMP17 | c.495G= (p.Lys165=) c.*182G= (n.*182G=) c.18G= (p.Lys6=) c.243G= (p.Lys81=) c.183G= (p.Lys61=) n.583G= n.576G= | |
| 12 | g.131840645G>T | CA387287059 | MMP17 | c.495G>T (p.Lys165Asn) c.*182G>T (n.*182G>T) c.18G>T (p.Lys6Asn) c.243G>T (p.Lys81Asn) c.183G>T (p.Lys61Asn) n.583G>T n.576G>T | gnomAD v4 |
| 12 | g.131840646G>A | CA6881734 | MMP17 | c.496G>A (p.Val166Ile) c.*183G>A (n.*183G>A) c.19G>A (p.Val7Ile) c.244G>A (p.Val82Ile) c.184G>A (p.Val62Ile) n.584G>A n.577G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840646G>C | CA387287060 | MMP17 | c.496G>C (p.Val166Leu) c.*183G>C (n.*183G>C) c.19G>C (p.Val7Leu) c.244G>C (p.Val82Leu) c.184G>C (p.Val62Leu) n.584G>C n.577G>C | |
| 12 | g.131840646G= | CA2072565132 | MMP17 | c.496G= (p.Val166=) c.*183G= (n.*183G=) c.19G= (p.Val7=) c.244G= (p.Val82=) c.184G= (p.Val62=) n.584G= n.577G= | |
| 12 | g.131840646G>T | CA387287062 | MMP17 | c.496G>T (p.Val166Phe) c.*183G>T (n.*183G>T) c.19G>T (p.Val7Phe) c.244G>T (p.Val82Phe) c.184G>T (p.Val62Phe) n.584G>T n.577G>T | gnomAD v4 |
| 12 | g.131840647T>A | CA387287069 | MMP17 | c.497T>A (p.Val166Asp) c.*184T>A (n.*184T>A) c.20T>A (p.Val7Asp) c.245T>A (p.Val82Asp) c.185T>A (p.Val62Asp) n.585T>A n.578T>A | |
| 12 | g.131840647T>C | CA387287071 | MMP17 | c.497T>C (p.Val166Ala) c.*184T>C (n.*184T>C) c.20T>C (p.Val7Ala) c.245T>C (p.Val82Ala) c.185T>C (p.Val62Ala) n.585T>C n.578T>C | |
| 12 | g.131840647T>G | CA387287073 | MMP17 | c.497T>G (p.Val166Gly) c.*184T>G (n.*184T>G) c.20T>G (p.Val7Gly) c.245T>G (p.Val82Gly) c.185T>G (p.Val62Gly) n.585T>G n.578T>G | |
| 12 | g.131840648C>A | CA482682966 | MMP17 | c.498C>A (p.Val166=) c.*185C>A (n.*185C>A) c.21C>A (p.Val7=) c.246C>A (p.Val82=) c.186C>A (p.Val62=) n.586C>A n.579C>A | |
| 12 | g.131840648C>G | CA482682967 | MMP17 | c.498C>G (p.Val166=) c.*185C>G (n.*185C>G) c.21C>G (p.Val7=) c.246C>G (p.Val82=) c.186C>G (p.Val62=) n.586C>G n.579C>G | |
| 12 | g.131840648C>T | CA482682969 | MMP17 | c.498C>T (p.Val166=) c.*185C>T (n.*185C>T) c.21C>T (p.Val7=) c.246C>T (p.Val82=) c.186C>T (p.Val62=) n.586C>T n.579C>T | |
| 12 | g.131840649T>A | CA387287075 | MMP17 | c.499T>A (p.Trp167Arg) c.*186T>A (n.*186T>A) c.22T>A (p.Trp8Arg) c.247T>A (p.Trp83Arg) c.187T>A (p.Trp63Arg) n.587T>A n.580T>A | |
| 12 | g.131840649T>C | CA387287080 | MMP17 | c.499T>C (p.Trp167Arg) c.*186T>C (n.*186T>C) c.22T>C (p.Trp8Arg) c.247T>C (p.Trp83Arg) c.187T>C (p.Trp63Arg) n.587T>C n.580T>C | |
| 12 | g.131840649T>G | CA387287086 | MMP17 | c.499T>G (p.Trp167Gly) c.*186T>G (n.*186T>G) c.22T>G (p.Trp8Gly) c.247T>G (p.Trp83Gly) c.187T>G (p.Trp63Gly) n.587T>G n.580T>G | |
| 12 | g.131840650G>A | CA387287088 | MMP17 | c.500G>A (p.Trp167Ter) c.*187G>A (n.*187G>A) c.23G>A (p.Trp8Ter) c.248G>A (p.Trp83Ter) c.188G>A (p.Trp63Ter) n.588G>A n.581G>A | gnomAD v4 |
| 12 | g.131840650G>C | CA387287090 | MMP17 | c.500G>C (p.Trp167Ser) c.*187G>C (n.*187G>C) c.23G>C (p.Trp8Ser) c.248G>C (p.Trp83Ser) c.188G>C (p.Trp63Ser) n.588G>C n.581G>C | |
| 12 | g.131840650G>T | CA387287091 | MMP17 | c.500G>T (p.Trp167Leu) c.*187G>T (n.*187G>T) c.23G>T (p.Trp8Leu) c.248G>T (p.Trp83Leu) c.188G>T (p.Trp63Leu) n.588G>T n.581G>T | gnomAD v4 |
| 12 | g.131840651G>A | CA387287092 | MMP17 | c.501G>A (p.Trp167Ter) c.*188G>A (n.*188G>A) c.24G>A (p.Trp8Ter) c.249G>A (p.Trp83Ter) c.189G>A (p.Trp63Ter) n.589G>A n.582G>A | |
| 12 | g.131840651G>C | CA387287093 | MMP17 | c.501G>C (p.Trp167Cys) c.*188G>C (n.*188G>C) c.24G>C (p.Trp8Cys) c.249G>C (p.Trp83Cys) c.189G>C (p.Trp63Cys) n.589G>C n.582G>C | |
| 12 | g.131840651G= | CA2072565133 | MMP17 | c.501G= (p.Trp167=) c.*188G= (n.*188G=) c.24G= (p.Trp8=) c.249G= (p.Trp83=) c.189G= (p.Trp63=) n.589G= n.582G= | |
| 12 | g.131840651G>T | CA387287094 | MMP17 | c.501G>T (p.Trp167Cys) c.*188G>T (n.*188G>T) c.24G>T (p.Trp8Cys) c.249G>T (p.Trp83Cys) c.189G>T (p.Trp63Cys) n.589G>T n.582G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840652A>C | CA387287100 | MMP17 | c.502A>C (p.Ser168Arg) c.*189A>C (n.*189A>C) c.25A>C (p.Ser9Arg) c.250A>C (p.Ser84Arg) c.190A>C (p.Ser64Arg) n.590A>C n.583A>C | |
| 12 | g.131840652A>G | CA387287098 | MMP17 | c.502A>G (p.Ser168Gly) c.*189A>G (n.*189A>G) c.25A>G (p.Ser9Gly) c.250A>G (p.Ser84Gly) c.190A>G (p.Ser64Gly) n.590A>G n.583A>G | COSMIC COSMIC |
| 12 | g.131840652A>T | CA387287096 | MMP17 | c.502A>T (p.Ser168Cys) c.*189A>T (n.*189A>T) c.25A>T (p.Ser9Cys) c.250A>T (p.Ser84Cys) c.190A>T (p.Ser64Cys) n.590A>T n.583A>T | |
| 12 | g.131840653G>A | CA387287106 | MMP17 | c.503G>A (p.Ser168Asn) c.*190G>A (n.*190G>A) c.26G>A (p.Ser9Asn) c.251G>A (p.Ser84Asn) c.191G>A (p.Ser64Asn) n.591G>A n.584G>A | |
| 12 | g.131840653G>C | CA387287102 | MMP17 | c.503G>C (p.Ser168Thr) c.*190G>C (n.*190G>C) c.26G>C (p.Ser9Thr) c.251G>C (p.Ser84Thr) c.191G>C (p.Ser64Thr) n.591G>C n.584G>C | |
| 12 | g.131840653G>T | CA387287105 | MMP17 | c.503G>T (p.Ser168Ile) c.*190G>T (n.*190G>T) c.26G>T (p.Ser9Ile) c.251G>T (p.Ser84Ile) c.191G>T (p.Ser64Ile) n.591G>T n.584G>T | gnomAD v4 |
| 12 | g.131840654C>A | CA387287108 | MMP17 | c.504C>A (p.Ser168Arg) c.*191C>A (n.*191C>A) c.27C>A (p.Ser9Arg) c.252C>A (p.Ser84Arg) c.192C>A (p.Ser64Arg) n.592C>A n.585C>A | dbSNP COSMIC |
| 12 | g.131840654C= | CA2072565134 | MMP17 | c.504C= (p.Ser168=) c.*191C= (n.*191C=) c.27C= (p.Ser9=) c.252C= (p.Ser84=) c.192C= (p.Ser64=) n.592C= n.585C= | |
| 12 | g.131840654C>G | CA387287109 | MMP17 | c.504C>G (p.Ser168Arg) c.*191C>G (n.*191C>G) c.27C>G (p.Ser9Arg) c.252C>G (p.Ser84Arg) c.192C>G (p.Ser64Arg) n.592C>G n.585C>G | |
| 12 | g.131840654C>T | CA482682994 | MMP17 | c.504C>T (p.Ser168=) c.*191C>T (n.*191C>T) c.27C>T (p.Ser9=) c.252C>T (p.Ser84=) c.192C>T (p.Ser64=) n.592C>T n.585C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840655G>A | CA6881735 | MMP17 | c.505G>A (p.Asp169Asn) c.*192G>A (n.*192G>A) c.28G>A (p.Asp10Asn) c.253G>A (p.Asp85Asn) c.193G>A (p.Asp65Asn) n.593G>A n.586G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840655G>C | CA387287112 | MMP17 | c.505G>C (p.Asp169His) c.*192G>C (n.*192G>C) c.28G>C (p.Asp10His) c.253G>C (p.Asp85His) c.193G>C (p.Asp65His) n.593G>C n.586G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840655G= | CA2072565135 | MMP17 | c.505G= (p.Asp169=) c.*192G= (n.*192G=) c.28G= (p.Asp10=) c.253G= (p.Asp85=) c.193G= (p.Asp65=) n.593G= n.586G= | |
| 12 | g.131840655G>T | CA387287114 | MMP17 | c.505G>T (p.Asp169Tyr) c.*192G>T (n.*192G>T) c.28G>T (p.Asp10Tyr) c.253G>T (p.Asp85Tyr) c.193G>T (p.Asp65Tyr) n.593G>T n.586G>T | gnomAD v4 |
| 12 | g.131840656A= | CA2072565138 | MMP17 | c.506A= (p.Asp169=) c.*193A= (n.*193A=) c.29A= (p.Asp10=) c.254A= (p.Asp85=) c.194A= (p.Asp65=) n.594A= n.587A= | |
| 12 | g.131840656A>C | CA387287116 | MMP17 | c.506A>C (p.Asp169Ala) c.*193A>C (n.*193A>C) c.29A>C (p.Asp10Ala) c.254A>C (p.Asp85Ala) c.194A>C (p.Asp65Ala) n.594A>C n.587A>C | |
| 12 | g.131840656A>G | CA6881736 | MMP17 | c.506A>G (p.Asp169Gly) c.*193A>G (n.*193A>G) c.29A>G (p.Asp10Gly) c.254A>G (p.Asp85Gly) c.194A>G (p.Asp65Gly) n.594A>G n.587A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840656A>T | CA387287117 | MMP17 | c.506A>T (p.Asp169Val) c.*193A>T (n.*193A>T) c.29A>T (p.Asp10Val) c.254A>T (p.Asp85Val) c.194A>T (p.Asp65Val) n.594A>T n.587A>T | |
| 12 | g.131840657C>A | CA387287118 | MMP17 | c.507C>A (p.Asp169Glu) c.*194C>A (n.*194C>A) c.30C>A (p.Asp10Glu) c.255C>A (p.Asp85Glu) c.195C>A (p.Asp65Glu) n.595C>A n.588C>A | |
| 12 | g.131840657C>G | CA387287120 | MMP17 | c.507C>G (p.Asp169Glu) c.*194C>G (n.*194C>G) c.30C>G (p.Asp10Glu) c.255C>G (p.Asp85Glu) c.195C>G (p.Asp65Glu) n.595C>G n.588C>G | |
| 12 | g.131840657C>T | CA482683005 | MMP17 | c.507C>T (p.Asp169=) c.*194C>T (n.*194C>T) c.30C>T (p.Asp10=) c.255C>T (p.Asp85=) c.195C>T (p.Asp65=) n.595C>T n.588C>T | |
| 12 | g.131840658A= | CA2072565139 | MMP17 | c.508A= (p.Ile170=) c.*195A= (n.*195A=) c.31A= (p.Ile11=) c.256A= (p.Ile86=) c.196A= (p.Ile66=) n.596A= n.589A= | |
| 12 | g.131840658A>C | CA387287126 | MMP17 | c.508A>C (p.Ile170Leu) c.*195A>C (n.*195A>C) c.31A>C (p.Ile11Leu) c.256A>C (p.Ile86Leu) c.196A>C (p.Ile66Leu) n.596A>C n.589A>C | |
| 12 | g.131840658A>G | CA387287128 | MMP17 | c.508A>G (p.Ile170Val) c.*195A>G (n.*195A>G) c.31A>G (p.Ile11Val) c.256A>G (p.Ile86Val) c.196A>G (p.Ile66Val) n.596A>G n.589A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840658A>T | CA387287123 | MMP17 | c.508A>T (p.Ile170Phe) c.*195A>T (n.*195A>T) c.31A>T (p.Ile11Phe) c.256A>T (p.Ile86Phe) c.196A>T (p.Ile66Phe) n.596A>T n.589A>T | |
| 12 | g.131840659T>A | CA387287136 | MMP17 | c.509T>A (p.Ile170Asn) c.*196T>A (n.*196T>A) c.32T>A (p.Ile11Asn) c.257T>A (p.Ile86Asn) c.197T>A (p.Ile66Asn) n.597T>A n.590T>A | gnomAD v4 |
| 12 | g.131840659T>C | CA387287138 | MMP17 | c.509T>C (p.Ile170Thr) c.*196T>C (n.*196T>C) c.32T>C (p.Ile11Thr) c.257T>C (p.Ile86Thr) c.197T>C (p.Ile66Thr) n.597T>C n.590T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840659T>G | CA6881737 | MMP17 | c.509T>G (p.Ile170Ser) c.*196T>G (n.*196T>G) c.32T>G (p.Ile11Ser) c.257T>G (p.Ile86Ser) c.197T>G (p.Ile66Ser) n.597T>G n.590T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840659T= | CA2072565140 | MMP17 | c.509T= (p.Ile170=) c.*196T= (n.*196T=) c.32T= (p.Ile11=) c.257T= (p.Ile86=) c.197T= (p.Ile66=) n.597T= n.590T= | |
| 12 | g.131840660T>A | CA482683017 | MMP17 | c.510T>A (p.Ile170=) c.*197T>A (n.*197T>A) c.33T>A (p.Ile11=) c.258T>A (p.Ile86=) c.198T>A (p.Ile66=) n.598T>A n.591T>A | |
| 12 | g.131840660T>C | CA482683018 | MMP17 | c.510T>C (p.Ile170=) c.*197T>C (n.*197T>C) c.33T>C (p.Ile11=) c.258T>C (p.Ile86=) c.198T>C (p.Ile66=) n.598T>C n.591T>C | dbSNP |
| 12 | g.131840660T>G | CA387287143 | MMP17 | c.510T>G (p.Ile170Met) c.*197T>G (n.*197T>G) c.33T>G (p.Ile11Met) c.258T>G (p.Ile86Met) c.198T>G (p.Ile66Met) n.598T>G n.591T>G | |
| 12 | g.131840660T= | CA2072565142 | MMP17 | c.510T= (p.Ile170=) c.*197T= (n.*197T=) c.33T= (p.Ile11=) c.258T= (p.Ile86=) c.198T= (p.Ile66=) n.598T= n.591T= | |
| 12 | g.131840661G>A | CA387287155 | MMP17 | c.511G>A (p.Ala171Thr) c.*198G>A (n.*198G>A) c.34G>A (p.Ala12Thr) c.259G>A (p.Ala87Thr) c.199G>A (p.Ala67Thr) n.599G>A n.592G>A | gnomAD v4 |
| 12 | g.131840661G>C | CA387287154 | MMP17 | c.511G>C (p.Ala171Pro) c.*198G>C (n.*198G>C) c.34G>C (p.Ala12Pro) c.259G>C (p.Ala87Pro) c.199G>C (p.Ala67Pro) n.599G>C n.592G>C | |
| 12 | g.131840661G>T | CA387287153 | MMP17 | c.511G>T (p.Ala171Ser) c.*198G>T (n.*198G>T) c.34G>T (p.Ala12Ser) c.259G>T (p.Ala87Ser) c.199G>T (p.Ala67Ser) n.599G>T n.592G>T | gnomAD v4 |
| 12 | g.131840662C>A | CA387287157 | MMP17 | c.512C>A (p.Ala171Glu) c.*199C>A (n.*199C>A) c.35C>A (p.Ala12Glu) c.260C>A (p.Ala87Glu) c.200C>A (p.Ala67Glu) n.600C>A n.593C>A | gnomAD v4 |
| 12 | g.131840662C= | CA2072565144 | MMP17 | c.512C= (p.Ala171=) c.*199C= (n.*199C=) c.35C= (p.Ala12=) c.260C= (p.Ala87=) c.200C= (p.Ala67=) n.600C= n.593C= | |
| 12 | g.131840662C>G | CA387287159 | MMP17 | c.512C>G (p.Ala171Gly) c.*199C>G (n.*199C>G) c.35C>G (p.Ala12Gly) c.260C>G (p.Ala87Gly) c.200C>G (p.Ala67Gly) n.600C>G n.593C>G | |
| 12 | g.131840662C>T | CA6881738 | MMP17 | c.512C>T (p.Ala171Val) c.*199C>T (n.*199C>T) c.35C>T (p.Ala12Val) c.260C>T (p.Ala87Val) c.200C>T (p.Ala67Val) n.600C>T n.593C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840663G>A | CA6881739 | MMP17 | c.513G>A (p.Ala171=) c.*200G>A (n.*200G>A) c.36G>A (p.Ala12=) c.261G>A (p.Ala87=) c.201G>A (p.Ala67=) n.601G>A n.594G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840663G>C | CA482683030 | MMP17 | c.513G>C (p.Ala171=) c.*200G>C (n.*200G>C) c.36G>C (p.Ala12=) c.261G>C (p.Ala87=) c.201G>C (p.Ala67=) n.601G>C n.594G>C | |
| 12 | g.131840663G= | CA2072565145 | MMP17 | c.513G= (p.Ala171=) c.*200G= (n.*200G=) c.36G= (p.Ala12=) c.261G= (p.Ala87=) c.201G= (p.Ala67=) n.601G= n.594G= | |
| 12 | g.131840663G>T | CA482683031 | MMP17 | c.513G>T (p.Ala171=) c.*200G>T (n.*200G>T) c.36G>T (p.Ala12=) c.261G>T (p.Ala87=) c.201G>T (p.Ala67=) n.601G>T n.594G>T | gnomAD v4 |
| 12 | g.131840664C>A | CA387287167 | MMP17 | c.514C>A (p.Pro172Thr) c.*201C>A (n.*201C>A) c.37C>A (p.Pro13Thr) c.262C>A (p.Pro88Thr) c.202C>A (p.Pro68Thr) n.602C>A n.595C>A | |
| 12 | g.131840664C= | CA2072565147 | MMP17 | c.514C= (p.Pro172=) c.*201C= (n.*201C=) c.37C= (p.Pro13=) c.262C= (p.Pro88=) c.202C= (p.Pro68=) n.602C= n.595C= | |
| 12 | g.131840664C>G | CA387287169 | MMP17 | c.514C>G (p.Pro172Ala) c.*201C>G (n.*201C>G) c.37C>G (p.Pro13Ala) c.262C>G (p.Pro88Ala) c.202C>G (p.Pro68Ala) n.602C>G n.595C>G | |
| 12 | g.131840664C>T | CA387287171 | MMP17 | c.514C>T (p.Pro172Ser) c.*201C>T (n.*201C>T) c.37C>T (p.Pro13Ser) c.262C>T (p.Pro88Ser) c.202C>T (p.Pro68Ser) n.602C>T n.595C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840665C>A | CA387287174 | MMP17 | c.515C>A (p.Pro172His) c.*202C>A (n.*202C>A) c.38C>A (p.Pro13His) c.263C>A (p.Pro88His) c.203C>A (p.Pro68His) n.603C>A n.596C>A | |
| 12 | g.131840665C>G | CA387287176 | MMP17 | c.515C>G (p.Pro172Arg) c.*202C>G (n.*202C>G) c.38C>G (p.Pro13Arg) c.263C>G (p.Pro88Arg) c.203C>G (p.Pro68Arg) n.603C>G n.596C>G | |
| 12 | g.131840665C>T | CA387287173 | MMP17 | c.515C>T (p.Pro172Leu) c.*202C>T (n.*202C>T) c.38C>T (p.Pro13Leu) c.263C>T (p.Pro88Leu) c.203C>T (p.Pro68Leu) n.603C>T n.596C>T | dbSNP gnomAD v4 |
| 12 | g.131840666C>A | CA482683040 | MMP17 | c.516C>A (p.Pro172=) c.*203C>A (n.*203C>A) c.39C>A (p.Pro13=) c.264C>A (p.Pro88=) c.204C>A (p.Pro68=) n.604C>A n.597C>A | gnomAD v4 |
| 12 | g.131840666C>G | CA482683041 | MMP17 | c.516C>G (p.Pro172=) c.*203C>G (n.*203C>G) c.39C>G (p.Pro13=) c.264C>G (p.Pro88=) c.204C>G (p.Pro68=) n.604C>G n.597C>G | |
| 12 | g.131840666C>T | CA482683038 | MMP17 | c.516C>T (p.Pro172=) c.*203C>T (n.*203C>T) c.39C>T (p.Pro13=) c.264C>T (p.Pro88=) c.204C>T (p.Pro68=) n.604C>T n.597C>T | |
| 12 | g.131840667C>A | CA387287179 | MMP17 | c.517C>A (p.Leu173Met) c.*204C>A (n.*204C>A) c.40C>A (p.Leu14Met) c.265C>A (p.Leu89Met) c.205C>A (p.Leu69Met) n.605C>A n.598C>A | |
| 12 | g.131840667C= | CA2072565151 | MMP17 | c.517C= (p.Leu173=) c.*204C= (n.*204C=) c.40C= (p.Leu14=) c.265C= (p.Leu89=) c.205C= (p.Leu69=) n.605C= n.598C= | |
| 12 | g.131840667C>G | CA387287180 | MMP17 | c.517C>G (p.Leu173Val) c.*204C>G (n.*204C>G) c.40C>G (p.Leu14Val) c.265C>G (p.Leu89Val) c.205C>G (p.Leu69Val) n.605C>G n.598C>G | |
| 12 | g.131840667C>T | CA482683046 | MMP17 | c.517C>T (p.Leu173=) c.*204C>T (n.*204C>T) c.40C>T (p.Leu14=) c.265C>T (p.Leu89=) c.205C>T (p.Leu69=) n.605C>T n.598C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840668T>A | CA387287181 | MMP17 | c.518T>A (p.Leu173Gln) c.*205T>A (n.*205T>A) c.41T>A (p.Leu14Gln) c.266T>A (p.Leu89Gln) c.206T>A (p.Leu69Gln) n.606T>A n.599T>A | |
| 12 | g.131840668T>C | CA387287182 | MMP17 | c.518T>C (p.Leu173Pro) c.*205T>C (n.*205T>C) c.41T>C (p.Leu14Pro) c.266T>C (p.Leu89Pro) c.206T>C (p.Leu69Pro) n.606T>C n.599T>C | gnomAD v4 |
| 12 | g.131840668T>G | CA387287183 | MMP17 | c.518T>G (p.Leu173Arg) c.*205T>G (n.*205T>G) c.41T>G (p.Leu14Arg) c.266T>G (p.Leu89Arg) c.206T>G (p.Leu69Arg) n.606T>G n.599T>G | |
| 12 | g.131840669G>A | CA482683054 | MMP17 | c.519G>A (p.Leu173=) c.*206G>A (n.*206G>A) c.42G>A (p.Leu14=) c.267G>A (p.Leu89=) c.207G>A (p.Leu69=) n.607G>A n.600G>A | |
| 12 | g.131840669G>C | CA482683056 | MMP17 | c.519G>C (p.Leu173=) c.*206G>C (n.*206G>C) c.42G>C (p.Leu14=) c.267G>C (p.Leu89=) c.207G>C (p.Leu69=) n.607G>C n.600G>C | |
| 12 | g.131840669G>T | CA482683057 | MMP17 | c.519G>T (p.Leu173=) c.*206G>T (n.*206G>T) c.42G>T (p.Leu14=) c.267G>T (p.Leu89=) c.207G>T (p.Leu69=) n.607G>T n.600G>T | gnomAD v4 |
| 12 | g.131840670A>C | CA387287186 | MMP17 | c.520A>C (p.Asn174His) c.*207A>C (n.*207A>C) c.43A>C (p.Asn15His) c.268A>C (p.Asn90His) c.208A>C (p.Asn70His) n.608A>C n.601A>C | |
| 12 | g.131840670A>G | CA387287188 | MMP17 | c.520A>G (p.Asn174Asp) c.*207A>G (n.*207A>G) c.43A>G (p.Asn15Asp) c.268A>G (p.Asn90Asp) c.208A>G (p.Asn70Asp) n.608A>G n.601A>G | |
| 12 | g.131840670A>T | CA387287190 | MMP17 | c.520A>T (p.Asn174Tyr) c.*207A>T (n.*207A>T) c.43A>T (p.Asn15Tyr) c.268A>T (p.Asn90Tyr) c.208A>T (p.Asn70Tyr) n.608A>T n.601A>T | |
| 12 | g.131840671A= | CA2072565152 | MMP17 | c.521A= (p.Asn174=) c.*208A= (n.*208A=) c.44A= (p.Asn15=) c.269A= (p.Asn90=) c.209A= (p.Asn70=) n.609A= n.602A= | |
| 12 | g.131840671A>C | CA387287193 | MMP17 | c.521A>C (p.Asn174Thr) c.*208A>C (n.*208A>C) c.44A>C (p.Asn15Thr) c.269A>C (p.Asn90Thr) c.209A>C (p.Asn70Thr) n.609A>C n.602A>C | dbSNP |
| 12 | g.131840671A>G | CA387287196 | MMP17 | c.521A>G (p.Asn174Ser) c.*208A>G (n.*208A>G) c.44A>G (p.Asn15Ser) c.269A>G (p.Asn90Ser) c.209A>G (p.Asn70Ser) n.609A>G n.602A>G | |
| 12 | g.131840671A>T | CA387287198 | MMP17 | c.521A>T (p.Asn174Ile) c.*208A>T (n.*208A>T) c.44A>T (p.Asn15Ile) c.269A>T (p.Asn90Ile) c.209A>T (p.Asn70Ile) n.609A>T n.602A>T | |
| 12 | g.131840672C>A | CA387287205 | MMP17 | c.522C>A (p.Asn174Lys) c.*209C>A (n.*209C>A) c.45C>A (p.Asn15Lys) c.270C>A (p.Asn90Lys) c.210C>A (p.Asn70Lys) n.610C>A n.603C>A | |
| 12 | g.131840672C>G | CA387287206 | MMP17 | c.522C>G (p.Asn174Lys) c.*209C>G (n.*209C>G) c.45C>G (p.Asn15Lys) c.270C>G (p.Asn90Lys) c.210C>G (p.Asn70Lys) n.610C>G n.603C>G | |
| 12 | g.131840672C>T | CA482683070 | MMP17 | c.522C>T (p.Asn174=) c.*209C>T (n.*209C>T) c.45C>T (p.Asn15=) c.270C>T (p.Asn90=) c.210C>T (p.Asn70=) n.610C>T n.603C>T | |
| 12 | g.131840673T>A | CA387287209 | MMP17 | c.523T>A (p.Phe175Ile) c.*210T>A (n.*210T>A) c.46T>A (p.Phe16Ile) c.271T>A (p.Phe91Ile) c.211T>A (p.Phe71Ile) n.611T>A n.604T>A | |
| 12 | g.131840673T>C | CA387287208 | MMP17 | c.523T>C (p.Phe175Leu) c.*210T>C (n.*210T>C) c.46T>C (p.Phe16Leu) c.271T>C (p.Phe91Leu) c.211T>C (p.Phe71Leu) n.611T>C n.604T>C | gnomAD v4 |
| 12 | g.131840673T>G | CA387287207 | MMP17 | c.523T>G (p.Phe175Val) c.*210T>G (n.*210T>G) c.46T>G (p.Phe16Val) c.271T>G (p.Phe91Val) c.211T>G (p.Phe71Val) n.611T>G n.604T>G | |
| 12 | g.131840674T>A | CA387287211 | MMP17 | c.524T>A (p.Phe175Tyr) c.*211T>A (n.*211T>A) c.47T>A (p.Phe16Tyr) c.272T>A (p.Phe91Tyr) c.212T>A (p.Phe71Tyr) n.612T>A n.605T>A | |
| 12 | g.131840674T>C | CA387287213 | MMP17 | c.524T>C (p.Phe175Ser) c.*211T>C (n.*211T>C) c.47T>C (p.Phe16Ser) c.272T>C (p.Phe91Ser) c.212T>C (p.Phe71Ser) n.612T>C n.605T>C | dbSNP |
| 12 | g.131840674T>G | CA387287214 | MMP17 | c.524T>G (p.Phe175Cys) c.*211T>G (n.*211T>G) c.47T>G (p.Phe16Cys) c.272T>G (p.Phe91Cys) c.212T>G (p.Phe71Cys) n.612T>G n.605T>G | |
| 12 | g.131840674T= | CA2072565154 | MMP17 | c.524T= (p.Phe175=) c.*211T= (n.*211T=) c.47T= (p.Phe16=) c.272T= (p.Phe91=) c.212T= (p.Phe71=) n.612T= n.605T= | |
| 12 | g.131840675C>A | CA387287216 | MMP17 | c.525C>A (p.Phe175Leu) c.*212C>A (n.*212C>A) c.48C>A (p.Phe16Leu) c.273C>A (p.Phe91Leu) c.213C>A (p.Phe71Leu) n.613C>A n.606C>A | |
| 12 | g.131840675C>G | CA387287220 | MMP17 | c.525C>G (p.Phe175Leu) c.*212C>G (n.*212C>G) c.48C>G (p.Phe16Leu) c.273C>G (p.Phe91Leu) c.213C>G (p.Phe71Leu) n.613C>G n.606C>G | |
| 12 | g.131840675C>T | CA482683080 | MMP17 | c.525C>T (p.Phe175=) c.*212C>T (n.*212C>T) c.48C>T (p.Phe16=) c.273C>T (p.Phe91=) c.213C>T (p.Phe71=) n.613C>T n.606C>T | |
| 12 | g.131840676del | CA2621949734 | MMP17 | c.526del (p.His176ThrfsTer?) c.*213del (n.*213del) c.49del (p.His17ThrfsTer?) c.274del (p.His92ThrfsTer?) c.214del (p.His72ThrfsTer?) n.614del n.607del | gnomAD v4 |
| 12 | g.131840676C>A | CA387287224 | MMP17 | c.526C>A (p.His176Asn) c.*213C>A (n.*213C>A) c.49C>A (p.His17Asn) c.274C>A (p.His92Asn) c.214C>A (p.His72Asn) n.614C>A n.607C>A | |
| 12 | g.131840676C= | CA2072565155 | MMP17 | c.526C= (p.His176=) c.*213C= (n.*213C=) c.49C= (p.His17=) c.274C= (p.His92=) c.214C= (p.His72=) n.614C= n.607C= | |
| 12 | g.131840676C>G | CA387287226 | MMP17 | c.526C>G (p.His176Asp) c.*213C>G (n.*213C>G) c.49C>G (p.His17Asp) c.274C>G (p.His92Asp) c.214C>G (p.His72Asp) n.614C>G n.607C>G | |
| 12 | g.131840676C>T | CA387287227 | MMP17 | c.526C>T (p.His176Tyr) c.*213C>T (n.*213C>T) c.49C>T (p.His17Tyr) c.274C>T (p.His92Tyr) c.214C>T (p.His72Tyr) n.614C>T n.607C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840677A= | CA2072565159 | MMP17 | c.527A= (p.His176=) c.*214A= (n.*214A=) c.50A= (p.His17=) c.275A= (p.His92=) c.215A= (p.His72=) n.615A= n.608A= | |
| 12 | g.131840677A>C | CA387287233 | MMP17 | c.527A>C (p.His176Pro) c.*214A>C (n.*214A>C) c.50A>C (p.His17Pro) c.275A>C (p.His92Pro) c.215A>C (p.His72Pro) n.615A>C n.608A>C | dbSNP |
| 12 | g.131840677A>G | CA387287234 | MMP17 | c.527A>G (p.His176Arg) c.*214A>G (n.*214A>G) c.50A>G (p.His17Arg) c.275A>G (p.His92Arg) c.215A>G (p.His72Arg) n.615A>G n.608A>G | dbSNP gnomAD v2 |
| 12 | g.131840677A>T | CA387287235 | MMP17 | c.527A>T (p.His176Leu) c.*214A>T (n.*214A>T) c.50A>T (p.His17Leu) c.275A>T (p.His92Leu) c.215A>T (p.His72Leu) n.615A>T n.608A>T | |
| 12 | g.131840678C>A | CA6881741 | MMP17 | c.528C>A (p.His176Gln) c.*215C>A (n.*215C>A) c.51C>A (p.His17Gln) c.276C>A (p.His92Gln) c.216C>A (p.His72Gln) n.616C>A n.609C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.131840678C= | CA2072565161 | MMP17 | c.528C= (p.His176=) c.*215C= (n.*215C=) c.51C= (p.His17=) c.276C= (p.His92=) c.216C= (p.His72=) n.616C= n.609C= | |
| 12 | g.131840678C>G | CA387287236 | MMP17 | c.528C>G (p.His176Gln) c.*215C>G (n.*215C>G) c.51C>G (p.His17Gln) c.276C>G (p.His92Gln) c.216C>G (p.His72Gln) n.616C>G n.609C>G | |
| 12 | g.131840678C>T | CA6881740 | MMP17 | c.528C>T (p.His176=) c.*215C>T (n.*215C>T) c.51C>T (p.His17=) c.276C>T (p.His92=) c.216C>T (p.His72=) n.616C>T n.609C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840679G>A | CA387287245 | MMP17 | c.529G>A (p.Glu177Lys) c.*216G>A (n.*216G>A) c.52G>A (p.Glu18Lys) c.277G>A (p.Glu93Lys) c.217G>A (p.Glu73Lys) n.617G>A n.610G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131840679G>C | CA387287250 | MMP17 | c.529G>C (p.Glu177Gln) c.*216G>C (n.*216G>C) c.52G>C (p.Glu18Gln) c.277G>C (p.Glu93Gln) c.217G>C (p.Glu73Gln) n.617G>C n.610G>C | |
| 12 | g.131840679G= | CA2072565162 | MMP17 | c.529G= (p.Glu177=) c.*216G= (n.*216G=) c.52G= (p.Glu18=) c.277G= (p.Glu93=) c.217G= (p.Glu73=) n.617G= n.610G= | |
| 12 | g.131840679G>T | CA387287241 | MMP17 | c.529G>T (p.Glu177Ter) c.*216G>T (n.*216G>T) c.52G>T (p.Glu18Ter) c.277G>T (p.Glu93Ter) c.217G>T (p.Glu73Ter) n.617G>T n.610G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.131840680A>C | CA387287253 | MMP17 | c.530A>C (p.Glu177Ala) c.*217A>C (n.*217A>C) c.53A>C (p.Glu18Ala) c.278A>C (p.Glu93Ala) c.218A>C (p.Glu73Ala) n.618A>C n.611A>C | |
| 12 | g.131840680A>G | CA387287254 | MMP17 | c.530A>G (p.Glu177Gly) c.*217A>G (n.*217A>G) c.53A>G (p.Glu18Gly) c.278A>G (p.Glu93Gly) c.218A>G (p.Glu73Gly) n.618A>G n.611A>G | |
| 12 | g.131840680A>T | CA387287256 | MMP17 | c.530A>T (p.Glu177Val) c.*217A>T (n.*217A>T) c.53A>T (p.Glu18Val) c.278A>T (p.Glu93Val) c.218A>T (p.Glu73Val) n.618A>T n.611A>T | |
| 12 | g.131840681G>A | CA482683098 | MMP17 | c.531G>A (p.Glu177=) c.*218G>A (n.*218G>A) c.54G>A (p.Glu18=) c.279G>A (p.Glu93=) c.219G>A (p.Glu73=) n.619G>A n.612G>A | |
| 12 | g.131840681G>C | CA6881742 | MMP17 | c.531G>C (p.Glu177Asp) c.*218G>C (n.*218G>C) c.54G>C (p.Glu18Asp) c.279G>C (p.Glu93Asp) c.219G>C (p.Glu73Asp) n.619G>C n.612G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.131840681G= | CA2072565165 | MMP17 | c.531G= (p.Glu177=) c.*218G= (n.*218G=) c.54G= (p.Glu18=) c.279G= (p.Glu93=) c.219G= (p.Glu73=) n.619G= n.612G= | |
| 12 | g.131840681G>T | CA387287259 | MMP17 | c.531G>T (p.Glu177Asp) c.*218G>T (n.*218G>T) c.54G>T (p.Glu18Asp) c.279G>T (p.Glu93Asp) c.219G>T (p.Glu73Asp) n.619G>T n.612G>T | gnomAD v4 COSMIC |
| 12 | g.131840682G>A | CA6881743 | MMP17 | c.532G>A (p.Val178Met) c.*219G>A (n.*219G>A) c.55G>A (p.Val19Met) c.280G>A (p.Val94Met) c.220G>A (p.Val74Met) n.620G>A n.613G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.131840682G>C | CA387287261 | MMP17 | c.532G>C (p.Val178Leu) c.*219G>C (n.*219G>C) c.55G>C (p.Val19Leu) c.280G>C (p.Val94Leu) c.220G>C (p.Val74Leu) n.620G>C n.613G>C | |
| 12 | g.131840682G= | CA2072565167 | MMP17 | c.532G= (p.Val178=) c.*219G= (n.*219G=) c.55G= (p.Val19=) c.280G= (p.Val94=) c.220G= (p.Val74=) n.620G= n.613G= | |
| 12 | g.131840682G>T | CA387287262 | MMP17 | c.532G>T (p.Val178Leu) c.*219G>T (n.*219G>T) c.55G>T (p.Val19Leu) c.280G>T (p.Val94Leu) c.220G>T (p.Val74Leu) n.620G>T n.613G>T | gnomAD v4 |
| 12 | g.131840683T>A | CA387287264 | MMP17 | c.533T>A (p.Val178Glu) c.*220T>A (n.*220T>A) c.56T>A (p.Val19Glu) c.281T>A (p.Val94Glu) c.221T>A (p.Val74Glu) n.621T>A n.614T>A | |
| 12 | g.131840683T>C | CA6881744 | MMP17 | c.533T>C (p.Val178Ala) c.*220T>C (n.*220T>C) c.56T>C (p.Val19Ala) c.281T>C (p.Val94Ala) c.221T>C (p.Val74Ala) n.621T>C n.614T>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.131840683T>G | CA387287267 | MMP17 | c.533T>G (p.Val178Gly) c.*220T>G (n.*220T>G) c.56T>G (p.Val19Gly) c.281T>G (p.Val94Gly) c.221T>G (p.Val74Gly) n.621T>G n.614T>G | |
| 12 | g.131840683T= | CA2072565169 | MMP17 | c.533T= (p.Val178=) c.*220T= (n.*220T=) c.56T= (p.Val19=) c.281T= (p.Val94=) c.221T= (p.Val74=) n.621T= n.614T= | |
| 12 | g.131840684G>A | CA482683110 | MMP17 | c.534G>A (p.Val178=) c.*221G>A (n.*221G>A) c.57G>A (p.Val19=) c.282G>A (p.Val94=) c.222G>A (p.Val74=) n.622G>A n.615G>A | |
| 12 | g.131840684G>C | CA482683112 | MMP17 | c.534G>C (p.Val178=) c.*221G>C (n.*221G>C) c.57G>C (p.Val19=) c.282G>C (p.Val94=) c.222G>C (p.Val74=) n.622G>C n.615G>C | |
| 12 | g.131840684G>T | CA482683114 | MMP17 | c.534G>T (p.Val178=) c.*221G>T (n.*221G>T) c.57G>T (p.Val19=) c.282G>T (p.Val94=) c.222G>T (p.Val74=) n.622G>T n.615G>T | gnomAD v4 |
| 12 | g.131840685G>A | CA246118825 | MMP17 | c.535G>A (p.Ala179Thr) c.*222G>A (n.*222G>A) c.58G>A (p.Ala20Thr) c.283G>A (p.Ala95Thr) c.223G>A (p.Ala75Thr) n.623G>A n.616G>A | dbSNP gnomAD v4 |
| 12 | g.131840685G>C | CA387287275 | MMP17 | c.535G>C (p.Ala179Pro) c.*222G>C (n.*222G>C) c.58G>C (p.Ala20Pro) c.283G>C (p.Ala95Pro) c.223G>C (p.Ala75Pro) n.623G>C n.616G>C | |
| 12 | g.131840685G= | CA2072565171 | MMP17 | c.535G= (p.Ala179=) c.*222G= (n.*222G=) c.58G= (p.Ala20=) c.283G= (p.Ala95=) c.223G= (p.Ala75=) n.623G= n.616G= | |
| 12 | g.131840685G>T | CA387287273 | MMP17 | c.535G>T (p.Ala179Ser) c.*222G>T (n.*222G>T) c.58G>T (p.Ala20Ser) c.283G>T (p.Ala95Ser) c.223G>T (p.Ala75Ser) n.623G>T n.616G>T | dbSNP |
| 12 | g.131840686C>A | CA387287283 | MMP17 | c.536C>A (p.Ala179Glu) c.*223C>A (n.*223C>A) c.59C>A (p.Ala20Glu) c.284C>A (p.Ala95Glu) c.224C>A (p.Ala75Glu) n.624C>A n.617C>A | gnomAD v4 |
| 12 | g.131840686C= | CA2072565173 | MMP17 | c.536C= (p.Ala179=) c.*223C= (n.*223C=) c.59C= (p.Ala20=) c.284C= (p.Ala95=) c.224C= (p.Ala75=) n.624C= n.617C= | |
| 12 | g.131840686C>G | CA387287285 | MMP17 | c.536C>G (p.Ala179Gly) c.*223C>G (n.*223C>G) c.59C>G (p.Ala20Gly) c.284C>G (p.Ala95Gly) c.224C>G (p.Ala75Gly) n.624C>G n.617C>G | |
| 12 | g.131840686C>T | CA387287287 | MMP17 | c.536C>T (p.Ala179Val) c.*223C>T (n.*223C>T) c.59C>T (p.Ala20Val) c.284C>T (p.Ala95Val) c.224C>T (p.Ala75Val) n.624C>T n.617C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840687G>A | CA6881745 | MMP17 | c.537G>A (p.Ala179=) c.*224G>A (n.*224G>A) c.60G>A (p.Ala20=) c.285G>A (p.Ala95=) c.225G>A (p.Ala75=) n.625G>A n.618G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840687G>C | CA482683127 | MMP17 | c.537G>C (p.Ala179=) c.*224G>C (n.*224G>C) c.60G>C (p.Ala20=) c.285G>C (p.Ala95=) c.225G>C (p.Ala75=) n.625G>C n.618G>C | |
| 12 | g.131840687G= | CA2072565175 | MMP17 | c.537G= (p.Ala179=) c.*224G= (n.*224G=) c.60G= (p.Ala20=) c.285G= (p.Ala95=) c.225G= (p.Ala75=) n.625G= n.618G= | |
| 12 | g.131840687G>T | CA482683124 | MMP17 | c.537G>T (p.Ala179=) c.*224G>T (n.*224G>T) c.60G>T (p.Ala20=) c.285G>T (p.Ala95=) c.225G>T (p.Ala75=) n.625G>T n.618G>T | gnomAD v4 |
| 12 | g.131840688G>A | CA387287296 | MMP17 | c.538G>A (p.Gly180Ser) c.*225G>A (n.*225G>A) c.61G>A (p.Gly21Ser) c.286G>A (p.Gly96Ser) c.226G>A (p.Gly76Ser) n.626G>A n.619G>A | gnomAD v4 |
| 12 | g.131840688G>C | CA387287298 | MMP17 | c.538G>C (p.Gly180Arg) c.*225G>C (n.*225G>C) c.61G>C (p.Gly21Arg) c.286G>C (p.Gly96Arg) c.226G>C (p.Gly76Arg) n.626G>C n.619G>C | |
| 12 | g.131840688G>T | CA387287300 | MMP17 | c.538G>T (p.Gly180Cys) c.*225G>T (n.*225G>T) c.61G>T (p.Gly21Cys) c.286G>T (p.Gly96Cys) c.226G>T (p.Gly76Cys) n.626G>T n.619G>T | gnomAD v4 |
| 12 | g.131840689G>A | CA387287301 | MMP17 | c.539G>A (p.Gly180Asp) c.*226G>A (n.*226G>A) c.62G>A (p.Gly21Asp) c.287G>A (p.Gly96Asp) c.227G>A (p.Gly76Asp) n.627G>A n.620G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.131840689G>C | CA387287302 | MMP17 | c.539G>C (p.Gly180Ala) c.*226G>C (n.*226G>C) c.62G>C (p.Gly21Ala) c.287G>C (p.Gly96Ala) c.227G>C (p.Gly76Ala) n.627G>C n.620G>C | |
| 12 | g.131840689G= | CA2072565178 | MMP17 | c.539G= (p.Gly180=) c.*226G= (n.*226G=) c.62G= (p.Gly21=) c.287G= (p.Gly96=) c.227G= (p.Gly76=) n.627G= n.620G= | |
| 12 | g.131840689G>T | CA6881746 | MMP17 | c.539G>T (p.Gly180Val) c.*226G>T (n.*226G>T) c.62G>T (p.Gly21Val) c.287G>T (p.Gly96Val) c.227G>T (p.Gly76Val) n.627G>T n.620G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.131840690C>A | CA482683137 | MMP17 | c.540C>A (p.Gly180=) c.*227C>A (n.*227C>A) c.63C>A (p.Gly21=) c.288C>A (p.Gly96=) c.228C>A (p.Gly76=) n.628C>A n.621C>A | |
| 12 | g.131840690C>G | CA482683139 | MMP17 | c.540C>G (p.Gly180=) c.*227C>G (n.*227C>G) c.63C>G (p.Gly21=) c.288C>G (p.Gly96=) c.228C>G (p.Gly76=) n.628C>G n.621C>G | |
| 12 | g.131840690C>T | CA482683141 | MMP17 | c.540C>T (p.Gly180=) c.*227C>T (n.*227C>T) c.63C>T (p.Gly21=) c.288C>T (p.Gly96=) c.228C>T (p.Gly76=) n.628C>T n.621C>T | gnomAD v4 |