UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131858667G>A | CA365665868 | ENPP1 | c.716-1G>A (n.716-1G>A) c.333-1G>A c.207-1G>A | gnomAD v4 |
| 6 | g.131858667G>C | CA365665871 | ENPP1 | c.716-1G>C (n.716-1G>C) c.333-1G>C c.207-1G>C | |
| 6 | g.131858667G>T | CA365665875 | ENPP1 | c.716-1G>T (n.716-1G>T) c.333-1G>T c.207-1G>T | |
| 6 | g.131858668A>C | CA365665880 | ENPP1 | c.716A>C (p.Lys239Thr) c.333A>C c.207A>C | |
| 6 | g.131858668A>G | CA365665883 | ENPP1 | c.716A>G (p.Lys239Arg) c.333A>G c.207A>G | |
| 6 | g.131858668A>T | CA365665885 | ENPP1 | c.716A>T (p.Lys239Ile) c.333A>T c.207A>T | |
| 6 | g.131858672del | CA2578742841 | ENPP1 | c.720del (p.Lys240AsnfsTer9) c.337del c.211del | gnomAD v4 |
| 6 | g.131858669A>C | CA365665888 | ENPP1 | c.717A>C (p.Lys239Asn) c.334A>C c.208A>C | |
| 6 | g.131858669A>G | CA452155188 | ENPP1 | c.717A>G (p.Lys239=) c.334A>G c.208A>G | |
| 6 | g.131858669A>T | CA365665890 | ENPP1 | c.717A>T (p.Lys239Asn) c.334A>T c.208A>T | |
| 6 | g.131858670A>C | CA365665896 | ENPP1 | c.718A>C (p.Lys240Gln) c.335A>C c.209A>C | |
| 6 | g.131858670A>G | CA365665899 | ENPP1 | c.718A>G (p.Lys240Glu) c.335A>G c.209A>G | |
| 6 | g.131858670A>T | CA365665901 | ENPP1 | c.718A>T (p.Lys240Ter) c.335A>T c.209A>T | |
| 6 | g.131858671A= | CA1664257164 | ENPP1 | c.719A= (p.Lys240=) c.336A= c.210A= | |
| 6 | g.131858671A>C | CA365665909 | ENPP1 | c.719A>C (p.Lys240Thr) c.336A>C c.210A>C | |
| 6 | g.131858671A>G | CA4001990 | ENPP1 | c.719A>G (p.Lys240Arg) c.336A>G c.210A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131858671A>T | CA365665906 | ENPP1 | c.719A>T (p.Lys240Ile) c.336A>T c.210A>T | |
| 6 | g.131858672A>C | CA365665912 | ENPP1 | c.720A>C (p.Lys240Asn) c.337A>C c.211A>C | |
| 6 | g.131858672A>G | CA452155189 | ENPP1 | c.720A>G (p.Lys240=) c.337A>G c.211A>G | |
| 6 | g.131858672A>T | CA365665914 | ENPP1 | c.720A>T (p.Lys240Asn) c.337A>T c.211A>T | |
| 6 | g.131858673T>A | CA365665917 | ENPP1 | c.721T>A (p.Cys241Ser) c.338T>A c.212T>A | |
| 6 | g.131858673T>C | CA365665923 | ENPP1 | c.721T>C (p.Cys241Arg) c.338T>C c.212T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131858673T>G | CA365665920 | ENPP1 | c.721T>G (p.Cys241Gly) c.338T>G c.212T>G | |
| 6 | g.131858673T= | CA1664257166 | ENPP1 | c.721T= (p.Cys241=) c.338T= c.212T= | |
| 6 | g.131858674G>A | CA365665926 | ENPP1 | c.722G>A (p.Cys241Tyr) c.339G>A c.213G>A | |
| 6 | g.131858674G>C | CA365665929 | ENPP1 | c.722G>C (p.Cys241Ser) c.339G>C c.213G>C | |
| 6 | g.131858674G>T | CA365665932 | ENPP1 | c.722G>T (p.Cys241Phe) c.339G>T c.213G>T | |
| 6 | g.131858675T>A | CA365665934 | ENPP1 | c.723T>A (p.Cys241Ter) c.340T>A c.214T>A | |
| 6 | g.131858675T>C | CA452155190 | ENPP1 | c.723T>C (p.Cys241=) c.340T>C c.214T>C | |
| 6 | g.131858675T>G | CA365665937 | ENPP1 | c.723T>G (p.Cys241Trp) c.340T>G c.214T>G | |
| 6 | g.131858676G>A | CA365665945 | ENPP1 | c.724G>A (p.Gly242Arg) c.341G>A c.215G>A | |
| 6 | g.131858676G>C | CA365665943 | ENPP1 | c.724G>C (p.Gly242Arg) c.341G>C c.215G>C | |
| 6 | g.131858676G>T | CA365665942 | ENPP1 | c.724G>T (p.Gly242Ter) c.341G>T c.215G>T | |
| 6 | g.131858677G>A | CA365665949 | ENPP1 | c.725G>A (p.Gly242Glu) c.342G>A c.216G>A | |
| 6 | g.131858677G>C | CA365665950 | ENPP1 | c.725G>C (p.Gly242Ala) c.342G>C c.216G>C | |
| 6 | g.131858677G>T | CA365665951 | ENPP1 | c.725G>T (p.Gly242Val) c.342G>T c.216G>T | |
| 6 | g.131858678A>C | CA452155191 | ENPP1 | c.726A>C (p.Gly242=) c.343A>C c.217A>C | |
| 6 | g.131858678A>G | CA452155193 | ENPP1 | c.726A>G (p.Gly242=) c.343A>G c.217A>G | gnomAD v4 |
| 6 | g.131858678A>T | CA452155192 | ENPP1 | c.726A>T (p.Gly242=) c.343A>T c.217A>T | |
| 6 | g.131858679A>C | CA365665952 | ENPP1 | c.727A>C (p.Thr243Pro) c.344A>C c.218A>C | gnomAD v4 |
| 6 | g.131858679A>G | CA365665953 | ENPP1 | c.727A>G (p.Thr243Ala) c.344A>G c.218A>G | |
| 6 | g.131858679A>T | CA365665955 | ENPP1 | c.727A>T (p.Thr243Ser) c.344A>T c.218A>T | |
| 6 | g.131858680C>A | CA365665963 | ENPP1 | c.728C>A (p.Thr243Lys) c.345C>A c.219C>A | gnomAD v4 |
| 6 | g.131858680C>G | CA365665959 | ENPP1 | c.728C>G (p.Thr243Arg) c.345C>G c.219C>G | |
| 6 | g.131858680C>T | CA365665961 | ENPP1 | c.728C>T (p.Thr243Ile) c.345C>T c.219C>T | |
| 6 | g.131858681A>C | CA452155196 | ENPP1 | c.729A>C (p.Thr243=) c.346A>C c.220A>C | |
| 6 | g.131858681A>G | CA452155195 | ENPP1 | c.729A>G (p.Thr243=) c.346A>G c.220A>G | |
| 6 | g.131858681A>T | CA452155194 | ENPP1 | c.729A>T (p.Thr243=) c.346A>T c.220A>T | |
| 6 | g.131858682T>A | CA365665968 | ENPP1 | c.730T>A (p.Tyr244Asn) c.347T>A c.221T>A | |
| 6 | g.131858682T>C | CA365665971 | ENPP1 | c.730T>C (p.Tyr244His) c.347T>C c.221T>C | gnomAD v4 |
| 6 | g.131858682T>G | CA365665973 | ENPP1 | c.730T>G (p.Tyr244Asp) c.347T>G c.221T>G | gnomAD v4 |
| 6 | g.131858683A= | CA1664257169 | ENPP1 | c.731A= (p.Tyr244=) c.348A= c.222A= | |
| 6 | g.131858683A>C | CA365665977 | ENPP1 | c.731A>C (p.Tyr244Ser) c.348A>C c.222A>C | |
| 6 | g.131858683A>G | CA365665979 | ENPP1 | c.731A>G (p.Tyr244Cys) c.348A>G c.222A>G | dbSNP |
| 6 | g.131858683A>T | CA365665982 | ENPP1 | c.731A>T (p.Tyr244Phe) c.348A>T c.222A>T | |
| 6 | g.131858684T>A | CA365665985 | ENPP1 | c.732T>A (p.Tyr244Ter) c.349T>A c.223T>A | |
| 6 | g.131858684T>C | CA4001991 | ENPP1 | c.732T>C (p.Tyr244=) c.349T>C c.223T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131858684T>G | CA365665989 | ENPP1 | c.732T>G (p.Tyr244Ter) c.349T>G c.223T>G | |
| 6 | g.131858684T= | CA1664257173 | ENPP1 | c.732T= (p.Tyr244=) c.349T= c.223T= | |
| 6 | g.131858685A= | CA1664257175 | ENPP1 | c.733A= (p.Thr245=) c.350A= c.224A= | |
| 6 | g.131858685A>C | CA365665992 | ENPP1 | c.733A>C (p.Thr245Pro) c.350A>C c.224A>C | |
| 6 | g.131858685A>G | CA365665997 | ENPP1 | c.733A>G (p.Thr245Ala) c.350A>G c.224A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131858685A>T | CA4001992 | ENPP1 | c.733A>T (p.Thr245Ser) c.350A>T c.224A>T | dbSNP ExAC gnomAD v4 |
| 6 | g.131858686C>A | CA365666000 | ENPP1 | c.734C>A (p.Thr245Asn) c.351C>A c.225C>A | gnomAD v4 |
| 6 | g.131858686C>G | CA365666003 | ENPP1 | c.734C>G (p.Thr245Ser) c.351C>G c.225C>G | |
| 6 | g.131858686C>T | CA365666002 | ENPP1 | c.734C>T (p.Thr245Ile) c.351C>T c.225C>T | |
| 6 | g.131858687T>A | CA452155198 | ENPP1 | c.735T>A (p.Thr245=) c.352T>A c.226T>A | |
| 6 | g.131858687T>C | CA452155199 | ENPP1 | c.735T>C (p.Thr245=) c.352T>C c.226T>C | |
| 6 | g.131858687T>G | CA452155200 | ENPP1 | c.735T>G (p.Thr245=) c.352T>G c.226T>G | |
| 6 | g.131858687_131858688delinsTA | CA1664257176 | ENPP1 | c.735_736delinsTA (p.Thr245=) c.352_353delinsTA c.226_227delinsTA | |
| 6 | g.131858688A= | CA1664257179 | ENPP1 | c.736A= (p.Lys246=) c.353A= c.227A= | |
| 6 | g.131858688A>C | CA365666006 | ENPP1 | c.736A>C (p.Lys246Gln) c.353A>C c.227A>C | |
| 6 | g.131858688A>G | CA4001994 | ENPP1 | c.736A>G (p.Lys246Glu) c.353A>G c.227A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131858688A>T | CA365666009 | ENPP1 | c.736A>T (p.Lys246Ter) c.353A>T c.227A>T | |
| 6 | g.131858692del | CA4001993 | ENPP1 | c.740del (p.Asn247ThrfsTer2) c.357del c.231del | dbSNP ExAC gnomAD v4 |
| 6 | g.131858689A= | CA1664257181 | ENPP1 | c.737A= (p.Lys246=) c.354A= c.228A= | |
| 6 | g.131858689A>C | CA365666014 | ENPP1 | c.737A>C (p.Lys246Thr) c.354A>C c.228A>C | |
| 6 | g.131858689A>G | CA365666018 | ENPP1 | c.737A>G (p.Lys246Arg) c.354A>G c.228A>G | gnomAD v4 |
| 6 | g.131858689A>T | CA365666022 | ENPP1 | c.737A>T (p.Lys246Ile) c.354A>T c.228A>T | dbSNP |
| 6 | g.131858690A>C | CA365666026 | ENPP1 | c.738A>C (p.Lys246Asn) c.355A>C c.229A>C | |
| 6 | g.131858690A>G | CA452155201 | ENPP1 | c.738A>G (p.Lys246=) c.355A>G c.229A>G | |
| 6 | g.131858690A>T | CA365666027 | ENPP1 | c.738A>T (p.Lys246Asn) c.355A>T c.229A>T | |
| 6 | g.131858691A>C | CA365666032 | ENPP1 | c.739A>C (p.Asn247His) c.356A>C c.230A>C | |
| 6 | g.131858691A>G | CA365666034 | ENPP1 | c.739A>G (p.Asn247Asp) c.356A>G c.230A>G | |
| 6 | g.131858691A>T | CA365666035 | ENPP1 | c.739A>T (p.Asn247Tyr) c.356A>T c.230A>T | |
| 6 | g.131858692A= | CA1664257185 | ENPP1 | c.740A= (p.Asn247=) c.357A= c.231A= | |
| 6 | g.131858692A>C | CA365666045 | ENPP1 | c.740A>C (p.Asn247Thr) c.357A>C c.231A>C | gnomAD v4 |
| 6 | g.131858692A>G | CA365666039 | ENPP1 | c.740A>G (p.Asn247Ser) c.357A>G c.231A>G | |
| 6 | g.131858692A>T | CA365666042 | ENPP1 | c.740A>T (p.Asn247Ile) c.357A>T c.231A>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131858693C>A | CA365666047 | ENPP1 | c.741C>A (p.Asn247Lys) c.358C>A c.232C>A | |
| 6 | g.131858693C= | CA1664257188 | ENPP1 | c.741C= (p.Asn247=) c.358C= c.232C= | |
| 6 | g.131858693C>G | CA365666049 | ENPP1 | c.741C>G (p.Asn247Lys) c.358C>G c.232C>G | |
| 6 | g.131858693C>T | CA452155202 | ENPP1 | c.741C>T (p.Asn247=) c.358C>T c.232C>T | dbSNP gnomAD v4 |
| 6 | g.131858694A= | CA1664257191 | ENPP1 | c.742A= (p.Met248=) c.359A= c.233A= | |
| 6 | g.131858694A>C | CA365666052 | ENPP1 | c.742A>C (p.Met248Leu) c.359A>C c.233A>C | gnomAD v4 |
| 6 | g.131858694A>G | CA365666055 | ENPP1 | c.742A>G (p.Met248Val) c.359A>G c.233A>G | dbSNP |
| 6 | g.131858694A>T | CA365666056 | ENPP1 | c.742A>T (p.Met248Leu) c.359A>T c.233A>T | |
| 6 | g.131858695T>A | CA365666061 | ENPP1 | c.743T>A (p.Met248Lys) c.360T>A c.234T>A | |
| 6 | g.131858695T>C | CA365666063 | ENPP1 | c.743T>C (p.Met248Thr) c.360T>C c.234T>C | gnomAD v4 |
| 6 | g.131858695T>G | CA365666065 | ENPP1 | c.743T>G (p.Met248Arg) c.360T>G c.234T>G | |
| 6 | g.131858696G>A | CA365666069 | ENPP1 | c.744G>A (p.Met248Ile) c.361G>A c.235G>A | dbSNP gnomAD v4 |
| 6 | g.131858696G>C | CA365666072 | ENPP1 | c.744G>C (p.Met248Ile) c.361G>C c.235G>C | |
| 6 | g.131858696G= | CA1664257193 | ENPP1 | c.744G= (p.Met248=) c.361G= c.235G= | |
| 6 | g.131858696G>T | CA365666076 | ENPP1 | c.744G>T (p.Met248Ile) c.361G>T c.235G>T | |
| 6 | g.131858697A>C | CA452155203 | ENPP1 | c.745A>C (p.Arg249=) c.362A>C c.236A>C | |
| 6 | g.131858697A>G | CA365666082 | ENPP1 | c.745A>G (p.Arg249Gly) c.362A>G c.236A>G | |
| 6 | g.131858697A>T | CA365666079 | ENPP1 | c.745A>T (p.Arg249Ter) c.362A>T c.236A>T | |
| 6 | g.131858698G>A | CA365666086 | ENPP1 | c.746G>A (p.Arg249Lys) c.363G>A c.237G>A | gnomAD v4 |
| 6 | g.131858698G>C | CA365666091 | ENPP1 | c.746G>C (p.Arg249Thr) c.363G>C c.237G>C | gnomAD v4 |
| 6 | g.131858698G= | CA1664257198 | ENPP1 | c.746G= (p.Arg249=) c.363G= c.237G= | |
| 6 | g.131858698G>T | CA4001995 | ENPP1 | c.746G>T (p.Arg249Ile) c.363G>T c.237G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131858699A>C | CA365666094 | ENPP1 | c.747A>C (p.Arg249Ser) c.364A>C c.238A>C | |
| 6 | g.131858699A>G | CA452155204 | ENPP1 | c.747A>G (p.Arg249=) c.364A>G c.238A>G | gnomAD v4 |
| 6 | g.131858699A>T | CA365666098 | ENPP1 | c.747A>T (p.Arg249Ser) c.364A>T c.238A>T | |
| 6 | g.131858700C>A | CA365666101 | ENPP1 | c.748C>A (p.Pro250Thr) c.365C>A c.239C>A | |
| 6 | g.131858700C= | CA1664257201 | ENPP1 | c.748C= (p.Pro250=) c.365C= c.239C= | |
| 6 | g.131858700C>G | CA365666104 | ENPP1 | c.748C>G (p.Pro250Ala) c.365C>G c.239C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131858700C>T | CA365666106 | ENPP1 | c.748C>T (p.Pro250Ser) c.365C>T c.239C>T | gnomAD v4 |
| 6 | g.131858701C>A | CA365666109 | ENPP1 | c.749C>A (p.Pro250Gln) c.366C>A c.240C>A | |
| 6 | g.131858701C= | CA1664257204 | ENPP1 | c.749C= (p.Pro250=) c.366C= c.240C= | |
| 6 | g.131858701C>G | CA365666113 | ENPP1 | c.749C>G (p.Pro250Arg) c.366C>G c.240C>G | |
| 6 | g.131858701C>T | CA4001996 | ENPP1 | c.749C>T (p.Pro250Leu) c.366C>T c.240C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131858702G>A | CA4001997 | ENPP1 | c.750G>A (p.Pro250=) c.367G>A c.241G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131858702G>C | CA452155205 | ENPP1 | c.750G>C (p.Pro250=) c.367G>C c.241G>C | ClinVar dbSNP |
| 6 | g.131858702G= | CA1664257209 | ENPP1 | c.750G= (p.Pro250=) c.367G= c.241G= | |
| 6 | g.131858702G>T | CA452155206 | ENPP1 | c.750G>T (p.Pro250=) c.367G>T c.241G>T | |
| 6 | g.131858703G>A | CA365666120 | ENPP1 | c.751G>A (p.Val251Ile) c.368G>A c.242G>A | gnomAD v4 |
| 6 | g.131858703G>C | CA365666122 | ENPP1 | c.751G>C (p.Val251Leu) c.368G>C c.242G>C | |
| 6 | g.131858703G= | CA1664257215 | ENPP1 | c.751G= (p.Val251=) c.368G= c.242G= | |
| 6 | g.131858703G>T | CA147932199 | ENPP1 | c.751G>T (p.Val251Leu) c.368G>T c.242G>T | dbSNP gnomAD v4 |
| 6 | g.131858704T>A | CA365666130 | ENPP1 | c.752T>A (p.Val251Glu) c.369T>A c.243T>A | |
| 6 | g.131858704T>C | CA365666127 | ENPP1 | c.752T>C (p.Val251Ala) c.369T>C c.243T>C | COSMIC COSMIC |
| 6 | g.131858704T>G | CA365666129 | ENPP1 | c.752T>G (p.Val251Gly) c.369T>G c.243T>G | |
| 6 | g.131858705A= | CA1664257218 | ENPP1 | c.753A= (p.Val251=) c.370A= c.244A= | |
| 6 | g.131858705A>C | CA452155208 | ENPP1 | c.753A>C (p.Val251=) c.370A>C c.244A>C | |
| 6 | g.131858705A>G | CA452155210 | ENPP1 | c.753A>G (p.Val251=) c.370A>G c.244A>G | dbSNP gnomAD v4 |
| 6 | g.131858705A>T | CA452155209 | ENPP1 | c.753A>T (p.Val251=) c.370A>T c.244A>T | |
| 6 | g.131858705_131858707del | CA2695206962 | ENPP1 | c.753_755del (p.Tyr252del) c.370_372del c.244_246del | |
| 6 | g.131858706T>A | CA365666134 | ENPP1 | c.754T>A (p.Tyr252Asn) c.371T>A c.245T>A | |
| 6 | g.131858706T>C | CA365666137 | ENPP1 | c.754T>C (p.Tyr252His) c.371T>C c.245T>C | |
| 6 | g.131858706T>G | CA365666138 | ENPP1 | c.754T>G (p.Tyr252Asp) c.371T>G c.245T>G | |
| 6 | g.131858707A>C | CA365666143 | ENPP1 | c.755A>C (p.Tyr252Ser) c.372A>C c.246A>C | |
| 6 | g.131858707A>G | CA365666145 | ENPP1 | c.755A>G (p.Tyr252Cys) c.372A>G c.246A>G | |
| 6 | g.131858707A>T | CA365666147 | ENPP1 | c.755A>T (p.Tyr252Phe) c.372A>T c.246A>T | |
| 6 | g.131858708T>A | CA365666151 | ENPP1 | c.756T>A (p.Tyr252Ter) c.373T>A c.247T>A | |
| 6 | g.131858708T>C | CA452155212 | ENPP1 | c.756T>C (p.Tyr252=) c.373T>C c.247T>C | |
| 6 | g.131858708T>G | CA365666154 | ENPP1 | c.756T>G (p.Tyr252Ter) c.373T>G c.247T>G | COSMIC |
| 6 | g.131858709C>A | CA365666156 | ENPP1 | c.757C>A (p.Pro253Thr) c.374C>A c.248C>A | gnomAD v4 |
| 6 | g.131858709C>G | CA365666159 | ENPP1 | c.757C>G (p.Pro253Ala) c.374C>G c.248C>G | |
| 6 | g.131858709C>T | CA365666162 | ENPP1 | c.757C>T (p.Pro253Ser) c.374C>T c.248C>T | |
| 6 | g.131858710C>A | CA365666172 | ENPP1 | c.758C>A (p.Pro253Gln) c.375C>A c.249C>A | |
| 6 | g.131858710C>G | CA365666168 | ENPP1 | c.758C>G (p.Pro253Arg) c.375C>G c.249C>G | |
| 6 | g.131858710C>T | CA365666166 | ENPP1 | c.758C>T (p.Pro253Leu) c.375C>T c.249C>T | |
| 6 | g.131858711A>C | CA452155214 | ENPP1 | c.759A>C (p.Pro253=) c.376A>C c.250A>C | |
| 6 | g.131858711A>G | CA452155215 | ENPP1 | c.759A>G (p.Pro253=) c.376A>G c.250A>G | |
| 6 | g.131858711A>T | CA452155216 | ENPP1 | c.759A>T (p.Pro253=) c.376A>T c.250A>T | |
| 6 | g.131858712A>C | CA365666174 | ENPP1 | c.760A>C (p.Thr254Pro) c.377A>C c.251A>C | |
| 6 | g.131858712A>G | CA365666177 | ENPP1 | c.760A>G (p.Thr254Ala) c.377A>G c.251A>G | COSMIC COSMIC |
| 6 | g.131858712A>T | CA365666180 | ENPP1 | c.760A>T (p.Thr254Ser) c.377A>T c.251A>T | |
| 6 | g.131858713del | CA2573052589 | ENPP1 | c.761del (p.Thr254LysfsTer21) c.378del c.252del | ClinVar dbSNP |
| 6 | g.131858713C>A | CA365666183 | ENPP1 | c.761C>A (p.Thr254Lys) c.378C>A c.252C>A | |
| 6 | g.131858713C>G | CA365666186 | ENPP1 | c.761C>G (p.Thr254Arg) c.378C>G c.252C>G | |
| 6 | g.131858713C>T | CA365666189 | ENPP1 | c.761C>T (p.Thr254Ile) c.378C>T c.252C>T | |
| 6 | g.131858714A>C | CA452155219 | ENPP1 | c.762A>C (p.Thr254=) c.379A>C c.253A>C | |
| 6 | g.131858714A>G | CA452155217 | ENPP1 | c.762A>G (p.Thr254=) c.379A>G c.253A>G | gnomAD v4 |
| 6 | g.131858714A>T | CA452155218 | ENPP1 | c.762A>T (p.Thr254=) c.379A>T c.253A>T | |
| 6 | g.131858715A>C | CA365666198 | ENPP1 | c.763A>C (p.Lys255Gln) c.380A>C c.254A>C | COSMIC |
| 6 | g.131858715A>G | CA365666192 | ENPP1 | c.763A>G (p.Lys255Glu) c.380A>G c.254A>G | |
| 6 | g.131858715A>T | CA365666195 | ENPP1 | c.763A>T (p.Lys255Ter) c.380A>T c.254A>T | |
| 6 | g.131858716A>C | CA365666201 | ENPP1 | c.764A>C (p.Lys255Thr) c.381A>C c.255A>C | |
| 6 | g.131858716A>G | CA365666203 | ENPP1 | c.764A>G (p.Lys255Arg) c.381A>G c.255A>G | |
| 6 | g.131858716A>T | CA365666207 | ENPP1 | c.764A>T (p.Lys255Ile) c.381A>T c.255A>T | |
| 6 | g.131858717A>C | CA365666210 | ENPP1 | c.765A>C (p.Lys255Asn) c.382A>C c.256A>C | |
| 6 | g.131858717A>G | CA452155220 | ENPP1 | c.765A>G (p.Lys255=) c.382A>G c.256A>G | |
| 6 | g.131858717A>T | CA365666212 | ENPP1 | c.765A>T (p.Lys255Asn) c.382A>T c.256A>T | |
| 6 | g.131858718A>C | CA365666215 | ENPP1 | c.766A>C (p.Thr256Pro) c.383A>C c.257A>C | |
| 6 | g.131858718A>G | CA365666221 | ENPP1 | c.766A>G (p.Thr256Ala) c.383A>G c.257A>G | ClinVar |
| 6 | g.131858718A>T | CA365666217 | ENPP1 | c.766A>T (p.Thr256Ser) c.383A>T c.257A>T | |
| 6 | g.131858719C>A | CA365666223 | ENPP1 | c.767C>A (p.Thr256Asn) c.384C>A c.258C>A | |
| 6 | g.131858719C= | CA1664257221 | ENPP1 | c.767C= (p.Thr256=) c.384C= c.258C= | |
| 6 | g.131858719C>G | CA365666225 | ENPP1 | c.767C>G (p.Thr256Ser) c.384C>G c.258C>G | |
| 6 | g.131858719C>T | CA365666227 | ENPP1 | c.767C>T (p.Thr256Ile) c.384C>T c.258C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131858720T>A | CA452155221 | ENPP1 | c.768T>A (p.Thr256=) c.385T>A c.259T>A | |
| 6 | g.131858720T>C | CA452155223 | ENPP1 | c.768T>C (p.Thr256=) c.385T>C c.259T>C | |
| 6 | g.131858720T>G | CA452155222 | ENPP1 | c.768T>G (p.Thr256=) c.385T>G c.259T>G | |
| 6 | g.131858721T>A | CA365666231 | ENPP1 | c.769T>A (p.Phe257Ile) c.386T>A c.260T>A | |
| 6 | g.131858721T>C | CA365666234 | ENPP1 | c.769T>C (p.Phe257Leu) c.386T>C c.260T>C | |
| 6 | g.131858721T>G | CA365666235 | ENPP1 | c.769T>G (p.Phe257Val) c.386T>G c.260T>G | |
| 6 | g.131858722T>A | CA365666239 | ENPP1 | c.770T>A (p.Phe257Tyr) c.387T>A c.261T>A | |
| 6 | g.131858722T>C | CA365666241 | ENPP1 | c.770T>C (p.Phe257Ser) c.387T>C c.261T>C | |
| 6 | g.131858722T>G | CA365666244 | ENPP1 | c.770T>G (p.Phe257Cys) c.387T>G c.261T>G | |
| 6 | g.131858723C>A | CA365666246 | ENPP1 | c.771C>A (p.Phe257Leu) c.388C>A c.262C>A | |
| 6 | g.131858723C>G | CA365666248 | ENPP1 | c.771C>G (p.Phe257Leu) c.388C>G c.262C>G | |
| 6 | g.131858723C>T | CA452155224 | ENPP1 | c.771C>T (p.Phe257=) c.388C>T c.262C>T | |
| 6 | g.131858726del | CA2713037674 | ENPP1 | c.774del (p.Asn259IlefsTer16) c.391del c.265del | dbSNP |
| 6 | g.131858724C>A | CA365666256 | ENPP1 | c.772C>A (p.Pro258Thr) c.389C>A c.263C>A | |
| 6 | g.131858724C>G | CA365666255 | ENPP1 | c.772C>G (p.Pro258Ala) c.389C>G c.263C>G | |
| 6 | g.131858724C>T | CA365666253 | ENPP1 | c.772C>T (p.Pro258Ser) c.389C>T c.263C>T | |
| 6 | g.131858725C>A | CA365666260 | ENPP1 | c.773C>A (p.Pro258His) c.390C>A c.264C>A | |
| 6 | g.131858725C= | CA1664257224 | ENPP1 | c.773C= (p.Pro258=) c.390C= c.264C= | |
| 6 | g.131858725C>G | CA365666264 | ENPP1 | c.773C>G (p.Pro258Arg) c.390C>G c.264C>G | |
| 6 | g.131858725C>T | CA365666262 | ENPP1 | c.773C>T (p.Pro258Leu) c.390C>T c.264C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131858726C>A | CA452155225 | ENPP1 | c.774C>A (p.Pro258=) c.391C>A c.265C>A | |
| 6 | g.131858726C>G | CA452155227 | ENPP1 | c.774C>G (p.Pro258=) c.391C>G c.265C>G | |
| 6 | g.131858726C>T | CA452155226 | ENPP1 | c.774C>T (p.Pro258=) c.391C>T c.265C>T | |
| 6 | g.131858727A= | CA1664257226 | ENPP1 | c.775A= (p.Asn259=) c.392A= c.266A= | |
| 6 | g.131858727A>C | CA365666268 | ENPP1 | c.775A>C (p.Asn259His) c.392A>C c.266A>C | |
| 6 | g.131858727A>G | CA365666273 | ENPP1 | c.775A>G (p.Asn259Asp) c.392A>G c.266A>G | |
| 6 | g.131858727A>T | CA147932201 | ENPP1 | c.775A>T (p.Asn259Tyr) c.392A>T c.266A>T | dbSNP |
| 6 | g.131858728A= | CA1664257232 | ENPP1 | c.776A= (p.Asn259=) c.393A= c.267A= | |
| 6 | g.131858728A>C | CA365666277 | ENPP1 | c.776A>C (p.Asn259Thr) c.393A>C c.267A>C | |
| 6 | g.131858728A>G | CA4001998 | ENPP1 | c.776A>G (p.Asn259Ser) c.393A>G c.267A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131858728A>T | CA365666280 | ENPP1 | c.776A>T (p.Asn259Ile) c.393A>T c.267A>T | |
| 6 | g.131858729T>A | CA365666283 | ENPP1 | c.777T>A (p.Asn259Lys) c.394T>A c.268T>A | |
| 6 | g.131858729T>C | CA452155229 | ENPP1 | c.777T>C (p.Asn259=) c.394T>C c.268T>C | |
| 6 | g.131858729T>G | CA365666285 | ENPP1 | c.777T>G (p.Asn259Lys) c.394T>G c.268T>G | |
| 6 | g.131858730C>A | CA365666288 | ENPP1 | c.778C>A (p.His260Asn) c.395C>A c.269C>A | gnomAD v4 |
| 6 | g.131858730C>G | CA365666290 | ENPP1 | c.778C>G (p.His260Asp) c.395C>G c.269C>G | |
| 6 | g.131858730C>T | CA365666291 | ENPP1 | c.778C>T (p.His260Tyr) c.395C>T c.269C>T | COSMIC |
| 6 | g.131858731A>C | CA365666296 | ENPP1 | c.779A>C (p.His260Pro) c.396A>C c.270A>C | |
| 6 | g.131858731A>G | CA365666298 | ENPP1 | c.779A>G (p.His260Arg) c.396A>G c.270A>G | |
| 6 | g.131858731A>T | CA365666299 | ENPP1 | c.779A>T (p.His260Leu) c.396A>T c.270A>T | |
| 6 | g.131858732C>A | CA365666305 | ENPP1 | c.780C>A (p.His260Gln) c.397C>A c.271C>A | gnomAD v4 |
| 6 | g.131858732C>G | CA365666302 | ENPP1 | c.780C>G (p.His260Gln) c.397C>G c.271C>G | |
| 6 | g.131858732C>T | CA452155231 | ENPP1 | c.780C>T (p.His260=) c.397C>T c.271C>T | |
| 6 | g.131858733T>A | CA365666307 | ENPP1 | c.781T>A (p.Tyr261Asn) c.398T>A c.272T>A | |
| 6 | g.131858733T>C | CA365666308 | ENPP1 | c.781T>C (p.Tyr261His) c.398T>C c.272T>C | |
| 6 | g.131858733T>G | CA365666310 | ENPP1 | c.781T>G (p.Tyr261Asp) c.398T>G c.272T>G | |
| 6 | g.131858734A>C | CA365666313 | ENPP1 | c.782A>C (p.Tyr261Ser) c.399A>C c.273A>C | |
| 6 | g.131858734A>G | CA365666315 | ENPP1 | c.782A>G (p.Tyr261Cys) c.399A>G c.273A>G | gnomAD v4 |
| 6 | g.131858734A>T | CA365666317 | ENPP1 | c.782A>T (p.Tyr261Phe) c.399A>T c.273A>T | |
| 6 | g.131858735C>A | CA365666320 | ENPP1 | c.783C>A (p.Tyr261Ter) c.400C>A c.274C>A | gnomAD v4 |
| 6 | g.131858735C= | CA1664257238 | ENPP1 | c.783C= (p.Tyr261=) c.400C= c.274C= | |
| 6 | g.131858735C>G | CA256909 | ENPP1 | c.783C>G (p.Tyr261Ter) c.400C>G c.274C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131858735C>T | CA452155232 | ENPP1 | c.783C>T (p.Tyr261=) c.400C>T c.274C>T | gnomAD v4 |
| 6 | g.131858736A>C | CA365666324 | ENPP1 | c.784A>C (p.Ser262Arg) c.401A>C c.275A>C | |
| 6 | g.131858736A>G | CA365666326 | ENPP1 | c.784A>G (p.Ser262Gly) c.401A>G c.275A>G | |
| 6 | g.131858736A>T | CA365666329 | ENPP1 | c.784A>T (p.Ser262Cys) c.401A>T c.275A>T | |
| 6 | g.131858737G>A | CA365666335 | ENPP1 | c.785G>A (p.Ser262Asn) c.402G>A c.276G>A | |
| 6 | g.131858737G>C | CA365666338 | ENPP1 | c.785G>C (p.Ser262Thr) c.402G>C c.276G>C | |
| 6 | g.131858737G>T | CA365666332 | ENPP1 | c.785G>T (p.Ser262Ile) c.402G>T c.276G>T | |
| 6 | g.131858738C>A | CA365666340 | ENPP1 | c.786C>A (p.Ser262Arg) c.403C>A c.277C>A | gnomAD v4 |
| 6 | g.131858738C>G | CA365666341 | ENPP1 | c.786C>G (p.Ser262Arg) c.403C>G c.277C>G | |
| 6 | g.131858738C>T | CA452155234 | ENPP1 | c.786C>T (p.Ser262=) c.403C>T c.277C>T | |
| 6 | g.131858739A>C | CA365666344 | ENPP1 | c.787A>C (p.Ile263Leu) c.404A>C c.278A>C | |
| 6 | g.131858739A>G | CA365666347 | ENPP1 | c.787A>G (p.Ile263Val) c.404A>G c.278A>G | gnomAD v4 |
| 6 | g.131858739A>T | CA365666350 | ENPP1 | c.787A>T (p.Ile263Phe) c.404A>T c.278A>T | ClinVar |
| 6 | g.131858740T>A | CA365666357 | ENPP1 | c.788T>A (p.Ile263Asn) c.405T>A c.279T>A | |
| 6 | g.131858740T>C | CA365666359 | ENPP1 | c.788T>C (p.Ile263Thr) c.405T>C c.279T>C | |
| 6 | g.131858740T>G | CA365666362 | ENPP1 | c.788T>G (p.Ile263Ser) c.405T>G c.279T>G | |
| 6 | g.131858741T>A | CA452155236 | ENPP1 | c.789T>A (p.Ile263=) c.406T>A c.280T>A | |
| 6 | g.131858741T>C | CA452155235 | ENPP1 | c.789T>C (p.Ile263=) c.406T>C c.280T>C | |
| 6 | g.131858741T>G | CA365666365 | ENPP1 | c.789T>G (p.Ile263Met) c.406T>G c.280T>G | gnomAD v4 |
| 6 | g.131858742G>A | CA365666366 | ENPP1 | c.790G>A (p.Val264Ile) c.407G>A c.281G>A | |
| 6 | g.131858742G>C | CA365666369 | ENPP1 | c.790G>C (p.Val264Leu) c.407G>C c.281G>C | |
| 6 | g.131858742G>T | CA365666372 | ENPP1 | c.790G>T (p.Val264Phe) c.407G>T c.281G>T | |
| 6 | g.131858743T>A | CA365666376 | ENPP1 | c.791T>A (p.Val264Asp) c.408T>A c.282T>A | |
| 6 | g.131858743T>C | CA365666379 | ENPP1 | c.791T>C (p.Val264Ala) c.408T>C c.282T>C | |
| 6 | g.131858743T>G | CA365666374 | ENPP1 | c.791T>G (p.Val264Gly) c.408T>G c.282T>G | |
| 6 | g.131858744C>A | CA452155237 | ENPP1 | c.792C>A (p.Val264=) c.409C>A c.283C>A | gnomAD v4 |
| 6 | g.131858744C>G | CA452155238 | ENPP1 | c.792C>G (p.Val264=) c.409C>G c.283C>G | |
| 6 | g.131858744C>T | CA452155239 | ENPP1 | c.792C>T (p.Val264=) c.409C>T c.283C>T | |
| 6 | g.131858745A>C | CA365666381 | ENPP1 | c.793A>C (p.Thr265Pro) c.410A>C c.284A>C | |
| 6 | g.131858745A>G | CA365666383 | ENPP1 | c.793A>G (p.Thr265Ala) c.410A>G c.284A>G | |
| 6 | g.131858745A>T | CA365666387 | ENPP1 | c.793A>T (p.Thr265Ser) c.410A>T c.284A>T | |
| 6 | g.131858746C>A | CA365666390 | ENPP1 | c.794C>A (p.Thr265Asn) c.411C>A c.285C>A | gnomAD v4 |
| 6 | g.131858746C>G | CA365666393 | ENPP1 | c.794C>G (p.Thr265Ser) c.411C>G c.285C>G | |
| 6 | g.131858746C>T | CA365666395 | ENPP1 | c.794C>T (p.Thr265Ile) c.411C>T c.285C>T | |
| 6 | g.131858747C>A | CA452155240 | ENPP1 | c.795C>A (p.Thr265=) c.412C>A c.286C>A | gnomAD v4 |
| 6 | g.131858747C= | CA1664257248 | ENPP1 | c.795C= (p.Thr265=) c.412C= c.286C= | |
| 6 | g.131858747C>G | CA452155241 | ENPP1 | c.795C>G (p.Thr265=) c.412C>G c.286C>G | |
| 6 | g.131858747C>T | CA4001999 | ENPP1 | c.795C>T (p.Thr265=) c.412C>T c.286C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.131858748G>A | CA4002000 | ENPP1 | c.795+1G>A (n.795+1G>A) c.412+1G>A c.286+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.131858748G>C | CA365666403 | ENPP1 | c.795+1G>C (n.795+1G>C) c.412+1G>C c.286+1G>C | gnomAD v4 |
| 6 | g.131858748G= | CA1664257254 | ENPP1 | c.795+1G= (n.795+1G=) c.412+1G= c.286+1G= | |
| 6 | g.131858748G>T | CA365666404 | ENPP1 | c.795+1G>T (n.795+1G>T) c.412+1G>T c.286+1G>T | |
| 6 | g.131858749T>A | CA365666407 | ENPP1 | c.795+2T>A (n.795+2T>A) c.412+2T>A c.286+2T>A | gnomAD v4 |
| 6 | g.131858749T>C | CA365666409 | ENPP1 | c.795+2T>C (n.795+2T>C) c.412+2T>C c.286+2T>C | |
| 6 | g.131858749T>G | CA365666412 | ENPP1 | c.795+2T>G (n.795+2T>G) c.412+2T>G c.286+2T>G | |
| 6 | g.131858752G>A | CA1664257260 | ENPP1 | c.795+5G>A (n.795+5G>A) c.412+5G>A c.286+5G>A | dbSNP |
| 6 | g.131858752G= | CA1664257259 | ENPP1 | c.795+5G= (n.795+5G=) c.412+5G= c.286+5G= | |
| 6 | g.131858753C>A | CA2680366934 | ENPP1 | c.795+6C>A (n.795+6C>A) c.412+6C>A c.286+6C>A | gnomAD v4 |
| 6 | g.131858754T>C | CA4002001 | ENPP1 | c.795+7T>C (n.795+7T>C) c.412+7T>C c.286+7T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131858754T>G | CA570098174 | ENPP1 | c.795+7T>G (n.795+7T>G) c.412+7T>G c.286+7T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131858754T= | CA1664257263 | ENPP1 | c.795+7T= (n.795+7T=) c.412+7T= c.286+7T= | |
| 6 | g.131858755C>A | CA2680366935 | ENPP1 | c.795+8C>A (n.795+8C>A) c.412+8C>A c.286+8C>A | gnomAD v4 |
| 6 | g.131858756T>C | CA2680366936 | ENPP1 | c.795+9T>C (n.795+9T>C) c.412+9T>C c.286+9T>C | gnomAD v4 |
| 6 | g.131858756T>G | CA2680366937 | ENPP1 | c.795+9T>G (n.795+9T>G) c.412+9T>G c.286+9T>G | gnomAD v4 |
| 6 | g.131858757G>A | CA2680366938 | ENPP1 | c.795+10G>A (n.795+10G>A) c.412+10G>A c.286+10G>A | gnomAD v4 |
| 6 | g.131858758C>A | CA2680366939 | ENPP1 | c.795+11C>A (n.795+11C>A) c.412+11C>A c.286+11C>A | gnomAD v4 |
| 6 | g.131858758C>T | CA2680366940 | ENPP1 | c.795+11C>T (n.795+11C>T) c.412+11C>T c.286+11C>T | gnomAD v4 |
| 6 | g.131858759A= | CA1664257267 | ENPP1 | c.795+12A= (n.795+12A=) c.412+12A= c.286+12A= | |
| 6 | g.131858759A>C | CA2680366941 | ENPP1 | c.795+12A>C (n.795+12A>C) c.412+12A>C c.286+12A>C | gnomAD v4 |
| 6 | g.131858759A>G | CA1094545627 | ENPP1 | c.795+12A>G (n.795+12A>G) c.412+12A>G c.286+12A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131858760T>C | CA819065101 | ENPP1 | c.795+13T>C (n.795+13T>C) c.412+13T>C c.286+13T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131858760T= | CA1664257269 | ENPP1 | c.795+13T= (n.795+13T=) c.412+13T= c.286+13T= | |
| 6 | g.131858763C>A | CA2680366942 | ENPP1 | c.795+16C>A (n.795+16C>A) c.412+16C>A c.286+16C>A | gnomAD v4 |
| 6 | g.131858764A= | CA1664257274 | ENPP1 | c.795+17A= (n.795+17A=) c.412+17A= c.286+17A= | |
| 6 | g.131858764A>C | CA4002002 | ENPP1 | c.795+17A>C (n.795+17A>C) c.412+17A>C c.286+17A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131858764A>G | CA2680366943 | ENPP1 | c.795+17A>G (n.795+17A>G) c.412+17A>G c.286+17A>G | gnomAD v4 |
| 6 | g.131858765A= | CA1664257276 | ENPP1 | c.795+18A= (n.795+18A=) c.412+18A= c.286+18A= | |
| 6 | g.131858765A>G | CA2680366944 | ENPP1 | c.795+18A>G (n.795+18A>G) c.412+18A>G c.286+18A>G | gnomAD v4 |
| 6 | g.131858765A>T | CA1664257277 | ENPP1 | c.795+18A>T (n.795+18A>T) c.412+18A>T c.286+18A>T | dbSNP |
| 6 | g.131858766C>A | CA570098175 | ENPP1 | c.795+19C>A (n.795+19C>A) c.412+19C>A c.286+19C>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131858766C= | CA1664257278 | ENPP1 | c.795+19C= (n.795+19C=) c.412+19C= c.286+19C= | |
| 6 | g.131858767T>C | CA2680366945 | ENPP1 | c.795+20T>C (n.795+20T>C) c.412+20T>C c.286+20T>C | gnomAD v4 |