| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127421393_127421395del | CA535638970 | PROC | c.181_183del (p.Glu62del) c.364_366del (p.Glu123del) c.244_246del (p.Glu83del) c.424_426del (p.Glu143del) c.265_267del (p.Glu90del) c.157_159del (p.Glu54del) c.175_177del (p.Glu60del) c.146_148del (p.Gly50del) n.264_266del | dbSNP gnomAD |
| 2 | g.127421397A>C | CA114402 | PROC | c.185A>C (p.Glu62Ala) c.368A>C (p.Glu123Ala) c.248A>C (p.Glu83Ala) c.428A>C (p.Glu143Ala) c.269A>C (p.Glu90Ala) c.161A>C (p.Glu54Ala) c.179A>C (p.Glu60Ala) c.150A>C (p.Gly50=) n.268A>C | ClinVar dbSNP |
| 2 | g.127421397A>G | CA348398051 | PROC | c.185A>G (p.Glu62Gly) c.368A>G (p.Glu123Gly) c.248A>G (p.Glu83Gly) c.428A>G (p.Glu143Gly) c.269A>G (p.Glu90Gly) c.161A>G (p.Glu54Gly) c.179A>G (p.Glu60Gly) c.150A>G (p.Gly50=) n.268A>G | |
| 2 | g.127421397A>T | CA348398053 | PROC | c.185A>T (p.Glu62Val) c.368A>T (p.Glu123Val) c.248A>T (p.Glu83Val) c.428A>T (p.Glu143Val) c.269A>T (p.Glu90Val) c.161A>T (p.Glu54Val) c.179A>T (p.Glu60Val) c.150A>T (p.Gly50=) n.268A>T | |
| 2 | g.127421398G>A | CA428617446 | PROC | c.186G>A (p.Glu62=) c.369G>A (p.Glu123=) c.249G>A (p.Glu83=) c.429G>A (p.Glu143=) c.270G>A (p.Glu90=) c.162G>A (p.Glu54=) c.180G>A (p.Glu60=) c.151G>A (p.Asp51Asn) n.269G>A | |
| 2 | g.127421398G>C | CA348398059 | PROC | c.186G>C (p.Glu62Asp) c.369G>C (p.Glu123Asp) c.249G>C (p.Glu83Asp) c.429G>C (p.Glu143Asp) c.270G>C (p.Glu90Asp) c.162G>C (p.Glu54Asp) c.180G>C (p.Glu60Asp) c.151G>C (p.Asp51His) n.269G>C | |
| 2 | g.127421398G>T | CA348398061 | PROC | c.186G>T (p.Glu62Asp) c.369G>T (p.Glu123Asp) c.249G>T (p.Glu83Asp) c.429G>T (p.Glu143Asp) c.270G>T (p.Glu90Asp) c.162G>T (p.Glu54Asp) c.180G>T (p.Glu60Asp) c.151G>T (p.Asp51Tyr) n.269G>T | |
| 2 | g.127421399A>C | CA348398067 | PROC | c.187A>C (p.Ile63Leu) c.370A>C (p.Ile124Leu) c.250A>C (p.Ile84Leu) c.430A>C (p.Ile144Leu) c.271A>C (p.Ile91Leu) c.163A>C (p.Ile55Leu) c.181A>C (p.Ile61Leu) c.152A>C (p.Asp51Ala) n.270A>C | |
| 2 | g.127421399A>G | CA348398070 | PROC | c.187A>G (p.Ile63Val) c.370A>G (p.Ile124Val) c.250A>G (p.Ile84Val) c.430A>G (p.Ile144Val) c.271A>G (p.Ile91Val) c.163A>G (p.Ile55Val) c.181A>G (p.Ile61Val) c.152A>G (p.Asp51Gly) n.270A>G | |
| 2 | g.127421399A>T | CA348398071 | PROC | c.187A>T (p.Ile63Phe) c.370A>T (p.Ile124Phe) c.250A>T (p.Ile84Phe) c.430A>T (p.Ile144Phe) c.271A>T (p.Ile91Phe) c.163A>T (p.Ile55Phe) c.181A>T (p.Ile61Phe) c.152A>T (p.Asp51Val) n.270A>T | |
| 2 | g.127421400T>A | CA348398072 | PROC | c.188T>A (p.Ile63Asn) c.371T>A (p.Ile124Asn) c.251T>A (p.Ile84Asn) c.431T>A (p.Ile144Asn) c.272T>A (p.Ile91Asn) c.164T>A (p.Ile55Asn) c.182T>A (p.Ile61Asn) c.153T>A (p.Asp51Glu) n.271T>A | |
| 2 | g.127421400T>C | CA348398073 | PROC | c.188T>C (p.Ile63Thr) c.371T>C (p.Ile124Thr) c.251T>C (p.Ile84Thr) c.431T>C (p.Ile144Thr) c.272T>C (p.Ile91Thr) c.164T>C (p.Ile55Thr) c.182T>C (p.Ile61Thr) c.153T>C (p.Asp51=) n.271T>C | |
| 2 | g.127421400T>G | CA348398074 | PROC | c.188T>G (p.Ile63Ser) c.371T>G (p.Ile124Ser) c.251T>G (p.Ile84Ser) c.431T>G (p.Ile144Ser) c.272T>G (p.Ile91Ser) c.164T>G (p.Ile55Ser) c.182T>G (p.Ile61Ser) c.153T>G (p.Asp51Glu) n.271T>G | |
| 2 | g.127421401C>A | CA428617448 | PROC | c.189C>A (p.Ile63=) c.372C>A (p.Ile124=) c.252C>A (p.Ile84=) c.432C>A (p.Ile144=) c.273C>A (p.Ile91=) c.165C>A (p.Ile55=) c.183C>A (p.Ile61=) c.154C>A (p.Leu52Met) n.272C>A | |
| 2 | g.127421401C>G | CA348398077 | PROC | c.189C>G (p.Ile63Met) c.372C>G (p.Ile124Met) c.252C>G (p.Ile84Met) c.432C>G (p.Ile144Met) c.273C>G (p.Ile91Met) c.165C>G (p.Ile55Met) c.183C>G (p.Ile61Met) c.154C>G (p.Leu52Val) n.272C>G | |
| 2 | g.127421401C>T | CA428617447 | PROC | c.189C>T (p.Ile63=) c.372C>T (p.Ile124=) c.252C>T (p.Ile84=) c.432C>T (p.Ile144=) c.273C>T (p.Ile91=) c.165C>T (p.Ile55=) c.183C>T (p.Ile61=) c.154C>T (p.Leu52=) n.272C>T | |
| 2 | g.127421402T>A | CA348398083 | PROC | c.190T>A (p.Cys64Ser) c.373T>A (p.Cys125Ser) c.253T>A (p.Cys85Ser) c.433T>A (p.Cys145Ser) c.274T>A (p.Cys92Ser) c.166T>A (p.Cys56Ser) c.184T>A (p.Cys62Ser) c.155T>A (p.Leu52Gln) n.273T>A | |
| 2 | g.127421402T>C | CA348398081 | PROC | c.190T>C (p.Cys64Arg) c.373T>C (p.Cys125Arg) c.253T>C (p.Cys85Arg) c.433T>C (p.Cys145Arg) c.274T>C (p.Cys92Arg) c.166T>C (p.Cys56Arg) c.184T>C (p.Cys62Arg) c.155T>C (p.Leu52Pro) n.273T>C | |
| 2 | g.127421402T>G | CA348398079 | PROC | c.190T>G (p.Cys64Gly) c.373T>G (p.Cys125Gly) c.253T>G (p.Cys85Gly) c.433T>G (p.Cys145Gly) c.274T>G (p.Cys92Gly) c.166T>G (p.Cys56Gly) c.184T>G (p.Cys62Gly) c.155T>G (p.Leu52Arg) n.273T>G | |
| 2 | g.127421403G>A | CA348398086 | PROC | c.191G>A (p.Cys64Tyr) c.374G>A (p.Cys125Tyr) c.254G>A (p.Cys85Tyr) c.434G>A (p.Cys145Tyr) c.275G>A (p.Cys92Tyr) c.167G>A (p.Cys56Tyr) c.185G>A (p.Cys62Tyr) c.156G>A (p.Leu52=) n.274G>A | |
| 2 | g.127421403G>C | CA348398089 | PROC | c.191G>C (p.Cys64Ser) c.374G>C (p.Cys125Ser) c.254G>C (p.Cys85Ser) c.434G>C (p.Cys145Ser) c.275G>C (p.Cys92Ser) c.167G>C (p.Cys56Ser) c.185G>C (p.Cys62Ser) c.156G>C (p.Leu52=) n.274G>C | |
| 2 | g.127421403G>T | CA348398091 | PROC | c.191G>T (p.Cys64Phe) c.374G>T (p.Cys125Phe) c.254G>T (p.Cys85Phe) c.434G>T (p.Cys145Phe) c.275G>T (p.Cys92Phe) c.167G>T (p.Cys56Phe) c.185G>T (p.Cys62Phe) c.156G>T (p.Leu52=) n.274G>T | |
| 2 | g.127421404T>A | CA348398093 | PROC | c.192T>A (p.Cys64Ter) c.375T>A (p.Cys125Ter) c.255T>A (p.Cys85Ter) c.435T>A (p.Cys145Ter) c.276T>A (p.Cys92Ter) c.168T>A (p.Cys56Ter) c.186T>A (p.Cys62Ter) c.157T>A (p.Ter53Arg) n.275T>A | |
| 2 | g.127421404T>C | CA428617449 | PROC | c.192T>C (p.Cys64=) c.375T>C (p.Cys125=) c.255T>C (p.Cys85=) c.435T>C (p.Cys145=) c.276T>C (p.Cys92=) c.168T>C (p.Cys56=) c.186T>C (p.Cys62=) c.157T>C (p.Ter53Arg) n.275T>C | |
| 2 | g.127421404T>G | CA348398096 | PROC | c.192T>G (p.Cys64Trp) c.375T>G (p.Cys125Trp) c.255T>G (p.Cys85Trp) c.435T>G (p.Cys145Trp) c.276T>G (p.Cys92Trp) c.168T>G (p.Cys56Trp) c.186T>G (p.Cys62Trp) c.157T>G (p.Ter53Gly) n.275T>G | |
| 2 | g.127421405G>A | CA348398099 | PROC | c.193G>A (p.Asp65Asn) c.376G>A (p.Asp126Asn) c.256G>A (p.Asp86Asn) c.436G>A (p.Asp146Asn) c.277G>A (p.Asp93Asn) c.169G>A (p.Asp57Asn) c.187G>A (p.Asp63Asn) c.158G>A (p.Ter53=) n.276G>A | gnomAD |
| 2 | g.127421405G>C | CA348398100 | PROC | c.193G>C (p.Asp65His) c.376G>C (p.Asp126His) c.256G>C (p.Asp86His) c.436G>C (p.Asp146His) c.277G>C (p.Asp93His) c.169G>C (p.Asp57His) c.187G>C (p.Asp63His) c.158G>C (p.Ter53Ser) n.276G>C | |
| 2 | g.127421405G>T | CA348398103 | PROC | c.193G>T (p.Asp65Tyr) c.376G>T (p.Asp126Tyr) c.256G>T (p.Asp86Tyr) c.436G>T (p.Asp146Tyr) c.277G>T (p.Asp93Tyr) c.169G>T (p.Asp57Tyr) c.187G>T (p.Asp63Tyr) c.158G>T (p.Ter53Leu) n.276G>T | |
| 2 | g.127421406A>C | CA348398105 | PROC | c.194A>C (p.Asp65Ala) c.377A>C (p.Asp126Ala) c.257A>C (p.Asp86Ala) c.437A>C (p.Asp146Ala) c.278A>C (p.Asp93Ala) c.170A>C (p.Asp57Ala) c.188A>C (p.Asp63Ala) c.159A>C (p.Ter53Cys) n.277A>C | |
| 2 | g.127421406A>G | CA348398108 | PROC | c.194A>G (p.Asp65Gly) c.377A>G (p.Asp126Gly) c.257A>G (p.Asp86Gly) c.437A>G (p.Asp146Gly) c.278A>G (p.Asp93Gly) c.170A>G (p.Asp57Gly) c.188A>G (p.Asp63Gly) c.159A>G (p.Ter53Trp) n.277A>G | |
| 2 | g.127421406A>T | CA348398110 | PROC | c.194A>T (p.Asp65Val) c.377A>T (p.Asp126Val) c.257A>T (p.Asp86Val) c.437A>T (p.Asp146Val) c.278A>T (p.Asp93Val) c.170A>T (p.Asp57Val) c.188A>T (p.Asp63Val) c.159A>T (p.Ter53Cys) n.277A>T | |
| 2 | g.127421407C>A | CA348398111 | PROC | c.195C>A (p.Asp65Glu) c.378C>A (p.Asp126Glu) c.258C>A (p.Asp86Glu) c.438C>A (p.Asp146Glu) c.279C>A (p.Asp93Glu) c.171C>A (p.Asp57Glu) c.189C>A (p.Asp63Glu) c.*1C>A n.278C>A | |
| 2 | g.127421407C>G | CA348398112 | PROC | c.195C>G (p.Asp65Glu) c.378C>G (p.Asp126Glu) c.258C>G (p.Asp86Glu) c.438C>G (p.Asp146Glu) c.279C>G (p.Asp93Glu) c.171C>G (p.Asp57Glu) c.189C>G (p.Asp63Glu) c.*1C>G n.278C>G | |
| 2 | g.127421407C>T | CA55343019 | PROC | c.195C>T (p.Asp65=) c.378C>T (p.Asp126=) c.258C>T (p.Asp86=) c.438C>T (p.Asp146=) c.279C>T (p.Asp93=) c.171C>T (p.Asp57=) c.189C>T (p.Asp63=) c.*1C>T n.278C>T | dbSNP |
| 2 | g.127421408T>A | CA348398114 | PROC | c.196T>A (p.Phe66Ile) c.379T>A (p.Phe127Ile) c.259T>A (p.Phe87Ile) c.439T>A (p.Phe147Ile) c.280T>A (p.Phe94Ile) c.172T>A (p.Phe58Ile) c.190T>A (p.Phe64Ile) c.*2T>A n.279T>A | |
| 2 | g.127421408T>C | CA348398115 | PROC | c.196T>C (p.Phe66Leu) c.379T>C (p.Phe127Leu) c.259T>C (p.Phe87Leu) c.439T>C (p.Phe147Leu) c.280T>C (p.Phe94Leu) c.172T>C (p.Phe58Leu) c.190T>C (p.Phe64Leu) c.*2T>C n.279T>C | |
| 2 | g.127421408T>G | CA348398113 | PROC | c.196T>G (p.Phe66Val) c.379T>G (p.Phe127Val) c.259T>G (p.Phe87Val) c.439T>G (p.Phe147Val) c.280T>G (p.Phe94Val) c.172T>G (p.Phe58Val) c.190T>G (p.Phe64Val) c.*2T>G n.279T>G | |
| 2 | g.127421409T>A | CA348398116 | PROC | c.197T>A (p.Phe66Tyr) c.380T>A (p.Phe127Tyr) c.260T>A (p.Phe87Tyr) c.440T>A (p.Phe147Tyr) c.281T>A (p.Phe94Tyr) c.173T>A (p.Phe58Tyr) c.191T>A (p.Phe64Tyr) c.*3T>A n.280T>A | |
| 2 | g.127421409T>C | CA348398117 | PROC | c.197T>C (p.Phe66Ser) c.380T>C (p.Phe127Ser) c.260T>C (p.Phe87Ser) c.440T>C (p.Phe147Ser) c.281T>C (p.Phe94Ser) c.173T>C (p.Phe58Ser) c.191T>C (p.Phe64Ser) c.*3T>C n.280T>C | |
| 2 | g.127421409T>G | CA348398118 | PROC | c.197T>G (p.Phe66Cys) c.380T>G (p.Phe127Cys) c.260T>G (p.Phe87Cys) c.440T>G (p.Phe147Cys) c.281T>G (p.Phe94Cys) c.173T>G (p.Phe58Cys) c.191T>G (p.Phe64Cys) c.*3T>G n.280T>G | |
| 2 | g.127421410C>A | CA348398119 | PROC | c.198C>A (p.Phe66Leu) c.381C>A (p.Phe127Leu) c.261C>A (p.Phe87Leu) c.441C>A (p.Phe147Leu) c.282C>A (p.Phe94Leu) c.174C>A (p.Phe58Leu) c.192C>A (p.Phe64Leu) c.*4C>A (p.=) n.281C>A | |
| 2 | g.127421410C>G | CA1859253 | PROC | c.198C>G (p.Phe66Leu) c.381C>G (p.Phe127Leu) c.261C>G (p.Phe87Leu) c.441C>G (p.Phe147Leu) c.282C>G (p.Phe94Leu) c.174C>G (p.Phe58Leu) c.192C>G (p.Phe64Leu) c.*4C>G (p.=) n.281C>G | dbSNP ExAC gnomAD |
| 2 | g.127421410C>T | CA1859252 | PROC | c.198C>T (p.Phe66=) c.381C>T (p.Phe127=) c.261C>T (p.Phe87=) c.441C>T (p.Phe147=) c.282C>T (p.Phe94=) c.174C>T (p.Phe58=) c.192C>T (p.Phe64=) c.*4C>T (p.=) n.281C>T | dbSNP ExAC gnomAD |
| 2 | g.127421411G>A | CA348398122 | PROC | c.199G>A (p.Glu67Lys) c.382G>A (p.Glu128Lys) c.262G>A (p.Glu88Lys) c.442G>A (p.Glu148Lys) c.283G>A (p.Glu95Lys) c.175G>A (p.Glu59Lys) c.193G>A (p.Glu65Lys) c.*5G>A (p.=) n.282G>A | ClinVar |
| 2 | g.127421411G>C | CA348398120 | PROC | c.199G>C (p.Glu67Gln) c.382G>C (p.Glu128Gln) c.262G>C (p.Glu88Gln) c.442G>C (p.Glu148Gln) c.283G>C (p.Glu95Gln) c.175G>C (p.Glu59Gln) c.193G>C (p.Glu65Gln) c.*5G>C (p.=) n.282G>C | |
| 2 | g.127421411G>T | CA348398121 | PROC | c.199G>T (p.Glu67Ter) c.382G>T (p.Glu128Ter) c.262G>T (p.Glu88Ter) c.442G>T (p.Glu148Ter) c.283G>T (p.Glu95Ter) c.175G>T (p.Glu59Ter) c.193G>T (p.Glu65Ter) c.*5G>T (p.=) n.282G>T | |
| 2 | g.127421412A>C | CA348398123 | PROC | c.200A>C (p.Glu67Ala) c.383A>C (p.Glu128Ala) c.263A>C (p.Glu88Ala) c.443A>C (p.Glu148Ala) c.284A>C (p.Glu95Ala) c.176A>C (p.Glu59Ala) c.194A>C (p.Glu65Ala) c.*6A>C (p.=) n.283A>C | |
| 2 | g.127421412A>G | CA348398124 | PROC | c.200A>G (p.Glu67Gly) c.383A>G (p.Glu128Gly) c.263A>G (p.Glu88Gly) c.443A>G (p.Glu148Gly) c.284A>G (p.Glu95Gly) c.176A>G (p.Glu59Gly) c.194A>G (p.Glu65Gly) c.*6A>G (p.=) n.283A>G | |
| 2 | g.127421412A>T | CA348398125 | PROC | c.200A>T (p.Glu67Val) c.383A>T (p.Glu128Val) c.263A>T (p.Glu88Val) c.443A>T (p.Glu148Val) c.284A>T (p.Glu95Val) c.176A>T (p.Glu59Val) c.194A>T (p.Glu65Val) c.*6A>T (p.=) n.283A>T | |
| 2 | g.127421413G>A | CA428617450 | PROC | c.201G>A (p.Glu67=) c.384G>A (p.Glu128=) c.264G>A (p.Glu88=) c.444G>A (p.Glu148=) c.285G>A (p.Glu95=) c.177G>A (p.Glu59=) c.195G>A (p.Glu65=) c.*7G>A (p.=) n.284G>A |