| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127421402T>A | CA348398083 | PROC | c.190T>A (p.Cys64Ser) c.155T>A (p.Leu52Gln) n.273T>A 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) | |
| 2 | g.127421402T>C | CA348398081 | PROC | c.190T>C (p.Cys64Arg) c.155T>C (p.Leu52Pro) n.273T>C 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) | |
| 2 | g.127421402T>G | CA348398079 | PROC | c.190T>G (p.Cys64Gly) c.155T>G (p.Leu52Arg) n.273T>G 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) | |
| 2 | g.127421403G>A | CA348398086 | PROC | c.191G>A (p.Cys64Tyr) c.156G>A (p.Leu52=) n.274G>A 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) | |
| 2 | g.127421403G>C | CA348398089 | PROC | c.191G>C (p.Cys64Ser) c.156G>C (p.Leu52=) n.274G>C 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) | |
| 2 | g.127421403G>T | CA348398091 | PROC | c.191G>T (p.Cys64Phe) c.156G>T (p.Leu52=) n.274G>T 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) | |
| 2 | g.127421404T>A | CA348398093 | PROC | c.192T>A (p.Cys64Ter) c.157T>A (p.Ter53Arg) n.275T>A 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) | |
| 2 | g.127421404T>C | CA428617449 | PROC | c.192T>C (p.Cys64=) c.157T>C (p.Ter53Arg) n.275T>C 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=) | |
| 2 | g.127421404T>G | CA348398096 | PROC | c.192T>G (p.Cys64Trp) c.157T>G (p.Ter53Gly) n.275T>G 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) | |
| 2 | g.127421405G>A | CA348398099 | PROC | c.193G>A (p.Asp65Asn) c.158G>A (p.Ter53=) n.276G>A 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) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127421405G>C | CA348398100 | PROC | c.193G>C (p.Asp65His) c.158G>C (p.Ter53Ser) n.276G>C 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) | |
| 2 | g.127421405G= | CA1286880902 | PROC | c.193G= (p.Asp65=) c.158G= (p.Ter53=) n.276G= c.376G= (p.Asp126=) c.256G= (p.Asp86=) c.436G= (p.Asp146=) c.277G= (p.Asp93=) c.169G= (p.Asp57=) c.187G= (p.Asp63=) | |
| 2 | g.127421405G>T | CA348398103 | PROC | c.193G>T (p.Asp65Tyr) c.158G>T (p.Ter53Leu) n.276G>T 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) | |
| 2 | g.127421406A>C | CA348398105 | PROC | c.194A>C (p.Asp65Ala) c.159A>C (p.Ter53Cys) n.277A>C 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) | |
| 2 | g.127421406A>G | CA348398108 | PROC | c.194A>G (p.Asp65Gly) c.159A>G (p.Ter53Trp) n.277A>G 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) | |
| 2 | g.127421406A>T | CA348398110 | PROC | c.194A>T (p.Asp65Val) c.159A>T (p.Ter53Cys) n.277A>T 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) | |
| 2 | g.127421407C>A | CA348398111 | PROC | c.195C>A (p.Asp65Glu) c.*1C>A (n.*1C>A) n.278C>A 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) | |
| 2 | g.127421407C= | CA1286880907 | PROC | c.195C= (p.Asp65=) c.*1C= (n.*1C=) n.278C= c.378C= (p.Asp126=) c.258C= (p.Asp86=) c.438C= (p.Asp146=) c.279C= (p.Asp93=) c.171C= (p.Asp57=) c.189C= (p.Asp63=) | |
| 2 | g.127421407C>G | CA348398112 | PROC | c.195C>G (p.Asp65Glu) c.*1C>G (n.*1C>G) n.278C>G 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) | |
| 2 | g.127421407C>T | CA55343019 | PROC | c.195C>T (p.Asp65=) c.*1C>T (n.*1C>T) n.278C>T 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=) | dbSNP gnomAD v4 |
| 2 | g.127421408T>A | CA348398114 | PROC | c.196T>A (p.Phe66Ile) c.*2T>A (n.*2T>A) n.279T>A 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) | |
| 2 | g.127421408T>C | CA348398115 | PROC | c.196T>C (p.Phe66Leu) c.*2T>C (n.*2T>C) n.279T>C 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) | |
| 2 | g.127421408T>G | CA348398113 | PROC | c.196T>G (p.Phe66Val) c.*2T>G (n.*2T>G) n.279T>G 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) | |
| 2 | g.127421409T>A | CA348398116 | PROC | c.197T>A (p.Phe66Tyr) c.*3T>A (n.*3T>A) n.280T>A 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) | |
| 2 | g.127421409T>C | CA348398117 | PROC | c.197T>C (p.Phe66Ser) c.*3T>C (n.*3T>C) n.280T>C 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) | |
| 2 | g.127421409T>G | CA348398118 | PROC | c.197T>G (p.Phe66Cys) c.*3T>G (n.*3T>G) n.280T>G 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) | |
| 2 | g.127421410C>A | CA348398119 | PROC | c.198C>A (p.Phe66Leu) c.*4C>A (n.*4C>A) n.281C>A 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) | |
| 2 | g.127421410C= | CA1286880911 | PROC | c.198C= (p.Phe66=) c.*4C= (n.*4C=) n.281C= c.381C= (p.Phe127=) c.261C= (p.Phe87=) c.441C= (p.Phe147=) c.282C= (p.Phe94=) c.174C= (p.Phe58=) c.192C= (p.Phe64=) | |
| 2 | g.127421410C>G | CA1859253 | PROC | c.198C>G (p.Phe66Leu) c.*4C>G (n.*4C>G) n.281C>G 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) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421410C>T | CA1859252 | PROC | c.198C>T (p.Phe66=) c.*4C>T (n.*4C>T) n.281C>T 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=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421411G>A | CA348398122 | PROC | c.199G>A (p.Glu67Lys) c.*5G>A (n.*5G>A) n.282G>A 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) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127421411G>C | CA348398120 | PROC | c.199G>C (p.Glu67Gln) c.*5G>C (n.*5G>C) n.282G>C 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) | |
| 2 | g.127421411G= | CA1286880914 | PROC | c.199G= (p.Glu67=) c.*5G= (n.*5G=) n.282G= c.382G= (p.Glu128=) c.262G= (p.Glu88=) c.442G= (p.Glu148=) c.283G= (p.Glu95=) c.175G= (p.Glu59=) c.193G= (p.Glu65=) | |
| 2 | g.127421411G>T | CA348398121 | PROC | c.199G>T (p.Glu67Ter) c.*5G>T (n.*5G>T) n.282G>T 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) | dbSNP |
| 2 | g.127421412A>C | CA348398123 | PROC | c.200A>C (p.Glu67Ala) c.*6A>C (n.*6A>C) n.283A>C 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) | |
| 2 | g.127421412A>G | CA348398124 | PROC | c.200A>G (p.Glu67Gly) c.*6A>G (n.*6A>G) n.283A>G 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) | |
| 2 | g.127421412A>T | CA348398125 | PROC | c.200A>T (p.Glu67Val) c.*6A>T (n.*6A>T) n.283A>T 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) | |
| 2 | g.127421413G>A | CA428617450 | PROC | c.201G>A (p.Glu67=) c.*7G>A (n.*7G>A) n.284G>A 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=) | |
| 2 | g.127421413G>C | CA348398126 | PROC | c.201G>C (p.Glu67Asp) c.*7G>C (n.*7G>C) n.284G>C c.384G>C (p.Glu128Asp) c.264G>C (p.Glu88Asp) c.444G>C (p.Glu148Asp) c.285G>C (p.Glu95Asp) c.177G>C (p.Glu59Asp) c.195G>C (p.Glu65Asp) | COSMIC |
| 2 | g.127421413G>T | CA348398127 | PROC | c.201G>T (p.Glu67Asp) c.*7G>T (n.*7G>T) n.284G>T c.384G>T (p.Glu128Asp) c.264G>T (p.Glu88Asp) c.444G>T (p.Glu148Asp) c.285G>T (p.Glu95Asp) c.177G>T (p.Glu59Asp) c.195G>T (p.Glu65Asp) | |
| 2 | g.127421414G>A | CA348398128 | PROC | c.202G>A (p.Glu68Lys) c.*8G>A (n.*8G>A) n.285G>A c.385G>A (p.Glu129Lys) c.265G>A (p.Glu89Lys) c.445G>A (p.Glu149Lys) c.286G>A (p.Glu96Lys) c.178G>A (p.Glu60Lys) c.196G>A (p.Glu66Lys) | dbSNP gnomAD v4 COSMIC |
| 2 | g.127421414G>C | CA348398130 | PROC | c.202G>C (p.Glu68Gln) c.*8G>C (n.*8G>C) n.285G>C c.385G>C (p.Glu129Gln) c.265G>C (p.Glu89Gln) c.445G>C (p.Glu149Gln) c.286G>C (p.Glu96Gln) c.178G>C (p.Glu60Gln) c.196G>C (p.Glu66Gln) | dbSNP |
| 2 | g.127421414G= | CA1286880921 | PROC | c.202G= (p.Glu68=) c.*8G= (n.*8G=) n.285G= c.385G= (p.Glu129=) c.265G= (p.Glu89=) c.445G= (p.Glu149=) c.286G= (p.Glu96=) c.178G= (p.Glu60=) c.196G= (p.Glu66=) | |
| 2 | g.127421414G>T | CA348398129 | PROC | c.202G>T (p.Glu68Ter) c.*8G>T (n.*8G>T) n.285G>T c.385G>T (p.Glu129Ter) c.265G>T (p.Glu89Ter) c.445G>T (p.Glu149Ter) c.286G>T (p.Glu96Ter) c.178G>T (p.Glu60Ter) c.196G>T (p.Glu66Ter) | |
| 2 | g.127421415A>C | CA348398131 | PROC | c.203A>C (p.Glu68Ala) c.*9A>C (n.*9A>C) n.286A>C c.386A>C (p.Glu129Ala) c.266A>C (p.Glu89Ala) c.446A>C (p.Glu149Ala) c.287A>C (p.Glu96Ala) c.179A>C (p.Glu60Ala) c.197A>C (p.Glu66Ala) | gnomAD v4 |
| 2 | g.127421415A>G | CA348398132 | PROC | c.203A>G (p.Glu68Gly) c.*9A>G (n.*9A>G) n.286A>G c.386A>G (p.Glu129Gly) c.266A>G (p.Glu89Gly) c.446A>G (p.Glu149Gly) c.287A>G (p.Glu96Gly) c.179A>G (p.Glu60Gly) c.197A>G (p.Glu66Gly) | |
| 2 | g.127421415A>T | CA348398133 | PROC | c.203A>T (p.Glu68Val) c.*9A>T (n.*9A>T) n.286A>T c.386A>T (p.Glu129Val) c.266A>T (p.Glu89Val) c.446A>T (p.Glu149Val) c.287A>T (p.Glu96Val) c.179A>T (p.Glu60Val) c.197A>T (p.Glu66Val) | |
| 2 | g.127421416G>A | CA1859254 | PROC | c.204G>A (p.Glu68=) c.*10G>A (n.*10G>A) n.287G>A c.387G>A (p.Glu129=) c.267G>A (p.Glu89=) c.447G>A (p.Glu149=) c.288G>A (p.Glu96=) c.180G>A (p.Glu60=) c.198G>A (p.Glu66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421416G>C | CA348398134 | PROC | c.204G>C (p.Glu68Asp) c.*10G>C (n.*10G>C) n.287G>C c.387G>C (p.Glu129Asp) c.267G>C (p.Glu89Asp) c.447G>C (p.Glu149Asp) c.288G>C (p.Glu96Asp) c.180G>C (p.Glu60Asp) c.198G>C (p.Glu66Asp) | |
| 2 | g.127421416G= | CA1286880923 | PROC | c.204G= (p.Glu68=) c.*10G= (n.*10G=) n.287G= c.387G= (p.Glu129=) c.267G= (p.Glu89=) c.447G= (p.Glu149=) c.288G= (p.Glu96=) c.180G= (p.Glu60=) c.198G= (p.Glu66=) |