| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 2 | g.127421416G>T | CA348398135 | PROC | c.204G>T (p.Glu68Asp) c.*10G>T (n.*10G>T) n.287G>T c.387G>T (p.Glu129Asp) c.267G>T (p.Glu89Asp) c.447G>T (p.Glu149Asp) c.288G>T (p.Glu96Asp) c.180G>T (p.Glu60Asp) c.198G>T (p.Glu66Asp) | |
| 2 | g.127421417G>A | CA348398136 | PROC | c.205G>A (p.Ala69Thr) c.*11G>A (n.*11G>A) n.288G>A c.388G>A (p.Ala130Thr) c.268G>A (p.Ala90Thr) c.448G>A (p.Ala150Thr) c.289G>A (p.Ala97Thr) c.181G>A (p.Ala61Thr) c.199G>A (p.Ala67Thr) | ClinVar dbSNP |
| 2 | g.127421417G>C | CA348398137 | PROC | c.205G>C (p.Ala69Pro) c.*11G>C (n.*11G>C) n.288G>C c.388G>C (p.Ala130Pro) c.268G>C (p.Ala90Pro) c.448G>C (p.Ala150Pro) c.289G>C (p.Ala97Pro) c.181G>C (p.Ala61Pro) c.199G>C (p.Ala67Pro) | |
| 2 | g.127421417G>T | CA348398138 | PROC | c.205G>T (p.Ala69Ser) c.*11G>T (n.*11G>T) n.288G>T c.388G>T (p.Ala130Ser) c.268G>T (p.Ala90Ser) c.448G>T (p.Ala150Ser) c.289G>T (p.Ala97Ser) c.181G>T (p.Ala61Ser) c.199G>T (p.Ala67Ser) | |
| 2 | g.127421418C>A | CA348398139 | PROC | c.206C>A (p.Ala69Asp) c.*12C>A (n.*12C>A) n.289C>A c.389C>A (p.Ala130Asp) c.269C>A (p.Ala90Asp) c.449C>A (p.Ala150Asp) c.290C>A (p.Ala97Asp) c.182C>A (p.Ala61Asp) c.200C>A (p.Ala67Asp) | |
| 2 | g.127421418C= | CA1286880926 | PROC | c.206C= (p.Ala69=) c.*12C= (n.*12C=) n.289C= c.389C= (p.Ala130=) c.269C= (p.Ala90=) c.449C= (p.Ala150=) c.290C= (p.Ala97=) c.182C= (p.Ala61=) c.200C= (p.Ala67=) | |
| 2 | g.127421418C>G | CA348398140 | PROC | c.206C>G (p.Ala69Gly) c.*12C>G (n.*12C>G) n.289C>G c.389C>G (p.Ala130Gly) c.269C>G (p.Ala90Gly) c.449C>G (p.Ala150Gly) c.290C>G (p.Ala97Gly) c.182C>G (p.Ala61Gly) c.200C>G (p.Ala67Gly) | |
| 2 | g.127421418C>T | CA55343052 | PROC | c.206C>T (p.Ala69Val) c.*12C>T (n.*12C>T) n.289C>T c.389C>T (p.Ala130Val) c.269C>T (p.Ala90Val) c.449C>T (p.Ala150Val) c.290C>T (p.Ala97Val) c.182C>T (p.Ala61Val) c.200C>T (p.Ala67Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127421419C>A | CA428617451 | PROC | c.207C>A (p.Ala69=) c.*13C>A (n.*13C>A) n.290C>A c.390C>A (p.Ala130=) c.270C>A (p.Ala90=) c.450C>A (p.Ala150=) c.291C>A (p.Ala97=) c.183C>A (p.Ala61=) c.201C>A (p.Ala67=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127421419C= | CA1286880932 | PROC | c.207C= (p.Ala69=) c.*13C= (n.*13C=) n.290C= c.390C= (p.Ala130=) c.270C= (p.Ala90=) c.450C= (p.Ala150=) c.291C= (p.Ala97=) c.183C= (p.Ala61=) c.201C= (p.Ala67=) | |
| 2 | g.127421419C>G | CA428617452 | PROC | c.207C>G (p.Ala69=) c.*13C>G (n.*13C>G) n.290C>G c.390C>G (p.Ala130=) c.270C>G (p.Ala90=) c.450C>G (p.Ala150=) c.291C>G (p.Ala97=) c.183C>G (p.Ala61=) c.201C>G (p.Ala67=) | |
| 2 | g.127421419C>T | CA428617453 | PROC | c.207C>T (p.Ala69=) c.*13C>T (n.*13C>T) n.290C>T c.390C>T (p.Ala130=) c.270C>T (p.Ala90=) c.450C>T (p.Ala150=) c.291C>T (p.Ala97=) c.183C>T (p.Ala61=) c.201C>T (p.Ala67=) | |
| 2 | g.127421420A= | CA1286880936 | PROC | c.208A= (p.Lys70=) c.*14A= (n.*14A=) n.291A= c.391A= (p.Lys131=) c.271A= (p.Lys91=) c.451A= (p.Lys151=) c.292A= (p.Lys98=) c.184A= (p.Lys62=) c.202A= (p.Lys68=) | |
| 2 | g.127421420A>C | CA348398142 | PROC | c.208A>C (p.Lys70Gln) c.*14A>C (n.*14A>C) n.291A>C c.391A>C (p.Lys131Gln) c.271A>C (p.Lys91Gln) c.451A>C (p.Lys151Gln) c.292A>C (p.Lys98Gln) c.184A>C (p.Lys62Gln) c.202A>C (p.Lys68Gln) | |
| 2 | g.127421420A>G | CA55343075 | PROC | c.208A>G (p.Lys70Glu) c.*14A>G (n.*14A>G) n.291A>G c.391A>G (p.Lys131Glu) c.271A>G (p.Lys91Glu) c.451A>G (p.Lys151Glu) c.292A>G (p.Lys98Glu) c.184A>G (p.Lys62Glu) c.202A>G (p.Lys68Glu) | ClinVar dbSNP |
| 2 | g.127421420A>T | CA348398141 | PROC | c.208A>T (p.Lys70Ter) c.*14A>T (n.*14A>T) n.291A>T c.391A>T (p.Lys131Ter) c.271A>T (p.Lys91Ter) c.451A>T (p.Lys151Ter) c.292A>T (p.Lys98Ter) c.184A>T (p.Lys62Ter) c.202A>T (p.Lys68Ter) | |
| 2 | g.127421421del | CA2586969846 | PROC | c.209del (p.Lys70ArgfsTer?) c.*15del (n.*15del) n.292del c.392del (p.Lys131ArgfsTer?) c.272del (p.Lys91ArgfsTer?) c.452del (p.Lys151ArgfsTer?) c.272del (p.Lys91ArgfsTer23) c.293del (p.Lys98ArgfsTer?) c.185del (p.Lys62ArgfsTer?) c.203del (p.Lys68ArgfsTer?) | |
| 2 | g.127421421A= | CA1286880939 | PROC | c.209A= (p.Lys70=) c.*15A= (n.*15A=) n.292A= c.392A= (p.Lys131=) c.272A= (p.Lys91=) c.452A= (p.Lys151=) c.293A= (p.Lys98=) c.185A= (p.Lys62=) c.203A= (p.Lys68=) | |
| 2 | g.127421421A>C | CA348398143 | PROC | c.209A>C (p.Lys70Thr) c.*15A>C (n.*15A>C) n.292A>C c.392A>C (p.Lys131Thr) c.272A>C (p.Lys91Thr) c.452A>C (p.Lys151Thr) c.293A>C (p.Lys98Thr) c.185A>C (p.Lys62Thr) c.203A>C (p.Lys68Thr) | |
| 2 | g.127421421A>G | CA1859255 | PROC | c.209A>G (p.Lys70Arg) c.*15A>G (n.*15A>G) n.292A>G c.392A>G (p.Lys131Arg) c.272A>G (p.Lys91Arg) c.452A>G (p.Lys151Arg) c.293A>G (p.Lys98Arg) c.185A>G (p.Lys62Arg) c.203A>G (p.Lys68Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421421A>T | CA55343086 | PROC | c.209A>T (p.Lys70Met) c.*15A>T (n.*15A>T) n.292A>T c.392A>T (p.Lys131Met) c.272A>T (p.Lys91Met) c.452A>T (p.Lys151Met) c.293A>T (p.Lys98Met) c.185A>T (p.Lys62Met) c.203A>T (p.Lys68Met) | dbSNP |
| 2 | g.127421422G>A | CA428617454 | PROC | c.210G>A (p.Lys70=) c.*16G>A (n.*16G>A) n.293G>A c.393G>A (p.Lys131=) c.273G>A (p.Lys91=) c.453G>A (p.Lys151=) c.294G>A (p.Lys98=) c.186G>A (p.Lys62=) c.204G>A (p.Lys68=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127421422G>C | CA348398144 | PROC | c.210G>C (p.Lys70Asn) c.*16G>C (n.*16G>C) n.293G>C c.393G>C (p.Lys131Asn) c.273G>C (p.Lys91Asn) c.453G>C (p.Lys151Asn) c.294G>C (p.Lys98Asn) c.186G>C (p.Lys62Asn) c.204G>C (p.Lys68Asn) | |
| 2 | g.127421422G= | CA1286880942 | PROC | c.210G= (p.Lys70=) c.*16G= (n.*16G=) n.293G= c.393G= (p.Lys131=) c.273G= (p.Lys91=) c.453G= (p.Lys151=) c.294G= (p.Lys98=) c.186G= (p.Lys62=) c.204G= (p.Lys68=) | |
| 2 | g.127421422G>T | CA348398145 | PROC | c.210G>T (p.Lys70Asn) c.*16G>T (n.*16G>T) n.293G>T c.393G>T (p.Lys131Asn) c.273G>T (p.Lys91Asn) c.453G>T (p.Lys151Asn) c.294G>T (p.Lys98Asn) c.186G>T (p.Lys62Asn) c.204G>T (p.Lys68Asn) | |
| 2 | g.127421423G>A | CA348398146 | PROC | c.211G>A (p.Glu71Lys) c.*17G>A (n.*17G>A) n.294G>A c.394G>A (p.Glu132Lys) c.274G>A (p.Glu92Lys) c.454G>A (p.Glu152Lys) c.295G>A (p.Glu99Lys) c.187G>A (p.Glu63Lys) c.205G>A (p.Glu69Lys) | COSMIC |