WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74892729G>A | CA7662433 | MPI | c.414G>A (p.Met138Ile) c.264G>A (p.Met88Ile) c.*310G>A (n.*310G>A) c.354G>A (p.Met118Ile) c.255+1240G>A (n.255+1240G>A) n.445G>A c.372G>A (p.Met124Ile) c.375G>A (p.Met125Ile) c.378G>A (p.Met126Ile) n.523G>A c.324G>A (p.Met108Ile) c.471G>A (p.Met157Ile) c.402G>A (p.Met134Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892729G>C | CA393173474 | MPI | c.414G>C (p.Met138Ile) c.264G>C (p.Met88Ile) c.*310G>C (n.*310G>C) c.354G>C (p.Met118Ile) c.255+1240G>C (n.255+1240G>C) n.445G>C c.372G>C (p.Met124Ile) c.375G>C (p.Met125Ile) c.378G>C (p.Met126Ile) n.523G>C c.324G>C (p.Met108Ile) c.471G>C (p.Met157Ile) c.402G>C (p.Met134Ile) | |
| 15 | g.74892729G= | CA2187896828 | MPI | c.414G= (p.Met138=) c.264G= (p.Met88=) c.*310G= (n.*310G=) c.354G= (p.Met118=) c.255+1240G= (n.255+1240G=) n.445G= c.372G= (p.Met124=) c.375G= (p.Met125=) c.378G= (p.Met126=) n.523G= c.324G= (p.Met108=) c.471G= (p.Met157=) c.402G= (p.Met134=) | |
| 15 | g.74892729G>T | CA393173475 | MPI | c.414G>T (p.Met138Ile) c.264G>T (p.Met88Ile) c.*310G>T (n.*310G>T) c.354G>T (p.Met118Ile) c.255+1240G>T (n.255+1240G>T) n.445G>T c.372G>T (p.Met124Ile) c.375G>T (p.Met125Ile) c.378G>T (p.Met126Ile) n.523G>T c.324G>T (p.Met108Ile) c.471G>T (p.Met157Ile) c.402G>T (p.Met134Ile) | |
| 15 | g.74892730G>A | CA393173476 | MPI | c.415G>A (p.Ala139Thr) c.265G>A (p.Ala89Thr) c.*311G>A (n.*311G>A) c.355G>A (p.Ala119Thr) c.255+1241G>A (n.255+1241G>A) n.446G>A c.373G>A (p.Ala125Thr) c.376G>A (p.Ala126Thr) c.379G>A (p.Ala127Thr) n.524G>A c.325G>A (p.Ala109Thr) c.472G>A (p.Ala158Thr) c.403G>A (p.Ala135Thr) | |
| 15 | g.74892730G>C | CA393173477 | MPI | c.415G>C (p.Ala139Pro) c.265G>C (p.Ala89Pro) c.*311G>C (n.*311G>C) c.355G>C (p.Ala119Pro) c.255+1241G>C (n.255+1241G>C) n.446G>C c.373G>C (p.Ala125Pro) c.376G>C (p.Ala126Pro) c.379G>C (p.Ala127Pro) n.524G>C c.325G>C (p.Ala109Pro) c.472G>C (p.Ala158Pro) c.403G>C (p.Ala135Pro) | |
| 15 | g.74892730G>T | CA393173478 | MPI | c.415G>T (p.Ala139Ser) c.265G>T (p.Ala89Ser) c.*311G>T (n.*311G>T) c.355G>T (p.Ala119Ser) c.255+1241G>T (n.255+1241G>T) n.446G>T c.373G>T (p.Ala125Ser) c.376G>T (p.Ala126Ser) c.379G>T (p.Ala127Ser) n.524G>T c.325G>T (p.Ala109Ser) c.472G>T (p.Ala158Ser) c.403G>T (p.Ala135Ser) | |
| 15 | g.74892731C>A | CA393173479 | MPI | c.416C>A (p.Ala139Asp) c.266C>A (p.Ala89Asp) c.*312C>A (n.*312C>A) c.356C>A (p.Ala119Asp) c.255+1242C>A (n.255+1242C>A) n.447C>A c.374C>A (p.Ala125Asp) c.377C>A (p.Ala126Asp) c.380C>A (p.Ala127Asp) n.525C>A c.326C>A (p.Ala109Asp) c.473C>A (p.Ala158Asp) c.404C>A (p.Ala135Asp) | |
| 15 | g.74892731C>G | CA393173480 | MPI | c.416C>G (p.Ala139Gly) c.266C>G (p.Ala89Gly) c.*312C>G (n.*312C>G) c.356C>G (p.Ala119Gly) c.255+1242C>G (n.255+1242C>G) n.447C>G c.374C>G (p.Ala125Gly) c.377C>G (p.Ala126Gly) c.380C>G (p.Ala127Gly) n.525C>G c.326C>G (p.Ala109Gly) c.473C>G (p.Ala158Gly) c.404C>G (p.Ala135Gly) | |
| 15 | g.74892731C>T | CA393173481 | MPI | c.416C>T (p.Ala139Val) c.266C>T (p.Ala89Val) c.*312C>T (n.*312C>T) c.356C>T (p.Ala119Val) c.255+1242C>T (n.255+1242C>T) n.447C>T c.374C>T (p.Ala125Val) c.377C>T (p.Ala126Val) c.380C>T (p.Ala127Val) n.525C>T c.326C>T (p.Ala109Val) c.473C>T (p.Ala158Val) c.404C>T (p.Ala135Val) | |
| 15 | g.74892732dup | CA2629529443 | MPI | c.417dup (p.Ile140HisfsTer16) c.267dup (p.Ile90HisfsTer16) c.*313dup (n.*313dup) c.357dup (p.Ile120HisfsTer16) c.255+1243dup (n.255+1243dup) n.448dup c.375dup (p.Ile126HisfsTer16) c.378dup (p.Ile127HisfsTer16) c.357dup c.381dup (p.Ile128HisfsTer16) n.526dup c.327dup (p.Ile110HisfsTer16) c.474dup (p.Ile159HisfsTer16) c.405dup (p.Ile136HisfsTer16) | gnomAD v4 |
| 15 | g.74892732C>A | CA491220355 | MPI | c.417C>A (p.Ala139=) c.267C>A (p.Ala89=) c.*313C>A (n.*313C>A) c.357C>A (p.Ala119=) c.255+1243C>A (n.255+1243C>A) n.448C>A c.375C>A (p.Ala125=) c.378C>A (p.Ala126=) c.381C>A (p.Ala127=) n.526C>A c.327C>A (p.Ala109=) c.474C>A (p.Ala158=) c.405C>A (p.Ala135=) | |
| 15 | g.74892732C= | CA2187896830 | MPI | c.417C= (p.Ala139=) c.267C= (p.Ala89=) c.*313C= (n.*313C=) c.357C= (p.Ala119=) c.255+1243C= (n.255+1243C=) n.448C= c.375C= (p.Ala125=) c.378C= (p.Ala126=) c.381C= (p.Ala127=) n.526C= c.327C= (p.Ala109=) c.474C= (p.Ala158=) c.405C= (p.Ala135=) | |
| 15 | g.74892732C>G | CA491220357 | MPI | c.417C>G (p.Ala139=) c.267C>G (p.Ala89=) c.*313C>G (n.*313C>G) c.357C>G (p.Ala119=) c.255+1243C>G (n.255+1243C>G) n.448C>G c.375C>G (p.Ala125=) c.378C>G (p.Ala126=) c.381C>G (p.Ala127=) n.526C>G c.327C>G (p.Ala109=) c.474C>G (p.Ala158=) c.405C>G (p.Ala135=) | |
| 15 | g.74892732C>T | CA7662434 | MPI | c.417C>T (p.Ala139=) c.267C>T (p.Ala89=) c.*313C>T (n.*313C>T) c.357C>T (p.Ala119=) c.255+1243C>T (n.255+1243C>T) n.448C>T c.375C>T (p.Ala125=) c.378C>T (p.Ala126=) c.381C>T (p.Ala127=) n.526C>T c.327C>T (p.Ala109=) c.474C>T (p.Ala158=) c.405C>T (p.Ala135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892733A= | CA2187896832 | MPI | c.418A= (p.Ile140=) c.268A= (p.Ile90=) c.*314A= (n.*314A=) c.358A= (p.Ile120=) c.255+1244A= (n.255+1244A=) n.449A= c.376A= (p.Ile126=) c.379A= (p.Ile127=) c.358A= c.382A= (p.Ile128=) n.527A= c.328A= (p.Ile110=) c.475A= (p.Ile159=) c.406A= (p.Ile136=) | |
| 15 | g.74892733A>C | CA393173483 | MPI | c.418A>C (p.Ile140Leu) c.268A>C (p.Ile90Leu) c.*314A>C (n.*314A>C) c.358A>C (p.Ile120Leu) c.255+1244A>C (n.255+1244A>C) n.449A>C c.376A>C (p.Ile126Leu) c.379A>C (p.Ile127Leu) c.358A>C c.382A>C (p.Ile128Leu) n.527A>C c.328A>C (p.Ile110Leu) c.475A>C (p.Ile159Leu) c.406A>C (p.Ile136Leu) | |
| 15 | g.74892733A>G | CA272823200 | MPI | c.418A>G (p.Ile140Val) c.268A>G (p.Ile90Val) c.*314A>G (n.*314A>G) c.358A>G (p.Ile120Val) c.255+1244A>G (n.255+1244A>G) n.449A>G c.376A>G (p.Ile126Val) c.379A>G (p.Ile127Val) c.358A>G c.382A>G (p.Ile128Val) n.527A>G c.328A>G (p.Ile110Val) c.475A>G (p.Ile159Val) c.406A>G (p.Ile136Val) | dbSNP gnomAD v4 |
| 15 | g.74892733A>T | CA393173482 | MPI | c.418A>T (p.Ile140Phe) c.268A>T (p.Ile90Phe) c.*314A>T (n.*314A>T) c.358A>T (p.Ile120Phe) c.255+1244A>T (n.255+1244A>T) n.449A>T c.376A>T (p.Ile126Phe) c.379A>T (p.Ile127Phe) c.358A>T c.382A>T (p.Ile128Phe) n.527A>T c.328A>T (p.Ile110Phe) c.475A>T (p.Ile159Phe) c.406A>T (p.Ile136Phe) | |
| 15 | g.74892734T>A | CA393173484 | MPI | c.419T>A (p.Ile140Asn) c.269T>A (p.Ile90Asn) c.*315T>A (n.*315T>A) c.359T>A (p.Ile120Asn) c.255+1245T>A (n.255+1245T>A) n.450T>A c.377T>A (p.Ile126Asn) c.380T>A (p.Ile127Asn) c.383T>A (p.Ile128Asn) n.528T>A c.329T>A (p.Ile110Asn) c.476T>A (p.Ile159Asn) c.407T>A (p.Ile136Asn) | |
| 15 | g.74892734T>C | CA7662435 | MPI | c.419T>C (p.Ile140Thr) c.269T>C (p.Ile90Thr) c.*315T>C (n.*315T>C) c.359T>C (p.Ile120Thr) c.255+1245T>C (n.255+1245T>C) n.450T>C c.377T>C (p.Ile126Thr) c.380T>C (p.Ile127Thr) c.383T>C (p.Ile128Thr) n.528T>C c.329T>C (p.Ile110Thr) c.476T>C (p.Ile159Thr) c.407T>C (p.Ile136Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74892734T>G | CA393173485 | MPI | c.419T>G (p.Ile140Ser) c.269T>G (p.Ile90Ser) c.*315T>G (n.*315T>G) c.359T>G (p.Ile120Ser) c.255+1245T>G (n.255+1245T>G) n.450T>G c.377T>G (p.Ile126Ser) c.380T>G (p.Ile127Ser) c.383T>G (p.Ile128Ser) n.528T>G c.329T>G (p.Ile110Ser) c.476T>G (p.Ile159Ser) c.407T>G (p.Ile136Ser) | |
| 15 | g.74892734T= | CA2187896835 | MPI | c.419T= (p.Ile140=) c.269T= (p.Ile90=) c.*315T= (n.*315T=) c.359T= (p.Ile120=) c.255+1245T= (n.255+1245T=) n.450T= c.377T= (p.Ile126=) c.380T= (p.Ile127=) c.383T= (p.Ile128=) n.528T= c.329T= (p.Ile110=) c.476T= (p.Ile159=) c.407T= (p.Ile136=) | |
| 15 | g.74892735T>A | CA491220358 | MPI | c.420T>A (p.Ile140=) c.270T>A (p.Ile90=) c.*316T>A (n.*316T>A) c.360T>A (p.Ile120=) c.255+1246T>A (n.255+1246T>A) n.451T>A c.378T>A (p.Ile126=) c.381T>A (p.Ile127=) c.384T>A (p.Ile128=) n.529T>A c.330T>A (p.Ile110=) c.477T>A (p.Ile159=) c.408T>A (p.Ile136=) | |
| 15 | g.74892735T>C | CA491220359 | MPI | c.420T>C (p.Ile140=) c.270T>C (p.Ile90=) c.*316T>C (n.*316T>C) c.360T>C (p.Ile120=) c.255+1246T>C (n.255+1246T>C) n.451T>C c.378T>C (p.Ile126=) c.381T>C (p.Ile127=) c.384T>C (p.Ile128=) n.529T>C c.330T>C (p.Ile110=) c.477T>C (p.Ile159=) c.408T>C (p.Ile136=) | |
| 15 | g.74892735T>G | CA393173486 | MPI | c.420T>G (p.Ile140Met) c.270T>G (p.Ile90Met) c.*316T>G (n.*316T>G) c.360T>G (p.Ile120Met) c.255+1246T>G (n.255+1246T>G) n.451T>G c.378T>G (p.Ile126Met) c.381T>G (p.Ile127Met) c.384T>G (p.Ile128Met) n.529T>G c.330T>G (p.Ile110Met) c.477T>G (p.Ile159Met) c.408T>G (p.Ile136Met) | |
| 15 | g.74892736G>A | CA393173487 | MPI | c.421G>A (p.Ala141Thr) c.271G>A (p.Ala91Thr) c.*317G>A (n.*317G>A) c.361G>A (p.Ala121Thr) c.255+1247G>A (n.255+1247G>A) n.452G>A c.379G>A (p.Ala127Thr) c.382G>A (p.Ala128Thr) c.385G>A (p.Ala129Thr) n.530G>A c.331G>A (p.Ala111Thr) c.478G>A (p.Ala160Thr) c.409G>A (p.Ala137Thr) | COSMIC |
| 15 | g.74892736G>C | CA393173488 | MPI | c.421G>C (p.Ala141Pro) c.271G>C (p.Ala91Pro) c.*317G>C (n.*317G>C) c.361G>C (p.Ala121Pro) c.255+1247G>C (n.255+1247G>C) n.452G>C c.379G>C (p.Ala127Pro) c.382G>C (p.Ala128Pro) c.385G>C (p.Ala129Pro) n.530G>C c.331G>C (p.Ala111Pro) c.478G>C (p.Ala160Pro) c.409G>C (p.Ala137Pro) | |
| 15 | g.74892736G>T | CA393173489 | MPI | c.421G>T (p.Ala141Ser) c.271G>T (p.Ala91Ser) c.*317G>T (n.*317G>T) c.361G>T (p.Ala121Ser) c.255+1247G>T (n.255+1247G>T) n.452G>T c.379G>T (p.Ala127Ser) c.382G>T (p.Ala128Ser) c.385G>T (p.Ala129Ser) n.530G>T c.331G>T (p.Ala111Ser) c.478G>T (p.Ala160Ser) c.409G>T (p.Ala137Ser) | |
| 15 | g.74892737C>A | CA393173490 | MPI | c.422C>A (p.Ala141Asp) c.272C>A (p.Ala91Asp) c.*318C>A (n.*318C>A) c.362C>A (p.Ala121Asp) c.255+1248C>A (n.255+1248C>A) n.453C>A c.380C>A (p.Ala127Asp) c.383C>A (p.Ala128Asp) c.386C>A (p.Ala129Asp) n.531C>A c.332C>A (p.Ala111Asp) c.479C>A (p.Ala160Asp) c.410C>A (p.Ala137Asp) | |
| 15 | g.74892737C>G | CA393173491 | MPI | c.422C>G (p.Ala141Gly) c.272C>G (p.Ala91Gly) c.*318C>G (n.*318C>G) c.362C>G (p.Ala121Gly) c.255+1248C>G (n.255+1248C>G) n.453C>G c.380C>G (p.Ala127Gly) c.383C>G (p.Ala128Gly) c.386C>G (p.Ala129Gly) n.531C>G c.332C>G (p.Ala111Gly) c.479C>G (p.Ala160Gly) c.410C>G (p.Ala137Gly) | |
| 15 | g.74892737C>T | CA393173492 | MPI | c.422C>T (p.Ala141Val) c.272C>T (p.Ala91Val) c.*318C>T (n.*318C>T) c.362C>T (p.Ala121Val) c.255+1248C>T (n.255+1248C>T) n.453C>T c.380C>T (p.Ala127Val) c.383C>T (p.Ala128Val) c.386C>T (p.Ala129Val) n.531C>T c.332C>T (p.Ala111Val) c.479C>T (p.Ala160Val) c.410C>T (p.Ala137Val) | |
| 15 | g.74892738C>A | CA7662436 | MPI | c.423C>A (p.Ala141=) c.273C>A (p.Ala91=) c.*319C>A (n.*319C>A) c.363C>A (p.Ala121=) c.255+1249C>A (n.255+1249C>A) n.454C>A c.381C>A (p.Ala127=) c.384C>A (p.Ala128=) c.387C>A (p.Ala129=) n.532C>A c.333C>A (p.Ala111=) c.480C>A (p.Ala160=) c.411C>A (p.Ala137=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74892738C= | CA2187896837 | MPI | c.423C= (p.Ala141=) c.273C= (p.Ala91=) c.*319C= (n.*319C=) c.363C= (p.Ala121=) c.255+1249C= (n.255+1249C=) n.454C= c.381C= (p.Ala127=) c.384C= (p.Ala128=) c.387C= (p.Ala129=) n.532C= c.333C= (p.Ala111=) c.480C= (p.Ala160=) c.411C= (p.Ala137=) | |
| 15 | g.74892738C>G | CA491220364 | MPI | c.423C>G (p.Ala141=) c.273C>G (p.Ala91=) c.*319C>G (n.*319C>G) c.363C>G (p.Ala121=) c.255+1249C>G (n.255+1249C>G) n.454C>G c.381C>G (p.Ala127=) c.384C>G (p.Ala128=) c.387C>G (p.Ala129=) n.532C>G c.333C>G (p.Ala111=) c.480C>G (p.Ala160=) c.411C>G (p.Ala137=) | |
| 15 | g.74892738C>T | CA491220363 | MPI | c.423C>T (p.Ala141=) c.273C>T (p.Ala91=) c.*319C>T (n.*319C>T) c.363C>T (p.Ala121=) c.255+1249C>T (n.255+1249C>T) n.454C>T c.381C>T (p.Ala127=) c.384C>T (p.Ala128=) c.387C>T (p.Ala129=) n.532C>T c.333C>T (p.Ala111=) c.480C>T (p.Ala160=) c.411C>T (p.Ala137=) | |
| 15 | g.74892739C>A | CA393173493 | MPI | c.424C>A (p.Leu142Ile) c.274C>A (p.Leu92Ile) c.*320C>A (n.*320C>A) c.364C>A (p.Leu122Ile) c.255+1250C>A (n.255+1250C>A) n.455C>A c.382C>A (p.Leu128Ile) c.385C>A (p.Leu129Ile) c.388C>A (p.Leu130Ile) n.533C>A c.334C>A (p.Leu112Ile) c.481C>A (p.Leu161Ile) c.412C>A (p.Leu138Ile) | |
| 15 | g.74892739C>G | CA393173494 | MPI | c.424C>G (p.Leu142Val) c.274C>G (p.Leu92Val) c.*320C>G (n.*320C>G) c.364C>G (p.Leu122Val) c.255+1250C>G (n.255+1250C>G) n.455C>G c.382C>G (p.Leu128Val) c.385C>G (p.Leu129Val) c.388C>G (p.Leu130Val) n.533C>G c.334C>G (p.Leu112Val) c.481C>G (p.Leu161Val) c.412C>G (p.Leu138Val) | |
| 15 | g.74892739C>T | CA393173495 | MPI | c.424C>T (p.Leu142Phe) c.274C>T (p.Leu92Phe) c.*320C>T (n.*320C>T) c.364C>T (p.Leu122Phe) c.255+1250C>T (n.255+1250C>T) n.455C>T c.382C>T (p.Leu128Phe) c.385C>T (p.Leu129Phe) c.388C>T (p.Leu130Phe) n.533C>T c.334C>T (p.Leu112Phe) c.481C>T (p.Leu161Phe) c.412C>T (p.Leu138Phe) | |
| 15 | g.74892740T>A | CA393173498 | MPI | c.425T>A (p.Leu142His) c.275T>A (p.Leu92His) c.*321T>A (n.*321T>A) c.365T>A (p.Leu122His) c.255+1251T>A (n.255+1251T>A) n.456T>A c.383T>A (p.Leu128His) c.386T>A (p.Leu129His) c.389T>A (p.Leu130His) n.534T>A c.335T>A (p.Leu112His) c.482T>A (p.Leu161His) c.413T>A (p.Leu138His) | |
| 15 | g.74892740T>C | CA393173497 | MPI | c.425T>C (p.Leu142Pro) c.275T>C (p.Leu92Pro) c.*321T>C (n.*321T>C) c.365T>C (p.Leu122Pro) c.255+1251T>C (n.255+1251T>C) n.456T>C c.383T>C (p.Leu128Pro) c.386T>C (p.Leu129Pro) c.389T>C (p.Leu130Pro) n.534T>C c.335T>C (p.Leu112Pro) c.482T>C (p.Leu161Pro) c.413T>C (p.Leu138Pro) | |
| 15 | g.74892740T>G | CA393173496 | MPI | c.425T>G (p.Leu142Arg) c.275T>G (p.Leu92Arg) c.*321T>G (n.*321T>G) c.365T>G (p.Leu122Arg) c.255+1251T>G (n.255+1251T>G) n.456T>G c.383T>G (p.Leu128Arg) c.386T>G (p.Leu129Arg) c.389T>G (p.Leu130Arg) n.534T>G c.335T>G (p.Leu112Arg) c.482T>G (p.Leu161Arg) c.413T>G (p.Leu138Arg) | |
| 15 | g.74892741C>A | CA491220365 | MPI | c.426C>A (p.Leu142=) c.276C>A (p.Leu92=) c.*322C>A (n.*322C>A) c.366C>A (p.Leu122=) c.255+1252C>A (n.255+1252C>A) n.457C>A c.384C>A (p.Leu128=) c.387C>A (p.Leu129=) c.390C>A (p.Leu130=) n.535C>A c.336C>A (p.Leu112=) c.483C>A (p.Leu161=) c.414C>A (p.Leu138=) | |
| 15 | g.74892741C>G | CA491220366 | MPI | c.426C>G (p.Leu142=) c.276C>G (p.Leu92=) c.*322C>G (n.*322C>G) c.366C>G (p.Leu122=) c.255+1252C>G (n.255+1252C>G) n.457C>G c.384C>G (p.Leu128=) c.387C>G (p.Leu129=) c.390C>G (p.Leu130=) n.535C>G c.336C>G (p.Leu112=) c.483C>G (p.Leu161=) c.414C>G (p.Leu138=) | ClinVar gnomAD v4 |
| 15 | g.74892741C>T | CA491220367 | MPI | c.426C>T (p.Leu142=) c.276C>T (p.Leu92=) c.*322C>T (n.*322C>T) c.366C>T (p.Leu122=) c.255+1252C>T (n.255+1252C>T) n.457C>T c.384C>T (p.Leu128=) c.387C>T (p.Leu129=) c.390C>T (p.Leu130=) n.535C>T c.336C>T (p.Leu112=) c.483C>T (p.Leu161=) c.414C>T (p.Leu138=) | |
| 15 | g.74892742A>C | CA393173499 | MPI | c.427A>C (p.Thr143Pro) c.277A>C (p.Thr93Pro) c.*323A>C (n.*323A>C) c.367A>C (p.Thr123Pro) c.255+1253A>C (n.255+1253A>C) n.458A>C c.385A>C (p.Thr129Pro) c.388A>C (p.Thr130Pro) c.391A>C (p.Thr131Pro) n.536A>C c.337A>C (p.Thr113Pro) c.484A>C (p.Thr162Pro) c.415A>C (p.Thr139Pro) | |
| 15 | g.74892742A>G | CA393173500 | MPI | c.427A>G (p.Thr143Ala) c.277A>G (p.Thr93Ala) c.*323A>G (n.*323A>G) c.367A>G (p.Thr123Ala) c.255+1253A>G (n.255+1253A>G) n.458A>G c.385A>G (p.Thr129Ala) c.388A>G (p.Thr130Ala) c.391A>G (p.Thr131Ala) n.536A>G c.337A>G (p.Thr113Ala) c.484A>G (p.Thr162Ala) c.415A>G (p.Thr139Ala) | gnomAD v4 |
| 15 | g.74892742A>T | CA393173501 | MPI | c.427A>T (p.Thr143Ser) c.277A>T (p.Thr93Ser) c.*323A>T (n.*323A>T) c.367A>T (p.Thr123Ser) c.255+1253A>T (n.255+1253A>T) n.458A>T c.385A>T (p.Thr129Ser) c.388A>T (p.Thr130Ser) c.391A>T (p.Thr131Ser) n.536A>T c.337A>T (p.Thr113Ser) c.484A>T (p.Thr162Ser) c.415A>T (p.Thr139Ser) | |
| 15 | g.74892743C>A | CA393173502 | MPI | c.428C>A (p.Thr143Asn) c.278C>A (p.Thr93Asn) c.*324C>A (n.*324C>A) c.368C>A (p.Thr123Asn) c.255+1254C>A (n.255+1254C>A) n.459C>A c.386C>A (p.Thr129Asn) c.389C>A (p.Thr130Asn) c.392C>A (p.Thr131Asn) n.537C>A c.338C>A (p.Thr113Asn) c.485C>A (p.Thr162Asn) c.416C>A (p.Thr139Asn) | gnomAD v4 |
| 15 | g.74892743C>G | CA393173503 | MPI | c.428C>G (p.Thr143Ser) c.278C>G (p.Thr93Ser) c.*324C>G (n.*324C>G) c.368C>G (p.Thr123Ser) c.255+1254C>G (n.255+1254C>G) n.459C>G c.386C>G (p.Thr129Ser) c.389C>G (p.Thr130Ser) c.392C>G (p.Thr131Ser) n.537C>G c.338C>G (p.Thr113Ser) c.485C>G (p.Thr162Ser) c.416C>G (p.Thr139Ser) |