| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124397976A= | CA1942335643 | OAT | c.1286T= (p.Ile429=) c.872T= (p.Ile291=) c.965T= (p.Ile322=) c.686T= (p.Ile229=) | |
| 10 | g.124397976A>C | CA378633024 | OAT | c.1286T>G (p.Ile429Ser) c.872T>G (p.Ile291Ser) c.965T>G (p.Ile322Ser) c.686T>G (p.Ile229Ser) | |
| 10 | g.124397976A>G | CA5733277 | OAT | c.1286T>C (p.Ile429Thr) c.872T>C (p.Ile291Thr) c.965T>C (p.Ile322Thr) c.686T>C (p.Ile229Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397976A>T | CA378633025 | OAT | c.1286T>A (p.Ile429Asn) c.872T>A (p.Ile291Asn) c.965T>A (p.Ile322Asn) c.686T>A (p.Ile229Asn) | |
| 10 | g.124397977T>A | CA378633026 | OAT | c.1285A>T (p.Ile429Phe) c.871A>T (p.Ile291Phe) c.964A>T (p.Ile322Phe) c.685A>T (p.Ile229Phe) | gnomAD v4 |
| 10 | g.124397977T>C | CA378633028 | OAT | c.1285A>G (p.Ile429Val) c.871A>G (p.Ile291Val) c.964A>G (p.Ile322Val) c.685A>G (p.Ile229Val) | ClinVar gnomAD v4 |
| 10 | g.124397977T>G | CA378633027 | OAT | c.1285A>C (p.Ile429Leu) c.871A>C (p.Ile291Leu) c.964A>C (p.Ile322Leu) c.685A>C (p.Ile229Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397977T= | CA1942335644 | OAT | c.1285A= (p.Ile429=) c.871A= (p.Ile291=) c.964A= (p.Ile322=) c.685A= (p.Ile229=) | |
| 10 | g.124397978G>A | CA5733278 | OAT | c.1284C>T (p.Ser428=) c.870C>T (p.Ser290=) c.963C>T (p.Ser321=) c.684C>T (p.Ser228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397978G>C | CA471762499 | OAT | c.1284C>G (p.Ser428=) c.870C>G (p.Ser290=) c.963C>G (p.Ser321=) c.684C>G (p.Ser228=) | ClinVar |
| 10 | g.124397978G= | CA1942335645 | OAT | c.1284C= (p.Ser428=) c.870C= (p.Ser290=) c.963C= (p.Ser321=) c.684C= (p.Ser228=) | |
| 10 | g.124397978G>T | CA471762500 | OAT | c.1284C>A (p.Ser428=) c.870C>A (p.Ser290=) c.963C>A (p.Ser321=) c.684C>A (p.Ser228=) | |
| 10 | g.124397979dup | CA2611307203 | OAT | c.1284dup (p.Ile429HisfsTer2) c.870dup (p.Ile291HisfsTer2) c.963dup (p.Ile322HisfsTer2) c.684dup (p.Ile229HisfsTer2) | gnomAD v4 |
| 10 | g.124397979G>A | CA378633029 | OAT | c.1283C>T (p.Ser428Phe) c.869C>T (p.Ser290Phe) c.962C>T (p.Ser321Phe) c.683C>T (p.Ser228Phe) | |
| 10 | g.124397979G>C | CA378633030 | OAT | c.1283C>G (p.Ser428Cys) c.869C>G (p.Ser290Cys) c.962C>G (p.Ser321Cys) c.683C>G (p.Ser228Cys) | |
| 10 | g.124397979G>T | CA378633031 | OAT | c.1283C>A (p.Ser428Tyr) c.869C>A (p.Ser290Tyr) c.962C>A (p.Ser321Tyr) c.683C>A (p.Ser228Tyr) | |
| 10 | g.124397980A>C | CA378633032 | OAT | c.1282T>G (p.Ser428Ala) c.868T>G (p.Ser290Ala) c.961T>G (p.Ser321Ala) c.682T>G (p.Ser228Ala) | |
| 10 | g.124397980A>G | CA378633034 | OAT | c.1282T>C (p.Ser428Pro) c.868T>C (p.Ser290Pro) c.961T>C (p.Ser321Pro) c.682T>C (p.Ser228Pro) | |
| 10 | g.124397980A>T | CA378633033 | OAT | c.1282T>A (p.Ser428Thr) c.868T>A (p.Ser290Thr) c.961T>A (p.Ser321Thr) c.682T>A (p.Ser228Thr) | gnomAD v4 |
| 10 | g.124397981C>A | CA378633035 | OAT | c.1281G>T (p.Glu427Asp) c.867G>T (p.Glu289Asp) c.960G>T (p.Glu320Asp) c.681G>T (p.Glu227Asp) | |
| 10 | g.124397981C= | CA1942335646 | OAT | c.1281G= (p.Glu427=) c.867G= (p.Glu289=) c.960G= (p.Glu320=) c.681G= (p.Glu227=) | |
| 10 | g.124397981C>G | CA378633036 | OAT | c.1281G>C (p.Glu427Asp) c.867G>C (p.Glu289Asp) c.960G>C (p.Glu320Asp) c.681G>C (p.Glu227Asp) | |
| 10 | g.124397981C>T | CA471762501 | OAT | c.1281G>A (p.Glu427=) c.867G>A (p.Glu289=) c.960G>A (p.Glu320=) c.681G>A (p.Glu227=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124397982T>A | CA378633037 | OAT | c.1280A>T (p.Glu427Val) c.866A>T (p.Glu289Val) c.959A>T (p.Glu320Val) c.680A>T (p.Glu227Val) | |
| 10 | g.124397982T>C | CA378633039 | OAT | c.1280A>G (p.Glu427Gly) c.866A>G (p.Glu289Gly) c.959A>G (p.Glu320Gly) c.680A>G (p.Glu227Gly) | |
| 10 | g.124397982T>G | CA378633038 | OAT | c.1280A>C (p.Glu427Ala) c.866A>C (p.Glu289Ala) c.959A>C (p.Glu320Ala) c.680A>C (p.Glu227Ala) | gnomAD v4 |
| 10 | g.124397983C>A | CA378633040 | OAT | c.1279G>T (p.Glu427Ter) c.865G>T (p.Glu289Ter) c.958G>T (p.Glu320Ter) c.679G>T (p.Glu227Ter) | |
| 10 | g.124397983C= | CA1942335647 | OAT | c.1279G= (p.Glu427=) c.865G= (p.Glu289=) c.958G= (p.Glu320=) c.679G= (p.Glu227=) | |
| 10 | g.124397983C>G | CA378633041 | OAT | c.1279G>C (p.Glu427Gln) c.865G>C (p.Glu289Gln) c.958G>C (p.Glu320Gln) c.679G>C (p.Glu227Gln) | |
| 10 | g.124397983C>T | CA215241498 | OAT | c.1279G>A (p.Glu427Lys) c.865G>A (p.Glu289Lys) c.958G>A (p.Glu320Lys) c.679G>A (p.Glu227Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397984T>A | CA471762502 | OAT | c.1278A>T (p.Arg426=) c.864A>T (p.Arg288=) c.957A>T (p.Arg319=) c.678A>T (p.Arg226=) | |
| 10 | g.124397984T>C | CA471762503 | OAT | c.1278A>G (p.Arg426=) c.864A>G (p.Arg288=) c.957A>G (p.Arg319=) c.678A>G (p.Arg226=) | |
| 10 | g.124397984T>G | CA471762504 | OAT | c.1278A>C (p.Arg426=) c.864A>C (p.Arg288=) c.957A>C (p.Arg319=) c.678A>C (p.Arg226=) | |
| 10 | g.124397985C>A | CA378633042 | OAT | c.1277G>T (p.Arg426Leu) c.863G>T (p.Arg288Leu) c.956G>T (p.Arg319Leu) c.677G>T (p.Arg226Leu) | |
| 10 | g.124397985C= | CA1942335648 | OAT | c.1277G= (p.Arg426=) c.863G= (p.Arg288=) c.956G= (p.Arg319=) c.677G= (p.Arg226=) | |
| 10 | g.124397985C>G | CA378633043 | OAT | c.1277G>C (p.Arg426Pro) c.863G>C (p.Arg288Pro) c.956G>C (p.Arg319Pro) c.677G>C (p.Arg226Pro) | gnomAD v4 |
| 10 | g.124397985C>T | CA5733279 | OAT | c.1277G>A (p.Arg426Gln) c.863G>A (p.Arg288Gln) c.956G>A (p.Arg319Gln) c.677G>A (p.Arg226Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397986G>A | CA114002 | OAT | c.1276C>T (p.Arg426Ter) c.862C>T (p.Arg288Ter) c.955C>T (p.Arg319Ter) c.676C>T (p.Arg226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397986G>C | CA378633044 | OAT | c.1276C>G (p.Arg426Gly) c.862C>G (p.Arg288Gly) c.955C>G (p.Arg319Gly) c.676C>G (p.Arg226Gly) | |
| 10 | g.124397986G= | CA1942335649 | OAT | c.1276C= (p.Arg426=) c.862C= (p.Arg288=) c.955C= (p.Arg319=) c.676C= (p.Arg226=) | |
| 10 | g.124397986G>T | CA471762505 | OAT | c.1276C>A (p.Arg426=) c.862C>A (p.Arg288=) c.955C>A (p.Arg319=) c.676C>A (p.Arg226=) | ClinVar |
| 10 | g.124397987A= | CA1942335650 | OAT | c.1275T= (p.Leu425=) c.861T= (p.Leu287=) c.954T= (p.Leu318=) c.675T= (p.Leu225=) | |
| 10 | g.124397987A>C | CA471762506 | OAT | c.1275T>G (p.Leu425=) c.861T>G (p.Leu287=) c.954T>G (p.Leu318=) c.675T>G (p.Leu225=) | |
| 10 | g.124397987A>G | CA471762507 | OAT | c.1275T>C (p.Leu425=) c.861T>C (p.Leu287=) c.954T>C (p.Leu318=) c.675T>C (p.Leu225=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397987A>T | CA471762508 | OAT | c.1275T>A (p.Leu425=) c.861T>A (p.Leu287=) c.954T>A (p.Leu318=) c.675T>A (p.Leu225=) | |
| 10 | g.124397988A>C | CA378633045 | OAT | c.1274T>G (p.Leu425Arg) c.860T>G (p.Leu287Arg) c.953T>G (p.Leu318Arg) c.674T>G (p.Leu225Arg) | |
| 10 | g.124397988A>G | CA378633046 | OAT | c.1274T>C (p.Leu425Pro) c.860T>C (p.Leu287Pro) c.953T>C (p.Leu318Pro) c.674T>C (p.Leu225Pro) | |
| 10 | g.124397988A>T | CA378633047 | OAT | c.1274T>A (p.Leu425His) c.860T>A (p.Leu287His) c.953T>A (p.Leu318His) c.674T>A (p.Leu225His) | |
| 10 | g.124397989G>A | CA5733280 | OAT | c.1273C>T (p.Leu425Phe) c.859C>T (p.Leu287Phe) c.952C>T (p.Leu318Phe) c.673C>T (p.Leu225Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397989G>C | CA378633048 | OAT | c.1273C>G (p.Leu425Val) c.859C>G (p.Leu287Val) c.952C>G (p.Leu318Val) c.673C>G (p.Leu225Val) |