UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 10 | g.124397989G= | CA1942335651 | OAT | c.1273C= (p.Leu425=) c.859C= (p.Leu287=) c.952C= (p.Leu318=) c.673C= (p.Leu225=) | |
| 10 | g.124397989G>T | CA378633049 | OAT | c.1273C>A (p.Leu425Ile) c.859C>A (p.Leu287Ile) c.952C>A (p.Leu318Ile) c.673C>A (p.Leu225Ile) | |
| 10 | g.124397990C>A | CA378633050 | OAT | c.1272G>T (p.Glu424Asp) c.858G>T (p.Glu286Asp) c.951G>T (p.Glu317Asp) c.672G>T (p.Glu224Asp) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124397990C= | CA1942335652 | OAT | c.1272G= (p.Glu424=) c.858G= (p.Glu286=) c.951G= (p.Glu317=) c.672G= (p.Glu224=) | |
| 10 | g.124397990C>G | CA378633051 | OAT | c.1272G>C (p.Glu424Asp) c.858G>C (p.Glu286Asp) c.951G>C (p.Glu317Asp) c.672G>C (p.Glu224Asp) | gnomAD v4 |
| 10 | g.124397990C>T | CA471762509 | OAT | c.1272G>A (p.Glu424=) c.858G>A (p.Glu286=) c.951G>A (p.Glu317=) c.672G>A (p.Glu224=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397991T>A | CA378633052 | OAT | c.1271A>T (p.Glu424Val) c.857A>T (p.Glu286Val) c.950A>T (p.Glu317Val) c.671A>T (p.Glu224Val) | |
| 10 | g.124397991T>C | CA378633053 | OAT | c.1271A>G (p.Glu424Gly) c.857A>G (p.Glu286Gly) c.950A>G (p.Glu317Gly) c.671A>G (p.Glu224Gly) | |
| 10 | g.124397991T>G | CA378633054 | OAT | c.1271A>C (p.Glu424Ala) c.857A>C (p.Glu286Ala) c.950A>C (p.Glu317Ala) c.671A>C (p.Glu224Ala) | |
| 10 | g.124397992C>A | CA378633055 | OAT | c.1270G>T (p.Glu424Ter) c.856G>T (p.Glu286Ter) c.949G>T (p.Glu317Ter) c.670G>T (p.Glu224Ter) | |
| 10 | g.124397992C>G | CA378633056 | OAT | c.1270G>C (p.Glu424Gln) c.856G>C (p.Glu286Gln) c.949G>C (p.Glu317Gln) c.670G>C (p.Glu224Gln) | |
| 10 | g.124397992C>T | CA378633057 | OAT | c.1270G>A (p.Glu424Lys) c.856G>A (p.Glu286Lys) c.949G>A (p.Glu317Lys) c.670G>A (p.Glu224Lys) | |
| 10 | g.124397993A>C | CA378633058 | OAT | c.1269T>G (p.Asp423Glu) c.855T>G (p.Asp285Glu) c.948T>G (p.Asp316Glu) c.669T>G (p.Asp223Glu) | gnomAD v4 |
| 10 | g.124397993A>G | CA471762510 | OAT | c.1269T>C (p.Asp423=) c.855T>C (p.Asp285=) c.948T>C (p.Asp316=) c.669T>C (p.Asp223=) | gnomAD v4 |
| 10 | g.124397993A>T | CA378633059 | OAT | c.1269T>A (p.Asp423Glu) c.855T>A (p.Asp285Glu) c.948T>A (p.Asp316Glu) c.669T>A (p.Asp223Glu) | |
| 10 | g.124397994T>A | CA378633062 | OAT | c.1268A>T (p.Asp423Val) c.854A>T (p.Asp285Val) c.947A>T (p.Asp316Val) c.668A>T (p.Asp223Val) | |
| 10 | g.124397994T>C | CA378633061 | OAT | c.1268A>G (p.Asp423Gly) c.854A>G (p.Asp285Gly) c.947A>G (p.Asp316Gly) c.668A>G (p.Asp223Gly) | |
| 10 | g.124397994T>G | CA378633060 | OAT | c.1268A>C (p.Asp423Ala) c.854A>C (p.Asp285Ala) c.947A>C (p.Asp316Ala) c.668A>C (p.Asp223Ala) | |
| 10 | g.124397995C>A | CA378633063 | OAT | c.1267G>T (p.Asp423Tyr) c.853G>T (p.Asp285Tyr) c.946G>T (p.Asp316Tyr) c.667G>T (p.Asp223Tyr) | |
| 10 | g.124397995C>G | CA378633064 | OAT | c.1267G>C (p.Asp423His) c.853G>C (p.Asp285His) c.946G>C (p.Asp316His) c.667G>C (p.Asp223His) | |
| 10 | g.124397995C>T | CA378633065 | OAT | c.1267G>A (p.Asp423Asn) c.853G>A (p.Asp285Asn) c.946G>A (p.Asp316Asn) c.667G>A (p.Asp223Asn) | |
| 10 | g.124397996C>A | CA378633066 | OAT | c.1266G>T (p.Glu422Asp) c.852G>T (p.Glu284Asp) c.945G>T (p.Glu315Asp) c.666G>T (p.Glu222Asp) | |
| 10 | g.124397996C>G | CA378633067 | OAT | c.1266G>C (p.Glu422Asp) c.852G>C (p.Glu284Asp) c.945G>C (p.Glu315Asp) c.666G>C (p.Glu222Asp) | |
| 10 | g.124397996C>T | CA471762511 | OAT | c.1266G>A (p.Glu422=) c.852G>A (p.Glu284=) c.945G>A (p.Glu315=) c.666G>A (p.Glu222=) | gnomAD v4 COSMIC |
| 10 | g.124397997T>A | CA378633068 | OAT | c.1265A>T (p.Glu422Val) c.851A>T (p.Glu284Val) c.944A>T (p.Glu315Val) c.665A>T (p.Glu222Val) | |
| 10 | g.124397997T>C | CA378633069 | OAT | c.1265A>G (p.Glu422Gly) c.851A>G (p.Glu284Gly) c.944A>G (p.Glu315Gly) c.665A>G (p.Glu222Gly) | gnomAD v4 |
| 10 | g.124397997T>G | CA378633070 | OAT | c.1265A>C (p.Glu422Ala) c.851A>C (p.Glu284Ala) c.944A>C (p.Glu315Ala) c.665A>C (p.Glu222Ala) | |
| 10 | g.124397998C>A | CA378633071 | OAT | c.1264G>T (p.Glu422Ter) c.850G>T (p.Glu284Ter) c.943G>T (p.Glu315Ter) c.664G>T (p.Glu222Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397998C= | CA1942335653 | OAT | c.1264G= (p.Glu422=) c.850G= (p.Glu284=) c.943G= (p.Glu315=) c.664G= (p.Glu222=) | |
| 10 | g.124397998C>G | CA378633072 | OAT | c.1264G>C (p.Glu422Gln) c.850G>C (p.Glu284Gln) c.943G>C (p.Glu315Gln) c.664G>C (p.Glu222Gln) | |
| 10 | g.124397998C>T | CA378633073 | OAT | c.1264G>A (p.Glu422Lys) c.850G>A (p.Glu284Lys) c.943G>A (p.Glu315Lys) c.664G>A (p.Glu222Lys) | dbSNP gnomAD v4 |
| 10 | g.124397999C>A | CA378633074 | OAT | c.1263G>T (p.Lys421Asn) c.849G>T (p.Lys283Asn) c.942G>T (p.Lys314Asn) c.663G>T (p.Lys221Asn) | |
| 10 | g.124397999C>G | CA378633075 | OAT | c.1263G>C (p.Lys421Asn) c.849G>C (p.Lys283Asn) c.942G>C (p.Lys314Asn) c.663G>C (p.Lys221Asn) | |
| 10 | g.124397999C>T | CA471762512 | OAT | c.1263G>A (p.Lys421=) c.849G>A (p.Lys283=) c.942G>A (p.Lys314=) c.663G>A (p.Lys221=) | |
| 10 | g.124398000T>A | CA378633076 | OAT | c.1262A>T (p.Lys421Met) c.848A>T (p.Lys283Met) c.941A>T (p.Lys314Met) c.662A>T (p.Lys221Met) | |
| 10 | g.124398000T>C | CA378633078 | OAT | c.1262A>G (p.Lys421Arg) c.848A>G (p.Lys283Arg) c.941A>G (p.Lys314Arg) c.662A>G (p.Lys221Arg) | dbSNP |
| 10 | g.124398000T>G | CA378633077 | OAT | c.1262A>C (p.Lys421Thr) c.848A>C (p.Lys283Thr) c.941A>C (p.Lys314Thr) c.662A>C (p.Lys221Thr) | |
| 10 | g.124398001T>A | CA378633079 | OAT | c.1261A>T (p.Lys421Ter) c.847A>T (p.Lys283Ter) c.940A>T (p.Lys314Ter) c.661A>T (p.Lys221Ter) | |
| 10 | g.124398001T>C | CA378633080 | OAT | c.1261A>G (p.Lys421Glu) c.847A>G (p.Lys283Glu) c.940A>G (p.Lys314Glu) c.661A>G (p.Lys221Glu) | ClinVar dbSNP |
| 10 | g.124398001T>G | CA378633081 | OAT | c.1261A>C (p.Lys421Gln) c.847A>C (p.Lys283Gln) c.940A>C (p.Lys314Gln) c.661A>C (p.Lys221Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398001T= | CA1942335654 | OAT | c.1261A= (p.Lys421=) c.847A= (p.Lys283=) c.940A= (p.Lys314=) c.661A= (p.Lys221=) | |
| 10 | g.124398002G>A | CA471762514 | OAT | c.1260C>T (p.Ile420=) c.846C>T (p.Ile282=) c.939C>T (p.Ile313=) c.660C>T (p.Ile220=) | |
| 10 | g.124398002G>C | CA378633082 | OAT | c.1260C>G (p.Ile420Met) c.846C>G (p.Ile282Met) c.939C>G (p.Ile313Met) c.660C>G (p.Ile220Met) | |
| 10 | g.124398002G>T | CA471762513 | OAT | c.1260C>A (p.Ile420=) c.846C>A (p.Ile282=) c.939C>A (p.Ile313=) c.660C>A (p.Ile220=) | |
| 10 | g.124398003_124398010dup | CA2499220189 | OAT | c.1253_1260dup (p.Lys421TrpfsTer2) c.839_846dup (p.Lys283TrpfsTer2) c.932_939dup (p.Lys314TrpfsTer2) c.653_660dup (p.Lys221TrpfsTer2) | ClinVar dbSNP |
| 10 | g.124398003A>C | CA378633083 | OAT | c.1259T>G (p.Ile420Ser) c.845T>G (p.Ile282Ser) c.938T>G (p.Ile313Ser) c.659T>G (p.Ile220Ser) | |
| 10 | g.124398003A>G | CA378633084 | OAT | c.1259T>C (p.Ile420Thr) c.845T>C (p.Ile282Thr) c.938T>C (p.Ile313Thr) c.659T>C (p.Ile220Thr) | |
| 10 | g.124398003A>T | CA378633085 | OAT | c.1259T>A (p.Ile420Asn) c.845T>A (p.Ile282Asn) c.938T>A (p.Ile313Asn) c.659T>A (p.Ile220Asn) | |
| 10 | g.124398004T>A | CA378633086 | OAT | c.1258A>T (p.Ile420Phe) c.844A>T (p.Ile282Phe) c.937A>T (p.Ile313Phe) c.658A>T (p.Ile220Phe) | |
| 10 | g.124398004T>C | CA378633087 | OAT | c.1258A>G (p.Ile420Val) c.844A>G (p.Ile282Val) c.937A>G (p.Ile313Val) c.658A>G (p.Ile220Val) | |
| 10 | g.124398004T>G | CA378633088 | OAT | c.1258A>C (p.Ile420Leu) c.844A>C (p.Ile282Leu) c.937A>C (p.Ile313Leu) c.658A>C (p.Ile220Leu) | |
| 10 | g.124398005C>A | CA215241524 | OAT | c.1257G>T (p.Val419=) c.843G>T (p.Val281=) c.936G>T (p.Val312=) c.657G>T (p.Val219=) | dbSNP |
| 10 | g.124398005C= | CA1942335655 | OAT | c.1257G= (p.Val419=) c.843G= (p.Val281=) c.936G= (p.Val312=) c.657G= (p.Val219=) | |
| 10 | g.124398005C>G | CA471762515 | OAT | c.1257G>C (p.Val419=) c.843G>C (p.Val281=) c.936G>C (p.Val312=) c.657G>C (p.Val219=) | |
| 10 | g.124398005C>T | CA471762516 | OAT | c.1257G>A (p.Val419=) c.843G>A (p.Val281=) c.936G>A (p.Val312=) c.657G>A (p.Val219=) | |
| 10 | g.124398006A>C | CA378633090 | OAT | c.1256T>G (p.Val419Gly) c.842T>G (p.Val281Gly) c.935T>G (p.Val312Gly) c.656T>G (p.Val219Gly) | |
| 10 | g.124398006A>G | CA378633091 | OAT | c.1256T>C (p.Val419Ala) c.842T>C (p.Val281Ala) c.935T>C (p.Val312Ala) c.656T>C (p.Val219Ala) | |
| 10 | g.124398006A>T | CA378633089 | OAT | c.1256T>A (p.Val419Glu) c.842T>A (p.Val281Glu) c.935T>A (p.Val312Glu) c.656T>A (p.Val219Glu) | |
| 10 | g.124398007C>A | CA378633093 | OAT | c.1255G>T (p.Val419Leu) c.841G>T (p.Val281Leu) c.934G>T (p.Val312Leu) c.655G>T (p.Val219Leu) | dbSNP |
| 10 | g.124398007C= | CA1942335656 | OAT | c.1255G= (p.Val419=) c.841G= (p.Val281=) c.934G= (p.Val312=) c.655G= (p.Val219=) | |
| 10 | g.124398007C>G | CA5733281 | OAT | c.1255G>C (p.Val419Leu) c.841G>C (p.Val281Leu) c.934G>C (p.Val312Leu) c.655G>C (p.Val219Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398007C>T | CA378633092 | OAT | c.1255G>A (p.Val419Met) c.841G>A (p.Val281Met) c.934G>A (p.Val312Met) c.655G>A (p.Val219Met) | gnomAD v4 |
| 10 | g.124398008C>A | CA471762518 | OAT | c.1254G>T (p.Leu418=) c.840G>T (p.Leu280=) c.933G>T (p.Leu311=) c.654G>T (p.Leu218=) | |
| 10 | g.124398008C= | CA1942335657 | OAT | c.1254G= (p.Leu418=) c.840G= (p.Leu280=) c.933G= (p.Leu311=) c.654G= (p.Leu218=) | |
| 10 | g.124398008C>G | CA471762517 | OAT | c.1254G>C (p.Leu418=) c.840G>C (p.Leu280=) c.933G>C (p.Leu311=) c.654G>C (p.Leu218=) | |
| 10 | g.124398008C>T | CA5733282 | OAT | c.1254G>A (p.Leu418=) c.840G>A (p.Leu280=) c.933G>A (p.Leu311=) c.654G>A (p.Leu218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398009A>C | CA378633094 | OAT | c.1253T>G (p.Leu418Arg) c.839T>G (p.Leu280Arg) c.932T>G (p.Leu311Arg) c.653T>G (p.Leu218Arg) | |
| 10 | g.124398009A>G | CA378633095 | OAT | c.1253T>C (p.Leu418Pro) c.839T>C (p.Leu280Pro) c.932T>C (p.Leu311Pro) c.653T>C (p.Leu218Pro) | |
| 10 | g.124398009A>T | CA378633096 | OAT | c.1253T>A (p.Leu418Gln) c.839T>A (p.Leu280Gln) c.932T>A (p.Leu311Gln) c.653T>A (p.Leu218Gln) | |
| 10 | g.124398010G>A | CA471762519 | OAT | c.1252C>T (p.Leu418=) c.838C>T (p.Leu280=) c.931C>T (p.Leu311=) c.652C>T (p.Leu218=) | ClinVar |
| 10 | g.124398010G>C | CA378633097 | OAT | c.1252C>G (p.Leu418Val) c.838C>G (p.Leu280Val) c.931C>G (p.Leu311Val) c.652C>G (p.Leu218Val) | |
| 10 | g.124398010G>T | CA378633098 | OAT | c.1252C>A (p.Leu418Met) c.838C>A (p.Leu280Met) c.931C>A (p.Leu311Met) c.652C>A (p.Leu218Met) | |
| 10 | g.124398011C>A | CA471762520 | OAT | c.1251G>T (p.Pro417=) c.837G>T (p.Pro279=) c.930G>T (p.Pro310=) c.651G>T (p.Pro217=) | gnomAD v4 |
| 10 | g.124398011C= | CA1942335658 | OAT | c.1251G= (p.Pro417=) c.837G= (p.Pro279=) c.930G= (p.Pro310=) c.651G= (p.Pro217=) | |
| 10 | g.124398011C>G | CA471762521 | OAT | c.1251G>C (p.Pro417=) c.837G>C (p.Pro279=) c.930G>C (p.Pro310=) c.651G>C (p.Pro217=) | |
| 10 | g.124398011C>T | CA5733283 | OAT | c.1251G>A (p.Pro417=) c.837G>A (p.Pro279=) c.930G>A (p.Pro310=) c.651G>A (p.Pro217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398012G>A | CA113943 | OAT | c.1250C>T (p.Pro417Leu) c.836C>T (p.Pro279Leu) c.929C>T (p.Pro310Leu) c.650C>T (p.Pro217Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.124398012G>C | CA378633099 | OAT | c.1250C>G (p.Pro417Arg) c.836C>G (p.Pro279Arg) c.929C>G (p.Pro310Arg) c.650C>G (p.Pro217Arg) | |
| 10 | g.124398012G= | CA1942335659 | OAT | c.1250C= (p.Pro417=) c.836C= (p.Pro279=) c.929C= (p.Pro310=) c.650C= (p.Pro217=) | |
| 10 | g.124398012G>T | CA378633100 | OAT | c.1250C>A (p.Pro417Gln) c.836C>A (p.Pro279Gln) c.929C>A (p.Pro310Gln) c.650C>A (p.Pro217Gln) | gnomAD v4 COSMIC |
| 10 | g.124398013G>A | CA5733284 | OAT | c.1249C>T (p.Pro417Ser) c.835C>T (p.Pro279Ser) c.928C>T (p.Pro310Ser) c.649C>T (p.Pro217Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124398013G>C | CA378633102 | OAT | c.1249C>G (p.Pro417Ala) c.835C>G (p.Pro279Ala) c.928C>G (p.Pro310Ala) c.649C>G (p.Pro217Ala) | |
| 10 | g.124398013G= | CA1942335660 | OAT | c.1249C= (p.Pro417=) c.835C= (p.Pro279=) c.928C= (p.Pro310=) c.649C= (p.Pro217=) | |
| 10 | g.124398013G>T | CA378633101 | OAT | c.1249C>A (p.Pro417Thr) c.835C>A (p.Pro279Thr) c.928C>A (p.Pro310Thr) c.649C>A (p.Pro217Thr) | |
| 10 | g.124398014A>C | CA471762522 | OAT | c.1248T>G (p.Pro416=) c.834T>G (p.Pro278=) c.927T>G (p.Pro309=) c.648T>G (p.Pro216=) | |
| 10 | g.124398014A>G | CA471762523 | OAT | c.1248T>C (p.Pro416=) c.834T>C (p.Pro278=) c.927T>C (p.Pro309=) c.648T>C (p.Pro216=) | |
| 10 | g.124398014A>T | CA471762524 | OAT | c.1248T>A (p.Pro416=) c.834T>A (p.Pro278=) c.927T>A (p.Pro309=) c.648T>A (p.Pro216=) | |
| 10 | g.124398015G>A | CA378633103 | OAT | c.1247C>T (p.Pro416Leu) c.833C>T (p.Pro278Leu) c.926C>T (p.Pro309Leu) c.647C>T (p.Pro216Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124398015G>C | CA378633104 | OAT | c.1247C>G (p.Pro416Arg) c.833C>G (p.Pro278Arg) c.926C>G (p.Pro309Arg) c.647C>G (p.Pro216Arg) | |
| 10 | g.124398015G= | CA1942335661 | OAT | c.1247C= (p.Pro416=) c.833C= (p.Pro278=) c.926C= (p.Pro309=) c.647C= (p.Pro216=) | |
| 10 | g.124398015G>T | CA378633105 | OAT | c.1247C>A (p.Pro416His) c.833C>A (p.Pro278His) c.926C>A (p.Pro309His) c.647C>A (p.Pro216His) | |
| 10 | g.124398016G>A | CA378633106 | OAT | c.1246C>T (p.Pro416Ser) c.832C>T (p.Pro278Ser) c.925C>T (p.Pro309Ser) c.646C>T (p.Pro216Ser) | |
| 10 | g.124398016G>C | CA378633107 | OAT | c.1246C>G (p.Pro416Ala) c.832C>G (p.Pro278Ala) c.925C>G (p.Pro309Ala) c.646C>G (p.Pro216Ala) | |
| 10 | g.124398016G>T | CA378633108 | OAT | c.1246C>A (p.Pro416Thr) c.832C>A (p.Pro278Thr) c.925C>A (p.Pro309Thr) c.646C>A (p.Pro216Thr) | gnomAD v4 |
| 10 | g.124398017C>A | CA471762525 | OAT | c.1245G>T (p.Ala415=) c.831G>T (p.Ala277=) c.924G>T (p.Ala308=) c.645G>T (p.Ala215=) | |
| 10 | g.124398017C= | CA1942335662 | OAT | c.1245G= (p.Ala415=) c.831G= (p.Ala277=) c.924G= (p.Ala308=) c.645G= (p.Ala215=) | |
| 10 | g.124398017C>G | CA471762526 | OAT | c.1245G>C (p.Ala415=) c.831G>C (p.Ala277=) c.924G>C (p.Ala308=) c.645G>C (p.Ala215=) | |
| 10 | g.124398017C>T | CA5733285 | OAT | c.1245G>A (p.Ala415=) c.831G>A (p.Ala277=) c.924G>A (p.Ala308=) c.645G>A (p.Ala215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398018G>A | CA5733286 | OAT | c.1244C>T (p.Ala415Val) c.830C>T (p.Ala277Val) c.923C>T (p.Ala308Val) c.644C>T (p.Ala215Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398018G>C | CA378633109 | OAT | c.1244C>G (p.Ala415Gly) c.830C>G (p.Ala277Gly) c.923C>G (p.Ala308Gly) c.644C>G (p.Ala215Gly) | |
| 10 | g.124398018G= | CA1942335663 | OAT | c.1244C= (p.Ala415=) c.830C= (p.Ala277=) c.923C= (p.Ala308=) c.644C= (p.Ala215=) | |
| 10 | g.124398018G>T | CA378633110 | OAT | c.1244C>A (p.Ala415Glu) c.830C>A (p.Ala277Glu) c.923C>A (p.Ala308Glu) c.644C>A (p.Ala215Glu) | |
| 10 | g.124398019C>A | CA378633111 | OAT | c.1243G>T (p.Ala415Ser) c.829G>T (p.Ala277Ser) c.922G>T (p.Ala308Ser) c.643G>T (p.Ala215Ser) | |
| 10 | g.124398019C= | CA1942335664 | OAT | c.1243G= (p.Ala415=) c.829G= (p.Ala277=) c.922G= (p.Ala308=) c.643G= (p.Ala215=) | |
| 10 | g.124398019C>G | CA378633112 | OAT | c.1243G>C (p.Ala415Pro) c.829G>C (p.Ala277Pro) c.922G>C (p.Ala308Pro) c.643G>C (p.Ala215Pro) | dbSNP |
| 10 | g.124398019C>T | CA378633113 | OAT | c.1243G>A (p.Ala415Thr) c.829G>A (p.Ala277Thr) c.922G>A (p.Ala308Thr) c.643G>A (p.Ala215Thr) | |
| 10 | g.124398020A>C | CA378633115 | OAT | c.1242T>G (p.Phe414Leu) c.828T>G (p.Phe276Leu) c.921T>G (p.Phe307Leu) c.642T>G (p.Phe214Leu) | |
| 10 | g.124398020A>G | CA471762527 | OAT | c.1242T>C (p.Phe414=) c.828T>C (p.Phe276=) c.921T>C (p.Phe307=) c.642T>C (p.Phe214=) | |
| 10 | g.124398020A>T | CA378633114 | OAT | c.1242T>A (p.Phe414Leu) c.828T>A (p.Phe276Leu) c.921T>A (p.Phe307Leu) c.642T>A (p.Phe214Leu) | |
| 10 | g.124398021A>C | CA378633116 | OAT | c.1241T>G (p.Phe414Cys) n.751T>G c.827T>G (p.Phe276Cys) c.920T>G (p.Phe307Cys) c.641T>G (p.Phe214Cys) | |
| 10 | g.124398021A>G | CA378633117 | OAT | c.1241T>C (p.Phe414Ser) n.751T>C c.827T>C (p.Phe276Ser) c.920T>C (p.Phe307Ser) c.641T>C (p.Phe214Ser) | |
| 10 | g.124398021A>T | CA378633118 | OAT | c.1241T>A (p.Phe414Tyr) n.751T>A c.827T>A (p.Phe276Tyr) c.920T>A (p.Phe307Tyr) c.641T>A (p.Phe214Tyr) | |
| 10 | g.124398022A>C | CA378633119 | OAT | c.1240T>G (p.Phe414Val) n.750T>G c.826T>G (p.Phe276Val) c.919T>G (p.Phe307Val) c.640T>G (p.Phe214Val) | |
| 10 | g.124398022A>G | CA378633120 | OAT | c.1240T>C (p.Phe414Leu) n.750T>C c.826T>C (p.Phe276Leu) c.919T>C (p.Phe307Leu) c.640T>C (p.Phe214Leu) | |
| 10 | g.124398022A>T | CA378633121 | OAT | c.1240T>A (p.Phe414Ile) n.750T>A c.826T>A (p.Phe276Ile) c.919T>A (p.Phe307Ile) c.640T>A (p.Phe214Ile) | |
| 10 | g.124398023C>A | CA378633122 | OAT | c.1239G>T (p.Arg413Ser) n.749G>T c.825G>T (p.Arg275Ser) c.918G>T (p.Arg306Ser) c.639G>T (p.Arg213Ser) | |
| 10 | g.124398023C>G | CA378633123 | OAT | c.1239G>C (p.Arg413Ser) n.749G>C c.825G>C (p.Arg275Ser) c.918G>C (p.Arg306Ser) c.639G>C (p.Arg213Ser) | |
| 10 | g.124398023C>T | CA471762528 | OAT | c.1239G>A (p.Arg413=) n.749G>A c.825G>A (p.Arg275=) c.918G>A (p.Arg306=) c.639G>A (p.Arg213=) | gnomAD v4 |
| 10 | g.124398024C>A | CA378633124 | OAT | c.1238G>T (p.Arg413Met) n.748G>T c.824G>T (p.Arg275Met) c.917G>T (p.Arg306Met) c.638G>T (p.Arg213Met) | |
| 10 | g.124398024C>G | CA378633126 | OAT | c.1238G>C (p.Arg413Thr) n.748G>C c.824G>C (p.Arg275Thr) c.917G>C (p.Arg306Thr) c.638G>C (p.Arg213Thr) | |
| 10 | g.124398024C>T | CA378633125 | OAT | c.1238G>A (p.Arg413Lys) n.748G>A c.824G>A (p.Arg275Lys) c.917G>A (p.Arg306Lys) c.638G>A (p.Arg213Lys) | |
| 10 | g.124398025T>A | CA378633127 | OAT | c.1237A>T (p.Arg413Trp) n.747A>T c.823A>T (p.Arg275Trp) c.916A>T (p.Arg306Trp) c.637A>T (p.Arg213Trp) | |
| 10 | g.124398025T>C | CA378633128 | OAT | c.1237A>G (p.Arg413Gly) n.747A>G c.823A>G (p.Arg275Gly) c.916A>G (p.Arg306Gly) c.637A>G (p.Arg213Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398025T>G | CA471762529 | OAT | c.1237A>C (p.Arg413=) n.747A>C c.823A>C (p.Arg275=) c.916A>C (p.Arg306=) c.637A>C (p.Arg213=) | |
| 10 | g.124398025T= | CA1942335665 | OAT | c.1237A= (p.Arg413=) n.747A= c.823A= (p.Arg275=) c.916A= (p.Arg306=) c.637A= (p.Arg213=) | |
| 10 | g.124398026G>A | CA5733287 | OAT | c.1236C>T (p.Ile412=) n.746C>T c.822C>T (p.Ile274=) c.915C>T (p.Ile305=) c.636C>T (p.Ile212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124398026G>C | CA378633129 | OAT | c.1236C>G (p.Ile412Met) n.746C>G c.822C>G (p.Ile274Met) c.915C>G (p.Ile305Met) c.636C>G (p.Ile212Met) | |
| 10 | g.124398026G= | CA1942335666 | OAT | c.1236C= (p.Ile412=) n.746C= c.822C= (p.Ile274=) c.915C= (p.Ile305=) c.636C= (p.Ile212=) | |
| 10 | g.124398026G>T | CA471762530 | OAT | c.1236C>A (p.Ile412=) n.746C>A c.822C>A (p.Ile274=) c.915C>A (p.Ile305=) c.636C>A (p.Ile212=) | |
| 10 | g.124398027A= | CA1942335667 | OAT | c.1235T= (p.Ile412=) n.745T= c.821T= (p.Ile274=) c.914T= (p.Ile305=) c.635T= (p.Ile212=) | |
| 10 | g.124398027A>C | CA378633130 | OAT | c.1235T>G (p.Ile412Ser) n.745T>G c.821T>G (p.Ile274Ser) c.914T>G (p.Ile305Ser) c.635T>G (p.Ile212Ser) | |
| 10 | g.124398027A>G | CA378633132 | OAT | c.1235T>C (p.Ile412Thr) n.745T>C c.821T>C (p.Ile274Thr) c.914T>C (p.Ile305Thr) c.635T>C (p.Ile212Thr) | |
| 10 | g.124398027A>T | CA378633131 | OAT | c.1235T>A (p.Ile412Asn) n.745T>A c.821T>A (p.Ile274Asn) c.914T>A (p.Ile305Asn) c.635T>A (p.Ile212Asn) | dbSNP |
| 10 | g.124398028T>A | CA378633133 | OAT | c.1234A>T (p.Ile412Phe) n.744A>T c.820A>T (p.Ile274Phe) c.913A>T (p.Ile305Phe) c.634A>T (p.Ile212Phe) | |
| 10 | g.124398028T>C | CA378633134 | OAT | c.1234A>G (p.Ile412Val) n.744A>G c.820A>G (p.Ile274Val) c.913A>G (p.Ile305Val) c.634A>G (p.Ile212Val) | |
| 10 | g.124398028T>G | CA378633135 | OAT | c.1234A>C (p.Ile412Leu) n.744A>C c.820A>C (p.Ile274Leu) c.913A>C (p.Ile305Leu) c.634A>C (p.Ile212Leu) | |
| 10 | g.124398029A>C | CA378633136 | OAT | c.1233T>G (p.Ile411Met) n.743T>G c.819T>G (p.Ile273Met) c.912T>G (p.Ile304Met) c.633T>G (p.Ile211Met) | |
| 10 | g.124398029A>G | CA471762532 | OAT | c.1233T>C (p.Ile411=) n.743T>C c.819T>C (p.Ile273=) c.912T>C (p.Ile304=) c.633T>C (p.Ile211=) | |
| 10 | g.124398029A>T | CA471762531 | OAT | c.1233T>A (p.Ile411=) n.743T>A c.819T>A (p.Ile273=) c.912T>A (p.Ile304=) c.633T>A (p.Ile211=) | |
| 10 | g.124398030A>C | CA378633137 | OAT | c.1232T>G (p.Ile411Ser) n.742T>G c.818T>G (p.Ile273Ser) c.911T>G (p.Ile304Ser) c.632T>G (p.Ile211Ser) | |
| 10 | g.124398030A>G | CA378633138 | OAT | c.1232T>C (p.Ile411Thr) n.742T>C c.818T>C (p.Ile273Thr) c.911T>C (p.Ile304Thr) c.632T>C (p.Ile211Thr) | |
| 10 | g.124398030A>T | CA378633139 | OAT | c.1232T>A (p.Ile411Asn) n.742T>A c.818T>A (p.Ile273Asn) c.911T>A (p.Ile304Asn) c.632T>A (p.Ile211Asn) | |
| 10 | g.124398031T>A | CA378633140 | OAT | c.1231A>T (p.Ile411Phe) n.741A>T c.817A>T (p.Ile273Phe) c.910A>T (p.Ile304Phe) c.631A>T (p.Ile211Phe) | gnomAD v4 |
| 10 | g.124398031T>C | CA378633141 | OAT | c.1231A>G (p.Ile411Val) n.741A>G c.817A>G (p.Ile273Val) c.910A>G (p.Ile304Val) c.631A>G (p.Ile211Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398031T>G | CA378633142 | OAT | c.1231A>C (p.Ile411Leu) n.741A>C c.817A>C (p.Ile273Leu) c.910A>C (p.Ile304Leu) c.631A>C (p.Ile211Leu) | |
| 10 | g.124398031T= | CA1942335668 | OAT | c.1231A= (p.Ile411=) n.741A= c.817A= (p.Ile273=) c.910A= (p.Ile304=) c.631A= (p.Ile211=) | |
| 10 | g.124398032G>A | CA471762533 | OAT | c.1230C>T (p.Asp410=) n.740C>T c.816C>T (p.Asp272=) c.909C>T (p.Asp303=) c.630C>T (p.Asp210=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398032G>C | CA378633143 | OAT | c.1230C>G (p.Asp410Glu) n.740C>G c.816C>G (p.Asp272Glu) c.909C>G (p.Asp303Glu) c.630C>G (p.Asp210Glu) | |
| 10 | g.124398032G= | CA1942335669 | OAT | c.1230C= (p.Asp410=) n.740C= c.816C= (p.Asp272=) c.909C= (p.Asp303=) c.630C= (p.Asp210=) | |
| 10 | g.124398032G>T | CA378633144 | OAT | c.1230C>A (p.Asp410Glu) n.740C>A c.816C>A (p.Asp272Glu) c.909C>A (p.Asp303Glu) c.630C>A (p.Asp210Glu) | |
| 10 | g.124398033T>A | CA378633146 | OAT | c.1229A>T (p.Asp410Val) n.739A>T c.815A>T (p.Asp272Val) c.908A>T (p.Asp303Val) c.629A>T (p.Asp210Val) | |
| 10 | g.124398033T>C | CA378633147 | OAT | c.1229A>G (p.Asp410Gly) n.739A>G c.815A>G (p.Asp272Gly) c.908A>G (p.Asp303Gly) c.629A>G (p.Asp210Gly) | |
| 10 | g.124398033T>G | CA378633145 | OAT | c.1229A>C (p.Asp410Ala) n.739A>C c.815A>C (p.Asp272Ala) c.908A>C (p.Asp303Ala) c.629A>C (p.Asp210Ala) | gnomAD v4 |
| 10 | g.124398034C>A | CA378633149 | OAT | c.1228G>T (p.Asp410Tyr) n.738G>T c.814G>T (p.Asp272Tyr) c.907G>T (p.Asp303Tyr) c.628G>T (p.Asp210Tyr) | |
| 10 | g.124398034C= | CA1942335670 | OAT | c.1228G= (p.Asp410=) n.738G= c.814G= (p.Asp272=) c.907G= (p.Asp303=) c.628G= (p.Asp210=) | |
| 10 | g.124398034C>G | CA378633148 | OAT | c.1228G>C (p.Asp410His) n.738G>C c.814G>C (p.Asp272His) c.907G>C (p.Asp303His) c.628G>C (p.Asp210His) | |
| 10 | g.124398034C>T | CA5733288 | OAT | c.1228G>A (p.Asp410Asn) n.738G>A c.814G>A (p.Asp272Asn) c.907G>A (p.Asp303Asn) c.628G>A (p.Asp210Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.124398035G>A | CA215241566 | OAT | c.1227C>T (p.Gly409=) n.737C>T c.813C>T (p.Gly271=) c.906C>T (p.Gly302=) c.627C>T (p.Gly209=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398035G>C | CA471762535 | OAT | c.1227C>G (p.Gly409=) n.737C>G c.813C>G (p.Gly271=) c.906C>G (p.Gly302=) c.627C>G (p.Gly209=) | ClinVar gnomAD v4 |
| 10 | g.124398035G= | CA1942335671 | OAT | c.1227C= (p.Gly409=) n.737C= c.813C= (p.Gly271=) c.906C= (p.Gly302=) c.627C= (p.Gly209=) | |
| 10 | g.124398035G>T | CA471762534 | OAT | c.1227C>A (p.Gly409=) n.737C>A c.813C>A (p.Gly271=) c.906C>A (p.Gly302=) c.627C>A (p.Gly209=) | ClinVar |
| 10 | g.124398036C>A | CA5733289 | OAT | c.1226G>T (p.Gly409Val) n.736G>T c.812G>T (p.Gly271Val) c.905G>T (p.Gly302Val) c.626G>T (p.Gly209Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398036C= | CA1942335672 | OAT | c.1226G= (p.Gly409=) n.736G= c.812G= (p.Gly271=) c.905G= (p.Gly302=) c.626G= (p.Gly209=) | |
| 10 | g.124398036C>G | CA378633151 | OAT | c.1226G>C (p.Gly409Ala) n.736G>C c.812G>C (p.Gly271Ala) c.905G>C (p.Gly302Ala) c.626G>C (p.Gly209Ala) | |
| 10 | g.124398036C>T | CA378633150 | OAT | c.1226G>A (p.Gly409Asp) n.736G>A c.812G>A (p.Gly271Asp) c.905G>A (p.Gly302Asp) c.626G>A (p.Gly209Asp) | |
| 10 | g.124398037C>A | CA378633152 | OAT | c.1225G>T (p.Gly409Cys) n.735G>T c.811G>T (p.Gly271Cys) c.904G>T (p.Gly302Cys) c.625G>T (p.Gly209Cys) | |
| 10 | g.124398037C>G | CA378633153 | OAT | c.1225G>C (p.Gly409Arg) n.735G>C c.811G>C (p.Gly271Arg) c.904G>C (p.Gly302Arg) c.625G>C (p.Gly209Arg) | |
| 10 | g.124398037C>T | CA378633154 | OAT | c.1225G>A (p.Gly409Ser) n.735G>A c.811G>A (p.Gly271Ser) c.904G>A (p.Gly302Ser) c.625G>A (p.Gly209Ser) | |
| 10 | g.124398038A= | CA1942335673 | OAT | c.1224T= (p.His408=) n.734T= c.810T= (p.His270=) c.903T= (p.His301=) c.624T= (p.His208=) | |
| 10 | g.124398038A>C | CA378633155 | OAT | c.1224T>G (p.His408Gln) n.734T>G c.810T>G (p.His270Gln) c.903T>G (p.His301Gln) c.624T>G (p.His208Gln) | |
| 10 | g.124398038A>G | CA239102 | OAT | c.1224T>C (p.His408=) n.734T>C c.810T>C (p.His270=) c.903T>C (p.His301=) c.624T>C (p.His208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398038A>T | CA378633156 | OAT | c.1224T>A (p.His408Gln) n.734T>A c.810T>A (p.His270Gln) c.903T>A (p.His301Gln) c.624T>A (p.His208Gln) | |
| 10 | g.124398039T>A | CA378633158 | OAT | c.1223A>T (p.His408Leu) n.733A>T c.809A>T (p.His270Leu) c.902A>T (p.His301Leu) c.623A>T (p.His208Leu) | |
| 10 | g.124398039T>C | CA5733290 | OAT | c.1223A>G (p.His408Arg) n.733A>G c.809A>G (p.His270Arg) c.902A>G (p.His301Arg) c.623A>G (p.His208Arg) | dbSNP ExAC |
| 10 | g.124398039T>G | CA378633157 | OAT | c.1223A>C (p.His408Pro) n.733A>C c.809A>C (p.His270Pro) c.902A>C (p.His301Pro) c.623A>C (p.His208Pro) | |
| 10 | g.124398039T= | CA1942335674 | OAT | c.1223A= (p.His408=) n.733A= c.809A= (p.His270=) c.902A= (p.His301=) c.623A= (p.His208=) | |
| 10 | g.124398040G>A | CA5733291 | OAT | c.1222C>T (p.His408Tyr) n.732C>T c.808C>T (p.His270Tyr) c.901C>T (p.His301Tyr) c.622C>T (p.His208Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124398040G>C | CA215241608 | OAT | c.1222C>G (p.His408Asp) n.732C>G c.808C>G (p.His270Asp) c.901C>G (p.His301Asp) c.622C>G (p.His208Asp) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124398040G= | CA1942335675 | OAT | c.1222C= (p.His408=) n.732C= c.808C= (p.His270=) c.901C= (p.His301=) c.622C= (p.His208=) | |
| 10 | g.124398040G>T | CA378633159 | OAT | c.1222C>A (p.His408Asn) n.732C>A c.808C>A (p.His270Asn) c.901C>A (p.His301Asn) c.622C>A (p.His208Asn) | |
| 10 | g.124398041G>A | CA471762536 | OAT | c.1221C>T (p.Thr407=) n.731C>T c.807C>T (p.Thr269=) c.900C>T (p.Thr300=) c.621C>T (p.Thr207=) | |
| 10 | g.124398041G>C | CA471762537 | OAT | c.1221C>G (p.Thr407=) n.731C>G c.807C>G (p.Thr269=) c.900C>G (p.Thr300=) c.621C>G (p.Thr207=) | ClinVar |
| 10 | g.124398041G>T | CA471762538 | OAT | c.1221C>A (p.Thr407=) n.731C>A c.807C>A (p.Thr269=) c.900C>A (p.Thr300=) c.621C>A (p.Thr207=) | |
| 10 | g.124398042G>A | CA378633160 | OAT | c.1220C>T (p.Thr407Ile) n.730C>T c.806C>T (p.Thr269Ile) c.899C>T (p.Thr300Ile) c.620C>T (p.Thr207Ile) | |
| 10 | g.124398042G>C | CA378633161 | OAT | c.1220C>G (p.Thr407Ser) n.730C>G c.806C>G (p.Thr269Ser) c.899C>G (p.Thr300Ser) c.620C>G (p.Thr207Ser) | |
| 10 | g.124398042G>T | CA378633162 | OAT | c.1220C>A (p.Thr407Asn) n.730C>A c.806C>A (p.Thr269Asn) c.899C>A (p.Thr300Asn) c.620C>A (p.Thr207Asn) | |
| 10 | g.124398043T>A | CA378633163 | OAT | c.1219A>T (p.Thr407Ser) n.729A>T c.805A>T (p.Thr269Ser) c.898A>T (p.Thr300Ser) c.619A>T (p.Thr207Ser) | |
| 10 | g.124398043T>C | CA378633165 | OAT | c.1219A>G (p.Thr407Ala) n.729A>G c.805A>G (p.Thr269Ala) c.898A>G (p.Thr300Ala) c.619A>G (p.Thr207Ala) | |
| 10 | g.124398043T>G | CA378633164 | OAT | c.1219A>C (p.Thr407Pro) n.729A>C c.805A>C (p.Thr269Pro) c.898A>C (p.Thr300Pro) c.619A>C (p.Thr207Pro) | |
| 10 | g.124398044T>A | CA5733292 | OAT | c.1218A>T (p.Pro406=) n.728A>T c.804A>T (p.Pro268=) c.897A>T (p.Pro299=) c.618A>T (p.Pro206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124398044T>C | CA471762539 | OAT | c.1218A>G (p.Pro406=) n.728A>G c.804A>G (p.Pro268=) c.897A>G (p.Pro299=) c.618A>G (p.Pro206=) | |
| 10 | g.124398044T>G | CA471762540 | OAT | c.1218A>C (p.Pro406=) n.728A>C c.804A>C (p.Pro268=) c.897A>C (p.Pro299=) c.618A>C (p.Pro206=) | gnomAD v4 |
| 10 | g.124398044T= | CA1942335676 | OAT | c.1218A= (p.Pro406=) n.728A= c.804A= (p.Pro268=) c.897A= (p.Pro299=) c.618A= (p.Pro206=) | |
| 10 | g.124398045G>A | CA378633166 | OAT | c.1217C>T (p.Pro406Leu) n.727C>T c.803C>T (p.Pro268Leu) c.896C>T (p.Pro299Leu) c.617C>T (p.Pro206Leu) | |
| 10 | g.124398045G>C | CA378633167 | OAT | c.1217C>G (p.Pro406Arg) n.727C>G c.803C>G (p.Pro268Arg) c.896C>G (p.Pro299Arg) c.617C>G (p.Pro206Arg) | |
| 10 | g.124398045G>T | CA378633168 | OAT | c.1217C>A (p.Pro406Gln) n.727C>A c.803C>A (p.Pro268Gln) c.896C>A (p.Pro299Gln) c.617C>A (p.Pro206Gln) | |
| 10 | g.124398046G>A | CA215241632 | OAT | c.1216C>T (p.Pro406Ser) n.726C>T c.802C>T (p.Pro268Ser) c.895C>T (p.Pro299Ser) c.616C>T (p.Pro206Ser) | dbSNP gnomAD v4 COSMIC |
| 10 | g.124398046G>C | CA378633169 | OAT | c.1216C>G (p.Pro406Ala) n.726C>G c.802C>G (p.Pro268Ala) c.895C>G (p.Pro299Ala) c.616C>G (p.Pro206Ala) | |
| 10 | g.124398046G= | CA1942335677 | OAT | c.1216C= (p.Pro406=) n.726C= c.802C= (p.Pro268=) c.895C= (p.Pro299=) c.616C= (p.Pro206=) | |
| 10 | g.124398046G>T | CA378633170 | OAT | c.1216C>A (p.Pro406Thr) n.726C>A c.802C>A (p.Pro268Thr) c.895C>A (p.Pro299Thr) c.616C>A (p.Pro206Thr) | |
| 10 | g.124398047C>A | CA378633171 | OAT | c.1215G>T (p.Lys405Asn) n.725G>T c.801G>T (p.Lys267Asn) c.894G>T (p.Lys298Asn) c.615G>T (p.Lys205Asn) | |
| 10 | g.124398047C>G | CA378633172 | OAT | c.1215G>C (p.Lys405Asn) n.725G>C c.801G>C (p.Lys267Asn) c.894G>C (p.Lys298Asn) c.615G>C (p.Lys205Asn) | |
| 10 | g.124398047C>T | CA471762541 | OAT | c.1215G>A (p.Lys405=) n.725G>A c.801G>A (p.Lys267=) c.894G>A (p.Lys298=) c.615G>A (p.Lys205=) | ClinVar |
| 10 | g.124398048T>A | CA378633173 | OAT | c.1214A>T (p.Lys405Met) n.724A>T c.800A>T (p.Lys267Met) c.893A>T (p.Lys298Met) c.614A>T (p.Lys205Met) | |
| 10 | g.124398048T>C | CA378633174 | OAT | c.1214A>G (p.Lys405Arg) n.724A>G c.800A>G (p.Lys267Arg) c.893A>G (p.Lys298Arg) c.614A>G (p.Lys205Arg) | |
| 10 | g.124398048T>G | CA378633175 | OAT | c.1214A>C (p.Lys405Thr) n.724A>C c.800A>C (p.Lys267Thr) c.893A>C (p.Lys298Thr) c.614A>C (p.Lys205Thr) | |
| 10 | g.124398049T>A | CA378633177 | OAT | c.1213A>T (p.Lys405Ter) n.723A>T c.799A>T (p.Lys267Ter) c.892A>T (p.Lys298Ter) c.613A>T (p.Lys205Ter) | |
| 10 | g.124398049T>C | CA5733293 | OAT | c.1213A>G (p.Lys405Glu) n.723A>G c.799A>G (p.Lys267Glu) c.892A>G (p.Lys298Glu) c.613A>G (p.Lys205Glu) | dbSNP ExAC gnomAD v2 |
| 10 | g.124398049T>G | CA378633176 | OAT | c.1213A>C (p.Lys405Gln) n.723A>C c.799A>C (p.Lys267Gln) c.892A>C (p.Lys298Gln) c.613A>C (p.Lys205Gln) | |
| 10 | g.124398049T= | CA1942335678 | OAT | c.1213A= (p.Lys405=) n.723A= c.799A= (p.Lys267=) c.892A= (p.Lys298=) c.613A= (p.Lys205=) | |
| 10 | g.124398049_124398053dup | CA2574699217 | OAT | c.1209_1213dup (p.Lys405ArgfsTer17) n.719_723dup c.795_799dup (p.Lys267ArgfsTer17) c.888_892dup (p.Lys298ArgfsTer17) c.609_613dup (p.Lys205ArgfsTer17) | |
| 10 | g.124398050G>A | CA471762543 | OAT | c.1212C>T (p.Ala404=) n.722C>T c.798C>T (p.Ala266=) c.891C>T (p.Ala297=) c.612C>T (p.Ala204=) | |
| 10 | g.124398050G>C | CA471762544 | OAT | c.1212C>G (p.Ala404=) n.722C>G c.798C>G (p.Ala266=) c.891C>G (p.Ala297=) c.612C>G (p.Ala204=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124398050G>T | CA471762542 | OAT | c.1212C>A (p.Ala404=) n.722C>A c.798C>A (p.Ala266=) c.891C>A (p.Ala297=) c.612C>A (p.Ala204=) | |
| 10 | g.124398051G>A | CA378633178 | OAT | c.1211C>T (p.Ala404Val) n.721C>T c.797C>T (p.Ala266Val) c.890C>T (p.Ala297Val) c.611C>T (p.Ala204Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398051G>C | CA378633179 | OAT | c.1211C>G (p.Ala404Gly) n.721C>G c.797C>G (p.Ala266Gly) c.890C>G (p.Ala297Gly) c.611C>G (p.Ala204Gly) | |
| 10 | g.124398051G= | CA1942335679 | OAT | c.1211C= (p.Ala404=) n.721C= c.797C= (p.Ala266=) c.890C= (p.Ala297=) c.611C= (p.Ala204=) | |
| 10 | g.124398051G>T | CA378633180 | OAT | c.1211C>A (p.Ala404Asp) n.721C>A c.797C>A (p.Ala266Asp) c.890C>A (p.Ala297Asp) c.611C>A (p.Ala204Asp) | gnomAD v4 |
| 10 | g.124398052C>A | CA378633181 | OAT | c.1210G>T (p.Ala404Ser) n.720G>T c.796G>T (p.Ala266Ser) c.889G>T (p.Ala297Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
| 10 | g.124398052C>G | CA378633182 | OAT | c.1210G>C (p.Ala404Pro) n.720G>C c.796G>C (p.Ala266Pro) c.889G>C (p.Ala297Pro) c.610G>C (p.Ala204Pro) | |
| 10 | g.124398052C>T | CA378633183 | OAT | c.1210G>A (p.Ala404Thr) n.720G>A c.796G>A (p.Ala266Thr) c.889G>A (p.Ala297Thr) c.610G>A (p.Ala204Thr) | COSMIC |
| 10 | g.124398053C>A | CA471762545 | OAT | c.1209G>T (p.Leu403=) n.719G>T c.795G>T (p.Leu265=) c.888G>T (p.Leu296=) c.609G>T (p.Leu203=) | |
| 10 | g.124398053C>G | CA471762546 | OAT | c.1209G>C (p.Leu403=) n.719G>C c.795G>C (p.Leu265=) c.888G>C (p.Leu296=) c.609G>C (p.Leu203=) | |
| 10 | g.124398053C>T | CA471762547 | OAT | c.1209G>A (p.Leu403=) n.719G>A c.795G>A (p.Leu265=) c.888G>A (p.Leu296=) c.609G>A (p.Leu203=) | |
| 10 | g.124398054A= | CA1942335680 | OAT | c.1208T= (p.Leu403=) n.718T= c.794T= (p.Leu265=) c.887T= (p.Leu296=) c.608T= (p.Leu203=) | |
| 10 | g.124398054A>C | CA378633185 | OAT | c.1208T>G (p.Leu403Arg) n.718T>G c.794T>G (p.Leu265Arg) c.887T>G (p.Leu296Arg) c.608T>G (p.Leu203Arg) | |
| 10 | g.124398054A>G | CA5733294 | OAT | c.1208T>C (p.Leu403Pro) n.718T>C c.794T>C (p.Leu265Pro) c.887T>C (p.Leu296Pro) c.608T>C (p.Leu203Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398054A>T | CA378633184 | OAT | c.1208T>A (p.Leu403Gln) n.718T>A c.794T>A (p.Leu265Gln) c.887T>A (p.Leu296Gln) c.608T>A (p.Leu203Gln) | |
| 10 | g.124398055G>A | CA471762548 | OAT | c.1207C>T (p.Leu403=) n.717C>T c.793C>T (p.Leu265=) c.886C>T (p.Leu296=) c.607C>T (p.Leu203=) | |
| 10 | g.124398055G>C | CA378633186 | OAT | c.1207C>G (p.Leu403Val) n.717C>G c.793C>G (p.Leu265Val) c.886C>G (p.Leu296Val) c.607C>G (p.Leu203Val) | |
| 10 | g.124398055G>T | CA378633187 | OAT | c.1207C>A (p.Leu403Met) n.717C>A c.793C>A (p.Leu265Met) c.886C>A (p.Leu296Met) c.607C>A (p.Leu203Met) | |
| 10 | g.124398056A>C | CA471762551 | OAT | c.1206T>G (p.Leu402=) n.716T>G c.792T>G (p.Leu264=) c.885T>G (p.Leu295=) c.606T>G (p.Leu202=) | |
| 10 | g.124398056A>G | CA471762549 | OAT | c.1206T>C (p.Leu402=) n.716T>C c.792T>C (p.Leu264=) c.885T>C (p.Leu295=) c.606T>C (p.Leu202=) | |
| 10 | g.124398056A>T | CA471762550 | OAT | c.1206T>A (p.Leu402=) n.716T>A c.792T>A (p.Leu264=) c.885T>A (p.Leu295=) c.606T>A (p.Leu202=) | |
| 10 | g.124398057A= | CA1942335681 | OAT | c.1205T= (p.Leu402=) n.715T= c.791T= (p.Leu264=) c.884T= (p.Leu295=) c.605T= (p.Leu202=) | |
| 10 | g.124398057A>C | CA378633188 | OAT | c.1205T>G (p.Leu402Arg) n.715T>G c.791T>G (p.Leu264Arg) c.884T>G (p.Leu295Arg) c.605T>G (p.Leu202Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398057A>G | CA113940 | OAT | c.1205T>C (p.Leu402Pro) n.715T>C c.791T>C (p.Leu264Pro) c.884T>C (p.Leu295Pro) c.605T>C (p.Leu202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398057A>T | CA378633189 | OAT | c.1205T>A (p.Leu402His) n.715T>A c.791T>A (p.Leu264His) c.884T>A (p.Leu295His) c.605T>A (p.Leu202His) | |
| 10 | g.124398058G>A | CA378633190 | OAT | c.1204C>T (p.Leu402Phe) n.714C>T c.790C>T (p.Leu264Phe) c.883C>T (p.Leu295Phe) c.604C>T (p.Leu202Phe) | |
| 10 | g.124398058G>C | CA378633192 | OAT | c.1204C>G (p.Leu402Val) n.714C>G c.790C>G (p.Leu264Val) c.883C>G (p.Leu295Val) c.604C>G (p.Leu202Val) | |
| 10 | g.124398058G>T | CA378633191 | OAT | c.1204C>A (p.Leu402Ile) n.714C>A c.790C>A (p.Leu264Ile) c.883C>A (p.Leu295Ile) c.604C>A (p.Leu202Ile) | |
| 10 | g.124398059T>A | CA471762553 | OAT | c.1203A>T (p.Gly401=) n.713A>T c.789A>T (p.Gly263=) c.882A>T (p.Gly294=) c.603A>T (p.Gly201=) | |
| 10 | g.124398059T>C | CA471762554 | OAT | c.1203A>G (p.Gly401=) n.713A>G c.789A>G (p.Gly263=) c.882A>G (p.Gly294=) c.603A>G (p.Gly201=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124398059T>G | CA471762555 | OAT | c.1203A>C (p.Gly401=) n.713A>C c.789A>C (p.Gly263=) c.882A>C (p.Gly294=) c.603A>C (p.Gly201=) | |
| 10 | g.124398059T= | CA1942335682 | OAT | c.1203A= (p.Gly401=) n.713A= c.789A= (p.Gly263=) c.882A= (p.Gly294=) c.603A= (p.Gly201=) | |
| 10 | g.124398060C>A | CA378633193 | OAT | c.1202G>T (p.Gly401Val) n.712G>T c.788G>T (p.Gly263Val) c.881G>T (p.Gly294Val) c.602G>T (p.Gly201Val) | dbSNP |
| 10 | g.124398060C= | CA1942335683 | OAT | c.1202G= (p.Gly401=) n.712G= c.788G= (p.Gly263=) c.881G= (p.Gly294=) c.602G= (p.Gly201=) | |
| 10 | g.124398060C>G | CA378633194 | OAT | c.1202G>C (p.Gly401Ala) n.712G>C c.788G>C (p.Gly263Ala) c.881G>C (p.Gly294Ala) c.602G>C (p.Gly201Ala) | dbSNP |
| 10 | g.124398060C>T | CA5733295 | OAT | c.1202G>A (p.Gly401Glu) n.712G>A c.788G>A (p.Gly263Glu) c.881G>A (p.Gly294Glu) c.602G>A (p.Gly201Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398061C>A | CA113990 | OAT | c.1201G>T (p.Gly401Ter) n.711G>T c.787G>T (p.Gly263Ter) c.880G>T (p.Gly294Ter) c.601G>T (p.Gly201Ter) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124398061C= | CA1942335684 | OAT | c.1201G= (p.Gly401=) n.711G= c.787G= (p.Gly263=) c.880G= (p.Gly294=) c.601G= (p.Gly201=) | |
| 10 | g.124398061C>G | CA378633195 | OAT | c.1201G>C (p.Gly401Arg) n.711G>C c.787G>C (p.Gly263Arg) c.880G>C (p.Gly294Arg) c.601G>C (p.Gly201Arg) | |
| 10 | g.124398061C>T | CA378633196 | OAT | c.1201G>A (p.Gly401Arg) n.711G>A c.787G>A (p.Gly263Arg) c.880G>A (p.Gly294Arg) c.601G>A (p.Gly201Arg) | |
| 10 | g.124398062A>C | CA378633197 | OAT | c.1200T>G (p.Asn400Lys) n.710T>G c.786T>G (p.Asn262Lys) c.879T>G (p.Asn293Lys) c.600T>G (p.Asn200Lys) | |
| 10 | g.124398062A>G | CA471762556 | OAT | c.1200T>C (p.Asn400=) n.710T>C c.786T>C (p.Asn262=) c.879T>C (p.Asn293=) c.600T>C (p.Asn200=) | gnomAD v4 |
| 10 | g.124398062A>T | CA378633198 | OAT | c.1200T>A (p.Asn400Lys) n.710T>A c.786T>A (p.Asn262Lys) c.879T>A (p.Asn293Lys) c.600T>A (p.Asn200Lys) | |
| 10 | g.124398063T>A | CA378633199 | OAT | c.1199A>T (p.Asn400Ile) n.709A>T c.785A>T (p.Asn262Ile) c.878A>T (p.Asn293Ile) c.599A>T (p.Asn200Ile) | |
| 10 | g.124398063T>C | CA378633200 | OAT | c.1199A>G (p.Asn400Ser) n.709A>G c.785A>G (p.Asn262Ser) c.878A>G (p.Asn293Ser) c.599A>G (p.Asn200Ser) | |
| 10 | g.124398063T>G | CA378633201 | OAT | c.1199A>C (p.Asn400Thr) n.709A>C c.785A>C (p.Asn262Thr) c.878A>C (p.Asn293Thr) c.599A>C (p.Asn200Thr) | |
| 10 | g.124398064del | CA2611307204 | OAT | c.1199del (p.Asn400MetfsTer20) n.709del c.785del (p.Asn262MetfsTer20) c.878del (p.Asn293MetfsTer20) c.599del (p.Asn200MetfsTer20) | gnomAD v4 |
| 10 | g.124398064T>A | CA378633202 | OAT | c.1198A>T (p.Asn400Tyr) n.708A>T c.784A>T (p.Asn262Tyr) c.877A>T (p.Asn293Tyr) c.598A>T (p.Asn200Tyr) | ClinVar dbSNP |
| 10 | g.124398064T>C | CA378633204 | OAT | c.1198A>G (p.Asn400Asp) n.708A>G c.784A>G (p.Asn262Asp) c.877A>G (p.Asn293Asp) c.598A>G (p.Asn200Asp) | |
| 10 | g.124398064T>G | CA378633203 | OAT | c.1198A>C (p.Asn400His) n.708A>C c.784A>C (p.Asn262His) c.877A>C (p.Asn293His) c.598A>C (p.Asn200His) | |
| 10 | g.124398065A>C | CA378633205 | OAT | c.1197T>G (p.Asp399Glu) n.707T>G c.783T>G (p.Asp261Glu) c.876T>G (p.Asp292Glu) c.597T>G (p.Asp199Glu) | |
| 10 | g.124398065A>G | CA471762558 | OAT | c.1197T>C (p.Asp399=) n.707T>C c.783T>C (p.Asp261=) c.876T>C (p.Asp292=) c.597T>C (p.Asp199=) | |
| 10 | g.124398065A>T | CA378633206 | OAT | c.1197T>A (p.Asp399Glu) n.707T>A c.783T>A (p.Asp261Glu) c.876T>A (p.Asp292Glu) c.597T>A (p.Asp199Glu) | |
| 10 | g.124398066T>A | CA378633207 | OAT | c.1196A>T (p.Asp399Val) n.706A>T c.782A>T (p.Asp261Val) c.875A>T (p.Asp292Val) c.596A>T (p.Asp199Val) | |
| 10 | g.124398066T>C | CA378633208 | OAT | c.1196A>G (p.Asp399Gly) n.706A>G c.782A>G (p.Asp261Gly) c.875A>G (p.Asp292Gly) c.596A>G (p.Asp199Gly) | gnomAD v4 |
| 10 | g.124398066T>G | CA378633209 | OAT | c.1196A>C (p.Asp399Ala) n.706A>C c.782A>C (p.Asp261Ala) c.875A>C (p.Asp292Ala) c.596A>C (p.Asp199Ala) | |
| 10 | g.124398067C>A | CA378633210 | OAT | c.1195G>T (p.Asp399Tyr) n.705G>T c.781G>T (p.Asp261Tyr) c.874G>T (p.Asp292Tyr) c.595G>T (p.Asp199Tyr) | |
| 10 | g.124398067C>G | CA378633211 | OAT | c.1195G>C (p.Asp399His) n.705G>C c.781G>C (p.Asp261His) c.874G>C (p.Asp292His) c.595G>C (p.Asp199His) | gnomAD v4 |
| 10 | g.124398067C>T | CA378633212 | OAT | c.1195G>A (p.Asp399Asn) n.705G>A c.781G>A (p.Asp261Asn) c.874G>A (p.Asp292Asn) c.595G>A (p.Asp199Asn) | |
| 10 | g.124398068T>A | CA471762559 | OAT | c.1194A>T (p.Arg398=) n.704A>T c.780A>T (p.Arg260=) c.873A>T (p.Arg291=) c.594A>T (p.Arg198=) | |
| 10 | g.124398068T>C | CA471762560 | OAT | c.1194A>G (p.Arg398=) n.704A>G c.780A>G (p.Arg260=) c.873A>G (p.Arg291=) c.594A>G (p.Arg198=) | |
| 10 | g.124398068T>G | CA471762561 | OAT | c.1194A>C (p.Arg398=) n.704A>C c.780A>C (p.Arg260=) c.873A>C (p.Arg291=) c.594A>C (p.Arg198=) | gnomAD v4 |
| 10 | g.124398069C>A | CA378633213 | OAT | c.1193G>T (p.Arg398Leu) n.703G>T c.779G>T (p.Arg260Leu) c.872G>T (p.Arg291Leu) c.593G>T (p.Arg198Leu) | |
| 10 | g.124398069C= | CA1942335685 | OAT | c.1193G= (p.Arg398=) n.703G= c.779G= (p.Arg260=) c.872G= (p.Arg291=) c.593G= (p.Arg198=) | |
| 10 | g.124398069C>G | CA378633214 | OAT | c.1193G>C (p.Arg398Pro) n.703G>C c.779G>C (p.Arg260Pro) c.872G>C (p.Arg291Pro) c.593G>C (p.Arg198Pro) | gnomAD v4 |
| 10 | g.124398069C>T | CA378633215 | OAT | c.1193G>A (p.Arg398Gln) n.703G>A c.779G>A (p.Arg260Gln) c.872G>A (p.Arg291Gln) c.593G>A (p.Arg198Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.124398070G>A | CA5733296 | OAT | c.1192C>T (p.Arg398Ter) n.702C>T c.778C>T (p.Arg260Ter) c.871C>T (p.Arg291Ter) c.592C>T (p.Arg198Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398070G>C | CA378633216 | OAT | c.1192C>G (p.Arg398Gly) n.702C>G c.778C>G (p.Arg260Gly) c.871C>G (p.Arg291Gly) c.592C>G (p.Arg198Gly) | dbSNP gnomAD v4 |
| 10 | g.124398070G= | CA1942335686 | OAT | c.1192C= (p.Arg398=) n.702C= c.778C= (p.Arg260=) c.871C= (p.Arg291=) c.592C= (p.Arg198=) | |
| 10 | g.124398070G>T | CA471762563 | OAT | c.1192C>A (p.Arg398=) n.702C>A c.778C>A (p.Arg260=) c.871C>A (p.Arg291=) c.592C>A (p.Arg198=) | |
| 10 | g.124398071A>C | CA471762564 | OAT | c.1191T>G (p.Leu397=) n.701T>G c.777T>G (p.Leu259=) c.870T>G (p.Leu290=) c.591T>G (p.Leu197=) | |
| 10 | g.124398071A>G | CA471762565 | OAT | c.1191T>C (p.Leu397=) n.701T>C c.777T>C (p.Leu259=) c.870T>C (p.Leu290=) c.591T>C (p.Leu197=) | |
| 10 | g.124398071A>T | CA471762566 | OAT | c.1191T>A (p.Leu397=) n.701T>A c.777T>A (p.Leu259=) c.870T>A (p.Leu290=) c.591T>A (p.Leu197=) | |
| 10 | g.124398072A>C | CA378633219 | OAT | c.1190T>G (p.Leu397Arg) n.700T>G c.776T>G (p.Leu259Arg) c.869T>G (p.Leu290Arg) c.590T>G (p.Leu197Arg) | dbSNP |
| 10 | g.124398072A>G | CA378633218 | OAT | c.1190T>C (p.Leu397Pro) n.700T>C c.776T>C (p.Leu259Pro) c.869T>C (p.Leu290Pro) c.590T>C (p.Leu197Pro) | |
| 10 | g.124398072A>T | CA378633217 | OAT | c.1190T>A (p.Leu397His) n.700T>A c.776T>A (p.Leu259His) c.869T>A (p.Leu290His) c.590T>A (p.Leu197His) | |
| 10 | g.124398073G>A | CA378633220 | OAT | c.1189C>T (p.Leu397Phe) n.699C>T c.775C>T (p.Leu259Phe) c.868C>T (p.Leu290Phe) c.589C>T (p.Leu197Phe) | |
| 10 | g.124398073G>C | CA378633221 | OAT | c.1189C>G (p.Leu397Val) n.699C>G c.775C>G (p.Leu259Val) c.868C>G (p.Leu290Val) c.589C>G (p.Leu197Val) | |
| 10 | g.124398073G>T | CA378633222 | OAT | c.1189C>A (p.Leu397Ile) n.699C>A c.775C>A (p.Leu259Ile) c.868C>A (p.Leu290Ile) c.589C>A (p.Leu197Ile) | |
| 10 | g.124398074T>A | CA471762567 | OAT | c.1188A>T (p.Arg396=) n.698A>T c.774A>T (p.Arg258=) c.867A>T (p.Arg289=) c.588A>T (p.Arg196=) | |
| 10 | g.124398074T>C | CA471762568 | OAT | c.1188A>G (p.Arg396=) n.698A>G c.774A>G (p.Arg258=) c.867A>G (p.Arg289=) c.588A>G (p.Arg196=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.124398074T>G | CA471762569 | OAT | c.1188A>C (p.Arg396=) n.698A>C c.774A>C (p.Arg258=) c.867A>C (p.Arg289=) c.588A>C (p.Arg196=) | |
| 10 | g.124398075C>A | CA378633223 | OAT | c.1187G>T (p.Arg396Leu) n.697G>T c.773G>T (p.Arg258Leu) c.866G>T (p.Arg289Leu) c.587G>T (p.Arg196Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398075C= | CA1942335687 | OAT | c.1187G= (p.Arg396=) n.697G= c.773G= (p.Arg258=) c.866G= (p.Arg289=) c.587G= (p.Arg196=) | |
| 10 | g.124398075C>G | CA378633224 | OAT | c.1187G>C (p.Arg396Pro) n.697G>C c.773G>C (p.Arg258Pro) c.866G>C (p.Arg289Pro) c.587G>C (p.Arg196Pro) | |
| 10 | g.124398075C>T | CA5733297 | OAT | c.1187G>A (p.Arg396Gln) n.697G>A c.773G>A (p.Arg258Gln) c.866G>A (p.Arg289Gln) c.587G>A (p.Arg196Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398076G>A | CA113920 | OAT | c.1186C>T (p.Arg396Ter) n.696C>T c.772C>T (p.Arg258Ter) c.865C>T (p.Arg289Ter) c.586C>T (p.Arg196Ter) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124398076G>C | CA215241728 | OAT | c.1186C>G (p.Arg396Gly) n.696C>G c.772C>G (p.Arg258Gly) c.865C>G (p.Arg289Gly) c.586C>G (p.Arg196Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398076G= | CA1942335688 | OAT | c.1186C= (p.Arg396=) n.696C= c.772C= (p.Arg258=) c.865C= (p.Arg289=) c.586C= (p.Arg196=) | |
| 10 | g.124398076G>T | CA471762570 | OAT | c.1186C>A (p.Arg396=) n.696C>A c.772C>A (p.Arg258=) c.865C>A (p.Arg289=) c.586C>A (p.Arg196=) | ClinVar dbSNP |