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 |
|---|---|---|---|---|---|
| 3 | g.139350183G>A | CA117061 | MRPS22 | c.299G>A (p.Arg100His) c.509G>A (p.Arg170His) n.523G>A c.128G>A (p.Arg43His) c.*150G>A (n.*150G>A) n.2377G>A n.532G>A c.506G>A (p.Arg169His) c.524G>A (p.Arg175His) c.602G>A c.386G>A (p.Arg129His) c.48G>A n.509G>A n.249G>A c.*106G>A (n.*106G>A) c.383G>A (p.Arg128His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.139350183G>C | CA354760856 | MRPS22 | c.299G>C (p.Arg100Pro) c.509G>C (p.Arg170Pro) n.523G>C c.128G>C (p.Arg43Pro) c.*150G>C (n.*150G>C) n.2377G>C n.532G>C c.506G>C (p.Arg169Pro) c.524G>C (p.Arg175Pro) c.602G>C c.386G>C (p.Arg129Pro) c.48G>C n.509G>C n.249G>C c.*106G>C (n.*106G>C) c.383G>C (p.Arg128Pro) | |
| 3 | g.139350183G= | CA1405584384 | MRPS22 | c.299G= (p.Arg100=) c.509G= (p.Arg170=) n.523G= c.128G= (p.Arg43=) c.*150G= (n.*150G=) n.2377G= n.532G= c.506G= (p.Arg169=) c.524G= (p.Arg175=) c.602G= c.386G= (p.Arg129=) c.48G= n.509G= n.249G= c.*106G= (n.*106G=) c.383G= (p.Arg128=) | |
| 3 | g.139350183G>T | CA354760858 | MRPS22 | c.299G>T (p.Arg100Leu) c.509G>T (p.Arg170Leu) n.523G>T c.128G>T (p.Arg43Leu) c.*150G>T (n.*150G>T) n.2377G>T n.532G>T c.506G>T (p.Arg169Leu) c.524G>T (p.Arg175Leu) c.602G>T c.386G>T (p.Arg129Leu) c.48G>T n.509G>T n.249G>T c.*106G>T (n.*106G>T) c.383G>T (p.Arg128Leu) | |
| 3 | g.139350184T>A | CA435881704 | MRPS22 | c.300T>A (p.Arg100=) c.510T>A (p.Arg170=) n.524T>A c.129T>A (p.Arg43=) c.*151T>A (n.*151T>A) n.2378T>A n.533T>A c.507T>A (p.Arg169=) c.525T>A (p.Arg175=) c.603T>A c.387T>A (p.Arg129=) c.49T>A n.510T>A n.250T>A c.*107T>A (n.*107T>A) c.384T>A (p.Arg128=) | |
| 3 | g.139350184T>C | CA435881708 | MRPS22 | c.300T>C (p.Arg100=) c.510T>C (p.Arg170=) n.524T>C c.129T>C (p.Arg43=) c.*151T>C (n.*151T>C) n.2378T>C n.533T>C c.507T>C (p.Arg169=) c.525T>C (p.Arg175=) c.603T>C c.387T>C (p.Arg129=) c.49T>C n.510T>C n.250T>C c.*107T>C (n.*107T>C) c.384T>C (p.Arg128=) | |
| 3 | g.139350184T>G | CA435881710 | MRPS22 | c.300T>G (p.Arg100=) c.510T>G (p.Arg170=) n.524T>G c.129T>G (p.Arg43=) c.*151T>G (n.*151T>G) n.2378T>G n.533T>G c.507T>G (p.Arg169=) c.525T>G (p.Arg175=) c.603T>G c.387T>G (p.Arg129=) c.49T>G n.510T>G n.250T>G c.*107T>G (n.*107T>G) c.384T>G (p.Arg128=) | |
| 3 | g.139350185T>A | CA354760859 | MRPS22 | c.301T>A (p.Phe101Ile) c.511T>A (p.Phe171Ile) n.525T>A c.130T>A (p.Phe44Ile) c.*152T>A (n.*152T>A) n.2379T>A n.534T>A c.508T>A (p.Phe170Ile) c.526T>A (p.Phe176Ile) c.604T>A c.388T>A (p.Phe130Ile) c.50T>A n.511T>A n.251T>A c.*108T>A (n.*108T>A) c.385T>A (p.Phe129Ile) | |
| 3 | g.139350185T>C | CA354760860 | MRPS22 | c.301T>C (p.Phe101Leu) c.511T>C (p.Phe171Leu) n.525T>C c.130T>C (p.Phe44Leu) c.*152T>C (n.*152T>C) n.2379T>C n.534T>C c.508T>C (p.Phe170Leu) c.526T>C (p.Phe176Leu) c.604T>C c.388T>C (p.Phe130Leu) c.50T>C n.511T>C n.251T>C c.*108T>C (n.*108T>C) c.385T>C (p.Phe129Leu) | |
| 3 | g.139350185T>G | CA354760862 | MRPS22 | c.301T>G (p.Phe101Val) c.511T>G (p.Phe171Val) n.525T>G c.130T>G (p.Phe44Val) c.*152T>G (n.*152T>G) n.2379T>G n.534T>G c.508T>G (p.Phe170Val) c.526T>G (p.Phe176Val) c.604T>G c.388T>G (p.Phe130Val) c.50T>G n.511T>G n.251T>G c.*108T>G (n.*108T>G) c.385T>G (p.Phe129Val) | |
| 3 | g.139350186T>A | CA354760864 | MRPS22 | c.302T>A (p.Phe101Tyr) c.512T>A (p.Phe171Tyr) n.526T>A c.131T>A (p.Phe44Tyr) c.*153T>A (n.*153T>A) n.2380T>A n.535T>A c.509T>A (p.Phe170Tyr) c.527T>A (p.Phe176Tyr) c.605T>A c.389T>A (p.Phe130Tyr) c.51T>A n.512T>A n.252T>A c.*109T>A (n.*109T>A) c.386T>A (p.Phe129Tyr) | gnomAD v4 |
| 3 | g.139350186T>C | CA354760866 | MRPS22 | c.302T>C (p.Phe101Ser) c.512T>C (p.Phe171Ser) n.526T>C c.131T>C (p.Phe44Ser) c.*153T>C (n.*153T>C) n.2380T>C n.535T>C c.509T>C (p.Phe170Ser) c.527T>C (p.Phe176Ser) c.605T>C c.389T>C (p.Phe130Ser) c.51T>C n.512T>C n.252T>C c.*109T>C (n.*109T>C) c.386T>C (p.Phe129Ser) | |
| 3 | g.139350186T>G | CA354760867 | MRPS22 | c.302T>G (p.Phe101Cys) c.512T>G (p.Phe171Cys) n.526T>G c.131T>G (p.Phe44Cys) c.*153T>G (n.*153T>G) n.2380T>G n.535T>G c.509T>G (p.Phe170Cys) c.527T>G (p.Phe176Cys) c.605T>G c.389T>G (p.Phe130Cys) c.51T>G n.512T>G n.252T>G c.*109T>G (n.*109T>G) c.386T>G (p.Phe129Cys) | gnomAD v4 |
| 3 | g.139350187T>A | CA354760868 | MRPS22 | c.303T>A (p.Phe101Leu) c.513T>A (p.Phe171Leu) n.527T>A c.132T>A (p.Phe44Leu) c.*154T>A (n.*154T>A) n.2381T>A n.536T>A c.510T>A (p.Phe170Leu) c.528T>A (p.Phe176Leu) c.606T>A c.390T>A (p.Phe130Leu) c.52T>A n.513T>A n.253T>A c.*110T>A (n.*110T>A) c.387T>A (p.Phe129Leu) | dbSNP |
| 3 | g.139350187T>C | CA435881733 | MRPS22 | c.303T>C (p.Phe101=) c.513T>C (p.Phe171=) n.527T>C c.132T>C (p.Phe44=) c.*154T>C (n.*154T>C) n.2381T>C n.536T>C c.510T>C (p.Phe170=) c.528T>C (p.Phe176=) c.606T>C c.390T>C (p.Phe130=) c.52T>C n.513T>C n.253T>C c.*110T>C (n.*110T>C) c.387T>C (p.Phe129=) | |
| 3 | g.139350187T>G | CA354760870 | MRPS22 | c.303T>G (p.Phe101Leu) c.513T>G (p.Phe171Leu) n.527T>G c.132T>G (p.Phe44Leu) c.*154T>G (n.*154T>G) n.2381T>G n.536T>G c.510T>G (p.Phe170Leu) c.528T>G (p.Phe176Leu) c.606T>G c.390T>G (p.Phe130Leu) c.52T>G n.513T>G n.253T>G c.*110T>G (n.*110T>G) c.387T>G (p.Phe129Leu) | |
| 3 | g.139350187T= | CA1405584385 | MRPS22 | c.303T= (p.Phe101=) c.513T= (p.Phe171=) n.527T= c.132T= (p.Phe44=) c.*154T= (n.*154T=) n.2381T= n.536T= c.510T= (p.Phe170=) c.528T= (p.Phe176=) c.606T= c.390T= (p.Phe130=) c.52T= n.513T= n.253T= c.*110T= (n.*110T=) c.387T= (p.Phe129=) | |
| 3 | g.139350188A= | CA1405584386 | MRPS22 | c.304A= (p.Ile102=) c.514A= (p.Ile172=) n.528A= c.133A= (p.Ile45=) c.*155A= (n.*155A=) n.2382A= n.537A= c.511A= (p.Ile171=) c.529A= (p.Ile177=) c.607A= c.391A= (p.Ile131=) c.53A= n.514A= n.254A= c.*111A= (n.*111A=) c.388A= (p.Ile130=) | |
| 3 | g.139350188A>C | CA354760873 | MRPS22 | c.304A>C (p.Ile102Leu) c.514A>C (p.Ile172Leu) n.528A>C c.133A>C (p.Ile45Leu) c.*155A>C (n.*155A>C) n.2382A>C n.537A>C c.511A>C (p.Ile171Leu) c.529A>C (p.Ile177Leu) c.607A>C c.391A>C (p.Ile131Leu) c.53A>C n.514A>C n.254A>C c.*111A>C (n.*111A>C) c.388A>C (p.Ile130Leu) | |
| 3 | g.139350188A>G | CA83994464 | MRPS22 | c.304A>G (p.Ile102Val) c.514A>G (p.Ile172Val) n.528A>G c.133A>G (p.Ile45Val) c.*155A>G (n.*155A>G) n.2382A>G n.537A>G c.511A>G (p.Ile171Val) c.529A>G (p.Ile177Val) c.607A>G c.391A>G (p.Ile131Val) c.53A>G n.514A>G n.254A>G c.*111A>G (n.*111A>G) c.388A>G (p.Ile130Val) | dbSNP |
| 3 | g.139350188A>T | CA354760872 | MRPS22 | c.304A>T (p.Ile102Phe) c.514A>T (p.Ile172Phe) n.528A>T c.133A>T (p.Ile45Phe) c.*155A>T (n.*155A>T) n.2382A>T n.537A>T c.511A>T (p.Ile171Phe) c.529A>T (p.Ile177Phe) c.607A>T c.391A>T (p.Ile131Phe) c.53A>T n.514A>T n.254A>T c.*111A>T (n.*111A>T) c.388A>T (p.Ile130Phe) | |
| 3 | g.139350189T>A | CA354760878 | MRPS22 | c.305T>A (p.Ile102Asn) c.515T>A (p.Ile172Asn) n.529T>A c.134T>A (p.Ile45Asn) c.*156T>A (n.*156T>A) n.2383T>A n.538T>A c.512T>A (p.Ile171Asn) c.530T>A (p.Ile177Asn) c.608T>A c.392T>A (p.Ile131Asn) c.54T>A n.515T>A n.255T>A c.*112T>A (n.*112T>A) c.389T>A (p.Ile130Asn) | |
| 3 | g.139350189T>C | CA354760876 | MRPS22 | c.305T>C (p.Ile102Thr) c.515T>C (p.Ile172Thr) n.529T>C c.134T>C (p.Ile45Thr) c.*156T>C (n.*156T>C) n.2383T>C n.538T>C c.512T>C (p.Ile171Thr) c.530T>C (p.Ile177Thr) c.608T>C c.392T>C (p.Ile131Thr) c.54T>C n.515T>C n.255T>C c.*112T>C (n.*112T>C) c.389T>C (p.Ile130Thr) | |
| 3 | g.139350189T>G | CA354760879 | MRPS22 | c.305T>G (p.Ile102Ser) c.515T>G (p.Ile172Ser) n.529T>G c.134T>G (p.Ile45Ser) c.*156T>G (n.*156T>G) n.2383T>G n.538T>G c.512T>G (p.Ile171Ser) c.530T>G (p.Ile177Ser) c.608T>G c.392T>G (p.Ile131Ser) c.54T>G n.515T>G n.255T>G c.*112T>G (n.*112T>G) c.389T>G (p.Ile130Ser) | |
| 3 | g.139350190T>A | CA435881762 | MRPS22 | c.306T>A (p.Ile102=) c.516T>A (p.Ile172=) n.530T>A c.135T>A (p.Ile45=) c.*157T>A (n.*157T>A) n.2384T>A n.539T>A c.513T>A (p.Ile171=) c.531T>A (p.Ile177=) c.609T>A c.393T>A (p.Ile131=) c.55T>A n.516T>A n.256T>A c.*113T>A (n.*113T>A) c.390T>A (p.Ile130=) | |
| 3 | g.139350190T>C | CA435881764 | MRPS22 | c.306T>C (p.Ile102=) c.516T>C (p.Ile172=) n.530T>C c.135T>C (p.Ile45=) c.*157T>C (n.*157T>C) n.2384T>C n.539T>C c.513T>C (p.Ile171=) c.531T>C (p.Ile177=) c.609T>C c.393T>C (p.Ile131=) c.55T>C n.516T>C n.256T>C c.*113T>C (n.*113T>C) c.390T>C (p.Ile130=) | dbSNP |
| 3 | g.139350190T>G | CA354760881 | MRPS22 | c.306T>G (p.Ile102Met) c.516T>G (p.Ile172Met) n.530T>G c.135T>G (p.Ile45Met) c.*157T>G (n.*157T>G) n.2384T>G n.539T>G c.513T>G (p.Ile171Met) c.531T>G (p.Ile177Met) c.609T>G c.393T>G (p.Ile131Met) c.55T>G n.516T>G n.256T>G c.*113T>G (n.*113T>G) c.390T>G (p.Ile130Met) | |
| 3 | g.139350190T= | CA1405584388 | MRPS22 | c.306T= (p.Ile102=) c.516T= (p.Ile172=) n.530T= c.135T= (p.Ile45=) c.*157T= (n.*157T=) n.2384T= n.539T= c.513T= (p.Ile171=) c.531T= (p.Ile177=) c.609T= c.393T= (p.Ile131=) c.55T= n.516T= n.256T= c.*113T= (n.*113T=) c.390T= (p.Ile130=) | |
| 3 | g.139350190_139350193delinsTGTC | CA1405584387 | MRPS22 | c.306_309delinsTGTC (p.Ile102=) c.516_519delinsTGTC (p.Ile172=) n.530_533delinsTGTC c.135_138delinsTGTC (p.Ile45=) c.*157_*160delinsTGTC (n.*157_*160delinsTGTC) n.2384_2387delinsTGTC n.539_542delinsTGTC c.513_516delinsTGTC (p.Ile171=) c.531_534delinsTGTC (p.Ile177=) c.609_612delinsTGTC c.393_396delinsTGTC (p.Ile131=) c.55_58delinsTGTC n.516_519delinsTGTC n.256_259delinsTGTC c.*113_*116delinsTGTC (n.*113_*116delinsTGTC) c.390_393delinsTGTC (p.Ile130=) | |
| 3 | g.139350191G>A | CA354760883 | MRPS22 | c.307G>A (p.Val103Ile) c.517G>A (p.Val173Ile) n.531G>A c.136G>A (p.Val46Ile) c.*158G>A (n.*158G>A) n.2385G>A n.540G>A c.514G>A (p.Val172Ile) c.532G>A (p.Val178Ile) c.610G>A c.394G>A (p.Val132Ile) c.56G>A n.517G>A n.257G>A c.*114G>A (n.*114G>A) c.391G>A (p.Val131Ile) | dbSNP |
| 3 | g.139350191G>C | CA354760885 | MRPS22 | c.307G>C (p.Val103Leu) c.517G>C (p.Val173Leu) n.531G>C c.136G>C (p.Val46Leu) c.*158G>C (n.*158G>C) n.2385G>C n.540G>C c.514G>C (p.Val172Leu) c.532G>C (p.Val178Leu) c.610G>C c.394G>C (p.Val132Leu) c.56G>C n.517G>C n.257G>C c.*114G>C (n.*114G>C) c.391G>C (p.Val131Leu) | |
| 3 | g.139350191G= | CA1405584389 | MRPS22 | c.307G= (p.Val103=) c.517G= (p.Val173=) n.531G= c.136G= (p.Val46=) c.*158G= (n.*158G=) n.2385G= n.540G= c.514G= (p.Val172=) c.532G= (p.Val178=) c.610G= c.394G= (p.Val132=) c.56G= n.517G= n.257G= c.*114G= (n.*114G=) c.391G= (p.Val131=) | |
| 3 | g.139350191G>T | CA354760886 | MRPS22 | c.307G>T (p.Val103Phe) c.517G>T (p.Val173Phe) n.531G>T c.136G>T (p.Val46Phe) c.*158G>T (n.*158G>T) n.2385G>T n.540G>T c.514G>T (p.Val172Phe) c.532G>T (p.Val178Phe) c.610G>T c.394G>T (p.Val132Phe) c.56G>T n.517G>T n.257G>T c.*114G>T (n.*114G>T) c.391G>T (p.Val131Phe) | |
| 3 | g.139350194_139350196del | CA83994465 | MRPS22 | c.310_312del (p.Val104del) c.520_522del (p.Val174del) n.534_536del c.139_141del (p.Val47del) c.*161_*163del (n.*161_*163del) n.2388_2390del n.543_545del c.517_519del (p.Val173del) c.535_537del (p.Val179del) c.613_615del c.397_399del (p.Val133del) c.59_61del n.520_522del n.260_262del c.*117_*119del (n.*117_*119del) c.394_396del (p.Val132del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.139350192T>A | CA354760888 | MRPS22 | c.308T>A (p.Val103Asp) c.518T>A (p.Val173Asp) n.532T>A c.137T>A (p.Val46Asp) c.*159T>A (n.*159T>A) n.2386T>A n.541T>A c.515T>A (p.Val172Asp) c.533T>A (p.Val178Asp) c.611T>A c.395T>A (p.Val132Asp) c.57T>A n.518T>A n.258T>A c.*115T>A (n.*115T>A) c.392T>A (p.Val131Asp) | |
| 3 | g.139350192T>C | CA354760890 | MRPS22 | c.308T>C (p.Val103Ala) c.518T>C (p.Val173Ala) n.532T>C c.137T>C (p.Val46Ala) c.*159T>C (n.*159T>C) n.2386T>C n.541T>C c.515T>C (p.Val172Ala) c.533T>C (p.Val178Ala) c.611T>C c.395T>C (p.Val132Ala) c.57T>C n.518T>C n.258T>C c.*115T>C (n.*115T>C) c.392T>C (p.Val131Ala) | |
| 3 | g.139350192T>G | CA354760891 | MRPS22 | c.308T>G (p.Val103Gly) c.518T>G (p.Val173Gly) n.532T>G c.137T>G (p.Val46Gly) c.*159T>G (n.*159T>G) n.2386T>G n.541T>G c.515T>G (p.Val172Gly) c.533T>G (p.Val178Gly) c.611T>G c.395T>G (p.Val132Gly) c.57T>G n.518T>G n.258T>G c.*115T>G (n.*115T>G) c.392T>G (p.Val131Gly) | |
| 3 | g.139350193C>A | CA435881784 | MRPS22 | c.309C>A (p.Val103=) c.519C>A (p.Val173=) n.533C>A c.138C>A (p.Val46=) c.*160C>A (n.*160C>A) n.2387C>A n.542C>A c.516C>A (p.Val172=) c.534C>A (p.Val178=) c.612C>A c.396C>A (p.Val132=) c.58C>A n.519C>A n.259C>A c.*116C>A (n.*116C>A) c.393C>A (p.Val131=) | COSMIC |
| 3 | g.139350193C= | CA1405584390 | MRPS22 | c.309C= (p.Val103=) c.519C= (p.Val173=) n.533C= c.138C= (p.Val46=) c.*160C= (n.*160C=) n.2387C= n.542C= c.516C= (p.Val172=) c.534C= (p.Val178=) c.612C= c.396C= (p.Val132=) c.58C= n.519C= n.259C= c.*116C= (n.*116C=) c.393C= (p.Val131=) | |
| 3 | g.139350193C>G | CA435881790 | MRPS22 | c.309C>G (p.Val103=) c.519C>G (p.Val173=) n.533C>G c.138C>G (p.Val46=) c.*160C>G (n.*160C>G) n.2387C>G n.542C>G c.516C>G (p.Val172=) c.534C>G (p.Val178=) c.612C>G c.396C>G (p.Val132=) c.58C>G n.519C>G n.259C>G c.*116C>G (n.*116C>G) c.393C>G (p.Val131=) | |
| 3 | g.139350193C>T | CA2640746 | MRPS22 | c.309C>T (p.Val103=) c.519C>T (p.Val173=) n.533C>T c.138C>T (p.Val46=) c.*160C>T (n.*160C>T) n.2387C>T n.542C>T c.516C>T (p.Val172=) c.534C>T (p.Val178=) c.612C>T c.396C>T (p.Val132=) c.58C>T n.519C>T n.259C>T c.*116C>T (n.*116C>T) c.393C>T (p.Val131=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.139350194G>A | CA83994467 | MRPS22 | c.310G>A (p.Val104Ile) c.520G>A (p.Val174Ile) n.534G>A c.139G>A (p.Val47Ile) c.*161G>A (n.*161G>A) n.2388G>A n.543G>A c.517G>A (p.Val173Ile) c.535G>A (p.Val179Ile) c.613G>A c.397G>A (p.Val133Ile) c.59G>A n.520G>A n.260G>A c.*117G>A (n.*117G>A) c.394G>A (p.Val132Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.139350194G>C | CA354760895 | MRPS22 | c.310G>C (p.Val104Leu) c.520G>C (p.Val174Leu) n.534G>C c.139G>C (p.Val47Leu) c.*161G>C (n.*161G>C) n.2388G>C n.543G>C c.517G>C (p.Val173Leu) c.535G>C (p.Val179Leu) c.613G>C c.397G>C (p.Val133Leu) c.59G>C n.520G>C n.260G>C c.*117G>C (n.*117G>C) c.394G>C (p.Val132Leu) | |
| 3 | g.139350194G= | CA1405584391 | MRPS22 | c.310G= (p.Val104=) c.520G= (p.Val174=) n.534G= c.139G= (p.Val47=) c.*161G= (n.*161G=) n.2388G= n.543G= c.517G= (p.Val173=) c.535G= (p.Val179=) c.613G= c.397G= (p.Val133=) c.59G= n.520G= n.260G= c.*117G= (n.*117G=) c.394G= (p.Val132=) | |
| 3 | g.139350194G>T | CA354760896 | MRPS22 | c.310G>T (p.Val104Phe) c.520G>T (p.Val174Phe) n.534G>T c.139G>T (p.Val47Phe) c.*161G>T (n.*161G>T) n.2388G>T n.543G>T c.517G>T (p.Val173Phe) c.535G>T (p.Val179Phe) c.613G>T c.397G>T (p.Val133Phe) c.59G>T n.520G>T n.260G>T c.*117G>T (n.*117G>T) c.394G>T (p.Val132Phe) | |
| 3 | g.139350195T>A | CA354760898 | MRPS22 | c.311T>A (p.Val104Asp) c.521T>A (p.Val174Asp) n.535T>A c.140T>A (p.Val47Asp) c.*162T>A (n.*162T>A) n.2389T>A n.544T>A c.518T>A (p.Val173Asp) c.536T>A (p.Val179Asp) c.614T>A c.398T>A (p.Val133Asp) c.60T>A n.521T>A n.261T>A c.*118T>A (n.*118T>A) c.395T>A (p.Val132Asp) | |
| 3 | g.139350195T>C | CA354760902 | MRPS22 | c.311T>C (p.Val104Ala) c.521T>C (p.Val174Ala) n.535T>C c.140T>C (p.Val47Ala) c.*162T>C (n.*162T>C) n.2389T>C n.544T>C c.518T>C (p.Val173Ala) c.536T>C (p.Val179Ala) c.614T>C c.398T>C (p.Val133Ala) c.60T>C n.521T>C n.261T>C c.*118T>C (n.*118T>C) c.395T>C (p.Val132Ala) | |
| 3 | g.139350195T>G | CA354760900 | MRPS22 | c.311T>G (p.Val104Gly) c.521T>G (p.Val174Gly) n.535T>G c.140T>G (p.Val47Gly) c.*162T>G (n.*162T>G) n.2389T>G n.544T>G c.518T>G (p.Val173Gly) c.536T>G (p.Val179Gly) c.614T>G c.398T>G (p.Val133Gly) c.60T>G n.521T>G n.261T>G c.*118T>G (n.*118T>G) c.395T>G (p.Val132Gly) | |
| 3 | g.139350196C>A | CA435881808 | MRPS22 | c.312C>A (p.Val104=) c.522C>A (p.Val174=) n.536C>A c.141C>A (p.Val47=) c.*163C>A (n.*163C>A) n.2390C>A n.545C>A c.519C>A (p.Val173=) c.537C>A (p.Val179=) c.615C>A c.399C>A (p.Val133=) c.61C>A n.522C>A n.262C>A c.*119C>A (n.*119C>A) c.396C>A (p.Val132=) | |
| 3 | g.139350196C= | CA1405584392 | MRPS22 | c.312C= (p.Val104=) c.522C= (p.Val174=) n.536C= c.141C= (p.Val47=) c.*163C= (n.*163C=) n.2390C= n.545C= c.519C= (p.Val173=) c.537C= (p.Val179=) c.615C= c.399C= (p.Val133=) c.61C= n.522C= n.262C= c.*119C= (n.*119C=) c.396C= (p.Val132=) |