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 |
|---|---|---|---|---|---|
| 12 | g.65328583_65328586del | CA2619673747 | MSRB3 | c.243_246del (p.Cys82GlufsTer23) c.264_267del (p.Cys89GlufsTer23) c.48_51del (p.Cys17GlufsTer23) c.118_121del c.289_292del c.*89+19928_*89+19931del (n.*89+19928_*89+19931del) c.396_399del (p.Cys133GlufsTer?) | gnomAD v4 |
| 12 | g.65328584del | CA2619673748 | MSRB3 | c.244del (p.Cys82ValfsTer24) c.265del (p.Cys89ValfsTer24) c.49del (p.Cys17ValfsTer24) c.119del c.290del c.*89+19929del (n.*89+19929del) c.397del (p.Cys133ValfsTer?) | gnomAD v4 |
| 12 | g.65328584T>A | CA385676097 | MSRB3 | c.244T>A (p.Cys82Ser) c.265T>A (p.Cys89Ser) c.49T>A (p.Cys17Ser) c.119T>A c.290T>A c.*89+19929T>A (n.*89+19929T>A) c.397T>A (p.Cys133Ser) | |
| 12 | g.65328584T>C | CA385676098 | MSRB3 | c.244T>C (p.Cys82Arg) c.265T>C (p.Cys89Arg) c.49T>C (p.Cys17Arg) c.119T>C c.290T>C c.*89+19929T>C (n.*89+19929T>C) c.397T>C (p.Cys133Arg) | |
| 12 | g.65328584T>G | CA129636 | MSRB3 | c.244T>G (p.Cys82Gly) c.265T>G (p.Cys89Gly) c.49T>G (p.Cys17Gly) c.119T>G c.290T>G c.*89+19929T>G (n.*89+19929T>G) c.397T>G (p.Cys133Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65328584T= | CA2042533220 | MSRB3 | c.244T= (p.Cys82=) c.265T= (p.Cys89=) c.49T= (p.Cys17=) c.119T= c.290T= c.*89+19929T= (n.*89+19929T=) c.397T= (p.Cys133=) | |
| 12 | g.65328585G>A | CA385676100 | MSRB3 | c.245G>A (p.Cys82Tyr) c.266G>A (p.Cys89Tyr) c.50G>A (p.Cys17Tyr) c.120G>A c.291G>A c.*89+19930G>A (n.*89+19930G>A) c.398G>A (p.Cys133Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65328585G>C | CA385676102 | MSRB3 | c.245G>C (p.Cys82Ser) c.266G>C (p.Cys89Ser) c.50G>C (p.Cys17Ser) c.120G>C c.291G>C c.*89+19930G>C (n.*89+19930G>C) c.398G>C (p.Cys133Ser) | |
| 12 | g.65328585G= | CA2042533226 | MSRB3 | c.245G= (p.Cys82=) c.266G= (p.Cys89=) c.50G= (p.Cys17=) c.120G= c.291G= c.*89+19930G= (n.*89+19930G=) c.398G= (p.Cys133=) | |
| 12 | g.65328585G>T | CA385676103 | MSRB3 | c.245G>T (p.Cys82Phe) c.266G>T (p.Cys89Phe) c.50G>T (p.Cys17Phe) c.120G>T c.291G>T c.*89+19930G>T (n.*89+19930G>T) c.398G>T (p.Cys133Phe) | |
| 12 | g.65328586T>A | CA385676109 | MSRB3 | c.246T>A (p.Cys82Ter) c.267T>A (p.Cys89Ter) c.51T>A (p.Cys17Ter) c.121T>A c.292T>A c.*89+19931T>A (n.*89+19931T>A) c.399T>A (p.Cys133Ter) | |
| 12 | g.65328586T>C | CA480666756 | MSRB3 | c.246T>C (p.Cys82=) c.267T>C (p.Cys89=) c.51T>C (p.Cys17=) c.121T>C c.292T>C c.*89+19931T>C (n.*89+19931T>C) c.399T>C (p.Cys133=) | |
| 12 | g.65328586T>G | CA385676107 | MSRB3 | c.246T>G (p.Cys82Trp) c.267T>G (p.Cys89Trp) c.51T>G (p.Cys17Trp) c.121T>G c.292T>G c.*89+19931T>G (n.*89+19931T>G) c.399T>G (p.Cys133Trp) | |
| 12 | g.65328587G>A | CA385676112 | MSRB3 | c.247G>A (p.Gly83Arg) c.268G>A (p.Gly90Arg) c.52G>A (p.Gly18Arg) c.122G>A c.293G>A c.*89+19932G>A (n.*89+19932G>A) c.400G>A (p.Gly134Arg) | gnomAD v4 |
| 12 | g.65328587G>C | CA385676118 | MSRB3 | c.247G>C (p.Gly83Arg) c.268G>C (p.Gly90Arg) c.52G>C (p.Gly18Arg) c.122G>C c.293G>C c.*89+19932G>C (n.*89+19932G>C) c.400G>C (p.Gly134Arg) | |
| 12 | g.65328587G>T | CA385676115 | MSRB3 | c.247G>T (p.Gly83Ter) c.268G>T (p.Gly90Ter) c.52G>T (p.Gly18Ter) c.122G>T c.293G>T c.*89+19932G>T (n.*89+19932G>T) c.400G>T (p.Gly134Ter) | |
| 12 | g.65328588G>A | CA6671431 | MSRB3 | c.248G>A (p.Gly83Glu) c.269G>A (p.Gly90Glu) c.53G>A (p.Gly18Glu) c.123G>A c.294G>A c.*89+19933G>A (n.*89+19933G>A) c.401G>A (p.Gly134Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65328588G>C | CA385676125 | MSRB3 | c.248G>C (p.Gly83Ala) c.269G>C (p.Gly90Ala) c.53G>C (p.Gly18Ala) c.123G>C c.294G>C c.*89+19933G>C (n.*89+19933G>C) c.401G>C (p.Gly134Ala) | |
| 12 | g.65328588G= | CA2042533229 | MSRB3 | c.248G= (p.Gly83=) c.269G= (p.Gly90=) c.53G= (p.Gly18=) c.123G= c.294G= c.*89+19933G= (n.*89+19933G=) c.401G= (p.Gly134=) | |
| 12 | g.65328588G>T | CA385676129 | MSRB3 | c.248G>T (p.Gly83Val) c.269G>T (p.Gly90Val) c.53G>T (p.Gly18Val) c.123G>T c.294G>T c.*89+19933G>T (n.*89+19933G>T) c.401G>T (p.Gly134Val) | COSMIC COSMIC |
| 12 | g.65328589A>C | CA480666779 | MSRB3 | c.249A>C (p.Gly83=) c.270A>C (p.Gly90=) c.54A>C (p.Gly18=) c.124A>C c.295A>C c.*89+19934A>C (n.*89+19934A>C) c.402A>C (p.Gly134=) | |
| 12 | g.65328589A>G | CA480666782 | MSRB3 | c.249A>G (p.Gly83=) c.270A>G (p.Gly90=) c.54A>G (p.Gly18=) c.124A>G c.295A>G c.*89+19934A>G (n.*89+19934A>G) c.402A>G (p.Gly134=) | |
| 12 | g.65328589A>T | CA480666784 | MSRB3 | c.249A>T (p.Gly83=) c.270A>T (p.Gly90=) c.54A>T (p.Gly18=) c.124A>T c.295A>T c.*89+19934A>T (n.*89+19934A>T) c.402A>T (p.Gly134=) | gnomAD v4 |
| 12 | g.65328590A>C | CA385676132 | MSRB3 | c.250A>C (p.Thr84Pro) c.271A>C (p.Thr91Pro) c.55A>C (p.Thr19Pro) c.125A>C c.296A>C c.*89+19935A>C (n.*89+19935A>C) c.403A>C (p.Thr135Pro) | |
| 12 | g.65328590A>G | CA385676135 | MSRB3 | c.250A>G (p.Thr84Ala) c.271A>G (p.Thr91Ala) c.55A>G (p.Thr19Ala) c.125A>G c.296A>G c.*89+19935A>G (n.*89+19935A>G) c.403A>G (p.Thr135Ala) | COSMIC COSMIC |
| 12 | g.65328590A>T | CA385676136 | MSRB3 | c.250A>T (p.Thr84Ser) c.271A>T (p.Thr91Ser) c.55A>T (p.Thr19Ser) c.125A>T c.296A>T c.*89+19935A>T (n.*89+19935A>T) c.403A>T (p.Thr135Ser) | gnomAD v4 |
| 12 | g.65328591C>A | CA385676139 | MSRB3 | c.251C>A (p.Thr84Asn) c.272C>A (p.Thr91Asn) c.56C>A (p.Thr19Asn) c.126C>A c.297C>A c.*89+19936C>A (n.*89+19936C>A) c.404C>A (p.Thr135Asn) | gnomAD v4 |
| 12 | g.65328591C>G | CA385676141 | MSRB3 | c.251C>G (p.Thr84Ser) c.272C>G (p.Thr91Ser) c.56C>G (p.Thr19Ser) c.126C>G c.297C>G c.*89+19936C>G (n.*89+19936C>G) c.404C>G (p.Thr135Ser) | |
| 12 | g.65328591C>T | CA385676145 | MSRB3 | c.251C>T (p.Thr84Ile) c.272C>T (p.Thr91Ile) c.56C>T (p.Thr19Ile) c.126C>T c.297C>T c.*89+19936C>T (n.*89+19936C>T) c.404C>T (p.Thr135Ile) | |
| 12 | g.65328592T>A | CA480666800 | MSRB3 | c.252T>A (p.Thr84=) c.273T>A (p.Thr91=) c.57T>A (p.Thr19=) c.127T>A c.298T>A c.*89+19937T>A (n.*89+19937T>A) c.405T>A (p.Thr135=) | |
| 12 | g.65328592T>C | CA480666802 | MSRB3 | c.252T>C (p.Thr84=) c.273T>C (p.Thr91=) c.57T>C (p.Thr19=) c.127T>C c.298T>C c.*89+19937T>C (n.*89+19937T>C) c.405T>C (p.Thr135=) | |
| 12 | g.65328592T>G | CA480666804 | MSRB3 | c.252T>G (p.Thr84=) c.273T>G (p.Thr91=) c.57T>G (p.Thr19=) c.127T>G c.298T>G c.*89+19937T>G (n.*89+19937T>G) c.405T>G (p.Thr135=) | |
| 12 | g.65328593C>A | CA385676148 | MSRB3 | c.253C>A (p.Pro85Thr) c.274C>A (p.Pro92Thr) c.58C>A (p.Pro20Thr) c.128C>A c.299C>A c.*89+19938C>A (n.*89+19938C>A) c.406C>A (p.Pro136Thr) | |
| 12 | g.65328593C>G | CA385676151 | MSRB3 | c.253C>G (p.Pro85Ala) c.274C>G (p.Pro92Ala) c.58C>G (p.Pro20Ala) c.128C>G c.299C>G c.*89+19938C>G (n.*89+19938C>G) c.406C>G (p.Pro136Ala) | |
| 12 | g.65328593C>T | CA385676153 | MSRB3 | c.253C>T (p.Pro85Ser) c.274C>T (p.Pro92Ser) c.58C>T (p.Pro20Ser) c.128C>T c.299C>T c.*89+19938C>T (n.*89+19938C>T) c.406C>T (p.Pro136Ser) | |
| 12 | g.65328594C>A | CA385676157 | MSRB3 | c.254C>A (p.Pro85Gln) c.275C>A (p.Pro92Gln) c.59C>A (p.Pro20Gln) c.129C>A c.300C>A c.*89+19939C>A (n.*89+19939C>A) c.407C>A (p.Pro136Gln) | |
| 12 | g.65328594C= | CA2042533232 | MSRB3 | c.254C= (p.Pro85=) c.275C= (p.Pro92=) c.59C= (p.Pro20=) c.129C= c.300C= c.*89+19939C= (n.*89+19939C=) c.407C= (p.Pro136=) | |
| 12 | g.65328594C>G | CA385676161 | MSRB3 | c.254C>G (p.Pro85Arg) c.275C>G (p.Pro92Arg) c.59C>G (p.Pro20Arg) c.129C>G c.300C>G c.*89+19939C>G (n.*89+19939C>G) c.407C>G (p.Pro136Arg) | |
| 12 | g.65328594C>T | CA6671432 | MSRB3 | c.254C>T (p.Pro85Leu) c.275C>T (p.Pro92Leu) c.59C>T (p.Pro20Leu) c.129C>T c.300C>T c.*89+19939C>T (n.*89+19939C>T) c.407C>T (p.Pro136Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.65328595A= | CA2042533237 | MSRB3 | c.255A= (p.Pro85=) c.276A= (p.Pro92=) c.60A= (p.Pro20=) c.130A= c.301A= c.*89+19940A= (n.*89+19940A=) c.408A= (p.Pro136=) | |
| 12 | g.65328595A>C | CA480666822 | MSRB3 | c.255A>C (p.Pro85=) c.276A>C (p.Pro92=) c.60A>C (p.Pro20=) c.130A>C c.301A>C c.*89+19940A>C (n.*89+19940A>C) c.408A>C (p.Pro136=) | |
| 12 | g.65328595A>G | CA480666825 | MSRB3 | c.255A>G (p.Pro85=) c.276A>G (p.Pro92=) c.60A>G (p.Pro20=) c.130A>G c.301A>G c.*89+19940A>G (n.*89+19940A>G) c.408A>G (p.Pro136=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65328595A>T | CA480666828 | MSRB3 | c.255A>T (p.Pro85=) c.276A>T (p.Pro92=) c.60A>T (p.Pro20=) c.130A>T c.301A>T c.*89+19940A>T (n.*89+19940A>T) c.408A>T (p.Pro136=) | |
| 12 | g.65328596T>A | CA385676166 | MSRB3 | c.256T>A (p.Leu86Met) c.277T>A (p.Leu93Met) c.61T>A (p.Leu21Met) c.131T>A c.302T>A c.*89+19941T>A (n.*89+19941T>A) c.409T>A (p.Leu137Met) | |
| 12 | g.65328596T>C | CA480666833 | MSRB3 | c.256T>C (p.Leu86=) c.277T>C (p.Leu93=) c.61T>C (p.Leu21=) c.131T>C c.302T>C c.*89+19941T>C (n.*89+19941T>C) c.409T>C (p.Leu137=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65328596T>G | CA385676167 | MSRB3 | c.256T>G (p.Leu86Val) c.277T>G (p.Leu93Val) c.61T>G (p.Leu21Val) c.131T>G c.302T>G c.*89+19941T>G (n.*89+19941T>G) c.409T>G (p.Leu137Val) | |
| 12 | g.65328596T= | CA2042533240 | MSRB3 | c.256T= (p.Leu86=) c.277T= (p.Leu93=) c.61T= (p.Leu21=) c.131T= c.302T= c.*89+19941T= (n.*89+19941T=) c.409T= (p.Leu137=) | |
| 12 | g.65328597T>A | CA385676171 | MSRB3 | c.257T>A (p.Leu86Ter) c.278T>A (p.Leu93Ter) c.62T>A (p.Leu21Ter) c.132T>A c.303T>A c.*89+19942T>A (n.*89+19942T>A) c.410T>A (p.Leu137Ter) | |
| 12 | g.65328597T>C | CA385676174 | MSRB3 | c.257T>C (p.Leu86Ser) c.278T>C (p.Leu93Ser) c.62T>C (p.Leu21Ser) c.132T>C c.303T>C c.*89+19942T>C (n.*89+19942T>C) c.410T>C (p.Leu137Ser) | |
| 12 | g.65328597T>G | CA385676177 | MSRB3 | c.257T>G (p.Leu86Trp) c.278T>G (p.Leu93Trp) c.62T>G (p.Leu21Trp) c.132T>G c.303T>G c.*89+19942T>G (n.*89+19942T>G) c.410T>G (p.Leu137Trp) |