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 |
|---|---|---|---|---|---|
| 1 | g.209617533C>A | CA344584215 | LAMB3 | c.3105G>T (p.Gln1035His) c.312G>T (p.Gln104His) c.2913G>T (p.Gln971His) | |
| 1 | g.209617533C>G | CA344584217 | LAMB3 | c.3105G>C (p.Gln1035His) c.312G>C (p.Gln104His) c.2913G>C (p.Gln971His) | |
| 1 | g.209617533C>T | CA423029566 | LAMB3 | c.3105G>A (p.Gln1035=) c.312G>A (p.Gln104=) c.2913G>A (p.Gln971=) | |
| 1 | g.209617534T>A | CA344584219 | LAMB3 | c.3104A>T (p.Gln1035Leu) c.311A>T (p.Gln104Leu) c.2912A>T (p.Gln971Leu) | |
| 1 | g.209617534T>C | CA344584221 | LAMB3 | c.3104A>G (p.Gln1035Arg) c.311A>G (p.Gln104Arg) c.2912A>G (p.Gln971Arg) | |
| 1 | g.209617534T>G | CA344584222 | LAMB3 | c.3104A>C (p.Gln1035Pro) c.311A>C (p.Gln104Pro) c.2912A>C (p.Gln971Pro) | gnomAD v4 |
| 1 | g.209617535G>A | CA344584228 | LAMB3 | c.3103C>T (p.Gln1035Ter) c.310C>T (p.Gln104Ter) c.2911C>T (p.Gln971Ter) | gnomAD v4 |
| 1 | g.209617535G>C | CA344584225 | LAMB3 | c.3103C>G (p.Gln1035Glu) c.310C>G (p.Gln104Glu) c.2911C>G (p.Gln971Glu) | |
| 1 | g.209617535G>T | CA344584227 | LAMB3 | c.3103C>A (p.Gln1035Lys) c.310C>A (p.Gln104Lys) c.2911C>A (p.Gln971Lys) | |
| 1 | g.209617536C>A | CA344584229 | LAMB3 | c.3102G>T (p.Lys1034Asn) c.309G>T (p.Lys103Asn) c.2910G>T (p.Lys970Asn) | |
| 1 | g.209617536C>G | CA344584230 | LAMB3 | c.3102G>C (p.Lys1034Asn) c.309G>C (p.Lys103Asn) c.2910G>C (p.Lys970Asn) | |
| 1 | g.209617536C>T | CA423029567 | LAMB3 | c.3102G>A (p.Lys1034=) c.309G>A (p.Lys103=) c.2910G>A (p.Lys970=) | ClinVar gnomAD v4 |
| 1 | g.209617537T>A | CA344584232 | LAMB3 | c.3101A>T (p.Lys1034Met) c.308A>T (p.Lys103Met) c.2909A>T (p.Lys970Met) | |
| 1 | g.209617537T>C | CA344584234 | LAMB3 | c.3101A>G (p.Lys1034Arg) c.308A>G (p.Lys103Arg) c.2909A>G (p.Lys970Arg) | |
| 1 | g.209617537T>G | CA344584236 | LAMB3 | c.3101A>C (p.Lys1034Thr) c.308A>C (p.Lys103Thr) c.2909A>C (p.Lys970Thr) | |
| 1 | g.209617538T>A | CA344584242 | LAMB3 | c.3100A>T (p.Lys1034Ter) c.307A>T (p.Lys103Ter) c.2908A>T (p.Lys970Ter) | |
| 1 | g.209617538T>C | CA344584240 | LAMB3 | c.3100A>G (p.Lys1034Glu) c.307A>G (p.Lys103Glu) c.2908A>G (p.Lys970Glu) | |
| 1 | g.209617538T>G | CA344584238 | LAMB3 | c.3100A>C (p.Lys1034Gln) c.307A>C (p.Lys103Gln) c.2908A>C (p.Lys970Gln) | |
| 1 | g.209617539G>A | CA423029568 | LAMB3 | c.3099C>T (p.Thr1033=) c.306C>T (p.Thr102=) c.2907C>T (p.Thr969=) | |
| 1 | g.209617539G>C | CA423029569 | LAMB3 | c.3099C>G (p.Thr1033=) c.306C>G (p.Thr102=) c.2907C>G (p.Thr969=) | ClinVar dbSNP |
| 1 | g.209617539G>T | CA423029571 | LAMB3 | c.3099C>A (p.Thr1033=) c.306C>A (p.Thr102=) c.2907C>A (p.Thr969=) | |
| 1 | g.209617540G>A | CA344584251 | LAMB3 | c.3098C>T (p.Thr1033Ile) c.305C>T (p.Thr102Ile) c.2906C>T (p.Thr969Ile) | dbSNP gnomAD v4 |
| 1 | g.209617540G>C | CA344584253 | LAMB3 | c.3098C>G (p.Thr1033Ser) c.305C>G (p.Thr102Ser) c.2906C>G (p.Thr969Ser) | |
| 1 | g.209617540G>T | CA344584255 | LAMB3 | c.3098C>A (p.Thr1033Asn) c.305C>A (p.Thr102Asn) c.2906C>A (p.Thr969Asn) | gnomAD v4 |
| 1 | g.209617541T>A | CA344584256 | LAMB3 | c.3097A>T (p.Thr1033Ser) c.304A>T (p.Thr102Ser) c.2905A>T (p.Thr969Ser) | |
| 1 | g.209617541T>C | CA344584258 | LAMB3 | c.3097A>G (p.Thr1033Ala) c.304A>G (p.Thr102Ala) c.2905A>G (p.Thr969Ala) | |
| 1 | g.209617541T>G | CA344584260 | LAMB3 | c.3097A>C (p.Thr1033Pro) c.304A>C (p.Thr102Pro) c.2905A>C (p.Thr969Pro) | |
| 1 | g.209617542C>A | CA344584263 | LAMB3 | c.3096G>T (p.Met1032Ile) c.303G>T (p.Met101Ile) c.2904G>T (p.Met968Ile) | |
| 1 | g.209617542C= | CA2484295892 | LAMB3 | c.3096G= (p.Met1032=) c.303G= (p.Met101=) c.2904G= (p.Met968=) | |
| 1 | g.209617542C>G | CA344584266 | LAMB3 | c.3096G>C (p.Met1032Ile) c.303G>C (p.Met101Ile) c.2904G>C (p.Met968Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209617542C>T | CA344584265 | LAMB3 | c.3096G>A (p.Met1032Ile) c.303G>A (p.Met101Ile) c.2904G>A (p.Met968Ile) | COSMIC |
| 1 | g.209617543A>C | CA344584268 | LAMB3 | c.3095T>G (p.Met1032Arg) c.302T>G (p.Met101Arg) c.2903T>G (p.Met968Arg) | |
| 1 | g.209617543A>G | CA344584270 | LAMB3 | c.3095T>C (p.Met1032Thr) c.302T>C (p.Met101Thr) c.2903T>C (p.Met968Thr) | |
| 1 | g.209617543A>T | CA344584271 | LAMB3 | c.3095T>A (p.Met1032Lys) c.302T>A (p.Met101Lys) c.2903T>A (p.Met968Lys) | |
| 1 | g.209617544T>A | CA344584273 | LAMB3 | c.3094A>T (p.Met1032Leu) c.301A>T (p.Met101Leu) c.2902A>T (p.Met968Leu) | COSMIC |
| 1 | g.209617544T>C | CA344584274 | LAMB3 | c.3094A>G (p.Met1032Val) c.301A>G (p.Met101Val) c.2902A>G (p.Met968Val) | |
| 1 | g.209617544T>G | CA344584277 | LAMB3 | c.3094A>C (p.Met1032Leu) c.301A>C (p.Met101Leu) c.2902A>C (p.Met968Leu) | |
| 1 | g.209617545G>A | CA423029573 | LAMB3 | c.3093C>T (p.Ser1031=) c.300C>T (p.Ser100=) c.2901C>T (p.Ser967=) | |
| 1 | g.209617545G>C | CA344584279 | LAMB3 | c.3093C>G (p.Ser1031Arg) c.300C>G (p.Ser100Arg) c.2901C>G (p.Ser967Arg) | |
| 1 | g.209617545G>T | CA344584280 | LAMB3 | c.3093C>A (p.Ser1031Arg) c.300C>A (p.Ser100Arg) c.2901C>A (p.Ser967Arg) | |
| 1 | g.209617546C>A | CA344584284 | LAMB3 | c.3092G>T (p.Ser1031Ile) c.299G>T (p.Ser100Ile) c.2900G>T (p.Ser967Ile) | |
| 1 | g.209617546C= | CA2484295893 | LAMB3 | c.3092G= (p.Ser1031=) c.299G= (p.Ser100=) c.2900G= (p.Ser967=) | |
| 1 | g.209617546C>G | CA344584285 | LAMB3 | c.3092G>C (p.Ser1031Thr) c.299G>C (p.Ser100Thr) c.2900G>C (p.Ser967Thr) | |
| 1 | g.209617546C>T | CA344584287 | LAMB3 | c.3092G>A (p.Ser1031Asn) c.299G>A (p.Ser100Asn) c.2900G>A (p.Ser967Asn) | dbSNP |
| 1 | g.209617547T>A | CA344584291 | LAMB3 | c.3091A>T (p.Ser1031Cys) c.298A>T (p.Ser100Cys) c.2899A>T (p.Ser967Cys) | |
| 1 | g.209617547T>C | CA344584298 | LAMB3 | c.3091A>G (p.Ser1031Gly) c.298A>G (p.Ser100Gly) c.2899A>G (p.Ser967Gly) | |
| 1 | g.209617547T>G | CA344584296 | LAMB3 | c.3091A>C (p.Ser1031Arg) c.298A>C (p.Ser100Arg) c.2899A>C (p.Ser967Arg) | |
| 1 | g.209617548T>A | CA423029574 | LAMB3 | c.3090A>T (p.Thr1030=) c.297A>T (p.Thr99=) c.2898A>T (p.Thr966=) | |
| 1 | g.209617548T>C | CA423029575 | LAMB3 | c.3090A>G (p.Thr1030=) c.297A>G (p.Thr99=) c.2898A>G (p.Thr966=) | |
| 1 | g.209617548T>G | CA423029576 | LAMB3 | c.3090A>C (p.Thr1030=) c.297A>C (p.Thr99=) c.2898A>C (p.Thr966=) |