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 |
|---|---|---|---|---|---|
| 3 | g.24122881_24122884del | CA2664767999 | THRB | c.*5_*8del (n.*5_*8del) c.*2020_*2023del (n.*2020_*2023del) | gnomAD v4 |
| 3 | g.24122880C= | CA1351822102 | THRB | c.*4G= (n.*4G=) c.*2019G= (n.*2019G=) | |
| 3 | g.24122880C>T | CA2287075 | THRB | c.*4G>A (n.*4G>A) c.*2019G>A (n.*2019G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24122881A>G | CA2664768000 | THRB | c.*3T>C (n.*3T>C) c.*2018T>C (n.*2018T>C) | gnomAD v4 |
| 3 | g.24122882G>A | CA2287076 | THRB | c.*2C>T (n.*2C>T) c.*2017C>T (n.*2017C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24122882G>C | CA1351822105 | THRB | c.*2C>G (n.*2C>G) c.*2017C>G (n.*2017C>G) | dbSNP |
| 3 | g.24122882G= | CA1351822104 | THRB | c.*2C= (n.*2C=) c.*2017C= (n.*2017C=) | |
| 3 | g.24122884C>A | CA351886431 | THRB | c.1386G>T (p.Ter462Tyr) c.*2015G>T (n.*2015G>T) c.1431G>T (p.Ter477Tyr) c.1293G>T (p.Ter431Tyr) c.1215G>T (p.Ter405Tyr) | |
| 3 | g.24122884C= | CA1351822106 | THRB | c.1386G= (p.Ter462=) c.*2015G= (n.*2015G=) c.1431G= (p.Ter477=) c.1293G= (p.Ter431=) c.1215G= (p.Ter405=) | |
| 3 | g.24122884C>G | CA351886432 | THRB | c.1386G>C (p.Ter462Tyr) c.*2015G>C (n.*2015G>C) c.1431G>C (p.Ter477Tyr) c.1293G>C (p.Ter431Tyr) c.1215G>C (p.Ter405Tyr) | dbSNP |
| 3 | g.24122884C>T | CA432903829 | THRB | c.1386G>A (p.Ter462=) c.*2015G>A (n.*2015G>A) c.1431G>A (p.Ter477=) c.1293G>A (p.Ter431=) c.1215G>A (p.Ter405=) | |
| 3 | g.24122885T>A | CA351886435 | THRB | c.1385A>T (p.Ter462Leu) c.*2014A>T (n.*2014A>T) c.1430A>T (p.Ter477Leu) c.1292A>T (p.Ter431Leu) c.1214A>T (p.Ter405Leu) | |
| 3 | g.24122885T>C | CA351886434 | THRB | c.1385A>G (p.Ter462Trp) c.*2014A>G (n.*2014A>G) c.1430A>G (p.Ter477Trp) c.1292A>G (p.Ter431Trp) c.1214A>G (p.Ter405Trp) | |
| 3 | g.24122885T>G | CA351886433 | THRB | c.1385A>C (p.Ter462Ser) c.*2014A>C (n.*2014A>C) c.1430A>C (p.Ter477Ser) c.1292A>C (p.Ter431Ser) c.1214A>C (p.Ter405Ser) | |
| 3 | g.24122886A>C | CA351886436 | THRB | c.1384T>G (p.Ter462Glu) c.*2013T>G (n.*2013T>G) c.1429T>G (p.Ter477Glu) c.1291T>G (p.Ter431Glu) c.1213T>G (p.Ter405Glu) | |
| 3 | g.24122886A>G | CA351886437 | THRB | c.1384T>C (p.Ter462Gln) c.*2013T>C (n.*2013T>C) c.1429T>C (p.Ter477Gln) c.1291T>C (p.Ter431Gln) c.1213T>C (p.Ter405Gln) | |
| 3 | g.24122886A>T | CA351886438 | THRB | c.1384T>A (p.Ter462Lys) c.*2013T>A (n.*2013T>A) c.1429T>A (p.Ter477Lys) c.1291T>A (p.Ter431Lys) c.1213T>A (p.Ter405Lys) | |
| 3 | g.24122887A>C | CA351886439 | THRB | c.1383T>G (p.Asp461Glu) c.*2012T>G (n.*2012T>G) c.1428T>G (p.Asp476Glu) c.1290T>G (p.Asp430Glu) c.1212T>G (p.Asp404Glu) | |
| 3 | g.24122887A>G | CA432903848 | THRB | c.1383T>C (p.Asp461=) c.*2012T>C (n.*2012T>C) c.1428T>C (p.Asp476=) c.1290T>C (p.Asp430=) c.1212T>C (p.Asp404=) | |
| 3 | g.24122887A>T | CA351886440 | THRB | c.1383T>A (p.Asp461Glu) c.*2012T>A (n.*2012T>A) c.1428T>A (p.Asp476Glu) c.1290T>A (p.Asp430Glu) c.1212T>A (p.Asp404Glu) | |
| 3 | g.24122888T>A | CA351886441 | THRB | c.1382A>T (p.Asp461Val) c.*2011A>T (n.*2011A>T) c.1427A>T (p.Asp476Val) c.1289A>T (p.Asp430Val) c.1211A>T (p.Asp404Val) | |
| 3 | g.24122888T>C | CA351886442 | THRB | c.1382A>G (p.Asp461Gly) c.*2011A>G (n.*2011A>G) c.1427A>G (p.Asp476Gly) c.1289A>G (p.Asp430Gly) c.1211A>G (p.Asp404Gly) | |
| 3 | g.24122888T>G | CA351886443 | THRB | c.1382A>C (p.Asp461Ala) c.*2011A>C (n.*2011A>C) c.1427A>C (p.Asp476Ala) c.1289A>C (p.Asp430Ala) c.1211A>C (p.Asp404Ala) | |
| 3 | g.24122889C>A | CA351886444 | THRB | c.1381G>T (p.Asp461Tyr) c.*2010G>T (n.*2010G>T) c.1426G>T (p.Asp476Tyr) c.1288G>T (p.Asp430Tyr) c.1210G>T (p.Asp404Tyr) | |
| 3 | g.24122889C>G | CA351886445 | THRB | c.1381G>C (p.Asp461His) c.*2010G>C (n.*2010G>C) c.1426G>C (p.Asp476His) c.1288G>C (p.Asp430His) c.1210G>C (p.Asp404His) | |
| 3 | g.24122889C>T | CA351886446 | THRB | c.1381G>A (p.Asp461Asn) c.*2010G>A (n.*2010G>A) c.1426G>A (p.Asp476Asn) c.1288G>A (p.Asp430Asn) c.1210G>A (p.Asp404Asn) | |
| 3 | g.24122890C>A | CA351886447 | THRB | c.1380G>T (p.Glu460Asp) c.*2009G>T (n.*2009G>T) c.1425G>T (p.Glu475Asp) c.1287G>T (p.Glu429Asp) c.1209G>T (p.Glu403Asp) | |
| 3 | g.24122890C= | CA1351822107 | THRB | c.1380G= (p.Glu460=) c.*2009G= (n.*2009G=) c.1425G= (p.Glu475=) c.1287G= (p.Glu429=) c.1209G= (p.Glu403=) | |
| 3 | g.24122890C>G | CA351886448 | THRB | c.1380G>C (p.Glu460Asp) c.*2009G>C (n.*2009G>C) c.1425G>C (p.Glu475Asp) c.1287G>C (p.Glu429Asp) c.1209G>C (p.Glu403Asp) | |
| 3 | g.24122890C>T | CA432903871 | THRB | c.1380G>A (p.Glu460=) c.*2009G>A (n.*2009G>A) c.1425G>A (p.Glu475=) c.1287G>A (p.Glu429=) c.1209G>A (p.Glu403=) | dbSNP |
| 3 | g.24122891T>A | CA351886451 | THRB | c.1379A>T (p.Glu460Val) c.*2008A>T (n.*2008A>T) c.1424A>T (p.Glu475Val) c.1286A>T (p.Glu429Val) c.1208A>T (p.Glu403Val) | |
| 3 | g.24122891T>C | CA351886450 | THRB | c.1379A>G (p.Glu460Gly) c.*2008A>G (n.*2008A>G) c.1424A>G (p.Glu475Gly) c.1286A>G (p.Glu429Gly) c.1208A>G (p.Glu403Gly) | |
| 3 | g.24122891T>G | CA351886449 | THRB | c.1379A>C (p.Glu460Ala) c.*2008A>C (n.*2008A>C) c.1424A>C (p.Glu475Ala) c.1286A>C (p.Glu429Ala) c.1208A>C (p.Glu403Ala) | |
| 3 | g.24122892C>A | CA351886452 | THRB | c.1378G>T (p.Glu460Ter) c.*2007G>T (n.*2007G>T) c.1423G>T (p.Glu475Ter) c.1285G>T (p.Glu429Ter) c.1207G>T (p.Glu403Ter) | |
| 3 | g.24122892C= | CA1351822108 | THRB | c.1378G= (p.Glu460=) c.*2007G= (n.*2007G=) c.1423G= (p.Glu475=) c.1285G= (p.Glu429=) c.1207G= (p.Glu403=) | |
| 3 | g.24122892C>G | CA351886453 | THRB | c.1378G>C (p.Glu460Gln) c.*2007G>C (n.*2007G>C) c.1423G>C (p.Glu475Gln) c.1285G>C (p.Glu429Gln) c.1207G>C (p.Glu403Gln) | |
| 3 | g.24122892C>T | CA351886454 | THRB | c.1378G>A (p.Glu460Lys) c.*2007G>A (n.*2007G>A) c.1423G>A (p.Glu475Lys) c.1285G>A (p.Glu429Lys) c.1207G>A (p.Glu403Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24122893G>A | CA432903888 | THRB | c.1377C>T (p.Phe459=) c.*2006C>T (n.*2006C>T) c.1422C>T (p.Phe474=) c.1284C>T (p.Phe428=) c.1206C>T (p.Phe402=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.24122893G>C | CA351886455 | THRB | c.1377C>G (p.Phe459Leu) c.*2006C>G (n.*2006C>G) c.1422C>G (p.Phe474Leu) c.1284C>G (p.Phe428Leu) c.1206C>G (p.Phe402Leu) | |
| 3 | g.24122893G= | CA1351822109 | THRB | c.1377C= (p.Phe459=) c.*2006C= (n.*2006C=) c.1422C= (p.Phe474=) c.1284C= (p.Phe428=) c.1206C= (p.Phe402=) | |
| 3 | g.24122893G>T | CA351886456 | THRB | c.1377C>A (p.Phe459Leu) c.*2006C>A (n.*2006C>A) c.1422C>A (p.Phe474Leu) c.1284C>A (p.Phe428Leu) c.1206C>A (p.Phe402Leu) | ClinVar dbSNP |
| 3 | g.24122894A= | CA1351822110 | THRB | c.1376T= (p.Phe459=) c.*2005T= (n.*2005T=) c.1421T= (p.Phe474=) c.1283T= (p.Phe428=) c.1205T= (p.Phe402=) | |
| 3 | g.24122894A>C | CA122499 | THRB | c.1376T>G (p.Phe459Cys) c.*2005T>G (n.*2005T>G) c.1421T>G (p.Phe474Cys) c.1283T>G (p.Phe428Cys) c.1205T>G (p.Phe402Cys) | ClinVar dbSNP |
| 3 | g.24122894A>G | CA351886457 | THRB | c.1376T>C (p.Phe459Ser) c.*2005T>C (n.*2005T>C) c.1421T>C (p.Phe474Ser) c.1283T>C (p.Phe428Ser) c.1205T>C (p.Phe402Ser) | |
| 3 | g.24122894A>T | CA351886458 | THRB | c.1376T>A (p.Phe459Tyr) c.*2005T>A (n.*2005T>A) c.1421T>A (p.Phe474Tyr) c.1283T>A (p.Phe428Tyr) c.1205T>A (p.Phe402Tyr) | |
| 3 | g.24122895A>C | CA351886459 | THRB | c.1375T>G (p.Phe459Val) c.*2004T>G (n.*2004T>G) c.1420T>G (p.Phe474Val) c.1282T>G (p.Phe428Val) c.1204T>G (p.Phe402Val) | |
| 3 | g.24122895A>G | CA351886460 | THRB | c.1375T>C (p.Phe459Leu) c.*2004T>C (n.*2004T>C) c.1420T>C (p.Phe474Leu) c.1282T>C (p.Phe428Leu) c.1204T>C (p.Phe402Leu) | |
| 3 | g.24122895A>T | CA351886461 | THRB | c.1375T>A (p.Phe459Ile) c.*2004T>A (n.*2004T>A) c.1420T>A (p.Phe474Ile) c.1282T>A (p.Phe428Ile) c.1204T>A (p.Phe402Ile) | |
| 3 | g.24122897_24122898dup | CA2577530523 | THRB | c.1374_1375dup (p.Phe459CysfsTer?) c.*2003_*2004dup (n.*2003_*2004dup) c.1419_1420dup (p.Phe474CysfsTer?) c.1281_1282dup (p.Phe428CysfsTer?) c.1203_1204dup (p.Phe402CysfsTer?) | |
| 3 | g.24122896C>A | CA432903917 | THRB | c.1374G>T (p.Val458=) c.*2003G>T (n.*2003G>T) c.1419G>T (p.Val473=) c.1281G>T (p.Val427=) c.1203G>T (p.Val401=) |