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 |
|---|---|---|---|---|---|
| 22 | g.19766600_19766682del | CA2655314538 | TBX1 | c.1248_1330del (p.Ser417LeufsTer?) c.1009+598_1009+680del (n.1009+598_1009+680del) c.1221_1303del (p.Ser408LeufsTer?) c.1371_1453del (p.Ser458LeufsTer?) c.576_658del (p.Ser193LeufsTer?) c.1159+598_1159+680del (n.1159+598_1159+680del) | gnomAD v4 |
| 22 | g.19766641_19766678del | CA2655306509 | TBX1 | c.1289_1326del (p.Ala430GlyfsTer?) c.1009+639_1009+676del (n.1009+639_1009+676del) c.1262_1299del (p.Ala421GlyfsTer?) c.1412_1449del (p.Ala471GlyfsTer?) c.617_654del (p.Ala206GlyfsTer?) c.1159+639_1159+676del (n.1159+639_1159+676del) | gnomAD v4 |
| 22 | g.19766639del | CA2818396708 | TBX1 | c.1287del (p.Ala430ProfsTer?) c.1009+637del (n.1009+637del) c.1260del (p.Ala421ProfsTer?) c.1410del (p.Ala471ProfsTer?) c.615del (p.Ala206ProfsTer?) c.1159+637del (n.1159+637del) | |
| 22 | g.19766639C>A | CA10102699 | TBX1 | c.1287C>A (p.Ala429=) c.1009+637C>A (n.1009+637C>A) c.1260C>A (p.Ala420=) c.1410C>A (p.Ala470=) c.615C>A (p.Ala205=) c.1159+637C>A (n.1159+637C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19766639C= | CA2396032436 | TBX1 | c.1287C= (p.Ala429=) c.1009+637C= (n.1009+637C=) c.1260C= (p.Ala420=) c.1410C= (p.Ala470=) c.615C= (p.Ala205=) c.1159+637C= (n.1159+637C=) | |
| 22 | g.19766639C>G | CA513687292 | TBX1 | c.1287C>G (p.Ala429=) c.1009+637C>G (n.1009+637C>G) c.1260C>G (p.Ala420=) c.1410C>G (p.Ala470=) c.615C>G (p.Ala205=) c.1159+637C>G (n.1159+637C>G) | |
| 22 | g.19766639C>T | CA322058513 | TBX1 | c.1287C>T (p.Ala429=) c.1009+637C>T (n.1009+637C>T) c.1260C>T (p.Ala420=) c.1410C>T (p.Ala470=) c.615C>T (p.Ala205=) c.1159+637C>T (n.1159+637C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766640G>A | CA10102700 | TBX1 | c.1288G>A (p.Ala430Thr) c.1009+638G>A (n.1009+638G>A) c.1261G>A (p.Ala421Thr) c.1411G>A (p.Ala471Thr) c.616G>A (p.Ala206Thr) c.1159+638G>A (n.1159+638G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19766640G>C | CA410684842 | TBX1 | c.1288G>C (p.Ala430Pro) c.1009+638G>C (n.1009+638G>C) c.1261G>C (p.Ala421Pro) c.1411G>C (p.Ala471Pro) c.616G>C (p.Ala206Pro) c.1159+638G>C (n.1159+638G>C) | |
| 22 | g.19766640G= | CA2396032437 | TBX1 | c.1288G= (p.Ala430=) c.1009+638G= (n.1009+638G=) c.1261G= (p.Ala421=) c.1411G= (p.Ala471=) c.616G= (p.Ala206=) c.1159+638G= (n.1159+638G=) | |
| 22 | g.19766640G>T | CA410684844 | TBX1 | c.1288G>T (p.Ala430Ser) c.1009+638G>T (n.1009+638G>T) c.1261G>T (p.Ala421Ser) c.1411G>T (p.Ala471Ser) c.616G>T (p.Ala206Ser) c.1159+638G>T (n.1159+638G>T) | gnomAD v4 |
| 22 | g.19766641C>A | CA410684846 | TBX1 | c.1289C>A (p.Ala430Asp) c.1009+639C>A (n.1009+639C>A) c.1262C>A (p.Ala421Asp) c.1412C>A (p.Ala471Asp) c.617C>A (p.Ala206Asp) c.1159+639C>A (n.1159+639C>A) | gnomAD v4 |
| 22 | g.19766641C>G | CA410684847 | TBX1 | c.1289C>G (p.Ala430Gly) c.1009+639C>G (n.1009+639C>G) c.1262C>G (p.Ala421Gly) c.1412C>G (p.Ala471Gly) c.617C>G (p.Ala206Gly) c.1159+639C>G (n.1159+639C>G) | gnomAD v4 |
| 22 | g.19766641C>T | CA410684849 | TBX1 | c.1289C>T (p.Ala430Val) c.1009+639C>T (n.1009+639C>T) c.1262C>T (p.Ala421Val) c.1412C>T (p.Ala471Val) c.617C>T (p.Ala206Val) c.1159+639C>T (n.1159+639C>T) | ClinVar gnomAD v4 |
| 22 | g.19766642C>A | CA513687294 | TBX1 | c.1290C>A (p.Ala430=) c.1009+640C>A (n.1009+640C>A) c.1263C>A (p.Ala421=) c.1413C>A (p.Ala471=) c.618C>A (p.Ala206=) c.1159+640C>A (n.1159+640C>A) | gnomAD v4 |
| 22 | g.19766642C>G | CA513687295 | TBX1 | c.1290C>G (p.Ala430=) c.1009+640C>G (n.1009+640C>G) c.1263C>G (p.Ala421=) c.1413C>G (p.Ala471=) c.618C>G (p.Ala206=) c.1159+640C>G (n.1159+640C>G) | |
| 22 | g.19766642C>T | CA513687296 | TBX1 | c.1290C>T (p.Ala430=) c.1009+640C>T (n.1009+640C>T) c.1263C>T (p.Ala421=) c.1413C>T (p.Ala471=) c.618C>T (p.Ala206=) c.1159+640C>T (n.1159+640C>T) | gnomAD v4 |
| 22 | g.19766643G>A | CA410684851 | TBX1 | c.1291G>A (p.Ala431Thr) c.1009+641G>A (n.1009+641G>A) c.1264G>A (p.Ala422Thr) c.1414G>A (p.Ala472Thr) c.619G>A (p.Ala207Thr) c.1159+641G>A (n.1159+641G>A) | gnomAD v4 |
| 22 | g.19766643G>C | CA410684858 | TBX1 | c.1291G>C (p.Ala431Pro) c.1009+641G>C (n.1009+641G>C) c.1264G>C (p.Ala422Pro) c.1414G>C (p.Ala472Pro) c.619G>C (p.Ala207Pro) c.1159+641G>C (n.1159+641G>C) | gnomAD v4 |
| 22 | g.19766643G>T | CA410684853 | TBX1 | c.1291G>T (p.Ala431Ser) c.1009+641G>T (n.1009+641G>T) c.1264G>T (p.Ala422Ser) c.1414G>T (p.Ala472Ser) c.619G>T (p.Ala207Ser) c.1159+641G>T (n.1159+641G>T) | gnomAD v4 |
| 22 | g.19766644C>A | CA410684860 | TBX1 | c.1292C>A (p.Ala431Asp) c.1009+642C>A (n.1009+642C>A) c.1265C>A (p.Ala422Asp) c.1415C>A (p.Ala472Asp) c.620C>A (p.Ala207Asp) c.1159+642C>A (n.1159+642C>A) | gnomAD v4 |
| 22 | g.19766644C= | CA2396032438 | TBX1 | c.1292C= (p.Ala431=) c.1009+642C= (n.1009+642C=) c.1265C= (p.Ala422=) c.1415C= (p.Ala472=) c.620C= (p.Ala207=) c.1159+642C= (n.1159+642C=) | |
| 22 | g.19766644C>G | CA410684862 | TBX1 | c.1292C>G (p.Ala431Gly) c.1009+642C>G (n.1009+642C>G) c.1265C>G (p.Ala422Gly) c.1415C>G (p.Ala472Gly) c.620C>G (p.Ala207Gly) c.1159+642C>G (n.1159+642C>G) | gnomAD v4 |
| 22 | g.19766644C>T | CA10102701 | TBX1 | c.1292C>T (p.Ala431Val) c.1009+642C>T (n.1009+642C>T) c.1265C>T (p.Ala422Val) c.1415C>T (p.Ala472Val) c.620C>T (p.Ala207Val) c.1159+642C>T (n.1159+642C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19766645C>A | CA513687298 | TBX1 | c.1293C>A (p.Ala431=) c.1009+643C>A (n.1009+643C>A) c.1266C>A (p.Ala422=) c.1416C>A (p.Ala472=) c.621C>A (p.Ala207=) c.1159+643C>A (n.1159+643C>A) | |
| 22 | g.19766645C>G | CA513687299 | TBX1 | c.1293C>G (p.Ala431=) c.1009+643C>G (n.1009+643C>G) c.1266C>G (p.Ala422=) c.1416C>G (p.Ala472=) c.621C>G (p.Ala207=) c.1159+643C>G (n.1159+643C>G) | |
| 22 | g.19766645C>T | CA513687300 | TBX1 | c.1293C>T (p.Ala431=) c.1009+643C>T (n.1009+643C>T) c.1266C>T (p.Ala422=) c.1416C>T (p.Ala472=) c.621C>T (p.Ala207=) c.1159+643C>T (n.1159+643C>T) | gnomAD v4 |
| 22 | g.19766646T>A | CA410684866 | TBX1 | c.1294T>A (p.Tyr432Asn) c.1009+644T>A (n.1009+644T>A) c.1267T>A (p.Tyr423Asn) c.1417T>A (p.Tyr473Asn) c.622T>A (p.Tyr208Asn) c.1159+644T>A (n.1159+644T>A) | |
| 22 | g.19766646T>C | CA410684868 | TBX1 | c.1294T>C (p.Tyr432His) c.1009+644T>C (n.1009+644T>C) c.1267T>C (p.Tyr423His) c.1417T>C (p.Tyr473His) c.622T>C (p.Tyr208His) c.1159+644T>C (n.1159+644T>C) | gnomAD v4 |
| 22 | g.19766646T>G | CA410684870 | TBX1 | c.1294T>G (p.Tyr432Asp) c.1009+644T>G (n.1009+644T>G) c.1267T>G (p.Tyr423Asp) c.1417T>G (p.Tyr473Asp) c.622T>G (p.Tyr208Asp) c.1159+644T>G (n.1159+644T>G) | |
| 22 | g.19766647A= | CA2396032439 | TBX1 | c.1295A= (p.Tyr432=) c.1009+645A= (n.1009+645A=) c.1268A= (p.Tyr423=) c.1418A= (p.Tyr473=) c.623A= (p.Tyr208=) c.1159+645A= (n.1159+645A=) | |
| 22 | g.19766647A>C | CA410684872 | TBX1 | c.1295A>C (p.Tyr432Ser) c.1009+645A>C (n.1009+645A>C) c.1268A>C (p.Tyr423Ser) c.1418A>C (p.Tyr473Ser) c.623A>C (p.Tyr208Ser) c.1159+645A>C (n.1159+645A>C) | gnomAD v4 |
| 22 | g.19766647A>G | CA410684874 | TBX1 | c.1295A>G (p.Tyr432Cys) c.1009+645A>G (n.1009+645A>G) c.1268A>G (p.Tyr423Cys) c.1418A>G (p.Tyr473Cys) c.623A>G (p.Tyr208Cys) c.1159+645A>G (n.1159+645A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766647A>T | CA410684876 | TBX1 | c.1295A>T (p.Tyr432Phe) c.1009+645A>T (n.1009+645A>T) c.1268A>T (p.Tyr423Phe) c.1418A>T (p.Tyr473Phe) c.623A>T (p.Tyr208Phe) c.1159+645A>T (n.1159+645A>T) | |
| 22 | g.19766648C>A | CA410684878 | TBX1 | c.1296C>A (p.Tyr432Ter) c.1009+646C>A (n.1009+646C>A) c.1269C>A (p.Tyr423Ter) c.1419C>A (p.Tyr473Ter) c.624C>A (p.Tyr208Ter) c.1159+646C>A (n.1159+646C>A) | gnomAD v4 |
| 22 | g.19766648C= | CA2396032440 | TBX1 | c.1296C= (p.Tyr432=) c.1009+646C= (n.1009+646C=) c.1269C= (p.Tyr423=) c.1419C= (p.Tyr473=) c.624C= (p.Tyr208=) c.1159+646C= (n.1159+646C=) | |
| 22 | g.19766648C>G | CA410684880 | TBX1 | c.1296C>G (p.Tyr432Ter) c.1009+646C>G (n.1009+646C>G) c.1269C>G (p.Tyr423Ter) c.1419C>G (p.Tyr473Ter) c.624C>G (p.Tyr208Ter) c.1159+646C>G (n.1159+646C>G) | ClinVar dbSNP |
| 22 | g.19766648C>T | CA513687304 | TBX1 | c.1296C>T (p.Tyr432=) c.1009+646C>T (n.1009+646C>T) c.1269C>T (p.Tyr423=) c.1419C>T (p.Tyr473=) c.624C>T (p.Tyr208=) c.1159+646C>T (n.1159+646C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19766649G>A | CA10102702 | TBX1 | c.1297G>A (p.Asp433Asn) c.1009+647G>A (n.1009+647G>A) c.1270G>A (p.Asp424Asn) c.1420G>A (p.Asp474Asn) c.625G>A (p.Asp209Asn) c.1159+647G>A (n.1159+647G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766649G>C | CA410684881 | TBX1 | c.1297G>C (p.Asp433His) c.1009+647G>C (n.1009+647G>C) c.1270G>C (p.Asp424His) c.1420G>C (p.Asp474His) c.625G>C (p.Asp209His) c.1159+647G>C (n.1159+647G>C) | |
| 22 | g.19766649G= | CA2396032441 | TBX1 | c.1297G= (p.Asp433=) c.1009+647G= (n.1009+647G=) c.1270G= (p.Asp424=) c.1420G= (p.Asp474=) c.625G= (p.Asp209=) c.1159+647G= (n.1159+647G=) | |
| 22 | g.19766649G>T | CA410684883 | TBX1 | c.1297G>T (p.Asp433Tyr) c.1009+647G>T (n.1009+647G>T) c.1270G>T (p.Asp424Tyr) c.1420G>T (p.Asp474Tyr) c.625G>T (p.Asp209Tyr) c.1159+647G>T (n.1159+647G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19766650A>C | CA410684885 | TBX1 | c.1298A>C (p.Asp433Ala) c.1009+648A>C (n.1009+648A>C) c.1271A>C (p.Asp424Ala) c.1421A>C (p.Asp474Ala) c.626A>C (p.Asp209Ala) c.1159+648A>C (n.1159+648A>C) | |
| 22 | g.19766650A>G | CA410684887 | TBX1 | c.1298A>G (p.Asp433Gly) c.1009+648A>G (n.1009+648A>G) c.1271A>G (p.Asp424Gly) c.1421A>G (p.Asp474Gly) c.626A>G (p.Asp209Gly) c.1159+648A>G (n.1159+648A>G) | gnomAD v4 |
| 22 | g.19766650A>T | CA410684889 | TBX1 | c.1298A>T (p.Asp433Val) c.1009+648A>T (n.1009+648A>T) c.1271A>T (p.Asp424Val) c.1421A>T (p.Asp474Val) c.626A>T (p.Asp209Val) c.1159+648A>T (n.1159+648A>T) | gnomAD v4 |
| 22 | g.19766651C>A | CA10102703 | TBX1 | c.1299C>A (p.Asp433Glu) c.1009+649C>A (n.1009+649C>A) c.1272C>A (p.Asp424Glu) c.1422C>A (p.Asp474Glu) c.627C>A (p.Asp209Glu) c.1159+649C>A (n.1159+649C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19766651C= | CA2396032442 | TBX1 | c.1299C= (p.Asp433=) c.1009+649C= (n.1009+649C=) c.1272C= (p.Asp424=) c.1422C= (p.Asp474=) c.627C= (p.Asp209=) c.1159+649C= (n.1159+649C=) | |
| 22 | g.19766651C>G | CA410684891 | TBX1 | c.1299C>G (p.Asp433Glu) c.1009+649C>G (n.1009+649C>G) c.1272C>G (p.Asp424Glu) c.1422C>G (p.Asp474Glu) c.627C>G (p.Asp209Glu) c.1159+649C>G (n.1159+649C>G) | |
| 22 | g.19766651C>T | CA513687306 | TBX1 | c.1299C>T (p.Asp433=) c.1009+649C>T (n.1009+649C>T) c.1272C>T (p.Asp424=) c.1422C>T (p.Asp474=) c.627C>T (p.Asp209=) c.1159+649C>T (n.1159+649C>T) | gnomAD v4 |
| 22 | g.19766652del | CA2655306512 | TBX1 | c.1300del (p.His434ThrfsTer?) c.1009+650del (n.1009+650del) c.1273del (p.His425ThrfsTer?) c.1423del (p.His475ThrfsTer?) c.628del (p.His210ThrfsTer?) c.1159+650del (n.1159+650del) | gnomAD v4 |