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 |
|---|---|---|---|---|---|
| 19 | g.50286547G>A | CA406958962 | MYH14 | c.4506G>A (p.Glu1502=) c.4605G>A (p.Glu1535=) c.1493G>A (p.Arg498Lys) c.4482G>A (p.Glu1494=) c.411G>A (p.Glu137=) n.1784G>A c.4626G>A (p.Glu1542=) c.4602G>A (p.Glu1534=) c.4530G>A (p.Glu1510=) | gnomAD v4 |
| 19 | g.50286547G>C | CA406958963 | MYH14 | c.4506G>C (p.Glu1502Asp) c.4605G>C (p.Glu1535Asp) c.1493G>C (p.Arg498Thr) c.4482G>C (p.Glu1494Asp) c.411G>C (p.Glu137Asp) n.1784G>C c.4626G>C (p.Glu1542Asp) c.4602G>C (p.Glu1534Asp) c.4530G>C (p.Glu1510Asp) | |
| 19 | g.50286547G>T | CA406958961 | MYH14 | c.4506G>T (p.Glu1502Asp) c.4605G>T (p.Glu1535Asp) c.1493G>T (p.Arg498Met) c.4482G>T (p.Glu1494Asp) c.411G>T (p.Glu137Asp) n.1784G>T c.4626G>T (p.Glu1542Asp) c.4602G>T (p.Glu1534Asp) c.4530G>T (p.Glu1510Asp) | |
| 19 | g.50286548G>A | CA406958965 | MYH14 | c.4507G>A (p.Gly1503Ser) c.4606G>A (p.Gly1536Ser) c.1494G>A (p.Arg498=) c.4483G>A (p.Gly1495Ser) c.412G>A (p.Gly138Ser) n.1785G>A c.4627G>A (p.Gly1543Ser) c.4603G>A (p.Gly1535Ser) c.4531G>A (p.Gly1511Ser) | dbSNP gnomAD v4 |
| 19 | g.50286548G>C | CA406958967 | MYH14 | c.4507G>C (p.Gly1503Arg) c.4606G>C (p.Gly1536Arg) c.1494G>C (p.Arg498Ser) c.4483G>C (p.Gly1495Arg) c.412G>C (p.Gly138Arg) n.1785G>C c.4627G>C (p.Gly1543Arg) c.4603G>C (p.Gly1535Arg) c.4531G>C (p.Gly1511Arg) | gnomAD v4 |
| 19 | g.50286548G= | CA2340825524 | MYH14 | c.4507G= (p.Gly1503=) c.4606G= (p.Gly1536=) c.1494G= (p.Arg498=) c.4483G= (p.Gly1495=) c.412G= (p.Gly138=) n.1785G= c.4627G= (p.Gly1543=) c.4603G= (p.Gly1535=) c.4531G= (p.Gly1511=) | |
| 19 | g.50286548G>T | CA406958968 | MYH14 | c.4507G>T (p.Gly1503Cys) c.4606G>T (p.Gly1536Cys) c.1494G>T (p.Arg498Ser) c.4483G>T (p.Gly1495Cys) c.412G>T (p.Gly138Cys) n.1785G>T c.4627G>T (p.Gly1543Cys) c.4603G>T (p.Gly1535Cys) c.4531G>T (p.Gly1511Cys) | |
| 19 | g.50286549G>A | CA406958970 | MYH14 | c.4508G>A (p.Gly1503Asp) c.4607G>A (p.Gly1536Asp) c.1495G>A (p.Ala499Thr) c.4484G>A (p.Gly1495Asp) c.413G>A (p.Gly138Asp) n.1786G>A c.4628G>A (p.Gly1543Asp) c.4604G>A (p.Gly1535Asp) c.4532G>A (p.Gly1511Asp) | |
| 19 | g.50286549G>C | CA406958971 | MYH14 | c.4508G>C (p.Gly1503Ala) c.4607G>C (p.Gly1536Ala) c.1495G>C (p.Ala499Pro) c.4484G>C (p.Gly1495Ala) c.413G>C (p.Gly138Ala) n.1786G>C c.4628G>C (p.Gly1543Ala) c.4604G>C (p.Gly1535Ala) c.4532G>C (p.Gly1511Ala) | |
| 19 | g.50286549G>T | CA406958973 | MYH14 | c.4508G>T (p.Gly1503Val) c.4607G>T (p.Gly1536Val) c.1495G>T (p.Ala499Ser) c.4484G>T (p.Gly1495Val) c.413G>T (p.Gly138Val) n.1786G>T c.4628G>T (p.Gly1543Val) c.4604G>T (p.Gly1535Val) c.4532G>T (p.Gly1511Val) | gnomAD v4 |
| 19 | g.50286549_50286570delinsGCCGGGAGCGTGAGGCTCGGGC | CA2340825525 | MYH14 | c.4508_4529delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1503=) c.4607_4628delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1536=) c.1495_1516delinsGCCGGGAGCGTGAGGCTCGGGC (p.Ala499=) c.4484_4505delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1495=) c.413_434delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly138=) n.1786_1807delinsGCCGGGAGCGTGAGGCTCGGGC c.4628_4649delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1543=) c.4604_4625delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1535=) c.4532_4553delinsGCCGGGAGCGTGAGGCTCGGGC (p.Gly1511=) | |
| 19 | g.50286550C>A | CA406958975 | MYH14 | c.4509C>A (p.Gly1503=) c.4608C>A (p.Gly1536=) c.1496C>A (p.Ala499Asp) c.4485C>A (p.Gly1495=) c.414C>A (p.Gly138=) n.1787C>A c.4629C>A (p.Gly1543=) c.4605C>A (p.Gly1535=) c.4533C>A (p.Gly1511=) | |
| 19 | g.50286550C>G | CA406958977 | MYH14 | c.4509C>G (p.Gly1503=) c.4608C>G (p.Gly1536=) c.1496C>G (p.Ala499Gly) c.4485C>G (p.Gly1495=) c.414C>G (p.Gly138=) n.1787C>G c.4629C>G (p.Gly1543=) c.4605C>G (p.Gly1535=) c.4533C>G (p.Gly1511=) | |
| 19 | g.50286550C>T | CA406958976 | MYH14 | c.4509C>T (p.Gly1503=) c.4608C>T (p.Gly1536=) c.1496C>T (p.Ala499Val) c.4485C>T (p.Gly1495=) c.414C>T (p.Gly138=) n.1787C>T c.4629C>T (p.Gly1543=) c.4605C>T (p.Gly1535=) c.4533C>T (p.Gly1511=) | |
| 19 | g.50286551del | CA2580097588 | MYH14 | c.4510del (p.Arg1504GlyfsTer10) c.4609del (p.Arg1537GlyfsTer10) c.1497del (p.Ser501AlafsTer2) c.4486del (p.Arg1496GlyfsTer10) c.415del (p.Arg139GlyfsTer10) n.1788del c.4630del (p.Arg1544GlyfsTer10) c.4606del (p.Arg1536GlyfsTer10) c.4534del (p.Arg1512GlyfsTer10) | ClinVar |
| 19 | g.50286552_50286572del | CA2340825526 | MYH14 | c.4511_4531del (p.Arg1504_Ala1510del) c.4610_4630del (p.Arg1537_Ala1543del) c.1498_1518del (p.Gly500_Pro506del) c.4487_4507del (p.Arg1496_Ala1502del) c.416_436del (p.Arg139_Ala145del) n.1789_1809del c.4631_4651del (p.Arg1544_Ala1550del) c.4607_4627del (p.Arg1536_Ala1542del) c.4535_4555del (p.Arg1512_Ala1518del) | dbSNP |
| 19 | g.50286551C>A | CA508177999 | MYH14 | c.4510C>A (p.Arg1504=) c.4609C>A (p.Arg1537=) c.1497C>A (p.Ala499=) c.4486C>A (p.Arg1496=) c.415C>A (p.Arg139=) n.1788C>A c.4630C>A (p.Arg1544=) c.4606C>A (p.Arg1536=) c.4534C>A (p.Arg1512=) | |
| 19 | g.50286551C= | CA2340825527 | MYH14 | c.4510C= (p.Arg1504=) c.4609C= (p.Arg1537=) c.1497C= (p.Ala499=) c.4486C= (p.Arg1496=) c.415C= (p.Arg139=) n.1788C= c.4630C= (p.Arg1544=) c.4606C= (p.Arg1536=) c.4534C= (p.Arg1512=) | |
| 19 | g.50286551C>G | CA406958979 | MYH14 | c.4510C>G (p.Arg1504Gly) c.4609C>G (p.Arg1537Gly) c.1497C>G (p.Ala499=) c.4486C>G (p.Arg1496Gly) c.415C>G (p.Arg139Gly) n.1788C>G c.4630C>G (p.Arg1544Gly) c.4606C>G (p.Arg1536Gly) c.4534C>G (p.Arg1512Gly) | gnomAD v4 |
| 19 | g.50286551C>T | CA9593556 | MYH14 | c.4510C>T (p.Arg1504Trp) c.4609C>T (p.Arg1537Trp) c.1497C>T (p.Ala499=) c.4486C>T (p.Arg1496Trp) c.415C>T (p.Arg139Trp) n.1788C>T c.4630C>T (p.Arg1544Trp) c.4606C>T (p.Arg1536Trp) c.4534C>T (p.Arg1512Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50286552G>A | CA9593557 | MYH14 | c.4511G>A (p.Arg1504Gln) c.4610G>A (p.Arg1537Gln) c.1498G>A (p.Gly500Arg) c.4487G>A (p.Arg1496Gln) c.416G>A (p.Arg139Gln) n.1789G>A c.4631G>A (p.Arg1544Gln) c.4607G>A (p.Arg1536Gln) c.4535G>A (p.Arg1512Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.50286552G>C | CA406958982 | MYH14 | c.4511G>C (p.Arg1504Pro) c.4610G>C (p.Arg1537Pro) c.1498G>C (p.Gly500Arg) c.4487G>C (p.Arg1496Pro) c.416G>C (p.Arg139Pro) n.1789G>C c.4631G>C (p.Arg1544Pro) c.4607G>C (p.Arg1536Pro) c.4535G>C (p.Arg1512Pro) | |
| 19 | g.50286552G= | CA2340825528 | MYH14 | c.4511G= (p.Arg1504=) c.4610G= (p.Arg1537=) c.1498G= (p.Gly500=) c.4487G= (p.Arg1496=) c.416G= (p.Arg139=) n.1789G= c.4631G= (p.Arg1544=) c.4607G= (p.Arg1536=) c.4535G= (p.Arg1512=) | |
| 19 | g.50286552G>T | CA406958984 | MYH14 | c.4511G>T (p.Arg1504Leu) c.4610G>T (p.Arg1537Leu) c.1498G>T (p.Gly500Trp) c.4487G>T (p.Arg1496Leu) c.416G>T (p.Arg139Leu) n.1789G>T c.4631G>T (p.Arg1544Leu) c.4607G>T (p.Arg1536Leu) c.4535G>T (p.Arg1512Leu) | |
| 19 | g.50286553G>A | CA406958989 | MYH14 | c.4512G>A (p.Arg1504=) c.4611G>A (p.Arg1537=) c.1499G>A (p.Gly500Glu) c.4488G>A (p.Arg1496=) c.417G>A (p.Arg139=) n.1790G>A c.4632G>A (p.Arg1544=) c.4608G>A (p.Arg1536=) c.4536G>A (p.Arg1512=) | dbSNP gnomAD v2 |
| 19 | g.50286553G>C | CA406958991 | MYH14 | c.4512G>C (p.Arg1504=) c.4611G>C (p.Arg1537=) c.1499G>C (p.Gly500Ala) c.4488G>C (p.Arg1496=) c.417G>C (p.Arg139=) n.1790G>C c.4632G>C (p.Arg1544=) c.4608G>C (p.Arg1536=) c.4536G>C (p.Arg1512=) | |
| 19 | g.50286553G= | CA2340825529 | MYH14 | c.4512G= (p.Arg1504=) c.4611G= (p.Arg1537=) c.1499G= (p.Gly500=) c.4488G= (p.Arg1496=) c.417G= (p.Arg139=) n.1790G= c.4632G= (p.Arg1544=) c.4608G= (p.Arg1536=) c.4536G= (p.Arg1512=) | |
| 19 | g.50286553G>T | CA406958987 | MYH14 | c.4512G>T (p.Arg1504=) c.4611G>T (p.Arg1537=) c.1499G>T (p.Gly500Val) c.4488G>T (p.Arg1496=) c.417G>T (p.Arg139=) n.1790G>T c.4632G>T (p.Arg1544=) c.4608G>T (p.Arg1536=) c.4536G>T (p.Arg1512=) | |
| 19 | g.50286554G>A | CA406958994 | MYH14 | c.4513G>A (p.Glu1505Lys) c.4612G>A (p.Glu1538Lys) c.1500G>A (p.Gly500=) c.4489G>A (p.Glu1497Lys) c.418G>A (p.Glu140Lys) n.1791G>A c.4633G>A (p.Glu1545Lys) c.4609G>A (p.Glu1537Lys) c.4537G>A (p.Glu1513Lys) | |
| 19 | g.50286554G>C | CA406958996 | MYH14 | c.4513G>C (p.Glu1505Gln) c.4612G>C (p.Glu1538Gln) c.1500G>C (p.Gly500=) c.4489G>C (p.Glu1497Gln) c.418G>C (p.Glu140Gln) n.1791G>C c.4633G>C (p.Glu1545Gln) c.4609G>C (p.Glu1537Gln) c.4537G>C (p.Glu1513Gln) | |
| 19 | g.50286554G>T | CA406958997 | MYH14 | c.4513G>T (p.Glu1505Ter) c.4612G>T (p.Glu1538Ter) c.1500G>T (p.Gly500=) c.4489G>T (p.Glu1497Ter) c.418G>T (p.Glu140Ter) n.1791G>T c.4633G>T (p.Glu1545Ter) c.4609G>T (p.Glu1537Ter) c.4537G>T (p.Glu1513Ter) | |
| 19 | g.50286555A>C | CA406959000 | MYH14 | c.4514A>C (p.Glu1505Ala) c.4613A>C (p.Glu1538Ala) c.1501A>C (p.Ser501Arg) c.4490A>C (p.Glu1497Ala) c.419A>C (p.Glu140Ala) n.1792A>C c.4634A>C (p.Glu1545Ala) c.4610A>C (p.Glu1537Ala) c.4538A>C (p.Glu1513Ala) | |
| 19 | g.50286555A>G | CA406959002 | MYH14 | c.4514A>G (p.Glu1505Gly) c.4613A>G (p.Glu1538Gly) c.1501A>G (p.Ser501Gly) c.4490A>G (p.Glu1497Gly) c.419A>G (p.Glu140Gly) n.1792A>G c.4634A>G (p.Glu1545Gly) c.4610A>G (p.Glu1537Gly) c.4538A>G (p.Glu1513Gly) | |
| 19 | g.50286555A>T | CA406959003 | MYH14 | c.4514A>T (p.Glu1505Val) c.4613A>T (p.Glu1538Val) c.1501A>T (p.Ser501Cys) c.4490A>T (p.Glu1497Val) c.419A>T (p.Glu140Val) n.1792A>T c.4634A>T (p.Glu1545Val) c.4610A>T (p.Glu1537Val) c.4538A>T (p.Glu1513Val) | |
| 19 | g.50286556G>A | CA9593558 | MYH14 | c.4515G>A (p.Glu1505=) c.4614G>A (p.Glu1538=) c.1502G>A (p.Ser501Asn) c.4491G>A (p.Glu1497=) c.420G>A (p.Glu140=) n.1793G>A c.4635G>A (p.Glu1545=) c.4611G>A (p.Glu1537=) c.4539G>A (p.Glu1513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50286556G>C | CA406959005 | MYH14 | c.4515G>C (p.Glu1505Asp) c.4614G>C (p.Glu1538Asp) c.1502G>C (p.Ser501Thr) c.4491G>C (p.Glu1497Asp) c.420G>C (p.Glu140Asp) n.1793G>C c.4635G>C (p.Glu1545Asp) c.4611G>C (p.Glu1537Asp) c.4539G>C (p.Glu1513Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.50286556G= | CA2340825530 | MYH14 | c.4515G= (p.Glu1505=) c.4614G= (p.Glu1538=) c.1502G= (p.Ser501=) c.4491G= (p.Glu1497=) c.420G= (p.Glu140=) n.1793G= c.4635G= (p.Glu1545=) c.4611G= (p.Glu1537=) c.4539G= (p.Glu1513=) | |
| 19 | g.50286556G>T | CA406959007 | MYH14 | c.4515G>T (p.Glu1505Asp) c.4614G>T (p.Glu1538Asp) c.1502G>T (p.Ser501Ile) c.4491G>T (p.Glu1497Asp) c.420G>T (p.Glu140Asp) n.1793G>T c.4635G>T (p.Glu1545Asp) c.4611G>T (p.Glu1537Asp) c.4539G>T (p.Glu1513Asp) | |
| 19 | g.50286557C>A | CA406959009 | MYH14 | c.4516C>A (p.Arg1506Ser) c.4615C>A (p.Arg1539Ser) c.1503C>A (p.Ser501Arg) c.4492C>A (p.Arg1498Ser) c.421C>A (p.Arg141Ser) n.1794C>A c.4636C>A (p.Arg1546Ser) c.4612C>A (p.Arg1538Ser) c.4540C>A (p.Arg1514Ser) | |
| 19 | g.50286557C= | CA2340825531 | MYH14 | c.4516C= (p.Arg1506=) c.4615C= (p.Arg1539=) c.1503C= (p.Ser501=) c.4492C= (p.Arg1498=) c.421C= (p.Arg141=) n.1794C= c.4636C= (p.Arg1546=) c.4612C= (p.Arg1538=) c.4540C= (p.Arg1514=) | |
| 19 | g.50286557C>G | CA406959011 | MYH14 | c.4516C>G (p.Arg1506Gly) c.4615C>G (p.Arg1539Gly) c.1503C>G (p.Ser501Arg) c.4492C>G (p.Arg1498Gly) c.421C>G (p.Arg141Gly) n.1794C>G c.4636C>G (p.Arg1546Gly) c.4612C>G (p.Arg1538Gly) c.4540C>G (p.Arg1514Gly) | gnomAD v4 |
| 19 | g.50286557C>T | CA9593559 | MYH14 | c.4516C>T (p.Arg1506Cys) c.4615C>T (p.Arg1539Cys) c.1503C>T (p.Ser501=) c.4492C>T (p.Arg1498Cys) c.421C>T (p.Arg141Cys) n.1794C>T c.4636C>T (p.Arg1546Cys) c.4612C>T (p.Arg1538Cys) c.4540C>T (p.Arg1514Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50286558G>A | CA9593560 | MYH14 | c.4517G>A (p.Arg1506His) c.4616G>A (p.Arg1539His) c.1504G>A (p.Val502Met) c.4493G>A (p.Arg1498His) c.422G>A (p.Arg141His) n.1795G>A c.4637G>A (p.Arg1546His) c.4613G>A (p.Arg1538His) c.4541G>A (p.Arg1514His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50286558G>C | CA406959015 | MYH14 | c.4517G>C (p.Arg1506Pro) c.4616G>C (p.Arg1539Pro) c.1504G>C (p.Val502Leu) c.4493G>C (p.Arg1498Pro) c.422G>C (p.Arg141Pro) n.1795G>C c.4637G>C (p.Arg1546Pro) c.4613G>C (p.Arg1538Pro) c.4541G>C (p.Arg1514Pro) | |
| 19 | g.50286558G= | CA2340825532 | MYH14 | c.4517G= (p.Arg1506=) c.4616G= (p.Arg1539=) c.1504G= (p.Val502=) c.4493G= (p.Arg1498=) c.422G= (p.Arg141=) n.1795G= c.4637G= (p.Arg1546=) c.4613G= (p.Arg1538=) c.4541G= (p.Arg1514=) | |
| 19 | g.50286558G>T | CA406959016 | MYH14 | c.4517G>T (p.Arg1506Leu) c.4616G>T (p.Arg1539Leu) c.1504G>T (p.Val502Leu) c.4493G>T (p.Arg1498Leu) c.422G>T (p.Arg141Leu) n.1795G>T c.4637G>T (p.Arg1546Leu) c.4613G>T (p.Arg1538Leu) c.4541G>T (p.Arg1514Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.50286559T>A | CA406959018 | MYH14 | c.4518T>A (p.Arg1506=) c.4617T>A (p.Arg1539=) c.1505T>A (p.Val502Glu) c.4494T>A (p.Arg1498=) c.423T>A (p.Arg141=) n.1796T>A c.4638T>A (p.Arg1546=) c.4614T>A (p.Arg1538=) c.4542T>A (p.Arg1514=) | |
| 19 | g.50286559T>C | CA406959020 | MYH14 | c.4518T>C (p.Arg1506=) c.4617T>C (p.Arg1539=) c.1505T>C (p.Val502Ala) c.4494T>C (p.Arg1498=) c.423T>C (p.Arg141=) n.1796T>C c.4638T>C (p.Arg1546=) c.4614T>C (p.Arg1538=) c.4542T>C (p.Arg1514=) | dbSNP gnomAD v4 |
| 19 | g.50286559T>G | CA9593561 | MYH14 | c.4518T>G (p.Arg1506=) c.4617T>G (p.Arg1539=) c.1505T>G (p.Val502Gly) c.4494T>G (p.Arg1498=) c.423T>G (p.Arg141=) n.1796T>G c.4638T>G (p.Arg1546=) c.4614T>G (p.Arg1538=) c.4542T>G (p.Arg1514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50286559T= | CA2340825533 | MYH14 | c.4518T= (p.Arg1506=) c.4617T= (p.Arg1539=) c.1505T= (p.Val502=) c.4494T= (p.Arg1498=) c.423T= (p.Arg141=) n.1796T= c.4638T= (p.Arg1546=) c.4614T= (p.Arg1538=) c.4542T= (p.Arg1514=) |