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.50286647dup | CA2586548536 | MYH14 | c.4606dup (p.Ala1536GlyfsTer2) c.4705dup (p.Ala1569GlyfsTer2) c.*66dup (n.*66dup) c.4582dup (p.Ala1528GlyfsTer2) c.511dup (p.Ala171GlyfsTer2) n.1884dup c.4726dup (p.Ala1576GlyfsTer2) c.4702dup (p.Ala1568GlyfsTer2) c.4630dup (p.Ala1544GlyfsTer2) | gnomAD v4 |
| 19 | g.50286647G>A | CA406959382 | MYH14 | c.4606G>A (p.Ala1536Thr) c.4705G>A (p.Ala1569Thr) c.*66G>A (n.*66G>A) c.4582G>A (p.Ala1528Thr) c.511G>A (p.Ala171Thr) n.1884G>A c.4726G>A (p.Ala1576Thr) c.4702G>A (p.Ala1568Thr) c.4630G>A (p.Ala1544Thr) | gnomAD v4 |
| 19 | g.50286647G>C | CA406959384 | MYH14 | c.4606G>C (p.Ala1536Pro) c.4705G>C (p.Ala1569Pro) c.*66G>C (n.*66G>C) c.4582G>C (p.Ala1528Pro) c.511G>C (p.Ala171Pro) n.1884G>C c.4726G>C (p.Ala1576Pro) c.4702G>C (p.Ala1568Pro) c.4630G>C (p.Ala1544Pro) | |
| 19 | g.50286647G= | CA2340825574 | MYH14 | c.4606G= (p.Ala1536=) c.4705G= (p.Ala1569=) c.*66G= (n.*66G=) c.4582G= (p.Ala1528=) c.511G= (p.Ala171=) n.1884G= c.4726G= (p.Ala1576=) c.4702G= (p.Ala1568=) c.4630G= (p.Ala1544=) | |
| 19 | g.50286647G>T | CA176915 | MYH14 | c.4606G>T (p.Ala1536Ser) c.4705G>T (p.Ala1569Ser) c.*66G>T (n.*66G>T) c.4582G>T (p.Ala1528Ser) c.511G>T (p.Ala171Ser) n.1884G>T c.4726G>T (p.Ala1576Ser) c.4702G>T (p.Ala1568Ser) c.4630G>T (p.Ala1544Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50286648C>A | CA406959387 | MYH14 | c.4607C>A (p.Ala1536Asp) c.4706C>A (p.Ala1569Asp) c.*67C>A (n.*67C>A) c.4583C>A (p.Ala1528Asp) c.512C>A (p.Ala171Asp) n.1885C>A c.4727C>A (p.Ala1576Asp) c.4703C>A (p.Ala1568Asp) c.4631C>A (p.Ala1544Asp) | gnomAD v4 |
| 19 | g.50286648C= | CA2340825575 | MYH14 | c.4607C= (p.Ala1536=) c.4706C= (p.Ala1569=) c.*67C= (n.*67C=) c.4583C= (p.Ala1528=) c.512C= (p.Ala171=) n.1885C= c.4727C= (p.Ala1576=) c.4703C= (p.Ala1568=) c.4631C= (p.Ala1544=) | |
| 19 | g.50286648C>G | CA406959389 | MYH14 | c.4607C>G (p.Ala1536Gly) c.4706C>G (p.Ala1569Gly) c.*67C>G (n.*67C>G) c.4583C>G (p.Ala1528Gly) c.512C>G (p.Ala171Gly) n.1885C>G c.4727C>G (p.Ala1576Gly) c.4703C>G (p.Ala1568Gly) c.4631C>G (p.Ala1544Gly) | |
| 19 | g.50286648C>T | CA9593579 | MYH14 | c.4607C>T (p.Ala1536Val) c.4706C>T (p.Ala1569Val) c.*67C>T (n.*67C>T) c.4583C>T (p.Ala1528Val) c.512C>T (p.Ala171Val) n.1885C>T c.4727C>T (p.Ala1576Val) c.4703C>T (p.Ala1568Val) c.4631C>T (p.Ala1544Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.50286649T>A | CA508178058 | MYH14 | c.4608T>A (p.Ala1536=) c.4707T>A (p.Ala1569=) c.*68T>A (n.*68T>A) c.4584T>A (p.Ala1528=) c.513T>A (p.Ala171=) n.1886T>A c.4728T>A (p.Ala1576=) c.4704T>A (p.Ala1568=) c.4632T>A (p.Ala1544=) | |
| 19 | g.50286649T>C | CA508178059 | MYH14 | c.4608T>C (p.Ala1536=) c.4707T>C (p.Ala1569=) c.*68T>C (n.*68T>C) c.4584T>C (p.Ala1528=) c.513T>C (p.Ala171=) n.1886T>C c.4728T>C (p.Ala1576=) c.4704T>C (p.Ala1568=) c.4632T>C (p.Ala1544=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.50286649T>G | CA508178060 | MYH14 | c.4608T>G (p.Ala1536=) c.4707T>G (p.Ala1569=) c.*68T>G (n.*68T>G) c.4584T>G (p.Ala1528=) c.513T>G (p.Ala171=) n.1886T>G c.4728T>G (p.Ala1576=) c.4704T>G (p.Ala1568=) c.4632T>G (p.Ala1544=) | |
| 19 | g.50286649T= | CA2340825576 | MYH14 | c.4608T= (p.Ala1536=) c.4707T= (p.Ala1569=) c.*68T= (n.*68T=) c.4584T= (p.Ala1528=) c.513T= (p.Ala171=) n.1886T= c.4728T= (p.Ala1576=) c.4704T= (p.Ala1568=) c.4632T= (p.Ala1544=) | |
| 19 | g.50286650G>A | CA406959392 | MYH14 | c.4609G>A (p.Glu1537Lys) c.4708G>A (p.Glu1570Lys) c.*69G>A (n.*69G>A) c.4585G>A (p.Glu1529Lys) c.514G>A (p.Glu172Lys) n.1887G>A c.4729G>A (p.Glu1577Lys) c.4705G>A (p.Glu1569Lys) c.4633G>A (p.Glu1545Lys) | gnomAD v4 |
| 19 | g.50286650G>C | CA406959394 | MYH14 | c.4609G>C (p.Glu1537Gln) c.4708G>C (p.Glu1570Gln) c.*69G>C (n.*69G>C) c.4585G>C (p.Glu1529Gln) c.514G>C (p.Glu172Gln) n.1887G>C c.4729G>C (p.Glu1577Gln) c.4705G>C (p.Glu1569Gln) c.4633G>C (p.Glu1545Gln) | |
| 19 | g.50286650G= | CA2340825577 | MYH14 | c.4609G= (p.Glu1537=) c.4708G= (p.Glu1570=) c.*69G= (n.*69G=) c.4585G= (p.Glu1529=) c.514G= (p.Glu172=) n.1887G= c.4729G= (p.Glu1577=) c.4705G= (p.Glu1569=) c.4633G= (p.Glu1545=) | |
| 19 | g.50286650G>T | CA309579977 | MYH14 | c.4609G>T (p.Glu1537Ter) c.4708G>T (p.Glu1570Ter) c.*69G>T (n.*69G>T) c.4585G>T (p.Glu1529Ter) c.514G>T (p.Glu172Ter) n.1887G>T c.4729G>T (p.Glu1577Ter) c.4705G>T (p.Glu1569Ter) c.4633G>T (p.Glu1545Ter) | dbSNP gnomAD v4 |
| 19 | g.50286651A>C | CA406959396 | MYH14 | c.4610A>C (p.Glu1537Ala) c.4709A>C (p.Glu1570Ala) c.*70A>C (n.*70A>C) c.4586A>C (p.Glu1529Ala) c.515A>C (p.Glu172Ala) n.1888A>C c.4730A>C (p.Glu1577Ala) c.4706A>C (p.Glu1569Ala) c.4634A>C (p.Glu1545Ala) | gnomAD v4 |
| 19 | g.50286651A>G | CA406959397 | MYH14 | c.4610A>G (p.Glu1537Gly) c.4709A>G (p.Glu1570Gly) c.*70A>G (n.*70A>G) c.4586A>G (p.Glu1529Gly) c.515A>G (p.Glu172Gly) n.1888A>G c.4730A>G (p.Glu1577Gly) c.4706A>G (p.Glu1569Gly) c.4634A>G (p.Glu1545Gly) | |
| 19 | g.50286651A>T | CA406959398 | MYH14 | c.4610A>T (p.Glu1537Val) c.4709A>T (p.Glu1570Val) c.*70A>T (n.*70A>T) c.4586A>T (p.Glu1529Val) c.515A>T (p.Glu172Val) n.1888A>T c.4730A>T (p.Glu1577Val) c.4706A>T (p.Glu1569Val) c.4634A>T (p.Glu1545Val) | |
| 19 | g.50286652G>A | CA508178061 | MYH14 | c.4611G>A (p.Glu1537=) c.4710G>A (p.Glu1570=) c.*71G>A (n.*71G>A) c.4587G>A (p.Glu1529=) c.516G>A (p.Glu172=) n.1889G>A c.4731G>A (p.Glu1577=) c.4707G>A (p.Glu1569=) c.4635G>A (p.Glu1545=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.50286652G>C | CA406959399 | MYH14 | c.4611G>C (p.Glu1537Asp) c.4710G>C (p.Glu1570Asp) c.*71G>C (n.*71G>C) c.4587G>C (p.Glu1529Asp) c.516G>C (p.Glu172Asp) n.1889G>C c.4731G>C (p.Glu1577Asp) c.4707G>C (p.Glu1569Asp) c.4635G>C (p.Glu1545Asp) | |
| 19 | g.50286652G= | CA2340825578 | MYH14 | c.4611G= (p.Glu1537=) c.4710G= (p.Glu1570=) c.*71G= (n.*71G=) c.4587G= (p.Glu1529=) c.516G= (p.Glu172=) n.1889G= c.4731G= (p.Glu1577=) c.4707G= (p.Glu1569=) c.4635G= (p.Glu1545=) | |
| 19 | g.50286652G>T | CA406959400 | MYH14 | c.4611G>T (p.Glu1537Asp) c.4710G>T (p.Glu1570Asp) c.*71G>T (n.*71G>T) c.4587G>T (p.Glu1529Asp) c.516G>T (p.Glu172Asp) n.1889G>T c.4731G>T (p.Glu1577Asp) c.4707G>T (p.Glu1569Asp) c.4635G>T (p.Glu1545Asp) | |
| 19 | g.50286653C>A | CA406959402 | MYH14 | c.4612C>A (p.Leu1538Met) c.4711C>A (p.Leu1571Met) c.*72C>A (n.*72C>A) c.4588C>A (p.Leu1530Met) c.517C>A (p.Leu173Met) n.1890C>A c.4732C>A (p.Leu1578Met) c.4708C>A (p.Leu1570Met) c.4636C>A (p.Leu1546Met) | gnomAD v4 |
| 19 | g.50286653C>G | CA406959401 | MYH14 | c.4612C>G (p.Leu1538Val) c.4711C>G (p.Leu1571Val) c.*72C>G (n.*72C>G) c.4588C>G (p.Leu1530Val) c.517C>G (p.Leu173Val) n.1890C>G c.4732C>G (p.Leu1578Val) c.4708C>G (p.Leu1570Val) c.4636C>G (p.Leu1546Val) | |
| 19 | g.50286653C>T | CA508178062 | MYH14 | c.4612C>T (p.Leu1538=) c.4711C>T (p.Leu1571=) c.*72C>T (n.*72C>T) c.4588C>T (p.Leu1530=) c.517C>T (p.Leu173=) n.1890C>T c.4732C>T (p.Leu1578=) c.4708C>T (p.Leu1570=) c.4636C>T (p.Leu1546=) | gnomAD v4 |
| 19 | g.50286654T>A | CA406959403 | MYH14 | c.4613T>A (p.Leu1538Gln) c.4712T>A (p.Leu1571Gln) c.*73T>A (n.*73T>A) c.4589T>A (p.Leu1530Gln) c.518T>A (p.Leu173Gln) n.1891T>A c.4733T>A (p.Leu1578Gln) c.4709T>A (p.Leu1570Gln) c.4637T>A (p.Leu1546Gln) | |
| 19 | g.50286654T>C | CA406959404 | MYH14 | c.4613T>C (p.Leu1538Pro) c.4712T>C (p.Leu1571Pro) c.*73T>C (n.*73T>C) c.4589T>C (p.Leu1530Pro) c.518T>C (p.Leu173Pro) n.1891T>C c.4733T>C (p.Leu1578Pro) c.4709T>C (p.Leu1570Pro) c.4637T>C (p.Leu1546Pro) | |
| 19 | g.50286654T>G | CA406959405 | MYH14 | c.4613T>G (p.Leu1538Arg) c.4712T>G (p.Leu1571Arg) c.*73T>G (n.*73T>G) c.4589T>G (p.Leu1530Arg) c.518T>G (p.Leu173Arg) n.1891T>G c.4733T>G (p.Leu1578Arg) c.4709T>G (p.Leu1570Arg) c.4637T>G (p.Leu1546Arg) | |
| 19 | g.50286655G>A | CA508178063 | MYH14 | c.4614G>A (p.Leu1538=) c.4713G>A (p.Leu1571=) c.*74G>A (n.*74G>A) c.4590G>A (p.Leu1530=) c.519G>A (p.Leu173=) n.1892G>A c.4734G>A (p.Leu1578=) c.4710G>A (p.Leu1570=) c.4638G>A (p.Leu1546=) | gnomAD v4 |
| 19 | g.50286655G>C | CA508178064 | MYH14 | c.4614G>C (p.Leu1538=) c.4713G>C (p.Leu1571=) c.*74G>C (n.*74G>C) c.4590G>C (p.Leu1530=) c.519G>C (p.Leu173=) n.1892G>C c.4734G>C (p.Leu1578=) c.4710G>C (p.Leu1570=) c.4638G>C (p.Leu1546=) | |
| 19 | g.50286655G= | CA2340825579 | MYH14 | c.4614G= (p.Leu1538=) c.4713G= (p.Leu1571=) c.*74G= (n.*74G=) c.4590G= (p.Leu1530=) c.519G= (p.Leu173=) n.1892G= c.4734G= (p.Leu1578=) c.4710G= (p.Leu1570=) c.4638G= (p.Leu1546=) | |
| 19 | g.50286655G>T | CA9593580 | MYH14 | c.4614G>T (p.Leu1538=) c.4713G>T (p.Leu1571=) c.*74G>T (n.*74G>T) c.4590G>T (p.Leu1530=) c.519G>T (p.Leu173=) n.1892G>T c.4734G>T (p.Leu1578=) c.4710G>T (p.Leu1570=) c.4638G>T (p.Leu1546=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.50286656G>A | CA9593581 | MYH14 | c.4615G>A (p.Glu1539Lys) c.4714G>A (p.Glu1572Lys) c.*75G>A (n.*75G>A) c.4591G>A (p.Glu1531Lys) c.520G>A (p.Glu174Lys) n.1893G>A c.4735G>A (p.Glu1579Lys) c.4711G>A (p.Glu1571Lys) c.4639G>A (p.Glu1547Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.50286656G>C | CA406959406 | MYH14 | c.4615G>C (p.Glu1539Gln) c.4714G>C (p.Glu1572Gln) c.*75G>C (n.*75G>C) c.4591G>C (p.Glu1531Gln) c.520G>C (p.Glu174Gln) n.1893G>C c.4735G>C (p.Glu1579Gln) c.4711G>C (p.Glu1571Gln) c.4639G>C (p.Glu1547Gln) | |
| 19 | g.50286656G= | CA2340825580 | MYH14 | c.4615G= (p.Glu1539=) c.4714G= (p.Glu1572=) c.*75G= (n.*75G=) c.4591G= (p.Glu1531=) c.520G= (p.Glu174=) n.1893G= c.4735G= (p.Glu1579=) c.4711G= (p.Glu1571=) c.4639G= (p.Glu1547=) | |
| 19 | g.50286656G>T | CA406959407 | MYH14 | c.4615G>T (p.Glu1539Ter) c.4714G>T (p.Glu1572Ter) c.*75G>T (n.*75G>T) c.4591G>T (p.Glu1531Ter) c.520G>T (p.Glu174Ter) n.1893G>T c.4735G>T (p.Glu1579Ter) c.4711G>T (p.Glu1571Ter) c.4639G>T (p.Glu1547Ter) | |
| 19 | g.50286657A>C | CA406959408 | MYH14 | c.4616A>C (p.Glu1539Ala) c.4715A>C (p.Glu1572Ala) c.*76A>C (n.*76A>C) c.4592A>C (p.Glu1531Ala) c.521A>C (p.Glu174Ala) n.1894A>C c.4736A>C (p.Glu1579Ala) c.4712A>C (p.Glu1571Ala) c.4640A>C (p.Glu1547Ala) | gnomAD v4 |
| 19 | g.50286657A>G | CA406959409 | MYH14 | c.4616A>G (p.Glu1539Gly) c.4715A>G (p.Glu1572Gly) c.*76A>G (n.*76A>G) c.4592A>G (p.Glu1531Gly) c.521A>G (p.Glu174Gly) n.1894A>G c.4736A>G (p.Glu1579Gly) c.4712A>G (p.Glu1571Gly) c.4640A>G (p.Glu1547Gly) | gnomAD v4 |
| 19 | g.50286657A>T | CA406959410 | MYH14 | c.4616A>T (p.Glu1539Val) c.4715A>T (p.Glu1572Val) c.*76A>T (n.*76A>T) c.4592A>T (p.Glu1531Val) c.521A>T (p.Glu174Val) n.1894A>T c.4736A>T (p.Glu1579Val) c.4712A>T (p.Glu1571Val) c.4640A>T (p.Glu1547Val) | |
| 19 | g.50286658G>A | CA9593582 | MYH14 | c.4617G>A (p.Glu1539=) c.4716G>A (p.Glu1572=) c.*77G>A (n.*77G>A) c.4593G>A (p.Glu1531=) c.522G>A (p.Glu174=) n.1895G>A c.4737G>A (p.Glu1579=) c.4713G>A (p.Glu1571=) c.4641G>A (p.Glu1547=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.50286658G>C | CA406959411 | MYH14 | c.4617G>C (p.Glu1539Asp) c.4716G>C (p.Glu1572Asp) c.*77G>C (n.*77G>C) c.4593G>C (p.Glu1531Asp) c.522G>C (p.Glu174Asp) n.1895G>C c.4737G>C (p.Glu1579Asp) c.4713G>C (p.Glu1571Asp) c.4641G>C (p.Glu1547Asp) | |
| 19 | g.50286658G= | CA2340825581 | MYH14 | c.4617G= (p.Glu1539=) c.4716G= (p.Glu1572=) c.*77G= (n.*77G=) c.4593G= (p.Glu1531=) c.522G= (p.Glu174=) n.1895G= c.4737G= (p.Glu1579=) c.4713G= (p.Glu1571=) c.4641G= (p.Glu1547=) | |
| 19 | g.50286658G>T | CA406959412 | MYH14 | c.4617G>T (p.Glu1539Asp) c.4716G>T (p.Glu1572Asp) c.*77G>T (n.*77G>T) c.4593G>T (p.Glu1531Asp) c.522G>T (p.Glu174Asp) n.1895G>T c.4737G>T (p.Glu1579Asp) c.4713G>T (p.Glu1571Asp) c.4641G>T (p.Glu1547Asp) | gnomAD v4 |
| 19 | g.50286659G>A | CA406959413 | MYH14 | c.4618G>A (p.Ala1540Thr) c.4717G>A (p.Ala1573Thr) c.*78G>A (n.*78G>A) c.4594G>A (p.Ala1532Thr) c.523G>A (p.Ala175Thr) n.1896G>A c.4738G>A (p.Ala1580Thr) c.4714G>A (p.Ala1572Thr) c.4642G>A (p.Ala1548Thr) | gnomAD v4 |
| 19 | g.50286659G>C | CA406959415 | MYH14 | c.4618G>C (p.Ala1540Pro) c.4717G>C (p.Ala1573Pro) c.*78G>C (n.*78G>C) c.4594G>C (p.Ala1532Pro) c.523G>C (p.Ala175Pro) n.1896G>C c.4738G>C (p.Ala1580Pro) c.4714G>C (p.Ala1572Pro) c.4642G>C (p.Ala1548Pro) | |
| 19 | g.50286659G>T | CA406959414 | MYH14 | c.4618G>T (p.Ala1540Ser) c.4717G>T (p.Ala1573Ser) c.*78G>T (n.*78G>T) c.4594G>T (p.Ala1532Ser) c.523G>T (p.Ala175Ser) n.1896G>T c.4738G>T (p.Ala1580Ser) c.4714G>T (p.Ala1572Ser) c.4642G>T (p.Ala1548Ser) | gnomAD v4 COSMIC COSMIC |
| 19 | g.50286660C>A | CA406959416 | MYH14 | c.4619C>A (p.Ala1540Glu) c.4718C>A (p.Ala1573Glu) c.*79C>A (n.*79C>A) c.4595C>A (p.Ala1532Glu) c.524C>A (p.Ala175Glu) n.1897C>A c.4739C>A (p.Ala1580Glu) c.4715C>A (p.Ala1572Glu) c.4643C>A (p.Ala1548Glu) | gnomAD v4 |
| 19 | g.50286660C>G | CA406959417 | MYH14 | c.4619C>G (p.Ala1540Gly) c.4718C>G (p.Ala1573Gly) c.*79C>G (n.*79C>G) c.4595C>G (p.Ala1532Gly) c.524C>G (p.Ala175Gly) n.1897C>G c.4739C>G (p.Ala1580Gly) c.4715C>G (p.Ala1572Gly) c.4643C>G (p.Ala1548Gly) |