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 |
|---|---|---|---|---|---|
| 10 | g.26125351_26125438dup | CA2608576629 | MYO3A | n.2108-47_2148dup c.1904-47_1944dup c.1777-47_1817dup c.1776+28669_1776+28756dup (n.1776+28669_1776+28756dup) c.1541-47_1581dup c.32-47_72dup | gnomAD v4 |
| 10 | g.26125410T>A | CA376341230 | MYO3A | n.2120T>A c.1916T>A (p.Leu639His) c.1789T>A (p.Phe597Ile) c.1776+28728T>A (n.1776+28728T>A) c.1553T>A (p.Leu518His) c.44T>A (p.Leu15His) | |
| 10 | g.26125410T>C | CA376341231 | MYO3A | n.2120T>C c.1916T>C (p.Leu639Pro) c.1789T>C (p.Phe597Leu) c.1776+28728T>C (n.1776+28728T>C) c.1553T>C (p.Leu518Pro) c.44T>C (p.Leu15Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.26125410T>G | CA376341232 | MYO3A | n.2120T>G c.1916T>G (p.Leu639Arg) c.1789T>G (p.Phe597Val) c.1776+28728T>G (n.1776+28728T>G) c.1553T>G (p.Leu518Arg) c.44T>G (p.Leu15Arg) | |
| 10 | g.26125410T= | CA1897908346 | MYO3A | n.2120T= c.1916T= (p.Leu639=) c.1789T= (p.Phe597=) c.1776+28728T= (n.1776+28728T=) c.1553T= (p.Leu518=) c.44T= (p.Leu15=) | |
| 10 | g.26125411T>A | CA468481518 | MYO3A | n.2121T>A c.1917T>A (p.Leu639=) c.1790T>A (p.Phe597Tyr) c.1776+28729T>A (n.1776+28729T>A) c.1554T>A (p.Leu518=) c.45T>A (p.Leu15=) | |
| 10 | g.26125411T>C | CA468481520 | MYO3A | n.2121T>C c.1917T>C (p.Leu639=) c.1790T>C (p.Phe597Ser) c.1776+28729T>C (n.1776+28729T>C) c.1554T>C (p.Leu518=) c.45T>C (p.Leu15=) | |
| 10 | g.26125411T>G | CA468481519 | MYO3A | n.2121T>G c.1917T>G (p.Leu639=) c.1790T>G (p.Phe597Cys) c.1776+28729T>G (n.1776+28729T>G) c.1554T>G (p.Leu518=) c.45T>G (p.Leu15=) | |
| 10 | g.26125412T>A | CA376341234 | MYO3A | n.2122T>A c.1918T>A (p.Cys640Ser) c.1791T>A (p.Phe597Leu) c.1776+28730T>A (n.1776+28730T>A) c.1555T>A (p.Cys519Ser) c.46T>A (p.Cys16Ser) | |
| 10 | g.26125412T>C | CA376341238 | MYO3A | n.2122T>C c.1918T>C (p.Cys640Arg) c.1791T>C (p.Phe597=) c.1776+28730T>C (n.1776+28730T>C) c.1555T>C (p.Cys519Arg) c.46T>C (p.Cys16Arg) | |
| 10 | g.26125412T>G | CA376341236 | MYO3A | n.2122T>G c.1918T>G (p.Cys640Gly) c.1791T>G (p.Phe597Leu) c.1776+28730T>G (n.1776+28730T>G) c.1555T>G (p.Cys519Gly) c.46T>G (p.Cys16Gly) | gnomAD v4 |
| 10 | g.26125413G>A | CA376341239 | MYO3A | n.2123G>A c.1919G>A (p.Cys640Tyr) c.1792G>A (p.Ala598Thr) c.1776+28731G>A (n.1776+28731G>A) c.1556G>A (p.Cys519Tyr) c.47G>A (p.Cys16Tyr) | |
| 10 | g.26125413G>C | CA376341241 | MYO3A | n.2123G>C c.1919G>C (p.Cys640Ser) c.1792G>C (p.Ala598Pro) c.1776+28731G>C (n.1776+28731G>C) c.1556G>C (p.Cys519Ser) c.47G>C (p.Cys16Ser) | |
| 10 | g.26125413G= | CA1897908347 | MYO3A | n.2123G= c.1919G= (p.Cys640=) c.1792G= (p.Ala598=) c.1776+28731G= (n.1776+28731G=) c.1556G= (p.Cys519=) c.47G= (p.Cys16=) | |
| 10 | g.26125413G>T | CA204386107 | MYO3A | n.2123G>T c.1919G>T (p.Cys640Phe) c.1792G>T (p.Ala598Ser) c.1776+28731G>T (n.1776+28731G>T) c.1556G>T (p.Cys519Phe) c.47G>T (p.Cys16Phe) | dbSNP gnomAD v4 |
| 10 | g.26125414C>A | CA376341243 | MYO3A | n.2124C>A c.1920C>A (p.Cys640Ter) c.1793C>A (p.Ala598Glu) c.1776+28732C>A (n.1776+28732C>A) c.1557C>A (p.Cys519Ter) c.48C>A (p.Cys16Ter) | dbSNP gnomAD v2 |
| 10 | g.26125414C= | CA1897908348 | MYO3A | n.2124C= c.1920C= (p.Cys640=) c.1793C= (p.Ala598=) c.1776+28732C= (n.1776+28732C=) c.1557C= (p.Cys519=) c.48C= (p.Cys16=) | |
| 10 | g.26125414C>G | CA376341245 | MYO3A | n.2124C>G c.1920C>G (p.Cys640Trp) c.1793C>G (p.Ala598Gly) c.1776+28732C>G (n.1776+28732C>G) c.1557C>G (p.Cys519Trp) c.48C>G (p.Cys16Trp) | |
| 10 | g.26125414C>T | CA468481525 | MYO3A | n.2124C>T c.1920C>T (p.Cys640=) c.1793C>T (p.Ala598Val) c.1776+28732C>T (n.1776+28732C>T) c.1557C>T (p.Cys519=) c.48C>T (p.Cys16=) | |
| 10 | g.26125415A= | CA1897908349 | MYO3A | n.2125A= c.1921A= (p.Ile641=) c.1794A= (p.Ala598=) c.1776+28733A= (n.1776+28733A=) c.1558A= (p.Ile520=) c.49A= (p.Ile17=) | |
| 10 | g.26125415A>C | CA376341247 | MYO3A | n.2125A>C c.1921A>C (p.Ile641Leu) c.1794A>C (p.Ala598=) c.1776+28733A>C (n.1776+28733A>C) c.1558A>C (p.Ile520Leu) c.49A>C (p.Ile17Leu) | gnomAD v4 |
| 10 | g.26125415A>G | CA5444820 | MYO3A | n.2125A>G c.1921A>G (p.Ile641Val) c.1794A>G (p.Ala598=) c.1776+28733A>G (n.1776+28733A>G) c.1558A>G (p.Ile520Val) c.49A>G (p.Ile17Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.26125415A>T | CA376341250 | MYO3A | n.2125A>T c.1921A>T (p.Ile641Phe) c.1794A>T (p.Ala598=) c.1776+28733A>T (n.1776+28733A>T) c.1558A>T (p.Ile520Phe) c.49A>T (p.Ile17Phe) | |
| 10 | g.26125416T>A | CA376341252 | MYO3A | n.2126T>A c.1922T>A (p.Ile641Asn) c.1795T>A (p.Phe599Ile) c.1776+28734T>A (n.1776+28734T>A) c.1559T>A (p.Ile520Asn) c.50T>A (p.Ile17Asn) | gnomAD v4 |
| 10 | g.26125416T>C | CA376341253 | MYO3A | n.2126T>C c.1922T>C (p.Ile641Thr) c.1795T>C (p.Phe599Leu) c.1776+28734T>C (n.1776+28734T>C) c.1559T>C (p.Ile520Thr) c.50T>C (p.Ile17Thr) | |
| 10 | g.26125416T>G | CA376341255 | MYO3A | n.2126T>G c.1922T>G (p.Ile641Ser) c.1795T>G (p.Phe599Val) c.1776+28734T>G (n.1776+28734T>G) c.1559T>G (p.Ile520Ser) c.50T>G (p.Ile17Ser) | |
| 10 | g.26125417T>A | CA468481526 | MYO3A | n.2127T>A c.1923T>A (p.Ile641=) c.1796T>A (p.Phe599Tyr) c.1776+28735T>A (n.1776+28735T>A) c.1560T>A (p.Ile520=) c.51T>A (p.Ile17=) | |
| 10 | g.26125417T>C | CA468481527 | MYO3A | n.2127T>C c.1923T>C (p.Ile641=) c.1796T>C (p.Phe599Ser) c.1776+28735T>C (n.1776+28735T>C) c.1560T>C (p.Ile520=) c.51T>C (p.Ile17=) | |
| 10 | g.26125417T>G | CA376341257 | MYO3A | n.2127T>G c.1923T>G (p.Ile641Met) c.1796T>G (p.Phe599Cys) c.1776+28735T>G (n.1776+28735T>G) c.1560T>G (p.Ile520Met) c.51T>G (p.Ile17Met) | |
| 10 | g.26125418C>A | CA5444822 | MYO3A | n.2128C>A c.1924C>A (p.Arg642=) c.1797C>A (p.Phe599Leu) c.1776+28736C>A (n.1776+28736C>A) c.1561C>A (p.Arg521=) c.52C>A (p.Arg18=) | dbSNP ExAC COSMIC |
| 10 | g.26125418C= | CA1897908350 | MYO3A | n.2128C= c.1924C= (p.Arg642=) c.1797C= (p.Phe599=) c.1776+28736C= (n.1776+28736C=) c.1561C= (p.Arg521=) c.52C= (p.Arg18=) | |
| 10 | g.26125418C>G | CA376341262 | MYO3A | n.2128C>G c.1924C>G (p.Arg642Gly) c.1797C>G (p.Phe599Leu) c.1776+28736C>G (n.1776+28736C>G) c.1561C>G (p.Arg521Gly) c.52C>G (p.Arg18Gly) | |
| 10 | g.26125418C>T | CA5444821 | MYO3A | n.2128C>T c.1924C>T (p.Arg642Trp) c.1797C>T (p.Phe599=) c.1776+28736C>T (n.1776+28736C>T) c.1561C>T (p.Arg521Trp) c.52C>T (p.Arg18Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.26125419G>A | CA5444823 | MYO3A | n.2129G>A c.1925G>A (p.Arg642Gln) c.1798G>A (p.Gly600Arg) c.1776+28737G>A (n.1776+28737G>A) c.1562G>A (p.Arg521Gln) c.53G>A (p.Arg18Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.26125419G>C | CA376341267 | MYO3A | n.2129G>C c.1925G>C (p.Arg642Pro) c.1798G>C (p.Gly600Arg) c.1776+28737G>C (n.1776+28737G>C) c.1562G>C (p.Arg521Pro) c.53G>C (p.Arg18Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.26125419G= | CA1897908351 | MYO3A | n.2129G= c.1925G= (p.Arg642=) c.1798G= (p.Gly600=) c.1776+28737G= (n.1776+28737G=) c.1562G= (p.Arg521=) c.53G= (p.Arg18=) | |
| 10 | g.26125419G>T | CA376341268 | MYO3A | n.2129G>T c.1925G>T (p.Arg642Leu) c.1798G>T (p.Gly600Trp) c.1776+28737G>T (n.1776+28737G>T) c.1562G>T (p.Arg521Leu) c.53G>T (p.Arg18Leu) | |
| 10 | g.26125420G>A | CA468481531 | MYO3A | n.2130G>A c.1926G>A (p.Arg642=) c.1799G>A (p.Gly600Glu) c.1776+28738G>A (n.1776+28738G>A) c.1563G>A (p.Arg521=) c.54G>A (p.Arg18=) | |
| 10 | g.26125420G>C | CA468481533 | MYO3A | n.2130G>C c.1926G>C (p.Arg642=) c.1799G>C (p.Gly600Ala) c.1776+28738G>C (n.1776+28738G>C) c.1563G>C (p.Arg521=) c.54G>C (p.Arg18=) | |
| 10 | g.26125420G= | CA1897908352 | MYO3A | n.2130G= c.1926G= (p.Arg642=) c.1799G= (p.Gly600=) c.1776+28738G= (n.1776+28738G=) c.1563G= (p.Arg521=) c.54G= (p.Arg18=) | |
| 10 | g.26125420G>T | CA468481535 | MYO3A | n.2130G>T c.1926G>T (p.Arg642=) c.1799G>T (p.Gly600Val) c.1776+28738G>T (n.1776+28738G>T) c.1563G>T (p.Arg521=) c.54G>T (p.Arg18=) | dbSNP gnomAD v4 |
| 10 | g.26125421G>A | CA376341270 | MYO3A | n.2131G>A c.1927G>A (p.Ala643Thr) c.1800G>A (p.Gly600=) c.1776+28739G>A (n.1776+28739G>A) c.1564G>A (p.Ala522Thr) c.55G>A (p.Ala19Thr) | gnomAD v4 |
| 10 | g.26125421G>C | CA376341272 | MYO3A | n.2131G>C c.1927G>C (p.Ala643Pro) c.1800G>C (p.Gly600=) c.1776+28739G>C (n.1776+28739G>C) c.1564G>C (p.Ala522Pro) c.55G>C (p.Ala19Pro) | |
| 10 | g.26125421G>T | CA376341273 | MYO3A | n.2131G>T c.1927G>T (p.Ala643Ser) c.1800G>T (p.Gly600=) c.1776+28739G>T (n.1776+28739G>T) c.1564G>T (p.Ala522Ser) c.55G>T (p.Ala19Ser) | COSMIC |
| 10 | g.26125422C>A | CA376341276 | MYO3A | n.2132C>A c.1928C>A (p.Ala643Glu) c.1801C>A (p.Gln601Lys) c.1776+28740C>A (n.1776+28740C>A) c.1565C>A (p.Ala522Glu) c.56C>A (p.Ala19Glu) | |
| 10 | g.26125422C>G | CA376341277 | MYO3A | n.2132C>G c.1928C>G (p.Ala643Gly) c.1801C>G (p.Gln601Glu) c.1776+28740C>G (n.1776+28740C>G) c.1565C>G (p.Ala522Gly) c.56C>G (p.Ala19Gly) | |
| 10 | g.26125422C>T | CA376341279 | MYO3A | n.2132C>T c.1928C>T (p.Ala643Val) c.1801C>T (p.Gln601Ter) c.1776+28740C>T (n.1776+28740C>T) c.1565C>T (p.Ala522Val) c.56C>T (p.Ala19Val) | gnomAD v4 |
| 10 | g.26125423A= | CA1897908353 | MYO3A | n.2133A= c.1929A= (p.Ala643=) c.1802A= (p.Gln601=) c.1776+28741A= (n.1776+28741A=) c.1566A= (p.Ala522=) c.57A= (p.Ala19=) | |
| 10 | g.26125423A>C | CA468481537 | MYO3A | n.2133A>C c.1929A>C (p.Ala643=) c.1802A>C (p.Gln601Pro) c.1776+28741A>C (n.1776+28741A>C) c.1566A>C (p.Ala522=) c.57A>C (p.Ala19=) | |
| 10 | g.26125423A>G | CA5444824 | MYO3A | n.2133A>G c.1929A>G (p.Ala643=) c.1802A>G (p.Gln601Arg) c.1776+28741A>G (n.1776+28741A>G) c.1566A>G (p.Ala522=) c.57A>G (p.Ala19=) | dbSNP ExAC gnomAD v2 gnomAD v4 |