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 |
|---|---|---|---|---|---|
| 20 | g.63408413_63408444delinsCTGCTTCTCCACCTTCCCGAGCCGTCCCATCA | CA2374775193 | KCNQ2 | c.1910_1941delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met637=) c.1856_1887delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met619=) n.41_72delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG c.1253_1284delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met418=) n.12_43delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG c.1763_1794delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met588=) c.1424_1455delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met475=) c.1772_1803delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met591=) c.1880_1911delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met627=) c.1844_1875delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met615=) c.1802_1833delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met601=) c.1679+5006_1679+5037delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (n.1679+5006_1679+5037delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG) c.1898_1929delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met633=) c.1964_1995delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met655=) c.1961_1992delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met654=) c.1934_1965delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met645=) c.1853_1884delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met618=) c.1838_1869delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met613=) c.1445_1476delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met482=) c.1907_1938delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met636=) c.1841_1872delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met614=) c.1799_1830delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met600=) c.872_903delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met291=) | |
| 20 | g.63408418_63408448del | CA10654778 | KCNQ2 | c.1910_1940del (p.Met637ArgfsTer13) c.1856_1886del (p.Met619ArgfsTer13) n.41_71del c.1253_1283del (p.Met418ArgfsTer13) n.12_42del c.1763_1793del (p.Met588ArgfsTer13) c.1424_1454del (p.Met475ArgfsTer13) c.1772_1802del (p.Met591ArgfsTer13) c.1880_1910del (p.Met627ArgfsTer13) c.1844_1874del (p.Met615ArgfsTer13) c.1802_1832del (p.Met601ArgfsTer13) c.1679+5006_1679+5036del (n.1679+5006_1679+5036del) c.1898_1928del (p.Met633ArgfsTer13) c.1964_1994del (p.Met655ArgfsTer13) c.1961_1991del (p.Met654ArgfsTer13) c.1934_1964del (p.Met645ArgfsTer13) c.1853_1883del (p.Met618ArgfsTer13) c.1838_1868del (p.Met613ArgfsTer13) c.1445_1475del (p.Met482ArgfsTer13) c.1964_1994del (p.Met655ArgfsTer21) c.1907_1937del (p.Met636ArgfsTer13) c.1841_1871del (p.Met614ArgfsTer13) c.1799_1829del (p.Met600ArgfsTer13) c.872_902del (p.Met291ArgfsTer13) | ClinVar dbSNP |
| 20 | g.63408438C>A | CA409640245 | KCNQ2 | c.1916G>T (p.Gly639Val) c.1862G>T (p.Gly621Val) n.47G>T c.1259G>T (p.Gly420Val) n.18G>T c.1769G>T (p.Gly590Val) c.1430G>T (p.Gly477Val) c.1778G>T (p.Gly593Val) c.1886G>T (p.Gly629Val) c.1850G>T (p.Gly617Val) c.1808G>T (p.Gly603Val) c.1679+5012G>T (n.1679+5012G>T) c.1904G>T (p.Gly635Val) c.1970G>T (p.Gly657Val) c.1967G>T (p.Gly656Val) c.1940G>T (p.Gly647Val) c.1859G>T (p.Gly620Val) c.1844G>T (p.Gly615Val) c.1451G>T (p.Gly484Val) c.1913G>T (p.Gly638Val) c.1847G>T (p.Gly616Val) c.1805G>T (p.Gly602Val) c.878G>T (p.Gly293Val) | ClinVar dbSNP |
| 20 | g.63408438C>G | CA409640246 | KCNQ2 | c.1916G>C (p.Gly639Ala) c.1862G>C (p.Gly621Ala) n.47G>C c.1259G>C (p.Gly420Ala) n.18G>C c.1769G>C (p.Gly590Ala) c.1430G>C (p.Gly477Ala) c.1778G>C (p.Gly593Ala) c.1886G>C (p.Gly629Ala) c.1850G>C (p.Gly617Ala) c.1808G>C (p.Gly603Ala) c.1679+5012G>C (n.1679+5012G>C) c.1904G>C (p.Gly635Ala) c.1970G>C (p.Gly657Ala) c.1967G>C (p.Gly656Ala) c.1940G>C (p.Gly647Ala) c.1859G>C (p.Gly620Ala) c.1844G>C (p.Gly615Ala) c.1451G>C (p.Gly484Ala) c.1913G>C (p.Gly638Ala) c.1847G>C (p.Gly616Ala) c.1805G>C (p.Gly602Ala) c.878G>C (p.Gly293Ala) | |
| 20 | g.63408438C>T | CA409640247 | KCNQ2 | c.1916G>A (p.Gly639Glu) c.1862G>A (p.Gly621Glu) n.47G>A c.1259G>A (p.Gly420Glu) n.18G>A c.1769G>A (p.Gly590Glu) c.1430G>A (p.Gly477Glu) c.1778G>A (p.Gly593Glu) c.1886G>A (p.Gly629Glu) c.1850G>A (p.Gly617Glu) c.1808G>A (p.Gly603Glu) c.1679+5012G>A (n.1679+5012G>A) c.1904G>A (p.Gly635Glu) c.1970G>A (p.Gly657Glu) c.1967G>A (p.Gly656Glu) c.1940G>A (p.Gly647Glu) c.1859G>A (p.Gly620Glu) c.1844G>A (p.Gly615Glu) c.1451G>A (p.Gly484Glu) c.1913G>A (p.Gly638Glu) c.1847G>A (p.Gly616Glu) c.1805G>A (p.Gly602Glu) c.878G>A (p.Gly293Glu) | COSMIC COSMIC COSMIC |
| 20 | g.63408439C>A | CA409640248 | KCNQ2 | c.1915G>T (p.Gly639Ter) c.1861G>T (p.Gly621Ter) n.46G>T c.1258G>T (p.Gly420Ter) n.17G>T c.1768G>T (p.Gly590Ter) c.1429G>T (p.Gly477Ter) c.1777G>T (p.Gly593Ter) c.1885G>T (p.Gly629Ter) c.1849G>T (p.Gly617Ter) c.1807G>T (p.Gly603Ter) c.1679+5011G>T (n.1679+5011G>T) c.1903G>T (p.Gly635Ter) c.1969G>T (p.Gly657Ter) c.1966G>T (p.Gly656Ter) c.1939G>T (p.Gly647Ter) c.1858G>T (p.Gly620Ter) c.1843G>T (p.Gly615Ter) c.1450G>T (p.Gly484Ter) c.1912G>T (p.Gly638Ter) c.1846G>T (p.Gly616Ter) c.1804G>T (p.Gly602Ter) c.877G>T (p.Gly293Ter) | gnomAD v4 |
| 20 | g.63408439C>G | CA409640249 | KCNQ2 | c.1915G>C (p.Gly639Arg) c.1861G>C (p.Gly621Arg) n.46G>C c.1258G>C (p.Gly420Arg) n.17G>C c.1768G>C (p.Gly590Arg) c.1429G>C (p.Gly477Arg) c.1777G>C (p.Gly593Arg) c.1885G>C (p.Gly629Arg) c.1849G>C (p.Gly617Arg) c.1807G>C (p.Gly603Arg) c.1679+5011G>C (n.1679+5011G>C) c.1903G>C (p.Gly635Arg) c.1969G>C (p.Gly657Arg) c.1966G>C (p.Gly656Arg) c.1939G>C (p.Gly647Arg) c.1858G>C (p.Gly620Arg) c.1843G>C (p.Gly615Arg) c.1450G>C (p.Gly484Arg) c.1912G>C (p.Gly638Arg) c.1846G>C (p.Gly616Arg) c.1804G>C (p.Gly602Arg) c.877G>C (p.Gly293Arg) | |
| 20 | g.63408439C>T | CA409640250 | KCNQ2 | c.1915G>A (p.Gly639Arg) c.1861G>A (p.Gly621Arg) n.46G>A c.1258G>A (p.Gly420Arg) n.17G>A c.1768G>A (p.Gly590Arg) c.1429G>A (p.Gly477Arg) c.1777G>A (p.Gly593Arg) c.1885G>A (p.Gly629Arg) c.1849G>A (p.Gly617Arg) c.1807G>A (p.Gly603Arg) c.1679+5011G>A (n.1679+5011G>A) c.1903G>A (p.Gly635Arg) c.1969G>A (p.Gly657Arg) c.1966G>A (p.Gly656Arg) c.1939G>A (p.Gly647Arg) c.1858G>A (p.Gly620Arg) c.1843G>A (p.Gly615Arg) c.1450G>A (p.Gly484Arg) c.1912G>A (p.Gly638Arg) c.1846G>A (p.Gly616Arg) c.1804G>A (p.Gly602Arg) c.877G>A (p.Gly293Arg) | |
| 20 | g.63408440C>A | CA317423658 | KCNQ2 | c.1914G>T (p.Met638Ile) c.1860G>T (p.Met620Ile) n.45G>T c.1257G>T (p.Met419Ile) n.16G>T c.1767G>T (p.Met589Ile) c.1428G>T (p.Met476Ile) c.1776G>T (p.Met592Ile) c.1884G>T (p.Met628Ile) c.1848G>T (p.Met616Ile) c.1806G>T (p.Met602Ile) c.1679+5010G>T (n.1679+5010G>T) c.1902G>T (p.Met634Ile) c.1968G>T (p.Met656Ile) c.1965G>T (p.Met655Ile) c.1938G>T (p.Met646Ile) c.1857G>T (p.Met619Ile) c.1842G>T (p.Met614Ile) c.1449G>T (p.Met483Ile) c.1911G>T (p.Met637Ile) c.1845G>T (p.Met615Ile) c.1803G>T (p.Met601Ile) c.876G>T (p.Met292Ile) | dbSNP gnomAD v4 |
| 20 | g.63408440C= | CA2374775202 | KCNQ2 | c.1914G= (p.Met638=) c.1860G= (p.Met620=) n.45G= c.1257G= (p.Met419=) n.16G= c.1767G= (p.Met589=) c.1428G= (p.Met476=) c.1776G= (p.Met592=) c.1884G= (p.Met628=) c.1848G= (p.Met616=) c.1806G= (p.Met602=) c.1679+5010G= (n.1679+5010G=) c.1902G= (p.Met634=) c.1968G= (p.Met656=) c.1965G= (p.Met655=) c.1938G= (p.Met646=) c.1857G= (p.Met619=) c.1842G= (p.Met614=) c.1449G= (p.Met483=) c.1911G= (p.Met637=) c.1845G= (p.Met615=) c.1803G= (p.Met601=) c.876G= (p.Met292=) | |
| 20 | g.63408440C>G | CA409640251 | KCNQ2 | c.1914G>C (p.Met638Ile) c.1860G>C (p.Met620Ile) n.45G>C c.1257G>C (p.Met419Ile) n.16G>C c.1767G>C (p.Met589Ile) c.1428G>C (p.Met476Ile) c.1776G>C (p.Met592Ile) c.1884G>C (p.Met628Ile) c.1848G>C (p.Met616Ile) c.1806G>C (p.Met602Ile) c.1679+5010G>C (n.1679+5010G>C) c.1902G>C (p.Met634Ile) c.1968G>C (p.Met656Ile) c.1965G>C (p.Met655Ile) c.1938G>C (p.Met646Ile) c.1857G>C (p.Met619Ile) c.1842G>C (p.Met614Ile) c.1449G>C (p.Met483Ile) c.1911G>C (p.Met637Ile) c.1845G>C (p.Met615Ile) c.1803G>C (p.Met601Ile) c.876G>C (p.Met292Ile) | |
| 20 | g.63408440C>T | CA409640252 | KCNQ2 | c.1914G>A (p.Met638Ile) c.1860G>A (p.Met620Ile) n.45G>A c.1257G>A (p.Met419Ile) n.16G>A c.1767G>A (p.Met589Ile) c.1428G>A (p.Met476Ile) c.1776G>A (p.Met592Ile) c.1884G>A (p.Met628Ile) c.1848G>A (p.Met616Ile) c.1806G>A (p.Met602Ile) c.1679+5010G>A (n.1679+5010G>A) c.1902G>A (p.Met634Ile) c.1968G>A (p.Met656Ile) c.1965G>A (p.Met655Ile) c.1938G>A (p.Met646Ile) c.1857G>A (p.Met619Ile) c.1842G>A (p.Met614Ile) c.1449G>A (p.Met483Ile) c.1911G>A (p.Met637Ile) c.1845G>A (p.Met615Ile) c.1803G>A (p.Met601Ile) c.876G>A (p.Met292Ile) | |
| 20 | g.63408441A>C | CA409640255 | KCNQ2 | c.1913T>G (p.Met638Arg) c.1859T>G (p.Met620Arg) n.44T>G c.1256T>G (p.Met419Arg) n.15T>G c.1766T>G (p.Met589Arg) c.1427T>G (p.Met476Arg) c.1775T>G (p.Met592Arg) c.1883T>G (p.Met628Arg) c.1847T>G (p.Met616Arg) c.1805T>G (p.Met602Arg) c.1679+5009T>G (n.1679+5009T>G) c.1901T>G (p.Met634Arg) c.1967T>G (p.Met656Arg) c.1964T>G (p.Met655Arg) c.1937T>G (p.Met646Arg) c.1856T>G (p.Met619Arg) c.1841T>G (p.Met614Arg) c.1448T>G (p.Met483Arg) c.1910T>G (p.Met637Arg) c.1844T>G (p.Met615Arg) c.1802T>G (p.Met601Arg) c.875T>G (p.Met292Arg) | |
| 20 | g.63408441A>G | CA409640254 | KCNQ2 | c.1913T>C (p.Met638Thr) c.1859T>C (p.Met620Thr) n.44T>C c.1256T>C (p.Met419Thr) n.15T>C c.1766T>C (p.Met589Thr) c.1427T>C (p.Met476Thr) c.1775T>C (p.Met592Thr) c.1883T>C (p.Met628Thr) c.1847T>C (p.Met616Thr) c.1805T>C (p.Met602Thr) c.1679+5009T>C (n.1679+5009T>C) c.1901T>C (p.Met634Thr) c.1967T>C (p.Met656Thr) c.1964T>C (p.Met655Thr) c.1937T>C (p.Met646Thr) c.1856T>C (p.Met619Thr) c.1841T>C (p.Met614Thr) c.1448T>C (p.Met483Thr) c.1910T>C (p.Met637Thr) c.1844T>C (p.Met615Thr) c.1802T>C (p.Met601Thr) c.875T>C (p.Met292Thr) | |
| 20 | g.63408441A>T | CA409640253 | KCNQ2 | c.1913T>A (p.Met638Lys) c.1859T>A (p.Met620Lys) n.44T>A c.1256T>A (p.Met419Lys) n.15T>A c.1766T>A (p.Met589Lys) c.1427T>A (p.Met476Lys) c.1775T>A (p.Met592Lys) c.1883T>A (p.Met628Lys) c.1847T>A (p.Met616Lys) c.1805T>A (p.Met602Lys) c.1679+5009T>A (n.1679+5009T>A) c.1901T>A (p.Met634Lys) c.1967T>A (p.Met656Lys) c.1964T>A (p.Met655Lys) c.1937T>A (p.Met646Lys) c.1856T>A (p.Met619Lys) c.1841T>A (p.Met614Lys) c.1448T>A (p.Met483Lys) c.1910T>A (p.Met637Lys) c.1844T>A (p.Met615Lys) c.1802T>A (p.Met601Lys) c.875T>A (p.Met292Lys) | |
| 20 | g.63408442T>A | CA409640256 | KCNQ2 | c.1912A>T (p.Met638Leu) c.1858A>T (p.Met620Leu) n.43A>T c.1255A>T (p.Met419Leu) n.14A>T c.1765A>T (p.Met589Leu) c.1426A>T (p.Met476Leu) c.1774A>T (p.Met592Leu) c.1882A>T (p.Met628Leu) c.1846A>T (p.Met616Leu) c.1804A>T (p.Met602Leu) c.1679+5008A>T (n.1679+5008A>T) c.1900A>T (p.Met634Leu) c.1966A>T (p.Met656Leu) c.1963A>T (p.Met655Leu) c.1936A>T (p.Met646Leu) c.1855A>T (p.Met619Leu) c.1840A>T (p.Met614Leu) c.1447A>T (p.Met483Leu) c.1909A>T (p.Met637Leu) c.1843A>T (p.Met615Leu) c.1801A>T (p.Met601Leu) c.874A>T (p.Met292Leu) | |
| 20 | g.63408442T>C | CA409640258 | KCNQ2 | c.1912A>G (p.Met638Val) c.1858A>G (p.Met620Val) n.43A>G c.1255A>G (p.Met419Val) n.14A>G c.1765A>G (p.Met589Val) c.1426A>G (p.Met476Val) c.1774A>G (p.Met592Val) c.1882A>G (p.Met628Val) c.1846A>G (p.Met616Val) c.1804A>G (p.Met602Val) c.1679+5008A>G (n.1679+5008A>G) c.1900A>G (p.Met634Val) c.1966A>G (p.Met656Val) c.1963A>G (p.Met655Val) c.1936A>G (p.Met646Val) c.1855A>G (p.Met619Val) c.1840A>G (p.Met614Val) c.1447A>G (p.Met483Val) c.1909A>G (p.Met637Val) c.1843A>G (p.Met615Val) c.1801A>G (p.Met601Val) c.874A>G (p.Met292Val) | gnomAD v4 |
| 20 | g.63408442T>G | CA409640257 | KCNQ2 | c.1912A>C (p.Met638Leu) c.1858A>C (p.Met620Leu) n.43A>C c.1255A>C (p.Met419Leu) n.14A>C c.1765A>C (p.Met589Leu) c.1426A>C (p.Met476Leu) c.1774A>C (p.Met592Leu) c.1882A>C (p.Met628Leu) c.1846A>C (p.Met616Leu) c.1804A>C (p.Met602Leu) c.1679+5008A>C (n.1679+5008A>C) c.1900A>C (p.Met634Leu) c.1966A>C (p.Met656Leu) c.1963A>C (p.Met655Leu) c.1936A>C (p.Met646Leu) c.1855A>C (p.Met619Leu) c.1840A>C (p.Met614Leu) c.1447A>C (p.Met483Leu) c.1909A>C (p.Met637Leu) c.1843A>C (p.Met615Leu) c.1801A>C (p.Met601Leu) c.874A>C (p.Met292Leu) | |
| 20 | g.63408443C>A | CA409640259 | KCNQ2 | c.1911G>T (p.Met637Ile) c.1857G>T (p.Met619Ile) n.42G>T c.1254G>T (p.Met418Ile) n.13G>T c.1764G>T (p.Met588Ile) c.1425G>T (p.Met475Ile) c.1773G>T (p.Met591Ile) c.1881G>T (p.Met627Ile) c.1845G>T (p.Met615Ile) c.1803G>T (p.Met601Ile) c.1679+5007G>T (n.1679+5007G>T) c.1899G>T (p.Met633Ile) c.1965G>T (p.Met655Ile) c.1962G>T (p.Met654Ile) c.1935G>T (p.Met645Ile) c.1854G>T (p.Met618Ile) c.1839G>T (p.Met613Ile) c.1446G>T (p.Met482Ile) c.1908G>T (p.Met636Ile) c.1842G>T (p.Met614Ile) c.1800G>T (p.Met600Ile) c.873G>T (p.Met291Ile) | gnomAD v4 |
| 20 | g.63408443C= | CA2374775203 | KCNQ2 | c.1911G= (p.Met637=) c.1857G= (p.Met619=) n.42G= c.1254G= (p.Met418=) n.13G= c.1764G= (p.Met588=) c.1425G= (p.Met475=) c.1773G= (p.Met591=) c.1881G= (p.Met627=) c.1845G= (p.Met615=) c.1803G= (p.Met601=) c.1679+5007G= (n.1679+5007G=) c.1899G= (p.Met633=) c.1965G= (p.Met655=) c.1962G= (p.Met654=) c.1935G= (p.Met645=) c.1854G= (p.Met618=) c.1839G= (p.Met613=) c.1446G= (p.Met482=) c.1908G= (p.Met636=) c.1842G= (p.Met614=) c.1800G= (p.Met600=) c.873G= (p.Met291=) | |
| 20 | g.63408443C>G | CA409640260 | KCNQ2 | c.1911G>C (p.Met637Ile) c.1857G>C (p.Met619Ile) n.42G>C c.1254G>C (p.Met418Ile) n.13G>C c.1764G>C (p.Met588Ile) c.1425G>C (p.Met475Ile) c.1773G>C (p.Met591Ile) c.1881G>C (p.Met627Ile) c.1845G>C (p.Met615Ile) c.1803G>C (p.Met601Ile) c.1679+5007G>C (n.1679+5007G>C) c.1899G>C (p.Met633Ile) c.1965G>C (p.Met655Ile) c.1962G>C (p.Met654Ile) c.1935G>C (p.Met645Ile) c.1854G>C (p.Met618Ile) c.1839G>C (p.Met613Ile) c.1446G>C (p.Met482Ile) c.1908G>C (p.Met636Ile) c.1842G>C (p.Met614Ile) c.1800G>C (p.Met600Ile) c.873G>C (p.Met291Ile) | |
| 20 | g.63408443C>T | CA317423663 | KCNQ2 | c.1911G>A (p.Met637Ile) c.1857G>A (p.Met619Ile) n.42G>A c.1254G>A (p.Met418Ile) n.13G>A c.1764G>A (p.Met588Ile) c.1425G>A (p.Met475Ile) c.1773G>A (p.Met591Ile) c.1881G>A (p.Met627Ile) c.1845G>A (p.Met615Ile) c.1803G>A (p.Met601Ile) c.1679+5007G>A (n.1679+5007G>A) c.1899G>A (p.Met633Ile) c.1965G>A (p.Met655Ile) c.1962G>A (p.Met654Ile) c.1935G>A (p.Met645Ile) c.1854G>A (p.Met618Ile) c.1839G>A (p.Met613Ile) c.1446G>A (p.Met482Ile) c.1908G>A (p.Met636Ile) c.1842G>A (p.Met614Ile) c.1800G>A (p.Met600Ile) c.873G>A (p.Met291Ile) | dbSNP |
| 20 | g.63408444A>C | CA409640261 | KCNQ2 | c.1910T>G (p.Met637Arg) c.1856T>G (p.Met619Arg) n.41T>G c.1253T>G (p.Met418Arg) n.12T>G c.1763T>G (p.Met588Arg) c.1424T>G (p.Met475Arg) c.1772T>G (p.Met591Arg) c.1880T>G (p.Met627Arg) c.1844T>G (p.Met615Arg) c.1802T>G (p.Met601Arg) c.1679+5006T>G (n.1679+5006T>G) c.1898T>G (p.Met633Arg) c.1964T>G (p.Met655Arg) c.1961T>G (p.Met654Arg) c.1934T>G (p.Met645Arg) c.1853T>G (p.Met618Arg) c.1838T>G (p.Met613Arg) c.1445T>G (p.Met482Arg) c.1907T>G (p.Met636Arg) c.1841T>G (p.Met614Arg) c.1799T>G (p.Met600Arg) c.872T>G (p.Met291Arg) | gnomAD v4 |
| 20 | g.63408444A>G | CA409640263 | KCNQ2 | c.1910T>C (p.Met637Thr) c.1856T>C (p.Met619Thr) n.41T>C c.1253T>C (p.Met418Thr) n.12T>C c.1763T>C (p.Met588Thr) c.1424T>C (p.Met475Thr) c.1772T>C (p.Met591Thr) c.1880T>C (p.Met627Thr) c.1844T>C (p.Met615Thr) c.1802T>C (p.Met601Thr) c.1679+5006T>C (n.1679+5006T>C) c.1898T>C (p.Met633Thr) c.1964T>C (p.Met655Thr) c.1961T>C (p.Met654Thr) c.1934T>C (p.Met645Thr) c.1853T>C (p.Met618Thr) c.1838T>C (p.Met613Thr) c.1445T>C (p.Met482Thr) c.1907T>C (p.Met636Thr) c.1841T>C (p.Met614Thr) c.1799T>C (p.Met600Thr) c.872T>C (p.Met291Thr) | |
| 20 | g.63408444A>T | CA409640262 | KCNQ2 | c.1910T>A (p.Met637Lys) c.1856T>A (p.Met619Lys) n.41T>A c.1253T>A (p.Met418Lys) n.12T>A c.1763T>A (p.Met588Lys) c.1424T>A (p.Met475Lys) c.1772T>A (p.Met591Lys) c.1880T>A (p.Met627Lys) c.1844T>A (p.Met615Lys) c.1802T>A (p.Met601Lys) c.1679+5006T>A (n.1679+5006T>A) c.1898T>A (p.Met633Lys) c.1964T>A (p.Met655Lys) c.1961T>A (p.Met654Lys) c.1934T>A (p.Met645Lys) c.1853T>A (p.Met618Lys) c.1838T>A (p.Met613Lys) c.1445T>A (p.Met482Lys) c.1907T>A (p.Met636Lys) c.1841T>A (p.Met614Lys) c.1799T>A (p.Met600Lys) c.872T>A (p.Met291Lys) | |
| 20 | g.63408445T>A | CA409640264 | KCNQ2 | c.1909A>T (p.Met637Leu) c.1855A>T (p.Met619Leu) n.40A>T c.1252A>T (p.Met418Leu) n.11A>T c.1762A>T (p.Met588Leu) c.1423A>T (p.Met475Leu) c.1771A>T (p.Met591Leu) c.1879A>T (p.Met627Leu) c.1843A>T (p.Met615Leu) c.1801A>T (p.Met601Leu) c.1679+5005A>T (n.1679+5005A>T) c.1897A>T (p.Met633Leu) c.1963A>T (p.Met655Leu) c.1960A>T (p.Met654Leu) c.1933A>T (p.Met645Leu) c.1852A>T (p.Met618Leu) c.1837A>T (p.Met613Leu) c.1444A>T (p.Met482Leu) c.1906A>T (p.Met636Leu) c.1840A>T (p.Met614Leu) c.1798A>T (p.Met600Leu) c.871A>T (p.Met291Leu) | |
| 20 | g.63408445T>C | CA409640265 | KCNQ2 | c.1909A>G (p.Met637Val) c.1855A>G (p.Met619Val) n.40A>G c.1252A>G (p.Met418Val) n.11A>G c.1762A>G (p.Met588Val) c.1423A>G (p.Met475Val) c.1771A>G (p.Met591Val) c.1879A>G (p.Met627Val) c.1843A>G (p.Met615Val) c.1801A>G (p.Met601Val) c.1679+5005A>G (n.1679+5005A>G) c.1897A>G (p.Met633Val) c.1963A>G (p.Met655Val) c.1960A>G (p.Met654Val) c.1933A>G (p.Met645Val) c.1852A>G (p.Met618Val) c.1837A>G (p.Met613Val) c.1444A>G (p.Met482Val) c.1906A>G (p.Met636Val) c.1840A>G (p.Met614Val) c.1798A>G (p.Met600Val) c.871A>G (p.Met291Val) | gnomAD v4 |
| 20 | g.63408445T>G | CA409640266 | KCNQ2 | c.1909A>C (p.Met637Leu) c.1855A>C (p.Met619Leu) n.40A>C c.1252A>C (p.Met418Leu) n.11A>C c.1762A>C (p.Met588Leu) c.1423A>C (p.Met475Leu) c.1771A>C (p.Met591Leu) c.1879A>C (p.Met627Leu) c.1843A>C (p.Met615Leu) c.1801A>C (p.Met601Leu) c.1679+5005A>C (n.1679+5005A>C) c.1897A>C (p.Met633Leu) c.1963A>C (p.Met655Leu) c.1960A>C (p.Met654Leu) c.1933A>C (p.Met645Leu) c.1852A>C (p.Met618Leu) c.1837A>C (p.Met613Leu) c.1444A>C (p.Met482Leu) c.1906A>C (p.Met636Leu) c.1840A>C (p.Met614Leu) c.1798A>C (p.Met600Leu) c.871A>C (p.Met291Leu) | dbSNP |
| 20 | g.63408445T= | CA2374775204 | KCNQ2 | c.1909A= (p.Met637=) c.1855A= (p.Met619=) n.40A= c.1252A= (p.Met418=) n.11A= c.1762A= (p.Met588=) c.1423A= (p.Met475=) c.1771A= (p.Met591=) c.1879A= (p.Met627=) c.1843A= (p.Met615=) c.1801A= (p.Met601=) c.1679+5005A= (n.1679+5005A=) c.1897A= (p.Met633=) c.1963A= (p.Met655=) c.1960A= (p.Met654=) c.1933A= (p.Met645=) c.1852A= (p.Met618=) c.1837A= (p.Met613=) c.1444A= (p.Met482=) c.1906A= (p.Met636=) c.1840A= (p.Met614=) c.1798A= (p.Met600=) c.871A= (p.Met291=) | |
| 20 | g.63408446G>A | CA511203544 | KCNQ2 | c.1908C>T (p.Ser636=) c.1854C>T (p.Ser618=) n.39C>T c.1251C>T (p.Ser417=) n.10C>T c.1761C>T (p.Ser587=) c.1422C>T (p.Ser474=) c.1770C>T (p.Ser590=) c.1878C>T (p.Ser626=) c.1842C>T (p.Ser614=) c.1800C>T (p.Ser600=) c.1679+5004C>T (n.1679+5004C>T) c.1896C>T (p.Ser632=) c.1962C>T (p.Ser654=) c.1959C>T (p.Ser653=) c.1932C>T (p.Ser644=) c.1851C>T (p.Ser617=) c.1836C>T (p.Ser612=) c.1443C>T (p.Ser481=) c.1905C>T (p.Ser635=) c.1839C>T (p.Ser613=) c.1797C>T (p.Ser599=) c.870C>T (p.Ser290=) | |
| 20 | g.63408446G>C | CA409640267 | KCNQ2 | c.1908C>G (p.Ser636Arg) c.1854C>G (p.Ser618Arg) n.39C>G c.1251C>G (p.Ser417Arg) n.10C>G c.1761C>G (p.Ser587Arg) c.1422C>G (p.Ser474Arg) c.1770C>G (p.Ser590Arg) c.1878C>G (p.Ser626Arg) c.1842C>G (p.Ser614Arg) c.1800C>G (p.Ser600Arg) c.1679+5004C>G (n.1679+5004C>G) c.1896C>G (p.Ser632Arg) c.1962C>G (p.Ser654Arg) c.1959C>G (p.Ser653Arg) c.1932C>G (p.Ser644Arg) c.1851C>G (p.Ser617Arg) c.1836C>G (p.Ser612Arg) c.1443C>G (p.Ser481Arg) c.1905C>G (p.Ser635Arg) c.1839C>G (p.Ser613Arg) c.1797C>G (p.Ser599Arg) c.870C>G (p.Ser290Arg) | |
| 20 | g.63408446G>T | CA409640268 | KCNQ2 | c.1908C>A (p.Ser636Arg) c.1854C>A (p.Ser618Arg) n.39C>A c.1251C>A (p.Ser417Arg) n.10C>A c.1761C>A (p.Ser587Arg) c.1422C>A (p.Ser474Arg) c.1770C>A (p.Ser590Arg) c.1878C>A (p.Ser626Arg) c.1842C>A (p.Ser614Arg) c.1800C>A (p.Ser600Arg) c.1679+5004C>A (n.1679+5004C>A) c.1896C>A (p.Ser632Arg) c.1962C>A (p.Ser654Arg) c.1959C>A (p.Ser653Arg) c.1932C>A (p.Ser644Arg) c.1851C>A (p.Ser617Arg) c.1836C>A (p.Ser612Arg) c.1443C>A (p.Ser481Arg) c.1905C>A (p.Ser635Arg) c.1839C>A (p.Ser613Arg) c.1797C>A (p.Ser599Arg) c.870C>A (p.Ser290Arg) | |
| 20 | g.63408447C>A | CA409640269 | KCNQ2 | c.1907G>T (p.Ser636Ile) c.1853G>T (p.Ser618Ile) n.38G>T c.1250G>T (p.Ser417Ile) n.9G>T c.1760G>T (p.Ser587Ile) c.1421G>T (p.Ser474Ile) c.1769G>T (p.Ser590Ile) c.1877G>T (p.Ser626Ile) c.1841G>T (p.Ser614Ile) c.1799G>T (p.Ser600Ile) c.1679+5003G>T (n.1679+5003G>T) c.1895G>T (p.Ser632Ile) c.1961G>T (p.Ser654Ile) c.1958G>T (p.Ser653Ile) c.1931G>T (p.Ser644Ile) c.1850G>T (p.Ser617Ile) c.1835G>T (p.Ser612Ile) c.1442G>T (p.Ser481Ile) c.1904G>T (p.Ser635Ile) c.1838G>T (p.Ser613Ile) c.1796G>T (p.Ser599Ile) c.869G>T (p.Ser290Ile) | |
| 20 | g.63408447C>G | CA409640270 | KCNQ2 | c.1907G>C (p.Ser636Thr) c.1853G>C (p.Ser618Thr) n.38G>C c.1250G>C (p.Ser417Thr) n.9G>C c.1760G>C (p.Ser587Thr) c.1421G>C (p.Ser474Thr) c.1769G>C (p.Ser590Thr) c.1877G>C (p.Ser626Thr) c.1841G>C (p.Ser614Thr) c.1799G>C (p.Ser600Thr) c.1679+5003G>C (n.1679+5003G>C) c.1895G>C (p.Ser632Thr) c.1961G>C (p.Ser654Thr) c.1958G>C (p.Ser653Thr) c.1931G>C (p.Ser644Thr) c.1850G>C (p.Ser617Thr) c.1835G>C (p.Ser612Thr) c.1442G>C (p.Ser481Thr) c.1904G>C (p.Ser635Thr) c.1838G>C (p.Ser613Thr) c.1796G>C (p.Ser599Thr) c.869G>C (p.Ser290Thr) | |
| 20 | g.63408447C>T | CA409640271 | KCNQ2 | c.1907G>A (p.Ser636Asn) c.1853G>A (p.Ser618Asn) n.38G>A c.1250G>A (p.Ser417Asn) n.9G>A c.1760G>A (p.Ser587Asn) c.1421G>A (p.Ser474Asn) c.1769G>A (p.Ser590Asn) c.1877G>A (p.Ser626Asn) c.1841G>A (p.Ser614Asn) c.1799G>A (p.Ser600Asn) c.1679+5003G>A (n.1679+5003G>A) c.1895G>A (p.Ser632Asn) c.1961G>A (p.Ser654Asn) c.1958G>A (p.Ser653Asn) c.1931G>A (p.Ser644Asn) c.1850G>A (p.Ser617Asn) c.1835G>A (p.Ser612Asn) c.1442G>A (p.Ser481Asn) c.1904G>A (p.Ser635Asn) c.1838G>A (p.Ser613Asn) c.1796G>A (p.Ser599Asn) c.869G>A (p.Ser290Asn) | |
| 20 | g.63408448T>A | CA409640272 | KCNQ2 | c.1906A>T (p.Ser636Cys) c.1852A>T (p.Ser618Cys) n.37A>T c.1249A>T (p.Ser417Cys) n.8A>T c.1759A>T (p.Ser587Cys) c.1420A>T (p.Ser474Cys) c.1768A>T (p.Ser590Cys) c.1876A>T (p.Ser626Cys) c.1840A>T (p.Ser614Cys) c.1798A>T (p.Ser600Cys) c.1679+5002A>T (n.1679+5002A>T) c.1894A>T (p.Ser632Cys) c.1960A>T (p.Ser654Cys) c.1957A>T (p.Ser653Cys) c.1930A>T (p.Ser644Cys) c.1849A>T (p.Ser617Cys) c.1834A>T (p.Ser612Cys) c.1441A>T (p.Ser481Cys) c.1903A>T (p.Ser635Cys) c.1837A>T (p.Ser613Cys) c.1795A>T (p.Ser599Cys) c.868A>T (p.Ser290Cys) | |
| 20 | g.63408448T>C | CA409640273 | KCNQ2 | c.1906A>G (p.Ser636Gly) c.1852A>G (p.Ser618Gly) n.37A>G c.1249A>G (p.Ser417Gly) n.8A>G c.1759A>G (p.Ser587Gly) c.1420A>G (p.Ser474Gly) c.1768A>G (p.Ser590Gly) c.1876A>G (p.Ser626Gly) c.1840A>G (p.Ser614Gly) c.1798A>G (p.Ser600Gly) c.1679+5002A>G (n.1679+5002A>G) c.1894A>G (p.Ser632Gly) c.1960A>G (p.Ser654Gly) c.1957A>G (p.Ser653Gly) c.1930A>G (p.Ser644Gly) c.1849A>G (p.Ser617Gly) c.1834A>G (p.Ser612Gly) c.1441A>G (p.Ser481Gly) c.1903A>G (p.Ser635Gly) c.1837A>G (p.Ser613Gly) c.1795A>G (p.Ser599Gly) c.868A>G (p.Ser290Gly) | |
| 20 | g.63408448T>G | CA409640274 | KCNQ2 | c.1906A>C (p.Ser636Arg) c.1852A>C (p.Ser618Arg) n.37A>C c.1249A>C (p.Ser417Arg) n.8A>C c.1759A>C (p.Ser587Arg) c.1420A>C (p.Ser474Arg) c.1768A>C (p.Ser590Arg) c.1876A>C (p.Ser626Arg) c.1840A>C (p.Ser614Arg) c.1798A>C (p.Ser600Arg) c.1679+5002A>C (n.1679+5002A>C) c.1894A>C (p.Ser632Arg) c.1960A>C (p.Ser654Arg) c.1957A>C (p.Ser653Arg) c.1930A>C (p.Ser644Arg) c.1849A>C (p.Ser617Arg) c.1834A>C (p.Ser612Arg) c.1441A>C (p.Ser481Arg) c.1903A>C (p.Ser635Arg) c.1837A>C (p.Ser613Arg) c.1795A>C (p.Ser599Arg) c.868A>C (p.Ser290Arg) | |
| 20 | g.63408448_63408449delinsTG | CA2374775205 | KCNQ2 | c.1905_1906delinsCA (p.Pro635=) c.1851_1852delinsCA (p.Pro617=) n.36_37delinsCA c.1248_1249delinsCA (p.Pro416=) n.7_8delinsCA c.1758_1759delinsCA (p.Pro586=) c.1419_1420delinsCA (p.Pro473=) c.1767_1768delinsCA (p.Pro589=) c.1875_1876delinsCA (p.Pro625=) c.1839_1840delinsCA (p.Pro613=) c.1797_1798delinsCA (p.Pro599=) c.1679+5001_1679+5002delinsCA (n.1679+5001_1679+5002delinsCA) c.1893_1894delinsCA (p.Pro631=) c.1959_1960delinsCA (p.Pro653=) c.1956_1957delinsCA (p.Pro652=) c.1929_1930delinsCA (p.Pro643=) c.1848_1849delinsCA (p.Pro616=) c.1833_1834delinsCA (p.Pro611=) c.1440_1441delinsCA (p.Pro480=) c.1902_1903delinsCA (p.Pro634=) c.1836_1837delinsCA (p.Pro612=) c.1794_1795delinsCA (p.Pro598=) c.867_868delinsCA (p.Pro289=) | |
| 20 | g.63408449G>A | CA511203545 | KCNQ2 | c.1905C>T (p.Pro635=) c.1851C>T (p.Pro617=) n.36C>T c.1248C>T (p.Pro416=) n.7C>T c.1758C>T (p.Pro586=) c.1419C>T (p.Pro473=) c.1767C>T (p.Pro589=) c.1875C>T (p.Pro625=) c.1839C>T (p.Pro613=) c.1797C>T (p.Pro599=) c.1679+5001C>T (n.1679+5001C>T) c.1893C>T (p.Pro631=) c.1959C>T (p.Pro653=) c.1956C>T (p.Pro652=) c.1929C>T (p.Pro643=) c.1848C>T (p.Pro616=) c.1833C>T (p.Pro611=) c.1440C>T (p.Pro480=) c.1902C>T (p.Pro634=) c.1836C>T (p.Pro612=) c.1794C>T (p.Pro598=) c.867C>T (p.Pro289=) | gnomAD v4 |
| 20 | g.63408449G>C | CA511203546 | KCNQ2 | c.1905C>G (p.Pro635=) c.1851C>G (p.Pro617=) n.36C>G c.1248C>G (p.Pro416=) n.7C>G c.1758C>G (p.Pro586=) c.1419C>G (p.Pro473=) c.1767C>G (p.Pro589=) c.1875C>G (p.Pro625=) c.1839C>G (p.Pro613=) c.1797C>G (p.Pro599=) c.1679+5001C>G (n.1679+5001C>G) c.1893C>G (p.Pro631=) c.1959C>G (p.Pro653=) c.1956C>G (p.Pro652=) c.1929C>G (p.Pro643=) c.1848C>G (p.Pro616=) c.1833C>G (p.Pro611=) c.1440C>G (p.Pro480=) c.1902C>G (p.Pro634=) c.1836C>G (p.Pro612=) c.1794C>G (p.Pro598=) c.867C>G (p.Pro289=) | |
| 20 | g.63408449G>T | CA511203547 | KCNQ2 | c.1905C>A (p.Pro635=) c.1851C>A (p.Pro617=) n.36C>A c.1248C>A (p.Pro416=) n.7C>A c.1758C>A (p.Pro586=) c.1419C>A (p.Pro473=) c.1767C>A (p.Pro589=) c.1875C>A (p.Pro625=) c.1839C>A (p.Pro613=) c.1797C>A (p.Pro599=) c.1679+5001C>A (n.1679+5001C>A) c.1893C>A (p.Pro631=) c.1959C>A (p.Pro653=) c.1956C>A (p.Pro652=) c.1929C>A (p.Pro643=) c.1848C>A (p.Pro616=) c.1833C>A (p.Pro611=) c.1440C>A (p.Pro480=) c.1902C>A (p.Pro634=) c.1836C>A (p.Pro612=) c.1794C>A (p.Pro598=) c.867C>A (p.Pro289=) | gnomAD v4 |
| 20 | g.63408452del | CA915952962 | KCNQ2 | c.1905del (p.Ser636AlafsTer2) c.1851del (p.Ser618AlafsTer2) n.36del c.1248del (p.Ser417AlafsTer2) n.7del c.1758del (p.Ser587AlafsTer2) c.1419del (p.Ser474AlafsTer2) c.1767del (p.Ser590AlafsTer2) c.1875del (p.Ser626AlafsTer2) c.1839del (p.Ser614AlafsTer2) c.1797del (p.Ser600AlafsTer2) c.1679+5001del (n.1679+5001del) c.1893del (p.Ser632AlafsTer2) c.1959del (p.Ser654AlafsTer2) c.1956del (p.Ser653AlafsTer2) c.1929del (p.Ser644AlafsTer2) c.1848del (p.Ser617AlafsTer2) c.1833del (p.Ser612AlafsTer2) c.1440del (p.Ser481AlafsTer2) c.1902del (p.Ser635AlafsTer2) c.1836del (p.Ser613AlafsTer2) c.1794del (p.Ser599AlafsTer2) c.867del (p.Ser290AlafsTer2) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63408450G>A | CA409640277 | KCNQ2 | c.1904C>T (p.Pro635Leu) c.1850C>T (p.Pro617Leu) n.35C>T c.1247C>T (p.Pro416Leu) n.6C>T c.1757C>T (p.Pro586Leu) c.1418C>T (p.Pro473Leu) c.1766C>T (p.Pro589Leu) c.1874C>T (p.Pro625Leu) c.1838C>T (p.Pro613Leu) c.1796C>T (p.Pro599Leu) c.1679+5000C>T (n.1679+5000C>T) c.1892C>T (p.Pro631Leu) c.1958C>T (p.Pro653Leu) c.1955C>T (p.Pro652Leu) c.1928C>T (p.Pro643Leu) c.1847C>T (p.Pro616Leu) c.1832C>T (p.Pro611Leu) c.1439C>T (p.Pro480Leu) c.1901C>T (p.Pro634Leu) c.1835C>T (p.Pro612Leu) c.1793C>T (p.Pro598Leu) c.866C>T (p.Pro289Leu) | gnomAD v4 |
| 20 | g.63408450G>C | CA409640275 | KCNQ2 | c.1904C>G (p.Pro635Arg) c.1850C>G (p.Pro617Arg) n.35C>G c.1247C>G (p.Pro416Arg) n.6C>G c.1757C>G (p.Pro586Arg) c.1418C>G (p.Pro473Arg) c.1766C>G (p.Pro589Arg) c.1874C>G (p.Pro625Arg) c.1838C>G (p.Pro613Arg) c.1796C>G (p.Pro599Arg) c.1679+5000C>G (n.1679+5000C>G) c.1892C>G (p.Pro631Arg) c.1958C>G (p.Pro653Arg) c.1955C>G (p.Pro652Arg) c.1928C>G (p.Pro643Arg) c.1847C>G (p.Pro616Arg) c.1832C>G (p.Pro611Arg) c.1439C>G (p.Pro480Arg) c.1901C>G (p.Pro634Arg) c.1835C>G (p.Pro612Arg) c.1793C>G (p.Pro598Arg) c.866C>G (p.Pro289Arg) | |
| 20 | g.63408450G>T | CA409640276 | KCNQ2 | c.1904C>A (p.Pro635His) c.1850C>A (p.Pro617His) n.35C>A c.1247C>A (p.Pro416His) n.6C>A c.1757C>A (p.Pro586His) c.1418C>A (p.Pro473His) c.1766C>A (p.Pro589His) c.1874C>A (p.Pro625His) c.1838C>A (p.Pro613His) c.1796C>A (p.Pro599His) c.1679+5000C>A (n.1679+5000C>A) c.1892C>A (p.Pro631His) c.1958C>A (p.Pro653His) c.1955C>A (p.Pro652His) c.1928C>A (p.Pro643His) c.1847C>A (p.Pro616His) c.1832C>A (p.Pro611His) c.1439C>A (p.Pro480His) c.1901C>A (p.Pro634His) c.1835C>A (p.Pro612His) c.1793C>A (p.Pro598His) c.866C>A (p.Pro289His) | gnomAD v4 |
| 20 | g.63408451G>A | CA9958234 | KCNQ2 | c.1903C>T (p.Pro635Ser) c.1849C>T (p.Pro617Ser) n.34C>T c.1246C>T (p.Pro416Ser) n.5C>T c.1756C>T (p.Pro586Ser) c.1417C>T (p.Pro473Ser) c.1765C>T (p.Pro589Ser) c.1873C>T (p.Pro625Ser) c.1837C>T (p.Pro613Ser) c.1795C>T (p.Pro599Ser) c.1679+4999C>T (n.1679+4999C>T) c.1891C>T (p.Pro631Ser) c.1957C>T (p.Pro653Ser) c.1954C>T (p.Pro652Ser) c.1927C>T (p.Pro643Ser) c.1846C>T (p.Pro616Ser) c.1831C>T (p.Pro611Ser) c.1438C>T (p.Pro480Ser) c.1900C>T (p.Pro634Ser) c.1834C>T (p.Pro612Ser) c.1792C>T (p.Pro598Ser) c.865C>T (p.Pro289Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63408451G>C | CA409640278 | KCNQ2 | c.1903C>G (p.Pro635Ala) c.1849C>G (p.Pro617Ala) n.34C>G c.1246C>G (p.Pro416Ala) n.5C>G c.1756C>G (p.Pro586Ala) c.1417C>G (p.Pro473Ala) c.1765C>G (p.Pro589Ala) c.1873C>G (p.Pro625Ala) c.1837C>G (p.Pro613Ala) c.1795C>G (p.Pro599Ala) c.1679+4999C>G (n.1679+4999C>G) c.1891C>G (p.Pro631Ala) c.1957C>G (p.Pro653Ala) c.1954C>G (p.Pro652Ala) c.1927C>G (p.Pro643Ala) c.1846C>G (p.Pro616Ala) c.1831C>G (p.Pro611Ala) c.1438C>G (p.Pro480Ala) c.1900C>G (p.Pro634Ala) c.1834C>G (p.Pro612Ala) c.1792C>G (p.Pro598Ala) c.865C>G (p.Pro289Ala) | |
| 20 | g.63408451G= | CA2374775206 | KCNQ2 | c.1903C= (p.Pro635=) c.1849C= (p.Pro617=) n.34C= c.1246C= (p.Pro416=) n.5C= c.1756C= (p.Pro586=) c.1417C= (p.Pro473=) c.1765C= (p.Pro589=) c.1873C= (p.Pro625=) c.1837C= (p.Pro613=) c.1795C= (p.Pro599=) c.1679+4999C= (n.1679+4999C=) c.1891C= (p.Pro631=) c.1957C= (p.Pro653=) c.1954C= (p.Pro652=) c.1927C= (p.Pro643=) c.1846C= (p.Pro616=) c.1831C= (p.Pro611=) c.1438C= (p.Pro480=) c.1900C= (p.Pro634=) c.1834C= (p.Pro612=) c.1792C= (p.Pro598=) c.865C= (p.Pro289=) | |
| 20 | g.63408451G>T | CA409640279 | KCNQ2 | c.1903C>A (p.Pro635Thr) c.1849C>A (p.Pro617Thr) n.34C>A c.1246C>A (p.Pro416Thr) n.5C>A c.1756C>A (p.Pro586Thr) c.1417C>A (p.Pro473Thr) c.1765C>A (p.Pro589Thr) c.1873C>A (p.Pro625Thr) c.1837C>A (p.Pro613Thr) c.1795C>A (p.Pro599Thr) c.1679+4999C>A (n.1679+4999C>A) c.1891C>A (p.Pro631Thr) c.1957C>A (p.Pro653Thr) c.1954C>A (p.Pro652Thr) c.1927C>A (p.Pro643Thr) c.1846C>A (p.Pro616Thr) c.1831C>A (p.Pro611Thr) c.1438C>A (p.Pro480Thr) c.1900C>A (p.Pro634Thr) c.1834C>A (p.Pro612Thr) c.1792C>A (p.Pro598Thr) c.865C>A (p.Pro289Thr) | gnomAD v4 |