| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.67711384_67711484del | CA2693950049 | AR | c.*234-18_*316del c.1886-18_1968del c.513-18_595del c.290-18_372del c.1316-18_1398del | gnomAD v4 |
| X | g.67711423G>A | CA413422991 | AR | c.*255G>A (n.*255G>A) c.1907G>A (p.Gly636Asp) c.534G>A (n.534G>A) c.311G>A (p.Gly104Asp) c.1337G>A (p.Gly446Asp) | dbSNP |
| X | g.67711423G>C | CA413422992 | AR | c.*255G>C (n.*255G>C) c.1907G>C (p.Gly636Ala) c.534G>C (n.534G>C) c.311G>C (p.Gly104Ala) c.1337G>C (p.Gly446Ala) | dbSNP |
| X | g.67711423G>T | CA413422993 | AR | c.*255G>T (n.*255G>T) c.1907G>T (p.Gly636Val) c.534G>T (n.534G>T) c.311G>T (p.Gly104Val) c.1337G>T (p.Gly446Val) | dbSNP gnomAD v4 |
| X | g.67711424T>A | CA516970200 | AR | c.*256T>A (n.*256T>A) c.1908T>A (p.Gly636=) c.535T>A (n.535T>A) c.312T>A (p.Gly104=) c.1338T>A (p.Gly446=) | |
| X | g.67711424T>C | CA516970202 | AR | c.*256T>C (n.*256T>C) c.1908T>C (p.Gly636=) c.535T>C (n.535T>C) c.312T>C (p.Gly104=) c.1338T>C (p.Gly446=) | gnomAD v4 |
| X | g.67711424T>G | CA516970204 | AR | c.*256T>G (n.*256T>G) c.1908T>G (p.Gly636=) c.535T>G (n.535T>G) c.312T>G (p.Gly104=) c.1338T>G (p.Gly446=) | |
| X | g.67711425A>C | CA413422994 | AR | c.*257A>C (n.*257A>C) c.1909A>C (p.Asn637His) c.536A>C (n.536A>C) c.313A>C (p.Asn105His) c.1339A>C (p.Asn447His) | gnomAD v4 |
| X | g.67711425A>G | CA413422995 | AR | c.*257A>G (n.*257A>G) c.1909A>G (p.Asn637Asp) c.536A>G (n.536A>G) c.313A>G (p.Asn105Asp) c.1339A>G (p.Asn447Asp) | |
| X | g.67711425A>T | CA413422996 | AR | c.*257A>T (n.*257A>T) c.1909A>T (p.Asn637Tyr) c.536A>T (n.536A>T) c.313A>T (p.Asn105Tyr) c.1339A>T (p.Asn447Tyr) | |
| X | g.67711426del | CA2693950062 | AR | c.*258del (n.*258del) c.1910del (p.Asn637IlefsTer2) c.537del (n.537del) c.314del (p.Asn105IlefsTer2) c.1340del (p.Asn447IlefsTer2) | gnomAD v4 |
| X | g.67711426A>C | CA413422997 | AR | c.*258A>C (n.*258A>C) c.1910A>C (p.Asn637Thr) c.537A>C (n.537A>C) c.314A>C (p.Asn105Thr) c.1340A>C (p.Asn447Thr) | |
| X | g.67711426A>G | CA413422999 | AR | c.*258A>G (n.*258A>G) c.1910A>G (p.Asn637Ser) c.537A>G (n.537A>G) c.314A>G (p.Asn105Ser) c.1340A>G (p.Asn447Ser) | |
| X | g.67711426A>T | CA413422998 | AR | c.*258A>T (n.*258A>T) c.1910A>T (p.Asn637Ile) c.537A>T (n.537A>T) c.314A>T (p.Asn105Ile) c.1340A>T (p.Asn447Ile) | dbSNP |
| X | g.67711427T>A | CA413423000 | AR | c.*259T>A (n.*259T>A) c.1911T>A (p.Asn637Lys) c.538T>A (n.538T>A) c.315T>A (p.Asn105Lys) c.1341T>A (p.Asn447Lys) | dbSNP |
| X | g.67711427T>C | CA516970208 | AR | c.*259T>C (n.*259T>C) c.1911T>C (p.Asn637=) c.538T>C (n.538T>C) c.315T>C (p.Asn105=) c.1341T>C (p.Asn447=) | |
| X | g.67711427T>G | CA413423001 | AR | c.*259T>G (n.*259T>G) c.1911T>G (p.Asn637Lys) c.538T>G (n.538T>G) c.315T>G (p.Asn105Lys) c.1341T>G (p.Asn447Lys) | dbSNP |
| X | g.67711428C>A | CA413423002 | AR | c.*260C>A (n.*260C>A) c.1912C>A (p.Leu638Met) c.539C>A (n.539C>A) c.316C>A (p.Leu106Met) c.1342C>A (p.Leu448Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.67711428C= | CA2435130437 | AR | c.*260C= (n.*260C=) c.1912C= (p.Leu638=) c.539C= (n.539C=) c.316C= (p.Leu106=) c.1342C= (p.Leu448=) | |
| X | g.67711428C>G | CA413423003 | AR | c.*260C>G (n.*260C>G) c.1912C>G (p.Leu638Val) c.539C>G (n.539C>G) c.316C>G (p.Leu106Val) c.1342C>G (p.Leu448Val) | dbSNP |
| X | g.67711428C>T | CA516970212 | AR | c.*260C>T (n.*260C>T) c.1912C>T (p.Leu638=) c.539C>T (n.539C>T) c.316C>T (p.Leu106=) c.1342C>T (p.Leu448=) | |
| X | g.67711429T>A | CA413423006 | AR | c.*261T>A (n.*261T>A) c.1913T>A (p.Leu638Gln) c.540T>A (n.540T>A) c.317T>A (p.Leu106Gln) c.1343T>A (p.Leu448Gln) | |
| X | g.67711429T>C | CA413423004 | AR | c.*261T>C (n.*261T>C) c.1913T>C (p.Leu638Pro) c.540T>C (n.540T>C) c.317T>C (p.Leu106Pro) c.1343T>C (p.Leu448Pro) | |
| X | g.67711429T>G | CA413423005 | AR | c.*261T>G (n.*261T>G) c.1913T>G (p.Leu638Arg) c.540T>G (n.540T>G) c.317T>G (p.Leu106Arg) c.1343T>G (p.Leu448Arg) | |
| X | g.67711430G>A | CA516970213 | AR | c.*262G>A (n.*262G>A) c.1914G>A (p.Leu638=) c.541G>A (n.541G>A) c.318G>A (p.Leu106=) c.1344G>A (p.Leu448=) | |
| X | g.67711430G>C | CA516970214 | AR | c.*262G>C (n.*262G>C) c.1914G>C (p.Leu638=) c.541G>C (n.541G>C) c.318G>C (p.Leu106=) c.1344G>C (p.Leu448=) | dbSNP |
| X | g.67711430G>T | CA516970215 | AR | c.*262G>T (n.*262G>T) c.1914G>T (p.Leu638=) c.541G>T (n.541G>T) c.318G>T (p.Leu106=) c.1344G>T (p.Leu448=) | |
| X | g.67711431A>C | CA413423007 | AR | c.*263A>C (n.*263A>C) c.1915A>C (p.Lys639Gln) c.542A>C (n.542A>C) c.319A>C (p.Lys107Gln) c.1345A>C (p.Lys449Gln) | |
| X | g.67711431A>G | CA413423008 | AR | c.*263A>G (n.*263A>G) c.1915A>G (p.Lys639Glu) c.542A>G (n.542A>G) c.319A>G (p.Lys107Glu) c.1345A>G (p.Lys449Glu) | dbSNP |
| X | g.67711431A>T | CA413423009 | AR | c.*263A>T (n.*263A>T) c.1915A>T (p.Lys639Ter) c.542A>T (n.542A>T) c.319A>T (p.Lys107Ter) c.1345A>T (p.Lys449Ter) | dbSNP |
| X | g.67711432A>C | CA413423010 | AR | c.*264A>C (n.*264A>C) c.1916A>C (p.Lys639Thr) c.543A>C (n.543A>C) c.320A>C (p.Lys107Thr) c.1346A>C (p.Lys449Thr) | |
| X | g.67711432A>G | CA413423011 | AR | c.*264A>G (n.*264A>G) c.1916A>G (p.Lys639Arg) c.543A>G (n.543A>G) c.320A>G (p.Lys107Arg) c.1346A>G (p.Lys449Arg) | |
| X | g.67711432A>T | CA413423012 | AR | c.*264A>T (n.*264A>T) c.1916A>T (p.Lys639Ile) c.543A>T (n.543A>T) c.320A>T (p.Lys107Ile) c.1346A>T (p.Lys449Ile) | |
| X | g.67711433A>C | CA413423013 | AR | c.*265A>C (n.*265A>C) c.1917A>C (p.Lys639Asn) c.544A>C (n.544A>C) c.321A>C (p.Lys107Asn) c.1347A>C (p.Lys449Asn) | |
| X | g.67711433A>G | CA516970217 | AR | c.*265A>G (n.*265A>G) c.1917A>G (p.Lys639=) c.544A>G (n.544A>G) c.321A>G (p.Lys107=) c.1347A>G (p.Lys449=) | gnomAD v4 |
| X | g.67711433A>T | CA413423014 | AR | c.*265A>T (n.*265A>T) c.1917A>T (p.Lys639Asn) c.544A>T (n.544A>T) c.321A>T (p.Lys107Asn) c.1347A>T (p.Lys449Asn) | |
| X | g.67711434C>A | CA413423015 | AR | c.*266C>A (n.*266C>A) c.1918C>A (p.Leu640Ile) c.545C>A (n.545C>A) c.322C>A (p.Leu108Ile) c.1348C>A (p.Leu450Ile) | |
| X | g.67711434C>G | CA413423016 | AR | c.*266C>G (n.*266C>G) c.1918C>G (p.Leu640Val) c.545C>G (n.545C>G) c.322C>G (p.Leu108Val) c.1348C>G (p.Leu450Val) | dbSNP |
| X | g.67711434C>T | CA516970219 | AR | c.*266C>T (n.*266C>T) c.1918C>T (p.Leu640=) c.545C>T (n.545C>T) c.322C>T (p.Leu108=) c.1348C>T (p.Leu450=) | COSMIC COSMIC |
| X | g.67711435T>A | CA413423017 | AR | c.*267T>A (n.*267T>A) c.1919T>A (p.Leu640Gln) c.546T>A (n.546T>A) c.323T>A (p.Leu108Gln) c.1349T>A (p.Leu450Gln) | dbSNP |
| X | g.67711435T>C | CA413423018 | AR | c.*267T>C (n.*267T>C) c.1919T>C (p.Leu640Pro) c.546T>C (n.546T>C) c.323T>C (p.Leu108Pro) c.1349T>C (p.Leu450Pro) | |
| X | g.67711435T>G | CA413423019 | AR | c.*267T>G (n.*267T>G) c.1919T>G (p.Leu640Arg) c.546T>G (n.546T>G) c.323T>G (p.Leu108Arg) c.1349T>G (p.Leu450Arg) | |
| X | g.67711436A= | CA2435130438 | AR | c.*268A= (n.*268A=) c.1920A= (p.Leu640=) c.547A= (n.547A=) c.324A= (p.Leu108=) c.1350A= (p.Leu450=) | |
| X | g.67711436A>C | CA516970221 | AR | c.*268A>C (n.*268A>C) c.1920A>C (p.Leu640=) c.547A>C (n.547A>C) c.324A>C (p.Leu108=) c.1350A>C (p.Leu450=) | |
| X | g.67711436A>G | CA516970222 | AR | c.*268A>G (n.*268A>G) c.1920A>G (p.Leu640=) c.547A>G (n.547A>G) c.324A>G (p.Leu108=) c.1350A>G (p.Leu450=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711436A>T | CA516970223 | AR | c.*268A>T (n.*268A>T) c.1920A>T (p.Leu640=) c.547A>T (n.547A>T) c.324A>T (p.Leu108=) c.1350A>T (p.Leu450=) | dbSNP |
| X | g.67711437C>A | CA413423020 | AR | c.*269C>A (n.*269C>A) c.1921C>A (p.Gln641Lys) c.548C>A (n.548C>A) c.325C>A (p.Gln109Lys) c.1351C>A (p.Gln451Lys) | gnomAD v4 |
| X | g.67711437C>G | CA413423022 | AR | c.*269C>G (n.*269C>G) c.1921C>G (p.Gln641Glu) c.548C>G (n.548C>G) c.325C>G (p.Gln109Glu) c.1351C>G (p.Gln451Glu) | |
| X | g.67711437C>T | CA413423021 | AR | c.*269C>T (n.*269C>T) c.1921C>T (p.Gln641Ter) c.548C>T (n.548C>T) c.325C>T (p.Gln109Ter) c.1351C>T (p.Gln451Ter) | COSMIC |
| X | g.67711438A>C | CA413423023 | AR | c.*270A>C (n.*270A>C) c.1922A>C (p.Gln641Pro) c.549A>C (n.549A>C) c.326A>C (p.Gln109Pro) c.1352A>C (p.Gln451Pro) | |
| X | g.67711438A>G | CA413423024 | AR | c.*270A>G (n.*270A>G) c.1922A>G (p.Gln641Arg) c.549A>G (n.549A>G) c.326A>G (p.Gln109Arg) c.1352A>G (p.Gln451Arg) | dbSNP gnomAD v4 |
| X | g.67711438A>T | CA413423025 | AR | c.*270A>T (n.*270A>T) c.1922A>T (p.Gln641Leu) c.549A>T (n.549A>T) c.326A>T (p.Gln109Leu) c.1352A>T (p.Gln451Leu) | |
| X | g.67711439G>A | CA517048107 | AR | c.*271G>A (n.*271G>A) c.1923G>A (p.Gln641=) c.550G>A (n.550G>A) c.327G>A (p.Gln109=) c.1353G>A (p.Gln451=) | gnomAD v4 |
| X | g.67711439G>C | CA413423026 | AR | c.*271G>C (n.*271G>C) c.1923G>C (p.Gln641His) c.550G>C (n.550G>C) c.327G>C (p.Gln109His) c.1353G>C (p.Gln451His) | |
| X | g.67711439G>T | CA413423027 | AR | c.*271G>T (n.*271G>T) c.1923G>T (p.Gln641His) c.550G>T (n.550G>T) c.327G>T (p.Gln109His) c.1353G>T (p.Gln451His) | |
| X | g.67711440G>A | CA330771338 | AR | c.*272G>A (n.*272G>A) c.1924G>A (p.Glu642Lys) c.551G>A (n.551G>A) c.328G>A (p.Glu110Lys) c.1354G>A (p.Glu452Lys) | dbSNP |
| X | g.67711440G>C | CA413423029 | AR | c.*272G>C (n.*272G>C) c.1924G>C (p.Glu642Gln) c.551G>C (n.551G>C) c.328G>C (p.Glu110Gln) c.1354G>C (p.Glu452Gln) | dbSNP |
| X | g.67711440G= | CA2435130439 | AR | c.*272G= (n.*272G=) c.1924G= (p.Glu642=) c.551G= (n.551G=) c.328G= (p.Glu110=) c.1354G= (p.Glu452=) | |
| X | g.67711440G>T | CA413423028 | AR | c.*272G>T (n.*272G>T) c.1924G>T (p.Glu642Ter) c.551G>T (n.551G>T) c.328G>T (p.Glu110Ter) c.1354G>T (p.Glu452Ter) | dbSNP |
| X | g.67711441A>C | CA413423030 | AR | c.*273A>C (n.*273A>C) c.1925A>C (p.Glu642Ala) c.552A>C (n.552A>C) c.329A>C (p.Glu110Ala) c.1355A>C (p.Glu452Ala) | |
| X | g.67711441A>G | CA413423031 | AR | c.*273A>G (n.*273A>G) c.1925A>G (p.Glu642Gly) c.552A>G (n.552A>G) c.329A>G (p.Glu110Gly) c.1355A>G (p.Glu452Gly) | |
| X | g.67711441A>T | CA413423032 | AR | c.*273A>T (n.*273A>T) c.1925A>T (p.Glu642Val) c.552A>T (n.552A>T) c.329A>T (p.Glu110Val) c.1355A>T (p.Glu452Val) | dbSNP |
| X | g.67711442G>A | CA10436555 | AR | c.*274G>A (n.*274G>A) c.1926G>A (p.Glu642=) c.553G>A (n.553G>A) c.330G>A (p.Glu110=) c.1356G>A (p.Glu452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711442G>C | CA413423033 | AR | c.*274G>C (n.*274G>C) c.1926G>C (p.Glu642Asp) c.553G>C (n.553G>C) c.330G>C (p.Glu110Asp) c.1356G>C (p.Glu452Asp) | dbSNP |
| X | g.67711442G= | CA2435130440 | AR | c.*274G= (n.*274G=) c.1926G= (p.Glu642=) c.553G= (n.553G=) c.330G= (p.Glu110=) c.1356G= (p.Glu452=) | |
| X | g.67711442G>T | CA413423034 | AR | c.*274G>T (n.*274G>T) c.1926G>T (p.Glu642Asp) c.553G>T (n.553G>T) c.330G>T (p.Glu110Asp) c.1356G>T (p.Glu452Asp) | dbSNP |
| X | g.67711443G>A | CA413423035 | AR | c.*275G>A (n.*275G>A) c.1927G>A (p.Glu643Lys) c.554G>A (n.554G>A) c.331G>A (p.Glu111Lys) c.1357G>A (p.Glu453Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.67711443G>C | CA413423037 | AR | c.*275G>C (n.*275G>C) c.1927G>C (p.Glu643Gln) c.554G>C (n.554G>C) c.331G>C (p.Glu111Gln) c.1357G>C (p.Glu453Gln) | dbSNP |
| X | g.67711443G= | CA2435130441 | AR | c.*275G= (n.*275G=) c.1927G= (p.Glu643=) c.554G= (n.554G=) c.331G= (p.Glu111=) c.1357G= (p.Glu453=) | |
| X | g.67711443G>T | CA413423036 | AR | c.*275G>T (n.*275G>T) c.1927G>T (p.Glu643Ter) c.554G>T (n.554G>T) c.331G>T (p.Glu111Ter) c.1357G>T (p.Glu453Ter) | dbSNP |
| X | g.67711444A>C | CA413423038 | AR | c.*276A>C (n.*276A>C) c.1928A>C (p.Glu643Ala) c.555A>C (n.555A>C) c.332A>C (p.Glu111Ala) c.1358A>C (p.Glu453Ala) | |
| X | g.67711444A>G | CA413423039 | AR | c.*276A>G (n.*276A>G) c.1928A>G (p.Glu643Gly) c.555A>G (n.555A>G) c.332A>G (p.Glu111Gly) c.1358A>G (p.Glu453Gly) | dbSNP |
| X | g.67711444A>T | CA413423040 | AR | c.*276A>T (n.*276A>T) c.1928A>T (p.Glu643Val) c.555A>T (n.555A>T) c.332A>T (p.Glu111Val) c.1358A>T (p.Glu453Val) | dbSNP |
| X | g.67711445A>C | CA413423041 | AR | c.*277A>C (n.*277A>C) c.1929A>C (p.Glu643Asp) c.556A>C (n.556A>C) c.333A>C (p.Glu111Asp) c.1359A>C (p.Glu453Asp) | |
| X | g.67711445A>G | CA517048123 | AR | c.*277A>G (n.*277A>G) c.1929A>G (p.Glu643=) c.556A>G (n.556A>G) c.333A>G (p.Glu111=) c.1359A>G (p.Glu453=) | dbSNP |
| X | g.67711445A>T | CA413423042 | AR | c.*277A>T (n.*277A>T) c.1929A>T (p.Glu643Asp) c.556A>T (n.556A>T) c.333A>T (p.Glu111Asp) c.1359A>T (p.Glu453Asp) | dbSNP |
| X | g.67711446G>A | CA413423043 | AR | c.*278G>A (n.*278G>A) c.1930G>A (p.Gly644Arg) c.557G>A (n.557G>A) c.334G>A (p.Gly112Arg) c.1360G>A (p.Gly454Arg) | dbSNP |
| X | g.67711446G>C | CA413423044 | AR | c.*278G>C (n.*278G>C) c.1930G>C (p.Gly644Arg) c.557G>C (n.557G>C) c.334G>C (p.Gly112Arg) c.1360G>C (p.Gly454Arg) | dbSNP |
| X | g.67711446G>T | CA413423045 | AR | c.*278G>T (n.*278G>T) c.1930G>T (p.Gly644Ter) c.557G>T (n.557G>T) c.334G>T (p.Gly112Ter) c.1360G>T (p.Gly454Ter) | dbSNP |
| X | g.67711447G>A | CA413423046 | AR | c.*279G>A (n.*279G>A) c.1931G>A (p.Gly644Glu) c.558G>A (n.558G>A) c.335G>A (p.Gly112Glu) c.1361G>A (p.Gly454Glu) | dbSNP |
| X | g.67711447G>C | CA413423047 | AR | c.*279G>C (n.*279G>C) c.1931G>C (p.Gly644Ala) c.558G>C (n.558G>C) c.335G>C (p.Gly112Ala) c.1361G>C (p.Gly454Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711447G= | CA2435130442 | AR | c.*279G= (n.*279G=) c.1931G= (p.Gly644=) c.558G= (n.558G=) c.335G= (p.Gly112=) c.1361G= (p.Gly454=) | |
| X | g.67711447G>T | CA413423048 | AR | c.*279G>T (n.*279G>T) c.1931G>T (p.Gly644Val) c.558G>T (n.558G>T) c.335G>T (p.Gly112Val) c.1361G>T (p.Gly454Val) | |
| X | g.67711448A>C | CA517048136 | AR | c.*280A>C (n.*280A>C) c.1932A>C (p.Gly644=) c.559A>C (n.559A>C) c.336A>C (p.Gly112=) c.1362A>C (p.Gly454=) | |
| X | g.67711448A>G | CA517048139 | AR | c.*280A>G (n.*280A>G) c.1932A>G (p.Gly644=) c.559A>G (n.559A>G) c.336A>G (p.Gly112=) c.1362A>G (p.Gly454=) | dbSNP |
| X | g.67711448A>T | CA517048141 | AR | c.*280A>T (n.*280A>T) c.1932A>T (p.Gly644=) c.559A>T (n.559A>T) c.336A>T (p.Gly112=) c.1362A>T (p.Gly454=) | dbSNP |
| X | g.67711449G>A | CA413423049 | AR | c.*281G>A (n.*281G>A) c.1933G>A (p.Glu645Lys) c.560G>A (n.560G>A) c.337G>A (p.Glu113Lys) c.1363G>A (p.Glu455Lys) | dbSNP COSMIC COSMIC |
| X | g.67711449G>C | CA413423051 | AR | c.*281G>C (n.*281G>C) c.1933G>C (p.Glu645Gln) c.560G>C (n.560G>C) c.337G>C (p.Glu113Gln) c.1363G>C (p.Glu455Gln) | dbSNP |
| X | g.67711449G>T | CA413423050 | AR | c.*281G>T (n.*281G>T) c.1933G>T (p.Glu645Ter) c.560G>T (n.560G>T) c.337G>T (p.Glu113Ter) c.1363G>T (p.Glu455Ter) | ClinVar dbSNP |
| X | g.67711450A= | CA2435130443 | AR | c.*282A= (n.*282A=) c.1934A= (p.Glu645=) c.561A= (n.561A=) c.338A= (p.Glu113=) c.1364A= (p.Glu455=) | |
| X | g.67711450A>C | CA413423052 | AR | c.*282A>C (n.*282A>C) c.1934A>C (p.Glu645Ala) c.561A>C (n.561A>C) c.338A>C (p.Glu113Ala) c.1364A>C (p.Glu455Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711450A>G | CA413423054 | AR | c.*282A>G (n.*282A>G) c.1934A>G (p.Glu645Gly) c.561A>G (n.561A>G) c.338A>G (p.Glu113Gly) c.1364A>G (p.Glu455Gly) | dbSNP |
| X | g.67711450A>T | CA413423053 | AR | c.*282A>T (n.*282A>T) c.1934A>T (p.Glu645Val) c.561A>T (n.561A>T) c.338A>T (p.Glu113Val) c.1364A>T (p.Glu455Val) | dbSNP |
| X | g.67711451G>A | CA517048143 | AR | c.*283G>A (n.*283G>A) c.1935G>A (p.Glu645=) c.562G>A (n.562G>A) c.339G>A (p.Glu113=) c.1365G>A (p.Glu455=) | dbSNP |
| X | g.67711451G>C | CA413423055 | AR | c.*283G>C (n.*283G>C) c.1935G>C (p.Glu645Asp) c.562G>C (n.562G>C) c.339G>C (p.Glu113Asp) c.1365G>C (p.Glu455Asp) | dbSNP |
| X | g.67711451G>T | CA413423056 | AR | c.*283G>T (n.*283G>T) c.1935G>T (p.Glu645Asp) c.562G>T (n.562G>T) c.339G>T (p.Glu113Asp) c.1365G>T (p.Glu455Asp) | dbSNP |
| X | g.67711452G>A | CA413423057 | AR | c.*284G>A (n.*284G>A) c.1936G>A (p.Ala646Thr) c.563G>A (n.563G>A) c.340G>A (p.Ala114Thr) c.1366G>A (p.Ala456Thr) | dbSNP |
| X | g.67711452G>C | CA413423058 | AR | c.*284G>C (n.*284G>C) c.1936G>C (p.Ala646Pro) c.563G>C (n.563G>C) c.340G>C (p.Ala114Pro) c.1366G>C (p.Ala456Pro) | dbSNP |
| X | g.67711452G>T | CA413423059 | AR | c.*284G>T (n.*284G>T) c.1936G>T (p.Ala646Ser) c.563G>T (n.563G>T) c.340G>T (p.Ala114Ser) c.1366G>T (p.Ala456Ser) | gnomAD v4 |
| X | g.67711453C>A | CA120795 | AR | c.*285C>A (n.*285C>A) c.1937C>A (p.Ala646Asp) c.564C>A (n.564C>A) c.341C>A (p.Ala114Asp) c.1367C>A (p.Ala456Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711453C= | CA2435130444 | AR | c.*285C= (n.*285C=) c.1937C= (p.Ala646=) c.564C= (n.564C=) c.341C= (p.Ala114=) c.1367C= (p.Ala456=) | |
| X | g.67711453C>G | CA413423060 | AR | c.*285C>G (n.*285C>G) c.1937C>G (p.Ala646Gly) c.564C>G (n.564C>G) c.341C>G (p.Ala114Gly) c.1367C>G (p.Ala456Gly) | dbSNP |
| X | g.67711453C>T | CA413423061 | AR | c.*285C>T (n.*285C>T) c.1937C>T (p.Ala646Val) c.564C>T (n.564C>T) c.341C>T (p.Ala114Val) c.1367C>T (p.Ala456Val) | dbSNP |
| X | g.67711454T>A | CA517048153 | AR | c.*286T>A (n.*286T>A) c.1938T>A (p.Ala646=) c.565T>A (n.565T>A) c.342T>A (p.Ala114=) c.1368T>A (p.Ala456=) | dbSNP |
| X | g.67711454T>C | CA517048154 | AR | c.*286T>C (n.*286T>C) c.1938T>C (p.Ala646=) c.565T>C (n.565T>C) c.342T>C (p.Ala114=) c.1368T>C (p.Ala456=) | dbSNP |
| X | g.67711454T>G | CA517048157 | AR | c.*286T>G (n.*286T>G) c.1938T>G (p.Ala646=) c.565T>G (n.565T>G) c.342T>G (p.Ala114=) c.1368T>G (p.Ala456=) | dbSNP |
| X | g.67711455T>A | CA413423062 | AR | c.*287T>A (n.*287T>A) c.1939T>A (p.Ser647Thr) c.566T>A (n.566T>A) c.343T>A (p.Ser115Thr) c.1369T>A (p.Ser457Thr) | |
| X | g.67711455T>C | CA413423063 | AR | c.*287T>C (n.*287T>C) c.1939T>C (p.Ser647Pro) c.566T>C (n.566T>C) c.343T>C (p.Ser115Pro) c.1369T>C (p.Ser457Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711455T>G | CA413423064 | AR | c.*287T>G (n.*287T>G) c.1939T>G (p.Ser647Ala) c.566T>G (n.566T>G) c.343T>G (p.Ser115Ala) c.1369T>G (p.Ser457Ala) | |
| X | g.67711455T= | CA2435130445 | AR | c.*287T= (n.*287T=) c.1939T= (p.Ser647=) c.566T= (n.566T=) c.343T= (p.Ser115=) c.1369T= (p.Ser457=) | |
| X | g.67711456C>A | CA413423067 | AR | c.*288C>A (n.*288C>A) c.1940C>A (p.Ser647Tyr) c.567C>A (n.567C>A) c.344C>A (p.Ser115Tyr) c.1370C>A (p.Ser457Tyr) | |
| X | g.67711456C>G | CA413423065 | AR | c.*288C>G (n.*288C>G) c.1940C>G (p.Ser647Cys) c.567C>G (n.567C>G) c.344C>G (p.Ser115Cys) c.1370C>G (p.Ser457Cys) | |
| X | g.67711456C>T | CA413423066 | AR | c.*288C>T (n.*288C>T) c.1940C>T (p.Ser647Phe) c.567C>T (n.567C>T) c.344C>T (p.Ser115Phe) c.1370C>T (p.Ser457Phe) | dbSNP |
| X | g.67711457C>A | CA517048161 | AR | c.*289C>A (n.*289C>A) c.1941C>A (p.Ser647=) c.568C>A (n.568C>A) c.345C>A (p.Ser115=) c.1371C>A (p.Ser457=) | dbSNP gnomAD v4 |
| X | g.67711457C>G | CA517048162 | AR | c.*289C>G (n.*289C>G) c.1941C>G (p.Ser647=) c.568C>G (n.568C>G) c.345C>G (p.Ser115=) c.1371C>G (p.Ser457=) | |
| X | g.67711457C>T | CA517048166 | AR | c.*289C>T (n.*289C>T) c.1941C>T (p.Ser647=) c.568C>T (n.568C>T) c.345C>T (p.Ser115=) c.1371C>T (p.Ser457=) | dbSNP |
| X | g.67711458A= | CA2435130446 | AR | c.*290A= (n.*290A=) c.1942A= (p.Ser648=) c.569A= (n.569A=) c.346A= (p.Ser116=) c.1372A= (p.Ser458=) | |
| X | g.67711458A>C | CA413423068 | AR | c.*290A>C (n.*290A>C) c.1942A>C (p.Ser648Arg) c.569A>C (n.569A>C) c.346A>C (p.Ser116Arg) c.1372A>C (p.Ser458Arg) | |
| X | g.67711458A>G | CA413423069 | AR | c.*290A>G (n.*290A>G) c.1942A>G (p.Ser648Gly) c.569A>G (n.569A>G) c.346A>G (p.Ser116Gly) c.1372A>G (p.Ser458Gly) | dbSNP |
| X | g.67711458A>T | CA413423070 | AR | c.*290A>T (n.*290A>T) c.1942A>T (p.Ser648Cys) c.569A>T (n.569A>T) c.346A>T (p.Ser116Cys) c.1372A>T (p.Ser458Cys) | dbSNP |
| X | g.67711459G>A | CA120692 | AR | c.*291G>A (n.*291G>A) c.1943G>A (p.Ser648Asn) c.570G>A (n.570G>A) c.347G>A (p.Ser116Asn) c.1373G>A (p.Ser458Asn) | ClinVar dbSNP COSMIC |
| X | g.67711459G>C | CA413423071 | AR | c.*291G>C (n.*291G>C) c.1943G>C (p.Ser648Thr) c.570G>C (n.570G>C) c.347G>C (p.Ser116Thr) c.1373G>C (p.Ser458Thr) | |
| X | g.67711459G= | CA2435130447 | AR | c.*291G= (n.*291G=) c.1943G= (p.Ser648=) c.570G= (n.570G=) c.347G= (p.Ser116=) c.1373G= (p.Ser458=) | |
| X | g.67711459G>T | CA413423072 | AR | c.*291G>T (n.*291G>T) c.1943G>T (p.Ser648Ile) c.570G>T (n.570G>T) c.347G>T (p.Ser116Ile) c.1373G>T (p.Ser458Ile) | |
| X | g.67711460C>A | CA413423073 | AR | c.*292C>A (n.*292C>A) c.1944C>A (p.Ser648Arg) c.571C>A (n.571C>A) c.348C>A (p.Ser116Arg) c.1374C>A (p.Ser458Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.67711460C= | CA2435130448 | AR | c.*292C= (n.*292C=) c.1944C= (p.Ser648=) c.571C= (n.571C=) c.348C= (p.Ser116=) c.1374C= (p.Ser458=) | |
| X | g.67711460C>G | CA413423074 | AR | c.*292C>G (n.*292C>G) c.1944C>G (p.Ser648Arg) c.571C>G (n.571C>G) c.348C>G (p.Ser116Arg) c.1374C>G (p.Ser458Arg) | dbSNP |
| X | g.67711460C>T | CA517048169 | AR | c.*292C>T (n.*292C>T) c.1944C>T (p.Ser648=) c.571C>T (n.571C>T) c.348C>T (p.Ser116=) c.1374C>T (p.Ser458=) | ClinVar dbSNP |
| X | g.67711461A= | CA2435130449 | AR | c.*293A= (n.*293A=) c.1945A= (p.Thr649=) c.572A= (n.572A=) c.349A= (p.Thr117=) c.1375A= (p.Thr459=) | |
| X | g.67711461A>C | CA330771339 | AR | c.*293A>C (n.*293A>C) c.1945A>C (p.Thr649Pro) c.572A>C (n.572A>C) c.349A>C (p.Thr117Pro) c.1375A>C (p.Thr459Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711461A>G | CA413423075 | AR | c.*293A>G (n.*293A>G) c.1945A>G (p.Thr649Ala) c.572A>G (n.572A>G) c.349A>G (p.Thr117Ala) c.1375A>G (p.Thr459Ala) | |
| X | g.67711461A>T | CA413423076 | AR | c.*293A>T (n.*293A>T) c.1945A>T (p.Thr649Ser) c.572A>T (n.572A>T) c.349A>T (p.Thr117Ser) c.1375A>T (p.Thr459Ser) | |
| X | g.67711462C>A | CA413423078 | AR | c.*294C>A (n.*294C>A) c.1946C>A (p.Thr649Asn) c.573C>A (n.573C>A) c.350C>A (p.Thr117Asn) c.1376C>A (p.Thr459Asn) | dbSNP |
| X | g.67711462C>G | CA413423079 | AR | c.*294C>G (n.*294C>G) c.1946C>G (p.Thr649Ser) c.573C>G (n.573C>G) c.350C>G (p.Thr117Ser) c.1376C>G (p.Thr459Ser) | dbSNP |
| X | g.67711462C>T | CA413423077 | AR | c.*294C>T (n.*294C>T) c.1946C>T (p.Thr649Ile) c.573C>T (n.573C>T) c.350C>T (p.Thr117Ile) c.1376C>T (p.Thr459Ile) | |
| X | g.67711463C>A | CA517048173 | AR | c.*295C>A (n.*295C>A) c.1947C>A (p.Thr649=) c.574C>A (n.574C>A) c.351C>A (p.Thr117=) c.1377C>A (p.Thr459=) | dbSNP |
| X | g.67711463C>G | CA517048174 | AR | c.*295C>G (n.*295C>G) c.1947C>G (p.Thr649=) c.574C>G (n.574C>G) c.351C>G (p.Thr117=) c.1377C>G (p.Thr459=) | gnomAD v4 |
| X | g.67711463C>T | CA517048175 | AR | c.*295C>T (n.*295C>T) c.1947C>T (p.Thr649=) c.574C>T (n.574C>T) c.351C>T (p.Thr117=) c.1377C>T (p.Thr459=) | ClinVar dbSNP |
| X | g.67711464A= | CA2435130450 | AR | c.*296A= (n.*296A=) c.1948A= (p.Thr650=) c.575A= (n.575A=) c.352A= (p.Thr118=) c.1378A= (p.Thr460=) | |
| X | g.67711464A>C | CA413423080 | AR | c.*296A>C (n.*296A>C) c.1948A>C (p.Thr650Pro) c.575A>C (n.575A>C) c.352A>C (p.Thr118Pro) c.1378A>C (p.Thr460Pro) | dbSNP gnomAD v4 |
| X | g.67711464A>G | CA413423081 | AR | c.*296A>G (n.*296A>G) c.1948A>G (p.Thr650Ala) c.575A>G (n.575A>G) c.352A>G (p.Thr118Ala) c.1378A>G (p.Thr460Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711464A>T | CA413423082 | AR | c.*296A>T (n.*296A>T) c.1948A>T (p.Thr650Ser) c.575A>T (n.575A>T) c.352A>T (p.Thr118Ser) c.1378A>T (p.Thr460Ser) | dbSNP |
| X | g.67711465C>A | CA413423083 | AR | c.*297C>A (n.*297C>A) c.1949C>A (p.Thr650Asn) c.576C>A (n.576C>A) c.353C>A (p.Thr118Asn) c.1379C>A (p.Thr460Asn) | dbSNP |
| X | g.67711465C= | CA2435130451 | AR | c.*297C= (n.*297C=) c.1949C= (p.Thr650=) c.576C= (n.576C=) c.353C= (p.Thr118=) c.1379C= (p.Thr460=) | |
| X | g.67711465C>G | CA413423084 | AR | c.*297C>G (n.*297C>G) c.1949C>G (p.Thr650Ser) c.576C>G (n.576C>G) c.353C>G (p.Thr118Ser) c.1379C>G (p.Thr460Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711465C>T | CA413423085 | AR | c.*297C>T (n.*297C>T) c.1949C>T (p.Thr650Ile) c.576C>T (n.576C>T) c.353C>T (p.Thr118Ile) c.1379C>T (p.Thr460Ile) | |
| X | g.67711466C>A | CA517048177 | AR | c.*298C>A (n.*298C>A) c.1950C>A (p.Thr650=) c.577C>A (n.577C>A) c.354C>A (p.Thr118=) c.1380C>A (p.Thr460=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711466C>G | CA517048179 | AR | c.*298C>G (n.*298C>G) c.1950C>G (p.Thr650=) c.577C>G (n.577C>G) c.354C>G (p.Thr118=) c.1380C>G (p.Thr460=) | |
| X | g.67711466C>T | CA517048183 | AR | c.*298C>T (n.*298C>T) c.1950C>T (p.Thr650=) c.577C>T (n.577C>T) c.354C>T (p.Thr118=) c.1380C>T (p.Thr460=) | dbSNP gnomAD v4 COSMIC |
| X | g.67711467A>C | CA413423088 | AR | c.*299A>C (n.*299A>C) c.1951A>C (p.Ser651Arg) c.578A>C (n.578A>C) c.355A>C (p.Ser119Arg) c.1381A>C (p.Ser461Arg) | |
| X | g.67711467A>G | CA413423086 | AR | c.*299A>G (n.*299A>G) c.1951A>G (p.Ser651Gly) c.578A>G (n.578A>G) c.355A>G (p.Ser119Gly) c.1381A>G (p.Ser461Gly) | |
| X | g.67711467A>T | CA413423087 | AR | c.*299A>T (n.*299A>T) c.1951A>T (p.Ser651Cys) c.578A>T (n.578A>T) c.355A>T (p.Ser119Cys) c.1381A>T (p.Ser461Cys) | dbSNP |
| X | g.67711467_67711468delinsAG | CA2435130452 | AR | c.*299_*300delinsAG (n.*299_*300delinsAG) c.1951_1952delinsAG (p.Ser651=) c.578_579delinsAG (n.578_579delinsAG) c.355_356delinsAG (p.Ser119=) c.1381_1382delinsAG (p.Ser461=) | |
| X | g.67711468del | CA16621464 | AR | c.*300del (n.*300del) c.1952del (p.Ser651ThrfsTer10) c.579del (n.579del) c.356del (p.Ser119ThrfsTer10) c.1382del (p.Ser461ThrfsTer10) | ClinVar dbSNP |
| X | g.67711468G>A | CA413423089 | AR | c.*300G>A (n.*300G>A) c.1952G>A (p.Ser651Asn) c.579G>A (n.579G>A) c.356G>A (p.Ser119Asn) c.1382G>A (p.Ser461Asn) | |
| X | g.67711468G>C | CA413423090 | AR | c.*300G>C (n.*300G>C) c.1952G>C (p.Ser651Thr) c.579G>C (n.579G>C) c.356G>C (p.Ser119Thr) c.1382G>C (p.Ser461Thr) | |
| X | g.67711468G>T | CA413423091 | AR | c.*300G>T (n.*300G>T) c.1952G>T (p.Ser651Ile) c.579G>T (n.579G>T) c.356G>T (p.Ser119Ile) c.1382G>T (p.Ser461Ile) | |
| X | g.67711469C>A | CA413423092 | AR | c.*301C>A (n.*301C>A) c.1953C>A (p.Ser651Arg) c.580C>A (n.580C>A) c.357C>A (p.Ser119Arg) c.1383C>A (p.Ser461Arg) | dbSNP gnomAD v4 |
| X | g.67711469C>G | CA413423093 | AR | c.*301C>G (n.*301C>G) c.1953C>G (p.Ser651Arg) c.580C>G (n.580C>G) c.357C>G (p.Ser119Arg) c.1383C>G (p.Ser461Arg) | dbSNP |
| X | g.67711469C>T | CA517048187 | AR | c.*301C>T (n.*301C>T) c.1953C>T (p.Ser651=) c.580C>T (n.580C>T) c.357C>T (p.Ser119=) c.1383C>T (p.Ser461=) | dbSNP gnomAD v4 |
| X | g.67711472del | CA2738705618 | AR | c.*304del (n.*304del) c.1956del (p.Thr653LeufsTer8) c.583del (n.583del) c.360del (p.Thr121LeufsTer8) c.1386del (p.Thr463LeufsTer8) | dbSNP |
| X | g.67711470C>A | CA413423094 | AR | c.*302C>A (n.*302C>A) c.1954C>A (p.Pro652Thr) c.581C>A (n.581C>A) c.358C>A (p.Pro120Thr) c.1384C>A (p.Pro462Thr) | dbSNP |
| X | g.67711470C>G | CA413423096 | AR | c.*302C>G (n.*302C>G) c.1954C>G (p.Pro652Ala) c.581C>G (n.581C>G) c.358C>G (p.Pro120Ala) c.1384C>G (p.Pro462Ala) | dbSNP gnomAD v4 |
| X | g.67711470C>T | CA413423095 | AR | c.*302C>T (n.*302C>T) c.1954C>T (p.Pro652Ser) c.581C>T (n.581C>T) c.358C>T (p.Pro120Ser) c.1384C>T (p.Pro462Ser) | dbSNP gnomAD v4 |
| X | g.67711471C>A | CA413423097 | AR | c.*303C>A (n.*303C>A) c.1955C>A (p.Pro652His) c.582C>A (n.582C>A) c.359C>A (p.Pro120His) c.1385C>A (p.Pro462His) | dbSNP |
| X | g.67711471C>G | CA413423098 | AR | c.*303C>G (n.*303C>G) c.1955C>G (p.Pro652Arg) c.582C>G (n.582C>G) c.359C>G (p.Pro120Arg) c.1385C>G (p.Pro462Arg) | dbSNP |
| X | g.67711471C>T | CA413423099 | AR | c.*303C>T (n.*303C>T) c.1955C>T (p.Pro652Leu) c.582C>T (n.582C>T) c.359C>T (p.Pro120Leu) c.1385C>T (p.Pro462Leu) | dbSNP gnomAD v4 |
| X | g.67711472C>A | CA517048191 | AR | c.*304C>A (n.*304C>A) c.1956C>A (p.Pro652=) c.583C>A (n.583C>A) c.360C>A (p.Pro120=) c.1386C>A (p.Pro462=) | |
| X | g.67711472C>G | CA517048193 | AR | c.*304C>G (n.*304C>G) c.1956C>G (p.Pro652=) c.583C>G (n.583C>G) c.360C>G (p.Pro120=) c.1386C>G (p.Pro462=) | |
| X | g.67711472C>T | CA517048195 | AR | c.*304C>T (n.*304C>T) c.1956C>T (p.Pro652=) c.583C>T (n.583C>T) c.360C>T (p.Pro120=) c.1386C>T (p.Pro462=) | |
| X | g.67711473del | CA2695234356 | AR | c.*305del (n.*305del) c.1957del (p.Thr653LeufsTer8) c.584del (n.584del) c.361del (p.Thr121LeufsTer8) c.1387del (p.Thr463LeufsTer8) | |
| X | g.67711473A>C | CA413423100 | AR | c.*305A>C (n.*305A>C) c.1957A>C (p.Thr653Pro) c.584A>C (n.584A>C) c.361A>C (p.Thr121Pro) c.1387A>C (p.Thr463Pro) | |
| X | g.67711473A>G | CA413423101 | AR | c.*305A>G (n.*305A>G) c.1957A>G (p.Thr653Ala) c.584A>G (n.584A>G) c.361A>G (p.Thr121Ala) c.1387A>G (p.Thr463Ala) | |
| X | g.67711473A>T | CA413423102 | AR | c.*305A>T (n.*305A>T) c.1957A>T (p.Thr653Ser) c.584A>T (n.584A>T) c.361A>T (p.Thr121Ser) c.1387A>T (p.Thr463Ser) | gnomAD v4 |
| X | g.67711473dup | CA645603433 | AR | c.*305dup (n.*305dup) c.1957dup (p.Thr653AsnfsTer2) c.584dup (n.584dup) c.361dup (p.Thr121AsnfsTer2) c.1387dup (p.Thr463AsnfsTer2) | COSMIC COSMIC |
| X | g.67711474del | CA2695234357 | AR | c.*306del (n.*306del) c.1958del (p.Thr653MetfsTer8) c.585del (n.585del) c.362del (p.Thr121MetfsTer8) c.1388del (p.Thr463MetfsTer8) | |
| X | g.67711474C>A | CA413423103 | AR | c.*306C>A (n.*306C>A) c.1958C>A (p.Thr653Asn) c.585C>A (n.585C>A) c.362C>A (p.Thr121Asn) c.1388C>A (p.Thr463Asn) | dbSNP |
| X | g.67711474C>G | CA413423104 | AR | c.*306C>G (n.*306C>G) c.1958C>G (p.Thr653Ser) c.585C>G (n.585C>G) c.362C>G (p.Thr121Ser) c.1388C>G (p.Thr463Ser) | dbSNP |
| X | g.67711474C>T | CA413423105 | AR | c.*306C>T (n.*306C>T) c.1958C>T (p.Thr653Ile) c.585C>T (n.585C>T) c.362C>T (p.Thr121Ile) c.1388C>T (p.Thr463Ile) | dbSNP |
| X | g.67711475T>A | CA517048201 | AR | c.*307T>A (n.*307T>A) c.1959T>A (p.Thr653=) c.586T>A (n.586T>A) c.363T>A (p.Thr121=) c.1389T>A (p.Thr463=) | dbSNP |
| X | g.67711475T>C | CA517048202 | AR | c.*307T>C (n.*307T>C) c.1959T>C (p.Thr653=) c.586T>C (n.586T>C) c.363T>C (p.Thr121=) c.1389T>C (p.Thr463=) | dbSNP |
| X | g.67711475T>G | CA517048203 | AR | c.*307T>G (n.*307T>G) c.1959T>G (p.Thr653=) c.586T>G (n.586T>G) c.363T>G (p.Thr121=) c.1389T>G (p.Thr463=) | ClinVar dbSNP |
| X | g.67711475T= | CA2435130453 | AR | c.*307T= (n.*307T=) c.1959T= (p.Thr653=) c.586T= (n.586T=) c.363T= (p.Thr121=) c.1389T= (p.Thr463=) | |
| X | g.67711476G>A | CA10436556 | AR | c.*308G>A (n.*308G>A) c.1960G>A (p.Glu654Lys) c.587G>A (n.587G>A) c.364G>A (p.Glu122Lys) c.1390G>A (p.Glu464Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711476G>C | CA413423106 | AR | c.*308G>C (n.*308G>C) c.1960G>C (p.Glu654Gln) c.587G>C (n.587G>C) c.364G>C (p.Glu122Gln) c.1390G>C (p.Glu464Gln) | dbSNP |
| X | g.67711476G= | CA2435130454 | AR | c.*308G= (n.*308G=) c.1960G= (p.Glu654=) c.587G= (n.587G=) c.364G= (p.Glu122=) c.1390G= (p.Glu464=) | |
| X | g.67711476G>T | CA413423107 | AR | c.*308G>T (n.*308G>T) c.1960G>T (p.Glu654Ter) c.587G>T (n.587G>T) c.364G>T (p.Glu122Ter) c.1390G>T (p.Glu464Ter) | |
| X | g.67711477A= | CA2435130455 | AR | c.*309A= (n.*309A=) c.1961A= (p.Glu654=) c.588A= (n.588A=) c.365A= (p.Glu122=) c.1391A= (p.Glu464=) | |
| X | g.67711477A>C | CA413423109 | AR | c.*309A>C (n.*309A>C) c.1961A>C (p.Glu654Ala) c.588A>C (n.588A>C) c.365A>C (p.Glu122Ala) c.1391A>C (p.Glu464Ala) | |
| X | g.67711477A>G | CA413423110 | AR | c.*309A>G (n.*309A>G) c.1961A>G (p.Glu654Gly) c.588A>G (n.588A>G) c.365A>G (p.Glu122Gly) c.1391A>G (p.Glu464Gly) | dbSNP |
| X | g.67711477A>T | CA413423108 | AR | c.*309A>T (n.*309A>T) c.1961A>T (p.Glu654Val) c.588A>T (n.588A>T) c.365A>T (p.Glu122Val) c.1391A>T (p.Glu464Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711478G>A | CA517048208 | AR | c.*310G>A (n.*310G>A) c.1962G>A (p.Glu654=) c.589G>A (n.589G>A) c.366G>A (p.Glu122=) c.1392G>A (p.Glu464=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711478G>C | CA413423111 | AR | c.*310G>C (n.*310G>C) c.1962G>C (p.Glu654Asp) c.589G>C (n.589G>C) c.366G>C (p.Glu122Asp) c.1392G>C (p.Glu464Asp) | dbSNP |
| X | g.67711478G>T | CA413423112 | AR | c.*310G>T (n.*310G>T) c.1962G>T (p.Glu654Asp) c.589G>T (n.589G>T) c.366G>T (p.Glu122Asp) c.1392G>T (p.Glu464Asp) | dbSNP |
| X | g.67711479G>A | CA413423113 | AR | c.*311G>A (n.*311G>A) c.1963G>A (p.Glu655Lys) c.590G>A (n.590G>A) c.367G>A (p.Glu123Lys) c.1393G>A (p.Glu465Lys) | dbSNP |
| X | g.67711479G>C | CA413423114 | AR | c.*311G>C (n.*311G>C) c.1963G>C (p.Glu655Gln) c.590G>C (n.590G>C) c.367G>C (p.Glu123Gln) c.1393G>C (p.Glu465Gln) | dbSNP |
| X | g.67711479G>T | CA413423115 | AR | c.*311G>T (n.*311G>T) c.1963G>T (p.Glu655Ter) c.590G>T (n.590G>T) c.367G>T (p.Glu123Ter) c.1393G>T (p.Glu465Ter) | |
| X | g.67711480A>C | CA413423116 | AR | c.*312A>C (n.*312A>C) c.1964A>C (p.Glu655Ala) c.591A>C (n.591A>C) c.368A>C (p.Glu123Ala) c.1394A>C (p.Glu465Ala) | |
| X | g.67711480A>G | CA413423117 | AR | c.*312A>G (n.*312A>G) c.1964A>G (p.Glu655Gly) c.591A>G (n.591A>G) c.368A>G (p.Glu123Gly) c.1394A>G (p.Glu465Gly) | dbSNP |
| X | g.67711480A>T | CA413423118 | AR | c.*312A>T (n.*312A>T) c.1964A>T (p.Glu655Val) c.591A>T (n.591A>T) c.368A>T (p.Glu123Val) c.1394A>T (p.Glu465Val) | dbSNP |
| X | g.67711481G>A | CA10436557 | AR | c.*313G>A (n.*313G>A) c.1965G>A (p.Glu655=) c.592G>A (n.592G>A) c.369G>A (p.Glu123=) c.1395G>A (p.Glu465=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711481G>C | CA413423120 | AR | c.*313G>C (n.*313G>C) c.1965G>C (p.Glu655Asp) c.592G>C (n.592G>C) c.369G>C (p.Glu123Asp) c.1395G>C (p.Glu465Asp) | dbSNP |
| X | g.67711481G= | CA2435130456 | AR | c.*313G= (n.*313G=) c.1965G= (p.Glu655=) c.592G= (n.592G=) c.369G= (p.Glu123=) c.1395G= (p.Glu465=) | |
| X | g.67711481G>T | CA413423119 | AR | c.*313G>T (n.*313G>T) c.1965G>T (p.Glu655Asp) c.592G>T (n.592G>T) c.369G>T (p.Glu123Asp) c.1395G>T (p.Glu465Asp) | |
| X | g.67711482A>C | CA413423121 | AR | c.*314A>C (n.*314A>C) c.1966A>C (p.Thr656Pro) c.593A>C (n.593A>C) c.370A>C (p.Thr124Pro) c.1396A>C (p.Thr466Pro) | dbSNP |
| X | g.67711482A>G | CA413423122 | AR | c.*314A>G (n.*314A>G) c.1966A>G (p.Thr656Ala) c.593A>G (n.593A>G) c.370A>G (p.Thr124Ala) c.1396A>G (p.Thr466Ala) | dbSNP gnomAD v4 |
| X | g.67711482A>T | CA413423123 | AR | c.*314A>T (n.*314A>T) c.1966A>T (p.Thr656Ser) c.593A>T (n.593A>T) c.370A>T (p.Thr124Ser) c.1396A>T (p.Thr466Ser) | dbSNP |
| X | g.67711483C>A | CA413423124 | AR | c.*315C>A (n.*315C>A) c.1967C>A (p.Thr656Lys) c.594C>A (n.594C>A) c.371C>A (p.Thr124Lys) c.1397C>A (p.Thr466Lys) | |
| X | g.67711483C= | CA2435130457 | AR | c.*315C= (n.*315C=) c.1967C= (p.Thr656=) c.594C= (n.594C=) c.371C= (p.Thr124=) c.1397C= (p.Thr466=) | |
| X | g.67711483C>G | CA10436558 | AR | c.*315C>G (n.*315C>G) c.1967C>G (p.Thr656Arg) c.594C>G (n.594C>G) c.371C>G (p.Thr124Arg) c.1397C>G (p.Thr466Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711483C>T | CA413423125 | AR | c.*315C>T (n.*315C>T) c.1967C>T (p.Thr656Ile) c.594C>T (n.594C>T) c.371C>T (p.Thr124Ile) c.1397C>T (p.Thr466Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711484A= | CA2435130458 | AR | c.*316A= (n.*316A=) c.1968A= (p.Thr656=) c.595A= (n.595A=) c.372A= (p.Thr124=) c.1398A= (p.Thr466=) | |
| X | g.67711484A>C | CA517048219 | AR | c.*316A>C (n.*316A>C) c.1968A>C (p.Thr656=) c.595A>C (n.595A>C) c.372A>C (p.Thr124=) c.1398A>C (p.Thr466=) | |
| X | g.67711484A>G | CA517048220 | AR | c.*316A>G (n.*316A>G) c.1968A>G (p.Thr656=) c.595A>G (n.595A>G) c.372A>G (p.Thr124=) c.1398A>G (p.Thr466=) | dbSNP |
| X | g.67711484A>T | CA517048221 | AR | c.*316A>T (n.*316A>T) c.1968A>T (p.Thr656=) c.595A>T (n.595A>T) c.372A>T (p.Thr124=) c.1398A>T (p.Thr466=) | dbSNP |
| X | g.67711485A= | CA2435130459 | AR | c.*317A= (n.*317A=) c.1969A= (p.Thr657=) c.596A= (n.596A=) c.373A= (p.Thr125=) c.1399A= (p.Thr467=) | |
| X | g.67711485A>C | CA413423126 | AR | c.*317A>C (n.*317A>C) c.1969A>C (p.Thr657Pro) c.596A>C (n.596A>C) c.373A>C (p.Thr125Pro) c.1399A>C (p.Thr467Pro) | |
| X | g.67711485A>G | CA330771340 | AR | c.*317A>G (n.*317A>G) c.1969A>G (p.Thr657Ala) c.596A>G (n.596A>G) c.373A>G (p.Thr125Ala) c.1399A>G (p.Thr467Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711485A>T | CA413423127 | AR | c.*317A>T (n.*317A>T) c.1969A>T (p.Thr657Ser) c.596A>T (n.596A>T) c.373A>T (p.Thr125Ser) c.1399A>T (p.Thr467Ser) | |
| X | g.67711486C>A | CA413423128 | AR | c.*318C>A (n.*318C>A) c.1970C>A (p.Thr657Asn) c.597C>A (n.597C>A) c.374C>A (p.Thr125Asn) c.1400C>A (p.Thr467Asn) | dbSNP |
| X | g.67711486C= | CA2435130460 | AR | c.*318C= (n.*318C=) c.1970C= (p.Thr657=) c.597C= (n.597C=) c.374C= (p.Thr125=) c.1400C= (p.Thr467=) | |
| X | g.67711486C>G | CA413423129 | AR | c.*318C>G (n.*318C>G) c.1970C>G (p.Thr657Ser) c.597C>G (n.597C>G) c.374C>G (p.Thr125Ser) c.1400C>G (p.Thr467Ser) | dbSNP gnomAD v4 |
| X | g.67711486C>T | CA413423130 | AR | c.*318C>T (n.*318C>T) c.1970C>T (p.Thr657Ile) c.597C>T (n.597C>T) c.374C>T (p.Thr125Ile) c.1400C>T (p.Thr467Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711487C>A | CA517048226 | AR | c.*319C>A (n.*319C>A) c.1971C>A (p.Thr657=) c.598C>A (n.598C>A) c.375C>A (p.Thr125=) c.1401C>A (p.Thr467=) | |
| X | g.67711487C= | CA2435130461 | AR | c.*319C= (n.*319C=) c.1971C= (p.Thr657=) c.598C= (n.598C=) c.375C= (p.Thr125=) c.1401C= (p.Thr467=) | |
| X | g.67711487C>G | CA517048227 | AR | c.*319C>G (n.*319C>G) c.1971C>G (p.Thr657=) c.598C>G (n.598C>G) c.375C>G (p.Thr125=) c.1401C>G (p.Thr467=) | gnomAD v4 |
| X | g.67711487C>T | CA10436559 | AR | c.*319C>T (n.*319C>T) c.1971C>T (p.Thr657=) c.598C>T (n.598C>T) c.375C>T (p.Thr125=) c.1401C>T (p.Thr467=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711488C>A | CA413423131 | AR | c.*320C>A (n.*320C>A) c.1972C>A (p.Gln658Lys) c.599C>A (n.599C>A) c.376C>A (p.Gln126Lys) c.1402C>A (p.Gln468Lys) | dbSNP |
| X | g.67711488C>G | CA413423133 | AR | c.*320C>G (n.*320C>G) c.1972C>G (p.Gln658Glu) c.599C>G (n.599C>G) c.376C>G (p.Gln126Glu) c.1402C>G (p.Gln468Glu) | dbSNP |
| X | g.67711488C>T | CA413423135 | AR | c.*320C>T (n.*320C>T) c.1972C>T (p.Gln658Ter) c.599C>T (n.599C>T) c.376C>T (p.Gln126Ter) c.1402C>T (p.Gln468Ter) | ClinVar dbSNP |
| X | g.67711489A>C | CA413423136 | AR | c.*321A>C (n.*321A>C) c.1973A>C (p.Gln658Pro) c.600A>C (n.600A>C) c.377A>C (p.Gln126Pro) c.1403A>C (p.Gln468Pro) | |
| X | g.67711489A>G | CA413423137 | AR | c.*321A>G (n.*321A>G) c.1973A>G (p.Gln658Arg) c.600A>G (n.600A>G) c.377A>G (p.Gln126Arg) c.1403A>G (p.Gln468Arg) | |
| X | g.67711489A>T | CA413423138 | AR | c.*321A>T (n.*321A>T) c.1973A>T (p.Gln658Leu) c.600A>T (n.600A>T) c.377A>T (p.Gln126Leu) c.1403A>T (p.Gln468Leu) | dbSNP |
| X | g.67711490G>A | CA517048231 | AR | c.*322G>A (n.*322G>A) c.1974G>A (p.Gln658=) c.601G>A (n.601G>A) c.378G>A (p.Gln126=) c.1404G>A (p.Gln468=) | dbSNP gnomAD v4 |
| X | g.67711490G>C | CA413423139 | AR | c.*322G>C (n.*322G>C) c.1974G>C (p.Gln658His) c.601G>C (n.601G>C) c.378G>C (p.Gln126His) c.1404G>C (p.Gln468His) | dbSNP |
| X | g.67711490G= | CA2435130462 | AR | c.*322G= (n.*322G=) c.1974G= (p.Gln658=) c.601G= (n.601G=) c.378G= (p.Gln126=) c.1404G= (p.Gln468=) | |
| X | g.67711490G>T | CA413423140 | AR | c.*322G>T (n.*322G>T) c.1974G>T (p.Gln658His) c.601G>T (n.601G>T) c.378G>T (p.Gln126His) c.1404G>T (p.Gln468His) | dbSNP |
| X | g.67711491A>C | CA413423143 | AR | c.*323A>C (n.*323A>C) c.1975A>C (p.Lys659Gln) c.602A>C (n.602A>C) c.379A>C (p.Lys127Gln) c.1405A>C (p.Lys469Gln) | |
| X | g.67711491A>G | CA413423141 | AR | c.*323A>G (n.*323A>G) c.1975A>G (p.Lys659Glu) c.602A>G (n.602A>G) c.379A>G (p.Lys127Glu) c.1405A>G (p.Lys469Glu) | |
| X | g.67711491A>T | CA413423142 | AR | c.*323A>T (n.*323A>T) c.1975A>T (p.Lys659Ter) c.602A>T (n.602A>T) c.379A>T (p.Lys127Ter) c.1405A>T (p.Lys469Ter) | dbSNP |
| X | g.67711491_67711492insTTTTTCAT | CA2525450713 | AR | c.*323_*324insTTTTTCAT (n.*323_*324insTTTTTCAT) c.1975_1976insTTTTTCAT (p.Lys659IlefsTer5) c.602_603insTTTTTCAT (n.602_603insTTTTTCAT) c.379_380insTTTTTCAT (p.Lys127IlefsTer5) c.1405_1406insTTTTTCAT (p.Lys469IlefsTer5) | |
| X | g.67711492A= | CA2435130463 | AR | c.*324A= (n.*324A=) c.1976A= (p.Lys659=) c.603A= (n.603A=) c.380A= (p.Lys127=) c.1406A= (p.Lys469=) | |
| X | g.67711492A>C | CA413423144 | AR | c.*324A>C (n.*324A>C) c.1976A>C (p.Lys659Thr) c.603A>C (n.603A>C) c.380A>C (p.Lys127Thr) c.1406A>C (p.Lys469Thr) | |
| X | g.67711492A>G | CA330771341 | AR | c.*324A>G (n.*324A>G) c.1976A>G (p.Lys659Arg) c.603A>G (n.603A>G) c.380A>G (p.Lys127Arg) c.1406A>G (p.Lys469Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711492A>T | CA413423145 | AR | c.*324A>T (n.*324A>T) c.1976A>T (p.Lys659Met) c.603A>T (n.603A>T) c.380A>T (p.Lys127Met) c.1406A>T (p.Lys469Met) | dbSNP |
| X | g.67711493G>A | CA517048239 | AR | c.*325G>A (n.*325G>A) c.1977G>A (p.Lys659=) c.604G>A (n.604G>A) c.381G>A (p.Lys127=) c.1407G>A (p.Lys469=) | ClinVar dbSNP |
| X | g.67711493G>C | CA413423146 | AR | c.*325G>C (n.*325G>C) c.1977G>C (p.Lys659Asn) c.604G>C (n.604G>C) c.381G>C (p.Lys127Asn) c.1407G>C (p.Lys469Asn) | dbSNP |
| X | g.67711493G>T | CA413423147 | AR | c.*325G>T (n.*325G>T) c.1977G>T (p.Lys659Asn) c.604G>T (n.604G>T) c.381G>T (p.Lys127Asn) c.1407G>T (p.Lys469Asn) | |
| X | g.67711494C>A | CA413423148 | AR | c.*326C>A (n.*326C>A) c.1978C>A (p.Leu660Met) c.605C>A (n.605C>A) c.382C>A (p.Leu128Met) c.1408C>A (p.Leu470Met) | dbSNP |
| X | g.67711494C>G | CA413423149 | AR | c.*326C>G (n.*326C>G) c.1978C>G (p.Leu660Val) c.605C>G (n.605C>G) c.382C>G (p.Leu128Val) c.1408C>G (p.Leu470Val) | dbSNP |
| X | g.67711494C>T | CA517048246 | AR | c.*326C>T (n.*326C>T) c.1978C>T (p.Leu660=) c.605C>T (n.605C>T) c.382C>T (p.Leu128=) c.1408C>T (p.Leu470=) | |
| X | g.67711495T>A | CA413423150 | AR | c.*327T>A (n.*327T>A) c.1979T>A (p.Leu660Gln) c.606T>A (n.606T>A) c.383T>A (p.Leu128Gln) c.1409T>A (p.Leu470Gln) | dbSNP |
| X | g.67711495T>C | CA10436560 | AR | c.*327T>C (n.*327T>C) c.1979T>C (p.Leu660Pro) c.606T>C (n.606T>C) c.383T>C (p.Leu128Pro) c.1409T>C (p.Leu470Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711495T>G | CA413423151 | AR | c.*327T>G (n.*327T>G) c.1979T>G (p.Leu660Arg) c.606T>G (n.606T>G) c.383T>G (p.Leu128Arg) c.1409T>G (p.Leu470Arg) | dbSNP |
| X | g.67711495T= | CA2435130464 | AR | c.*327T= (n.*327T=) c.1979T= (p.Leu660=) c.606T= (n.606T=) c.383T= (p.Leu128=) c.1409T= (p.Leu470=) | |
| X | g.67711496G>A | CA330771342 | AR | c.*328G>A (n.*328G>A) c.1980G>A (p.Leu660=) c.607G>A (n.607G>A) c.384G>A (p.Leu128=) c.1410G>A (p.Leu470=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711496G>C | CA517048249 | AR | c.*328G>C (n.*328G>C) c.1980G>C (p.Leu660=) c.607G>C (n.607G>C) c.384G>C (p.Leu128=) c.1410G>C (p.Leu470=) | dbSNP |
| X | g.67711496G= | CA2435130465 | AR | c.*328G= (n.*328G=) c.1980G= (p.Leu660=) c.607G= (n.607G=) c.384G= (p.Leu128=) c.1410G= (p.Leu470=) | |
| X | g.67711496G>T | CA517048247 | AR | c.*328G>T (n.*328G>T) c.1980G>T (p.Leu660=) c.607G>T (n.607G>T) c.384G>T (p.Leu128=) c.1410G>T (p.Leu470=) | dbSNP gnomAD v4 |
| X | g.67711497A>C | CA413423152 | AR | c.*329A>C (n.*329A>C) c.1981A>C (p.Thr661Pro) c.608A>C (n.608A>C) c.385A>C (p.Thr129Pro) c.1411A>C (p.Thr471Pro) | dbSNP |
| X | g.67711497A>G | CA413423153 | AR | c.*329A>G (n.*329A>G) c.1981A>G (p.Thr661Ala) c.608A>G (n.608A>G) c.385A>G (p.Thr129Ala) c.1411A>G (p.Thr471Ala) | dbSNP |
| X | g.67711497A>T | CA413423154 | AR | c.*329A>T (n.*329A>T) c.1981A>T (p.Thr661Ser) c.608A>T (n.608A>T) c.385A>T (p.Thr129Ser) c.1411A>T (p.Thr471Ser) | dbSNP |
| X | g.67711498C>A | CA413423157 | AR | c.*330C>A (n.*330C>A) c.1982C>A (p.Thr661Lys) c.609C>A (n.609C>A) c.386C>A (p.Thr129Lys) c.1412C>A (p.Thr471Lys) | dbSNP gnomAD v4 |
| X | g.67711498C= | CA2435130466 | AR | c.*330C= (n.*330C=) c.1982C= (p.Thr661=) c.609C= (n.609C=) c.386C= (p.Thr129=) c.1412C= (p.Thr471=) | |
| X | g.67711498C>G | CA413423156 | AR | c.*330C>G (n.*330C>G) c.1982C>G (p.Thr661Arg) c.609C>G (n.609C>G) c.386C>G (p.Thr129Arg) c.1412C>G (p.Thr471Arg) | dbSNP |
| X | g.67711498C>T | CA413423155 | AR | c.*330C>T (n.*330C>T) c.1982C>T (p.Thr661Ile) c.609C>T (n.609C>T) c.386C>T (p.Thr129Ile) c.1412C>T (p.Thr471Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711499A= | CA2435130467 | AR | c.*331A= (n.*331A=) c.1983A= (p.Thr661=) c.610A= (n.610A=) c.387A= (p.Thr129=) c.1413A= (p.Thr471=) | |
| X | g.67711499A>C | CA517048256 | AR | c.*331A>C (n.*331A>C) c.1983A>C (p.Thr661=) c.610A>C (n.610A>C) c.387A>C (p.Thr129=) c.1413A>C (p.Thr471=) | |
| X | g.67711499A>G | CA10436561 | AR | c.*331A>G (n.*331A>G) c.1983A>G (p.Thr661=) c.610A>G (n.610A>G) c.387A>G (p.Thr129=) c.1413A>G (p.Thr471=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711499A>T | CA517048257 | AR | c.*331A>T (n.*331A>T) c.1983A>T (p.Thr661=) c.610A>T (n.610A>T) c.387A>T (p.Thr129=) c.1413A>T (p.Thr471=) | dbSNP |
| X | g.67711500G>A | CA413423158 | AR | c.*332G>A (n.*332G>A) c.1984G>A (p.Val662Met) c.611G>A (n.611G>A) c.388G>A (p.Val130Met) c.1414G>A (p.Val472Met) | dbSNP |
| X | g.67711500G>C | CA413423159 | AR | c.*332G>C (n.*332G>C) c.1984G>C (p.Val662Leu) c.611G>C (n.611G>C) c.388G>C (p.Val130Leu) c.1414G>C (p.Val472Leu) | dbSNP |
| X | g.67711500G>T | CA413423160 | AR | c.*332G>T (n.*332G>T) c.1984G>T (p.Val662Leu) c.611G>T (n.611G>T) c.388G>T (p.Val130Leu) c.1414G>T (p.Val472Leu) | COSMIC COSMIC |
| X | g.67711501T>A | CA413423161 | AR | c.*333T>A (n.*333T>A) c.1985T>A (p.Val662Glu) c.612T>A (n.612T>A) c.389T>A (p.Val130Glu) c.1415T>A (p.Val472Glu) | dbSNP |
| X | g.67711501T>C | CA413423162 | AR | c.*333T>C (n.*333T>C) c.1985T>C (p.Val662Ala) c.612T>C (n.612T>C) c.389T>C (p.Val130Ala) c.1415T>C (p.Val472Ala) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711501T>G | CA413423163 | AR | c.*333T>G (n.*333T>G) c.1985T>G (p.Val662Gly) c.612T>G (n.612T>G) c.389T>G (p.Val130Gly) c.1415T>G (p.Val472Gly) | dbSNP |
| X | g.67711502G>A | CA517048262 | AR | c.*334G>A (n.*334G>A) c.1986G>A (p.Val662=) c.613G>A (n.613G>A) c.390G>A (p.Val130=) c.1416G>A (p.Val472=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711502G>C | CA517048263 | AR | c.*334G>C (n.*334G>C) c.1986G>C (p.Val662=) c.613G>C (n.613G>C) c.390G>C (p.Val130=) c.1416G>C (p.Val472=) | dbSNP |
| X | g.67711502G= | CA2435130468 | AR | c.*334G= (n.*334G=) c.1986G= (p.Val662=) c.613G= (n.613G=) c.390G= (p.Val130=) c.1416G= (p.Val472=) | |
| X | g.67711502G>T | CA517048264 | AR | c.*334G>T (n.*334G>T) c.1986G>T (p.Val662=) c.613G>T (n.613G>T) c.390G>T (p.Val130=) c.1416G>T (p.Val472=) | |
| X | g.67711503T>A | CA413423164 | AR | c.*335T>A (n.*335T>A) c.1987T>A (p.Ser663Thr) c.614T>A (n.614T>A) c.391T>A (p.Ser131Thr) c.1417T>A (p.Ser473Thr) | |
| X | g.67711503T>C | CA413423165 | AR | c.*335T>C (n.*335T>C) c.1987T>C (p.Ser663Pro) c.614T>C (n.614T>C) c.391T>C (p.Ser131Pro) c.1417T>C (p.Ser473Pro) | |
| X | g.67711503T>G | CA413423166 | AR | c.*335T>G (n.*335T>G) c.1987T>G (p.Ser663Ala) c.614T>G (n.614T>G) c.391T>G (p.Ser131Ala) c.1417T>G (p.Ser473Ala) | dbSNP |
| X | g.67711504C>A | CA413423167 | AR | c.*336C>A (n.*336C>A) c.1988C>A (p.Ser663Ter) c.615C>A (n.615C>A) c.392C>A (p.Ser131Ter) c.1418C>A (p.Ser473Ter) | dbSNP |
| X | g.67711504C>G | CA413423168 | AR | c.*336C>G (n.*336C>G) c.1988C>G (p.Ser663Ter) c.615C>G (n.615C>G) c.392C>G (p.Ser131Ter) c.1418C>G (p.Ser473Ter) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711504C>T | CA413423169 | AR | c.*336C>T (n.*336C>T) c.1988C>T (p.Ser663Leu) c.615C>T (n.615C>T) c.392C>T (p.Ser131Leu) c.1418C>T (p.Ser473Leu) | dbSNP |
| X | g.67711505A>C | CA517048266 | AR | c.*337A>C (n.*337A>C) c.1989A>C (p.Ser663=) c.616A>C (n.616A>C) c.393A>C (p.Ser131=) c.1419A>C (p.Ser473=) | dbSNP |
| X | g.67711505A>G | CA517048267 | AR | c.*337A>G (n.*337A>G) c.1989A>G (p.Ser663=) c.616A>G (n.616A>G) c.393A>G (p.Ser131=) c.1419A>G (p.Ser473=) | dbSNP |
| X | g.67711505A>T | CA517048268 | AR | c.*337A>T (n.*337A>T) c.1989A>T (p.Ser663=) c.616A>T (n.616A>T) c.393A>T (p.Ser131=) c.1419A>T (p.Ser473=) | dbSNP |
| X | g.67711506C>A | CA413423171 | AR | c.*338C>A (n.*338C>A) c.1990C>A (p.His664Asn) c.617C>A (n.617C>A) c.394C>A (p.His132Asn) c.1420C>A (p.His474Asn) | dbSNP |
| X | g.67711506C= | CA2435130469 | AR | c.*338C= (n.*338C=) c.1990C= (p.His664=) c.617C= (n.617C=) c.394C= (p.His132=) c.1420C= (p.His474=) | |
| X | g.67711506C>G | CA413423172 | AR | c.*338C>G (n.*338C>G) c.1990C>G (p.His664Asp) c.617C>G (n.617C>G) c.394C>G (p.His132Asp) c.1420C>G (p.His474Asp) | dbSNP |
| X | g.67711506C>T | CA413423170 | AR | c.*338C>T (n.*338C>T) c.1990C>T (p.His664Tyr) c.617C>T (n.617C>T) c.394C>T (p.His132Tyr) c.1420C>T (p.His474Tyr) | dbSNP |
| X | g.67711507A>C | CA413423173 | AR | c.*339A>C (n.*339A>C) c.1991A>C (p.His664Pro) c.618A>C (n.618A>C) c.395A>C (p.His132Pro) c.1421A>C (p.His474Pro) | |
| X | g.67711507A>G | CA413423174 | AR | c.*339A>G (n.*339A>G) c.1991A>G (p.His664Arg) c.618A>G (n.618A>G) c.395A>G (p.His132Arg) c.1421A>G (p.His474Arg) | dbSNP |
| X | g.67711507A>T | CA413423175 | AR | c.*339A>T (n.*339A>T) c.1991A>T (p.His664Leu) c.618A>T (n.618A>T) c.395A>T (p.His132Leu) c.1421A>T (p.His474Leu) | dbSNP |
| X | g.67711508C>A | CA413423176 | AR | c.*340C>A (n.*340C>A) c.1992C>A (p.His664Gln) c.619C>A (n.619C>A) c.396C>A (p.His132Gln) c.1422C>A (p.His474Gln) | |
| X | g.67711508C>G | CA413423177 | AR | c.*340C>G (n.*340C>G) c.1992C>G (p.His664Gln) c.619C>G (n.619C>G) c.396C>G (p.His132Gln) c.1422C>G (p.His474Gln) | dbSNP |
| X | g.67711508C>T | CA517048274 | AR | c.*340C>T (n.*340C>T) c.1992C>T (p.His664=) c.619C>T (n.619C>T) c.396C>T (p.His132=) c.1422C>T (p.His474=) | dbSNP |
| X | g.67711509A>C | CA413423178 | AR | c.*341A>C (n.*341A>C) c.1993A>C (p.Ile665Leu) c.620A>C (n.620A>C) c.397A>C (p.Ile133Leu) c.1423A>C (p.Ile475Leu) | gnomAD v4 |
| X | g.67711509A>G | CA413423179 | AR | c.*341A>G (n.*341A>G) c.1993A>G (p.Ile665Val) c.620A>G (n.620A>G) c.397A>G (p.Ile133Val) c.1423A>G (p.Ile475Val) | |
| X | g.67711509A>T | CA413423180 | AR | c.*341A>T (n.*341A>T) c.1993A>T (p.Ile665Phe) c.620A>T (n.620A>T) c.397A>T (p.Ile133Phe) c.1423A>T (p.Ile475Phe) | |
| X | g.67711510T>A | CA413423181 | AR | c.*342T>A (n.*342T>A) c.1994T>A (p.Ile665Asn) c.621T>A (n.621T>A) c.398T>A (p.Ile133Asn) c.1424T>A (p.Ile475Asn) | dbSNP |
| X | g.67711510T>C | CA330771343 | AR | c.*342T>C (n.*342T>C) c.1994T>C (p.Ile665Thr) c.621T>C (n.621T>C) c.398T>C (p.Ile133Thr) c.1424T>C (p.Ile475Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.67711510T>G | CA413423182 | AR | c.*342T>G (n.*342T>G) c.1994T>G (p.Ile665Ser) c.621T>G (n.621T>G) c.398T>G (p.Ile133Ser) c.1424T>G (p.Ile475Ser) | dbSNP |
| X | g.67711510T= | CA2435130470 | AR | c.*342T= (n.*342T=) c.1994T= (p.Ile665=) c.621T= (n.621T=) c.398T= (p.Ile133=) c.1424T= (p.Ile475=) | |
| X | g.67711511T>A | CA517048276 | AR | c.*343T>A (n.*343T>A) c.1995T>A (p.Ile665=) c.622T>A (n.622T>A) c.399T>A (p.Ile133=) c.1425T>A (p.Ile475=) | dbSNP |
| X | g.67711511T>C | CA517048277 | AR | c.*343T>C (n.*343T>C) c.1995T>C (p.Ile665=) c.622T>C (n.622T>C) c.399T>C (p.Ile133=) c.1425T>C (p.Ile475=) | |
| X | g.67711511T>G | CA413423183 | AR | c.*343T>G (n.*343T>G) c.1995T>G (p.Ile665Met) c.622T>G (n.622T>G) c.399T>G (p.Ile133Met) c.1425T>G (p.Ile475Met) | |
| X | g.67711511_67711527delinsCAGAA | CA2695234358 | AR | c.*343_*359delinsCAGAA (n.*343_*359delinsCAGAA) c.1995_2011delinsCAGAA (p.Glu666_Gln671delinsArgLys) c.622_638delinsCAGAA (n.622_638delinsCAGAA) c.399_415delinsCAGAA (p.Glu134_Gln139delinsArgLys) c.1425_1441delinsCAGAA (p.Glu476_Gln481delinsArgLys) | |
| X | g.67711512G>A | CA413423184 | AR | c.*344G>A (n.*344G>A) c.1996G>A (p.Glu666Lys) c.623G>A (n.623G>A) c.400G>A (p.Glu134Lys) c.1426G>A (p.Glu476Lys) | dbSNP |
| X | g.67711512G>C | CA413423185 | AR | c.*344G>C (n.*344G>C) c.1996G>C (p.Glu666Gln) c.623G>C (n.623G>C) c.400G>C (p.Glu134Gln) c.1426G>C (p.Glu476Gln) | |
| X | g.67711512G>T | CA413423186 | AR | c.*344G>T (n.*344G>T) c.1996G>T (p.Glu666Ter) c.623G>T (n.623G>T) c.400G>T (p.Glu134Ter) c.1426G>T (p.Glu476Ter) | |
| X | g.67711513A= | CA2435130471 | AR | c.*345A= (n.*345A=) c.1997A= (p.Glu666=) c.624A= (n.624A=) c.401A= (p.Glu134=) c.1427A= (p.Glu476=) | |
| X | g.67711513A>C | CA413423187 | AR | c.*345A>C (n.*345A>C) c.1997A>C (p.Glu666Ala) c.624A>C (n.624A>C) c.401A>C (p.Glu134Ala) c.1427A>C (p.Glu476Ala) | dbSNP |
| X | g.67711513A>G | CA413423189 | AR | c.*345A>G (n.*345A>G) c.1997A>G (p.Glu666Gly) c.624A>G (n.624A>G) c.401A>G (p.Glu134Gly) c.1427A>G (p.Glu476Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711513A>T | CA413423188 | AR | c.*345A>T (n.*345A>T) c.1997A>T (p.Glu666Val) c.624A>T (n.624A>T) c.401A>T (p.Glu134Val) c.1427A>T (p.Glu476Val) | dbSNP |
| X | g.67711514A>C | CA413423190 | AR | c.*346A>C (n.*346A>C) c.1998A>C (p.Glu666Asp) c.625A>C (n.625A>C) c.402A>C (p.Glu134Asp) c.1428A>C (p.Glu476Asp) | |
| X | g.67711514A>G | CA517048280 | AR | c.*346A>G (n.*346A>G) c.1998A>G (p.Glu666=) c.625A>G (n.625A>G) c.402A>G (p.Glu134=) c.1428A>G (p.Glu476=) | |
| X | g.67711514A>T | CA413423191 | AR | c.*346A>T (n.*346A>T) c.1998A>T (p.Glu666Asp) c.625A>T (n.625A>T) c.402A>T (p.Glu134Asp) c.1428A>T (p.Glu476Asp) | |
| X | g.67711515G>A | CA10436562 | AR | c.*347G>A (n.*347G>A) c.1999G>A (p.Gly667Ser) c.626G>A (n.626G>A) c.403G>A (p.Gly135Ser) c.1429G>A (p.Gly477Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711515G>C | CA413423192 | AR | c.*347G>C (n.*347G>C) c.1999G>C (p.Gly667Arg) c.626G>C (n.626G>C) c.403G>C (p.Gly135Arg) c.1429G>C (p.Gly477Arg) | dbSNP |
| X | g.67711515G= | CA2435130472 | AR | c.*347G= (n.*347G=) c.1999G= (p.Gly667=) c.626G= (n.626G=) c.403G= (p.Gly135=) c.1429G= (p.Gly477=) | |
| X | g.67711515G>T | CA413423193 | AR | c.*347G>T (n.*347G>T) c.1999G>T (p.Gly667Cys) c.626G>T (n.626G>T) c.403G>T (p.Gly135Cys) c.1429G>T (p.Gly477Cys) | dbSNP |
| X | g.67711516G>A | CA10436563 | AR | c.*348G>A (n.*348G>A) c.2000G>A (p.Gly667Asp) c.627G>A (n.627G>A) c.404G>A (p.Gly135Asp) c.1430G>A (p.Gly477Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711516G>C | CA413423194 | AR | c.*348G>C (n.*348G>C) c.2000G>C (p.Gly667Ala) c.627G>C (n.627G>C) c.404G>C (p.Gly135Ala) c.1430G>C (p.Gly477Ala) | |
| X | g.67711516G= | CA2435130473 | AR | c.*348G= (n.*348G=) c.2000G= (p.Gly667=) c.627G= (n.627G=) c.404G= (p.Gly135=) c.1430G= (p.Gly477=) | |
| X | g.67711516G>T | CA10436564 | AR | c.*348G>T (n.*348G>T) c.2000G>T (p.Gly667Val) c.627G>T (n.627G>T) c.404G>T (p.Gly135Val) c.1430G>T (p.Gly477Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711517C>A | CA517048286 | AR | c.*349C>A (n.*349C>A) c.2001C>A (p.Gly667=) c.628C>A (n.628C>A) c.405C>A (p.Gly135=) c.1431C>A (p.Gly477=) | dbSNP |
| X | g.67711517C>G | CA517048287 | AR | c.*349C>G (n.*349C>G) c.2001C>G (p.Gly667=) c.628C>G (n.628C>G) c.405C>G (p.Gly135=) c.1431C>G (p.Gly477=) | dbSNP |
| X | g.67711517C>T | CA517048288 | AR | c.*349C>T (n.*349C>T) c.2001C>T (p.Gly667=) c.628C>T (n.628C>T) c.405C>T (p.Gly135=) c.1431C>T (p.Gly477=) | dbSNP |
| X | g.67711518T>A | CA413423195 | AR | c.*350T>A (n.*350T>A) c.2002T>A (p.Tyr668Asn) c.629T>A (n.629T>A) c.406T>A (p.Tyr136Asn) c.1432T>A (p.Tyr478Asn) | dbSNP |
| X | g.67711518T>C | CA413423196 | AR | c.*350T>C (n.*350T>C) c.2002T>C (p.Tyr668His) c.629T>C (n.629T>C) c.406T>C (p.Tyr136His) c.1432T>C (p.Tyr478His) | dbSNP |
| X | g.67711518T>G | CA413423197 | AR | c.*350T>G (n.*350T>G) c.2002T>G (p.Tyr668Asp) c.629T>G (n.629T>G) c.406T>G (p.Tyr136Asp) c.1432T>G (p.Tyr478Asp) | |
| X | g.67711519A= | CA2435130474 | AR | c.*351A= (n.*351A=) c.2003A= (p.Tyr668=) c.630A= (n.630A=) c.407A= (p.Tyr136=) c.1433A= (p.Tyr478=) | |
| X | g.67711519A>C | CA413423198 | AR | c.*351A>C (n.*351A>C) c.2003A>C (p.Tyr668Ser) c.630A>C (n.630A>C) c.407A>C (p.Tyr136Ser) c.1433A>C (p.Tyr478Ser) | |
| X | g.67711519A>G | CA10436565 | AR | c.*351A>G (n.*351A>G) c.2003A>G (p.Tyr668Cys) c.630A>G (n.630A>G) c.407A>G (p.Tyr136Cys) c.1433A>G (p.Tyr478Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711519A>T | CA413423199 | AR | c.*351A>T (n.*351A>T) c.2003A>T (p.Tyr668Phe) c.630A>T (n.630A>T) c.407A>T (p.Tyr136Phe) c.1433A>T (p.Tyr478Phe) | dbSNP |
| X | g.67711520T>A | CA413423200 | AR | c.*352T>A (n.*352T>A) c.2004T>A (p.Tyr668Ter) c.631T>A (n.631T>A) c.408T>A (p.Tyr136Ter) c.1434T>A (p.Tyr478Ter) | dbSNP |
| X | g.67711520T>C | CA517048294 | AR | c.*352T>C (n.*352T>C) c.2004T>C (p.Tyr668=) c.631T>C (n.631T>C) c.408T>C (p.Tyr136=) c.1434T>C (p.Tyr478=) | dbSNP |
| X | g.67711520T>G | CA413423201 | AR | c.*352T>G (n.*352T>G) c.2004T>G (p.Tyr668Ter) c.631T>G (n.631T>G) c.408T>G (p.Tyr136Ter) c.1434T>G (p.Tyr478Ter) | dbSNP |
| X | g.67711521G>A | CA413423202 | AR | c.*353G>A (n.*353G>A) c.2005G>A (p.Glu669Lys) c.632G>A (n.632G>A) c.409G>A (p.Glu137Lys) c.1435G>A (p.Glu479Lys) | dbSNP COSMIC COSMIC |
| X | g.67711521G>C | CA413423203 | AR | c.*353G>C (n.*353G>C) c.2005G>C (p.Glu669Gln) c.632G>C (n.632G>C) c.409G>C (p.Glu137Gln) c.1435G>C (p.Glu479Gln) | dbSNP |
| X | g.67711521G>T | CA413423204 | AR | c.*353G>T (n.*353G>T) c.2005G>T (p.Glu669Ter) c.632G>T (n.632G>T) c.409G>T (p.Glu137Ter) c.1435G>T (p.Glu479Ter) | |
| X | g.67711522A>C | CA413423205 | AR | c.*354A>C (n.*354A>C) c.2006A>C (p.Glu669Ala) c.633A>C (n.633A>C) c.410A>C (p.Glu137Ala) c.1436A>C (p.Glu479Ala) | |
| X | g.67711522A>G | CA413423206 | AR | c.*354A>G (n.*354A>G) c.2006A>G (p.Glu669Gly) c.633A>G (n.633A>G) c.410A>G (p.Glu137Gly) c.1436A>G (p.Glu479Gly) | gnomAD v4 |
| X | g.67711522A>T | CA413423207 | AR | c.*354A>T (n.*354A>T) c.2006A>T (p.Glu669Val) c.633A>T (n.633A>T) c.410A>T (p.Glu137Val) c.1436A>T (p.Glu479Val) | dbSNP |
| X | g.67711523A>C | CA413423208 | AR | c.*355A>C (n.*355A>C) c.2007A>C (p.Glu669Asp) c.634A>C (n.634A>C) c.411A>C (p.Glu137Asp) c.1437A>C (p.Glu479Asp) | |
| X | g.67711523A>G | CA517048296 | AR | c.*355A>G (n.*355A>G) c.2007A>G (p.Glu669=) c.634A>G (n.634A>G) c.411A>G (p.Glu137=) c.1437A>G (p.Glu479=) | gnomAD v4 |
| X | g.67711523A>T | CA413423209 | AR | c.*355A>T (n.*355A>T) c.2007A>T (p.Glu669Asp) c.634A>T (n.634A>T) c.411A>T (p.Glu137Asp) c.1437A>T (p.Glu479Asp) | dbSNP |