Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22272882T>ACA379923829ANO5n.145T>A
c.1678T>A (p.Trp560Arg)
c.2086T>A (p.Trp696Arg)
n.3122T>A
c.2083T>A (p.Trp695Arg)
c.2128T>A (p.Trp710Arg)
n.2463T>A
c.2125T>A (p.Trp709Arg)
c.2050T>A (p.Trp684Arg)
c.2047T>A (p.Trp683Arg)
c.2035T>A (p.Trp679Arg)
11g.22272882T>CCA379923830ANO5n.145T>C
c.1678T>C (p.Trp560Arg)
c.2086T>C (p.Trp696Arg)
n.3122T>C
c.2083T>C (p.Trp695Arg)
c.2128T>C (p.Trp710Arg)
n.2463T>C
c.2125T>C (p.Trp709Arg)
c.2050T>C (p.Trp684Arg)
c.2047T>C (p.Trp683Arg)
c.2035T>C (p.Trp679Arg)
11g.22272882T>GCA379923831ANO5n.145T>G
c.1678T>G (p.Trp560Gly)
c.2086T>G (p.Trp696Gly)
n.3122T>G
c.2083T>G (p.Trp695Gly)
c.2128T>G (p.Trp710Gly)
n.2463T>G
c.2125T>G (p.Trp709Gly)
c.2050T>G (p.Trp684Gly)
c.2047T>G (p.Trp683Gly)
c.2035T>G (p.Trp679Gly)
11g.22272882_22272883delCA2555224231ANO5n.145_146del
c.1678_1679del (p.Trp560GlufsTer13)
c.2086_2087del (p.Trp696GlufsTer13)
n.3122_3123del
c.2083_2084del (p.Trp695GlufsTer13)
c.2128_2129del (p.Trp710GlufsTer13)
n.2463_2464del
c.2125_2126del (p.Trp709GlufsTer13)
c.2050_2051del (p.Trp684GlufsTer13)
c.2047_2048del (p.Trp683GlufsTer13)
c.2035_2036del (p.Trp679GlufsTer13)
11g.22272883G>ACA379923832ANO5n.146G>A
c.1679G>A (p.Trp560Ter)
c.2087G>A (p.Trp696Ter)
n.3123G>A
c.2084G>A (p.Trp695Ter)
c.2129G>A (p.Trp710Ter)
n.2464G>A
c.2126G>A (p.Trp709Ter)
c.2051G>A (p.Trp684Ter)
c.2048G>A (p.Trp683Ter)
c.2036G>A (p.Trp679Ter)
11g.22272883G>CCA379923833ANO5n.146G>C
c.1679G>C (p.Trp560Ser)
c.2087G>C (p.Trp696Ser)
n.3123G>C
c.2084G>C (p.Trp695Ser)
c.2129G>C (p.Trp710Ser)
n.2464G>C
c.2126G>C (p.Trp709Ser)
c.2051G>C (p.Trp684Ser)
c.2048G>C (p.Trp683Ser)
c.2036G>C (p.Trp679Ser)
11g.22272883G>TCA379923834ANO5n.146G>T
c.1679G>T (p.Trp560Leu)
c.2087G>T (p.Trp696Leu)
n.3123G>T
c.2084G>T (p.Trp695Leu)
c.2129G>T (p.Trp710Leu)
n.2464G>T
c.2126G>T (p.Trp709Leu)
c.2051G>T (p.Trp684Leu)
c.2048G>T (p.Trp683Leu)
c.2036G>T (p.Trp679Leu)
11g.22272884G>ACA379923835ANO5n.147G>A
c.1680G>A (p.Trp560Ter)
c.2088G>A (p.Trp696Ter)
n.3124G>A
c.2085G>A (p.Trp695Ter)
c.2130G>A (p.Trp710Ter)
n.2465G>A
c.2127G>A (p.Trp709Ter)
c.2052G>A (p.Trp684Ter)
c.2049G>A (p.Trp683Ter)
c.2037G>A (p.Trp679Ter)
11g.22272884G>CCA379923836ANO5n.147G>C
c.1680G>C (p.Trp560Cys)
c.2088G>C (p.Trp696Cys)
n.3124G>C
c.2085G>C (p.Trp695Cys)
c.2130G>C (p.Trp710Cys)
n.2465G>C
c.2127G>C (p.Trp709Cys)
c.2052G>C (p.Trp684Cys)
c.2049G>C (p.Trp683Cys)
c.2037G>C (p.Trp679Cys)
11g.22272884G>TCA379923837ANO5n.147G>T
c.1680G>T (p.Trp560Cys)
c.2088G>T (p.Trp696Cys)
n.3124G>T
c.2085G>T (p.Trp695Cys)
c.2130G>T (p.Trp710Cys)
n.2465G>T
c.2127G>T (p.Trp709Cys)
c.2052G>T (p.Trp684Cys)
c.2049G>T (p.Trp683Cys)
c.2037G>T (p.Trp679Cys)
11g.22272884_22272885insTATCATTAAACA2569459427ANO5n.147_148insTATCATTAAA
c.1680_1681insTATCATTAAA (p.Lys561TyrfsTer3)
c.2088_2089insTATCATTAAA (p.Lys697TyrfsTer3)
n.3124_3125insTATCATTAAA
c.2085_2086insTATCATTAAA (p.Lys696TyrfsTer3)
c.2130_2131insTATCATTAAA (p.Lys711TyrfsTer3)
n.2465_2466insTATCATTAAA
c.2127_2128insTATCATTAAA (p.Lys710TyrfsTer3)
c.2052_2053insTATCATTAAA (p.Lys685TyrfsTer3)
c.2049_2050insTATCATTAAA (p.Lys684TyrfsTer3)
c.2037_2038insTATCATTAAA (p.Lys680TyrfsTer3)
11g.22272885A>CCA379923838ANO5n.148A>C
c.1681A>C (p.Lys561Gln)
c.2089A>C (p.Lys697Gln)
n.3125A>C
c.2086A>C (p.Lys696Gln)
c.2131A>C (p.Lys711Gln)
n.2466A>C
c.2128A>C (p.Lys710Gln)
c.2053A>C (p.Lys685Gln)
c.2050A>C (p.Lys684Gln)
c.2038A>C (p.Lys680Gln)
11g.22272885A>GCA379923839ANO5n.148A>G
c.1681A>G (p.Lys561Glu)
c.2089A>G (p.Lys697Glu)
n.3125A>G
c.2086A>G (p.Lys696Glu)
c.2131A>G (p.Lys711Glu)
n.2466A>G
c.2128A>G (p.Lys710Glu)
c.2053A>G (p.Lys685Glu)
c.2050A>G (p.Lys684Glu)
c.2038A>G (p.Lys680Glu)
11g.22272885A>TCA379923840ANO5n.148A>T
c.1681A>T (p.Lys561Ter)
c.2089A>T (p.Lys697Ter)
n.3125A>T
c.2086A>T (p.Lys696Ter)
c.2131A>T (p.Lys711Ter)
n.2466A>T
c.2128A>T (p.Lys710Ter)
c.2053A>T (p.Lys685Ter)
c.2050A>T (p.Lys684Ter)
c.2038A>T (p.Lys680Ter)
11g.22272886A>CCA379923843ANO5n.149A>C
c.1682A>C (p.Lys561Thr)
c.2090A>C (p.Lys697Thr)
n.3126A>C
c.2087A>C (p.Lys696Thr)
c.2132A>C (p.Lys711Thr)
n.2467A>C
c.2129A>C (p.Lys710Thr)
c.2054A>C (p.Lys685Thr)
c.2051A>C (p.Lys684Thr)
c.2039A>C (p.Lys680Thr)
11g.22272886A>GCA379923842ANO5n.149A>G
c.1682A>G (p.Lys561Arg)
c.2090A>G (p.Lys697Arg)
n.3126A>G
c.2087A>G (p.Lys696Arg)
c.2132A>G (p.Lys711Arg)
n.2467A>G
c.2129A>G (p.Lys710Arg)
c.2054A>G (p.Lys685Arg)
c.2051A>G (p.Lys684Arg)
c.2039A>G (p.Lys680Arg)
11g.22272886A>TCA379923841ANO5n.149A>T
c.1682A>T (p.Lys561Ile)
c.2090A>T (p.Lys697Ile)
n.3126A>T
c.2087A>T (p.Lys696Ile)
c.2132A>T (p.Lys711Ile)
n.2467A>T
c.2129A>T (p.Lys710Ile)
c.2054A>T (p.Lys685Ile)
c.2051A>T (p.Lys684Ile)
c.2039A>T (p.Lys680Ile)
11g.22272887A=CA1957402932ANO5n.150A=
c.1683A= (p.Lys561=)
c.2091A= (p.Lys697=)
n.3127A=
c.2088A= (p.Lys696=)
c.2133A= (p.Lys711=)
n.2468A=
c.2130A= (p.Lys710=)
c.2055A= (p.Lys685=)
c.2052A= (p.Lys684=)
c.2040A= (p.Lys680=)
11g.22272887A>CCA379923844ANO5n.150A>C
c.1683A>C (p.Lys561Asn)
c.2091A>C (p.Lys697Asn)
n.3127A>C
c.2088A>C (p.Lys696Asn)
c.2133A>C (p.Lys711Asn)
n.2468A>C
c.2130A>C (p.Lys710Asn)
c.2055A>C (p.Lys685Asn)
c.2052A>C (p.Lys684Asn)
c.2040A>C (p.Lys680Asn)
11g.22272887A>GCA5923462ANO5n.150A>G
c.1683A>G (p.Lys561=)
c.2091A>G (p.Lys697=)
n.3127A>G
c.2088A>G (p.Lys696=)
c.2133A>G (p.Lys711=)
n.2468A>G
c.2130A>G (p.Lys710=)
c.2055A>G (p.Lys685=)
c.2052A>G (p.Lys684=)
c.2040A>G (p.Lys680=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272887A>TCA379923845ANO5n.150A>T
c.1683A>T (p.Lys561Asn)
c.2091A>T (p.Lys697Asn)
n.3127A>T
c.2088A>T (p.Lys696Asn)
c.2133A>T (p.Lys711Asn)
n.2468A>T
c.2130A>T (p.Lys710Asn)
c.2055A>T (p.Lys685Asn)
c.2052A>T (p.Lys684Asn)
c.2040A>T (p.Lys680Asn)
11g.22272888C>ACA379923846ANO5n.151C>A
c.1684C>A (p.Leu562Ile)
c.2092C>A (p.Leu698Ile)
n.3128C>A
c.2089C>A (p.Leu697Ile)
c.2134C>A (p.Leu712Ile)
n.2469C>A
c.2131C>A (p.Leu711Ile)
c.2056C>A (p.Leu686Ile)
c.2053C>A (p.Leu685Ile)
c.2041C>A (p.Leu681Ile)
11g.22272888C=CA1957402937ANO5n.151C=
c.1684C= (p.Leu562=)
c.2092C= (p.Leu698=)
n.3128C=
c.2089C= (p.Leu697=)
c.2134C= (p.Leu712=)
n.2469C=
c.2131C= (p.Leu711=)
c.2056C= (p.Leu686=)
c.2053C= (p.Leu685=)
c.2041C= (p.Leu681=)
11g.22272888C>GCA379923847ANO5n.151C>G
c.1684C>G (p.Leu562Val)
c.2092C>G (p.Leu698Val)
n.3128C>G
c.2089C>G (p.Leu697Val)
c.2134C>G (p.Leu712Val)
n.2469C>G
c.2131C>G (p.Leu711Val)
c.2056C>G (p.Leu686Val)
c.2053C>G (p.Leu685Val)
c.2041C>G (p.Leu681Val)
11g.22272888C>TCA379923848ANO5n.151C>T
c.1684C>T (p.Leu562Phe)
c.2092C>T (p.Leu698Phe)
n.3128C>T
c.2089C>T (p.Leu697Phe)
c.2134C>T (p.Leu712Phe)
n.2469C>T
c.2131C>T (p.Leu711Phe)
c.2056C>T (p.Leu686Phe)
c.2053C>T (p.Leu685Phe)
c.2041C>T (p.Leu681Phe)
 dbSNP gnomAD v4
11g.22272888_22272893delCA2539060843ANO5n.151_156del
c.1684_1689del (p.Leu562_Thr563del)
c.2092_2097del (p.Leu698_Thr699del)
n.3128_3133del
c.2089_2094del (p.Leu697_Thr698del)
c.2134_2139del (p.Leu712_Thr713del)
n.2469_2474del
c.2131_2136del (p.Leu711_Thr712del)
c.2056_2061del (p.Leu686_Thr687del)
c.2053_2058del (p.Leu685_Thr686del)
c.2041_2046del (p.Leu681_Thr682del)
11g.22272889T>ACA379923849ANO5n.152T>A
c.1685T>A (p.Leu562His)
c.2093T>A (p.Leu698His)
n.3129T>A
c.2090T>A (p.Leu697His)
c.2135T>A (p.Leu712His)
n.2470T>A
c.2132T>A (p.Leu711His)
c.2057T>A (p.Leu686His)
c.2054T>A (p.Leu685His)
c.2042T>A (p.Leu681His)
11g.22272889T>CCA379923850ANO5n.152T>C
c.1685T>C (p.Leu562Pro)
c.2093T>C (p.Leu698Pro)
n.3129T>C
c.2090T>C (p.Leu697Pro)
c.2135T>C (p.Leu712Pro)
n.2470T>C
c.2132T>C (p.Leu711Pro)
c.2057T>C (p.Leu686Pro)
c.2054T>C (p.Leu685Pro)
c.2042T>C (p.Leu681Pro)
11g.22272889T>GCA379923851ANO5n.152T>G
c.1685T>G (p.Leu562Arg)
c.2093T>G (p.Leu698Arg)
n.3129T>G
c.2090T>G (p.Leu697Arg)
c.2135T>G (p.Leu712Arg)
n.2470T>G
c.2132T>G (p.Leu711Arg)
c.2057T>G (p.Leu686Arg)
c.2054T>G (p.Leu685Arg)
c.2042T>G (p.Leu681Arg)
11g.22272890T>ACA473407539ANO5n.153T>A
c.1686T>A (p.Leu562=)
c.2094T>A (p.Leu698=)
n.3130T>A
c.2091T>A (p.Leu697=)
c.2136T>A (p.Leu712=)
n.2471T>A
c.2133T>A (p.Leu711=)
c.2058T>A (p.Leu686=)
c.2055T>A (p.Leu685=)
c.2043T>A (p.Leu681=)
11g.22272890T>CCA473407540ANO5n.153T>C
c.1686T>C (p.Leu562=)
c.2094T>C (p.Leu698=)
n.3130T>C
c.2091T>C (p.Leu697=)
c.2136T>C (p.Leu712=)
n.2471T>C
c.2133T>C (p.Leu711=)
c.2058T>C (p.Leu686=)
c.2055T>C (p.Leu685=)
c.2043T>C (p.Leu681=)
11g.22272890T>GCA473407541ANO5n.153T>G
c.1686T>G (p.Leu562=)
c.2094T>G (p.Leu698=)
n.3130T>G
c.2091T>G (p.Leu697=)
c.2136T>G (p.Leu712=)
n.2471T>G
c.2133T>G (p.Leu711=)
c.2058T>G (p.Leu686=)
c.2055T>G (p.Leu685=)
c.2043T>G (p.Leu681=)
11g.22272891A=CA1957402945ANO5n.154A=
c.1687A= (p.Thr563=)
c.2095A= (p.Thr699=)
n.3131A=
c.2092A= (p.Thr698=)
c.2137A= (p.Thr713=)
n.2472A=
c.2134A= (p.Thr712=)
c.2059A= (p.Thr687=)
c.2056A= (p.Thr686=)
c.2044A= (p.Thr682=)
11g.22272891A>CCA379923852ANO5n.154A>C
c.1687A>C (p.Thr563Pro)
c.2095A>C (p.Thr699Pro)
n.3131A>C
c.2092A>C (p.Thr698Pro)
c.2137A>C (p.Thr713Pro)
n.2472A>C
c.2134A>C (p.Thr712Pro)
c.2059A>C (p.Thr687Pro)
c.2056A>C (p.Thr686Pro)
c.2044A>C (p.Thr682Pro)
11g.22272891A>GCA5923463ANO5n.154A>G
c.1687A>G (p.Thr563Ala)
c.2095A>G (p.Thr699Ala)
n.3131A>G
c.2092A>G (p.Thr698Ala)
c.2137A>G (p.Thr713Ala)
n.2472A>G
c.2134A>G (p.Thr712Ala)
c.2059A>G (p.Thr687Ala)
c.2056A>G (p.Thr686Ala)
c.2044A>G (p.Thr682Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272891A>TCA379923853ANO5n.154A>T
c.1687A>T (p.Thr563Ser)
c.2095A>T (p.Thr699Ser)
n.3131A>T
c.2092A>T (p.Thr698Ser)
c.2137A>T (p.Thr713Ser)
n.2472A>T
c.2134A>T (p.Thr712Ser)
c.2059A>T (p.Thr687Ser)
c.2056A>T (p.Thr686Ser)
c.2044A>T (p.Thr682Ser)
11g.22272892C>ACA379923854ANO5n.155C>A
c.1688C>A (p.Thr563Asn)
c.2096C>A (p.Thr699Asn)
n.3132C>A
c.2093C>A (p.Thr698Asn)
c.2138C>A (p.Thr713Asn)
n.2473C>A
c.2135C>A (p.Thr712Asn)
c.2060C>A (p.Thr687Asn)
c.2057C>A (p.Thr686Asn)
c.2045C>A (p.Thr682Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.22272892C=CA1957402949ANO5n.155C=
c.1688C= (p.Thr563=)
c.2096C= (p.Thr699=)
n.3132C=
c.2093C= (p.Thr698=)
c.2138C= (p.Thr713=)
n.2473C=
c.2135C= (p.Thr712=)
c.2060C= (p.Thr687=)
c.2057C= (p.Thr686=)
c.2045C= (p.Thr682=)
11g.22272892C>GCA379923855ANO5n.155C>G
c.1688C>G (p.Thr563Ser)
c.2096C>G (p.Thr699Ser)
n.3132C>G
c.2093C>G (p.Thr698Ser)
c.2138C>G (p.Thr713Ser)
n.2473C>G
c.2135C>G (p.Thr712Ser)
c.2060C>G (p.Thr687Ser)
c.2057C>G (p.Thr686Ser)
c.2045C>G (p.Thr682Ser)
11g.22272892C>TCA379923856ANO5n.155C>T
c.1688C>T (p.Thr563Ile)
c.2096C>T (p.Thr699Ile)
n.3132C>T
c.2093C>T (p.Thr698Ile)
c.2138C>T (p.Thr713Ile)
n.2473C>T
c.2135C>T (p.Thr712Ile)
c.2060C>T (p.Thr687Ile)
c.2057C>T (p.Thr686Ile)
c.2045C>T (p.Thr682Ile)
 ClinVar dbSNP gnomAD v4
11g.22272893C>ACA473407542ANO5n.156C>A
c.1689C>A (p.Thr563=)
c.2097C>A (p.Thr699=)
n.3133C>A
c.2094C>A (p.Thr698=)
c.2139C>A (p.Thr713=)
n.2474C>A
c.2136C>A (p.Thr712=)
c.2061C>A (p.Thr687=)
c.2058C>A (p.Thr686=)
c.2046C>A (p.Thr682=)
11g.22272893C=CA1957402953ANO5n.156C=
c.1689C= (p.Thr563=)
c.2097C= (p.Thr699=)
n.3133C=
c.2094C= (p.Thr698=)
c.2139C= (p.Thr713=)
n.2474C=
c.2136C= (p.Thr712=)
c.2061C= (p.Thr687=)
c.2058C= (p.Thr686=)
c.2046C= (p.Thr682=)
11g.22272893C>GCA473407543ANO5n.156C>G
c.1689C>G (p.Thr563=)
c.2097C>G (p.Thr699=)
n.3133C>G
c.2094C>G (p.Thr698=)
c.2139C>G (p.Thr713=)
n.2474C>G
c.2136C>G (p.Thr712=)
c.2061C>G (p.Thr687=)
c.2058C>G (p.Thr686=)
c.2046C>G (p.Thr682=)
11g.22272893C>TCA5923464ANO5n.156C>T
c.1689C>T (p.Thr563=)
c.2097C>T (p.Thr699=)
n.3133C>T
c.2094C>T (p.Thr698=)
c.2139C>T (p.Thr713=)
n.2474C>T
c.2136C>T (p.Thr712=)
c.2061C>T (p.Thr687=)
c.2058C>T (p.Thr686=)
c.2046C>T (p.Thr682=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272895_22272898dupCA2695213375ANO5n.158_161dup
c.1691_1694dup (p.Gln565HisfsTer10)
c.2099_2102dup (p.Gln701HisfsTer10)
n.3135_3138dup
c.2096_2099dup (p.Gln700HisfsTer10)
c.2141_2144dup (p.Gln715HisfsTer10)
n.2476_2479dup
c.2138_2141dup (p.Gln714HisfsTer10)
c.2063_2066dup (p.Gln689HisfsTer10)
c.2060_2063dup (p.Gln688HisfsTer10)
c.2048_2051dup (p.Gln684HisfsTer10)
11g.22272894A=CA1957402957ANO5n.157A=
c.1690A= (p.Thr564=)
c.2098A= (p.Thr700=)
n.3134A=
c.2095A= (p.Thr699=)
c.2140A= (p.Thr714=)
n.2475A=
c.2137A= (p.Thr713=)
c.2062A= (p.Thr688=)
c.2059A= (p.Thr687=)
c.2047A= (p.Thr683=)
11g.22272894A>CCA379923857ANO5n.157A>C
c.1690A>C (p.Thr564Pro)
c.2098A>C (p.Thr700Pro)
n.3134A>C
c.2095A>C (p.Thr699Pro)
c.2140A>C (p.Thr714Pro)
n.2475A>C
c.2137A>C (p.Thr713Pro)
c.2062A>C (p.Thr688Pro)
c.2059A>C (p.Thr687Pro)
c.2047A>C (p.Thr683Pro)
11g.22272894A>GCA218775863ANO5n.157A>G
c.1690A>G (p.Thr564Ala)
c.2098A>G (p.Thr700Ala)
n.3134A>G
c.2095A>G (p.Thr699Ala)
c.2140A>G (p.Thr714Ala)
n.2475A>G
c.2137A>G (p.Thr713Ala)
c.2062A>G (p.Thr688Ala)
c.2059A>G (p.Thr687Ala)
c.2047A>G (p.Thr683Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.22272894A>TCA379923858ANO5n.157A>T
c.1690A>T (p.Thr564Ser)
c.2098A>T (p.Thr700Ser)
n.3134A>T
c.2095A>T (p.Thr699Ser)
c.2140A>T (p.Thr714Ser)
n.2475A>T
c.2137A>T (p.Thr713Ser)
c.2062A>T (p.Thr688Ser)
c.2059A>T (p.Thr687Ser)
c.2047A>T (p.Thr683Ser)
11g.22272894_22272895delinsACCA1957402959ANO5n.157_158delinsAC
c.1690_1691delinsAC (p.Thr564=)
c.2098_2099delinsAC (p.Thr700=)
n.3134_3135delinsAC
c.2095_2096delinsAC (p.Thr699=)
c.2140_2141delinsAC (p.Thr714=)
n.2475_2476delinsAC
c.2137_2138delinsAC (p.Thr713=)
c.2062_2063delinsAC (p.Thr688=)
c.2059_2060delinsAC (p.Thr687=)
c.2047_2048delinsAC (p.Thr683=)
11g.22272895delCA5923465ANO5n.158del
c.1691del (p.Thr564IlefsTer7)
c.2099del (p.Thr700IlefsTer7)
n.3135del
c.2096del (p.Thr699IlefsTer7)
c.2141del (p.Thr714IlefsTer7)
n.2476del
c.2138del (p.Thr713IlefsTer7)
c.2063del (p.Thr688IlefsTer7)
c.2060del (p.Thr687IlefsTer7)
c.2048del (p.Thr683IlefsTer7)
 dbSNP ExAC gnomAD v2
11g.22272895C>ACA379923859ANO5n.158C>A
c.1691C>A (p.Thr564Asn)
c.2099C>A (p.Thr700Asn)
n.3135C>A
c.2096C>A (p.Thr699Asn)
c.2141C>A (p.Thr714Asn)
n.2476C>A
c.2138C>A (p.Thr713Asn)
c.2063C>A (p.Thr688Asn)
c.2060C>A (p.Thr687Asn)
c.2048C>A (p.Thr683Asn)
11g.22272895C=CA1957402968ANO5n.158C=
c.1691C= (p.Thr564=)
c.2099C= (p.Thr700=)
n.3135C=
c.2096C= (p.Thr699=)
c.2141C= (p.Thr714=)
n.2476C=
c.2138C= (p.Thr713=)
c.2063C= (p.Thr688=)
c.2060C= (p.Thr687=)
c.2048C= (p.Thr683=)
11g.22272895C>GCA241255ANO5n.158C>G
c.1691C>G (p.Thr564Ser)
c.2099C>G (p.Thr700Ser)
n.3135C>G
c.2096C>G (p.Thr699Ser)
c.2141C>G (p.Thr714Ser)
n.2476C>G
c.2138C>G (p.Thr713Ser)
c.2063C>G (p.Thr688Ser)
c.2060C>G (p.Thr687Ser)
c.2048C>G (p.Thr683Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272895C>TCA379923860ANO5n.158C>T
c.1691C>T (p.Thr564Ile)
c.2099C>T (p.Thr700Ile)
n.3135C>T
c.2096C>T (p.Thr699Ile)
c.2141C>T (p.Thr714Ile)
n.2476C>T
c.2138C>T (p.Thr713Ile)
c.2063C>T (p.Thr688Ile)
c.2060C>T (p.Thr687Ile)
c.2048C>T (p.Thr683Ile)
11g.22272896delCA379923861ANO5n.159del
c.1692del (p.Gln565AsnfsTer6)
c.2100del (p.Gln701AsnfsTer6)
n.3136del
c.2097del (p.Gln700AsnfsTer6)
c.2142del (p.Gln715AsnfsTer6)
n.2477del
c.2139del (p.Gln714AsnfsTer6)
c.2064del (p.Gln689AsnfsTer6)
c.2061del (p.Gln688AsnfsTer6)
c.2049del (p.Gln684AsnfsTer6)
11g.22272896T>ACA473407544ANO5n.159T>A
c.1692T>A (p.Thr564=)
c.2100T>A (p.Thr700=)
n.3136T>A
c.2097T>A (p.Thr699=)
c.2142T>A (p.Thr714=)
n.2477T>A
c.2139T>A (p.Thr713=)
c.2064T>A (p.Thr688=)
c.2061T>A (p.Thr687=)
c.2049T>A (p.Thr683=)
11g.22272896T>CCA473407545ANO5n.159T>C
c.1692T>C (p.Thr564=)
c.2100T>C (p.Thr700=)
n.3136T>C
c.2097T>C (p.Thr699=)
c.2142T>C (p.Thr714=)
n.2477T>C
c.2139T>C (p.Thr713=)
c.2064T>C (p.Thr688=)
c.2061T>C (p.Thr687=)
c.2049T>C (p.Thr683=)
11g.22272896T>GCA473407546ANO5n.159T>G
c.1692T>G (p.Thr564=)
c.2100T>G (p.Thr700=)
n.3136T>G
c.2097T>G (p.Thr699=)
c.2142T>G (p.Thr714=)
n.2477T>G
c.2139T>G (p.Thr713=)
c.2064T>G (p.Thr688=)
c.2061T>G (p.Thr687=)
c.2049T>G (p.Thr683=)
 gnomAD v4
11g.22272897C>ACA379923862ANO5n.160C>A
c.1693C>A (p.Gln565Lys)
c.2101C>A (p.Gln701Lys)
n.3137C>A
c.2098C>A (p.Gln700Lys)
c.2143C>A (p.Gln715Lys)
n.2478C>A
c.2140C>A (p.Gln714Lys)
c.2065C>A (p.Gln689Lys)
c.2062C>A (p.Gln688Lys)
c.2050C>A (p.Gln684Lys)
11g.22272897C>GCA379923863ANO5n.160C>G
c.1693C>G (p.Gln565Glu)
c.2101C>G (p.Gln701Glu)
n.3137C>G
c.2098C>G (p.Gln700Glu)
c.2143C>G (p.Gln715Glu)
n.2478C>G
c.2140C>G (p.Gln714Glu)
c.2065C>G (p.Gln689Glu)
c.2062C>G (p.Gln688Glu)
c.2050C>G (p.Gln684Glu)
11g.22272897C>TCA379923864ANO5n.160C>T
c.1693C>T (p.Gln565Ter)
c.2101C>T (p.Gln701Ter)
n.3137C>T
c.2098C>T (p.Gln700Ter)
c.2143C>T (p.Gln715Ter)
n.2478C>T
c.2140C>T (p.Gln714Ter)
c.2065C>T (p.Gln689Ter)
c.2062C>T (p.Gln688Ter)
c.2050C>T (p.Gln684Ter)
11g.22272898A=CA1957402974ANO5n.161A=
c.1694A= (p.Gln565=)
c.2102A= (p.Gln701=)
n.3138A=
c.2099A= (p.Gln700=)
c.2144A= (p.Gln715=)
n.2479A=
c.2141A= (p.Gln714=)
c.2066A= (p.Gln689=)
c.2063A= (p.Gln688=)
c.2051A= (p.Gln684=)
11g.22272898A>CCA379923865ANO5n.161A>C
c.1694A>C (p.Gln565Pro)
c.2102A>C (p.Gln701Pro)
n.3138A>C
c.2099A>C (p.Gln700Pro)
c.2144A>C (p.Gln715Pro)
n.2479A>C
c.2141A>C (p.Gln714Pro)
c.2066A>C (p.Gln689Pro)
c.2063A>C (p.Gln688Pro)
c.2051A>C (p.Gln684Pro)
11g.22272898A>GCA10605538ANO5n.161A>G
c.1694A>G (p.Gln565Arg)
c.2102A>G (p.Gln701Arg)
n.3138A>G
c.2099A>G (p.Gln700Arg)
c.2144A>G (p.Gln715Arg)
n.2479A>G
c.2141A>G (p.Gln714Arg)
c.2066A>G (p.Gln689Arg)
c.2063A>G (p.Gln688Arg)
c.2051A>G (p.Gln684Arg)
 ClinVar dbSNP gnomAD v4
11g.22272898A>TCA379923866ANO5n.161A>T
c.1694A>T (p.Gln565Leu)
c.2102A>T (p.Gln701Leu)
n.3138A>T
c.2099A>T (p.Gln700Leu)
c.2144A>T (p.Gln715Leu)
n.2479A>T
c.2141A>T (p.Gln714Leu)
c.2066A>T (p.Gln689Leu)
c.2063A>T (p.Gln688Leu)
c.2051A>T (p.Gln684Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.22272899A>CCA379923868ANO5n.162A>C
c.1695A>C (p.Gln565His)
c.2103A>C (p.Gln701His)
n.3139A>C
c.2100A>C (p.Gln700His)
c.2145A>C (p.Gln715His)
n.2480A>C
c.2142A>C (p.Gln714His)
c.2067A>C (p.Gln689His)
c.2064A>C (p.Gln688His)
c.2052A>C (p.Gln684His)
11g.22272899A>GCA473407547ANO5n.162A>G
c.1695A>G (p.Gln565=)
c.2103A>G (p.Gln701=)
n.3139A>G
c.2100A>G (p.Gln700=)
c.2145A>G (p.Gln715=)
n.2480A>G
c.2142A>G (p.Gln714=)
c.2067A>G (p.Gln689=)
c.2064A>G (p.Gln688=)
c.2052A>G (p.Gln684=)
 gnomAD v4
11g.22272899A>TCA379923867ANO5n.162A>T
c.1695A>T (p.Gln565His)
c.2103A>T (p.Gln701His)
n.3139A>T
c.2100A>T (p.Gln700His)
c.2145A>T (p.Gln715His)
n.2480A>T
c.2142A>T (p.Gln714His)
c.2067A>T (p.Gln689His)
c.2064A>T (p.Gln688His)
c.2052A>T (p.Gln684His)
11g.22272900T>ACA379923869ANO5n.163T>A
c.1696T>A (p.Tyr566Asn)
c.2104T>A (p.Tyr702Asn)
n.3140T>A
c.2101T>A (p.Tyr701Asn)
c.2146T>A (p.Tyr716Asn)
n.2481T>A
c.2143T>A (p.Tyr715Asn)
c.2068T>A (p.Tyr690Asn)
c.2065T>A (p.Tyr689Asn)
c.2053T>A (p.Tyr685Asn)
11g.22272900T>CCA379923870ANO5n.163T>C
c.1696T>C (p.Tyr566His)
c.2104T>C (p.Tyr702His)
n.3140T>C
c.2101T>C (p.Tyr701His)
c.2146T>C (p.Tyr716His)
n.2481T>C
c.2143T>C (p.Tyr715His)
c.2068T>C (p.Tyr690His)
c.2065T>C (p.Tyr689His)
c.2053T>C (p.Tyr685His)
11g.22272900T>GCA379923871ANO5n.163T>G
c.1696T>G (p.Tyr566Asp)
c.2104T>G (p.Tyr702Asp)
n.3140T>G
c.2101T>G (p.Tyr701Asp)
c.2146T>G (p.Tyr716Asp)
n.2481T>G
c.2143T>G (p.Tyr715Asp)
c.2068T>G (p.Tyr690Asp)
c.2065T>G (p.Tyr689Asp)
c.2053T>G (p.Tyr685Asp)
11g.22272901A=CA1957402981ANO5n.164A=
c.1697A= (p.Tyr566=)
c.2105A= (p.Tyr702=)
n.3141A=
c.2102A= (p.Tyr701=)
c.2147A= (p.Tyr716=)
n.2482A=
c.2144A= (p.Tyr715=)
c.2069A= (p.Tyr690=)
c.2066A= (p.Tyr689=)
c.2054A= (p.Tyr685=)
11g.22272901A>CCA379923872ANO5n.164A>C
c.1697A>C (p.Tyr566Ser)
c.2105A>C (p.Tyr702Ser)
n.3141A>C
c.2102A>C (p.Tyr701Ser)
c.2147A>C (p.Tyr716Ser)
n.2482A>C
c.2144A>C (p.Tyr715Ser)
c.2069A>C (p.Tyr690Ser)
c.2066A>C (p.Tyr689Ser)
c.2054A>C (p.Tyr685Ser)
 dbSNP gnomAD v2
11g.22272901A>GCA379923873ANO5n.164A>G
c.1697A>G (p.Tyr566Cys)
c.2105A>G (p.Tyr702Cys)
n.3141A>G
c.2102A>G (p.Tyr701Cys)
c.2147A>G (p.Tyr716Cys)
n.2482A>G
c.2144A>G (p.Tyr715Cys)
c.2069A>G (p.Tyr690Cys)
c.2066A>G (p.Tyr689Cys)
c.2054A>G (p.Tyr685Cys)
 dbSNP gnomAD v4
11g.22272901A>TCA379923874ANO5n.164A>T
c.1697A>T (p.Tyr566Phe)
c.2105A>T (p.Tyr702Phe)
n.3141A>T
c.2102A>T (p.Tyr701Phe)
c.2147A>T (p.Tyr716Phe)
n.2482A>T
c.2144A>T (p.Tyr715Phe)
c.2069A>T (p.Tyr690Phe)
c.2066A>T (p.Tyr689Phe)
c.2054A>T (p.Tyr685Phe)
11g.22272902C>ACA379923875ANO5n.165C>A
c.1698C>A (p.Tyr566Ter)
c.2106C>A (p.Tyr702Ter)
n.3142C>A
c.2103C>A (p.Tyr701Ter)
c.2148C>A (p.Tyr716Ter)
n.2483C>A
c.2145C>A (p.Tyr715Ter)
c.2070C>A (p.Tyr690Ter)
c.2067C>A (p.Tyr689Ter)
c.2055C>A (p.Tyr685Ter)
11g.22272902C=CA1957402986ANO5n.165C=
c.1698C= (p.Tyr566=)
c.2106C= (p.Tyr702=)
n.3142C=
c.2103C= (p.Tyr701=)
c.2148C= (p.Tyr716=)
n.2483C=
c.2145C= (p.Tyr715=)
c.2070C= (p.Tyr690=)
c.2067C= (p.Tyr689=)
c.2055C= (p.Tyr685=)
11g.22272902C>GCA379923876ANO5n.165C>G
c.1698C>G (p.Tyr566Ter)
c.2106C>G (p.Tyr702Ter)
n.3142C>G
c.2103C>G (p.Tyr701Ter)
c.2148C>G (p.Tyr716Ter)
n.2483C>G
c.2145C>G (p.Tyr715Ter)
c.2070C>G (p.Tyr690Ter)
c.2067C>G (p.Tyr689Ter)
c.2055C>G (p.Tyr685Ter)
 gnomAD v4
11g.22272902C>TCA473407548ANO5n.165C>T
c.1698C>T (p.Tyr566=)
c.2106C>T (p.Tyr702=)
n.3142C>T
c.2103C>T (p.Tyr701=)
c.2148C>T (p.Tyr716=)
n.2483C>T
c.2145C>T (p.Tyr715=)
c.2070C>T (p.Tyr690=)
c.2067C>T (p.Tyr689=)
c.2055C>T (p.Tyr685=)
 ClinVar dbSNP
11g.22272903A=CA1957402988ANO5n.166A=
c.1699A= (p.Arg567=)
c.2107A= (p.Arg703=)
n.3143A=
c.2104A= (p.Arg702=)
c.2149A= (p.Arg717=)
n.2484A=
c.2146A= (p.Arg716=)
c.2071A= (p.Arg691=)
c.2068A= (p.Arg690=)
c.2056A= (p.Arg686=)
11g.22272903A>CCA473407549ANO5n.166A>C
c.1699A>C (p.Arg567=)
c.2107A>C (p.Arg703=)
n.3143A>C
c.2104A>C (p.Arg702=)
c.2149A>C (p.Arg717=)
n.2484A>C
c.2146A>C (p.Arg716=)
c.2071A>C (p.Arg691=)
c.2068A>C (p.Arg690=)
c.2056A>C (p.Arg686=)
 dbSNP gnomAD v3 gnomAD v4
11g.22272903A>GCA379923877ANO5n.166A>G
c.1699A>G (p.Arg567Gly)
c.2107A>G (p.Arg703Gly)
n.3143A>G
c.2104A>G (p.Arg702Gly)
c.2149A>G (p.Arg717Gly)
n.2484A>G
c.2146A>G (p.Arg716Gly)
c.2071A>G (p.Arg691Gly)
c.2068A>G (p.Arg690Gly)
c.2056A>G (p.Arg686Gly)
11g.22272903A>TCA379923878ANO5n.166A>T
c.1699A>T (p.Arg567Trp)
c.2107A>T (p.Arg703Trp)
n.3143A>T
c.2104A>T (p.Arg702Trp)
c.2149A>T (p.Arg717Trp)
n.2484A>T
c.2146A>T (p.Arg716Trp)
c.2071A>T (p.Arg691Trp)
c.2068A>T (p.Arg690Trp)
c.2056A>T (p.Arg686Trp)
11g.22272904G>ACA379923879ANO5n.167G>A
c.1700G>A (p.Arg567Lys)
c.2108G>A (p.Arg703Lys)
n.3144G>A
c.2105G>A (p.Arg702Lys)
c.2150G>A (p.Arg717Lys)
n.2485G>A
c.2147G>A (p.Arg716Lys)
c.2072G>A (p.Arg691Lys)
c.2069G>A (p.Arg690Lys)
c.2057G>A (p.Arg686Lys)
11g.22272904G>CCA379923880ANO5n.167G>C
c.1700G>C (p.Arg567Thr)
c.2108G>C (p.Arg703Thr)
n.3144G>C
c.2105G>C (p.Arg702Thr)
c.2150G>C (p.Arg717Thr)
n.2485G>C
c.2147G>C (p.Arg716Thr)
c.2072G>C (p.Arg691Thr)
c.2069G>C (p.Arg690Thr)
c.2057G>C (p.Arg686Thr)
11g.22272904G>TCA379923881ANO5n.167G>T
c.1700G>T (p.Arg567Met)
c.2108G>T (p.Arg703Met)
n.3144G>T
c.2105G>T (p.Arg702Met)
c.2150G>T (p.Arg717Met)
n.2485G>T
c.2147G>T (p.Arg716Met)
c.2072G>T (p.Arg691Met)
c.2069G>T (p.Arg690Met)
c.2057G>T (p.Arg686Met)
11g.22272905G>ACA473407550ANO5n.168G>A
c.1701G>A (p.Arg567=)
c.2109G>A (p.Arg703=)
n.3145G>A
c.2106G>A (p.Arg702=)
c.2151G>A (p.Arg717=)
n.2486G>A
c.2148G>A (p.Arg716=)
c.2073G>A (p.Arg691=)
c.2070G>A (p.Arg690=)
c.2058G>A (p.Arg686=)
11g.22272905G>CCA379923883ANO5n.168G>C
c.1701G>C (p.Arg567Ser)
c.2109G>C (p.Arg703Ser)
n.3145G>C
c.2106G>C (p.Arg702Ser)
c.2151G>C (p.Arg717Ser)
n.2486G>C
c.2148G>C (p.Arg716Ser)
c.2073G>C (p.Arg691Ser)
c.2070G>C (p.Arg690Ser)
c.2058G>C (p.Arg686Ser)
11g.22272905G>TCA379923882ANO5n.168G>T
c.1701G>T (p.Arg567Ser)
c.2109G>T (p.Arg703Ser)
n.3145G>T
c.2106G>T (p.Arg702Ser)
c.2151G>T (p.Arg717Ser)
n.2486G>T
c.2148G>T (p.Arg716Ser)
c.2073G>T (p.Arg691Ser)
c.2070G>T (p.Arg690Ser)
c.2058G>T (p.Arg686Ser)
11g.22272906A>CCA473407551ANO5n.169A>C
c.1702A>C (p.Arg568=)
c.2110A>C (p.Arg704=)
n.3146A>C
c.2107A>C (p.Arg703=)
c.2152A>C (p.Arg718=)
n.2487A>C
c.2149A>C (p.Arg717=)
c.2074A>C (p.Arg692=)
c.2071A>C (p.Arg691=)
c.2059A>C (p.Arg687=)
11g.22272906A>GCA379923884ANO5n.169A>G
c.1702A>G (p.Arg568Gly)
c.2110A>G (p.Arg704Gly)
n.3146A>G
c.2107A>G (p.Arg703Gly)
c.2152A>G (p.Arg718Gly)
n.2487A>G
c.2149A>G (p.Arg717Gly)
c.2074A>G (p.Arg692Gly)
c.2071A>G (p.Arg691Gly)
c.2059A>G (p.Arg687Gly)
11g.22272906A>TCA379923885ANO5n.169A>T
c.1702A>T (p.Arg568Ter)
c.2110A>T (p.Arg704Ter)
n.3146A>T
c.2107A>T (p.Arg703Ter)
c.2152A>T (p.Arg718Ter)
n.2487A>T
c.2149A>T (p.Arg717Ter)
c.2074A>T (p.Arg692Ter)
c.2071A>T (p.Arg691Ter)
c.2059A>T (p.Arg687Ter)
11g.22272907G>ACA379923886ANO5n.170G>A
c.1703G>A (p.Arg568Lys)
c.2111G>A (p.Arg704Lys)
n.3147G>A
c.2108G>A (p.Arg703Lys)
c.2153G>A (p.Arg718Lys)
n.2488G>A
c.2150G>A (p.Arg717Lys)
c.2075G>A (p.Arg692Lys)
c.2072G>A (p.Arg691Lys)
c.2060G>A (p.Arg687Lys)
 gnomAD v4
11g.22272907G>CCA379923887ANO5n.170G>C
c.1703G>C (p.Arg568Thr)
c.2111G>C (p.Arg704Thr)
n.3147G>C
c.2108G>C (p.Arg703Thr)
c.2153G>C (p.Arg718Thr)
n.2488G>C
c.2150G>C (p.Arg717Thr)
c.2075G>C (p.Arg692Thr)
c.2072G>C (p.Arg691Thr)
c.2060G>C (p.Arg687Thr)
11g.22272907G>TCA379923888ANO5n.170G>T
c.1703G>T (p.Arg568Ile)
c.2111G>T (p.Arg704Ile)
n.3147G>T
c.2108G>T (p.Arg703Ile)
c.2153G>T (p.Arg718Ile)
n.2488G>T
c.2150G>T (p.Arg717Ile)
c.2075G>T (p.Arg692Ile)
c.2072G>T (p.Arg691Ile)
c.2060G>T (p.Arg687Ile)
11g.22272908A>CCA379923889ANO5n.171A>C
c.1704A>C (p.Arg568Ser)
c.2112A>C (p.Arg704Ser)
n.3148A>C
c.2109A>C (p.Arg703Ser)
c.2154A>C (p.Arg718Ser)
n.2489A>C
c.2151A>C (p.Arg717Ser)
c.2076A>C (p.Arg692Ser)
c.2073A>C (p.Arg691Ser)
c.2061A>C (p.Arg687Ser)
11g.22272908A>GCA473407554ANO5n.171A>G
c.1704A>G (p.Arg568=)
c.2112A>G (p.Arg704=)
n.3148A>G
c.2109A>G (p.Arg703=)
c.2154A>G (p.Arg718=)
n.2489A>G
c.2151A>G (p.Arg717=)
c.2076A>G (p.Arg692=)
c.2073A>G (p.Arg691=)
c.2061A>G (p.Arg687=)
11g.22272908A>TCA379923890ANO5n.171A>T
c.1704A>T (p.Arg568Ser)
c.2112A>T (p.Arg704Ser)
n.3148A>T
c.2109A>T (p.Arg703Ser)
c.2154A>T (p.Arg718Ser)
n.2489A>T
c.2151A>T (p.Arg717Ser)
c.2076A>T (p.Arg692Ser)
c.2073A>T (p.Arg691Ser)
c.2061A>T (p.Arg687Ser)
11g.22272909A>CCA379923891ANO5n.172A>C
c.1705A>C (p.Thr569Pro)
c.2113A>C (p.Thr705Pro)
n.3149A>C
c.2110A>C (p.Thr704Pro)
c.2155A>C (p.Thr719Pro)
n.2490A>C
c.2152A>C (p.Thr718Pro)
c.2077A>C (p.Thr693Pro)
c.2074A>C (p.Thr692Pro)
c.2062A>C (p.Thr688Pro)
 COSMIC
11g.22272909A>GCA379923892ANO5n.172A>G
c.1705A>G (p.Thr569Ala)
c.2113A>G (p.Thr705Ala)
n.3149A>G
c.2110A>G (p.Thr704Ala)
c.2155A>G (p.Thr719Ala)
n.2490A>G
c.2152A>G (p.Thr718Ala)
c.2077A>G (p.Thr693Ala)
c.2074A>G (p.Thr692Ala)
c.2062A>G (p.Thr688Ala)
11g.22272909A>TCA379923893ANO5n.172A>T
c.1705A>T (p.Thr569Ser)
c.2113A>T (p.Thr705Ser)
n.3149A>T
c.2110A>T (p.Thr704Ser)
c.2155A>T (p.Thr719Ser)
n.2490A>T
c.2152A>T (p.Thr718Ser)
c.2077A>T (p.Thr693Ser)
c.2074A>T (p.Thr692Ser)
c.2062A>T (p.Thr688Ser)
11g.22272910C>ACA379923894ANO5n.173C>A
c.1706C>A (p.Thr569Asn)
c.2114C>A (p.Thr705Asn)
n.3150C>A
c.2111C>A (p.Thr704Asn)
c.2156C>A (p.Thr719Asn)
n.2491C>A
c.2153C>A (p.Thr718Asn)
c.2078C>A (p.Thr693Asn)
c.2075C>A (p.Thr692Asn)
c.2063C>A (p.Thr688Asn)
11g.22272910C=CA1957402995ANO5n.173C=
c.1706C= (p.Thr569=)
c.2114C= (p.Thr705=)
n.3150C=
c.2111C= (p.Thr704=)
c.2156C= (p.Thr719=)
n.2491C=
c.2153C= (p.Thr718=)
c.2078C= (p.Thr693=)
c.2075C= (p.Thr692=)
c.2063C= (p.Thr688=)
11g.22272910C>GCA379923895ANO5n.173C>G
c.1706C>G (p.Thr569Ser)
c.2114C>G (p.Thr705Ser)
n.3150C>G
c.2111C>G (p.Thr704Ser)
c.2156C>G (p.Thr719Ser)
n.2491C>G
c.2153C>G (p.Thr718Ser)
c.2078C>G (p.Thr693Ser)
c.2075C>G (p.Thr692Ser)
c.2063C>G (p.Thr688Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.22272910C>TCA379923896ANO5n.173C>T
c.1706C>T (p.Thr569Ile)
c.2114C>T (p.Thr705Ile)
n.3150C>T
c.2111C>T (p.Thr704Ile)
c.2156C>T (p.Thr719Ile)
n.2491C>T
c.2153C>T (p.Thr718Ile)
c.2078C>T (p.Thr693Ile)
c.2075C>T (p.Thr692Ile)
c.2063C>T (p.Thr688Ile)
11g.22272911delCA473407560ANO5n.174del
c.1707del (p.Val570Ter)
c.2115del (p.Val706Ter)
n.3151del
c.2112del (p.Val705Ter)
c.2157del (p.Val720Ter)
n.2492del
c.2154del (p.Val719Ter)
c.2079del (p.Val694Ter)
c.2076del (p.Val693Ter)
c.2064del (p.Val689Ter)
 COSMIC
11g.22272911T>ACA473407558ANO5n.174T>A
c.1707T>A (p.Thr569=)
c.2115T>A (p.Thr705=)
n.3151T>A
c.2112T>A (p.Thr704=)
c.2157T>A (p.Thr719=)
n.2492T>A
c.2154T>A (p.Thr718=)
c.2079T>A (p.Thr693=)
c.2076T>A (p.Thr692=)
c.2064T>A (p.Thr688=)
11g.22272911T>CCA473407559ANO5n.174T>C
c.1707T>C (p.Thr569=)
c.2115T>C (p.Thr705=)
n.3151T>C
c.2112T>C (p.Thr704=)
c.2157T>C (p.Thr719=)
n.2492T>C
c.2154T>C (p.Thr718=)
c.2079T>C (p.Thr693=)
c.2076T>C (p.Thr692=)
c.2064T>C (p.Thr688=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272911T>GCA5923466ANO5n.174T>G
c.1707T>G (p.Thr569=)
c.2115T>G (p.Thr705=)
n.3151T>G
c.2112T>G (p.Thr704=)
c.2157T>G (p.Thr719=)
n.2492T>G
c.2154T>G (p.Thr718=)
c.2079T>G (p.Thr693=)
c.2076T>G (p.Thr692=)
c.2064T>G (p.Thr688=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272911T=CA1957403000ANO5n.174T=
c.1707T= (p.Thr569=)
c.2115T= (p.Thr705=)
n.3151T=
c.2112T= (p.Thr704=)
c.2157T= (p.Thr719=)
n.2492T=
c.2154T= (p.Thr718=)
c.2079T= (p.Thr693=)
c.2076T= (p.Thr692=)
c.2064T= (p.Thr688=)
11g.22272912G>ACA379923898ANO5n.175G>A
c.1708G>A (p.Val570Ile)
c.2116G>A (p.Val706Ile)
n.3152G>A
c.2113G>A (p.Val705Ile)
c.2158G>A (p.Val720Ile)
n.2493G>A
c.2155G>A (p.Val719Ile)
c.2080G>A (p.Val694Ile)
c.2077G>A (p.Val693Ile)
c.2065G>A (p.Val689Ile)
11g.22272912G>CCA5923467ANO5n.175G>C
c.1708G>C (p.Val570Leu)
c.2116G>C (p.Val706Leu)
n.3152G>C
c.2113G>C (p.Val705Leu)
c.2158G>C (p.Val720Leu)
n.2493G>C
c.2155G>C (p.Val719Leu)
c.2080G>C (p.Val694Leu)
c.2077G>C (p.Val693Leu)
c.2065G>C (p.Val689Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272912G=CA1957403003ANO5n.175G=
c.1708G= (p.Val570=)
c.2116G= (p.Val706=)
n.3152G=
c.2113G= (p.Val705=)
c.2158G= (p.Val720=)
n.2493G=
c.2155G= (p.Val719=)
c.2080G= (p.Val694=)
c.2077G= (p.Val693=)
c.2065G= (p.Val689=)
11g.22272912G>TCA379923897ANO5n.175G>T
c.1708G>T (p.Val570Leu)
c.2116G>T (p.Val706Leu)
n.3152G>T
c.2113G>T (p.Val705Leu)
c.2158G>T (p.Val720Leu)
n.2493G>T
c.2155G>T (p.Val719Leu)
c.2080G>T (p.Val694Leu)
c.2077G>T (p.Val693Leu)
c.2065G>T (p.Val689Leu)
11g.22272913T>ACA379923899ANO5n.176T>A
c.1709T>A (p.Val570Glu)
c.2117T>A (p.Val706Glu)
n.3153T>A
c.2114T>A (p.Val705Glu)
c.2159T>A (p.Val720Glu)
n.2494T>A
c.2156T>A (p.Val719Glu)
c.2081T>A (p.Val694Glu)
c.2078T>A (p.Val693Glu)
c.2066T>A (p.Val689Glu)
11g.22272913T>CCA379923901ANO5n.176T>C
c.1709T>C (p.Val570Ala)
c.2117T>C (p.Val706Ala)
n.3153T>C
c.2114T>C (p.Val705Ala)
c.2159T>C (p.Val720Ala)
n.2494T>C
c.2156T>C (p.Val719Ala)
c.2081T>C (p.Val694Ala)
c.2078T>C (p.Val693Ala)
c.2066T>C (p.Val689Ala)
11g.22272913T>GCA379923900ANO5n.176T>G
c.1709T>G (p.Val570Gly)
c.2117T>G (p.Val706Gly)
n.3153T>G
c.2114T>G (p.Val705Gly)
c.2159T>G (p.Val720Gly)
n.2494T>G
c.2156T>G (p.Val719Gly)
c.2081T>G (p.Val694Gly)
c.2078T>G (p.Val693Gly)
c.2066T>G (p.Val689Gly)
11g.22272914A=CA1957403007ANO5n.177A=
c.1710A= (p.Val570=)
c.2118A= (p.Val706=)
n.3154A=
c.2115A= (p.Val705=)
c.2160A= (p.Val720=)
n.2495A=
c.2157A= (p.Val719=)
c.2082A= (p.Val694=)
c.2079A= (p.Val693=)
c.2067A= (p.Val689=)
11g.22272914A>CCA473407566ANO5n.177A>C
c.1710A>C (p.Val570=)
c.2118A>C (p.Val706=)
n.3154A>C
c.2115A>C (p.Val705=)
c.2160A>C (p.Val720=)
n.2495A>C
c.2157A>C (p.Val719=)
c.2082A>C (p.Val694=)
c.2079A>C (p.Val693=)
c.2067A>C (p.Val689=)
11g.22272914A>GCA473407565ANO5n.177A>G
c.1710A>G (p.Val570=)
c.2118A>G (p.Val706=)
n.3154A>G
c.2115A>G (p.Val705=)
c.2160A>G (p.Val720=)
n.2495A>G
c.2157A>G (p.Val719=)
c.2082A>G (p.Val694=)
c.2079A>G (p.Val693=)
c.2067A>G (p.Val689=)
 dbSNP gnomAD v2 gnomAD v4
11g.22272914A>TCA473407562ANO5n.177A>T
c.1710A>T (p.Val570=)
c.2118A>T (p.Val706=)
n.3154A>T
c.2115A>T (p.Val705=)
c.2160A>T (p.Val720=)
n.2495A>T
c.2157A>T (p.Val719=)
c.2082A>T (p.Val694=)
c.2079A>T (p.Val693=)
c.2067A>T (p.Val689=)
11g.22272915G>ACA379923902ANO5n.178G>A
c.1711G>A (p.Ala571Thr)
c.2119G>A (p.Ala707Thr)
n.3155G>A
c.2116G>A (p.Ala706Thr)
c.2161G>A (p.Ala721Thr)
n.2496G>A
c.2158G>A (p.Ala720Thr)
c.2083G>A (p.Ala695Thr)
c.2080G>A (p.Ala694Thr)
c.2068G>A (p.Ala690Thr)
11g.22272915G>CCA379923904ANO5n.178G>C
c.1711G>C (p.Ala571Pro)
c.2119G>C (p.Ala707Pro)
n.3155G>C
c.2116G>C (p.Ala706Pro)
c.2161G>C (p.Ala721Pro)
n.2496G>C
c.2158G>C (p.Ala720Pro)
c.2083G>C (p.Ala695Pro)
c.2080G>C (p.Ala694Pro)
c.2068G>C (p.Ala690Pro)
 gnomAD v4 COSMIC
11g.22272915G>TCA379923903ANO5n.178G>T
c.1711G>T (p.Ala571Ser)
c.2119G>T (p.Ala707Ser)
n.3155G>T
c.2116G>T (p.Ala706Ser)
c.2161G>T (p.Ala721Ser)
n.2496G>T
c.2158G>T (p.Ala720Ser)
c.2083G>T (p.Ala695Ser)
c.2080G>T (p.Ala694Ser)
c.2068G>T (p.Ala690Ser)
11g.22272916C>ACA379923905ANO5n.179C>A
c.1712C>A (p.Ala571Asp)
c.2120C>A (p.Ala707Asp)
n.3156C>A
c.2117C>A (p.Ala706Asp)
c.2162C>A (p.Ala721Asp)
n.2497C>A
c.2159C>A (p.Ala720Asp)
c.2084C>A (p.Ala695Asp)
c.2081C>A (p.Ala694Asp)
c.2069C>A (p.Ala690Asp)
11g.22272916C>GCA379923907ANO5n.179C>G
c.1712C>G (p.Ala571Gly)
c.2120C>G (p.Ala707Gly)
n.3156C>G
c.2117C>G (p.Ala706Gly)
c.2162C>G (p.Ala721Gly)
n.2497C>G
c.2159C>G (p.Ala720Gly)
c.2084C>G (p.Ala695Gly)
c.2081C>G (p.Ala694Gly)
c.2069C>G (p.Ala690Gly)
11g.22272916C>TCA379923906ANO5n.179C>T
c.1712C>T (p.Ala571Val)
c.2120C>T (p.Ala707Val)
n.3156C>T
c.2117C>T (p.Ala706Val)
c.2162C>T (p.Ala721Val)
n.2497C>T
c.2159C>T (p.Ala720Val)
c.2084C>T (p.Ala695Val)
c.2081C>T (p.Ala694Val)
c.2069C>T (p.Ala690Val)
11g.22272917T>ACA473407569ANO5n.180T>A
c.1713T>A (p.Ala571=)
c.2121T>A (p.Ala707=)
n.3157T>A
c.2118T>A (p.Ala706=)
c.2163T>A (p.Ala721=)
n.2498T>A
c.2160T>A (p.Ala720=)
c.2085T>A (p.Ala695=)
c.2082T>A (p.Ala694=)
c.2070T>A (p.Ala690=)
11g.22272917T>CCA473407570ANO5n.180T>C
c.1713T>C (p.Ala571=)
c.2121T>C (p.Ala707=)
n.3157T>C
c.2118T>C (p.Ala706=)
c.2163T>C (p.Ala721=)
n.2498T>C
c.2160T>C (p.Ala720=)
c.2085T>C (p.Ala695=)
c.2082T>C (p.Ala694=)
c.2070T>C (p.Ala690=)
11g.22272917T>GCA473407571ANO5n.180T>G
c.1713T>G (p.Ala571=)
c.2121T>G (p.Ala707=)
n.3157T>G
c.2118T>G (p.Ala706=)
c.2163T>G (p.Ala721=)
n.2498T>G
c.2160T>G (p.Ala720=)
c.2085T>G (p.Ala695=)
c.2082T>G (p.Ala694=)
c.2070T>G (p.Ala690=)
11g.22272918T>ACA379923908ANO5n.181T>A
c.1714T>A (p.Ser572Thr)
c.2122T>A (p.Ser708Thr)
n.3158T>A
c.2119T>A (p.Ser707Thr)
c.2164T>A (p.Ser722Thr)
n.2499T>A
c.2161T>A (p.Ser721Thr)
c.2086T>A (p.Ser696Thr)
c.2083T>A (p.Ser695Thr)
c.2071T>A (p.Ser691Thr)
11g.22272918T>CCA379923909ANO5n.181T>C
c.1714T>C (p.Ser572Pro)
c.2122T>C (p.Ser708Pro)
n.3158T>C
c.2119T>C (p.Ser707Pro)
c.2164T>C (p.Ser722Pro)
n.2499T>C
c.2161T>C (p.Ser721Pro)
c.2086T>C (p.Ser696Pro)
c.2083T>C (p.Ser695Pro)
c.2071T>C (p.Ser691Pro)
11g.22272918T>GCA379923910ANO5n.181T>G
c.1714T>G (p.Ser572Ala)
c.2122T>G (p.Ser708Ala)
n.3158T>G
c.2119T>G (p.Ser707Ala)
c.2164T>G (p.Ser722Ala)
n.2499T>G
c.2161T>G (p.Ser721Ala)
c.2086T>G (p.Ser696Ala)
c.2083T>G (p.Ser695Ala)
c.2071T>G (p.Ser691Ala)
 gnomAD v4
11g.22272919C>ACA379923911ANO5n.182C>A
c.1715C>A (p.Ser572Tyr)
c.2123C>A (p.Ser708Tyr)
n.3159C>A
c.2120C>A (p.Ser707Tyr)
c.2165C>A (p.Ser722Tyr)
n.2500C>A
c.2162C>A (p.Ser721Tyr)
c.2087C>A (p.Ser696Tyr)
c.2084C>A (p.Ser695Tyr)
c.2072C>A (p.Ser691Tyr)
11g.22272919C>GCA379923912ANO5n.182C>G
c.1715C>G (p.Ser572Cys)
c.2123C>G (p.Ser708Cys)
n.3159C>G
c.2120C>G (p.Ser707Cys)
c.2165C>G (p.Ser722Cys)
n.2500C>G
c.2162C>G (p.Ser721Cys)
c.2087C>G (p.Ser696Cys)
c.2084C>G (p.Ser695Cys)
c.2072C>G (p.Ser691Cys)
11g.22272919C>TCA379923913ANO5n.182C>T
c.1715C>T (p.Ser572Phe)
c.2123C>T (p.Ser708Phe)
n.3159C>T
c.2120C>T (p.Ser707Phe)
c.2165C>T (p.Ser722Phe)
n.2500C>T
c.2162C>T (p.Ser721Phe)
c.2087C>T (p.Ser696Phe)
c.2084C>T (p.Ser695Phe)
c.2072C>T (p.Ser691Phe)
11g.22272920T>ACA473407577ANO5n.183T>A
c.1716T>A (p.Ser572=)
c.2124T>A (p.Ser708=)
n.3160T>A
c.2121T>A (p.Ser707=)
c.2166T>A (p.Ser722=)
n.2501T>A
c.2163T>A (p.Ser721=)
c.2088T>A (p.Ser696=)
c.2085T>A (p.Ser695=)
c.2073T>A (p.Ser691=)
11g.22272920T>CCA473407575ANO5n.183T>C
c.1716T>C (p.Ser572=)
c.2124T>C (p.Ser708=)
n.3160T>C
c.2121T>C (p.Ser707=)
c.2166T>C (p.Ser722=)
n.2501T>C
c.2163T>C (p.Ser721=)
c.2088T>C (p.Ser696=)
c.2085T>C (p.Ser695=)
c.2073T>C (p.Ser691=)
11g.22272920T>GCA473407576ANO5n.183T>G
c.1716T>G (p.Ser572=)
c.2124T>G (p.Ser708=)
n.3160T>G
c.2121T>G (p.Ser707=)
c.2166T>G (p.Ser722=)
n.2501T>G
c.2163T>G (p.Ser721=)
c.2088T>G (p.Ser696=)
c.2085T>G (p.Ser695=)
c.2073T>G (p.Ser691=)
11g.22272921A>CCA379923914ANO5n.184A>C
c.1717A>C (p.Lys573Gln)
c.2125A>C (p.Lys709Gln)
n.3161A>C
c.2122A>C (p.Lys708Gln)
c.2167A>C (p.Lys723Gln)
n.2502A>C
c.2164A>C (p.Lys722Gln)
c.2089A>C (p.Lys697Gln)
c.2086A>C (p.Lys696Gln)
c.2074A>C (p.Lys692Gln)
11g.22272921A>GCA379923915ANO5n.184A>G
c.1717A>G (p.Lys573Glu)
c.2125A>G (p.Lys709Glu)
n.3161A>G
c.2122A>G (p.Lys708Glu)
c.2167A>G (p.Lys723Glu)
n.2502A>G
c.2164A>G (p.Lys722Glu)
c.2089A>G (p.Lys697Glu)
c.2086A>G (p.Lys696Glu)
c.2074A>G (p.Lys692Glu)
11g.22272921A>TCA379923916ANO5n.184A>T
c.1717A>T (p.Lys573Ter)
c.2125A>T (p.Lys709Ter)
n.3161A>T
c.2122A>T (p.Lys708Ter)
c.2167A>T (p.Lys723Ter)
n.2502A>T
c.2164A>T (p.Lys722Ter)
c.2089A>T (p.Lys697Ter)
c.2086A>T (p.Lys696Ter)
c.2074A>T (p.Lys692Ter)
11g.22272922A=CA1957403034ANO5n.185A=
c.1718A= (p.Lys573=)
c.2126A= (p.Lys709=)
n.3162A=
c.2123A= (p.Lys708=)
c.2168A= (p.Lys723=)
n.2503A=
c.2165A= (p.Lys722=)
c.2090A= (p.Lys697=)
c.2087A= (p.Lys696=)
c.2075A= (p.Lys692=)
11g.22272922A>CCA379923919ANO5n.185A>C
c.1718A>C (p.Lys573Thr)
c.2126A>C (p.Lys709Thr)
n.3162A>C
c.2123A>C (p.Lys708Thr)
c.2168A>C (p.Lys723Thr)
n.2503A>C
c.2165A>C (p.Lys722Thr)
c.2090A>C (p.Lys697Thr)
c.2087A>C (p.Lys696Thr)
c.2075A>C (p.Lys692Thr)
 dbSNP
11g.22272922A>GCA379923918ANO5n.185A>G
c.1718A>G (p.Lys573Arg)
c.2126A>G (p.Lys709Arg)
n.3162A>G
c.2123A>G (p.Lys708Arg)
c.2168A>G (p.Lys723Arg)
n.2503A>G
c.2165A>G (p.Lys722Arg)
c.2090A>G (p.Lys697Arg)
c.2087A>G (p.Lys696Arg)
c.2075A>G (p.Lys692Arg)
 gnomAD v4
11g.22272922A>TCA379923917ANO5n.185A>T
c.1718A>T (p.Lys573Ile)
c.2126A>T (p.Lys709Ile)
n.3162A>T
c.2123A>T (p.Lys708Ile)
c.2168A>T (p.Lys723Ile)
n.2503A>T
c.2165A>T (p.Lys722Ile)
c.2090A>T (p.Lys697Ile)
c.2087A>T (p.Lys696Ile)
c.2075A>T (p.Lys692Ile)
11g.22272922_22272929delinsAAGCTCATCA1957403012ANO5n.185_192delinsAAGCTCAT
c.1718_1725delinsAAGCTCAT (p.Lys573=)
c.2126_2133delinsAAGCTCAT (p.Lys709=)
n.3162_3169delinsAAGCTCAT
c.2123_2130delinsAAGCTCAT (p.Lys708=)
c.2168_2175delinsAAGCTCAT (p.Lys723=)
n.2503_2510delinsAAGCTCAT
c.2165_2172delinsAAGCTCAT (p.Lys722=)
c.2090_2097delinsAAGCTCAT (p.Lys697=)
c.2087_2094delinsAAGCTCAT (p.Lys696=)
c.2075_2082delinsAAGCTCAT (p.Lys692=)
11g.22272923A>CCA379923920ANO5n.186A>C
c.1719A>C (p.Lys573Asn)
c.2127A>C (p.Lys709Asn)
n.3163A>C
c.2124A>C (p.Lys708Asn)
c.2169A>C (p.Lys723Asn)
n.2504A>C
c.2166A>C (p.Lys722Asn)
c.2091A>C (p.Lys697Asn)
c.2088A>C (p.Lys696Asn)
c.2076A>C (p.Lys692Asn)
11g.22272923A>GCA473407582ANO5n.186A>G
c.1719A>G (p.Lys573=)
c.2127A>G (p.Lys709=)
n.3163A>G
c.2124A>G (p.Lys708=)
c.2169A>G (p.Lys723=)
n.2504A>G
c.2166A>G (p.Lys722=)
c.2091A>G (p.Lys697=)
c.2088A>G (p.Lys696=)
c.2076A>G (p.Lys692=)
11g.22272923A>TCA379923921ANO5n.186A>T
c.1719A>T (p.Lys573Asn)
c.2127A>T (p.Lys709Asn)
n.3163A>T
c.2124A>T (p.Lys708Asn)
c.2169A>T (p.Lys723Asn)
n.2504A>T
c.2166A>T (p.Lys722Asn)
c.2091A>T (p.Lys697Asn)
c.2088A>T (p.Lys696Asn)
c.2076A>T (p.Lys692Asn)
11g.22272926_22272932delCA201498ANO5n.189_195del
c.1722_1728del (p.His575Ter)
c.2130_2136del (p.His711Ter)
n.3166_3172del
c.2127_2133del (p.His710Ter)
c.2172_2178del (p.His725Ter)
n.2507_2513del
c.2169_2175del (p.His724Ter)
c.2094_2100del (p.His699Ter)
c.2091_2097del (p.His698Ter)
c.2079_2085del (p.His694Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272924G>ACA379923922ANO5n.187G>A
c.1720G>A (p.Ala574Thr)
c.2128G>A (p.Ala710Thr)
n.3164G>A
c.2125G>A (p.Ala709Thr)
c.2170G>A (p.Ala724Thr)
n.2505G>A
c.2167G>A (p.Ala723Thr)
c.2092G>A (p.Ala698Thr)
c.2089G>A (p.Ala697Thr)
c.2077G>A (p.Ala693Thr)
 ClinVar gnomAD v4
11g.22272924G>CCA379923923ANO5n.187G>C
c.1720G>C (p.Ala574Pro)
c.2128G>C (p.Ala710Pro)
n.3164G>C
c.2125G>C (p.Ala709Pro)
c.2170G>C (p.Ala724Pro)
n.2505G>C
c.2167G>C (p.Ala723Pro)
c.2092G>C (p.Ala698Pro)
c.2089G>C (p.Ala697Pro)
c.2077G>C (p.Ala693Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272924G=CA1957403045ANO5n.187G=
c.1720G= (p.Ala574=)
c.2128G= (p.Ala710=)
n.3164G=
c.2125G= (p.Ala709=)
c.2170G= (p.Ala724=)
n.2505G=
c.2167G= (p.Ala723=)
c.2092G= (p.Ala698=)
c.2089G= (p.Ala697=)
c.2077G= (p.Ala693=)
11g.22272924G>TCA379923924ANO5n.187G>T
c.1720G>T (p.Ala574Ser)
c.2128G>T (p.Ala710Ser)
n.3164G>T
c.2125G>T (p.Ala709Ser)
c.2170G>T (p.Ala724Ser)
n.2505G>T
c.2167G>T (p.Ala723Ser)
c.2092G>T (p.Ala698Ser)
c.2089G>T (p.Ala697Ser)
c.2077G>T (p.Ala693Ser)
11g.22272925C>ACA379923925ANO5n.188C>A
c.1721C>A (p.Ala574Asp)
c.2129C>A (p.Ala710Asp)
n.3165C>A
c.2126C>A (p.Ala709Asp)
c.2171C>A (p.Ala724Asp)
n.2506C>A
c.2168C>A (p.Ala723Asp)
c.2093C>A (p.Ala698Asp)
c.2090C>A (p.Ala697Asp)
c.2078C>A (p.Ala693Asp)
11g.22272925C>GCA379923926ANO5n.188C>G
c.1721C>G (p.Ala574Gly)
c.2129C>G (p.Ala710Gly)
n.3165C>G
c.2126C>G (p.Ala709Gly)
c.2171C>G (p.Ala724Gly)
n.2506C>G
c.2168C>G (p.Ala723Gly)
c.2093C>G (p.Ala698Gly)
c.2090C>G (p.Ala697Gly)
c.2078C>G (p.Ala693Gly)
11g.22272925C>TCA379923927ANO5n.188C>T
c.1721C>T (p.Ala574Val)
c.2129C>T (p.Ala710Val)
n.3165C>T
c.2126C>T (p.Ala709Val)
c.2171C>T (p.Ala724Val)
n.2506C>T
c.2168C>T (p.Ala723Val)
c.2093C>T (p.Ala698Val)
c.2090C>T (p.Ala697Val)
c.2078C>T (p.Ala693Val)
11g.22272926T>ACA473407588ANO5n.189T>A
c.1722T>A (p.Ala574=)
c.2130T>A (p.Ala710=)
n.3166T>A
c.2127T>A (p.Ala709=)
c.2172T>A (p.Ala724=)
n.2507T>A
c.2169T>A (p.Ala723=)
c.2094T>A (p.Ala698=)
c.2091T>A (p.Ala697=)
c.2079T>A (p.Ala693=)
11g.22272926T>CCA473407590ANO5n.189T>C
c.1722T>C (p.Ala574=)
c.2130T>C (p.Ala710=)
n.3166T>C
c.2127T>C (p.Ala709=)
c.2172T>C (p.Ala724=)
n.2507T>C
c.2169T>C (p.Ala723=)
c.2094T>C (p.Ala698=)
c.2091T>C (p.Ala697=)
c.2079T>C (p.Ala693=)
11g.22272926T>GCA473407591ANO5n.189T>G
c.1722T>G (p.Ala574=)
c.2130T>G (p.Ala710=)
n.3166T>G
c.2127T>G (p.Ala709=)
c.2172T>G (p.Ala724=)
n.2507T>G
c.2169T>G (p.Ala723=)
c.2094T>G (p.Ala698=)
c.2091T>G (p.Ala697=)
c.2079T>G (p.Ala693=)
11g.22272926T=CA1957403048ANO5n.189T=
c.1722T= (p.Ala574=)
c.2130T= (p.Ala710=)
n.3166T=
c.2127T= (p.Ala709=)
c.2172T= (p.Ala724=)
n.2507T=
c.2169T= (p.Ala723=)
c.2094T= (p.Ala698=)
c.2091T= (p.Ala697=)
c.2079T= (p.Ala693=)
11g.22272927C>ACA379923929ANO5n.190C>A
c.1723C>A (p.His575Asn)
c.2131C>A (p.His711Asn)
n.3167C>A
c.2128C>A (p.His710Asn)
c.2173C>A (p.His725Asn)
n.2508C>A
c.2170C>A (p.His724Asn)
c.2095C>A (p.His699Asn)
c.2092C>A (p.His698Asn)
c.2080C>A (p.His694Asn)
 ClinVar
11g.22272927C>GCA379923930ANO5n.190C>G
c.1723C>G (p.His575Asp)
c.2131C>G (p.His711Asp)
n.3167C>G
c.2128C>G (p.His710Asp)
c.2173C>G (p.His725Asp)
n.2508C>G
c.2170C>G (p.His724Asp)
c.2095C>G (p.His699Asp)
c.2092C>G (p.His698Asp)
c.2080C>G (p.His694Asp)
11g.22272927C>TCA379923928ANO5n.190C>T
c.1723C>T (p.His575Tyr)
c.2131C>T (p.His711Tyr)
n.3167C>T
c.2128C>T (p.His710Tyr)
c.2173C>T (p.His725Tyr)
n.2508C>T
c.2170C>T (p.His724Tyr)
c.2095C>T (p.His699Tyr)
c.2092C>T (p.His698Tyr)
c.2080C>T (p.His694Tyr)
11g.22272927_22272928dupCA674655011ANO5n.190_191dup
c.1723_1724dup (p.Ser576IlefsTer3)
c.2131_2132dup (p.Ser712IlefsTer3)
n.3167_3168dup
c.2128_2129dup (p.Ser711IlefsTer3)
c.2173_2174dup (p.Ser726IlefsTer3)
n.2508_2509dup
c.2170_2171dup (p.Ser725IlefsTer3)
c.2095_2096dup (p.Ser700IlefsTer3)
c.2092_2093dup (p.Ser699IlefsTer3)
c.2080_2081dup (p.Ser695IlefsTer3)
 dbSNP gnomAD v4
11g.22272928A=CA1957403059ANO5n.191A=
c.1724A= (p.His575=)
c.2132A= (p.His711=)
n.3168A=
c.2129A= (p.His710=)
c.2174A= (p.His725=)
n.2509A=
c.2171A= (p.His724=)
c.2096A= (p.His699=)
c.2093A= (p.His698=)
c.2081A= (p.His694=)
11g.22272928A>CCA379923931ANO5n.191A>C
c.1724A>C (p.His575Pro)
c.2132A>C (p.His711Pro)
n.3168A>C
c.2129A>C (p.His710Pro)
c.2174A>C (p.His725Pro)
n.2509A>C
c.2171A>C (p.His724Pro)
c.2096A>C (p.His699Pro)
c.2093A>C (p.His698Pro)
c.2081A>C (p.His694Pro)
11g.22272928A>GCA379923932ANO5n.191A>G
c.1724A>G (p.His575Arg)
c.2132A>G (p.His711Arg)
n.3168A>G
c.2129A>G (p.His710Arg)
c.2174A>G (p.His725Arg)
n.2509A>G
c.2171A>G (p.His724Arg)
c.2096A>G (p.His699Arg)
c.2093A>G (p.His698Arg)
c.2081A>G (p.His694Arg)
 dbSNP
11g.22272928A>TCA379923933ANO5n.191A>T
c.1724A>T (p.His575Leu)
c.2132A>T (p.His711Leu)
n.3168A>T
c.2129A>T (p.His710Leu)
c.2174A>T (p.His725Leu)
n.2509A>T
c.2171A>T (p.His724Leu)
c.2096A>T (p.His699Leu)
c.2093A>T (p.His698Leu)
c.2081A>T (p.His694Leu)
11g.22272929T>ACA379923934ANO5n.192T>A
c.1725T>A (p.His575Gln)
c.2133T>A (p.His711Gln)
n.3169T>A
c.2130T>A (p.His710Gln)
c.2175T>A (p.His725Gln)
n.2510T>A
c.2172T>A (p.His724Gln)
c.2097T>A (p.His699Gln)
c.2094T>A (p.His698Gln)
c.2082T>A (p.His694Gln)
11g.22272929T>CCA16606911ANO5n.192T>C
c.1725T>C (p.His575=)
c.2133T>C (p.His711=)
n.3169T>C
c.2130T>C (p.His710=)
c.2175T>C (p.His725=)
n.2510T>C
c.2172T>C (p.His724=)
c.2097T>C (p.His699=)
c.2094T>C (p.His698=)
c.2082T>C (p.His694=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272929T>GCA379923935ANO5n.192T>G
c.1725T>G (p.His575Gln)
c.2133T>G (p.His711Gln)
n.3169T>G
c.2130T>G (p.His710Gln)
c.2175T>G (p.His725Gln)
n.2510T>G
c.2172T>G (p.His724Gln)
c.2097T>G (p.His699Gln)
c.2094T>G (p.His698Gln)
c.2082T>G (p.His694Gln)
11g.22272929T=CA1957403062ANO5n.192T=
c.1725T= (p.His575=)
c.2133T= (p.His711=)
n.3169T=
c.2130T= (p.His710=)
c.2175T= (p.His725=)
n.2510T=
c.2172T= (p.His724=)
c.2097T= (p.His699=)
c.2094T= (p.His698=)
c.2082T= (p.His694=)
11g.22272930A=CA1957403082ANO5n.193A=
c.1726A= (p.Ser576=)
c.2134A= (p.Ser712=)
n.3170A=
c.2131A= (p.Ser711=)
c.2176A= (p.Ser726=)
n.2511A=
c.2173A= (p.Ser725=)
c.2098A= (p.Ser700=)
c.2095A= (p.Ser699=)
c.2083A= (p.Ser695=)
11g.22272930A>CCA379923938ANO5n.193A>C
c.1726A>C (p.Ser576Arg)
c.2134A>C (p.Ser712Arg)
n.3170A>C
c.2131A>C (p.Ser711Arg)
c.2176A>C (p.Ser726Arg)
n.2511A>C
c.2173A>C (p.Ser725Arg)
c.2098A>C (p.Ser700Arg)
c.2095A>C (p.Ser699Arg)
c.2083A>C (p.Ser695Arg)
11g.22272930A>GCA379923936ANO5n.193A>G
c.1726A>G (p.Ser576Gly)
c.2134A>G (p.Ser712Gly)
n.3170A>G
c.2131A>G (p.Ser711Gly)
c.2176A>G (p.Ser726Gly)
n.2511A>G
c.2173A>G (p.Ser725Gly)
c.2098A>G (p.Ser700Gly)
c.2095A>G (p.Ser699Gly)
c.2083A>G (p.Ser695Gly)
11g.22272930A>TCA379923937ANO5n.193A>T
c.1726A>T (p.Ser576Cys)
c.2134A>T (p.Ser712Cys)
n.3170A>T
c.2131A>T (p.Ser711Cys)
c.2176A>T (p.Ser726Cys)
n.2511A>T
c.2173A>T (p.Ser725Cys)
c.2098A>T (p.Ser700Cys)
c.2095A>T (p.Ser699Cys)
c.2083A>T (p.Ser695Cys)
11g.22272930dupCA201499ANO5n.193dup
c.1726dup (p.Ser576LysfsTer20)
c.2134dup (p.Ser712LysfsTer20)
n.3170dup
c.2131dup (p.Ser711LysfsTer20)
c.2176dup (p.Ser726LysfsTer20)
n.2511dup
c.2173dup (p.Ser725LysfsTer20)
c.2098dup (p.Ser700LysfsTer20)
c.2095dup (p.Ser699LysfsTer20)
c.2083dup (p.Ser695LysfsTer20)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272931G>ACA379923939ANO5n.194G>A
c.1727G>A (p.Ser576Asn)
c.2135G>A (p.Ser712Asn)
n.3171G>A
c.2132G>A (p.Ser711Asn)
c.2177G>A (p.Ser726Asn)
n.2512G>A
c.2174G>A (p.Ser725Asn)
c.2099G>A (p.Ser700Asn)
c.2096G>A (p.Ser699Asn)
c.2084G>A (p.Ser695Asn)
 dbSNP gnomAD v4 COSMIC
11g.22272931G>CCA379923940ANO5n.194G>C
c.1727G>C (p.Ser576Thr)
c.2135G>C (p.Ser712Thr)
n.3171G>C
c.2132G>C (p.Ser711Thr)
c.2177G>C (p.Ser726Thr)
n.2512G>C
c.2174G>C (p.Ser725Thr)
c.2099G>C (p.Ser700Thr)
c.2096G>C (p.Ser699Thr)
c.2084G>C (p.Ser695Thr)
11g.22272931G=CA1957403083ANO5n.194G=
c.1727G= (p.Ser576=)
c.2135G= (p.Ser712=)
n.3171G=
c.2132G= (p.Ser711=)
c.2177G= (p.Ser726=)
n.2512G=
c.2174G= (p.Ser725=)
c.2099G= (p.Ser700=)
c.2096G= (p.Ser699=)
c.2084G= (p.Ser695=)
11g.22272931G>TCA379923941ANO5n.194G>T
c.1727G>T (p.Ser576Ile)
c.2135G>T (p.Ser712Ile)
n.3171G>T
c.2132G>T (p.Ser711Ile)
c.2177G>T (p.Ser726Ile)
n.2512G>T
c.2174G>T (p.Ser725Ile)
c.2099G>T (p.Ser700Ile)
c.2096G>T (p.Ser699Ile)
c.2084G>T (p.Ser695Ile)
11g.22272931_22272932dupCA674655034ANO5n.194_195dup
c.1727_1728dup (p.Ile577AlafsTer2)
c.2135_2136dup (p.Ile713AlafsTer2)
n.3171_3172dup
c.2132_2133dup (p.Ile712AlafsTer2)
c.2177_2178dup (p.Ile727AlafsTer2)
n.2512_2513dup
c.2174_2175dup (p.Ile726AlafsTer2)
c.2099_2100dup (p.Ile701AlafsTer2)
c.2096_2097dup (p.Ile700AlafsTer2)
c.2084_2085dup (p.Ile696AlafsTer2)
 dbSNP
11g.22272932C>ACA379923942ANO5n.195C>A
c.1728C>A (p.Ser576Arg)
c.2136C>A (p.Ser712Arg)
n.3172C>A
c.2133C>A (p.Ser711Arg)
c.2178C>A (p.Ser726Arg)
n.2513C>A
c.2175C>A (p.Ser725Arg)
c.2100C>A (p.Ser700Arg)
c.2097C>A (p.Ser699Arg)
c.2085C>A (p.Ser695Arg)
 dbSNP
11g.22272932C=CA1957403084ANO5n.195C=
c.1728C= (p.Ser576=)
c.2136C= (p.Ser712=)
n.3172C=
c.2133C= (p.Ser711=)
c.2178C= (p.Ser726=)
n.2513C=
c.2175C= (p.Ser725=)
c.2100C= (p.Ser700=)
c.2097C= (p.Ser699=)
c.2085C= (p.Ser695=)
11g.22272932C>GCA379923943ANO5n.195C>G
c.1728C>G (p.Ser576Arg)
c.2136C>G (p.Ser712Arg)
n.3172C>G
c.2133C>G (p.Ser711Arg)
c.2178C>G (p.Ser726Arg)
n.2513C>G
c.2175C>G (p.Ser725Arg)
c.2100C>G (p.Ser700Arg)
c.2097C>G (p.Ser699Arg)
c.2085C>G (p.Ser695Arg)
11g.22272932C>TCA473407598ANO5n.195C>T
c.1728C>T (p.Ser576=)
c.2136C>T (p.Ser712=)
n.3172C>T
c.2133C>T (p.Ser711=)
c.2178C>T (p.Ser726=)
n.2513C>T
c.2175C>T (p.Ser725=)
c.2100C>T (p.Ser700=)
c.2097C>T (p.Ser699=)
c.2085C>T (p.Ser695=)
11g.22272933A=CA1957403085ANO5n.196A=
c.1729A= (p.Ile577=)
c.2137A= (p.Ile713=)
n.3173A=
c.2134A= (p.Ile712=)
c.2179A= (p.Ile727=)
n.2514A=
c.2176A= (p.Ile726=)
c.2101A= (p.Ile701=)
c.2098A= (p.Ile700=)
c.2086A= (p.Ile696=)
11g.22272933A>CCA379923944ANO5n.196A>C
c.1729A>C (p.Ile577Leu)
c.2137A>C (p.Ile713Leu)
n.3173A>C
c.2134A>C (p.Ile712Leu)
c.2179A>C (p.Ile727Leu)
n.2514A>C
c.2176A>C (p.Ile726Leu)
c.2101A>C (p.Ile701Leu)
c.2098A>C (p.Ile700Leu)
c.2086A>C (p.Ile696Leu)
11g.22272933A>GCA218775888ANO5n.196A>G
c.1729A>G (p.Ile577Val)
c.2137A>G (p.Ile713Val)
n.3173A>G
c.2134A>G (p.Ile712Val)
c.2179A>G (p.Ile727Val)
n.2514A>G
c.2176A>G (p.Ile726Val)
c.2101A>G (p.Ile701Val)
c.2098A>G (p.Ile700Val)
c.2086A>G (p.Ile696Val)
 ClinVar dbSNP gnomAD v4
11g.22272933A>TCA379923945ANO5n.196A>T
c.1729A>T (p.Ile577Leu)
c.2137A>T (p.Ile713Leu)
n.3173A>T
c.2134A>T (p.Ile712Leu)
c.2179A>T (p.Ile727Leu)
n.2514A>T
c.2176A>T (p.Ile726Leu)
c.2101A>T (p.Ile701Leu)
c.2098A>T (p.Ile700Leu)
c.2086A>T (p.Ile696Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272934T>ACA379923946ANO5n.197T>A
c.1730T>A (p.Ile577Lys)
c.2138T>A (p.Ile713Lys)
n.3174T>A
c.2135T>A (p.Ile712Lys)
c.2180T>A (p.Ile727Lys)
n.2515T>A
c.2177T>A (p.Ile726Lys)
c.2102T>A (p.Ile701Lys)
c.2099T>A (p.Ile700Lys)
c.2087T>A (p.Ile696Lys)
11g.22272934T>CCA5923468ANO5n.197T>C
c.1730T>C (p.Ile577Thr)
c.2138T>C (p.Ile713Thr)
n.3174T>C
c.2135T>C (p.Ile712Thr)
c.2180T>C (p.Ile727Thr)
n.2515T>C
c.2177T>C (p.Ile726Thr)
c.2102T>C (p.Ile701Thr)
c.2099T>C (p.Ile700Thr)
c.2087T>C (p.Ile696Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272934T>GCA379923947ANO5n.197T>G
c.1730T>G (p.Ile577Arg)
c.2138T>G (p.Ile713Arg)
n.3174T>G
c.2135T>G (p.Ile712Arg)
c.2180T>G (p.Ile727Arg)
n.2515T>G
c.2177T>G (p.Ile726Arg)
c.2102T>G (p.Ile701Arg)
c.2099T>G (p.Ile700Arg)
c.2087T>G (p.Ile696Arg)
11g.22272934T=CA1957403086ANO5n.197T=
c.1730T= (p.Ile577=)
c.2138T= (p.Ile713=)
n.3174T=
c.2135T= (p.Ile712=)
c.2180T= (p.Ile727=)
n.2515T=
c.2177T= (p.Ile726=)
c.2102T= (p.Ile701=)
c.2099T= (p.Ile700=)
c.2087T= (p.Ile696=)
11g.22272935A>CCA473407604ANO5n.198A>C
c.1731A>C (p.Ile577=)
c.2139A>C (p.Ile713=)
n.3175A>C
c.2136A>C (p.Ile712=)
c.2181A>C (p.Ile727=)
n.2516A>C
c.2178A>C (p.Ile726=)
c.2103A>C (p.Ile701=)
c.2100A>C (p.Ile700=)
c.2088A>C (p.Ile696=)
11g.22272935A>GCA379923948ANO5n.198A>G
c.1731A>G (p.Ile577Met)
c.2139A>G (p.Ile713Met)
n.3175A>G
c.2136A>G (p.Ile712Met)
c.2181A>G (p.Ile727Met)
n.2516A>G
c.2178A>G (p.Ile726Met)
c.2103A>G (p.Ile701Met)
c.2100A>G (p.Ile700Met)
c.2088A>G (p.Ile696Met)
 ClinVar dbSNP gnomAD v4
11g.22272935A>TCA473407603ANO5n.198A>T
c.1731A>T (p.Ile577=)
c.2139A>T (p.Ile713=)
n.3175A>T
c.2136A>T (p.Ile712=)
c.2181A>T (p.Ile727=)
n.2516A>T
c.2178A>T (p.Ile726=)
c.2103A>T (p.Ile701=)
c.2100A>T (p.Ile700=)
c.2088A>T (p.Ile696=)
11g.22272936G>ACA379923949ANO5n.199G>A
c.1732G>A (p.Gly578Ser)
c.2140G>A (p.Gly714Ser)
n.3176G>A
c.2137G>A (p.Gly713Ser)
c.2182G>A (p.Gly728Ser)
n.2517G>A
c.2179G>A (p.Gly727Ser)
c.2104G>A (p.Gly702Ser)
c.2101G>A (p.Gly701Ser)
c.2089G>A (p.Gly697Ser)
 gnomAD v4
11g.22272936G>CCA379923950ANO5n.199G>C
c.1732G>C (p.Gly578Arg)
c.2140G>C (p.Gly714Arg)
n.3176G>C
c.2137G>C (p.Gly713Arg)
c.2182G>C (p.Gly728Arg)
n.2517G>C
c.2179G>C (p.Gly727Arg)
c.2104G>C (p.Gly702Arg)
c.2101G>C (p.Gly701Arg)
c.2089G>C (p.Gly697Arg)
11g.22272936G>TCA379923951ANO5n.199G>T
c.1732G>T (p.Gly578Cys)
c.2140G>T (p.Gly714Cys)
n.3176G>T
c.2137G>T (p.Gly713Cys)
c.2182G>T (p.Gly728Cys)
n.2517G>T
c.2179G>T (p.Gly727Cys)
c.2104G>T (p.Gly702Cys)
c.2101G>T (p.Gly701Cys)
c.2089G>T (p.Gly697Cys)
11g.22272937G>ACA5923469ANO5n.200G>A
c.1733G>A (p.Gly578Asp)
c.2141G>A (p.Gly714Asp)
n.3177G>A
c.2138G>A (p.Gly713Asp)
c.2183G>A (p.Gly728Asp)
n.2518G>A
c.2180G>A (p.Gly727Asp)
c.2105G>A (p.Gly702Asp)
c.2102G>A (p.Gly701Asp)
c.2090G>A (p.Gly697Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272937G>CCA379923952ANO5n.200G>C
c.1733G>C (p.Gly578Ala)
c.2141G>C (p.Gly714Ala)
n.3177G>C
c.2138G>C (p.Gly713Ala)
c.2183G>C (p.Gly728Ala)
n.2518G>C
c.2180G>C (p.Gly727Ala)
c.2105G>C (p.Gly702Ala)
c.2102G>C (p.Gly701Ala)
c.2090G>C (p.Gly697Ala)
11g.22272937G=CA1957403087ANO5n.200G=
c.1733G= (p.Gly578=)
c.2141G= (p.Gly714=)
n.3177G=
c.2138G= (p.Gly713=)
c.2183G= (p.Gly728=)
n.2518G=
c.2180G= (p.Gly727=)
c.2105G= (p.Gly702=)
c.2102G= (p.Gly701=)
c.2090G= (p.Gly697=)
11g.22272937G>TCA379923953ANO5n.200G>T
c.1733G>T (p.Gly578Val)
c.2141G>T (p.Gly714Val)
n.3177G>T
c.2138G>T (p.Gly713Val)
c.2183G>T (p.Gly728Val)
n.2518G>T
c.2180G>T (p.Gly727Val)
c.2105G>T (p.Gly702Val)
c.2102G>T (p.Gly701Val)
c.2090G>T (p.Gly697Val)
11g.22272938T>ACA473407606ANO5n.201T>A
c.1734T>A (p.Gly578=)
c.2142T>A (p.Gly714=)
n.3178T>A
c.2139T>A (p.Gly713=)
c.2184T>A (p.Gly728=)
n.2519T>A
c.2181T>A (p.Gly727=)
c.2106T>A (p.Gly702=)
c.2103T>A (p.Gly701=)
c.2091T>A (p.Gly697=)
11g.22272938T>CCA473407607ANO5n.201T>C
c.1734T>C (p.Gly578=)
c.2142T>C (p.Gly714=)
n.3178T>C
c.2139T>C (p.Gly713=)
c.2184T>C (p.Gly728=)
n.2519T>C
c.2181T>C (p.Gly727=)
c.2106T>C (p.Gly702=)
c.2103T>C (p.Gly701=)
c.2091T>C (p.Gly697=)
11g.22272938T>GCA473407609ANO5n.201T>G
c.1734T>G (p.Gly578=)
c.2142T>G (p.Gly714=)
n.3178T>G
c.2139T>G (p.Gly713=)
c.2184T>G (p.Gly728=)
n.2519T>G
c.2181T>G (p.Gly727=)
c.2106T>G (p.Gly702=)
c.2103T>G (p.Gly701=)
c.2091T>G (p.Gly697=)
11g.22272938dupCA5923470ANO5n.201dup
c.1734dup (p.Val579CysfsTer17)
c.2142dup (p.Val715CysfsTer17)
n.3178dup
c.2139dup (p.Val714CysfsTer17)
c.2184dup (p.Val729CysfsTer17)
n.2519dup
c.2181dup (p.Val728CysfsTer17)
c.2106dup (p.Val703CysfsTer17)
c.2103dup (p.Val702CysfsTer17)
c.2091dup (p.Val698CysfsTer17)
 dbSNP ExAC gnomAD v4
11g.22272939G>ACA5923471ANO5n.202G>A
c.1735G>A (p.Val579Ile)
c.2143G>A (p.Val715Ile)
n.3179G>A
c.2140G>A (p.Val714Ile)
c.2185G>A (p.Val729Ile)
n.2520G>A
c.2182G>A (p.Val728Ile)
c.2107G>A (p.Val703Ile)
c.2104G>A (p.Val702Ile)
c.2092G>A (p.Val698Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272939G>CCA379923955ANO5n.202G>C
c.1735G>C (p.Val579Leu)
c.2143G>C (p.Val715Leu)
n.3179G>C
c.2140G>C (p.Val714Leu)
c.2185G>C (p.Val729Leu)
n.2520G>C
c.2182G>C (p.Val728Leu)
c.2107G>C (p.Val703Leu)
c.2104G>C (p.Val702Leu)
c.2092G>C (p.Val698Leu)
11g.22272939G=CA1957403091ANO5n.202G=
c.1735G= (p.Val579=)
c.2143G= (p.Val715=)
n.3179G=
c.2140G= (p.Val714=)
c.2185G= (p.Val729=)
n.2520G=
c.2182G= (p.Val728=)
c.2107G= (p.Val703=)
c.2104G= (p.Val702=)
c.2092G= (p.Val698=)
11g.22272939G>TCA379923954ANO5n.202G>T
c.1735G>T (p.Val579Phe)
c.2143G>T (p.Val715Phe)
n.3179G>T
c.2140G>T (p.Val714Phe)
c.2185G>T (p.Val729Phe)
n.2520G>T
c.2182G>T (p.Val728Phe)
c.2107G>T (p.Val703Phe)
c.2104G>T (p.Val702Phe)
c.2092G>T (p.Val698Phe)
11g.22272940T>ACA379923958ANO5n.203T>A
c.1736T>A (p.Val579Asp)
c.2144T>A (p.Val715Asp)
n.3180T>A
c.2141T>A (p.Val714Asp)
c.2186T>A (p.Val729Asp)
n.2521T>A
c.2183T>A (p.Val728Asp)
c.2108T>A (p.Val703Asp)
c.2105T>A (p.Val702Asp)
c.2093T>A (p.Val698Asp)
11g.22272940T>CCA379923956ANO5n.203T>C
c.1736T>C (p.Val579Ala)
c.2144T>C (p.Val715Ala)
n.3180T>C
c.2141T>C (p.Val714Ala)
c.2186T>C (p.Val729Ala)
n.2521T>C
c.2183T>C (p.Val728Ala)
c.2108T>C (p.Val703Ala)
c.2105T>C (p.Val702Ala)
c.2093T>C (p.Val698Ala)
11g.22272940T>GCA379923957ANO5n.203T>G
c.1736T>G (p.Val579Gly)
c.2144T>G (p.Val715Gly)
n.3180T>G
c.2141T>G (p.Val714Gly)
c.2186T>G (p.Val729Gly)
n.2521T>G
c.2183T>G (p.Val728Gly)
c.2108T>G (p.Val703Gly)
c.2105T>G (p.Val702Gly)
c.2093T>G (p.Val698Gly)
11g.22272941T>ACA473407614ANO5n.204T>A
c.1737T>A (p.Val579=)
c.2145T>A (p.Val715=)
n.3181T>A
c.2142T>A (p.Val714=)
c.2187T>A (p.Val729=)
n.2522T>A
c.2184T>A (p.Val728=)
c.2109T>A (p.Val703=)
c.2106T>A (p.Val702=)
c.2094T>A (p.Val698=)
11g.22272941T>CCA473407615ANO5n.204T>C
c.1737T>C (p.Val579=)
c.2145T>C (p.Val715=)
n.3181T>C
c.2142T>C (p.Val714=)
c.2187T>C (p.Val729=)
n.2522T>C
c.2184T>C (p.Val728=)
c.2109T>C (p.Val703=)
c.2106T>C (p.Val702=)
c.2094T>C (p.Val698=)
11g.22272941T>GCA473407616ANO5n.204T>G
c.1737T>G (p.Val579=)
c.2145T>G (p.Val715=)
n.3181T>G
c.2142T>G (p.Val714=)
c.2187T>G (p.Val729=)
n.2522T>G
c.2184T>G (p.Val728=)
c.2109T>G (p.Val703=)
c.2106T>G (p.Val702=)
c.2094T>G (p.Val698=)
11g.22272942T>ACA379923959ANO5n.205T>A
c.1738T>A (p.Trp580Arg)
c.2146T>A (p.Trp716Arg)
n.3182T>A
c.2143T>A (p.Trp715Arg)
c.2188T>A (p.Trp730Arg)
n.2523T>A
c.2185T>A (p.Trp729Arg)
c.2110T>A (p.Trp704Arg)
c.2107T>A (p.Trp703Arg)
c.2095T>A (p.Trp699Arg)
11g.22272942T>CCA379923960ANO5n.205T>C
c.1738T>C (p.Trp580Arg)
c.2146T>C (p.Trp716Arg)
n.3182T>C
c.2143T>C (p.Trp715Arg)
c.2188T>C (p.Trp730Arg)
n.2523T>C
c.2185T>C (p.Trp729Arg)
c.2110T>C (p.Trp704Arg)
c.2107T>C (p.Trp703Arg)
c.2095T>C (p.Trp699Arg)
11g.22272942T>GCA379923961ANO5n.205T>G
c.1738T>G (p.Trp580Gly)
c.2146T>G (p.Trp716Gly)
n.3182T>G
c.2143T>G (p.Trp715Gly)
c.2188T>G (p.Trp730Gly)
n.2523T>G
c.2185T>G (p.Trp729Gly)
c.2110T>G (p.Trp704Gly)
c.2107T>G (p.Trp703Gly)
c.2095T>G (p.Trp699Gly)
11g.22272942_22272943delinsTGCA1957403092ANO5n.205_206delinsTG
c.1738_1739delinsTG (p.Trp580=)
c.2146_2147delinsTG (p.Trp716=)
n.3182_3183delinsTG
c.2143_2144delinsTG (p.Trp715=)
c.2188_2189delinsTG (p.Trp730=)
n.2523_2524delinsTG
c.2185_2186delinsTG (p.Trp729=)
c.2110_2111delinsTG (p.Trp704=)
c.2107_2108delinsTG (p.Trp703=)
c.2095_2096delinsTG (p.Trp699=)
11g.22272943G>ACA379923962ANO5n.206G>A
c.1739G>A (p.Trp580Ter)
c.2147G>A (p.Trp716Ter)
n.3183G>A
c.2144G>A (p.Trp715Ter)
c.2189G>A (p.Trp730Ter)
n.2524G>A
c.2186G>A (p.Trp729Ter)
c.2111G>A (p.Trp704Ter)
c.2108G>A (p.Trp703Ter)
c.2096G>A (p.Trp699Ter)
11g.22272943G>CCA379923963ANO5n.206G>C
c.1739G>C (p.Trp580Ser)
c.2147G>C (p.Trp716Ser)
n.3183G>C
c.2144G>C (p.Trp715Ser)
c.2189G>C (p.Trp730Ser)
n.2524G>C
c.2186G>C (p.Trp729Ser)
c.2111G>C (p.Trp704Ser)
c.2108G>C (p.Trp703Ser)
c.2096G>C (p.Trp699Ser)
11g.22272943G>TCA379923964ANO5n.206G>T
c.1739G>T (p.Trp580Leu)
c.2147G>T (p.Trp716Leu)
n.3183G>T
c.2144G>T (p.Trp715Leu)
c.2189G>T (p.Trp730Leu)
n.2524G>T
c.2186G>T (p.Trp729Leu)
c.2111G>T (p.Trp704Leu)
c.2108G>T (p.Trp703Leu)
c.2096G>T (p.Trp699Leu)
11g.22272944delCA1957403093ANO5n.207del
c.1740del (p.Trp580CysfsTer30)
c.2148del (p.Trp716CysfsTer30)
n.3184del
c.2145del (p.Trp715CysfsTer30)
c.2190del (p.Trp730CysfsTer30)
n.2525del
c.2187del (p.Trp729CysfsTer30)
c.2112del (p.Trp704CysfsTer30)
c.2109del (p.Trp703CysfsTer30)
c.2097del (p.Trp699CysfsTer30)
 dbSNP gnomAD v4
11g.22272944G>ACA379923965ANO5n.207G>A
c.1740G>A (p.Trp580Ter)
c.2148G>A (p.Trp716Ter)
n.3184G>A
c.2145G>A (p.Trp715Ter)
c.2190G>A (p.Trp730Ter)
n.2525G>A
c.2187G>A (p.Trp729Ter)
c.2112G>A (p.Trp704Ter)
c.2109G>A (p.Trp703Ter)
c.2097G>A (p.Trp699Ter)
11g.22272944G>CCA379923966ANO5n.207G>C
c.1740G>C (p.Trp580Cys)
c.2148G>C (p.Trp716Cys)
n.3184G>C
c.2145G>C (p.Trp715Cys)
c.2190G>C (p.Trp730Cys)
n.2525G>C
c.2187G>C (p.Trp729Cys)
c.2112G>C (p.Trp704Cys)
c.2109G>C (p.Trp703Cys)
c.2097G>C (p.Trp699Cys)
11g.22272944G>TCA379923967ANO5n.207G>T
c.1740G>T (p.Trp580Cys)
c.2148G>T (p.Trp716Cys)
n.3184G>T
c.2145G>T (p.Trp715Cys)
c.2190G>T (p.Trp730Cys)
n.2525G>T
c.2187G>T (p.Trp729Cys)
c.2112G>T (p.Trp704Cys)
c.2109G>T (p.Trp703Cys)
c.2097G>T (p.Trp699Cys)
11g.22272944_22272949delinsGCAAGACA1957403096ANO5n.207_212delinsGCAAGA
c.1740_1745delinsGCAAGA (p.Trp580=)
c.2148_2153delinsGCAAGA (p.Trp716=)
n.3184_3189delinsGCAAGA
c.2145_2150delinsGCAAGA (p.Trp715=)
c.2190_2195delinsGCAAGA (p.Trp730=)
n.2525_2530delinsGCAAGA
c.2187_2192delinsGCAAGA (p.Trp729=)
c.2112_2117delinsGCAAGA (p.Trp704=)
c.2109_2114delinsGCAAGA (p.Trp703=)
c.2097_2102delinsGCAAGA (p.Trp699=)
11g.22272945C>ACA379923970ANO5n.208C>A
c.1741C>A (p.Gln581Lys)
c.2149C>A (p.Gln717Lys)
n.3185C>A
c.2146C>A (p.Gln716Lys)
c.2191C>A (p.Gln731Lys)
n.2526C>A
c.2188C>A (p.Gln730Lys)
c.2113C>A (p.Gln705Lys)
c.2110C>A (p.Gln704Lys)
c.2098C>A (p.Gln700Lys)
11g.22272945C>GCA379923969ANO5n.208C>G
c.1741C>G (p.Gln581Glu)
c.2149C>G (p.Gln717Glu)
n.3185C>G
c.2146C>G (p.Gln716Glu)
c.2191C>G (p.Gln731Glu)
n.2526C>G
c.2188C>G (p.Gln730Glu)
c.2113C>G (p.Gln705Glu)
c.2110C>G (p.Gln704Glu)
c.2098C>G (p.Gln700Glu)
11g.22272945C>TCA379923968ANO5n.208C>T
c.1741C>T (p.Gln581Ter)
c.2149C>T (p.Gln717Ter)
n.3185C>T
c.2146C>T (p.Gln716Ter)
c.2191C>T (p.Gln731Ter)
n.2526C>T
c.2188C>T (p.Gln730Ter)
c.2113C>T (p.Gln705Ter)
c.2110C>T (p.Gln704Ter)
c.2098C>T (p.Gln700Ter)
11g.22272947_22272951delCA5923472ANO5n.210_214del
c.1743_1747del (p.Gln581HisfsTer13)
c.2151_2155del (p.Gln717HisfsTer13)
n.3187_3191del
c.2148_2152del (p.Gln716HisfsTer13)
c.2193_2197del (p.Gln731HisfsTer13)
n.2528_2532del
c.2190_2194del (p.Gln730HisfsTer13)
c.2115_2119del (p.Gln705HisfsTer13)
c.2112_2116del (p.Gln704HisfsTer13)
c.2100_2104del (p.Gln700HisfsTer13)
 ClinVar dbSNP ExAC gnomAD v2
11g.22272946A>CCA379923971ANO5n.209A>C
c.1742A>C (p.Gln581Pro)
c.2150A>C (p.Gln717Pro)
n.3186A>C
c.2147A>C (p.Gln716Pro)
c.2192A>C (p.Gln731Pro)
n.2527A>C
c.2189A>C (p.Gln730Pro)
c.2114A>C (p.Gln705Pro)
c.2111A>C (p.Gln704Pro)
c.2099A>C (p.Gln700Pro)
11g.22272946A>GCA379923972ANO5n.209A>G
c.1742A>G (p.Gln581Arg)
c.2150A>G (p.Gln717Arg)
n.3186A>G
c.2147A>G (p.Gln716Arg)
c.2192A>G (p.Gln731Arg)
n.2527A>G
c.2189A>G (p.Gln730Arg)
c.2114A>G (p.Gln705Arg)
c.2111A>G (p.Gln704Arg)
c.2099A>G (p.Gln700Arg)
11g.22272946A>TCA379923973ANO5n.209A>T
c.1742A>T (p.Gln581Leu)
c.2150A>T (p.Gln717Leu)
n.3186A>T
c.2147A>T (p.Gln716Leu)
c.2192A>T (p.Gln731Leu)
n.2527A>T
c.2189A>T (p.Gln730Leu)
c.2114A>T (p.Gln705Leu)
c.2111A>T (p.Gln704Leu)
c.2099A>T (p.Gln700Leu)
 COSMIC
11g.22272947A=CA1957403100ANO5n.210A=
c.1743A= (p.Gln581=)
c.2151A= (p.Gln717=)
n.3187A=
c.2148A= (p.Gln716=)
c.2193A= (p.Gln731=)
n.2528A=
c.2190A= (p.Gln730=)
c.2115A= (p.Gln705=)
c.2112A= (p.Gln704=)
c.2100A= (p.Gln700=)
11g.22272947A>CCA10605995ANO5n.210A>C
c.1743A>C (p.Gln581His)
c.2151A>C (p.Gln717His)
n.3187A>C
c.2148A>C (p.Gln716His)
c.2193A>C (p.Gln731His)
n.2528A>C
c.2190A>C (p.Gln730His)
c.2115A>C (p.Gln705His)
c.2112A>C (p.Gln704His)
c.2100A>C (p.Gln700His)
 ClinVar dbSNP
11g.22272947A>GCA5923473ANO5n.210A>G
c.1743A>G (p.Gln581=)
c.2151A>G (p.Gln717=)
n.3187A>G
c.2148A>G (p.Gln716=)
c.2193A>G (p.Gln731=)
n.2528A>G
c.2190A>G (p.Gln730=)
c.2115A>G (p.Gln705=)
c.2112A>G (p.Gln704=)
c.2100A>G (p.Gln700=)
 dbSNP ExAC
11g.22272947A>TCA379923974ANO5n.210A>T
c.1743A>T (p.Gln581His)
c.2151A>T (p.Gln717His)
n.3187A>T
c.2148A>T (p.Gln716His)
c.2193A>T (p.Gln731His)
n.2528A>T
c.2190A>T (p.Gln730His)
c.2115A>T (p.Gln705His)
c.2112A>T (p.Gln704His)
c.2100A>T (p.Gln700His)
11g.22272948delCA2612837287ANO5n.211del
c.1744del (p.Asp582ThrfsTer28)
c.2152del (p.Asp718ThrfsTer28)
n.3188del
c.2149del (p.Asp717ThrfsTer28)
c.2194del (p.Asp732ThrfsTer28)
n.2529del
c.2191del (p.Asp731ThrfsTer28)
c.2116del (p.Asp706ThrfsTer28)
c.2113del (p.Asp705ThrfsTer28)
c.2101del (p.Asp701ThrfsTer28)
 gnomAD v4
11g.22272948G>ACA379923975ANO5n.211G>A
c.1744G>A (p.Asp582Asn)
c.2152G>A (p.Asp718Asn)
n.3188G>A
c.2149G>A (p.Asp717Asn)
c.2194G>A (p.Asp732Asn)
n.2529G>A
c.2191G>A (p.Asp731Asn)
c.2116G>A (p.Asp706Asn)
c.2113G>A (p.Asp705Asn)
c.2101G>A (p.Asp701Asn)
11g.22272948G>CCA379923976ANO5n.211G>C
c.1744G>C (p.Asp582His)
c.2152G>C (p.Asp718His)
n.3188G>C
c.2149G>C (p.Asp717His)
c.2194G>C (p.Asp732His)
n.2529G>C
c.2191G>C (p.Asp731His)
c.2116G>C (p.Asp706His)
c.2113G>C (p.Asp705His)
c.2101G>C (p.Asp701His)
11g.22272948G>TCA379923977ANO5n.211G>T
c.1744G>T (p.Asp582Tyr)
c.2152G>T (p.Asp718Tyr)
n.3188G>T
c.2149G>T (p.Asp717Tyr)
c.2194G>T (p.Asp732Tyr)
n.2529G>T
c.2191G>T (p.Asp731Tyr)
c.2116G>T (p.Asp706Tyr)
c.2113G>T (p.Asp705Tyr)
c.2101G>T (p.Asp701Tyr)
11g.22272949A>CCA379923978ANO5n.212A>C
c.1745A>C (p.Asp582Ala)
c.2153A>C (p.Asp718Ala)
n.3189A>C
c.2150A>C (p.Asp717Ala)
c.2195A>C (p.Asp732Ala)
n.2530A>C
c.2192A>C (p.Asp731Ala)
c.2117A>C (p.Asp706Ala)
c.2114A>C (p.Asp705Ala)
c.2102A>C (p.Asp701Ala)
 gnomAD v4
11g.22272949A>GCA379923979ANO5n.212A>G
c.1745A>G (p.Asp582Gly)
c.2153A>G (p.Asp718Gly)
n.3189A>G
c.2150A>G (p.Asp717Gly)
c.2195A>G (p.Asp732Gly)
n.2530A>G
c.2192A>G (p.Asp731Gly)
c.2117A>G (p.Asp706Gly)
c.2114A>G (p.Asp705Gly)
c.2102A>G (p.Asp701Gly)
11g.22272949A>TCA379923980ANO5n.212A>T
c.1745A>T (p.Asp582Val)
c.2153A>T (p.Asp718Val)
n.3189A>T
c.2150A>T (p.Asp717Val)
c.2195A>T (p.Asp732Val)
n.2530A>T
c.2192A>T (p.Asp731Val)
c.2117A>T (p.Asp706Val)
c.2114A>T (p.Asp705Val)
c.2102A>T (p.Asp701Val)
11g.22272950C>ACA379923982ANO5n.213C>A
c.1746C>A (p.Asp582Glu)
c.2154C>A (p.Asp718Glu)
n.3190C>A
c.2151C>A (p.Asp717Glu)
c.2196C>A (p.Asp732Glu)
n.2531C>A
c.2193C>A (p.Asp731Glu)
c.2118C>A (p.Asp706Glu)
c.2115C>A (p.Asp705Glu)
c.2103C>A (p.Asp701Glu)
11g.22272950C>GCA379923981ANO5n.213C>G
c.1746C>G (p.Asp582Glu)
c.2154C>G (p.Asp718Glu)
n.3190C>G
c.2151C>G (p.Asp717Glu)
c.2196C>G (p.Asp732Glu)
n.2531C>G
c.2193C>G (p.Asp731Glu)
c.2118C>G (p.Asp706Glu)
c.2115C>G (p.Asp705Glu)
c.2103C>G (p.Asp701Glu)
11g.22272950C>TCA473407630ANO5n.213C>T
c.1746C>T (p.Asp582=)
c.2154C>T (p.Asp718=)
n.3190C>T
c.2151C>T (p.Asp717=)
c.2196C>T (p.Asp732=)
n.2531C>T
c.2193C>T (p.Asp731=)
c.2118C>T (p.Asp706=)
c.2115C>T (p.Asp705=)
c.2103C>T (p.Asp701=)
 gnomAD v4
11g.22272951A>CCA379923983ANO5n.214A>C
c.1747A>C (p.Ile583Leu)
c.2155A>C (p.Ile719Leu)
n.3191A>C
c.2152A>C (p.Ile718Leu)
c.2197A>C (p.Ile733Leu)
n.2532A>C
c.2194A>C (p.Ile732Leu)
c.2119A>C (p.Ile707Leu)
c.2116A>C (p.Ile706Leu)
c.2104A>C (p.Ile702Leu)
11g.22272951A>GCA379923984ANO5n.214A>G
c.1747A>G (p.Ile583Val)
c.2155A>G (p.Ile719Val)
n.3191A>G
c.2152A>G (p.Ile718Val)
c.2197A>G (p.Ile733Val)
n.2532A>G
c.2194A>G (p.Ile732Val)
c.2119A>G (p.Ile707Val)
c.2116A>G (p.Ile706Val)
c.2104A>G (p.Ile702Val)
11g.22272951A>TCA379923985ANO5n.214A>T
c.1747A>T (p.Ile583Phe)
c.2155A>T (p.Ile719Phe)
n.3191A>T
c.2152A>T (p.Ile718Phe)
c.2197A>T (p.Ile733Phe)
n.2532A>T
c.2194A>T (p.Ile732Phe)
c.2119A>T (p.Ile707Phe)
c.2116A>T (p.Ile706Phe)
c.2104A>T (p.Ile702Phe)
11g.22272952T>ACA379923986ANO5n.215T>A
c.1748T>A (p.Ile583Asn)
c.2156T>A (p.Ile719Asn)
n.3192T>A
c.2153T>A (p.Ile718Asn)
c.2198T>A (p.Ile733Asn)
n.2533T>A
c.2195T>A (p.Ile732Asn)
c.2120T>A (p.Ile707Asn)
c.2117T>A (p.Ile706Asn)
c.2105T>A (p.Ile702Asn)
11g.22272952T>CCA379923987ANO5n.215T>C
c.1748T>C (p.Ile583Thr)
c.2156T>C (p.Ile719Thr)
n.3192T>C
c.2153T>C (p.Ile718Thr)
c.2198T>C (p.Ile733Thr)
n.2533T>C
c.2195T>C (p.Ile732Thr)
c.2120T>C (p.Ile707Thr)
c.2117T>C (p.Ile706Thr)
c.2105T>C (p.Ile702Thr)
11g.22272952T>GCA379923988ANO5n.215T>G
c.1748T>G (p.Ile583Ser)
c.2156T>G (p.Ile719Ser)
n.3192T>G
c.2153T>G (p.Ile718Ser)
c.2198T>G (p.Ile733Ser)
n.2533T>G
c.2195T>G (p.Ile732Ser)
c.2120T>G (p.Ile707Ser)
c.2117T>G (p.Ile706Ser)
c.2105T>G (p.Ile702Ser)
11g.22272954_22272957delCA2612837288ANO5n.217_220del
c.1750_1753del (p.Leu584MetfsTer25)
c.2158_2161del (p.Leu720MetfsTer25)
n.3194_3197del
c.2155_2158del (p.Leu719MetfsTer25)
c.2200_2203del (p.Leu734MetfsTer25)
n.2535_2538del
c.2197_2200del (p.Leu733MetfsTer25)
c.2122_2125del (p.Leu708MetfsTer25)
c.2119_2122del (p.Leu707MetfsTer25)
c.2107_2110del (p.Leu703MetfsTer25)
 gnomAD v4
11g.22272953T>ACA473407634ANO5n.216T>A
c.1749T>A (p.Ile583=)
c.2157T>A (p.Ile719=)
n.3193T>A
c.2154T>A (p.Ile718=)
c.2199T>A (p.Ile733=)
n.2534T>A
c.2196T>A (p.Ile732=)
c.2121T>A (p.Ile707=)
c.2118T>A (p.Ile706=)
c.2106T>A (p.Ile702=)
11g.22272953T>CCA473407633ANO5n.216T>C
c.1749T>C (p.Ile583=)
c.2157T>C (p.Ile719=)
n.3193T>C
c.2154T>C (p.Ile718=)
c.2199T>C (p.Ile733=)
n.2534T>C
c.2196T>C (p.Ile732=)
c.2121T>C (p.Ile707=)
c.2118T>C (p.Ile706=)
c.2106T>C (p.Ile702=)
11g.22272953T>GCA379923989ANO5n.216T>G
c.1749T>G (p.Ile583Met)
c.2157T>G (p.Ile719Met)
n.3193T>G
c.2154T>G (p.Ile718Met)
c.2199T>G (p.Ile733Met)
n.2534T>G
c.2196T>G (p.Ile732Met)
c.2121T>G (p.Ile707Met)
c.2118T>G (p.Ile706Met)
c.2106T>G (p.Ile702Met)
11g.22272954C>ACA10604651ANO5n.217C>A
c.1750C>A (p.Leu584Ile)
c.2158C>A (p.Leu720Ile)
n.3194C>A
c.2155C>A (p.Leu719Ile)
c.2200C>A (p.Leu734Ile)
n.2535C>A
c.2197C>A (p.Leu733Ile)
c.2122C>A (p.Leu708Ile)
c.2119C>A (p.Leu707Ile)
c.2107C>A (p.Leu703Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.22272954C=CA1957403107ANO5n.217C=
c.1750C= (p.Leu584=)
c.2158C= (p.Leu720=)
n.3194C=
c.2155C= (p.Leu719=)
c.2200C= (p.Leu734=)
n.2535C=
c.2197C= (p.Leu733=)
c.2122C= (p.Leu708=)
c.2119C= (p.Leu707=)
c.2107C= (p.Leu703=)
11g.22272954C>GCA379923990ANO5n.217C>G
c.1750C>G (p.Leu584Val)
c.2158C>G (p.Leu720Val)
n.3194C>G
c.2155C>G (p.Leu719Val)
c.2200C>G (p.Leu734Val)
n.2535C>G
c.2197C>G (p.Leu733Val)
c.2122C>G (p.Leu708Val)
c.2119C>G (p.Leu707Val)
c.2107C>G (p.Leu703Val)
 gnomAD v4
11g.22272954C>TCA379923991ANO5n.217C>T
c.1750C>T (p.Leu584Phe)
c.2158C>T (p.Leu720Phe)
n.3194C>T
c.2155C>T (p.Leu719Phe)
c.2200C>T (p.Leu734Phe)
n.2535C>T
c.2197C>T (p.Leu733Phe)
c.2122C>T (p.Leu708Phe)
c.2119C>T (p.Leu707Phe)
c.2107C>T (p.Leu703Phe)
11g.22272955T>ACA379923992ANO5n.218T>A
c.1751T>A (p.Leu584His)
c.2159T>A (p.Leu720His)
n.3195T>A
c.2156T>A (p.Leu719His)
c.2201T>A (p.Leu734His)
n.2536T>A
c.2198T>A (p.Leu733His)
c.2123T>A (p.Leu708His)
c.2120T>A (p.Leu707His)
c.2108T>A (p.Leu703His)
11g.22272955T>CCA379923993ANO5n.218T>C
c.1751T>C (p.Leu584Pro)
c.2159T>C (p.Leu720Pro)
n.3195T>C
c.2156T>C (p.Leu719Pro)
c.2201T>C (p.Leu734Pro)
n.2536T>C
c.2198T>C (p.Leu733Pro)
c.2123T>C (p.Leu708Pro)
c.2120T>C (p.Leu707Pro)
c.2108T>C (p.Leu703Pro)
 ClinVar dbSNP gnomAD v4
11g.22272955T>GCA379923994ANO5n.218T>G
c.1751T>G (p.Leu584Arg)
c.2159T>G (p.Leu720Arg)
n.3195T>G
c.2156T>G (p.Leu719Arg)
c.2201T>G (p.Leu734Arg)
n.2536T>G
c.2198T>G (p.Leu733Arg)
c.2123T>G (p.Leu708Arg)
c.2120T>G (p.Leu707Arg)
c.2108T>G (p.Leu703Arg)
 COSMIC
11g.22272956T>ACA473407637ANO5n.219T>A
c.1752T>A (p.Leu584=)
c.2160T>A (p.Leu720=)
n.3196T>A
c.2157T>A (p.Leu719=)
c.2202T>A (p.Leu734=)
n.2537T>A
c.2199T>A (p.Leu733=)
c.2124T>A (p.Leu708=)
c.2121T>A (p.Leu707=)
c.2109T>A (p.Leu703=)
11g.22272956T>CCA473407639ANO5n.219T>C
c.1752T>C (p.Leu584=)
c.2160T>C (p.Leu720=)
n.3196T>C
c.2157T>C (p.Leu719=)
c.2202T>C (p.Leu734=)
n.2537T>C
c.2199T>C (p.Leu733=)
c.2124T>C (p.Leu708=)
c.2121T>C (p.Leu707=)
c.2109T>C (p.Leu703=)
11g.22272956T>GCA473407638ANO5n.219T>G
c.1752T>G (p.Leu584=)
c.2160T>G (p.Leu720=)
n.3196T>G
c.2157T>G (p.Leu719=)
c.2202T>G (p.Leu734=)
n.2537T>G
c.2199T>G (p.Leu733=)
c.2124T>G (p.Leu708=)
c.2121T>G (p.Leu707=)
c.2109T>G (p.Leu703=)
11g.22272957T>ACA379923996ANO5n.220T>A
c.1753T>A (p.Tyr585Asn)
c.2161T>A (p.Tyr721Asn)
n.3197T>A
c.2158T>A (p.Tyr720Asn)
c.2203T>A (p.Tyr735Asn)
n.2538T>A
c.2200T>A (p.Tyr734Asn)
c.2125T>A (p.Tyr709Asn)
c.2122T>A (p.Tyr708Asn)
c.2110T>A (p.Tyr704Asn)
11g.22272957T>CCA379923997ANO5n.220T>C
c.1753T>C (p.Tyr585His)
c.2161T>C (p.Tyr721His)
n.3197T>C
c.2158T>C (p.Tyr720His)
c.2203T>C (p.Tyr735His)
n.2538T>C
c.2200T>C (p.Tyr734His)
c.2125T>C (p.Tyr709His)
c.2122T>C (p.Tyr708His)
c.2110T>C (p.Tyr704His)
 dbSNP gnomAD v4
11g.22272957T>GCA379923995ANO5n.220T>G
c.1753T>G (p.Tyr585Asp)
c.2161T>G (p.Tyr721Asp)
n.3197T>G
c.2158T>G (p.Tyr720Asp)
c.2203T>G (p.Tyr735Asp)
n.2538T>G
c.2200T>G (p.Tyr734Asp)
c.2125T>G (p.Tyr709Asp)
c.2122T>G (p.Tyr708Asp)
c.2110T>G (p.Tyr704Asp)
 ClinVar dbSNP
11g.22272957T=CA1957403113ANO5n.220T=
c.1753T= (p.Tyr585=)
c.2161T= (p.Tyr721=)
n.3197T=
c.2158T= (p.Tyr720=)
c.2203T= (p.Tyr735=)
n.2538T=
c.2200T= (p.Tyr734=)
c.2125T= (p.Tyr709=)
c.2122T= (p.Tyr708=)
c.2110T= (p.Tyr704=)
11g.22272958A>CCA379923998ANO5n.221A>C
c.1754A>C (p.Tyr585Ser)
c.2162A>C (p.Tyr721Ser)
n.3198A>C
c.2159A>C (p.Tyr720Ser)
c.2204A>C (p.Tyr735Ser)
n.2539A>C
c.2201A>C (p.Tyr734Ser)
c.2126A>C (p.Tyr709Ser)
c.2123A>C (p.Tyr708Ser)
c.2111A>C (p.Tyr704Ser)
11g.22272958A>GCA379923999ANO5n.221A>G
c.1754A>G (p.Tyr585Cys)
c.2162A>G (p.Tyr721Cys)
n.3198A>G
c.2159A>G (p.Tyr720Cys)
c.2204A>G (p.Tyr735Cys)
n.2539A>G
c.2201A>G (p.Tyr734Cys)
c.2126A>G (p.Tyr709Cys)
c.2123A>G (p.Tyr708Cys)
c.2111A>G (p.Tyr704Cys)
11g.22272958A>TCA379924000ANO5n.221A>T
c.1754A>T (p.Tyr585Phe)
c.2162A>T (p.Tyr721Phe)
n.3198A>T
c.2159A>T (p.Tyr720Phe)
c.2204A>T (p.Tyr735Phe)
n.2539A>T
c.2201A>T (p.Tyr734Phe)
c.2126A>T (p.Tyr709Phe)
c.2123A>T (p.Tyr708Phe)
c.2111A>T (p.Tyr704Phe)
11g.22272959T>ACA379924001ANO5n.222T>A
c.1755T>A (p.Tyr585Ter)
c.2163T>A (p.Tyr721Ter)
n.3199T>A
c.2160T>A (p.Tyr720Ter)
c.2205T>A (p.Tyr735Ter)
n.2540T>A
c.2202T>A (p.Tyr734Ter)
c.2127T>A (p.Tyr709Ter)
c.2124T>A (p.Tyr708Ter)
c.2112T>A (p.Tyr704Ter)
11g.22272959T>CCA473407641ANO5n.222T>C
c.1755T>C (p.Tyr585=)
c.2163T>C (p.Tyr721=)
n.3199T>C
c.2160T>C (p.Tyr720=)
c.2205T>C (p.Tyr735=)
n.2540T>C
c.2202T>C (p.Tyr734=)
c.2127T>C (p.Tyr709=)
c.2124T>C (p.Tyr708=)
c.2112T>C (p.Tyr704=)
 dbSNP
11g.22272959T>GCA5923474ANO5n.222T>G
c.1755T>G (p.Tyr585Ter)
c.2163T>G (p.Tyr721Ter)
n.3199T>G
c.2160T>G (p.Tyr720Ter)
c.2205T>G (p.Tyr735Ter)
n.2540T>G
c.2202T>G (p.Tyr734Ter)
c.2127T>G (p.Tyr709Ter)
c.2124T>G (p.Tyr708Ter)
c.2112T>G (p.Tyr704Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272959T=CA1957403126ANO5n.222T=
c.1755T= (p.Tyr585=)
c.2163T= (p.Tyr721=)
n.3199T=
c.2160T= (p.Tyr720=)
c.2205T= (p.Tyr735=)
n.2540T=
c.2202T= (p.Tyr734=)
c.2127T= (p.Tyr709=)
c.2124T= (p.Tyr708=)
c.2112T= (p.Tyr704=)
11g.22272959_22272960insTGTGAACA2556628661ANO5n.222_223insTGTGAA
c.1755_1756insTGTGAA (p.Tyr585_Gly586insCysGlu)
c.2163_2164insTGTGAA (p.Tyr721_Gly722insCysGlu)
n.3199_3200insTGTGAA
c.2160_2161insTGTGAA (p.Tyr720_Gly721insCysGlu)
c.2205_2206insTGTGAA (p.Tyr735_Gly736insCysGlu)
n.2540_2541insTGTGAA
c.2202_2203insTGTGAA (p.Tyr734_Gly735insCysGlu)
c.2127_2128insTGTGAA (p.Tyr709_Gly710insCysGlu)
c.2124_2125insTGTGAA (p.Tyr708_Gly709insCysGlu)
c.2112_2113insTGTGAA (p.Tyr704_Gly705insCysGlu)
11g.22272960G>ACA379924004ANO5n.223G>A
c.1756G>A (p.Gly586Arg)
c.2164G>A (p.Gly722Arg)
n.3200G>A
c.2161G>A (p.Gly721Arg)
c.2206G>A (p.Gly736Arg)
n.2541G>A
c.2203G>A (p.Gly735Arg)
c.2128G>A (p.Gly710Arg)
c.2125G>A (p.Gly709Arg)
c.2113G>A (p.Gly705Arg)
11g.22272960G>CCA379924002ANO5n.223G>C
c.1756G>C (p.Gly586Arg)
c.2164G>C (p.Gly722Arg)
n.3200G>C
c.2161G>C (p.Gly721Arg)
c.2206G>C (p.Gly736Arg)
n.2541G>C
c.2203G>C (p.Gly735Arg)
c.2128G>C (p.Gly710Arg)
c.2125G>C (p.Gly709Arg)
c.2113G>C (p.Gly705Arg)
11g.22272960G>TCA379924003ANO5n.223G>T
c.1756G>T (p.Gly586Ter)
c.2164G>T (p.Gly722Ter)
n.3200G>T
c.2161G>T (p.Gly721Ter)
c.2206G>T (p.Gly736Ter)
n.2541G>T
c.2203G>T (p.Gly735Ter)
c.2128G>T (p.Gly710Ter)
c.2125G>T (p.Gly709Ter)
c.2113G>T (p.Gly705Ter)
11g.22272961G>ACA379924005ANO5n.224G>A
c.1757G>A (p.Gly586Glu)
c.2165G>A (p.Gly722Glu)
n.3201G>A
c.2162G>A (p.Gly721Glu)
c.2207G>A (p.Gly736Glu)
n.2542G>A
c.2204G>A (p.Gly735Glu)
c.2129G>A (p.Gly710Glu)
c.2126G>A (p.Gly709Glu)
c.2114G>A (p.Gly705Glu)
 ClinVar
11g.22272961G>CCA379924006ANO5n.224G>C
c.1757G>C (p.Gly586Ala)
c.2165G>C (p.Gly722Ala)
n.3201G>C
c.2162G>C (p.Gly721Ala)
c.2207G>C (p.Gly736Ala)
n.2542G>C
c.2204G>C (p.Gly735Ala)
c.2129G>C (p.Gly710Ala)
c.2126G>C (p.Gly709Ala)
c.2114G>C (p.Gly705Ala)
11g.22272961G>TCA379924007ANO5n.224G>T
c.1757G>T (p.Gly586Val)
c.2165G>T (p.Gly722Val)
n.3201G>T
c.2162G>T (p.Gly721Val)
c.2207G>T (p.Gly736Val)
n.2542G>T
c.2204G>T (p.Gly735Val)
c.2129G>T (p.Gly710Val)
c.2126G>T (p.Gly709Val)
c.2114G>T (p.Gly705Val)
11g.22272962A>CCA473407644ANO5n.225A>C
c.1758A>C (p.Gly586=)
c.2166A>C (p.Gly722=)
n.3202A>C
c.2163A>C (p.Gly721=)
c.2208A>C (p.Gly736=)
n.2543A>C
c.2205A>C (p.Gly735=)
c.2130A>C (p.Gly710=)
c.2127A>C (p.Gly709=)
c.2115A>C (p.Gly705=)
11g.22272962A>GCA473407646ANO5n.225A>G
c.1758A>G (p.Gly586=)
c.2166A>G (p.Gly722=)
n.3202A>G
c.2163A>G (p.Gly721=)
c.2208A>G (p.Gly736=)
n.2543A>G
c.2205A>G (p.Gly735=)
c.2130A>G (p.Gly710=)
c.2127A>G (p.Gly709=)
c.2115A>G (p.Gly705=)
11g.22272962A>TCA473407647ANO5n.225A>T
c.1758A>T (p.Gly586=)
c.2166A>T (p.Gly722=)
n.3202A>T
c.2163A>T (p.Gly721=)
c.2208A>T (p.Gly736=)
n.2543A>T
c.2205A>T (p.Gly735=)
c.2130A>T (p.Gly710=)
c.2127A>T (p.Gly709=)
c.2115A>T (p.Gly705=)
 gnomAD v4 COSMIC
11g.22272962_22272963insGAACA2500814548ANO5n.225_226insGAA
c.1758_1759insGAA (p.Gly586_Met587insGlu)
c.2166_2167insGAA (p.Gly722_Met723insGlu)
n.3202_3203insGAA
c.2163_2164insGAA (p.Gly721_Met722insGlu)
c.2208_2209insGAA (p.Gly736_Met737insGlu)
n.2543_2544insGAA
c.2205_2206insGAA (p.Gly735_Met736insGlu)
c.2130_2131insGAA (p.Gly710_Met711insGlu)
c.2127_2128insGAA (p.Gly709_Met710insGlu)
c.2115_2116insGAA (p.Gly705_Met706insGlu)
11g.22272963A=CA1957403131ANO5n.226A=
c.1759A= (p.Met587=)
c.2167A= (p.Met723=)
n.3203A=
c.2164A= (p.Met722=)
c.2209A= (p.Met737=)
n.2544A=
c.2206A= (p.Met736=)
c.2131A= (p.Met711=)
c.2128A= (p.Met710=)
c.2116A= (p.Met706=)
11g.22272963A>CCA379924008ANO5n.226A>C
c.1759A>C (p.Met587Leu)
c.2167A>C (p.Met723Leu)
n.3203A>C
c.2164A>C (p.Met722Leu)
c.2209A>C (p.Met737Leu)
n.2544A>C
c.2206A>C (p.Met736Leu)
c.2131A>C (p.Met711Leu)
c.2128A>C (p.Met710Leu)
c.2116A>C (p.Met706Leu)
11g.22272963A>GCA379924009ANO5n.226A>G
c.1759A>G (p.Met587Val)
c.2167A>G (p.Met723Val)
n.3203A>G
c.2164A>G (p.Met722Val)
c.2209A>G (p.Met737Val)
n.2544A>G
c.2206A>G (p.Met736Val)
c.2131A>G (p.Met711Val)
c.2128A>G (p.Met710Val)
c.2116A>G (p.Met706Val)
11g.22272963A>TCA379924010ANO5n.226A>T
c.1759A>T (p.Met587Leu)
c.2167A>T (p.Met723Leu)
n.3203A>T
c.2164A>T (p.Met722Leu)
c.2209A>T (p.Met737Leu)
n.2544A>T
c.2206A>T (p.Met736Leu)
c.2131A>T (p.Met711Leu)
c.2128A>T (p.Met710Leu)
c.2116A>T (p.Met706Leu)
 ClinVar dbSNP
11g.22272964T>ACA379924012ANO5n.227T>A
c.1760T>A (p.Met587Lys)
c.2168T>A (p.Met723Lys)
n.3204T>A
c.2165T>A (p.Met722Lys)
c.2210T>A (p.Met737Lys)
n.2545T>A
c.2207T>A (p.Met736Lys)
c.2132T>A (p.Met711Lys)
c.2129T>A (p.Met710Lys)
c.2117T>A (p.Met706Lys)
11g.22272964T>CCA379924013ANO5n.227T>C
c.1760T>C (p.Met587Thr)
c.2168T>C (p.Met723Thr)
n.3204T>C
c.2165T>C (p.Met722Thr)
c.2210T>C (p.Met737Thr)
n.2545T>C
c.2207T>C (p.Met736Thr)
c.2132T>C (p.Met711Thr)
c.2129T>C (p.Met710Thr)
c.2117T>C (p.Met706Thr)
11g.22272964T>GCA379924011ANO5n.227T>G
c.1760T>G (p.Met587Arg)
c.2168T>G (p.Met723Arg)
n.3204T>G
c.2165T>G (p.Met722Arg)
c.2210T>G (p.Met737Arg)
n.2545T>G
c.2207T>G (p.Met736Arg)
c.2132T>G (p.Met711Arg)
c.2129T>G (p.Met710Arg)
c.2117T>G (p.Met706Arg)
11g.22272965G>ACA379924015ANO5n.228G>A
c.1761G>A (p.Met587Ile)
c.2169G>A (p.Met723Ile)
n.3205G>A
c.2166G>A (p.Met722Ile)
c.2211G>A (p.Met737Ile)
n.2546G>A
c.2208G>A (p.Met736Ile)
c.2133G>A (p.Met711Ile)
c.2130G>A (p.Met710Ile)
c.2118G>A (p.Met706Ile)
11g.22272965G>CCA379924014ANO5n.228G>C
c.1761G>C (p.Met587Ile)
c.2169G>C (p.Met723Ile)
n.3205G>C
c.2166G>C (p.Met722Ile)
c.2211G>C (p.Met737Ile)
n.2546G>C
c.2208G>C (p.Met736Ile)
c.2133G>C (p.Met711Ile)
c.2130G>C (p.Met710Ile)
c.2118G>C (p.Met706Ile)
11g.22272965G>TCA379924016ANO5n.228G>T
c.1761G>T (p.Met587Ile)
c.2169G>T (p.Met723Ile)
n.3205G>T
c.2166G>T (p.Met722Ile)
c.2211G>T (p.Met737Ile)
n.2546G>T
c.2208G>T (p.Met736Ile)
c.2133G>T (p.Met711Ile)
c.2130G>T (p.Met710Ile)
c.2118G>T (p.Met706Ile)
11g.22272966G>ACA379924017ANO5n.229G>A
c.1762G>A (p.Ala588Thr)
c.2170G>A (p.Ala724Thr)
n.3206G>A
c.2167G>A (p.Ala723Thr)
c.2212G>A (p.Ala738Thr)
n.2547G>A
c.2209G>A (p.Ala737Thr)
c.2134G>A (p.Ala712Thr)
c.2131G>A (p.Ala711Thr)
c.2119G>A (p.Ala707Thr)
 gnomAD v4
11g.22272966G>CCA379924018ANO5n.229G>C
c.1762G>C (p.Ala588Pro)
c.2170G>C (p.Ala724Pro)
n.3206G>C
c.2167G>C (p.Ala723Pro)
c.2212G>C (p.Ala738Pro)
n.2547G>C
c.2209G>C (p.Ala737Pro)
c.2134G>C (p.Ala712Pro)
c.2131G>C (p.Ala711Pro)
c.2119G>C (p.Ala707Pro)
11g.22272966G>TCA379924019ANO5n.229G>T
c.1762G>T (p.Ala588Ser)
c.2170G>T (p.Ala724Ser)
n.3206G>T
c.2167G>T (p.Ala723Ser)
c.2212G>T (p.Ala738Ser)
n.2547G>T
c.2209G>T (p.Ala737Ser)
c.2134G>T (p.Ala712Ser)
c.2131G>T (p.Ala711Ser)
c.2119G>T (p.Ala707Ser)
11g.22272967C>ACA379924020ANO5n.230C>A
c.1763C>A (p.Ala588Asp)
c.2171C>A (p.Ala724Asp)
n.3207C>A
c.2168C>A (p.Ala723Asp)
c.2213C>A (p.Ala738Asp)
n.2548C>A
c.2210C>A (p.Ala737Asp)
c.2135C>A (p.Ala712Asp)
c.2132C>A (p.Ala711Asp)
c.2120C>A (p.Ala707Asp)
11g.22272967C>GCA379924021ANO5n.230C>G
c.1763C>G (p.Ala588Gly)
c.2171C>G (p.Ala724Gly)
n.3207C>G
c.2168C>G (p.Ala723Gly)
c.2213C>G (p.Ala738Gly)
n.2548C>G
c.2210C>G (p.Ala737Gly)
c.2135C>G (p.Ala712Gly)
c.2132C>G (p.Ala711Gly)
c.2120C>G (p.Ala707Gly)
11g.22272967C>TCA379924022ANO5n.230C>T
c.1763C>T (p.Ala588Val)
c.2171C>T (p.Ala724Val)
n.3207C>T
c.2168C>T (p.Ala723Val)
c.2213C>T (p.Ala738Val)
n.2548C>T
c.2210C>T (p.Ala737Val)
c.2135C>T (p.Ala712Val)
c.2132C>T (p.Ala711Val)
c.2120C>T (p.Ala707Val)
11g.22272968T>ACA473407653ANO5n.231T>A
c.1764T>A (p.Ala588=)
c.2172T>A (p.Ala724=)
n.3208T>A
c.2169T>A (p.Ala723=)
c.2214T>A (p.Ala738=)
n.2549T>A
c.2211T>A (p.Ala737=)
c.2136T>A (p.Ala712=)
c.2133T>A (p.Ala711=)
c.2121T>A (p.Ala707=)
11g.22272968T>CCA473407654ANO5n.231T>C
c.1764T>C (p.Ala588=)
c.2172T>C (p.Ala724=)
n.3208T>C
c.2169T>C (p.Ala723=)
c.2214T>C (p.Ala738=)
n.2549T>C
c.2211T>C (p.Ala737=)
c.2136T>C (p.Ala712=)
c.2133T>C (p.Ala711=)
c.2121T>C (p.Ala707=)
11g.22272968T>GCA473407655ANO5n.231T>G
c.1764T>G (p.Ala588=)
c.2172T>G (p.Ala724=)
n.3208T>G
c.2169T>G (p.Ala723=)
c.2214T>G (p.Ala738=)
n.2549T>G
c.2211T>G (p.Ala737=)
c.2136T>G (p.Ala712=)
c.2133T>G (p.Ala711=)
c.2121T>G (p.Ala707=)
11g.22272969G>ACA379924023ANO5n.232G>A
c.1765G>A (p.Val589Ile)
c.2173G>A (p.Val725Ile)
n.3209G>A
c.2170G>A (p.Val724Ile)
c.2215G>A (p.Val739Ile)
n.2550G>A
c.2212G>A (p.Val738Ile)
c.2137G>A (p.Val713Ile)
c.2134G>A (p.Val712Ile)
c.2122G>A (p.Val708Ile)
11g.22272969G>CCA5923475ANO5n.232G>C
c.1765G>C (p.Val589Leu)
c.2173G>C (p.Val725Leu)
n.3209G>C
c.2170G>C (p.Val724Leu)
c.2215G>C (p.Val739Leu)
n.2550G>C
c.2212G>C (p.Val738Leu)
c.2137G>C (p.Val713Leu)
c.2134G>C (p.Val712Leu)
c.2122G>C (p.Val708Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272969G=CA1957403137ANO5n.232G=
c.1765G= (p.Val589=)
c.2173G= (p.Val725=)
n.3209G=
c.2170G= (p.Val724=)
c.2215G= (p.Val739=)
n.2550G=
c.2212G= (p.Val738=)
c.2137G= (p.Val713=)
c.2134G= (p.Val712=)
c.2122G= (p.Val708=)
11g.22272969G>TCA379924024ANO5n.232G>T
c.1765G>T (p.Val589Phe)
c.2173G>T (p.Val725Phe)
n.3209G>T
c.2170G>T (p.Val724Phe)
c.2215G>T (p.Val739Phe)
n.2550G>T
c.2212G>T (p.Val738Phe)
c.2137G>T (p.Val713Phe)
c.2134G>T (p.Val712Phe)
c.2122G>T (p.Val708Phe)
11g.22272970T>ACA379924025ANO5n.233T>A
c.1766T>A (p.Val589Asp)
c.2174T>A (p.Val725Asp)
n.3210T>A
c.2171T>A (p.Val724Asp)
c.2216T>A (p.Val739Asp)
n.2551T>A
c.2213T>A (p.Val738Asp)
c.2138T>A (p.Val713Asp)
c.2135T>A (p.Val712Asp)
c.2123T>A (p.Val708Asp)
11g.22272970T>CCA379924026ANO5n.233T>C
c.1766T>C (p.Val589Ala)
c.2174T>C (p.Val725Ala)
n.3210T>C
c.2171T>C (p.Val724Ala)
c.2216T>C (p.Val739Ala)
n.2551T>C
c.2213T>C (p.Val738Ala)
c.2138T>C (p.Val713Ala)
c.2135T>C (p.Val712Ala)
c.2123T>C (p.Val708Ala)
11g.22272970T>GCA379924027ANO5n.233T>G
c.1766T>G (p.Val589Gly)
c.2174T>G (p.Val725Gly)
n.3210T>G
c.2171T>G (p.Val724Gly)
c.2216T>G (p.Val739Gly)
n.2551T>G
c.2213T>G (p.Val738Gly)
c.2138T>G (p.Val713Gly)
c.2135T>G (p.Val712Gly)
c.2123T>G (p.Val708Gly)
 ClinVar dbSNP
11g.22272971C>ACA473407657ANO5n.234C>A
c.1767C>A (p.Val589=)
c.2175C>A (p.Val725=)
n.3211C>A
c.2172C>A (p.Val724=)
c.2217C>A (p.Val739=)
n.2552C>A
c.2214C>A (p.Val738=)
c.2139C>A (p.Val713=)
c.2136C>A (p.Val712=)
c.2124C>A (p.Val708=)
 dbSNP gnomAD v4
11g.22272971C=CA1957403141ANO5n.234C=
c.1767C= (p.Val589=)
c.2175C= (p.Val725=)
n.3211C=
c.2172C= (p.Val724=)
c.2217C= (p.Val739=)
n.2552C=
c.2214C= (p.Val738=)
c.2139C= (p.Val713=)
c.2136C= (p.Val712=)
c.2124C= (p.Val708=)
11g.22272971C>GCA473407661ANO5n.234C>G
c.1767C>G (p.Val589=)
c.2175C>G (p.Val725=)
n.3211C>G
c.2172C>G (p.Val724=)
c.2217C>G (p.Val739=)
n.2552C>G
c.2214C>G (p.Val738=)
c.2139C>G (p.Val713=)
c.2136C>G (p.Val712=)
c.2124C>G (p.Val708=)
11g.22272971C>TCA473407659ANO5n.234C>T
c.1767C>T (p.Val589=)
c.2175C>T (p.Val725=)
n.3211C>T
c.2172C>T (p.Val724=)
c.2217C>T (p.Val739=)
n.2552C>T
c.2214C>T (p.Val738=)
c.2139C>T (p.Val713=)
c.2136C>T (p.Val712=)
c.2124C>T (p.Val708=)
 gnomAD v4
11g.22272972C>ACA379924030ANO5n.235C>A
c.1768C>A (p.Leu590Ile)
c.2176C>A (p.Leu726Ile)
n.3212C>A
c.2173C>A (p.Leu725Ile)
c.2218C>A (p.Leu740Ile)
n.2553C>A
c.2215C>A (p.Leu739Ile)
c.2140C>A (p.Leu714Ile)
c.2137C>A (p.Leu713Ile)
c.2125C>A (p.Leu709Ile)
11g.22272972C>GCA379924029ANO5n.235C>G
c.1768C>G (p.Leu590Val)
c.2176C>G (p.Leu726Val)
n.3212C>G
c.2173C>G (p.Leu725Val)
c.2218C>G (p.Leu740Val)
n.2553C>G
c.2215C>G (p.Leu739Val)
c.2140C>G (p.Leu714Val)
c.2137C>G (p.Leu713Val)
c.2125C>G (p.Leu709Val)
 ClinVar dbSNP
11g.22272972C>TCA379924028ANO5n.235C>T
c.1768C>T (p.Leu590Phe)
c.2176C>T (p.Leu726Phe)
n.3212C>T
c.2173C>T (p.Leu725Phe)
c.2218C>T (p.Leu740Phe)
n.2553C>T
c.2215C>T (p.Leu739Phe)
c.2140C>T (p.Leu714Phe)
c.2137C>T (p.Leu713Phe)
c.2125C>T (p.Leu709Phe)
11g.22272973T>ACA379924031ANO5n.236T>A
c.1769T>A (p.Leu590His)
c.2177T>A (p.Leu726His)
n.3213T>A
c.2174T>A (p.Leu725His)
c.2219T>A (p.Leu740His)
n.2554T>A
c.2216T>A (p.Leu739His)
c.2141T>A (p.Leu714His)
c.2138T>A (p.Leu713His)
c.2126T>A (p.Leu709His)
11g.22272973T>CCA379924032ANO5n.236T>C
c.1769T>C (p.Leu590Pro)
c.2177T>C (p.Leu726Pro)
n.3213T>C
c.2174T>C (p.Leu725Pro)
c.2219T>C (p.Leu740Pro)
n.2554T>C
c.2216T>C (p.Leu739Pro)
c.2141T>C (p.Leu714Pro)
c.2138T>C (p.Leu713Pro)
c.2126T>C (p.Leu709Pro)
11g.22272973T>GCA379924033ANO5n.236T>G
c.1769T>G (p.Leu590Arg)
c.2177T>G (p.Leu726Arg)
n.3213T>G
c.2174T>G (p.Leu725Arg)
c.2219T>G (p.Leu740Arg)
n.2554T>G
c.2216T>G (p.Leu739Arg)
c.2141T>G (p.Leu714Arg)
c.2138T>G (p.Leu713Arg)
c.2126T>G (p.Leu709Arg)
11g.22272974T>ACA473407664ANO5n.237T>A
c.1770T>A (p.Leu590=)
c.2178T>A (p.Leu726=)
n.3214T>A
c.2175T>A (p.Leu725=)
c.2220T>A (p.Leu740=)
n.2555T>A
c.2217T>A (p.Leu739=)
c.2142T>A (p.Leu714=)
c.2139T>A (p.Leu713=)
c.2127T>A (p.Leu709=)
11g.22272974T>CCA473407665ANO5n.237T>C
c.1770T>C (p.Leu590=)
c.2178T>C (p.Leu726=)
n.3214T>C
c.2175T>C (p.Leu725=)
c.2220T>C (p.Leu740=)
n.2555T>C
c.2217T>C (p.Leu739=)
c.2142T>C (p.Leu714=)
c.2139T>C (p.Leu713=)
c.2127T>C (p.Leu709=)
11g.22272974T>GCA473407666ANO5n.237T>G
c.1770T>G (p.Leu590=)
c.2178T>G (p.Leu726=)
n.3214T>G
c.2175T>G (p.Leu725=)
c.2220T>G (p.Leu740=)
n.2555T>G
c.2217T>G (p.Leu739=)
c.2142T>G (p.Leu714=)
c.2139T>G (p.Leu713=)
c.2127T>G (p.Leu709=)
11g.22272975T>ACA379924034ANO5n.238T>A
c.1771T>A (p.Ser591Thr)
c.2179T>A (p.Ser727Thr)
n.3215T>A
c.2176T>A (p.Ser726Thr)
c.2221T>A (p.Ser741Thr)
n.2556T>A
c.2218T>A (p.Ser740Thr)
c.2143T>A (p.Ser715Thr)
c.2140T>A (p.Ser714Thr)
c.2128T>A (p.Ser710Thr)
11g.22272975T>CCA379924035ANO5n.238T>C
c.1771T>C (p.Ser591Pro)
c.2179T>C (p.Ser727Pro)
n.3215T>C
c.2176T>C (p.Ser726Pro)
c.2221T>C (p.Ser741Pro)
n.2556T>C
c.2218T>C (p.Ser740Pro)
c.2143T>C (p.Ser715Pro)
c.2140T>C (p.Ser714Pro)
c.2128T>C (p.Ser710Pro)
11g.22272975T>GCA379924036ANO5n.238T>G
c.1771T>G (p.Ser591Ala)
c.2179T>G (p.Ser727Ala)
n.3215T>G
c.2176T>G (p.Ser726Ala)
c.2221T>G (p.Ser741Ala)
n.2556T>G
c.2218T>G (p.Ser740Ala)
c.2143T>G (p.Ser715Ala)
c.2140T>G (p.Ser714Ala)
c.2128T>G (p.Ser710Ala)
11g.22272976C>ACA379924037ANO5n.239C>A
c.1772C>A (p.Ser591Tyr)
c.2180C>A (p.Ser727Tyr)
n.3216C>A
c.2177C>A (p.Ser726Tyr)
c.2222C>A (p.Ser741Tyr)
n.2557C>A
c.2219C>A (p.Ser740Tyr)
c.2144C>A (p.Ser715Tyr)
c.2141C>A (p.Ser714Tyr)
c.2129C>A (p.Ser710Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22272976C=CA1957403144ANO5n.239C=
c.1772C= (p.Ser591=)
c.2180C= (p.Ser727=)
n.3216C=
c.2177C= (p.Ser726=)
c.2222C= (p.Ser741=)
n.2557C=
c.2219C= (p.Ser740=)
c.2144C= (p.Ser715=)
c.2141C= (p.Ser714=)
c.2129C= (p.Ser710=)
11g.22272976C>GCA379924038ANO5n.239C>G
c.1772C>G (p.Ser591Cys)
c.2180C>G (p.Ser727Cys)
n.3216C>G
c.2177C>G (p.Ser726Cys)
c.2222C>G (p.Ser741Cys)
n.2557C>G
c.2219C>G (p.Ser740Cys)
c.2144C>G (p.Ser715Cys)
c.2141C>G (p.Ser714Cys)
c.2129C>G (p.Ser710Cys)
11g.22272976C>TCA379924039ANO5n.239C>T
c.1772C>T (p.Ser591Phe)
c.2180C>T (p.Ser727Phe)
n.3216C>T
c.2177C>T (p.Ser726Phe)
c.2222C>T (p.Ser741Phe)
n.2557C>T
c.2219C>T (p.Ser740Phe)
c.2144C>T (p.Ser715Phe)
c.2141C>T (p.Ser714Phe)
c.2129C>T (p.Ser710Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22272977T>ACA473407670ANO5n.240T>A
c.1773T>A (p.Ser591=)
c.2181T>A (p.Ser727=)
n.3217T>A
c.2178T>A (p.Ser726=)
c.2223T>A (p.Ser741=)
n.2558T>A
c.2220T>A (p.Ser740=)
c.2145T>A (p.Ser715=)
c.2142T>A (p.Ser714=)
c.2130T>A (p.Ser710=)
11g.22272977T>CCA473407671ANO5n.240T>C
c.1773T>C (p.Ser591=)
c.2181T>C (p.Ser727=)
n.3217T>C
c.2178T>C (p.Ser726=)
c.2223T>C (p.Ser741=)
n.2558T>C
c.2220T>C (p.Ser740=)
c.2145T>C (p.Ser715=)
c.2142T>C (p.Ser714=)
c.2130T>C (p.Ser710=)
11g.22272977T>GCA473407672ANO5n.240T>G
c.1773T>G (p.Ser591=)
c.2181T>G (p.Ser727=)
n.3217T>G
c.2178T>G (p.Ser726=)
c.2223T>G (p.Ser741=)
n.2558T>G
c.2220T>G (p.Ser740=)
c.2145T>G (p.Ser715=)
c.2142T>G (p.Ser714=)
c.2130T>G (p.Ser710=)
11g.22272978G>ACA379924040ANO5n.241G>A
c.1774G>A (p.Val592Ile)
c.2182G>A (p.Val728Ile)
n.3218G>A
c.2179G>A (p.Val727Ile)
c.2224G>A (p.Val742Ile)
n.2559G>A
c.2221G>A (p.Val741Ile)
c.2146G>A (p.Val716Ile)
c.2143G>A (p.Val715Ile)
c.2131G>A (p.Val711Ile)
 gnomAD v4 COSMIC
11g.22272978G>CCA379924041ANO5n.241G>C
c.1774G>C (p.Val592Leu)
c.2182G>C (p.Val728Leu)
n.3218G>C
c.2179G>C (p.Val727Leu)
c.2224G>C (p.Val742Leu)
n.2559G>C
c.2221G>C (p.Val741Leu)
c.2146G>C (p.Val716Leu)
c.2143G>C (p.Val715Leu)
c.2131G>C (p.Val711Leu)
11g.22272978G>TCA379924042ANO5n.241G>T
c.1774G>T (p.Val592Phe)
c.2182G>T (p.Val728Phe)
n.3218G>T
c.2179G>T (p.Val727Phe)
c.2224G>T (p.Val742Phe)
n.2559G>T
c.2221G>T (p.Val741Phe)
c.2146G>T (p.Val716Phe)
c.2143G>T (p.Val715Phe)
c.2131G>T (p.Val711Phe)
 gnomAD v4
11g.22272979T>ACA379924045ANO5n.242T>A
c.1775T>A (p.Val592Asp)
c.2183T>A (p.Val728Asp)
n.3219T>A
c.2180T>A (p.Val727Asp)
c.2225T>A (p.Val742Asp)
n.2560T>A
c.2222T>A (p.Val741Asp)
c.2147T>A (p.Val716Asp)
c.2144T>A (p.Val715Asp)
c.2132T>A (p.Val711Asp)
11g.22272979T>CCA379924044ANO5n.242T>C
c.1775T>C (p.Val592Ala)
c.2183T>C (p.Val728Ala)
n.3219T>C
c.2180T>C (p.Val727Ala)
c.2225T>C (p.Val742Ala)
n.2560T>C
c.2222T>C (p.Val741Ala)
c.2147T>C (p.Val716Ala)
c.2144T>C (p.Val715Ala)
c.2132T>C (p.Val711Ala)
11g.22272979T>GCA379924043ANO5n.242T>G
c.1775T>G (p.Val592Gly)
c.2183T>G (p.Val728Gly)
n.3219T>G
c.2180T>G (p.Val727Gly)
c.2225T>G (p.Val742Gly)
n.2560T>G
c.2222T>G (p.Val741Gly)
c.2147T>G (p.Val716Gly)
c.2144T>G (p.Val715Gly)
c.2132T>G (p.Val711Gly)
11g.22272980T>ACA473407676ANO5n.243T>A
c.1776T>A (p.Val592=)
c.2184T>A (p.Val728=)
n.3220T>A
c.2181T>A (p.Val727=)
c.2226T>A (p.Val742=)
n.2561T>A
c.2223T>A (p.Val741=)
c.2148T>A (p.Val716=)
c.2145T>A (p.Val715=)
c.2133T>A (p.Val711=)
11g.22272980T>CCA473407677ANO5n.243T>C
c.1776T>C (p.Val592=)
c.2184T>C (p.Val728=)
n.3220T>C
c.2181T>C (p.Val727=)
c.2226T>C (p.Val742=)
n.2561T>C
c.2223T>C (p.Val741=)
c.2148T>C (p.Val716=)
c.2145T>C (p.Val715=)
c.2133T>C (p.Val711=)
11g.22272980T>GCA473407678ANO5n.243T>G
c.1776T>G (p.Val592=)
c.2184T>G (p.Val728=)
n.3220T>G
c.2181T>G (p.Val727=)
c.2226T>G (p.Val742=)
n.2561T>G
c.2223T>G (p.Val741=)
c.2148T>G (p.Val716=)
c.2145T>G (p.Val715=)
c.2133T>G (p.Val711=)
11g.22272981G>ACA379924046ANO5n.244G>A
c.1777G>A (p.Ala593Thr)
c.2185G>A (p.Ala729Thr)
n.3221G>A
c.2182G>A (p.Ala728Thr)
c.2227G>A (p.Ala743Thr)
n.2562G>A
c.2224G>A (p.Ala742Thr)
c.2149G>A (p.Ala717Thr)
c.2146G>A (p.Ala716Thr)
c.2134G>A (p.Ala712Thr)
 gnomAD v4
11g.22272981G>CCA379924047ANO5n.244G>C
c.1777G>C (p.Ala593Pro)
c.2185G>C (p.Ala729Pro)
n.3221G>C
c.2182G>C (p.Ala728Pro)
c.2227G>C (p.Ala743Pro)
n.2562G>C
c.2224G>C (p.Ala742Pro)
c.2149G>C (p.Ala717Pro)
c.2146G>C (p.Ala716Pro)
c.2134G>C (p.Ala712Pro)
11g.22272981G>TCA379924048ANO5n.244G>T
c.1777G>T (p.Ala593Ser)
c.2185G>T (p.Ala729Ser)
n.3221G>T
c.2182G>T (p.Ala728Ser)
c.2227G>T (p.Ala743Ser)
n.2562G>T
c.2224G>T (p.Ala742Ser)
c.2149G>T (p.Ala717Ser)
c.2146G>T (p.Ala716Ser)
c.2134G>T (p.Ala712Ser)
 COSMIC
11g.22272982C>ACA379924049ANO5n.245C>A
c.1778C>A (p.Ala593Glu)
c.2186C>A (p.Ala729Glu)
n.3222C>A
c.2183C>A (p.Ala728Glu)
c.2228C>A (p.Ala743Glu)
n.2563C>A
c.2225C>A (p.Ala742Glu)
c.2150C>A (p.Ala717Glu)
c.2147C>A (p.Ala716Glu)
c.2135C>A (p.Ala712Glu)
11g.22272982C>GCA379924050ANO5n.245C>G
c.1778C>G (p.Ala593Gly)
c.2186C>G (p.Ala729Gly)
n.3222C>G
c.2183C>G (p.Ala728Gly)
c.2228C>G (p.Ala743Gly)
n.2563C>G
c.2225C>G (p.Ala742Gly)
c.2150C>G (p.Ala717Gly)
c.2147C>G (p.Ala716Gly)
c.2135C>G (p.Ala712Gly)
11g.22272982C>TCA379924051ANO5n.245C>T
c.1778C>T (p.Ala593Val)
c.2186C>T (p.Ala729Val)
n.3222C>T
c.2183C>T (p.Ala728Val)
c.2228C>T (p.Ala743Val)
n.2563C>T
c.2225C>T (p.Ala742Val)
c.2150C>T (p.Ala717Val)
c.2147C>T (p.Ala716Val)
c.2135C>T (p.Ala712Val)
 COSMIC

Number of alleles fetched