Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.27936764A>CCA468753318ODAD2c.2214T>G (p.Ala738=)
c.1290T>G (p.Ala430=)
c.789T>G (p.Ala263=)
c.2004T>G (p.Ala668=)
c.1128T>G (p.Ala376=)
10g.27936764A>GCA468753320ODAD2c.2214T>C (p.Ala738=)
c.1290T>C (p.Ala430=)
c.789T>C (p.Ala263=)
c.2004T>C (p.Ala668=)
c.1128T>C (p.Ala376=)
10g.27936764A>TCA468753319ODAD2c.2214T>A (p.Ala738=)
c.1290T>A (p.Ala430=)
c.789T>A (p.Ala263=)
c.2004T>A (p.Ala668=)
c.1128T>A (p.Ala376=)
10g.27936765G>ACA376391807ODAD2c.2213C>T (p.Ala738Val)
c.1289C>T (p.Ala430Val)
c.788C>T (p.Ala263Val)
c.2003C>T (p.Ala668Val)
c.1127C>T (p.Ala376Val)
10g.27936765G>CCA376391808ODAD2c.2213C>G (p.Ala738Gly)
c.1289C>G (p.Ala430Gly)
c.788C>G (p.Ala263Gly)
c.2003C>G (p.Ala668Gly)
c.1127C>G (p.Ala376Gly)
10g.27936765G>TCA376391809ODAD2c.2213C>A (p.Ala738Asp)
c.1289C>A (p.Ala430Asp)
c.788C>A (p.Ala263Asp)
c.2003C>A (p.Ala668Asp)
c.1127C>A (p.Ala376Asp)
10g.27936766C>ACA376391810ODAD2c.2212G>T (p.Ala738Ser)
c.1288G>T (p.Ala430Ser)
c.787G>T (p.Ala263Ser)
c.2002G>T (p.Ala668Ser)
c.1126G>T (p.Ala376Ser)
10g.27936766C>GCA376391812ODAD2c.2212G>C (p.Ala738Pro)
c.1288G>C (p.Ala430Pro)
c.787G>C (p.Ala263Pro)
c.2002G>C (p.Ala668Pro)
c.1126G>C (p.Ala376Pro)
10g.27936766C>TCA376391811ODAD2c.2212G>A (p.Ala738Thr)
c.1288G>A (p.Ala430Thr)
c.787G>A (p.Ala263Thr)
c.2002G>A (p.Ala668Thr)
c.1126G>A (p.Ala376Thr)
10g.27936767C>ACA468753323ODAD2c.2211G>T (p.Gly737=)
c.1287G>T (p.Gly429=)
c.786G>T (p.Gly262=)
c.2001G>T (p.Gly667=)
c.1125G>T (p.Gly375=)
10g.27936767C>GCA468753322ODAD2c.2211G>C (p.Gly737=)
c.1287G>C (p.Gly429=)
c.786G>C (p.Gly262=)
c.2001G>C (p.Gly667=)
c.1125G>C (p.Gly375=)
10g.27936767C>TCA468753321ODAD2c.2211G>A (p.Gly737=)
c.1287G>A (p.Gly429=)
c.786G>A (p.Gly262=)
c.2001G>A (p.Gly667=)
c.1125G>A (p.Gly375=)
gnomAD v4
10g.27936768C>ACA376391813ODAD2c.2210G>T (p.Gly737Val)
c.1286G>T (p.Gly429Val)
c.785G>T (p.Gly262Val)
c.2000G>T (p.Gly667Val)
c.1124G>T (p.Gly375Val)
10g.27936768C>GCA376391814ODAD2c.2210G>C (p.Gly737Ala)
c.1286G>C (p.Gly429Ala)
c.785G>C (p.Gly262Ala)
c.2000G>C (p.Gly667Ala)
c.1124G>C (p.Gly375Ala)
10g.27936768C>TCA376391815ODAD2c.2210G>A (p.Gly737Glu)
c.1286G>A (p.Gly429Glu)
c.785G>A (p.Gly262Glu)
c.2000G>A (p.Gly667Glu)
c.1124G>A (p.Gly375Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.27936769C>ACA376391816ODAD2c.2209G>T (p.Gly737Trp)
c.1285G>T (p.Gly429Trp)
c.784G>T (p.Gly262Trp)
c.1999G>T (p.Gly667Trp)
c.1123G>T (p.Gly375Trp)
10g.27936769C>GCA376391817ODAD2c.2209G>C (p.Gly737Arg)
c.1285G>C (p.Gly429Arg)
c.784G>C (p.Gly262Arg)
c.1999G>C (p.Gly667Arg)
c.1123G>C (p.Gly375Arg)
10g.27936769C>TCA5453277ODAD2c.2209G>A (p.Gly737Arg)
c.1285G>A (p.Gly429Arg)
c.784G>A (p.Gly262Arg)
c.1999G>A (p.Gly667Arg)
c.1123G>A (p.Gly375Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936770T>ACA468753324ODAD2c.2208A>T (p.Thr736=)
c.1284A>T (p.Thr428=)
c.783A>T (p.Thr261=)
c.1998A>T (p.Thr666=)
c.1122A>T (p.Thr374=)
dbSNP gnomAD v2 gnomAD v4
10g.27936770T>CCA5453278ODAD2c.2208A>G (p.Thr736=)
c.1284A>G (p.Thr428=)
c.783A>G (p.Thr261=)
c.1998A>G (p.Thr666=)
c.1122A>G (p.Thr374=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936770T>GCA468753325ODAD2c.2208A>C (p.Thr736=)
c.1284A>C (p.Thr428=)
c.783A>C (p.Thr261=)
c.1998A>C (p.Thr666=)
c.1122A>C (p.Thr374=)
dbSNP gnomAD v4
10g.27936771G>ACA376391818ODAD2c.2207C>T (p.Thr736Ile)
c.1283C>T (p.Thr428Ile)
c.782C>T (p.Thr261Ile)
c.1997C>T (p.Thr666Ile)
c.1121C>T (p.Thr374Ile)
10g.27936771G>CCA376391819ODAD2c.2207C>G (p.Thr736Arg)
c.1283C>G (p.Thr428Arg)
c.782C>G (p.Thr261Arg)
c.1997C>G (p.Thr666Arg)
c.1121C>G (p.Thr374Arg)
10g.27936771G>TCA376391820ODAD2c.2207C>A (p.Thr736Lys)
c.1283C>A (p.Thr428Lys)
c.782C>A (p.Thr261Lys)
c.1997C>A (p.Thr666Lys)
c.1121C>A (p.Thr374Lys)
10g.27936772T>ACA376391823ODAD2c.2206A>T (p.Thr736Ser)
c.1282A>T (p.Thr428Ser)
c.781A>T (p.Thr261Ser)
c.1996A>T (p.Thr666Ser)
c.1120A>T (p.Thr374Ser)
10g.27936772T>CCA376391822ODAD2c.2206A>G (p.Thr736Ala)
c.1282A>G (p.Thr428Ala)
c.781A>G (p.Thr261Ala)
c.1996A>G (p.Thr666Ala)
c.1120A>G (p.Thr374Ala)
10g.27936772T>GCA376391821ODAD2c.2206A>C (p.Thr736Pro)
c.1282A>C (p.Thr428Pro)
c.781A>C (p.Thr261Pro)
c.1996A>C (p.Thr666Pro)
c.1120A>C (p.Thr374Pro)
gnomAD v4
10g.27936773G>ACA468753326ODAD2c.2205C>T (p.Val735=)
c.1281C>T (p.Val427=)
c.780C>T (p.Val260=)
c.1995C>T (p.Val665=)
c.1119C>T (p.Val373=)
10g.27936773G>CCA468753327ODAD2c.2205C>G (p.Val735=)
c.1281C>G (p.Val427=)
c.780C>G (p.Val260=)
c.1995C>G (p.Val665=)
c.1119C>G (p.Val373=)
10g.27936773G>TCA468753328ODAD2c.2205C>A (p.Val735=)
c.1281C>A (p.Val427=)
c.780C>A (p.Val260=)
c.1995C>A (p.Val665=)
c.1119C>A (p.Val373=)
10g.27936774A>CCA376391824ODAD2c.2204T>G (p.Val735Gly)
c.1280T>G (p.Val427Gly)
c.779T>G (p.Val260Gly)
c.1994T>G (p.Val665Gly)
c.1118T>G (p.Val373Gly)
10g.27936774A>GCA376391825ODAD2c.2204T>C (p.Val735Ala)
c.1280T>C (p.Val427Ala)
c.779T>C (p.Val260Ala)
c.1994T>C (p.Val665Ala)
c.1118T>C (p.Val373Ala)
gnomAD v4
10g.27936774A>TCA376391826ODAD2c.2204T>A (p.Val735Asp)
c.1280T>A (p.Val427Asp)
c.779T>A (p.Val260Asp)
c.1994T>A (p.Val665Asp)
c.1118T>A (p.Val373Asp)
10g.27936775C>ACA376391827ODAD2c.2203G>T (p.Val735Phe)
c.1279G>T (p.Val427Phe)
c.778G>T (p.Val260Phe)
c.1993G>T (p.Val665Phe)
c.1117G>T (p.Val373Phe)
10g.27936775C>GCA376391828ODAD2c.2203G>C (p.Val735Leu)
c.1279G>C (p.Val427Leu)
c.778G>C (p.Val260Leu)
c.1993G>C (p.Val665Leu)
c.1117G>C (p.Val373Leu)
10g.27936775C>TCA376391829ODAD2c.2203G>A (p.Val735Ile)
c.1279G>A (p.Val427Ile)
c.778G>A (p.Val260Ile)
c.1993G>A (p.Val665Ile)
c.1117G>A (p.Val373Ile)
10g.27936776A>CCA468753329ODAD2c.2202T>G (p.Ala734=)
c.1278T>G (p.Ala426=)
c.777T>G (p.Ala259=)
c.1992T>G (p.Ala664=)
c.1116T>G (p.Ala372=)
10g.27936776A>GCA5453279ODAD2c.2202T>C (p.Ala734=)
c.1278T>C (p.Ala426=)
c.777T>C (p.Ala259=)
c.1992T>C (p.Ala664=)
c.1116T>C (p.Ala372=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936776A>TCA468753330ODAD2c.2202T>A (p.Ala734=)
c.1278T>A (p.Ala426=)
c.777T>A (p.Ala259=)
c.1992T>A (p.Ala664=)
c.1116T>A (p.Ala372=)
10g.27936777G>ACA376391832ODAD2c.2201C>T (p.Ala734Val)
c.1277C>T (p.Ala426Val)
c.776C>T (p.Ala259Val)
c.1991C>T (p.Ala664Val)
c.1115C>T (p.Ala372Val)
10g.27936777G>CCA376391830ODAD2c.2201C>G (p.Ala734Gly)
c.1277C>G (p.Ala426Gly)
c.776C>G (p.Ala259Gly)
c.1991C>G (p.Ala664Gly)
c.1115C>G (p.Ala372Gly)
10g.27936777G>TCA376391831ODAD2c.2201C>A (p.Ala734Asp)
c.1277C>A (p.Ala426Asp)
c.776C>A (p.Ala259Asp)
c.1991C>A (p.Ala664Asp)
c.1115C>A (p.Ala372Asp)
10g.27936778C>ACA376391833ODAD2c.2200G>T (p.Ala734Ser)
c.1276G>T (p.Ala426Ser)
c.775G>T (p.Ala259Ser)
c.1990G>T (p.Ala664Ser)
c.1114G>T (p.Ala372Ser)
10g.27936778C>GCA376391834ODAD2c.2200G>C (p.Ala734Pro)
c.1276G>C (p.Ala426Pro)
c.775G>C (p.Ala259Pro)
c.1990G>C (p.Ala664Pro)
c.1114G>C (p.Ala372Pro)
10g.27936778C>TCA204514457ODAD2c.2200G>A (p.Ala734Thr)
c.1276G>A (p.Ala426Thr)
c.775G>A (p.Ala259Thr)
c.1990G>A (p.Ala664Thr)
c.1114G>A (p.Ala372Thr)
dbSNP gnomAD v3 gnomAD v4
10g.27936779A>CCA468753331ODAD2c.2199T>G (p.Ala733=)
c.1275T>G (p.Ala425=)
c.774T>G (p.Ala258=)
c.1989T>G (p.Ala663=)
c.1113T>G (p.Ala371=)
10g.27936779A>GCA468753332ODAD2c.2199T>C (p.Ala733=)
c.1275T>C (p.Ala425=)
c.774T>C (p.Ala258=)
c.1989T>C (p.Ala663=)
c.1113T>C (p.Ala371=)
10g.27936779A>TCA468753333ODAD2c.2199T>A (p.Ala733=)
c.1275T>A (p.Ala425=)
c.774T>A (p.Ala258=)
c.1989T>A (p.Ala663=)
c.1113T>A (p.Ala371=)
10g.27936780G>ACA376391835ODAD2c.2198C>T (p.Ala733Val)
c.1274C>T (p.Ala425Val)
c.773C>T (p.Ala258Val)
c.1988C>T (p.Ala663Val)
c.1112C>T (p.Ala371Val)
10g.27936780G>CCA376391836ODAD2c.2198C>G (p.Ala733Gly)
c.1274C>G (p.Ala425Gly)
c.773C>G (p.Ala258Gly)
c.1988C>G (p.Ala663Gly)
c.1112C>G (p.Ala371Gly)
10g.27936780G>TCA376391837ODAD2c.2198C>A (p.Ala733Asp)
c.1274C>A (p.Ala425Asp)
c.773C>A (p.Ala258Asp)
c.1988C>A (p.Ala663Asp)
c.1112C>A (p.Ala371Asp)
dbSNP
10g.27936781C>ACA376391838ODAD2c.2197G>T (p.Ala733Ser)
c.1273G>T (p.Ala425Ser)
c.772G>T (p.Ala258Ser)
c.1987G>T (p.Ala663Ser)
c.1111G>T (p.Ala371Ser)
10g.27936781C>GCA376391840ODAD2c.2197G>C (p.Ala733Pro)
c.1273G>C (p.Ala425Pro)
c.772G>C (p.Ala258Pro)
c.1987G>C (p.Ala663Pro)
c.1111G>C (p.Ala371Pro)
10g.27936781C>TCA376391839ODAD2c.2197G>A (p.Ala733Thr)
c.1273G>A (p.Ala425Thr)
c.772G>A (p.Ala258Thr)
c.1987G>A (p.Ala663Thr)
c.1111G>A (p.Ala371Thr)
10g.27936782_27936785delCA663432763ODAD2c.2194_2197del (p.Ala733LeufsTer?)
c.1270_1273del (p.Ala425LeufsTer?)
c.769_772del (p.Ala258LeufsTer?)
c.1984_1987del (p.Ala663LeufsTer?)
c.1108_1111del (p.Ala371LeufsTer?)
dbSNP
10g.27936781_27936786delCA468753334ODAD2c.2192_2197del (p.Arg731_Ala733delinsPro)
c.1268_1273del (p.Arg423_Ala425delinsPro)
c.767_772del (p.Arg256_Ala258delinsPro)
c.1982_1987del (p.Arg661_Ala663delinsPro)
c.1106_1111del (p.Arg369_Ala371delinsPro)
10g.27936782T>ACA376391841ODAD2c.2196A>T (p.Leu732Phe)
c.1272A>T (p.Leu424Phe)
c.771A>T (p.Leu257Phe)
c.1986A>T (p.Leu662Phe)
c.1110A>T (p.Leu370Phe)
10g.27936782T>CCA468753335ODAD2c.2196A>G (p.Leu732=)
c.1272A>G (p.Leu424=)
c.771A>G (p.Leu257=)
c.1986A>G (p.Leu662=)
c.1110A>G (p.Leu370=)
10g.27936782T>GCA376391842ODAD2c.2196A>C (p.Leu732Phe)
c.1272A>C (p.Leu424Phe)
c.771A>C (p.Leu257Phe)
c.1986A>C (p.Leu662Phe)
c.1110A>C (p.Leu370Phe)
10g.27936783A>CCA376391843ODAD2c.2195T>G (p.Leu732Ter)
c.1271T>G (p.Leu424Ter)
c.770T>G (p.Leu257Ter)
c.1985T>G (p.Leu662Ter)
c.1109T>G (p.Leu370Ter)
gnomAD v4
10g.27936783A>GCA376391844ODAD2c.2195T>C (p.Leu732Ser)
c.1271T>C (p.Leu424Ser)
c.770T>C (p.Leu257Ser)
c.1985T>C (p.Leu662Ser)
c.1109T>C (p.Leu370Ser)
10g.27936783A>TCA376391845ODAD2c.2195T>A (p.Leu732Ter)
c.1271T>A (p.Leu424Ter)
c.770T>A (p.Leu257Ter)
c.1985T>A (p.Leu662Ter)
c.1109T>A (p.Leu370Ter)
10g.27936784A>CCA376391846ODAD2c.2194T>G (p.Leu732Val)
c.1270T>G (p.Leu424Val)
c.769T>G (p.Leu257Val)
c.1984T>G (p.Leu662Val)
c.1108T>G (p.Leu370Val)
10g.27936784A>GCA468753336ODAD2c.2194T>C (p.Leu732=)
c.1270T>C (p.Leu424=)
c.769T>C (p.Leu257=)
c.1984T>C (p.Leu662=)
c.1108T>C (p.Leu370=)
COSMIC
10g.27936784A>TCA376391847ODAD2c.2194T>A (p.Leu732Ile)
c.1270T>A (p.Leu424Ile)
c.769T>A (p.Leu257Ile)
c.1984T>A (p.Leu662Ile)
c.1108T>A (p.Leu370Ile)
10g.27936785C>ACA468753338ODAD2c.2193G>T (p.Arg731=)
c.1269G>T (p.Arg423=)
c.768G>T (p.Arg256=)
c.1983G>T (p.Arg661=)
c.1107G>T (p.Arg369=)
10g.27936785C>GCA468753339ODAD2c.2193G>C (p.Arg731=)
c.1269G>C (p.Arg423=)
c.768G>C (p.Arg256=)
c.1983G>C (p.Arg661=)
c.1107G>C (p.Arg369=)
dbSNP
10g.27936785C>TCA468753337ODAD2c.2193G>A (p.Arg731=)
c.1269G>A (p.Arg423=)
c.768G>A (p.Arg256=)
c.1983G>A (p.Arg661=)
c.1107G>A (p.Arg369=)
10g.27936786C>ACA376391848ODAD2c.2192G>T (p.Arg731Leu)
c.1268G>T (p.Arg423Leu)
c.767G>T (p.Arg256Leu)
c.1982G>T (p.Arg661Leu)
c.1106G>T (p.Arg369Leu)
gnomAD v4
10g.27936786C>GCA376391849ODAD2c.2192G>C (p.Arg731Pro)
c.1268G>C (p.Arg423Pro)
c.767G>C (p.Arg256Pro)
c.1982G>C (p.Arg661Pro)
c.1106G>C (p.Arg369Pro)
dbSNP gnomAD v4
10g.27936786C>TCA5453280ODAD2c.2192G>A (p.Arg731Gln)
c.1268G>A (p.Arg423Gln)
c.767G>A (p.Arg256Gln)
c.1982G>A (p.Arg661Gln)
c.1106G>A (p.Arg369Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.27936787G>ACA5453281ODAD2c.2191C>T (p.Arg731Trp)
c.1267C>T (p.Arg423Trp)
c.766C>T (p.Arg256Trp)
c.1981C>T (p.Arg661Trp)
c.1105C>T (p.Arg369Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936787G>CCA376391850ODAD2c.2191C>G (p.Arg731Gly)
c.1267C>G (p.Arg423Gly)
c.766C>G (p.Arg256Gly)
c.1981C>G (p.Arg661Gly)
c.1105C>G (p.Arg369Gly)
10g.27936787G>TCA468753341ODAD2c.2191C>A (p.Arg731=)
c.1267C>A (p.Arg423=)
c.766C>A (p.Arg256=)
c.1981C>A (p.Arg661=)
c.1105C>A (p.Arg369=)
10g.27936787_27936788insGGCA468753340ODAD2c.2191_2192insCC (p.Arg731ProfsTer3)
c.1267_1268insCC (p.Arg423ProfsTer3)
c.766_767insCC (p.Arg256ProfsTer3)
c.1981_1982insCC (p.Arg661ProfsTer3)
c.1105_1106insCC (p.Arg369ProfsTer3)
10g.27936788C>ACA376391851ODAD2c.2190G>T (p.Glu730Asp)
c.1266G>T (p.Glu422Asp)
c.765G>T (p.Glu255Asp)
c.1980G>T (p.Glu660Asp)
c.1104G>T (p.Glu368Asp)
10g.27936788C>GCA376391852ODAD2c.2190G>C (p.Glu730Asp)
c.1266G>C (p.Glu422Asp)
c.765G>C (p.Glu255Asp)
c.1980G>C (p.Glu660Asp)
c.1104G>C (p.Glu368Asp)
10g.27936788C>TCA5453282ODAD2c.2190G>A (p.Glu730=)
c.1266G>A (p.Glu422=)
c.765G>A (p.Glu255=)
c.1980G>A (p.Glu660=)
c.1104G>A (p.Glu368=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936789T>ACA376391853ODAD2c.2189A>T (p.Glu730Val)
c.1265A>T (p.Glu422Val)
c.764A>T (p.Glu255Val)
c.1979A>T (p.Glu660Val)
c.1103A>T (p.Glu368Val)
10g.27936789T>CCA376391854ODAD2c.2189A>G (p.Glu730Gly)
c.1265A>G (p.Glu422Gly)
c.764A>G (p.Glu255Gly)
c.1979A>G (p.Glu660Gly)
c.1103A>G (p.Glu368Gly)
10g.27936789T>GCA376391855ODAD2c.2189A>C (p.Glu730Ala)
c.1265A>C (p.Glu422Ala)
c.764A>C (p.Glu255Ala)
c.1979A>C (p.Glu660Ala)
c.1103A>C (p.Glu368Ala)
10g.27936790C>ACA376391856ODAD2c.2188G>T (p.Glu730Ter)
c.1264G>T (p.Glu422Ter)
c.763G>T (p.Glu255Ter)
c.1978G>T (p.Glu660Ter)
c.1102G>T (p.Glu368Ter)
10g.27936790C>GCA376391857ODAD2c.2188G>C (p.Glu730Gln)
c.1264G>C (p.Glu422Gln)
c.763G>C (p.Glu255Gln)
c.1978G>C (p.Glu660Gln)
c.1102G>C (p.Glu368Gln)
10g.27936790C>TCA376391858ODAD2c.2188G>A (p.Glu730Lys)
c.1264G>A (p.Glu422Lys)
c.763G>A (p.Glu255Lys)
c.1978G>A (p.Glu660Lys)
c.1102G>A (p.Glu368Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.27936791T>ACA376391859ODAD2c.2187A>T (p.Lys729Asn)
c.1263A>T (p.Lys421Asn)
c.762A>T (p.Lys254Asn)
c.1977A>T (p.Lys659Asn)
c.1101A>T (p.Lys367Asn)
10g.27936791T>CCA5453283ODAD2c.2187A>G (p.Lys729=)
c.1263A>G (p.Lys421=)
c.762A>G (p.Lys254=)
c.1977A>G (p.Lys659=)
c.1101A>G (p.Lys367=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.27936791T>GCA376391860ODAD2c.2187A>C (p.Lys729Asn)
c.1263A>C (p.Lys421Asn)
c.762A>C (p.Lys254Asn)
c.1977A>C (p.Lys659Asn)
c.1101A>C (p.Lys367Asn)
10g.27936792T>ACA376391861ODAD2c.2186A>T (p.Lys729Ile)
c.1262A>T (p.Lys421Ile)
c.761A>T (p.Lys254Ile)
c.1976A>T (p.Lys659Ile)
c.1100A>T (p.Lys367Ile)
10g.27936792T>CCA376391862ODAD2c.2186A>G (p.Lys729Arg)
c.1262A>G (p.Lys421Arg)
c.761A>G (p.Lys254Arg)
c.1976A>G (p.Lys659Arg)
c.1100A>G (p.Lys367Arg)
dbSNP gnomAD v4
10g.27936792T>GCA376391863ODAD2c.2186A>C (p.Lys729Thr)
c.1262A>C (p.Lys421Thr)
c.761A>C (p.Lys254Thr)
c.1976A>C (p.Lys659Thr)
c.1100A>C (p.Lys367Thr)
dbSNP gnomAD v3 gnomAD v4
10g.27936793T>ACA376391865ODAD2c.2185A>T (p.Lys729Ter)
c.1261A>T (p.Lys421Ter)
c.760A>T (p.Lys254Ter)
c.1975A>T (p.Lys659Ter)
c.1099A>T (p.Lys367Ter)
10g.27936793T>CCA204514488ODAD2c.2185A>G (p.Lys729Glu)
c.1261A>G (p.Lys421Glu)
c.760A>G (p.Lys254Glu)
c.1975A>G (p.Lys659Glu)
c.1099A>G (p.Lys367Glu)
dbSNP gnomAD v4
10g.27936793T>GCA376391864ODAD2c.2185A>C (p.Lys729Gln)
c.1261A>C (p.Lys421Gln)
c.760A>C (p.Lys254Gln)
c.1975A>C (p.Lys659Gln)
c.1099A>C (p.Lys367Gln)
10g.27936794A>CCA376391866ODAD2c.2184T>G (p.Asn728Lys)
c.1260T>G (p.Asn420Lys)
c.759T>G (p.Asn253Lys)
c.1974T>G (p.Asn658Lys)
c.1098T>G (p.Asn366Lys)
10g.27936794A>GCA468753342ODAD2c.2184T>C (p.Asn728=)
c.1260T>C (p.Asn420=)
c.759T>C (p.Asn253=)
c.1974T>C (p.Asn658=)
c.1098T>C (p.Asn366=)
10g.27936794A>TCA376391867ODAD2c.2184T>A (p.Asn728Lys)
c.1260T>A (p.Asn420Lys)
c.759T>A (p.Asn253Lys)
c.1974T>A (p.Asn658Lys)
c.1098T>A (p.Asn366Lys)
10g.27936795T>ACA376391868ODAD2c.2183A>T (p.Asn728Ile)
c.1259A>T (p.Asn420Ile)
c.758A>T (p.Asn253Ile)
c.1973A>T (p.Asn658Ile)
c.1097A>T (p.Asn366Ile)
c.*129A>T (n.*129A>T)
10g.27936795T>CCA376391869ODAD2c.2183A>G (p.Asn728Ser)
c.1259A>G (p.Asn420Ser)
c.758A>G (p.Asn253Ser)
c.1973A>G (p.Asn658Ser)
c.1097A>G (p.Asn366Ser)
c.*129A>G (n.*129A>G)
gnomAD v4
10g.27936795T>GCA376391870ODAD2c.2183A>C (p.Asn728Thr)
c.1259A>C (p.Asn420Thr)
c.758A>C (p.Asn253Thr)
c.1973A>C (p.Asn658Thr)
c.1097A>C (p.Asn366Thr)
c.*129A>C (n.*129A>C)
10g.27936796T>ACA376391873ODAD2c.2182A>T (p.Asn728Tyr)
c.1258A>T (p.Asn420Tyr)
c.757A>T (p.Asn253Tyr)
c.1972A>T (p.Asn658Tyr)
c.1096A>T (p.Asn366Tyr)
c.*128A>T (n.*128A>T)
10g.27936796T>CCA376391871ODAD2c.2182A>G (p.Asn728Asp)
c.1258A>G (p.Asn420Asp)
c.757A>G (p.Asn253Asp)
c.1972A>G (p.Asn658Asp)
c.1096A>G (p.Asn366Asp)
c.*128A>G (n.*128A>G)
gnomAD v4
10g.27936796T>GCA376391872ODAD2c.2182A>C (p.Asn728His)
c.1258A>C (p.Asn420His)
c.757A>C (p.Asn253His)
c.1972A>C (p.Asn658His)
c.1096A>C (p.Asn366His)
c.*128A>C (n.*128A>C)
10g.27936797G>ACA468753343ODAD2c.2181C>T (p.Asp727=)
c.1257C>T (p.Asp419=)
c.756C>T (p.Asp252=)
c.1971C>T (p.Asp657=)
c.1095C>T (p.Asp365=)
c.*127C>T (n.*127C>T)
gnomAD v4
10g.27936797G>CCA376391874ODAD2c.2181C>G (p.Asp727Glu)
c.1257C>G (p.Asp419Glu)
c.756C>G (p.Asp252Glu)
c.1971C>G (p.Asp657Glu)
c.1095C>G (p.Asp365Glu)
c.*127C>G (n.*127C>G)
gnomAD v4
10g.27936797G>TCA376391875ODAD2c.2181C>A (p.Asp727Glu)
c.1257C>A (p.Asp419Glu)
c.756C>A (p.Asp252Glu)
c.1971C>A (p.Asp657Glu)
c.1095C>A (p.Asp365Glu)
c.*127C>A (n.*127C>A)
gnomAD v4
10g.27936798T>ACA376391876ODAD2c.2180A>T (p.Asp727Val)
c.1256A>T (p.Asp419Val)
c.755A>T (p.Asp252Val)
c.1970A>T (p.Asp657Val)
c.1094A>T (p.Asp365Val)
c.*126A>T (n.*126A>T)
10g.27936798T>CCA376391877ODAD2c.2180A>G (p.Asp727Gly)
c.1256A>G (p.Asp419Gly)
c.755A>G (p.Asp252Gly)
c.1970A>G (p.Asp657Gly)
c.1094A>G (p.Asp365Gly)
c.*126A>G (n.*126A>G)
10g.27936798T>GCA376391878ODAD2c.2180A>C (p.Asp727Ala)
c.1256A>C (p.Asp419Ala)
c.755A>C (p.Asp252Ala)
c.1970A>C (p.Asp657Ala)
c.1094A>C (p.Asp365Ala)
c.*126A>C (n.*126A>C)
10g.27936799C>ACA376391879ODAD2c.2179G>T (p.Asp727Tyr)
c.1255G>T (p.Asp419Tyr)
c.754G>T (p.Asp252Tyr)
c.1969G>T (p.Asp657Tyr)
c.1093G>T (p.Asp365Tyr)
c.*125G>T (n.*125G>T)
10g.27936799C>GCA376391881ODAD2c.2179G>C (p.Asp727His)
c.1255G>C (p.Asp419His)
c.754G>C (p.Asp252His)
c.1969G>C (p.Asp657His)
c.1093G>C (p.Asp365His)
c.*125G>C (n.*125G>C)
10g.27936799C>TCA376391880ODAD2c.2179G>A (p.Asp727Asn)
c.1255G>A (p.Asp419Asn)
c.754G>A (p.Asp252Asn)
c.1969G>A (p.Asp657Asn)
c.1093G>A (p.Asp365Asn)
c.*125G>A (n.*125G>A)
10g.27936800A>CCA468753346ODAD2c.2178T>G (p.Thr726=)
c.1254T>G (p.Thr418=)
c.753T>G (p.Thr251=)
c.1968T>G (p.Thr656=)
c.1092T>G (p.Thr364=)
c.*124T>G (n.*124T>G)
10g.27936800A>GCA468753345ODAD2c.2178T>C (p.Thr726=)
c.1254T>C (p.Thr418=)
c.753T>C (p.Thr251=)
c.1968T>C (p.Thr656=)
c.1092T>C (p.Thr364=)
c.*124T>C (n.*124T>C)
gnomAD v4
10g.27936800A>TCA468753344ODAD2c.2178T>A (p.Thr726=)
c.1254T>A (p.Thr418=)
c.753T>A (p.Thr251=)
c.1968T>A (p.Thr656=)
c.1092T>A (p.Thr364=)
c.*124T>A (n.*124T>A)
10g.27936801G>ACA376391882ODAD2c.2177C>T (p.Thr726Ile)
c.1253C>T (p.Thr418Ile)
c.752C>T (p.Thr251Ile)
c.1967C>T (p.Thr656Ile)
c.1091C>T (p.Thr364Ile)
c.*123C>T (n.*123C>T)
10g.27936801G>CCA376391883ODAD2c.2177C>G (p.Thr726Ser)
c.1253C>G (p.Thr418Ser)
c.752C>G (p.Thr251Ser)
c.1967C>G (p.Thr656Ser)
c.1091C>G (p.Thr364Ser)
c.*123C>G (n.*123C>G)
10g.27936801G>TCA376391884ODAD2c.2177C>A (p.Thr726Asn)
c.1253C>A (p.Thr418Asn)
c.752C>A (p.Thr251Asn)
c.1967C>A (p.Thr656Asn)
c.1091C>A (p.Thr364Asn)
c.*123C>A (n.*123C>A)
10g.27936803_27936804delCA2608645753ODAD2c.2176_2177del (p.Thr726Ter)
c.1252_1253del (p.Thr418Ter)
c.751_752del (p.Thr251Ter)
c.1966_1967del (p.Thr656Ter)
c.1090_1091del (p.Thr364Ter)
c.*122_*123del (n.*122_*123del)
gnomAD v4
10g.27936802T>ACA376391885ODAD2c.2176A>T (p.Thr726Ser)
c.1252A>T (p.Thr418Ser)
c.751A>T (p.Thr251Ser)
c.1966A>T (p.Thr656Ser)
c.1090A>T (p.Thr364Ser)
c.*122A>T (n.*122A>T)
10g.27936802T>CCA376391886ODAD2c.2176A>G (p.Thr726Ala)
c.1252A>G (p.Thr418Ala)
c.751A>G (p.Thr251Ala)
c.1966A>G (p.Thr656Ala)
c.1090A>G (p.Thr364Ala)
c.*122A>G (n.*122A>G)
10g.27936802T>GCA376391887ODAD2c.2176A>C (p.Thr726Pro)
c.1252A>C (p.Thr418Pro)
c.751A>C (p.Thr251Pro)
c.1966A>C (p.Thr656Pro)
c.1090A>C (p.Thr364Pro)
c.*122A>C (n.*122A>C)
10g.27936803G>ACA468753347ODAD2c.2175C>T (p.Asn725=)
c.1251C>T (p.Asn417=)
c.750C>T (p.Asn250=)
c.1965C>T (p.Asn655=)
c.1089C>T (p.Asn363=)
c.*121C>T (n.*121C>T)
10g.27936803G>CCA376391888ODAD2c.2175C>G (p.Asn725Lys)
c.1251C>G (p.Asn417Lys)
c.750C>G (p.Asn250Lys)
c.1965C>G (p.Asn655Lys)
c.1089C>G (p.Asn363Lys)
c.*121C>G (n.*121C>G)
10g.27936803G>TCA376391889ODAD2c.2175C>A (p.Asn725Lys)
c.1251C>A (p.Asn417Lys)
c.750C>A (p.Asn250Lys)
c.1965C>A (p.Asn655Lys)
c.1089C>A (p.Asn363Lys)
c.*121C>A (n.*121C>A)
10g.27936804T>ACA376391890ODAD2c.2174A>T (p.Asn725Ile)
c.1250A>T (p.Asn417Ile)
c.749A>T (p.Asn250Ile)
c.1964A>T (p.Asn655Ile)
c.1088A>T (p.Asn363Ile)
c.*120A>T (n.*120A>T)
10g.27936804T>CCA376391891ODAD2c.2174A>G (p.Asn725Ser)
c.1250A>G (p.Asn417Ser)
c.749A>G (p.Asn250Ser)
c.1964A>G (p.Asn655Ser)
c.1088A>G (p.Asn363Ser)
c.*120A>G (n.*120A>G)
dbSNP
10g.27936804T>GCA376391892ODAD2c.2174A>C (p.Asn725Thr)
c.1250A>C (p.Asn417Thr)
c.749A>C (p.Asn250Thr)
c.1964A>C (p.Asn655Thr)
c.1088A>C (p.Asn363Thr)
c.*120A>C (n.*120A>C)
gnomAD v4
10g.27936805T>ACA376391893ODAD2c.2173A>T (p.Asn725Tyr)
c.1249A>T (p.Asn417Tyr)
c.748A>T (p.Asn250Tyr)
c.1963A>T (p.Asn655Tyr)
c.1087A>T (p.Asn363Tyr)
c.*119A>T (n.*119A>T)
10g.27936805T>CCA376391894ODAD2c.2173A>G (p.Asn725Asp)
c.1249A>G (p.Asn417Asp)
c.748A>G (p.Asn250Asp)
c.1963A>G (p.Asn655Asp)
c.1087A>G (p.Asn363Asp)
c.*119A>G (n.*119A>G)
gnomAD v4 COSMIC COSMIC
10g.27936805T>GCA376391895ODAD2c.2173A>C (p.Asn725His)
c.1249A>C (p.Asn417His)
c.748A>C (p.Asn250His)
c.1963A>C (p.Asn655His)
c.1087A>C (p.Asn363His)
c.*119A>C (n.*119A>C)
10g.27936806A>CCA376391897ODAD2c.2172T>G (p.Asn724Lys)
c.1248T>G (p.Asn416Lys)
c.747T>G (p.Asn249Lys)
c.1962T>G (p.Asn654Lys)
c.1086T>G (p.Asn362Lys)
c.*118T>G (n.*118T>G)
10g.27936806A>GCA468753348ODAD2c.2172T>C (p.Asn724=)
c.1248T>C (p.Asn416=)
c.747T>C (p.Asn249=)
c.1962T>C (p.Asn654=)
c.1086T>C (p.Asn362=)
c.*118T>C (n.*118T>C)
dbSNP gnomAD v4
10g.27936806A>TCA376391896ODAD2c.2172T>A (p.Asn724Lys)
c.1248T>A (p.Asn416Lys)
c.747T>A (p.Asn249Lys)
c.1962T>A (p.Asn654Lys)
c.1086T>A (p.Asn362Lys)
c.*118T>A (n.*118T>A)
10g.27936807T>ACA376391898ODAD2c.2171A>T (p.Asn724Ile)
c.1247A>T (p.Asn416Ile)
c.746A>T (p.Asn249Ile)
c.1961A>T (p.Asn654Ile)
c.1085A>T (p.Asn362Ile)
c.*117A>T (n.*117A>T)
10g.27936807T>CCA204514493ODAD2c.2171A>G (p.Asn724Ser)
c.1247A>G (p.Asn416Ser)
c.746A>G (p.Asn249Ser)
c.1961A>G (p.Asn654Ser)
c.1085A>G (p.Asn362Ser)
c.*117A>G (n.*117A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.27936807T>GCA376391899ODAD2c.2171A>C (p.Asn724Thr)
c.1247A>C (p.Asn416Thr)
c.746A>C (p.Asn249Thr)
c.1961A>C (p.Asn654Thr)
c.1085A>C (p.Asn362Thr)
c.*117A>C (n.*117A>C)
10g.27936808T>ACA376391900ODAD2c.2170A>T (p.Asn724Tyr)
c.1246A>T (p.Asn416Tyr)
c.745A>T (p.Asn249Tyr)
c.1960A>T (p.Asn654Tyr)
c.1084A>T (p.Asn362Tyr)
c.*116A>T (n.*116A>T)
10g.27936808T>CCA5453284ODAD2c.2170A>G (p.Asn724Asp)
c.1246A>G (p.Asn416Asp)
c.745A>G (p.Asn249Asp)
c.1960A>G (p.Asn654Asp)
c.1084A>G (p.Asn362Asp)
c.*116A>G (n.*116A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936808T>GCA376391901ODAD2c.2170A>C (p.Asn724His)
c.1246A>C (p.Asn416His)
c.745A>C (p.Asn249His)
c.1960A>C (p.Asn654His)
c.1084A>C (p.Asn362His)
c.*116A>C (n.*116A>C)
10g.27936809G>ACA468753349ODAD2c.2169C>T (p.Leu723=)
c.1245C>T (p.Leu415=)
c.744C>T (p.Leu248=)
c.1959C>T (p.Leu653=)
c.1083C>T (p.Leu361=)
c.*115C>T (n.*115C>T)
10g.27936809G>CCA468753350ODAD2c.2169C>G (p.Leu723=)
c.1245C>G (p.Leu415=)
c.744C>G (p.Leu248=)
c.1959C>G (p.Leu653=)
c.1083C>G (p.Leu361=)
c.*115C>G (n.*115C>G)
10g.27936809G>TCA468753351ODAD2c.2169C>A (p.Leu723=)
c.1245C>A (p.Leu415=)
c.744C>A (p.Leu248=)
c.1959C>A (p.Leu653=)
c.1083C>A (p.Leu361=)
c.*115C>A (n.*115C>A)
10g.27936810A>CCA376391902ODAD2c.2168T>G (p.Leu723Arg)
c.1244T>G (p.Leu415Arg)
c.743T>G (p.Leu248Arg)
c.1958T>G (p.Leu653Arg)
c.1082T>G (p.Leu361Arg)
c.*114T>G (n.*114T>G)
10g.27936810A>GCA376391903ODAD2c.2168T>C (p.Leu723Pro)
c.1244T>C (p.Leu415Pro)
c.743T>C (p.Leu248Pro)
c.1958T>C (p.Leu653Pro)
c.1082T>C (p.Leu361Pro)
c.*114T>C (n.*114T>C)
10g.27936810A>TCA376391904ODAD2c.2168T>A (p.Leu723His)
c.1244T>A (p.Leu415His)
c.743T>A (p.Leu248His)
c.1958T>A (p.Leu653His)
c.1082T>A (p.Leu361His)
c.*114T>A (n.*114T>A)
10g.27936811G>ACA376391905ODAD2c.2167C>T (p.Leu723Phe)
c.1243C>T (p.Leu415Phe)
c.742C>T (p.Leu248Phe)
c.1957C>T (p.Leu653Phe)
c.1081C>T (p.Leu361Phe)
c.*113C>T (n.*113C>T)
10g.27936811G>CCA376391906ODAD2c.2167C>G (p.Leu723Val)
c.1243C>G (p.Leu415Val)
c.742C>G (p.Leu248Val)
c.1957C>G (p.Leu653Val)
c.1081C>G (p.Leu361Val)
c.*113C>G (n.*113C>G)
10g.27936811G>TCA376391907ODAD2c.2167C>A (p.Leu723Ile)
c.1243C>A (p.Leu415Ile)
c.742C>A (p.Leu248Ile)
c.1957C>A (p.Leu653Ile)
c.1081C>A (p.Leu361Ile)
c.*113C>A (n.*113C>A)
10g.27936812T>ACA468753352ODAD2c.2166A>T (p.Leu722=)
c.1242A>T (p.Leu414=)
c.741A>T (p.Leu247=)
c.1956A>T (p.Leu652=)
c.1080A>T (p.Leu360=)
c.*112A>T (n.*112A>T)
10g.27936812T>CCA5453285ODAD2c.2166A>G (p.Leu722=)
c.1242A>G (p.Leu414=)
c.741A>G (p.Leu247=)
c.1956A>G (p.Leu652=)
c.1080A>G (p.Leu360=)
c.*112A>G (n.*112A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936812T>GCA468753353ODAD2c.2166A>C (p.Leu722=)
c.1242A>C (p.Leu414=)
c.741A>C (p.Leu247=)
c.1956A>C (p.Leu652=)
c.1080A>C (p.Leu360=)
c.*112A>C (n.*112A>C)
10g.27936813A>CCA376391908ODAD2c.2165T>G (p.Leu722Arg)
c.1241T>G (p.Leu414Arg)
c.740T>G (p.Leu247Arg)
c.1955T>G (p.Leu652Arg)
c.1079T>G (p.Leu360Arg)
c.*111T>G (n.*111T>G)
10g.27936813A>GCA376391910ODAD2c.2165T>C (p.Leu722Pro)
c.1241T>C (p.Leu414Pro)
c.740T>C (p.Leu247Pro)
c.1955T>C (p.Leu652Pro)
c.1079T>C (p.Leu360Pro)
c.*111T>C (n.*111T>C)
dbSNP gnomAD v3 gnomAD v4
10g.27936813A>TCA376391909ODAD2c.2165T>A (p.Leu722Gln)
c.1241T>A (p.Leu414Gln)
c.740T>A (p.Leu247Gln)
c.1955T>A (p.Leu652Gln)
c.1079T>A (p.Leu360Gln)
c.*111T>A (n.*111T>A)
10g.27936814G>ACA468753354ODAD2c.2164C>T (p.Leu722=)
c.1240C>T (p.Leu414=)
c.739C>T (p.Leu247=)
c.1954C>T (p.Leu652=)
c.1078C>T (p.Leu360=)
c.*110C>T (n.*110C>T)
10g.27936814G>CCA204514529ODAD2c.2164C>G (p.Leu722Val)
c.1240C>G (p.Leu414Val)
c.739C>G (p.Leu247Val)
c.1954C>G (p.Leu652Val)
c.1078C>G (p.Leu360Val)
c.*110C>G (n.*110C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.27936814G>TCA376391911ODAD2c.2164C>A (p.Leu722Ile)
c.1240C>A (p.Leu414Ile)
c.739C>A (p.Leu247Ile)
c.1954C>A (p.Leu652Ile)
c.1078C>A (p.Leu360Ile)
c.*110C>A (n.*110C>A)
10g.27936815A>CCA376391912ODAD2c.2163T>G (p.Ser721Arg)
c.1239T>G (p.Ser413Arg)
c.738T>G (p.Ser246Arg)
c.1953T>G (p.Ser651Arg)
c.1077T>G (p.Ser359Arg)
c.*109T>G (n.*109T>G)
10g.27936815A>GCA468753355ODAD2c.2163T>C (p.Ser721=)
c.1239T>C (p.Ser413=)
c.738T>C (p.Ser246=)
c.1953T>C (p.Ser651=)
c.1077T>C (p.Ser359=)
c.*109T>C (n.*109T>C)
gnomAD v4
10g.27936815A>TCA376391913ODAD2c.2163T>A (p.Ser721Arg)
c.1239T>A (p.Ser413Arg)
c.738T>A (p.Ser246Arg)
c.1953T>A (p.Ser651Arg)
c.1077T>A (p.Ser359Arg)
c.*109T>A (n.*109T>A)
10g.27936816delCA5453286ODAD2c.2162del (p.Ser721IlefsTer12)
c.1238del (p.Ser413IlefsTer12)
c.737del (p.Ser246IlefsTer12)
c.1952del (p.Ser651IlefsTer12)
c.1076del (p.Ser359IlefsTer12)
c.*108del (n.*108del)
dbSNP ExAC
10g.27936816C>ACA376391914ODAD2c.2162G>T (p.Ser721Ile)
c.1238G>T (p.Ser413Ile)
c.737G>T (p.Ser246Ile)
c.1952G>T (p.Ser651Ile)
c.1076G>T (p.Ser359Ile)
c.*108G>T (n.*108G>T)
10g.27936816C>GCA376391915ODAD2c.2162G>C (p.Ser721Thr)
c.1238G>C (p.Ser413Thr)
c.737G>C (p.Ser246Thr)
c.1952G>C (p.Ser651Thr)
c.1076G>C (p.Ser359Thr)
c.*108G>C (n.*108G>C)
10g.27936816C>TCA5453287ODAD2c.2162G>A (p.Ser721Asn)
c.1238G>A (p.Ser413Asn)
c.737G>A (p.Ser246Asn)
c.1952G>A (p.Ser651Asn)
c.1076G>A (p.Ser359Asn)
c.*108G>A (n.*108G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936817T>ACA376391916ODAD2c.2161A>T (p.Ser721Cys)
c.1237A>T (p.Ser413Cys)
c.736A>T (p.Ser246Cys)
c.1951A>T (p.Ser651Cys)
c.1075A>T (p.Ser359Cys)
c.*107A>T (n.*107A>T)
10g.27936817T>CCA376391917ODAD2c.2161A>G (p.Ser721Gly)
c.1237A>G (p.Ser413Gly)
c.736A>G (p.Ser246Gly)
c.1951A>G (p.Ser651Gly)
c.1075A>G (p.Ser359Gly)
c.*107A>G (n.*107A>G)
COSMIC COSMIC
10g.27936817T>GCA376391918ODAD2c.2161A>C (p.Ser721Arg)
c.1237A>C (p.Ser413Arg)
c.736A>C (p.Ser246Arg)
c.1951A>C (p.Ser651Arg)
c.1075A>C (p.Ser359Arg)
c.*107A>C (n.*107A>C)
10g.27936818G>ACA468753356ODAD2c.2160C>T (p.Ala720=)
c.1236C>T (p.Ala412=)
c.735C>T (p.Ala245=)
c.1950C>T (p.Ala650=)
c.1074C>T (p.Ala358=)
c.*106C>T (n.*106C>T)
dbSNP gnomAD v2
10g.27936818G>CCA468753357ODAD2c.2160C>G (p.Ala720=)
c.1236C>G (p.Ala412=)
c.735C>G (p.Ala245=)
c.1950C>G (p.Ala650=)
c.1074C>G (p.Ala358=)
c.*106C>G (n.*106C>G)
10g.27936818G>TCA468753358ODAD2c.2160C>A (p.Ala720=)
c.1236C>A (p.Ala412=)
c.735C>A (p.Ala245=)
c.1950C>A (p.Ala650=)
c.1074C>A (p.Ala358=)
c.*106C>A (n.*106C>A)
10g.27936819G>ACA376391921ODAD2c.2159C>T (p.Ala720Val)
c.1235C>T (p.Ala412Val)
c.734C>T (p.Ala245Val)
c.1949C>T (p.Ala650Val)
c.1073C>T (p.Ala358Val)
c.*105C>T (n.*105C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.27936819G>CCA376391920ODAD2c.2159C>G (p.Ala720Gly)
c.1235C>G (p.Ala412Gly)
c.734C>G (p.Ala245Gly)
c.1949C>G (p.Ala650Gly)
c.1073C>G (p.Ala358Gly)
c.*105C>G (n.*105C>G)
10g.27936819G>TCA376391919ODAD2c.2159C>A (p.Ala720Asp)
c.1235C>A (p.Ala412Asp)
c.734C>A (p.Ala245Asp)
c.1949C>A (p.Ala650Asp)
c.1073C>A (p.Ala358Asp)
c.*105C>A (n.*105C>A)
dbSNP
10g.27936820C>ACA376391922ODAD2c.2158G>T (p.Ala720Ser)
c.1234G>T (p.Ala412Ser)
c.733G>T (p.Ala245Ser)
c.1948G>T (p.Ala650Ser)
c.1072G>T (p.Ala358Ser)
c.*104G>T (n.*104G>T)
10g.27936820C>GCA376391923ODAD2c.2158G>C (p.Ala720Pro)
c.1234G>C (p.Ala412Pro)
c.733G>C (p.Ala245Pro)
c.1948G>C (p.Ala650Pro)
c.1072G>C (p.Ala358Pro)
c.*104G>C (n.*104G>C)
10g.27936820C>TCA376391924ODAD2c.2158G>A (p.Ala720Thr)
c.1234G>A (p.Ala412Thr)
c.733G>A (p.Ala245Thr)
c.1948G>A (p.Ala650Thr)
c.1072G>A (p.Ala358Thr)
c.*104G>A (n.*104G>A)
10g.27936821C>ACA376391925ODAD2c.2157G>T (p.Leu719Phe)
c.1233G>T (p.Leu411Phe)
c.732G>T (p.Leu244Phe)
c.1947G>T (p.Leu649Phe)
c.1071G>T (p.Leu357Phe)
c.*103G>T (n.*103G>T)
dbSNP gnomAD v3 gnomAD v4
10g.27936821C>GCA376391926ODAD2c.2157G>C (p.Leu719Phe)
c.1233G>C (p.Leu411Phe)
c.732G>C (p.Leu244Phe)
c.1947G>C (p.Leu649Phe)
c.1071G>C (p.Leu357Phe)
c.*103G>C (n.*103G>C)
10g.27936821C>TCA468753359ODAD2c.2157G>A (p.Leu719=)
c.1233G>A (p.Leu411=)
c.732G>A (p.Leu244=)
c.1947G>A (p.Leu649=)
c.1071G>A (p.Leu357=)
c.*103G>A (n.*103G>A)
10g.27936822A>CCA376391927ODAD2c.2156T>G (p.Leu719Trp)
c.1232T>G (p.Leu411Trp)
c.731T>G (p.Leu244Trp)
c.1946T>G (p.Leu649Trp)
c.1070T>G (p.Leu357Trp)
c.*102T>G (n.*102T>G)
10g.27936822A>GCA376391928ODAD2c.2156T>C (p.Leu719Ser)
c.1232T>C (p.Leu411Ser)
c.731T>C (p.Leu244Ser)
c.1946T>C (p.Leu649Ser)
c.1070T>C (p.Leu357Ser)
c.*102T>C (n.*102T>C)
10g.27936822A>TCA376391929ODAD2c.2156T>A (p.Leu719Ter)
c.1232T>A (p.Leu411Ter)
c.731T>A (p.Leu244Ter)
c.1946T>A (p.Leu649Ter)
c.1070T>A (p.Leu357Ter)
c.*102T>A (n.*102T>A)
10g.27936823A>CCA376391930ODAD2c.2155T>G (p.Leu719Val)
c.1231T>G (p.Leu411Val)
c.730T>G (p.Leu244Val)
c.1945T>G (p.Leu649Val)
c.1069T>G (p.Leu357Val)
c.*101T>G (n.*101T>G)
gnomAD v4 COSMIC COSMIC
10g.27936823A>GCA468753360ODAD2c.2155T>C (p.Leu719=)
c.1231T>C (p.Leu411=)
c.730T>C (p.Leu244=)
c.1945T>C (p.Leu649=)
c.1069T>C (p.Leu357=)
c.*101T>C (n.*101T>C)
gnomAD v4
10g.27936823A>TCA376391931ODAD2c.2155T>A (p.Leu719Met)
c.1231T>A (p.Leu411Met)
c.730T>A (p.Leu244Met)
c.1945T>A (p.Leu649Met)
c.1069T>A (p.Leu357Met)
c.*101T>A (n.*101T>A)
10g.27936824G>ACA468753361ODAD2c.2154C>T (p.Pro718=)
c.1230C>T (p.Pro410=)
c.729C>T (p.Pro243=)
c.1944C>T (p.Pro648=)
c.1068C>T (p.Pro356=)
c.*100C>T (n.*100C>T)
ClinVar gnomAD v4
10g.27936824G>CCA468753362ODAD2c.2154C>G (p.Pro718=)
c.1230C>G (p.Pro410=)
c.729C>G (p.Pro243=)
c.1944C>G (p.Pro648=)
c.1068C>G (p.Pro356=)
c.*100C>G (n.*100C>G)
dbSNP gnomAD v2 gnomAD v4
10g.27936824G>TCA468753363ODAD2c.2154C>A (p.Pro718=)
c.1230C>A (p.Pro410=)
c.729C>A (p.Pro243=)
c.1944C>A (p.Pro648=)
c.1068C>A (p.Pro356=)
c.*100C>A (n.*100C>A)
10g.27936825G>ACA376391932ODAD2c.2153C>T (p.Pro718Leu)
c.1229C>T (p.Pro410Leu)
c.728C>T (p.Pro243Leu)
c.1943C>T (p.Pro648Leu)
c.1067C>T (p.Pro356Leu)
c.*99C>T (n.*99C>T)
dbSNP gnomAD v2 gnomAD v4
10g.27936825G>CCA376391933ODAD2c.2153C>G (p.Pro718Arg)
c.1229C>G (p.Pro410Arg)
c.728C>G (p.Pro243Arg)
c.1943C>G (p.Pro648Arg)
c.1067C>G (p.Pro356Arg)
c.*99C>G (n.*99C>G)
dbSNP gnomAD v4
10g.27936825G>TCA376391934ODAD2c.2153C>A (p.Pro718His)
c.1229C>A (p.Pro410His)
c.728C>A (p.Pro243His)
c.1943C>A (p.Pro648His)
c.1067C>A (p.Pro356His)
c.*99C>A (n.*99C>A)
dbSNP gnomAD v2 gnomAD v4
10g.27936826G>ACA376391936ODAD2c.2152C>T (p.Pro718Ser)
c.1228C>T (p.Pro410Ser)
c.727C>T (p.Pro243Ser)
c.1942C>T (p.Pro648Ser)
c.1066C>T (p.Pro356Ser)
c.*98C>T (n.*98C>T)
10g.27936826G>CCA376391937ODAD2c.2152C>G (p.Pro718Ala)
c.1228C>G (p.Pro410Ala)
c.727C>G (p.Pro243Ala)
c.1942C>G (p.Pro648Ala)
c.1066C>G (p.Pro356Ala)
c.*98C>G (n.*98C>G)
10g.27936826G>TCA376391935ODAD2c.2152C>A (p.Pro718Thr)
c.1228C>A (p.Pro410Thr)
c.727C>A (p.Pro243Thr)
c.1942C>A (p.Pro648Thr)
c.1066C>A (p.Pro356Thr)
c.*98C>A (n.*98C>A)
10g.27936827C>ACA376391939ODAD2c.2151G>T (p.Lys717Asn)
c.1227G>T (p.Lys409Asn)
c.726G>T (p.Lys242Asn)
c.1941G>T (p.Lys647Asn)
c.1065G>T (p.Lys355Asn)
c.*97G>T (n.*97G>T)
10g.27936827C>GCA376391938ODAD2c.2151G>C (p.Lys717Asn)
c.1227G>C (p.Lys409Asn)
c.726G>C (p.Lys242Asn)
c.1941G>C (p.Lys647Asn)
c.1065G>C (p.Lys355Asn)
c.*97G>C (n.*97G>C)
10g.27936827C>TCA5453288ODAD2c.2151G>A (p.Lys717=)
c.1227G>A (p.Lys409=)
c.726G>A (p.Lys242=)
c.1941G>A (p.Lys647=)
c.1065G>A (p.Lys355=)
c.*97G>A (n.*97G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936828T>ACA376391940ODAD2c.2150A>T (p.Lys717Met)
c.1226A>T (p.Lys409Met)
c.725A>T (p.Lys242Met)
c.1940A>T (p.Lys647Met)
c.1064A>T (p.Lys355Met)
c.*96A>T (n.*96A>T)
10g.27936828T>CCA376391942ODAD2c.2150A>G (p.Lys717Arg)
c.1226A>G (p.Lys409Arg)
c.725A>G (p.Lys242Arg)
c.1940A>G (p.Lys647Arg)
c.1064A>G (p.Lys355Arg)
c.*96A>G (n.*96A>G)
10g.27936828T>GCA376391941ODAD2c.2150A>C (p.Lys717Thr)
c.1226A>C (p.Lys409Thr)
c.725A>C (p.Lys242Thr)
c.1940A>C (p.Lys647Thr)
c.1064A>C (p.Lys355Thr)
c.*96A>C (n.*96A>C)
10g.27936829T>ACA376391943ODAD2c.2149A>T (p.Lys717Ter)
c.1225A>T (p.Lys409Ter)
c.724A>T (p.Lys242Ter)
c.1939A>T (p.Lys647Ter)
c.1063A>T (p.Lys355Ter)
c.*95A>T (n.*95A>T)
10g.27936829T>CCA376391945ODAD2c.2149A>G (p.Lys717Glu)
c.1225A>G (p.Lys409Glu)
c.724A>G (p.Lys242Glu)
c.1939A>G (p.Lys647Glu)
c.1063A>G (p.Lys355Glu)
c.*95A>G (n.*95A>G)
10g.27936829T>GCA376391944ODAD2c.2149A>C (p.Lys717Gln)
c.1225A>C (p.Lys409Gln)
c.724A>C (p.Lys242Gln)
c.1939A>C (p.Lys647Gln)
c.1063A>C (p.Lys355Gln)
c.*95A>C (n.*95A>C)
10g.27936830A>CCA468753364ODAD2c.2148T>G (p.Leu716=)
c.1224T>G (p.Leu408=)
c.723T>G (p.Leu241=)
c.1938T>G (p.Leu646=)
c.1062T>G (p.Leu354=)
c.*94T>G (n.*94T>G)
10g.27936830A>GCA468753365ODAD2c.2148T>C (p.Leu716=)
c.1224T>C (p.Leu408=)
c.723T>C (p.Leu241=)
c.1938T>C (p.Leu646=)
c.1062T>C (p.Leu354=)
c.*94T>C (n.*94T>C)
dbSNP gnomAD v3 gnomAD v4
10g.27936830A>TCA468753366ODAD2c.2148T>A (p.Leu716=)
c.1224T>A (p.Leu408=)
c.723T>A (p.Leu241=)
c.1938T>A (p.Leu646=)
c.1062T>A (p.Leu354=)
c.*94T>A (n.*94T>A)
10g.27936831A>CCA5453289ODAD2c.2147T>G (p.Leu716Arg)
c.1223T>G (p.Leu408Arg)
c.722T>G (p.Leu241Arg)
c.1937T>G (p.Leu646Arg)
c.1061T>G (p.Leu354Arg)
c.*93T>G (n.*93T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936831A>GCA376391947ODAD2c.2147T>C (p.Leu716Pro)
c.1223T>C (p.Leu408Pro)
c.722T>C (p.Leu241Pro)
c.1937T>C (p.Leu646Pro)
c.1061T>C (p.Leu354Pro)
c.*93T>C (n.*93T>C)
10g.27936831A>TCA376391946ODAD2c.2147T>A (p.Leu716His)
c.1223T>A (p.Leu408His)
c.722T>A (p.Leu241His)
c.1937T>A (p.Leu646His)
c.1061T>A (p.Leu354His)
c.*93T>A (n.*93T>A)
10g.27936832G>ACA376391948ODAD2c.2146C>T (p.Leu716Phe)
c.1222C>T (p.Leu408Phe)
c.721C>T (p.Leu241Phe)
c.1936C>T (p.Leu646Phe)
c.1060C>T (p.Leu354Phe)
c.*92C>T (n.*92C>T)
10g.27936832G>CCA376391950ODAD2c.2146C>G (p.Leu716Val)
c.1222C>G (p.Leu408Val)
c.721C>G (p.Leu241Val)
c.1936C>G (p.Leu646Val)
c.1060C>G (p.Leu354Val)
c.*92C>G (n.*92C>G)
dbSNP
10g.27936832G>TCA376391949ODAD2c.2146C>A (p.Leu716Ile)
c.1222C>A (p.Leu408Ile)
c.721C>A (p.Leu241Ile)
c.1936C>A (p.Leu646Ile)
c.1060C>A (p.Leu354Ile)
c.*92C>A (n.*92C>A)
10g.27936833T>ACA468753367ODAD2c.2145A>T (p.Gly715=)
c.1221A>T (p.Gly407=)
c.720A>T (p.Gly240=)
c.1935A>T (p.Gly645=)
c.1059A>T (p.Gly353=)
c.*91A>T (n.*91A>T)
dbSNP
10g.27936833T>CCA468753368ODAD2c.2145A>G (p.Gly715=)
c.1221A>G (p.Gly407=)
c.720A>G (p.Gly240=)
c.1935A>G (p.Gly645=)
c.1059A>G (p.Gly353=)
c.*91A>G (n.*91A>G)
10g.27936833T>GCA468753369ODAD2c.2145A>C (p.Gly715=)
c.1221A>C (p.Gly407=)
c.720A>C (p.Gly240=)
c.1935A>C (p.Gly645=)
c.1059A>C (p.Gly353=)
c.*91A>C (n.*91A>C)
10g.27936834C>ACA376391951ODAD2c.2144G>T (p.Gly715Val)
c.1220G>T (p.Gly407Val)
c.719G>T (p.Gly240Val)
c.1934G>T (p.Gly645Val)
c.1058G>T (p.Gly353Val)
c.*90G>T (n.*90G>T)
dbSNP gnomAD v3 gnomAD v4
10g.27936834C>GCA376391953ODAD2c.2144G>C (p.Gly715Ala)
c.1220G>C (p.Gly407Ala)
c.719G>C (p.Gly240Ala)
c.1934G>C (p.Gly645Ala)
c.1058G>C (p.Gly353Ala)
c.*90G>C (n.*90G>C)
10g.27936834C>TCA376391952ODAD2c.2144G>A (p.Gly715Glu)
c.1220G>A (p.Gly407Glu)
c.719G>A (p.Gly240Glu)
c.1934G>A (p.Gly645Glu)
c.1058G>A (p.Gly353Glu)
c.*90G>A (n.*90G>A)
10g.27936835C>ACA376391954ODAD2c.2143G>T (p.Gly715Ter)
c.1219G>T (p.Gly407Ter)
c.718G>T (p.Gly240Ter)
c.1933G>T (p.Gly645Ter)
c.1057G>T (p.Gly353Ter)
c.*89G>T (n.*89G>T)
10g.27936835C>GCA376391955ODAD2c.2143G>C (p.Gly715Arg)
c.1219G>C (p.Gly407Arg)
c.718G>C (p.Gly240Arg)
c.1933G>C (p.Gly645Arg)
c.1057G>C (p.Gly353Arg)
c.*89G>C (n.*89G>C)
10g.27936835C>TCA376391956ODAD2c.2143G>A (p.Gly715Arg)
c.1219G>A (p.Gly407Arg)
c.718G>A (p.Gly240Arg)
c.1933G>A (p.Gly645Arg)
c.1057G>A (p.Gly353Arg)
c.*89G>A (n.*89G>A)
10g.27936836T>ACA468753370ODAD2c.2142A>T (p.Gly714=)
c.1218A>T (p.Gly406=)
c.717A>T (p.Gly239=)
c.1932A>T (p.Gly644=)
c.1056A>T (p.Gly352=)
c.*88A>T (n.*88A>T)
10g.27936836T>CCA468753371ODAD2c.2142A>G (p.Gly714=)
c.1218A>G (p.Gly406=)
c.717A>G (p.Gly239=)
c.1932A>G (p.Gly644=)
c.1056A>G (p.Gly352=)
c.*88A>G (n.*88A>G)
10g.27936836T>GCA468753372ODAD2c.2142A>C (p.Gly714=)
c.1218A>C (p.Gly406=)
c.717A>C (p.Gly239=)
c.1932A>C (p.Gly644=)
c.1056A>C (p.Gly352=)
c.*88A>C (n.*88A>C)
10g.27936837C>ACA376391957ODAD2c.2141G>T (p.Gly714Val)
c.1217G>T (p.Gly406Val)
c.716G>T (p.Gly239Val)
c.1931G>T (p.Gly644Val)
c.1055G>T (p.Gly352Val)
c.*87G>T (n.*87G>T)
10g.27936837C>GCA5453290ODAD2c.2141G>C (p.Gly714Ala)
c.1217G>C (p.Gly406Ala)
c.716G>C (p.Gly239Ala)
c.1931G>C (p.Gly644Ala)
c.1055G>C (p.Gly352Ala)
c.*87G>C (n.*87G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936837C>TCA376391958ODAD2c.2141G>A (p.Gly714Glu)
c.1217G>A (p.Gly406Glu)
c.716G>A (p.Gly239Glu)
c.1931G>A (p.Gly644Glu)
c.1055G>A (p.Gly352Glu)
c.*87G>A (n.*87G>A)
10g.27936838C>ACA376391960ODAD2c.2140G>T (p.Gly714Ter)
c.1216G>T (p.Gly406Ter)
c.715G>T (p.Gly239Ter)
c.1930G>T (p.Gly644Ter)
c.1054G>T (p.Gly352Ter)
c.*86G>T (n.*86G>T)
10g.27936838C>GCA376391959ODAD2c.2140G>C (p.Gly714Arg)
c.1216G>C (p.Gly406Arg)
c.715G>C (p.Gly239Arg)
c.1930G>C (p.Gly644Arg)
c.1054G>C (p.Gly352Arg)
c.*86G>C (n.*86G>C)
gnomAD v4
10g.27936838C>TCA204514559ODAD2c.2140G>A (p.Gly714Arg)
c.1216G>A (p.Gly406Arg)
c.715G>A (p.Gly239Arg)
c.1930G>A (p.Gly644Arg)
c.1054G>A (p.Gly352Arg)
c.*86G>A (n.*86G>A)
dbSNP gnomAD v4
10g.27936839delCA663432835ODAD2c.2139del (p.His713GlnfsTer20)
c.1215del (p.His405GlnfsTer20)
c.714del (p.His238GlnfsTer20)
c.1929del (p.His643GlnfsTer20)
c.1053del (p.His351GlnfsTer20)
c.*85del (n.*85del)
dbSNP
10g.27936839G>ACA5453291ODAD2c.2139C>T (p.His713=)
c.1215C>T (p.His405=)
c.714C>T (p.His238=)
c.1929C>T (p.His643=)
c.1053C>T (p.His351=)
c.*85C>T (n.*85C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936839G>CCA376391961ODAD2c.2139C>G (p.His713Gln)
c.1215C>G (p.His405Gln)
c.714C>G (p.His238Gln)
c.1929C>G (p.His643Gln)
c.1053C>G (p.His351Gln)
c.*85C>G (n.*85C>G)
10g.27936839G>TCA376391962ODAD2c.2139C>A (p.His713Gln)
c.1215C>A (p.His405Gln)
c.714C>A (p.His238Gln)
c.1929C>A (p.His643Gln)
c.1053C>A (p.His351Gln)
c.*85C>A (n.*85C>A)
10g.27936840T>ACA376391963ODAD2c.2138A>T (p.His713Leu)
c.1214A>T (p.His405Leu)
c.713A>T (p.His238Leu)
c.1928A>T (p.His643Leu)
c.1052A>T (p.His351Leu)
c.*84A>T (n.*84A>T)
10g.27936840T>CCA376391964ODAD2c.2138A>G (p.His713Arg)
c.1214A>G (p.His405Arg)
c.713A>G (p.His238Arg)
c.1928A>G (p.His643Arg)
c.1052A>G (p.His351Arg)
c.*84A>G (n.*84A>G)
dbSNP gnomAD v4
10g.27936840T>GCA376391965ODAD2c.2138A>C (p.His713Pro)
c.1214A>C (p.His405Pro)
c.713A>C (p.His238Pro)
c.1928A>C (p.His643Pro)
c.1052A>C (p.His351Pro)
c.*84A>C (n.*84A>C)
10g.27936841G>ACA376391968ODAD2c.2137C>T (p.His713Tyr)
c.1213C>T (p.His405Tyr)
c.712C>T (p.His238Tyr)
c.1927C>T (p.His643Tyr)
c.1051C>T (p.His351Tyr)
c.*83C>T (n.*83C>T)
10g.27936841G>CCA376391966ODAD2c.2137C>G (p.His713Asp)
c.1213C>G (p.His405Asp)
c.712C>G (p.His238Asp)
c.1927C>G (p.His643Asp)
c.1051C>G (p.His351Asp)
c.*83C>G (n.*83C>G)
10g.27936841G>TCA376391967ODAD2c.2137C>A (p.His713Asn)
c.1213C>A (p.His405Asn)
c.712C>A (p.His238Asn)
c.1927C>A (p.His643Asn)
c.1051C>A (p.His351Asn)
c.*83C>A (n.*83C>A)
10g.27936842C>ACA468753375ODAD2c.2136G>T (p.Leu712=)
c.1212G>T (p.Leu404=)
c.711G>T (p.Leu237=)
c.1926G>T (p.Leu642=)
c.1050G>T (p.Leu350=)
c.*82G>T (n.*82G>T)
10g.27936842C>GCA468753374ODAD2c.2136G>C (p.Leu712=)
c.1212G>C (p.Leu404=)
c.711G>C (p.Leu237=)
c.1926G>C (p.Leu642=)
c.1050G>C (p.Leu350=)
c.*82G>C (n.*82G>C)
10g.27936842C>TCA468753373ODAD2c.2136G>A (p.Leu712=)
c.1212G>A (p.Leu404=)
c.711G>A (p.Leu237=)
c.1926G>A (p.Leu642=)
c.1050G>A (p.Leu350=)
c.*82G>A (n.*82G>A)
gnomAD v4
10g.27936843A>CCA376391969ODAD2c.2135T>G (p.Leu712Arg)
c.1211T>G (p.Leu404Arg)
c.710T>G (p.Leu237Arg)
c.1925T>G (p.Leu642Arg)
c.1049T>G (p.Leu350Arg)
c.*81T>G (n.*81T>G)
10g.27936843A>GCA376391970ODAD2c.2135T>C (p.Leu712Pro)
c.1211T>C (p.Leu404Pro)
c.710T>C (p.Leu237Pro)
c.1925T>C (p.Leu642Pro)
c.1049T>C (p.Leu350Pro)
c.*81T>C (n.*81T>C)
10g.27936843A>TCA204514577ODAD2c.2135T>A (p.Leu712Gln)
c.1211T>A (p.Leu404Gln)
c.710T>A (p.Leu237Gln)
c.1925T>A (p.Leu642Gln)
c.1049T>A (p.Leu350Gln)
c.*81T>A (n.*81T>A)
dbSNP gnomAD v3 gnomAD v4
10g.27936844G>ACA468753376ODAD2c.2134C>T (p.Leu712=)
c.1210C>T (p.Leu404=)
c.709C>T (p.Leu237=)
c.1924C>T (p.Leu642=)
c.1048C>T (p.Leu350=)
c.*80C>T (n.*80C>T)
10g.27936844G>CCA376391971ODAD2c.2134C>G (p.Leu712Val)
c.1210C>G (p.Leu404Val)
c.709C>G (p.Leu237Val)
c.1924C>G (p.Leu642Val)
c.1048C>G (p.Leu350Val)
c.*80C>G (n.*80C>G)
10g.27936844G>TCA376391972ODAD2c.2134C>A (p.Leu712Met)
c.1210C>A (p.Leu404Met)
c.709C>A (p.Leu237Met)
c.1924C>A (p.Leu642Met)
c.1048C>A (p.Leu350Met)
c.*80C>A (n.*80C>A)
10g.27936845C>ACA376391973ODAD2c.2133G>T (p.Arg711Ser)
c.1209G>T (p.Arg403Ser)
c.708G>T (p.Arg236Ser)
c.1923G>T (p.Arg641Ser)
c.1047G>T (p.Arg349Ser)
c.*79G>T (n.*79G>T)
dbSNP gnomAD v2 gnomAD v4
10g.27936845C>GCA376391974ODAD2c.2133G>C (p.Arg711Ser)
c.1209G>C (p.Arg403Ser)
c.708G>C (p.Arg236Ser)
c.1923G>C (p.Arg641Ser)
c.1047G>C (p.Arg349Ser)
c.*79G>C (n.*79G>C)
10g.27936845C>TCA5453292ODAD2c.2133G>A (p.Arg711=)
c.1209G>A (p.Arg403=)
c.708G>A (p.Arg236=)
c.1923G>A (p.Arg641=)
c.1047G>A (p.Arg349=)
c.*79G>A (n.*79G>A)
dbSNP ExAC gnomAD v2
10g.27936846C>ACA376391975ODAD2c.2132G>T (p.Arg711Met)
c.1208G>T (p.Arg403Met)
c.707G>T (p.Arg236Met)
c.1922G>T (p.Arg641Met)
c.1046G>T (p.Arg349Met)
c.*78G>T (n.*78G>T)
10g.27936846C>GCA376391976ODAD2c.2132G>C (p.Arg711Thr)
c.1208G>C (p.Arg403Thr)
c.707G>C (p.Arg236Thr)
c.1922G>C (p.Arg641Thr)
c.1046G>C (p.Arg349Thr)
c.*78G>C (n.*78G>C)
10g.27936846C>TCA376391977ODAD2c.2132G>A (p.Arg711Lys)
c.1208G>A (p.Arg403Lys)
c.707G>A (p.Arg236Lys)
c.1922G>A (p.Arg641Lys)
c.1046G>A (p.Arg349Lys)
c.*78G>A (n.*78G>A)
10g.27936847T>ACA376391978ODAD2c.2131A>T (p.Arg711Trp)
c.1207A>T (p.Arg403Trp)
c.706A>T (p.Arg236Trp)
c.1921A>T (p.Arg641Trp)
c.1045A>T (p.Arg349Trp)
c.*77A>T (n.*77A>T)
10g.27936847T>CCA376391979ODAD2c.2131A>G (p.Arg711Gly)
c.1207A>G (p.Arg403Gly)
c.706A>G (p.Arg236Gly)
c.1921A>G (p.Arg641Gly)
c.1045A>G (p.Arg349Gly)
c.*77A>G (n.*77A>G)
10g.27936847T>GCA468753377ODAD2c.2131A>C (p.Arg711=)
c.1207A>C (p.Arg403=)
c.706A>C (p.Arg236=)
c.1921A>C (p.Arg641=)
c.1045A>C (p.Arg349=)
c.*77A>C (n.*77A>C)
10g.27936848A>CCA468753378ODAD2c.2130T>G (p.Val710=)
c.1206T>G (p.Val402=)
c.705T>G (p.Val235=)
c.1920T>G (p.Val640=)
c.1044T>G (p.Val348=)
c.*76T>G (n.*76T>G)
ClinVar
10g.27936848A>GCA468753380ODAD2c.2130T>C (p.Val710=)
c.1206T>C (p.Val402=)
c.705T>C (p.Val235=)
c.1920T>C (p.Val640=)
c.1044T>C (p.Val348=)
c.*76T>C (n.*76T>C)
10g.27936848A>TCA468753379ODAD2c.2130T>A (p.Val710=)
c.1206T>A (p.Val402=)
c.705T>A (p.Val235=)
c.1920T>A (p.Val640=)
c.1044T>A (p.Val348=)
c.*76T>A (n.*76T>A)
10g.27936849A>CCA376391980ODAD2c.2129T>G (p.Val710Gly)
c.1205T>G (p.Val402Gly)
c.704T>G (p.Val235Gly)
c.1919T>G (p.Val640Gly)
c.1043T>G (p.Val348Gly)
c.*75T>G (n.*75T>G)
10g.27936849A>GCA376391982ODAD2c.2129T>C (p.Val710Ala)
c.1205T>C (p.Val402Ala)
c.704T>C (p.Val235Ala)
c.1919T>C (p.Val640Ala)
c.1043T>C (p.Val348Ala)
c.*75T>C (n.*75T>C)
10g.27936849A>TCA376391981ODAD2c.2129T>A (p.Val710Asp)
c.1205T>A (p.Val402Asp)
c.704T>A (p.Val235Asp)
c.1919T>A (p.Val640Asp)
c.1043T>A (p.Val348Asp)
c.*75T>A (n.*75T>A)
10g.27936850C>ACA376391983ODAD2c.2128G>T (p.Val710Phe)
c.1204G>T (p.Val402Phe)
c.703G>T (p.Val235Phe)
c.1918G>T (p.Val640Phe)
c.1042G>T (p.Val348Phe)
c.*74G>T (n.*74G>T)
gnomAD v4
10g.27936850C>GCA376391984ODAD2c.2128G>C (p.Val710Leu)
c.1204G>C (p.Val402Leu)
c.703G>C (p.Val235Leu)
c.1918G>C (p.Val640Leu)
c.1042G>C (p.Val348Leu)
c.*74G>C (n.*74G>C)
dbSNP gnomAD v4
10g.27936850C>TCA5453293ODAD2c.2128G>A (p.Val710Ile)
c.1204G>A (p.Val402Ile)
c.703G>A (p.Val235Ile)
c.1918G>A (p.Val640Ile)
c.1042G>A (p.Val348Ile)
c.*74G>A (n.*74G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936851G>ACA5453294ODAD2c.2127C>T (p.Leu709=)
c.1203C>T (p.Leu401=)
c.702C>T (p.Leu234=)
c.1917C>T (p.Leu639=)
c.1041C>T (p.Leu347=)
c.*73C>T (n.*73C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936851G>CCA468753382ODAD2c.2127C>G (p.Leu709=)
c.1203C>G (p.Leu401=)
c.702C>G (p.Leu234=)
c.1917C>G (p.Leu639=)
c.1041C>G (p.Leu347=)
c.*73C>G (n.*73C>G)
10g.27936851G=CA2580923828ODAD2c.2127C= (p.Leu709=)
c.1203C= (p.Leu401=)
c.702C= (p.Leu234=)
c.1917C= (p.Leu639=)
c.1041C= (p.Leu347=)
c.*73C= (n.*73C=)
10g.27936851G>TCA468753381ODAD2c.2127C>A (p.Leu709=)
c.1203C>A (p.Leu401=)
c.702C>A (p.Leu234=)
c.1917C>A (p.Leu639=)
c.1041C>A (p.Leu347=)
c.*73C>A (n.*73C>A)
10g.27936852A>CCA376391985ODAD2c.2126T>G (p.Leu709Arg)
c.1202T>G (p.Leu401Arg)
c.701T>G (p.Leu234Arg)
c.1916T>G (p.Leu639Arg)
c.1040T>G (p.Leu347Arg)
c.*72T>G (n.*72T>G)
10g.27936852A>GCA376391986ODAD2c.2126T>C (p.Leu709Pro)
c.1202T>C (p.Leu401Pro)
c.701T>C (p.Leu234Pro)
c.1916T>C (p.Leu639Pro)
c.1040T>C (p.Leu347Pro)
c.*72T>C (n.*72T>C)
10g.27936852A>TCA376391987ODAD2c.2126T>A (p.Leu709His)
c.1202T>A (p.Leu401His)
c.701T>A (p.Leu234His)
c.1916T>A (p.Leu639His)
c.1040T>A (p.Leu347His)
c.*72T>A (n.*72T>A)
10g.27936853G>ACA376391988ODAD2c.2125C>T (p.Leu709Phe)
c.1201C>T (p.Leu401Phe)
c.700C>T (p.Leu234Phe)
c.1915C>T (p.Leu639Phe)
c.1039C>T (p.Leu347Phe)
c.*71C>T (n.*71C>T)
ClinVar dbSNP
10g.27936853G>CCA376391989ODAD2c.2125C>G (p.Leu709Val)
c.1201C>G (p.Leu401Val)
c.700C>G (p.Leu234Val)
c.1915C>G (p.Leu639Val)
c.1039C>G (p.Leu347Val)
c.*71C>G (n.*71C>G)
ClinVar dbSNP
10g.27936853G>TCA376391990ODAD2c.2125C>A (p.Leu709Ile)
c.1201C>A (p.Leu401Ile)
c.700C>A (p.Leu234Ile)
c.1915C>A (p.Leu639Ile)
c.1039C>A (p.Leu347Ile)
c.*71C>A (n.*71C>A)
COSMIC
10g.27936854G>ACA204514587ODAD2c.2124C>T (p.Asp708=)
c.1200C>T (p.Asp400=)
c.699C>T (p.Asp233=)
c.1914C>T (p.Asp638=)
c.1038C>T (p.Asp346=)
c.*70C>T (n.*70C>T)
dbSNP gnomAD v2 gnomAD v4
10g.27936854G>CCA376391991ODAD2c.2124C>G (p.Asp708Glu)
c.1200C>G (p.Asp400Glu)
c.699C>G (p.Asp233Glu)
c.1914C>G (p.Asp638Glu)
c.1038C>G (p.Asp346Glu)
c.*70C>G (n.*70C>G)
10g.27936854G>TCA376391992ODAD2c.2124C>A (p.Asp708Glu)
c.1200C>A (p.Asp400Glu)
c.699C>A (p.Asp233Glu)
c.1914C>A (p.Asp638Glu)
c.1038C>A (p.Asp346Glu)
c.*70C>A (n.*70C>A)
10g.27936855T>ACA376391995ODAD2c.2123A>T (p.Asp708Val)
c.1199A>T (p.Asp400Val)
c.698A>T (p.Asp233Val)
c.1913A>T (p.Asp638Val)
c.1037A>T (p.Asp346Val)
c.*69A>T (n.*69A>T)
10g.27936855T>CCA376391993ODAD2c.2123A>G (p.Asp708Gly)
c.1199A>G (p.Asp400Gly)
c.698A>G (p.Asp233Gly)
c.1913A>G (p.Asp638Gly)
c.1037A>G (p.Asp346Gly)
c.*69A>G (n.*69A>G)
dbSNP
10g.27936855T>GCA376391994ODAD2c.2123A>C (p.Asp708Ala)
c.1199A>C (p.Asp400Ala)
c.698A>C (p.Asp233Ala)
c.1913A>C (p.Asp638Ala)
c.1037A>C (p.Asp346Ala)
c.*69A>C (n.*69A>C)
10g.27936856C>ACA376391996ODAD2c.2122G>T (p.Asp708Tyr)
c.1198G>T (p.Asp400Tyr)
c.697G>T (p.Asp233Tyr)
c.1912G>T (p.Asp638Tyr)
c.1036G>T (p.Asp346Tyr)
c.*68G>T (n.*68G>T)
COSMIC COSMIC
10g.27936856C>GCA376391997ODAD2c.2122G>C (p.Asp708His)
c.1198G>C (p.Asp400His)
c.697G>C (p.Asp233His)
c.1912G>C (p.Asp638His)
c.1036G>C (p.Asp346His)
c.*68G>C (n.*68G>C)
10g.27936856C>TCA376391998ODAD2c.2122G>A (p.Asp708Asn)
c.1198G>A (p.Asp400Asn)
c.697G>A (p.Asp233Asn)
c.1912G>A (p.Asp638Asn)
c.1036G>A (p.Asp346Asn)
c.*68G>A (n.*68G>A)
10g.27936857C>ACA468753383ODAD2c.2121G>T (p.Arg707=)
c.1197G>T (p.Arg399=)
c.696G>T (p.Arg232=)
c.1911G>T (p.Arg637=)
c.1035G>T (p.Arg345=)
c.*67G>T (n.*67G>T)
10g.27936857C>GCA468753384ODAD2c.2121G>C (p.Arg707=)
c.1197G>C (p.Arg399=)
c.696G>C (p.Arg232=)
c.1911G>C (p.Arg637=)
c.1035G>C (p.Arg345=)
c.*67G>C (n.*67G>C)
10g.27936857C>TCA468753385ODAD2c.2121G>A (p.Arg707=)
c.1197G>A (p.Arg399=)
c.696G>A (p.Arg232=)
c.1911G>A (p.Arg637=)
c.1035G>A (p.Arg345=)
c.*67G>A (n.*67G>A)
dbSNP
10g.27936858C>ACA376391999ODAD2c.2120G>T (p.Arg707Leu)
c.1196G>T (p.Arg399Leu)
c.695G>T (p.Arg232Leu)
c.1910G>T (p.Arg637Leu)
c.1034G>T (p.Arg345Leu)
c.*66G>T (n.*66G>T)
10g.27936858C>GCA376392000ODAD2c.2120G>C (p.Arg707Pro)
c.1196G>C (p.Arg399Pro)
c.695G>C (p.Arg232Pro)
c.1910G>C (p.Arg637Pro)
c.1034G>C (p.Arg345Pro)
c.*66G>C (n.*66G>C)
10g.27936858C>TCA5453295ODAD2c.2120G>A (p.Arg707Gln)
c.1196G>A (p.Arg399Gln)
c.695G>A (p.Arg232Gln)
c.1910G>A (p.Arg637Gln)
c.1034G>A (p.Arg345Gln)
c.*66G>A (n.*66G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936859G>ACA5453296ODAD2c.2119C>T (p.Arg707Trp)
c.1195C>T (p.Arg399Trp)
c.694C>T (p.Arg232Trp)
c.1909C>T (p.Arg637Trp)
c.1033C>T (p.Arg345Trp)
c.*65C>T (n.*65C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.27936859G>CCA376392001ODAD2c.2119C>G (p.Arg707Gly)
c.1195C>G (p.Arg399Gly)
c.694C>G (p.Arg232Gly)
c.1909C>G (p.Arg637Gly)
c.1033C>G (p.Arg345Gly)
c.*65C>G (n.*65C>G)
gnomAD v4
10g.27936859G>TCA468753386ODAD2c.2119C>A (p.Arg707=)
c.1195C>A (p.Arg399=)
c.694C>A (p.Arg232=)
c.1909C>A (p.Arg637=)
c.1033C>A (p.Arg345=)
c.*65C>A (n.*65C>A)
10g.27936860G>ACA468753388ODAD2c.2118C>T (p.Thr706=)
c.1194C>T (p.Thr398=)
c.693C>T (p.Thr231=)
c.1908C>T (p.Thr636=)
c.1032C>T (p.Thr344=)
c.*64C>T (n.*64C>T)
10g.27936860G>CCA468753389ODAD2c.2118C>G (p.Thr706=)
c.1194C>G (p.Thr398=)
c.693C>G (p.Thr231=)
c.1908C>G (p.Thr636=)
c.1032C>G (p.Thr344=)
c.*64C>G (n.*64C>G)
10g.27936860G>TCA468753387ODAD2c.2118C>A (p.Thr706=)
c.1194C>A (p.Thr398=)
c.693C>A (p.Thr231=)
c.1908C>A (p.Thr636=)
c.1032C>A (p.Thr344=)
c.*64C>A (n.*64C>A)
10g.27936861G>ACA376392002ODAD2c.2117C>T (p.Thr706Ile)
c.1193C>T (p.Thr398Ile)
c.692C>T (p.Thr231Ile)
c.1907C>T (p.Thr636Ile)
c.1031C>T (p.Thr344Ile)
c.*63C>T (n.*63C>T)
10g.27936861G>CCA376392003ODAD2c.2117C>G (p.Thr706Ser)
c.1193C>G (p.Thr398Ser)
c.692C>G (p.Thr231Ser)
c.1907C>G (p.Thr636Ser)
c.1031C>G (p.Thr344Ser)
c.*63C>G (n.*63C>G)
dbSNP
10g.27936861G>TCA376392004ODAD2c.2117C>A (p.Thr706Asn)
c.1193C>A (p.Thr398Asn)
c.692C>A (p.Thr231Asn)
c.1907C>A (p.Thr636Asn)
c.1031C>A (p.Thr344Asn)
c.*63C>A (n.*63C>A)
gnomAD v4
10g.27936862T>ACA376392005ODAD2c.2116A>T (p.Thr706Ser)
c.1192A>T (p.Thr398Ser)
c.691A>T (p.Thr231Ser)
c.1906A>T (p.Thr636Ser)
c.1030A>T (p.Thr344Ser)
c.*62A>T (n.*62A>T)
10g.27936862T>CCA376392007ODAD2c.2116A>G (p.Thr706Ala)
c.1192A>G (p.Thr398Ala)
c.691A>G (p.Thr231Ala)
c.1906A>G (p.Thr636Ala)
c.1030A>G (p.Thr344Ala)
c.*62A>G (n.*62A>G)
10g.27936862T>GCA376392006ODAD2c.2116A>C (p.Thr706Pro)
c.1192A>C (p.Thr398Pro)
c.691A>C (p.Thr231Pro)
c.1906A>C (p.Thr636Pro)
c.1030A>C (p.Thr344Pro)
c.*62A>C (n.*62A>C)
10g.27936863T>ACA376392008ODAD2c.2115A>T (p.Glu705Asp)
c.1191A>T (p.Glu397Asp)
c.690A>T (p.Glu230Asp)
c.1905A>T (p.Glu635Asp)
c.1029A>T (p.Glu343Asp)
c.*61A>T (n.*61A>T)
10g.27936863T>CCA468753390ODAD2c.2115A>G (p.Glu705=)
c.1191A>G (p.Glu397=)
c.690A>G (p.Glu230=)
c.1905A>G (p.Glu635=)
c.1029A>G (p.Glu343=)
c.*61A>G (n.*61A>G)
ClinVar
10g.27936863T>GCA376392009ODAD2c.2115A>C (p.Glu705Asp)
c.1191A>C (p.Glu397Asp)
c.690A>C (p.Glu230Asp)
c.1905A>C (p.Glu635Asp)
c.1029A>C (p.Glu343Asp)
c.*61A>C (n.*61A>C)
COSMIC COSMIC
10g.27936864T>ACA376392010ODAD2c.2114A>T (p.Glu705Val)
c.1190A>T (p.Glu397Val)
c.689A>T (p.Glu230Val)
c.1904A>T (p.Glu635Val)
c.1028A>T (p.Glu343Val)
c.*60A>T (n.*60A>T)
10g.27936864T>CCA376392011ODAD2c.2114A>G (p.Glu705Gly)
c.1190A>G (p.Glu397Gly)
c.689A>G (p.Glu230Gly)
c.1904A>G (p.Glu635Gly)
c.1028A>G (p.Glu343Gly)
c.*60A>G (n.*60A>G)
10g.27936864T>GCA376392012ODAD2c.2114A>C (p.Glu705Ala)
c.1190A>C (p.Glu397Ala)
c.689A>C (p.Glu230Ala)
c.1904A>C (p.Glu635Ala)
c.1028A>C (p.Glu343Ala)
c.*60A>C (n.*60A>C)

Number of alleles fetched