Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91272568_91272569delCA2626127058CCDC88Cc.*57_*58del (n.*57_*58del)
c.2372_2373del
 gnomAD v4
14g.91272568T>GCA2575602862CCDC88Cc.*57A>C (n.*57A>C)
c.2372A>C
 gnomAD v4
14g.91272568dupCA2626127061CCDC88Cc.*57dup (n.*57dup)
c.2372dup
 gnomAD v4
14g.91272569G>ACA265516821CCDC88Cc.*56C>T (n.*56C>T)
c.2371C>T
 dbSNP gnomAD v3 gnomAD v4
14g.91272569G=CA2154899850CCDC88Cc.*56C= (n.*56C=)
c.2371C=
14g.91272569G>TCA2575602863CCDC88Cc.*56C>A (n.*56C>A)
c.2371C>A
 gnomAD v4
14g.91272572_91272573delCA2626127062CCDC88Cc.*55_*56del (n.*55_*56del)
c.2370_2371del
 gnomAD v4
14g.91272571G>TCA2515787837CCDC88Cc.*54C>A (n.*54C>A)
c.2369C>A
 gnomAD v4
14g.91272573G>ACA709860012CCDC88Cc.*52C>T (n.*52C>T)
c.2367C>T
 dbSNP
14g.91272573G=CA2154899851CCDC88Cc.*52C= (n.*52C=)
c.2367C=
14g.91272573G>TCA2575602864CCDC88Cc.*52C>A (n.*52C>A)
c.2367C>A
 gnomAD v4
14g.91272574T>ACA2626127068CCDC88Cc.*51A>T (n.*51A>T)
c.2366A>T
 gnomAD v4
14g.91272574T>CCA2626127069CCDC88Cc.*51A>G (n.*51A>G)
c.2366A>G
 gnomAD v4
14g.91272575C>ACA2626127070CCDC88Cc.*50G>T (n.*50G>T)
c.2365G>T
 gnomAD v4
14g.91272575C=CA2154899852CCDC88Cc.*50G= (n.*50G=)
c.2365G=
14g.91272575C>TCA7308487CCDC88Cc.*50G>A (n.*50G>A)
c.2365G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272576G>ACA7308488CCDC88Cc.*49C>T (n.*49C>T)
c.2364C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272576G=CA2154899853CCDC88Cc.*49C= (n.*49C=)
c.2364C=
14g.91272576G>TCA2802580912CCDC88Cc.*49C>A (n.*49C>A)
c.2364C>A
14g.91272577G>CCA2626127071CCDC88Cc.*48C>G (n.*48C>G)
c.2363C>G
 gnomAD v4
14g.91272578A=CA2154899855CCDC88Cc.*47T= (n.*47T=)
c.2362T=
14g.91272578A>CCA7308489CCDC88Cc.*47T>G (n.*47T>G)
c.2362T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272579A>CCA2626127072CCDC88Cc.*46T>G (n.*46T>G)
c.2361T>G
 gnomAD v4
14g.91272580G>ACA616112280CCDC88Cc.*45C>T (n.*45C>T)
c.2360C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272580G=CA2154899856CCDC88Cc.*45C= (n.*45C=)
c.2360C=
14g.91272580G>TCA2626127073CCDC88Cc.*45C>A (n.*45C>A)
c.2360C>A
 gnomAD v4
14g.91272581G>ACA2154899859CCDC88Cc.*44C>T (n.*44C>T)
c.2359C>T
 dbSNP
14g.91272581G>CCA2626127074CCDC88Cc.*44C>G (n.*44C>G)
c.2359C>G
 gnomAD v4
14g.91272581G=CA2154899858CCDC88Cc.*44C= (n.*44C=)
c.2359C=
14g.91272581G>TCA616112281CCDC88Cc.*44C>A (n.*44C>A)
c.2359C>A
 dbSNP gnomAD v2 gnomAD v4
14g.91272582C>ACA7308490CCDC88Cc.*43G>T (n.*43G>T)
c.2358G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272582C=CA2154899862CCDC88Cc.*43G= (n.*43G=)
c.2358G=
14g.91272582C>TCA7308491CCDC88Cc.*43G>A (n.*43G>A)
c.2358G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272583G>ACA7308492CCDC88Cc.*42C>T (n.*42C>T)
c.2357C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272583G=CA2154899865CCDC88Cc.*42C= (n.*42C=)
c.2357C=
14g.91272583G>TCA2626127075CCDC88Cc.*42C>A (n.*42C>A)
c.2357C>A
 gnomAD v4
14g.91272584C=CA2154899866CCDC88Cc.*41G= (n.*41G=)
c.2356G=
14g.91272584C>TCA7308493CCDC88Cc.*41G>A (n.*41G>A)
c.2356G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272585G>ACA7308495CCDC88Cc.*40C>T (n.*40C>T)
c.2355C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272585G=CA2154899868CCDC88Cc.*40C= (n.*40C=)
c.2355C=
14g.91272585G>TCA7308494CCDC88Cc.*40C>A (n.*40C>A)
c.2355C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272586T>CCA7308496CCDC88Cc.*39A>G (n.*39A>G)
c.2354A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272586T=CA2154899871CCDC88Cc.*39A= (n.*39A=)
c.2354A=
14g.91272587C>ACA2626127076CCDC88Cc.*38G>T (n.*38G>T)
c.2353G>T
 gnomAD v4
14g.91272587C=CA2154899872CCDC88Cc.*38G= (n.*38G=)
c.2353G=
14g.91272587C>GCA2154899874CCDC88Cc.*38G>C (n.*38G>C)
c.2353G>C
 dbSNP
14g.91272589G>CCA2626127077CCDC88Cc.*36C>G (n.*36C>G)
c.2351C>G
 gnomAD v4
14g.91272589G>TCA2626127078CCDC88Cc.*36C>A (n.*36C>A)
c.2351C>A
 gnomAD v4
14g.91272591A=CA2154899876CCDC88Cc.*34T= (n.*34T=)
c.2349T=
14g.91272591A>GCA7308497CCDC88Cc.*34T>C (n.*34T>C)
c.2349T>C
 dbSNP ExAC gnomAD v2
14g.91272592G>ACA7308498CCDC88Cc.*33C>T (n.*33C>T)
c.2348C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272592G>CCA616112282CCDC88Cc.*33C>G (n.*33C>G)
c.2348C>G
 dbSNP gnomAD v2 gnomAD v4
14g.91272592G=CA2154899879CCDC88Cc.*33C= (n.*33C=)
c.2348C=
14g.91272592G>TCA2626127079CCDC88Cc.*33C>A (n.*33C>A)
c.2348C>A
 gnomAD v4
14g.91272593T>CCA7308499CCDC88Cc.*32A>G (n.*32A>G)
c.2347A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272593T=CA2154899884CCDC88Cc.*32A= (n.*32A=)
c.2347A=
14g.91272594T>CCA2802580913CCDC88Cc.*31A>G (n.*31A>G)
c.2346A>G
14g.91272595T>CCA2626127080CCDC88Cc.*30A>G (n.*30A>G)
c.2345A>G
 gnomAD v4
14g.91272596T>CCA7308500CCDC88Cc.*29A>G (n.*29A>G)
c.2344A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272596T=CA2154899886CCDC88Cc.*29A= (n.*29A=)
c.2344A=
14g.91272597C>ACA2626127082CCDC88Cc.*28G>T (n.*28G>T)
c.2343G>T
 gnomAD v4
14g.91272597C=CA2154899888CCDC88Cc.*28G= (n.*28G=)
c.2343G=
14g.91272597C>GCA709860031CCDC88Cc.*28G>C (n.*28G>C)
c.2343G>C
 dbSNP gnomAD v3 gnomAD v4
14g.91272597C>TCA616112283CCDC88Cc.*28G>A (n.*28G>A)
c.2343G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272598A>GCA2802580914CCDC88Cc.*27T>C (n.*27T>C)
c.2342T>C
14g.91272599G>ACA616112284CCDC88Cc.*26C>T (n.*26C>T)
c.2341C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91272599G>CCA2626127084CCDC88Cc.*26C>G (n.*26C>G)
c.2341C>G
 gnomAD v4
14g.91272599G=CA2154899891CCDC88Cc.*26C= (n.*26C=)
c.2341C=
14g.91272599G>TCA2626127085CCDC88Cc.*26C>A (n.*26C>A)
c.2341C>A
 gnomAD v4
14g.91272600G>TCA2626127087CCDC88Cc.*25C>A (n.*25C>A)
c.2340C>A
 gnomAD v4
14g.91272601T>ACA2626127088CCDC88Cc.*24A>T (n.*24A>T)
c.2339A>T
 gnomAD v4
14g.91272604G>CCA7308501CCDC88Cc.*21C>G (n.*21C>G)
c.2336C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272604G=CA2154899892CCDC88Cc.*21C= (n.*21C=)
c.2336C=
14g.91272604G>TCA2154899894CCDC88Cc.*21C>A (n.*21C>A)
c.2336C>A
 dbSNP gnomAD v4
14g.91272605C>ACA7308503CCDC88Cc.*20G>T (n.*20G>T)
c.2335G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272605C=CA2154899895CCDC88Cc.*20G= (n.*20G=)
c.2335G=
14g.91272605C>TCA7308502CCDC88Cc.*20G>A (n.*20G>A)
c.2335G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272606G>ACA265516905CCDC88Cc.*19C>T (n.*19C>T)
c.2334C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272606G=CA2154899898CCDC88Cc.*19C= (n.*19C=)
c.2334C=
14g.91272606G>TCA2626127092CCDC88Cc.*19C>A (n.*19C>A)
c.2334C>A
 gnomAD v4
14g.91272606_91272607delinsGACA2154899900CCDC88Cc.*18_*19delinsTC (n.*18_*19delinsTC)
c.2333_2334delinsTC
14g.91272607delCA965920741CCDC88Cc.*18del (n.*18del)
c.2333del
 dbSNP gnomAD v3 gnomAD v4
14g.91272607A>GCA2626127093CCDC88Cc.*18T>C (n.*18T>C)
c.2333T>C
 gnomAD v4
14g.91272608G>ACA2626127095CCDC88Cc.*17C>T (n.*17C>T)
c.2332C>T
 gnomAD v4
14g.91272608G>TCA2626127096CCDC88Cc.*17C>A (n.*17C>A)
c.2332C>A
 gnomAD v4
14g.91272609C>ACA2626127098CCDC88Cc.*16G>T (n.*16G>T)
c.2331G>T
 gnomAD v4
14g.91272609C>TCA2841354261CCDC88Cc.*16G>A (n.*16G>A)
c.2331G>A
14g.91272610T>CCA2626127099CCDC88Cc.*15A>G (n.*15A>G)
c.2330A>G
 gnomAD v4
14g.91272611C>ACA2626127100CCDC88Cc.*14G>T (n.*14G>T)
c.2329G>T
 gnomAD v4
14g.91272612A>CCA2575602865CCDC88Cc.*13T>G (n.*13T>G)
c.2328T>G
 gnomAD v4
14g.91272612A>GCA2575602866CCDC88Cc.*13T>C (n.*13T>C)
c.2328T>C
14g.91272613A>TCA2626127101CCDC88Cc.*12T>A (n.*12T>A)
c.2327T>A
 gnomAD v4
14g.91272614C>ACA2626127102CCDC88Cc.*11G>T (n.*11G>T)
c.2326G>T
 gnomAD v4
14g.91272614C>TCA2626127103CCDC88Cc.*11G>A (n.*11G>A)
c.2326G>A
 gnomAD v4
14g.91272615C>ACA2626127105CCDC88Cc.*10G>T (n.*10G>T)
c.2325G>T
 gnomAD v4
14g.91272615C=CA2154899901CCDC88Cc.*10G= (n.*10G=)
c.2325G=
14g.91272615C>GCA709860038CCDC88Cc.*10G>C (n.*10G>C)
c.2325G>C
 dbSNP
14g.91272615C>TCA2626127106CCDC88Cc.*10G>A (n.*10G>A)
c.2325G>A
 gnomAD v4
14g.91272616A=CA2154899903CCDC88Cc.*9T= (n.*9T=)
c.2324T=
14g.91272616A>GCA7308504CCDC88Cc.*9T>C (n.*9T>C)
c.2324T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272617C=CA2154899908CCDC88Cc.*8G= (n.*8G=)
c.2323G=
14g.91272617C>TCA7308505CCDC88Cc.*8G>A (n.*8G>A)
c.2323G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272617_91272618delinsCGCA2154899907CCDC88Cc.*7_*8delinsCG (n.*7_*8delinsCG)
c.2322_2323delinsCG
14g.91272618delCA7308506CCDC88Cc.*7del (n.*7del)
c.2322del
 dbSNP ExAC gnomAD v2
14g.91272618G>ACA616112267CCDC88Cc.*7C>T (n.*7C>T)
c.2322C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91272618G>CCA616112268CCDC88Cc.*7C>G (n.*7C>G)
c.2322C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272618G=CA2154899916CCDC88Cc.*7C= (n.*7C=)
c.2322C=
14g.91272618G>TCA2626127108CCDC88Cc.*7C>A (n.*7C>A)
c.2322C>A
 gnomAD v4
14g.91272618_91272622delinsGAGACCA2154899913CCDC88Cc.*3_*7delinsGTCTC (n.*3_*7delinsGTCTC)
c.2318_2322delinsGTCTC
14g.91272619A>CCA2575602867CCDC88Cc.*6T>G (n.*6T>G)
c.2321T>G
14g.91272619A>GCA2626127111CCDC88Cc.*6T>C (n.*6T>C)
c.2321T>C
 gnomAD v4
14g.91272619dupCA2626127110CCDC88Cc.*6dup (n.*6dup)
c.2321dup
 gnomAD v4
14g.91272621_91272624delCA965920747CCDC88Cc.*3_*6del (n.*3_*6del)
c.2318_2321del
 dbSNP gnomAD v3 gnomAD v4
14g.91272620G>ACA2626127113CCDC88Cc.*5C>T (n.*5C>T)
c.2320C>T
 gnomAD v4
14g.91272620G>TCA2626127114CCDC88Cc.*5C>A (n.*5C>A)
c.2320C>A
 gnomAD v4
14g.91272622_91272623delCA2626127115CCDC88Cc.*3_*4del (n.*3_*4del)
c.2318_2319del
 gnomAD v4
14g.91272622C>ACA2626127116CCDC88Cc.*3G>T (n.*3G>T)
c.2318G>T
 gnomAD v4
14g.91272622C>GCA2626127117CCDC88Cc.*3G>C (n.*3G>C)
c.2318G>C
 gnomAD v4
14g.91272622C>TCA2626127118CCDC88Cc.*3G>A (n.*3G>A)
c.2318G>A
 gnomAD v4
14g.91272624G>ACA2626127120CCDC88Cc.*1C>T (n.*1C>T)
c.2316C>T
 gnomAD v4
14g.91272624G>TCA2626127121CCDC88Cc.*1C>A (n.*1C>A)
c.2316C>A
 gnomAD v4
14g.91272625T>ACA390607903CCDC88Cc.6087A>T (p.Ter2029Cys)
c.1521A>T (p.Ter507Cys)
c.2315A>T
c.5979A>T (p.Ter1993Cys)
c.3168A>T (p.Ter1056Cys)
14g.91272625T>CCA390607902CCDC88Cc.6087A>G (p.Ter2029Trp)
c.1521A>G (p.Ter507Trp)
c.2315A>G
c.5979A>G (p.Ter1993Trp)
c.3168A>G (p.Ter1056Trp)
14g.91272625T>GCA390607901CCDC88Cc.6087A>C (p.Ter2029Cys)
c.1521A>C (p.Ter507Cys)
c.2315A>C
c.5979A>C (p.Ter1993Cys)
c.3168A>C (p.Ter1056Cys)
 gnomAD v4
14g.91272625_91272627delinsTCACA2154899919CCDC88Cc.6085_6087delinsTGA (p.Ter2029=)
c.1519_1521delinsTGA (p.Ter507=)
c.2313_2315delinsTGA
c.5977_5979delinsTGA (p.Ter1993=)
c.3166_3168delinsTGA (p.Ter1056=)
14g.91272626C>ACA390607904CCDC88Cc.6086G>T (p.Ter2029Leu)
c.1520G>T (p.Ter507Leu)
c.2314G>T
c.5978G>T (p.Ter1993Leu)
c.3167G>T (p.Ter1056Leu)
14g.91272626C>GCA390607905CCDC88Cc.6086G>C (p.Ter2029Ser)
c.1520G>C (p.Ter507Ser)
c.2314G>C
c.5978G>C (p.Ter1993Ser)
c.3167G>C (p.Ter1056Ser)
14g.91272626C>TCA487828413CCDC88Cc.6086G>A (p.Ter2029=)
c.1520G>A (p.Ter507=)
c.2314G>A
c.5978G>A (p.Ter1993=)
c.3167G>A (p.Ter1056=)
14g.91272632_91272633delCA919477247CCDC88Cc.6085_6086del (p.Ter2029ThrextTer10)
c.1519_1520del (p.Ter507ThrextTer10)
c.2313_2314del
c.5977_5978del (p.Ter1993ThrextTer10)
c.3166_3167del (p.Ter1056ThrextTer10)
 dbSNP gnomAD v4
14g.91272627A=CA2154899925CCDC88Cc.6085T= (p.Ter2029=)
c.1519T= (p.Ter507=)
c.2313T=
c.5977T= (p.Ter1993=)
c.3166T= (p.Ter1056=)
14g.91272627A>CCA390607906CCDC88Cc.6085T>G (p.Ter2029Gly)
c.1519T>G (p.Ter507Gly)
c.2313T>G
c.5977T>G (p.Ter1993Gly)
c.3166T>G (p.Ter1056Gly)
14g.91272627A>GCA390607907CCDC88Cc.6085T>C (p.Ter2029Arg)
c.1519T>C (p.Ter507Arg)
c.2313T>C
c.5977T>C (p.Ter1993Arg)
c.3166T>C (p.Ter1056Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.91272627A>TCA390607908CCDC88Cc.6085T>A (p.Ter2029Arg)
c.1519T>A (p.Ter507Arg)
c.2313T>A
c.5977T>A (p.Ter1993Arg)
c.3166T>A (p.Ter1056Arg)
14g.91272628C>ACA487828417CCDC88Cc.6084G>T (p.Val2028=)
c.1518G>T (p.Val506=)
c.2312G>T
c.5976G>T (p.Val1992=)
c.3165G>T (p.Val1055=)
 gnomAD v4
14g.91272628C=CA2154899927CCDC88Cc.6084G= (p.Val2028=)
c.1518G= (p.Val506=)
c.2312G=
c.5976G= (p.Val1992=)
c.3165G= (p.Val1055=)
14g.91272628C>GCA7308507CCDC88Cc.6084G>C (p.Val2028=)
c.1518G>C (p.Val506=)
c.2312G>C
c.5976G>C (p.Val1992=)
c.3165G>C (p.Val1055=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272628C>TCA487828416CCDC88Cc.6084G>A (p.Val2028=)
c.1518G>A (p.Val506=)
c.2312G>A
c.5976G>A (p.Val1992=)
c.3165G>A (p.Val1055=)
14g.91272629A>CCA390607909CCDC88Cc.6083T>G (p.Val2028Gly)
c.1517T>G (p.Val506Gly)
c.2311T>G
c.5975T>G (p.Val1992Gly)
c.3164T>G (p.Val1055Gly)
14g.91272629A>GCA390607910CCDC88Cc.6083T>C (p.Val2028Ala)
c.1517T>C (p.Val506Ala)
c.2311T>C
c.5975T>C (p.Val1992Ala)
c.3164T>C (p.Val1055Ala)
 gnomAD v4
14g.91272629A>TCA390607911CCDC88Cc.6083T>A (p.Val2028Glu)
c.1517T>A (p.Val506Glu)
c.2311T>A
c.5975T>A (p.Val1992Glu)
c.3164T>A (p.Val1055Glu)
14g.91272630C>ACA390607912CCDC88Cc.6082G>T (p.Val2028Leu)
c.1516G>T (p.Val506Leu)
c.2310G>T
c.5974G>T (p.Val1992Leu)
c.3163G>T (p.Val1055Leu)
 dbSNP gnomAD v4
14g.91272630C=CA2154899929CCDC88Cc.6082G= (p.Val2028=)
c.1516G= (p.Val506=)
c.2310G=
c.5974G= (p.Val1992=)
c.3163G= (p.Val1055=)
14g.91272630C>GCA390607913CCDC88Cc.6082G>C (p.Val2028Leu)
c.1516G>C (p.Val506Leu)
c.2310G>C
c.5974G>C (p.Val1992Leu)
c.3163G>C (p.Val1055Leu)
14g.91272630C>TCA390607914CCDC88Cc.6082G>A (p.Val2028Met)
c.1516G>A (p.Val506Met)
c.2310G>A
c.5974G>A (p.Val1992Met)
c.3163G>A (p.Val1055Met)
 gnomAD v4
14g.91272631A=CA2154899933CCDC88Cc.6081T= (p.Cys2027=)
c.1515T= (p.Cys505=)
c.2309T=
c.5973T= (p.Cys1991=)
c.3162T= (p.Cys1054=)
14g.91272631A>CCA390607916CCDC88Cc.6081T>G (p.Cys2027Trp)
c.1515T>G (p.Cys505Trp)
c.2309T>G
c.5973T>G (p.Cys1991Trp)
c.3162T>G (p.Cys1054Trp)
 dbSNP
14g.91272631A>GCA487828422CCDC88Cc.6081T>C (p.Cys2027=)
c.1515T>C (p.Cys505=)
c.2309T>C
c.5973T>C (p.Cys1991=)
c.3162T>C (p.Cys1054=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91272631A>TCA390607915CCDC88Cc.6081T>A (p.Cys2027Ter)
c.1515T>A (p.Cys505Ter)
c.2309T>A
c.5973T>A (p.Cys1991Ter)
c.3162T>A (p.Cys1054Ter)
14g.91272632C>ACA390607917CCDC88Cc.6080G>T (p.Cys2027Phe)
c.1514G>T (p.Cys505Phe)
c.2308G>T
c.5972G>T (p.Cys1991Phe)
c.3161G>T (p.Cys1054Phe)
 dbSNP
14g.91272632C=CA2154899936CCDC88Cc.6080G= (p.Cys2027=)
c.1514G= (p.Cys505=)
c.2308G=
c.5972G= (p.Cys1991=)
c.3161G= (p.Cys1054=)
14g.91272632C>GCA390607918CCDC88Cc.6080G>C (p.Cys2027Ser)
c.1514G>C (p.Cys505Ser)
c.2308G>C
c.5972G>C (p.Cys1991Ser)
c.3161G>C (p.Cys1054Ser)
 dbSNP
14g.91272632C>TCA390607919CCDC88Cc.6080G>A (p.Cys2027Tyr)
c.1514G>A (p.Cys505Tyr)
c.2308G>A
c.5972G>A (p.Cys1991Tyr)
c.3161G>A (p.Cys1054Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.91272633A=CA2154899939CCDC88Cc.6079T= (p.Cys2027=)
c.1513T= (p.Cys505=)
c.2307T=
c.5971T= (p.Cys1991=)
c.3160T= (p.Cys1054=)
14g.91272633A>CCA390607920CCDC88Cc.6079T>G (p.Cys2027Gly)
c.1513T>G (p.Cys505Gly)
c.2307T>G
c.5971T>G (p.Cys1991Gly)
c.3160T>G (p.Cys1054Gly)
14g.91272633A>GCA7308508CCDC88Cc.6079T>C (p.Cys2027Arg)
c.1513T>C (p.Cys505Arg)
c.2307T>C
c.5971T>C (p.Cys1991Arg)
c.3160T>C (p.Cys1054Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272633A>TCA390607921CCDC88Cc.6079T>A (p.Cys2027Ser)
c.1513T>A (p.Cys505Ser)
c.2307T>A
c.5971T>A (p.Cys1991Ser)
c.3160T>A (p.Cys1054Ser)
14g.91272634G>ACA7308509CCDC88Cc.6078C>T (p.Gly2026=)
c.1512C>T (p.Gly504=)
c.2306C>T
c.5970C>T (p.Gly1990=)
c.3159C>T (p.Gly1053=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272634G>CCA487828428CCDC88Cc.6078C>G (p.Gly2026=)
c.1512C>G (p.Gly504=)
c.2306C>G
c.5970C>G (p.Gly1990=)
c.3159C>G (p.Gly1053=)
14g.91272634G=CA2154899944CCDC88Cc.6078C= (p.Gly2026=)
c.1512C= (p.Gly504=)
c.2306C=
c.5970C= (p.Gly1990=)
c.3159C= (p.Gly1053=)
14g.91272634G>TCA487828429CCDC88Cc.6078C>A (p.Gly2026=)
c.1512C>A (p.Gly504=)
c.2306C>A
c.5970C>A (p.Gly1990=)
c.3159C>A (p.Gly1053=)
14g.91272635C>ACA390607922CCDC88Cc.6077G>T (p.Gly2026Val)
c.1511G>T (p.Gly504Val)
c.2305G>T
c.5969G>T (p.Gly1990Val)
c.3158G>T (p.Gly1053Val)
 dbSNP gnomAD v4
14g.91272635C=CA2154899946CCDC88Cc.6077G= (p.Gly2026=)
c.1511G= (p.Gly504=)
c.2305G=
c.5969G= (p.Gly1990=)
c.3158G= (p.Gly1053=)
14g.91272635C>GCA390607923CCDC88Cc.6077G>C (p.Gly2026Ala)
c.1511G>C (p.Gly504Ala)
c.2305G>C
c.5969G>C (p.Gly1990Ala)
c.3158G>C (p.Gly1053Ala)
14g.91272635C>TCA390607924CCDC88Cc.6077G>A (p.Gly2026Asp)
c.1511G>A (p.Gly504Asp)
c.2305G>A
c.5969G>A (p.Gly1990Asp)
c.3158G>A (p.Gly1053Asp)
 gnomAD v4
14g.91272636C>ACA390607925CCDC88Cc.6076G>T (p.Gly2026Cys)
c.1510G>T (p.Gly504Cys)
c.2304G>T
c.5968G>T (p.Gly1990Cys)
c.3157G>T (p.Gly1053Cys)
 gnomAD v4
14g.91272636C=CA2154899949CCDC88Cc.6076G= (p.Gly2026=)
c.1510G= (p.Gly504=)
c.2304G=
c.5968G= (p.Gly1990=)
c.3157G= (p.Gly1053=)
14g.91272636C>GCA390607926CCDC88Cc.6076G>C (p.Gly2026Arg)
c.1510G>C (p.Gly504Arg)
c.2304G>C
c.5968G>C (p.Gly1990Arg)
c.3157G>C (p.Gly1053Arg)
14g.91272636C>TCA7308510CCDC88Cc.6076G>A (p.Gly2026Ser)
c.1510G>A (p.Gly504Ser)
c.2304G>A
c.5968G>A (p.Gly1990Ser)
c.3157G>A (p.Gly1053Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272637G>ACA7308511CCDC88Cc.6075C>T (p.Tyr2025=)
c.1509C>T (p.Tyr503=)
c.2303C>T
c.5967C>T (p.Tyr1989=)
c.3156C>T (p.Tyr1052=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272637G>CCA390607928CCDC88Cc.6075C>G (p.Tyr2025Ter)
c.1509C>G (p.Tyr503Ter)
c.2303C>G
c.5967C>G (p.Tyr1989Ter)
c.3156C>G (p.Tyr1052Ter)
 gnomAD v4
14g.91272637G=CA2154899953CCDC88Cc.6075C= (p.Tyr2025=)
c.1509C= (p.Tyr503=)
c.2303C=
c.5967C= (p.Tyr1989=)
c.3156C= (p.Tyr1052=)
14g.91272637G>TCA390607927CCDC88Cc.6075C>A (p.Tyr2025Ter)
c.1509C>A (p.Tyr503Ter)
c.2303C>A
c.5967C>A (p.Tyr1989Ter)
c.3156C>A (p.Tyr1052Ter)
 gnomAD v4
14g.91272638T>ACA390607931CCDC88Cc.6074A>T (p.Tyr2025Phe)
c.1508A>T (p.Tyr503Phe)
c.2302A>T
c.5966A>T (p.Tyr1989Phe)
c.3155A>T (p.Tyr1052Phe)
14g.91272638T>CCA390607929CCDC88Cc.6074A>G (p.Tyr2025Cys)
c.1508A>G (p.Tyr503Cys)
c.2302A>G
c.5966A>G (p.Tyr1989Cys)
c.3155A>G (p.Tyr1052Cys)
14g.91272638T>GCA390607930CCDC88Cc.6074A>C (p.Tyr2025Ser)
c.1508A>C (p.Tyr503Ser)
c.2302A>C
c.5966A>C (p.Tyr1989Ser)
c.3155A>C (p.Tyr1052Ser)
14g.91272639A>CCA390607932CCDC88Cc.6073T>G (p.Tyr2025Asp)
c.1507T>G (p.Tyr503Asp)
c.2301T>G
c.5965T>G (p.Tyr1989Asp)
c.3154T>G (p.Tyr1052Asp)
14g.91272639A>GCA390607933CCDC88Cc.6073T>C (p.Tyr2025His)
c.1507T>C (p.Tyr503His)
c.2301T>C
c.5965T>C (p.Tyr1989His)
c.3154T>C (p.Tyr1052His)
14g.91272639A>TCA390607934CCDC88Cc.6073T>A (p.Tyr2025Asn)
c.1507T>A (p.Tyr503Asn)
c.2301T>A
c.5965T>A (p.Tyr1989Asn)
c.3154T>A (p.Tyr1052Asn)
14g.91272640C>ACA390607935CCDC88Cc.6072G>T (p.Glu2024Asp)
c.1506G>T (p.Glu502Asp)
c.2300G>T
c.5964G>T (p.Glu1988Asp)
c.3153G>T (p.Glu1051Asp)
14g.91272640C=CA2154899956CCDC88Cc.6072G= (p.Glu2024=)
c.1506G= (p.Glu502=)
c.2300G=
c.5964G= (p.Glu1988=)
c.3153G= (p.Glu1051=)
14g.91272640C>GCA390607936CCDC88Cc.6072G>C (p.Glu2024Asp)
c.1506G>C (p.Glu502Asp)
c.2300G>C
c.5964G>C (p.Glu1988Asp)
c.3153G>C (p.Glu1051Asp)
14g.91272640C>TCA487828443CCDC88Cc.6072G>A (p.Glu2024=)
c.1506G>A (p.Glu502=)
c.2300G>A
c.5964G>A (p.Glu1988=)
c.3153G>A (p.Glu1051=)
 dbSNP gnomAD v2
14g.91272640dupCA2626127136CCDC88Cc.6072dup (p.Tyr2025ValfsTer15)
c.1506dup (p.Tyr503ValfsTer15)
c.2300dup
c.5964dup (p.Tyr1989ValfsTer15)
c.3153dup (p.Tyr1052ValfsTer15)
 gnomAD v4
14g.91272641T>ACA390607937CCDC88Cc.6071A>T (p.Glu2024Val)
c.1505A>T (p.Glu502Val)
c.2299A>T
c.5963A>T (p.Glu1988Val)
c.3152A>T (p.Glu1051Val)
14g.91272641T>CCA390607938CCDC88Cc.6071A>G (p.Glu2024Gly)
c.1505A>G (p.Glu502Gly)
c.2299A>G
c.5963A>G (p.Glu1988Gly)
c.3152A>G (p.Glu1051Gly)
14g.91272641T>GCA390607939CCDC88Cc.6071A>C (p.Glu2024Ala)
c.1505A>C (p.Glu502Ala)
c.2299A>C
c.5963A>C (p.Glu1988Ala)
c.3152A>C (p.Glu1051Ala)
14g.91272641_91272642insATCA2154899959CCDC88Cc.6071_6072insTA (p.Glu2024AspfsTer?)
c.1505_1506insTA (p.Glu502AspfsTer?)
c.2299_2300insTA
c.5963_5964insTA (p.Glu1988AspfsTer?)
c.3152_3153insTA (p.Glu1051AspfsTer?)
 dbSNP
14g.91272642C>ACA390607940CCDC88Cc.6070G>T (p.Glu2024Ter)
c.1504G>T (p.Glu502Ter)
c.2298G>T
c.5962G>T (p.Glu1988Ter)
c.3151G>T (p.Glu1051Ter)
14g.91272642C>GCA390607941CCDC88Cc.6070G>C (p.Glu2024Gln)
c.1504G>C (p.Glu502Gln)
c.2298G>C
c.5962G>C (p.Glu1988Gln)
c.3151G>C (p.Glu1051Gln)
14g.91272642C>TCA390607942CCDC88Cc.6070G>A (p.Glu2024Lys)
c.1504G>A (p.Glu502Lys)
c.2298G>A
c.5962G>A (p.Glu1988Lys)
c.3151G>A (p.Glu1051Lys)
14g.91272643A=CA2154899961CCDC88Cc.6069T= (p.Tyr2023=)
c.1503T= (p.Tyr501=)
c.2297T=
c.5961T= (p.Tyr1987=)
c.3150T= (p.Tyr1050=)
14g.91272643A>CCA390607943CCDC88Cc.6069T>G (p.Tyr2023Ter)
c.1503T>G (p.Tyr501Ter)
c.2297T>G
c.5961T>G (p.Tyr1987Ter)
c.3150T>G (p.Tyr1050Ter)
14g.91272643A>GCA487828445CCDC88Cc.6069T>C (p.Tyr2023=)
c.1503T>C (p.Tyr501=)
c.2297T>C
c.5961T>C (p.Tyr1987=)
c.3150T>C (p.Tyr1050=)
 dbSNP
14g.91272643A>TCA390607944CCDC88Cc.6069T>A (p.Tyr2023Ter)
c.1503T>A (p.Tyr501Ter)
c.2297T>A
c.5961T>A (p.Tyr1987Ter)
c.3150T>A (p.Tyr1050Ter)
14g.91272644T>ACA390607945CCDC88Cc.6068A>T (p.Tyr2023Phe)
c.1502A>T (p.Tyr501Phe)
c.2296A>T
c.5960A>T (p.Tyr1987Phe)
c.3149A>T (p.Tyr1050Phe)
14g.91272644T>CCA390607946CCDC88Cc.6068A>G (p.Tyr2023Cys)
c.1502A>G (p.Tyr501Cys)
c.2296A>G
c.5960A>G (p.Tyr1987Cys)
c.3149A>G (p.Tyr1050Cys)
 gnomAD v4
14g.91272644T>GCA390607947CCDC88Cc.6068A>C (p.Tyr2023Ser)
c.1502A>C (p.Tyr501Ser)
c.2296A>C
c.5960A>C (p.Tyr1987Ser)
c.3149A>C (p.Tyr1050Ser)
14g.91272645A>CCA390607948CCDC88Cc.6067T>G (p.Tyr2023Asp)
c.1501T>G (p.Tyr501Asp)
c.2295T>G
c.5959T>G (p.Tyr1987Asp)
c.3148T>G (p.Tyr1050Asp)
14g.91272645A>GCA390607949CCDC88Cc.6067T>C (p.Tyr2023His)
c.1501T>C (p.Tyr501His)
c.2295T>C
c.5959T>C (p.Tyr1987His)
c.3148T>C (p.Tyr1050His)
 gnomAD v4
14g.91272645A>TCA390607950CCDC88Cc.6067T>A (p.Tyr2023Asn)
c.1501T>A (p.Tyr501Asn)
c.2295T>A
c.5959T>A (p.Tyr1987Asn)
c.3148T>A (p.Tyr1050Asn)
14g.91272646C>ACA390607951CCDC88Cc.6066G>T (p.Trp2022Cys)
c.1500G>T (p.Trp500Cys)
c.2294G>T
c.5958G>T (p.Trp1986Cys)
c.3147G>T (p.Trp1049Cys)
14g.91272646C>GCA390607952CCDC88Cc.6066G>C (p.Trp2022Cys)
c.1500G>C (p.Trp500Cys)
c.2294G>C
c.5958G>C (p.Trp1986Cys)
c.3147G>C (p.Trp1049Cys)
14g.91272646C>TCA390607953CCDC88Cc.6066G>A (p.Trp2022Ter)
c.1500G>A (p.Trp500Ter)
c.2294G>A
c.5958G>A (p.Trp1986Ter)
c.3147G>A (p.Trp1049Ter)
 gnomAD v4
14g.91272647C>ACA390607954CCDC88Cc.6065G>T (p.Trp2022Leu)
c.1499G>T (p.Trp500Leu)
c.2293G>T
c.5957G>T (p.Trp1986Leu)
c.3146G>T (p.Trp1049Leu)
14g.91272647C>GCA390607955CCDC88Cc.6065G>C (p.Trp2022Ser)
c.1499G>C (p.Trp500Ser)
c.2293G>C
c.5957G>C (p.Trp1986Ser)
c.3146G>C (p.Trp1049Ser)
14g.91272647C>TCA390607956CCDC88Cc.6065G>A (p.Trp2022Ter)
c.1499G>A (p.Trp500Ter)
c.2293G>A
c.5957G>A (p.Trp1986Ter)
c.3146G>A (p.Trp1049Ter)
 gnomAD v4
14g.91272648A>CCA390607958CCDC88Cc.6064T>G (p.Trp2022Gly)
c.1498T>G (p.Trp500Gly)
c.2292T>G
c.5956T>G (p.Trp1986Gly)
c.3145T>G (p.Trp1049Gly)
14g.91272648A>GCA390607959CCDC88Cc.6064T>C (p.Trp2022Arg)
c.1498T>C (p.Trp500Arg)
c.2292T>C
c.5956T>C (p.Trp1986Arg)
c.3145T>C (p.Trp1049Arg)
14g.91272648A>TCA390607957CCDC88Cc.6064T>A (p.Trp2022Arg)
c.1498T>A (p.Trp500Arg)
c.2292T>A
c.5956T>A (p.Trp1986Arg)
c.3145T>A (p.Trp1049Arg)
14g.91272649C>ACA487828450CCDC88Cc.6063G>T (p.Val2021=)
c.1497G>T (p.Val499=)
c.2291G>T
c.5955G>T (p.Val1985=)
c.3144G>T (p.Val1048=)
 gnomAD v4
14g.91272649C>GCA487828451CCDC88Cc.6063G>C (p.Val2021=)
c.1497G>C (p.Val499=)
c.2291G>C
c.5955G>C (p.Val1985=)
c.3144G>C (p.Val1048=)
14g.91272649C>TCA487828452CCDC88Cc.6063G>A (p.Val2021=)
c.1497G>A (p.Val499=)
c.2291G>A
c.5955G>A (p.Val1985=)
c.3144G>A (p.Val1048=)
 gnomAD v4
14g.91272650A=CA2154899964CCDC88Cc.6062T= (p.Val2021=)
c.1496T= (p.Val499=)
c.2290T=
c.5954T= (p.Val1985=)
c.3143T= (p.Val1048=)
14g.91272650A>CCA390607960CCDC88Cc.6062T>G (p.Val2021Gly)
c.1496T>G (p.Val499Gly)
c.2290T>G
c.5954T>G (p.Val1985Gly)
c.3143T>G (p.Val1048Gly)
14g.91272650A>GCA265516934CCDC88Cc.6062T>C (p.Val2021Ala)
c.1496T>C (p.Val499Ala)
c.2290T>C
c.5954T>C (p.Val1985Ala)
c.3143T>C (p.Val1048Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272650A>TCA390607961CCDC88Cc.6062T>A (p.Val2021Glu)
c.1496T>A (p.Val499Glu)
c.2290T>A
c.5954T>A (p.Val1985Glu)
c.3143T>A (p.Val1048Glu)
14g.91272651C>ACA390607962CCDC88Cc.6061G>T (p.Val2021Leu)
c.1495G>T (p.Val499Leu)
c.2289G>T
c.5953G>T (p.Val1985Leu)
c.3142G>T (p.Val1048Leu)
 gnomAD v4
14g.91272651C=CA2154899968CCDC88Cc.6061G= (p.Val2021=)
c.1495G= (p.Val499=)
c.2289G=
c.5953G= (p.Val1985=)
c.3142G= (p.Val1048=)
14g.91272651C>GCA390607963CCDC88Cc.6061G>C (p.Val2021Leu)
c.1495G>C (p.Val499Leu)
c.2289G>C
c.5953G>C (p.Val1985Leu)
c.3142G>C (p.Val1048Leu)
 dbSNP
14g.91272651C>TCA7308512CCDC88Cc.6061G>A (p.Val2021Met)
c.1495G>A (p.Val499Met)
c.2289G>A
c.5953G>A (p.Val1985Met)
c.3142G>A (p.Val1048Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272652G>ACA7308513CCDC88Cc.6060C>T (p.Thr2020=)
c.1494C>T (p.Thr498=)
c.2288C>T
c.5952C>T (p.Thr1984=)
c.3141C>T (p.Thr1047=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272652G>CCA487828455CCDC88Cc.6060C>G (p.Thr2020=)
c.1494C>G (p.Thr498=)
c.2288C>G
c.5952C>G (p.Thr1984=)
c.3141C>G (p.Thr1047=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272652G=CA2154899971CCDC88Cc.6060C= (p.Thr2020=)
c.1494C= (p.Thr498=)
c.2288C=
c.5952C= (p.Thr1984=)
c.3141C= (p.Thr1047=)
14g.91272652G>TCA487828456CCDC88Cc.6060C>A (p.Thr2020=)
c.1494C>A (p.Thr498=)
c.2288C>A
c.5952C>A (p.Thr1984=)
c.3141C>A (p.Thr1047=)
14g.91272652_91272653delinsAACA645594357CCDC88Cc.6059_6060delinsTT (p.Thr2020Ile)
c.1493_1494delinsTT (p.Thr498Ile)
c.2287_2288delinsTT
c.5951_5952delinsTT (p.Thr1984Ile)
c.3140_3141delinsTT (p.Thr1047Ile)
 COSMIC COSMIC COSMIC
14g.91272653G>ACA390607964CCDC88Cc.6059C>T (p.Thr2020Ile)
c.1493C>T (p.Thr498Ile)
c.2287C>T
c.5951C>T (p.Thr1984Ile)
c.3140C>T (p.Thr1047Ile)
14g.91272653G>CCA390607966CCDC88Cc.6059C>G (p.Thr2020Ser)
c.1493C>G (p.Thr498Ser)
c.2287C>G
c.5951C>G (p.Thr1984Ser)
c.3140C>G (p.Thr1047Ser)
14g.91272653G>TCA390607965CCDC88Cc.6059C>A (p.Thr2020Asn)
c.1493C>A (p.Thr498Asn)
c.2287C>A
c.5951C>A (p.Thr1984Asn)
c.3140C>A (p.Thr1047Asn)
 gnomAD v4
14g.91272654T>ACA390607967CCDC88Cc.6058A>T (p.Thr2020Ser)
c.1492A>T (p.Thr498Ser)
c.2286A>T
c.5950A>T (p.Thr1984Ser)
c.3139A>T (p.Thr1047Ser)
14g.91272654T>CCA390607968CCDC88Cc.6058A>G (p.Thr2020Ala)
c.1492A>G (p.Thr498Ala)
c.2286A>G
c.5950A>G (p.Thr1984Ala)
c.3139A>G (p.Thr1047Ala)
14g.91272654T>GCA390607969CCDC88Cc.6058A>C (p.Thr2020Pro)
c.1492A>C (p.Thr498Pro)
c.2286A>C
c.5950A>C (p.Thr1984Pro)
c.3139A>C (p.Thr1047Pro)
14g.91272655C>ACA390607970CCDC88Cc.6057G>T (p.Gln2019His)
c.1491G>T (p.Gln497His)
c.2285G>T
c.5949G>T (p.Gln1983His)
c.3138G>T (p.Gln1046His)
 gnomAD v4
14g.91272655C>GCA390607971CCDC88Cc.6057G>C (p.Gln2019His)
c.1491G>C (p.Gln497His)
c.2285G>C
c.5949G>C (p.Gln1983His)
c.3138G>C (p.Gln1046His)
14g.91272655C>TCA487828458CCDC88Cc.6057G>A (p.Gln2019=)
c.1491G>A (p.Gln497=)
c.2285G>A
c.5949G>A (p.Gln1983=)
c.3138G>A (p.Gln1046=)
 COSMIC COSMIC COSMIC
14g.91272656T>ACA390607972CCDC88Cc.6056A>T (p.Gln2019Leu)
c.1490A>T (p.Gln497Leu)
c.2284A>T
c.5948A>T (p.Gln1983Leu)
c.3137A>T (p.Gln1046Leu)
14g.91272656T>CCA390607974CCDC88Cc.6056A>G (p.Gln2019Arg)
c.1490A>G (p.Gln497Arg)
c.2284A>G
c.5948A>G (p.Gln1983Arg)
c.3137A>G (p.Gln1046Arg)
14g.91272656T>GCA390607973CCDC88Cc.6056A>C (p.Gln2019Pro)
c.1490A>C (p.Gln497Pro)
c.2284A>C
c.5948A>C (p.Gln1983Pro)
c.3137A>C (p.Gln1046Pro)
14g.91272657G>ACA390607975CCDC88Cc.6055C>T (p.Gln2019Ter)
c.1489C>T (p.Gln497Ter)
c.2283C>T
c.5947C>T (p.Gln1983Ter)
c.3136C>T (p.Gln1046Ter)
 gnomAD v4
14g.91272657G>CCA390607976CCDC88Cc.6055C>G (p.Gln2019Glu)
c.1489C>G (p.Gln497Glu)
c.2283C>G
c.5947C>G (p.Gln1983Glu)
c.3136C>G (p.Gln1046Glu)
14g.91272657G>TCA390607977CCDC88Cc.6055C>A (p.Gln2019Lys)
c.1489C>A (p.Gln497Lys)
c.2283C>A
c.5947C>A (p.Gln1983Lys)
c.3136C>A (p.Gln1046Lys)
14g.91272658C>ACA487828460CCDC88Cc.6054G>T (p.Pro2018=)
c.1488G>T (p.Pro496=)
c.2282G>T
c.5946G>T (p.Pro1982=)
c.3135G>T (p.Pro1045=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91272658C=CA2154899977CCDC88Cc.6054G= (p.Pro2018=)
c.1488G= (p.Pro496=)
c.2282G=
c.5946G= (p.Pro1982=)
c.3135G= (p.Pro1045=)
14g.91272658C>GCA487828461CCDC88Cc.6054G>C (p.Pro2018=)
c.1488G>C (p.Pro496=)
c.2282G>C
c.5946G>C (p.Pro1982=)
c.3135G>C (p.Pro1045=)
14g.91272658C>TCA7308514CCDC88Cc.6054G>A (p.Pro2018=)
c.1488G>A (p.Pro496=)
c.2282G>A
c.5946G>A (p.Pro1982=)
c.3135G>A (p.Pro1045=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272659G>ACA7308515CCDC88Cc.6053C>T (p.Pro2018Leu)
c.1487C>T (p.Pro496Leu)
c.2281C>T
c.5945C>T (p.Pro1982Leu)
c.3134C>T (p.Pro1045Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272659G>CCA390607978CCDC88Cc.6053C>G (p.Pro2018Arg)
c.1487C>G (p.Pro496Arg)
c.2281C>G
c.5945C>G (p.Pro1982Arg)
c.3134C>G (p.Pro1045Arg)
 gnomAD v4
14g.91272659G=CA2154899980CCDC88Cc.6053C= (p.Pro2018=)
c.1487C= (p.Pro496=)
c.2281C=
c.5945C= (p.Pro1982=)
c.3134C= (p.Pro1045=)
14g.91272659G>TCA390607979CCDC88Cc.6053C>A (p.Pro2018Gln)
c.1487C>A (p.Pro496Gln)
c.2281C>A
c.5945C>A (p.Pro1982Gln)
c.3134C>A (p.Pro1045Gln)
14g.91272660G>ACA390607980CCDC88Cc.6052C>T (p.Pro2018Ser)
c.1486C>T (p.Pro496Ser)
c.2280C>T
c.5944C>T (p.Pro1982Ser)
c.3133C>T (p.Pro1045Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91272660G>CCA390607981CCDC88Cc.6052C>G (p.Pro2018Ala)
c.1486C>G (p.Pro496Ala)
c.2280C>G
c.5944C>G (p.Pro1982Ala)
c.3133C>G (p.Pro1045Ala)
14g.91272660G=CA2154899984CCDC88Cc.6052C= (p.Pro2018=)
c.1486C= (p.Pro496=)
c.2280C=
c.5944C= (p.Pro1982=)
c.3133C= (p.Pro1045=)
14g.91272660G>TCA390607982CCDC88Cc.6052C>A (p.Pro2018Thr)
c.1486C>A (p.Pro496Thr)
c.2280C>A
c.5944C>A (p.Pro1982Thr)
c.3133C>A (p.Pro1045Thr)
 gnomAD v4
14g.91272661A>CCA390607983CCDC88Cc.6051T>G (p.Asp2017Glu)
c.1485T>G (p.Asp495Glu)
c.2279T>G
c.5943T>G (p.Asp1981Glu)
c.3132T>G (p.Asp1044Glu)
14g.91272661A>GCA487828466CCDC88Cc.6051T>C (p.Asp2017=)
c.1485T>C (p.Asp495=)
c.2279T>C
c.5943T>C (p.Asp1981=)
c.3132T>C (p.Asp1044=)
14g.91272661A>TCA390607984CCDC88Cc.6051T>A (p.Asp2017Glu)
c.1485T>A (p.Asp495Glu)
c.2279T>A
c.5943T>A (p.Asp1981Glu)
c.3132T>A (p.Asp1044Glu)
14g.91272662T>ACA390607987CCDC88Cc.6050A>T (p.Asp2017Val)
c.1484A>T (p.Asp495Val)
c.2278A>T
c.5942A>T (p.Asp1981Val)
c.3131A>T (p.Asp1044Val)
14g.91272662T>CCA390607985CCDC88Cc.6050A>G (p.Asp2017Gly)
c.1484A>G (p.Asp495Gly)
c.2278A>G
c.5942A>G (p.Asp1981Gly)
c.3131A>G (p.Asp1044Gly)
14g.91272662T>GCA390607986CCDC88Cc.6050A>C (p.Asp2017Ala)
c.1484A>C (p.Asp495Ala)
c.2278A>C
c.5942A>C (p.Asp1981Ala)
c.3131A>C (p.Asp1044Ala)
14g.91272662_91272663delinsTCCA2154899986CCDC88Cc.6049_6050delinsGA (p.Asp2017=)
c.1483_1484delinsGA (p.Asp495=)
c.2277_2278delinsGA
c.5941_5942delinsGA (p.Asp1981=)
c.3130_3131delinsGA (p.Asp1044=)
14g.91272663C>ACA390607988CCDC88Cc.6049G>T (p.Asp2017Tyr)
c.1483G>T (p.Asp495Tyr)
c.2277G>T
c.5941G>T (p.Asp1981Tyr)
c.3130G>T (p.Asp1044Tyr)
14g.91272663C=CA2154899994CCDC88Cc.6049G= (p.Asp2017=)
c.1483G= (p.Asp495=)
c.2277G=
c.5941G= (p.Asp1981=)
c.3130G= (p.Asp1044=)
14g.91272663C>GCA390607990CCDC88Cc.6049G>C (p.Asp2017His)
c.1483G>C (p.Asp495His)
c.2277G>C
c.5941G>C (p.Asp1981His)
c.3130G>C (p.Asp1044His)
14g.91272663C>TCA390607989CCDC88Cc.6049G>A (p.Asp2017Asn)
c.1483G>A (p.Asp495Asn)
c.2277G>A
c.5941G>A (p.Asp1981Asn)
c.3130G>A (p.Asp1044Asn)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
14g.91272666dupCA2838367087CCDC88Cc.6049dup (p.Asp2017GlyfsTer8)
c.1483dup (p.Asp495GlyfsTer8)
c.2277dup
c.5941dup (p.Asp1981GlyfsTer8)
c.3130dup (p.Asp1044GlyfsTer8)
14g.91272666delCA616112269CCDC88Cc.6049del (p.Asp2017IlefsTer?)
c.1483del (p.Asp495IlefsTer?)
c.2277del
c.5941del (p.Asp1981IlefsTer?)
c.3130del (p.Asp1044IlefsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272664C>ACA487828467CCDC88Cc.6048G>T (p.Gly2016=)
c.1482G>T (p.Gly494=)
c.2276G>T
c.5940G>T (p.Gly1980=)
c.3129G>T (p.Gly1043=)
14g.91272664C>GCA487828468CCDC88Cc.6048G>C (p.Gly2016=)
c.1482G>C (p.Gly494=)
c.2276G>C
c.5940G>C (p.Gly1980=)
c.3129G>C (p.Gly1043=)
14g.91272664C>TCA487828469CCDC88Cc.6048G>A (p.Gly2016=)
c.1482G>A (p.Gly494=)
c.2276G>A
c.5940G>A (p.Gly1980=)
c.3129G>A (p.Gly1043=)
14g.91272665C>ACA390607991CCDC88Cc.6047G>T (p.Gly2016Val)
c.1481G>T (p.Gly494Val)
c.2275G>T
c.5939G>T (p.Gly1980Val)
c.3128G>T (p.Gly1043Val)
14g.91272665C>GCA390607992CCDC88Cc.6047G>C (p.Gly2016Ala)
c.1481G>C (p.Gly494Ala)
c.2275G>C
c.5939G>C (p.Gly1980Ala)
c.3128G>C (p.Gly1043Ala)
14g.91272665C>TCA390607993CCDC88Cc.6047G>A (p.Gly2016Glu)
c.1481G>A (p.Gly494Glu)
c.2275G>A
c.5939G>A (p.Gly1980Glu)
c.3128G>A (p.Gly1043Glu)
 gnomAD v4
14g.91272666C>ACA390607994CCDC88Cc.6046G>T (p.Gly2016Trp)
c.1480G>T (p.Gly494Trp)
c.2274G>T
c.5938G>T (p.Gly1980Trp)
c.3127G>T (p.Gly1043Trp)
 dbSNP
14g.91272666C=CA2154899998CCDC88Cc.6046G= (p.Gly2016=)
c.1480G= (p.Gly494=)
c.2274G=
c.5938G= (p.Gly1980=)
c.3127G= (p.Gly1043=)
14g.91272666C>GCA7308517CCDC88Cc.6046G>C (p.Gly2016Arg)
c.1480G>C (p.Gly494Arg)
c.2274G>C
c.5938G>C (p.Gly1980Arg)
c.3127G>C (p.Gly1043Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272666C>TCA7308516CCDC88Cc.6046G>A (p.Gly2016Arg)
c.1480G>A (p.Gly494Arg)
c.2274G>A
c.5938G>A (p.Gly1980Arg)
c.3127G>A (p.Gly1043Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272667delCA2626127153CCDC88Cc.6045del (p.Asp2017IlefsTer?)
c.1479del (p.Asp495IlefsTer?)
c.2273del
c.5937del (p.Asp1981IlefsTer?)
c.3126del (p.Asp1044IlefsTer?)
 gnomAD v4
14g.91272667G>ACA487828474CCDC88Cc.6045C>T (p.Gly2015=)
c.1479C>T (p.Gly493=)
c.2273C>T
c.5937C>T (p.Gly1979=)
c.3126C>T (p.Gly1042=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272667G>CCA7308518CCDC88Cc.6045C>G (p.Gly2015=)
c.1479C>G (p.Gly493=)
c.2273C>G
c.5937C>G (p.Gly1979=)
c.3126C>G (p.Gly1042=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272667G=CA2154900003CCDC88Cc.6045C= (p.Gly2015=)
c.1479C= (p.Gly493=)
c.2273C=
c.5937C= (p.Gly1979=)
c.3126C= (p.Gly1042=)
14g.91272667G>TCA487828473CCDC88Cc.6045C>A (p.Gly2015=)
c.1479C>A (p.Gly493=)
c.2273C>A
c.5937C>A (p.Gly1979=)
c.3126C>A (p.Gly1042=)
 gnomAD v4
14g.91272668C>ACA390607995CCDC88Cc.6044G>T (p.Gly2015Val)
c.1478G>T (p.Gly493Val)
c.2272G>T
c.5936G>T (p.Gly1979Val)
c.3125G>T (p.Gly1042Val)
 gnomAD v4
14g.91272668C>GCA390607996CCDC88Cc.6044G>C (p.Gly2015Ala)
c.1478G>C (p.Gly493Ala)
c.2272G>C
c.5936G>C (p.Gly1979Ala)
c.3125G>C (p.Gly1042Ala)
14g.91272668C>TCA390607997CCDC88Cc.6044G>A (p.Gly2015Asp)
c.1478G>A (p.Gly493Asp)
c.2272G>A
c.5936G>A (p.Gly1979Asp)
c.3125G>A (p.Gly1042Asp)
 gnomAD v4

Number of alleles fetched