Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
14g.91272669C>ACA390607998CCDC88Cc.6043G>T (p.Gly2015Cys)
c.1477G>T (p.Gly493Cys)
c.2271G>T
c.5935G>T (p.Gly1979Cys)
c.3124G>T (p.Gly1042Cys)
 dbSNP gnomAD v4
14g.91272669C=CA2154900013CCDC88Cc.6043G= (p.Gly2015=)
c.1477G= (p.Gly493=)
c.2271G=
c.5935G= (p.Gly1979=)
c.3124G= (p.Gly1042=)
14g.91272669C>GCA390607999CCDC88Cc.6043G>C (p.Gly2015Arg)
c.1477G>C (p.Gly493Arg)
c.2271G>C
c.5935G>C (p.Gly1979Arg)
c.3124G>C (p.Gly1042Arg)
14g.91272669C>TCA7308519CCDC88Cc.6043G>A (p.Gly2015Ser)
c.1477G>A (p.Gly493Ser)
c.2271G>A
c.5935G>A (p.Gly1979Ser)
c.3124G>A (p.Gly1042Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272670G>ACA7308520CCDC88Cc.6042C>T (p.Pro2014=)
c.1476C>T (p.Pro492=)
c.2270C>T
c.5934C>T (p.Pro1978=)
c.3123C>T (p.Pro1041=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272670G>CCA487828478CCDC88Cc.6042C>G (p.Pro2014=)
c.1476C>G (p.Pro492=)
c.2270C>G
c.5934C>G (p.Pro1978=)
c.3123C>G (p.Pro1041=)
14g.91272670G=CA2154900017CCDC88Cc.6042C= (p.Pro2014=)
c.1476C= (p.Pro492=)
c.2270C=
c.5934C= (p.Pro1978=)
c.3123C= (p.Pro1041=)
14g.91272670G>TCA487828479CCDC88Cc.6042C>A (p.Pro2014=)
c.1476C>A (p.Pro492=)
c.2270C>A
c.5934C>A (p.Pro1978=)
c.3123C>A (p.Pro1041=)
 gnomAD v4
14g.91272671G>ACA390608002CCDC88Cc.6041C>T (p.Pro2014Leu)
c.1475C>T (p.Pro492Leu)
c.2269C>T
c.5933C>T (p.Pro1978Leu)
c.3122C>T (p.Pro1041Leu)
 gnomAD v4
14g.91272671G>CCA390608000CCDC88Cc.6041C>G (p.Pro2014Arg)
c.1475C>G (p.Pro492Arg)
c.2269C>G
c.5933C>G (p.Pro1978Arg)
c.3122C>G (p.Pro1041Arg)
 gnomAD v4
14g.91272671G>TCA390608001CCDC88Cc.6041C>A (p.Pro2014His)
c.1475C>A (p.Pro492His)
c.2269C>A
c.5933C>A (p.Pro1978His)
c.3122C>A (p.Pro1041His)

Number of alleles fetched