Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91272584C= | CA2154899866 | CCDC88C | c.*41G= (n.*41G=) c.2356G= | |
14 | g.91272584C>T | CA7308493 | CCDC88C | c.*41G>A (n.*41G>A) c.2356G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272585G>A | CA7308495 | CCDC88C | c.*40C>T (n.*40C>T) c.2355C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272585G= | CA2154899868 | CCDC88C | c.*40C= (n.*40C=) c.2355C= | |
14 | g.91272585G>T | CA7308494 | CCDC88C | c.*40C>A (n.*40C>A) c.2355C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272586T>C | CA7308496 | CCDC88C | c.*39A>G (n.*39A>G) c.2354A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272586T= | CA2154899871 | CCDC88C | c.*39A= (n.*39A=) c.2354A= | |
14 | g.91272587C>A | CA2626127076 | CCDC88C | c.*38G>T (n.*38G>T) c.2353G>T | gnomAD v4 |
14 | g.91272587C= | CA2154899872 | CCDC88C | c.*38G= (n.*38G=) c.2353G= | |
14 | g.91272587C>G | CA2154899874 | CCDC88C | c.*38G>C (n.*38G>C) c.2353G>C | dbSNP |
14 | g.91272589G>C | CA2626127077 | CCDC88C | c.*36C>G (n.*36C>G) c.2351C>G | gnomAD v4 |
14 | g.91272589G>T | CA2626127078 | CCDC88C | c.*36C>A (n.*36C>A) c.2351C>A | gnomAD v4 |
14 | g.91272591A= | CA2154899876 | CCDC88C | c.*34T= (n.*34T=) c.2349T= | |
14 | g.91272591A>G | CA7308497 | CCDC88C | c.*34T>C (n.*34T>C) c.2349T>C | dbSNP ExAC gnomAD v2 |
14 | g.91272592G>A | CA7308498 | CCDC88C | c.*33C>T (n.*33C>T) c.2348C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272592G>C | CA616112282 | CCDC88C | c.*33C>G (n.*33C>G) c.2348C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272592G= | CA2154899879 | CCDC88C | c.*33C= (n.*33C=) c.2348C= | |
14 | g.91272592G>T | CA2626127079 | CCDC88C | c.*33C>A (n.*33C>A) c.2348C>A | gnomAD v4 |
14 | g.91272593T>C | CA7308499 | CCDC88C | c.*32A>G (n.*32A>G) c.2347A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272593T= | CA2154899884 | CCDC88C | c.*32A= (n.*32A=) c.2347A= | |
14 | g.91272594T>C | CA2802580913 | CCDC88C | c.*31A>G (n.*31A>G) c.2346A>G | |
14 | g.91272595T>C | CA2626127080 | CCDC88C | c.*30A>G (n.*30A>G) c.2345A>G | gnomAD v4 |
14 | g.91272596T>C | CA7308500 | CCDC88C | c.*29A>G (n.*29A>G) c.2344A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272596T= | CA2154899886 | CCDC88C | c.*29A= (n.*29A=) c.2344A= | |
14 | g.91272597C>A | CA2626127082 | CCDC88C | c.*28G>T (n.*28G>T) c.2343G>T | gnomAD v4 |
14 | g.91272597C= | CA2154899888 | CCDC88C | c.*28G= (n.*28G=) c.2343G= | |
14 | g.91272597C>G | CA709860031 | CCDC88C | c.*28G>C (n.*28G>C) c.2343G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272597C>T | CA616112283 | CCDC88C | c.*28G>A (n.*28G>A) c.2343G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272598A>G | CA2802580914 | CCDC88C | c.*27T>C (n.*27T>C) c.2342T>C | |
14 | g.91272599G>A | CA616112284 | CCDC88C | c.*26C>T (n.*26C>T) c.2341C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272599G>C | CA2626127084 | CCDC88C | c.*26C>G (n.*26C>G) c.2341C>G | gnomAD v4 |
14 | g.91272599G= | CA2154899891 | CCDC88C | c.*26C= (n.*26C=) c.2341C= | |
14 | g.91272599G>T | CA2626127085 | CCDC88C | c.*26C>A (n.*26C>A) c.2341C>A | gnomAD v4 |
14 | g.91272600G>T | CA2626127087 | CCDC88C | c.*25C>A (n.*25C>A) c.2340C>A | gnomAD v4 |
14 | g.91272601T>A | CA2626127088 | CCDC88C | c.*24A>T (n.*24A>T) c.2339A>T | gnomAD v4 |
14 | g.91272604G>C | CA7308501 | CCDC88C | c.*21C>G (n.*21C>G) c.2336C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272604G= | CA2154899892 | CCDC88C | c.*21C= (n.*21C=) c.2336C= | |
14 | g.91272604G>T | CA2154899894 | CCDC88C | c.*21C>A (n.*21C>A) c.2336C>A | dbSNP gnomAD v4 |
14 | g.91272605C>A | CA7308503 | CCDC88C | c.*20G>T (n.*20G>T) c.2335G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272605C= | CA2154899895 | CCDC88C | c.*20G= (n.*20G=) c.2335G= | |
14 | g.91272605C>T | CA7308502 | CCDC88C | c.*20G>A (n.*20G>A) c.2335G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272606G>A | CA265516905 | CCDC88C | c.*19C>T (n.*19C>T) c.2334C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272606G= | CA2154899898 | CCDC88C | c.*19C= (n.*19C=) c.2334C= | |
14 | g.91272606G>T | CA2626127092 | CCDC88C | c.*19C>A (n.*19C>A) c.2334C>A | gnomAD v4 |
14 | g.91272606_91272607delinsGA | CA2154899900 | CCDC88C | c.*18_*19delinsTC (n.*18_*19delinsTC) c.2333_2334delinsTC | |
14 | g.91272607del | CA965920741 | CCDC88C | c.*18del (n.*18del) c.2333del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272607A>G | CA2626127093 | CCDC88C | c.*18T>C (n.*18T>C) c.2333T>C | gnomAD v4 |
14 | g.91272608G>A | CA2626127095 | CCDC88C | c.*17C>T (n.*17C>T) c.2332C>T | gnomAD v4 |
14 | g.91272608G>T | CA2626127096 | CCDC88C | c.*17C>A (n.*17C>A) c.2332C>A | gnomAD v4 |
14 | g.91272609C>A | CA2626127098 | CCDC88C | c.*16G>T (n.*16G>T) c.2331G>T | gnomAD v4 |
14 | g.91272609C>T | CA2841354261 | CCDC88C | c.*16G>A (n.*16G>A) c.2331G>A | |
14 | g.91272610T>C | CA2626127099 | CCDC88C | c.*15A>G (n.*15A>G) c.2330A>G | gnomAD v4 |
14 | g.91272611C>A | CA2626127100 | CCDC88C | c.*14G>T (n.*14G>T) c.2329G>T | gnomAD v4 |
14 | g.91272612A>C | CA2575602865 | CCDC88C | c.*13T>G (n.*13T>G) c.2328T>G | gnomAD v4 |
14 | g.91272612A>G | CA2575602866 | CCDC88C | c.*13T>C (n.*13T>C) c.2328T>C | |
14 | g.91272613A>T | CA2626127101 | CCDC88C | c.*12T>A (n.*12T>A) c.2327T>A | gnomAD v4 |
14 | g.91272614C>A | CA2626127102 | CCDC88C | c.*11G>T (n.*11G>T) c.2326G>T | gnomAD v4 |
14 | g.91272614C>T | CA2626127103 | CCDC88C | c.*11G>A (n.*11G>A) c.2326G>A | gnomAD v4 |
14 | g.91272615C>A | CA2626127105 | CCDC88C | c.*10G>T (n.*10G>T) c.2325G>T | gnomAD v4 |
14 | g.91272615C= | CA2154899901 | CCDC88C | c.*10G= (n.*10G=) c.2325G= | |
14 | g.91272615C>G | CA709860038 | CCDC88C | c.*10G>C (n.*10G>C) c.2325G>C | dbSNP |
14 | g.91272615C>T | CA2626127106 | CCDC88C | c.*10G>A (n.*10G>A) c.2325G>A | gnomAD v4 |
14 | g.91272616A= | CA2154899903 | CCDC88C | c.*9T= (n.*9T=) c.2324T= | |
14 | g.91272616A>G | CA7308504 | CCDC88C | c.*9T>C (n.*9T>C) c.2324T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272617C= | CA2154899908 | CCDC88C | c.*8G= (n.*8G=) c.2323G= | |
14 | g.91272617C>T | CA7308505 | CCDC88C | c.*8G>A (n.*8G>A) c.2323G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272617_91272618delinsCG | CA2154899907 | CCDC88C | c.*7_*8delinsCG (n.*7_*8delinsCG) c.2322_2323delinsCG | |
14 | g.91272618del | CA7308506 | CCDC88C | c.*7del (n.*7del) c.2322del | dbSNP ExAC gnomAD v2 |
14 | g.91272618G>A | CA616112267 | CCDC88C | c.*7C>T (n.*7C>T) c.2322C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272618G>C | CA616112268 | CCDC88C | c.*7C>G (n.*7C>G) c.2322C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272618G= | CA2154899916 | CCDC88C | c.*7C= (n.*7C=) c.2322C= | |
14 | g.91272618G>T | CA2626127108 | CCDC88C | c.*7C>A (n.*7C>A) c.2322C>A | gnomAD v4 |
14 | g.91272618_91272622delinsGAGAC | CA2154899913 | CCDC88C | c.*3_*7delinsGTCTC (n.*3_*7delinsGTCTC) c.2318_2322delinsGTCTC | |
14 | g.91272619A>C | CA2575602867 | CCDC88C | c.*6T>G (n.*6T>G) c.2321T>G | |
14 | g.91272619A>G | CA2626127111 | CCDC88C | c.*6T>C (n.*6T>C) c.2321T>C | gnomAD v4 |
14 | g.91272619dup | CA2626127110 | CCDC88C | c.*6dup (n.*6dup) c.2321dup | gnomAD v4 |
14 | g.91272621_91272624del | CA965920747 | CCDC88C | c.*3_*6del (n.*3_*6del) c.2318_2321del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272620G>A | CA2626127113 | CCDC88C | c.*5C>T (n.*5C>T) c.2320C>T | gnomAD v4 |
14 | g.91272620G>T | CA2626127114 | CCDC88C | c.*5C>A (n.*5C>A) c.2320C>A | gnomAD v4 |
14 | g.91272622_91272623del | CA2626127115 | CCDC88C | c.*3_*4del (n.*3_*4del) c.2318_2319del | gnomAD v4 |
14 | g.91272622C>A | CA2626127116 | CCDC88C | c.*3G>T (n.*3G>T) c.2318G>T | gnomAD v4 |
14 | g.91272622C>G | CA2626127117 | CCDC88C | c.*3G>C (n.*3G>C) c.2318G>C | gnomAD v4 |
14 | g.91272622C>T | CA2626127118 | CCDC88C | c.*3G>A (n.*3G>A) c.2318G>A | gnomAD v4 |
14 | g.91272624G>A | CA2626127120 | CCDC88C | c.*1C>T (n.*1C>T) c.2316C>T | gnomAD v4 |
14 | g.91272624G>T | CA2626127121 | CCDC88C | c.*1C>A (n.*1C>A) c.2316C>A | gnomAD v4 |
14 | g.91272625T>A | CA390607903 | CCDC88C | c.6087A>T (p.Ter2029Cys) c.1521A>T (p.Ter507Cys) c.2315A>T c.5979A>T (p.Ter1993Cys) c.3168A>T (p.Ter1056Cys) | |
14 | g.91272625T>C | CA390607902 | CCDC88C | c.6087A>G (p.Ter2029Trp) c.1521A>G (p.Ter507Trp) c.2315A>G c.5979A>G (p.Ter1993Trp) c.3168A>G (p.Ter1056Trp) | |
14 | g.91272625T>G | CA390607901 | CCDC88C | c.6087A>C (p.Ter2029Cys) c.1521A>C (p.Ter507Cys) c.2315A>C c.5979A>C (p.Ter1993Cys) c.3168A>C (p.Ter1056Cys) | gnomAD v4 |
14 | g.91272625_91272627delinsTCA | CA2154899919 | CCDC88C | c.6085_6087delinsTGA (p.Ter2029=) c.1519_1521delinsTGA (p.Ter507=) c.2313_2315delinsTGA c.5977_5979delinsTGA (p.Ter1993=) c.3166_3168delinsTGA (p.Ter1056=) | |
14 | g.91272626C>A | CA390607904 | CCDC88C | c.6086G>T (p.Ter2029Leu) c.1520G>T (p.Ter507Leu) c.2314G>T c.5978G>T (p.Ter1993Leu) c.3167G>T (p.Ter1056Leu) | |
14 | g.91272626C>G | CA390607905 | CCDC88C | c.6086G>C (p.Ter2029Ser) c.1520G>C (p.Ter507Ser) c.2314G>C c.5978G>C (p.Ter1993Ser) c.3167G>C (p.Ter1056Ser) | |
14 | g.91272626C>T | CA487828413 | CCDC88C | c.6086G>A (p.Ter2029=) c.1520G>A (p.Ter507=) c.2314G>A c.5978G>A (p.Ter1993=) c.3167G>A (p.Ter1056=) | |
14 | g.91272632_91272633del | CA919477247 | CCDC88C | c.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 |
14 | g.91272627A= | CA2154899925 | CCDC88C | c.6085T= (p.Ter2029=) c.1519T= (p.Ter507=) c.2313T= c.5977T= (p.Ter1993=) c.3166T= (p.Ter1056=) | |
14 | g.91272627A>C | CA390607906 | CCDC88C | c.6085T>G (p.Ter2029Gly) c.1519T>G (p.Ter507Gly) c.2313T>G c.5977T>G (p.Ter1993Gly) c.3166T>G (p.Ter1056Gly) | |
14 | g.91272627A>G | CA390607907 | CCDC88C | c.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 |
14 | g.91272627A>T | CA390607908 | CCDC88C | c.6085T>A (p.Ter2029Arg) c.1519T>A (p.Ter507Arg) c.2313T>A c.5977T>A (p.Ter1993Arg) c.3166T>A (p.Ter1056Arg) | |
14 | g.91272628C>A | CA487828417 | CCDC88C | c.6084G>T (p.Val2028=) c.1518G>T (p.Val506=) c.2312G>T c.5976G>T (p.Val1992=) c.3165G>T (p.Val1055=) | gnomAD v4 |
14 | g.91272628C= | CA2154899927 | CCDC88C | c.6084G= (p.Val2028=) c.1518G= (p.Val506=) c.2312G= c.5976G= (p.Val1992=) c.3165G= (p.Val1055=) | |
14 | g.91272628C>G | CA7308507 | CCDC88C | c.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 |
14 | g.91272628C>T | CA487828416 | CCDC88C | c.6084G>A (p.Val2028=) c.1518G>A (p.Val506=) c.2312G>A c.5976G>A (p.Val1992=) c.3165G>A (p.Val1055=) | |
14 | g.91272629A>C | CA390607909 | CCDC88C | c.6083T>G (p.Val2028Gly) c.1517T>G (p.Val506Gly) c.2311T>G c.5975T>G (p.Val1992Gly) c.3164T>G (p.Val1055Gly) | |
14 | g.91272629A>G | CA390607910 | CCDC88C | c.6083T>C (p.Val2028Ala) c.1517T>C (p.Val506Ala) c.2311T>C c.5975T>C (p.Val1992Ala) c.3164T>C (p.Val1055Ala) | gnomAD v4 |
14 | g.91272629A>T | CA390607911 | CCDC88C | c.6083T>A (p.Val2028Glu) c.1517T>A (p.Val506Glu) c.2311T>A c.5975T>A (p.Val1992Glu) c.3164T>A (p.Val1055Glu) | |
14 | g.91272630C>A | CA390607912 | CCDC88C | c.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 |
14 | g.91272630C= | CA2154899929 | CCDC88C | c.6082G= (p.Val2028=) c.1516G= (p.Val506=) c.2310G= c.5974G= (p.Val1992=) c.3163G= (p.Val1055=) | |
14 | g.91272630C>G | CA390607913 | CCDC88C | c.6082G>C (p.Val2028Leu) c.1516G>C (p.Val506Leu) c.2310G>C c.5974G>C (p.Val1992Leu) c.3163G>C (p.Val1055Leu) | |
14 | g.91272630C>T | CA390607914 | CCDC88C | c.6082G>A (p.Val2028Met) c.1516G>A (p.Val506Met) c.2310G>A c.5974G>A (p.Val1992Met) c.3163G>A (p.Val1055Met) | gnomAD v4 |
14 | g.91272631A= | CA2154899933 | CCDC88C | c.6081T= (p.Cys2027=) c.1515T= (p.Cys505=) c.2309T= c.5973T= (p.Cys1991=) c.3162T= (p.Cys1054=) | |
14 | g.91272631A>C | CA390607916 | CCDC88C | c.6081T>G (p.Cys2027Trp) c.1515T>G (p.Cys505Trp) c.2309T>G c.5973T>G (p.Cys1991Trp) c.3162T>G (p.Cys1054Trp) | dbSNP |
14 | g.91272631A>G | CA487828422 | CCDC88C | c.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 |
14 | g.91272631A>T | CA390607915 | CCDC88C | c.6081T>A (p.Cys2027Ter) c.1515T>A (p.Cys505Ter) c.2309T>A c.5973T>A (p.Cys1991Ter) c.3162T>A (p.Cys1054Ter) | |
14 | g.91272632C>A | CA390607917 | CCDC88C | c.6080G>T (p.Cys2027Phe) c.1514G>T (p.Cys505Phe) c.2308G>T c.5972G>T (p.Cys1991Phe) c.3161G>T (p.Cys1054Phe) | dbSNP |
14 | g.91272632C= | CA2154899936 | CCDC88C | c.6080G= (p.Cys2027=) c.1514G= (p.Cys505=) c.2308G= c.5972G= (p.Cys1991=) c.3161G= (p.Cys1054=) | |
14 | g.91272632C>G | CA390607918 | CCDC88C | c.6080G>C (p.Cys2027Ser) c.1514G>C (p.Cys505Ser) c.2308G>C c.5972G>C (p.Cys1991Ser) c.3161G>C (p.Cys1054Ser) | dbSNP |
14 | g.91272632C>T | CA390607919 | CCDC88C | c.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 |
14 | g.91272633A= | CA2154899939 | CCDC88C | c.6079T= (p.Cys2027=) c.1513T= (p.Cys505=) c.2307T= c.5971T= (p.Cys1991=) c.3160T= (p.Cys1054=) | |
14 | g.91272633A>C | CA390607920 | CCDC88C | c.6079T>G (p.Cys2027Gly) c.1513T>G (p.Cys505Gly) c.2307T>G c.5971T>G (p.Cys1991Gly) c.3160T>G (p.Cys1054Gly) | |
14 | g.91272633A>G | CA7308508 | CCDC88C | c.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 |
14 | g.91272633A>T | CA390607921 | CCDC88C | c.6079T>A (p.Cys2027Ser) c.1513T>A (p.Cys505Ser) c.2307T>A c.5971T>A (p.Cys1991Ser) c.3160T>A (p.Cys1054Ser) | |
14 | g.91272634G>A | CA7308509 | CCDC88C | c.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 |
14 | g.91272634G>C | CA487828428 | CCDC88C | c.6078C>G (p.Gly2026=) c.1512C>G (p.Gly504=) c.2306C>G c.5970C>G (p.Gly1990=) c.3159C>G (p.Gly1053=) | |
14 | g.91272634G= | CA2154899944 | CCDC88C | c.6078C= (p.Gly2026=) c.1512C= (p.Gly504=) c.2306C= c.5970C= (p.Gly1990=) c.3159C= (p.Gly1053=) | |
14 | g.91272634G>T | CA487828429 | CCDC88C | c.6078C>A (p.Gly2026=) c.1512C>A (p.Gly504=) c.2306C>A c.5970C>A (p.Gly1990=) c.3159C>A (p.Gly1053=) | |
14 | g.91272635C>A | CA390607922 | CCDC88C | c.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 |
14 | g.91272635C= | CA2154899946 | CCDC88C | c.6077G= (p.Gly2026=) c.1511G= (p.Gly504=) c.2305G= c.5969G= (p.Gly1990=) c.3158G= (p.Gly1053=) | |
14 | g.91272635C>G | CA390607923 | CCDC88C | c.6077G>C (p.Gly2026Ala) c.1511G>C (p.Gly504Ala) c.2305G>C c.5969G>C (p.Gly1990Ala) c.3158G>C (p.Gly1053Ala) | |
14 | g.91272635C>T | CA390607924 | CCDC88C | c.6077G>A (p.Gly2026Asp) c.1511G>A (p.Gly504Asp) c.2305G>A c.5969G>A (p.Gly1990Asp) c.3158G>A (p.Gly1053Asp) | gnomAD v4 |
14 | g.91272636C>A | CA390607925 | CCDC88C | c.6076G>T (p.Gly2026Cys) c.1510G>T (p.Gly504Cys) c.2304G>T c.5968G>T (p.Gly1990Cys) c.3157G>T (p.Gly1053Cys) | gnomAD v4 |
14 | g.91272636C= | CA2154899949 | CCDC88C | c.6076G= (p.Gly2026=) c.1510G= (p.Gly504=) c.2304G= c.5968G= (p.Gly1990=) c.3157G= (p.Gly1053=) | |
14 | g.91272636C>G | CA390607926 | CCDC88C | c.6076G>C (p.Gly2026Arg) c.1510G>C (p.Gly504Arg) c.2304G>C c.5968G>C (p.Gly1990Arg) c.3157G>C (p.Gly1053Arg) | |
14 | g.91272636C>T | CA7308510 | CCDC88C | c.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 |
14 | g.91272637G>A | CA7308511 | CCDC88C | c.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 |
14 | g.91272637G>C | CA390607928 | CCDC88C | c.6075C>G (p.Tyr2025Ter) c.1509C>G (p.Tyr503Ter) c.2303C>G c.5967C>G (p.Tyr1989Ter) c.3156C>G (p.Tyr1052Ter) | gnomAD v4 |
14 | g.91272637G= | CA2154899953 | CCDC88C | c.6075C= (p.Tyr2025=) c.1509C= (p.Tyr503=) c.2303C= c.5967C= (p.Tyr1989=) c.3156C= (p.Tyr1052=) | |
14 | g.91272637G>T | CA390607927 | CCDC88C | c.6075C>A (p.Tyr2025Ter) c.1509C>A (p.Tyr503Ter) c.2303C>A c.5967C>A (p.Tyr1989Ter) c.3156C>A (p.Tyr1052Ter) | gnomAD v4 |
14 | g.91272638T>A | CA390607931 | CCDC88C | c.6074A>T (p.Tyr2025Phe) c.1508A>T (p.Tyr503Phe) c.2302A>T c.5966A>T (p.Tyr1989Phe) c.3155A>T (p.Tyr1052Phe) | |
14 | g.91272638T>C | CA390607929 | CCDC88C | c.6074A>G (p.Tyr2025Cys) c.1508A>G (p.Tyr503Cys) c.2302A>G c.5966A>G (p.Tyr1989Cys) c.3155A>G (p.Tyr1052Cys) | |
14 | g.91272638T>G | CA390607930 | CCDC88C | c.6074A>C (p.Tyr2025Ser) c.1508A>C (p.Tyr503Ser) c.2302A>C c.5966A>C (p.Tyr1989Ser) c.3155A>C (p.Tyr1052Ser) | |
14 | g.91272639A>C | CA390607932 | CCDC88C | c.6073T>G (p.Tyr2025Asp) c.1507T>G (p.Tyr503Asp) c.2301T>G c.5965T>G (p.Tyr1989Asp) c.3154T>G (p.Tyr1052Asp) | |
14 | g.91272639A>G | CA390607933 | CCDC88C | c.6073T>C (p.Tyr2025His) c.1507T>C (p.Tyr503His) c.2301T>C c.5965T>C (p.Tyr1989His) c.3154T>C (p.Tyr1052His) | |
14 | g.91272639A>T | CA390607934 | CCDC88C | c.6073T>A (p.Tyr2025Asn) c.1507T>A (p.Tyr503Asn) c.2301T>A c.5965T>A (p.Tyr1989Asn) c.3154T>A (p.Tyr1052Asn) | |
14 | g.91272640C>A | CA390607935 | CCDC88C | c.6072G>T (p.Glu2024Asp) c.1506G>T (p.Glu502Asp) c.2300G>T c.5964G>T (p.Glu1988Asp) c.3153G>T (p.Glu1051Asp) | |
14 | g.91272640C= | CA2154899956 | CCDC88C | c.6072G= (p.Glu2024=) c.1506G= (p.Glu502=) c.2300G= c.5964G= (p.Glu1988=) c.3153G= (p.Glu1051=) | |
14 | g.91272640C>G | CA390607936 | CCDC88C | c.6072G>C (p.Glu2024Asp) c.1506G>C (p.Glu502Asp) c.2300G>C c.5964G>C (p.Glu1988Asp) c.3153G>C (p.Glu1051Asp) | |
14 | g.91272640C>T | CA487828443 | CCDC88C | c.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 |
14 | g.91272640dup | CA2626127136 | CCDC88C | c.6072dup (p.Tyr2025ValfsTer15) c.1506dup (p.Tyr503ValfsTer15) c.2300dup c.5964dup (p.Tyr1989ValfsTer15) c.3153dup (p.Tyr1052ValfsTer15) | gnomAD v4 |
14 | g.91272641T>A | CA390607937 | CCDC88C | c.6071A>T (p.Glu2024Val) c.1505A>T (p.Glu502Val) c.2299A>T c.5963A>T (p.Glu1988Val) c.3152A>T (p.Glu1051Val) | |
14 | g.91272641T>C | CA390607938 | CCDC88C | c.6071A>G (p.Glu2024Gly) c.1505A>G (p.Glu502Gly) c.2299A>G c.5963A>G (p.Glu1988Gly) c.3152A>G (p.Glu1051Gly) | |
14 | g.91272641T>G | CA390607939 | CCDC88C | c.6071A>C (p.Glu2024Ala) c.1505A>C (p.Glu502Ala) c.2299A>C c.5963A>C (p.Glu1988Ala) c.3152A>C (p.Glu1051Ala) | |
14 | g.91272641_91272642insAT | CA2154899959 | CCDC88C | c.6071_6072insTA (p.Glu2024AspfsTer?) c.1505_1506insTA (p.Glu502AspfsTer?) c.2299_2300insTA c.5963_5964insTA (p.Glu1988AspfsTer?) c.3152_3153insTA (p.Glu1051AspfsTer?) | dbSNP |
14 | g.91272642C>A | CA390607940 | CCDC88C | c.6070G>T (p.Glu2024Ter) c.1504G>T (p.Glu502Ter) c.2298G>T c.5962G>T (p.Glu1988Ter) c.3151G>T (p.Glu1051Ter) | |
14 | g.91272642C>G | CA390607941 | CCDC88C | c.6070G>C (p.Glu2024Gln) c.1504G>C (p.Glu502Gln) c.2298G>C c.5962G>C (p.Glu1988Gln) c.3151G>C (p.Glu1051Gln) | |
14 | g.91272642C>T | CA390607942 | CCDC88C | c.6070G>A (p.Glu2024Lys) c.1504G>A (p.Glu502Lys) c.2298G>A c.5962G>A (p.Glu1988Lys) c.3151G>A (p.Glu1051Lys) | |
14 | g.91272643A= | CA2154899961 | CCDC88C | c.6069T= (p.Tyr2023=) c.1503T= (p.Tyr501=) c.2297T= c.5961T= (p.Tyr1987=) c.3150T= (p.Tyr1050=) | |
14 | g.91272643A>C | CA390607943 | CCDC88C | c.6069T>G (p.Tyr2023Ter) c.1503T>G (p.Tyr501Ter) c.2297T>G c.5961T>G (p.Tyr1987Ter) c.3150T>G (p.Tyr1050Ter) | |
14 | g.91272643A>G | CA487828445 | CCDC88C | c.6069T>C (p.Tyr2023=) c.1503T>C (p.Tyr501=) c.2297T>C c.5961T>C (p.Tyr1987=) c.3150T>C (p.Tyr1050=) | dbSNP |
14 | g.91272643A>T | CA390607944 | CCDC88C | c.6069T>A (p.Tyr2023Ter) c.1503T>A (p.Tyr501Ter) c.2297T>A c.5961T>A (p.Tyr1987Ter) c.3150T>A (p.Tyr1050Ter) | |
14 | g.91272644T>A | CA390607945 | CCDC88C | c.6068A>T (p.Tyr2023Phe) c.1502A>T (p.Tyr501Phe) c.2296A>T c.5960A>T (p.Tyr1987Phe) c.3149A>T (p.Tyr1050Phe) | |
14 | g.91272644T>C | CA390607946 | CCDC88C | c.6068A>G (p.Tyr2023Cys) c.1502A>G (p.Tyr501Cys) c.2296A>G c.5960A>G (p.Tyr1987Cys) c.3149A>G (p.Tyr1050Cys) | gnomAD v4 |
14 | g.91272644T>G | CA390607947 | CCDC88C | c.6068A>C (p.Tyr2023Ser) c.1502A>C (p.Tyr501Ser) c.2296A>C c.5960A>C (p.Tyr1987Ser) c.3149A>C (p.Tyr1050Ser) | |
14 | g.91272645A>C | CA390607948 | CCDC88C | c.6067T>G (p.Tyr2023Asp) c.1501T>G (p.Tyr501Asp) c.2295T>G c.5959T>G (p.Tyr1987Asp) c.3148T>G (p.Tyr1050Asp) | |
14 | g.91272645A>G | CA390607949 | CCDC88C | c.6067T>C (p.Tyr2023His) c.1501T>C (p.Tyr501His) c.2295T>C c.5959T>C (p.Tyr1987His) c.3148T>C (p.Tyr1050His) | gnomAD v4 |
14 | g.91272645A>T | CA390607950 | CCDC88C | c.6067T>A (p.Tyr2023Asn) c.1501T>A (p.Tyr501Asn) c.2295T>A c.5959T>A (p.Tyr1987Asn) c.3148T>A (p.Tyr1050Asn) | |
14 | g.91272646C>A | CA390607951 | CCDC88C | c.6066G>T (p.Trp2022Cys) c.1500G>T (p.Trp500Cys) c.2294G>T c.5958G>T (p.Trp1986Cys) c.3147G>T (p.Trp1049Cys) | |
14 | g.91272646C>G | CA390607952 | CCDC88C | c.6066G>C (p.Trp2022Cys) c.1500G>C (p.Trp500Cys) c.2294G>C c.5958G>C (p.Trp1986Cys) c.3147G>C (p.Trp1049Cys) | |
14 | g.91272646C>T | CA390607953 | CCDC88C | c.6066G>A (p.Trp2022Ter) c.1500G>A (p.Trp500Ter) c.2294G>A c.5958G>A (p.Trp1986Ter) c.3147G>A (p.Trp1049Ter) | gnomAD v4 |
14 | g.91272647C>A | CA390607954 | CCDC88C | c.6065G>T (p.Trp2022Leu) c.1499G>T (p.Trp500Leu) c.2293G>T c.5957G>T (p.Trp1986Leu) c.3146G>T (p.Trp1049Leu) | |
14 | g.91272647C>G | CA390607955 | CCDC88C | c.6065G>C (p.Trp2022Ser) c.1499G>C (p.Trp500Ser) c.2293G>C c.5957G>C (p.Trp1986Ser) c.3146G>C (p.Trp1049Ser) | |
14 | g.91272647C>T | CA390607956 | CCDC88C | c.6065G>A (p.Trp2022Ter) c.1499G>A (p.Trp500Ter) c.2293G>A c.5957G>A (p.Trp1986Ter) c.3146G>A (p.Trp1049Ter) | gnomAD v4 |
14 | g.91272648A>C | CA390607958 | CCDC88C | c.6064T>G (p.Trp2022Gly) c.1498T>G (p.Trp500Gly) c.2292T>G c.5956T>G (p.Trp1986Gly) c.3145T>G (p.Trp1049Gly) | |
14 | g.91272648A>G | CA390607959 | CCDC88C | c.6064T>C (p.Trp2022Arg) c.1498T>C (p.Trp500Arg) c.2292T>C c.5956T>C (p.Trp1986Arg) c.3145T>C (p.Trp1049Arg) | |
14 | g.91272648A>T | CA390607957 | CCDC88C | c.6064T>A (p.Trp2022Arg) c.1498T>A (p.Trp500Arg) c.2292T>A c.5956T>A (p.Trp1986Arg) c.3145T>A (p.Trp1049Arg) | |
14 | g.91272649C>A | CA487828450 | CCDC88C | c.6063G>T (p.Val2021=) c.1497G>T (p.Val499=) c.2291G>T c.5955G>T (p.Val1985=) c.3144G>T (p.Val1048=) | gnomAD v4 |
14 | g.91272649C>G | CA487828451 | CCDC88C | c.6063G>C (p.Val2021=) c.1497G>C (p.Val499=) c.2291G>C c.5955G>C (p.Val1985=) c.3144G>C (p.Val1048=) | |
14 | g.91272649C>T | CA487828452 | CCDC88C | c.6063G>A (p.Val2021=) c.1497G>A (p.Val499=) c.2291G>A c.5955G>A (p.Val1985=) c.3144G>A (p.Val1048=) | gnomAD v4 |
14 | g.91272650A= | CA2154899964 | CCDC88C | c.6062T= (p.Val2021=) c.1496T= (p.Val499=) c.2290T= c.5954T= (p.Val1985=) c.3143T= (p.Val1048=) | |
14 | g.91272650A>C | CA390607960 | CCDC88C | c.6062T>G (p.Val2021Gly) c.1496T>G (p.Val499Gly) c.2290T>G c.5954T>G (p.Val1985Gly) c.3143T>G (p.Val1048Gly) | |
14 | g.91272650A>G | CA265516934 | CCDC88C | c.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 |
14 | g.91272650A>T | CA390607961 | CCDC88C | c.6062T>A (p.Val2021Glu) c.1496T>A (p.Val499Glu) c.2290T>A c.5954T>A (p.Val1985Glu) c.3143T>A (p.Val1048Glu) | |
14 | g.91272651C>A | CA390607962 | CCDC88C | c.6061G>T (p.Val2021Leu) c.1495G>T (p.Val499Leu) c.2289G>T c.5953G>T (p.Val1985Leu) c.3142G>T (p.Val1048Leu) | gnomAD v4 |
14 | g.91272651C= | CA2154899968 | CCDC88C | c.6061G= (p.Val2021=) c.1495G= (p.Val499=) c.2289G= c.5953G= (p.Val1985=) c.3142G= (p.Val1048=) | |
14 | g.91272651C>G | CA390607963 | CCDC88C | c.6061G>C (p.Val2021Leu) c.1495G>C (p.Val499Leu) c.2289G>C c.5953G>C (p.Val1985Leu) c.3142G>C (p.Val1048Leu) | dbSNP |
14 | g.91272651C>T | CA7308512 | CCDC88C | c.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 |
14 | g.91272652G>A | CA7308513 | CCDC88C | c.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 |
14 | g.91272652G>C | CA487828455 | CCDC88C | c.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 |
14 | g.91272652G= | CA2154899971 | CCDC88C | c.6060C= (p.Thr2020=) c.1494C= (p.Thr498=) c.2288C= c.5952C= (p.Thr1984=) c.3141C= (p.Thr1047=) | |
14 | g.91272652G>T | CA487828456 | CCDC88C | c.6060C>A (p.Thr2020=) c.1494C>A (p.Thr498=) c.2288C>A c.5952C>A (p.Thr1984=) c.3141C>A (p.Thr1047=) | |
14 | g.91272652_91272653delinsAA | CA645594357 | CCDC88C | c.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 |
14 | g.91272653G>A | CA390607964 | CCDC88C | c.6059C>T (p.Thr2020Ile) c.1493C>T (p.Thr498Ile) c.2287C>T c.5951C>T (p.Thr1984Ile) c.3140C>T (p.Thr1047Ile) | |
14 | g.91272653G>C | CA390607966 | CCDC88C | c.6059C>G (p.Thr2020Ser) c.1493C>G (p.Thr498Ser) c.2287C>G c.5951C>G (p.Thr1984Ser) c.3140C>G (p.Thr1047Ser) | |
14 | g.91272653G>T | CA390607965 | CCDC88C | c.6059C>A (p.Thr2020Asn) c.1493C>A (p.Thr498Asn) c.2287C>A c.5951C>A (p.Thr1984Asn) c.3140C>A (p.Thr1047Asn) | gnomAD v4 |
14 | g.91272654T>A | CA390607967 | CCDC88C | c.6058A>T (p.Thr2020Ser) c.1492A>T (p.Thr498Ser) c.2286A>T c.5950A>T (p.Thr1984Ser) c.3139A>T (p.Thr1047Ser) | |
14 | g.91272654T>C | CA390607968 | CCDC88C | c.6058A>G (p.Thr2020Ala) c.1492A>G (p.Thr498Ala) c.2286A>G c.5950A>G (p.Thr1984Ala) c.3139A>G (p.Thr1047Ala) | |
14 | g.91272654T>G | CA390607969 | CCDC88C | c.6058A>C (p.Thr2020Pro) c.1492A>C (p.Thr498Pro) c.2286A>C c.5950A>C (p.Thr1984Pro) c.3139A>C (p.Thr1047Pro) | |
14 | g.91272655C>A | CA390607970 | CCDC88C | c.6057G>T (p.Gln2019His) c.1491G>T (p.Gln497His) c.2285G>T c.5949G>T (p.Gln1983His) c.3138G>T (p.Gln1046His) | gnomAD v4 |
14 | g.91272655C>G | CA390607971 | CCDC88C | c.6057G>C (p.Gln2019His) c.1491G>C (p.Gln497His) c.2285G>C c.5949G>C (p.Gln1983His) c.3138G>C (p.Gln1046His) | |
14 | g.91272655C>T | CA487828458 | CCDC88C | c.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 |
14 | g.91272656T>A | CA390607972 | CCDC88C | c.6056A>T (p.Gln2019Leu) c.1490A>T (p.Gln497Leu) c.2284A>T c.5948A>T (p.Gln1983Leu) c.3137A>T (p.Gln1046Leu) | |
14 | g.91272656T>C | CA390607974 | CCDC88C | c.6056A>G (p.Gln2019Arg) c.1490A>G (p.Gln497Arg) c.2284A>G c.5948A>G (p.Gln1983Arg) c.3137A>G (p.Gln1046Arg) | |
14 | g.91272656T>G | CA390607973 | CCDC88C | c.6056A>C (p.Gln2019Pro) c.1490A>C (p.Gln497Pro) c.2284A>C c.5948A>C (p.Gln1983Pro) c.3137A>C (p.Gln1046Pro) | |
14 | g.91272657G>A | CA390607975 | CCDC88C | c.6055C>T (p.Gln2019Ter) c.1489C>T (p.Gln497Ter) c.2283C>T c.5947C>T (p.Gln1983Ter) c.3136C>T (p.Gln1046Ter) | gnomAD v4 |
14 | g.91272657G>C | CA390607976 | CCDC88C | c.6055C>G (p.Gln2019Glu) c.1489C>G (p.Gln497Glu) c.2283C>G c.5947C>G (p.Gln1983Glu) c.3136C>G (p.Gln1046Glu) | |
14 | g.91272657G>T | CA390607977 | CCDC88C | c.6055C>A (p.Gln2019Lys) c.1489C>A (p.Gln497Lys) c.2283C>A c.5947C>A (p.Gln1983Lys) c.3136C>A (p.Gln1046Lys) | |
14 | g.91272658C>A | CA487828460 | CCDC88C | c.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 |
14 | g.91272658C= | CA2154899977 | CCDC88C | c.6054G= (p.Pro2018=) c.1488G= (p.Pro496=) c.2282G= c.5946G= (p.Pro1982=) c.3135G= (p.Pro1045=) | |
14 | g.91272658C>G | CA487828461 | CCDC88C | c.6054G>C (p.Pro2018=) c.1488G>C (p.Pro496=) c.2282G>C c.5946G>C (p.Pro1982=) c.3135G>C (p.Pro1045=) | |
14 | g.91272658C>T | CA7308514 | CCDC88C | c.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 |
14 | g.91272659G>A | CA7308515 | CCDC88C | c.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 |
14 | g.91272659G>C | CA390607978 | CCDC88C | c.6053C>G (p.Pro2018Arg) c.1487C>G (p.Pro496Arg) c.2281C>G c.5945C>G (p.Pro1982Arg) c.3134C>G (p.Pro1045Arg) | gnomAD v4 |
14 | g.91272659G= | CA2154899980 | CCDC88C | c.6053C= (p.Pro2018=) c.1487C= (p.Pro496=) c.2281C= c.5945C= (p.Pro1982=) c.3134C= (p.Pro1045=) | |
14 | g.91272659G>T | CA390607979 | CCDC88C | c.6053C>A (p.Pro2018Gln) c.1487C>A (p.Pro496Gln) c.2281C>A c.5945C>A (p.Pro1982Gln) c.3134C>A (p.Pro1045Gln) | |
14 | g.91272660G>A | CA390607980 | CCDC88C | c.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 |
14 | g.91272660G>C | CA390607981 | CCDC88C | c.6052C>G (p.Pro2018Ala) c.1486C>G (p.Pro496Ala) c.2280C>G c.5944C>G (p.Pro1982Ala) c.3133C>G (p.Pro1045Ala) | |
14 | g.91272660G= | CA2154899984 | CCDC88C | c.6052C= (p.Pro2018=) c.1486C= (p.Pro496=) c.2280C= c.5944C= (p.Pro1982=) c.3133C= (p.Pro1045=) | |
14 | g.91272660G>T | CA390607982 | CCDC88C | c.6052C>A (p.Pro2018Thr) c.1486C>A (p.Pro496Thr) c.2280C>A c.5944C>A (p.Pro1982Thr) c.3133C>A (p.Pro1045Thr) | gnomAD v4 |
14 | g.91272661A>C | CA390607983 | CCDC88C | c.6051T>G (p.Asp2017Glu) c.1485T>G (p.Asp495Glu) c.2279T>G c.5943T>G (p.Asp1981Glu) c.3132T>G (p.Asp1044Glu) | |
14 | g.91272661A>G | CA487828466 | CCDC88C | c.6051T>C (p.Asp2017=) c.1485T>C (p.Asp495=) c.2279T>C c.5943T>C (p.Asp1981=) c.3132T>C (p.Asp1044=) | |
14 | g.91272661A>T | CA390607984 | CCDC88C | c.6051T>A (p.Asp2017Glu) c.1485T>A (p.Asp495Glu) c.2279T>A c.5943T>A (p.Asp1981Glu) c.3132T>A (p.Asp1044Glu) | |
14 | g.91272662T>A | CA390607987 | CCDC88C | c.6050A>T (p.Asp2017Val) c.1484A>T (p.Asp495Val) c.2278A>T c.5942A>T (p.Asp1981Val) c.3131A>T (p.Asp1044Val) | |
14 | g.91272662T>C | CA390607985 | CCDC88C | c.6050A>G (p.Asp2017Gly) c.1484A>G (p.Asp495Gly) c.2278A>G c.5942A>G (p.Asp1981Gly) c.3131A>G (p.Asp1044Gly) | |
14 | g.91272662T>G | CA390607986 | CCDC88C | c.6050A>C (p.Asp2017Ala) c.1484A>C (p.Asp495Ala) c.2278A>C c.5942A>C (p.Asp1981Ala) c.3131A>C (p.Asp1044Ala) | |
14 | g.91272662_91272663delinsTC | CA2154899986 | CCDC88C | c.6049_6050delinsGA (p.Asp2017=) c.1483_1484delinsGA (p.Asp495=) c.2277_2278delinsGA c.5941_5942delinsGA (p.Asp1981=) c.3130_3131delinsGA (p.Asp1044=) | |
14 | g.91272663C>A | CA390607988 | CCDC88C | c.6049G>T (p.Asp2017Tyr) c.1483G>T (p.Asp495Tyr) c.2277G>T c.5941G>T (p.Asp1981Tyr) c.3130G>T (p.Asp1044Tyr) | |
14 | g.91272663C= | CA2154899994 | CCDC88C | c.6049G= (p.Asp2017=) c.1483G= (p.Asp495=) c.2277G= c.5941G= (p.Asp1981=) c.3130G= (p.Asp1044=) | |
14 | g.91272663C>G | CA390607990 | CCDC88C | c.6049G>C (p.Asp2017His) c.1483G>C (p.Asp495His) c.2277G>C c.5941G>C (p.Asp1981His) c.3130G>C (p.Asp1044His) | |
14 | g.91272663C>T | CA390607989 | CCDC88C | c.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 |
14 | g.91272666dup | CA2838367087 | CCDC88C | c.6049dup (p.Asp2017GlyfsTer8) c.1483dup (p.Asp495GlyfsTer8) c.2277dup c.5941dup (p.Asp1981GlyfsTer8) c.3130dup (p.Asp1044GlyfsTer8) | |
14 | g.91272666del | CA616112269 | CCDC88C | c.6049del (p.Asp2017IlefsTer?) c.1483del (p.Asp495IlefsTer?) c.2277del c.5941del (p.Asp1981IlefsTer?) c.3130del (p.Asp1044IlefsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272664C>A | CA487828467 | CCDC88C | c.6048G>T (p.Gly2016=) c.1482G>T (p.Gly494=) c.2276G>T c.5940G>T (p.Gly1980=) c.3129G>T (p.Gly1043=) | |
14 | g.91272664C>G | CA487828468 | CCDC88C | c.6048G>C (p.Gly2016=) c.1482G>C (p.Gly494=) c.2276G>C c.5940G>C (p.Gly1980=) c.3129G>C (p.Gly1043=) | |
14 | g.91272664C>T | CA487828469 | CCDC88C | c.6048G>A (p.Gly2016=) c.1482G>A (p.Gly494=) c.2276G>A c.5940G>A (p.Gly1980=) c.3129G>A (p.Gly1043=) | |
14 | g.91272665C>A | CA390607991 | CCDC88C | c.6047G>T (p.Gly2016Val) c.1481G>T (p.Gly494Val) c.2275G>T c.5939G>T (p.Gly1980Val) c.3128G>T (p.Gly1043Val) | |
14 | g.91272665C>G | CA390607992 | CCDC88C | c.6047G>C (p.Gly2016Ala) c.1481G>C (p.Gly494Ala) c.2275G>C c.5939G>C (p.Gly1980Ala) c.3128G>C (p.Gly1043Ala) | |
14 | g.91272665C>T | CA390607993 | CCDC88C | c.6047G>A (p.Gly2016Glu) c.1481G>A (p.Gly494Glu) c.2275G>A c.5939G>A (p.Gly1980Glu) c.3128G>A (p.Gly1043Glu) | gnomAD v4 |
14 | g.91272666C>A | CA390607994 | CCDC88C | c.6046G>T (p.Gly2016Trp) c.1480G>T (p.Gly494Trp) c.2274G>T c.5938G>T (p.Gly1980Trp) c.3127G>T (p.Gly1043Trp) | dbSNP |
14 | g.91272666C= | CA2154899998 | CCDC88C | c.6046G= (p.Gly2016=) c.1480G= (p.Gly494=) c.2274G= c.5938G= (p.Gly1980=) c.3127G= (p.Gly1043=) | |
14 | g.91272666C>G | CA7308517 | CCDC88C | c.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 |
14 | g.91272666C>T | CA7308516 | CCDC88C | c.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 |
14 | g.91272667del | CA2626127153 | CCDC88C | c.6045del (p.Asp2017IlefsTer?) c.1479del (p.Asp495IlefsTer?) c.2273del c.5937del (p.Asp1981IlefsTer?) c.3126del (p.Asp1044IlefsTer?) | gnomAD v4 |
14 | g.91272667G>A | CA487828474 | CCDC88C | c.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 |
14 | g.91272667G>C | CA7308518 | CCDC88C | c.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 |
14 | g.91272667G= | CA2154900003 | CCDC88C | c.6045C= (p.Gly2015=) c.1479C= (p.Gly493=) c.2273C= c.5937C= (p.Gly1979=) c.3126C= (p.Gly1042=) | |
14 | g.91272667G>T | CA487828473 | CCDC88C | c.6045C>A (p.Gly2015=) c.1479C>A (p.Gly493=) c.2273C>A c.5937C>A (p.Gly1979=) c.3126C>A (p.Gly1042=) | gnomAD v4 |
14 | g.91272668C>A | CA390607995 | CCDC88C | c.6044G>T (p.Gly2015Val) c.1478G>T (p.Gly493Val) c.2272G>T c.5936G>T (p.Gly1979Val) c.3125G>T (p.Gly1042Val) | gnomAD v4 |
14 | g.91272668C>G | CA390607996 | CCDC88C | c.6044G>C (p.Gly2015Ala) c.1478G>C (p.Gly493Ala) c.2272G>C c.5936G>C (p.Gly1979Ala) c.3125G>C (p.Gly1042Ala) | |
14 | g.91272668C>T | CA390607997 | CCDC88C | c.6044G>A (p.Gly2015Asp) c.1478G>A (p.Gly493Asp) c.2272G>A c.5936G>A (p.Gly1979Asp) c.3125G>A (p.Gly1042Asp) | gnomAD v4 |
14 | g.91272669C>A | CA390607998 | CCDC88C | c.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 |
14 | g.91272669C= | CA2154900013 | CCDC88C | c.6043G= (p.Gly2015=) c.1477G= (p.Gly493=) c.2271G= c.5935G= (p.Gly1979=) c.3124G= (p.Gly1042=) | |
14 | g.91272669C>G | CA390607999 | CCDC88C | c.6043G>C (p.Gly2015Arg) c.1477G>C (p.Gly493Arg) c.2271G>C c.5935G>C (p.Gly1979Arg) c.3124G>C (p.Gly1042Arg) | |
14 | g.91272669C>T | CA7308519 | CCDC88C | c.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 |
14 | g.91272670G>A | CA7308520 | CCDC88C | c.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 |
14 | g.91272670G>C | CA487828478 | CCDC88C | c.6042C>G (p.Pro2014=) c.1476C>G (p.Pro492=) c.2270C>G c.5934C>G (p.Pro1978=) c.3123C>G (p.Pro1041=) | |
14 | g.91272670G= | CA2154900017 | CCDC88C | c.6042C= (p.Pro2014=) c.1476C= (p.Pro492=) c.2270C= c.5934C= (p.Pro1978=) c.3123C= (p.Pro1041=) | |
14 | g.91272670G>T | CA487828479 | CCDC88C | c.6042C>A (p.Pro2014=) c.1476C>A (p.Pro492=) c.2270C>A c.5934C>A (p.Pro1978=) c.3123C>A (p.Pro1041=) | gnomAD v4 |
14 | g.91272671G>A | CA390608002 | CCDC88C | c.6041C>T (p.Pro2014Leu) c.1475C>T (p.Pro492Leu) c.2269C>T c.5933C>T (p.Pro1978Leu) c.3122C>T (p.Pro1041Leu) | gnomAD v4 |
14 | g.91272671G>C | CA390608000 | CCDC88C | c.6041C>G (p.Pro2014Arg) c.1475C>G (p.Pro492Arg) c.2269C>G c.5933C>G (p.Pro1978Arg) c.3122C>G (p.Pro1041Arg) | gnomAD v4 |
14 | g.91272671G>T | CA390608001 | CCDC88C | c.6041C>A (p.Pro2014His) c.1475C>A (p.Pro492His) c.2269C>A c.5933C>A (p.Pro1978His) c.3122C>A (p.Pro1041His) | |
14 | g.91272672G>A | CA390608003 | CCDC88C | c.6040C>T (p.Pro2014Ser) c.1474C>T (p.Pro492Ser) c.2268C>T c.5932C>T (p.Pro1978Ser) c.3121C>T (p.Pro1041Ser) | COSMIC COSMIC COSMIC |
14 | g.91272672G>C | CA390608004 | CCDC88C | c.6040C>G (p.Pro2014Ala) c.1474C>G (p.Pro492Ala) c.2268C>G c.5932C>G (p.Pro1978Ala) c.3121C>G (p.Pro1041Ala) | |
14 | g.91272672G>T | CA390608005 | CCDC88C | c.6040C>A (p.Pro2014Thr) c.1474C>A (p.Pro492Thr) c.2268C>A c.5932C>A (p.Pro1978Thr) c.3121C>A (p.Pro1041Thr) | |
14 | g.91272673C>A | CA390608006 | CCDC88C | c.6039G>T (p.Glu2013Asp) c.1473G>T (p.Glu491Asp) c.2267G>T c.5931G>T (p.Glu1977Asp) c.3120G>T (p.Glu1040Asp) | |
14 | g.91272673C>G | CA390608007 | CCDC88C | c.6039G>C (p.Glu2013Asp) c.1473G>C (p.Glu491Asp) c.2267G>C c.5931G>C (p.Glu1977Asp) c.3120G>C (p.Glu1040Asp) | gnomAD v4 |
14 | g.91272673C>T | CA487828481 | CCDC88C | c.6039G>A (p.Glu2013=) c.1473G>A (p.Glu491=) c.2267G>A c.5931G>A (p.Glu1977=) c.3120G>A (p.Glu1040=) | |
14 | g.91272674T>A | CA390608008 | CCDC88C | c.6038A>T (p.Glu2013Val) c.1472A>T (p.Glu491Val) c.2266A>T c.5930A>T (p.Glu1977Val) c.3119A>T (p.Glu1040Val) | |
14 | g.91272674T>C | CA390608010 | CCDC88C | c.6038A>G (p.Glu2013Gly) c.1472A>G (p.Glu491Gly) c.2266A>G c.5930A>G (p.Glu1977Gly) c.3119A>G (p.Glu1040Gly) | |
14 | g.91272674T>G | CA390608009 | CCDC88C | c.6038A>C (p.Glu2013Ala) c.1472A>C (p.Glu491Ala) c.2266A>C c.5930A>C (p.Glu1977Ala) c.3119A>C (p.Glu1040Ala) | |
14 | g.91272675C>A | CA390608011 | CCDC88C | c.6037G>T (p.Glu2013Ter) c.1471G>T (p.Glu491Ter) c.2265G>T c.5929G>T (p.Glu1977Ter) c.3118G>T (p.Glu1040Ter) | |
14 | g.91272675C= | CA2154900020 | CCDC88C | c.6037G= (p.Glu2013=) c.1471G= (p.Glu491=) c.2265G= c.5929G= (p.Glu1977=) c.3118G= (p.Glu1040=) | |
14 | g.91272675C>G | CA390608012 | CCDC88C | c.6037G>C (p.Glu2013Gln) c.1471G>C (p.Glu491Gln) c.2265G>C c.5929G>C (p.Glu1977Gln) c.3118G>C (p.Glu1040Gln) | |
14 | g.91272675C>T | CA390608013 | CCDC88C | c.6037G>A (p.Glu2013Lys) c.1471G>A (p.Glu491Lys) c.2265G>A c.5929G>A (p.Glu1977Lys) c.3118G>A (p.Glu1040Lys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272676C>A | CA487828484 | CCDC88C | c.6036G>T (p.Pro2012=) c.1470G>T (p.Pro490=) c.2264G>T c.5928G>T (p.Pro1976=) c.3117G>T (p.Pro1039=) | |
14 | g.91272676C= | CA2154900030 | CCDC88C | c.6036G= (p.Pro2012=) c.1470G= (p.Pro490=) c.2264G= c.5928G= (p.Pro1976=) c.3117G= (p.Pro1039=) | |
14 | g.91272676C>G | CA487828485 | CCDC88C | c.6036G>C (p.Pro2012=) c.1470G>C (p.Pro490=) c.2264G>C c.5928G>C (p.Pro1976=) c.3117G>C (p.Pro1039=) | gnomAD v4 |
14 | g.91272676C>T | CA7308521 | CCDC88C | c.6036G>A (p.Pro2012=) c.1470G>A (p.Pro490=) c.2264G>A c.5928G>A (p.Pro1976=) c.3117G>A (p.Pro1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272677G>A | CA7308522 | CCDC88C | c.6035C>T (p.Pro2012Leu) c.1469C>T (p.Pro490Leu) c.2263C>T c.5927C>T (p.Pro1976Leu) c.3116C>T (p.Pro1039Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272677G>C | CA390608014 | CCDC88C | c.6035C>G (p.Pro2012Arg) c.1469C>G (p.Pro490Arg) c.2263C>G c.5927C>G (p.Pro1976Arg) c.3116C>G (p.Pro1039Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272677G= | CA2154900037 | CCDC88C | c.6035C= (p.Pro2012=) c.1469C= (p.Pro490=) c.2263C= c.5927C= (p.Pro1976=) c.3116C= (p.Pro1039=) | |
14 | g.91272677G>T | CA7308523 | CCDC88C | c.6035C>A (p.Pro2012Gln) c.1469C>A (p.Pro490Gln) c.2263C>A c.5927C>A (p.Pro1976Gln) c.3116C>A (p.Pro1039Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272680del | CA2626127171 | CCDC88C | c.6035del (p.Pro2012ArgfsTer?) c.1469del (p.Pro490ArgfsTer?) c.2263del c.5927del (p.Pro1976ArgfsTer?) c.3116del (p.Pro1039ArgfsTer?) | gnomAD v4 |
14 | g.91272678G>A | CA390608015 | CCDC88C | c.6034C>T (p.Pro2012Ser) c.1468C>T (p.Pro490Ser) c.2262C>T c.5926C>T (p.Pro1976Ser) c.3115C>T (p.Pro1039Ser) | gnomAD v4 |
14 | g.91272678G>C | CA390608016 | CCDC88C | c.6034C>G (p.Pro2012Ala) c.1468C>G (p.Pro490Ala) c.2262C>G c.5926C>G (p.Pro1976Ala) c.3115C>G (p.Pro1039Ala) | |
14 | g.91272678G>T | CA390608017 | CCDC88C | c.6034C>A (p.Pro2012Thr) c.1468C>A (p.Pro490Thr) c.2262C>A c.5926C>A (p.Pro1976Thr) c.3115C>A (p.Pro1039Thr) | |
14 | g.91272679G>A | CA487828489 | CCDC88C | c.6033C>T (p.Ser2011=) c.1467C>T (p.Ser489=) c.2261C>T c.5925C>T (p.Ser1975=) c.3114C>T (p.Ser1038=) | gnomAD v4 |
14 | g.91272679G>C | CA487828490 | CCDC88C | c.6033C>G (p.Ser2011=) c.1467C>G (p.Ser489=) c.2261C>G c.5925C>G (p.Ser1975=) c.3114C>G (p.Ser1038=) | dbSNP |
14 | g.91272679G= | CA2154900040 | CCDC88C | c.6033C= (p.Ser2011=) c.1467C= (p.Ser489=) c.2261C= c.5925C= (p.Ser1975=) c.3114C= (p.Ser1038=) | |
14 | g.91272679G>T | CA487828491 | CCDC88C | c.6033C>A (p.Ser2011=) c.1467C>A (p.Ser489=) c.2261C>A c.5925C>A (p.Ser1975=) c.3114C>A (p.Ser1038=) | |
14 | g.91272680G>A | CA390608018 | CCDC88C | c.6032C>T (p.Ser2011Phe) c.1466C>T (p.Ser489Phe) c.2260C>T c.5924C>T (p.Ser1975Phe) c.3113C>T (p.Ser1038Phe) | gnomAD v4 |
14 | g.91272680G>C | CA7308524 | CCDC88C | c.6032C>G (p.Ser2011Cys) c.1466C>G (p.Ser489Cys) c.2260C>G c.5924C>G (p.Ser1975Cys) c.3113C>G (p.Ser1038Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272680G= | CA2154900057 | CCDC88C | c.6032C= (p.Ser2011=) c.1466C= (p.Ser489=) c.2260C= c.5924C= (p.Ser1975=) c.3113C= (p.Ser1038=) | |
14 | g.91272680G>T | CA390608019 | CCDC88C | c.6032C>A (p.Ser2011Tyr) c.1466C>A (p.Ser489Tyr) c.2260C>A c.5924C>A (p.Ser1975Tyr) c.3113C>A (p.Ser1038Tyr) | gnomAD v4 |
14 | g.91272681A>C | CA390608020 | CCDC88C | c.6031T>G (p.Ser2011Ala) c.1465T>G (p.Ser489Ala) c.2259T>G c.5923T>G (p.Ser1975Ala) c.3112T>G (p.Ser1038Ala) | |
14 | g.91272681A>G | CA390608021 | CCDC88C | c.6031T>C (p.Ser2011Pro) c.1465T>C (p.Ser489Pro) c.2259T>C c.5923T>C (p.Ser1975Pro) c.3112T>C (p.Ser1038Pro) | |
14 | g.91272681A>T | CA390608022 | CCDC88C | c.6031T>A (p.Ser2011Thr) c.1465T>A (p.Ser489Thr) c.2259T>A c.5923T>A (p.Ser1975Thr) c.3112T>A (p.Ser1038Thr) | |
14 | g.91272682G>A | CA487828493 | CCDC88C | c.6030C>T (p.Ala2010=) c.1464C>T (p.Ala488=) c.2258C>T c.5922C>T (p.Ala1974=) c.3111C>T (p.Ala1037=) | gnomAD v4 |
14 | g.91272682G>C | CA487828495 | CCDC88C | c.6030C>G (p.Ala2010=) c.1464C>G (p.Ala488=) c.2258C>G c.5922C>G (p.Ala1974=) c.3111C>G (p.Ala1037=) | |
14 | g.91272682G>T | CA487828496 | CCDC88C | c.6030C>A (p.Ala2010=) c.1464C>A (p.Ala488=) c.2258C>A c.5922C>A (p.Ala1974=) c.3111C>A (p.Ala1037=) | gnomAD v4 |
14 | g.91272683G>A | CA390608023 | CCDC88C | c.6029C>T (p.Ala2010Val) c.1463C>T (p.Ala488Val) c.2257C>T c.5921C>T (p.Ala1974Val) c.3110C>T (p.Ala1037Val) | |
14 | g.91272683G>C | CA390608024 | CCDC88C | c.6029C>G (p.Ala2010Gly) c.1463C>G (p.Ala488Gly) c.2257C>G c.5921C>G (p.Ala1974Gly) c.3110C>G (p.Ala1037Gly) | |
14 | g.91272683G>T | CA390608025 | CCDC88C | c.6029C>A (p.Ala2010Asp) c.1463C>A (p.Ala488Asp) c.2257C>A c.5921C>A (p.Ala1974Asp) c.3110C>A (p.Ala1037Asp) | gnomAD v4 |
14 | g.91272684C>A | CA390608027 | CCDC88C | c.6028G>T (p.Ala2010Ser) c.1462G>T (p.Ala488Ser) c.2256G>T c.5920G>T (p.Ala1974Ser) c.3109G>T (p.Ala1037Ser) | dbSNP |
14 | g.91272684C= | CA2154900062 | CCDC88C | c.6028G= (p.Ala2010=) c.1462G= (p.Ala488=) c.2256G= c.5920G= (p.Ala1974=) c.3109G= (p.Ala1037=) | |
14 | g.91272684C>G | CA390608028 | CCDC88C | c.6028G>C (p.Ala2010Pro) c.1462G>C (p.Ala488Pro) c.2256G>C c.5920G>C (p.Ala1974Pro) c.3109G>C (p.Ala1037Pro) | |
14 | g.91272684C>T | CA390608026 | CCDC88C | c.6028G>A (p.Ala2010Thr) c.1462G>A (p.Ala488Thr) c.2256G>A c.5920G>A (p.Ala1974Thr) c.3109G>A (p.Ala1037Thr) | gnomAD v4 |