Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13770896T>A | CA359204907 | DNAH5 | c.9458A>T (p.Gln3153Leu) c.9413A>T (p.Gln3138Leu) n.170A>T c.9566A>T (p.Gln3189Leu) c.8471A>T (p.Gln2824Leu) c.4655A>T (p.Gln1552Leu) c.4208A>T (p.Gln1403Leu) c.3545A>T (p.Gln1182Leu) c.8060A>T (p.Gln2687Leu) | |
5 | g.13770896T>C | CA359204908 | DNAH5 | c.9458A>G (p.Gln3153Arg) c.9413A>G (p.Gln3138Arg) n.170A>G c.9566A>G (p.Gln3189Arg) c.8471A>G (p.Gln2824Arg) c.4655A>G (p.Gln1552Arg) c.4208A>G (p.Gln1403Arg) c.3545A>G (p.Gln1182Arg) c.8060A>G (p.Gln2687Arg) | |
5 | g.13770896T>G | CA359204906 | DNAH5 | c.9458A>C (p.Gln3153Pro) c.9413A>C (p.Gln3138Pro) n.170A>C c.9566A>C (p.Gln3189Pro) c.8471A>C (p.Gln2824Pro) c.4655A>C (p.Gln1552Pro) c.4208A>C (p.Gln1403Pro) c.3545A>C (p.Gln1182Pro) c.8060A>C (p.Gln2687Pro) | |
5 | g.13770897G>A | CA359204909 | DNAH5 | c.9457C>T (p.Gln3153Ter) c.9412C>T (p.Gln3138Ter) n.169C>T c.9565C>T (p.Gln3189Ter) c.8470C>T (p.Gln2824Ter) c.4654C>T (p.Gln1552Ter) c.4207C>T (p.Gln1403Ter) c.3544C>T (p.Gln1182Ter) c.8059C>T (p.Gln2687Ter) | |
5 | g.13770897G>C | CA359204911 | DNAH5 | c.9457C>G (p.Gln3153Glu) c.9412C>G (p.Gln3138Glu) n.169C>G c.9565C>G (p.Gln3189Glu) c.8470C>G (p.Gln2824Glu) c.4654C>G (p.Gln1552Glu) c.4207C>G (p.Gln1403Glu) c.3544C>G (p.Gln1182Glu) c.8059C>G (p.Gln2687Glu) | |
5 | g.13770897G>T | CA359204912 | DNAH5 | c.9457C>A (p.Gln3153Lys) c.9412C>A (p.Gln3138Lys) n.169C>A c.9565C>A (p.Gln3189Lys) c.8470C>A (p.Gln2824Lys) c.4654C>A (p.Gln1552Lys) c.4207C>A (p.Gln1403Lys) c.3544C>A (p.Gln1182Lys) c.8059C>A (p.Gln2687Lys) | |
5 | g.13770898G>A | CA443535682 | DNAH5 | c.9456C>T (p.Phe3152=) c.9411C>T (p.Phe3137=) n.168C>T c.9564C>T (p.Phe3188=) c.8469C>T (p.Phe2823=) c.4653C>T (p.Phe1551=) c.4206C>T (p.Phe1402=) c.3543C>T (p.Phe1181=) c.8058C>T (p.Phe2686=) | |
5 | g.13770898G>C | CA359204915 | DNAH5 | c.9456C>G (p.Phe3152Leu) c.9411C>G (p.Phe3137Leu) n.168C>G c.9564C>G (p.Phe3188Leu) c.8469C>G (p.Phe2823Leu) c.4653C>G (p.Phe1551Leu) c.4206C>G (p.Phe1402Leu) c.3543C>G (p.Phe1181Leu) c.8058C>G (p.Phe2686Leu) | |
5 | g.13770898G>T | CA359204918 | DNAH5 | c.9456C>A (p.Phe3152Leu) c.9411C>A (p.Phe3137Leu) n.168C>A c.9564C>A (p.Phe3188Leu) c.8469C>A (p.Phe2823Leu) c.4653C>A (p.Phe1551Leu) c.4206C>A (p.Phe1402Leu) c.3543C>A (p.Phe1181Leu) c.8058C>A (p.Phe2686Leu) | |
5 | g.13770899A>C | CA359204931 | DNAH5 | c.9455T>G (p.Phe3152Cys) c.9410T>G (p.Phe3137Cys) n.167T>G c.9563T>G (p.Phe3188Cys) c.8468T>G (p.Phe2823Cys) c.4652T>G (p.Phe1551Cys) c.4205T>G (p.Phe1402Cys) c.3542T>G (p.Phe1181Cys) c.8057T>G (p.Phe2686Cys) | |
5 | g.13770899A>G | CA359204926 | DNAH5 | c.9455T>C (p.Phe3152Ser) c.9410T>C (p.Phe3137Ser) n.167T>C c.9563T>C (p.Phe3188Ser) c.8468T>C (p.Phe2823Ser) c.4652T>C (p.Phe1551Ser) c.4205T>C (p.Phe1402Ser) c.3542T>C (p.Phe1181Ser) c.8057T>C (p.Phe2686Ser) | |
5 | g.13770899A>T | CA359204928 | DNAH5 | c.9455T>A (p.Phe3152Tyr) c.9410T>A (p.Phe3137Tyr) n.167T>A c.9563T>A (p.Phe3188Tyr) c.8468T>A (p.Phe2823Tyr) c.4652T>A (p.Phe1551Tyr) c.4205T>A (p.Phe1402Tyr) c.3542T>A (p.Phe1181Tyr) c.8057T>A (p.Phe2686Tyr) | |
5 | g.13770900A>C | CA359204934 | DNAH5 | c.9454T>G (p.Phe3152Val) c.9409T>G (p.Phe3137Val) n.166T>G c.9562T>G (p.Phe3188Val) c.8467T>G (p.Phe2823Val) c.4651T>G (p.Phe1551Val) c.4204T>G (p.Phe1402Val) c.3541T>G (p.Phe1181Val) c.8056T>G (p.Phe2686Val) | |
5 | g.13770900A>G | CA359204937 | DNAH5 | c.9454T>C (p.Phe3152Leu) c.9409T>C (p.Phe3137Leu) n.166T>C c.9562T>C (p.Phe3188Leu) c.8467T>C (p.Phe2823Leu) c.4651T>C (p.Phe1551Leu) c.4204T>C (p.Phe1402Leu) c.3541T>C (p.Phe1181Leu) c.8056T>C (p.Phe2686Leu) | |
5 | g.13770900A>T | CA359204938 | DNAH5 | c.9454T>A (p.Phe3152Ile) c.9409T>A (p.Phe3137Ile) n.166T>A c.9562T>A (p.Phe3188Ile) c.8467T>A (p.Phe2823Ile) c.4651T>A (p.Phe1551Ile) c.4204T>A (p.Phe1402Ile) c.3541T>A (p.Phe1181Ile) c.8056T>A (p.Phe2686Ile) | |
5 | g.13770901G>A | CA443535687 | DNAH5 | c.9453C>T (p.Ser3151=) c.9408C>T (p.Ser3136=) n.165C>T c.9561C>T (p.Ser3187=) c.8466C>T (p.Ser2822=) c.4650C>T (p.Ser1550=) c.4203C>T (p.Ser1401=) c.3540C>T (p.Ser1180=) c.8055C>T (p.Ser2685=) | dbSNP COSMIC |
5 | g.13770901G>C | CA443535689 | DNAH5 | c.9453C>G (p.Ser3151=) c.9408C>G (p.Ser3136=) n.165C>G c.9561C>G (p.Ser3187=) c.8466C>G (p.Ser2822=) c.4650C>G (p.Ser1550=) c.4203C>G (p.Ser1401=) c.3540C>G (p.Ser1180=) c.8055C>G (p.Ser2685=) | |
5 | g.13770901G= | CA1528431230 | DNAH5 | c.9453C= (p.Ser3151=) c.9408C= (p.Ser3136=) n.165C= c.9561C= (p.Ser3187=) c.8466C= (p.Ser2822=) c.4650C= (p.Ser1550=) c.4203C= (p.Ser1401=) c.3540C= (p.Ser1180=) c.8055C= (p.Ser2685=) | |
5 | g.13770901G>T | CA443535690 | DNAH5 | c.9453C>A (p.Ser3151=) c.9408C>A (p.Ser3136=) n.165C>A c.9561C>A (p.Ser3187=) c.8466C>A (p.Ser2822=) c.4650C>A (p.Ser1550=) c.4203C>A (p.Ser1401=) c.3540C>A (p.Ser1180=) c.8055C>A (p.Ser2685=) | |
5 | g.13770902G>A | CA359204942 | DNAH5 | c.9452C>T (p.Ser3151Phe) c.9407C>T (p.Ser3136Phe) n.164C>T c.9560C>T (p.Ser3187Phe) c.8465C>T (p.Ser2822Phe) c.4649C>T (p.Ser1550Phe) c.4202C>T (p.Ser1401Phe) c.3539C>T (p.Ser1180Phe) c.8054C>T (p.Ser2685Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770902G>C | CA359204944 | DNAH5 | c.9452C>G (p.Ser3151Cys) c.9407C>G (p.Ser3136Cys) n.164C>G c.9560C>G (p.Ser3187Cys) c.8465C>G (p.Ser2822Cys) c.4649C>G (p.Ser1550Cys) c.4202C>G (p.Ser1401Cys) c.3539C>G (p.Ser1180Cys) c.8054C>G (p.Ser2685Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770902G= | CA1528431231 | DNAH5 | c.9452C= (p.Ser3151=) c.9407C= (p.Ser3136=) n.164C= c.9560C= (p.Ser3187=) c.8465C= (p.Ser2822=) c.4649C= (p.Ser1550=) c.4202C= (p.Ser1401=) c.3539C= (p.Ser1180=) c.8054C= (p.Ser2685=) | |
5 | g.13770902G>T | CA359204951 | DNAH5 | c.9452C>A (p.Ser3151Tyr) c.9407C>A (p.Ser3136Tyr) n.164C>A c.9560C>A (p.Ser3187Tyr) c.8465C>A (p.Ser2822Tyr) c.4649C>A (p.Ser1550Tyr) c.4202C>A (p.Ser1401Tyr) c.3539C>A (p.Ser1180Tyr) c.8054C>A (p.Ser2685Tyr) | |
5 | g.13770903A= | CA1528431232 | DNAH5 | c.9451T= (p.Ser3151=) c.9406T= (p.Ser3136=) n.163T= c.9559T= (p.Ser3187=) c.8464T= (p.Ser2822=) c.4648T= (p.Ser1550=) c.4201T= (p.Ser1401=) c.3538T= (p.Ser1180=) c.8053T= (p.Ser2685=) | |
5 | g.13770903A>C | CA359204959 | DNAH5 | c.9451T>G (p.Ser3151Ala) c.9406T>G (p.Ser3136Ala) n.163T>G c.9559T>G (p.Ser3187Ala) c.8464T>G (p.Ser2822Ala) c.4648T>G (p.Ser1550Ala) c.4201T>G (p.Ser1401Ala) c.3538T>G (p.Ser1180Ala) c.8053T>G (p.Ser2685Ala) | |
5 | g.13770903A>G | CA359204960 | DNAH5 | c.9451T>C (p.Ser3151Pro) c.9406T>C (p.Ser3136Pro) n.163T>C c.9559T>C (p.Ser3187Pro) c.8464T>C (p.Ser2822Pro) c.4648T>C (p.Ser1550Pro) c.4201T>C (p.Ser1401Pro) c.3538T>C (p.Ser1180Pro) c.8053T>C (p.Ser2685Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770903A>T | CA359204953 | DNAH5 | c.9451T>A (p.Ser3151Thr) c.9406T>A (p.Ser3136Thr) n.163T>A c.9559T>A (p.Ser3187Thr) c.8464T>A (p.Ser2822Thr) c.4648T>A (p.Ser1550Thr) c.4201T>A (p.Ser1401Thr) c.3538T>A (p.Ser1180Thr) c.8053T>A (p.Ser2685Thr) | |
5 | g.13770904G>A | CA443535692 | DNAH5 | c.9450C>T (p.Gly3150=) c.9405C>T (p.Gly3135=) n.162C>T c.9558C>T (p.Gly3186=) c.8463C>T (p.Gly2821=) c.4647C>T (p.Gly1549=) c.4200C>T (p.Gly1400=) c.3537C>T (p.Gly1179=) c.8052C>T (p.Gly2684=) | ClinVar |
5 | g.13770904G>C | CA443535693 | DNAH5 | c.9450C>G (p.Gly3150=) c.9405C>G (p.Gly3135=) n.162C>G c.9558C>G (p.Gly3186=) c.8463C>G (p.Gly2821=) c.4647C>G (p.Gly1549=) c.4200C>G (p.Gly1400=) c.3537C>G (p.Gly1179=) c.8052C>G (p.Gly2684=) | |
5 | g.13770904G>T | CA443535694 | DNAH5 | c.9450C>A (p.Gly3150=) c.9405C>A (p.Gly3135=) n.162C>A c.9558C>A (p.Gly3186=) c.8463C>A (p.Gly2821=) c.4647C>A (p.Gly1549=) c.4200C>A (p.Gly1400=) c.3537C>A (p.Gly1179=) c.8052C>A (p.Gly2684=) | gnomAD v4 |
5 | g.13770904_13770905delinsGC | CA1528431233 | DNAH5 | c.9449_9450delinsGC (p.Gly3150=) c.9404_9405delinsGC (p.Gly3135=) n.161_162delinsGC c.9557_9558delinsGC (p.Gly3186=) c.8462_8463delinsGC (p.Gly2821=) c.4646_4647delinsGC (p.Gly1549=) c.4199_4200delinsGC (p.Gly1400=) c.3536_3537delinsGC (p.Gly1179=) c.8051_8052delinsGC (p.Gly2684=) | |
5 | g.13770905C>A | CA359204962 | DNAH5 | c.9449G>T (p.Gly3150Val) c.9404G>T (p.Gly3135Val) n.161G>T c.9557G>T (p.Gly3186Val) c.8462G>T (p.Gly2821Val) c.4646G>T (p.Gly1549Val) c.4199G>T (p.Gly1400Val) c.3536G>T (p.Gly1179Val) c.8051G>T (p.Gly2684Val) | |
5 | g.13770905C>G | CA359204965 | DNAH5 | c.9449G>C (p.Gly3150Ala) c.9404G>C (p.Gly3135Ala) n.161G>C c.9557G>C (p.Gly3186Ala) c.8462G>C (p.Gly2821Ala) c.4646G>C (p.Gly1549Ala) c.4199G>C (p.Gly1400Ala) c.3536G>C (p.Gly1179Ala) c.8051G>C (p.Gly2684Ala) | |
5 | g.13770905C>T | CA359204970 | DNAH5 | c.9449G>A (p.Gly3150Asp) c.9404G>A (p.Gly3135Asp) n.161G>A c.9557G>A (p.Gly3186Asp) c.8462G>A (p.Gly2821Asp) c.4646G>A (p.Gly1549Asp) c.4199G>A (p.Gly1400Asp) c.3536G>A (p.Gly1179Asp) c.8051G>A (p.Gly2684Asp) | |
5 | g.13770907del | CA273615 | DNAH5 | c.9449del (p.Gly3150AlafsTer24) c.9404del (p.Gly3135AlafsTer24) n.161del c.9557del (p.Gly3186AlafsTer24) c.8462del (p.Gly2821AlafsTer24) c.4646del (p.Gly1549AlafsTer24) c.4199del (p.Gly1400AlafsTer24) c.3536del (p.Gly1179AlafsTer24) c.8051del (p.Gly2684AlafsTer24) | ClinVar dbSNP |
5 | g.13770906C>A | CA359204974 | DNAH5 | c.9448G>T (p.Gly3150Cys) c.9403G>T (p.Gly3135Cys) n.160G>T c.9556G>T (p.Gly3186Cys) c.8461G>T (p.Gly2821Cys) c.4645G>T (p.Gly1549Cys) c.4198G>T (p.Gly1400Cys) c.3535G>T (p.Gly1179Cys) c.8050G>T (p.Gly2684Cys) | |
5 | g.13770906C>G | CA359204977 | DNAH5 | c.9448G>C (p.Gly3150Arg) c.9403G>C (p.Gly3135Arg) n.160G>C c.9556G>C (p.Gly3186Arg) c.8461G>C (p.Gly2821Arg) c.4645G>C (p.Gly1549Arg) c.4198G>C (p.Gly1400Arg) c.3535G>C (p.Gly1179Arg) c.8050G>C (p.Gly2684Arg) | |
5 | g.13770906C>T | CA359204980 | DNAH5 | c.9448G>A (p.Gly3150Ser) c.9403G>A (p.Gly3135Ser) n.160G>A c.9556G>A (p.Gly3186Ser) c.8461G>A (p.Gly2821Ser) c.4645G>A (p.Gly1549Ser) c.4198G>A (p.Gly1400Ser) c.3535G>A (p.Gly1179Ser) c.8050G>A (p.Gly2684Ser) | |
5 | g.13770907C>A | CA359204981 | DNAH5 | c.9447G>T (p.Met3149Ile) c.9402G>T (p.Met3134Ile) n.159G>T c.9555G>T (p.Met3185Ile) c.8460G>T (p.Met2820Ile) c.4644G>T (p.Met1548Ile) c.4197G>T (p.Met1399Ile) c.3534G>T (p.Met1178Ile) c.8049G>T (p.Met2683Ile) | |
5 | g.13770907C>G | CA359204983 | DNAH5 | c.9447G>C (p.Met3149Ile) c.9402G>C (p.Met3134Ile) n.159G>C c.9555G>C (p.Met3185Ile) c.8460G>C (p.Met2820Ile) c.4644G>C (p.Met1548Ile) c.4197G>C (p.Met1399Ile) c.3534G>C (p.Met1178Ile) c.8049G>C (p.Met2683Ile) | |
5 | g.13770907C>T | CA359204985 | DNAH5 | c.9447G>A (p.Met3149Ile) c.9402G>A (p.Met3134Ile) n.159G>A c.9555G>A (p.Met3185Ile) c.8460G>A (p.Met2820Ile) c.4644G>A (p.Met1548Ile) c.4197G>A (p.Met1399Ile) c.3534G>A (p.Met1178Ile) c.8049G>A (p.Met2683Ile) | gnomAD v4 |
5 | g.13770908A>C | CA359204988 | DNAH5 | c.9446T>G (p.Met3149Arg) c.9401T>G (p.Met3134Arg) n.158T>G c.9554T>G (p.Met3185Arg) c.8459T>G (p.Met2820Arg) c.4643T>G (p.Met1548Arg) c.4196T>G (p.Met1399Arg) c.3533T>G (p.Met1178Arg) c.8048T>G (p.Met2683Arg) | |
5 | g.13770908A>G | CA359204990 | DNAH5 | c.9446T>C (p.Met3149Thr) c.9401T>C (p.Met3134Thr) n.158T>C c.9554T>C (p.Met3185Thr) c.8459T>C (p.Met2820Thr) c.4643T>C (p.Met1548Thr) c.4196T>C (p.Met1399Thr) c.3533T>C (p.Met1178Thr) c.8048T>C (p.Met2683Thr) | |
5 | g.13770908A>T | CA359204999 | DNAH5 | c.9446T>A (p.Met3149Lys) c.9401T>A (p.Met3134Lys) n.158T>A c.9554T>A (p.Met3185Lys) c.8459T>A (p.Met2820Lys) c.4643T>A (p.Met1548Lys) c.4196T>A (p.Met1399Lys) c.3533T>A (p.Met1178Lys) c.8048T>A (p.Met2683Lys) | |
5 | g.13770909T>A | CA359205007 | DNAH5 | c.9445A>T (p.Met3149Leu) c.9400A>T (p.Met3134Leu) n.157A>T c.9553A>T (p.Met3185Leu) c.8458A>T (p.Met2820Leu) c.4642A>T (p.Met1548Leu) c.4195A>T (p.Met1399Leu) c.3532A>T (p.Met1178Leu) c.8047A>T (p.Met2683Leu) | gnomAD v4 |
5 | g.13770909T>C | CA359205005 | DNAH5 | c.9445A>G (p.Met3149Val) c.9400A>G (p.Met3134Val) n.157A>G c.9553A>G (p.Met3185Val) c.8458A>G (p.Met2820Val) c.4642A>G (p.Met1548Val) c.4195A>G (p.Met1399Val) c.3532A>G (p.Met1178Val) c.8047A>G (p.Met2683Val) | |
5 | g.13770909T>G | CA359205002 | DNAH5 | c.9445A>C (p.Met3149Leu) c.9400A>C (p.Met3134Leu) n.157A>C c.9553A>C (p.Met3185Leu) c.8458A>C (p.Met2820Leu) c.4642A>C (p.Met1548Leu) c.4195A>C (p.Met1399Leu) c.3532A>C (p.Met1178Leu) c.8047A>C (p.Met2683Leu) | |
5 | g.13770910G>A | CA3202543 | DNAH5 | c.9444C>T (p.Cys3148=) c.9399C>T (p.Cys3133=) n.156C>T c.9552C>T (p.Cys3184=) c.8457C>T (p.Cys2819=) c.4641C>T (p.Cys1547=) c.4194C>T (p.Cys1398=) c.3531C>T (p.Cys1177=) c.8046C>T (p.Cys2682=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770910G>C | CA359205015 | DNAH5 | c.9444C>G (p.Cys3148Trp) c.9399C>G (p.Cys3133Trp) n.156C>G c.9552C>G (p.Cys3184Trp) c.8457C>G (p.Cys2819Trp) c.4641C>G (p.Cys1547Trp) c.4194C>G (p.Cys1398Trp) c.3531C>G (p.Cys1177Trp) c.8046C>G (p.Cys2682Trp) | gnomAD v4 |
5 | g.13770910G= | CA1528431234 | DNAH5 | c.9444C= (p.Cys3148=) c.9399C= (p.Cys3133=) n.156C= c.9552C= (p.Cys3184=) c.8457C= (p.Cys2819=) c.4641C= (p.Cys1547=) c.4194C= (p.Cys1398=) c.3531C= (p.Cys1177=) c.8046C= (p.Cys2682=) | |
5 | g.13770910G>T | CA359205019 | DNAH5 | c.9444C>A (p.Cys3148Ter) c.9399C>A (p.Cys3133Ter) n.156C>A c.9552C>A (p.Cys3184Ter) c.8457C>A (p.Cys2819Ter) c.4641C>A (p.Cys1547Ter) c.4194C>A (p.Cys1398Ter) c.3531C>A (p.Cys1177Ter) c.8046C>A (p.Cys2682Ter) | |
5 | g.13770911C>A | CA359205020 | DNAH5 | c.9443G>T (p.Cys3148Phe) c.9398G>T (p.Cys3133Phe) n.155G>T c.9551G>T (p.Cys3184Phe) c.8456G>T (p.Cys2819Phe) c.4640G>T (p.Cys1547Phe) c.4193G>T (p.Cys1398Phe) c.3530G>T (p.Cys1177Phe) c.8045G>T (p.Cys2682Phe) | gnomAD v4 |
5 | g.13770911C>G | CA359205023 | DNAH5 | c.9443G>C (p.Cys3148Ser) c.9398G>C (p.Cys3133Ser) n.155G>C c.9551G>C (p.Cys3184Ser) c.8456G>C (p.Cys2819Ser) c.4640G>C (p.Cys1547Ser) c.4193G>C (p.Cys1398Ser) c.3530G>C (p.Cys1177Ser) c.8045G>C (p.Cys2682Ser) | |
5 | g.13770911C>T | CA359205026 | DNAH5 | c.9443G>A (p.Cys3148Tyr) c.9398G>A (p.Cys3133Tyr) n.155G>A c.9551G>A (p.Cys3184Tyr) c.8456G>A (p.Cys2819Tyr) c.4640G>A (p.Cys1547Tyr) c.4193G>A (p.Cys1398Tyr) c.3530G>A (p.Cys1177Tyr) c.8045G>A (p.Cys2682Tyr) | |
5 | g.13770912A>C | CA359205027 | DNAH5 | c.9442T>G (p.Cys3148Gly) c.9397T>G (p.Cys3133Gly) n.154T>G c.9550T>G (p.Cys3184Gly) c.8455T>G (p.Cys2819Gly) c.4639T>G (p.Cys1547Gly) c.4192T>G (p.Cys1398Gly) c.3529T>G (p.Cys1177Gly) c.8044T>G (p.Cys2682Gly) | |
5 | g.13770912A>G | CA359205028 | DNAH5 | c.9442T>C (p.Cys3148Arg) c.9397T>C (p.Cys3133Arg) n.154T>C c.9550T>C (p.Cys3184Arg) c.8455T>C (p.Cys2819Arg) c.4639T>C (p.Cys1547Arg) c.4192T>C (p.Cys1398Arg) c.3529T>C (p.Cys1177Arg) c.8044T>C (p.Cys2682Arg) | |
5 | g.13770912A>T | CA359205030 | DNAH5 | c.9442T>A (p.Cys3148Ser) c.9397T>A (p.Cys3133Ser) n.154T>A c.9550T>A (p.Cys3184Ser) c.8455T>A (p.Cys2819Ser) c.4639T>A (p.Cys1547Ser) c.4192T>A (p.Cys1398Ser) c.3529T>A (p.Cys1177Ser) c.8044T>A (p.Cys2682Ser) | |
5 | g.13770913T>A | CA359205032 | DNAH5 | c.9441A>T (p.Gln3147His) c.9396A>T (p.Gln3132His) n.153A>T c.9549A>T (p.Gln3183His) c.8454A>T (p.Gln2818His) c.4638A>T (p.Gln1546His) c.4191A>T (p.Gln1397His) c.3528A>T (p.Gln1176His) c.8043A>T (p.Gln2681His) | |
5 | g.13770913T>C | CA443535710 | DNAH5 | c.9441A>G (p.Gln3147=) c.9396A>G (p.Gln3132=) n.153A>G c.9549A>G (p.Gln3183=) c.8454A>G (p.Gln2818=) c.4638A>G (p.Gln1546=) c.4191A>G (p.Gln1397=) c.3528A>G (p.Gln1176=) c.8043A>G (p.Gln2681=) | gnomAD v4 |
5 | g.13770913T>G | CA359205034 | DNAH5 | c.9441A>C (p.Gln3147His) c.9396A>C (p.Gln3132His) n.153A>C c.9549A>C (p.Gln3183His) c.8454A>C (p.Gln2818His) c.4638A>C (p.Gln1546His) c.4191A>C (p.Gln1397His) c.3528A>C (p.Gln1176His) c.8043A>C (p.Gln2681His) | |
5 | g.13770914T>A | CA359205037 | DNAH5 | c.9440A>T (p.Gln3147Leu) c.9395A>T (p.Gln3132Leu) n.152A>T c.9548A>T (p.Gln3183Leu) c.8453A>T (p.Gln2818Leu) c.4637A>T (p.Gln1546Leu) c.4190A>T (p.Gln1397Leu) c.3527A>T (p.Gln1176Leu) c.8042A>T (p.Gln2681Leu) | |
5 | g.13770914T>C | CA359205038 | DNAH5 | c.9440A>G (p.Gln3147Arg) c.9395A>G (p.Gln3132Arg) n.152A>G c.9548A>G (p.Gln3183Arg) c.8453A>G (p.Gln2818Arg) c.4637A>G (p.Gln1546Arg) c.4190A>G (p.Gln1397Arg) c.3527A>G (p.Gln1176Arg) c.8042A>G (p.Gln2681Arg) | |
5 | g.13770914T>G | CA359205041 | DNAH5 | c.9440A>C (p.Gln3147Pro) c.9395A>C (p.Gln3132Pro) n.152A>C c.9548A>C (p.Gln3183Pro) c.8453A>C (p.Gln2818Pro) c.4637A>C (p.Gln1546Pro) c.4190A>C (p.Gln1397Pro) c.3527A>C (p.Gln1176Pro) c.8042A>C (p.Gln2681Pro) | |
5 | g.13770915G>A | CA359205047 | DNAH5 | c.9439C>T (p.Gln3147Ter) c.9394C>T (p.Gln3132Ter) n.151C>T c.9547C>T (p.Gln3183Ter) c.8452C>T (p.Gln2818Ter) c.4636C>T (p.Gln1546Ter) c.4189C>T (p.Gln1397Ter) c.3526C>T (p.Gln1176Ter) c.8041C>T (p.Gln2681Ter) | COSMIC |
5 | g.13770915G>C | CA359205054 | DNAH5 | c.9439C>G (p.Gln3147Glu) c.9394C>G (p.Gln3132Glu) n.151C>G c.9547C>G (p.Gln3183Glu) c.8452C>G (p.Gln2818Glu) c.4636C>G (p.Gln1546Glu) c.4189C>G (p.Gln1397Glu) c.3526C>G (p.Gln1176Glu) c.8041C>G (p.Gln2681Glu) | |
5 | g.13770915G>T | CA359205044 | DNAH5 | c.9439C>A (p.Gln3147Lys) c.9394C>A (p.Gln3132Lys) n.151C>A c.9547C>A (p.Gln3183Lys) c.8452C>A (p.Gln2818Lys) c.4636C>A (p.Gln1546Lys) c.4189C>A (p.Gln1397Lys) c.3526C>A (p.Gln1176Lys) c.8041C>A (p.Gln2681Lys) | |
5 | g.13770916G>A | CA443535719 | DNAH5 | c.9438C>T (p.Val3146=) c.9393C>T (p.Val3131=) n.150C>T c.9546C>T (p.Val3182=) c.8451C>T (p.Val2817=) c.4635C>T (p.Val1545=) c.4188C>T (p.Val1396=) c.3525C>T (p.Val1175=) c.8040C>T (p.Val2680=) | |
5 | g.13770916G>C | CA443535720 | DNAH5 | c.9438C>G (p.Val3146=) c.9393C>G (p.Val3131=) n.150C>G c.9546C>G (p.Val3182=) c.8451C>G (p.Val2817=) c.4635C>G (p.Val1545=) c.4188C>G (p.Val1396=) c.3525C>G (p.Val1175=) c.8040C>G (p.Val2680=) | |
5 | g.13770916G>T | CA443535721 | DNAH5 | c.9438C>A (p.Val3146=) c.9393C>A (p.Val3131=) n.150C>A c.9546C>A (p.Val3182=) c.8451C>A (p.Val2817=) c.4635C>A (p.Val1545=) c.4188C>A (p.Val1396=) c.3525C>A (p.Val1175=) c.8040C>A (p.Val2680=) | |
5 | g.13770917A= | CA1528431235 | DNAH5 | c.9437T= (p.Val3146=) c.9392T= (p.Val3131=) n.149T= c.9545T= (p.Val3182=) c.8450T= (p.Val2817=) c.4634T= (p.Val1545=) c.4187T= (p.Val1396=) c.3524T= (p.Val1175=) c.8039T= (p.Val2680=) | |
5 | g.13770917A>C | CA359205057 | DNAH5 | c.9437T>G (p.Val3146Gly) c.9392T>G (p.Val3131Gly) n.149T>G c.9545T>G (p.Val3182Gly) c.8450T>G (p.Val2817Gly) c.4634T>G (p.Val1545Gly) c.4187T>G (p.Val1396Gly) c.3524T>G (p.Val1175Gly) c.8039T>G (p.Val2680Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770917A>G | CA359205069 | DNAH5 | c.9437T>C (p.Val3146Ala) c.9392T>C (p.Val3131Ala) n.149T>C c.9545T>C (p.Val3182Ala) c.8450T>C (p.Val2817Ala) c.4634T>C (p.Val1545Ala) c.4187T>C (p.Val1396Ala) c.3524T>C (p.Val1175Ala) c.8039T>C (p.Val2680Ala) | |
5 | g.13770917A>T | CA359205073 | DNAH5 | c.9437T>A (p.Val3146Asp) c.9392T>A (p.Val3131Asp) n.149T>A c.9545T>A (p.Val3182Asp) c.8450T>A (p.Val2817Asp) c.4634T>A (p.Val1545Asp) c.4187T>A (p.Val1396Asp) c.3524T>A (p.Val1175Asp) c.8039T>A (p.Val2680Asp) | |
5 | g.13770918C>A | CA359205077 | DNAH5 | c.9436G>T (p.Val3146Phe) c.9391G>T (p.Val3131Phe) n.148G>T c.9544G>T (p.Val3182Phe) c.8449G>T (p.Val2817Phe) c.4633G>T (p.Val1545Phe) c.4186G>T (p.Val1396Phe) c.3523G>T (p.Val1175Phe) c.8038G>T (p.Val2680Phe) | |
5 | g.13770918C>G | CA359205079 | DNAH5 | c.9436G>C (p.Val3146Leu) c.9391G>C (p.Val3131Leu) n.148G>C c.9544G>C (p.Val3182Leu) c.8449G>C (p.Val2817Leu) c.4633G>C (p.Val1545Leu) c.4186G>C (p.Val1396Leu) c.3523G>C (p.Val1175Leu) c.8038G>C (p.Val2680Leu) | |
5 | g.13770918C>T | CA359205081 | DNAH5 | c.9436G>A (p.Val3146Ile) c.9391G>A (p.Val3131Ile) n.148G>A c.9544G>A (p.Val3182Ile) c.8449G>A (p.Val2817Ile) c.4633G>A (p.Val1545Ile) c.4186G>A (p.Val1396Ile) c.3523G>A (p.Val1175Ile) c.8038G>A (p.Val2680Ile) | COSMIC |
5 | g.13770919C>A | CA443535731 | DNAH5 | c.9435G>T (p.Val3145=) c.9390G>T (p.Val3130=) n.147G>T c.9543G>T (p.Val3181=) c.8448G>T (p.Val2816=) c.4632G>T (p.Val1544=) c.4185G>T (p.Val1395=) c.3522G>T (p.Val1174=) c.8037G>T (p.Val2679=) | |
5 | g.13770919C>G | CA443535734 | DNAH5 | c.9435G>C (p.Val3145=) c.9390G>C (p.Val3130=) n.147G>C c.9543G>C (p.Val3181=) c.8448G>C (p.Val2816=) c.4632G>C (p.Val1544=) c.4185G>C (p.Val1395=) c.3522G>C (p.Val1174=) c.8037G>C (p.Val2679=) | |
5 | g.13770919C>T | CA443535737 | DNAH5 | c.9435G>A (p.Val3145=) c.9390G>A (p.Val3130=) n.147G>A c.9543G>A (p.Val3181=) c.8448G>A (p.Val2816=) c.4632G>A (p.Val1544=) c.4185G>A (p.Val1395=) c.3522G>A (p.Val1174=) c.8037G>A (p.Val2679=) | |
5 | g.13770920A>C | CA359205092 | DNAH5 | c.9434T>G (p.Val3145Gly) c.9389T>G (p.Val3130Gly) n.146T>G c.9542T>G (p.Val3181Gly) c.8447T>G (p.Val2816Gly) c.4631T>G (p.Val1544Gly) c.4184T>G (p.Val1395Gly) c.3521T>G (p.Val1174Gly) c.8036T>G (p.Val2679Gly) | |
5 | g.13770920A>G | CA359205086 | DNAH5 | c.9434T>C (p.Val3145Ala) c.9389T>C (p.Val3130Ala) n.146T>C c.9542T>C (p.Val3181Ala) c.8447T>C (p.Val2816Ala) c.4631T>C (p.Val1544Ala) c.4184T>C (p.Val1395Ala) c.3521T>C (p.Val1174Ala) c.8036T>C (p.Val2679Ala) | |
5 | g.13770920A>T | CA359205088 | DNAH5 | c.9434T>A (p.Val3145Glu) c.9389T>A (p.Val3130Glu) n.146T>A c.9542T>A (p.Val3181Glu) c.8447T>A (p.Val2816Glu) c.4631T>A (p.Val1544Glu) c.4184T>A (p.Val1395Glu) c.3521T>A (p.Val1174Glu) c.8036T>A (p.Val2679Glu) | |
5 | g.13770921C>A | CA359205095 | DNAH5 | c.9433G>T (p.Val3145Leu) c.9388G>T (p.Val3130Leu) n.145G>T c.9541G>T (p.Val3181Leu) c.8446G>T (p.Val2816Leu) c.4630G>T (p.Val1544Leu) c.4183G>T (p.Val1395Leu) c.3520G>T (p.Val1174Leu) c.8035G>T (p.Val2679Leu) | |
5 | g.13770921C>G | CA359205100 | DNAH5 | c.9433G>C (p.Val3145Leu) c.9388G>C (p.Val3130Leu) n.145G>C c.9541G>C (p.Val3181Leu) c.8446G>C (p.Val2816Leu) c.4630G>C (p.Val1544Leu) c.4183G>C (p.Val1395Leu) c.3520G>C (p.Val1174Leu) c.8035G>C (p.Val2679Leu) | |
5 | g.13770921C>T | CA359205102 | DNAH5 | c.9433G>A (p.Val3145Met) c.9388G>A (p.Val3130Met) n.145G>A c.9541G>A (p.Val3181Met) c.8446G>A (p.Val2816Met) c.4630G>A (p.Val1544Met) c.4183G>A (p.Val1395Met) c.3520G>A (p.Val1174Met) c.8035G>A (p.Val2679Met) | |
5 | g.13770922C>A | CA359205105 | DNAH5 | c.9432G>T (p.Glu3144Asp) c.9387G>T (p.Glu3129Asp) n.144G>T c.9540G>T (p.Glu3180Asp) c.8445G>T (p.Glu2815Asp) c.4629G>T (p.Glu1543Asp) c.4182G>T (p.Glu1394Asp) c.3519G>T (p.Glu1173Asp) c.8034G>T (p.Glu2678Asp) | |
5 | g.13770922C= | CA1528431236 | DNAH5 | c.9432G= (p.Glu3144=) c.9387G= (p.Glu3129=) n.144G= c.9540G= (p.Glu3180=) c.8445G= (p.Glu2815=) c.4629G= (p.Glu1543=) c.4182G= (p.Glu1394=) c.3519G= (p.Glu1173=) c.8034G= (p.Glu2678=) | |
5 | g.13770922C>G | CA359205107 | DNAH5 | c.9432G>C (p.Glu3144Asp) c.9387G>C (p.Glu3129Asp) n.144G>C c.9540G>C (p.Glu3180Asp) c.8445G>C (p.Glu2815Asp) c.4629G>C (p.Glu1543Asp) c.4182G>C (p.Glu1394Asp) c.3519G>C (p.Glu1173Asp) c.8034G>C (p.Glu2678Asp) | |
5 | g.13770922C>T | CA443535753 | DNAH5 | c.9432G>A (p.Glu3144=) c.9387G>A (p.Glu3129=) n.144G>A c.9540G>A (p.Glu3180=) c.8445G>A (p.Glu2815=) c.4629G>A (p.Glu1543=) c.4182G>A (p.Glu1394=) c.3519G>A (p.Glu1173=) c.8034G>A (p.Glu2678=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770923T>A | CA359205110 | DNAH5 | c.9431A>T (p.Glu3144Val) c.9386A>T (p.Glu3129Val) n.143A>T c.9539A>T (p.Glu3180Val) c.8444A>T (p.Glu2815Val) c.4628A>T (p.Glu1543Val) c.4181A>T (p.Glu1394Val) c.3518A>T (p.Glu1173Val) c.8033A>T (p.Glu2678Val) | |
5 | g.13770923T>C | CA359205114 | DNAH5 | c.9431A>G (p.Glu3144Gly) c.9386A>G (p.Glu3129Gly) n.143A>G c.9539A>G (p.Glu3180Gly) c.8444A>G (p.Glu2815Gly) c.4628A>G (p.Glu1543Gly) c.4181A>G (p.Glu1394Gly) c.3518A>G (p.Glu1173Gly) c.8033A>G (p.Glu2678Gly) | |
5 | g.13770923T>G | CA359205112 | DNAH5 | c.9431A>C (p.Glu3144Ala) c.9386A>C (p.Glu3129Ala) n.143A>C c.9539A>C (p.Glu3180Ala) c.8444A>C (p.Glu2815Ala) c.4628A>C (p.Glu1543Ala) c.4181A>C (p.Glu1394Ala) c.3518A>C (p.Glu1173Ala) c.8033A>C (p.Glu2678Ala) | |
5 | g.13770924C>A | CA359205117 | DNAH5 | c.9430G>T (p.Glu3144Ter) c.9385G>T (p.Glu3129Ter) n.142G>T c.9538G>T (p.Glu3180Ter) c.8443G>T (p.Glu2815Ter) c.4627G>T (p.Glu1543Ter) c.4180G>T (p.Glu1394Ter) c.3517G>T (p.Glu1173Ter) c.8032G>T (p.Glu2678Ter) | |
5 | g.13770924C>G | CA359205120 | DNAH5 | c.9430G>C (p.Glu3144Gln) c.9385G>C (p.Glu3129Gln) n.142G>C c.9538G>C (p.Glu3180Gln) c.8443G>C (p.Glu2815Gln) c.4627G>C (p.Glu1543Gln) c.4180G>C (p.Glu1394Gln) c.3517G>C (p.Glu1173Gln) c.8032G>C (p.Glu2678Gln) | dbSNP |
5 | g.13770924C>T | CA359205123 | DNAH5 | c.9430G>A (p.Glu3144Lys) c.9385G>A (p.Glu3129Lys) n.142G>A c.9538G>A (p.Glu3180Lys) c.8443G>A (p.Glu2815Lys) c.4627G>A (p.Glu1543Lys) c.4180G>A (p.Glu1394Lys) c.3517G>A (p.Glu1173Lys) c.8032G>A (p.Glu2678Lys) | COSMIC |
5 | g.13770925C>A | CA3202544 | DNAH5 | c.9429G>T (p.Lys3143Asn) c.9384G>T (p.Lys3128Asn) n.141G>T c.9537G>T (p.Lys3179Asn) c.8442G>T (p.Lys2814Asn) c.4626G>T (p.Lys1542Asn) c.4179G>T (p.Lys1393Asn) c.3516G>T (p.Lys1172Asn) c.8031G>T (p.Lys2677Asn) | dbSNP ExAC gnomAD v2 |
5 | g.13770925C= | CA1528431237 | DNAH5 | c.9429G= (p.Lys3143=) c.9384G= (p.Lys3128=) n.141G= c.9537G= (p.Lys3179=) c.8442G= (p.Lys2814=) c.4626G= (p.Lys1542=) c.4179G= (p.Lys1393=) c.3516G= (p.Lys1172=) c.8031G= (p.Lys2677=) | |
5 | g.13770925C>G | CA359205127 | DNAH5 | c.9429G>C (p.Lys3143Asn) c.9384G>C (p.Lys3128Asn) n.141G>C c.9537G>C (p.Lys3179Asn) c.8442G>C (p.Lys2814Asn) c.4626G>C (p.Lys1542Asn) c.4179G>C (p.Lys1393Asn) c.3516G>C (p.Lys1172Asn) c.8031G>C (p.Lys2677Asn) | |
5 | g.13770925C>T | CA443535768 | DNAH5 | c.9429G>A (p.Lys3143=) c.9384G>A (p.Lys3128=) n.141G>A c.9537G>A (p.Lys3179=) c.8442G>A (p.Lys2814=) c.4626G>A (p.Lys1542=) c.4179G>A (p.Lys1393=) c.3516G>A (p.Lys1172=) c.8031G>A (p.Lys2677=) | gnomAD v4 |
5 | g.13770926T>A | CA359205131 | DNAH5 | c.9428A>T (p.Lys3143Met) c.9383A>T (p.Lys3128Met) n.140A>T c.9536A>T (p.Lys3179Met) c.8441A>T (p.Lys2814Met) c.4625A>T (p.Lys1542Met) c.4178A>T (p.Lys1393Met) c.3515A>T (p.Lys1172Met) c.8030A>T (p.Lys2677Met) | |
5 | g.13770926T>C | CA359205133 | DNAH5 | c.9428A>G (p.Lys3143Arg) c.9383A>G (p.Lys3128Arg) n.140A>G c.9536A>G (p.Lys3179Arg) c.8441A>G (p.Lys2814Arg) c.4625A>G (p.Lys1542Arg) c.4178A>G (p.Lys1393Arg) c.3515A>G (p.Lys1172Arg) c.8030A>G (p.Lys2677Arg) | |
5 | g.13770926T>G | CA359205136 | DNAH5 | c.9428A>C (p.Lys3143Thr) c.9383A>C (p.Lys3128Thr) n.140A>C c.9536A>C (p.Lys3179Thr) c.8441A>C (p.Lys2814Thr) c.4625A>C (p.Lys1542Thr) c.4178A>C (p.Lys1393Thr) c.3515A>C (p.Lys1172Thr) c.8030A>C (p.Lys2677Thr) | |
5 | g.13770927T>A | CA3202545 | DNAH5 | c.9427A>T (p.Lys3143Ter) c.9382A>T (p.Lys3128Ter) n.139A>T c.9535A>T (p.Lys3179Ter) c.8440A>T (p.Lys2814Ter) c.4624A>T (p.Lys1542Ter) c.4177A>T (p.Lys1393Ter) c.3514A>T (p.Lys1172Ter) c.8029A>T (p.Lys2677Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13770927T>C | CA359205139 | DNAH5 | c.9427A>G (p.Lys3143Glu) c.9382A>G (p.Lys3128Glu) n.139A>G c.9535A>G (p.Lys3179Glu) c.8440A>G (p.Lys2814Glu) c.4624A>G (p.Lys1542Glu) c.4177A>G (p.Lys1393Glu) c.3514A>G (p.Lys1172Glu) c.8029A>G (p.Lys2677Glu) | dbSNP gnomAD v4 |
5 | g.13770927T>G | CA359205141 | DNAH5 | c.9427A>C (p.Lys3143Gln) c.9382A>C (p.Lys3128Gln) n.139A>C c.9535A>C (p.Lys3179Gln) c.8440A>C (p.Lys2814Gln) c.4624A>C (p.Lys1542Gln) c.4177A>C (p.Lys1393Gln) c.3514A>C (p.Lys1172Gln) c.8029A>C (p.Lys2677Gln) | |
5 | g.13770927T= | CA1528431238 | DNAH5 | c.9427A= (p.Lys3143=) c.9382A= (p.Lys3128=) n.139A= c.9535A= (p.Lys3179=) c.8440A= (p.Lys2814=) c.4624A= (p.Lys1542=) c.4177A= (p.Lys1393=) c.3514A= (p.Lys1172=) c.8029A= (p.Lys2677=) | |
5 | g.13770928C>A | CA359205143 | DNAH5 | c.9426G>T (p.Lys3142Asn) c.9381G>T (p.Lys3127Asn) n.138G>T c.9534G>T (p.Lys3178Asn) c.8439G>T (p.Lys2813Asn) c.4623G>T (p.Lys1541Asn) c.4176G>T (p.Lys1392Asn) c.3513G>T (p.Lys1171Asn) c.8028G>T (p.Lys2676Asn) | |
5 | g.13770928C>G | CA359205146 | DNAH5 | c.9426G>C (p.Lys3142Asn) c.9381G>C (p.Lys3127Asn) n.138G>C c.9534G>C (p.Lys3178Asn) c.8439G>C (p.Lys2813Asn) c.4623G>C (p.Lys1541Asn) c.4176G>C (p.Lys1392Asn) c.3513G>C (p.Lys1171Asn) c.8028G>C (p.Lys2676Asn) | |
5 | g.13770928C>T | CA443535425 | DNAH5 | c.9426G>A (p.Lys3142=) c.9381G>A (p.Lys3127=) n.138G>A c.9534G>A (p.Lys3178=) c.8439G>A (p.Lys2813=) c.4623G>A (p.Lys1541=) c.4176G>A (p.Lys1392=) c.3513G>A (p.Lys1171=) c.8028G>A (p.Lys2676=) | |
5 | g.13770929T>A | CA359205148 | DNAH5 | c.9425A>T (p.Lys3142Met) c.9380A>T (p.Lys3127Met) n.137A>T c.9533A>T (p.Lys3178Met) c.8438A>T (p.Lys2813Met) c.4622A>T (p.Lys1541Met) c.4175A>T (p.Lys1392Met) c.3512A>T (p.Lys1171Met) c.8027A>T (p.Lys2676Met) | |
5 | g.13770929T>C | CA359205153 | DNAH5 | c.9425A>G (p.Lys3142Arg) c.9380A>G (p.Lys3127Arg) n.137A>G c.9533A>G (p.Lys3178Arg) c.8438A>G (p.Lys2813Arg) c.4622A>G (p.Lys1541Arg) c.4175A>G (p.Lys1392Arg) c.3512A>G (p.Lys1171Arg) c.8027A>G (p.Lys2676Arg) | |
5 | g.13770929T>G | CA359205150 | DNAH5 | c.9425A>C (p.Lys3142Thr) c.9380A>C (p.Lys3127Thr) n.137A>C c.9533A>C (p.Lys3178Thr) c.8438A>C (p.Lys2813Thr) c.4622A>C (p.Lys1541Thr) c.4175A>C (p.Lys1392Thr) c.3512A>C (p.Lys1171Thr) c.8027A>C (p.Lys2676Thr) | COSMIC |
5 | g.13770930T>A | CA359205156 | DNAH5 | c.9424A>T (p.Lys3142Ter) c.9379A>T (p.Lys3127Ter) n.136A>T c.9532A>T (p.Lys3178Ter) c.8437A>T (p.Lys2813Ter) c.4621A>T (p.Lys1541Ter) c.4174A>T (p.Lys1392Ter) c.3511A>T (p.Lys1171Ter) c.8026A>T (p.Lys2676Ter) | |
5 | g.13770930T>C | CA359205159 | DNAH5 | c.9424A>G (p.Lys3142Glu) c.9379A>G (p.Lys3127Glu) n.136A>G c.9532A>G (p.Lys3178Glu) c.8437A>G (p.Lys2813Glu) c.4621A>G (p.Lys1541Glu) c.4174A>G (p.Lys1392Glu) c.3511A>G (p.Lys1171Glu) c.8026A>G (p.Lys2676Glu) | dbSNP gnomAD v4 |
5 | g.13770930T>G | CA359205157 | DNAH5 | c.9424A>C (p.Lys3142Gln) c.9379A>C (p.Lys3127Gln) n.136A>C c.9532A>C (p.Lys3178Gln) c.8437A>C (p.Lys2813Gln) c.4621A>C (p.Lys1541Gln) c.4174A>C (p.Lys1392Gln) c.3511A>C (p.Lys1171Gln) c.8026A>C (p.Lys2676Gln) | |
5 | g.13770930T= | CA1528431239 | DNAH5 | c.9424A= (p.Lys3142=) c.9379A= (p.Lys3127=) n.136A= c.9532A= (p.Lys3178=) c.8437A= (p.Lys2813=) c.4621A= (p.Lys1541=) c.4174A= (p.Lys1392=) c.3511A= (p.Lys1171=) c.8026A= (p.Lys2676=) | |
5 | g.13770931G>A | CA443535427 | DNAH5 | c.9423C>T (p.Ile3141=) c.9378C>T (p.Ile3126=) n.135C>T c.9531C>T (p.Ile3177=) c.8436C>T (p.Ile2812=) c.4620C>T (p.Ile1540=) c.4173C>T (p.Ile1391=) c.3510C>T (p.Ile1170=) c.8025C>T (p.Ile2675=) | |
5 | g.13770931G>C | CA359205162 | DNAH5 | c.9423C>G (p.Ile3141Met) c.9378C>G (p.Ile3126Met) n.135C>G c.9531C>G (p.Ile3177Met) c.8436C>G (p.Ile2812Met) c.4620C>G (p.Ile1540Met) c.4173C>G (p.Ile1391Met) c.3510C>G (p.Ile1170Met) c.8025C>G (p.Ile2675Met) | |
5 | g.13770931G>T | CA443535426 | DNAH5 | c.9423C>A (p.Ile3141=) c.9378C>A (p.Ile3126=) n.135C>A c.9531C>A (p.Ile3177=) c.8436C>A (p.Ile2812=) c.4620C>A (p.Ile1540=) c.4173C>A (p.Ile1391=) c.3510C>A (p.Ile1170=) c.8025C>A (p.Ile2675=) | ClinVar dbSNP |
5 | g.13770932A>C | CA359205164 | DNAH5 | c.9422T>G (p.Ile3141Ser) c.9377T>G (p.Ile3126Ser) n.134T>G c.9530T>G (p.Ile3177Ser) c.8435T>G (p.Ile2812Ser) c.4619T>G (p.Ile1540Ser) c.4172T>G (p.Ile1391Ser) c.3509T>G (p.Ile1170Ser) c.8024T>G (p.Ile2675Ser) | |
5 | g.13770932A>G | CA359205168 | DNAH5 | c.9422T>C (p.Ile3141Thr) c.9377T>C (p.Ile3126Thr) n.134T>C c.9530T>C (p.Ile3177Thr) c.8435T>C (p.Ile2812Thr) c.4619T>C (p.Ile1540Thr) c.4172T>C (p.Ile1391Thr) c.3509T>C (p.Ile1170Thr) c.8024T>C (p.Ile2675Thr) | |
5 | g.13770932A>T | CA359205171 | DNAH5 | c.9422T>A (p.Ile3141Asn) c.9377T>A (p.Ile3126Asn) n.134T>A c.9530T>A (p.Ile3177Asn) c.8435T>A (p.Ile2812Asn) c.4619T>A (p.Ile1540Asn) c.4172T>A (p.Ile1391Asn) c.3509T>A (p.Ile1170Asn) c.8024T>A (p.Ile2675Asn) | |
5 | g.13770933T>A | CA359205174 | DNAH5 | c.9421A>T (p.Ile3141Phe) c.9376A>T (p.Ile3126Phe) n.133A>T c.9529A>T (p.Ile3177Phe) c.8434A>T (p.Ile2812Phe) c.4618A>T (p.Ile1540Phe) c.4171A>T (p.Ile1391Phe) c.3508A>T (p.Ile1170Phe) c.8023A>T (p.Ile2675Phe) | |
5 | g.13770933T>C | CA3202546 | DNAH5 | c.9421A>G (p.Ile3141Val) c.9376A>G (p.Ile3126Val) n.133A>G c.9529A>G (p.Ile3177Val) c.8434A>G (p.Ile2812Val) c.4618A>G (p.Ile1540Val) c.4171A>G (p.Ile1391Val) c.3508A>G (p.Ile1170Val) c.8023A>G (p.Ile2675Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770933T>G | CA359205182 | DNAH5 | c.9421A>C (p.Ile3141Leu) c.9376A>C (p.Ile3126Leu) n.133A>C c.9529A>C (p.Ile3177Leu) c.8434A>C (p.Ile2812Leu) c.4618A>C (p.Ile1540Leu) c.4171A>C (p.Ile1391Leu) c.3508A>C (p.Ile1170Leu) c.8023A>C (p.Ile2675Leu) | |
5 | g.13770933T= | CA1528431240 | DNAH5 | c.9421A= (p.Ile3141=) c.9376A= (p.Ile3126=) n.133A= c.9529A= (p.Ile3177=) c.8434A= (p.Ile2812=) c.4618A= (p.Ile1540=) c.4171A= (p.Ile1391=) c.3508A= (p.Ile1170=) c.8023A= (p.Ile2675=) | |
5 | g.13770934T>A | CA359205184 | DNAH5 | c.9420A>T (p.Glu3140Asp) c.9375A>T (p.Glu3125Asp) n.132A>T c.9528A>T (p.Glu3176Asp) c.8433A>T (p.Glu2811Asp) c.4617A>T (p.Glu1539Asp) c.4170A>T (p.Glu1390Asp) c.3507A>T (p.Glu1169Asp) c.8022A>T (p.Glu2674Asp) | |
5 | g.13770934T>C | CA443535428 | DNAH5 | c.9420A>G (p.Glu3140=) c.9375A>G (p.Glu3125=) n.132A>G c.9528A>G (p.Glu3176=) c.8433A>G (p.Glu2811=) c.4617A>G (p.Glu1539=) c.4170A>G (p.Glu1390=) c.3507A>G (p.Glu1169=) c.8022A>G (p.Glu2674=) | ClinVar gnomAD v4 |
5 | g.13770934T>G | CA359205187 | DNAH5 | c.9420A>C (p.Glu3140Asp) c.9375A>C (p.Glu3125Asp) n.132A>C c.9528A>C (p.Glu3176Asp) c.8433A>C (p.Glu2811Asp) c.4617A>C (p.Glu1539Asp) c.4170A>C (p.Glu1390Asp) c.3507A>C (p.Glu1169Asp) c.8022A>C (p.Glu2674Asp) | |
5 | g.13770935T>A | CA359205189 | DNAH5 | c.9419A>T (p.Glu3140Val) c.9374A>T (p.Glu3125Val) n.131A>T c.9527A>T (p.Glu3176Val) c.8432A>T (p.Glu2811Val) c.4616A>T (p.Glu1539Val) c.4169A>T (p.Glu1390Val) c.3506A>T (p.Glu1169Val) c.8021A>T (p.Glu2674Val) | |
5 | g.13770935T>C | CA359205191 | DNAH5 | c.9419A>G (p.Glu3140Gly) c.9374A>G (p.Glu3125Gly) n.131A>G c.9527A>G (p.Glu3176Gly) c.8432A>G (p.Glu2811Gly) c.4616A>G (p.Glu1539Gly) c.4169A>G (p.Glu1390Gly) c.3506A>G (p.Glu1169Gly) c.8021A>G (p.Glu2674Gly) | |
5 | g.13770935T>G | CA359205193 | DNAH5 | c.9419A>C (p.Glu3140Ala) c.9374A>C (p.Glu3125Ala) n.131A>C c.9527A>C (p.Glu3176Ala) c.8432A>C (p.Glu2811Ala) c.4616A>C (p.Glu1539Ala) c.4169A>C (p.Glu1390Ala) c.3506A>C (p.Glu1169Ala) c.8021A>C (p.Glu2674Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770935T= | CA1528431241 | DNAH5 | c.9419A= (p.Glu3140=) c.9374A= (p.Glu3125=) n.131A= c.9527A= (p.Glu3176=) c.8432A= (p.Glu2811=) c.4616A= (p.Glu1539=) c.4169A= (p.Glu1390=) c.3506A= (p.Glu1169=) c.8021A= (p.Glu2674=) | |
5 | g.13770936C>A | CA359205195 | DNAH5 | c.9418G>T (p.Glu3140Ter) c.9373G>T (p.Glu3125Ter) n.130G>T c.9526G>T (p.Glu3176Ter) c.8431G>T (p.Glu2811Ter) c.4615G>T (p.Glu1539Ter) c.4168G>T (p.Glu1390Ter) c.3505G>T (p.Glu1169Ter) c.8020G>T (p.Glu2674Ter) | |
5 | g.13770936C= | CA1528431242 | DNAH5 | c.9418G= (p.Glu3140=) c.9373G= (p.Glu3125=) n.130G= c.9526G= (p.Glu3176=) c.8431G= (p.Glu2811=) c.4615G= (p.Glu1539=) c.4168G= (p.Glu1390=) c.3505G= (p.Glu1169=) c.8020G= (p.Glu2674=) | |
5 | g.13770936C>G | CA3202547 | DNAH5 | c.9418G>C (p.Glu3140Gln) c.9373G>C (p.Glu3125Gln) n.130G>C c.9526G>C (p.Glu3176Gln) c.8431G>C (p.Glu2811Gln) c.4615G>C (p.Glu1539Gln) c.4168G>C (p.Glu1390Gln) c.3505G>C (p.Glu1169Gln) c.8020G>C (p.Glu2674Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770936C>T | CA359205199 | DNAH5 | c.9418G>A (p.Glu3140Lys) c.9373G>A (p.Glu3125Lys) n.130G>A c.9526G>A (p.Glu3176Lys) c.8431G>A (p.Glu2811Lys) c.4615G>A (p.Glu1539Lys) c.4168G>A (p.Glu1390Lys) c.3505G>A (p.Glu1169Lys) c.8020G>A (p.Glu2674Lys) | gnomAD v4 COSMIC |
5 | g.13770937C>A | CA359205209 | DNAH5 | c.9417G>T (p.Leu3139Phe) c.9372G>T (p.Leu3124Phe) n.129G>T c.9525G>T (p.Leu3175Phe) c.8430G>T (p.Leu2810Phe) c.4614G>T (p.Leu1538Phe) c.4167G>T (p.Leu1389Phe) c.3504G>T (p.Leu1168Phe) c.8019G>T (p.Leu2673Phe) | |
5 | g.13770937C>G | CA359205212 | DNAH5 | c.9417G>C (p.Leu3139Phe) c.9372G>C (p.Leu3124Phe) n.129G>C c.9525G>C (p.Leu3175Phe) c.8430G>C (p.Leu2810Phe) c.4614G>C (p.Leu1538Phe) c.4167G>C (p.Leu1389Phe) c.3504G>C (p.Leu1168Phe) c.8019G>C (p.Leu2673Phe) | |
5 | g.13770937C>T | CA443535429 | DNAH5 | c.9417G>A (p.Leu3139=) c.9372G>A (p.Leu3124=) n.129G>A c.9525G>A (p.Leu3175=) c.8430G>A (p.Leu2810=) c.4614G>A (p.Leu1538=) c.4167G>A (p.Leu1389=) c.3504G>A (p.Leu1168=) c.8019G>A (p.Leu2673=) | |
5 | g.13770938A>C | CA359205216 | DNAH5 | c.9416T>G (p.Leu3139Trp) c.9371T>G (p.Leu3124Trp) n.128T>G c.9524T>G (p.Leu3175Trp) c.8429T>G (p.Leu2810Trp) c.4613T>G (p.Leu1538Trp) c.4166T>G (p.Leu1389Trp) c.3503T>G (p.Leu1168Trp) c.8018T>G (p.Leu2673Trp) | |
5 | g.13770938A>G | CA359205219 | DNAH5 | c.9416T>C (p.Leu3139Ser) c.9371T>C (p.Leu3124Ser) n.128T>C c.9524T>C (p.Leu3175Ser) c.8429T>C (p.Leu2810Ser) c.4613T>C (p.Leu1538Ser) c.4166T>C (p.Leu1389Ser) c.3503T>C (p.Leu1168Ser) c.8018T>C (p.Leu2673Ser) | |
5 | g.13770938A>T | CA359205221 | DNAH5 | c.9416T>A (p.Leu3139Ter) c.9371T>A (p.Leu3124Ter) n.128T>A c.9524T>A (p.Leu3175Ter) c.8429T>A (p.Leu2810Ter) c.4613T>A (p.Leu1538Ter) c.4166T>A (p.Leu1389Ter) c.3503T>A (p.Leu1168Ter) c.8018T>A (p.Leu2673Ter) | |
5 | g.13770939A>C | CA359205224 | DNAH5 | c.9415T>G (p.Leu3139Val) c.9370T>G (p.Leu3124Val) n.127T>G c.9523T>G (p.Leu3175Val) c.8428T>G (p.Leu2810Val) c.4612T>G (p.Leu1538Val) c.4165T>G (p.Leu1389Val) c.3502T>G (p.Leu1168Val) c.8017T>G (p.Leu2673Val) | |
5 | g.13770939A>G | CA443535430 | DNAH5 | c.9415T>C (p.Leu3139=) c.9370T>C (p.Leu3124=) n.127T>C c.9523T>C (p.Leu3175=) c.8428T>C (p.Leu2810=) c.4612T>C (p.Leu1538=) c.4165T>C (p.Leu1389=) c.3502T>C (p.Leu1168=) c.8017T>C (p.Leu2673=) | |
5 | g.13770939A>T | CA359205227 | DNAH5 | c.9415T>A (p.Leu3139Met) c.9370T>A (p.Leu3124Met) n.127T>A c.9523T>A (p.Leu3175Met) c.8428T>A (p.Leu2810Met) c.4612T>A (p.Leu1538Met) c.4165T>A (p.Leu1389Met) c.3502T>A (p.Leu1168Met) c.8017T>A (p.Leu2673Met) | |
5 | g.13770940A>C | CA359205230 | DNAH5 | c.9414T>G (p.Ser3138Arg) c.9369T>G (p.Ser3123Arg) n.126T>G c.9522T>G (p.Ser3174Arg) c.8427T>G (p.Ser2809Arg) c.4611T>G (p.Ser1537Arg) c.4164T>G (p.Ser1388Arg) c.3501T>G (p.Ser1167Arg) c.8016T>G (p.Ser2672Arg) | |
5 | g.13770940A>G | CA443535431 | DNAH5 | c.9414T>C (p.Ser3138=) c.9369T>C (p.Ser3123=) n.126T>C c.9522T>C (p.Ser3174=) c.8427T>C (p.Ser2809=) c.4611T>C (p.Ser1537=) c.4164T>C (p.Ser1388=) c.3501T>C (p.Ser1167=) c.8016T>C (p.Ser2672=) | |
5 | g.13770940A>T | CA359205232 | DNAH5 | c.9414T>A (p.Ser3138Arg) c.9369T>A (p.Ser3123Arg) n.126T>A c.9522T>A (p.Ser3174Arg) c.8427T>A (p.Ser2809Arg) c.4611T>A (p.Ser1537Arg) c.4164T>A (p.Ser1388Arg) c.3501T>A (p.Ser1167Arg) c.8016T>A (p.Ser2672Arg) | |
5 | g.13770941C>A | CA359205237 | DNAH5 | c.9413G>T (p.Ser3138Ile) c.9368G>T (p.Ser3123Ile) n.125G>T c.9521G>T (p.Ser3174Ile) c.8426G>T (p.Ser2809Ile) c.4610G>T (p.Ser1537Ile) c.4163G>T (p.Ser1388Ile) c.3500G>T (p.Ser1167Ile) c.8015G>T (p.Ser2672Ile) | |
5 | g.13770941C>G | CA359205239 | DNAH5 | c.9413G>C (p.Ser3138Thr) c.9368G>C (p.Ser3123Thr) n.125G>C c.9521G>C (p.Ser3174Thr) c.8426G>C (p.Ser2809Thr) c.4610G>C (p.Ser1537Thr) c.4163G>C (p.Ser1388Thr) c.3500G>C (p.Ser1167Thr) c.8015G>C (p.Ser2672Thr) | |
5 | g.13770941C>T | CA359205235 | DNAH5 | c.9413G>A (p.Ser3138Asn) c.9368G>A (p.Ser3123Asn) n.125G>A c.9521G>A (p.Ser3174Asn) c.8426G>A (p.Ser2809Asn) c.4610G>A (p.Ser1537Asn) c.4163G>A (p.Ser1388Asn) c.3500G>A (p.Ser1167Asn) c.8015G>A (p.Ser2672Asn) | COSMIC |
5 | g.13770942T>A | CA359205241 | DNAH5 | c.9412A>T (p.Ser3138Cys) c.9367A>T (p.Ser3123Cys) n.124A>T c.9520A>T (p.Ser3174Cys) c.8425A>T (p.Ser2809Cys) c.4609A>T (p.Ser1537Cys) c.4162A>T (p.Ser1388Cys) c.3499A>T (p.Ser1167Cys) c.8014A>T (p.Ser2672Cys) | |
5 | g.13770942T>C | CA359205243 | DNAH5 | c.9412A>G (p.Ser3138Gly) c.9367A>G (p.Ser3123Gly) n.124A>G c.9520A>G (p.Ser3174Gly) c.8425A>G (p.Ser2809Gly) c.4609A>G (p.Ser1537Gly) c.4162A>G (p.Ser1388Gly) c.3499A>G (p.Ser1167Gly) c.8014A>G (p.Ser2672Gly) | gnomAD v4 |
5 | g.13770942T>G | CA359205245 | DNAH5 | c.9412A>C (p.Ser3138Arg) c.9367A>C (p.Ser3123Arg) n.124A>C c.9520A>C (p.Ser3174Arg) c.8425A>C (p.Ser2809Arg) c.4609A>C (p.Ser1537Arg) c.4162A>C (p.Ser1388Arg) c.3499A>C (p.Ser1167Arg) c.8014A>C (p.Ser2672Arg) | |
5 | g.13770943G>A | CA443535432 | DNAH5 | c.9411C>T (p.Cys3137=) c.9366C>T (p.Cys3122=) n.123C>T c.9519C>T (p.Cys3173=) c.8424C>T (p.Cys2808=) c.4608C>T (p.Cys1536=) c.4161C>T (p.Cys1387=) c.3498C>T (p.Cys1166=) c.8013C>T (p.Cys2671=) | ClinVar gnomAD v4 |
5 | g.13770943G>C | CA359205248 | DNAH5 | c.9411C>G (p.Cys3137Trp) c.9366C>G (p.Cys3122Trp) n.123C>G c.9519C>G (p.Cys3173Trp) c.8424C>G (p.Cys2808Trp) c.4608C>G (p.Cys1536Trp) c.4161C>G (p.Cys1387Trp) c.3498C>G (p.Cys1166Trp) c.8013C>G (p.Cys2671Trp) | |
5 | g.13770943G>T | CA359205251 | DNAH5 | c.9411C>A (p.Cys3137Ter) c.9366C>A (p.Cys3122Ter) n.123C>A c.9519C>A (p.Cys3173Ter) c.8424C>A (p.Cys2808Ter) c.4608C>A (p.Cys1536Ter) c.4161C>A (p.Cys1387Ter) c.3498C>A (p.Cys1166Ter) c.8013C>A (p.Cys2671Ter) | |
5 | g.13770944C>A | CA3202549 | DNAH5 | c.9410G>T (p.Cys3137Phe) c.9365G>T (p.Cys3122Phe) n.122G>T c.9518G>T (p.Cys3173Phe) c.8423G>T (p.Cys2808Phe) c.4607G>T (p.Cys1536Phe) c.4160G>T (p.Cys1387Phe) c.3497G>T (p.Cys1166Phe) c.8012G>T (p.Cys2671Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770944C= | CA1528431243 | DNAH5 | c.9410G= (p.Cys3137=) c.9365G= (p.Cys3122=) n.122G= c.9518G= (p.Cys3173=) c.8423G= (p.Cys2808=) c.4607G= (p.Cys1536=) c.4160G= (p.Cys1387=) c.3497G= (p.Cys1166=) c.8012G= (p.Cys2671=) | |
5 | g.13770944C>G | CA359205256 | DNAH5 | c.9410G>C (p.Cys3137Ser) c.9365G>C (p.Cys3122Ser) n.122G>C c.9518G>C (p.Cys3173Ser) c.8423G>C (p.Cys2808Ser) c.4607G>C (p.Cys1536Ser) c.4160G>C (p.Cys1387Ser) c.3497G>C (p.Cys1166Ser) c.8012G>C (p.Cys2671Ser) | |
5 | g.13770944C>T | CA3202548 | DNAH5 | c.9410G>A (p.Cys3137Tyr) c.9365G>A (p.Cys3122Tyr) n.122G>A c.9518G>A (p.Cys3173Tyr) c.8423G>A (p.Cys2808Tyr) c.4607G>A (p.Cys1536Tyr) c.4160G>A (p.Cys1387Tyr) c.3497G>A (p.Cys1166Tyr) c.8012G>A (p.Cys2671Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770945A>C | CA359205261 | DNAH5 | c.9409T>G (p.Cys3137Gly) c.9364T>G (p.Cys3122Gly) n.121T>G c.9517T>G (p.Cys3173Gly) c.8422T>G (p.Cys2808Gly) c.4606T>G (p.Cys1536Gly) c.4159T>G (p.Cys1387Gly) c.3496T>G (p.Cys1166Gly) c.8011T>G (p.Cys2671Gly) | |
5 | g.13770945A>G | CA359205264 | DNAH5 | c.9409T>C (p.Cys3137Arg) c.9364T>C (p.Cys3122Arg) n.121T>C c.9517T>C (p.Cys3173Arg) c.8422T>C (p.Cys2808Arg) c.4606T>C (p.Cys1536Arg) c.4159T>C (p.Cys1387Arg) c.3496T>C (p.Cys1166Arg) c.8011T>C (p.Cys2671Arg) | gnomAD v4 |
5 | g.13770945A>T | CA359205265 | DNAH5 | c.9409T>A (p.Cys3137Ser) c.9364T>A (p.Cys3122Ser) n.121T>A c.9517T>A (p.Cys3173Ser) c.8422T>A (p.Cys2808Ser) c.4606T>A (p.Cys1536Ser) c.4159T>A (p.Cys1387Ser) c.3496T>A (p.Cys1166Ser) c.8011T>A (p.Cys2671Ser) | |
5 | g.13770946G>A | CA443535433 | DNAH5 | c.9408C>T (p.Asp3136=) c.9363C>T (p.Asp3121=) n.120C>T c.9516C>T (p.Asp3172=) c.8421C>T (p.Asp2807=) c.4605C>T (p.Asp1535=) c.4158C>T (p.Asp1386=) c.3495C>T (p.Asp1165=) c.8010C>T (p.Asp2670=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770946G>C | CA359205267 | DNAH5 | c.9408C>G (p.Asp3136Glu) c.9363C>G (p.Asp3121Glu) n.120C>G c.9516C>G (p.Asp3172Glu) c.8421C>G (p.Asp2807Glu) c.4605C>G (p.Asp1535Glu) c.4158C>G (p.Asp1386Glu) c.3495C>G (p.Asp1165Glu) c.8010C>G (p.Asp2670Glu) | |
5 | g.13770946G= | CA1528431244 | DNAH5 | c.9408C= (p.Asp3136=) c.9363C= (p.Asp3121=) n.120C= c.9516C= (p.Asp3172=) c.8421C= (p.Asp2807=) c.4605C= (p.Asp1535=) c.4158C= (p.Asp1386=) c.3495C= (p.Asp1165=) c.8010C= (p.Asp2670=) | |
5 | g.13770946G>T | CA359205270 | DNAH5 | c.9408C>A (p.Asp3136Glu) c.9363C>A (p.Asp3121Glu) n.120C>A c.9516C>A (p.Asp3172Glu) c.8421C>A (p.Asp2807Glu) c.4605C>A (p.Asp1535Glu) c.4158C>A (p.Asp1386Glu) c.3495C>A (p.Asp1165Glu) c.8010C>A (p.Asp2670Glu) | |
5 | g.13770947T>A | CA359205279 | DNAH5 | c.9407A>T (p.Asp3136Val) c.9362A>T (p.Asp3121Val) n.119A>T c.9515A>T (p.Asp3172Val) c.8420A>T (p.Asp2807Val) c.4604A>T (p.Asp1535Val) c.4157A>T (p.Asp1386Val) c.3494A>T (p.Asp1165Val) c.8009A>T (p.Asp2670Val) | |
5 | g.13770947T>C | CA359205276 | DNAH5 | c.9407A>G (p.Asp3136Gly) c.9362A>G (p.Asp3121Gly) n.119A>G c.9515A>G (p.Asp3172Gly) c.8420A>G (p.Asp2807Gly) c.4604A>G (p.Asp1535Gly) c.4157A>G (p.Asp1386Gly) c.3494A>G (p.Asp1165Gly) c.8009A>G (p.Asp2670Gly) | gnomAD v4 |
5 | g.13770947T>G | CA3202550 | DNAH5 | c.9407A>C (p.Asp3136Ala) c.9362A>C (p.Asp3121Ala) n.119A>C c.9515A>C (p.Asp3172Ala) c.8420A>C (p.Asp2807Ala) c.4604A>C (p.Asp1535Ala) c.4157A>C (p.Asp1386Ala) c.3494A>C (p.Asp1165Ala) c.8009A>C (p.Asp2670Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770947T= | CA1528431245 | DNAH5 | c.9407A= (p.Asp3136=) c.9362A= (p.Asp3121=) n.119A= c.9515A= (p.Asp3172=) c.8420A= (p.Asp2807=) c.4604A= (p.Asp1535=) c.4157A= (p.Asp1386=) c.3494A= (p.Asp1165=) c.8009A= (p.Asp2670=) | |
5 | g.13770948C>A | CA359205283 | DNAH5 | c.9406G>T (p.Asp3136Tyr) c.9361G>T (p.Asp3121Tyr) n.118G>T c.9514G>T (p.Asp3172Tyr) c.8419G>T (p.Asp2807Tyr) c.4603G>T (p.Asp1535Tyr) c.4156G>T (p.Asp1386Tyr) c.3493G>T (p.Asp1165Tyr) c.8008G>T (p.Asp2670Tyr) | |
5 | g.13770948C>G | CA359205284 | DNAH5 | c.9406G>C (p.Asp3136His) c.9361G>C (p.Asp3121His) n.118G>C c.9514G>C (p.Asp3172His) c.8419G>C (p.Asp2807His) c.4603G>C (p.Asp1535His) c.4156G>C (p.Asp1386His) c.3493G>C (p.Asp1165His) c.8008G>C (p.Asp2670His) | |
5 | g.13770948C>T | CA359205286 | DNAH5 | c.9406G>A (p.Asp3136Asn) c.9361G>A (p.Asp3121Asn) n.118G>A c.9514G>A (p.Asp3172Asn) c.8419G>A (p.Asp2807Asn) c.4603G>A (p.Asp1535Asn) c.4156G>A (p.Asp1386Asn) c.3493G>A (p.Asp1165Asn) c.8008G>A (p.Asp2670Asn) | |
5 | g.13770949A>C | CA359205287 | DNAH5 | c.9405T>G (p.Ile3135Met) c.9360T>G (p.Ile3120Met) n.117T>G c.9513T>G (p.Ile3171Met) c.8418T>G (p.Ile2806Met) c.4602T>G (p.Ile1534Met) c.4155T>G (p.Ile1385Met) c.3492T>G (p.Ile1164Met) c.8007T>G (p.Ile2669Met) | |
5 | g.13770949A>G | CA443535436 | DNAH5 | c.9405T>C (p.Ile3135=) c.9360T>C (p.Ile3120=) n.117T>C c.9513T>C (p.Ile3171=) c.8418T>C (p.Ile2806=) c.4602T>C (p.Ile1534=) c.4155T>C (p.Ile1385=) c.3492T>C (p.Ile1164=) c.8007T>C (p.Ile2669=) | |
5 | g.13770949A>T | CA443535437 | DNAH5 | c.9405T>A (p.Ile3135=) c.9360T>A (p.Ile3120=) n.117T>A c.9513T>A (p.Ile3171=) c.8418T>A (p.Ile2806=) c.4602T>A (p.Ile1534=) c.4155T>A (p.Ile1385=) c.3492T>A (p.Ile1164=) c.8007T>A (p.Ile2669=) | |
5 | g.13770950del | CA2673268303 | DNAH5 | c.9405del (p.Ile3135MetfsTer?) c.9360del (p.Ile3120MetfsTer?) n.117del c.9513del (p.Ile3171MetfsTer?) c.8418del (p.Ile2806MetfsTer?) c.4602del (p.Ile1534MetfsTer?) c.4155del (p.Ile1385MetfsTer?) c.3492del (p.Ile1164MetfsTer?) c.8007del (p.Ile2669MetfsTer?) | gnomAD v4 |
5 | g.13770949_13770953delinsAATAT | CA1528431246 | DNAH5 | c.9401_9405delinsATATT (p.Asp3134=) c.9356_9360delinsATATT (p.Asp3119=) n.113_117delinsATATT c.9509_9513delinsATATT (p.Asp3170=) c.8414_8418delinsATATT (p.Asp2805=) c.4598_4602delinsATATT (p.Asp1533=) c.4151_4155delinsATATT (p.Asp1384=) c.3488_3492delinsATATT (p.Asp1163=) c.8003_8007delinsATATT (p.Asp2668=) | |
5 | g.13770950A= | CA1528431248 | DNAH5 | c.9404T= (p.Ile3135=) c.9359T= (p.Ile3120=) n.116T= c.9512T= (p.Ile3171=) c.8417T= (p.Ile2806=) c.4601T= (p.Ile1534=) c.4154T= (p.Ile1385=) c.3491T= (p.Ile1164=) c.8006T= (p.Ile2669=) | |
5 | g.13770950A>C | CA359205289 | DNAH5 | c.9404T>G (p.Ile3135Ser) c.9359T>G (p.Ile3120Ser) n.116T>G c.9512T>G (p.Ile3171Ser) c.8417T>G (p.Ile2806Ser) c.4601T>G (p.Ile1534Ser) c.4154T>G (p.Ile1385Ser) c.3491T>G (p.Ile1164Ser) c.8006T>G (p.Ile2669Ser) | |
5 | g.13770950A>G | CA3202551 | DNAH5 | c.9404T>C (p.Ile3135Thr) c.9359T>C (p.Ile3120Thr) n.116T>C c.9512T>C (p.Ile3171Thr) c.8417T>C (p.Ile2806Thr) c.4601T>C (p.Ile1534Thr) c.4154T>C (p.Ile1385Thr) c.3491T>C (p.Ile1164Thr) c.8006T>C (p.Ile2669Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770950A>T | CA359205292 | DNAH5 | c.9404T>A (p.Ile3135Asn) c.9359T>A (p.Ile3120Asn) n.116T>A c.9512T>A (p.Ile3171Asn) c.8417T>A (p.Ile2806Asn) c.4601T>A (p.Ile1534Asn) c.4154T>A (p.Ile1385Asn) c.3491T>A (p.Ile1164Asn) c.8006T>A (p.Ile2669Asn) | |
5 | g.13770950_13770953del | CA1528431247 | DNAH5 | c.9401_9404del (p.Asp3134ValfsTer?) c.9356_9359del (p.Asp3119ValfsTer?) n.113_116del c.9509_9512del (p.Asp3170ValfsTer?) c.8414_8417del (p.Asp2805ValfsTer?) c.4598_4601del (p.Asp1533ValfsTer?) c.4151_4154del (p.Asp1384ValfsTer?) c.3488_3491del (p.Asp1163ValfsTer?) c.8003_8006del (p.Asp2668ValfsTer?) | dbSNP |
5 | g.13770951T>A | CA359205294 | DNAH5 | c.9403A>T (p.Ile3135Phe) c.9358A>T (p.Ile3120Phe) n.115A>T c.9511A>T (p.Ile3171Phe) c.8416A>T (p.Ile2806Phe) c.4600A>T (p.Ile1534Phe) c.4153A>T (p.Ile1385Phe) c.3490A>T (p.Ile1164Phe) c.8005A>T (p.Ile2669Phe) | |
5 | g.13770951T>C | CA359205295 | DNAH5 | c.9403A>G (p.Ile3135Val) c.9358A>G (p.Ile3120Val) n.115A>G c.9511A>G (p.Ile3171Val) c.8416A>G (p.Ile2806Val) c.4600A>G (p.Ile1534Val) c.4153A>G (p.Ile1385Val) c.3490A>G (p.Ile1164Val) c.8005A>G (p.Ile2669Val) | dbSNP |
5 | g.13770951T>G | CA359205297 | DNAH5 | c.9403A>C (p.Ile3135Leu) c.9358A>C (p.Ile3120Leu) n.115A>C c.9511A>C (p.Ile3171Leu) c.8416A>C (p.Ile2806Leu) c.4600A>C (p.Ile1534Leu) c.4153A>C (p.Ile1385Leu) c.3490A>C (p.Ile1164Leu) c.8005A>C (p.Ile2669Leu) | |
5 | g.13770951T= | CA1528431249 | DNAH5 | c.9403A= (p.Ile3135=) c.9358A= (p.Ile3120=) n.115A= c.9511A= (p.Ile3171=) c.8416A= (p.Ile2806=) c.4600A= (p.Ile1534=) c.4153A= (p.Ile1385=) c.3490A= (p.Ile1164=) c.8005A= (p.Ile2669=) | |
5 | g.13770952A>C | CA359205298 | DNAH5 | c.9402T>G (p.Asp3134Glu) c.9357T>G (p.Asp3119Glu) n.114T>G c.9510T>G (p.Asp3170Glu) c.8415T>G (p.Asp2805Glu) c.4599T>G (p.Asp1533Glu) c.4152T>G (p.Asp1384Glu) c.3489T>G (p.Asp1163Glu) c.8004T>G (p.Asp2668Glu) | |
5 | g.13770952A>G | CA443535439 | DNAH5 | c.9402T>C (p.Asp3134=) c.9357T>C (p.Asp3119=) n.114T>C c.9510T>C (p.Asp3170=) c.8415T>C (p.Asp2805=) c.4599T>C (p.Asp1533=) c.4152T>C (p.Asp1384=) c.3489T>C (p.Asp1163=) c.8004T>C (p.Asp2668=) | ClinVar gnomAD v4 |
5 | g.13770952A>T | CA359205299 | DNAH5 | c.9402T>A (p.Asp3134Glu) c.9357T>A (p.Asp3119Glu) n.114T>A c.9510T>A (p.Asp3170Glu) c.8415T>A (p.Asp2805Glu) c.4599T>A (p.Asp1533Glu) c.4152T>A (p.Asp1384Glu) c.3489T>A (p.Asp1163Glu) c.8004T>A (p.Asp2668Glu) | |
5 | g.13770954_13770956del | CA2673268304 | DNAH5 | c.9400_9402del (p.Asp3134del) c.9355_9357del (p.Asp3119del) n.112_114del c.9508_9510del (p.Asp3170del) c.8413_8415del (p.Asp2805del) c.4597_4599del (p.Asp1533del) c.4150_4152del (p.Asp1384del) c.3487_3489del (p.Asp1163del) c.8002_8004del (p.Asp2668del) | gnomAD v4 |
5 | g.13770953T>A | CA359205304 | DNAH5 | c.9401A>T (p.Asp3134Val) c.9356A>T (p.Asp3119Val) n.113A>T c.9509A>T (p.Asp3170Val) c.8414A>T (p.Asp2805Val) c.4598A>T (p.Asp1533Val) c.4151A>T (p.Asp1384Val) c.3488A>T (p.Asp1163Val) c.8003A>T (p.Asp2668Val) | |
5 | g.13770953T>C | CA3202552 | DNAH5 | c.9401A>G (p.Asp3134Gly) c.9356A>G (p.Asp3119Gly) n.113A>G c.9509A>G (p.Asp3170Gly) c.8414A>G (p.Asp2805Gly) c.4598A>G (p.Asp1533Gly) c.4151A>G (p.Asp1384Gly) c.3488A>G (p.Asp1163Gly) c.8003A>G (p.Asp2668Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770953T>G | CA359205301 | DNAH5 | c.9401A>C (p.Asp3134Ala) c.9356A>C (p.Asp3119Ala) n.113A>C c.9509A>C (p.Asp3170Ala) c.8414A>C (p.Asp2805Ala) c.4598A>C (p.Asp1533Ala) c.4151A>C (p.Asp1384Ala) c.3488A>C (p.Asp1163Ala) c.8003A>C (p.Asp2668Ala) | |
5 | g.13770953T= | CA1528431250 | DNAH5 | c.9401A= (p.Asp3134=) c.9356A= (p.Asp3119=) n.113A= c.9509A= (p.Asp3170=) c.8414A= (p.Asp2805=) c.4598A= (p.Asp1533=) c.4151A= (p.Asp1384=) c.3488A= (p.Asp1163=) c.8003A= (p.Asp2668=) | |
5 | g.13770954C>A | CA359205306 | DNAH5 | c.9400G>T (p.Asp3134Tyr) c.9355G>T (p.Asp3119Tyr) n.112G>T c.9508G>T (p.Asp3170Tyr) c.8413G>T (p.Asp2805Tyr) c.4597G>T (p.Asp1533Tyr) c.4150G>T (p.Asp1384Tyr) c.3487G>T (p.Asp1163Tyr) c.8002G>T (p.Asp2668Tyr) | |
5 | g.13770954C= | CA1528431251 | DNAH5 | c.9400G= (p.Asp3134=) c.9355G= (p.Asp3119=) n.112G= c.9508G= (p.Asp3170=) c.8413G= (p.Asp2805=) c.4597G= (p.Asp1533=) c.4150G= (p.Asp1384=) c.3487G= (p.Asp1163=) c.8002G= (p.Asp2668=) | |
5 | g.13770954C>G | CA359205309 | DNAH5 | c.9400G>C (p.Asp3134His) c.9355G>C (p.Asp3119His) n.112G>C c.9508G>C (p.Asp3170His) c.8413G>C (p.Asp2805His) c.4597G>C (p.Asp1533His) c.4150G>C (p.Asp1384His) c.3487G>C (p.Asp1163His) c.8002G>C (p.Asp2668His) | |
5 | g.13770954C>T | CA113933116 | DNAH5 | c.9400G>A (p.Asp3134Asn) c.9355G>A (p.Asp3119Asn) n.112G>A c.9508G>A (p.Asp3170Asn) c.8413G>A (p.Asp2805Asn) c.4597G>A (p.Asp1533Asn) c.4150G>A (p.Asp1384Asn) c.3487G>A (p.Asp1163Asn) c.8002G>A (p.Asp2668Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770955A= | CA1528431252 | DNAH5 | c.9399T= (p.Tyr3133=) c.9354T= (p.Tyr3118=) n.111T= c.9507T= (p.Tyr3169=) c.8412T= (p.Tyr2804=) c.4596T= (p.Tyr1532=) c.4149T= (p.Tyr1383=) c.3486T= (p.Tyr1162=) c.8001T= (p.Tyr2667=) | |
5 | g.13770955A>C | CA359205311 | DNAH5 | c.9399T>G (p.Tyr3133Ter) c.9354T>G (p.Tyr3118Ter) n.111T>G c.9507T>G (p.Tyr3169Ter) c.8412T>G (p.Tyr2804Ter) c.4596T>G (p.Tyr1532Ter) c.4149T>G (p.Tyr1383Ter) c.3486T>G (p.Tyr1162Ter) c.8001T>G (p.Tyr2667Ter) | |
5 | g.13770955A>G | CA443535440 | DNAH5 | c.9399T>C (p.Tyr3133=) c.9354T>C (p.Tyr3118=) n.111T>C c.9507T>C (p.Tyr3169=) c.8412T>C (p.Tyr2804=) c.4596T>C (p.Tyr1532=) c.4149T>C (p.Tyr1383=) c.3486T>C (p.Tyr1162=) c.8001T>C (p.Tyr2667=) | dbSNP gnomAD v4 |
5 | g.13770955A>T | CA359205312 | DNAH5 | c.9399T>A (p.Tyr3133Ter) c.9354T>A (p.Tyr3118Ter) n.111T>A c.9507T>A (p.Tyr3169Ter) c.8412T>A (p.Tyr2804Ter) c.4596T>A (p.Tyr1532Ter) c.4149T>A (p.Tyr1383Ter) c.3486T>A (p.Tyr1162Ter) c.8001T>A (p.Tyr2667Ter) | ClinVar dbSNP gnomAD v4 |
5 | g.13770956T>A | CA359205315 | DNAH5 | c.9398A>T (p.Tyr3133Phe) c.9353A>T (p.Tyr3118Phe) n.110A>T c.9506A>T (p.Tyr3169Phe) c.8411A>T (p.Tyr2804Phe) c.4595A>T (p.Tyr1532Phe) c.4148A>T (p.Tyr1383Phe) c.3485A>T (p.Tyr1162Phe) c.8000A>T (p.Tyr2667Phe) | |
5 | g.13770956T>C | CA359205316 | DNAH5 | c.9398A>G (p.Tyr3133Cys) c.9353A>G (p.Tyr3118Cys) n.110A>G c.9506A>G (p.Tyr3169Cys) c.8411A>G (p.Tyr2804Cys) c.4595A>G (p.Tyr1532Cys) c.4148A>G (p.Tyr1383Cys) c.3485A>G (p.Tyr1162Cys) c.8000A>G (p.Tyr2667Cys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770956T>G | CA359205319 | DNAH5 | c.9398A>C (p.Tyr3133Ser) c.9353A>C (p.Tyr3118Ser) n.110A>C c.9506A>C (p.Tyr3169Ser) c.8411A>C (p.Tyr2804Ser) c.4595A>C (p.Tyr1532Ser) c.4148A>C (p.Tyr1383Ser) c.3485A>C (p.Tyr1162Ser) c.8000A>C (p.Tyr2667Ser) | |
5 | g.13770956T= | CA1528431253 | DNAH5 | c.9398A= (p.Tyr3133=) c.9353A= (p.Tyr3118=) n.110A= c.9506A= (p.Tyr3169=) c.8411A= (p.Tyr2804=) c.4595A= (p.Tyr1532=) c.4148A= (p.Tyr1383=) c.3485A= (p.Tyr1162=) c.8000A= (p.Tyr2667=) | |
5 | g.13770957A>C | CA359205325 | DNAH5 | c.9397T>G (p.Tyr3133Asp) c.9352T>G (p.Tyr3118Asp) n.109T>G c.9505T>G (p.Tyr3169Asp) c.8410T>G (p.Tyr2804Asp) c.4594T>G (p.Tyr1532Asp) c.4147T>G (p.Tyr1383Asp) c.3484T>G (p.Tyr1162Asp) c.7999T>G (p.Tyr2667Asp) | |
5 | g.13770957A>G | CA359205326 | DNAH5 | c.9397T>C (p.Tyr3133His) c.9352T>C (p.Tyr3118His) n.109T>C c.9505T>C (p.Tyr3169His) c.8410T>C (p.Tyr2804His) c.4594T>C (p.Tyr1532His) c.4147T>C (p.Tyr1383His) c.3484T>C (p.Tyr1162His) c.7999T>C (p.Tyr2667His) | |
5 | g.13770957A>T | CA359205327 | DNAH5 | c.9397T>A (p.Tyr3133Asn) c.9352T>A (p.Tyr3118Asn) n.109T>A c.9505T>A (p.Tyr3169Asn) c.8410T>A (p.Tyr2804Asn) c.4594T>A (p.Tyr1532Asn) c.4147T>A (p.Tyr1383Asn) c.3484T>A (p.Tyr1162Asn) c.7999T>A (p.Tyr2667Asn) | |
5 | g.13770958G>A | CA443535444 | DNAH5 | c.9396C>T (p.Ser3132=) c.9351C>T (p.Ser3117=) n.108C>T c.9504C>T (p.Ser3168=) c.8409C>T (p.Ser2803=) c.4593C>T (p.Ser1531=) c.4146C>T (p.Ser1382=) c.3483C>T (p.Ser1161=) c.7998C>T (p.Ser2666=) | |
5 | g.13770958G>C | CA443535446 | DNAH5 | c.9396C>G (p.Ser3132=) c.9351C>G (p.Ser3117=) n.108C>G c.9504C>G (p.Ser3168=) c.8409C>G (p.Ser2803=) c.4593C>G (p.Ser1531=) c.4146C>G (p.Ser1382=) c.3483C>G (p.Ser1161=) c.7998C>G (p.Ser2666=) | |
5 | g.13770958G>T | CA443535445 | DNAH5 | c.9396C>A (p.Ser3132=) c.9351C>A (p.Ser3117=) n.108C>A c.9504C>A (p.Ser3168=) c.8409C>A (p.Ser2803=) c.4593C>A (p.Ser1531=) c.4146C>A (p.Ser1382=) c.3483C>A (p.Ser1161=) c.7998C>A (p.Ser2666=) | |
5 | g.13770959G>A | CA359205330 | DNAH5 | c.9395C>T (p.Ser3132Phe) c.9350C>T (p.Ser3117Phe) n.107C>T c.9503C>T (p.Ser3168Phe) c.8408C>T (p.Ser2803Phe) c.4592C>T (p.Ser1531Phe) c.4145C>T (p.Ser1382Phe) c.3482C>T (p.Ser1161Phe) c.7997C>T (p.Ser2666Phe) | COSMIC |
5 | g.13770959G>C | CA359205331 | DNAH5 | c.9395C>G (p.Ser3132Cys) c.9350C>G (p.Ser3117Cys) n.107C>G c.9503C>G (p.Ser3168Cys) c.8408C>G (p.Ser2803Cys) c.4592C>G (p.Ser1531Cys) c.4145C>G (p.Ser1382Cys) c.3482C>G (p.Ser1161Cys) c.7997C>G (p.Ser2666Cys) | |
5 | g.13770959G>T | CA359205332 | DNAH5 | c.9395C>A (p.Ser3132Tyr) c.9350C>A (p.Ser3117Tyr) n.107C>A c.9503C>A (p.Ser3168Tyr) c.8408C>A (p.Ser2803Tyr) c.4592C>A (p.Ser1531Tyr) c.4145C>A (p.Ser1382Tyr) c.3482C>A (p.Ser1161Tyr) c.7997C>A (p.Ser2666Tyr) | |
5 | g.13770960A>C | CA359205338 | DNAH5 | c.9394T>G (p.Ser3132Ala) c.9349T>G (p.Ser3117Ala) n.106T>G c.9502T>G (p.Ser3168Ala) c.8407T>G (p.Ser2803Ala) c.4591T>G (p.Ser1531Ala) c.4144T>G (p.Ser1382Ala) c.3481T>G (p.Ser1161Ala) c.7996T>G (p.Ser2666Ala) | |
5 | g.13770960A>G | CA359205336 | DNAH5 | c.9394T>C (p.Ser3132Pro) c.9349T>C (p.Ser3117Pro) n.106T>C c.9502T>C (p.Ser3168Pro) c.8407T>C (p.Ser2803Pro) c.4591T>C (p.Ser1531Pro) c.4144T>C (p.Ser1382Pro) c.3481T>C (p.Ser1161Pro) c.7996T>C (p.Ser2666Pro) | |
5 | g.13770960A>T | CA359205334 | DNAH5 | c.9394T>A (p.Ser3132Thr) c.9349T>A (p.Ser3117Thr) n.106T>A c.9502T>A (p.Ser3168Thr) c.8407T>A (p.Ser2803Thr) c.4591T>A (p.Ser1531Thr) c.4144T>A (p.Ser1382Thr) c.3481T>A (p.Ser1161Thr) c.7996T>A (p.Ser2666Thr) | gnomAD v4 |
5 | g.13770961A>C | CA443535448 | DNAH5 | c.9393T>G (p.Thr3131=) c.9348T>G (p.Thr3116=) n.105T>G c.9501T>G (p.Thr3167=) c.8406T>G (p.Thr2802=) c.4590T>G (p.Thr1530=) c.4143T>G (p.Thr1381=) c.3480T>G (p.Thr1160=) c.7995T>G (p.Thr2665=) | ClinVar |
5 | g.13770961A>G | CA443535449 | DNAH5 | c.9393T>C (p.Thr3131=) c.9348T>C (p.Thr3116=) n.105T>C c.9501T>C (p.Thr3167=) c.8406T>C (p.Thr2802=) c.4590T>C (p.Thr1530=) c.4143T>C (p.Thr1381=) c.3480T>C (p.Thr1160=) c.7995T>C (p.Thr2665=) | |
5 | g.13770961A>T | CA443535450 | DNAH5 | c.9393T>A (p.Thr3131=) c.9348T>A (p.Thr3116=) n.105T>A c.9501T>A (p.Thr3167=) c.8406T>A (p.Thr2802=) c.4590T>A (p.Thr1530=) c.4143T>A (p.Thr1381=) c.3480T>A (p.Thr1160=) c.7995T>A (p.Thr2665=) | |
5 | g.13770962G>A | CA359205341 | DNAH5 | c.9392C>T (p.Thr3131Ile) c.9347C>T (p.Thr3116Ile) n.104C>T c.9500C>T (p.Thr3167Ile) c.8405C>T (p.Thr2802Ile) c.4589C>T (p.Thr1530Ile) c.4142C>T (p.Thr1381Ile) c.3479C>T (p.Thr1160Ile) c.7994C>T (p.Thr2665Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770962G>C | CA359205343 | DNAH5 | c.9392C>G (p.Thr3131Ser) c.9347C>G (p.Thr3116Ser) n.104C>G c.9500C>G (p.Thr3167Ser) c.8405C>G (p.Thr2802Ser) c.4589C>G (p.Thr1530Ser) c.4142C>G (p.Thr1381Ser) c.3479C>G (p.Thr1160Ser) c.7994C>G (p.Thr2665Ser) | |
5 | g.13770962G= | CA1528431254 | DNAH5 | c.9392C= (p.Thr3131=) c.9347C= (p.Thr3116=) n.104C= c.9500C= (p.Thr3167=) c.8405C= (p.Thr2802=) c.4589C= (p.Thr1530=) c.4142C= (p.Thr1381=) c.3479C= (p.Thr1160=) c.7994C= (p.Thr2665=) | |
5 | g.13770962G>T | CA359205345 | DNAH5 | c.9392C>A (p.Thr3131Asn) c.9347C>A (p.Thr3116Asn) n.104C>A c.9500C>A (p.Thr3167Asn) c.8405C>A (p.Thr2802Asn) c.4589C>A (p.Thr1530Asn) c.4142C>A (p.Thr1381Asn) c.3479C>A (p.Thr1160Asn) c.7994C>A (p.Thr2665Asn) | dbSNP |
5 | g.13770963T>A | CA3202553 | DNAH5 | c.9391A>T (p.Thr3131Ser) c.9346A>T (p.Thr3116Ser) n.103A>T c.9499A>T (p.Thr3167Ser) c.8404A>T (p.Thr2802Ser) c.4588A>T (p.Thr1530Ser) c.4141A>T (p.Thr1381Ser) c.3478A>T (p.Thr1160Ser) c.7993A>T (p.Thr2665Ser) | dbSNP ExAC gnomAD v4 |
5 | g.13770963T>C | CA359205348 | DNAH5 | c.9391A>G (p.Thr3131Ala) c.9346A>G (p.Thr3116Ala) n.103A>G c.9499A>G (p.Thr3167Ala) c.8404A>G (p.Thr2802Ala) c.4588A>G (p.Thr1530Ala) c.4141A>G (p.Thr1381Ala) c.3478A>G (p.Thr1160Ala) c.7993A>G (p.Thr2665Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770963T>G | CA359205350 | DNAH5 | c.9391A>C (p.Thr3131Pro) c.9346A>C (p.Thr3116Pro) n.103A>C c.9499A>C (p.Thr3167Pro) c.8404A>C (p.Thr2802Pro) c.4588A>C (p.Thr1530Pro) c.4141A>C (p.Thr1381Pro) c.3478A>C (p.Thr1160Pro) c.7993A>C (p.Thr2665Pro) | gnomAD v4 |
5 | g.13770963T= | CA1528431255 | DNAH5 | c.9391A= (p.Thr3131=) c.9346A= (p.Thr3116=) n.103A= c.9499A= (p.Thr3167=) c.8404A= (p.Thr2802=) c.4588A= (p.Thr1530=) c.4141A= (p.Thr1381=) c.3478A= (p.Thr1160=) c.7993A= (p.Thr2665=) | |
5 | g.13770964G>A | CA443535451 | DNAH5 | c.9390C>T (p.Leu3130=) c.9345C>T (p.Leu3115=) n.102C>T c.9498C>T (p.Leu3166=) c.8403C>T (p.Leu2801=) c.4587C>T (p.Leu1529=) c.4140C>T (p.Leu1380=) c.3477C>T (p.Leu1159=) c.7992C>T (p.Leu2664=) | |
5 | g.13770964G>C | CA443535453 | DNAH5 | c.9390C>G (p.Leu3130=) c.9345C>G (p.Leu3115=) n.102C>G c.9498C>G (p.Leu3166=) c.8403C>G (p.Leu2801=) c.4587C>G (p.Leu1529=) c.4140C>G (p.Leu1380=) c.3477C>G (p.Leu1159=) c.7992C>G (p.Leu2664=) | |
5 | g.13770964G>T | CA443535452 | DNAH5 | c.9390C>A (p.Leu3130=) c.9345C>A (p.Leu3115=) n.102C>A c.9498C>A (p.Leu3166=) c.8403C>A (p.Leu2801=) c.4587C>A (p.Leu1529=) c.4140C>A (p.Leu1380=) c.3477C>A (p.Leu1159=) c.7992C>A (p.Leu2664=) | |
5 | g.13770965A>C | CA359205352 | DNAH5 | c.9389T>G (p.Leu3130Arg) c.9344T>G (p.Leu3115Arg) n.101T>G c.9497T>G (p.Leu3166Arg) c.8402T>G (p.Leu2801Arg) c.4586T>G (p.Leu1529Arg) c.4139T>G (p.Leu1380Arg) c.3476T>G (p.Leu1159Arg) c.7991T>G (p.Leu2664Arg) | |
5 | g.13770965A>G | CA359205355 | DNAH5 | c.9389T>C (p.Leu3130Pro) c.9344T>C (p.Leu3115Pro) n.101T>C c.9497T>C (p.Leu3166Pro) c.8402T>C (p.Leu2801Pro) c.4586T>C (p.Leu1529Pro) c.4139T>C (p.Leu1380Pro) c.3476T>C (p.Leu1159Pro) c.7991T>C (p.Leu2664Pro) | |
5 | g.13770965A>T | CA359205357 | DNAH5 | c.9389T>A (p.Leu3130His) c.9344T>A (p.Leu3115His) n.101T>A c.9497T>A (p.Leu3166His) c.8402T>A (p.Leu2801His) c.4586T>A (p.Leu1529His) c.4139T>A (p.Leu1380His) c.3476T>A (p.Leu1159His) c.7991T>A (p.Leu2664His) | |
5 | g.13770966G>A | CA359205359 | DNAH5 | c.9388C>T (p.Leu3130Phe) c.9343C>T (p.Leu3115Phe) n.100C>T c.9496C>T (p.Leu3166Phe) c.8401C>T (p.Leu2801Phe) c.4585C>T (p.Leu1529Phe) c.4138C>T (p.Leu1380Phe) c.3475C>T (p.Leu1159Phe) c.7990C>T (p.Leu2664Phe) | |
5 | g.13770966G>C | CA359205361 | DNAH5 | c.9388C>G (p.Leu3130Val) c.9343C>G (p.Leu3115Val) n.100C>G c.9496C>G (p.Leu3166Val) c.8401C>G (p.Leu2801Val) c.4585C>G (p.Leu1529Val) c.4138C>G (p.Leu1380Val) c.3475C>G (p.Leu1159Val) c.7990C>G (p.Leu2664Val) | |
5 | g.13770966G>T | CA359205366 | DNAH5 | c.9388C>A (p.Leu3130Ile) c.9343C>A (p.Leu3115Ile) n.100C>A c.9496C>A (p.Leu3166Ile) c.8401C>A (p.Leu2801Ile) c.4585C>A (p.Leu1529Ile) c.4138C>A (p.Leu1380Ile) c.3475C>A (p.Leu1159Ile) c.7990C>A (p.Leu2664Ile) | |
5 | g.13770967G>A | CA443535457 | DNAH5 | c.9387C>T (p.Phe3129=) c.9342C>T (p.Phe3114=) n.99C>T c.9495C>T (p.Phe3165=) c.8400C>T (p.Phe2800=) c.4584C>T (p.Phe1528=) c.4137C>T (p.Phe1379=) c.3474C>T (p.Phe1158=) c.7989C>T (p.Phe2663=) | ClinVar |
5 | g.13770967G>C | CA359205370 | DNAH5 | c.9387C>G (p.Phe3129Leu) c.9342C>G (p.Phe3114Leu) n.99C>G c.9495C>G (p.Phe3165Leu) c.8400C>G (p.Phe2800Leu) c.4584C>G (p.Phe1528Leu) c.4137C>G (p.Phe1379Leu) c.3474C>G (p.Phe1158Leu) c.7989C>G (p.Phe2663Leu) | |
5 | g.13770967G>T | CA359205368 | DNAH5 | c.9387C>A (p.Phe3129Leu) c.9342C>A (p.Phe3114Leu) n.99C>A c.9495C>A (p.Phe3165Leu) c.8400C>A (p.Phe2800Leu) c.4584C>A (p.Phe1528Leu) c.4137C>A (p.Phe1379Leu) c.3474C>A (p.Phe1158Leu) c.7989C>A (p.Phe2663Leu) | COSMIC |
5 | g.13770968A>C | CA359205374 | DNAH5 | c.9386T>G (p.Phe3129Cys) c.9341T>G (p.Phe3114Cys) n.98T>G c.9494T>G (p.Phe3165Cys) c.8399T>G (p.Phe2800Cys) c.4583T>G (p.Phe1528Cys) c.4136T>G (p.Phe1379Cys) c.3473T>G (p.Phe1158Cys) c.7988T>G (p.Phe2663Cys) | |
5 | g.13770968A>G | CA359205375 | DNAH5 | c.9386T>C (p.Phe3129Ser) c.9341T>C (p.Phe3114Ser) n.98T>C c.9494T>C (p.Phe3165Ser) c.8399T>C (p.Phe2800Ser) c.4583T>C (p.Phe1528Ser) c.4136T>C (p.Phe1379Ser) c.3473T>C (p.Phe1158Ser) c.7988T>C (p.Phe2663Ser) | |
5 | g.13770968A>T | CA359205377 | DNAH5 | c.9386T>A (p.Phe3129Tyr) c.9341T>A (p.Phe3114Tyr) n.98T>A c.9494T>A (p.Phe3165Tyr) c.8399T>A (p.Phe2800Tyr) c.4583T>A (p.Phe1528Tyr) c.4136T>A (p.Phe1379Tyr) c.3473T>A (p.Phe1158Tyr) c.7988T>A (p.Phe2663Tyr) | |
5 | g.13770969A= | CA1528431256 | DNAH5 | c.9385T= (p.Phe3129=) c.9340T= (p.Phe3114=) n.97T= c.9493T= (p.Phe3165=) c.8398T= (p.Phe2800=) c.4582T= (p.Phe1528=) c.4135T= (p.Phe1379=) c.3472T= (p.Phe1158=) c.7987T= (p.Phe2663=) | |
5 | g.13770969A>C | CA359205378 | DNAH5 | c.9385T>G (p.Phe3129Val) c.9340T>G (p.Phe3114Val) n.97T>G c.9493T>G (p.Phe3165Val) c.8398T>G (p.Phe2800Val) c.4582T>G (p.Phe1528Val) c.4135T>G (p.Phe1379Val) c.3472T>G (p.Phe1158Val) c.7987T>G (p.Phe2663Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770969A>G | CA359205379 | DNAH5 | c.9385T>C (p.Phe3129Leu) c.9340T>C (p.Phe3114Leu) n.97T>C c.9493T>C (p.Phe3165Leu) c.8398T>C (p.Phe2800Leu) c.4582T>C (p.Phe1528Leu) c.4135T>C (p.Phe1379Leu) c.3472T>C (p.Phe1158Leu) c.7987T>C (p.Phe2663Leu) | |
5 | g.13770969A>T | CA359205381 | DNAH5 | c.9385T>A (p.Phe3129Ile) c.9340T>A (p.Phe3114Ile) n.97T>A c.9493T>A (p.Phe3165Ile) c.8398T>A (p.Phe2800Ile) c.4582T>A (p.Phe1528Ile) c.4135T>A (p.Phe1379Ile) c.3472T>A (p.Phe1158Ile) c.7987T>A (p.Phe2663Ile) | |
5 | g.13770970G>A | CA443535458 | DNAH5 | c.9384C>T (p.His3128=) c.9339C>T (p.His3113=) n.96C>T c.9492C>T (p.His3164=) c.8397C>T (p.His2799=) c.4581C>T (p.His1527=) c.4134C>T (p.His1378=) c.3471C>T (p.His1157=) c.7986C>T (p.His2662=) | |
5 | g.13770970G>C | CA359205383 | DNAH5 | c.9384C>G (p.His3128Gln) c.9339C>G (p.His3113Gln) n.96C>G c.9492C>G (p.His3164Gln) c.8397C>G (p.His2799Gln) c.4581C>G (p.His1527Gln) c.4134C>G (p.His1378Gln) c.3471C>G (p.His1157Gln) c.7986C>G (p.His2662Gln) | |
5 | g.13770970G>T | CA359205389 | DNAH5 | c.9384C>A (p.His3128Gln) c.9339C>A (p.His3113Gln) n.96C>A c.9492C>A (p.His3164Gln) c.8397C>A (p.His2799Gln) c.4581C>A (p.His1527Gln) c.4134C>A (p.His1378Gln) c.3471C>A (p.His1157Gln) c.7986C>A (p.His2662Gln) | |
5 | g.13770971T>A | CA359205391 | DNAH5 | c.9383A>T (p.His3128Leu) c.9338A>T (p.His3113Leu) n.95A>T c.9491A>T (p.His3164Leu) c.8396A>T (p.His2799Leu) c.4580A>T (p.His1527Leu) c.4133A>T (p.His1378Leu) c.3470A>T (p.His1157Leu) c.7985A>T (p.His2662Leu) | |
5 | g.13770971T>C | CA359205393 | DNAH5 | c.9383A>G (p.His3128Arg) c.9338A>G (p.His3113Arg) n.95A>G c.9491A>G (p.His3164Arg) c.8396A>G (p.His2799Arg) c.4580A>G (p.His1527Arg) c.4133A>G (p.His1378Arg) c.3470A>G (p.His1157Arg) c.7985A>G (p.His2662Arg) | |
5 | g.13770971T>G | CA359205394 | DNAH5 | c.9383A>C (p.His3128Pro) c.9338A>C (p.His3113Pro) n.95A>C c.9491A>C (p.His3164Pro) c.8396A>C (p.His2799Pro) c.4580A>C (p.His1527Pro) c.4133A>C (p.His1378Pro) c.3470A>C (p.His1157Pro) c.7985A>C (p.His2662Pro) | |
5 | g.13770972G>A | CA3202554 | DNAH5 | c.9382C>T (p.His3128Tyr) c.9337C>T (p.His3113Tyr) n.94C>T c.9490C>T (p.His3164Tyr) c.8395C>T (p.His2799Tyr) c.4579C>T (p.His1527Tyr) c.4132C>T (p.His1378Tyr) c.3469C>T (p.His1157Tyr) c.7984C>T (p.His2662Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770972G>C | CA359205397 | DNAH5 | c.9382C>G (p.His3128Asp) c.9337C>G (p.His3113Asp) n.94C>G c.9490C>G (p.His3164Asp) c.8395C>G (p.His2799Asp) c.4579C>G (p.His1527Asp) c.4132C>G (p.His1378Asp) c.3469C>G (p.His1157Asp) c.7984C>G (p.His2662Asp) | |
5 | g.13770972G= | CA1528431257 | DNAH5 | c.9382C= (p.His3128=) c.9337C= (p.His3113=) n.94C= c.9490C= (p.His3164=) c.8395C= (p.His2799=) c.4579C= (p.His1527=) c.4132C= (p.His1378=) c.3469C= (p.His1157=) c.7984C= (p.His2662=) | |
5 | g.13770972G>T | CA359205399 | DNAH5 | c.9382C>A (p.His3128Asn) c.9337C>A (p.His3113Asn) n.94C>A c.9490C>A (p.His3164Asn) c.8395C>A (p.His2799Asn) c.4579C>A (p.His1527Asn) c.4132C>A (p.His1378Asn) c.3469C>A (p.His1157Asn) c.7984C>A (p.His2662Asn) | |
5 | g.13770973T>A | CA359205402 | DNAH5 | c.9381A>T (p.Glu3127Asp) c.9336A>T (p.Glu3112Asp) n.93A>T c.9489A>T (p.Glu3163Asp) c.8394A>T (p.Glu2798Asp) c.4578A>T (p.Glu1526Asp) c.4131A>T (p.Glu1377Asp) c.3468A>T (p.Glu1156Asp) c.7983A>T (p.Glu2661Asp) | |
5 | g.13770973T>C | CA443535460 | DNAH5 | c.9381A>G (p.Glu3127=) c.9336A>G (p.Glu3112=) n.93A>G c.9489A>G (p.Glu3163=) c.8394A>G (p.Glu2798=) c.4578A>G (p.Glu1526=) c.4131A>G (p.Glu1377=) c.3468A>G (p.Glu1156=) c.7983A>G (p.Glu2661=) | |
5 | g.13770973T>G | CA359205403 | DNAH5 | c.9381A>C (p.Glu3127Asp) c.9336A>C (p.Glu3112Asp) n.93A>C c.9489A>C (p.Glu3163Asp) c.8394A>C (p.Glu2798Asp) c.4578A>C (p.Glu1526Asp) c.4131A>C (p.Glu1377Asp) c.3468A>C (p.Glu1156Asp) c.7983A>C (p.Glu2661Asp) | |
5 | g.13770974T>A | CA359205405 | DNAH5 | c.9380A>T (p.Glu3127Val) c.9335A>T (p.Glu3112Val) n.92A>T c.9488A>T (p.Glu3163Val) c.8393A>T (p.Glu2798Val) c.4577A>T (p.Glu1526Val) c.4130A>T (p.Glu1377Val) c.3467A>T (p.Glu1156Val) c.7982A>T (p.Glu2661Val) | |
5 | g.13770974T>C | CA359205407 | DNAH5 | c.9380A>G (p.Glu3127Gly) c.9335A>G (p.Glu3112Gly) n.92A>G c.9488A>G (p.Glu3163Gly) c.8393A>G (p.Glu2798Gly) c.4577A>G (p.Glu1526Gly) c.4130A>G (p.Glu1377Gly) c.3467A>G (p.Glu1156Gly) c.7982A>G (p.Glu2661Gly) | |
5 | g.13770974T>G | CA359205408 | DNAH5 | c.9380A>C (p.Glu3127Ala) c.9335A>C (p.Glu3112Ala) n.92A>C c.9488A>C (p.Glu3163Ala) c.8393A>C (p.Glu2798Ala) c.4577A>C (p.Glu1526Ala) c.4130A>C (p.Glu1377Ala) c.3467A>C (p.Glu1156Ala) c.7982A>C (p.Glu2661Ala) | |
5 | g.13770975C>A | CA113933156 | DNAH5 | c.9379G>T (p.Glu3127Ter) c.9334G>T (p.Glu3112Ter) n.91G>T c.9487G>T (p.Glu3163Ter) c.8392G>T (p.Glu2798Ter) c.4576G>T (p.Glu1526Ter) c.4129G>T (p.Glu1377Ter) c.3466G>T (p.Glu1156Ter) c.7981G>T (p.Glu2661Ter) | ClinVar dbSNP gnomAD v4 |
5 | g.13770975C= | CA1528431258 | DNAH5 | c.9379G= (p.Glu3127=) c.9334G= (p.Glu3112=) n.91G= c.9487G= (p.Glu3163=) c.8392G= (p.Glu2798=) c.4576G= (p.Glu1526=) c.4129G= (p.Glu1377=) c.3466G= (p.Glu1156=) c.7981G= (p.Glu2661=) | |
5 | g.13770975C>G | CA359205411 | DNAH5 | c.9379G>C (p.Glu3127Gln) c.9334G>C (p.Glu3112Gln) n.91G>C c.9487G>C (p.Glu3163Gln) c.8392G>C (p.Glu2798Gln) c.4576G>C (p.Glu1526Gln) c.4129G>C (p.Glu1377Gln) c.3466G>C (p.Glu1156Gln) c.7981G>C (p.Glu2661Gln) | |
5 | g.13770975C>T | CA359205412 | DNAH5 | c.9379G>A (p.Glu3127Lys) c.9334G>A (p.Glu3112Lys) n.91G>A c.9487G>A (p.Glu3163Lys) c.8392G>A (p.Glu2798Lys) c.4576G>A (p.Glu1526Lys) c.4129G>A (p.Glu1377Lys) c.3466G>A (p.Glu1156Lys) c.7981G>A (p.Glu2661Lys) | |
5 | g.13770976A>C | CA443535463 | DNAH5 | c.9378T>G (p.Ser3126=) c.9333T>G (p.Ser3111=) n.90T>G c.9486T>G (p.Ser3162=) c.8391T>G (p.Ser2797=) c.4575T>G (p.Ser1525=) c.4128T>G (p.Ser1376=) c.3465T>G (p.Ser1155=) c.7980T>G (p.Ser2660=) | |
5 | g.13770976A>G | CA443535464 | DNAH5 | c.9378T>C (p.Ser3126=) c.9333T>C (p.Ser3111=) n.90T>C c.9486T>C (p.Ser3162=) c.8391T>C (p.Ser2797=) c.4575T>C (p.Ser1525=) c.4128T>C (p.Ser1376=) c.3465T>C (p.Ser1155=) c.7980T>C (p.Ser2660=) | |
5 | g.13770976A>T | CA443535466 | DNAH5 | c.9378T>A (p.Ser3126=) c.9333T>A (p.Ser3111=) n.90T>A c.9486T>A (p.Ser3162=) c.8391T>A (p.Ser2797=) c.4575T>A (p.Ser1525=) c.4128T>A (p.Ser1376=) c.3465T>A (p.Ser1155=) c.7980T>A (p.Ser2660=) | |
5 | g.13770977G>A | CA359205413 | DNAH5 | c.9377C>T (p.Ser3126Phe) c.9332C>T (p.Ser3111Phe) n.89C>T c.9485C>T (p.Ser3162Phe) c.8390C>T (p.Ser2797Phe) c.4574C>T (p.Ser1525Phe) c.4127C>T (p.Ser1376Phe) c.3464C>T (p.Ser1155Phe) c.7979C>T (p.Ser2660Phe) | |
5 | g.13770977G>C | CA359205414 | DNAH5 | c.9377C>G (p.Ser3126Cys) c.9332C>G (p.Ser3111Cys) n.89C>G c.9485C>G (p.Ser3162Cys) c.8390C>G (p.Ser2797Cys) c.4574C>G (p.Ser1525Cys) c.4127C>G (p.Ser1376Cys) c.3464C>G (p.Ser1155Cys) c.7979C>G (p.Ser2660Cys) | |
5 | g.13770977G>T | CA359205415 | DNAH5 | c.9377C>A (p.Ser3126Tyr) c.9332C>A (p.Ser3111Tyr) n.89C>A c.9485C>A (p.Ser3162Tyr) c.8390C>A (p.Ser2797Tyr) c.4574C>A (p.Ser1525Tyr) c.4127C>A (p.Ser1376Tyr) c.3464C>A (p.Ser1155Tyr) c.7979C>A (p.Ser2660Tyr) | |
5 | g.13770978A= | CA1528431259 | DNAH5 | c.9376T= (p.Ser3126=) c.9331T= (p.Ser3111=) n.88T= c.9484T= (p.Ser3162=) c.8389T= (p.Ser2797=) c.4573T= (p.Ser1525=) c.4126T= (p.Ser1376=) c.3463T= (p.Ser1155=) c.7978T= (p.Ser2660=) | |
5 | g.13770978A>C | CA359205416 | DNAH5 | c.9376T>G (p.Ser3126Ala) c.9331T>G (p.Ser3111Ala) n.88T>G c.9484T>G (p.Ser3162Ala) c.8389T>G (p.Ser2797Ala) c.4573T>G (p.Ser1525Ala) c.4126T>G (p.Ser1376Ala) c.3463T>G (p.Ser1155Ala) c.7978T>G (p.Ser2660Ala) | |
5 | g.13770978A>G | CA359205417 | DNAH5 | c.9376T>C (p.Ser3126Pro) c.9331T>C (p.Ser3111Pro) n.88T>C c.9484T>C (p.Ser3162Pro) c.8389T>C (p.Ser2797Pro) c.4573T>C (p.Ser1525Pro) c.4126T>C (p.Ser1376Pro) c.3463T>C (p.Ser1155Pro) c.7978T>C (p.Ser2660Pro) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770978A>T | CA359205419 | DNAH5 | c.9376T>A (p.Ser3126Thr) c.9331T>A (p.Ser3111Thr) n.88T>A c.9484T>A (p.Ser3162Thr) c.8389T>A (p.Ser2797Thr) c.4573T>A (p.Ser1525Thr) c.4126T>A (p.Ser1376Thr) c.3463T>A (p.Ser1155Thr) c.7978T>A (p.Ser2660Thr) | |
5 | g.13770979C>A | CA443535468 | DNAH5 | c.9375G>T (p.Val3125=) c.9330G>T (p.Val3110=) n.87G>T c.9483G>T (p.Val3161=) c.8388G>T (p.Val2796=) c.4572G>T (p.Val1524=) c.4125G>T (p.Val1375=) c.3462G>T (p.Val1154=) c.7977G>T (p.Val2659=) | gnomAD v4 |
5 | g.13770979C>G | CA443535467 | DNAH5 | c.9375G>C (p.Val3125=) c.9330G>C (p.Val3110=) n.87G>C c.9483G>C (p.Val3161=) c.8388G>C (p.Val2796=) c.4572G>C (p.Val1524=) c.4125G>C (p.Val1375=) c.3462G>C (p.Val1154=) c.7977G>C (p.Val2659=) | |
5 | g.13770979C>T | CA443535469 | DNAH5 | c.9375G>A (p.Val3125=) c.9330G>A (p.Val3110=) n.87G>A c.9483G>A (p.Val3161=) c.8388G>A (p.Val2796=) c.4572G>A (p.Val1524=) c.4125G>A (p.Val1375=) c.3462G>A (p.Val1154=) c.7977G>A (p.Val2659=) | gnomAD v4 |
5 | g.13770980A>C | CA359205424 | DNAH5 | c.9374T>G (p.Val3125Gly) c.9329T>G (p.Val3110Gly) n.86T>G c.9482T>G (p.Val3161Gly) c.8387T>G (p.Val2796Gly) c.4571T>G (p.Val1524Gly) c.4124T>G (p.Val1375Gly) c.3461T>G (p.Val1154Gly) c.7976T>G (p.Val2659Gly) | |
5 | g.13770980A>G | CA359205423 | DNAH5 | c.9374T>C (p.Val3125Ala) c.9329T>C (p.Val3110Ala) n.86T>C c.9482T>C (p.Val3161Ala) c.8387T>C (p.Val2796Ala) c.4571T>C (p.Val1524Ala) c.4124T>C (p.Val1375Ala) c.3461T>C (p.Val1154Ala) c.7976T>C (p.Val2659Ala) | |
5 | g.13770980A>T | CA359205421 | DNAH5 | c.9374T>A (p.Val3125Glu) c.9329T>A (p.Val3110Glu) n.86T>A c.9482T>A (p.Val3161Glu) c.8387T>A (p.Val2796Glu) c.4571T>A (p.Val1524Glu) c.4124T>A (p.Val1375Glu) c.3461T>A (p.Val1154Glu) c.7976T>A (p.Val2659Glu) | |
5 | g.13770981C>A | CA359205425 | DNAH5 | c.9374-1G>T (n.9374-1G>T) c.9329-1G>T (n.9329-1G>T) n.86-1G>T c.9482-1G>T (n.9482-1G>T) c.8387-1G>T (n.8387-1G>T) c.4571-1G>T (n.4571-1G>T) c.4124-1G>T (n.4124-1G>T) c.3461-1G>T (n.3461-1G>T) c.7976-1G>T (n.7976-1G>T) | |
5 | g.13770981C>G | CA359205428 | DNAH5 | c.9374-1G>C (n.9374-1G>C) c.9329-1G>C (n.9329-1G>C) n.86-1G>C c.9482-1G>C (n.9482-1G>C) c.8387-1G>C (n.8387-1G>C) c.4571-1G>C (n.4571-1G>C) c.4124-1G>C (n.4124-1G>C) c.3461-1G>C (n.3461-1G>C) c.7976-1G>C (n.7976-1G>C) | |
5 | g.13770981C>T | CA359205427 | DNAH5 | c.9374-1G>A (n.9374-1G>A) c.9329-1G>A (n.9329-1G>A) n.86-1G>A c.9482-1G>A (n.9482-1G>A) c.8387-1G>A (n.8387-1G>A) c.4571-1G>A (n.4571-1G>A) c.4124-1G>A (n.4124-1G>A) c.3461-1G>A (n.3461-1G>A) c.7976-1G>A (n.7976-1G>A) | |
5 | g.13770982T>A | CA359205429 | DNAH5 | c.9374-2A>T (n.9374-2A>T) c.9329-2A>T (n.9329-2A>T) n.86-2A>T c.9482-2A>T (n.9482-2A>T) c.8387-2A>T (n.8387-2A>T) c.4571-2A>T (n.4571-2A>T) c.4124-2A>T (n.4124-2A>T) c.3461-2A>T (n.3461-2A>T) c.7976-2A>T (n.7976-2A>T) | ClinVar dbSNP gnomAD v4 |
5 | g.13770982T>C | CA359205431 | DNAH5 | c.9374-2A>G (n.9374-2A>G) c.9329-2A>G (n.9329-2A>G) n.86-2A>G c.9482-2A>G (n.9482-2A>G) c.8387-2A>G (n.8387-2A>G) c.4571-2A>G (n.4571-2A>G) c.4124-2A>G (n.4124-2A>G) c.3461-2A>G (n.3461-2A>G) c.7976-2A>G (n.7976-2A>G) | gnomAD v4 |
5 | g.13770982T>G | CA359205430 | DNAH5 | c.9374-2A>C (n.9374-2A>C) c.9329-2A>C (n.9329-2A>C) n.86-2A>C c.9482-2A>C (n.9482-2A>C) c.8387-2A>C (n.8387-2A>C) c.4571-2A>C (n.4571-2A>C) c.4124-2A>C (n.4124-2A>C) c.3461-2A>C (n.3461-2A>C) c.7976-2A>C (n.7976-2A>C) | |
5 | g.13770982T= | CA1528431260 | DNAH5 | c.9374-2A= (n.9374-2A=) c.9329-2A= (n.9329-2A=) n.86-2A= c.9482-2A= (n.9482-2A=) c.8387-2A= (n.8387-2A=) c.4571-2A= (n.4571-2A=) c.4124-2A= (n.4124-2A=) c.3461-2A= (n.3461-2A=) c.7976-2A= (n.7976-2A=) | |
5 | g.13770982_13770983insGTCATCTTTATTCTCTCTAGTGTCTG | CA2673268305 | DNAH5 | c.9374-3_9374-2insCAGACACTAGAGAGAATAAAGATGAC (n.9374-3_9374-2insCAGACACTAGAGAGAATAAAGATGAC) c.9329-3_9329-2insCAGACACTAGAGAGAATAAAGATGAC (n.9329-3_9329-2insCAGACACTAGAGAGAATAAAGATGAC) n.86-3_86-2insCAGACACTAGAGAGAATAAAGATGAC c.9482-3_9482-2insCAGACACTAGAGAGAATAAAGATGAC (n.9482-3_9482-2insCAGACACTAGAGAGAATAAAGATGAC) c.8387-3_8387-2insCAGACACTAGAGAGAATAAAGATGAC (n.8387-3_8387-2insCAGACACTAGAGAGAATAAAGATGAC) c.4571-3_4571-2insCAGACACTAGAGAGAATAAAGATGAC (n.4571-3_4571-2insCAGACACTAGAGAGAATAAAGATGAC) c.4124-3_4124-2insCAGACACTAGAGAGAATAAAGATGAC (n.4124-3_4124-2insCAGACACTAGAGAGAATAAAGATGAC) c.3461-3_3461-2insCAGACACTAGAGAGAATAAAGATGAC (n.3461-3_3461-2insCAGACACTAGAGAGAATAAAGATGAC) c.7976-3_7976-2insCAGACACTAGAGAGAATAAAGATGAC (n.7976-3_7976-2insCAGACACTAGAGAGAATAAAGATGAC) | gnomAD v4 |
5 | g.13770984G>C | CA2578270102 | DNAH5 | c.9374-4C>G (n.9374-4C>G) c.9329-4C>G (n.9329-4C>G) n.86-4C>G c.9482-4C>G (n.9482-4C>G) c.8387-4C>G (n.8387-4C>G) c.4571-4C>G (n.4571-4C>G) c.4124-4C>G (n.4124-4C>G) c.3461-4C>G (n.3461-4C>G) c.7976-4C>G (n.7976-4C>G) | |
5 | g.13770984G>T | CA2673268306 | DNAH5 | c.9374-4C>A (n.9374-4C>A) c.9329-4C>A (n.9329-4C>A) n.86-4C>A c.9482-4C>A (n.9482-4C>A) c.8387-4C>A (n.8387-4C>A) c.4571-4C>A (n.4571-4C>A) c.4124-4C>A (n.4124-4C>A) c.3461-4C>A (n.3461-4C>A) c.7976-4C>A (n.7976-4C>A) | gnomAD v4 |
5 | g.13770985A= | CA1528431261 | DNAH5 | c.9374-5T= (n.9374-5T=) c.9329-5T= (n.9329-5T=) n.86-5T= c.9482-5T= (n.9482-5T=) c.8387-5T= (n.8387-5T=) c.4571-5T= (n.4571-5T=) c.4124-5T= (n.4124-5T=) c.3461-5T= (n.3461-5T=) c.7976-5T= (n.7976-5T=) | |
5 | g.13770985A>G | CA113933175 | DNAH5 | c.9374-5T>C (n.9374-5T>C) c.9329-5T>C (n.9329-5T>C) n.86-5T>C c.9482-5T>C (n.9482-5T>C) c.8387-5T>C (n.8387-5T>C) c.4571-5T>C (n.4571-5T>C) c.4124-5T>C (n.4124-5T>C) c.3461-5T>C (n.3461-5T>C) c.7976-5T>C (n.7976-5T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770986G>A | CA3202555 | DNAH5 | c.9374-6C>T (n.9374-6C>T) c.9329-6C>T (n.9329-6C>T) n.86-6C>T c.9482-6C>T (n.9482-6C>T) c.8387-6C>T (n.8387-6C>T) c.4571-6C>T (n.4571-6C>T) c.4124-6C>T (n.4124-6C>T) c.3461-6C>T (n.3461-6C>T) c.7976-6C>T (n.7976-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770986G>C | CA2578270103 | DNAH5 | c.9374-6C>G (n.9374-6C>G) c.9329-6C>G (n.9329-6C>G) n.86-6C>G c.9482-6C>G (n.9482-6C>G) c.8387-6C>G (n.8387-6C>G) c.4571-6C>G (n.4571-6C>G) c.4124-6C>G (n.4124-6C>G) c.3461-6C>G (n.3461-6C>G) c.7976-6C>G (n.7976-6C>G) | |
5 | g.13770986G= | CA1528431262 | DNAH5 | c.9374-6C= (n.9374-6C=) c.9329-6C= (n.9329-6C=) n.86-6C= c.9482-6C= (n.9482-6C=) c.8387-6C= (n.8387-6C=) c.4571-6C= (n.4571-6C=) c.4124-6C= (n.4124-6C=) c.3461-6C= (n.3461-6C=) c.7976-6C= (n.7976-6C=) | |
5 | g.13770988G>A | CA2580072366 | DNAH5 | c.9374-8C>T (n.9374-8C>T) c.9329-8C>T (n.9329-8C>T) n.86-8C>T c.9482-8C>T (n.9482-8C>T) c.8387-8C>T (n.8387-8C>T) c.4571-8C>T (n.4571-8C>T) c.4124-8C>T (n.4124-8C>T) c.3461-8C>T (n.3461-8C>T) c.7976-8C>T (n.7976-8C>T) | ClinVar |
5 | g.13770988G>C | CA3202556 | DNAH5 | c.9374-8C>G (n.9374-8C>G) c.9329-8C>G (n.9329-8C>G) n.86-8C>G c.9482-8C>G (n.9482-8C>G) c.8387-8C>G (n.8387-8C>G) c.4571-8C>G (n.4571-8C>G) c.4124-8C>G (n.4124-8C>G) c.3461-8C>G (n.3461-8C>G) c.7976-8C>G (n.7976-8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770988G= | CA1528431263 | DNAH5 | c.9374-8C= (n.9374-8C=) c.9329-8C= (n.9329-8C=) n.86-8C= c.9482-8C= (n.9482-8C=) c.8387-8C= (n.8387-8C=) c.4571-8C= (n.4571-8C=) c.4124-8C= (n.4124-8C=) c.3461-8C= (n.3461-8C=) c.7976-8C= (n.7976-8C=) | |
5 | g.13770988G>T | CA2673268307 | DNAH5 | c.9374-8C>A (n.9374-8C>A) c.9329-8C>A (n.9329-8C>A) n.86-8C>A c.9482-8C>A (n.9482-8C>A) c.8387-8C>A (n.8387-8C>A) c.4571-8C>A (n.4571-8C>A) c.4124-8C>A (n.4124-8C>A) c.3461-8C>A (n.3461-8C>A) c.7976-8C>A (n.7976-8C>A) | gnomAD v4 |
5 | g.13770989A= | CA1528431264 | DNAH5 | c.9374-9T= (n.9374-9T=) c.9329-9T= (n.9329-9T=) n.86-9T= c.9482-9T= (n.9482-9T=) c.8387-9T= (n.8387-9T=) c.4571-9T= (n.4571-9T=) c.4124-9T= (n.4124-9T=) c.3461-9T= (n.3461-9T=) c.7976-9T= (n.7976-9T=) | |
5 | g.13770989A>T | CA3202557 | DNAH5 | c.9374-9T>A (n.9374-9T>A) c.9329-9T>A (n.9329-9T>A) n.86-9T>A c.9482-9T>A (n.9482-9T>A) c.8387-9T>A (n.8387-9T>A) c.4571-9T>A (n.4571-9T>A) c.4124-9T>A (n.4124-9T>A) c.3461-9T>A (n.3461-9T>A) c.7976-9T>A (n.7976-9T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770991T>C | CA2673268308 | DNAH5 | c.9374-11A>G (n.9374-11A>G) c.9329-11A>G (n.9329-11A>G) n.86-11A>G c.9482-11A>G (n.9482-11A>G) c.8387-11A>G (n.8387-11A>G) c.4571-11A>G (n.4571-11A>G) c.4124-11A>G (n.4124-11A>G) c.3461-11A>G (n.3461-11A>G) c.7976-11A>G (n.7976-11A>G) | gnomAD v4 |
5 | g.13770991T>G | CA3202558 | DNAH5 | c.9374-11A>C (n.9374-11A>C) c.9329-11A>C (n.9329-11A>C) n.86-11A>C c.9482-11A>C (n.9482-11A>C) c.8387-11A>C (n.8387-11A>C) c.4571-11A>C (n.4571-11A>C) c.4124-11A>C (n.4124-11A>C) c.3461-11A>C (n.3461-11A>C) c.7976-11A>C (n.7976-11A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770991T= | CA1528431265 | DNAH5 | c.9374-11A= (n.9374-11A=) c.9329-11A= (n.9329-11A=) n.86-11A= c.9482-11A= (n.9482-11A=) c.8387-11A= (n.8387-11A=) c.4571-11A= (n.4571-11A=) c.4124-11A= (n.4124-11A=) c.3461-11A= (n.3461-11A=) c.7976-11A= (n.7976-11A=) | |
5 | g.13770992A= | CA1528431266 | DNAH5 | c.9374-12T= (n.9374-12T=) c.9329-12T= (n.9329-12T=) n.86-12T= c.9482-12T= (n.9482-12T=) c.8387-12T= (n.8387-12T=) c.4571-12T= (n.4571-12T=) c.4124-12T= (n.4124-12T=) c.3461-12T= (n.3461-12T=) c.7976-12T= (n.7976-12T=) | |
5 | g.13770992A>G | CA557876483 | DNAH5 | c.9374-12T>C (n.9374-12T>C) c.9329-12T>C (n.9329-12T>C) n.86-12T>C c.9482-12T>C (n.9482-12T>C) c.8387-12T>C (n.8387-12T>C) c.4571-12T>C (n.4571-12T>C) c.4124-12T>C (n.4124-12T>C) c.3461-12T>C (n.3461-12T>C) c.7976-12T>C (n.7976-12T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770993A>G | CA2673268309 | DNAH5 | c.9374-13T>C (n.9374-13T>C) c.9329-13T>C (n.9329-13T>C) n.86-13T>C c.9482-13T>C (n.9482-13T>C) c.8387-13T>C (n.8387-13T>C) c.4571-13T>C (n.4571-13T>C) c.4124-13T>C (n.4124-13T>C) c.3461-13T>C (n.3461-13T>C) c.7976-13T>C (n.7976-13T>C) | gnomAD v4 |
5 | g.13770995G>C | CA3202559 | DNAH5 | c.9374-15C>G (n.9374-15C>G) c.9329-15C>G (n.9329-15C>G) n.86-15C>G c.9482-15C>G (n.9482-15C>G) c.8387-15C>G (n.8387-15C>G) c.4571-15C>G (n.4571-15C>G) c.4124-15C>G (n.4124-15C>G) c.3461-15C>G (n.3461-15C>G) c.7976-15C>G (n.7976-15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770995G= | CA1528431267 | DNAH5 | c.9374-15C= (n.9374-15C=) c.9329-15C= (n.9329-15C=) n.86-15C= c.9482-15C= (n.9482-15C=) c.8387-15C= (n.8387-15C=) c.4571-15C= (n.4571-15C=) c.4124-15C= (n.4124-15C=) c.3461-15C= (n.3461-15C=) c.7976-15C= (n.7976-15C=) | |
5 | g.13770995G>T | CA2673268310 | DNAH5 | c.9374-15C>A (n.9374-15C>A) c.9329-15C>A (n.9329-15C>A) n.86-15C>A c.9482-15C>A (n.9482-15C>A) c.8387-15C>A (n.8387-15C>A) c.4571-15C>A (n.4571-15C>A) c.4124-15C>A (n.4124-15C>A) c.3461-15C>A (n.3461-15C>A) c.7976-15C>A (n.7976-15C>A) | gnomAD v4 |