Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13900398A= | CA1528485045 | DNAH5 | c.2067T= (p.His689=) c.2022T= (p.His674=) n.2274T= c.2175T= (p.His725=) c.1080T= (p.His360=) c.669T= (p.His223=) n.2192T= | |
5 | g.13900398A>C | CA359203893 | DNAH5 | c.2067T>G (p.His689Gln) c.2022T>G (p.His674Gln) n.2274T>G c.2175T>G (p.His725Gln) c.1080T>G (p.His360Gln) c.669T>G (p.His223Gln) n.2192T>G | gnomAD v4 |
5 | g.13900398A>G | CA3204665 | DNAH5 | c.2067T>C (p.His689=) c.2022T>C (p.His674=) n.2274T>C c.2175T>C (p.His725=) c.1080T>C (p.His360=) c.669T>C (p.His223=) n.2192T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13900398A>T | CA359203894 | DNAH5 | c.2067T>A (p.His689Gln) c.2022T>A (p.His674Gln) n.2274T>A c.2175T>A (p.His725Gln) c.1080T>A (p.His360Gln) c.669T>A (p.His223Gln) n.2192T>A | |
5 | g.13900399T>A | CA359203895 | DNAH5 | c.2066A>T (p.His689Leu) c.2021A>T (p.His674Leu) n.2273A>T c.2174A>T (p.His725Leu) c.1079A>T (p.His360Leu) c.668A>T (p.His223Leu) n.2191A>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13900399T>C | CA3204666 | DNAH5 | c.2066A>G (p.His689Arg) c.2021A>G (p.His674Arg) n.2273A>G c.2174A>G (p.His725Arg) c.1079A>G (p.His360Arg) c.668A>G (p.His223Arg) n.2191A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13900399T>G | CA359203897 | DNAH5 | c.2066A>C (p.His689Pro) c.2021A>C (p.His674Pro) n.2273A>C c.2174A>C (p.His725Pro) c.1079A>C (p.His360Pro) c.668A>C (p.His223Pro) n.2191A>C | |
5 | g.13900399T= | CA1528485053 | DNAH5 | c.2066A= (p.His689=) c.2021A= (p.His674=) n.2273A= c.2174A= (p.His725=) c.1079A= (p.His360=) c.668A= (p.His223=) n.2191A= | |
5 | g.13900400G>A | CA359203900 | DNAH5 | c.2065C>T (p.His689Tyr) c.2020C>T (p.His674Tyr) n.2272C>T c.2173C>T (p.His725Tyr) c.1078C>T (p.His360Tyr) c.667C>T (p.His223Tyr) n.2190C>T | dbSNP COSMIC |
5 | g.13900400G>C | CA359203901 | DNAH5 | c.2065C>G (p.His689Asp) c.2020C>G (p.His674Asp) n.2272C>G c.2173C>G (p.His725Asp) c.1078C>G (p.His360Asp) c.667C>G (p.His223Asp) n.2190C>G | |
5 | g.13900400G= | CA1528485067 | DNAH5 | c.2065C= (p.His689=) c.2020C= (p.His674=) n.2272C= c.2173C= (p.His725=) c.1078C= (p.His360=) c.667C= (p.His223=) n.2190C= | |
5 | g.13900400G>T | CA359203903 | DNAH5 | c.2065C>A (p.His689Asn) c.2020C>A (p.His674Asn) n.2272C>A c.2173C>A (p.His725Asn) c.1078C>A (p.His360Asn) c.667C>A (p.His223Asn) n.2190C>A | |
5 | g.13900400_13900430delinsGAATTTCTTCAATCTGTGGGAAGAAACCAAC | CA1528485069 | DNAH5 | c.2053-18_2065delinsGTTGGTTTCTTCCCACAGATTGAAGAAATTC c.2008-18_2020delinsGTTGGTTTCTTCCCACAGATTGAAGAAATTC n.2260-18_2272delinsGTTGGTTTCTTCCCACAGATTGAAGAAATTC c.2161-18_2173delinsGTTGGTTTCTTCCCACAGATTGAAGAAATTC c.1066-18_1078delinsGTTGGTTTCTTCCCACAGATTGAAGAAATTC c.655-18_667delinsGTTGGTTTCTTCCCACAGATTGAAGAAATTC n.2178-18_2190delinsGTTGGTTTCTTCCCACAGATTGAAGAAATTC | |
5 | g.13900401A>C | CA359203905 | DNAH5 | c.2064T>G (p.Ile688Met) c.2019T>G (p.Ile673Met) n.2271T>G c.2172T>G (p.Ile724Met) c.1077T>G (p.Ile359Met) c.666T>G (p.Ile222Met) n.2189T>G | |
5 | g.13900401A>G | CA443275525 | DNAH5 | c.2064T>C (p.Ile688=) c.2019T>C (p.Ile673=) n.2271T>C c.2172T>C (p.Ile724=) c.1077T>C (p.Ile359=) c.666T>C (p.Ile222=) n.2189T>C | |
5 | g.13900401A>T | CA443275526 | DNAH5 | c.2064T>A (p.Ile688=) c.2019T>A (p.Ile673=) n.2271T>A c.2172T>A (p.Ile724=) c.1077T>A (p.Ile359=) c.666T>A (p.Ile222=) n.2189T>A | |
5 | g.13900402_13900431del | CA1139658749 | DNAH5 | c.2053-18_2064del c.2008-18_2019del n.2260-18_2271del c.2161-18_2172del c.1066-18_1077del c.655-18_666del n.2178-18_2189del | ClinVar dbSNP |
5 | g.13900402A>C | CA359203906 | DNAH5 | c.2063T>G (p.Ile688Ser) c.2018T>G (p.Ile673Ser) n.2270T>G c.2171T>G (p.Ile724Ser) c.1076T>G (p.Ile359Ser) c.665T>G (p.Ile222Ser) n.2188T>G | |
5 | g.13900402A>G | CA359203907 | DNAH5 | c.2063T>C (p.Ile688Thr) c.2018T>C (p.Ile673Thr) n.2270T>C c.2171T>C (p.Ile724Thr) c.1076T>C (p.Ile359Thr) c.665T>C (p.Ile222Thr) n.2188T>C | |
5 | g.13900402A>T | CA359203909 | DNAH5 | c.2063T>A (p.Ile688Asn) c.2018T>A (p.Ile673Asn) n.2270T>A c.2171T>A (p.Ile724Asn) c.1076T>A (p.Ile359Asn) c.665T>A (p.Ile222Asn) n.2188T>A | |
5 | g.13900403T>A | CA359203911 | DNAH5 | c.2062A>T (p.Ile688Phe) c.2017A>T (p.Ile673Phe) n.2269A>T c.2170A>T (p.Ile724Phe) c.1075A>T (p.Ile359Phe) c.664A>T (p.Ile222Phe) n.2187A>T | |
5 | g.13900403T>C | CA359203913 | DNAH5 | c.2062A>G (p.Ile688Val) c.2017A>G (p.Ile673Val) n.2269A>G c.2170A>G (p.Ile724Val) c.1075A>G (p.Ile359Val) c.664A>G (p.Ile222Val) n.2187A>G | |
5 | g.13900403T>G | CA359203915 | DNAH5 | c.2062A>C (p.Ile688Leu) c.2017A>C (p.Ile673Leu) n.2269A>C c.2170A>C (p.Ile724Leu) c.1075A>C (p.Ile359Leu) c.664A>C (p.Ile222Leu) n.2187A>C | |
5 | g.13900404T>A | CA359203917 | DNAH5 | c.2061A>T (p.Glu687Asp) c.2016A>T (p.Glu672Asp) n.2268A>T c.2169A>T (p.Glu723Asp) c.1074A>T (p.Glu358Asp) c.663A>T (p.Glu221Asp) n.2186A>T | |
5 | g.13900404T>C | CA443275527 | DNAH5 | c.2061A>G (p.Glu687=) c.2016A>G (p.Glu672=) n.2268A>G c.2169A>G (p.Glu723=) c.1074A>G (p.Glu358=) c.663A>G (p.Glu221=) n.2186A>G | |
5 | g.13900404T>G | CA359203918 | DNAH5 | c.2061A>C (p.Glu687Asp) c.2016A>C (p.Glu672Asp) n.2268A>C c.2169A>C (p.Glu723Asp) c.1074A>C (p.Glu358Asp) c.663A>C (p.Glu221Asp) n.2186A>C | |
5 | g.13900405T>A | CA359203920 | DNAH5 | c.2060A>T (p.Glu687Val) c.2015A>T (p.Glu672Val) n.2267A>T c.2168A>T (p.Glu723Val) c.1073A>T (p.Glu358Val) c.662A>T (p.Glu221Val) n.2185A>T | |
5 | g.13900405T>C | CA359203923 | DNAH5 | c.2060A>G (p.Glu687Gly) c.2015A>G (p.Glu672Gly) n.2267A>G c.2168A>G (p.Glu723Gly) c.1073A>G (p.Glu358Gly) c.662A>G (p.Glu221Gly) n.2185A>G | |
5 | g.13900405T>G | CA359203921 | DNAH5 | c.2060A>C (p.Glu687Ala) c.2015A>C (p.Glu672Ala) n.2267A>C c.2168A>C (p.Glu723Ala) c.1073A>C (p.Glu358Ala) c.662A>C (p.Glu221Ala) n.2185A>C | |
5 | g.13900406C>A | CA359203924 | DNAH5 | c.2059G>T (p.Glu687Ter) c.2014G>T (p.Glu672Ter) n.2266G>T c.2167G>T (p.Glu723Ter) c.1072G>T (p.Glu358Ter) c.661G>T (p.Glu221Ter) n.2184G>T | COSMIC |
5 | g.13900406C>G | CA359203926 | DNAH5 | c.2059G>C (p.Glu687Gln) c.2014G>C (p.Glu672Gln) n.2266G>C c.2167G>C (p.Glu723Gln) c.1072G>C (p.Glu358Gln) c.661G>C (p.Glu221Gln) n.2184G>C | |
5 | g.13900406C>T | CA359203927 | DNAH5 | c.2059G>A (p.Glu687Lys) c.2014G>A (p.Glu672Lys) n.2266G>A c.2167G>A (p.Glu723Lys) c.1072G>A (p.Glu358Lys) c.661G>A (p.Glu221Lys) n.2184G>A | |
5 | g.13900407T>A | CA359203929 | DNAH5 | c.2058A>T (p.Glu686Asp) c.2013A>T (p.Glu671Asp) n.2265A>T c.2166A>T (p.Glu722Asp) c.1071A>T (p.Glu357Asp) c.660A>T (p.Glu220Asp) n.2183A>T | |
5 | g.13900407T>C | CA443275528 | DNAH5 | c.2058A>G (p.Glu686=) c.2013A>G (p.Glu671=) n.2265A>G c.2166A>G (p.Glu722=) c.1071A>G (p.Glu357=) c.660A>G (p.Glu220=) n.2183A>G | |
5 | g.13900407T>G | CA359203930 | DNAH5 | c.2058A>C (p.Glu686Asp) c.2013A>C (p.Glu671Asp) n.2265A>C c.2166A>C (p.Glu722Asp) c.1071A>C (p.Glu357Asp) c.660A>C (p.Glu220Asp) n.2183A>C | |
5 | g.13900408T>A | CA359203932 | DNAH5 | c.2057A>T (p.Glu686Val) c.2012A>T (p.Glu671Val) n.2264A>T c.2165A>T (p.Glu722Val) c.1070A>T (p.Glu357Val) c.659A>T (p.Glu220Val) n.2182A>T | |
5 | g.13900408T>C | CA359203934 | DNAH5 | c.2057A>G (p.Glu686Gly) c.2012A>G (p.Glu671Gly) n.2264A>G c.2165A>G (p.Glu722Gly) c.1070A>G (p.Glu357Gly) c.659A>G (p.Glu220Gly) n.2182A>G | |
5 | g.13900408T>G | CA359203935 | DNAH5 | c.2057A>C (p.Glu686Ala) c.2012A>C (p.Glu671Ala) n.2264A>C c.2165A>C (p.Glu722Ala) c.1070A>C (p.Glu357Ala) c.659A>C (p.Glu220Ala) n.2182A>C | |
5 | g.13900409C>A | CA359203937 | DNAH5 | c.2056G>T (p.Glu686Ter) c.2011G>T (p.Glu671Ter) n.2263G>T c.2164G>T (p.Glu722Ter) c.1069G>T (p.Glu357Ter) c.658G>T (p.Glu220Ter) n.2181G>T | COSMIC |
5 | g.13900409C>G | CA359203939 | DNAH5 | c.2056G>C (p.Glu686Gln) c.2011G>C (p.Glu671Gln) n.2263G>C c.2164G>C (p.Glu722Gln) c.1069G>C (p.Glu357Gln) c.658G>C (p.Glu220Gln) n.2181G>C | |
5 | g.13900409C>T | CA359203941 | DNAH5 | c.2056G>A (p.Glu686Lys) c.2011G>A (p.Glu671Lys) n.2263G>A c.2164G>A (p.Glu722Lys) c.1069G>A (p.Glu357Lys) c.658G>A (p.Glu220Lys) n.2181G>A | COSMIC |
5 | g.13900410A>C | CA359203942 | DNAH5 | c.2055T>G (p.Ile685Met) c.2010T>G (p.Ile670Met) n.2262T>G c.2163T>G (p.Ile721Met) c.1068T>G (p.Ile356Met) c.657T>G (p.Ile219Met) n.2180T>G | |
5 | g.13900410A>G | CA443275529 | DNAH5 | c.2055T>C (p.Ile685=) c.2010T>C (p.Ile670=) n.2262T>C c.2163T>C (p.Ile721=) c.1068T>C (p.Ile356=) c.657T>C (p.Ile219=) n.2180T>C | |
5 | g.13900410A>T | CA443275530 | DNAH5 | c.2055T>A (p.Ile685=) c.2010T>A (p.Ile670=) n.2262T>A c.2163T>A (p.Ile721=) c.1068T>A (p.Ile356=) c.657T>A (p.Ile219=) n.2180T>A | |
5 | g.13900411A= | CA1528485071 | DNAH5 | c.2054T= (p.Ile685=) c.2009T= (p.Ile670=) n.2261T= c.2162T= (p.Ile721=) c.1067T= (p.Ile356=) c.656T= (p.Ile219=) n.2179T= | |
5 | g.13900411A>C | CA359203947 | DNAH5 | c.2054T>G (p.Ile685Ser) c.2009T>G (p.Ile670Ser) n.2261T>G c.2162T>G (p.Ile721Ser) c.1067T>G (p.Ile356Ser) c.656T>G (p.Ile219Ser) n.2179T>G | |
5 | g.13900411A>G | CA359203946 | DNAH5 | c.2054T>C (p.Ile685Thr) c.2009T>C (p.Ile670Thr) n.2261T>C c.2162T>C (p.Ile721Thr) c.1067T>C (p.Ile356Thr) c.656T>C (p.Ile219Thr) n.2179T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13900411A>T | CA359203944 | DNAH5 | c.2054T>A (p.Ile685Asn) c.2009T>A (p.Ile670Asn) n.2261T>A c.2162T>A (p.Ile721Asn) c.1067T>A (p.Ile356Asn) c.656T>A (p.Ile219Asn) n.2179T>A | |
5 | g.13900412T>A | CA359203949 | DNAH5 | c.2053A>T (p.Ile685Phe) c.2008A>T (p.Ile670Phe) n.2260A>T c.2161A>T (p.Ile721Phe) c.1066A>T (p.Ile356Phe) c.655A>T (p.Ile219Phe) n.2178A>T | COSMIC |
5 | g.13900412T>C | CA359203950 | DNAH5 | c.2053A>G (p.Ile685Val) c.2008A>G (p.Ile670Val) n.2260A>G c.2161A>G (p.Ile721Val) c.1066A>G (p.Ile356Val) c.655A>G (p.Ile219Val) n.2178A>G |