Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13900398A=CA1528485045DNAH5c.2067T= (p.His689=)
c.2022T= (p.His674=)
n.2274T=
c.2175T= (p.His725=)
c.1080T= (p.His360=)
c.669T= (p.His223=)
n.2192T=
5g.13900398A>CCA359203893DNAH5c.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
5g.13900398A>GCA3204665DNAH5c.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
5g.13900398A>TCA359203894DNAH5c.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
5g.13900399T>ACA359203895DNAH5c.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
5g.13900399T>CCA3204666DNAH5c.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
5g.13900399T>GCA359203897DNAH5c.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
5g.13900399T=CA1528485053DNAH5c.2066A= (p.His689=)
c.2021A= (p.His674=)
n.2273A=
c.2174A= (p.His725=)
c.1079A= (p.His360=)
c.668A= (p.His223=)
n.2191A=
5g.13900400G>ACA359203900DNAH5c.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
5g.13900400G>CCA359203901DNAH5c.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
5g.13900400G=CA1528485067DNAH5c.2065C= (p.His689=)
c.2020C= (p.His674=)
n.2272C=
c.2173C= (p.His725=)
c.1078C= (p.His360=)
c.667C= (p.His223=)
n.2190C=
5g.13900400G>TCA359203903DNAH5c.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
5g.13900400_13900430delinsGAATTTCTTCAATCTGTGGGAAGAAACCAACCA1528485069DNAH5c.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
5g.13900401A>CCA359203905DNAH5c.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
5g.13900401A>GCA443275525DNAH5c.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
5g.13900401A>TCA443275526DNAH5c.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
5g.13900402_13900431delCA1139658749DNAH5c.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
5g.13900402A>CCA359203906DNAH5c.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
5g.13900402A>GCA359203907DNAH5c.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
5g.13900402A>TCA359203909DNAH5c.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
5g.13900403T>ACA359203911DNAH5c.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
5g.13900403T>CCA359203913DNAH5c.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
5g.13900403T>GCA359203915DNAH5c.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
5g.13900404T>ACA359203917DNAH5c.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
5g.13900404T>CCA443275527DNAH5c.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
5g.13900404T>GCA359203918DNAH5c.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
5g.13900405T>ACA359203920DNAH5c.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
5g.13900405T>CCA359203923DNAH5c.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
5g.13900405T>GCA359203921DNAH5c.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
5g.13900406C>ACA359203924DNAH5c.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
5g.13900406C>GCA359203926DNAH5c.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
5g.13900406C>TCA359203927DNAH5c.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
5g.13900407T>ACA359203929DNAH5c.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
5g.13900407T>CCA443275528DNAH5c.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
5g.13900407T>GCA359203930DNAH5c.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
5g.13900408T>ACA359203932DNAH5c.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
5g.13900408T>CCA359203934DNAH5c.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
5g.13900408T>GCA359203935DNAH5c.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
5g.13900409C>ACA359203937DNAH5c.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
5g.13900409C>GCA359203939DNAH5c.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
5g.13900409C>TCA359203941DNAH5c.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
5g.13900410A>CCA359203942DNAH5c.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
5g.13900410A>GCA443275529DNAH5c.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
5g.13900410A>TCA443275530DNAH5c.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
5g.13900411A=CA1528485071DNAH5c.2054T= (p.Ile685=)
c.2009T= (p.Ile670=)
n.2261T=
c.2162T= (p.Ile721=)
c.1067T= (p.Ile356=)
c.656T= (p.Ile219=)
n.2179T=
5g.13900411A>CCA359203947DNAH5c.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
5g.13900411A>GCA359203946DNAH5c.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
5g.13900411A>TCA359203944DNAH5c.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
5g.13900412T>ACA359203949DNAH5c.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
5g.13900412T>CCA359203950DNAH5c.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

Number of alleles fetched