UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13901286A>C | CA359204905 | DNAH5 | c.2018T>G (p.Phe673Cys) c.1973T>G (p.Phe658Cys) n.2225T>G c.2126T>G (p.Phe709Cys) c.1031T>G (p.Phe344Cys) c.620T>G (p.Phe207Cys) n.2143T>G | |
| 5 | g.13901286A>G | CA359204910 | DNAH5 | c.2018T>C (p.Phe673Ser) c.1973T>C (p.Phe658Ser) n.2225T>C c.2126T>C (p.Phe709Ser) c.1031T>C (p.Phe344Ser) c.620T>C (p.Phe207Ser) n.2143T>C | |
| 5 | g.13901286A>T | CA359204914 | DNAH5 | c.2018T>A (p.Phe673Tyr) c.1973T>A (p.Phe658Tyr) n.2225T>A c.2126T>A (p.Phe709Tyr) c.1031T>A (p.Phe344Tyr) c.620T>A (p.Phe207Tyr) n.2143T>A | |
| 5 | g.13901287A>C | CA359204917 | DNAH5 | c.2017T>G (p.Phe673Val) c.1972T>G (p.Phe658Val) n.2224T>G c.2125T>G (p.Phe709Val) c.1030T>G (p.Phe344Val) c.619T>G (p.Phe207Val) n.2142T>G | |
| 5 | g.13901287A>G | CA359204920 | DNAH5 | c.2017T>C (p.Phe673Leu) c.1972T>C (p.Phe658Leu) n.2224T>C c.2125T>C (p.Phe709Leu) c.1030T>C (p.Phe344Leu) c.619T>C (p.Phe207Leu) n.2142T>C | |
| 5 | g.13901287A>T | CA359204922 | DNAH5 | c.2017T>A (p.Phe673Ile) c.1972T>A (p.Phe658Ile) n.2224T>A c.2125T>A (p.Phe709Ile) c.1030T>A (p.Phe344Ile) c.619T>A (p.Phe207Ile) n.2142T>A | |
| 5 | g.13901288C>A | CA359204924 | DNAH5 | c.2016G>T (p.Glu672Asp) c.1971G>T (p.Glu657Asp) n.2223G>T c.2124G>T (p.Glu708Asp) c.1029G>T (p.Glu343Asp) c.618G>T (p.Glu206Asp) n.2141G>T | |
| 5 | g.13901288C>G | CA359204927 | DNAH5 | c.2016G>C (p.Glu672Asp) c.1971G>C (p.Glu657Asp) n.2223G>C c.2124G>C (p.Glu708Asp) c.1029G>C (p.Glu343Asp) c.618G>C (p.Glu206Asp) n.2141G>C | |
| 5 | g.13901288C>T | CA443536680 | DNAH5 | c.2016G>A (p.Glu672=) c.1971G>A (p.Glu657=) n.2223G>A c.2124G>A (p.Glu708=) c.1029G>A (p.Glu343=) c.618G>A (p.Glu206=) n.2141G>A | gnomAD v4 |
| 5 | g.13901289T>A | CA359204933 | DNAH5 | c.2015A>T (p.Glu672Val) c.1970A>T (p.Glu657Val) n.2222A>T c.2123A>T (p.Glu708Val) c.1028A>T (p.Glu343Val) c.617A>T (p.Glu206Val) n.2140A>T | |
| 5 | g.13901289T>C | CA359204936 | DNAH5 | c.2015A>G (p.Glu672Gly) c.1970A>G (p.Glu657Gly) n.2222A>G c.2123A>G (p.Glu708Gly) c.1028A>G (p.Glu343Gly) c.617A>G (p.Glu206Gly) n.2140A>G | |
| 5 | g.13901289T>G | CA359204930 | DNAH5 | c.2015A>C (p.Glu672Ala) c.1970A>C (p.Glu657Ala) n.2222A>C c.2123A>C (p.Glu708Ala) c.1028A>C (p.Glu343Ala) c.617A>C (p.Glu206Ala) n.2140A>C | |
| 5 | g.13901290C>A | CA359204939 | DNAH5 | c.2014G>T (p.Glu672Ter) c.1969G>T (p.Glu657Ter) n.2221G>T c.2122G>T (p.Glu708Ter) c.1027G>T (p.Glu343Ter) c.616G>T (p.Glu206Ter) n.2139G>T | COSMIC |
| 5 | g.13901290C= | CA1528490391 | DNAH5 | c.2014G= (p.Glu672=) c.1969G= (p.Glu657=) n.2221G= c.2122G= (p.Glu708=) c.1027G= (p.Glu343=) c.616G= (p.Glu206=) n.2139G= | |
| 5 | g.13901290C>G | CA359204941 | DNAH5 | c.2014G>C (p.Glu672Gln) c.1969G>C (p.Glu657Gln) n.2221G>C c.2122G>C (p.Glu708Gln) c.1027G>C (p.Glu343Gln) c.616G>C (p.Glu206Gln) n.2139G>C | |
| 5 | g.13901290C>T | CA3204700 | DNAH5 | c.2014G>A (p.Glu672Lys) c.1969G>A (p.Glu657Lys) n.2221G>A c.2122G>A (p.Glu708Lys) c.1027G>A (p.Glu343Lys) c.616G>A (p.Glu206Lys) n.2139G>A | dbSNP ExAC gnomAD v2 |
| 5 | g.13901291C>A | CA443536682 | DNAH5 | c.2013G>T (p.Leu671=) c.1968G>T (p.Leu656=) n.2220G>T c.2121G>T (p.Leu707=) c.1026G>T (p.Leu342=) c.615G>T (p.Leu205=) n.2138G>T | |
| 5 | g.13901291C>G | CA443536683 | DNAH5 | c.2013G>C (p.Leu671=) c.1968G>C (p.Leu656=) n.2220G>C c.2121G>C (p.Leu707=) c.1026G>C (p.Leu342=) c.615G>C (p.Leu205=) n.2138G>C | |
| 5 | g.13901291C>T | CA443536684 | DNAH5 | c.2013G>A (p.Leu671=) c.1968G>A (p.Leu656=) n.2220G>A c.2121G>A (p.Leu707=) c.1026G>A (p.Leu342=) c.615G>A (p.Leu205=) n.2138G>A | COSMIC |
| 5 | g.13901292A>C | CA359204946 | DNAH5 | c.2012T>G (p.Leu671Arg) c.1967T>G (p.Leu656Arg) n.2219T>G c.2120T>G (p.Leu707Arg) c.1025T>G (p.Leu342Arg) c.614T>G (p.Leu205Arg) n.2137T>G | |
| 5 | g.13901292A>G | CA359204947 | DNAH5 | c.2012T>C (p.Leu671Pro) c.1967T>C (p.Leu656Pro) n.2219T>C c.2120T>C (p.Leu707Pro) c.1025T>C (p.Leu342Pro) c.614T>C (p.Leu205Pro) n.2137T>C | gnomAD v4 |
| 5 | g.13901292A>T | CA359204948 | DNAH5 | c.2012T>A (p.Leu671Gln) c.1967T>A (p.Leu656Gln) n.2219T>A c.2120T>A (p.Leu707Gln) c.1025T>A (p.Leu342Gln) c.614T>A (p.Leu205Gln) n.2137T>A | |
| 5 | g.13901292_13901293delinsAG | CA1528490392 | DNAH5 | c.2011_2012delinsCT (p.Leu671=) c.1966_1967delinsCT (p.Leu656=) n.2218_2219delinsCT c.2119_2120delinsCT (p.Leu707=) c.1024_1025delinsCT (p.Leu342=) c.613_614delinsCT (p.Leu205=) n.2136_2137delinsCT | |
| 5 | g.13901293G>A | CA443536686 | DNAH5 | c.2011C>T (p.Leu671=) c.1966C>T (p.Leu656=) n.2218C>T c.2119C>T (p.Leu707=) c.1024C>T (p.Leu342=) c.613C>T (p.Leu205=) n.2136C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901293G>C | CA359204950 | DNAH5 | c.2011C>G (p.Leu671Val) c.1966C>G (p.Leu656Val) n.2218C>G c.2119C>G (p.Leu707Val) c.1024C>G (p.Leu342Val) c.613C>G (p.Leu205Val) n.2136C>G | |
| 5 | g.13901293G= | CA1528490393 | DNAH5 | c.2011C= (p.Leu671=) c.1966C= (p.Leu656=) n.2218C= c.2119C= (p.Leu707=) c.1024C= (p.Leu342=) c.613C= (p.Leu205=) n.2136C= | |
| 5 | g.13901293G>T | CA359204949 | DNAH5 | c.2011C>A (p.Leu671Met) c.1966C>A (p.Leu656Met) n.2218C>A c.2119C>A (p.Leu707Met) c.1024C>A (p.Leu342Met) c.613C>A (p.Leu205Met) n.2136C>A | |
| 5 | g.13901294del | CA804559170 | DNAH5 | c.2011del (p.Leu671TrpfsTer20) c.1966del (p.Leu656TrpfsTer20) n.2218del c.2119del (p.Leu707TrpfsTer20) c.1024del (p.Leu342TrpfsTer20) c.613del (p.Leu205TrpfsTer20) n.2136del | dbSNP |
| 5 | g.13901294G>A | CA443536687 | DNAH5 | c.2010C>T (p.Leu670=) c.1965C>T (p.Leu655=) n.2217C>T c.2118C>T (p.Leu706=) c.1023C>T (p.Leu341=) c.612C>T (p.Leu204=) n.2135C>T | gnomAD v4 |
| 5 | g.13901294G>C | CA443536688 | DNAH5 | c.2010C>G (p.Leu670=) c.1965C>G (p.Leu655=) n.2217C>G c.2118C>G (p.Leu706=) c.1023C>G (p.Leu341=) c.612C>G (p.Leu204=) n.2135C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901294G= | CA1528490394 | DNAH5 | c.2010C= (p.Leu670=) c.1965C= (p.Leu655=) n.2217C= c.2118C= (p.Leu706=) c.1023C= (p.Leu341=) c.612C= (p.Leu204=) n.2135C= | |
| 5 | g.13901294G>T | CA443536689 | DNAH5 | c.2010C>A (p.Leu670=) c.1965C>A (p.Leu655=) n.2217C>A c.2118C>A (p.Leu706=) c.1023C>A (p.Leu341=) c.612C>A (p.Leu204=) n.2135C>A | |
| 5 | g.13901295A>C | CA359204952 | DNAH5 | c.2009T>G (p.Leu670Arg) c.1964T>G (p.Leu655Arg) n.2216T>G c.2117T>G (p.Leu706Arg) c.1022T>G (p.Leu341Arg) c.611T>G (p.Leu204Arg) n.2134T>G | |
| 5 | g.13901295A>G | CA359204954 | DNAH5 | c.2009T>C (p.Leu670Pro) c.1964T>C (p.Leu655Pro) n.2216T>C c.2117T>C (p.Leu706Pro) c.1022T>C (p.Leu341Pro) c.611T>C (p.Leu204Pro) n.2134T>C | |
| 5 | g.13901295A>T | CA359204955 | DNAH5 | c.2009T>A (p.Leu670His) c.1964T>A (p.Leu655His) n.2216T>A c.2117T>A (p.Leu706His) c.1022T>A (p.Leu341His) c.611T>A (p.Leu204His) n.2134T>A | |
| 5 | g.13901296G>A | CA359204956 | DNAH5 | c.2008C>T (p.Leu670Phe) c.1963C>T (p.Leu655Phe) n.2215C>T c.2116C>T (p.Leu706Phe) c.1021C>T (p.Leu341Phe) c.610C>T (p.Leu204Phe) n.2133C>T | dbSNP gnomAD v4 |
| 5 | g.13901296G>C | CA359204957 | DNAH5 | c.2008C>G (p.Leu670Val) c.1963C>G (p.Leu655Val) n.2215C>G c.2116C>G (p.Leu706Val) c.1021C>G (p.Leu341Val) c.610C>G (p.Leu204Val) n.2133C>G | |
| 5 | g.13901296G= | CA1528490395 | DNAH5 | c.2008C= (p.Leu670=) c.1963C= (p.Leu655=) n.2215C= c.2116C= (p.Leu706=) c.1021C= (p.Leu341=) c.610C= (p.Leu204=) n.2133C= | |
| 5 | g.13901296G>T | CA359204958 | DNAH5 | c.2008C>A (p.Leu670Ile) c.1963C>A (p.Leu655Ile) n.2215C>A c.2116C>A (p.Leu706Ile) c.1021C>A (p.Leu341Ile) c.610C>A (p.Leu204Ile) n.2133C>A | dbSNP |
| 5 | g.13901297del | CA2578271073 | DNAH5 | c.2008del (p.Leu670SerfsTer21) c.1963del (p.Leu655SerfsTer21) n.2215del c.2116del (p.Leu706SerfsTer21) c.1021del (p.Leu341SerfsTer21) c.610del (p.Leu204SerfsTer21) n.2133del | |
| 5 | g.13901297G>A | CA443536693 | DNAH5 | c.2007C>T (p.Val669=) c.1962C>T (p.Val654=) n.2214C>T c.2115C>T (p.Val705=) c.1020C>T (p.Val340=) c.609C>T (p.Val203=) n.2132C>T | ClinVar |
| 5 | g.13901297G>C | CA443536694 | DNAH5 | c.2007C>G (p.Val669=) c.1962C>G (p.Val654=) n.2214C>G c.2115C>G (p.Val705=) c.1020C>G (p.Val340=) c.609C>G (p.Val203=) n.2132C>G | dbSNP gnomAD v4 |
| 5 | g.13901297G= | CA1528490396 | DNAH5 | c.2007C= (p.Val669=) c.1962C= (p.Val654=) n.2214C= c.2115C= (p.Val705=) c.1020C= (p.Val340=) c.609C= (p.Val203=) n.2132C= | |
| 5 | g.13901297G>T | CA443536695 | DNAH5 | c.2007C>A (p.Val669=) c.1962C>A (p.Val654=) n.2214C>A c.2115C>A (p.Val705=) c.1020C>A (p.Val340=) c.609C>A (p.Val203=) n.2132C>A | |
| 5 | g.13901298A>C | CA359204961 | DNAH5 | c.2006T>G (p.Val669Gly) c.1961T>G (p.Val654Gly) n.2213T>G c.2114T>G (p.Val705Gly) c.1019T>G (p.Val340Gly) c.608T>G (p.Val203Gly) n.2131T>G | |
| 5 | g.13901298A>G | CA359204972 | DNAH5 | c.2006T>C (p.Val669Ala) c.1961T>C (p.Val654Ala) n.2213T>C c.2114T>C (p.Val705Ala) c.1019T>C (p.Val340Ala) c.608T>C (p.Val203Ala) n.2131T>C | |
| 5 | g.13901298A>T | CA359204964 | DNAH5 | c.2006T>A (p.Val669Asp) c.1961T>A (p.Val654Asp) n.2213T>A c.2114T>A (p.Val705Asp) c.1019T>A (p.Val340Asp) c.608T>A (p.Val203Asp) n.2131T>A | |
| 5 | g.13901299C>A | CA359204975 | DNAH5 | c.2005G>T (p.Val669Phe) c.1960G>T (p.Val654Phe) n.2212G>T c.2113G>T (p.Val705Phe) c.1018G>T (p.Val340Phe) c.607G>T (p.Val203Phe) n.2130G>T | gnomAD v4 |
| 5 | g.13901299C>G | CA359204978 | DNAH5 | c.2005G>C (p.Val669Leu) c.1960G>C (p.Val654Leu) n.2212G>C c.2113G>C (p.Val705Leu) c.1018G>C (p.Val340Leu) c.607G>C (p.Val203Leu) n.2130G>C | |
| 5 | g.13901299C>T | CA359204982 | DNAH5 | c.2005G>A (p.Val669Ile) c.1960G>A (p.Val654Ile) n.2212G>A c.2113G>A (p.Val705Ile) c.1018G>A (p.Val340Ile) c.607G>A (p.Val203Ile) n.2130G>A | |
| 5 | g.13901300C>A | CA359204986 | DNAH5 | c.2004G>T (p.Lys668Asn) c.1959G>T (p.Lys653Asn) n.2211G>T c.2112G>T (p.Lys704Asn) c.1017G>T (p.Lys339Asn) c.606G>T (p.Lys202Asn) n.2129G>T | |
| 5 | g.13901300C= | CA1528490397 | DNAH5 | c.2004G= (p.Lys668=) c.1959G= (p.Lys653=) n.2211G= c.2112G= (p.Lys704=) c.1017G= (p.Lys339=) c.606G= (p.Lys202=) n.2129G= | |
| 5 | g.13901300C>G | CA359204989 | DNAH5 | c.2004G>C (p.Lys668Asn) c.1959G>C (p.Lys653Asn) n.2211G>C c.2112G>C (p.Lys704Asn) c.1017G>C (p.Lys339Asn) c.606G>C (p.Lys202Asn) n.2129G>C | ClinVar dbSNP |
| 5 | g.13901300C>T | CA443536699 | DNAH5 | c.2004G>A (p.Lys668=) c.1959G>A (p.Lys653=) n.2211G>A c.2112G>A (p.Lys704=) c.1017G>A (p.Lys339=) c.606G>A (p.Lys202=) n.2129G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901301T>A | CA359204991 | DNAH5 | c.2003A>T (p.Lys668Met) c.1958A>T (p.Lys653Met) n.2210A>T c.2111A>T (p.Lys704Met) c.1016A>T (p.Lys339Met) c.605A>T (p.Lys202Met) n.2128A>T | |
| 5 | g.13901301T>C | CA359204993 | DNAH5 | c.2003A>G (p.Lys668Arg) c.1958A>G (p.Lys653Arg) n.2210A>G c.2111A>G (p.Lys704Arg) c.1016A>G (p.Lys339Arg) c.605A>G (p.Lys202Arg) n.2128A>G | |
| 5 | g.13901301T>G | CA359204995 | DNAH5 | c.2003A>C (p.Lys668Thr) c.1958A>C (p.Lys653Thr) n.2210A>C c.2111A>C (p.Lys704Thr) c.1016A>C (p.Lys339Thr) c.605A>C (p.Lys202Thr) n.2128A>C | |
| 5 | g.13901302dup | CA2673279621 | DNAH5 | c.2003dup (p.Val669GlyfsTer6) c.1958dup (p.Val654GlyfsTer6) n.2210dup c.2111dup (p.Val705GlyfsTer6) c.1016dup (p.Val340GlyfsTer6) c.605dup (p.Val203GlyfsTer6) n.2128dup | gnomAD v4 |
| 5 | g.13901302T>A | CA359204998 | DNAH5 | c.2002A>T (p.Lys668Ter) c.1957A>T (p.Lys653Ter) n.2209A>T c.2110A>T (p.Lys704Ter) c.1015A>T (p.Lys339Ter) c.604A>T (p.Lys202Ter) n.2127A>T | |
| 5 | g.13901302T>C | CA359205001 | DNAH5 | c.2002A>G (p.Lys668Glu) c.1957A>G (p.Lys653Glu) n.2209A>G c.2110A>G (p.Lys704Glu) c.1015A>G (p.Lys339Glu) c.604A>G (p.Lys202Glu) n.2127A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901302T>G | CA359205003 | DNAH5 | c.2002A>C (p.Lys668Gln) c.1957A>C (p.Lys653Gln) n.2209A>C c.2110A>C (p.Lys704Gln) c.1015A>C (p.Lys339Gln) c.604A>C (p.Lys202Gln) n.2127A>C | |
| 5 | g.13901302T= | CA1528490398 | DNAH5 | c.2002A= (p.Lys668=) c.1957A= (p.Lys653=) n.2209A= c.2110A= (p.Lys704=) c.1015A= (p.Lys339=) c.604A= (p.Lys202=) n.2127A= | |
| 5 | g.13901303G>A | CA443536700 | DNAH5 | c.2001C>T (p.Ala667=) c.1956C>T (p.Ala652=) n.2208C>T c.2109C>T (p.Ala703=) c.1014C>T (p.Ala338=) c.603C>T (p.Ala201=) n.2126C>T | ClinVar dbSNP |
| 5 | g.13901303G>C | CA443536701 | DNAH5 | c.2001C>G (p.Ala667=) c.1956C>G (p.Ala652=) n.2208C>G c.2109C>G (p.Ala703=) c.1014C>G (p.Ala338=) c.603C>G (p.Ala201=) n.2126C>G | |
| 5 | g.13901303G= | CA1528490399 | DNAH5 | c.2001C= (p.Ala667=) c.1956C= (p.Ala652=) n.2208C= c.2109C= (p.Ala703=) c.1014C= (p.Ala338=) c.603C= (p.Ala201=) n.2126C= | |
| 5 | g.13901303G>T | CA443536702 | DNAH5 | c.2001C>A (p.Ala667=) c.1956C>A (p.Ala652=) n.2208C>A c.2109C>A (p.Ala703=) c.1014C>A (p.Ala338=) c.603C>A (p.Ala201=) n.2126C>A | dbSNP |
| 5 | g.13901304G>A | CA359205012 | DNAH5 | c.2000C>T (p.Ala667Val) c.1955C>T (p.Ala652Val) n.2207C>T c.2108C>T (p.Ala703Val) c.1013C>T (p.Ala338Val) c.602C>T (p.Ala201Val) n.2125C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901304G>C | CA359205010 | DNAH5 | c.2000C>G (p.Ala667Gly) c.1955C>G (p.Ala652Gly) n.2207C>G c.2108C>G (p.Ala703Gly) c.1013C>G (p.Ala338Gly) c.602C>G (p.Ala201Gly) n.2125C>G | |
| 5 | g.13901304G= | CA1528490400 | DNAH5 | c.2000C= (p.Ala667=) c.1955C= (p.Ala652=) n.2207C= c.2108C= (p.Ala703=) c.1013C= (p.Ala338=) c.602C= (p.Ala201=) n.2125C= | |
| 5 | g.13901304G>T | CA359205009 | DNAH5 | c.2000C>A (p.Ala667Asp) c.1955C>A (p.Ala652Asp) n.2207C>A c.2108C>A (p.Ala703Asp) c.1013C>A (p.Ala338Asp) c.602C>A (p.Ala201Asp) n.2125C>A | |
| 5 | g.13901305C>A | CA359205014 | DNAH5 | c.1999G>T (p.Ala667Ser) c.1954G>T (p.Ala652Ser) n.2206G>T c.2107G>T (p.Ala703Ser) c.1012G>T (p.Ala338Ser) c.601G>T (p.Ala201Ser) n.2124G>T | |
| 5 | g.13901305C= | CA1528490401 | DNAH5 | c.1999G= (p.Ala667=) c.1954G= (p.Ala652=) n.2206G= c.2107G= (p.Ala703=) c.1012G= (p.Ala338=) c.601G= (p.Ala201=) n.2124G= | |
| 5 | g.13901305C>G | CA359205018 | DNAH5 | c.1999G>C (p.Ala667Pro) c.1954G>C (p.Ala652Pro) n.2206G>C c.2107G>C (p.Ala703Pro) c.1012G>C (p.Ala338Pro) c.601G>C (p.Ala201Pro) n.2124G>C | |
| 5 | g.13901305C>T | CA359205016 | DNAH5 | c.1999G>A (p.Ala667Thr) c.1954G>A (p.Ala652Thr) n.2206G>A c.2107G>A (p.Ala703Thr) c.1012G>A (p.Ala338Thr) c.601G>A (p.Ala201Thr) n.2124G>A | dbSNP |
| 5 | g.13901306C>A | CA359205022 | DNAH5 | c.1998G>T (p.Met666Ile) c.1953G>T (p.Met651Ile) n.2205G>T c.2106G>T (p.Met702Ile) c.1011G>T (p.Met337Ile) c.600G>T (p.Met200Ile) n.2123G>T | |
| 5 | g.13901306C>G | CA359205025 | DNAH5 | c.1998G>C (p.Met666Ile) c.1953G>C (p.Met651Ile) n.2205G>C c.2106G>C (p.Met702Ile) c.1011G>C (p.Met337Ile) c.600G>C (p.Met200Ile) n.2123G>C | |
| 5 | g.13901306C>T | CA359205035 | DNAH5 | c.1998G>A (p.Met666Ile) c.1953G>A (p.Met651Ile) n.2205G>A c.2106G>A (p.Met702Ile) c.1011G>A (p.Met337Ile) c.600G>A (p.Met200Ile) n.2123G>A | |
| 5 | g.13901307A>C | CA359205040 | DNAH5 | c.1997T>G (p.Met666Arg) c.1952T>G (p.Met651Arg) n.2204T>G c.2105T>G (p.Met702Arg) c.1010T>G (p.Met337Arg) c.599T>G (p.Met200Arg) n.2122T>G | |
| 5 | g.13901307A>G | CA359205043 | DNAH5 | c.1997T>C (p.Met666Thr) c.1952T>C (p.Met651Thr) n.2204T>C c.2105T>C (p.Met702Thr) c.1010T>C (p.Met337Thr) c.599T>C (p.Met200Thr) n.2122T>C | |
| 5 | g.13901307A>T | CA359205046 | DNAH5 | c.1997T>A (p.Met666Lys) c.1952T>A (p.Met651Lys) n.2204T>A c.2105T>A (p.Met702Lys) c.1010T>A (p.Met337Lys) c.599T>A (p.Met200Lys) n.2122T>A | |
| 5 | g.13901308T>A | CA359205049 | DNAH5 | c.1996A>T (p.Met666Leu) c.1951A>T (p.Met651Leu) n.2203A>T c.2104A>T (p.Met702Leu) c.1009A>T (p.Met337Leu) c.598A>T (p.Met200Leu) n.2121A>T | |
| 5 | g.13901308T>C | CA359205050 | DNAH5 | c.1996A>G (p.Met666Val) c.1951A>G (p.Met651Val) n.2203A>G c.2104A>G (p.Met702Val) c.1009A>G (p.Met337Val) c.598A>G (p.Met200Val) n.2121A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901308T>G | CA359205053 | DNAH5 | c.1996A>C (p.Met666Leu) c.1951A>C (p.Met651Leu) n.2203A>C c.2104A>C (p.Met702Leu) c.1009A>C (p.Met337Leu) c.598A>C (p.Met200Leu) n.2121A>C | |
| 5 | g.13901308T= | CA1528490402 | DNAH5 | c.1996A= (p.Met666=) c.1951A= (p.Met651=) n.2203A= c.2104A= (p.Met702=) c.1009A= (p.Met337=) c.598A= (p.Met200=) n.2121A= | |
| 5 | g.13901309C>A | CA359205056 | DNAH5 | c.1995G>T (p.Arg665Ser) c.1950G>T (p.Arg650Ser) n.2202G>T c.2103G>T (p.Arg701Ser) c.1008G>T (p.Arg336Ser) c.597G>T (p.Arg199Ser) n.2120G>T | |
| 5 | g.13901309C>G | CA359205058 | DNAH5 | c.1995G>C (p.Arg665Ser) c.1950G>C (p.Arg650Ser) n.2202G>C c.2103G>C (p.Arg701Ser) c.1008G>C (p.Arg336Ser) c.597G>C (p.Arg199Ser) n.2120G>C | |
| 5 | g.13901309C>T | CA443536705 | DNAH5 | c.1995G>A (p.Arg665=) c.1950G>A (p.Arg650=) n.2202G>A c.2103G>A (p.Arg701=) c.1008G>A (p.Arg336=) c.597G>A (p.Arg199=) n.2120G>A | COSMIC |
| 5 | g.13901310C>A | CA359205064 | DNAH5 | c.1994G>T (p.Arg665Met) c.1949G>T (p.Arg650Met) n.2201G>T c.2102G>T (p.Arg701Met) c.1007G>T (p.Arg336Met) c.596G>T (p.Arg199Met) n.2119G>T | dbSNP |
| 5 | g.13901310C>G | CA359205062 | DNAH5 | c.1994G>C (p.Arg665Thr) c.1949G>C (p.Arg650Thr) n.2201G>C c.2102G>C (p.Arg701Thr) c.1007G>C (p.Arg336Thr) c.596G>C (p.Arg199Thr) n.2119G>C | gnomAD v4 |
| 5 | g.13901310C>T | CA359205060 | DNAH5 | c.1994G>A (p.Arg665Lys) c.1949G>A (p.Arg650Lys) n.2201G>A c.2102G>A (p.Arg701Lys) c.1007G>A (p.Arg336Lys) c.596G>A (p.Arg199Lys) n.2119G>A | |
| 5 | g.13901311T>A | CA359205065 | DNAH5 | c.1993A>T (p.Arg665Trp) c.1948A>T (p.Arg650Trp) n.2200A>T c.2101A>T (p.Arg701Trp) c.1006A>T (p.Arg336Trp) c.595A>T (p.Arg199Trp) n.2118A>T | |
| 5 | g.13901311T>C | CA359205067 | DNAH5 | c.1993A>G (p.Arg665Gly) c.1948A>G (p.Arg650Gly) n.2200A>G c.2101A>G (p.Arg701Gly) c.1006A>G (p.Arg336Gly) c.595A>G (p.Arg199Gly) n.2118A>G | |
| 5 | g.13901311T>G | CA443536709 | DNAH5 | c.1993A>C (p.Arg665=) c.1948A>C (p.Arg650=) n.2200A>C c.2101A>C (p.Arg701=) c.1006A>C (p.Arg336=) c.595A>C (p.Arg199=) n.2118A>C | |
| 5 | g.13901312G>A | CA443536711 | DNAH5 | c.1992C>T (p.Asn664=) c.1947C>T (p.Asn649=) n.2199C>T c.2100C>T (p.Asn700=) c.1005C>T (p.Asn335=) c.594C>T (p.Asn198=) n.2117C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901312G>C | CA359205070 | DNAH5 | c.1992C>G (p.Asn664Lys) c.1947C>G (p.Asn649Lys) n.2199C>G c.2100C>G (p.Asn700Lys) c.1005C>G (p.Asn335Lys) c.594C>G (p.Asn198Lys) n.2117C>G | |
| 5 | g.13901312G= | CA1528490403 | DNAH5 | c.1992C= (p.Asn664=) c.1947C= (p.Asn649=) n.2199C= c.2100C= (p.Asn700=) c.1005C= (p.Asn335=) c.594C= (p.Asn198=) n.2117C= | |
| 5 | g.13901312G>T | CA359205072 | DNAH5 | c.1992C>A (p.Asn664Lys) c.1947C>A (p.Asn649Lys) n.2199C>A c.2100C>A (p.Asn700Lys) c.1005C>A (p.Asn335Lys) c.594C>A (p.Asn198Lys) n.2117C>A | |
| 5 | g.13901313T>A | CA359205075 | DNAH5 | c.1991A>T (p.Asn664Ile) c.1946A>T (p.Asn649Ile) n.2198A>T c.2099A>T (p.Asn700Ile) c.1004A>T (p.Asn335Ile) c.593A>T (p.Asn198Ile) n.2116A>T | |
| 5 | g.13901313T>C | CA359205076 | DNAH5 | c.1991A>G (p.Asn664Ser) c.1946A>G (p.Asn649Ser) n.2198A>G c.2099A>G (p.Asn700Ser) c.1004A>G (p.Asn335Ser) c.593A>G (p.Asn198Ser) n.2116A>G | dbSNP gnomAD v2 |
| 5 | g.13901313T>G | CA359205078 | DNAH5 | c.1991A>C (p.Asn664Thr) c.1946A>C (p.Asn649Thr) n.2198A>C c.2099A>C (p.Asn700Thr) c.1004A>C (p.Asn335Thr) c.593A>C (p.Asn198Thr) n.2116A>C | |
| 5 | g.13901313T= | CA1528490404 | DNAH5 | c.1991A= (p.Asn664=) c.1946A= (p.Asn649=) n.2198A= c.2099A= (p.Asn700=) c.1004A= (p.Asn335=) c.593A= (p.Asn198=) n.2116A= | |
| 5 | g.13901314T>A | CA359205080 | DNAH5 | c.1990A>T (p.Asn664Tyr) c.1945A>T (p.Asn649Tyr) n.2197A>T c.2098A>T (p.Asn700Tyr) c.1003A>T (p.Asn335Tyr) c.592A>T (p.Asn198Tyr) n.2115A>T | |
| 5 | g.13901314T>C | CA359205091 | DNAH5 | c.1990A>G (p.Asn664Asp) c.1945A>G (p.Asn649Asp) n.2197A>G c.2098A>G (p.Asn700Asp) c.1003A>G (p.Asn335Asp) c.592A>G (p.Asn198Asp) n.2115A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901314T>G | CA359205094 | DNAH5 | c.1990A>C (p.Asn664His) c.1945A>C (p.Asn649His) n.2197A>C c.2098A>C (p.Asn700His) c.1003A>C (p.Asn335His) c.592A>C (p.Asn198His) n.2115A>C | |
| 5 | g.13901314T= | CA1528490405 | DNAH5 | c.1990A= (p.Asn664=) c.1945A= (p.Asn649=) n.2197A= c.2098A= (p.Asn700=) c.1003A= (p.Asn335=) c.592A= (p.Asn198=) n.2115A= | |
| 5 | g.13901315G>A | CA443536714 | DNAH5 | c.1989C>T (p.Tyr663=) c.1944C>T (p.Tyr648=) n.2196C>T c.2097C>T (p.Tyr699=) c.1002C>T (p.Tyr334=) c.591C>T (p.Tyr197=) n.2114C>T | |
| 5 | g.13901315G>C | CA359205097 | DNAH5 | c.1989C>G (p.Tyr663Ter) c.1944C>G (p.Tyr648Ter) n.2196C>G c.2097C>G (p.Tyr699Ter) c.1002C>G (p.Tyr334Ter) c.591C>G (p.Tyr197Ter) n.2114C>G | gnomAD v4 |
| 5 | g.13901315G>T | CA359205099 | DNAH5 | c.1989C>A (p.Tyr663Ter) c.1944C>A (p.Tyr648Ter) n.2196C>A c.2097C>A (p.Tyr699Ter) c.1002C>A (p.Tyr334Ter) c.591C>A (p.Tyr197Ter) n.2114C>A | ClinVar |
| 5 | g.13901316T>A | CA359205108 | DNAH5 | c.1988A>T (p.Tyr663Phe) c.1943A>T (p.Tyr648Phe) n.2195A>T c.2096A>T (p.Tyr699Phe) c.1001A>T (p.Tyr334Phe) c.590A>T (p.Tyr197Phe) n.2113A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901316T>C | CA3204701 | DNAH5 | c.1988A>G (p.Tyr663Cys) c.1943A>G (p.Tyr648Cys) n.2195A>G c.2096A>G (p.Tyr699Cys) c.1001A>G (p.Tyr334Cys) c.590A>G (p.Tyr197Cys) n.2113A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901316T>G | CA359205104 | DNAH5 | c.1988A>C (p.Tyr663Ser) c.1943A>C (p.Tyr648Ser) n.2195A>C c.2096A>C (p.Tyr699Ser) c.1001A>C (p.Tyr334Ser) c.590A>C (p.Tyr197Ser) n.2113A>C | |
| 5 | g.13901316T= | CA1528490406 | DNAH5 | c.1988A= (p.Tyr663=) c.1943A= (p.Tyr648=) n.2195A= c.2096A= (p.Tyr699=) c.1001A= (p.Tyr334=) c.590A= (p.Tyr197=) n.2113A= | |
| 5 | g.13901316dup | CA2697547045 | DNAH5 | c.1988dup (p.Tyr663Ter) c.1943dup (p.Tyr648Ter) n.2195dup c.2096dup (p.Tyr699Ter) c.1001dup (p.Tyr334Ter) c.590dup (p.Tyr197Ter) n.2113dup | ClinVar |
| 5 | g.13901317A>C | CA359205113 | DNAH5 | c.1987T>G (p.Tyr663Asp) c.1942T>G (p.Tyr648Asp) n.2194T>G c.2095T>G (p.Tyr699Asp) c.1000T>G (p.Tyr334Asp) c.589T>G (p.Tyr197Asp) n.2112T>G | |
| 5 | g.13901317A>G | CA359205115 | DNAH5 | c.1987T>C (p.Tyr663His) c.1942T>C (p.Tyr648His) n.2194T>C c.2095T>C (p.Tyr699His) c.1000T>C (p.Tyr334His) c.589T>C (p.Tyr197His) n.2112T>C | |
| 5 | g.13901317A>T | CA359205118 | DNAH5 | c.1987T>A (p.Tyr663Asn) c.1942T>A (p.Tyr648Asn) n.2194T>A c.2095T>A (p.Tyr699Asn) c.1000T>A (p.Tyr334Asn) c.589T>A (p.Tyr197Asn) n.2112T>A | |
| 5 | g.13901318A>C | CA359205121 | DNAH5 | c.1986T>G (p.Ser662Arg) c.1941T>G (p.Ser647Arg) n.2193T>G c.2094T>G (p.Ser698Arg) c.999T>G (p.Ser333Arg) c.588T>G (p.Ser196Arg) n.2111T>G | |
| 5 | g.13901318A>G | CA443536716 | DNAH5 | c.1986T>C (p.Ser662=) c.1941T>C (p.Ser647=) n.2193T>C c.2094T>C (p.Ser698=) c.999T>C (p.Ser333=) c.588T>C (p.Ser196=) n.2111T>C | |
| 5 | g.13901318A>T | CA359205124 | DNAH5 | c.1986T>A (p.Ser662Arg) c.1941T>A (p.Ser647Arg) n.2193T>A c.2094T>A (p.Ser698Arg) c.999T>A (p.Ser333Arg) c.588T>A (p.Ser196Arg) n.2111T>A | |
| 5 | g.13901319C>A | CA359205132 | DNAH5 | c.1985G>T (p.Ser662Ile) c.1940G>T (p.Ser647Ile) n.2192G>T c.2093G>T (p.Ser698Ile) c.998G>T (p.Ser333Ile) c.587G>T (p.Ser196Ile) n.2110G>T | |
| 5 | g.13901319C>G | CA359205129 | DNAH5 | c.1985G>C (p.Ser662Thr) c.1940G>C (p.Ser647Thr) n.2192G>C c.2093G>C (p.Ser698Thr) c.998G>C (p.Ser333Thr) c.587G>C (p.Ser196Thr) n.2110G>C | |
| 5 | g.13901319C>T | CA359205126 | DNAH5 | c.1985G>A (p.Ser662Asn) c.1940G>A (p.Ser647Asn) n.2192G>A c.2093G>A (p.Ser698Asn) c.998G>A (p.Ser333Asn) c.587G>A (p.Ser196Asn) n.2110G>A | |
| 5 | g.13901320T>A | CA359205135 | DNAH5 | c.1984A>T (p.Ser662Cys) c.1939A>T (p.Ser647Cys) n.2191A>T c.2092A>T (p.Ser698Cys) c.997A>T (p.Ser333Cys) c.586A>T (p.Ser196Cys) n.2109A>T | |
| 5 | g.13901320T>C | CA113944114 | DNAH5 | c.1984A>G (p.Ser662Gly) c.1939A>G (p.Ser647Gly) n.2191A>G c.2092A>G (p.Ser698Gly) c.997A>G (p.Ser333Gly) c.586A>G (p.Ser196Gly) n.2109A>G | dbSNP gnomAD v4 |
| 5 | g.13901320T>G | CA359205145 | DNAH5 | c.1984A>C (p.Ser662Arg) c.1939A>C (p.Ser647Arg) n.2191A>C c.2092A>C (p.Ser698Arg) c.997A>C (p.Ser333Arg) c.586A>C (p.Ser196Arg) n.2109A>C | |
| 5 | g.13901320T= | CA1528490407 | DNAH5 | c.1984A= (p.Ser662=) c.1939A= (p.Ser647=) n.2191A= c.2092A= (p.Ser698=) c.997A= (p.Ser333=) c.586A= (p.Ser196=) n.2109A= | |
| 5 | g.13901321G>A | CA443536717 | DNAH5 | c.1983C>T (p.Arg661=) c.1938C>T (p.Arg646=) n.2190C>T c.2091C>T (p.Arg697=) c.996C>T (p.Arg332=) c.585C>T (p.Arg195=) n.2108C>T | |
| 5 | g.13901321G>C | CA443536719 | DNAH5 | c.1983C>G (p.Arg661=) c.1938C>G (p.Arg646=) n.2190C>G c.2091C>G (p.Arg697=) c.996C>G (p.Arg332=) c.585C>G (p.Arg195=) n.2108C>G | |
| 5 | g.13901321G>T | CA443536718 | DNAH5 | c.1983C>A (p.Arg661=) c.1938C>A (p.Arg646=) n.2190C>A c.2091C>A (p.Arg697=) c.996C>A (p.Arg332=) c.585C>A (p.Arg195=) n.2108C>A | |
| 5 | g.13901322C>A | CA359205151 | DNAH5 | c.1982G>T (p.Arg661Leu) c.1937G>T (p.Arg646Leu) n.2189G>T c.2090G>T (p.Arg697Leu) c.995G>T (p.Arg332Leu) c.584G>T (p.Arg195Leu) n.2107G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901322C= | CA1528490408 | DNAH5 | c.1982G= (p.Arg661=) c.1937G= (p.Arg646=) n.2189G= c.2090G= (p.Arg697=) c.995G= (p.Arg332=) c.584G= (p.Arg195=) n.2107G= | |
| 5 | g.13901322C>G | CA359205155 | DNAH5 | c.1982G>C (p.Arg661Pro) c.1937G>C (p.Arg646Pro) n.2189G>C c.2090G>C (p.Arg697Pro) c.995G>C (p.Arg332Pro) c.584G>C (p.Arg195Pro) n.2107G>C | |
| 5 | g.13901322C>T | CA3204702 | DNAH5 | c.1982G>A (p.Arg661His) c.1937G>A (p.Arg646His) n.2189G>A c.2090G>A (p.Arg697His) c.995G>A (p.Arg332His) c.584G>A (p.Arg195His) n.2107G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901323G>A | CA3204703 | DNAH5 | c.1981C>T (p.Arg661Cys) c.1936C>T (p.Arg646Cys) n.2188C>T c.2089C>T (p.Arg697Cys) c.994C>T (p.Arg332Cys) c.583C>T (p.Arg195Cys) n.2106C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13901323G>C | CA359205163 | DNAH5 | c.1981C>G (p.Arg661Gly) c.1936C>G (p.Arg646Gly) n.2188C>G c.2089C>G (p.Arg697Gly) c.994C>G (p.Arg332Gly) c.583C>G (p.Arg195Gly) n.2106C>G | |
| 5 | g.13901323G= | CA1528490409 | DNAH5 | c.1981C= (p.Arg661=) c.1936C= (p.Arg646=) n.2188C= c.2089C= (p.Arg697=) c.994C= (p.Arg332=) c.583C= (p.Arg195=) n.2106C= | |
| 5 | g.13901323G>T | CA359205161 | DNAH5 | c.1981C>A (p.Arg661Ser) c.1936C>A (p.Arg646Ser) n.2188C>A c.2089C>A (p.Arg697Ser) c.994C>A (p.Arg332Ser) c.583C>A (p.Arg195Ser) n.2106C>A | dbSNP gnomAD v4 |
| 5 | g.13901324A>C | CA359205165 | DNAH5 | c.1980T>G (p.Ile660Met) c.1935T>G (p.Ile645Met) n.2187T>G c.2088T>G (p.Ile696Met) c.993T>G (p.Ile331Met) c.582T>G (p.Ile194Met) n.2105T>G | |
| 5 | g.13901324A>G | CA443536720 | DNAH5 | c.1980T>C (p.Ile660=) c.1935T>C (p.Ile645=) n.2187T>C c.2088T>C (p.Ile696=) c.993T>C (p.Ile331=) c.582T>C (p.Ile194=) n.2105T>C | |
| 5 | g.13901324A>T | CA443536721 | DNAH5 | c.1980T>A (p.Ile660=) c.1935T>A (p.Ile645=) n.2187T>A c.2088T>A (p.Ile696=) c.993T>A (p.Ile331=) c.582T>A (p.Ile194=) n.2105T>A | |
| 5 | g.13901325A>C | CA359205170 | DNAH5 | c.1979T>G (p.Ile660Ser) c.1934T>G (p.Ile645Ser) n.2186T>G c.2087T>G (p.Ile696Ser) c.992T>G (p.Ile331Ser) c.581T>G (p.Ile194Ser) n.2104T>G | |
| 5 | g.13901325A>G | CA359205172 | DNAH5 | c.1979T>C (p.Ile660Thr) c.1934T>C (p.Ile645Thr) n.2186T>C c.2087T>C (p.Ile696Thr) c.992T>C (p.Ile331Thr) c.581T>C (p.Ile194Thr) n.2104T>C | |
| 5 | g.13901325A>T | CA359205175 | DNAH5 | c.1979T>A (p.Ile660Asn) c.1934T>A (p.Ile645Asn) n.2186T>A c.2087T>A (p.Ile696Asn) c.992T>A (p.Ile331Asn) c.581T>A (p.Ile194Asn) n.2104T>A | |
| 5 | g.13901326T>A | CA359205178 | DNAH5 | c.1978A>T (p.Ile660Phe) c.1933A>T (p.Ile645Phe) n.2185A>T c.2086A>T (p.Ile696Phe) c.991A>T (p.Ile331Phe) c.580A>T (p.Ile194Phe) n.2103A>T | |
| 5 | g.13901326T>C | CA359205179 | DNAH5 | c.1978A>G (p.Ile660Val) c.1933A>G (p.Ile645Val) n.2185A>G c.2086A>G (p.Ile696Val) c.991A>G (p.Ile331Val) c.580A>G (p.Ile194Val) n.2103A>G | gnomAD v4 |
| 5 | g.13901326T>G | CA3204704 | DNAH5 | c.1978A>C (p.Ile660Leu) c.1933A>C (p.Ile645Leu) n.2185A>C c.2086A>C (p.Ile696Leu) c.991A>C (p.Ile331Leu) c.580A>C (p.Ile194Leu) n.2103A>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13901326T= | CA1528490410 | DNAH5 | c.1978A= (p.Ile660=) c.1933A= (p.Ile645=) n.2185A= c.2086A= (p.Ile696=) c.991A= (p.Ile331=) c.580A= (p.Ile194=) n.2103A= | |
| 5 | g.13901327T>A | CA443536722 | DNAH5 | c.1977A>T (p.Ile659=) c.1932A>T (p.Ile644=) n.2184A>T c.2085A>T (p.Ile695=) c.990A>T (p.Ile330=) c.579A>T (p.Ile193=) n.2102A>T | |
| 5 | g.13901327T>C | CA359205186 | DNAH5 | c.1977A>G (p.Ile659Met) c.1932A>G (p.Ile644Met) n.2184A>G c.2085A>G (p.Ile695Met) c.990A>G (p.Ile330Met) c.579A>G (p.Ile193Met) n.2102A>G | COSMIC |
| 5 | g.13901327T>G | CA443536723 | DNAH5 | c.1977A>C (p.Ile659=) c.1932A>C (p.Ile644=) n.2184A>C c.2085A>C (p.Ile695=) c.990A>C (p.Ile330=) c.579A>C (p.Ile193=) n.2102A>C | |
| 5 | g.13901328A>C | CA359205188 | DNAH5 | c.1976T>G (p.Ile659Arg) c.1931T>G (p.Ile644Arg) n.2183T>G c.2084T>G (p.Ile695Arg) c.989T>G (p.Ile330Arg) c.578T>G (p.Ile193Arg) n.2101T>G | |
| 5 | g.13901328A>G | CA359205190 | DNAH5 | c.1976T>C (p.Ile659Thr) c.1931T>C (p.Ile644Thr) n.2183T>C c.2084T>C (p.Ile695Thr) c.989T>C (p.Ile330Thr) c.578T>C (p.Ile193Thr) n.2101T>C | gnomAD v4 |
| 5 | g.13901328A>T | CA359205192 | DNAH5 | c.1976T>A (p.Ile659Lys) c.1931T>A (p.Ile644Lys) n.2183T>A c.2084T>A (p.Ile695Lys) c.989T>A (p.Ile330Lys) c.578T>A (p.Ile193Lys) n.2101T>A | |
| 5 | g.13901329T>A | CA359205196 | DNAH5 | c.1975A>T (p.Ile659Leu) c.1930A>T (p.Ile644Leu) n.2182A>T c.2083A>T (p.Ile695Leu) c.988A>T (p.Ile330Leu) c.577A>T (p.Ile193Leu) n.2100A>T | |
| 5 | g.13901329T>C | CA3204706 | DNAH5 | c.1975A>G (p.Ile659Val) c.1930A>G (p.Ile644Val) n.2182A>G c.2083A>G (p.Ile695Val) c.988A>G (p.Ile330Val) c.577A>G (p.Ile193Val) n.2100A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901329T>G | CA3204705 | DNAH5 | c.1975A>C (p.Ile659Leu) c.1930A>C (p.Ile644Leu) n.2182A>C c.2083A>C (p.Ile695Leu) c.988A>C (p.Ile330Leu) c.577A>C (p.Ile193Leu) n.2100A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13901329T= | CA1528490411 | DNAH5 | c.1975A= (p.Ile659=) c.1930A= (p.Ile644=) n.2182A= c.2083A= (p.Ile695=) c.988A= (p.Ile330=) c.577A= (p.Ile193=) n.2100A= | |
| 5 | g.13901330A= | CA1528490412 | DNAH5 | c.1974T= (p.Pro658=) c.1929T= (p.Pro643=) n.2181T= c.2082T= (p.Pro694=) c.987T= (p.Pro329=) c.576T= (p.Pro192=) n.2099T= | |
| 5 | g.13901330A>C | CA443536726 | DNAH5 | c.1974T>G (p.Pro658=) c.1929T>G (p.Pro643=) n.2181T>G c.2082T>G (p.Pro694=) c.987T>G (p.Pro329=) c.576T>G (p.Pro192=) n.2099T>G | |
| 5 | g.13901330A>G | CA443536724 | DNAH5 | c.1974T>C (p.Pro658=) c.1929T>C (p.Pro643=) n.2181T>C c.2082T>C (p.Pro694=) c.987T>C (p.Pro329=) c.576T>C (p.Pro192=) n.2099T>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.13901330A>T | CA443536725 | DNAH5 | c.1974T>A (p.Pro658=) c.1929T>A (p.Pro643=) n.2181T>A c.2082T>A (p.Pro694=) c.987T>A (p.Pro329=) c.576T>A (p.Pro192=) n.2099T>A | |
| 5 | g.13901331G>A | CA359205201 | DNAH5 | c.1973C>T (p.Pro658Leu) c.1928C>T (p.Pro643Leu) n.2180C>T c.2081C>T (p.Pro694Leu) c.986C>T (p.Pro329Leu) c.575C>T (p.Pro192Leu) n.2098C>T | |
| 5 | g.13901331G>C | CA359205204 | DNAH5 | c.1973C>G (p.Pro658Arg) c.1928C>G (p.Pro643Arg) n.2180C>G c.2081C>G (p.Pro694Arg) c.986C>G (p.Pro329Arg) c.575C>G (p.Pro192Arg) n.2098C>G | |
| 5 | g.13901331G>T | CA359205202 | DNAH5 | c.1973C>A (p.Pro658His) c.1928C>A (p.Pro643His) n.2180C>A c.2081C>A (p.Pro694His) c.986C>A (p.Pro329His) c.575C>A (p.Pro192His) n.2098C>A | |
| 5 | g.13901332G>A | CA359205206 | DNAH5 | c.1972C>T (p.Pro658Ser) c.1927C>T (p.Pro643Ser) n.2179C>T c.2080C>T (p.Pro694Ser) c.985C>T (p.Pro329Ser) c.574C>T (p.Pro192Ser) n.2097C>T | dbSNP |
| 5 | g.13901332G>C | CA359205211 | DNAH5 | c.1972C>G (p.Pro658Ala) c.1927C>G (p.Pro643Ala) n.2179C>G c.2080C>G (p.Pro694Ala) c.985C>G (p.Pro329Ala) c.574C>G (p.Pro192Ala) n.2097C>G | gnomAD v4 |
| 5 | g.13901332G= | CA1528490413 | DNAH5 | c.1972C= (p.Pro658=) c.1927C= (p.Pro643=) n.2179C= c.2080C= (p.Pro694=) c.985C= (p.Pro329=) c.574C= (p.Pro192=) n.2097C= | |
| 5 | g.13901332G>T | CA359205208 | DNAH5 | c.1972C>A (p.Pro658Thr) c.1927C>A (p.Pro643Thr) n.2179C>A c.2080C>A (p.Pro694Thr) c.985C>A (p.Pro329Thr) c.574C>A (p.Pro192Thr) n.2097C>A | |
| 5 | g.13901333T>A | CA359205214 | DNAH5 | c.1971A>T (p.Lys657Asn) c.1926A>T (p.Lys642Asn) n.2178A>T c.2079A>T (p.Lys693Asn) c.984A>T (p.Lys328Asn) c.573A>T (p.Lys191Asn) n.2096A>T | gnomAD v4 |
| 5 | g.13901333T>C | CA443536727 | DNAH5 | c.1971A>G (p.Lys657=) c.1926A>G (p.Lys642=) n.2178A>G c.2079A>G (p.Lys693=) c.984A>G (p.Lys328=) c.573A>G (p.Lys191=) n.2096A>G | COSMIC |
| 5 | g.13901333T>G | CA359205215 | DNAH5 | c.1971A>C (p.Lys657Asn) c.1926A>C (p.Lys642Asn) n.2178A>C c.2079A>C (p.Lys693Asn) c.984A>C (p.Lys328Asn) c.573A>C (p.Lys191Asn) n.2096A>C | |
| 5 | g.13901334T>A | CA359205218 | DNAH5 | c.1970A>T (p.Lys657Ile) c.1925A>T (p.Lys642Ile) n.2177A>T c.2078A>T (p.Lys693Ile) c.983A>T (p.Lys328Ile) c.572A>T (p.Lys191Ile) n.2095A>T | |
| 5 | g.13901334T>C | CA359205226 | DNAH5 | c.1970A>G (p.Lys657Arg) c.1925A>G (p.Lys642Arg) n.2177A>G c.2078A>G (p.Lys693Arg) c.983A>G (p.Lys328Arg) c.572A>G (p.Lys191Arg) n.2095A>G | gnomAD v4 |
| 5 | g.13901334T>G | CA359205223 | DNAH5 | c.1970A>C (p.Lys657Thr) c.1925A>C (p.Lys642Thr) n.2177A>C c.2078A>C (p.Lys693Thr) c.983A>C (p.Lys328Thr) c.572A>C (p.Lys191Thr) n.2095A>C | |
| 5 | g.13901335T>A | CA359205229 | DNAH5 | c.1969A>T (p.Lys657Ter) c.1924A>T (p.Lys642Ter) n.2176A>T c.2077A>T (p.Lys693Ter) c.982A>T (p.Lys328Ter) c.571A>T (p.Lys191Ter) n.2094A>T | |
| 5 | g.13901335T>C | CA113944161 | DNAH5 | c.1969A>G (p.Lys657Glu) c.1924A>G (p.Lys642Glu) n.2176A>G c.2077A>G (p.Lys693Glu) c.982A>G (p.Lys328Glu) c.571A>G (p.Lys191Glu) n.2094A>G | dbSNP |
| 5 | g.13901335T>G | CA359205234 | DNAH5 | c.1969A>C (p.Lys657Gln) c.1924A>C (p.Lys642Gln) n.2176A>C c.2077A>C (p.Lys693Gln) c.982A>C (p.Lys328Gln) c.571A>C (p.Lys191Gln) n.2094A>C | |
| 5 | g.13901335T= | CA1528490414 | DNAH5 | c.1969A= (p.Lys657=) c.1924A= (p.Lys642=) n.2176A= c.2077A= (p.Lys693=) c.982A= (p.Lys328=) c.571A= (p.Lys191=) n.2094A= | |
| 5 | g.13901336G>A | CA443536728 | DNAH5 | c.1968C>T (p.Ala656=) c.1923C>T (p.Ala641=) n.2175C>T c.2076C>T (p.Ala692=) c.981C>T (p.Ala327=) c.570C>T (p.Ala190=) n.2093C>T | |
| 5 | g.13901336G>C | CA443536729 | DNAH5 | c.1968C>G (p.Ala656=) c.1923C>G (p.Ala641=) n.2175C>G c.2076C>G (p.Ala692=) c.981C>G (p.Ala327=) c.570C>G (p.Ala190=) n.2093C>G | |
| 5 | g.13901336G>T | CA443536730 | DNAH5 | c.1968C>A (p.Ala656=) c.1923C>A (p.Ala641=) n.2175C>A c.2076C>A (p.Ala692=) c.981C>A (p.Ala327=) c.570C>A (p.Ala190=) n.2093C>A | |
| 5 | g.13901337G>A | CA3204708 | DNAH5 | c.1967C>T (p.Ala656Val) c.1922C>T (p.Ala641Val) n.2174C>T c.2075C>T (p.Ala692Val) c.980C>T (p.Ala327Val) c.569C>T (p.Ala190Val) n.2092C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901337G>C | CA359205240 | DNAH5 | c.1967C>G (p.Ala656Gly) c.1922C>G (p.Ala641Gly) n.2174C>G c.2075C>G (p.Ala692Gly) c.980C>G (p.Ala327Gly) c.569C>G (p.Ala190Gly) n.2092C>G | gnomAD v4 |
| 5 | g.13901337G= | CA1528490415 | DNAH5 | c.1967C= (p.Ala656=) c.1922C= (p.Ala641=) n.2174C= c.2075C= (p.Ala692=) c.980C= (p.Ala327=) c.569C= (p.Ala190=) n.2092C= | |
| 5 | g.13901337G>T | CA3204707 | DNAH5 | c.1967C>A (p.Ala656Asp) c.1922C>A (p.Ala641Asp) n.2174C>A c.2075C>A (p.Ala692Asp) c.980C>A (p.Ala327Asp) c.569C>A (p.Ala190Asp) n.2092C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13901338C>A | CA3204709 | DNAH5 | c.1966G>T (p.Ala656Ser) c.1921G>T (p.Ala641Ser) n.2173G>T c.2074G>T (p.Ala692Ser) c.979G>T (p.Ala327Ser) c.568G>T (p.Ala190Ser) n.2091G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13901338C= | CA1528490416 | DNAH5 | c.1966G= (p.Ala656=) c.1921G= (p.Ala641=) n.2173G= c.2074G= (p.Ala692=) c.979G= (p.Ala327=) c.568G= (p.Ala190=) n.2091G= | |
| 5 | g.13901338C>G | CA359205246 | DNAH5 | c.1966G>C (p.Ala656Pro) c.1921G>C (p.Ala641Pro) n.2173G>C c.2074G>C (p.Ala692Pro) c.979G>C (p.Ala327Pro) c.568G>C (p.Ala190Pro) n.2091G>C | gnomAD v4 |
| 5 | g.13901338C>T | CA113944177 | DNAH5 | c.1966G>A (p.Ala656Thr) c.1921G>A (p.Ala641Thr) n.2173G>A c.2074G>A (p.Ala692Thr) c.979G>A (p.Ala327Thr) c.568G>A (p.Ala190Thr) n.2091G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901339T>A | CA359205249 | DNAH5 | c.1965A>T (p.Glu655Asp) c.1920A>T (p.Glu640Asp) n.2172A>T c.2073A>T (p.Glu691Asp) c.978A>T (p.Glu326Asp) c.567A>T (p.Glu189Asp) n.2090A>T | |
| 5 | g.13901339T>C | CA443536731 | DNAH5 | c.1965A>G (p.Glu655=) c.1920A>G (p.Glu640=) n.2172A>G c.2073A>G (p.Glu691=) c.978A>G (p.Glu326=) c.567A>G (p.Glu189=) n.2090A>G | |
| 5 | g.13901339T>G | CA359205252 | DNAH5 | c.1965A>C (p.Glu655Asp) c.1920A>C (p.Glu640Asp) n.2172A>C c.2073A>C (p.Glu691Asp) c.978A>C (p.Glu326Asp) c.567A>C (p.Glu189Asp) n.2090A>C | |
| 5 | g.13901340T>A | CA359205258 | DNAH5 | c.1964A>T (p.Glu655Val) c.1919A>T (p.Glu640Val) n.2171A>T c.2072A>T (p.Glu691Val) c.977A>T (p.Glu326Val) c.566A>T (p.Glu189Val) n.2089A>T | |
| 5 | g.13901340T>C | CA359205253 | DNAH5 | c.1964A>G (p.Glu655Gly) c.1919A>G (p.Glu640Gly) n.2171A>G c.2072A>G (p.Glu691Gly) c.977A>G (p.Glu326Gly) c.566A>G (p.Glu189Gly) n.2089A>G | |
| 5 | g.13901340T>G | CA359205255 | DNAH5 | c.1964A>C (p.Glu655Ala) c.1919A>C (p.Glu640Ala) n.2171A>C c.2072A>C (p.Glu691Ala) c.977A>C (p.Glu326Ala) c.566A>C (p.Glu189Ala) n.2089A>C | |
| 5 | g.13901341C>A | CA359205259 | DNAH5 | c.1963G>T (p.Glu655Ter) c.1918G>T (p.Glu640Ter) n.2170G>T c.2071G>T (p.Glu691Ter) c.976G>T (p.Glu326Ter) c.565G>T (p.Glu189Ter) n.2088G>T | dbSNP gnomAD v4 |
| 5 | g.13901341C= | CA1528490417 | DNAH5 | c.1963G= (p.Glu655=) c.1918G= (p.Glu640=) n.2170G= c.2071G= (p.Glu691=) c.976G= (p.Glu326=) c.565G= (p.Glu189=) n.2088G= | |
| 5 | g.13901341C>G | CA359205262 | DNAH5 | c.1963G>C (p.Glu655Gln) c.1918G>C (p.Glu640Gln) n.2170G>C c.2071G>C (p.Glu691Gln) c.976G>C (p.Glu326Gln) c.565G>C (p.Glu189Gln) n.2088G>C | |
| 5 | g.13901341C>T | CA359205266 | DNAH5 | c.1963G>A (p.Glu655Lys) c.1918G>A (p.Glu640Lys) n.2170G>A c.2071G>A (p.Glu691Lys) c.976G>A (p.Glu326Lys) c.565G>A (p.Glu189Lys) n.2088G>A | |
| 5 | g.13901342T>A | CA443536732 | DNAH5 | c.1962A>T (p.Ala654=) c.1917A>T (p.Ala639=) n.2169A>T c.2070A>T (p.Ala690=) c.975A>T (p.Ala325=) c.564A>T (p.Ala188=) n.2087A>T | |
| 5 | g.13901342T>C | CA443536733 | DNAH5 | c.1962A>G (p.Ala654=) c.1917A>G (p.Ala639=) n.2169A>G c.2070A>G (p.Ala690=) c.975A>G (p.Ala325=) c.564A>G (p.Ala188=) n.2087A>G | dbSNP |
| 5 | g.13901342T>G | CA443536734 | DNAH5 | c.1962A>C (p.Ala654=) c.1917A>C (p.Ala639=) n.2169A>C c.2070A>C (p.Ala690=) c.975A>C (p.Ala325=) c.564A>C (p.Ala188=) n.2087A>C | |
| 5 | g.13901342T= | CA1528490418 | DNAH5 | c.1962A= (p.Ala654=) c.1917A= (p.Ala639=) n.2169A= c.2070A= (p.Ala690=) c.975A= (p.Ala325=) c.564A= (p.Ala188=) n.2087A= | |
| 5 | g.13901343G>A | CA359205268 | DNAH5 | c.1961C>T (p.Ala654Val) c.1916C>T (p.Ala639Val) n.2168C>T c.2069C>T (p.Ala690Val) c.974C>T (p.Ala325Val) c.563C>T (p.Ala188Val) n.2086C>T | |
| 5 | g.13901343G>C | CA359205271 | DNAH5 | c.1961C>G (p.Ala654Gly) c.1916C>G (p.Ala639Gly) n.2168C>G c.2069C>G (p.Ala690Gly) c.974C>G (p.Ala325Gly) c.563C>G (p.Ala188Gly) n.2086C>G | |
| 5 | g.13901343G>T | CA359205273 | DNAH5 | c.1961C>A (p.Ala654Glu) c.1916C>A (p.Ala639Glu) n.2168C>A c.2069C>A (p.Ala690Glu) c.974C>A (p.Ala325Glu) c.563C>A (p.Ala188Glu) n.2086C>A | |
| 5 | g.13901344C>A | CA359205275 | DNAH5 | c.1960G>T (p.Ala654Ser) c.1915G>T (p.Ala639Ser) n.2167G>T c.2068G>T (p.Ala690Ser) c.973G>T (p.Ala325Ser) c.562G>T (p.Ala188Ser) n.2085G>T | gnomAD v4 |
| 5 | g.13901344C>G | CA359205278 | DNAH5 | c.1960G>C (p.Ala654Pro) c.1915G>C (p.Ala639Pro) n.2167G>C c.2068G>C (p.Ala690Pro) c.973G>C (p.Ala325Pro) c.562G>C (p.Ala188Pro) n.2085G>C | gnomAD v4 |
| 5 | g.13901344C>T | CA359205281 | DNAH5 | c.1960G>A (p.Ala654Thr) c.1915G>A (p.Ala639Thr) n.2167G>A c.2068G>A (p.Ala690Thr) c.973G>A (p.Ala325Thr) c.562G>A (p.Ala188Thr) n.2085G>A | gnomAD v4 |
| 5 | g.13901345C>A | CA443536735 | DNAH5 | c.1959G>T (p.Thr653=) c.1914G>T (p.Thr638=) n.2166G>T c.2067G>T (p.Thr689=) c.972G>T (p.Thr324=) c.561G>T (p.Thr187=) n.2084G>T | |
| 5 | g.13901345C= | CA1528490419 | DNAH5 | c.1959G= (p.Thr653=) c.1914G= (p.Thr638=) n.2166G= c.2067G= (p.Thr689=) c.972G= (p.Thr324=) c.561G= (p.Thr187=) n.2084G= | |
| 5 | g.13901345C>G | CA443536736 | DNAH5 | c.1959G>C (p.Thr653=) c.1914G>C (p.Thr638=) n.2166G>C c.2067G>C (p.Thr689=) c.972G>C (p.Thr324=) c.561G>C (p.Thr187=) n.2084G>C | |
| 5 | g.13901345C>T | CA3204710 | DNAH5 | c.1959G>A (p.Thr653=) c.1914G>A (p.Thr638=) n.2166G>A c.2067G>A (p.Thr689=) c.972G>A (p.Thr324=) c.561G>A (p.Thr187=) n.2084G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901346G>A | CA3204711 | DNAH5 | c.1958C>T (p.Thr653Met) c.1913C>T (p.Thr638Met) n.2165C>T c.2066C>T (p.Thr689Met) c.971C>T (p.Thr324Met) c.560C>T (p.Thr187Met) n.2083C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901346G>C | CA359205288 | DNAH5 | c.1958C>G (p.Thr653Arg) c.1913C>G (p.Thr638Arg) n.2165C>G c.2066C>G (p.Thr689Arg) c.971C>G (p.Thr324Arg) c.560C>G (p.Thr187Arg) n.2083C>G | |
| 5 | g.13901346G= | CA1528490420 | DNAH5 | c.1958C= (p.Thr653=) c.1913C= (p.Thr638=) n.2165C= c.2066C= (p.Thr689=) c.971C= (p.Thr324=) c.560C= (p.Thr187=) n.2083C= | |
| 5 | g.13901346G>T | CA3204712 | DNAH5 | c.1958C>A (p.Thr653Lys) c.1913C>A (p.Thr638Lys) n.2165C>A c.2066C>A (p.Thr689Lys) c.971C>A (p.Thr324Lys) c.560C>A (p.Thr187Lys) n.2083C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13901347T>A | CA359205290 | DNAH5 | c.1957A>T (p.Thr653Ser) c.1912A>T (p.Thr638Ser) n.2164A>T c.2065A>T (p.Thr689Ser) c.970A>T (p.Thr324Ser) c.559A>T (p.Thr187Ser) n.2082A>T | |
| 5 | g.13901347T>C | CA359205291 | DNAH5 | c.1957A>G (p.Thr653Ala) c.1912A>G (p.Thr638Ala) n.2164A>G c.2065A>G (p.Thr689Ala) c.970A>G (p.Thr324Ala) c.559A>G (p.Thr187Ala) n.2082A>G | |
| 5 | g.13901347T>G | CA359205293 | DNAH5 | c.1957A>C (p.Thr653Pro) c.1912A>C (p.Thr638Pro) n.2164A>C c.2065A>C (p.Thr689Pro) c.970A>C (p.Thr324Pro) c.559A>C (p.Thr187Pro) n.2082A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901347T= | CA1528490421 | DNAH5 | c.1957A= (p.Thr653=) c.1912A= (p.Thr638=) n.2164A= c.2065A= (p.Thr689=) c.970A= (p.Thr324=) c.559A= (p.Thr187=) n.2082A= | |
| 5 | g.13901348G>A | CA443536737 | DNAH5 | c.1956C>T (p.Ser652=) c.1911C>T (p.Ser637=) n.2163C>T c.2064C>T (p.Ser688=) c.969C>T (p.Ser323=) c.558C>T (p.Ser186=) n.2081C>T | dbSNP |
| 5 | g.13901348G>C | CA359205296 | DNAH5 | c.1956C>G (p.Ser652Arg) c.1911C>G (p.Ser637Arg) n.2163C>G c.2064C>G (p.Ser688Arg) c.969C>G (p.Ser323Arg) c.558C>G (p.Ser186Arg) n.2081C>G | |
| 5 | g.13901348G= | CA1528490422 | DNAH5 | c.1956C= (p.Ser652=) c.1911C= (p.Ser637=) n.2163C= c.2064C= (p.Ser688=) c.969C= (p.Ser323=) c.558C= (p.Ser186=) n.2081C= | |
| 5 | g.13901348G>T | CA359205300 | DNAH5 | c.1956C>A (p.Ser652Arg) c.1911C>A (p.Ser637Arg) n.2163C>A c.2064C>A (p.Ser688Arg) c.969C>A (p.Ser323Arg) c.558C>A (p.Ser186Arg) n.2081C>A | |
| 5 | g.13901349C>A | CA359205302 | DNAH5 | c.1955G>T (p.Ser652Ile) c.1910G>T (p.Ser637Ile) n.2162G>T c.2063G>T (p.Ser688Ile) c.968G>T (p.Ser323Ile) c.557G>T (p.Ser186Ile) n.2080G>T | |
| 5 | g.13901349C= | CA1528490423 | DNAH5 | c.1955G= (p.Ser652=) c.1910G= (p.Ser637=) n.2162G= c.2063G= (p.Ser688=) c.968G= (p.Ser323=) c.557G= (p.Ser186=) n.2080G= | |
| 5 | g.13901349C>G | CA359205303 | DNAH5 | c.1955G>C (p.Ser652Thr) c.1910G>C (p.Ser637Thr) n.2162G>C c.2063G>C (p.Ser688Thr) c.968G>C (p.Ser323Thr) c.557G>C (p.Ser186Thr) n.2080G>C | |
| 5 | g.13901349C>T | CA240289 | DNAH5 | c.1955G>A (p.Ser652Asn) c.1910G>A (p.Ser637Asn) n.2162G>A c.2063G>A (p.Ser688Asn) c.968G>A (p.Ser323Asn) c.557G>A (p.Ser186Asn) n.2080G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901350T>A | CA359205305 | DNAH5 | c.1954A>T (p.Ser652Cys) c.1909A>T (p.Ser637Cys) n.2161A>T c.2062A>T (p.Ser688Cys) c.967A>T (p.Ser323Cys) c.556A>T (p.Ser186Cys) n.2079A>T | |
| 5 | g.13901350T>C | CA359205307 | DNAH5 | c.1954A>G (p.Ser652Gly) c.1909A>G (p.Ser637Gly) n.2161A>G c.2062A>G (p.Ser688Gly) c.967A>G (p.Ser323Gly) c.556A>G (p.Ser186Gly) n.2079A>G | |
| 5 | g.13901350T>G | CA359205308 | DNAH5 | c.1954A>C (p.Ser652Arg) c.1909A>C (p.Ser637Arg) n.2161A>C c.2062A>C (p.Ser688Arg) c.967A>C (p.Ser323Arg) c.556A>C (p.Ser186Arg) n.2079A>C | gnomAD v4 |
| 5 | g.13901351T>A | CA443536740 | DNAH5 | c.1953A>T (p.Leu651=) c.1908A>T (p.Leu636=) n.2160A>T c.2061A>T (p.Leu687=) c.966A>T (p.Leu322=) c.555A>T (p.Leu185=) n.2078A>T | |
| 5 | g.13901351T>C | CA443536739 | DNAH5 | c.1953A>G (p.Leu651=) c.1908A>G (p.Leu636=) n.2160A>G c.2061A>G (p.Leu687=) c.966A>G (p.Leu322=) c.555A>G (p.Leu185=) n.2078A>G | |
| 5 | g.13901351T>G | CA443536738 | DNAH5 | c.1953A>C (p.Leu651=) c.1908A>C (p.Leu636=) n.2160A>C c.2061A>C (p.Leu687=) c.966A>C (p.Leu322=) c.555A>C (p.Leu185=) n.2078A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901351T= | CA1528490424 | DNAH5 | c.1953A= (p.Leu651=) c.1908A= (p.Leu636=) n.2160A= c.2061A= (p.Leu687=) c.966A= (p.Leu322=) c.555A= (p.Leu185=) n.2078A= | |
| 5 | g.13901352A>C | CA359205310 | DNAH5 | c.1952T>G (p.Leu651Arg) c.1907T>G (p.Leu636Arg) n.2159T>G c.2060T>G (p.Leu687Arg) c.965T>G (p.Leu322Arg) c.554T>G (p.Leu185Arg) n.2077T>G | |
| 5 | g.13901352A>G | CA359205313 | DNAH5 | c.1952T>C (p.Leu651Pro) c.1907T>C (p.Leu636Pro) n.2159T>C c.2060T>C (p.Leu687Pro) c.965T>C (p.Leu322Pro) c.554T>C (p.Leu185Pro) n.2077T>C | COSMIC |
| 5 | g.13901352A>T | CA359205314 | DNAH5 | c.1952T>A (p.Leu651Gln) c.1907T>A (p.Leu636Gln) n.2159T>A c.2060T>A (p.Leu687Gln) c.965T>A (p.Leu322Gln) c.554T>A (p.Leu185Gln) n.2077T>A | |
| 5 | g.13901353G>A | CA443536741 | DNAH5 | c.1951C>T (p.Leu651=) c.1906C>T (p.Leu636=) n.2158C>T c.2059C>T (p.Leu687=) c.964C>T (p.Leu322=) c.553C>T (p.Leu185=) n.2076C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901353G>C | CA359205317 | DNAH5 | c.1951C>G (p.Leu651Val) c.1906C>G (p.Leu636Val) n.2158C>G c.2059C>G (p.Leu687Val) c.964C>G (p.Leu322Val) c.553C>G (p.Leu185Val) n.2076C>G | |
| 5 | g.13901353G= | CA1528490425 | DNAH5 | c.1951C= (p.Leu651=) c.1906C= (p.Leu636=) n.2158C= c.2059C= (p.Leu687=) c.964C= (p.Leu322=) c.553C= (p.Leu185=) n.2076C= | |
| 5 | g.13901353G>T | CA359205318 | DNAH5 | c.1951C>A (p.Leu651Ile) c.1906C>A (p.Leu636Ile) n.2158C>A c.2059C>A (p.Leu687Ile) c.964C>A (p.Leu322Ile) c.553C>A (p.Leu185Ile) n.2076C>A | |
| 5 | g.13901354C>A | CA443536742 | DNAH5 | c.1950G>T (p.Val650=) c.1905G>T (p.Val635=) n.2157G>T c.2058G>T (p.Val686=) c.963G>T (p.Val321=) c.552G>T (p.Val184=) n.2075G>T | |
| 5 | g.13901354C>G | CA443536743 | DNAH5 | c.1950G>C (p.Val650=) c.1905G>C (p.Val635=) n.2157G>C c.2058G>C (p.Val686=) c.963G>C (p.Val321=) c.552G>C (p.Val184=) n.2075G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.13901354C>T | CA443536744 | DNAH5 | c.1950G>A (p.Val650=) c.1905G>A (p.Val635=) n.2157G>A c.2058G>A (p.Val686=) c.963G>A (p.Val321=) c.552G>A (p.Val184=) n.2075G>A | |
| 5 | g.13901355A>C | CA359205320 | DNAH5 | c.1949T>G (p.Val650Gly) c.1904T>G (p.Val635Gly) n.2156T>G c.2057T>G (p.Val686Gly) c.962T>G (p.Val321Gly) c.551T>G (p.Val184Gly) n.2074T>G | |
| 5 | g.13901355A>G | CA359205321 | DNAH5 | c.1949T>C (p.Val650Ala) c.1904T>C (p.Val635Ala) n.2156T>C c.2057T>C (p.Val686Ala) c.962T>C (p.Val321Ala) c.551T>C (p.Val184Ala) n.2074T>C | |
| 5 | g.13901355A>T | CA359205322 | DNAH5 | c.1949T>A (p.Val650Glu) c.1904T>A (p.Val635Glu) n.2156T>A c.2057T>A (p.Val686Glu) c.962T>A (p.Val321Glu) c.551T>A (p.Val184Glu) n.2074T>A | |
| 5 | g.13901356C>A | CA359205323 | DNAH5 | c.1948G>T (p.Val650Leu) c.1903G>T (p.Val635Leu) n.2155G>T c.2056G>T (p.Val686Leu) c.961G>T (p.Val321Leu) c.550G>T (p.Val184Leu) n.2073G>T | |
| 5 | g.13901356C= | CA1528490426 | DNAH5 | c.1948G= (p.Val650=) c.1903G= (p.Val635=) n.2155G= c.2056G= (p.Val686=) c.961G= (p.Val321=) c.550G= (p.Val184=) n.2073G= | |
| 5 | g.13901356C>G | CA359205324 | DNAH5 | c.1948G>C (p.Val650Leu) c.1903G>C (p.Val635Leu) n.2155G>C c.2056G>C (p.Val686Leu) c.961G>C (p.Val321Leu) c.550G>C (p.Val184Leu) n.2073G>C | |
| 5 | g.13901356C>T | CA3204713 | DNAH5 | c.1948G>A (p.Val650Met) c.1903G>A (p.Val635Met) n.2155G>A c.2056G>A (p.Val686Met) c.961G>A (p.Val321Met) c.550G>A (p.Val184Met) n.2073G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13901357A>C | CA443536745 | DNAH5 | c.1947T>G (p.Ala649=) c.1902T>G (p.Ala634=) n.2154T>G c.2055T>G (p.Ala685=) c.960T>G (p.Ala320=) c.549T>G (p.Ala183=) n.2072T>G | |
| 5 | g.13901357A>G | CA443536747 | DNAH5 | c.1947T>C (p.Ala649=) c.1902T>C (p.Ala634=) n.2154T>C c.2055T>C (p.Ala685=) c.960T>C (p.Ala320=) c.549T>C (p.Ala183=) n.2072T>C | ClinVar gnomAD v4 |
| 5 | g.13901357A>T | CA443536746 | DNAH5 | c.1947T>A (p.Ala649=) c.1902T>A (p.Ala634=) n.2154T>A c.2055T>A (p.Ala685=) c.960T>A (p.Ala320=) c.549T>A (p.Ala183=) n.2072T>A | |
| 5 | g.13901358G>A | CA359205328 | DNAH5 | c.1946C>T (p.Ala649Val) c.1901C>T (p.Ala634Val) n.2153C>T c.2054C>T (p.Ala685Val) c.959C>T (p.Ala320Val) c.548C>T (p.Ala183Val) n.2071C>T | COSMIC |
| 5 | g.13901358G>C | CA359205329 | DNAH5 | c.1946C>G (p.Ala649Gly) c.1901C>G (p.Ala634Gly) n.2153C>G c.2054C>G (p.Ala685Gly) c.959C>G (p.Ala320Gly) c.548C>G (p.Ala183Gly) n.2071C>G | dbSNP |
| 5 | g.13901358G= | CA1528490427 | DNAH5 | c.1946C= (p.Ala649=) c.1901C= (p.Ala634=) n.2153C= c.2054C= (p.Ala685=) c.959C= (p.Ala320=) c.548C= (p.Ala183=) n.2071C= | |
| 5 | g.13901358G>T | CA3204714 | DNAH5 | c.1946C>A (p.Ala649Asp) c.1901C>A (p.Ala634Asp) n.2153C>A c.2054C>A (p.Ala685Asp) c.959C>A (p.Ala320Asp) c.548C>A (p.Ala183Asp) n.2071C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13901359C>A | CA359205333 | DNAH5 | c.1945G>T (p.Ala649Ser) c.1900G>T (p.Ala634Ser) n.2152G>T c.2053G>T (p.Ala685Ser) c.958G>T (p.Ala320Ser) c.547G>T (p.Ala183Ser) n.2070G>T | |
| 5 | g.13901359C>G | CA359205335 | DNAH5 | c.1945G>C (p.Ala649Pro) c.1900G>C (p.Ala634Pro) n.2152G>C c.2053G>C (p.Ala685Pro) c.958G>C (p.Ala320Pro) c.547G>C (p.Ala183Pro) n.2070G>C | |
| 5 | g.13901359C>T | CA359205337 | DNAH5 | c.1945G>A (p.Ala649Thr) c.1900G>A (p.Ala634Thr) n.2152G>A c.2053G>A (p.Ala685Thr) c.958G>A (p.Ala320Thr) c.547G>A (p.Ala183Thr) n.2070G>A | gnomAD v4 |
| 5 | g.13901360T>A | CA443536750 | DNAH5 | c.1944A>T (p.Pro648=) c.1899A>T (p.Pro633=) n.2151A>T c.2052A>T (p.Pro684=) c.957A>T (p.Pro319=) c.546A>T (p.Pro182=) n.2069A>T | |
| 5 | g.13901360T>C | CA443536749 | DNAH5 | c.1944A>G (p.Pro648=) c.1899A>G (p.Pro633=) n.2151A>G c.2052A>G (p.Pro684=) c.957A>G (p.Pro319=) c.546A>G (p.Pro182=) n.2069A>G | ClinVar |
| 5 | g.13901360T>G | CA443536748 | DNAH5 | c.1944A>C (p.Pro648=) c.1899A>C (p.Pro633=) n.2151A>C c.2052A>C (p.Pro684=) c.957A>C (p.Pro319=) c.546A>C (p.Pro182=) n.2069A>C | |
| 5 | g.13901361G>A | CA359205342 | DNAH5 | c.1943C>T (p.Pro648Leu) c.1898C>T (p.Pro633Leu) n.2150C>T c.2051C>T (p.Pro684Leu) c.956C>T (p.Pro319Leu) c.545C>T (p.Pro182Leu) n.2068C>T | |
| 5 | g.13901361G>C | CA359205340 | DNAH5 | c.1943C>G (p.Pro648Arg) c.1898C>G (p.Pro633Arg) n.2150C>G c.2051C>G (p.Pro684Arg) c.956C>G (p.Pro319Arg) c.545C>G (p.Pro182Arg) n.2068C>G | |
| 5 | g.13901361G>T | CA359205339 | DNAH5 | c.1943C>A (p.Pro648Gln) c.1898C>A (p.Pro633Gln) n.2150C>A c.2051C>A (p.Pro684Gln) c.956C>A (p.Pro319Gln) c.545C>A (p.Pro182Gln) n.2068C>A | |
| 5 | g.13901362G>A | CA359205344 | DNAH5 | c.1942C>T (p.Pro648Ser) c.1897C>T (p.Pro633Ser) n.2149C>T c.2050C>T (p.Pro684Ser) c.955C>T (p.Pro319Ser) c.544C>T (p.Pro182Ser) n.2067C>T | |
| 5 | g.13901362G>C | CA359205346 | DNAH5 | c.1942C>G (p.Pro648Ala) c.1897C>G (p.Pro633Ala) n.2149C>G c.2050C>G (p.Pro684Ala) c.955C>G (p.Pro319Ala) c.544C>G (p.Pro182Ala) n.2067C>G | |
| 5 | g.13901362G>T | CA359205347 | DNAH5 | c.1942C>A (p.Pro648Thr) c.1897C>A (p.Pro633Thr) n.2149C>A c.2050C>A (p.Pro684Thr) c.955C>A (p.Pro319Thr) c.544C>A (p.Pro182Thr) n.2067C>A | |
| 5 | g.13901363G>A | CA443536751 | DNAH5 | c.1941C>T (p.His647=) c.1896C>T (p.His632=) n.2148C>T c.2049C>T (p.His683=) c.954C>T (p.His318=) c.543C>T (p.His181=) n.2066C>T | gnomAD v4 |
| 5 | g.13901363G>C | CA359205349 | DNAH5 | c.1941C>G (p.His647Gln) c.1896C>G (p.His632Gln) n.2148C>G c.2049C>G (p.His683Gln) c.954C>G (p.His318Gln) c.543C>G (p.His181Gln) n.2066C>G | |
| 5 | g.13901363G>T | CA359205351 | DNAH5 | c.1941C>A (p.His647Gln) c.1896C>A (p.His632Gln) n.2148C>A c.2049C>A (p.His683Gln) c.954C>A (p.His318Gln) c.543C>A (p.His181Gln) n.2066C>A | |
| 5 | g.13901364T>A | CA359205353 | DNAH5 | c.1940A>T (p.His647Leu) c.1895A>T (p.His632Leu) n.2147A>T c.2048A>T (p.His683Leu) c.953A>T (p.His318Leu) c.542A>T (p.His181Leu) n.2065A>T | dbSNP |
| 5 | g.13901364T>C | CA359205354 | DNAH5 | c.1940A>G (p.His647Arg) c.1895A>G (p.His632Arg) n.2147A>G c.2048A>G (p.His683Arg) c.953A>G (p.His318Arg) c.542A>G (p.His181Arg) n.2065A>G | |
| 5 | g.13901364T>G | CA359205356 | DNAH5 | c.1940A>C (p.His647Pro) c.1895A>C (p.His632Pro) n.2147A>C c.2048A>C (p.His683Pro) c.953A>C (p.His318Pro) c.542A>C (p.His181Pro) n.2065A>C | |
| 5 | g.13901364T= | CA1528490428 | DNAH5 | c.1940A= (p.His647=) c.1895A= (p.His632=) n.2147A= c.2048A= (p.His683=) c.953A= (p.His318=) c.542A= (p.His181=) n.2065A= | |
| 5 | g.13901365G>A | CA359205358 | DNAH5 | c.1939C>T (p.His647Tyr) c.1894C>T (p.His632Tyr) n.2146C>T c.2047C>T (p.His683Tyr) c.952C>T (p.His318Tyr) c.541C>T (p.His181Tyr) n.2064C>T | |
| 5 | g.13901365G>C | CA359205360 | DNAH5 | c.1939C>G (p.His647Asp) c.1894C>G (p.His632Asp) n.2146C>G c.2047C>G (p.His683Asp) c.952C>G (p.His318Asp) c.541C>G (p.His181Asp) n.2064C>G | |
| 5 | g.13901365G>T | CA359205362 | DNAH5 | c.1939C>A (p.His647Asn) c.1894C>A (p.His632Asn) n.2146C>A c.2047C>A (p.His683Asn) c.952C>A (p.His318Asn) c.541C>A (p.His181Asn) n.2064C>A | |
| 5 | g.13901366C>A | CA359205363 | DNAH5 | c.1938G>T (p.Gln646His) c.1893G>T (p.Gln631His) n.2145G>T c.2046G>T (p.Gln682His) c.951G>T (p.Gln317His) c.540G>T (p.Gln180His) n.2063G>T | |
| 5 | g.13901366C>G | CA359205364 | DNAH5 | c.1938G>C (p.Gln646His) c.1893G>C (p.Gln631His) n.2145G>C c.2046G>C (p.Gln682His) c.951G>C (p.Gln317His) c.540G>C (p.Gln180His) n.2063G>C | |
| 5 | g.13901366C>T | CA443536752 | DNAH5 | c.1938G>A (p.Gln646=) c.1893G>A (p.Gln631=) n.2145G>A c.2046G>A (p.Gln682=) c.951G>A (p.Gln317=) c.540G>A (p.Gln180=) n.2063G>A | |
| 5 | g.13901367T>A | CA359205369 | DNAH5 | c.1937A>T (p.Gln646Leu) c.1892A>T (p.Gln631Leu) n.2144A>T c.2045A>T (p.Gln682Leu) c.950A>T (p.Gln317Leu) c.539A>T (p.Gln180Leu) n.2062A>T | |
| 5 | g.13901367T>C | CA359205367 | DNAH5 | c.1937A>G (p.Gln646Arg) c.1892A>G (p.Gln631Arg) n.2144A>G c.2045A>G (p.Gln682Arg) c.950A>G (p.Gln317Arg) c.539A>G (p.Gln180Arg) n.2062A>G | |
| 5 | g.13901367T>G | CA359205365 | DNAH5 | c.1937A>C (p.Gln646Pro) c.1892A>C (p.Gln631Pro) n.2144A>C c.2045A>C (p.Gln682Pro) c.950A>C (p.Gln317Pro) c.539A>C (p.Gln180Pro) n.2062A>C | |
| 5 | g.13901368G>A | CA359205371 | DNAH5 | c.1936C>T (p.Gln646Ter) c.1891C>T (p.Gln631Ter) n.2143C>T c.2044C>T (p.Gln682Ter) c.949C>T (p.Gln317Ter) c.538C>T (p.Gln180Ter) n.2061C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901368G>C | CA359205372 | DNAH5 | c.1936C>G (p.Gln646Glu) c.1891C>G (p.Gln631Glu) n.2143C>G c.2044C>G (p.Gln682Glu) c.949C>G (p.Gln317Glu) c.538C>G (p.Gln180Glu) n.2061C>G | |
| 5 | g.13901368G= | CA1528490429 | DNAH5 | c.1936C= (p.Gln646=) c.1891C= (p.Gln631=) n.2143C= c.2044C= (p.Gln682=) c.949C= (p.Gln317=) c.538C= (p.Gln180=) n.2061C= | |
| 5 | g.13901368G>T | CA359205373 | DNAH5 | c.1936C>A (p.Gln646Lys) c.1891C>A (p.Gln631Lys) n.2143C>A c.2044C>A (p.Gln682Lys) c.949C>A (p.Gln317Lys) c.538C>A (p.Gln180Lys) n.2061C>A | gnomAD v4 |
| 5 | g.13901369C>A | CA359205376 | DNAH5 | c.1935G>T (p.Gln645His) c.1890G>T (p.Gln630His) n.2142G>T c.2043G>T (p.Gln681His) c.948G>T (p.Gln316His) c.537G>T (p.Gln179His) n.2060G>T | dbSNP |
| 5 | g.13901369C>G | CA359205380 | DNAH5 | c.1935G>C (p.Gln645His) c.1890G>C (p.Gln630His) n.2142G>C c.2043G>C (p.Gln681His) c.948G>C (p.Gln316His) c.537G>C (p.Gln179His) n.2060G>C | |
| 5 | g.13901369C>T | CA443536753 | DNAH5 | c.1935G>A (p.Gln645=) c.1890G>A (p.Gln630=) n.2142G>A c.2043G>A (p.Gln681=) c.948G>A (p.Gln316=) c.537G>A (p.Gln179=) n.2060G>A | |
| 5 | g.13901370T>A | CA359205382 | DNAH5 | c.1934A>T (p.Gln645Leu) c.1889A>T (p.Gln630Leu) n.2141A>T c.2042A>T (p.Gln681Leu) c.947A>T (p.Gln316Leu) c.536A>T (p.Gln179Leu) n.2059A>T | |
| 5 | g.13901370T>C | CA359205384 | DNAH5 | c.1934A>G (p.Gln645Arg) c.1889A>G (p.Gln630Arg) n.2141A>G c.2042A>G (p.Gln681Arg) c.947A>G (p.Gln316Arg) c.536A>G (p.Gln179Arg) n.2059A>G | |
| 5 | g.13901370T>G | CA359205385 | DNAH5 | c.1934A>C (p.Gln645Pro) c.1889A>C (p.Gln630Pro) n.2141A>C c.2042A>C (p.Gln681Pro) c.947A>C (p.Gln316Pro) c.536A>C (p.Gln179Pro) n.2059A>C | |
| 5 | g.13901371G>A | CA359205386 | DNAH5 | c.1933C>T (p.Gln645Ter) c.1888C>T (p.Gln630Ter) n.2140C>T c.2041C>T (p.Gln681Ter) c.946C>T (p.Gln316Ter) c.535C>T (p.Gln179Ter) n.2058C>T | ClinVar dbSNP |
| 5 | g.13901371G>C | CA359205387 | DNAH5 | c.1933C>G (p.Gln645Glu) c.1888C>G (p.Gln630Glu) n.2140C>G c.2041C>G (p.Gln681Glu) c.946C>G (p.Gln316Glu) c.535C>G (p.Gln179Glu) n.2058C>G | |
| 5 | g.13901371G>T | CA359205388 | DNAH5 | c.1933C>A (p.Gln645Lys) c.1888C>A (p.Gln630Lys) n.2140C>A c.2041C>A (p.Gln681Lys) c.946C>A (p.Gln316Lys) c.535C>A (p.Gln179Lys) n.2058C>A | |
| 5 | g.13901372dup | CA2673279622 | DNAH5 | c.1933dup (p.Gln645ProfsTer30) c.1888dup (p.Gln630ProfsTer30) n.2140dup c.2041dup (p.Gln681ProfsTer30) c.946dup (p.Gln316ProfsTer30) c.535dup (p.Gln179ProfsTer30) n.2058dup | gnomAD v4 |
| 5 | g.13901372G>A | CA443536754 | DNAH5 | c.1932C>T (p.Phe644=) c.1887C>T (p.Phe629=) n.2139C>T c.2040C>T (p.Phe680=) c.945C>T (p.Phe315=) c.534C>T (p.Phe178=) n.2057C>T | COSMIC |
| 5 | g.13901372G>C | CA359205390 | DNAH5 | c.1932C>G (p.Phe644Leu) c.1887C>G (p.Phe629Leu) n.2139C>G c.2040C>G (p.Phe680Leu) c.945C>G (p.Phe315Leu) c.534C>G (p.Phe178Leu) n.2057C>G | |
| 5 | g.13901372G>T | CA359205392 | DNAH5 | c.1932C>A (p.Phe644Leu) c.1887C>A (p.Phe629Leu) n.2139C>A c.2040C>A (p.Phe680Leu) c.945C>A (p.Phe315Leu) c.534C>A (p.Phe178Leu) n.2057C>A | |
| 5 | g.13901373A>C | CA359205396 | DNAH5 | c.1931T>G (p.Phe644Cys) c.1886T>G (p.Phe629Cys) n.2138T>G c.2039T>G (p.Phe680Cys) c.944T>G (p.Phe315Cys) c.533T>G (p.Phe178Cys) n.2056T>G | |
| 5 | g.13901373A>G | CA359205398 | DNAH5 | c.1931T>C (p.Phe644Ser) c.1886T>C (p.Phe629Ser) n.2138T>C c.2039T>C (p.Phe680Ser) c.944T>C (p.Phe315Ser) c.533T>C (p.Phe178Ser) n.2056T>C | gnomAD v4 |
| 5 | g.13901373A>T | CA359205395 | DNAH5 | c.1931T>A (p.Phe644Tyr) c.1886T>A (p.Phe629Tyr) n.2138T>A c.2039T>A (p.Phe680Tyr) c.944T>A (p.Phe315Tyr) c.533T>A (p.Phe178Tyr) n.2056T>A | |
| 5 | g.13901374A>C | CA359205400 | DNAH5 | c.1930T>G (p.Phe644Val) c.1885T>G (p.Phe629Val) n.2137T>G c.2038T>G (p.Phe680Val) c.943T>G (p.Phe315Val) c.532T>G (p.Phe178Val) n.2055T>G | |
| 5 | g.13901374A>G | CA359205401 | DNAH5 | c.1930T>C (p.Phe644Leu) c.1885T>C (p.Phe629Leu) n.2137T>C c.2038T>C (p.Phe680Leu) c.943T>C (p.Phe315Leu) c.532T>C (p.Phe178Leu) n.2055T>C | |
| 5 | g.13901374A>T | CA359205404 | DNAH5 | c.1930T>A (p.Phe644Ile) c.1885T>A (p.Phe629Ile) n.2137T>A c.2038T>A (p.Phe680Ile) c.943T>A (p.Phe315Ile) c.532T>A (p.Phe178Ile) n.2055T>A | |
| 5 | g.13901375A>C | CA443536755 | DNAH5 | c.1929T>G (p.Leu643=) c.1884T>G (p.Leu628=) n.2136T>G c.2037T>G (p.Leu679=) c.942T>G (p.Leu314=) c.531T>G (p.Leu177=) n.2054T>G | |
| 5 | g.13901375A>G | CA443536756 | DNAH5 | c.1929T>C (p.Leu643=) c.1884T>C (p.Leu628=) n.2136T>C c.2037T>C (p.Leu679=) c.942T>C (p.Leu314=) c.531T>C (p.Leu177=) n.2054T>C | |
| 5 | g.13901375A>T | CA443536758 | DNAH5 | c.1929T>A (p.Leu643=) c.1884T>A (p.Leu628=) n.2136T>A c.2037T>A (p.Leu679=) c.942T>A (p.Leu314=) c.531T>A (p.Leu177=) n.2054T>A | |
| 5 | g.13901376A>C | CA359205406 | DNAH5 | c.1928T>G (p.Leu643Arg) c.1883T>G (p.Leu628Arg) n.2135T>G c.2036T>G (p.Leu679Arg) c.941T>G (p.Leu314Arg) c.530T>G (p.Leu177Arg) n.2053T>G | |
| 5 | g.13901376A>G | CA359205409 | DNAH5 | c.1928T>C (p.Leu643Pro) c.1883T>C (p.Leu628Pro) n.2135T>C c.2036T>C (p.Leu679Pro) c.941T>C (p.Leu314Pro) c.530T>C (p.Leu177Pro) n.2053T>C | |
| 5 | g.13901376A>T | CA359205410 | DNAH5 | c.1928T>A (p.Leu643His) c.1883T>A (p.Leu628His) n.2135T>A c.2036T>A (p.Leu679His) c.941T>A (p.Leu314His) c.530T>A (p.Leu177His) n.2053T>A | |
| 5 | g.13901377G>A | CA359205418 | DNAH5 | c.1927C>T (p.Leu643Phe) c.1882C>T (p.Leu628Phe) n.2134C>T c.2035C>T (p.Leu679Phe) c.940C>T (p.Leu314Phe) c.529C>T (p.Leu177Phe) n.2052C>T | gnomAD v4 |
| 5 | g.13901377G>C | CA359205420 | DNAH5 | c.1927C>G (p.Leu643Val) c.1882C>G (p.Leu628Val) n.2134C>G c.2035C>G (p.Leu679Val) c.940C>G (p.Leu314Val) c.529C>G (p.Leu177Val) n.2052C>G | |
| 5 | g.13901377G>T | CA359205422 | DNAH5 | c.1927C>A (p.Leu643Ile) c.1882C>A (p.Leu628Ile) n.2134C>A c.2035C>A (p.Leu679Ile) c.940C>A (p.Leu314Ile) c.529C>A (p.Leu177Ile) n.2052C>A | |
| 5 | g.13901378C>A | CA359205426 | DNAH5 | c.1926G>T (p.Gln642His) c.1881G>T (p.Gln627His) n.2133G>T c.2034G>T (p.Gln678His) c.939G>T (p.Gln313His) c.528G>T (p.Gln176His) n.2051G>T | |
| 5 | g.13901378C>G | CA359205432 | DNAH5 | c.1926G>C (p.Gln642His) c.1881G>C (p.Gln627His) n.2133G>C c.2034G>C (p.Gln678His) c.939G>C (p.Gln313His) c.528G>C (p.Gln176His) n.2051G>C | gnomAD v4 |
| 5 | g.13901378C>T | CA443536760 | DNAH5 | c.1926G>A (p.Gln642=) c.1881G>A (p.Gln627=) n.2133G>A c.2034G>A (p.Gln678=) c.939G>A (p.Gln313=) c.528G>A (p.Gln176=) n.2051G>A | gnomAD v4 |
| 5 | g.13901379T>A | CA359205435 | DNAH5 | c.1925A>T (p.Gln642Leu) c.1880A>T (p.Gln627Leu) n.2132A>T c.2033A>T (p.Gln678Leu) c.938A>T (p.Gln313Leu) c.527A>T (p.Gln176Leu) n.2050A>T | |
| 5 | g.13901379T>C | CA359205434 | DNAH5 | c.1925A>G (p.Gln642Arg) c.1880A>G (p.Gln627Arg) n.2132A>G c.2033A>G (p.Gln678Arg) c.938A>G (p.Gln313Arg) c.527A>G (p.Gln176Arg) n.2050A>G | |
| 5 | g.13901379T>G | CA359205433 | DNAH5 | c.1925A>C (p.Gln642Pro) c.1880A>C (p.Gln627Pro) n.2132A>C c.2033A>C (p.Gln678Pro) c.938A>C (p.Gln313Pro) c.527A>C (p.Gln176Pro) n.2050A>C | |
| 5 | g.13901380G>A | CA359205436 | DNAH5 | c.1924C>T (p.Gln642Ter) c.1879C>T (p.Gln627Ter) n.2131C>T c.2032C>T (p.Gln678Ter) c.937C>T (p.Gln313Ter) c.526C>T (p.Gln176Ter) n.2049C>T | ClinVar |
| 5 | g.13901380G>C | CA359205437 | DNAH5 | c.1924C>G (p.Gln642Glu) c.1879C>G (p.Gln627Glu) n.2131C>G c.2032C>G (p.Gln678Glu) c.937C>G (p.Gln313Glu) c.526C>G (p.Gln176Glu) n.2049C>G | |
| 5 | g.13901380G>T | CA359205438 | DNAH5 | c.1924C>A (p.Gln642Lys) c.1879C>A (p.Gln627Lys) n.2131C>A c.2032C>A (p.Gln678Lys) c.937C>A (p.Gln313Lys) c.526C>A (p.Gln176Lys) n.2049C>A | gnomAD v4 |
| 5 | g.13901381C>A | CA359205439 | DNAH5 | c.1923G>T (p.Met641Ile) c.1878G>T (p.Met626Ile) n.2130G>T c.2031G>T (p.Met677Ile) c.936G>T (p.Met312Ile) c.525G>T (p.Met175Ile) n.2048G>T | COSMIC |
| 5 | g.13901381C>G | CA359205440 | DNAH5 | c.1923G>C (p.Met641Ile) c.1878G>C (p.Met626Ile) n.2130G>C c.2031G>C (p.Met677Ile) c.936G>C (p.Met312Ile) c.525G>C (p.Met175Ile) n.2048G>C | |
| 5 | g.13901381C>T | CA359205441 | DNAH5 | c.1923G>A (p.Met641Ile) c.1878G>A (p.Met626Ile) n.2130G>A c.2031G>A (p.Met677Ile) c.936G>A (p.Met312Ile) c.525G>A (p.Met175Ile) n.2048G>A | gnomAD v4 |
| 5 | g.13901382A= | CA1528490430 | DNAH5 | c.1922T= (p.Met641=) c.1877T= (p.Met626=) n.2129T= c.2030T= (p.Met677=) c.935T= (p.Met312=) c.524T= (p.Met175=) n.2047T= | |
| 5 | g.13901382A>C | CA359205442 | DNAH5 | c.1922T>G (p.Met641Arg) c.1877T>G (p.Met626Arg) n.2129T>G c.2030T>G (p.Met677Arg) c.935T>G (p.Met312Arg) c.524T>G (p.Met175Arg) n.2047T>G | |
| 5 | g.13901382A>G | CA113944232 | DNAH5 | c.1922T>C (p.Met641Thr) c.1877T>C (p.Met626Thr) n.2129T>C c.2030T>C (p.Met677Thr) c.935T>C (p.Met312Thr) c.524T>C (p.Met175Thr) n.2047T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901382A>T | CA359205444 | DNAH5 | c.1922T>A (p.Met641Lys) c.1877T>A (p.Met626Lys) n.2129T>A c.2030T>A (p.Met677Lys) c.935T>A (p.Met312Lys) c.524T>A (p.Met175Lys) n.2047T>A | |
| 5 | g.13901383T>A | CA359205447 | DNAH5 | c.1921A>T (p.Met641Leu) c.1876A>T (p.Met626Leu) n.2128A>T c.2029A>T (p.Met677Leu) c.934A>T (p.Met312Leu) c.523A>T (p.Met175Leu) n.2046A>T | gnomAD v4 |
| 5 | g.13901383T>C | CA359205451 | DNAH5 | c.1921A>G (p.Met641Val) c.1876A>G (p.Met626Val) n.2128A>G c.2029A>G (p.Met677Val) c.934A>G (p.Met312Val) c.523A>G (p.Met175Val) n.2046A>G | dbSNP gnomAD v4 |
| 5 | g.13901383T>G | CA359205456 | DNAH5 | c.1921A>C (p.Met641Leu) c.1876A>C (p.Met626Leu) n.2128A>C c.2029A>C (p.Met677Leu) c.934A>C (p.Met312Leu) c.523A>C (p.Met175Leu) n.2046A>C | |
| 5 | g.13901383T= | CA1528490431 | DNAH5 | c.1921A= (p.Met641=) c.1876A= (p.Met626=) n.2128A= c.2029A= (p.Met677=) c.934A= (p.Met312=) c.523A= (p.Met175=) n.2046A= | |
| 5 | g.13901384G>A | CA443536765 | DNAH5 | c.1920C>T (p.Pro640=) c.1875C>T (p.Pro625=) n.2127C>T c.2028C>T (p.Pro676=) c.933C>T (p.Pro311=) c.522C>T (p.Pro174=) n.2045C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901384G>C | CA443536768 | DNAH5 | c.1920C>G (p.Pro640=) c.1875C>G (p.Pro625=) n.2127C>G c.2028C>G (p.Pro676=) c.933C>G (p.Pro311=) c.522C>G (p.Pro174=) n.2045C>G | |
| 5 | g.13901384G= | CA1528490432 | DNAH5 | c.1920C= (p.Pro640=) c.1875C= (p.Pro625=) n.2127C= c.2028C= (p.Pro676=) c.933C= (p.Pro311=) c.522C= (p.Pro174=) n.2045C= | |
| 5 | g.13901384G>T | CA443536767 | DNAH5 | c.1920C>A (p.Pro640=) c.1875C>A (p.Pro625=) n.2127C>A c.2028C>A (p.Pro676=) c.933C>A (p.Pro311=) c.522C>A (p.Pro174=) n.2045C>A | COSMIC |
| 5 | g.13901385G>A | CA359205467 | DNAH5 | c.1919C>T (p.Pro640Leu) c.1874C>T (p.Pro625Leu) n.2126C>T c.2027C>T (p.Pro676Leu) c.932C>T (p.Pro311Leu) c.521C>T (p.Pro174Leu) n.2044C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13901385G>C | CA359205465 | DNAH5 | c.1919C>G (p.Pro640Arg) c.1874C>G (p.Pro625Arg) n.2126C>G c.2027C>G (p.Pro676Arg) c.932C>G (p.Pro311Arg) c.521C>G (p.Pro174Arg) n.2044C>G | |
| 5 | g.13901385G= | CA1528490433 | DNAH5 | c.1919C= (p.Pro640=) c.1874C= (p.Pro625=) n.2126C= c.2027C= (p.Pro676=) c.932C= (p.Pro311=) c.521C= (p.Pro174=) n.2044C= | |
| 5 | g.13901385G>T | CA359205464 | DNAH5 | c.1919C>A (p.Pro640His) c.1874C>A (p.Pro625His) n.2126C>A c.2027C>A (p.Pro676His) c.932C>A (p.Pro311His) c.521C>A (p.Pro174His) n.2044C>A | |
| 5 | g.13901386G>A | CA359205470 | DNAH5 | c.1918C>T (p.Pro640Ser) c.1873C>T (p.Pro625Ser) n.2125C>T c.2026C>T (p.Pro676Ser) c.931C>T (p.Pro311Ser) c.520C>T (p.Pro174Ser) n.2043C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13901386G>C | CA359205472 | DNAH5 | c.1918C>G (p.Pro640Ala) c.1873C>G (p.Pro625Ala) n.2125C>G c.2026C>G (p.Pro676Ala) c.931C>G (p.Pro311Ala) c.520C>G (p.Pro174Ala) n.2043C>G | |
| 5 | g.13901386G= | CA1528490434 | DNAH5 | c.1918C= (p.Pro640=) c.1873C= (p.Pro625=) n.2125C= c.2026C= (p.Pro676=) c.931C= (p.Pro311=) c.520C= (p.Pro174=) n.2043C= | |
| 5 | g.13901386G>T | CA359205471 | DNAH5 | c.1918C>A (p.Pro640Thr) c.1873C>A (p.Pro625Thr) n.2125C>A c.2026C>A (p.Pro676Thr) c.931C>A (p.Pro311Thr) c.520C>A (p.Pro174Thr) n.2043C>A |