Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13752178T>A | CA359189872 | DNAH5 | c.10984A>T (p.Asn3662Tyr) c.10939A>T (p.Asn3647Tyr) c.11092A>T (p.Asn3698Tyr) c.9997A>T (p.Asn3333Tyr) c.6181A>T (p.Asn2061Tyr) c.5734A>T (p.Asn1912Tyr) c.5071A>T (p.Asn1691Tyr) c.9586A>T (p.Asn3196Tyr) | |
5 | g.13752178T>C | CA359189873 | DNAH5 | c.10984A>G (p.Asn3662Asp) c.10939A>G (p.Asn3647Asp) c.11092A>G (p.Asn3698Asp) c.9997A>G (p.Asn3333Asp) c.6181A>G (p.Asn2061Asp) c.5734A>G (p.Asn1912Asp) c.5071A>G (p.Asn1691Asp) c.9586A>G (p.Asn3196Asp) | dbSNP gnomAD v4 |
5 | g.13752178T>G | CA359189876 | DNAH5 | c.10984A>C (p.Asn3662His) c.10939A>C (p.Asn3647His) c.11092A>C (p.Asn3698His) c.9997A>C (p.Asn3333His) c.6181A>C (p.Asn2061His) c.5734A>C (p.Asn1912His) c.5071A>C (p.Asn1691His) c.9586A>C (p.Asn3196His) | |
5 | g.13752178T= | CA1528422930 | DNAH5 | c.10984A= (p.Asn3662=) c.10939A= (p.Asn3647=) c.11092A= (p.Asn3698=) c.9997A= (p.Asn3333=) c.6181A= (p.Asn2061=) c.5734A= (p.Asn1912=) c.5071A= (p.Asn1691=) c.9586A= (p.Asn3196=) | |
5 | g.13752179A= | CA1528422931 | DNAH5 | c.10983T= (p.Asp3661=) c.10938T= (p.Asp3646=) c.11091T= (p.Asp3697=) c.9996T= (p.Asp3332=) c.6180T= (p.Asp2060=) c.5733T= (p.Asp1911=) c.5070T= (p.Asp1690=) c.9585T= (p.Asp3195=) | |
5 | g.13752179A>C | CA359189880 | DNAH5 | c.10983T>G (p.Asp3661Glu) c.10938T>G (p.Asp3646Glu) c.11091T>G (p.Asp3697Glu) c.9996T>G (p.Asp3332Glu) c.6180T>G (p.Asp2060Glu) c.5733T>G (p.Asp1911Glu) c.5070T>G (p.Asp1690Glu) c.9585T>G (p.Asp3195Glu) | |
5 | g.13752179A>G | CA443248635 | DNAH5 | c.10983T>C (p.Asp3661=) c.10938T>C (p.Asp3646=) c.11091T>C (p.Asp3697=) c.9996T>C (p.Asp3332=) c.6180T>C (p.Asp2060=) c.5733T>C (p.Asp1911=) c.5070T>C (p.Asp1690=) c.9585T>C (p.Asp3195=) | ClinVar dbSNP gnomAD v4 |
5 | g.13752179A>T | CA10622655 | DNAH5 | c.10983T>A (p.Asp3661Glu) c.10938T>A (p.Asp3646Glu) c.11091T>A (p.Asp3697Glu) c.9996T>A (p.Asp3332Glu) c.6180T>A (p.Asp2060Glu) c.5733T>A (p.Asp1911Glu) c.5070T>A (p.Asp1690Glu) c.9585T>A (p.Asp3195Glu) | ClinVar dbSNP gnomAD v4 |
5 | g.13752180T>A | CA359189887 | DNAH5 | c.10982A>T (p.Asp3661Val) c.10937A>T (p.Asp3646Val) c.11090A>T (p.Asp3697Val) c.9995A>T (p.Asp3332Val) c.6179A>T (p.Asp2060Val) c.5732A>T (p.Asp1911Val) c.5069A>T (p.Asp1690Val) c.9584A>T (p.Asp3195Val) | |
5 | g.13752180T>C | CA359189890 | DNAH5 | c.10982A>G (p.Asp3661Gly) c.10937A>G (p.Asp3646Gly) c.11090A>G (p.Asp3697Gly) c.9995A>G (p.Asp3332Gly) c.6179A>G (p.Asp2060Gly) c.5732A>G (p.Asp1911Gly) c.5069A>G (p.Asp1690Gly) c.9584A>G (p.Asp3195Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752180T>G | CA359189893 | DNAH5 | c.10982A>C (p.Asp3661Ala) c.10937A>C (p.Asp3646Ala) c.11090A>C (p.Asp3697Ala) c.9995A>C (p.Asp3332Ala) c.6179A>C (p.Asp2060Ala) c.5732A>C (p.Asp1911Ala) c.5069A>C (p.Asp1690Ala) c.9584A>C (p.Asp3195Ala) | |
5 | g.13752180T= | CA1528422932 | DNAH5 | c.10982A= (p.Asp3661=) c.10937A= (p.Asp3646=) c.11090A= (p.Asp3697=) c.9995A= (p.Asp3332=) c.6179A= (p.Asp2060=) c.5732A= (p.Asp1911=) c.5069A= (p.Asp1690=) c.9584A= (p.Asp3195=) | |
5 | g.13752181C>A | CA359189899 | DNAH5 | c.10981G>T (p.Asp3661Tyr) c.10936G>T (p.Asp3646Tyr) c.11089G>T (p.Asp3697Tyr) c.9994G>T (p.Asp3332Tyr) c.6178G>T (p.Asp2060Tyr) c.5731G>T (p.Asp1911Tyr) c.5068G>T (p.Asp1690Tyr) c.9583G>T (p.Asp3195Tyr) | |
5 | g.13752181C= | CA1528422933 | DNAH5 | c.10981G= (p.Asp3661=) c.10936G= (p.Asp3646=) c.11089G= (p.Asp3697=) c.9994G= (p.Asp3332=) c.6178G= (p.Asp2060=) c.5731G= (p.Asp1911=) c.5068G= (p.Asp1690=) c.9583G= (p.Asp3195=) | |
5 | g.13752181C>G | CA359189901 | DNAH5 | c.10981G>C (p.Asp3661His) c.10936G>C (p.Asp3646His) c.11089G>C (p.Asp3697His) c.9994G>C (p.Asp3332His) c.6178G>C (p.Asp2060His) c.5731G>C (p.Asp1911His) c.5068G>C (p.Asp1690His) c.9583G>C (p.Asp3195His) | COSMIC |
5 | g.13752181C>T | CA359189896 | DNAH5 | c.10981G>A (p.Asp3661Asn) c.10936G>A (p.Asp3646Asn) c.11089G>A (p.Asp3697Asn) c.9994G>A (p.Asp3332Asn) c.6178G>A (p.Asp2060Asn) c.5731G>A (p.Asp1911Asn) c.5068G>A (p.Asp1690Asn) c.9583G>A (p.Asp3195Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752182T>A | CA443248636 | DNAH5 | c.10980A>T (p.Leu3660=) c.10935A>T (p.Leu3645=) c.11088A>T (p.Leu3696=) c.9993A>T (p.Leu3331=) c.6177A>T (p.Leu2059=) c.5730A>T (p.Leu1910=) c.5067A>T (p.Leu1689=) c.9582A>T (p.Leu3194=) | |
5 | g.13752182T>C | CA443248637 | DNAH5 | c.10980A>G (p.Leu3660=) c.10935A>G (p.Leu3645=) c.11088A>G (p.Leu3696=) c.9993A>G (p.Leu3331=) c.6177A>G (p.Leu2059=) c.5730A>G (p.Leu1910=) c.5067A>G (p.Leu1689=) c.9582A>G (p.Leu3194=) | |
5 | g.13752182T>G | CA443248638 | DNAH5 | c.10980A>C (p.Leu3660=) c.10935A>C (p.Leu3645=) c.11088A>C (p.Leu3696=) c.9993A>C (p.Leu3331=) c.6177A>C (p.Leu2059=) c.5730A>C (p.Leu1910=) c.5067A>C (p.Leu1689=) c.9582A>C (p.Leu3194=) | |
5 | g.13752183A>C | CA359189902 | DNAH5 | c.10979T>G (p.Leu3660Arg) c.10934T>G (p.Leu3645Arg) c.11087T>G (p.Leu3696Arg) c.9992T>G (p.Leu3331Arg) c.6176T>G (p.Leu2059Arg) c.5729T>G (p.Leu1910Arg) c.5066T>G (p.Leu1689Arg) c.9581T>G (p.Leu3194Arg) | |
5 | g.13752183A>G | CA359189903 | DNAH5 | c.10979T>C (p.Leu3660Pro) c.10934T>C (p.Leu3645Pro) c.11087T>C (p.Leu3696Pro) c.9992T>C (p.Leu3331Pro) c.6176T>C (p.Leu2059Pro) c.5729T>C (p.Leu1910Pro) c.5066T>C (p.Leu1689Pro) c.9581T>C (p.Leu3194Pro) | |
5 | g.13752183A>T | CA359189906 | DNAH5 | c.10979T>A (p.Leu3660Gln) c.10934T>A (p.Leu3645Gln) c.11087T>A (p.Leu3696Gln) c.9992T>A (p.Leu3331Gln) c.6176T>A (p.Leu2059Gln) c.5729T>A (p.Leu1910Gln) c.5066T>A (p.Leu1689Gln) c.9581T>A (p.Leu3194Gln) | |
5 | g.13752184G>A | CA443248640 | DNAH5 | c.10978C>T (p.Leu3660=) c.10933C>T (p.Leu3645=) c.11086C>T (p.Leu3696=) c.9991C>T (p.Leu3331=) c.6175C>T (p.Leu2059=) c.5728C>T (p.Leu1910=) c.5065C>T (p.Leu1689=) c.9580C>T (p.Leu3194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752184G>C | CA359189909 | DNAH5 | c.10978C>G (p.Leu3660Val) c.10933C>G (p.Leu3645Val) c.11086C>G (p.Leu3696Val) c.9991C>G (p.Leu3331Val) c.6175C>G (p.Leu2059Val) c.5728C>G (p.Leu1910Val) c.5065C>G (p.Leu1689Val) c.9580C>G (p.Leu3194Val) | |
5 | g.13752184G= | CA1528422934 | DNAH5 | c.10978C= (p.Leu3660=) c.10933C= (p.Leu3645=) c.11086C= (p.Leu3696=) c.9991C= (p.Leu3331=) c.6175C= (p.Leu2059=) c.5728C= (p.Leu1910=) c.5065C= (p.Leu1689=) c.9580C= (p.Leu3194=) | |
5 | g.13752184G>T | CA359189912 | DNAH5 | c.10978C>A (p.Leu3660Ile) c.10933C>A (p.Leu3645Ile) c.11086C>A (p.Leu3696Ile) c.9991C>A (p.Leu3331Ile) c.6175C>A (p.Leu2059Ile) c.5728C>A (p.Leu1910Ile) c.5065C>A (p.Leu1689Ile) c.9580C>A (p.Leu3194Ile) | |
5 | g.13752185T>A | CA443248641 | DNAH5 | c.10977A>T (p.Ala3659=) c.10932A>T (p.Ala3644=) c.11085A>T (p.Ala3695=) c.9990A>T (p.Ala3330=) c.6174A>T (p.Ala2058=) c.5727A>T (p.Ala1909=) c.5064A>T (p.Ala1688=) c.9579A>T (p.Ala3193=) | |
5 | g.13752185T>C | CA443248643 | DNAH5 | c.10977A>G (p.Ala3659=) c.10932A>G (p.Ala3644=) c.11085A>G (p.Ala3695=) c.9990A>G (p.Ala3330=) c.6174A>G (p.Ala2058=) c.5727A>G (p.Ala1909=) c.5064A>G (p.Ala1688=) c.9579A>G (p.Ala3193=) | ClinVar dbSNP gnomAD v4 |
5 | g.13752185T>G | CA443248644 | DNAH5 | c.10977A>C (p.Ala3659=) c.10932A>C (p.Ala3644=) c.11085A>C (p.Ala3695=) c.9990A>C (p.Ala3330=) c.6174A>C (p.Ala2058=) c.5727A>C (p.Ala1909=) c.5064A>C (p.Ala1688=) c.9579A>C (p.Ala3193=) | |
5 | g.13752186G>A | CA359189916 | DNAH5 | c.10976C>T (p.Ala3659Val) c.10931C>T (p.Ala3644Val) c.11084C>T (p.Ala3695Val) c.9989C>T (p.Ala3330Val) c.6173C>T (p.Ala2058Val) c.5726C>T (p.Ala1909Val) c.5063C>T (p.Ala1688Val) c.9578C>T (p.Ala3193Val) | |
5 | g.13752186G>C | CA359189919 | DNAH5 | c.10976C>G (p.Ala3659Gly) c.10931C>G (p.Ala3644Gly) c.11084C>G (p.Ala3695Gly) c.9989C>G (p.Ala3330Gly) c.6173C>G (p.Ala2058Gly) c.5726C>G (p.Ala1909Gly) c.5063C>G (p.Ala1688Gly) c.9578C>G (p.Ala3193Gly) | |
5 | g.13752186G= | CA1528422935 | DNAH5 | c.10976C= (p.Ala3659=) c.10931C= (p.Ala3644=) c.11084C= (p.Ala3695=) c.9989C= (p.Ala3330=) c.6173C= (p.Ala2058=) c.5726C= (p.Ala1909=) c.5063C= (p.Ala1688=) c.9578C= (p.Ala3193=) | |
5 | g.13752186G>T | CA113917711 | DNAH5 | c.10976C>A (p.Ala3659Glu) c.10931C>A (p.Ala3644Glu) c.11084C>A (p.Ala3695Glu) c.9989C>A (p.Ala3330Glu) c.6173C>A (p.Ala2058Glu) c.5726C>A (p.Ala1909Glu) c.5063C>A (p.Ala1688Glu) c.9578C>A (p.Ala3193Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752187C>A | CA359189935 | DNAH5 | c.10975G>T (p.Ala3659Ser) c.10930G>T (p.Ala3644Ser) c.11083G>T (p.Ala3695Ser) c.9988G>T (p.Ala3330Ser) c.6172G>T (p.Ala2058Ser) c.5725G>T (p.Ala1909Ser) c.5062G>T (p.Ala1688Ser) c.9577G>T (p.Ala3193Ser) | |
5 | g.13752187C>G | CA359189942 | DNAH5 | c.10975G>C (p.Ala3659Pro) c.10930G>C (p.Ala3644Pro) c.11083G>C (p.Ala3695Pro) c.9988G>C (p.Ala3330Pro) c.6172G>C (p.Ala2058Pro) c.5725G>C (p.Ala1909Pro) c.5062G>C (p.Ala1688Pro) c.9577G>C (p.Ala3193Pro) | |
5 | g.13752187C>T | CA359189944 | DNAH5 | c.10975G>A (p.Ala3659Thr) c.10930G>A (p.Ala3644Thr) c.11083G>A (p.Ala3695Thr) c.9988G>A (p.Ala3330Thr) c.6172G>A (p.Ala2058Thr) c.5725G>A (p.Ala1909Thr) c.5062G>A (p.Ala1688Thr) c.9577G>A (p.Ala3193Thr) | |
5 | g.13752188T>A | CA443248646 | DNAH5 | c.10974A>T (p.Pro3658=) c.10929A>T (p.Pro3643=) c.11082A>T (p.Pro3694=) c.9987A>T (p.Pro3329=) c.6171A>T (p.Pro2057=) c.5724A>T (p.Pro1908=) c.5061A>T (p.Pro1687=) c.9576A>T (p.Pro3192=) | |
5 | g.13752188T>C | CA3202087 | DNAH5 | c.10974A>G (p.Pro3658=) c.10929A>G (p.Pro3643=) c.11082A>G (p.Pro3694=) c.9987A>G (p.Pro3329=) c.6171A>G (p.Pro2057=) c.5724A>G (p.Pro1908=) c.5061A>G (p.Pro1687=) c.9576A>G (p.Pro3192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752188T>G | CA443248648 | DNAH5 | c.10974A>C (p.Pro3658=) c.10929A>C (p.Pro3643=) c.11082A>C (p.Pro3694=) c.9987A>C (p.Pro3329=) c.6171A>C (p.Pro2057=) c.5724A>C (p.Pro1908=) c.5061A>C (p.Pro1687=) c.9576A>C (p.Pro3192=) | |
5 | g.13752188T= | CA1528422936 | DNAH5 | c.10974A= (p.Pro3658=) c.10929A= (p.Pro3643=) c.11082A= (p.Pro3694=) c.9987A= (p.Pro3329=) c.6171A= (p.Pro2057=) c.5724A= (p.Pro1908=) c.5061A= (p.Pro1687=) c.9576A= (p.Pro3192=) | |
5 | g.13752189G>A | CA359189953 | DNAH5 | c.10973C>T (p.Pro3658Leu) c.10928C>T (p.Pro3643Leu) c.11081C>T (p.Pro3694Leu) c.9986C>T (p.Pro3329Leu) c.6170C>T (p.Pro2057Leu) c.5723C>T (p.Pro1908Leu) c.5060C>T (p.Pro1687Leu) c.9575C>T (p.Pro3192Leu) | ClinVar |
5 | g.13752189G>C | CA359189949 | DNAH5 | c.10973C>G (p.Pro3658Arg) c.10928C>G (p.Pro3643Arg) c.11081C>G (p.Pro3694Arg) c.9986C>G (p.Pro3329Arg) c.6170C>G (p.Pro2057Arg) c.5723C>G (p.Pro1908Arg) c.5060C>G (p.Pro1687Arg) c.9575C>G (p.Pro3192Arg) | gnomAD v4 |
5 | g.13752189G>T | CA359189951 | DNAH5 | c.10973C>A (p.Pro3658Gln) c.10928C>A (p.Pro3643Gln) c.11081C>A (p.Pro3694Gln) c.9986C>A (p.Pro3329Gln) c.6170C>A (p.Pro2057Gln) c.5723C>A (p.Pro1908Gln) c.5060C>A (p.Pro1687Gln) c.9575C>A (p.Pro3192Gln) | |
5 | g.13752190G>A | CA359189956 | DNAH5 | c.10972C>T (p.Pro3658Ser) c.10927C>T (p.Pro3643Ser) c.11080C>T (p.Pro3694Ser) c.9985C>T (p.Pro3329Ser) c.6169C>T (p.Pro2057Ser) c.5722C>T (p.Pro1908Ser) c.5059C>T (p.Pro1687Ser) c.9574C>T (p.Pro3192Ser) | |
5 | g.13752190G>C | CA113917715 | DNAH5 | c.10972C>G (p.Pro3658Ala) c.10927C>G (p.Pro3643Ala) c.11080C>G (p.Pro3694Ala) c.9985C>G (p.Pro3329Ala) c.6169C>G (p.Pro2057Ala) c.5722C>G (p.Pro1908Ala) c.5059C>G (p.Pro1687Ala) c.9574C>G (p.Pro3192Ala) | dbSNP |
5 | g.13752190G= | CA1528422937 | DNAH5 | c.10972C= (p.Pro3658=) c.10927C= (p.Pro3643=) c.11080C= (p.Pro3694=) c.9985C= (p.Pro3329=) c.6169C= (p.Pro2057=) c.5722C= (p.Pro1908=) c.5059C= (p.Pro1687=) c.9574C= (p.Pro3192=) | |
5 | g.13752190G>T | CA359189959 | DNAH5 | c.10972C>A (p.Pro3658Thr) c.10927C>A (p.Pro3643Thr) c.11080C>A (p.Pro3694Thr) c.9985C>A (p.Pro3329Thr) c.6169C>A (p.Pro2057Thr) c.5722C>A (p.Pro1908Thr) c.5059C>A (p.Pro1687Thr) c.9574C>A (p.Pro3192Thr) | |
5 | g.13752191A>C | CA359189963 | DNAH5 | c.10971T>G (p.Asp3657Glu) c.10926T>G (p.Asp3642Glu) c.11079T>G (p.Asp3693Glu) c.9984T>G (p.Asp3328Glu) c.6168T>G (p.Asp2056Glu) c.5721T>G (p.Asp1907Glu) c.5058T>G (p.Asp1686Glu) c.9573T>G (p.Asp3191Glu) | |
5 | g.13752191A>G | CA443248650 | DNAH5 | c.10971T>C (p.Asp3657=) c.10926T>C (p.Asp3642=) c.11079T>C (p.Asp3693=) c.9984T>C (p.Asp3328=) c.6168T>C (p.Asp2056=) c.5721T>C (p.Asp1907=) c.5058T>C (p.Asp1686=) c.9573T>C (p.Asp3191=) | |
5 | g.13752191A>T | CA359189965 | DNAH5 | c.10971T>A (p.Asp3657Glu) c.10926T>A (p.Asp3642Glu) c.11079T>A (p.Asp3693Glu) c.9984T>A (p.Asp3328Glu) c.6168T>A (p.Asp2056Glu) c.5721T>A (p.Asp1907Glu) c.5058T>A (p.Asp1686Glu) c.9573T>A (p.Asp3191Glu) | |
5 | g.13752192T>A | CA359189968 | DNAH5 | c.10970A>T (p.Asp3657Val) c.10925A>T (p.Asp3642Val) c.11078A>T (p.Asp3693Val) c.9983A>T (p.Asp3328Val) c.6167A>T (p.Asp2056Val) c.5720A>T (p.Asp1907Val) c.5057A>T (p.Asp1686Val) c.9572A>T (p.Asp3191Val) | |
5 | g.13752192T>C | CA359189971 | DNAH5 | c.10970A>G (p.Asp3657Gly) c.10925A>G (p.Asp3642Gly) c.11078A>G (p.Asp3693Gly) c.9983A>G (p.Asp3328Gly) c.6167A>G (p.Asp2056Gly) c.5720A>G (p.Asp1907Gly) c.5057A>G (p.Asp1686Gly) c.9572A>G (p.Asp3191Gly) | |
5 | g.13752192T>G | CA359189974 | DNAH5 | c.10970A>C (p.Asp3657Ala) c.10925A>C (p.Asp3642Ala) c.11078A>C (p.Asp3693Ala) c.9983A>C (p.Asp3328Ala) c.6167A>C (p.Asp2056Ala) c.5720A>C (p.Asp1907Ala) c.5057A>C (p.Asp1686Ala) c.9572A>C (p.Asp3191Ala) | |
5 | g.13752193C>A | CA359189976 | DNAH5 | c.10969G>T (p.Asp3657Tyr) c.10924G>T (p.Asp3642Tyr) c.11077G>T (p.Asp3693Tyr) c.9982G>T (p.Asp3328Tyr) c.6166G>T (p.Asp2056Tyr) c.5719G>T (p.Asp1907Tyr) c.5056G>T (p.Asp1686Tyr) c.9571G>T (p.Asp3191Tyr) | |
5 | g.13752193C>G | CA359189978 | DNAH5 | c.10969G>C (p.Asp3657His) c.10924G>C (p.Asp3642His) c.11077G>C (p.Asp3693His) c.9982G>C (p.Asp3328His) c.6166G>C (p.Asp2056His) c.5719G>C (p.Asp1907His) c.5056G>C (p.Asp1686His) c.9571G>C (p.Asp3191His) | |
5 | g.13752193C>T | CA359189980 | DNAH5 | c.10969G>A (p.Asp3657Asn) c.10924G>A (p.Asp3642Asn) c.11077G>A (p.Asp3693Asn) c.9982G>A (p.Asp3328Asn) c.6166G>A (p.Asp2056Asn) c.5719G>A (p.Asp1907Asn) c.5056G>A (p.Asp1686Asn) c.9571G>A (p.Asp3191Asn) | |
5 | g.13752194T>A | CA443248655 | DNAH5 | c.10968A>T (p.Leu3656=) c.10923A>T (p.Leu3641=) c.11076A>T (p.Leu3692=) c.9981A>T (p.Leu3327=) c.6165A>T (p.Leu2055=) c.5718A>T (p.Leu1906=) c.5055A>T (p.Leu1685=) c.9570A>T (p.Leu3190=) | gnomAD v4 |
5 | g.13752194T>C | CA3202088 | DNAH5 | c.10968A>G (p.Leu3656=) c.10923A>G (p.Leu3641=) c.11076A>G (p.Leu3692=) c.9981A>G (p.Leu3327=) c.6165A>G (p.Leu2055=) c.5718A>G (p.Leu1906=) c.5055A>G (p.Leu1685=) c.9570A>G (p.Leu3190=) | dbSNP ExAC gnomAD v4 |
5 | g.13752194T>G | CA443248658 | DNAH5 | c.10968A>C (p.Leu3656=) c.10923A>C (p.Leu3641=) c.11076A>C (p.Leu3692=) c.9981A>C (p.Leu3327=) c.6165A>C (p.Leu2055=) c.5718A>C (p.Leu1906=) c.5055A>C (p.Leu1685=) c.9570A>C (p.Leu3190=) | |
5 | g.13752194T= | CA1528422938 | DNAH5 | c.10968A= (p.Leu3656=) c.10923A= (p.Leu3641=) c.11076A= (p.Leu3692=) c.9981A= (p.Leu3327=) c.6165A= (p.Leu2055=) c.5718A= (p.Leu1906=) c.5055A= (p.Leu1685=) c.9570A= (p.Leu3190=) | |
5 | g.13752195A>C | CA359189988 | DNAH5 | c.10967T>G (p.Leu3656Arg) c.10922T>G (p.Leu3641Arg) c.11075T>G (p.Leu3692Arg) c.9980T>G (p.Leu3327Arg) c.6164T>G (p.Leu2055Arg) c.5717T>G (p.Leu1906Arg) c.5054T>G (p.Leu1685Arg) c.9569T>G (p.Leu3190Arg) | |
5 | g.13752195A>G | CA359189986 | DNAH5 | c.10967T>C (p.Leu3656Pro) c.10922T>C (p.Leu3641Pro) c.11075T>C (p.Leu3692Pro) c.9980T>C (p.Leu3327Pro) c.6164T>C (p.Leu2055Pro) c.5717T>C (p.Leu1906Pro) c.5054T>C (p.Leu1685Pro) c.9569T>C (p.Leu3190Pro) | |
5 | g.13752195A>T | CA359189983 | DNAH5 | c.10967T>A (p.Leu3656Gln) c.10922T>A (p.Leu3641Gln) c.11075T>A (p.Leu3692Gln) c.9980T>A (p.Leu3327Gln) c.6164T>A (p.Leu2055Gln) c.5717T>A (p.Leu1906Gln) c.5054T>A (p.Leu1685Gln) c.9569T>A (p.Leu3190Gln) | |
5 | g.13752196G>A | CA443248662 | DNAH5 | c.10966C>T (p.Leu3656=) c.10921C>T (p.Leu3641=) c.11074C>T (p.Leu3692=) c.9979C>T (p.Leu3327=) c.6163C>T (p.Leu2055=) c.5716C>T (p.Leu1906=) c.5053C>T (p.Leu1685=) c.9568C>T (p.Leu3190=) | |
5 | g.13752196G>C | CA359189991 | DNAH5 | c.10966C>G (p.Leu3656Val) c.10921C>G (p.Leu3641Val) c.11074C>G (p.Leu3692Val) c.9979C>G (p.Leu3327Val) c.6163C>G (p.Leu2055Val) c.5716C>G (p.Leu1906Val) c.5053C>G (p.Leu1685Val) c.9568C>G (p.Leu3190Val) | |
5 | g.13752196G>T | CA359189994 | DNAH5 | c.10966C>A (p.Leu3656Ile) c.10921C>A (p.Leu3641Ile) c.11074C>A (p.Leu3692Ile) c.9979C>A (p.Leu3327Ile) c.6163C>A (p.Leu2055Ile) c.5716C>A (p.Leu1906Ile) c.5053C>A (p.Leu1685Ile) c.9568C>A (p.Leu3190Ile) | |
5 | g.13752197T>A | CA359189997 | DNAH5 | c.10965A>T (p.Glu3655Asp) c.10920A>T (p.Glu3640Asp) c.11073A>T (p.Glu3691Asp) c.9978A>T (p.Glu3326Asp) c.6162A>T (p.Glu2054Asp) c.5715A>T (p.Glu1905Asp) c.5052A>T (p.Glu1684Asp) c.9567A>T (p.Glu3189Asp) | |
5 | g.13752197T>C | CA443248666 | DNAH5 | c.10965A>G (p.Glu3655=) c.10920A>G (p.Glu3640=) c.11073A>G (p.Glu3691=) c.9978A>G (p.Glu3326=) c.6162A>G (p.Glu2054=) c.5715A>G (p.Glu1905=) c.5052A>G (p.Glu1684=) c.9567A>G (p.Glu3189=) | gnomAD v4 |
5 | g.13752197T>G | CA359189999 | DNAH5 | c.10965A>C (p.Glu3655Asp) c.10920A>C (p.Glu3640Asp) c.11073A>C (p.Glu3691Asp) c.9978A>C (p.Glu3326Asp) c.6162A>C (p.Glu2054Asp) c.5715A>C (p.Glu1905Asp) c.5052A>C (p.Glu1684Asp) c.9567A>C (p.Glu3189Asp) | |
5 | g.13752198T>A | CA359190002 | DNAH5 | c.10964A>T (p.Glu3655Val) c.10919A>T (p.Glu3640Val) c.11072A>T (p.Glu3691Val) c.9977A>T (p.Glu3326Val) c.6161A>T (p.Glu2054Val) c.5714A>T (p.Glu1905Val) c.5051A>T (p.Glu1684Val) c.9566A>T (p.Glu3189Val) | |
5 | g.13752198T>C | CA359190005 | DNAH5 | c.10964A>G (p.Glu3655Gly) c.10919A>G (p.Glu3640Gly) c.11072A>G (p.Glu3691Gly) c.9977A>G (p.Glu3326Gly) c.6161A>G (p.Glu2054Gly) c.5714A>G (p.Glu1905Gly) c.5051A>G (p.Glu1684Gly) c.9566A>G (p.Glu3189Gly) | |
5 | g.13752198T>G | CA359190007 | DNAH5 | c.10964A>C (p.Glu3655Ala) c.10919A>C (p.Glu3640Ala) c.11072A>C (p.Glu3691Ala) c.9977A>C (p.Glu3326Ala) c.6161A>C (p.Glu2054Ala) c.5714A>C (p.Glu1905Ala) c.5051A>C (p.Glu1684Ala) c.9566A>C (p.Glu3189Ala) | |
5 | g.13752199C>A | CA359190011 | DNAH5 | c.10963G>T (p.Glu3655Ter) c.10918G>T (p.Glu3640Ter) c.11071G>T (p.Glu3691Ter) c.9976G>T (p.Glu3326Ter) c.6160G>T (p.Glu2054Ter) c.5713G>T (p.Glu1905Ter) c.5050G>T (p.Glu1684Ter) c.9565G>T (p.Glu3189Ter) | ClinVar |
5 | g.13752199C>G | CA359190014 | DNAH5 | c.10963G>C (p.Glu3655Gln) c.10918G>C (p.Glu3640Gln) c.11071G>C (p.Glu3691Gln) c.9976G>C (p.Glu3326Gln) c.6160G>C (p.Glu2054Gln) c.5713G>C (p.Glu1905Gln) c.5050G>C (p.Glu1684Gln) c.9565G>C (p.Glu3189Gln) | |
5 | g.13752199C>T | CA359190016 | DNAH5 | c.10963G>A (p.Glu3655Lys) c.10918G>A (p.Glu3640Lys) c.11071G>A (p.Glu3691Lys) c.9976G>A (p.Glu3326Lys) c.6160G>A (p.Glu2054Lys) c.5713G>A (p.Glu1905Lys) c.5050G>A (p.Glu1684Lys) c.9565G>A (p.Glu3189Lys) | COSMIC |
5 | g.13752200C>A | CA359190029 | DNAH5 | c.10962G>T (p.Glu3654Asp) c.10917G>T (p.Glu3639Asp) c.11070G>T (p.Glu3690Asp) c.9975G>T (p.Glu3325Asp) c.6159G>T (p.Glu2053Asp) c.5712G>T (p.Glu1904Asp) c.5049G>T (p.Glu1683Asp) c.9564G>T (p.Glu3188Asp) | |
5 | g.13752200C= | CA1528422939 | DNAH5 | c.10962G= (p.Glu3654=) c.10917G= (p.Glu3639=) c.11070G= (p.Glu3690=) c.9975G= (p.Glu3325=) c.6159G= (p.Glu2053=) c.5712G= (p.Glu1904=) c.5049G= (p.Glu1683=) c.9564G= (p.Glu3188=) | |
5 | g.13752200C>G | CA359190032 | DNAH5 | c.10962G>C (p.Glu3654Asp) c.10917G>C (p.Glu3639Asp) c.11070G>C (p.Glu3690Asp) c.9975G>C (p.Glu3325Asp) c.6159G>C (p.Glu2053Asp) c.5712G>C (p.Glu1904Asp) c.5049G>C (p.Glu1683Asp) c.9564G>C (p.Glu3188Asp) | |
5 | g.13752200C>T | CA443248670 | DNAH5 | c.10962G>A (p.Glu3654=) c.10917G>A (p.Glu3639=) c.11070G>A (p.Glu3690=) c.9975G>A (p.Glu3325=) c.6159G>A (p.Glu2053=) c.5712G>A (p.Glu1904=) c.5049G>A (p.Glu1683=) c.9564G>A (p.Glu3188=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752201T>A | CA359190036 | DNAH5 | c.10961A>T (p.Glu3654Val) c.10916A>T (p.Glu3639Val) c.11069A>T (p.Glu3690Val) c.9974A>T (p.Glu3325Val) c.6158A>T (p.Glu2053Val) c.5711A>T (p.Glu1904Val) c.5048A>T (p.Glu1683Val) c.9563A>T (p.Glu3188Val) | |
5 | g.13752201T>C | CA359190038 | DNAH5 | c.10961A>G (p.Glu3654Gly) c.10916A>G (p.Glu3639Gly) c.11069A>G (p.Glu3690Gly) c.9974A>G (p.Glu3325Gly) c.6158A>G (p.Glu2053Gly) c.5711A>G (p.Glu1904Gly) c.5048A>G (p.Glu1683Gly) c.9563A>G (p.Glu3188Gly) | |
5 | g.13752201T>G | CA359190040 | DNAH5 | c.10961A>C (p.Glu3654Ala) c.10916A>C (p.Glu3639Ala) c.11069A>C (p.Glu3690Ala) c.9974A>C (p.Glu3325Ala) c.6158A>C (p.Glu2053Ala) c.5711A>C (p.Glu1904Ala) c.5048A>C (p.Glu1683Ala) c.9563A>C (p.Glu3188Ala) | |
5 | g.13752202C>A | CA359190045 | DNAH5 | c.10960G>T (p.Glu3654Ter) c.10915G>T (p.Glu3639Ter) c.11068G>T (p.Glu3690Ter) c.9973G>T (p.Glu3325Ter) c.6157G>T (p.Glu2053Ter) c.5710G>T (p.Glu1904Ter) c.5047G>T (p.Glu1683Ter) c.9562G>T (p.Glu3188Ter) | |
5 | g.13752202C= | CA1528422940 | DNAH5 | c.10960G= (p.Glu3654=) c.10915G= (p.Glu3639=) c.11068G= (p.Glu3690=) c.9973G= (p.Glu3325=) c.6157G= (p.Glu2053=) c.5710G= (p.Glu1904=) c.5047G= (p.Glu1683=) c.9562G= (p.Glu3188=) | |
5 | g.13752202C>G | CA3202089 | DNAH5 | c.10960G>C (p.Glu3654Gln) c.10915G>C (p.Glu3639Gln) c.11068G>C (p.Glu3690Gln) c.9973G>C (p.Glu3325Gln) c.6157G>C (p.Glu2053Gln) c.5710G>C (p.Glu1904Gln) c.5047G>C (p.Glu1683Gln) c.9562G>C (p.Glu3188Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752202C>T | CA359190043 | DNAH5 | c.10960G>A (p.Glu3654Lys) c.10915G>A (p.Glu3639Lys) c.11068G>A (p.Glu3690Lys) c.9973G>A (p.Glu3325Lys) c.6157G>A (p.Glu2053Lys) c.5710G>A (p.Glu1904Lys) c.5047G>A (p.Glu1683Lys) c.9562G>A (p.Glu3188Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752203del | CA913108275 | DNAH5 | c.10959del (p.Glu3654ArgfsTer3) c.10914del (p.Glu3639ArgfsTer3) c.11067del (p.Glu3690ArgfsTer3) c.9972del (p.Glu3325ArgfsTer3) c.6156del (p.Glu2053ArgfsTer3) c.5709del (p.Glu1904ArgfsTer3) c.5046del (p.Glu1683ArgfsTer3) c.9561del (p.Glu3188ArgfsTer3) | |
5 | g.13752203T>A | CA443248674 | DNAH5 | c.10959A>T (p.Gly3653=) c.10914A>T (p.Gly3638=) c.11067A>T (p.Gly3689=) c.9972A>T (p.Gly3324=) c.6156A>T (p.Gly2052=) c.5709A>T (p.Gly1903=) c.5046A>T (p.Gly1682=) c.9561A>T (p.Gly3187=) | |
5 | g.13752203T>C | CA443248675 | DNAH5 | c.10959A>G (p.Gly3653=) c.10914A>G (p.Gly3638=) c.11067A>G (p.Gly3689=) c.9972A>G (p.Gly3324=) c.6156A>G (p.Gly2052=) c.5709A>G (p.Gly1903=) c.5046A>G (p.Gly1682=) c.9561A>G (p.Gly3187=) | |
5 | g.13752203T>G | CA443248676 | DNAH5 | c.10959A>C (p.Gly3653=) c.10914A>C (p.Gly3638=) c.11067A>C (p.Gly3689=) c.9972A>C (p.Gly3324=) c.6156A>C (p.Gly2052=) c.5709A>C (p.Gly1903=) c.5046A>C (p.Gly1682=) c.9561A>C (p.Gly3187=) | |
5 | g.13752204C>A | CA359190048 | DNAH5 | c.10958G>T (p.Gly3653Val) c.10913G>T (p.Gly3638Val) c.11066G>T (p.Gly3689Val) c.9971G>T (p.Gly3324Val) c.6155G>T (p.Gly2052Val) c.5708G>T (p.Gly1903Val) c.5045G>T (p.Gly1682Val) c.9560G>T (p.Gly3187Val) | |
5 | g.13752204C= | CA1528422941 | DNAH5 | c.10958G= (p.Gly3653=) c.10913G= (p.Gly3638=) c.11066G= (p.Gly3689=) c.9971G= (p.Gly3324=) c.6155G= (p.Gly2052=) c.5708G= (p.Gly1903=) c.5045G= (p.Gly1682=) c.9560G= (p.Gly3187=) | |
5 | g.13752204C>G | CA359190049 | DNAH5 | c.10958G>C (p.Gly3653Ala) c.10913G>C (p.Gly3638Ala) c.11066G>C (p.Gly3689Ala) c.9971G>C (p.Gly3324Ala) c.6155G>C (p.Gly2052Ala) c.5708G>C (p.Gly1903Ala) c.5045G>C (p.Gly1682Ala) c.9560G>C (p.Gly3187Ala) | gnomAD v4 |
5 | g.13752204C>T | CA3202090 | DNAH5 | c.10958G>A (p.Gly3653Glu) c.10913G>A (p.Gly3638Glu) c.11066G>A (p.Gly3689Glu) c.9971G>A (p.Gly3324Glu) c.6155G>A (p.Gly2052Glu) c.5708G>A (p.Gly1903Glu) c.5045G>A (p.Gly1682Glu) c.9560G>A (p.Gly3187Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752205C>A | CA359190071 | DNAH5 | c.10957G>T (p.Gly3653Ter) c.10912G>T (p.Gly3638Ter) c.11065G>T (p.Gly3689Ter) c.9970G>T (p.Gly3324Ter) c.6154G>T (p.Gly2052Ter) c.5707G>T (p.Gly1903Ter) c.5044G>T (p.Gly1682Ter) c.9559G>T (p.Gly3187Ter) | |
5 | g.13752205C>G | CA359190074 | DNAH5 | c.10957G>C (p.Gly3653Arg) c.10912G>C (p.Gly3638Arg) c.11065G>C (p.Gly3689Arg) c.9970G>C (p.Gly3324Arg) c.6154G>C (p.Gly2052Arg) c.5707G>C (p.Gly1903Arg) c.5044G>C (p.Gly1682Arg) c.9559G>C (p.Gly3187Arg) | |
5 | g.13752205C>T | CA359190077 | DNAH5 | c.10957G>A (p.Gly3653Arg) c.10912G>A (p.Gly3638Arg) c.11065G>A (p.Gly3689Arg) c.9970G>A (p.Gly3324Arg) c.6154G>A (p.Gly2052Arg) c.5707G>A (p.Gly1903Arg) c.5044G>A (p.Gly1682Arg) c.9559G>A (p.Gly3187Arg) | gnomAD v4 |
5 | g.13752206A>C | CA443248683 | DNAH5 | c.10956T>G (p.Val3652=) c.10911T>G (p.Val3637=) c.11064T>G (p.Val3688=) c.9969T>G (p.Val3323=) c.6153T>G (p.Val2051=) c.5706T>G (p.Val1902=) c.5043T>G (p.Val1681=) c.9558T>G (p.Val3186=) | |
5 | g.13752206A>G | CA443248682 | DNAH5 | c.10956T>C (p.Val3652=) c.10911T>C (p.Val3637=) c.11064T>C (p.Val3688=) c.9969T>C (p.Val3323=) c.6153T>C (p.Val2051=) c.5706T>C (p.Val1902=) c.5043T>C (p.Val1681=) c.9558T>C (p.Val3186=) | |
5 | g.13752206A>T | CA443248685 | DNAH5 | c.10956T>A (p.Val3652=) c.10911T>A (p.Val3637=) c.11064T>A (p.Val3688=) c.9969T>A (p.Val3323=) c.6153T>A (p.Val2051=) c.5706T>A (p.Val1902=) c.5043T>A (p.Val1681=) c.9558T>A (p.Val3186=) | |
5 | g.13752207A>C | CA359190080 | DNAH5 | c.10955T>G (p.Val3652Gly) c.10910T>G (p.Val3637Gly) c.11063T>G (p.Val3688Gly) c.9968T>G (p.Val3323Gly) c.6152T>G (p.Val2051Gly) c.5705T>G (p.Val1902Gly) c.5042T>G (p.Val1681Gly) c.9557T>G (p.Val3186Gly) | |
5 | g.13752207A>G | CA359190083 | DNAH5 | c.10955T>C (p.Val3652Ala) c.10910T>C (p.Val3637Ala) c.11063T>C (p.Val3688Ala) c.9968T>C (p.Val3323Ala) c.6152T>C (p.Val2051Ala) c.5705T>C (p.Val1902Ala) c.5042T>C (p.Val1681Ala) c.9557T>C (p.Val3186Ala) | |
5 | g.13752207A>T | CA359190086 | DNAH5 | c.10955T>A (p.Val3652Asp) c.10910T>A (p.Val3637Asp) c.11063T>A (p.Val3688Asp) c.9968T>A (p.Val3323Asp) c.6152T>A (p.Val2051Asp) c.5705T>A (p.Val1902Asp) c.5042T>A (p.Val1681Asp) c.9557T>A (p.Val3186Asp) | |
5 | g.13752208C>A | CA359190090 | DNAH5 | c.10954G>T (p.Val3652Phe) c.10909G>T (p.Val3637Phe) c.11062G>T (p.Val3688Phe) c.9967G>T (p.Val3323Phe) c.6151G>T (p.Val2051Phe) c.5704G>T (p.Val1902Phe) c.5041G>T (p.Val1681Phe) c.9556G>T (p.Val3186Phe) | |
5 | g.13752208C= | CA1528422942 | DNAH5 | c.10954G= (p.Val3652=) c.10909G= (p.Val3637=) c.11062G= (p.Val3688=) c.9967G= (p.Val3323=) c.6151G= (p.Val2051=) c.5704G= (p.Val1902=) c.5041G= (p.Val1681=) c.9556G= (p.Val3186=) | |
5 | g.13752208C>G | CA359190093 | DNAH5 | c.10954G>C (p.Val3652Leu) c.10909G>C (p.Val3637Leu) c.11062G>C (p.Val3688Leu) c.9967G>C (p.Val3323Leu) c.6151G>C (p.Val2051Leu) c.5704G>C (p.Val1902Leu) c.5041G>C (p.Val1681Leu) c.9556G>C (p.Val3186Leu) | |
5 | g.13752208C>T | CA3202091 | DNAH5 | c.10954G>A (p.Val3652Ile) c.10909G>A (p.Val3637Ile) c.11062G>A (p.Val3688Ile) c.9967G>A (p.Val3323Ile) c.6151G>A (p.Val2051Ile) c.5704G>A (p.Val1902Ile) c.5041G>A (p.Val1681Ile) c.9556G>A (p.Val3186Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752209A= | CA1528422943 | DNAH5 | c.10953T= (p.Asp3651=) c.10908T= (p.Asp3636=) c.11061T= (p.Asp3687=) c.9966T= (p.Asp3322=) c.6150T= (p.Asp2050=) c.5703T= (p.Asp1901=) c.5040T= (p.Asp1680=) c.9555T= (p.Asp3185=) | |
5 | g.13752209A>C | CA359190102 | DNAH5 | c.10953T>G (p.Asp3651Glu) c.10908T>G (p.Asp3636Glu) c.11061T>G (p.Asp3687Glu) c.9966T>G (p.Asp3322Glu) c.6150T>G (p.Asp2050Glu) c.5703T>G (p.Asp1901Glu) c.5040T>G (p.Asp1680Glu) c.9555T>G (p.Asp3185Glu) | gnomAD v4 |
5 | g.13752209A>G | CA443248686 | DNAH5 | c.10953T>C (p.Asp3651=) c.10908T>C (p.Asp3636=) c.11061T>C (p.Asp3687=) c.9966T>C (p.Asp3322=) c.6150T>C (p.Asp2050=) c.5703T>C (p.Asp1901=) c.5040T>C (p.Asp1680=) c.9555T>C (p.Asp3185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752209A>T | CA359190105 | DNAH5 | c.10953T>A (p.Asp3651Glu) c.10908T>A (p.Asp3636Glu) c.11061T>A (p.Asp3687Glu) c.9966T>A (p.Asp3322Glu) c.6150T>A (p.Asp2050Glu) c.5703T>A (p.Asp1901Glu) c.5040T>A (p.Asp1680Glu) c.9555T>A (p.Asp3185Glu) | |
5 | g.13752210del | CA2580072140 | DNAH5 | c.10952del (p.Asp3651ValfsTer6) c.10907del (p.Asp3636ValfsTer6) c.11060del (p.Asp3687ValfsTer6) c.9965del (p.Asp3322ValfsTer6) c.6149del (p.Asp2050ValfsTer6) c.5702del (p.Asp1901ValfsTer6) c.5039del (p.Asp1680ValfsTer6) c.9554del (p.Asp3185ValfsTer6) | ClinVar gnomAD v4 |
5 | g.13752210T>A | CA359190118 | DNAH5 | c.10952A>T (p.Asp3651Val) c.10907A>T (p.Asp3636Val) c.11060A>T (p.Asp3687Val) c.9965A>T (p.Asp3322Val) c.6149A>T (p.Asp2050Val) c.5702A>T (p.Asp1901Val) c.5039A>T (p.Asp1680Val) c.9554A>T (p.Asp3185Val) | |
5 | g.13752210T>C | CA359190119 | DNAH5 | c.10952A>G (p.Asp3651Gly) c.10907A>G (p.Asp3636Gly) c.11060A>G (p.Asp3687Gly) c.9965A>G (p.Asp3322Gly) c.6149A>G (p.Asp2050Gly) c.5702A>G (p.Asp1901Gly) c.5039A>G (p.Asp1680Gly) c.9554A>G (p.Asp3185Gly) | gnomAD v4 |
5 | g.13752210T>G | CA359190115 | DNAH5 | c.10952A>C (p.Asp3651Ala) c.10907A>C (p.Asp3636Ala) c.11060A>C (p.Asp3687Ala) c.9965A>C (p.Asp3322Ala) c.6149A>C (p.Asp2050Ala) c.5702A>C (p.Asp1901Ala) c.5039A>C (p.Asp1680Ala) c.9554A>C (p.Asp3185Ala) | |
5 | g.13752211C>A | CA359190124 | DNAH5 | c.10951G>T (p.Asp3651Tyr) c.10906G>T (p.Asp3636Tyr) c.11059G>T (p.Asp3687Tyr) c.9964G>T (p.Asp3322Tyr) c.6148G>T (p.Asp2050Tyr) c.5701G>T (p.Asp1901Tyr) c.5038G>T (p.Asp1680Tyr) c.9553G>T (p.Asp3185Tyr) | COSMIC |
5 | g.13752211C= | CA1528422944 | DNAH5 | c.10951G= (p.Asp3651=) c.10906G= (p.Asp3636=) c.11059G= (p.Asp3687=) c.9964G= (p.Asp3322=) c.6148G= (p.Asp2050=) c.5701G= (p.Asp1901=) c.5038G= (p.Asp1680=) c.9553G= (p.Asp3185=) | |
5 | g.13752211C>G | CA359190126 | DNAH5 | c.10951G>C (p.Asp3651His) c.10906G>C (p.Asp3636His) c.11059G>C (p.Asp3687His) c.9964G>C (p.Asp3322His) c.6148G>C (p.Asp2050His) c.5701G>C (p.Asp1901His) c.5038G>C (p.Asp1680His) c.9553G>C (p.Asp3185His) | |
5 | g.13752211C>T | CA359190127 | DNAH5 | c.10951G>A (p.Asp3651Asn) c.10906G>A (p.Asp3636Asn) c.11059G>A (p.Asp3687Asn) c.9964G>A (p.Asp3322Asn) c.6148G>A (p.Asp2050Asn) c.5701G>A (p.Asp1901Asn) c.5038G>A (p.Asp1680Asn) c.9553G>A (p.Asp3185Asn) | ClinVar dbSNP |
5 | g.13752212T>A | CA359190131 | DNAH5 | c.10950A>T (p.Glu3650Asp) c.10905A>T (p.Glu3635Asp) c.11058A>T (p.Glu3686Asp) c.9963A>T (p.Glu3321Asp) c.6147A>T (p.Glu2049Asp) c.5700A>T (p.Glu1900Asp) c.5037A>T (p.Glu1679Asp) c.9552A>T (p.Glu3184Asp) | |
5 | g.13752212T>C | CA443248687 | DNAH5 | c.10950A>G (p.Glu3650=) c.10905A>G (p.Glu3635=) c.11058A>G (p.Glu3686=) c.9963A>G (p.Glu3321=) c.6147A>G (p.Glu2049=) c.5700A>G (p.Glu1900=) c.5037A>G (p.Glu1679=) c.9552A>G (p.Glu3184=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752212T>G | CA359190133 | DNAH5 | c.10950A>C (p.Glu3650Asp) c.10905A>C (p.Glu3635Asp) c.11058A>C (p.Glu3686Asp) c.9963A>C (p.Glu3321Asp) c.6147A>C (p.Glu2049Asp) c.5700A>C (p.Glu1900Asp) c.5037A>C (p.Glu1679Asp) c.9552A>C (p.Glu3184Asp) | |
5 | g.13752212T= | CA1528422945 | DNAH5 | c.10950A= (p.Glu3650=) c.10905A= (p.Glu3635=) c.11058A= (p.Glu3686=) c.9963A= (p.Glu3321=) c.6147A= (p.Glu2049=) c.5700A= (p.Glu1900=) c.5037A= (p.Glu1679=) c.9552A= (p.Glu3184=) | |
5 | g.13752213T>A | CA359190135 | DNAH5 | c.10949A>T (p.Glu3650Val) c.10904A>T (p.Glu3635Val) c.11057A>T (p.Glu3686Val) c.9962A>T (p.Glu3321Val) c.6146A>T (p.Glu2049Val) c.5699A>T (p.Glu1900Val) c.5036A>T (p.Glu1679Val) c.9551A>T (p.Glu3184Val) | |
5 | g.13752213T>C | CA359190137 | DNAH5 | c.10949A>G (p.Glu3650Gly) c.10904A>G (p.Glu3635Gly) c.11057A>G (p.Glu3686Gly) c.9962A>G (p.Glu3321Gly) c.6146A>G (p.Glu2049Gly) c.5699A>G (p.Glu1900Gly) c.5036A>G (p.Glu1679Gly) c.9551A>G (p.Glu3184Gly) | gnomAD v4 COSMIC |
5 | g.13752213T>G | CA359190140 | DNAH5 | c.10949A>C (p.Glu3650Ala) c.10904A>C (p.Glu3635Ala) c.11057A>C (p.Glu3686Ala) c.9962A>C (p.Glu3321Ala) c.6146A>C (p.Glu2049Ala) c.5699A>C (p.Glu1900Ala) c.5036A>C (p.Glu1679Ala) c.9551A>C (p.Glu3184Ala) | dbSNP |
5 | g.13752214C>A | CA359190142 | DNAH5 | c.10948G>T (p.Glu3650Ter) c.10903G>T (p.Glu3635Ter) c.11056G>T (p.Glu3686Ter) c.9961G>T (p.Glu3321Ter) c.6145G>T (p.Glu2049Ter) c.5698G>T (p.Glu1900Ter) c.5035G>T (p.Glu1679Ter) c.9550G>T (p.Glu3184Ter) | |
5 | g.13752214C= | CA1528422946 | DNAH5 | c.10948G= (p.Glu3650=) c.10903G= (p.Glu3635=) c.11056G= (p.Glu3686=) c.9961G= (p.Glu3321=) c.6145G= (p.Glu2049=) c.5698G= (p.Glu1900=) c.5035G= (p.Glu1679=) c.9550G= (p.Glu3184=) | |
5 | g.13752214C>G | CA359190145 | DNAH5 | c.10948G>C (p.Glu3650Gln) c.10903G>C (p.Glu3635Gln) c.11056G>C (p.Glu3686Gln) c.9961G>C (p.Glu3321Gln) c.6145G>C (p.Glu2049Gln) c.5698G>C (p.Glu1900Gln) c.5035G>C (p.Glu1679Gln) c.9550G>C (p.Glu3184Gln) | |
5 | g.13752214C>T | CA3202092 | DNAH5 | c.10948G>A (p.Glu3650Lys) c.10903G>A (p.Glu3635Lys) c.11056G>A (p.Glu3686Lys) c.9961G>A (p.Glu3321Lys) c.6145G>A (p.Glu2049Lys) c.5698G>A (p.Glu1900Lys) c.5035G>A (p.Glu1679Lys) c.9550G>A (p.Glu3184Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752215A>C | CA359190155 | DNAH5 | c.10947T>G (p.Ile3649Met) c.10902T>G (p.Ile3634Met) c.11055T>G (p.Ile3685Met) c.9960T>G (p.Ile3320Met) c.6144T>G (p.Ile2048Met) c.5697T>G (p.Ile1899Met) c.5034T>G (p.Ile1678Met) c.9549T>G (p.Ile3183Met) | |
5 | g.13752215A>G | CA443248688 | DNAH5 | c.10947T>C (p.Ile3649=) c.10902T>C (p.Ile3634=) c.11055T>C (p.Ile3685=) c.9960T>C (p.Ile3320=) c.6144T>C (p.Ile2048=) c.5697T>C (p.Ile1899=) c.5034T>C (p.Ile1678=) c.9549T>C (p.Ile3183=) | |
5 | g.13752215A>T | CA443248689 | DNAH5 | c.10947T>A (p.Ile3649=) c.10902T>A (p.Ile3634=) c.11055T>A (p.Ile3685=) c.9960T>A (p.Ile3320=) c.6144T>A (p.Ile2048=) c.5697T>A (p.Ile1899=) c.5034T>A (p.Ile1678=) c.9549T>A (p.Ile3183=) | |
5 | g.13752216A>C | CA359190164 | DNAH5 | c.10946T>G (p.Ile3649Ser) c.10901T>G (p.Ile3634Ser) c.11054T>G (p.Ile3685Ser) c.9959T>G (p.Ile3320Ser) c.6143T>G (p.Ile2048Ser) c.5696T>G (p.Ile1899Ser) c.5033T>G (p.Ile1678Ser) c.9548T>G (p.Ile3183Ser) | ClinVar gnomAD v4 |
5 | g.13752216A>G | CA359190157 | DNAH5 | c.10946T>C (p.Ile3649Thr) c.10901T>C (p.Ile3634Thr) c.11054T>C (p.Ile3685Thr) c.9959T>C (p.Ile3320Thr) c.6143T>C (p.Ile2048Thr) c.5696T>C (p.Ile1899Thr) c.5033T>C (p.Ile1678Thr) c.9548T>C (p.Ile3183Thr) | |
5 | g.13752216A>T | CA359190159 | DNAH5 | c.10946T>A (p.Ile3649Asn) c.10901T>A (p.Ile3634Asn) c.11054T>A (p.Ile3685Asn) c.9959T>A (p.Ile3320Asn) c.6143T>A (p.Ile2048Asn) c.5696T>A (p.Ile1899Asn) c.5033T>A (p.Ile1678Asn) c.9548T>A (p.Ile3183Asn) | |
5 | g.13752217T>A | CA359190167 | DNAH5 | c.10945A>T (p.Ile3649Phe) c.10900A>T (p.Ile3634Phe) c.11053A>T (p.Ile3685Phe) c.9958A>T (p.Ile3320Phe) c.6142A>T (p.Ile2048Phe) c.5695A>T (p.Ile1899Phe) c.5032A>T (p.Ile1678Phe) c.9547A>T (p.Ile3183Phe) | |
5 | g.13752217T>C | CA3202093 | DNAH5 | c.10945A>G (p.Ile3649Val) c.10900A>G (p.Ile3634Val) c.11053A>G (p.Ile3685Val) c.9958A>G (p.Ile3320Val) c.6142A>G (p.Ile2048Val) c.5695A>G (p.Ile1899Val) c.5032A>G (p.Ile1678Val) c.9547A>G (p.Ile3183Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13752217T>G | CA359190172 | DNAH5 | c.10945A>C (p.Ile3649Leu) c.10900A>C (p.Ile3634Leu) c.11053A>C (p.Ile3685Leu) c.9958A>C (p.Ile3320Leu) c.6142A>C (p.Ile2048Leu) c.5695A>C (p.Ile1899Leu) c.5032A>C (p.Ile1678Leu) c.9547A>C (p.Ile3183Leu) | |
5 | g.13752217T= | CA1528422947 | DNAH5 | c.10945A= (p.Ile3649=) c.10900A= (p.Ile3634=) c.11053A= (p.Ile3685=) c.9958A= (p.Ile3320=) c.6142A= (p.Ile2048=) c.5695A= (p.Ile1899=) c.5032A= (p.Ile1678=) c.9547A= (p.Ile3183=) | |
5 | g.13752218A>C | CA443248690 | DNAH5 | c.10944T>G (p.Leu3648=) c.10899T>G (p.Leu3633=) c.11052T>G (p.Leu3684=) c.9957T>G (p.Leu3319=) c.6141T>G (p.Leu2047=) c.5694T>G (p.Leu1898=) c.5031T>G (p.Leu1677=) c.9546T>G (p.Leu3182=) | |
5 | g.13752218A>G | CA443248691 | DNAH5 | c.10944T>C (p.Leu3648=) c.10899T>C (p.Leu3633=) c.11052T>C (p.Leu3684=) c.9957T>C (p.Leu3319=) c.6141T>C (p.Leu2047=) c.5694T>C (p.Leu1898=) c.5031T>C (p.Leu1677=) c.9546T>C (p.Leu3182=) | |
5 | g.13752218A>T | CA443248692 | DNAH5 | c.10944T>A (p.Leu3648=) c.10899T>A (p.Leu3633=) c.11052T>A (p.Leu3684=) c.9957T>A (p.Leu3319=) c.6141T>A (p.Leu2047=) c.5694T>A (p.Leu1898=) c.5031T>A (p.Leu1677=) c.9546T>A (p.Leu3182=) | |
5 | g.13752219A>C | CA359190175 | DNAH5 | c.10943T>G (p.Leu3648Arg) c.10898T>G (p.Leu3633Arg) c.11051T>G (p.Leu3684Arg) c.9956T>G (p.Leu3319Arg) c.6140T>G (p.Leu2047Arg) c.5693T>G (p.Leu1898Arg) c.5030T>G (p.Leu1677Arg) c.9545T>G (p.Leu3182Arg) | |
5 | g.13752219A>G | CA359190178 | DNAH5 | c.10943T>C (p.Leu3648Pro) c.10898T>C (p.Leu3633Pro) c.11051T>C (p.Leu3684Pro) c.9956T>C (p.Leu3319Pro) c.6140T>C (p.Leu2047Pro) c.5693T>C (p.Leu1898Pro) c.5030T>C (p.Leu1677Pro) c.9545T>C (p.Leu3182Pro) | |
5 | g.13752219A>T | CA359190181 | DNAH5 | c.10943T>A (p.Leu3648His) c.10898T>A (p.Leu3633His) c.11051T>A (p.Leu3684His) c.9956T>A (p.Leu3319His) c.6140T>A (p.Leu2047His) c.5693T>A (p.Leu1898His) c.5030T>A (p.Leu1677His) c.9545T>A (p.Leu3182His) | |
5 | g.13752220G>A | CA359190184 | DNAH5 | c.10942C>T (p.Leu3648Phe) c.10897C>T (p.Leu3633Phe) c.11050C>T (p.Leu3684Phe) c.9955C>T (p.Leu3319Phe) c.6139C>T (p.Leu2047Phe) c.5692C>T (p.Leu1898Phe) c.5029C>T (p.Leu1677Phe) c.9544C>T (p.Leu3182Phe) | |
5 | g.13752220G>C | CA359190186 | DNAH5 | c.10942C>G (p.Leu3648Val) c.10897C>G (p.Leu3633Val) c.11050C>G (p.Leu3684Val) c.9955C>G (p.Leu3319Val) c.6139C>G (p.Leu2047Val) c.5692C>G (p.Leu1898Val) c.5029C>G (p.Leu1677Val) c.9544C>G (p.Leu3182Val) | |
5 | g.13752220G>T | CA359190187 | DNAH5 | c.10942C>A (p.Leu3648Ile) c.10897C>A (p.Leu3633Ile) c.11050C>A (p.Leu3684Ile) c.9955C>A (p.Leu3319Ile) c.6139C>A (p.Leu2047Ile) c.5692C>A (p.Leu1898Ile) c.5029C>A (p.Leu1677Ile) c.9544C>A (p.Leu3182Ile) | |
5 | g.13752221C>A | CA113917777 | DNAH5 | c.10941G>T (p.Leu3647Phe) c.10896G>T (p.Leu3632Phe) c.11049G>T (p.Leu3683Phe) c.9954G>T (p.Leu3318Phe) c.6138G>T (p.Leu2046Phe) c.5691G>T (p.Leu1897Phe) c.5028G>T (p.Leu1676Phe) c.9543G>T (p.Leu3181Phe) | dbSNP gnomAD v4 |
5 | g.13752221C= | CA1528422948 | DNAH5 | c.10941G= (p.Leu3647=) c.10896G= (p.Leu3632=) c.11049G= (p.Leu3683=) c.9954G= (p.Leu3318=) c.6138G= (p.Leu2046=) c.5691G= (p.Leu1897=) c.5028G= (p.Leu1676=) c.9543G= (p.Leu3181=) | |
5 | g.13752221C>G | CA359190190 | DNAH5 | c.10941G>C (p.Leu3647Phe) c.10896G>C (p.Leu3632Phe) c.11049G>C (p.Leu3683Phe) c.9954G>C (p.Leu3318Phe) c.6138G>C (p.Leu2046Phe) c.5691G>C (p.Leu1897Phe) c.5028G>C (p.Leu1676Phe) c.9543G>C (p.Leu3181Phe) | dbSNP |
5 | g.13752221C>T | CA443248693 | DNAH5 | c.10941G>A (p.Leu3647=) c.10896G>A (p.Leu3632=) c.11049G>A (p.Leu3683=) c.9954G>A (p.Leu3318=) c.6138G>A (p.Leu2046=) c.5691G>A (p.Leu1897=) c.5028G>A (p.Leu1676=) c.9543G>A (p.Leu3181=) | |
5 | g.13752222A= | CA1528422949 | DNAH5 | c.10940T= (p.Leu3647=) c.10895T= (p.Leu3632=) c.11048T= (p.Leu3683=) c.9953T= (p.Leu3318=) c.6137T= (p.Leu2046=) c.5690T= (p.Leu1897=) c.5027T= (p.Leu1676=) c.9542T= (p.Leu3181=) | |
5 | g.13752222A>C | CA359190200 | DNAH5 | c.10940T>G (p.Leu3647Trp) c.10895T>G (p.Leu3632Trp) c.11048T>G (p.Leu3683Trp) c.9953T>G (p.Leu3318Trp) c.6137T>G (p.Leu2046Trp) c.5690T>G (p.Leu1897Trp) c.5027T>G (p.Leu1676Trp) c.9542T>G (p.Leu3181Trp) | |
5 | g.13752222A>G | CA359190197 | DNAH5 | c.10940T>C (p.Leu3647Ser) c.10895T>C (p.Leu3632Ser) c.11048T>C (p.Leu3683Ser) c.9953T>C (p.Leu3318Ser) c.6137T>C (p.Leu2046Ser) c.5690T>C (p.Leu1897Ser) c.5027T>C (p.Leu1676Ser) c.9542T>C (p.Leu3181Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752222A>T | CA359190195 | DNAH5 | c.10940T>A (p.Leu3647Ter) c.10895T>A (p.Leu3632Ter) c.11048T>A (p.Leu3683Ter) c.9953T>A (p.Leu3318Ter) c.6137T>A (p.Leu2046Ter) c.5690T>A (p.Leu1897Ter) c.5027T>A (p.Leu1676Ter) c.9542T>A (p.Leu3181Ter) | |
5 | g.13752223A>C | CA359190202 | DNAH5 | c.10939T>G (p.Leu3647Val) c.10894T>G (p.Leu3632Val) c.11047T>G (p.Leu3683Val) c.9952T>G (p.Leu3318Val) c.6136T>G (p.Leu2046Val) c.5689T>G (p.Leu1897Val) c.5026T>G (p.Leu1676Val) c.9541T>G (p.Leu3181Val) | gnomAD v4 |
5 | g.13752223A>G | CA443248694 | DNAH5 | c.10939T>C (p.Leu3647=) c.10894T>C (p.Leu3632=) c.11047T>C (p.Leu3683=) c.9952T>C (p.Leu3318=) c.6136T>C (p.Leu2046=) c.5689T>C (p.Leu1897=) c.5026T>C (p.Leu1676=) c.9541T>C (p.Leu3181=) | |
5 | g.13752223A>T | CA359190205 | DNAH5 | c.10939T>A (p.Leu3647Met) c.10894T>A (p.Leu3632Met) c.11047T>A (p.Leu3683Met) c.9952T>A (p.Leu3318Met) c.6136T>A (p.Leu2046Met) c.5689T>A (p.Leu1897Met) c.5026T>A (p.Leu1676Met) c.9541T>A (p.Leu3181Met) | |
5 | g.13752224A>C | CA443248695 | DNAH5 | c.10938T>G (p.Pro3646=) c.10893T>G (p.Pro3631=) c.11046T>G (p.Pro3682=) c.9951T>G (p.Pro3317=) c.6135T>G (p.Pro2045=) c.5688T>G (p.Pro1896=) c.5025T>G (p.Pro1675=) c.9540T>G (p.Pro3180=) | ClinVar |
5 | g.13752224A>G | CA443248696 | DNAH5 | c.10938T>C (p.Pro3646=) c.10893T>C (p.Pro3631=) c.11046T>C (p.Pro3682=) c.9951T>C (p.Pro3317=) c.6135T>C (p.Pro2045=) c.5688T>C (p.Pro1896=) c.5025T>C (p.Pro1675=) c.9540T>C (p.Pro3180=) | |
5 | g.13752224A>T | CA443248697 | DNAH5 | c.10938T>A (p.Pro3646=) c.10893T>A (p.Pro3631=) c.11046T>A (p.Pro3682=) c.9951T>A (p.Pro3317=) c.6135T>A (p.Pro2045=) c.5688T>A (p.Pro1896=) c.5025T>A (p.Pro1675=) c.9540T>A (p.Pro3180=) | |
5 | g.13752225G>A | CA359190210 | DNAH5 | c.10937C>T (p.Pro3646Leu) c.10892C>T (p.Pro3631Leu) c.11045C>T (p.Pro3682Leu) c.9950C>T (p.Pro3317Leu) c.6134C>T (p.Pro2045Leu) c.5687C>T (p.Pro1896Leu) c.5024C>T (p.Pro1675Leu) c.9539C>T (p.Pro3180Leu) | |
5 | g.13752225G>C | CA359190211 | DNAH5 | c.10937C>G (p.Pro3646Arg) c.10892C>G (p.Pro3631Arg) c.11045C>G (p.Pro3682Arg) c.9950C>G (p.Pro3317Arg) c.6134C>G (p.Pro2045Arg) c.5687C>G (p.Pro1896Arg) c.5024C>G (p.Pro1675Arg) c.9539C>G (p.Pro3180Arg) | |
5 | g.13752225G= | CA1528422950 | DNAH5 | c.10937C= (p.Pro3646=) c.10892C= (p.Pro3631=) c.11045C= (p.Pro3682=) c.9950C= (p.Pro3317=) c.6134C= (p.Pro2045=) c.5687C= (p.Pro1896=) c.5024C= (p.Pro1675=) c.9539C= (p.Pro3180=) | |
5 | g.13752225G>T | CA113917787 | DNAH5 | c.10937C>A (p.Pro3646His) c.10892C>A (p.Pro3631His) c.11045C>A (p.Pro3682His) c.9950C>A (p.Pro3317His) c.6134C>A (p.Pro2045His) c.5687C>A (p.Pro1896His) c.5024C>A (p.Pro1675His) c.9539C>A (p.Pro3180His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752226G>A | CA359190216 | DNAH5 | c.10936C>T (p.Pro3646Ser) c.10891C>T (p.Pro3631Ser) c.11044C>T (p.Pro3682Ser) c.9949C>T (p.Pro3317Ser) c.6133C>T (p.Pro2045Ser) c.5686C>T (p.Pro1896Ser) c.5023C>T (p.Pro1675Ser) c.9538C>T (p.Pro3180Ser) | dbSNP gnomAD v4 COSMIC |
5 | g.13752226G>C | CA359190221 | DNAH5 | c.10936C>G (p.Pro3646Ala) c.10891C>G (p.Pro3631Ala) c.11044C>G (p.Pro3682Ala) c.9949C>G (p.Pro3317Ala) c.6133C>G (p.Pro2045Ala) c.5686C>G (p.Pro1896Ala) c.5023C>G (p.Pro1675Ala) c.9538C>G (p.Pro3180Ala) | |
5 | g.13752226G= | CA1528422951 | DNAH5 | c.10936C= (p.Pro3646=) c.10891C= (p.Pro3631=) c.11044C= (p.Pro3682=) c.9949C= (p.Pro3317=) c.6133C= (p.Pro2045=) c.5686C= (p.Pro1896=) c.5023C= (p.Pro1675=) c.9538C= (p.Pro3180=) | |
5 | g.13752226G>T | CA359190230 | DNAH5 | c.10936C>A (p.Pro3646Thr) c.10891C>A (p.Pro3631Thr) c.11044C>A (p.Pro3682Thr) c.9949C>A (p.Pro3317Thr) c.6133C>A (p.Pro2045Thr) c.5686C>A (p.Pro1896Thr) c.5023C>A (p.Pro1675Thr) c.9538C>A (p.Pro3180Thr) | gnomAD v4 |
5 | g.13752227C>A | CA3202094 | DNAH5 | c.10935G>T (p.Arg3645Ser) c.10890G>T (p.Arg3630Ser) c.11043G>T (p.Arg3681Ser) c.9948G>T (p.Arg3316Ser) c.6132G>T (p.Arg2044Ser) c.5685G>T (p.Arg1895Ser) c.5022G>T (p.Arg1674Ser) c.9537G>T (p.Arg3179Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752227C= | CA1528422952 | DNAH5 | c.10935G= (p.Arg3645=) c.10890G= (p.Arg3630=) c.11043G= (p.Arg3681=) c.9948G= (p.Arg3316=) c.6132G= (p.Arg2044=) c.5685G= (p.Arg1895=) c.5022G= (p.Arg1674=) c.9537G= (p.Arg3179=) | |
5 | g.13752227C>G | CA359190234 | DNAH5 | c.10935G>C (p.Arg3645Ser) c.10890G>C (p.Arg3630Ser) c.11043G>C (p.Arg3681Ser) c.9948G>C (p.Arg3316Ser) c.6132G>C (p.Arg2044Ser) c.5685G>C (p.Arg1895Ser) c.5022G>C (p.Arg1674Ser) c.9537G>C (p.Arg3179Ser) | |
5 | g.13752227C>T | CA443248698 | DNAH5 | c.10935G>A (p.Arg3645=) c.10890G>A (p.Arg3630=) c.11043G>A (p.Arg3681=) c.9948G>A (p.Arg3316=) c.6132G>A (p.Arg2044=) c.5685G>A (p.Arg1895=) c.5022G>A (p.Arg1674=) c.9537G>A (p.Arg3179=) | gnomAD v4 COSMIC |
5 | g.13752228C>A | CA359190237 | DNAH5 | c.10934G>T (p.Arg3645Met) c.10889G>T (p.Arg3630Met) c.11042G>T (p.Arg3681Met) c.9947G>T (p.Arg3316Met) c.6131G>T (p.Arg2044Met) c.5684G>T (p.Arg1895Met) c.5021G>T (p.Arg1674Met) c.9536G>T (p.Arg3179Met) | |
5 | g.13752228C>G | CA359190238 | DNAH5 | c.10934G>C (p.Arg3645Thr) c.10889G>C (p.Arg3630Thr) c.11042G>C (p.Arg3681Thr) c.9947G>C (p.Arg3316Thr) c.6131G>C (p.Arg2044Thr) c.5684G>C (p.Arg1895Thr) c.5021G>C (p.Arg1674Thr) c.9536G>C (p.Arg3179Thr) | |
5 | g.13752228C>T | CA359190239 | DNAH5 | c.10934G>A (p.Arg3645Lys) c.10889G>A (p.Arg3630Lys) c.11042G>A (p.Arg3681Lys) c.9947G>A (p.Arg3316Lys) c.6131G>A (p.Arg2044Lys) c.5684G>A (p.Arg1895Lys) c.5021G>A (p.Arg1674Lys) c.9536G>A (p.Arg3179Lys) | |
5 | g.13752229T>A | CA359190240 | DNAH5 | c.10933A>T (p.Arg3645Trp) c.10888A>T (p.Arg3630Trp) c.11041A>T (p.Arg3681Trp) c.9946A>T (p.Arg3316Trp) c.6130A>T (p.Arg2044Trp) c.5683A>T (p.Arg1895Trp) c.5020A>T (p.Arg1674Trp) c.9535A>T (p.Arg3179Trp) | |
5 | g.13752229T>C | CA359190242 | DNAH5 | c.10933A>G (p.Arg3645Gly) c.10888A>G (p.Arg3630Gly) c.11041A>G (p.Arg3681Gly) c.9946A>G (p.Arg3316Gly) c.6130A>G (p.Arg2044Gly) c.5683A>G (p.Arg1895Gly) c.5020A>G (p.Arg1674Gly) c.9535A>G (p.Arg3179Gly) | COSMIC |
5 | g.13752229T>G | CA443248699 | DNAH5 | c.10933A>C (p.Arg3645=) c.10888A>C (p.Arg3630=) c.11041A>C (p.Arg3681=) c.9946A>C (p.Arg3316=) c.6130A>C (p.Arg2044=) c.5683A>C (p.Arg1895=) c.5020A>C (p.Arg1674=) c.9535A>C (p.Arg3179=) | gnomAD v4 |
5 | g.13752230del | CA2580072141 | DNAH5 | c.10933del (p.Arg3645GlyfsTer12) c.10888del (p.Arg3630GlyfsTer12) c.11041del (p.Arg3681GlyfsTer12) c.9946del (p.Arg3316GlyfsTer12) c.6130del (p.Arg2044GlyfsTer12) c.5683del (p.Arg1895GlyfsTer12) c.5020del (p.Arg1674GlyfsTer12) c.9535del (p.Arg3179GlyfsTer12) | ClinVar |
5 | g.13752230T>A | CA443248702 | DNAH5 | c.10932A>T (p.Gly3644=) c.10887A>T (p.Gly3629=) c.11040A>T (p.Gly3680=) c.9945A>T (p.Gly3315=) c.6129A>T (p.Gly2043=) c.5682A>T (p.Gly1894=) c.5019A>T (p.Gly1673=) c.9534A>T (p.Gly3178=) | |
5 | g.13752230T>C | CA443248701 | DNAH5 | c.10932A>G (p.Gly3644=) c.10887A>G (p.Gly3629=) c.11040A>G (p.Gly3680=) c.9945A>G (p.Gly3315=) c.6129A>G (p.Gly2043=) c.5682A>G (p.Gly1894=) c.5019A>G (p.Gly1673=) c.9534A>G (p.Gly3178=) | |
5 | g.13752230T>G | CA443248700 | DNAH5 | c.10932A>C (p.Gly3644=) c.10887A>C (p.Gly3629=) c.11040A>C (p.Gly3680=) c.9945A>C (p.Gly3315=) c.6129A>C (p.Gly2043=) c.5682A>C (p.Gly1894=) c.5019A>C (p.Gly1673=) c.9534A>C (p.Gly3178=) | |
5 | g.13752231C>A | CA359190243 | DNAH5 | c.10931G>T (p.Gly3644Val) c.10886G>T (p.Gly3629Val) c.11039G>T (p.Gly3680Val) c.9944G>T (p.Gly3315Val) c.6128G>T (p.Gly2043Val) c.5681G>T (p.Gly1894Val) c.5018G>T (p.Gly1673Val) c.9533G>T (p.Gly3178Val) | |
5 | g.13752231C>G | CA359190250 | DNAH5 | c.10931G>C (p.Gly3644Ala) c.10886G>C (p.Gly3629Ala) c.11039G>C (p.Gly3680Ala) c.9944G>C (p.Gly3315Ala) c.6128G>C (p.Gly2043Ala) c.5681G>C (p.Gly1894Ala) c.5018G>C (p.Gly1673Ala) c.9533G>C (p.Gly3178Ala) | |
5 | g.13752231C>T | CA359190246 | DNAH5 | c.10931G>A (p.Gly3644Glu) c.10886G>A (p.Gly3629Glu) c.11039G>A (p.Gly3680Glu) c.9944G>A (p.Gly3315Glu) c.6128G>A (p.Gly2043Glu) c.5681G>A (p.Gly1894Glu) c.5018G>A (p.Gly1673Glu) c.9533G>A (p.Gly3178Glu) | |
5 | g.13752232C>A | CA359190253 | DNAH5 | c.10930G>T (p.Gly3644Ter) c.10885G>T (p.Gly3629Ter) c.11038G>T (p.Gly3680Ter) c.9943G>T (p.Gly3315Ter) c.6127G>T (p.Gly2043Ter) c.5680G>T (p.Gly1894Ter) c.5017G>T (p.Gly1673Ter) c.9532G>T (p.Gly3178Ter) | ClinVar dbSNP COSMIC |
5 | g.13752232C= | CA1528422953 | DNAH5 | c.10930G= (p.Gly3644=) c.10885G= (p.Gly3629=) c.11038G= (p.Gly3680=) c.9943G= (p.Gly3315=) c.6127G= (p.Gly2043=) c.5680G= (p.Gly1894=) c.5017G= (p.Gly1673=) c.9532G= (p.Gly3178=) | |
5 | g.13752232C>G | CA359190255 | DNAH5 | c.10930G>C (p.Gly3644Arg) c.10885G>C (p.Gly3629Arg) c.11038G>C (p.Gly3680Arg) c.9943G>C (p.Gly3315Arg) c.6127G>C (p.Gly2043Arg) c.5680G>C (p.Gly1894Arg) c.5017G>C (p.Gly1673Arg) c.9532G>C (p.Gly3178Arg) | |
5 | g.13752232C>T | CA359190257 | DNAH5 | c.10930G>A (p.Gly3644Arg) c.10885G>A (p.Gly3629Arg) c.11038G>A (p.Gly3680Arg) c.9943G>A (p.Gly3315Arg) c.6127G>A (p.Gly2043Arg) c.5680G>A (p.Gly1894Arg) c.5017G>A (p.Gly1673Arg) c.9532G>A (p.Gly3178Arg) | |
5 | g.13752233A>C | CA443248703 | DNAH5 | c.10929T>G (p.Leu3643=) c.10884T>G (p.Leu3628=) c.11037T>G (p.Leu3679=) c.9942T>G (p.Leu3314=) c.6126T>G (p.Leu2042=) c.5679T>G (p.Leu1893=) c.5016T>G (p.Leu1672=) c.9531T>G (p.Leu3177=) | |
5 | g.13752233A>G | CA443248705 | DNAH5 | c.10929T>C (p.Leu3643=) c.10884T>C (p.Leu3628=) c.11037T>C (p.Leu3679=) c.9942T>C (p.Leu3314=) c.6126T>C (p.Leu2042=) c.5679T>C (p.Leu1893=) c.5016T>C (p.Leu1672=) c.9531T>C (p.Leu3177=) | |
5 | g.13752233A>T | CA443248704 | DNAH5 | c.10929T>A (p.Leu3643=) c.10884T>A (p.Leu3628=) c.11037T>A (p.Leu3679=) c.9942T>A (p.Leu3314=) c.6126T>A (p.Leu2042=) c.5679T>A (p.Leu1893=) c.5016T>A (p.Leu1672=) c.9531T>A (p.Leu3177=) | |
5 | g.13752234A>C | CA359190263 | DNAH5 | c.10928T>G (p.Leu3643Arg) c.10883T>G (p.Leu3628Arg) c.11036T>G (p.Leu3679Arg) c.9941T>G (p.Leu3314Arg) c.6125T>G (p.Leu2042Arg) c.5678T>G (p.Leu1893Arg) c.5015T>G (p.Leu1672Arg) c.9530T>G (p.Leu3177Arg) | |
5 | g.13752234A>G | CA359190264 | DNAH5 | c.10928T>C (p.Leu3643Pro) c.10883T>C (p.Leu3628Pro) c.11036T>C (p.Leu3679Pro) c.9941T>C (p.Leu3314Pro) c.6125T>C (p.Leu2042Pro) c.5678T>C (p.Leu1893Pro) c.5015T>C (p.Leu1672Pro) c.9530T>C (p.Leu3177Pro) | |
5 | g.13752234A>T | CA359190267 | DNAH5 | c.10928T>A (p.Leu3643His) c.10883T>A (p.Leu3628His) c.11036T>A (p.Leu3679His) c.9941T>A (p.Leu3314His) c.6125T>A (p.Leu2042His) c.5678T>A (p.Leu1893His) c.5015T>A (p.Leu1672His) c.9530T>A (p.Leu3177His) | |
5 | g.13752235G>A | CA359190271 | DNAH5 | c.10927C>T (p.Leu3643Phe) c.10882C>T (p.Leu3628Phe) c.11035C>T (p.Leu3679Phe) c.9940C>T (p.Leu3314Phe) c.6124C>T (p.Leu2042Phe) c.5677C>T (p.Leu1893Phe) c.5014C>T (p.Leu1672Phe) c.9529C>T (p.Leu3177Phe) | |
5 | g.13752235G>C | CA359190273 | DNAH5 | c.10927C>G (p.Leu3643Val) c.10882C>G (p.Leu3628Val) c.11035C>G (p.Leu3679Val) c.9940C>G (p.Leu3314Val) c.6124C>G (p.Leu2042Val) c.5677C>G (p.Leu1893Val) c.5014C>G (p.Leu1672Val) c.9529C>G (p.Leu3177Val) | COSMIC |
5 | g.13752235G>T | CA359190276 | DNAH5 | c.10927C>A (p.Leu3643Ile) c.10882C>A (p.Leu3628Ile) c.11035C>A (p.Leu3679Ile) c.9940C>A (p.Leu3314Ile) c.6124C>A (p.Leu2042Ile) c.5677C>A (p.Leu1893Ile) c.5014C>A (p.Leu1672Ile) c.9529C>A (p.Leu3177Ile) | |
5 | g.13752236A= | CA1528422954 | DNAH5 | c.10926T= (p.Ser3642=) c.10881T= (p.Ser3627=) c.11034T= (p.Ser3678=) c.9939T= (p.Ser3313=) c.6123T= (p.Ser2041=) c.5676T= (p.Ser1892=) c.5013T= (p.Ser1671=) c.9528T= (p.Ser3176=) | |
5 | g.13752236A>C | CA443248706 | DNAH5 | c.10926T>G (p.Ser3642=) c.10881T>G (p.Ser3627=) c.11034T>G (p.Ser3678=) c.9939T>G (p.Ser3313=) c.6123T>G (p.Ser2041=) c.5676T>G (p.Ser1892=) c.5013T>G (p.Ser1671=) c.9528T>G (p.Ser3176=) | |
5 | g.13752236A>G | CA3202095 | DNAH5 | c.10926T>C (p.Ser3642=) c.10881T>C (p.Ser3627=) c.11034T>C (p.Ser3678=) c.9939T>C (p.Ser3313=) c.6123T>C (p.Ser2041=) c.5676T>C (p.Ser1892=) c.5013T>C (p.Ser1671=) c.9528T>C (p.Ser3176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752236A>T | CA443248707 | DNAH5 | c.10926T>A (p.Ser3642=) c.10881T>A (p.Ser3627=) c.11034T>A (p.Ser3678=) c.9939T>A (p.Ser3313=) c.6123T>A (p.Ser2041=) c.5676T>A (p.Ser1892=) c.5013T>A (p.Ser1671=) c.9528T>A (p.Ser3176=) | |
5 | g.13752237G>A | CA3202096 | DNAH5 | c.10925C>T (p.Ser3642Phe) c.10880C>T (p.Ser3627Phe) c.11033C>T (p.Ser3678Phe) c.9938C>T (p.Ser3313Phe) c.6122C>T (p.Ser2041Phe) c.5675C>T (p.Ser1892Phe) c.5012C>T (p.Ser1671Phe) c.9527C>T (p.Ser3176Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752237G>C | CA359190283 | DNAH5 | c.10925C>G (p.Ser3642Cys) c.10880C>G (p.Ser3627Cys) c.11033C>G (p.Ser3678Cys) c.9938C>G (p.Ser3313Cys) c.6122C>G (p.Ser2041Cys) c.5675C>G (p.Ser1892Cys) c.5012C>G (p.Ser1671Cys) c.9527C>G (p.Ser3176Cys) | |
5 | g.13752237G= | CA1528422955 | DNAH5 | c.10925C= (p.Ser3642=) c.10880C= (p.Ser3627=) c.11033C= (p.Ser3678=) c.9938C= (p.Ser3313=) c.6122C= (p.Ser2041=) c.5675C= (p.Ser1892=) c.5012C= (p.Ser1671=) c.9527C= (p.Ser3176=) | |
5 | g.13752237G>T | CA359190280 | DNAH5 | c.10925C>A (p.Ser3642Tyr) c.10880C>A (p.Ser3627Tyr) c.11033C>A (p.Ser3678Tyr) c.9938C>A (p.Ser3313Tyr) c.6122C>A (p.Ser2041Tyr) c.5675C>A (p.Ser1892Tyr) c.5012C>A (p.Ser1671Tyr) c.9527C>A (p.Ser3176Tyr) | |
5 | g.13752238A= | CA1528422956 | DNAH5 | c.10924T= (p.Ser3642=) c.10879T= (p.Ser3627=) c.11032T= (p.Ser3678=) c.9937T= (p.Ser3313=) c.6121T= (p.Ser2041=) c.5674T= (p.Ser1892=) c.5011T= (p.Ser1671=) c.9526T= (p.Ser3176=) | |
5 | g.13752238A>C | CA359190284 | DNAH5 | c.10924T>G (p.Ser3642Ala) c.10879T>G (p.Ser3627Ala) c.11032T>G (p.Ser3678Ala) c.9937T>G (p.Ser3313Ala) c.6121T>G (p.Ser2041Ala) c.5674T>G (p.Ser1892Ala) c.5011T>G (p.Ser1671Ala) c.9526T>G (p.Ser3176Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752238A>G | CA359190285 | DNAH5 | c.10924T>C (p.Ser3642Pro) c.10879T>C (p.Ser3627Pro) c.11032T>C (p.Ser3678Pro) c.9937T>C (p.Ser3313Pro) c.6121T>C (p.Ser2041Pro) c.5674T>C (p.Ser1892Pro) c.5011T>C (p.Ser1671Pro) c.9526T>C (p.Ser3176Pro) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752238A>T | CA359190286 | DNAH5 | c.10924T>A (p.Ser3642Thr) c.10879T>A (p.Ser3627Thr) c.11032T>A (p.Ser3678Thr) c.9937T>A (p.Ser3313Thr) c.6121T>A (p.Ser2041Thr) c.5674T>A (p.Ser1892Thr) c.5011T>A (p.Ser1671Thr) c.9526T>A (p.Ser3176Thr) | |
5 | g.13752239A>C | CA443248708 | DNAH5 | c.10923T>G (p.Leu3641=) c.10878T>G (p.Leu3626=) c.11031T>G (p.Leu3677=) c.9936T>G (p.Leu3312=) c.6120T>G (p.Leu2040=) c.5673T>G (p.Leu1891=) c.5010T>G (p.Leu1670=) c.9525T>G (p.Leu3175=) | |
5 | g.13752239A>G | CA443248709 | DNAH5 | c.10923T>C (p.Leu3641=) c.10878T>C (p.Leu3626=) c.11031T>C (p.Leu3677=) c.9936T>C (p.Leu3312=) c.6120T>C (p.Leu2040=) c.5673T>C (p.Leu1891=) c.5010T>C (p.Leu1670=) c.9525T>C (p.Leu3175=) | |
5 | g.13752239A>T | CA443248710 | DNAH5 | c.10923T>A (p.Leu3641=) c.10878T>A (p.Leu3626=) c.11031T>A (p.Leu3677=) c.9936T>A (p.Leu3312=) c.6120T>A (p.Leu2040=) c.5673T>A (p.Leu1891=) c.5010T>A (p.Leu1670=) c.9525T>A (p.Leu3175=) | |
5 | g.13752240A>C | CA359190290 | DNAH5 | c.10922T>G (p.Leu3641Arg) c.10877T>G (p.Leu3626Arg) c.11030T>G (p.Leu3677Arg) c.9935T>G (p.Leu3312Arg) c.6119T>G (p.Leu2040Arg) c.5672T>G (p.Leu1891Arg) c.5009T>G (p.Leu1670Arg) c.9524T>G (p.Leu3175Arg) | |
5 | g.13752240A>G | CA359190292 | DNAH5 | c.10922T>C (p.Leu3641Pro) c.10877T>C (p.Leu3626Pro) c.11030T>C (p.Leu3677Pro) c.9935T>C (p.Leu3312Pro) c.6119T>C (p.Leu2040Pro) c.5672T>C (p.Leu1891Pro) c.5009T>C (p.Leu1670Pro) c.9524T>C (p.Leu3175Pro) | |
5 | g.13752240A>T | CA359190295 | DNAH5 | c.10922T>A (p.Leu3641His) c.10877T>A (p.Leu3626His) c.11030T>A (p.Leu3677His) c.9935T>A (p.Leu3312His) c.6119T>A (p.Leu2040His) c.5672T>A (p.Leu1891His) c.5009T>A (p.Leu1670His) c.9524T>A (p.Leu3175His) | |
5 | g.13752241G>A | CA359190304 | DNAH5 | c.10921C>T (p.Leu3641Phe) c.10876C>T (p.Leu3626Phe) c.11029C>T (p.Leu3677Phe) c.9934C>T (p.Leu3312Phe) c.6118C>T (p.Leu2040Phe) c.5671C>T (p.Leu1891Phe) c.5008C>T (p.Leu1670Phe) c.9523C>T (p.Leu3175Phe) | gnomAD v4 |
5 | g.13752241G>C | CA359190297 | DNAH5 | c.10921C>G (p.Leu3641Val) c.10876C>G (p.Leu3626Val) c.11029C>G (p.Leu3677Val) c.9934C>G (p.Leu3312Val) c.6118C>G (p.Leu2040Val) c.5671C>G (p.Leu1891Val) c.5008C>G (p.Leu1670Val) c.9523C>G (p.Leu3175Val) | gnomAD v4 |
5 | g.13752241G>T | CA359190299 | DNAH5 | c.10921C>A (p.Leu3641Ile) c.10876C>A (p.Leu3626Ile) c.11029C>A (p.Leu3677Ile) c.9934C>A (p.Leu3312Ile) c.6118C>A (p.Leu2040Ile) c.5671C>A (p.Leu1891Ile) c.5008C>A (p.Leu1670Ile) c.9523C>A (p.Leu3175Ile) | COSMIC |
5 | g.13752242G>A | CA443248711 | DNAH5 | c.10920C>T (p.Ser3640=) c.10875C>T (p.Ser3625=) c.11028C>T (p.Ser3676=) c.9933C>T (p.Ser3311=) c.6117C>T (p.Ser2039=) c.5670C>T (p.Ser1890=) c.5007C>T (p.Ser1669=) c.9522C>T (p.Ser3174=) | |
5 | g.13752242G>C | CA359190308 | DNAH5 | c.10920C>G (p.Ser3640Arg) c.10875C>G (p.Ser3625Arg) c.11028C>G (p.Ser3676Arg) c.9933C>G (p.Ser3311Arg) c.6117C>G (p.Ser2039Arg) c.5670C>G (p.Ser1890Arg) c.5007C>G (p.Ser1669Arg) c.9522C>G (p.Ser3174Arg) | |
5 | g.13752242G>T | CA359190309 | DNAH5 | c.10920C>A (p.Ser3640Arg) c.10875C>A (p.Ser3625Arg) c.11028C>A (p.Ser3676Arg) c.9933C>A (p.Ser3311Arg) c.6117C>A (p.Ser2039Arg) c.5670C>A (p.Ser1890Arg) c.5007C>A (p.Ser1669Arg) c.9522C>A (p.Ser3174Arg) | |
5 | g.13752242_13752243insT | CA2842270544 | DNAH5 | c.10919_10920insA (p.Ser3640ArgfsTer11) c.10874_10875insA (p.Ser3625ArgfsTer11) c.11027_11028insA (p.Ser3676ArgfsTer11) c.9932_9933insA (p.Ser3311ArgfsTer11) c.6116_6117insA (p.Ser2039ArgfsTer11) c.5669_5670insA (p.Ser1890ArgfsTer11) c.5006_5007insA (p.Ser1669ArgfsTer11) c.9521_9522insA (p.Ser3174ArgfsTer11) | |
5 | g.13752243C>A | CA359190313 | DNAH5 | c.10919G>T (p.Ser3640Ile) c.10874G>T (p.Ser3625Ile) c.11027G>T (p.Ser3676Ile) c.9932G>T (p.Ser3311Ile) c.6116G>T (p.Ser2039Ile) c.5669G>T (p.Ser1890Ile) c.5006G>T (p.Ser1669Ile) c.9521G>T (p.Ser3174Ile) | |
5 | g.13752243C>G | CA359190315 | DNAH5 | c.10919G>C (p.Ser3640Thr) c.10874G>C (p.Ser3625Thr) c.11027G>C (p.Ser3676Thr) c.9932G>C (p.Ser3311Thr) c.6116G>C (p.Ser2039Thr) c.5669G>C (p.Ser1890Thr) c.5006G>C (p.Ser1669Thr) c.9521G>C (p.Ser3174Thr) | |
5 | g.13752243C>T | CA359190317 | DNAH5 | c.10919G>A (p.Ser3640Asn) c.10874G>A (p.Ser3625Asn) c.11027G>A (p.Ser3676Asn) c.9932G>A (p.Ser3311Asn) c.6116G>A (p.Ser2039Asn) c.5669G>A (p.Ser1890Asn) c.5006G>A (p.Ser1669Asn) c.9521G>A (p.Ser3174Asn) | |
5 | g.13752244T>A | CA359190325 | DNAH5 | c.10918A>T (p.Ser3640Cys) c.10873A>T (p.Ser3625Cys) c.11026A>T (p.Ser3676Cys) c.9931A>T (p.Ser3311Cys) c.6115A>T (p.Ser2039Cys) c.5668A>T (p.Ser1890Cys) c.5005A>T (p.Ser1669Cys) c.9520A>T (p.Ser3174Cys) | |
5 | g.13752244T>C | CA359190331 | DNAH5 | c.10918A>G (p.Ser3640Gly) c.10873A>G (p.Ser3625Gly) c.11026A>G (p.Ser3676Gly) c.9931A>G (p.Ser3311Gly) c.6115A>G (p.Ser2039Gly) c.5668A>G (p.Ser1890Gly) c.5005A>G (p.Ser1669Gly) c.9520A>G (p.Ser3174Gly) | gnomAD v4 |
5 | g.13752244T>G | CA359190328 | DNAH5 | c.10918A>C (p.Ser3640Arg) c.10873A>C (p.Ser3625Arg) c.11026A>C (p.Ser3676Arg) c.9931A>C (p.Ser3311Arg) c.6115A>C (p.Ser2039Arg) c.5668A>C (p.Ser1890Arg) c.5005A>C (p.Ser1669Arg) c.9520A>C (p.Ser3174Arg) | |
5 | g.13752245G>A | CA443248712 | DNAH5 | c.10917C>T (p.Asp3639=) c.10872C>T (p.Asp3624=) c.11025C>T (p.Asp3675=) c.9930C>T (p.Asp3310=) c.6114C>T (p.Asp2038=) c.5667C>T (p.Asp1889=) c.5004C>T (p.Asp1668=) c.9519C>T (p.Asp3173=) | |
5 | g.13752245G>C | CA359190334 | DNAH5 | c.10917C>G (p.Asp3639Glu) c.10872C>G (p.Asp3624Glu) c.11025C>G (p.Asp3675Glu) c.9930C>G (p.Asp3310Glu) c.6114C>G (p.Asp2038Glu) c.5667C>G (p.Asp1889Glu) c.5004C>G (p.Asp1668Glu) c.9519C>G (p.Asp3173Glu) | |
5 | g.13752245G>T | CA359190337 | DNAH5 | c.10917C>A (p.Asp3639Glu) c.10872C>A (p.Asp3624Glu) c.11025C>A (p.Asp3675Glu) c.9930C>A (p.Asp3310Glu) c.6114C>A (p.Asp2038Glu) c.5667C>A (p.Asp1889Glu) c.5004C>A (p.Asp1668Glu) c.9519C>A (p.Asp3173Glu) | |
5 | g.13752246T>A | CA3202097 | DNAH5 | c.10916A>T (p.Asp3639Val) c.10871A>T (p.Asp3624Val) c.11024A>T (p.Asp3675Val) c.9929A>T (p.Asp3310Val) c.6113A>T (p.Asp2038Val) c.5666A>T (p.Asp1889Val) c.5003A>T (p.Asp1668Val) c.9518A>T (p.Asp3173Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13752246T>C | CA359190342 | DNAH5 | c.10916A>G (p.Asp3639Gly) c.10871A>G (p.Asp3624Gly) c.11024A>G (p.Asp3675Gly) c.9929A>G (p.Asp3310Gly) c.6113A>G (p.Asp2038Gly) c.5666A>G (p.Asp1889Gly) c.5003A>G (p.Asp1668Gly) c.9518A>G (p.Asp3173Gly) | gnomAD v4 |
5 | g.13752246T>G | CA359190344 | DNAH5 | c.10916A>C (p.Asp3639Ala) c.10871A>C (p.Asp3624Ala) c.11024A>C (p.Asp3675Ala) c.9929A>C (p.Asp3310Ala) c.6113A>C (p.Asp2038Ala) c.5666A>C (p.Asp1889Ala) c.5003A>C (p.Asp1668Ala) c.9518A>C (p.Asp3173Ala) | |
5 | g.13752246T= | CA1528422957 | DNAH5 | c.10916A= (p.Asp3639=) c.10871A= (p.Asp3624=) c.11024A= (p.Asp3675=) c.9929A= (p.Asp3310=) c.6113A= (p.Asp2038=) c.5666A= (p.Asp1889=) c.5003A= (p.Asp1668=) c.9518A= (p.Asp3173=) | |
5 | g.13752247C>A | CA359190345 | DNAH5 | c.10915G>T (p.Asp3639Tyr) c.10870G>T (p.Asp3624Tyr) c.11023G>T (p.Asp3675Tyr) c.9928G>T (p.Asp3310Tyr) c.6112G>T (p.Asp2038Tyr) c.5665G>T (p.Asp1889Tyr) c.5002G>T (p.Asp1668Tyr) c.9517G>T (p.Asp3173Tyr) | |
5 | g.13752247C>G | CA359190346 | DNAH5 | c.10915G>C (p.Asp3639His) c.10870G>C (p.Asp3624His) c.11023G>C (p.Asp3675His) c.9928G>C (p.Asp3310His) c.6112G>C (p.Asp2038His) c.5665G>C (p.Asp1889His) c.5002G>C (p.Asp1668His) c.9517G>C (p.Asp3173His) | |
5 | g.13752247C>T | CA359190347 | DNAH5 | c.10915G>A (p.Asp3639Asn) c.10870G>A (p.Asp3624Asn) c.11023G>A (p.Asp3675Asn) c.9928G>A (p.Asp3310Asn) c.6112G>A (p.Asp2038Asn) c.5665G>A (p.Asp1889Asn) c.5002G>A (p.Asp1668Asn) c.9517G>A (p.Asp3173Asn) | COSMIC |
5 | g.13752248T>A | CA359190350 | DNAH5 | c.10914A>T (p.Glu3638Asp) c.10869A>T (p.Glu3623Asp) c.11022A>T (p.Glu3674Asp) c.9927A>T (p.Glu3309Asp) c.6111A>T (p.Glu2037Asp) c.5664A>T (p.Glu1888Asp) c.5001A>T (p.Glu1667Asp) c.9516A>T (p.Glu3172Asp) | |
5 | g.13752248T>C | CA3202098 | DNAH5 | c.10914A>G (p.Glu3638=) c.10869A>G (p.Glu3623=) c.11022A>G (p.Glu3674=) c.9927A>G (p.Glu3309=) c.6111A>G (p.Glu2037=) c.5664A>G (p.Glu1888=) c.5001A>G (p.Glu1667=) c.9516A>G (p.Glu3172=) | dbSNP ExAC gnomAD v4 |
5 | g.13752248T>G | CA359190354 | DNAH5 | c.10914A>C (p.Glu3638Asp) c.10869A>C (p.Glu3623Asp) c.11022A>C (p.Glu3674Asp) c.9927A>C (p.Glu3309Asp) c.6111A>C (p.Glu2037Asp) c.5664A>C (p.Glu1888Asp) c.5001A>C (p.Glu1667Asp) c.9516A>C (p.Glu3172Asp) | |
5 | g.13752248T= | CA1528422958 | DNAH5 | c.10914A= (p.Glu3638=) c.10869A= (p.Glu3623=) c.11022A= (p.Glu3674=) c.9927A= (p.Glu3309=) c.6111A= (p.Glu2037=) c.5664A= (p.Glu1888=) c.5001A= (p.Glu1667=) c.9516A= (p.Glu3172=) | |
5 | g.13752249T>A | CA359190364 | DNAH5 | c.10913A>T (p.Glu3638Val) c.10868A>T (p.Glu3623Val) c.11021A>T (p.Glu3674Val) c.9926A>T (p.Glu3309Val) c.6110A>T (p.Glu2037Val) c.5663A>T (p.Glu1888Val) c.5000A>T (p.Glu1667Val) c.9515A>T (p.Glu3172Val) | |
5 | g.13752249T>C | CA359190359 | DNAH5 | c.10913A>G (p.Glu3638Gly) c.10868A>G (p.Glu3623Gly) c.11021A>G (p.Glu3674Gly) c.9926A>G (p.Glu3309Gly) c.6110A>G (p.Glu2037Gly) c.5663A>G (p.Glu1888Gly) c.5000A>G (p.Glu1667Gly) c.9515A>G (p.Glu3172Gly) | gnomAD v4 |
5 | g.13752249T>G | CA359190357 | DNAH5 | c.10913A>C (p.Glu3638Ala) c.10868A>C (p.Glu3623Ala) c.11021A>C (p.Glu3674Ala) c.9926A>C (p.Glu3309Ala) c.6110A>C (p.Glu2037Ala) c.5663A>C (p.Glu1888Ala) c.5000A>C (p.Glu1667Ala) c.9515A>C (p.Glu3172Ala) | |
5 | g.13752250C>A | CA359190367 | DNAH5 | c.10912G>T (p.Glu3638Ter) c.10867G>T (p.Glu3623Ter) c.11020G>T (p.Glu3674Ter) c.9925G>T (p.Glu3309Ter) c.6109G>T (p.Glu2037Ter) c.5662G>T (p.Glu1888Ter) c.4999G>T (p.Glu1667Ter) c.9514G>T (p.Glu3172Ter) | |
5 | g.13752250C= | CA1528422959 | DNAH5 | c.10912G= (p.Glu3638=) c.10867G= (p.Glu3623=) c.11020G= (p.Glu3674=) c.9925G= (p.Glu3309=) c.6109G= (p.Glu2037=) c.5662G= (p.Glu1888=) c.4999G= (p.Glu1667=) c.9514G= (p.Glu3172=) | |
5 | g.13752250C>G | CA359190371 | DNAH5 | c.10912G>C (p.Glu3638Gln) c.10867G>C (p.Glu3623Gln) c.11020G>C (p.Glu3674Gln) c.9925G>C (p.Glu3309Gln) c.6109G>C (p.Glu2037Gln) c.5662G>C (p.Glu1888Gln) c.4999G>C (p.Glu1667Gln) c.9514G>C (p.Glu3172Gln) | |
5 | g.13752250C>T | CA113917825 | DNAH5 | c.10912G>A (p.Glu3638Lys) c.10867G>A (p.Glu3623Lys) c.11020G>A (p.Glu3674Lys) c.9925G>A (p.Glu3309Lys) c.6109G>A (p.Glu2037Lys) c.5662G>A (p.Glu1888Lys) c.4999G>A (p.Glu1667Lys) c.9514G>A (p.Glu3172Lys) | dbSNP |
5 | g.13752251C>A | CA443248716 | DNAH5 | c.10911G>T (p.Leu3637=) c.10866G>T (p.Leu3622=) c.11019G>T (p.Leu3673=) c.9924G>T (p.Leu3308=) c.6108G>T (p.Leu2036=) c.5661G>T (p.Leu1887=) c.4998G>T (p.Leu1666=) c.9513G>T (p.Leu3171=) | |
5 | g.13752251C>G | CA443248718 | DNAH5 | c.10911G>C (p.Leu3637=) c.10866G>C (p.Leu3622=) c.11019G>C (p.Leu3673=) c.9924G>C (p.Leu3308=) c.6108G>C (p.Leu2036=) c.5661G>C (p.Leu1887=) c.4998G>C (p.Leu1666=) c.9513G>C (p.Leu3171=) | |
5 | g.13752251C>T | CA443248717 | DNAH5 | c.10911G>A (p.Leu3637=) c.10866G>A (p.Leu3622=) c.11019G>A (p.Leu3673=) c.9924G>A (p.Leu3308=) c.6108G>A (p.Leu2036=) c.5661G>A (p.Leu1887=) c.4998G>A (p.Leu1666=) c.9513G>A (p.Leu3171=) | |
5 | g.13752251_13752252delinsCA | CA1528422960 | DNAH5 | c.10910_10911delinsTG (p.Leu3637=) c.10865_10866delinsTG (p.Leu3622=) c.11018_11019delinsTG (p.Leu3673=) c.9923_9924delinsTG (p.Leu3308=) c.6107_6108delinsTG (p.Leu2036=) c.5660_5661delinsTG (p.Leu1887=) c.4997_4998delinsTG (p.Leu1666=) c.9512_9513delinsTG (p.Leu3171=) | |
5 | g.13752252del | CA3202099 | DNAH5 | c.10910del (p.Leu3637ArgfsTer20) c.10865del (p.Leu3622ArgfsTer20) c.11018del (p.Leu3673ArgfsTer20) c.9923del (p.Leu3308ArgfsTer20) c.6107del (p.Leu2036ArgfsTer20) c.5660del (p.Leu1887ArgfsTer20) c.4997del (p.Leu1666ArgfsTer20) c.9512del (p.Leu3171ArgfsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752252A= | CA1528422961 | DNAH5 | c.10910T= (p.Leu3637=) c.10865T= (p.Leu3622=) c.11018T= (p.Leu3673=) c.9923T= (p.Leu3308=) c.6107T= (p.Leu2036=) c.5660T= (p.Leu1887=) c.4997T= (p.Leu1666=) c.9512T= (p.Leu3171=) | |
5 | g.13752252A>C | CA359190375 | DNAH5 | c.10910T>G (p.Leu3637Arg) c.10865T>G (p.Leu3622Arg) c.11018T>G (p.Leu3673Arg) c.9923T>G (p.Leu3308Arg) c.6107T>G (p.Leu2036Arg) c.5660T>G (p.Leu1887Arg) c.4997T>G (p.Leu1666Arg) c.9512T>G (p.Leu3171Arg) | |
5 | g.13752252A>G | CA359190380 | DNAH5 | c.10910T>C (p.Leu3637Pro) c.10865T>C (p.Leu3622Pro) c.11018T>C (p.Leu3673Pro) c.9923T>C (p.Leu3308Pro) c.6107T>C (p.Leu2036Pro) c.5660T>C (p.Leu1887Pro) c.4997T>C (p.Leu1666Pro) c.9512T>C (p.Leu3171Pro) | |
5 | g.13752252A>T | CA359190386 | DNAH5 | c.10910T>A (p.Leu3637Gln) c.10865T>A (p.Leu3622Gln) c.11018T>A (p.Leu3673Gln) c.9923T>A (p.Leu3308Gln) c.6107T>A (p.Leu2036Gln) c.5660T>A (p.Leu1887Gln) c.4997T>A (p.Leu1666Gln) c.9512T>A (p.Leu3171Gln) | ClinVar dbSNP gnomAD v4 |
5 | g.13752253G>A | CA3202100 | DNAH5 | c.10909C>T (p.Leu3637=) c.10864C>T (p.Leu3622=) c.11017C>T (p.Leu3673=) c.9922C>T (p.Leu3308=) c.6106C>T (p.Leu2036=) c.5659C>T (p.Leu1887=) c.4996C>T (p.Leu1666=) c.9511C>T (p.Leu3171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752253G>C | CA359190389 | DNAH5 | c.10909C>G (p.Leu3637Val) c.10864C>G (p.Leu3622Val) c.11017C>G (p.Leu3673Val) c.9922C>G (p.Leu3308Val) c.6106C>G (p.Leu2036Val) c.5659C>G (p.Leu1887Val) c.4996C>G (p.Leu1666Val) c.9511C>G (p.Leu3171Val) | gnomAD v4 |
5 | g.13752253G= | CA1528422962 | DNAH5 | c.10909C= (p.Leu3637=) c.10864C= (p.Leu3622=) c.11017C= (p.Leu3673=) c.9922C= (p.Leu3308=) c.6106C= (p.Leu2036=) c.5659C= (p.Leu1887=) c.4996C= (p.Leu1666=) c.9511C= (p.Leu3171=) | |
5 | g.13752253G>T | CA359190391 | DNAH5 | c.10909C>A (p.Leu3637Met) c.10864C>A (p.Leu3622Met) c.11017C>A (p.Leu3673Met) c.9922C>A (p.Leu3308Met) c.6106C>A (p.Leu2036Met) c.5659C>A (p.Leu1887Met) c.4996C>A (p.Leu1666Met) c.9511C>A (p.Leu3171Met) | dbSNP |
5 | g.13752254del | CA359190393 | DNAH5 | c.10909del (p.Leu3637TrpfsTer20) c.10864del (p.Leu3622TrpfsTer20) c.11017del (p.Leu3673TrpfsTer20) c.9922del (p.Leu3308TrpfsTer20) c.6106del (p.Leu2036TrpfsTer20) c.5659del (p.Leu1887TrpfsTer20) c.4996del (p.Leu1666TrpfsTer20) c.9511del (p.Leu3171TrpfsTer20) | |
5 | g.13752254G>A | CA443248722 | DNAH5 | c.10908C>T (p.His3636=) c.10863C>T (p.His3621=) c.11016C>T (p.His3672=) c.9921C>T (p.His3307=) c.6105C>T (p.His2035=) c.5658C>T (p.His1886=) c.4995C>T (p.His1665=) c.9510C>T (p.His3170=) | gnomAD v4 |
5 | g.13752254G>C | CA359190399 | DNAH5 | c.10908C>G (p.His3636Gln) c.10863C>G (p.His3621Gln) c.11016C>G (p.His3672Gln) c.9921C>G (p.His3307Gln) c.6105C>G (p.His2035Gln) c.5658C>G (p.His1886Gln) c.4995C>G (p.His1665Gln) c.9510C>G (p.His3170Gln) | |
5 | g.13752254G>T | CA359190401 | DNAH5 | c.10908C>A (p.His3636Gln) c.10863C>A (p.His3621Gln) c.11016C>A (p.His3672Gln) c.9921C>A (p.His3307Gln) c.6105C>A (p.His2035Gln) c.5658C>A (p.His1886Gln) c.4995C>A (p.His1665Gln) c.9510C>A (p.His3170Gln) | |
5 | g.13752255T>A | CA359190407 | DNAH5 | c.10907A>T (p.His3636Leu) c.10862A>T (p.His3621Leu) c.11015A>T (p.His3672Leu) c.9920A>T (p.His3307Leu) c.6104A>T (p.His2035Leu) c.5657A>T (p.His1886Leu) c.4994A>T (p.His1665Leu) c.9509A>T (p.His3170Leu) | |
5 | g.13752255T>C | CA359190410 | DNAH5 | c.10907A>G (p.His3636Arg) c.10862A>G (p.His3621Arg) c.11015A>G (p.His3672Arg) c.9920A>G (p.His3307Arg) c.6104A>G (p.His2035Arg) c.5657A>G (p.His1886Arg) c.4994A>G (p.His1665Arg) c.9509A>G (p.His3170Arg) | COSMIC |
5 | g.13752255T>G | CA359190412 | DNAH5 | c.10907A>C (p.His3636Pro) c.10862A>C (p.His3621Pro) c.11015A>C (p.His3672Pro) c.9920A>C (p.His3307Pro) c.6104A>C (p.His2035Pro) c.5657A>C (p.His1886Pro) c.4994A>C (p.His1665Pro) c.9509A>C (p.His3170Pro) | |
5 | g.13752256G>A | CA359190414 | DNAH5 | c.10906C>T (p.His3636Tyr) c.10861C>T (p.His3621Tyr) c.11014C>T (p.His3672Tyr) c.9919C>T (p.His3307Tyr) c.6103C>T (p.His2035Tyr) c.5656C>T (p.His1886Tyr) c.4993C>T (p.His1665Tyr) c.9508C>T (p.His3170Tyr) | |
5 | g.13752256G>C | CA359190416 | DNAH5 | c.10906C>G (p.His3636Asp) c.10861C>G (p.His3621Asp) c.11014C>G (p.His3672Asp) c.9919C>G (p.His3307Asp) c.6103C>G (p.His2035Asp) c.5656C>G (p.His1886Asp) c.4993C>G (p.His1665Asp) c.9508C>G (p.His3170Asp) | |
5 | g.13752256G>T | CA359190419 | DNAH5 | c.10906C>A (p.His3636Asn) c.10861C>A (p.His3621Asn) c.11014C>A (p.His3672Asn) c.9919C>A (p.His3307Asn) c.6103C>A (p.His2035Asn) c.5656C>A (p.His1886Asn) c.4993C>A (p.His1665Asn) c.9508C>A (p.His3170Asn) | |
5 | g.13752257G>A | CA443248725 | DNAH5 | c.10905C>T (p.Asn3635=) c.10860C>T (p.Asn3620=) c.11013C>T (p.Asn3671=) c.9918C>T (p.Asn3306=) c.6102C>T (p.Asn2034=) c.5655C>T (p.Asn1885=) c.4992C>T (p.Asn1664=) c.9507C>T (p.Asn3169=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13752257G>C | CA359190424 | DNAH5 | c.10905C>G (p.Asn3635Lys) c.10860C>G (p.Asn3620Lys) c.11013C>G (p.Asn3671Lys) c.9918C>G (p.Asn3306Lys) c.6102C>G (p.Asn2034Lys) c.5655C>G (p.Asn1885Lys) c.4992C>G (p.Asn1664Lys) c.9507C>G (p.Asn3169Lys) | |
5 | g.13752257G= | CA1528422963 | DNAH5 | c.10905C= (p.Asn3635=) c.10860C= (p.Asn3620=) c.11013C= (p.Asn3671=) c.9918C= (p.Asn3306=) c.6102C= (p.Asn2034=) c.5655C= (p.Asn1885=) c.4992C= (p.Asn1664=) c.9507C= (p.Asn3169=) | |
5 | g.13752257G>T | CA359190422 | DNAH5 | c.10905C>A (p.Asn3635Lys) c.10860C>A (p.Asn3620Lys) c.11013C>A (p.Asn3671Lys) c.9918C>A (p.Asn3306Lys) c.6102C>A (p.Asn2034Lys) c.5655C>A (p.Asn1885Lys) c.4992C>A (p.Asn1664Lys) c.9507C>A (p.Asn3169Lys) | |
5 | g.13752258T>A | CA359190428 | DNAH5 | c.10904A>T (p.Asn3635Ile) c.10859A>T (p.Asn3620Ile) c.11012A>T (p.Asn3671Ile) c.9917A>T (p.Asn3306Ile) c.6101A>T (p.Asn2034Ile) c.5654A>T (p.Asn1885Ile) c.4991A>T (p.Asn1664Ile) c.9506A>T (p.Asn3169Ile) | |
5 | g.13752258T>C | CA359190431 | DNAH5 | c.10904A>G (p.Asn3635Ser) c.10859A>G (p.Asn3620Ser) c.11012A>G (p.Asn3671Ser) c.9917A>G (p.Asn3306Ser) c.6101A>G (p.Asn2034Ser) c.5654A>G (p.Asn1885Ser) c.4991A>G (p.Asn1664Ser) c.9506A>G (p.Asn3169Ser) | gnomAD v4 |
5 | g.13752258T>G | CA359190434 | DNAH5 | c.10904A>C (p.Asn3635Thr) c.10859A>C (p.Asn3620Thr) c.11012A>C (p.Asn3671Thr) c.9917A>C (p.Asn3306Thr) c.6101A>C (p.Asn2034Thr) c.5654A>C (p.Asn1885Thr) c.4991A>C (p.Asn1664Thr) c.9506A>C (p.Asn3169Thr) | |
5 | g.13752259T>A | CA359190437 | DNAH5 | c.10903A>T (p.Asn3635Tyr) c.10858A>T (p.Asn3620Tyr) c.11011A>T (p.Asn3671Tyr) c.9916A>T (p.Asn3306Tyr) c.6100A>T (p.Asn2034Tyr) c.5653A>T (p.Asn1885Tyr) c.4990A>T (p.Asn1664Tyr) c.9505A>T (p.Asn3169Tyr) | |
5 | g.13752259T>C | CA359190438 | DNAH5 | c.10903A>G (p.Asn3635Asp) c.10858A>G (p.Asn3620Asp) c.11011A>G (p.Asn3671Asp) c.9916A>G (p.Asn3306Asp) c.6100A>G (p.Asn2034Asp) c.5653A>G (p.Asn1885Asp) c.4990A>G (p.Asn1664Asp) c.9505A>G (p.Asn3169Asp) | |
5 | g.13752259T>G | CA113917848 | DNAH5 | c.10903A>C (p.Asn3635His) c.10858A>C (p.Asn3620His) c.11011A>C (p.Asn3671His) c.9916A>C (p.Asn3306His) c.6100A>C (p.Asn2034His) c.5653A>C (p.Asn1885His) c.4990A>C (p.Asn1664His) c.9505A>C (p.Asn3169His) | dbSNP |
5 | g.13752259T= | CA1528422964 | DNAH5 | c.10903A= (p.Asn3635=) c.10858A= (p.Asn3620=) c.11011A= (p.Asn3671=) c.9916A= (p.Asn3306=) c.6100A= (p.Asn2034=) c.5653A= (p.Asn1885=) c.4990A= (p.Asn1664=) c.9505A= (p.Asn3169=) | |
5 | g.13752260T>A | CA359190441 | DNAH5 | c.10902A>T (p.Arg3634Ser) c.10857A>T (p.Arg3619Ser) c.11010A>T (p.Arg3670Ser) c.9915A>T (p.Arg3305Ser) c.6099A>T (p.Arg2033Ser) c.5652A>T (p.Arg1884Ser) c.4989A>T (p.Arg1663Ser) c.9504A>T (p.Arg3168Ser) | |
5 | g.13752260T>C | CA443248729 | DNAH5 | c.10902A>G (p.Arg3634=) c.10857A>G (p.Arg3619=) c.11010A>G (p.Arg3670=) c.9915A>G (p.Arg3305=) c.6099A>G (p.Arg2033=) c.5652A>G (p.Arg1884=) c.4989A>G (p.Arg1663=) c.9504A>G (p.Arg3168=) | |
5 | g.13752260T>G | CA359190443 | DNAH5 | c.10902A>C (p.Arg3634Ser) c.10857A>C (p.Arg3619Ser) c.11010A>C (p.Arg3670Ser) c.9915A>C (p.Arg3305Ser) c.6099A>C (p.Arg2033Ser) c.5652A>C (p.Arg1884Ser) c.4989A>C (p.Arg1663Ser) c.9504A>C (p.Arg3168Ser) | |
5 | g.13752261C>A | CA359190447 | DNAH5 | c.10901G>T (p.Arg3634Ile) c.10856G>T (p.Arg3619Ile) c.11009G>T (p.Arg3670Ile) c.9914G>T (p.Arg3305Ile) c.6098G>T (p.Arg2033Ile) c.5651G>T (p.Arg1884Ile) c.4988G>T (p.Arg1663Ile) c.9503G>T (p.Arg3168Ile) | |
5 | g.13752261C>G | CA359190451 | DNAH5 | c.10901G>C (p.Arg3634Thr) c.10856G>C (p.Arg3619Thr) c.11009G>C (p.Arg3670Thr) c.9914G>C (p.Arg3305Thr) c.6098G>C (p.Arg2033Thr) c.5651G>C (p.Arg1884Thr) c.4988G>C (p.Arg1663Thr) c.9503G>C (p.Arg3168Thr) | |
5 | g.13752261C>T | CA359190453 | DNAH5 | c.10901G>A (p.Arg3634Lys) c.10856G>A (p.Arg3619Lys) c.11009G>A (p.Arg3670Lys) c.9914G>A (p.Arg3305Lys) c.6098G>A (p.Arg2033Lys) c.5651G>A (p.Arg1884Lys) c.4988G>A (p.Arg1663Lys) c.9503G>A (p.Arg3168Lys) | gnomAD v4 |
5 | g.13752262T>A | CA359190456 | DNAH5 | c.10900A>T (p.Arg3634Ter) c.10855A>T (p.Arg3619Ter) c.11008A>T (p.Arg3670Ter) c.9913A>T (p.Arg3305Ter) c.6097A>T (p.Arg2033Ter) c.5650A>T (p.Arg1884Ter) c.4987A>T (p.Arg1663Ter) c.9502A>T (p.Arg3168Ter) | ClinVar |
5 | g.13752262T>C | CA359190459 | DNAH5 | c.10900A>G (p.Arg3634Gly) c.10855A>G (p.Arg3619Gly) c.11008A>G (p.Arg3670Gly) c.9913A>G (p.Arg3305Gly) c.6097A>G (p.Arg2033Gly) c.5650A>G (p.Arg1884Gly) c.4987A>G (p.Arg1663Gly) c.9502A>G (p.Arg3168Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752262T>G | CA443248733 | DNAH5 | c.10900A>C (p.Arg3634=) c.10855A>C (p.Arg3619=) c.11008A>C (p.Arg3670=) c.9913A>C (p.Arg3305=) c.6097A>C (p.Arg2033=) c.5650A>C (p.Arg1884=) c.4987A>C (p.Arg1663=) c.9502A>C (p.Arg3168=) | |
5 | g.13752262T= | CA1528422965 | DNAH5 | c.10900A= (p.Arg3634=) c.10855A= (p.Arg3619=) c.11008A= (p.Arg3670=) c.9913A= (p.Arg3305=) c.6097A= (p.Arg2033=) c.5650A= (p.Arg1884=) c.4987A= (p.Arg1663=) c.9502A= (p.Arg3168=) | |
5 | g.13752263G>A | CA443248734 | DNAH5 | c.10899C>T (p.Phe3633=) c.10854C>T (p.Phe3618=) c.11007C>T (p.Phe3669=) c.9912C>T (p.Phe3304=) c.6096C>T (p.Phe2032=) c.5649C>T (p.Phe1883=) c.4986C>T (p.Phe1662=) c.9501C>T (p.Phe3167=) | |
5 | g.13752263G>C | CA359190461 | DNAH5 | c.10899C>G (p.Phe3633Leu) c.10854C>G (p.Phe3618Leu) c.11007C>G (p.Phe3669Leu) c.9912C>G (p.Phe3304Leu) c.6096C>G (p.Phe2032Leu) c.5649C>G (p.Phe1883Leu) c.4986C>G (p.Phe1662Leu) c.9501C>G (p.Phe3167Leu) | |
5 | g.13752263G>T | CA359190463 | DNAH5 | c.10899C>A (p.Phe3633Leu) c.10854C>A (p.Phe3618Leu) c.11007C>A (p.Phe3669Leu) c.9912C>A (p.Phe3304Leu) c.6096C>A (p.Phe2032Leu) c.5649C>A (p.Phe1883Leu) c.4986C>A (p.Phe1662Leu) c.9501C>A (p.Phe3167Leu) | gnomAD v4 |
5 | g.13752264A>C | CA359190465 | DNAH5 | c.10898T>G (p.Phe3633Cys) c.10853T>G (p.Phe3618Cys) c.11006T>G (p.Phe3669Cys) c.9911T>G (p.Phe3304Cys) c.6095T>G (p.Phe2032Cys) c.5648T>G (p.Phe1883Cys) c.4985T>G (p.Phe1662Cys) c.9500T>G (p.Phe3167Cys) | |
5 | g.13752264A>G | CA359190466 | DNAH5 | c.10898T>C (p.Phe3633Ser) c.10853T>C (p.Phe3618Ser) c.11006T>C (p.Phe3669Ser) c.9911T>C (p.Phe3304Ser) c.6095T>C (p.Phe2032Ser) c.5648T>C (p.Phe1883Ser) c.4985T>C (p.Phe1662Ser) c.9500T>C (p.Phe3167Ser) | |
5 | g.13752264A>T | CA359190468 | DNAH5 | c.10898T>A (p.Phe3633Tyr) c.10853T>A (p.Phe3618Tyr) c.11006T>A (p.Phe3669Tyr) c.9911T>A (p.Phe3304Tyr) c.6095T>A (p.Phe2032Tyr) c.5648T>A (p.Phe1883Tyr) c.4985T>A (p.Phe1662Tyr) c.9500T>A (p.Phe3167Tyr) | |
5 | g.13752265A= | CA1528422966 | DNAH5 | c.10897T= (p.Phe3633=) c.10852T= (p.Phe3618=) c.11005T= (p.Phe3669=) c.9910T= (p.Phe3304=) c.6094T= (p.Phe2032=) c.5647T= (p.Phe1883=) c.4984T= (p.Phe1662=) c.9499T= (p.Phe3167=) | |
5 | g.13752265A>C | CA359190470 | DNAH5 | c.10897T>G (p.Phe3633Val) c.10852T>G (p.Phe3618Val) c.11005T>G (p.Phe3669Val) c.9910T>G (p.Phe3304Val) c.6094T>G (p.Phe2032Val) c.5647T>G (p.Phe1883Val) c.4984T>G (p.Phe1662Val) c.9499T>G (p.Phe3167Val) | |
5 | g.13752265A>G | CA359190472 | DNAH5 | c.10897T>C (p.Phe3633Leu) c.10852T>C (p.Phe3618Leu) c.11005T>C (p.Phe3669Leu) c.9910T>C (p.Phe3304Leu) c.6094T>C (p.Phe2032Leu) c.5647T>C (p.Phe1883Leu) c.4984T>C (p.Phe1662Leu) c.9499T>C (p.Phe3167Leu) | |
5 | g.13752265A>T | CA3202101 | DNAH5 | c.10897T>A (p.Phe3633Ile) c.10852T>A (p.Phe3618Ile) c.11005T>A (p.Phe3669Ile) c.9910T>A (p.Phe3304Ile) c.6094T>A (p.Phe2032Ile) c.5647T>A (p.Phe1883Ile) c.4984T>A (p.Phe1662Ile) c.9499T>A (p.Phe3167Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752266G>A | CA443248737 | DNAH5 | c.10896C>T (p.Tyr3632=) c.10851C>T (p.Tyr3617=) c.11004C>T (p.Tyr3668=) c.9909C>T (p.Tyr3303=) c.6093C>T (p.Tyr2031=) c.5646C>T (p.Tyr1882=) c.4983C>T (p.Tyr1661=) c.9498C>T (p.Tyr3166=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752266G>C | CA359190477 | DNAH5 | c.10896C>G (p.Tyr3632Ter) c.10851C>G (p.Tyr3617Ter) c.11004C>G (p.Tyr3668Ter) c.9909C>G (p.Tyr3303Ter) c.6093C>G (p.Tyr2031Ter) c.5646C>G (p.Tyr1882Ter) c.4983C>G (p.Tyr1661Ter) c.9498C>G (p.Tyr3166Ter) | |
5 | g.13752266G= | CA1528422967 | DNAH5 | c.10896C= (p.Tyr3632=) c.10851C= (p.Tyr3617=) c.11004C= (p.Tyr3668=) c.9909C= (p.Tyr3303=) c.6093C= (p.Tyr2031=) c.5646C= (p.Tyr1882=) c.4983C= (p.Tyr1661=) c.9498C= (p.Tyr3166=) | |
5 | g.13752266G>T | CA359190475 | DNAH5 | c.10896C>A (p.Tyr3632Ter) c.10851C>A (p.Tyr3617Ter) c.11004C>A (p.Tyr3668Ter) c.9909C>A (p.Tyr3303Ter) c.6093C>A (p.Tyr2031Ter) c.5646C>A (p.Tyr1882Ter) c.4983C>A (p.Tyr1661Ter) c.9498C>A (p.Tyr3166Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13752267T>A | CA359190478 | DNAH5 | c.10895A>T (p.Tyr3632Phe) c.10850A>T (p.Tyr3617Phe) c.11003A>T (p.Tyr3668Phe) c.9908A>T (p.Tyr3303Phe) c.6092A>T (p.Tyr2031Phe) c.5645A>T (p.Tyr1882Phe) c.4982A>T (p.Tyr1661Phe) c.9497A>T (p.Tyr3166Phe) | |
5 | g.13752267T>C | CA3202102 | DNAH5 | c.10895A>G (p.Tyr3632Cys) c.10850A>G (p.Tyr3617Cys) c.11003A>G (p.Tyr3668Cys) c.9908A>G (p.Tyr3303Cys) c.6092A>G (p.Tyr2031Cys) c.5645A>G (p.Tyr1882Cys) c.4982A>G (p.Tyr1661Cys) c.9497A>G (p.Tyr3166Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13752267T>G | CA359190480 | DNAH5 | c.10895A>C (p.Tyr3632Ser) c.10850A>C (p.Tyr3617Ser) c.11003A>C (p.Tyr3668Ser) c.9908A>C (p.Tyr3303Ser) c.6092A>C (p.Tyr2031Ser) c.5645A>C (p.Tyr1882Ser) c.4982A>C (p.Tyr1661Ser) c.9497A>C (p.Tyr3166Ser) | |
5 | g.13752267T= | CA1528422968 | DNAH5 | c.10895A= (p.Tyr3632=) c.10850A= (p.Tyr3617=) c.11003A= (p.Tyr3668=) c.9908A= (p.Tyr3303=) c.6092A= (p.Tyr2031=) c.5645A= (p.Tyr1882=) c.4982A= (p.Tyr1661=) c.9497A= (p.Tyr3166=) | |
5 | g.13752268A>C | CA359190482 | DNAH5 | c.10894T>G (p.Tyr3632Asp) c.10849T>G (p.Tyr3617Asp) c.11002T>G (p.Tyr3668Asp) c.9907T>G (p.Tyr3303Asp) c.6091T>G (p.Tyr2031Asp) c.5644T>G (p.Tyr1882Asp) c.4981T>G (p.Tyr1661Asp) c.9496T>G (p.Tyr3166Asp) | |
5 | g.13752268A>G | CA359190483 | DNAH5 | c.10894T>C (p.Tyr3632His) c.10849T>C (p.Tyr3617His) c.11002T>C (p.Tyr3668His) c.9907T>C (p.Tyr3303His) c.6091T>C (p.Tyr2031His) c.5644T>C (p.Tyr1882His) c.4981T>C (p.Tyr1661His) c.9496T>C (p.Tyr3166His) | |
5 | g.13752268A>T | CA359190484 | DNAH5 | c.10894T>A (p.Tyr3632Asn) c.10849T>A (p.Tyr3617Asn) c.11002T>A (p.Tyr3668Asn) c.9907T>A (p.Tyr3303Asn) c.6091T>A (p.Tyr2031Asn) c.5644T>A (p.Tyr1882Asn) c.4981T>A (p.Tyr1661Asn) c.9496T>A (p.Tyr3166Asn) | |
5 | g.13752269C>A | CA359190487 | DNAH5 | c.10893G>T (p.Lys3631Asn) c.10848G>T (p.Lys3616Asn) c.11001G>T (p.Lys3667Asn) c.9906G>T (p.Lys3302Asn) c.6090G>T (p.Lys2030Asn) c.5643G>T (p.Lys1881Asn) c.4980G>T (p.Lys1660Asn) c.9495G>T (p.Lys3165Asn) | |
5 | g.13752269C= | CA1528422969 | DNAH5 | c.10893G= (p.Lys3631=) c.10848G= (p.Lys3616=) c.11001G= (p.Lys3667=) c.9906G= (p.Lys3302=) c.6090G= (p.Lys2030=) c.5643G= (p.Lys1881=) c.4980G= (p.Lys1660=) c.9495G= (p.Lys3165=) | |
5 | g.13752269C>G | CA359190489 | DNAH5 | c.10893G>C (p.Lys3631Asn) c.10848G>C (p.Lys3616Asn) c.11001G>C (p.Lys3667Asn) c.9906G>C (p.Lys3302Asn) c.6090G>C (p.Lys2030Asn) c.5643G>C (p.Lys1881Asn) c.4980G>C (p.Lys1660Asn) c.9495G>C (p.Lys3165Asn) | |
5 | g.13752269C>T | CA3202103 | DNAH5 | c.10893G>A (p.Lys3631=) c.10848G>A (p.Lys3616=) c.11001G>A (p.Lys3667=) c.9906G>A (p.Lys3302=) c.6090G>A (p.Lys2030=) c.5643G>A (p.Lys1881=) c.4980G>A (p.Lys1660=) c.9495G>A (p.Lys3165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752270T>A | CA359190491 | DNAH5 | c.10892A>T (p.Lys3631Met) c.10847A>T (p.Lys3616Met) c.11000A>T (p.Lys3667Met) c.9905A>T (p.Lys3302Met) c.6089A>T (p.Lys2030Met) c.5642A>T (p.Lys1881Met) c.4979A>T (p.Lys1660Met) c.9494A>T (p.Lys3165Met) | dbSNP gnomAD v2 COSMIC |
5 | g.13752270T>C | CA359190493 | DNAH5 | c.10892A>G (p.Lys3631Arg) c.10847A>G (p.Lys3616Arg) c.11000A>G (p.Lys3667Arg) c.9905A>G (p.Lys3302Arg) c.6089A>G (p.Lys2030Arg) c.5642A>G (p.Lys1881Arg) c.4979A>G (p.Lys1660Arg) c.9494A>G (p.Lys3165Arg) | gnomAD v4 |
5 | g.13752270T>G | CA359190495 | DNAH5 | c.10892A>C (p.Lys3631Thr) c.10847A>C (p.Lys3616Thr) c.11000A>C (p.Lys3667Thr) c.9905A>C (p.Lys3302Thr) c.6089A>C (p.Lys2030Thr) c.5642A>C (p.Lys1881Thr) c.4979A>C (p.Lys1660Thr) c.9494A>C (p.Lys3165Thr) | |
5 | g.13752270T= | CA1528422970 | DNAH5 | c.10892A= (p.Lys3631=) c.10847A= (p.Lys3616=) c.11000A= (p.Lys3667=) c.9905A= (p.Lys3302=) c.6089A= (p.Lys2030=) c.5642A= (p.Lys1881=) c.4979A= (p.Lys1660=) c.9494A= (p.Lys3165=) | |
5 | g.13752271T>A | CA359190496 | DNAH5 | c.10891A>T (p.Lys3631Ter) c.10846A>T (p.Lys3616Ter) c.10999A>T (p.Lys3667Ter) c.9904A>T (p.Lys3302Ter) c.6088A>T (p.Lys2030Ter) c.5641A>T (p.Lys1881Ter) c.4978A>T (p.Lys1660Ter) c.9493A>T (p.Lys3165Ter) | |
5 | g.13752271T>C | CA359190498 | DNAH5 | c.10891A>G (p.Lys3631Glu) c.10846A>G (p.Lys3616Glu) c.10999A>G (p.Lys3667Glu) c.9904A>G (p.Lys3302Glu) c.6088A>G (p.Lys2030Glu) c.5641A>G (p.Lys1881Glu) c.4978A>G (p.Lys1660Glu) c.9493A>G (p.Lys3165Glu) | |
5 | g.13752271T>G | CA359190500 | DNAH5 | c.10891A>C (p.Lys3631Gln) c.10846A>C (p.Lys3616Gln) c.10999A>C (p.Lys3667Gln) c.9904A>C (p.Lys3302Gln) c.6088A>C (p.Lys2030Gln) c.5641A>C (p.Lys1881Gln) c.4978A>C (p.Lys1660Gln) c.9493A>C (p.Lys3165Gln) | |
5 | g.13752272G>A | CA443248747 | DNAH5 | c.10890C>T (p.His3630=) c.10845C>T (p.His3615=) c.10998C>T (p.His3666=) c.9903C>T (p.His3301=) c.6087C>T (p.His2029=) c.5640C>T (p.His1880=) c.4977C>T (p.His1659=) c.9492C>T (p.His3164=) | |
5 | g.13752272G>C | CA3202104 | DNAH5 | c.10890C>G (p.His3630Gln) c.10845C>G (p.His3615Gln) c.10998C>G (p.His3666Gln) c.9903C>G (p.His3301Gln) c.6087C>G (p.His2029Gln) c.5640C>G (p.His1880Gln) c.4977C>G (p.His1659Gln) c.9492C>G (p.His3164Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13752272G= | CA1528422971 | DNAH5 | c.10890C= (p.His3630=) c.10845C= (p.His3615=) c.10998C= (p.His3666=) c.9903C= (p.His3301=) c.6087C= (p.His2029=) c.5640C= (p.His1880=) c.4977C= (p.His1659=) c.9492C= (p.His3164=) | |
5 | g.13752272G>T | CA359190503 | DNAH5 | c.10890C>A (p.His3630Gln) c.10845C>A (p.His3615Gln) c.10998C>A (p.His3666Gln) c.9903C>A (p.His3301Gln) c.6087C>A (p.His2029Gln) c.5640C>A (p.His1880Gln) c.4977C>A (p.His1659Gln) c.9492C>A (p.His3164Gln) | gnomAD v4 |
5 | g.13752273T>A | CA359190505 | DNAH5 | c.10889A>T (p.His3630Leu) c.10844A>T (p.His3615Leu) c.10997A>T (p.His3666Leu) c.9902A>T (p.His3301Leu) c.6086A>T (p.His2029Leu) c.5639A>T (p.His1880Leu) c.4976A>T (p.His1659Leu) c.9491A>T (p.His3164Leu) | |
5 | g.13752273T>C | CA359190506 | DNAH5 | c.10889A>G (p.His3630Arg) c.10844A>G (p.His3615Arg) c.10997A>G (p.His3666Arg) c.9902A>G (p.His3301Arg) c.6086A>G (p.His2029Arg) c.5639A>G (p.His1880Arg) c.4976A>G (p.His1659Arg) c.9491A>G (p.His3164Arg) | gnomAD v4 |
5 | g.13752273T>G | CA359190507 | DNAH5 | c.10889A>C (p.His3630Pro) c.10844A>C (p.His3615Pro) c.10997A>C (p.His3666Pro) c.9902A>C (p.His3301Pro) c.6086A>C (p.His2029Pro) c.5639A>C (p.His1880Pro) c.4976A>C (p.His1659Pro) c.9491A>C (p.His3164Pro) | |
5 | g.13752274G>A | CA359190509 | DNAH5 | c.10888C>T (p.His3630Tyr) c.10843C>T (p.His3615Tyr) c.10996C>T (p.His3666Tyr) c.9901C>T (p.His3301Tyr) c.6085C>T (p.His2029Tyr) c.5638C>T (p.His1880Tyr) c.4975C>T (p.His1659Tyr) c.9490C>T (p.His3164Tyr) | ClinVar dbSNP COSMIC |
5 | g.13752274G>C | CA359190512 | DNAH5 | c.10888C>G (p.His3630Asp) c.10843C>G (p.His3615Asp) c.10996C>G (p.His3666Asp) c.9901C>G (p.His3301Asp) c.6085C>G (p.His2029Asp) c.5638C>G (p.His1880Asp) c.4975C>G (p.His1659Asp) c.9490C>G (p.His3164Asp) | COSMIC |
5 | g.13752274G= | CA1528422972 | DNAH5 | c.10888C= (p.His3630=) c.10843C= (p.His3615=) c.10996C= (p.His3666=) c.9901C= (p.His3301=) c.6085C= (p.His2029=) c.5638C= (p.His1880=) c.4975C= (p.His1659=) c.9490C= (p.His3164=) | |
5 | g.13752274G>T | CA359190510 | DNAH5 | c.10888C>A (p.His3630Asn) c.10843C>A (p.His3615Asn) c.10996C>A (p.His3666Asn) c.9901C>A (p.His3301Asn) c.6085C>A (p.His2029Asn) c.5638C>A (p.His1880Asn) c.4975C>A (p.His1659Asn) c.9490C>A (p.His3164Asn) | |
5 | g.13752275A>C | CA359190514 | DNAH5 | c.10887T>G (p.Asn3629Lys) c.10842T>G (p.Asn3614Lys) c.10995T>G (p.Asn3665Lys) c.9900T>G (p.Asn3300Lys) c.6084T>G (p.Asn2028Lys) c.5637T>G (p.Asn1879Lys) c.4974T>G (p.Asn1658Lys) c.9489T>G (p.Asn3163Lys) | |
5 | g.13752275A>G | CA443248752 | DNAH5 | c.10887T>C (p.Asn3629=) c.10842T>C (p.Asn3614=) c.10995T>C (p.Asn3665=) c.9900T>C (p.Asn3300=) c.6084T>C (p.Asn2028=) c.5637T>C (p.Asn1879=) c.4974T>C (p.Asn1658=) c.9489T>C (p.Asn3163=) | |
5 | g.13752275A>T | CA359190516 | DNAH5 | c.10887T>A (p.Asn3629Lys) c.10842T>A (p.Asn3614Lys) c.10995T>A (p.Asn3665Lys) c.9900T>A (p.Asn3300Lys) c.6084T>A (p.Asn2028Lys) c.5637T>A (p.Asn1879Lys) c.4974T>A (p.Asn1658Lys) c.9489T>A (p.Asn3163Lys) | |
5 | g.13752276T>A | CA359190518 | DNAH5 | c.10886A>T (p.Asn3629Ile) c.10841A>T (p.Asn3614Ile) c.10994A>T (p.Asn3665Ile) c.9899A>T (p.Asn3300Ile) c.6083A>T (p.Asn2028Ile) c.5636A>T (p.Asn1879Ile) c.4973A>T (p.Asn1658Ile) c.9488A>T (p.Asn3163Ile) | |
5 | g.13752276T>C | CA359190520 | DNAH5 | c.10886A>G (p.Asn3629Ser) c.10841A>G (p.Asn3614Ser) c.10994A>G (p.Asn3665Ser) c.9899A>G (p.Asn3300Ser) c.6083A>G (p.Asn2028Ser) c.5636A>G (p.Asn1879Ser) c.4973A>G (p.Asn1658Ser) c.9488A>G (p.Asn3163Ser) | |
5 | g.13752276T>G | CA359190522 | DNAH5 | c.10886A>C (p.Asn3629Thr) c.10841A>C (p.Asn3614Thr) c.10994A>C (p.Asn3665Thr) c.9899A>C (p.Asn3300Thr) c.6083A>C (p.Asn2028Thr) c.5636A>C (p.Asn1879Thr) c.4973A>C (p.Asn1658Thr) c.9488A>C (p.Asn3163Thr) | ClinVar dbSNP gnomAD v4 |
5 | g.13752277T>A | CA359190525 | DNAH5 | c.10885A>T (p.Asn3629Tyr) c.10840A>T (p.Asn3614Tyr) c.10993A>T (p.Asn3665Tyr) c.9898A>T (p.Asn3300Tyr) c.6082A>T (p.Asn2028Tyr) c.5635A>T (p.Asn1879Tyr) c.4972A>T (p.Asn1658Tyr) c.9487A>T (p.Asn3163Tyr) | |
5 | g.13752277T>C | CA359190527 | DNAH5 | c.10885A>G (p.Asn3629Asp) c.10840A>G (p.Asn3614Asp) c.10993A>G (p.Asn3665Asp) c.9898A>G (p.Asn3300Asp) c.6082A>G (p.Asn2028Asp) c.5635A>G (p.Asn1879Asp) c.4972A>G (p.Asn1658Asp) c.9487A>G (p.Asn3163Asp) | |
5 | g.13752277T>G | CA359190528 | DNAH5 | c.10885A>C (p.Asn3629His) c.10840A>C (p.Asn3614His) c.10993A>C (p.Asn3665His) c.9898A>C (p.Asn3300His) c.6082A>C (p.Asn2028His) c.5635A>C (p.Asn1879His) c.4972A>C (p.Asn1658His) c.9487A>C (p.Asn3163His) | |
5 | g.13752278T>A | CA359190531 | DNAH5 | c.10884A>T (p.Leu3628Phe) c.10839A>T (p.Leu3613Phe) c.10992A>T (p.Leu3664Phe) c.9897A>T (p.Leu3299Phe) c.6081A>T (p.Leu2027Phe) c.5634A>T (p.Leu1878Phe) c.4971A>T (p.Leu1657Phe) c.9486A>T (p.Leu3162Phe) | |
5 | g.13752278T>C | CA443248756 | DNAH5 | c.10884A>G (p.Leu3628=) c.10839A>G (p.Leu3613=) c.10992A>G (p.Leu3664=) c.9897A>G (p.Leu3299=) c.6081A>G (p.Leu2027=) c.5634A>G (p.Leu1878=) c.4971A>G (p.Leu1657=) c.9486A>G (p.Leu3162=) | gnomAD v4 |
5 | g.13752278T>G | CA359190533 | DNAH5 | c.10884A>C (p.Leu3628Phe) c.10839A>C (p.Leu3613Phe) c.10992A>C (p.Leu3664Phe) c.9897A>C (p.Leu3299Phe) c.6081A>C (p.Leu2027Phe) c.5634A>C (p.Leu1878Phe) c.4971A>C (p.Leu1657Phe) c.9486A>C (p.Leu3162Phe) |