Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13753384_13753433del | CA2527990983 | DNAH5 | c.10672_10721del (p.Gly3558Ter) c.10627_10676del (p.Gly3543Ter) c.10780_10829del (p.Gly3594Ter) c.9685_9734del (p.Gly3229Ter) c.5869_5918del (p.Gly1957Ter) c.5422_5471del (p.Gly1808Ter) c.4759_4808del (p.Gly1587Ter) c.9274_9323del (p.Gly3092Ter) | |
5 | g.13753410C>A | CA359191730 | DNAH5 | c.10695G>T (p.Glu3565Asp) c.10650G>T (p.Glu3550Asp) c.10803G>T (p.Glu3601Asp) c.9708G>T (p.Glu3236Asp) c.5892G>T (p.Glu1964Asp) c.5445G>T (p.Glu1815Asp) c.4782G>T (p.Glu1594Asp) c.9297G>T (p.Glu3099Asp) | |
5 | g.13753410C>G | CA359191729 | DNAH5 | c.10695G>C (p.Glu3565Asp) c.10650G>C (p.Glu3550Asp) c.10803G>C (p.Glu3601Asp) c.9708G>C (p.Glu3236Asp) c.5892G>C (p.Glu1964Asp) c.5445G>C (p.Glu1815Asp) c.4782G>C (p.Glu1594Asp) c.9297G>C (p.Glu3099Asp) | |
5 | g.13753410C>T | CA443535807 | DNAH5 | c.10695G>A (p.Glu3565=) c.10650G>A (p.Glu3550=) c.10803G>A (p.Glu3601=) c.9708G>A (p.Glu3236=) c.5892G>A (p.Glu1964=) c.5445G>A (p.Glu1815=) c.4782G>A (p.Glu1594=) c.9297G>A (p.Glu3099=) | gnomAD v4 |
5 | g.13753411T>A | CA359191735 | DNAH5 | c.10694A>T (p.Glu3565Val) c.10649A>T (p.Glu3550Val) c.10802A>T (p.Glu3601Val) c.9707A>T (p.Glu3236Val) c.5891A>T (p.Glu1964Val) c.5444A>T (p.Glu1815Val) c.4781A>T (p.Glu1594Val) c.9296A>T (p.Glu3099Val) | |
5 | g.13753411T>C | CA359191737 | DNAH5 | c.10694A>G (p.Glu3565Gly) c.10649A>G (p.Glu3550Gly) c.10802A>G (p.Glu3601Gly) c.9707A>G (p.Glu3236Gly) c.5891A>G (p.Glu1964Gly) c.5444A>G (p.Glu1815Gly) c.4781A>G (p.Glu1594Gly) c.9296A>G (p.Glu3099Gly) | |
5 | g.13753411T>G | CA359191739 | DNAH5 | c.10694A>C (p.Glu3565Ala) c.10649A>C (p.Glu3550Ala) c.10802A>C (p.Glu3601Ala) c.9707A>C (p.Glu3236Ala) c.5891A>C (p.Glu1964Ala) c.5444A>C (p.Glu1815Ala) c.4781A>C (p.Glu1594Ala) c.9296A>C (p.Glu3099Ala) | |
5 | g.13753412C>A | CA359191743 | DNAH5 | c.10693G>T (p.Glu3565Ter) c.10648G>T (p.Glu3550Ter) c.10801G>T (p.Glu3601Ter) c.9706G>T (p.Glu3236Ter) c.5890G>T (p.Glu1964Ter) c.5443G>T (p.Glu1815Ter) c.4780G>T (p.Glu1594Ter) c.9295G>T (p.Glu3099Ter) | |
5 | g.13753412C>G | CA359191745 | DNAH5 | c.10693G>C (p.Glu3565Gln) c.10648G>C (p.Glu3550Gln) c.10801G>C (p.Glu3601Gln) c.9706G>C (p.Glu3236Gln) c.5890G>C (p.Glu1964Gln) c.5443G>C (p.Glu1815Gln) c.4780G>C (p.Glu1594Gln) c.9295G>C (p.Glu3099Gln) | |
5 | g.13753412C>T | CA359191747 | DNAH5 | c.10693G>A (p.Glu3565Lys) c.10648G>A (p.Glu3550Lys) c.10801G>A (p.Glu3601Lys) c.9706G>A (p.Glu3236Lys) c.5890G>A (p.Glu1964Lys) c.5443G>A (p.Glu1815Lys) c.4780G>A (p.Glu1594Lys) c.9295G>A (p.Glu3099Lys) | gnomAD v4 |
5 | g.13753413A>C | CA359191749 | DNAH5 | c.10692T>G (p.Ser3564Arg) c.10647T>G (p.Ser3549Arg) c.10800T>G (p.Ser3600Arg) c.9705T>G (p.Ser3235Arg) c.5889T>G (p.Ser1963Arg) c.5442T>G (p.Ser1814Arg) c.4779T>G (p.Ser1593Arg) c.9294T>G (p.Ser3098Arg) | gnomAD v4 |
5 | g.13753413A>G | CA443535816 | DNAH5 | c.10692T>C (p.Ser3564=) c.10647T>C (p.Ser3549=) c.10800T>C (p.Ser3600=) c.9705T>C (p.Ser3235=) c.5889T>C (p.Ser1963=) c.5442T>C (p.Ser1814=) c.4779T>C (p.Ser1593=) c.9294T>C (p.Ser3098=) | |
5 | g.13753413A>T | CA359191748 | DNAH5 | c.10692T>A (p.Ser3564Arg) c.10647T>A (p.Ser3549Arg) c.10800T>A (p.Ser3600Arg) c.9705T>A (p.Ser3235Arg) c.5889T>A (p.Ser1963Arg) c.5442T>A (p.Ser1814Arg) c.4779T>A (p.Ser1593Arg) c.9294T>A (p.Ser3098Arg) | |
5 | g.13753414C>A | CA359191752 | DNAH5 | c.10691G>T (p.Ser3564Ile) c.10646G>T (p.Ser3549Ile) c.10799G>T (p.Ser3600Ile) c.9704G>T (p.Ser3235Ile) c.5888G>T (p.Ser1963Ile) c.5441G>T (p.Ser1814Ile) c.4778G>T (p.Ser1593Ile) c.9293G>T (p.Ser3098Ile) | |
5 | g.13753414C>G | CA359191754 | DNAH5 | c.10691G>C (p.Ser3564Thr) c.10646G>C (p.Ser3549Thr) c.10799G>C (p.Ser3600Thr) c.9704G>C (p.Ser3235Thr) c.5888G>C (p.Ser1963Thr) c.5441G>C (p.Ser1814Thr) c.4778G>C (p.Ser1593Thr) c.9293G>C (p.Ser3098Thr) | |
5 | g.13753414C>T | CA359191756 | DNAH5 | c.10691G>A (p.Ser3564Asn) c.10646G>A (p.Ser3549Asn) c.10799G>A (p.Ser3600Asn) c.9704G>A (p.Ser3235Asn) c.5888G>A (p.Ser1963Asn) c.5441G>A (p.Ser1814Asn) c.4778G>A (p.Ser1593Asn) c.9293G>A (p.Ser3098Asn) | gnomAD v4 |
5 | g.13753415T>A | CA359191758 | DNAH5 | c.10690A>T (p.Ser3564Cys) c.10645A>T (p.Ser3549Cys) c.10798A>T (p.Ser3600Cys) c.9703A>T (p.Ser3235Cys) c.5887A>T (p.Ser1963Cys) c.5440A>T (p.Ser1814Cys) c.4777A>T (p.Ser1593Cys) c.9292A>T (p.Ser3098Cys) | |
5 | g.13753415T>C | CA359191760 | DNAH5 | c.10690A>G (p.Ser3564Gly) c.10645A>G (p.Ser3549Gly) c.10798A>G (p.Ser3600Gly) c.9703A>G (p.Ser3235Gly) c.5887A>G (p.Ser1963Gly) c.5440A>G (p.Ser1814Gly) c.4777A>G (p.Ser1593Gly) c.9292A>G (p.Ser3098Gly) | |
5 | g.13753415T>G | CA359191762 | DNAH5 | c.10690A>C (p.Ser3564Arg) c.10645A>C (p.Ser3549Arg) c.10798A>C (p.Ser3600Arg) c.9703A>C (p.Ser3235Arg) c.5887A>C (p.Ser1963Arg) c.5440A>C (p.Ser1814Arg) c.4777A>C (p.Ser1593Arg) c.9292A>C (p.Ser3098Arg) | ClinVar dbSNP gnomAD v4 |
5 | g.13753416G>A | CA443535821 | DNAH5 | c.10689C>T (p.Leu3563=) c.10644C>T (p.Leu3548=) c.10797C>T (p.Leu3599=) c.9702C>T (p.Leu3234=) c.5886C>T (p.Leu1962=) c.5439C>T (p.Leu1813=) c.4776C>T (p.Leu1592=) c.9291C>T (p.Leu3097=) | |
5 | g.13753416G>C | CA443535823 | DNAH5 | c.10689C>G (p.Leu3563=) c.10644C>G (p.Leu3548=) c.10797C>G (p.Leu3599=) c.9702C>G (p.Leu3234=) c.5886C>G (p.Leu1962=) c.5439C>G (p.Leu1813=) c.4776C>G (p.Leu1592=) c.9291C>G (p.Leu3097=) | |
5 | g.13753416G>T | CA443535824 | DNAH5 | c.10689C>A (p.Leu3563=) c.10644C>A (p.Leu3548=) c.10797C>A (p.Leu3599=) c.9702C>A (p.Leu3234=) c.5886C>A (p.Leu1962=) c.5439C>A (p.Leu1813=) c.4776C>A (p.Leu1592=) c.9291C>A (p.Leu3097=) | |
5 | g.13753417A>C | CA359191766 | DNAH5 | c.10688T>G (p.Leu3563Arg) c.10643T>G (p.Leu3548Arg) c.10796T>G (p.Leu3599Arg) c.9701T>G (p.Leu3234Arg) c.5885T>G (p.Leu1962Arg) c.5438T>G (p.Leu1813Arg) c.4775T>G (p.Leu1592Arg) c.9290T>G (p.Leu3097Arg) | |
5 | g.13753417A>G | CA359191770 | DNAH5 | c.10688T>C (p.Leu3563Pro) c.10643T>C (p.Leu3548Pro) c.10796T>C (p.Leu3599Pro) c.9701T>C (p.Leu3234Pro) c.5885T>C (p.Leu1962Pro) c.5438T>C (p.Leu1813Pro) c.4775T>C (p.Leu1592Pro) c.9290T>C (p.Leu3097Pro) | |
5 | g.13753417A>T | CA359191768 | DNAH5 | c.10688T>A (p.Leu3563His) c.10643T>A (p.Leu3548His) c.10796T>A (p.Leu3599His) c.9701T>A (p.Leu3234His) c.5885T>A (p.Leu1962His) c.5438T>A (p.Leu1813His) c.4775T>A (p.Leu1592His) c.9290T>A (p.Leu3097His) | |
5 | g.13753418G>A | CA359191772 | DNAH5 | c.10687C>T (p.Leu3563Phe) c.10642C>T (p.Leu3548Phe) c.10795C>T (p.Leu3599Phe) c.9700C>T (p.Leu3234Phe) c.5884C>T (p.Leu1962Phe) c.5437C>T (p.Leu1813Phe) c.4774C>T (p.Leu1592Phe) c.9289C>T (p.Leu3097Phe) | |
5 | g.13753418G>C | CA359191773 | DNAH5 | c.10687C>G (p.Leu3563Val) c.10642C>G (p.Leu3548Val) c.10795C>G (p.Leu3599Val) c.9700C>G (p.Leu3234Val) c.5884C>G (p.Leu1962Val) c.5437C>G (p.Leu1813Val) c.4774C>G (p.Leu1592Val) c.9289C>G (p.Leu3097Val) | |
5 | g.13753418G= | CA1528423503 | DNAH5 | c.10687C= (p.Leu3563=) c.10642C= (p.Leu3548=) c.10795C= (p.Leu3599=) c.9700C= (p.Leu3234=) c.5884C= (p.Leu1962=) c.5437C= (p.Leu1813=) c.4774C= (p.Leu1592=) c.9289C= (p.Leu3097=) | |
5 | g.13753418G>T | CA359191776 | DNAH5 | c.10687C>A (p.Leu3563Ile) c.10642C>A (p.Leu3548Ile) c.10795C>A (p.Leu3599Ile) c.9700C>A (p.Leu3234Ile) c.5884C>A (p.Leu1962Ile) c.5437C>A (p.Leu1813Ile) c.4774C>A (p.Leu1592Ile) c.9289C>A (p.Leu3097Ile) | dbSNP |
5 | g.13753419A>C | CA359191778 | DNAH5 | c.10686T>G (p.Asn3562Lys) c.10641T>G (p.Asn3547Lys) c.10794T>G (p.Asn3598Lys) c.9699T>G (p.Asn3233Lys) c.5883T>G (p.Asn1961Lys) c.5436T>G (p.Asn1812Lys) c.4773T>G (p.Asn1591Lys) c.9288T>G (p.Asn3096Lys) | |
5 | g.13753419A>G | CA443535831 | DNAH5 | c.10686T>C (p.Asn3562=) c.10641T>C (p.Asn3547=) c.10794T>C (p.Asn3598=) c.9699T>C (p.Asn3233=) c.5883T>C (p.Asn1961=) c.5436T>C (p.Asn1812=) c.4773T>C (p.Asn1591=) c.9288T>C (p.Asn3096=) | |
5 | g.13753419A>T | CA359191782 | DNAH5 | c.10686T>A (p.Asn3562Lys) c.10641T>A (p.Asn3547Lys) c.10794T>A (p.Asn3598Lys) c.9699T>A (p.Asn3233Lys) c.5883T>A (p.Asn1961Lys) c.5436T>A (p.Asn1812Lys) c.4773T>A (p.Asn1591Lys) c.9288T>A (p.Asn3096Lys) | |
5 | g.13753420T>A | CA359191785 | DNAH5 | c.10685A>T (p.Asn3562Ile) c.10640A>T (p.Asn3547Ile) c.10793A>T (p.Asn3598Ile) c.9698A>T (p.Asn3233Ile) c.5882A>T (p.Asn1961Ile) c.5435A>T (p.Asn1812Ile) c.4772A>T (p.Asn1591Ile) c.9287A>T (p.Asn3096Ile) | |
5 | g.13753420T>C | CA359191788 | DNAH5 | c.10685A>G (p.Asn3562Ser) c.10640A>G (p.Asn3547Ser) c.10793A>G (p.Asn3598Ser) c.9698A>G (p.Asn3233Ser) c.5882A>G (p.Asn1961Ser) c.5435A>G (p.Asn1812Ser) c.4772A>G (p.Asn1591Ser) c.9287A>G (p.Asn3096Ser) | |
5 | g.13753420T>G | CA359191790 | DNAH5 | c.10685A>C (p.Asn3562Thr) c.10640A>C (p.Asn3547Thr) c.10793A>C (p.Asn3598Thr) c.9698A>C (p.Asn3233Thr) c.5882A>C (p.Asn1961Thr) c.5435A>C (p.Asn1812Thr) c.4772A>C (p.Asn1591Thr) c.9287A>C (p.Asn3096Thr) | |
5 | g.13753421T>A | CA359191793 | DNAH5 | c.10684A>T (p.Asn3562Tyr) c.10639A>T (p.Asn3547Tyr) c.10792A>T (p.Asn3598Tyr) c.9697A>T (p.Asn3233Tyr) c.5881A>T (p.Asn1961Tyr) c.5434A>T (p.Asn1812Tyr) c.4771A>T (p.Asn1591Tyr) c.9286A>T (p.Asn3096Tyr) | |
5 | g.13753421T>C | CA359191795 | DNAH5 | c.10684A>G (p.Asn3562Asp) c.10639A>G (p.Asn3547Asp) c.10792A>G (p.Asn3598Asp) c.9697A>G (p.Asn3233Asp) c.5881A>G (p.Asn1961Asp) c.5434A>G (p.Asn1812Asp) c.4771A>G (p.Asn1591Asp) c.9286A>G (p.Asn3096Asp) | gnomAD v4 |
5 | g.13753421T>G | CA359191798 | DNAH5 | c.10684A>C (p.Asn3562His) c.10639A>C (p.Asn3547His) c.10792A>C (p.Asn3598His) c.9697A>C (p.Asn3233His) c.5881A>C (p.Asn1961His) c.5434A>C (p.Asn1812His) c.4771A>C (p.Asn1591His) c.9286A>C (p.Asn3096His) | |
5 | g.13753422T>A | CA443535839 | DNAH5 | c.10683A>T (p.Leu3561=) c.10638A>T (p.Leu3546=) c.10791A>T (p.Leu3597=) c.9696A>T (p.Leu3232=) c.5880A>T (p.Leu1960=) c.5433A>T (p.Leu1811=) c.4770A>T (p.Leu1590=) c.9285A>T (p.Leu3095=) | |
5 | g.13753422T>C | CA443535842 | DNAH5 | c.10683A>G (p.Leu3561=) c.10638A>G (p.Leu3546=) c.10791A>G (p.Leu3597=) c.9696A>G (p.Leu3232=) c.5880A>G (p.Leu1960=) c.5433A>G (p.Leu1811=) c.4770A>G (p.Leu1590=) c.9285A>G (p.Leu3095=) | |
5 | g.13753422T>G | CA443535837 | DNAH5 | c.10683A>C (p.Leu3561=) c.10638A>C (p.Leu3546=) c.10791A>C (p.Leu3597=) c.9696A>C (p.Leu3232=) c.5880A>C (p.Leu1960=) c.5433A>C (p.Leu1811=) c.4770A>C (p.Leu1590=) c.9285A>C (p.Leu3095=) | |
5 | g.13753423A>C | CA359191806 | DNAH5 | c.10682T>G (p.Leu3561Arg) c.10637T>G (p.Leu3546Arg) c.10790T>G (p.Leu3597Arg) c.9695T>G (p.Leu3232Arg) c.5879T>G (p.Leu1960Arg) c.5432T>G (p.Leu1811Arg) c.4769T>G (p.Leu1590Arg) c.9284T>G (p.Leu3095Arg) | |
5 | g.13753423A>G | CA359191803 | DNAH5 | c.10682T>C (p.Leu3561Pro) c.10637T>C (p.Leu3546Pro) c.10790T>C (p.Leu3597Pro) c.9695T>C (p.Leu3232Pro) c.5879T>C (p.Leu1960Pro) c.5432T>C (p.Leu1811Pro) c.4769T>C (p.Leu1590Pro) c.9284T>C (p.Leu3095Pro) | |
5 | g.13753423A>T | CA359191801 | DNAH5 | c.10682T>A (p.Leu3561Gln) c.10637T>A (p.Leu3546Gln) c.10790T>A (p.Leu3597Gln) c.9695T>A (p.Leu3232Gln) c.5879T>A (p.Leu1960Gln) c.5432T>A (p.Leu1811Gln) c.4769T>A (p.Leu1590Gln) c.9284T>A (p.Leu3095Gln) | |
5 | g.13753424G>A | CA443535843 | DNAH5 | c.10681C>T (p.Leu3561=) c.10636C>T (p.Leu3546=) c.10789C>T (p.Leu3597=) c.9694C>T (p.Leu3232=) c.5878C>T (p.Leu1960=) c.5431C>T (p.Leu1811=) c.4768C>T (p.Leu1590=) c.9283C>T (p.Leu3095=) | dbSNP |
5 | g.13753424G>C | CA359191809 | DNAH5 | c.10681C>G (p.Leu3561Val) c.10636C>G (p.Leu3546Val) c.10789C>G (p.Leu3597Val) c.9694C>G (p.Leu3232Val) c.5878C>G (p.Leu1960Val) c.5431C>G (p.Leu1811Val) c.4768C>G (p.Leu1590Val) c.9283C>G (p.Leu3095Val) | ClinVar |
5 | g.13753424G= | CA1528423504 | DNAH5 | c.10681C= (p.Leu3561=) c.10636C= (p.Leu3546=) c.10789C= (p.Leu3597=) c.9694C= (p.Leu3232=) c.5878C= (p.Leu1960=) c.5431C= (p.Leu1811=) c.4768C= (p.Leu1590=) c.9283C= (p.Leu3095=) | |
5 | g.13753424G>T | CA359191812 | DNAH5 | c.10681C>A (p.Leu3561Ile) c.10636C>A (p.Leu3546Ile) c.10789C>A (p.Leu3597Ile) c.9694C>A (p.Leu3232Ile) c.5878C>A (p.Leu1960Ile) c.5431C>A (p.Leu1811Ile) c.4768C>A (p.Leu1590Ile) c.9283C>A (p.Leu3095Ile) | |
5 | g.13753425G>A | CA3202156 | DNAH5 | c.10680C>T (p.Asn3560=) c.10635C>T (p.Asn3545=) c.10788C>T (p.Asn3596=) c.9693C>T (p.Asn3231=) c.5877C>T (p.Asn1959=) c.5430C>T (p.Asn1810=) c.4767C>T (p.Asn1589=) c.9282C>T (p.Asn3094=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753425G>C | CA359191817 | DNAH5 | c.10680C>G (p.Asn3560Lys) c.10635C>G (p.Asn3545Lys) c.10788C>G (p.Asn3596Lys) c.9693C>G (p.Asn3231Lys) c.5877C>G (p.Asn1959Lys) c.5430C>G (p.Asn1810Lys) c.4767C>G (p.Asn1589Lys) c.9282C>G (p.Asn3094Lys) | dbSNP |
5 | g.13753425G= | CA1528423505 | DNAH5 | c.10680C= (p.Asn3560=) c.10635C= (p.Asn3545=) c.10788C= (p.Asn3596=) c.9693C= (p.Asn3231=) c.5877C= (p.Asn1959=) c.5430C= (p.Asn1810=) c.4767C= (p.Asn1589=) c.9282C= (p.Asn3094=) | |
5 | g.13753425G>T | CA3202157 | DNAH5 | c.10680C>A (p.Asn3560Lys) c.10635C>A (p.Asn3545Lys) c.10788C>A (p.Asn3596Lys) c.9693C>A (p.Asn3231Lys) c.5877C>A (p.Asn1959Lys) c.5430C>A (p.Asn1810Lys) c.4767C>A (p.Asn1589Lys) c.9282C>A (p.Asn3094Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13753426T>A | CA359191819 | DNAH5 | c.10679A>T (p.Asn3560Ile) c.10634A>T (p.Asn3545Ile) c.10787A>T (p.Asn3596Ile) c.9692A>T (p.Asn3231Ile) c.5876A>T (p.Asn1959Ile) c.5429A>T (p.Asn1810Ile) c.4766A>T (p.Asn1589Ile) c.9281A>T (p.Asn3094Ile) | COSMIC |
5 | g.13753426T>C | CA359191820 | DNAH5 | c.10679A>G (p.Asn3560Ser) c.10634A>G (p.Asn3545Ser) c.10787A>G (p.Asn3596Ser) c.9692A>G (p.Asn3231Ser) c.5876A>G (p.Asn1959Ser) c.5429A>G (p.Asn1810Ser) c.4766A>G (p.Asn1589Ser) c.9281A>G (p.Asn3094Ser) | |
5 | g.13753426T>G | CA359191822 | DNAH5 | c.10679A>C (p.Asn3560Thr) c.10634A>C (p.Asn3545Thr) c.10787A>C (p.Asn3596Thr) c.9692A>C (p.Asn3231Thr) c.5876A>C (p.Asn1959Thr) c.5429A>C (p.Asn1810Thr) c.4766A>C (p.Asn1589Thr) c.9281A>C (p.Asn3094Thr) | |
5 | g.13753427T>A | CA359191824 | DNAH5 | c.10678A>T (p.Asn3560Tyr) c.10633A>T (p.Asn3545Tyr) c.10786A>T (p.Asn3596Tyr) c.9691A>T (p.Asn3231Tyr) c.5875A>T (p.Asn1959Tyr) c.5428A>T (p.Asn1810Tyr) c.4765A>T (p.Asn1589Tyr) c.9280A>T (p.Asn3094Tyr) | COSMIC |
5 | g.13753427T>C | CA359191827 | DNAH5 | c.10678A>G (p.Asn3560Asp) c.10633A>G (p.Asn3545Asp) c.10786A>G (p.Asn3596Asp) c.9691A>G (p.Asn3231Asp) c.5875A>G (p.Asn1959Asp) c.5428A>G (p.Asn1810Asp) c.4765A>G (p.Asn1589Asp) c.9280A>G (p.Asn3094Asp) | |
5 | g.13753427T>G | CA359191830 | DNAH5 | c.10678A>C (p.Asn3560His) c.10633A>C (p.Asn3545His) c.10786A>C (p.Asn3596His) c.9691A>C (p.Asn3231His) c.5875A>C (p.Asn1959His) c.5428A>C (p.Asn1810His) c.4765A>C (p.Asn1589His) c.9280A>C (p.Asn3094His) | |
5 | g.13753428C>A | CA359191834 | DNAH5 | c.10677G>T (p.Lys3559Asn) c.10632G>T (p.Lys3544Asn) c.10785G>T (p.Lys3595Asn) c.9690G>T (p.Lys3230Asn) c.5874G>T (p.Lys1958Asn) c.5427G>T (p.Lys1809Asn) c.4764G>T (p.Lys1588Asn) c.9279G>T (p.Lys3093Asn) | COSMIC |
5 | g.13753428C>G | CA359191835 | DNAH5 | c.10677G>C (p.Lys3559Asn) c.10632G>C (p.Lys3544Asn) c.10785G>C (p.Lys3595Asn) c.9690G>C (p.Lys3230Asn) c.5874G>C (p.Lys1958Asn) c.5427G>C (p.Lys1809Asn) c.4764G>C (p.Lys1588Asn) c.9279G>C (p.Lys3093Asn) | |
5 | g.13753428C>T | CA443535855 | DNAH5 | c.10677G>A (p.Lys3559=) c.10632G>A (p.Lys3544=) c.10785G>A (p.Lys3595=) c.9690G>A (p.Lys3230=) c.5874G>A (p.Lys1958=) c.5427G>A (p.Lys1809=) c.4764G>A (p.Lys1588=) c.9279G>A (p.Lys3093=) | |
5 | g.13753429T>A | CA359191837 | DNAH5 | c.10676A>T (p.Lys3559Met) c.10631A>T (p.Lys3544Met) c.10784A>T (p.Lys3595Met) c.9689A>T (p.Lys3230Met) c.5873A>T (p.Lys1958Met) c.5426A>T (p.Lys1809Met) c.4763A>T (p.Lys1588Met) c.9278A>T (p.Lys3093Met) | |
5 | g.13753429T>C | CA359191840 | DNAH5 | c.10676A>G (p.Lys3559Arg) c.10631A>G (p.Lys3544Arg) c.10784A>G (p.Lys3595Arg) c.9689A>G (p.Lys3230Arg) c.5873A>G (p.Lys1958Arg) c.5426A>G (p.Lys1809Arg) c.4763A>G (p.Lys1588Arg) c.9278A>G (p.Lys3093Arg) | gnomAD v4 |
5 | g.13753429T>G | CA359191843 | DNAH5 | c.10676A>C (p.Lys3559Thr) c.10631A>C (p.Lys3544Thr) c.10784A>C (p.Lys3595Thr) c.9689A>C (p.Lys3230Thr) c.5873A>C (p.Lys1958Thr) c.5426A>C (p.Lys1809Thr) c.4763A>C (p.Lys1588Thr) c.9278A>C (p.Lys3093Thr) | |
5 | g.13753430T>A | CA359191851 | DNAH5 | c.10675A>T (p.Lys3559Ter) c.10630A>T (p.Lys3544Ter) c.10783A>T (p.Lys3595Ter) c.9688A>T (p.Lys3230Ter) c.5872A>T (p.Lys1958Ter) c.5425A>T (p.Lys1809Ter) c.4762A>T (p.Lys1588Ter) c.9277A>T (p.Lys3093Ter) | |
5 | g.13753430T>C | CA359191846 | DNAH5 | c.10675A>G (p.Lys3559Glu) c.10630A>G (p.Lys3544Glu) c.10783A>G (p.Lys3595Glu) c.9688A>G (p.Lys3230Glu) c.5872A>G (p.Lys1958Glu) c.5425A>G (p.Lys1809Glu) c.4762A>G (p.Lys1588Glu) c.9277A>G (p.Lys3093Glu) | |
5 | g.13753430T>G | CA359191848 | DNAH5 | c.10675A>C (p.Lys3559Gln) c.10630A>C (p.Lys3544Gln) c.10783A>C (p.Lys3595Gln) c.9688A>C (p.Lys3230Gln) c.5872A>C (p.Lys1958Gln) c.5425A>C (p.Lys1809Gln) c.4762A>C (p.Lys1588Gln) c.9277A>C (p.Lys3093Gln) | |
5 | g.13753431T>A | CA443535866 | DNAH5 | c.10674A>T (p.Gly3558=) c.10629A>T (p.Gly3543=) c.10782A>T (p.Gly3594=) c.9687A>T (p.Gly3229=) c.5871A>T (p.Gly1957=) c.5424A>T (p.Gly1808=) c.4761A>T (p.Gly1587=) c.9276A>T (p.Gly3092=) | |
5 | g.13753431T>C | CA443535868 | DNAH5 | c.10674A>G (p.Gly3558=) c.10629A>G (p.Gly3543=) c.10782A>G (p.Gly3594=) c.9687A>G (p.Gly3229=) c.5871A>G (p.Gly1957=) c.5424A>G (p.Gly1808=) c.4761A>G (p.Gly1587=) c.9276A>G (p.Gly3092=) | |
5 | g.13753431T>G | CA443535867 | DNAH5 | c.10674A>C (p.Gly3558=) c.10629A>C (p.Gly3543=) c.10782A>C (p.Gly3594=) c.9687A>C (p.Gly3229=) c.5871A>C (p.Gly1957=) c.5424A>C (p.Gly1808=) c.4761A>C (p.Gly1587=) c.9276A>C (p.Gly3092=) | |
5 | g.13753432C>A | CA359191855 | DNAH5 | c.10673G>T (p.Gly3558Val) c.10628G>T (p.Gly3543Val) c.10781G>T (p.Gly3594Val) c.9686G>T (p.Gly3229Val) c.5870G>T (p.Gly1957Val) c.5423G>T (p.Gly1808Val) c.4760G>T (p.Gly1587Val) c.9275G>T (p.Gly3092Val) | |
5 | g.13753432C>G | CA359191857 | DNAH5 | c.10673G>C (p.Gly3558Ala) c.10628G>C (p.Gly3543Ala) c.10781G>C (p.Gly3594Ala) c.9686G>C (p.Gly3229Ala) c.5870G>C (p.Gly1957Ala) c.5423G>C (p.Gly1808Ala) c.4760G>C (p.Gly1587Ala) c.9275G>C (p.Gly3092Ala) | COSMIC |
5 | g.13753432C>T | CA359191859 | DNAH5 | c.10673G>A (p.Gly3558Glu) c.10628G>A (p.Gly3543Glu) c.10781G>A (p.Gly3594Glu) c.9686G>A (p.Gly3229Glu) c.5870G>A (p.Gly1957Glu) c.5423G>A (p.Gly1808Glu) c.4760G>A (p.Gly1587Glu) c.9275G>A (p.Gly3092Glu) | |
5 | g.13753433C>A | CA359191863 | DNAH5 | c.10672G>T (p.Gly3558Ter) c.10627G>T (p.Gly3543Ter) c.10780G>T (p.Gly3594Ter) c.9685G>T (p.Gly3229Ter) c.5869G>T (p.Gly1957Ter) c.5422G>T (p.Gly1808Ter) c.4759G>T (p.Gly1587Ter) c.9274G>T (p.Gly3092Ter) | |
5 | g.13753433C= | CA1528423506 | DNAH5 | c.10672G= (p.Gly3558=) c.10627G= (p.Gly3543=) c.10780G= (p.Gly3594=) c.9685G= (p.Gly3229=) c.5869G= (p.Gly1957=) c.5422G= (p.Gly1808=) c.4759G= (p.Gly1587=) c.9274G= (p.Gly3092=) | |
5 | g.13753433C>G | CA359191866 | DNAH5 | c.10672G>C (p.Gly3558Arg) c.10627G>C (p.Gly3543Arg) c.10780G>C (p.Gly3594Arg) c.9685G>C (p.Gly3229Arg) c.5869G>C (p.Gly1957Arg) c.5422G>C (p.Gly1808Arg) c.4759G>C (p.Gly1587Arg) c.9274G>C (p.Gly3092Arg) | |
5 | g.13753433C>T | CA359191868 | DNAH5 | c.10672G>A (p.Gly3558Arg) c.10627G>A (p.Gly3543Arg) c.10780G>A (p.Gly3594Arg) c.9685G>A (p.Gly3229Arg) c.5869G>A (p.Gly1957Arg) c.5422G>A (p.Gly1808Arg) c.4759G>A (p.Gly1587Arg) c.9274G>A (p.Gly3092Arg) | |
5 | g.13753434A>C | CA359191881 | DNAH5 | c.10671T>G (p.Phe3557Leu) c.10626T>G (p.Phe3542Leu) c.10779T>G (p.Phe3593Leu) c.9684T>G (p.Phe3228Leu) c.5868T>G (p.Phe1956Leu) c.5421T>G (p.Phe1807Leu) c.4758T>G (p.Phe1586Leu) c.9273T>G (p.Phe3091Leu) | |
5 | g.13753434A>G | CA443535880 | DNAH5 | c.10671T>C (p.Phe3557=) c.10626T>C (p.Phe3542=) c.10779T>C (p.Phe3593=) c.9684T>C (p.Phe3228=) c.5868T>C (p.Phe1956=) c.5421T>C (p.Phe1807=) c.4758T>C (p.Phe1586=) c.9273T>C (p.Phe3091=) | |
5 | g.13753434A>T | CA359191884 | DNAH5 | c.10671T>A (p.Phe3557Leu) c.10626T>A (p.Phe3542Leu) c.10779T>A (p.Phe3593Leu) c.9684T>A (p.Phe3228Leu) c.5868T>A (p.Phe1956Leu) c.5421T>A (p.Phe1807Leu) c.4758T>A (p.Phe1586Leu) c.9273T>A (p.Phe3091Leu) | |
5 | g.13753435_13753436dup | CA1528423507 | DNAH5 | c.10670_10671dup (p.Gly3558LeufsTer5) c.10625_10626dup (p.Gly3543LeufsTer5) c.10778_10779dup (p.Gly3594LeufsTer5) c.9683_9684dup (p.Gly3229LeufsTer5) c.5867_5868dup (p.Gly1957LeufsTer5) c.5420_5421dup (p.Gly1808LeufsTer5) c.4757_4758dup (p.Gly1587LeufsTer5) c.9272_9273dup (p.Gly3092LeufsTer5) | dbSNP |
5 | g.13753435A= | CA1528423508 | DNAH5 | c.10670T= (p.Phe3557=) c.10625T= (p.Phe3542=) c.10778T= (p.Phe3593=) c.9683T= (p.Phe3228=) c.5867T= (p.Phe1956=) c.5420T= (p.Phe1807=) c.4757T= (p.Phe1586=) c.9272T= (p.Phe3091=) | |
5 | g.13753435A>C | CA359191888 | DNAH5 | c.10670T>G (p.Phe3557Cys) c.10625T>G (p.Phe3542Cys) c.10778T>G (p.Phe3593Cys) c.9683T>G (p.Phe3228Cys) c.5867T>G (p.Phe1956Cys) c.5420T>G (p.Phe1807Cys) c.4757T>G (p.Phe1586Cys) c.9272T>G (p.Phe3091Cys) | |
5 | g.13753435A>G | CA359191891 | DNAH5 | c.10670T>C (p.Phe3557Ser) c.10625T>C (p.Phe3542Ser) c.10778T>C (p.Phe3593Ser) c.9683T>C (p.Phe3228Ser) c.5867T>C (p.Phe1956Ser) c.5420T>C (p.Phe1807Ser) c.4757T>C (p.Phe1586Ser) c.9272T>C (p.Phe3091Ser) | dbSNP gnomAD v4 |
5 | g.13753435A>T | CA359191894 | DNAH5 | c.10670T>A (p.Phe3557Tyr) c.10625T>A (p.Phe3542Tyr) c.10778T>A (p.Phe3593Tyr) c.9683T>A (p.Phe3228Tyr) c.5867T>A (p.Phe1956Tyr) c.5420T>A (p.Phe1807Tyr) c.4757T>A (p.Phe1586Tyr) c.9272T>A (p.Phe3091Tyr) | |
5 | g.13753436A= | CA1528423509 | DNAH5 | c.10669T= (p.Phe3557=) c.10624T= (p.Phe3542=) c.10777T= (p.Phe3593=) c.9682T= (p.Phe3228=) c.5866T= (p.Phe1956=) c.5419T= (p.Phe1807=) c.4756T= (p.Phe1586=) c.9271T= (p.Phe3091=) | |
5 | g.13753436A>C | CA359191899 | DNAH5 | c.10669T>G (p.Phe3557Val) c.10624T>G (p.Phe3542Val) c.10777T>G (p.Phe3593Val) c.9682T>G (p.Phe3228Val) c.5866T>G (p.Phe1956Val) c.5419T>G (p.Phe1807Val) c.4756T>G (p.Phe1586Val) c.9271T>G (p.Phe3091Val) | |
5 | g.13753436A>G | CA359191900 | DNAH5 | c.10669T>C (p.Phe3557Leu) c.10624T>C (p.Phe3542Leu) c.10777T>C (p.Phe3593Leu) c.9682T>C (p.Phe3228Leu) c.5866T>C (p.Phe1956Leu) c.5419T>C (p.Phe1807Leu) c.4756T>C (p.Phe1586Leu) c.9271T>C (p.Phe3091Leu) | dbSNP |
5 | g.13753436A>T | CA359191896 | DNAH5 | c.10669T>A (p.Phe3557Ile) c.10624T>A (p.Phe3542Ile) c.10777T>A (p.Phe3593Ile) c.9682T>A (p.Phe3228Ile) c.5866T>A (p.Phe1956Ile) c.5419T>A (p.Phe1807Ile) c.4756T>A (p.Phe1586Ile) c.9271T>A (p.Phe3091Ile) | gnomAD v4 |
5 | g.13753437T>A | CA443535886 | DNAH5 | c.10668A>T (p.Pro3556=) c.10623A>T (p.Pro3541=) c.10776A>T (p.Pro3592=) c.9681A>T (p.Pro3227=) c.5865A>T (p.Pro1955=) c.5418A>T (p.Pro1806=) c.4755A>T (p.Pro1585=) c.9270A>T (p.Pro3090=) | |
5 | g.13753437T>C | CA443535887 | DNAH5 | c.10668A>G (p.Pro3556=) c.10623A>G (p.Pro3541=) c.10776A>G (p.Pro3592=) c.9681A>G (p.Pro3227=) c.5865A>G (p.Pro1955=) c.5418A>G (p.Pro1806=) c.4755A>G (p.Pro1585=) c.9270A>G (p.Pro3090=) | |
5 | g.13753437T>G | CA443535889 | DNAH5 | c.10668A>C (p.Pro3556=) c.10623A>C (p.Pro3541=) c.10776A>C (p.Pro3592=) c.9681A>C (p.Pro3227=) c.5865A>C (p.Pro1955=) c.5418A>C (p.Pro1806=) c.4755A>C (p.Pro1585=) c.9270A>C (p.Pro3090=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753437T= | CA1528423510 | DNAH5 | c.10668A= (p.Pro3556=) c.10623A= (p.Pro3541=) c.10776A= (p.Pro3592=) c.9681A= (p.Pro3227=) c.5865A= (p.Pro1955=) c.5418A= (p.Pro1806=) c.4755A= (p.Pro1585=) c.9270A= (p.Pro3090=) | |
5 | g.13753438G>A | CA359191902 | DNAH5 | c.10667C>T (p.Pro3556Leu) c.10622C>T (p.Pro3541Leu) c.10775C>T (p.Pro3592Leu) c.9680C>T (p.Pro3227Leu) c.5864C>T (p.Pro1955Leu) c.5417C>T (p.Pro1806Leu) c.4754C>T (p.Pro1585Leu) c.9269C>T (p.Pro3090Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.13753438G>C | CA359191904 | DNAH5 | c.10667C>G (p.Pro3556Arg) c.10622C>G (p.Pro3541Arg) c.10775C>G (p.Pro3592Arg) c.9680C>G (p.Pro3227Arg) c.5864C>G (p.Pro1955Arg) c.5417C>G (p.Pro1806Arg) c.4754C>G (p.Pro1585Arg) c.9269C>G (p.Pro3090Arg) | |
5 | g.13753438G= | CA1528423511 | DNAH5 | c.10667C= (p.Pro3556=) c.10622C= (p.Pro3541=) c.10775C= (p.Pro3592=) c.9680C= (p.Pro3227=) c.5864C= (p.Pro1955=) c.5417C= (p.Pro1806=) c.4754C= (p.Pro1585=) c.9269C= (p.Pro3090=) | |
5 | g.13753438G>T | CA359191907 | DNAH5 | c.10667C>A (p.Pro3556Gln) c.10622C>A (p.Pro3541Gln) c.10775C>A (p.Pro3592Gln) c.9680C>A (p.Pro3227Gln) c.5864C>A (p.Pro1955Gln) c.5417C>A (p.Pro1806Gln) c.4754C>A (p.Pro1585Gln) c.9269C>A (p.Pro3090Gln) | |
5 | g.13753439G>A | CA359191911 | DNAH5 | c.10666C>T (p.Pro3556Ser) c.10621C>T (p.Pro3541Ser) c.10774C>T (p.Pro3592Ser) c.9679C>T (p.Pro3227Ser) c.5863C>T (p.Pro1955Ser) c.5416C>T (p.Pro1806Ser) c.4753C>T (p.Pro1585Ser) c.9268C>T (p.Pro3090Ser) | COSMIC |
5 | g.13753439G>C | CA359191913 | DNAH5 | c.10666C>G (p.Pro3556Ala) c.10621C>G (p.Pro3541Ala) c.10774C>G (p.Pro3592Ala) c.9679C>G (p.Pro3227Ala) c.5863C>G (p.Pro1955Ala) c.5416C>G (p.Pro1806Ala) c.4753C>G (p.Pro1585Ala) c.9268C>G (p.Pro3090Ala) | |
5 | g.13753439G>T | CA359191916 | DNAH5 | c.10666C>A (p.Pro3556Thr) c.10621C>A (p.Pro3541Thr) c.10774C>A (p.Pro3592Thr) c.9679C>A (p.Pro3227Thr) c.5863C>A (p.Pro1955Thr) c.5416C>A (p.Pro1806Thr) c.4753C>A (p.Pro1585Thr) c.9268C>A (p.Pro3090Thr) | |
5 | g.13753440A>C | CA359191920 | DNAH5 | c.10665T>G (p.Ile3555Met) c.10620T>G (p.Ile3540Met) c.10773T>G (p.Ile3591Met) c.9678T>G (p.Ile3226Met) c.5862T>G (p.Ile1954Met) c.5415T>G (p.Ile1805Met) c.4752T>G (p.Ile1584Met) c.9267T>G (p.Ile3089Met) | |
5 | g.13753440A>G | CA443535894 | DNAH5 | c.10665T>C (p.Ile3555=) c.10620T>C (p.Ile3540=) c.10773T>C (p.Ile3591=) c.9678T>C (p.Ile3226=) c.5862T>C (p.Ile1954=) c.5415T>C (p.Ile1805=) c.4752T>C (p.Ile1584=) c.9267T>C (p.Ile3089=) | COSMIC |
5 | g.13753440A>T | CA443535895 | DNAH5 | c.10665T>A (p.Ile3555=) c.10620T>A (p.Ile3540=) c.10773T>A (p.Ile3591=) c.9678T>A (p.Ile3226=) c.5862T>A (p.Ile1954=) c.5415T>A (p.Ile1805=) c.4752T>A (p.Ile1584=) c.9267T>A (p.Ile3089=) | |
5 | g.13753441A>C | CA359191923 | DNAH5 | c.10664T>G (p.Ile3555Ser) c.10619T>G (p.Ile3540Ser) c.10772T>G (p.Ile3591Ser) c.9677T>G (p.Ile3226Ser) c.5861T>G (p.Ile1954Ser) c.5414T>G (p.Ile1805Ser) c.4751T>G (p.Ile1584Ser) c.9266T>G (p.Ile3089Ser) | |
5 | g.13753441A>G | CA359191925 | DNAH5 | c.10664T>C (p.Ile3555Thr) c.10619T>C (p.Ile3540Thr) c.10772T>C (p.Ile3591Thr) c.9677T>C (p.Ile3226Thr) c.5861T>C (p.Ile1954Thr) c.5414T>C (p.Ile1805Thr) c.4751T>C (p.Ile1584Thr) c.9266T>C (p.Ile3089Thr) | |
5 | g.13753441A>T | CA359191928 | DNAH5 | c.10664T>A (p.Ile3555Asn) c.10619T>A (p.Ile3540Asn) c.10772T>A (p.Ile3591Asn) c.9677T>A (p.Ile3226Asn) c.5861T>A (p.Ile1954Asn) c.5414T>A (p.Ile1805Asn) c.4751T>A (p.Ile1584Asn) c.9266T>A (p.Ile3089Asn) | |
5 | g.13753442T>A | CA359191931 | DNAH5 | c.10663A>T (p.Ile3555Phe) c.10618A>T (p.Ile3540Phe) c.10771A>T (p.Ile3591Phe) c.9676A>T (p.Ile3226Phe) c.5860A>T (p.Ile1954Phe) c.5413A>T (p.Ile1805Phe) c.4750A>T (p.Ile1584Phe) c.9265A>T (p.Ile3089Phe) | |
5 | g.13753442T>C | CA359191934 | DNAH5 | c.10663A>G (p.Ile3555Val) c.10618A>G (p.Ile3540Val) c.10771A>G (p.Ile3591Val) c.9676A>G (p.Ile3226Val) c.5860A>G (p.Ile1954Val) c.5413A>G (p.Ile1805Val) c.4750A>G (p.Ile1584Val) c.9265A>G (p.Ile3089Val) | |
5 | g.13753442T>G | CA359191936 | DNAH5 | c.10663A>C (p.Ile3555Leu) c.10618A>C (p.Ile3540Leu) c.10771A>C (p.Ile3591Leu) c.9676A>C (p.Ile3226Leu) c.5860A>C (p.Ile1954Leu) c.5413A>C (p.Ile1805Leu) c.4750A>C (p.Ile1584Leu) c.9265A>C (p.Ile3089Leu) | |
5 | g.13753443T>A | CA359191942 | DNAH5 | c.10662A>T (p.Lys3554Asn) c.10617A>T (p.Lys3539Asn) c.10770A>T (p.Lys3590Asn) c.9675A>T (p.Lys3225Asn) c.5859A>T (p.Lys1953Asn) c.5412A>T (p.Lys1804Asn) c.4749A>T (p.Lys1583Asn) c.9264A>T (p.Lys3088Asn) | |
5 | g.13753443T>C | CA443535896 | DNAH5 | c.10662A>G (p.Lys3554=) c.10617A>G (p.Lys3539=) c.10770A>G (p.Lys3590=) c.9675A>G (p.Lys3225=) c.5859A>G (p.Lys1953=) c.5412A>G (p.Lys1804=) c.4749A>G (p.Lys1583=) c.9264A>G (p.Lys3088=) | gnomAD v4 |
5 | g.13753443T>G | CA359191939 | DNAH5 | c.10662A>C (p.Lys3554Asn) c.10617A>C (p.Lys3539Asn) c.10770A>C (p.Lys3590Asn) c.9675A>C (p.Lys3225Asn) c.5859A>C (p.Lys1953Asn) c.5412A>C (p.Lys1804Asn) c.4749A>C (p.Lys1583Asn) c.9264A>C (p.Lys3088Asn) | |
5 | g.13753444T>A | CA359191945 | DNAH5 | c.10661A>T (p.Lys3554Ile) c.10616A>T (p.Lys3539Ile) c.10769A>T (p.Lys3590Ile) c.9674A>T (p.Lys3225Ile) c.5858A>T (p.Lys1953Ile) c.5411A>T (p.Lys1804Ile) c.4748A>T (p.Lys1583Ile) c.9263A>T (p.Lys3088Ile) | |
5 | g.13753444T>C | CA359191947 | DNAH5 | c.10661A>G (p.Lys3554Arg) c.10616A>G (p.Lys3539Arg) c.10769A>G (p.Lys3590Arg) c.9674A>G (p.Lys3225Arg) c.5858A>G (p.Lys1953Arg) c.5411A>G (p.Lys1804Arg) c.4748A>G (p.Lys1583Arg) c.9263A>G (p.Lys3088Arg) | |
5 | g.13753444T>G | CA359191948 | DNAH5 | c.10661A>C (p.Lys3554Thr) c.10616A>C (p.Lys3539Thr) c.10769A>C (p.Lys3590Thr) c.9674A>C (p.Lys3225Thr) c.5858A>C (p.Lys1953Thr) c.5411A>C (p.Lys1804Thr) c.4748A>C (p.Lys1583Thr) c.9263A>C (p.Lys3088Thr) | |
5 | g.13753445T>A | CA359191950 | DNAH5 | c.10660A>T (p.Lys3554Ter) c.10615A>T (p.Lys3539Ter) c.10768A>T (p.Lys3590Ter) c.9673A>T (p.Lys3225Ter) c.5857A>T (p.Lys1953Ter) c.5410A>T (p.Lys1804Ter) c.4747A>T (p.Lys1583Ter) c.9262A>T (p.Lys3088Ter) | |
5 | g.13753445T>C | CA359191953 | DNAH5 | c.10660A>G (p.Lys3554Glu) c.10615A>G (p.Lys3539Glu) c.10768A>G (p.Lys3590Glu) c.9673A>G (p.Lys3225Glu) c.5857A>G (p.Lys1953Glu) c.5410A>G (p.Lys1804Glu) c.4747A>G (p.Lys1583Glu) c.9262A>G (p.Lys3088Glu) | |
5 | g.13753445T>G | CA359191956 | DNAH5 | c.10660A>C (p.Lys3554Gln) c.10615A>C (p.Lys3539Gln) c.10768A>C (p.Lys3590Gln) c.9673A>C (p.Lys3225Gln) c.5857A>C (p.Lys1953Gln) c.5410A>C (p.Lys1804Gln) c.4747A>C (p.Lys1583Gln) c.9262A>C (p.Lys3088Gln) | |
5 | g.13753446C>A | CA443535902 | DNAH5 | c.10659G>T (p.Arg3553=) c.10614G>T (p.Arg3538=) c.10767G>T (p.Arg3589=) c.9672G>T (p.Arg3224=) c.5856G>T (p.Arg1952=) c.5409G>T (p.Arg1803=) c.4746G>T (p.Arg1582=) c.9261G>T (p.Arg3087=) | |
5 | g.13753446C= | CA1528423512 | DNAH5 | c.10659G= (p.Arg3553=) c.10614G= (p.Arg3538=) c.10767G= (p.Arg3589=) c.9672G= (p.Arg3224=) c.5856G= (p.Arg1952=) c.5409G= (p.Arg1803=) c.4746G= (p.Arg1582=) c.9261G= (p.Arg3087=) | |
5 | g.13753446C>G | CA443535904 | DNAH5 | c.10659G>C (p.Arg3553=) c.10614G>C (p.Arg3538=) c.10767G>C (p.Arg3589=) c.9672G>C (p.Arg3224=) c.5856G>C (p.Arg1952=) c.5409G>C (p.Arg1803=) c.4746G>C (p.Arg1582=) c.9261G>C (p.Arg3087=) | ClinVar dbSNP gnomAD v4 |
5 | g.13753446C>T | CA443535903 | DNAH5 | c.10659G>A (p.Arg3553=) c.10614G>A (p.Arg3538=) c.10767G>A (p.Arg3589=) c.9672G>A (p.Arg3224=) c.5856G>A (p.Arg1952=) c.5409G>A (p.Arg1803=) c.4746G>A (p.Arg1582=) c.9261G>A (p.Arg3087=) | COSMIC |
5 | g.13753447C>A | CA359191959 | DNAH5 | c.10658G>T (p.Arg3553Leu) c.10613G>T (p.Arg3538Leu) c.10766G>T (p.Arg3589Leu) c.9671G>T (p.Arg3224Leu) c.5855G>T (p.Arg1952Leu) c.5408G>T (p.Arg1803Leu) c.4745G>T (p.Arg1582Leu) c.9260G>T (p.Arg3087Leu) | |
5 | g.13753447C= | CA1528423513 | DNAH5 | c.10658G= (p.Arg3553=) c.10613G= (p.Arg3538=) c.10766G= (p.Arg3589=) c.9671G= (p.Arg3224=) c.5855G= (p.Arg1952=) c.5408G= (p.Arg1803=) c.4745G= (p.Arg1582=) c.9260G= (p.Arg3087=) | |
5 | g.13753447C>G | CA359191962 | DNAH5 | c.10658G>C (p.Arg3553Pro) c.10613G>C (p.Arg3538Pro) c.10766G>C (p.Arg3589Pro) c.9671G>C (p.Arg3224Pro) c.5855G>C (p.Arg1952Pro) c.5408G>C (p.Arg1803Pro) c.4745G>C (p.Arg1582Pro) c.9260G>C (p.Arg3087Pro) | |
5 | g.13753447C>T | CA3202158 | DNAH5 | c.10658G>A (p.Arg3553Gln) c.10613G>A (p.Arg3538Gln) c.10766G>A (p.Arg3589Gln) c.9671G>A (p.Arg3224Gln) c.5855G>A (p.Arg1952Gln) c.5408G>A (p.Arg1803Gln) c.4745G>A (p.Arg1582Gln) c.9260G>A (p.Arg3087Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753448G>A | CA3202159 | DNAH5 | c.10657C>T (p.Arg3553Trp) c.10612C>T (p.Arg3538Trp) c.10765C>T (p.Arg3589Trp) c.9670C>T (p.Arg3224Trp) c.5854C>T (p.Arg1952Trp) c.5407C>T (p.Arg1803Trp) c.4744C>T (p.Arg1582Trp) c.9259C>T (p.Arg3087Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753448G>C | CA359191969 | DNAH5 | c.10657C>G (p.Arg3553Gly) c.10612C>G (p.Arg3538Gly) c.10765C>G (p.Arg3589Gly) c.9670C>G (p.Arg3224Gly) c.5854C>G (p.Arg1952Gly) c.5407C>G (p.Arg1803Gly) c.4744C>G (p.Arg1582Gly) c.9259C>G (p.Arg3087Gly) | |
5 | g.13753448G= | CA1528423514 | DNAH5 | c.10657C= (p.Arg3553=) c.10612C= (p.Arg3538=) c.10765C= (p.Arg3589=) c.9670C= (p.Arg3224=) c.5854C= (p.Arg1952=) c.5407C= (p.Arg1803=) c.4744C= (p.Arg1582=) c.9259C= (p.Arg3087=) | |
5 | g.13753448G>T | CA443535906 | DNAH5 | c.10657C>A (p.Arg3553=) c.10612C>A (p.Arg3538=) c.10765C>A (p.Arg3589=) c.9670C>A (p.Arg3224=) c.5854C>A (p.Arg1952=) c.5407C>A (p.Arg1803=) c.4744C>A (p.Arg1582=) c.9259C>A (p.Arg3087=) | |
5 | g.13753449G>A | CA3202161 | DNAH5 | c.10656C>T (p.Ala3552=) c.10611C>T (p.Ala3537=) c.10764C>T (p.Ala3588=) c.9669C>T (p.Ala3223=) c.5853C>T (p.Ala1951=) c.5406C>T (p.Ala1802=) c.4743C>T (p.Ala1581=) c.9258C>T (p.Ala3086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753449G>C | CA443535910 | DNAH5 | c.10656C>G (p.Ala3552=) c.10611C>G (p.Ala3537=) c.10764C>G (p.Ala3588=) c.9669C>G (p.Ala3223=) c.5853C>G (p.Ala1951=) c.5406C>G (p.Ala1802=) c.4743C>G (p.Ala1581=) c.9258C>G (p.Ala3086=) | |
5 | g.13753449G= | CA1528423515 | DNAH5 | c.10656C= (p.Ala3552=) c.10611C= (p.Ala3537=) c.10764C= (p.Ala3588=) c.9669C= (p.Ala3223=) c.5853C= (p.Ala1951=) c.5406C= (p.Ala1802=) c.4743C= (p.Ala1581=) c.9258C= (p.Ala3086=) | |
5 | g.13753449G>T | CA3202160 | DNAH5 | c.10656C>A (p.Ala3552=) c.10611C>A (p.Ala3537=) c.10764C>A (p.Ala3588=) c.9669C>A (p.Ala3223=) c.5853C>A (p.Ala1951=) c.5406C>A (p.Ala1802=) c.4743C>A (p.Ala1581=) c.9258C>A (p.Ala3086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753450G>A | CA359191982 | DNAH5 | c.10655C>T (p.Ala3552Val) c.10610C>T (p.Ala3537Val) c.10763C>T (p.Ala3588Val) c.9668C>T (p.Ala3223Val) c.5852C>T (p.Ala1951Val) c.5405C>T (p.Ala1802Val) c.4742C>T (p.Ala1581Val) c.9257C>T (p.Ala3086Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753450G>C | CA359191979 | DNAH5 | c.10655C>G (p.Ala3552Gly) c.10610C>G (p.Ala3537Gly) c.10763C>G (p.Ala3588Gly) c.9668C>G (p.Ala3223Gly) c.5852C>G (p.Ala1951Gly) c.5405C>G (p.Ala1802Gly) c.4742C>G (p.Ala1581Gly) c.9257C>G (p.Ala3086Gly) | |
5 | g.13753450G= | CA1528423516 | DNAH5 | c.10655C= (p.Ala3552=) c.10610C= (p.Ala3537=) c.10763C= (p.Ala3588=) c.9668C= (p.Ala3223=) c.5852C= (p.Ala1951=) c.5405C= (p.Ala1802=) c.4742C= (p.Ala1581=) c.9257C= (p.Ala3086=) | |
5 | g.13753450G>T | CA359191977 | DNAH5 | c.10655C>A (p.Ala3552Asp) c.10610C>A (p.Ala3537Asp) c.10763C>A (p.Ala3588Asp) c.9668C>A (p.Ala3223Asp) c.5852C>A (p.Ala1951Asp) c.5405C>A (p.Ala1802Asp) c.4742C>A (p.Ala1581Asp) c.9257C>A (p.Ala3086Asp) | |
5 | g.13753451C>A | CA359191985 | DNAH5 | c.10654G>T (p.Ala3552Ser) c.10609G>T (p.Ala3537Ser) c.10762G>T (p.Ala3588Ser) c.9667G>T (p.Ala3223Ser) c.5851G>T (p.Ala1951Ser) c.5404G>T (p.Ala1802Ser) c.4741G>T (p.Ala1581Ser) c.9256G>T (p.Ala3086Ser) | |
5 | g.13753451C>G | CA359191988 | DNAH5 | c.10654G>C (p.Ala3552Pro) c.10609G>C (p.Ala3537Pro) c.10762G>C (p.Ala3588Pro) c.9667G>C (p.Ala3223Pro) c.5851G>C (p.Ala1951Pro) c.5404G>C (p.Ala1802Pro) c.4741G>C (p.Ala1581Pro) c.9256G>C (p.Ala3086Pro) | |
5 | g.13753451C>T | CA359191991 | DNAH5 | c.10654G>A (p.Ala3552Thr) c.10609G>A (p.Ala3537Thr) c.10762G>A (p.Ala3588Thr) c.9667G>A (p.Ala3223Thr) c.5851G>A (p.Ala1951Thr) c.5404G>A (p.Ala1802Thr) c.4741G>A (p.Ala1581Thr) c.9256G>A (p.Ala3086Thr) | COSMIC |
5 | g.13753452T>A | CA359191993 | DNAH5 | c.10653A>T (p.Lys3551Asn) c.10608A>T (p.Lys3536Asn) c.10761A>T (p.Lys3587Asn) c.9666A>T (p.Lys3222Asn) c.5850A>T (p.Lys1950Asn) c.5403A>T (p.Lys1801Asn) c.4740A>T (p.Lys1580Asn) c.9255A>T (p.Lys3085Asn) | |
5 | g.13753452T>C | CA443535916 | DNAH5 | c.10653A>G (p.Lys3551=) c.10608A>G (p.Lys3536=) c.10761A>G (p.Lys3587=) c.9666A>G (p.Lys3222=) c.5850A>G (p.Lys1950=) c.5403A>G (p.Lys1801=) c.4740A>G (p.Lys1580=) c.9255A>G (p.Lys3085=) | |
5 | g.13753452T>G | CA359191996 | DNAH5 | c.10653A>C (p.Lys3551Asn) c.10608A>C (p.Lys3536Asn) c.10761A>C (p.Lys3587Asn) c.9666A>C (p.Lys3222Asn) c.5850A>C (p.Lys1950Asn) c.5403A>C (p.Lys1801Asn) c.4740A>C (p.Lys1580Asn) c.9255A>C (p.Lys3085Asn) | |
5 | g.13753453T>A | CA359192002 | DNAH5 | c.10652A>T (p.Lys3551Ile) c.10607A>T (p.Lys3536Ile) c.10760A>T (p.Lys3587Ile) c.9665A>T (p.Lys3222Ile) c.5849A>T (p.Lys1950Ile) c.5402A>T (p.Lys1801Ile) c.4739A>T (p.Lys1580Ile) c.9254A>T (p.Lys3085Ile) | |
5 | g.13753453T>C | CA359192000 | DNAH5 | c.10652A>G (p.Lys3551Arg) c.10607A>G (p.Lys3536Arg) c.10760A>G (p.Lys3587Arg) c.9665A>G (p.Lys3222Arg) c.5849A>G (p.Lys1950Arg) c.5402A>G (p.Lys1801Arg) c.4739A>G (p.Lys1580Arg) c.9254A>G (p.Lys3085Arg) | |
5 | g.13753453T>G | CA359191998 | DNAH5 | c.10652A>C (p.Lys3551Thr) c.10607A>C (p.Lys3536Thr) c.10760A>C (p.Lys3587Thr) c.9665A>C (p.Lys3222Thr) c.5849A>C (p.Lys1950Thr) c.5402A>C (p.Lys1801Thr) c.4739A>C (p.Lys1580Thr) c.9254A>C (p.Lys3085Thr) | |
5 | g.13753454T>A | CA359192004 | DNAH5 | c.10651A>T (p.Lys3551Ter) c.10606A>T (p.Lys3536Ter) c.10759A>T (p.Lys3587Ter) c.9664A>T (p.Lys3222Ter) c.5848A>T (p.Lys1950Ter) c.5401A>T (p.Lys1801Ter) c.4738A>T (p.Lys1580Ter) c.9253A>T (p.Lys3085Ter) | |
5 | g.13753454T>C | CA359192006 | DNAH5 | c.10651A>G (p.Lys3551Glu) c.10606A>G (p.Lys3536Glu) c.10759A>G (p.Lys3587Glu) c.9664A>G (p.Lys3222Glu) c.5848A>G (p.Lys1950Glu) c.5401A>G (p.Lys1801Glu) c.4738A>G (p.Lys1580Glu) c.9253A>G (p.Lys3085Glu) | |
5 | g.13753454T>G | CA359192010 | DNAH5 | c.10651A>C (p.Lys3551Gln) c.10606A>C (p.Lys3536Gln) c.10759A>C (p.Lys3587Gln) c.9664A>C (p.Lys3222Gln) c.5848A>C (p.Lys1950Gln) c.5401A>C (p.Lys1801Gln) c.4738A>C (p.Lys1580Gln) c.9253A>C (p.Lys3085Gln) | |
5 | g.13753455C>A | CA359192013 | DNAH5 | c.10650G>T (p.Met3550Ile) c.10605G>T (p.Met3535Ile) c.10758G>T (p.Met3586Ile) c.9663G>T (p.Met3221Ile) c.5847G>T (p.Met1949Ile) c.5400G>T (p.Met1800Ile) c.4737G>T (p.Met1579Ile) c.9252G>T (p.Met3084Ile) | |
5 | g.13753455C= | CA1528423517 | DNAH5 | c.10650G= (p.Met3550=) c.10605G= (p.Met3535=) c.10758G= (p.Met3586=) c.9663G= (p.Met3221=) c.5847G= (p.Met1949=) c.5400G= (p.Met1800=) c.4737G= (p.Met1579=) c.9252G= (p.Met3084=) | |
5 | g.13753455C>G | CA359192014 | DNAH5 | c.10650G>C (p.Met3550Ile) c.10605G>C (p.Met3535Ile) c.10758G>C (p.Met3586Ile) c.9663G>C (p.Met3221Ile) c.5847G>C (p.Met1949Ile) c.5400G>C (p.Met1800Ile) c.4737G>C (p.Met1579Ile) c.9252G>C (p.Met3084Ile) | |
5 | g.13753455C>T | CA113919051 | DNAH5 | c.10650G>A (p.Met3550Ile) c.10605G>A (p.Met3535Ile) c.10758G>A (p.Met3586Ile) c.9663G>A (p.Met3221Ile) c.5847G>A (p.Met1949Ile) c.5400G>A (p.Met1800Ile) c.4737G>A (p.Met1579Ile) c.9252G>A (p.Met3084Ile) | dbSNP gnomAD v4 COSMIC |
5 | g.13753456A= | CA1528423518 | DNAH5 | c.10649T= (p.Met3550=) c.10604T= (p.Met3535=) c.10757T= (p.Met3586=) c.9662T= (p.Met3221=) c.5846T= (p.Met1949=) c.5399T= (p.Met1800=) c.4736T= (p.Met1579=) c.9251T= (p.Met3084=) | |
5 | g.13753456A>C | CA3202162 | DNAH5 | c.10649T>G (p.Met3550Arg) c.10604T>G (p.Met3535Arg) c.10757T>G (p.Met3586Arg) c.9662T>G (p.Met3221Arg) c.5846T>G (p.Met1949Arg) c.5399T>G (p.Met1800Arg) c.4736T>G (p.Met1579Arg) c.9251T>G (p.Met3084Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753456A>G | CA359192017 | DNAH5 | c.10649T>C (p.Met3550Thr) c.10604T>C (p.Met3535Thr) c.10757T>C (p.Met3586Thr) c.9662T>C (p.Met3221Thr) c.5846T>C (p.Met1949Thr) c.5399T>C (p.Met1800Thr) c.4736T>C (p.Met1579Thr) c.9251T>C (p.Met3084Thr) | |
5 | g.13753456A>T | CA359192019 | DNAH5 | c.10649T>A (p.Met3550Lys) c.10604T>A (p.Met3535Lys) c.10757T>A (p.Met3586Lys) c.9662T>A (p.Met3221Lys) c.5846T>A (p.Met1949Lys) c.5399T>A (p.Met1800Lys) c.4736T>A (p.Met1579Lys) c.9251T>A (p.Met3084Lys) | |
5 | g.13753457T>A | CA359192022 | DNAH5 | c.10648A>T (p.Met3550Leu) c.10603A>T (p.Met3535Leu) c.10756A>T (p.Met3586Leu) c.9661A>T (p.Met3221Leu) c.5845A>T (p.Met1949Leu) c.5398A>T (p.Met1800Leu) c.4735A>T (p.Met1579Leu) c.9250A>T (p.Met3084Leu) | |
5 | g.13753457T>C | CA359192023 | DNAH5 | c.10648A>G (p.Met3550Val) c.10603A>G (p.Met3535Val) c.10756A>G (p.Met3586Val) c.9661A>G (p.Met3221Val) c.5845A>G (p.Met1949Val) c.5398A>G (p.Met1800Val) c.4735A>G (p.Met1579Val) c.9250A>G (p.Met3084Val) | |
5 | g.13753457T>G | CA359192024 | DNAH5 | c.10648A>C (p.Met3550Leu) c.10603A>C (p.Met3535Leu) c.10756A>C (p.Met3586Leu) c.9661A>C (p.Met3221Leu) c.5845A>C (p.Met1949Leu) c.5398A>C (p.Met1800Leu) c.4735A>C (p.Met1579Leu) c.9250A>C (p.Met3084Leu) | |
5 | g.13753459_13753463dup | CA1528423519 | DNAH5 | c.10644_10648dup (p.Met3550ArgfsTer3) c.10599_10603dup (p.Met3535ArgfsTer3) c.10752_10756dup (p.Met3586ArgfsTer3) c.9657_9661dup (p.Met3221ArgfsTer3) c.5841_5845dup (p.Met1949ArgfsTer3) c.5394_5398dup (p.Met1800ArgfsTer3) c.4731_4735dup (p.Met1579ArgfsTer3) c.9246_9250dup (p.Met3084ArgfsTer3) | dbSNP |
5 | g.13753458T>A | CA359192026 | DNAH5 | c.10647A>T (p.Glu3549Asp) c.10602A>T (p.Glu3534Asp) c.10755A>T (p.Glu3585Asp) c.9660A>T (p.Glu3220Asp) c.5844A>T (p.Glu1948Asp) c.5397A>T (p.Glu1799Asp) c.4734A>T (p.Glu1578Asp) c.9249A>T (p.Glu3083Asp) | |
5 | g.13753458T>C | CA443535930 | DNAH5 | c.10647A>G (p.Glu3549=) c.10602A>G (p.Glu3534=) c.10755A>G (p.Glu3585=) c.9660A>G (p.Glu3220=) c.5844A>G (p.Glu1948=) c.5397A>G (p.Glu1799=) c.4734A>G (p.Glu1578=) c.9249A>G (p.Glu3083=) | gnomAD v4 |
5 | g.13753458T>G | CA359192028 | DNAH5 | c.10647A>C (p.Glu3549Asp) c.10602A>C (p.Glu3534Asp) c.10755A>C (p.Glu3585Asp) c.9660A>C (p.Glu3220Asp) c.5844A>C (p.Glu1948Asp) c.5397A>C (p.Glu1799Asp) c.4734A>C (p.Glu1578Asp) c.9249A>C (p.Glu3083Asp) | |
5 | g.13753459T>A | CA359192030 | DNAH5 | c.10646A>T (p.Glu3549Val) c.10601A>T (p.Glu3534Val) c.10754A>T (p.Glu3585Val) c.9659A>T (p.Glu3220Val) c.5843A>T (p.Glu1948Val) c.5396A>T (p.Glu1799Val) c.4733A>T (p.Glu1578Val) c.9248A>T (p.Glu3083Val) | |
5 | g.13753459T>C | CA3202163 | DNAH5 | c.10646A>G (p.Glu3549Gly) c.10601A>G (p.Glu3534Gly) c.10754A>G (p.Glu3585Gly) c.9659A>G (p.Glu3220Gly) c.5843A>G (p.Glu1948Gly) c.5396A>G (p.Glu1799Gly) c.4733A>G (p.Glu1578Gly) c.9248A>G (p.Glu3083Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753459T>G | CA359192032 | DNAH5 | c.10646A>C (p.Glu3549Ala) c.10601A>C (p.Glu3534Ala) c.10754A>C (p.Glu3585Ala) c.9659A>C (p.Glu3220Ala) c.5843A>C (p.Glu1948Ala) c.5396A>C (p.Glu1799Ala) c.4733A>C (p.Glu1578Ala) c.9248A>C (p.Glu3083Ala) | gnomAD v4 |
5 | g.13753459T= | CA1528423520 | DNAH5 | c.10646A= (p.Glu3549=) c.10601A= (p.Glu3534=) c.10754A= (p.Glu3585=) c.9659A= (p.Glu3220=) c.5843A= (p.Glu1948=) c.5396A= (p.Glu1799=) c.4733A= (p.Glu1578=) c.9248A= (p.Glu3083=) | |
5 | g.13753460C>A | CA359192033 | DNAH5 | c.10645G>T (p.Glu3549Ter) c.10600G>T (p.Glu3534Ter) c.10753G>T (p.Glu3585Ter) c.9658G>T (p.Glu3220Ter) c.5842G>T (p.Glu1948Ter) c.5395G>T (p.Glu1799Ter) c.4732G>T (p.Glu1578Ter) c.9247G>T (p.Glu3083Ter) | |
5 | g.13753460C= | CA1528423521 | DNAH5 | c.10645G= (p.Glu3549=) c.10600G= (p.Glu3534=) c.10753G= (p.Glu3585=) c.9658G= (p.Glu3220=) c.5842G= (p.Glu1948=) c.5395G= (p.Glu1799=) c.4732G= (p.Glu1578=) c.9247G= (p.Glu3083=) | |
5 | g.13753460C>G | CA359192034 | DNAH5 | c.10645G>C (p.Glu3549Gln) c.10600G>C (p.Glu3534Gln) c.10753G>C (p.Glu3585Gln) c.9658G>C (p.Glu3220Gln) c.5842G>C (p.Glu1948Gln) c.5395G>C (p.Glu1799Gln) c.4732G>C (p.Glu1578Gln) c.9247G>C (p.Glu3083Gln) | |
5 | g.13753460C>T | CA113919063 | DNAH5 | c.10645G>A (p.Glu3549Lys) c.10600G>A (p.Glu3534Lys) c.10753G>A (p.Glu3585Lys) c.9658G>A (p.Glu3220Lys) c.5842G>A (p.Glu1948Lys) c.5395G>A (p.Glu1799Lys) c.4732G>A (p.Glu1578Lys) c.9247G>A (p.Glu3083Lys) | dbSNP COSMIC |
5 | g.13753461C>A | CA359192037 | DNAH5 | c.10644G>T (p.Lys3548Asn) c.10599G>T (p.Lys3533Asn) c.10752G>T (p.Lys3584Asn) c.9657G>T (p.Lys3219Asn) c.5841G>T (p.Lys1947Asn) c.5394G>T (p.Lys1798Asn) c.4731G>T (p.Lys1577Asn) c.9246G>T (p.Lys3082Asn) | |
5 | g.13753461C>G | CA359192038 | DNAH5 | c.10644G>C (p.Lys3548Asn) c.10599G>C (p.Lys3533Asn) c.10752G>C (p.Lys3584Asn) c.9657G>C (p.Lys3219Asn) c.5841G>C (p.Lys1947Asn) c.5394G>C (p.Lys1798Asn) c.4731G>C (p.Lys1577Asn) c.9246G>C (p.Lys3082Asn) | |
5 | g.13753461C>T | CA443535938 | DNAH5 | c.10644G>A (p.Lys3548=) c.10599G>A (p.Lys3533=) c.10752G>A (p.Lys3584=) c.9657G>A (p.Lys3219=) c.5841G>A (p.Lys1947=) c.5394G>A (p.Lys1798=) c.4731G>A (p.Lys1577=) c.9246G>A (p.Lys3082=) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.13753462T>A | CA359192040 | DNAH5 | c.10643A>T (p.Lys3548Met) c.10598A>T (p.Lys3533Met) c.10751A>T (p.Lys3584Met) c.9656A>T (p.Lys3219Met) c.5840A>T (p.Lys1947Met) c.5393A>T (p.Lys1798Met) c.4730A>T (p.Lys1577Met) c.9245A>T (p.Lys3082Met) | |
5 | g.13753462T>C | CA359192043 | DNAH5 | c.10643A>G (p.Lys3548Arg) c.10598A>G (p.Lys3533Arg) c.10751A>G (p.Lys3584Arg) c.9656A>G (p.Lys3219Arg) c.5840A>G (p.Lys1947Arg) c.5393A>G (p.Lys1798Arg) c.4730A>G (p.Lys1577Arg) c.9245A>G (p.Lys3082Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753462T>G | CA359192042 | DNAH5 | c.10643A>C (p.Lys3548Thr) c.10598A>C (p.Lys3533Thr) c.10751A>C (p.Lys3584Thr) c.9656A>C (p.Lys3219Thr) c.5840A>C (p.Lys1947Thr) c.5393A>C (p.Lys1798Thr) c.4730A>C (p.Lys1577Thr) c.9245A>C (p.Lys3082Thr) | |
5 | g.13753462T= | CA1528423522 | DNAH5 | c.10643A= (p.Lys3548=) c.10598A= (p.Lys3533=) c.10751A= (p.Lys3584=) c.9656A= (p.Lys3219=) c.5840A= (p.Lys1947=) c.5393A= (p.Lys1798=) c.4730A= (p.Lys1577=) c.9245A= (p.Lys3082=) | |
5 | g.13753463T>A | CA359192045 | DNAH5 | c.10642A>T (p.Lys3548Ter) c.10597A>T (p.Lys3533Ter) c.10750A>T (p.Lys3584Ter) c.9655A>T (p.Lys3219Ter) c.5839A>T (p.Lys1947Ter) c.5392A>T (p.Lys1798Ter) c.4729A>T (p.Lys1577Ter) c.9244A>T (p.Lys3082Ter) | |
5 | g.13753463T>C | CA359192047 | DNAH5 | c.10642A>G (p.Lys3548Glu) c.10597A>G (p.Lys3533Glu) c.10750A>G (p.Lys3584Glu) c.9655A>G (p.Lys3219Glu) c.5839A>G (p.Lys1947Glu) c.5392A>G (p.Lys1798Glu) c.4729A>G (p.Lys1577Glu) c.9244A>G (p.Lys3082Glu) | |
5 | g.13753463T>G | CA359192049 | DNAH5 | c.10642A>C (p.Lys3548Gln) c.10597A>C (p.Lys3533Gln) c.10750A>C (p.Lys3584Gln) c.9655A>C (p.Lys3219Gln) c.5839A>C (p.Lys1947Gln) c.5392A>C (p.Lys1798Gln) c.4729A>C (p.Lys1577Gln) c.9244A>C (p.Lys3082Gln) | |
5 | g.13753464C>A | CA443535943 | DNAH5 | c.10641G>T (p.Arg3547=) c.10596G>T (p.Arg3532=) c.10749G>T (p.Arg3583=) c.9654G>T (p.Arg3218=) c.5838G>T (p.Arg1946=) c.5391G>T (p.Arg1797=) c.4728G>T (p.Arg1576=) c.9243G>T (p.Arg3081=) | |
5 | g.13753464C>G | CA443535944 | DNAH5 | c.10641G>C (p.Arg3547=) c.10596G>C (p.Arg3532=) c.10749G>C (p.Arg3583=) c.9654G>C (p.Arg3218=) c.5838G>C (p.Arg1946=) c.5391G>C (p.Arg1797=) c.4728G>C (p.Arg1576=) c.9243G>C (p.Arg3081=) | |
5 | g.13753464C>T | CA443535945 | DNAH5 | c.10641G>A (p.Arg3547=) c.10596G>A (p.Arg3532=) c.10749G>A (p.Arg3583=) c.9654G>A (p.Arg3218=) c.5838G>A (p.Arg1946=) c.5391G>A (p.Arg1797=) c.4728G>A (p.Arg1576=) c.9243G>A (p.Arg3081=) | gnomAD v4 |
5 | g.13753465C>A | CA359192050 | DNAH5 | c.10640G>T (p.Arg3547Leu) c.10595G>T (p.Arg3532Leu) c.10748G>T (p.Arg3583Leu) c.9653G>T (p.Arg3218Leu) c.5837G>T (p.Arg1946Leu) c.5390G>T (p.Arg1797Leu) c.4727G>T (p.Arg1576Leu) c.9242G>T (p.Arg3081Leu) | |
5 | g.13753465C= | CA1528423523 | DNAH5 | c.10640G= (p.Arg3547=) c.10595G= (p.Arg3532=) c.10748G= (p.Arg3583=) c.9653G= (p.Arg3218=) c.5837G= (p.Arg1946=) c.5390G= (p.Arg1797=) c.4727G= (p.Arg1576=) c.9242G= (p.Arg3081=) | |
5 | g.13753465C>G | CA359192052 | DNAH5 | c.10640G>C (p.Arg3547Pro) c.10595G>C (p.Arg3532Pro) c.10748G>C (p.Arg3583Pro) c.9653G>C (p.Arg3218Pro) c.5837G>C (p.Arg1946Pro) c.5390G>C (p.Arg1797Pro) c.4727G>C (p.Arg1576Pro) c.9242G>C (p.Arg3081Pro) | |
5 | g.13753465C>T | CA3202164 | DNAH5 | c.10640G>A (p.Arg3547Gln) c.10595G>A (p.Arg3532Gln) c.10748G>A (p.Arg3583Gln) c.9653G>A (p.Arg3218Gln) c.5837G>A (p.Arg1946Gln) c.5390G>A (p.Arg1797Gln) c.4727G>A (p.Arg1576Gln) c.9242G>A (p.Arg3081Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753466G>A | CA3202165 | DNAH5 | c.10639C>T (p.Arg3547Trp) c.10594C>T (p.Arg3532Trp) c.10747C>T (p.Arg3583Trp) c.9652C>T (p.Arg3218Trp) c.5836C>T (p.Arg1946Trp) c.5389C>T (p.Arg1797Trp) c.4726C>T (p.Arg1576Trp) c.9241C>T (p.Arg3081Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753466G>C | CA3202166 | DNAH5 | c.10639C>G (p.Arg3547Gly) c.10594C>G (p.Arg3532Gly) c.10747C>G (p.Arg3583Gly) c.9652C>G (p.Arg3218Gly) c.5836C>G (p.Arg1946Gly) c.5389C>G (p.Arg1797Gly) c.4726C>G (p.Arg1576Gly) c.9241C>G (p.Arg3081Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753466G= | CA1528423524 | DNAH5 | c.10639C= (p.Arg3547=) c.10594C= (p.Arg3532=) c.10747C= (p.Arg3583=) c.9652C= (p.Arg3218=) c.5836C= (p.Arg1946=) c.5389C= (p.Arg1797=) c.4726C= (p.Arg1576=) c.9241C= (p.Arg3081=) | |
5 | g.13753466G>T | CA443535946 | DNAH5 | c.10639C>A (p.Arg3547=) c.10594C>A (p.Arg3532=) c.10747C>A (p.Arg3583=) c.9652C>A (p.Arg3218=) c.5836C>A (p.Arg1946=) c.5389C>A (p.Arg1797=) c.4726C>A (p.Arg1576=) c.9241C>A (p.Arg3081=) | |
5 | g.13753467C>A | CA359192057 | DNAH5 | c.10638G>T (p.Trp3546Cys) c.10593G>T (p.Trp3531Cys) c.10746G>T (p.Trp3582Cys) c.9651G>T (p.Trp3217Cys) c.5835G>T (p.Trp1945Cys) c.5388G>T (p.Trp1796Cys) c.4725G>T (p.Trp1575Cys) c.9240G>T (p.Trp3080Cys) | |
5 | g.13753467C>G | CA359192058 | DNAH5 | c.10638G>C (p.Trp3546Cys) c.10593G>C (p.Trp3531Cys) c.10746G>C (p.Trp3582Cys) c.9651G>C (p.Trp3217Cys) c.5835G>C (p.Trp1945Cys) c.5388G>C (p.Trp1796Cys) c.4725G>C (p.Trp1575Cys) c.9240G>C (p.Trp3080Cys) | |
5 | g.13753467C>T | CA359192060 | DNAH5 | c.10638G>A (p.Trp3546Ter) c.10593G>A (p.Trp3531Ter) c.10746G>A (p.Trp3582Ter) c.9651G>A (p.Trp3217Ter) c.5835G>A (p.Trp1945Ter) c.5388G>A (p.Trp1796Ter) c.4725G>A (p.Trp1575Ter) c.9240G>A (p.Trp3080Ter) | |
5 | g.13753468C>A | CA359192065 | DNAH5 | c.10637G>T (p.Trp3546Leu) c.10592G>T (p.Trp3531Leu) c.10745G>T (p.Trp3582Leu) c.9650G>T (p.Trp3217Leu) c.5834G>T (p.Trp1945Leu) c.5387G>T (p.Trp1796Leu) c.4724G>T (p.Trp1575Leu) c.9239G>T (p.Trp3080Leu) | |
5 | g.13753468C>G | CA359192063 | DNAH5 | c.10637G>C (p.Trp3546Ser) c.10592G>C (p.Trp3531Ser) c.10745G>C (p.Trp3582Ser) c.9650G>C (p.Trp3217Ser) c.5834G>C (p.Trp1945Ser) c.5387G>C (p.Trp1796Ser) c.4724G>C (p.Trp1575Ser) c.9239G>C (p.Trp3080Ser) | |
5 | g.13753468C>T | CA359192062 | DNAH5 | c.10637G>A (p.Trp3546Ter) c.10592G>A (p.Trp3531Ter) c.10745G>A (p.Trp3582Ter) c.9650G>A (p.Trp3217Ter) c.5834G>A (p.Trp1945Ter) c.5387G>A (p.Trp1796Ter) c.4724G>A (p.Trp1575Ter) c.9239G>A (p.Trp3080Ter) | |
5 | g.13753469del | CA2673270451 | DNAH5 | c.10636del (p.Trp3546GlyfsTer5) c.10591del (p.Trp3531GlyfsTer5) c.10744del (p.Trp3582GlyfsTer5) c.9649del (p.Trp3217GlyfsTer5) c.5833del (p.Trp1945GlyfsTer5) c.5386del (p.Trp1796GlyfsTer5) c.4723del (p.Trp1575GlyfsTer5) c.9238del (p.Trp3080GlyfsTer5) | gnomAD v4 |
5 | g.13753469A= | CA1528423525 | DNAH5 | c.10636T= (p.Trp3546=) c.10591T= (p.Trp3531=) c.10744T= (p.Trp3582=) c.9649T= (p.Trp3217=) c.5833T= (p.Trp1945=) c.5386T= (p.Trp1796=) c.4723T= (p.Trp1575=) c.9238T= (p.Trp3080=) | |
5 | g.13753469A>C | CA359192067 | DNAH5 | c.10636T>G (p.Trp3546Gly) c.10591T>G (p.Trp3531Gly) c.10744T>G (p.Trp3582Gly) c.9649T>G (p.Trp3217Gly) c.5833T>G (p.Trp1945Gly) c.5386T>G (p.Trp1796Gly) c.4723T>G (p.Trp1575Gly) c.9238T>G (p.Trp3080Gly) | |
5 | g.13753469A>G | CA113919097 | DNAH5 | c.10636T>C (p.Trp3546Arg) c.10591T>C (p.Trp3531Arg) c.10744T>C (p.Trp3582Arg) c.9649T>C (p.Trp3217Arg) c.5833T>C (p.Trp1945Arg) c.5386T>C (p.Trp1796Arg) c.4723T>C (p.Trp1575Arg) c.9238T>C (p.Trp3080Arg) | dbSNP |
5 | g.13753469A>T | CA359192069 | DNAH5 | c.10636T>A (p.Trp3546Arg) c.10591T>A (p.Trp3531Arg) c.10744T>A (p.Trp3582Arg) c.9649T>A (p.Trp3217Arg) c.5833T>A (p.Trp1945Arg) c.5386T>A (p.Trp1796Arg) c.4723T>A (p.Trp1575Arg) c.9238T>A (p.Trp3080Arg) | |
5 | g.13753470G>A | CA443535953 | DNAH5 | c.10635C>T (p.Asp3545=) c.10590C>T (p.Asp3530=) c.10743C>T (p.Asp3581=) c.9648C>T (p.Asp3216=) c.5832C>T (p.Asp1944=) c.5385C>T (p.Asp1795=) c.4722C>T (p.Asp1574=) c.9237C>T (p.Asp3079=) | |
5 | g.13753470G>C | CA359192071 | DNAH5 | c.10635C>G (p.Asp3545Glu) c.10590C>G (p.Asp3530Glu) c.10743C>G (p.Asp3581Glu) c.9648C>G (p.Asp3216Glu) c.5832C>G (p.Asp1944Glu) c.5385C>G (p.Asp1795Glu) c.4722C>G (p.Asp1574Glu) c.9237C>G (p.Asp3079Glu) | |
5 | g.13753470G>T | CA359192073 | DNAH5 | c.10635C>A (p.Asp3545Glu) c.10590C>A (p.Asp3530Glu) c.10743C>A (p.Asp3581Glu) c.9648C>A (p.Asp3216Glu) c.5832C>A (p.Asp1944Glu) c.5385C>A (p.Asp1795Glu) c.4722C>A (p.Asp1574Glu) c.9237C>A (p.Asp3079Glu) | |
5 | g.13753471T>A | CA359192075 | DNAH5 | c.10634A>T (p.Asp3545Val) c.10589A>T (p.Asp3530Val) c.10742A>T (p.Asp3581Val) c.9647A>T (p.Asp3216Val) c.5831A>T (p.Asp1944Val) c.5384A>T (p.Asp1795Val) c.4721A>T (p.Asp1574Val) c.9236A>T (p.Asp3079Val) | ClinVar gnomAD v4 |
5 | g.13753471T>C | CA359192076 | DNAH5 | c.10634A>G (p.Asp3545Gly) c.10589A>G (p.Asp3530Gly) c.10742A>G (p.Asp3581Gly) c.9647A>G (p.Asp3216Gly) c.5831A>G (p.Asp1944Gly) c.5384A>G (p.Asp1795Gly) c.4721A>G (p.Asp1574Gly) c.9236A>G (p.Asp3079Gly) | |
5 | g.13753471T>G | CA359192078 | DNAH5 | c.10634A>C (p.Asp3545Ala) c.10589A>C (p.Asp3530Ala) c.10742A>C (p.Asp3581Ala) c.9647A>C (p.Asp3216Ala) c.5831A>C (p.Asp1944Ala) c.5384A>C (p.Asp1795Ala) c.4721A>C (p.Asp1574Ala) c.9236A>C (p.Asp3079Ala) | |
5 | g.13753472C>A | CA359192080 | DNAH5 | c.10633G>T (p.Asp3545Tyr) c.10588G>T (p.Asp3530Tyr) c.10741G>T (p.Asp3581Tyr) c.9646G>T (p.Asp3216Tyr) c.5830G>T (p.Asp1944Tyr) c.5383G>T (p.Asp1795Tyr) c.4720G>T (p.Asp1574Tyr) c.9235G>T (p.Asp3079Tyr) | dbSNP |
5 | g.13753472C= | CA1528423526 | DNAH5 | c.10633G= (p.Asp3545=) c.10588G= (p.Asp3530=) c.10741G= (p.Asp3581=) c.9646G= (p.Asp3216=) c.5830G= (p.Asp1944=) c.5383G= (p.Asp1795=) c.4720G= (p.Asp1574=) c.9235G= (p.Asp3079=) | |
5 | g.13753472C>G | CA359192081 | DNAH5 | c.10633G>C (p.Asp3545His) c.10588G>C (p.Asp3530His) c.10741G>C (p.Asp3581His) c.9646G>C (p.Asp3216His) c.5830G>C (p.Asp1944His) c.5383G>C (p.Asp1795His) c.4720G>C (p.Asp1574His) c.9235G>C (p.Asp3079His) | |
5 | g.13753472C>T | CA359192083 | DNAH5 | c.10633G>A (p.Asp3545Asn) c.10588G>A (p.Asp3530Asn) c.10741G>A (p.Asp3581Asn) c.9646G>A (p.Asp3216Asn) c.5830G>A (p.Asp1944Asn) c.5383G>A (p.Asp1795Asn) c.4720G>A (p.Asp1574Asn) c.9235G>A (p.Asp3079Asn) | gnomAD v4 |
5 | g.13753473del | CA2673270452 | DNAH5 | c.10632del (p.Asn3544LysfsTer7) c.10587del (p.Asn3529LysfsTer7) c.10740del (p.Asn3580LysfsTer7) c.9645del (p.Asn3215LysfsTer7) c.5829del (p.Asn1943LysfsTer7) c.5382del (p.Asn1794LysfsTer7) c.4719del (p.Asn1573LysfsTer7) c.9234del (p.Asn3078LysfsTer7) | gnomAD v4 |
5 | g.13753473A>C | CA359192084 | DNAH5 | c.10632T>G (p.Asn3544Lys) c.10587T>G (p.Asn3529Lys) c.10740T>G (p.Asn3580Lys) c.9645T>G (p.Asn3215Lys) c.5829T>G (p.Asn1943Lys) c.5382T>G (p.Asn1794Lys) c.4719T>G (p.Asn1573Lys) c.9234T>G (p.Asn3078Lys) | |
5 | g.13753473A>G | CA443535954 | DNAH5 | c.10632T>C (p.Asn3544=) c.10587T>C (p.Asn3529=) c.10740T>C (p.Asn3580=) c.9645T>C (p.Asn3215=) c.5829T>C (p.Asn1943=) c.5382T>C (p.Asn1794=) c.4719T>C (p.Asn1573=) c.9234T>C (p.Asn3078=) | |
5 | g.13753473A>T | CA359192085 | DNAH5 | c.10632T>A (p.Asn3544Lys) c.10587T>A (p.Asn3529Lys) c.10740T>A (p.Asn3580Lys) c.9645T>A (p.Asn3215Lys) c.5829T>A (p.Asn1943Lys) c.5382T>A (p.Asn1794Lys) c.4719T>A (p.Asn1573Lys) c.9234T>A (p.Asn3078Lys) | |
5 | g.13753474T>A | CA359192089 | DNAH5 | c.10631A>T (p.Asn3544Ile) c.10586A>T (p.Asn3529Ile) c.10739A>T (p.Asn3580Ile) c.9644A>T (p.Asn3215Ile) c.5828A>T (p.Asn1943Ile) c.5381A>T (p.Asn1794Ile) c.4718A>T (p.Asn1573Ile) c.9233A>T (p.Asn3078Ile) | |
5 | g.13753474T>C | CA359192090 | DNAH5 | c.10631A>G (p.Asn3544Ser) c.10586A>G (p.Asn3529Ser) c.10739A>G (p.Asn3580Ser) c.9644A>G (p.Asn3215Ser) c.5828A>G (p.Asn1943Ser) c.5381A>G (p.Asn1794Ser) c.4718A>G (p.Asn1573Ser) c.9233A>G (p.Asn3078Ser) | |
5 | g.13753474T>G | CA359192087 | DNAH5 | c.10631A>C (p.Asn3544Thr) c.10586A>C (p.Asn3529Thr) c.10739A>C (p.Asn3580Thr) c.9644A>C (p.Asn3215Thr) c.5828A>C (p.Asn1943Thr) c.5381A>C (p.Asn1794Thr) c.4718A>C (p.Asn1573Thr) c.9233A>C (p.Asn3078Thr) | |
5 | g.13753475T>A | CA359192094 | DNAH5 | c.10630A>T (p.Asn3544Tyr) c.10585A>T (p.Asn3529Tyr) c.10738A>T (p.Asn3580Tyr) c.9643A>T (p.Asn3215Tyr) c.5827A>T (p.Asn1943Tyr) c.5380A>T (p.Asn1794Tyr) c.4717A>T (p.Asn1573Tyr) c.9232A>T (p.Asn3078Tyr) | |
5 | g.13753475T>C | CA359192092 | DNAH5 | c.10630A>G (p.Asn3544Asp) c.10585A>G (p.Asn3529Asp) c.10738A>G (p.Asn3580Asp) c.9643A>G (p.Asn3215Asp) c.5827A>G (p.Asn1943Asp) c.5380A>G (p.Asn1794Asp) c.4717A>G (p.Asn1573Asp) c.9232A>G (p.Asn3078Asp) | |
5 | g.13753475T>G | CA359192095 | DNAH5 | c.10630A>C (p.Asn3544His) c.10585A>C (p.Asn3529His) c.10738A>C (p.Asn3580His) c.9643A>C (p.Asn3215His) c.5827A>C (p.Asn1943His) c.5380A>C (p.Asn1794His) c.4717A>C (p.Asn1573His) c.9232A>C (p.Asn3078His) | |
5 | g.13753475_13753477del | CA2765347527 | DNAH5 | c.10628_10630del (p.Leu3543_Asn3544delinsTyr) c.10583_10585del (p.Leu3528_Asn3529delinsTyr) c.10736_10738del (p.Leu3579_Asn3580delinsTyr) c.9641_9643del (p.Leu3214_Asn3215delinsTyr) c.5825_5827del (p.Leu1942_Asn1943delinsTyr) c.5378_5380del (p.Leu1793_Asn1794delinsTyr) c.4715_4717del (p.Leu1572_Asn1573delinsTyr) c.9230_9232del (p.Leu3077_Asn3078delinsTyr) | |
5 | g.13753476T>A | CA359192097 | DNAH5 | c.10629A>T (p.Leu3543Phe) c.10584A>T (p.Leu3528Phe) c.10737A>T (p.Leu3579Phe) c.9642A>T (p.Leu3214Phe) c.5826A>T (p.Leu1942Phe) c.5379A>T (p.Leu1793Phe) c.4716A>T (p.Leu1572Phe) c.9231A>T (p.Leu3077Phe) | |
5 | g.13753476T>C | CA443535955 | DNAH5 | c.10629A>G (p.Leu3543=) c.10584A>G (p.Leu3528=) c.10737A>G (p.Leu3579=) c.9642A>G (p.Leu3214=) c.5826A>G (p.Leu1942=) c.5379A>G (p.Leu1793=) c.4716A>G (p.Leu1572=) c.9231A>G (p.Leu3077=) | |
5 | g.13753476T>G | CA359192099 | DNAH5 | c.10629A>C (p.Leu3543Phe) c.10584A>C (p.Leu3528Phe) c.10737A>C (p.Leu3579Phe) c.9642A>C (p.Leu3214Phe) c.5826A>C (p.Leu1942Phe) c.5379A>C (p.Leu1793Phe) c.4716A>C (p.Leu1572Phe) c.9231A>C (p.Leu3077Phe) | |
5 | g.13753477A>C | CA359192101 | DNAH5 | c.10628T>G (p.Leu3543Ter) c.10583T>G (p.Leu3528Ter) c.10736T>G (p.Leu3579Ter) c.9641T>G (p.Leu3214Ter) c.5825T>G (p.Leu1942Ter) c.5378T>G (p.Leu1793Ter) c.4715T>G (p.Leu1572Ter) c.9230T>G (p.Leu3077Ter) | |
5 | g.13753477A>G | CA359192104 | DNAH5 | c.10628T>C (p.Leu3543Ser) c.10583T>C (p.Leu3528Ser) c.10736T>C (p.Leu3579Ser) c.9641T>C (p.Leu3214Ser) c.5825T>C (p.Leu1942Ser) c.5378T>C (p.Leu1793Ser) c.4715T>C (p.Leu1572Ser) c.9230T>C (p.Leu3077Ser) | |
5 | g.13753477A>T | CA359192103 | DNAH5 | c.10628T>A (p.Leu3543Ter) c.10583T>A (p.Leu3528Ter) c.10736T>A (p.Leu3579Ter) c.9641T>A (p.Leu3214Ter) c.5825T>A (p.Leu1942Ter) c.5378T>A (p.Leu1793Ter) c.4715T>A (p.Leu1572Ter) c.9230T>A (p.Leu3077Ter) | gnomAD v4 |
5 | g.13753478A= | CA1528423527 | DNAH5 | c.10627T= (p.Leu3543=) c.10582T= (p.Leu3528=) c.10735T= (p.Leu3579=) c.9640T= (p.Leu3214=) c.5824T= (p.Leu1942=) c.5377T= (p.Leu1793=) c.4714T= (p.Leu1572=) c.9229T= (p.Leu3077=) | |
5 | g.13753478A>C | CA359192106 | DNAH5 | c.10627T>G (p.Leu3543Val) c.10582T>G (p.Leu3528Val) c.10735T>G (p.Leu3579Val) c.9640T>G (p.Leu3214Val) c.5824T>G (p.Leu1942Val) c.5377T>G (p.Leu1793Val) c.4714T>G (p.Leu1572Val) c.9229T>G (p.Leu3077Val) | |
5 | g.13753478A>G | CA3202167 | DNAH5 | c.10627T>C (p.Leu3543=) c.10582T>C (p.Leu3528=) c.10735T>C (p.Leu3579=) c.9640T>C (p.Leu3214=) c.5824T>C (p.Leu1942=) c.5377T>C (p.Leu1793=) c.4714T>C (p.Leu1572=) c.9229T>C (p.Leu3077=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753478A>T | CA359192108 | DNAH5 | c.10627T>A (p.Leu3543Ile) c.10582T>A (p.Leu3528Ile) c.10735T>A (p.Leu3579Ile) c.9640T>A (p.Leu3214Ile) c.5824T>A (p.Leu1942Ile) c.5377T>A (p.Leu1793Ile) c.4714T>A (p.Leu1572Ile) c.9229T>A (p.Leu3077Ile) | |
5 | g.13753479C>A | CA443535956 | DNAH5 | c.10626G>T (p.Leu3542=) c.10581G>T (p.Leu3527=) c.10734G>T (p.Leu3578=) c.9639G>T (p.Leu3213=) c.5823G>T (p.Leu1941=) c.5376G>T (p.Leu1792=) c.4713G>T (p.Leu1571=) c.9228G>T (p.Leu3076=) | |
5 | g.13753479C= | CA1528423528 | DNAH5 | c.10626G= (p.Leu3542=) c.10581G= (p.Leu3527=) c.10734G= (p.Leu3578=) c.9639G= (p.Leu3213=) c.5823G= (p.Leu1941=) c.5376G= (p.Leu1792=) c.4713G= (p.Leu1571=) c.9228G= (p.Leu3076=) | |
5 | g.13753479C>G | CA443535957 | DNAH5 | c.10626G>C (p.Leu3542=) c.10581G>C (p.Leu3527=) c.10734G>C (p.Leu3578=) c.9639G>C (p.Leu3213=) c.5823G>C (p.Leu1941=) c.5376G>C (p.Leu1792=) c.4713G>C (p.Leu1571=) c.9228G>C (p.Leu3076=) | |
5 | g.13753479C>T | CA443535958 | DNAH5 | c.10626G>A (p.Leu3542=) c.10581G>A (p.Leu3527=) c.10734G>A (p.Leu3578=) c.9639G>A (p.Leu3213=) c.5823G>A (p.Leu1941=) c.5376G>A (p.Leu1792=) c.4713G>A (p.Leu1571=) c.9228G>A (p.Leu3076=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753480A>C | CA359192111 | DNAH5 | c.10625T>G (p.Leu3542Arg) c.10580T>G (p.Leu3527Arg) c.10733T>G (p.Leu3578Arg) c.9638T>G (p.Leu3213Arg) c.5822T>G (p.Leu1941Arg) c.5375T>G (p.Leu1792Arg) c.4712T>G (p.Leu1571Arg) c.9227T>G (p.Leu3076Arg) | |
5 | g.13753480A>G | CA359192112 | DNAH5 | c.10625T>C (p.Leu3542Pro) c.10580T>C (p.Leu3527Pro) c.10733T>C (p.Leu3578Pro) c.9638T>C (p.Leu3213Pro) c.5822T>C (p.Leu1941Pro) c.5375T>C (p.Leu1792Pro) c.4712T>C (p.Leu1571Pro) c.9227T>C (p.Leu3076Pro) | |
5 | g.13753480A>T | CA359192113 | DNAH5 | c.10625T>A (p.Leu3542Gln) c.10580T>A (p.Leu3527Gln) c.10733T>A (p.Leu3578Gln) c.9638T>A (p.Leu3213Gln) c.5822T>A (p.Leu1941Gln) c.5375T>A (p.Leu1792Gln) c.4712T>A (p.Leu1571Gln) c.9227T>A (p.Leu3076Gln) | |
5 | g.13753481G>A | CA443535960 | DNAH5 | c.10624C>T (p.Leu3542=) c.10579C>T (p.Leu3527=) c.10732C>T (p.Leu3578=) c.9637C>T (p.Leu3213=) c.5821C>T (p.Leu1941=) c.5374C>T (p.Leu1792=) c.4711C>T (p.Leu1571=) c.9226C>T (p.Leu3076=) | COSMIC |
5 | g.13753481G>C | CA359192115 | DNAH5 | c.10624C>G (p.Leu3542Val) c.10579C>G (p.Leu3527Val) c.10732C>G (p.Leu3578Val) c.9637C>G (p.Leu3213Val) c.5821C>G (p.Leu1941Val) c.5374C>G (p.Leu1792Val) c.4711C>G (p.Leu1571Val) c.9226C>G (p.Leu3076Val) | |
5 | g.13753481G= | CA1528423529 | DNAH5 | c.10624C= (p.Leu3542=) c.10579C= (p.Leu3527=) c.10732C= (p.Leu3578=) c.9637C= (p.Leu3213=) c.5821C= (p.Leu1941=) c.5374C= (p.Leu1792=) c.4711C= (p.Leu1571=) c.9226C= (p.Leu3076=) | |
5 | g.13753481G>T | CA359192117 | DNAH5 | c.10624C>A (p.Leu3542Met) c.10579C>A (p.Leu3527Met) c.10732C>A (p.Leu3578Met) c.9637C>A (p.Leu3213Met) c.5821C>A (p.Leu1941Met) c.5374C>A (p.Leu1792Met) c.4711C>A (p.Leu1571Met) c.9226C>A (p.Leu3076Met) | dbSNP gnomAD v4 |
5 | g.13753482A>C | CA443535963 | DNAH5 | c.10623T>G (p.Leu3541=) c.10578T>G (p.Leu3526=) c.10731T>G (p.Leu3577=) c.9636T>G (p.Leu3212=) c.5820T>G (p.Leu1940=) c.5373T>G (p.Leu1791=) c.4710T>G (p.Leu1570=) c.9225T>G (p.Leu3075=) | |
5 | g.13753482A>G | CA443535962 | DNAH5 | c.10623T>C (p.Leu3541=) c.10578T>C (p.Leu3526=) c.10731T>C (p.Leu3577=) c.9636T>C (p.Leu3212=) c.5820T>C (p.Leu1940=) c.5373T>C (p.Leu1791=) c.4710T>C (p.Leu1570=) c.9225T>C (p.Leu3075=) | |
5 | g.13753482A>T | CA443535961 | DNAH5 | c.10623T>A (p.Leu3541=) c.10578T>A (p.Leu3526=) c.10731T>A (p.Leu3577=) c.9636T>A (p.Leu3212=) c.5820T>A (p.Leu1940=) c.5373T>A (p.Leu1791=) c.4710T>A (p.Leu1570=) c.9225T>A (p.Leu3075=) | |
5 | g.13753483A>C | CA359192119 | DNAH5 | c.10622T>G (p.Leu3541Arg) c.10577T>G (p.Leu3526Arg) c.10730T>G (p.Leu3577Arg) c.9635T>G (p.Leu3212Arg) c.5819T>G (p.Leu1940Arg) c.5372T>G (p.Leu1791Arg) c.4709T>G (p.Leu1570Arg) c.9224T>G (p.Leu3075Arg) | |
5 | g.13753483A>G | CA359192120 | DNAH5 | c.10622T>C (p.Leu3541Pro) c.10577T>C (p.Leu3526Pro) c.10730T>C (p.Leu3577Pro) c.9635T>C (p.Leu3212Pro) c.5819T>C (p.Leu1940Pro) c.5372T>C (p.Leu1791Pro) c.4709T>C (p.Leu1570Pro) c.9224T>C (p.Leu3075Pro) | |
5 | g.13753483A>T | CA359192122 | DNAH5 | c.10622T>A (p.Leu3541His) c.10577T>A (p.Leu3526His) c.10730T>A (p.Leu3577His) c.9635T>A (p.Leu3212His) c.5819T>A (p.Leu1940His) c.5372T>A (p.Leu1791His) c.4709T>A (p.Leu1570His) c.9224T>A (p.Leu3075His) | |
5 | g.13753484G>A | CA359192127 | DNAH5 | c.10621C>T (p.Leu3541Phe) c.10576C>T (p.Leu3526Phe) c.10729C>T (p.Leu3577Phe) c.9634C>T (p.Leu3212Phe) c.5818C>T (p.Leu1940Phe) c.5371C>T (p.Leu1791Phe) c.4708C>T (p.Leu1570Phe) c.9223C>T (p.Leu3075Phe) | dbSNP gnomAD v4 |
5 | g.13753484G>C | CA359192126 | DNAH5 | c.10621C>G (p.Leu3541Val) c.10576C>G (p.Leu3526Val) c.10729C>G (p.Leu3577Val) c.9634C>G (p.Leu3212Val) c.5818C>G (p.Leu1940Val) c.5371C>G (p.Leu1791Val) c.4708C>G (p.Leu1570Val) c.9223C>G (p.Leu3075Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753484G= | CA1528423530 | DNAH5 | c.10621C= (p.Leu3541=) c.10576C= (p.Leu3526=) c.10729C= (p.Leu3577=) c.9634C= (p.Leu3212=) c.5818C= (p.Leu1940=) c.5371C= (p.Leu1791=) c.4708C= (p.Leu1570=) c.9223C= (p.Leu3075=) | |
5 | g.13753484G>T | CA359192124 | DNAH5 | c.10621C>A (p.Leu3541Ile) c.10576C>A (p.Leu3526Ile) c.10729C>A (p.Leu3577Ile) c.9634C>A (p.Leu3212Ile) c.5818C>A (p.Leu1940Ile) c.5371C>A (p.Leu1791Ile) c.4708C>A (p.Leu1570Ile) c.9223C>A (p.Leu3075Ile) | |
5 | g.13753485A= | CA1528423531 | DNAH5 | c.10620T= (p.Asp3540=) c.10575T= (p.Asp3525=) c.10728T= (p.Asp3576=) c.9633T= (p.Asp3211=) c.5817T= (p.Asp1939=) c.5370T= (p.Asp1790=) c.4707T= (p.Asp1569=) c.9222T= (p.Asp3074=) | |
5 | g.13753485A>C | CA359192128 | DNAH5 | c.10620T>G (p.Asp3540Glu) c.10575T>G (p.Asp3525Glu) c.10728T>G (p.Asp3576Glu) c.9633T>G (p.Asp3211Glu) c.5817T>G (p.Asp1939Glu) c.5370T>G (p.Asp1790Glu) c.4707T>G (p.Asp1569Glu) c.9222T>G (p.Asp3074Glu) | |
5 | g.13753485A>G | CA443535967 | DNAH5 | c.10620T>C (p.Asp3540=) c.10575T>C (p.Asp3525=) c.10728T>C (p.Asp3576=) c.9633T>C (p.Asp3211=) c.5817T>C (p.Asp1939=) c.5370T>C (p.Asp1790=) c.4707T>C (p.Asp1569=) c.9222T>C (p.Asp3074=) | |
5 | g.13753485A>T | CA359192130 | DNAH5 | c.10620T>A (p.Asp3540Glu) c.10575T>A (p.Asp3525Glu) c.10728T>A (p.Asp3576Glu) c.9633T>A (p.Asp3211Glu) c.5817T>A (p.Asp1939Glu) c.5370T>A (p.Asp1790Glu) c.4707T>A (p.Asp1569Glu) c.9222T>A (p.Asp3074Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753486T>A | CA359192131 | DNAH5 | c.10619A>T (p.Asp3540Val) c.10574A>T (p.Asp3525Val) c.10727A>T (p.Asp3576Val) c.9632A>T (p.Asp3211Val) c.5816A>T (p.Asp1939Val) c.5369A>T (p.Asp1790Val) c.4706A>T (p.Asp1569Val) c.9221A>T (p.Asp3074Val) | |
5 | g.13753486T>C | CA359192133 | DNAH5 | c.10619A>G (p.Asp3540Gly) c.10574A>G (p.Asp3525Gly) c.10727A>G (p.Asp3576Gly) c.9632A>G (p.Asp3211Gly) c.5816A>G (p.Asp1939Gly) c.5369A>G (p.Asp1790Gly) c.4706A>G (p.Asp1569Gly) c.9221A>G (p.Asp3074Gly) | dbSNP gnomAD v4 |
5 | g.13753486T>G | CA359192135 | DNAH5 | c.10619A>C (p.Asp3540Ala) c.10574A>C (p.Asp3525Ala) c.10727A>C (p.Asp3576Ala) c.9632A>C (p.Asp3211Ala) c.5816A>C (p.Asp1939Ala) c.5369A>C (p.Asp1790Ala) c.4706A>C (p.Asp1569Ala) c.9221A>C (p.Asp3074Ala) | ClinVar dbSNP |
5 | g.13753486T= | CA1528423532 | DNAH5 | c.10619A= (p.Asp3540=) c.10574A= (p.Asp3525=) c.10727A= (p.Asp3576=) c.9632A= (p.Asp3211=) c.5816A= (p.Asp1939=) c.5369A= (p.Asp1790=) c.4706A= (p.Asp1569=) c.9221A= (p.Asp3074=) | |
5 | g.13753487C>A | CA359192137 | DNAH5 | c.10618G>T (p.Asp3540Tyr) c.10573G>T (p.Asp3525Tyr) c.10726G>T (p.Asp3576Tyr) c.9631G>T (p.Asp3211Tyr) c.5815G>T (p.Asp1939Tyr) c.5368G>T (p.Asp1790Tyr) c.4705G>T (p.Asp1569Tyr) c.9220G>T (p.Asp3074Tyr) | |
5 | g.13753487C= | CA1528423533 | DNAH5 | c.10618G= (p.Asp3540=) c.10573G= (p.Asp3525=) c.10726G= (p.Asp3576=) c.9631G= (p.Asp3211=) c.5815G= (p.Asp1939=) c.5368G= (p.Asp1790=) c.4705G= (p.Asp1569=) c.9220G= (p.Asp3074=) | |
5 | g.13753487C>G | CA3202168 | DNAH5 | c.10618G>C (p.Asp3540His) c.10573G>C (p.Asp3525His) c.10726G>C (p.Asp3576His) c.9631G>C (p.Asp3211His) c.5815G>C (p.Asp1939His) c.5368G>C (p.Asp1790His) c.4705G>C (p.Asp1569His) c.9220G>C (p.Asp3074His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753487C>T | CA359192138 | DNAH5 | c.10618G>A (p.Asp3540Asn) c.10573G>A (p.Asp3525Asn) c.10726G>A (p.Asp3576Asn) c.9631G>A (p.Asp3211Asn) c.5815G>A (p.Asp1939Asn) c.5368G>A (p.Asp1790Asn) c.4705G>A (p.Asp1569Asn) c.9220G>A (p.Asp3074Asn) | COSMIC |
5 | g.13753488A>C | CA443535970 | DNAH5 | c.10617T>G (p.Arg3539=) c.10572T>G (p.Arg3524=) c.10725T>G (p.Arg3575=) c.9630T>G (p.Arg3210=) c.5814T>G (p.Arg1938=) c.5367T>G (p.Arg1789=) c.4704T>G (p.Arg1568=) c.9219T>G (p.Arg3073=) | gnomAD v4 |
5 | g.13753488A>G | CA443535971 | DNAH5 | c.10617T>C (p.Arg3539=) c.10572T>C (p.Arg3524=) c.10725T>C (p.Arg3575=) c.9630T>C (p.Arg3210=) c.5814T>C (p.Arg1938=) c.5367T>C (p.Arg1789=) c.4704T>C (p.Arg1568=) c.9219T>C (p.Arg3073=) | gnomAD v4 |
5 | g.13753488A>T | CA443535973 | DNAH5 | c.10617T>A (p.Arg3539=) c.10572T>A (p.Arg3524=) c.10725T>A (p.Arg3575=) c.9630T>A (p.Arg3210=) c.5814T>A (p.Arg1938=) c.5367T>A (p.Arg1789=) c.4704T>A (p.Arg1568=) c.9219T>A (p.Arg3073=) | |
5 | g.13753489C>A | CA359192140 | DNAH5 | c.10616G>T (p.Arg3539Leu) c.10571G>T (p.Arg3524Leu) c.10724G>T (p.Arg3575Leu) c.9629G>T (p.Arg3210Leu) c.5813G>T (p.Arg1938Leu) c.5366G>T (p.Arg1789Leu) c.4703G>T (p.Arg1568Leu) c.9218G>T (p.Arg3073Leu) | |
5 | g.13753489C= | CA1528423534 | DNAH5 | c.10616G= (p.Arg3539=) c.10571G= (p.Arg3524=) c.10724G= (p.Arg3575=) c.9629G= (p.Arg3210=) c.5813G= (p.Arg1938=) c.5366G= (p.Arg1789=) c.4703G= (p.Arg1568=) c.9218G= (p.Arg3073=) | |
5 | g.13753489C>G | CA359192142 | DNAH5 | c.10616G>C (p.Arg3539Pro) c.10571G>C (p.Arg3524Pro) c.10724G>C (p.Arg3575Pro) c.9629G>C (p.Arg3210Pro) c.5813G>C (p.Arg1938Pro) c.5366G>C (p.Arg1789Pro) c.4703G>C (p.Arg1568Pro) c.9218G>C (p.Arg3073Pro) | ClinVar gnomAD v4 |
5 | g.13753489C>T | CA337718 | DNAH5 | c.10616G>A (p.Arg3539His) c.10571G>A (p.Arg3524His) c.10724G>A (p.Arg3575His) c.9629G>A (p.Arg3210His) c.5813G>A (p.Arg1938His) c.5366G>A (p.Arg1789His) c.4703G>A (p.Arg1568His) c.9218G>A (p.Arg3073His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753490G>A | CA359192148 | DNAH5 | c.10615C>T (p.Arg3539Cys) c.10570C>T (p.Arg3524Cys) c.10723C>T (p.Arg3575Cys) c.9628C>T (p.Arg3210Cys) c.5812C>T (p.Arg1938Cys) c.5365C>T (p.Arg1789Cys) c.4702C>T (p.Arg1568Cys) c.9217C>T (p.Arg3073Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13753490G>C | CA359192146 | DNAH5 | c.10615C>G (p.Arg3539Gly) c.10570C>G (p.Arg3524Gly) c.10723C>G (p.Arg3575Gly) c.9628C>G (p.Arg3210Gly) c.5812C>G (p.Arg1938Gly) c.5365C>G (p.Arg1789Gly) c.4702C>G (p.Arg1568Gly) c.9217C>G (p.Arg3073Gly) | |
5 | g.13753490G= | CA1528423535 | DNAH5 | c.10615C= (p.Arg3539=) c.10570C= (p.Arg3524=) c.10723C= (p.Arg3575=) c.9628C= (p.Arg3210=) c.5812C= (p.Arg1938=) c.5365C= (p.Arg1789=) c.4702C= (p.Arg1568=) c.9217C= (p.Arg3073=) | |
5 | g.13753490G>T | CA359192145 | DNAH5 | c.10615C>A (p.Arg3539Ser) c.10570C>A (p.Arg3524Ser) c.10723C>A (p.Arg3575Ser) c.9628C>A (p.Arg3210Ser) c.5812C>A (p.Arg1938Ser) c.5365C>A (p.Arg1789Ser) c.4702C>A (p.Arg1568Ser) c.9217C>A (p.Arg3073Ser) | |
5 | g.13753491A>C | CA359192150 | DNAH5 | c.10614T>G (p.Phe3538Leu) c.10569T>G (p.Phe3523Leu) c.10722T>G (p.Phe3574Leu) c.9627T>G (p.Phe3209Leu) c.5811T>G (p.Phe1937Leu) c.5364T>G (p.Phe1788Leu) c.4701T>G (p.Phe1567Leu) c.9216T>G (p.Phe3072Leu) | |
5 | g.13753491A>G | CA443535975 | DNAH5 | c.10614T>C (p.Phe3538=) c.10569T>C (p.Phe3523=) c.10722T>C (p.Phe3574=) c.9627T>C (p.Phe3209=) c.5811T>C (p.Phe1937=) c.5364T>C (p.Phe1788=) c.4701T>C (p.Phe1567=) c.9216T>C (p.Phe3072=) | |
5 | g.13753491A>T | CA359192151 | DNAH5 | c.10614T>A (p.Phe3538Leu) c.10569T>A (p.Phe3523Leu) c.10722T>A (p.Phe3574Leu) c.9627T>A (p.Phe3209Leu) c.5811T>A (p.Phe1937Leu) c.5364T>A (p.Phe1788Leu) c.4701T>A (p.Phe1567Leu) c.9216T>A (p.Phe3072Leu) | |
5 | g.13753492A>C | CA359192153 | DNAH5 | c.10613T>G (p.Phe3538Cys) c.10568T>G (p.Phe3523Cys) c.10721T>G (p.Phe3574Cys) c.9626T>G (p.Phe3209Cys) c.5810T>G (p.Phe1937Cys) c.5363T>G (p.Phe1788Cys) c.4700T>G (p.Phe1567Cys) c.9215T>G (p.Phe3072Cys) | COSMIC |
5 | g.13753492A>G | CA359192155 | DNAH5 | c.10613T>C (p.Phe3538Ser) c.10568T>C (p.Phe3523Ser) c.10721T>C (p.Phe3574Ser) c.9626T>C (p.Phe3209Ser) c.5810T>C (p.Phe1937Ser) c.5363T>C (p.Phe1788Ser) c.4700T>C (p.Phe1567Ser) c.9215T>C (p.Phe3072Ser) | |
5 | g.13753492A>T | CA359192156 | DNAH5 | c.10613T>A (p.Phe3538Tyr) c.10568T>A (p.Phe3523Tyr) c.10721T>A (p.Phe3574Tyr) c.9626T>A (p.Phe3209Tyr) c.5810T>A (p.Phe1937Tyr) c.5363T>A (p.Phe1788Tyr) c.4700T>A (p.Phe1567Tyr) c.9215T>A (p.Phe3072Tyr) | |
5 | g.13753493A>C | CA359192162 | DNAH5 | c.10612T>G (p.Phe3538Val) c.10567T>G (p.Phe3523Val) c.10720T>G (p.Phe3574Val) c.9625T>G (p.Phe3209Val) c.5809T>G (p.Phe1937Val) c.5362T>G (p.Phe1788Val) c.4699T>G (p.Phe1567Val) c.9214T>G (p.Phe3072Val) | COSMIC |
5 | g.13753493A>G | CA359192161 | DNAH5 | c.10612T>C (p.Phe3538Leu) c.10567T>C (p.Phe3523Leu) c.10720T>C (p.Phe3574Leu) c.9625T>C (p.Phe3209Leu) c.5809T>C (p.Phe1937Leu) c.5362T>C (p.Phe1788Leu) c.4699T>C (p.Phe1567Leu) c.9214T>C (p.Phe3072Leu) | |
5 | g.13753493A>T | CA359192159 | DNAH5 | c.10612T>A (p.Phe3538Ile) c.10567T>A (p.Phe3523Ile) c.10720T>A (p.Phe3574Ile) c.9625T>A (p.Phe3209Ile) c.5809T>A (p.Phe1937Ile) c.5362T>A (p.Phe1788Ile) c.4699T>A (p.Phe1567Ile) c.9214T>A (p.Phe3072Ile) | |
5 | g.13753494C>A | CA359192164 | DNAH5 | c.10611G>T (p.Glu3537Asp) c.10566G>T (p.Glu3522Asp) c.10719G>T (p.Glu3573Asp) c.9624G>T (p.Glu3208Asp) c.5808G>T (p.Glu1936Asp) c.5361G>T (p.Glu1787Asp) c.4698G>T (p.Glu1566Asp) c.9213G>T (p.Glu3071Asp) | COSMIC |
5 | g.13753494C= | CA1528423536 | DNAH5 | c.10611G= (p.Glu3537=) c.10566G= (p.Glu3522=) c.10719G= (p.Glu3573=) c.9624G= (p.Glu3208=) c.5808G= (p.Glu1936=) c.5361G= (p.Glu1787=) c.4698G= (p.Glu1566=) c.9213G= (p.Glu3071=) | |
5 | g.13753494C>G | CA359192166 | DNAH5 | c.10611G>C (p.Glu3537Asp) c.10566G>C (p.Glu3522Asp) c.10719G>C (p.Glu3573Asp) c.9624G>C (p.Glu3208Asp) c.5808G>C (p.Glu1936Asp) c.5361G>C (p.Glu1787Asp) c.4698G>C (p.Glu1566Asp) c.9213G>C (p.Glu3071Asp) | |
5 | g.13753494C>T | CA3202169 | DNAH5 | c.10611G>A (p.Glu3537=) c.10566G>A (p.Glu3522=) c.10719G>A (p.Glu3573=) c.9624G>A (p.Glu3208=) c.5808G>A (p.Glu1936=) c.5361G>A (p.Glu1787=) c.4698G>A (p.Glu1566=) c.9213G>A (p.Glu3071=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753495T>A | CA359192167 | DNAH5 | c.10610A>T (p.Glu3537Val) c.10565A>T (p.Glu3522Val) c.10718A>T (p.Glu3573Val) c.9623A>T (p.Glu3208Val) c.5807A>T (p.Glu1936Val) c.5360A>T (p.Glu1787Val) c.4697A>T (p.Glu1566Val) c.9212A>T (p.Glu3071Val) | |
5 | g.13753495T>C | CA359192169 | DNAH5 | c.10610A>G (p.Glu3537Gly) c.10565A>G (p.Glu3522Gly) c.10718A>G (p.Glu3573Gly) c.9623A>G (p.Glu3208Gly) c.5807A>G (p.Glu1936Gly) c.5360A>G (p.Glu1787Gly) c.4697A>G (p.Glu1566Gly) c.9212A>G (p.Glu3071Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753495T>G | CA359192171 | DNAH5 | c.10610A>C (p.Glu3537Ala) c.10565A>C (p.Glu3522Ala) c.10718A>C (p.Glu3573Ala) c.9623A>C (p.Glu3208Ala) c.5807A>C (p.Glu1936Ala) c.5360A>C (p.Glu1787Ala) c.4697A>C (p.Glu1566Ala) c.9212A>C (p.Glu3071Ala) | |
5 | g.13753495T= | CA1528423537 | DNAH5 | c.10610A= (p.Glu3537=) c.10565A= (p.Glu3522=) c.10718A= (p.Glu3573=) c.9623A= (p.Glu3208=) c.5807A= (p.Glu1936=) c.5360A= (p.Glu1787=) c.4697A= (p.Glu1566=) c.9212A= (p.Glu3071=) | |
5 | g.13753496C>A | CA359192173 | DNAH5 | c.10609G>T (p.Glu3537Ter) c.10564G>T (p.Glu3522Ter) c.10717G>T (p.Glu3573Ter) c.9622G>T (p.Glu3208Ter) c.5806G>T (p.Glu1936Ter) c.5359G>T (p.Glu1787Ter) c.4696G>T (p.Glu1566Ter) c.9211G>T (p.Glu3071Ter) | |
5 | g.13753496C= | CA1528423538 | DNAH5 | c.10609G= (p.Glu3537=) c.10564G= (p.Glu3522=) c.10717G= (p.Glu3573=) c.9622G= (p.Glu3208=) c.5806G= (p.Glu1936=) c.5359G= (p.Glu1787=) c.4696G= (p.Glu1566=) c.9211G= (p.Glu3071=) | |
5 | g.13753496C>G | CA359192175 | DNAH5 | c.10609G>C (p.Glu3537Gln) c.10564G>C (p.Glu3522Gln) c.10717G>C (p.Glu3573Gln) c.9622G>C (p.Glu3208Gln) c.5806G>C (p.Glu1936Gln) c.5359G>C (p.Glu1787Gln) c.4696G>C (p.Glu1566Gln) c.9211G>C (p.Glu3071Gln) | |
5 | g.13753496C>T | CA359192174 | DNAH5 | c.10609G>A (p.Glu3537Lys) c.10564G>A (p.Glu3522Lys) c.10717G>A (p.Glu3573Lys) c.9622G>A (p.Glu3208Lys) c.5806G>A (p.Glu1936Lys) c.5359G>A (p.Glu1787Lys) c.4696G>A (p.Glu1566Lys) c.9211G>A (p.Glu3071Lys) | |
5 | g.13753497T>A | CA359192177 | DNAH5 | c.10608A>T (p.Gln3536His) c.10563A>T (p.Gln3521His) c.10716A>T (p.Gln3572His) c.9621A>T (p.Gln3207His) c.5805A>T (p.Gln1935His) c.5358A>T (p.Gln1786His) c.4695A>T (p.Gln1565His) c.9210A>T (p.Gln3070His) | |
5 | g.13753497T>C | CA443535976 | DNAH5 | c.10608A>G (p.Gln3536=) c.10563A>G (p.Gln3521=) c.10716A>G (p.Gln3572=) c.9621A>G (p.Gln3207=) c.5805A>G (p.Gln1935=) c.5358A>G (p.Gln1786=) c.4695A>G (p.Gln1565=) c.9210A>G (p.Gln3070=) | gnomAD v4 |
5 | g.13753497T>G | CA359192178 | DNAH5 | c.10608A>C (p.Gln3536His) c.10563A>C (p.Gln3521His) c.10716A>C (p.Gln3572His) c.9621A>C (p.Gln3207His) c.5805A>C (p.Gln1935His) c.5358A>C (p.Gln1786His) c.4695A>C (p.Gln1565His) c.9210A>C (p.Gln3070His) | gnomAD v4 |
5 | g.13753498del | CA2673270453 | DNAH5 | c.10608del (p.Glu3537SerfsTer7) c.10563del (p.Glu3522SerfsTer7) c.10716del (p.Glu3573SerfsTer7) c.9621del (p.Glu3208SerfsTer7) c.5805del (p.Glu1936SerfsTer7) c.5358del (p.Glu1787SerfsTer7) c.4695del (p.Glu1566SerfsTer7) c.9210del (p.Glu3071SerfsTer7) | gnomAD v4 |
5 | g.13753498_13753502dup | CA557876529 | DNAH5 | c.10604_10608dup (p.Glu3537ThrfsTer9) c.10559_10563dup (p.Glu3522ThrfsTer9) c.10712_10716dup (p.Glu3573ThrfsTer9) c.9617_9621dup (p.Glu3208ThrfsTer9) c.5801_5805dup (p.Glu1936ThrfsTer9) c.5354_5358dup (p.Glu1787ThrfsTer9) c.4691_4695dup (p.Glu1566ThrfsTer9) c.9206_9210dup (p.Glu3071ThrfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753498T>A | CA359192181 | DNAH5 | c.10607A>T (p.Gln3536Leu) c.10562A>T (p.Gln3521Leu) c.10715A>T (p.Gln3572Leu) c.9620A>T (p.Gln3207Leu) c.5804A>T (p.Gln1935Leu) c.5357A>T (p.Gln1786Leu) c.4694A>T (p.Gln1565Leu) c.9209A>T (p.Gln3070Leu) | |
5 | g.13753498T>C | CA359192183 | DNAH5 | c.10607A>G (p.Gln3536Arg) c.10562A>G (p.Gln3521Arg) c.10715A>G (p.Gln3572Arg) c.9620A>G (p.Gln3207Arg) c.5804A>G (p.Gln1935Arg) c.5357A>G (p.Gln1786Arg) c.4694A>G (p.Gln1565Arg) c.9209A>G (p.Gln3070Arg) | |
5 | g.13753498T>G | CA359192184 | DNAH5 | c.10607A>C (p.Gln3536Pro) c.10562A>C (p.Gln3521Pro) c.10715A>C (p.Gln3572Pro) c.9620A>C (p.Gln3207Pro) c.5804A>C (p.Gln1935Pro) c.5357A>C (p.Gln1786Pro) c.4694A>C (p.Gln1565Pro) c.9209A>C (p.Gln3070Pro) | |
5 | g.13753499G>A | CA359192186 | DNAH5 | c.10606C>T (p.Gln3536Ter) c.10561C>T (p.Gln3521Ter) c.10714C>T (p.Gln3572Ter) c.9619C>T (p.Gln3207Ter) c.5803C>T (p.Gln1935Ter) c.5356C>T (p.Gln1786Ter) c.4693C>T (p.Gln1565Ter) c.9208C>T (p.Gln3070Ter) | |
5 | g.13753499G>C | CA359192188 | DNAH5 | c.10606C>G (p.Gln3536Glu) c.10561C>G (p.Gln3521Glu) c.10714C>G (p.Gln3572Glu) c.9619C>G (p.Gln3207Glu) c.5803C>G (p.Gln1935Glu) c.5356C>G (p.Gln1786Glu) c.4693C>G (p.Gln1565Glu) c.9208C>G (p.Gln3070Glu) | gnomAD v4 |
5 | g.13753499G= | CA1528423539 | DNAH5 | c.10606C= (p.Gln3536=) c.10561C= (p.Gln3521=) c.10714C= (p.Gln3572=) c.9619C= (p.Gln3207=) c.5803C= (p.Gln1935=) c.5356C= (p.Gln1786=) c.4693C= (p.Gln1565=) c.9208C= (p.Gln3070=) | |
5 | g.13753499G>T | CA359192190 | DNAH5 | c.10606C>A (p.Gln3536Lys) c.10561C>A (p.Gln3521Lys) c.10714C>A (p.Gln3572Lys) c.9619C>A (p.Gln3207Lys) c.5803C>A (p.Gln1935Lys) c.5356C>A (p.Gln1786Lys) c.4693C>A (p.Gln1565Lys) c.9208C>A (p.Gln3070Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753500G>A | CA443535980 | DNAH5 | c.10605C>T (p.Asn3535=) c.10560C>T (p.Asn3520=) c.10713C>T (p.Asn3571=) c.9618C>T (p.Asn3206=) c.5802C>T (p.Asn1934=) c.5355C>T (p.Asn1785=) c.4692C>T (p.Asn1564=) c.9207C>T (p.Asn3069=) | gnomAD v4 |
5 | g.13753500G>C | CA359192192 | DNAH5 | c.10605C>G (p.Asn3535Lys) c.10560C>G (p.Asn3520Lys) c.10713C>G (p.Asn3571Lys) c.9618C>G (p.Asn3206Lys) c.5802C>G (p.Asn1934Lys) c.5355C>G (p.Asn1785Lys) c.4692C>G (p.Asn1564Lys) c.9207C>G (p.Asn3069Lys) | |
5 | g.13753500G>T | CA359192193 | DNAH5 | c.10605C>A (p.Asn3535Lys) c.10560C>A (p.Asn3520Lys) c.10713C>A (p.Asn3571Lys) c.9618C>A (p.Asn3206Lys) c.5802C>A (p.Asn1934Lys) c.5355C>A (p.Asn1785Lys) c.4692C>A (p.Asn1564Lys) c.9207C>A (p.Asn3069Lys) | |
5 | g.13753501T>A | CA359192199 | DNAH5 | c.10604A>T (p.Asn3535Ile) c.10559A>T (p.Asn3520Ile) c.10712A>T (p.Asn3571Ile) c.9617A>T (p.Asn3206Ile) c.5801A>T (p.Asn1934Ile) c.5354A>T (p.Asn1785Ile) c.4691A>T (p.Asn1564Ile) c.9206A>T (p.Asn3069Ile) | |
5 | g.13753501T>C | CA359192197 | DNAH5 | c.10604A>G (p.Asn3535Ser) c.10559A>G (p.Asn3520Ser) c.10712A>G (p.Asn3571Ser) c.9617A>G (p.Asn3206Ser) c.5801A>G (p.Asn1934Ser) c.5354A>G (p.Asn1785Ser) c.4691A>G (p.Asn1564Ser) c.9206A>G (p.Asn3069Ser) | |
5 | g.13753501T>G | CA359192195 | DNAH5 | c.10604A>C (p.Asn3535Thr) c.10559A>C (p.Asn3520Thr) c.10712A>C (p.Asn3571Thr) c.9617A>C (p.Asn3206Thr) c.5801A>C (p.Asn1934Thr) c.5354A>C (p.Asn1785Thr) c.4691A>C (p.Asn1564Thr) c.9206A>C (p.Asn3069Thr) | |
5 | g.13753502T>A | CA359192201 | DNAH5 | c.10603A>T (p.Asn3535Tyr) c.10558A>T (p.Asn3520Tyr) c.10711A>T (p.Asn3571Tyr) c.9616A>T (p.Asn3206Tyr) c.5800A>T (p.Asn1934Tyr) c.5353A>T (p.Asn1785Tyr) c.4690A>T (p.Asn1564Tyr) c.9205A>T (p.Asn3069Tyr) | |
5 | g.13753502T>C | CA359192204 | DNAH5 | c.10603A>G (p.Asn3535Asp) c.10558A>G (p.Asn3520Asp) c.10711A>G (p.Asn3571Asp) c.9616A>G (p.Asn3206Asp) c.5800A>G (p.Asn1934Asp) c.5353A>G (p.Asn1785Asp) c.4690A>G (p.Asn1564Asp) c.9205A>G (p.Asn3069Asp) | |
5 | g.13753502T>G | CA359192202 | DNAH5 | c.10603A>C (p.Asn3535His) c.10558A>C (p.Asn3520His) c.10711A>C (p.Asn3571His) c.9616A>C (p.Asn3206His) c.5800A>C (p.Asn1934His) c.5353A>C (p.Asn1785His) c.4690A>C (p.Asn1564His) c.9205A>C (p.Asn3069His) | |
5 | g.13753503A>C | CA359192206 | DNAH5 | c.10602T>G (p.Phe3534Leu) c.10557T>G (p.Phe3519Leu) c.10710T>G (p.Phe3570Leu) c.9615T>G (p.Phe3205Leu) c.5799T>G (p.Phe1933Leu) c.5352T>G (p.Phe1784Leu) c.4689T>G (p.Phe1563Leu) c.9204T>G (p.Phe3068Leu) | |
5 | g.13753503A>G | CA443535983 | DNAH5 | c.10602T>C (p.Phe3534=) c.10557T>C (p.Phe3519=) c.10710T>C (p.Phe3570=) c.9615T>C (p.Phe3205=) c.5799T>C (p.Phe1933=) c.5352T>C (p.Phe1784=) c.4689T>C (p.Phe1563=) c.9204T>C (p.Phe3068=) | |
5 | g.13753503A>T | CA359192208 | DNAH5 | c.10602T>A (p.Phe3534Leu) c.10557T>A (p.Phe3519Leu) c.10710T>A (p.Phe3570Leu) c.9615T>A (p.Phe3205Leu) c.5799T>A (p.Phe1933Leu) c.5352T>A (p.Phe1784Leu) c.4689T>A (p.Phe1563Leu) c.9204T>A (p.Phe3068Leu) | |
5 | g.13753504A>C | CA359192210 | DNAH5 | c.10601T>G (p.Phe3534Cys) c.10556T>G (p.Phe3519Cys) c.10709T>G (p.Phe3570Cys) c.9614T>G (p.Phe3205Cys) c.5798T>G (p.Phe1933Cys) c.5351T>G (p.Phe1784Cys) c.4688T>G (p.Phe1563Cys) c.9203T>G (p.Phe3068Cys) | |
5 | g.13753504A>G | CA359192211 | DNAH5 | c.10601T>C (p.Phe3534Ser) c.10556T>C (p.Phe3519Ser) c.10709T>C (p.Phe3570Ser) c.9614T>C (p.Phe3205Ser) c.5798T>C (p.Phe1933Ser) c.5351T>C (p.Phe1784Ser) c.4688T>C (p.Phe1563Ser) c.9203T>C (p.Phe3068Ser) | |
5 | g.13753504A>T | CA359192213 | DNAH5 | c.10601T>A (p.Phe3534Tyr) c.10556T>A (p.Phe3519Tyr) c.10709T>A (p.Phe3570Tyr) c.9614T>A (p.Phe3205Tyr) c.5798T>A (p.Phe1933Tyr) c.5351T>A (p.Phe1784Tyr) c.4688T>A (p.Phe1563Tyr) c.9203T>A (p.Phe3068Tyr) | |
5 | g.13753505A>C | CA359192215 | DNAH5 | c.10600T>G (p.Phe3534Val) c.10555T>G (p.Phe3519Val) c.10708T>G (p.Phe3570Val) c.9613T>G (p.Phe3205Val) c.5797T>G (p.Phe1933Val) c.5350T>G (p.Phe1784Val) c.4687T>G (p.Phe1563Val) c.9202T>G (p.Phe3068Val) | |
5 | g.13753505A>G | CA359192216 | DNAH5 | c.10600T>C (p.Phe3534Leu) c.10555T>C (p.Phe3519Leu) c.10708T>C (p.Phe3570Leu) c.9613T>C (p.Phe3205Leu) c.5797T>C (p.Phe1933Leu) c.5350T>C (p.Phe1784Leu) c.4687T>C (p.Phe1563Leu) c.9202T>C (p.Phe3068Leu) | |
5 | g.13753505A>T | CA359192218 | DNAH5 | c.10600T>A (p.Phe3534Ile) c.10555T>A (p.Phe3519Ile) c.10708T>A (p.Phe3570Ile) c.9613T>A (p.Phe3205Ile) c.5797T>A (p.Phe1933Ile) c.5350T>A (p.Phe1784Ile) c.4687T>A (p.Phe1563Ile) c.9202T>A (p.Phe3068Ile) | |
5 | g.13753506T>A | CA443535987 | DNAH5 | c.10599A>T (p.Pro3533=) c.10554A>T (p.Pro3518=) c.10707A>T (p.Pro3569=) c.9612A>T (p.Pro3204=) c.5796A>T (p.Pro1932=) c.5349A>T (p.Pro1783=) c.4686A>T (p.Pro1562=) c.9201A>T (p.Pro3067=) | |
5 | g.13753506T>C | CA113919126 | DNAH5 | c.10599A>G (p.Pro3533=) c.10554A>G (p.Pro3518=) c.10707A>G (p.Pro3569=) c.9612A>G (p.Pro3204=) c.5796A>G (p.Pro1932=) c.5349A>G (p.Pro1783=) c.4686A>G (p.Pro1562=) c.9201A>G (p.Pro3067=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753506T>G | CA443535988 | DNAH5 | c.10599A>C (p.Pro3533=) c.10554A>C (p.Pro3518=) c.10707A>C (p.Pro3569=) c.9612A>C (p.Pro3204=) c.5796A>C (p.Pro1932=) c.5349A>C (p.Pro1783=) c.4686A>C (p.Pro1562=) c.9201A>C (p.Pro3067=) | |
5 | g.13753506T= | CA1528423540 | DNAH5 | c.10599A= (p.Pro3533=) c.10554A= (p.Pro3518=) c.10707A= (p.Pro3569=) c.9612A= (p.Pro3204=) c.5796A= (p.Pro1932=) c.5349A= (p.Pro1783=) c.4686A= (p.Pro1562=) c.9201A= (p.Pro3067=) | |
5 | g.13753507G>A | CA359192220 | DNAH5 | c.10598C>T (p.Pro3533Leu) c.10553C>T (p.Pro3518Leu) c.10706C>T (p.Pro3569Leu) c.9611C>T (p.Pro3204Leu) c.5795C>T (p.Pro1932Leu) c.5348C>T (p.Pro1783Leu) c.4685C>T (p.Pro1562Leu) c.9200C>T (p.Pro3067Leu) | COSMIC |
5 | g.13753507G>C | CA359192222 | DNAH5 | c.10598C>G (p.Pro3533Arg) c.10553C>G (p.Pro3518Arg) c.10706C>G (p.Pro3569Arg) c.9611C>G (p.Pro3204Arg) c.5795C>G (p.Pro1932Arg) c.5348C>G (p.Pro1783Arg) c.4685C>G (p.Pro1562Arg) c.9200C>G (p.Pro3067Arg) | gnomAD v4 |
5 | g.13753507G>T | CA359192223 | DNAH5 | c.10598C>A (p.Pro3533Gln) c.10553C>A (p.Pro3518Gln) c.10706C>A (p.Pro3569Gln) c.9611C>A (p.Pro3204Gln) c.5795C>A (p.Pro1932Gln) c.5348C>A (p.Pro1783Gln) c.4685C>A (p.Pro1562Gln) c.9200C>A (p.Pro3067Gln) | |
5 | g.13753508G>A | CA359192228 | DNAH5 | c.10597C>T (p.Pro3533Ser) c.10552C>T (p.Pro3518Ser) c.10705C>T (p.Pro3569Ser) c.9610C>T (p.Pro3204Ser) c.5794C>T (p.Pro1932Ser) c.5347C>T (p.Pro1783Ser) c.4684C>T (p.Pro1562Ser) c.9199C>T (p.Pro3067Ser) | |
5 | g.13753508G>C | CA359192227 | DNAH5 | c.10597C>G (p.Pro3533Ala) c.10552C>G (p.Pro3518Ala) c.10705C>G (p.Pro3569Ala) c.9610C>G (p.Pro3204Ala) c.5794C>G (p.Pro1932Ala) c.5347C>G (p.Pro1783Ala) c.4684C>G (p.Pro1562Ala) c.9199C>G (p.Pro3067Ala) | gnomAD v4 |
5 | g.13753508G>T | CA359192225 | DNAH5 | c.10597C>A (p.Pro3533Thr) c.10552C>A (p.Pro3518Thr) c.10705C>A (p.Pro3569Thr) c.9610C>A (p.Pro3204Thr) c.5794C>A (p.Pro1932Thr) c.5347C>A (p.Pro1783Thr) c.4684C>A (p.Pro1562Thr) c.9199C>A (p.Pro3067Thr) | |
5 | g.13753509A= | CA1528423541 | DNAH5 | c.10596T= (p.Gly3532=) c.10551T= (p.Gly3517=) c.10704T= (p.Gly3568=) c.9609T= (p.Gly3203=) c.5793T= (p.Gly1931=) c.5346T= (p.Gly1782=) c.4683T= (p.Gly1561=) c.9198T= (p.Gly3066=) | |
5 | g.13753509A>C | CA443535992 | DNAH5 | c.10596T>G (p.Gly3532=) c.10551T>G (p.Gly3517=) c.10704T>G (p.Gly3568=) c.9609T>G (p.Gly3203=) c.5793T>G (p.Gly1931=) c.5346T>G (p.Gly1782=) c.4683T>G (p.Gly1561=) c.9198T>G (p.Gly3066=) | |
5 | g.13753509A>G | CA443535996 | DNAH5 | c.10596T>C (p.Gly3532=) c.10551T>C (p.Gly3517=) c.10704T>C (p.Gly3568=) c.9609T>C (p.Gly3203=) c.5793T>C (p.Gly1931=) c.5346T>C (p.Gly1782=) c.4683T>C (p.Gly1561=) c.9198T>C (p.Gly3066=) | dbSNP gnomAD v2 |
5 | g.13753509A>T | CA443535994 | DNAH5 | c.10596T>A (p.Gly3532=) c.10551T>A (p.Gly3517=) c.10704T>A (p.Gly3568=) c.9609T>A (p.Gly3203=) c.5793T>A (p.Gly1931=) c.5346T>A (p.Gly1782=) c.4683T>A (p.Gly1561=) c.9198T>A (p.Gly3066=) | |
5 | g.13753510C>A | CA359192229 | DNAH5 | c.10595G>T (p.Gly3532Val) c.10550G>T (p.Gly3517Val) c.10703G>T (p.Gly3568Val) c.9608G>T (p.Gly3203Val) c.5792G>T (p.Gly1931Val) c.5345G>T (p.Gly1782Val) c.4682G>T (p.Gly1561Val) c.9197G>T (p.Gly3066Val) | |
5 | g.13753510C>G | CA359192230 | DNAH5 | c.10595G>C (p.Gly3532Ala) c.10550G>C (p.Gly3517Ala) c.10703G>C (p.Gly3568Ala) c.9608G>C (p.Gly3203Ala) c.5792G>C (p.Gly1931Ala) c.5345G>C (p.Gly1782Ala) c.4682G>C (p.Gly1561Ala) c.9197G>C (p.Gly3066Ala) | |
5 | g.13753510C>T | CA359192232 | DNAH5 | c.10595G>A (p.Gly3532Asp) c.10550G>A (p.Gly3517Asp) c.10703G>A (p.Gly3568Asp) c.9608G>A (p.Gly3203Asp) c.5792G>A (p.Gly1931Asp) c.5345G>A (p.Gly1782Asp) c.4682G>A (p.Gly1561Asp) c.9197G>A (p.Gly3066Asp) | gnomAD v4 |