Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13753367C>A | CA359191496 | DNAH5 | c.10738G>T (p.Gly3580Cys) c.10693G>T (p.Gly3565Cys) c.10846G>T (p.Gly3616Cys) c.9751G>T (p.Gly3251Cys) c.5935G>T (p.Gly1979Cys) c.5488G>T (p.Gly1830Cys) c.4825G>T (p.Gly1609Cys) c.9340G>T (p.Gly3114Cys) | |
5 | g.13753367C= | CA1528423485 | DNAH5 | c.10738G= (p.Gly3580=) c.10693G= (p.Gly3565=) c.10846G= (p.Gly3616=) c.9751G= (p.Gly3251=) c.5935G= (p.Gly1979=) c.5488G= (p.Gly1830=) c.4825G= (p.Gly1609=) c.9340G= (p.Gly3114=) | |
5 | g.13753367C>G | CA359191498 | DNAH5 | c.10738G>C (p.Gly3580Arg) c.10693G>C (p.Gly3565Arg) c.10846G>C (p.Gly3616Arg) c.9751G>C (p.Gly3251Arg) c.5935G>C (p.Gly1979Arg) c.5488G>C (p.Gly1830Arg) c.4825G>C (p.Gly1609Arg) c.9340G>C (p.Gly3114Arg) | |
5 | g.13753367C>T | CA10620200 | DNAH5 | c.10738G>A (p.Gly3580Ser) c.10693G>A (p.Gly3565Ser) c.10846G>A (p.Gly3616Ser) c.9751G>A (p.Gly3251Ser) c.5935G>A (p.Gly1979Ser) c.5488G>A (p.Gly1830Ser) c.4825G>A (p.Gly1609Ser) c.9340G>A (p.Gly3114Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753368T>A | CA359191500 | DNAH5 | c.10737A>T (p.Gln3579His) c.10692A>T (p.Gln3564His) c.10845A>T (p.Gln3615His) c.9750A>T (p.Gln3250His) c.5934A>T (p.Gln1978His) c.5487A>T (p.Gln1829His) c.4824A>T (p.Gln1608His) c.9339A>T (p.Gln3113His) | |
5 | g.13753368T>C | CA443535565 | DNAH5 | c.10737A>G (p.Gln3579=) c.10692A>G (p.Gln3564=) c.10845A>G (p.Gln3615=) c.9750A>G (p.Gln3250=) c.5934A>G (p.Gln1978=) c.5487A>G (p.Gln1829=) c.4824A>G (p.Gln1608=) c.9339A>G (p.Gln3113=) | |
5 | g.13753368T>G | CA359191501 | DNAH5 | c.10737A>C (p.Gln3579His) c.10692A>C (p.Gln3564His) c.10845A>C (p.Gln3615His) c.9750A>C (p.Gln3250His) c.5934A>C (p.Gln1978His) c.5487A>C (p.Gln1829His) c.4824A>C (p.Gln1608His) c.9339A>C (p.Gln3113His) | |
5 | g.13753369T>A | CA359191502 | DNAH5 | c.10736A>T (p.Gln3579Leu) c.10691A>T (p.Gln3564Leu) c.10844A>T (p.Gln3615Leu) c.9749A>T (p.Gln3250Leu) c.5933A>T (p.Gln1978Leu) c.5486A>T (p.Gln1829Leu) c.4823A>T (p.Gln1608Leu) c.9338A>T (p.Gln3113Leu) | |
5 | g.13753369T>C | CA359191504 | DNAH5 | c.10736A>G (p.Gln3579Arg) c.10691A>G (p.Gln3564Arg) c.10844A>G (p.Gln3615Arg) c.9749A>G (p.Gln3250Arg) c.5933A>G (p.Gln1978Arg) c.5486A>G (p.Gln1829Arg) c.4823A>G (p.Gln1608Arg) c.9338A>G (p.Gln3113Arg) | |
5 | g.13753369T>G | CA359191506 | DNAH5 | c.10736A>C (p.Gln3579Pro) c.10691A>C (p.Gln3564Pro) c.10844A>C (p.Gln3615Pro) c.9749A>C (p.Gln3250Pro) c.5933A>C (p.Gln1978Pro) c.5486A>C (p.Gln1829Pro) c.4823A>C (p.Gln1608Pro) c.9338A>C (p.Gln3113Pro) | gnomAD v4 |
5 | g.13753370G>A | CA359191512 | DNAH5 | c.10735C>T (p.Gln3579Ter) c.10690C>T (p.Gln3564Ter) c.10843C>T (p.Gln3615Ter) c.9748C>T (p.Gln3250Ter) c.5932C>T (p.Gln1978Ter) c.5485C>T (p.Gln1829Ter) c.4822C>T (p.Gln1608Ter) c.9337C>T (p.Gln3113Ter) | ClinVar |
5 | g.13753370G>C | CA359191514 | DNAH5 | c.10735C>G (p.Gln3579Glu) c.10690C>G (p.Gln3564Glu) c.10843C>G (p.Gln3615Glu) c.9748C>G (p.Gln3250Glu) c.5932C>G (p.Gln1978Glu) c.5485C>G (p.Gln1829Glu) c.4822C>G (p.Gln1608Glu) c.9337C>G (p.Gln3113Glu) | |
5 | g.13753370G>T | CA359191515 | DNAH5 | c.10735C>A (p.Gln3579Lys) c.10690C>A (p.Gln3564Lys) c.10843C>A (p.Gln3615Lys) c.9748C>A (p.Gln3250Lys) c.5932C>A (p.Gln1978Lys) c.5485C>A (p.Gln1829Lys) c.4822C>A (p.Gln1608Lys) c.9337C>A (p.Gln3113Lys) | |
5 | g.13753371G>A | CA443535567 | DNAH5 | c.10734C>T (p.Leu3578=) c.10689C>T (p.Leu3563=) c.10842C>T (p.Leu3614=) c.9747C>T (p.Leu3249=) c.5931C>T (p.Leu1977=) c.5484C>T (p.Leu1828=) c.4821C>T (p.Leu1607=) c.9336C>T (p.Leu3112=) | dbSNP |
5 | g.13753371G>C | CA443535569 | DNAH5 | c.10734C>G (p.Leu3578=) c.10689C>G (p.Leu3563=) c.10842C>G (p.Leu3614=) c.9747C>G (p.Leu3249=) c.5931C>G (p.Leu1977=) c.5484C>G (p.Leu1828=) c.4821C>G (p.Leu1607=) c.9336C>G (p.Leu3112=) | |
5 | g.13753371G= | CA1528423486 | DNAH5 | c.10734C= (p.Leu3578=) c.10689C= (p.Leu3563=) c.10842C= (p.Leu3614=) c.9747C= (p.Leu3249=) c.5931C= (p.Leu1977=) c.5484C= (p.Leu1828=) c.4821C= (p.Leu1607=) c.9336C= (p.Leu3112=) | |
5 | g.13753371G>T | CA443535568 | DNAH5 | c.10734C>A (p.Leu3578=) c.10689C>A (p.Leu3563=) c.10842C>A (p.Leu3614=) c.9747C>A (p.Leu3249=) c.5931C>A (p.Leu1977=) c.5484C>A (p.Leu1828=) c.4821C>A (p.Leu1607=) c.9336C>A (p.Leu3112=) | |
5 | g.13753372A>C | CA359191517 | DNAH5 | c.10733T>G (p.Leu3578Arg) c.10688T>G (p.Leu3563Arg) c.10841T>G (p.Leu3614Arg) c.9746T>G (p.Leu3249Arg) c.5930T>G (p.Leu1977Arg) c.5483T>G (p.Leu1828Arg) c.4820T>G (p.Leu1607Arg) c.9335T>G (p.Leu3112Arg) | |
5 | g.13753372A>G | CA359191519 | DNAH5 | c.10733T>C (p.Leu3578Pro) c.10688T>C (p.Leu3563Pro) c.10841T>C (p.Leu3614Pro) c.9746T>C (p.Leu3249Pro) c.5930T>C (p.Leu1977Pro) c.5483T>C (p.Leu1828Pro) c.4820T>C (p.Leu1607Pro) c.9335T>C (p.Leu3112Pro) | |
5 | g.13753372A>T | CA359191521 | DNAH5 | c.10733T>A (p.Leu3578His) c.10688T>A (p.Leu3563His) c.10841T>A (p.Leu3614His) c.9746T>A (p.Leu3249His) c.5930T>A (p.Leu1977His) c.5483T>A (p.Leu1828His) c.4820T>A (p.Leu1607His) c.9335T>A (p.Leu3112His) | |
5 | g.13753373G>A | CA359191525 | DNAH5 | c.10732C>T (p.Leu3578Phe) c.10687C>T (p.Leu3563Phe) c.10840C>T (p.Leu3614Phe) c.9745C>T (p.Leu3249Phe) c.5929C>T (p.Leu1977Phe) c.5482C>T (p.Leu1828Phe) c.4819C>T (p.Leu1607Phe) c.9334C>T (p.Leu3112Phe) | dbSNP gnomAD v4 |
5 | g.13753373G>C | CA359191526 | DNAH5 | c.10732C>G (p.Leu3578Val) c.10687C>G (p.Leu3563Val) c.10840C>G (p.Leu3614Val) c.9745C>G (p.Leu3249Val) c.5929C>G (p.Leu1977Val) c.5482C>G (p.Leu1828Val) c.4819C>G (p.Leu1607Val) c.9334C>G (p.Leu3112Val) | |
5 | g.13753373G= | CA1528423487 | DNAH5 | c.10732C= (p.Leu3578=) c.10687C= (p.Leu3563=) c.10840C= (p.Leu3614=) c.9745C= (p.Leu3249=) c.5929C= (p.Leu1977=) c.5482C= (p.Leu1828=) c.4819C= (p.Leu1607=) c.9334C= (p.Leu3112=) | |
5 | g.13753373G>T | CA359191523 | DNAH5 | c.10732C>A (p.Leu3578Ile) c.10687C>A (p.Leu3563Ile) c.10840C>A (p.Leu3614Ile) c.9745C>A (p.Leu3249Ile) c.5929C>A (p.Leu1977Ile) c.5482C>A (p.Leu1828Ile) c.4819C>A (p.Leu1607Ile) c.9334C>A (p.Leu3112Ile) | |
5 | g.13753374G>A | CA443535572 | DNAH5 | c.10731C>T (p.Asn3577=) c.10686C>T (p.Asn3562=) c.10839C>T (p.Asn3613=) c.9744C>T (p.Asn3248=) c.5928C>T (p.Asn1976=) c.5481C>T (p.Asn1827=) c.4818C>T (p.Asn1606=) c.9333C>T (p.Asn3111=) | |
5 | g.13753374G>C | CA3202146 | DNAH5 | c.10731C>G (p.Asn3577Lys) c.10686C>G (p.Asn3562Lys) c.10839C>G (p.Asn3613Lys) c.9744C>G (p.Asn3248Lys) c.5928C>G (p.Asn1976Lys) c.5481C>G (p.Asn1827Lys) c.4818C>G (p.Asn1606Lys) c.9333C>G (p.Asn3111Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753374G= | CA1528423488 | DNAH5 | c.10731C= (p.Asn3577=) c.10686C= (p.Asn3562=) c.10839C= (p.Asn3613=) c.9744C= (p.Asn3248=) c.5928C= (p.Asn1976=) c.5481C= (p.Asn1827=) c.4818C= (p.Asn1606=) c.9333C= (p.Asn3111=) | |
5 | g.13753374G>T | CA10622661 | DNAH5 | c.10731C>A (p.Asn3577Lys) c.10686C>A (p.Asn3562Lys) c.10839C>A (p.Asn3613Lys) c.9744C>A (p.Asn3248Lys) c.5928C>A (p.Asn1976Lys) c.5481C>A (p.Asn1827Lys) c.4818C>A (p.Asn1606Lys) c.9333C>A (p.Asn3111Lys) | ClinVar dbSNP gnomAD v4 |
5 | g.13753375T>A | CA359191530 | DNAH5 | c.10730A>T (p.Asn3577Ile) c.10685A>T (p.Asn3562Ile) c.10838A>T (p.Asn3613Ile) c.9743A>T (p.Asn3248Ile) c.5927A>T (p.Asn1976Ile) c.5480A>T (p.Asn1827Ile) c.4817A>T (p.Asn1606Ile) c.9332A>T (p.Asn3111Ile) | |
5 | g.13753375T>C | CA359191528 | DNAH5 | c.10730A>G (p.Asn3577Ser) c.10685A>G (p.Asn3562Ser) c.10838A>G (p.Asn3613Ser) c.9743A>G (p.Asn3248Ser) c.5927A>G (p.Asn1976Ser) c.5480A>G (p.Asn1827Ser) c.4817A>G (p.Asn1606Ser) c.9332A>G (p.Asn3111Ser) | |
5 | g.13753375T>G | CA359191531 | DNAH5 | c.10730A>C (p.Asn3577Thr) c.10685A>C (p.Asn3562Thr) c.10838A>C (p.Asn3613Thr) c.9743A>C (p.Asn3248Thr) c.5927A>C (p.Asn1976Thr) c.5480A>C (p.Asn1827Thr) c.4817A>C (p.Asn1606Thr) c.9332A>C (p.Asn3111Thr) | |
5 | g.13753376T>A | CA359191532 | DNAH5 | c.10729A>T (p.Asn3577Tyr) c.10684A>T (p.Asn3562Tyr) c.10837A>T (p.Asn3613Tyr) c.9742A>T (p.Asn3248Tyr) c.5926A>T (p.Asn1976Tyr) c.5479A>T (p.Asn1827Tyr) c.4816A>T (p.Asn1606Tyr) c.9331A>T (p.Asn3111Tyr) | |
5 | g.13753376T>C | CA359191534 | DNAH5 | c.10729A>G (p.Asn3577Asp) c.10684A>G (p.Asn3562Asp) c.10837A>G (p.Asn3613Asp) c.9742A>G (p.Asn3248Asp) c.5926A>G (p.Asn1976Asp) c.5479A>G (p.Asn1827Asp) c.4816A>G (p.Asn1606Asp) c.9331A>G (p.Asn3111Asp) | |
5 | g.13753376T>G | CA359191535 | DNAH5 | c.10729A>C (p.Asn3577His) c.10684A>C (p.Asn3562His) c.10837A>C (p.Asn3613His) c.9742A>C (p.Asn3248His) c.5926A>C (p.Asn1976His) c.5479A>C (p.Asn1827His) c.4816A>C (p.Asn1606His) c.9331A>C (p.Asn3111His) | |
5 | g.13753377C>A | CA359191537 | DNAH5 | c.10728G>T (p.Trp3576Cys) c.10683G>T (p.Trp3561Cys) c.10836G>T (p.Trp3612Cys) c.9741G>T (p.Trp3247Cys) c.5925G>T (p.Trp1975Cys) c.5478G>T (p.Trp1826Cys) c.4815G>T (p.Trp1605Cys) c.9330G>T (p.Trp3110Cys) | |
5 | g.13753377C>G | CA359191539 | DNAH5 | c.10728G>C (p.Trp3576Cys) c.10683G>C (p.Trp3561Cys) c.10836G>C (p.Trp3612Cys) c.9741G>C (p.Trp3247Cys) c.5925G>C (p.Trp1975Cys) c.5478G>C (p.Trp1826Cys) c.4815G>C (p.Trp1605Cys) c.9330G>C (p.Trp3110Cys) | |
5 | g.13753377C>T | CA359191541 | DNAH5 | c.10728G>A (p.Trp3576Ter) c.10683G>A (p.Trp3561Ter) c.10836G>A (p.Trp3612Ter) c.9741G>A (p.Trp3247Ter) c.5925G>A (p.Trp1975Ter) c.5478G>A (p.Trp1826Ter) c.4815G>A (p.Trp1605Ter) c.9330G>A (p.Trp3110Ter) | |
5 | g.13753378C>A | CA359191546 | DNAH5 | c.10727G>T (p.Trp3576Leu) c.10682G>T (p.Trp3561Leu) c.10835G>T (p.Trp3612Leu) c.9740G>T (p.Trp3247Leu) c.5924G>T (p.Trp1975Leu) c.5477G>T (p.Trp1826Leu) c.4814G>T (p.Trp1605Leu) c.9329G>T (p.Trp3110Leu) | |
5 | g.13753378C>G | CA359191543 | DNAH5 | c.10727G>C (p.Trp3576Ser) c.10682G>C (p.Trp3561Ser) c.10835G>C (p.Trp3612Ser) c.9740G>C (p.Trp3247Ser) c.5924G>C (p.Trp1975Ser) c.5477G>C (p.Trp1826Ser) c.4814G>C (p.Trp1605Ser) c.9329G>C (p.Trp3110Ser) | |
5 | g.13753378C>T | CA359191544 | DNAH5 | c.10727G>A (p.Trp3576Ter) c.10682G>A (p.Trp3561Ter) c.10835G>A (p.Trp3612Ter) c.9740G>A (p.Trp3247Ter) c.5924G>A (p.Trp1975Ter) c.5477G>A (p.Trp1826Ter) c.4814G>A (p.Trp1605Ter) c.9329G>A (p.Trp3110Ter) | |
5 | g.13753379A>C | CA359191548 | DNAH5 | c.10726T>G (p.Trp3576Gly) c.10681T>G (p.Trp3561Gly) c.10834T>G (p.Trp3612Gly) c.9739T>G (p.Trp3247Gly) c.5923T>G (p.Trp1975Gly) c.5476T>G (p.Trp1826Gly) c.4813T>G (p.Trp1605Gly) c.9328T>G (p.Trp3110Gly) | |
5 | g.13753379A>G | CA359191549 | DNAH5 | c.10726T>C (p.Trp3576Arg) c.10681T>C (p.Trp3561Arg) c.10834T>C (p.Trp3612Arg) c.9739T>C (p.Trp3247Arg) c.5923T>C (p.Trp1975Arg) c.5476T>C (p.Trp1826Arg) c.4813T>C (p.Trp1605Arg) c.9328T>C (p.Trp3110Arg) | |
5 | g.13753379A>T | CA359191550 | DNAH5 | c.10726T>A (p.Trp3576Arg) c.10681T>A (p.Trp3561Arg) c.10834T>A (p.Trp3612Arg) c.9739T>A (p.Trp3247Arg) c.5923T>A (p.Trp1975Arg) c.5476T>A (p.Trp1826Arg) c.4813T>A (p.Trp1605Arg) c.9328T>A (p.Trp3110Arg) | |
5 | g.13753380T>A | CA359191551 | DNAH5 | c.10725A>T (p.Glu3575Asp) c.10680A>T (p.Glu3560Asp) c.10833A>T (p.Glu3611Asp) c.9738A>T (p.Glu3246Asp) c.5922A>T (p.Glu1974Asp) c.5475A>T (p.Glu1825Asp) c.4812A>T (p.Glu1604Asp) c.9327A>T (p.Glu3109Asp) | |
5 | g.13753380T>C | CA443535578 | DNAH5 | c.10725A>G (p.Glu3575=) c.10680A>G (p.Glu3560=) c.10833A>G (p.Glu3611=) c.9738A>G (p.Glu3246=) c.5922A>G (p.Glu1974=) c.5475A>G (p.Glu1825=) c.4812A>G (p.Glu1604=) c.9327A>G (p.Glu3109=) | |
5 | g.13753380T>G | CA359191553 | DNAH5 | c.10725A>C (p.Glu3575Asp) c.10680A>C (p.Glu3560Asp) c.10833A>C (p.Glu3611Asp) c.9738A>C (p.Glu3246Asp) c.5922A>C (p.Glu1974Asp) c.5475A>C (p.Glu1825Asp) c.4812A>C (p.Glu1604Asp) c.9327A>C (p.Glu3109Asp) | |
5 | g.13753381T>A | CA359191555 | DNAH5 | c.10724A>T (p.Glu3575Val) c.10679A>T (p.Glu3560Val) c.10832A>T (p.Glu3611Val) c.9737A>T (p.Glu3246Val) c.5921A>T (p.Glu1974Val) c.5474A>T (p.Glu1825Val) c.4811A>T (p.Glu1604Val) c.9326A>T (p.Glu3109Val) | |
5 | g.13753381T>C | CA359191557 | DNAH5 | c.10724A>G (p.Glu3575Gly) c.10679A>G (p.Glu3560Gly) c.10832A>G (p.Glu3611Gly) c.9737A>G (p.Glu3246Gly) c.5921A>G (p.Glu1974Gly) c.5474A>G (p.Glu1825Gly) c.4811A>G (p.Glu1604Gly) c.9326A>G (p.Glu3109Gly) | |
5 | g.13753381T>G | CA3202147 | DNAH5 | c.10724A>C (p.Glu3575Ala) c.10679A>C (p.Glu3560Ala) c.10832A>C (p.Glu3611Ala) c.9737A>C (p.Glu3246Ala) c.5921A>C (p.Glu1974Ala) c.5474A>C (p.Glu1825Ala) c.4811A>C (p.Glu1604Ala) c.9326A>C (p.Glu3109Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753381T= | CA1528423489 | DNAH5 | c.10724A= (p.Glu3575=) c.10679A= (p.Glu3560=) c.10832A= (p.Glu3611=) c.9737A= (p.Glu3246=) c.5921A= (p.Glu1974=) c.5474A= (p.Glu1825=) c.4811A= (p.Glu1604=) c.9326A= (p.Glu3109=) | |
5 | g.13753382C>A | CA359191559 | DNAH5 | c.10723G>T (p.Glu3575Ter) c.10678G>T (p.Glu3560Ter) c.10831G>T (p.Glu3611Ter) c.9736G>T (p.Glu3246Ter) c.5920G>T (p.Glu1974Ter) c.5473G>T (p.Glu1825Ter) c.4810G>T (p.Glu1604Ter) c.9325G>T (p.Glu3109Ter) | |
5 | g.13753382C>G | CA359191561 | DNAH5 | c.10723G>C (p.Glu3575Gln) c.10678G>C (p.Glu3560Gln) c.10831G>C (p.Glu3611Gln) c.9736G>C (p.Glu3246Gln) c.5920G>C (p.Glu1974Gln) c.5473G>C (p.Glu1825Gln) c.4810G>C (p.Glu1604Gln) c.9325G>C (p.Glu3109Gln) | |
5 | g.13753382C>T | CA359191563 | DNAH5 | c.10723G>A (p.Glu3575Lys) c.10678G>A (p.Glu3560Lys) c.10831G>A (p.Glu3611Lys) c.9736G>A (p.Glu3246Lys) c.5920G>A (p.Glu1974Lys) c.5473G>A (p.Glu1825Lys) c.4810G>A (p.Glu1604Lys) c.9325G>A (p.Glu3109Lys) | |
5 | g.13753383A>C | CA359191565 | DNAH5 | c.10722T>G (p.Ser3574Arg) c.10677T>G (p.Ser3559Arg) c.10830T>G (p.Ser3610Arg) c.9735T>G (p.Ser3245Arg) c.5919T>G (p.Ser1973Arg) c.5472T>G (p.Ser1824Arg) c.4809T>G (p.Ser1603Arg) c.9324T>G (p.Ser3108Arg) | |
5 | g.13753383A>G | CA443535580 | DNAH5 | c.10722T>C (p.Ser3574=) c.10677T>C (p.Ser3559=) c.10830T>C (p.Ser3610=) c.9735T>C (p.Ser3245=) c.5919T>C (p.Ser1973=) c.5472T>C (p.Ser1824=) c.4809T>C (p.Ser1603=) c.9324T>C (p.Ser3108=) | |
5 | g.13753383A>T | CA359191566 | DNAH5 | c.10722T>A (p.Ser3574Arg) c.10677T>A (p.Ser3559Arg) c.10830T>A (p.Ser3610Arg) c.9735T>A (p.Ser3245Arg) c.5919T>A (p.Ser1973Arg) c.5472T>A (p.Ser1824Arg) c.4809T>A (p.Ser1603Arg) c.9324T>A (p.Ser3108Arg) | gnomAD v4 |
5 | g.13753384C>A | CA359191568 | DNAH5 | c.10721G>T (p.Ser3574Ile) c.10676G>T (p.Ser3559Ile) c.10829G>T (p.Ser3610Ile) c.9734G>T (p.Ser3245Ile) c.5918G>T (p.Ser1973Ile) c.5471G>T (p.Ser1824Ile) c.4808G>T (p.Ser1603Ile) c.9323G>T (p.Ser3108Ile) | |
5 | g.13753384C>G | CA359191569 | DNAH5 | c.10721G>C (p.Ser3574Thr) c.10676G>C (p.Ser3559Thr) c.10829G>C (p.Ser3610Thr) c.9734G>C (p.Ser3245Thr) c.5918G>C (p.Ser1973Thr) c.5471G>C (p.Ser1824Thr) c.4808G>C (p.Ser1603Thr) c.9323G>C (p.Ser3108Thr) | |
5 | g.13753384C>T | CA359191571 | DNAH5 | c.10721G>A (p.Ser3574Asn) c.10676G>A (p.Ser3559Asn) c.10829G>A (p.Ser3610Asn) c.9734G>A (p.Ser3245Asn) c.5918G>A (p.Ser1973Asn) c.5471G>A (p.Ser1824Asn) c.4808G>A (p.Ser1603Asn) c.9323G>A (p.Ser3108Asn) | |
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.13753385T>A | CA359191573 | DNAH5 | c.10720A>T (p.Ser3574Cys) c.10675A>T (p.Ser3559Cys) c.10828A>T (p.Ser3610Cys) c.9733A>T (p.Ser3245Cys) c.5917A>T (p.Ser1973Cys) c.5470A>T (p.Ser1824Cys) c.4807A>T (p.Ser1603Cys) c.9322A>T (p.Ser3108Cys) | |
5 | g.13753385T>C | CA3202148 | DNAH5 | c.10720A>G (p.Ser3574Gly) c.10675A>G (p.Ser3559Gly) c.10828A>G (p.Ser3610Gly) c.9733A>G (p.Ser3245Gly) c.5917A>G (p.Ser1973Gly) c.5470A>G (p.Ser1824Gly) c.4807A>G (p.Ser1603Gly) c.9322A>G (p.Ser3108Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13753385T>G | CA359191576 | DNAH5 | c.10720A>C (p.Ser3574Arg) c.10675A>C (p.Ser3559Arg) c.10828A>C (p.Ser3610Arg) c.9733A>C (p.Ser3245Arg) c.5917A>C (p.Ser1973Arg) c.5470A>C (p.Ser1824Arg) c.4807A>C (p.Ser1603Arg) c.9322A>C (p.Ser3108Arg) | |
5 | g.13753385T= | CA1528423491 | DNAH5 | c.10720A= (p.Ser3574=) c.10675A= (p.Ser3559=) c.10828A= (p.Ser3610=) c.9733A= (p.Ser3245=) c.5917A= (p.Ser1973=) c.5470A= (p.Ser1824=) c.4807A= (p.Ser1603=) c.9322A= (p.Ser3108=) | |
5 | g.13753385_13753386delinsTA | CA1528423490 | DNAH5 | c.10719_10720delinsTA (p.Ile3573=) c.10674_10675delinsTA (p.Ile3558=) c.10827_10828delinsTA (p.Ile3609=) c.9732_9733delinsTA (p.Ile3244=) c.5916_5917delinsTA (p.Ile1972=) c.5469_5470delinsTA (p.Ile1823=) c.4806_4807delinsTA (p.Ile1602=) c.9321_9322delinsTA (p.Ile3107=) | |
5 | g.13753386A>C | CA359191579 | DNAH5 | c.10719T>G (p.Ile3573Met) c.10674T>G (p.Ile3558Met) c.10827T>G (p.Ile3609Met) c.9732T>G (p.Ile3244Met) c.5916T>G (p.Ile1972Met) c.5469T>G (p.Ile1823Met) c.4806T>G (p.Ile1602Met) c.9321T>G (p.Ile3107Met) | |
5 | g.13753386A>G | CA443535587 | DNAH5 | c.10719T>C (p.Ile3573=) c.10674T>C (p.Ile3558=) c.10827T>C (p.Ile3609=) c.9732T>C (p.Ile3244=) c.5916T>C (p.Ile1972=) c.5469T>C (p.Ile1823=) c.4806T>C (p.Ile1602=) c.9321T>C (p.Ile3107=) | |
5 | g.13753386A>T | CA443535588 | DNAH5 | c.10719T>A (p.Ile3573=) c.10674T>A (p.Ile3558=) c.10827T>A (p.Ile3609=) c.9732T>A (p.Ile3244=) c.5916T>A (p.Ile1972=) c.5469T>A (p.Ile1823=) c.4806T>A (p.Ile1602=) c.9321T>A (p.Ile3107=) | |
5 | g.13753387del | CA3202149 | DNAH5 | c.10719del (p.Ser3574ValfsTer?) c.10674del (p.Ser3559ValfsTer?) c.10827del (p.Ser3610ValfsTer?) c.9732del (p.Ser3245ValfsTer?) c.5916del (p.Ser1973ValfsTer?) c.5469del (p.Ser1824ValfsTer?) c.4806del (p.Ser1603ValfsTer?) c.9321del (p.Ser3108ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753387A= | CA1528423493 | DNAH5 | c.10718T= (p.Ile3573=) c.10673T= (p.Ile3558=) c.10826T= (p.Ile3609=) c.9731T= (p.Ile3244=) c.5915T= (p.Ile1972=) c.5468T= (p.Ile1823=) c.4805T= (p.Ile1602=) c.9320T= (p.Ile3107=) | |
5 | g.13753387A>C | CA359191581 | DNAH5 | c.10718T>G (p.Ile3573Ser) c.10673T>G (p.Ile3558Ser) c.10826T>G (p.Ile3609Ser) c.9731T>G (p.Ile3244Ser) c.5915T>G (p.Ile1972Ser) c.5468T>G (p.Ile1823Ser) c.4805T>G (p.Ile1602Ser) c.9320T>G (p.Ile3107Ser) | dbSNP |
5 | g.13753387A>G | CA359191584 | DNAH5 | c.10718T>C (p.Ile3573Thr) c.10673T>C (p.Ile3558Thr) c.10826T>C (p.Ile3609Thr) c.9731T>C (p.Ile3244Thr) c.5915T>C (p.Ile1972Thr) c.5468T>C (p.Ile1823Thr) c.4805T>C (p.Ile1602Thr) c.9320T>C (p.Ile3107Thr) | COSMIC |
5 | g.13753387A>T | CA359191590 | DNAH5 | c.10718T>A (p.Ile3573Asn) c.10673T>A (p.Ile3558Asn) c.10826T>A (p.Ile3609Asn) c.9731T>A (p.Ile3244Asn) c.5915T>A (p.Ile1972Asn) c.5468T>A (p.Ile1823Asn) c.4805T>A (p.Ile1602Asn) c.9320T>A (p.Ile3107Asn) | |
5 | g.13753387_13753390delinsATAG | CA1528423492 | DNAH5 | c.10715_10718delinsCTAT (p.Thr3572=) c.10670_10673delinsCTAT (p.Thr3557=) c.10823_10826delinsCTAT (p.Thr3608=) c.9728_9731delinsCTAT (p.Thr3243=) c.5912_5915delinsCTAT (p.Thr1971=) c.5465_5468delinsCTAT (p.Thr1822=) c.4802_4805delinsCTAT (p.Thr1601=) c.9317_9320delinsCTAT (p.Thr3106=) | |
5 | g.13753388T>A | CA359191595 | DNAH5 | c.10717A>T (p.Ile3573Phe) c.10672A>T (p.Ile3558Phe) c.10825A>T (p.Ile3609Phe) c.9730A>T (p.Ile3244Phe) c.5914A>T (p.Ile1972Phe) c.5467A>T (p.Ile1823Phe) c.4804A>T (p.Ile1602Phe) c.9319A>T (p.Ile3107Phe) | |
5 | g.13753388T>C | CA359191598 | DNAH5 | c.10717A>G (p.Ile3573Val) c.10672A>G (p.Ile3558Val) c.10825A>G (p.Ile3609Val) c.9730A>G (p.Ile3244Val) c.5914A>G (p.Ile1972Val) c.5467A>G (p.Ile1823Val) c.4804A>G (p.Ile1602Val) c.9319A>G (p.Ile3107Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753388T>G | CA359191600 | DNAH5 | c.10717A>C (p.Ile3573Leu) c.10672A>C (p.Ile3558Leu) c.10825A>C (p.Ile3609Leu) c.9730A>C (p.Ile3244Leu) c.5914A>C (p.Ile1972Leu) c.5467A>C (p.Ile1823Leu) c.4804A>C (p.Ile1602Leu) c.9319A>C (p.Ile3107Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13753388T= | CA1528423494 | DNAH5 | c.10717A= (p.Ile3573=) c.10672A= (p.Ile3558=) c.10825A= (p.Ile3609=) c.9730A= (p.Ile3244=) c.5914A= (p.Ile1972=) c.5467A= (p.Ile1823=) c.4804A= (p.Ile1602=) c.9319A= (p.Ile3107=) | |
5 | g.13753391_13753393del | CA3202150 | DNAH5 | c.10715_10717del (p.Thr3572del) c.10670_10672del (p.Thr3557del) c.10823_10825del (p.Thr3608del) c.9728_9730del (p.Thr3243del) c.5912_5914del (p.Thr1971del) c.5465_5467del (p.Thr1822del) c.4802_4804del (p.Thr1601del) c.9317_9319del (p.Thr3106del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753389A>C | CA443535592 | DNAH5 | c.10716T>G (p.Thr3572=) c.10671T>G (p.Thr3557=) c.10824T>G (p.Thr3608=) c.9729T>G (p.Thr3243=) c.5913T>G (p.Thr1971=) c.5466T>G (p.Thr1822=) c.4803T>G (p.Thr1601=) c.9318T>G (p.Thr3106=) | |
5 | g.13753389A>G | CA443535593 | DNAH5 | c.10716T>C (p.Thr3572=) c.10671T>C (p.Thr3557=) c.10824T>C (p.Thr3608=) c.9729T>C (p.Thr3243=) c.5913T>C (p.Thr1971=) c.5466T>C (p.Thr1822=) c.4803T>C (p.Thr1601=) c.9318T>C (p.Thr3106=) | |
5 | g.13753389A>T | CA443535594 | DNAH5 | c.10716T>A (p.Thr3572=) c.10671T>A (p.Thr3557=) c.10824T>A (p.Thr3608=) c.9729T>A (p.Thr3243=) c.5913T>A (p.Thr1971=) c.5466T>A (p.Thr1822=) c.4803T>A (p.Thr1601=) c.9318T>A (p.Thr3106=) | |
5 | g.13753390G>A | CA359191607 | DNAH5 | c.10715C>T (p.Thr3572Ile) c.10670C>T (p.Thr3557Ile) c.10823C>T (p.Thr3608Ile) c.9728C>T (p.Thr3243Ile) c.5912C>T (p.Thr1971Ile) c.5465C>T (p.Thr1822Ile) c.4802C>T (p.Thr1601Ile) c.9317C>T (p.Thr3106Ile) | gnomAD v4 |
5 | g.13753390G>C | CA359191608 | DNAH5 | c.10715C>G (p.Thr3572Ser) c.10670C>G (p.Thr3557Ser) c.10823C>G (p.Thr3608Ser) c.9728C>G (p.Thr3243Ser) c.5912C>G (p.Thr1971Ser) c.5465C>G (p.Thr1822Ser) c.4802C>G (p.Thr1601Ser) c.9317C>G (p.Thr3106Ser) | gnomAD v4 |
5 | g.13753390G>T | CA359191615 | DNAH5 | c.10715C>A (p.Thr3572Asn) c.10670C>A (p.Thr3557Asn) c.10823C>A (p.Thr3608Asn) c.9728C>A (p.Thr3243Asn) c.5912C>A (p.Thr1971Asn) c.5465C>A (p.Thr1822Asn) c.4802C>A (p.Thr1601Asn) c.9317C>A (p.Thr3106Asn) | |
5 | g.13753391T>A | CA359191617 | DNAH5 | c.10714A>T (p.Thr3572Ser) c.10669A>T (p.Thr3557Ser) c.10822A>T (p.Thr3608Ser) c.9727A>T (p.Thr3243Ser) c.5911A>T (p.Thr1971Ser) c.5464A>T (p.Thr1822Ser) c.4801A>T (p.Thr1601Ser) c.9316A>T (p.Thr3106Ser) | dbSNP |
5 | g.13753391T>C | CA359191619 | DNAH5 | c.10714A>G (p.Thr3572Ala) c.10669A>G (p.Thr3557Ala) c.10822A>G (p.Thr3608Ala) c.9727A>G (p.Thr3243Ala) c.5911A>G (p.Thr1971Ala) c.5464A>G (p.Thr1822Ala) c.4801A>G (p.Thr1601Ala) c.9316A>G (p.Thr3106Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753391T>G | CA359191621 | DNAH5 | c.10714A>C (p.Thr3572Pro) c.10669A>C (p.Thr3557Pro) c.10822A>C (p.Thr3608Pro) c.9727A>C (p.Thr3243Pro) c.5911A>C (p.Thr1971Pro) c.5464A>C (p.Thr1822Pro) c.4801A>C (p.Thr1601Pro) c.9316A>C (p.Thr3106Pro) | gnomAD v4 |
5 | g.13753391T= | CA1528423495 | DNAH5 | c.10714A= (p.Thr3572=) c.10669A= (p.Thr3557=) c.10822A= (p.Thr3608=) c.9727A= (p.Thr3243=) c.5911A= (p.Thr1971=) c.5464A= (p.Thr1822=) c.4801A= (p.Thr1601=) c.9316A= (p.Thr3106=) | |
5 | g.13753392A= | CA1528423496 | DNAH5 | c.10713T= (p.Pro3571=) c.10668T= (p.Pro3556=) c.10821T= (p.Pro3607=) c.9726T= (p.Pro3242=) c.5910T= (p.Pro1970=) c.5463T= (p.Pro1821=) c.4800T= (p.Pro1600=) c.9315T= (p.Pro3105=) | |
5 | g.13753392A>C | CA443535755 | DNAH5 | c.10713T>G (p.Pro3571=) c.10668T>G (p.Pro3556=) c.10821T>G (p.Pro3607=) c.9726T>G (p.Pro3242=) c.5910T>G (p.Pro1970=) c.5463T>G (p.Pro1821=) c.4800T>G (p.Pro1600=) c.9315T>G (p.Pro3105=) | |
5 | g.13753392A>G | CA3202152 | DNAH5 | c.10713T>C (p.Pro3571=) c.10668T>C (p.Pro3556=) c.10821T>C (p.Pro3607=) c.9726T>C (p.Pro3242=) c.5910T>C (p.Pro1970=) c.5463T>C (p.Pro1821=) c.4800T>C (p.Pro1600=) c.9315T>C (p.Pro3105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753392A>T | CA443535756 | DNAH5 | c.10713T>A (p.Pro3571=) c.10668T>A (p.Pro3556=) c.10821T>A (p.Pro3607=) c.9726T>A (p.Pro3242=) c.5910T>A (p.Pro1970=) c.5463T>A (p.Pro1821=) c.4800T>A (p.Pro1600=) c.9315T>A (p.Pro3105=) | |
5 | g.13753393_13753398dup | CA3202151 | DNAH5 | c.10708_10713dup (p.Pro3571_Thr3572insAlaPro) c.10663_10668dup (p.Pro3556_Thr3557insAlaPro) c.10816_10821dup (p.Pro3607_Thr3608insAlaPro) c.9721_9726dup (p.Pro3242_Thr3243insAlaPro) c.5905_5910dup (p.Pro1970_Thr1971insAlaPro) c.5458_5463dup (p.Pro1821_Thr1822insAlaPro) c.4795_4800dup (p.Pro1600_Thr1601insAlaPro) c.9310_9315dup (p.Pro3105_Thr3106insAlaPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753393G>A | CA359191628 | DNAH5 | c.10712C>T (p.Pro3571Leu) c.10667C>T (p.Pro3556Leu) c.10820C>T (p.Pro3607Leu) c.9725C>T (p.Pro3242Leu) c.5909C>T (p.Pro1970Leu) c.5462C>T (p.Pro1821Leu) c.4799C>T (p.Pro1600Leu) c.9314C>T (p.Pro3105Leu) | |
5 | g.13753393G>C | CA359191630 | DNAH5 | c.10712C>G (p.Pro3571Arg) c.10667C>G (p.Pro3556Arg) c.10820C>G (p.Pro3607Arg) c.9725C>G (p.Pro3242Arg) c.5909C>G (p.Pro1970Arg) c.5462C>G (p.Pro1821Arg) c.4799C>G (p.Pro1600Arg) c.9314C>G (p.Pro3105Arg) | |
5 | g.13753393G>T | CA359191631 | DNAH5 | c.10712C>A (p.Pro3571His) c.10667C>A (p.Pro3556His) c.10820C>A (p.Pro3607His) c.9725C>A (p.Pro3242His) c.5909C>A (p.Pro1970His) c.5462C>A (p.Pro1821His) c.4799C>A (p.Pro1600His) c.9314C>A (p.Pro3105His) | |
5 | g.13753394G>A | CA359191634 | DNAH5 | c.10711C>T (p.Pro3571Ser) c.10666C>T (p.Pro3556Ser) c.10819C>T (p.Pro3607Ser) c.9724C>T (p.Pro3242Ser) c.5908C>T (p.Pro1970Ser) c.5461C>T (p.Pro1821Ser) c.4798C>T (p.Pro1600Ser) c.9313C>T (p.Pro3105Ser) | COSMIC |
5 | g.13753394G>C | CA359191635 | DNAH5 | c.10711C>G (p.Pro3571Ala) c.10666C>G (p.Pro3556Ala) c.10819C>G (p.Pro3607Ala) c.9724C>G (p.Pro3242Ala) c.5908C>G (p.Pro1970Ala) c.5461C>G (p.Pro1821Ala) c.4798C>G (p.Pro1600Ala) c.9313C>G (p.Pro3105Ala) | ClinVar COSMIC |
5 | g.13753394G>T | CA359191637 | DNAH5 | c.10711C>A (p.Pro3571Thr) c.10666C>A (p.Pro3556Thr) c.10819C>A (p.Pro3607Thr) c.9724C>A (p.Pro3242Thr) c.5908C>A (p.Pro1970Thr) c.5461C>A (p.Pro1821Thr) c.4798C>A (p.Pro1600Thr) c.9313C>A (p.Pro3105Thr) | |
5 | g.13753395A>C | CA443535764 | DNAH5 | c.10710T>G (p.Ala3570=) c.10665T>G (p.Ala3555=) c.10818T>G (p.Ala3606=) c.9723T>G (p.Ala3241=) c.5907T>G (p.Ala1969=) c.5460T>G (p.Ala1820=) c.4797T>G (p.Ala1599=) c.9312T>G (p.Ala3104=) | |
5 | g.13753395A>G | CA443535765 | DNAH5 | c.10710T>C (p.Ala3570=) c.10665T>C (p.Ala3555=) c.10818T>C (p.Ala3606=) c.9723T>C (p.Ala3241=) c.5907T>C (p.Ala1969=) c.5460T>C (p.Ala1820=) c.4797T>C (p.Ala1599=) c.9312T>C (p.Ala3104=) | |
5 | g.13753395A>T | CA443535767 | DNAH5 | c.10710T>A (p.Ala3570=) c.10665T>A (p.Ala3555=) c.10818T>A (p.Ala3606=) c.9723T>A (p.Ala3241=) c.5907T>A (p.Ala1969=) c.5460T>A (p.Ala1820=) c.4797T>A (p.Ala1599=) c.9312T>A (p.Ala3104=) | ClinVar |
5 | g.13753396G>A | CA113918988 | DNAH5 | c.10709C>T (p.Ala3570Val) c.10664C>T (p.Ala3555Val) c.10817C>T (p.Ala3606Val) c.9722C>T (p.Ala3241Val) c.5906C>T (p.Ala1969Val) c.5459C>T (p.Ala1820Val) c.4796C>T (p.Ala1599Val) c.9311C>T (p.Ala3104Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13753396G>C | CA359191641 | DNAH5 | c.10709C>G (p.Ala3570Gly) c.10664C>G (p.Ala3555Gly) c.10817C>G (p.Ala3606Gly) c.9722C>G (p.Ala3241Gly) c.5906C>G (p.Ala1969Gly) c.5459C>G (p.Ala1820Gly) c.4796C>G (p.Ala1599Gly) c.9311C>G (p.Ala3104Gly) | |
5 | g.13753396G= | CA1528423497 | DNAH5 | c.10709C= (p.Ala3570=) c.10664C= (p.Ala3555=) c.10817C= (p.Ala3606=) c.9722C= (p.Ala3241=) c.5906C= (p.Ala1969=) c.5459C= (p.Ala1820=) c.4796C= (p.Ala1599=) c.9311C= (p.Ala3104=) | |
5 | g.13753396G>T | CA359191645 | DNAH5 | c.10709C>A (p.Ala3570Asp) c.10664C>A (p.Ala3555Asp) c.10817C>A (p.Ala3606Asp) c.9722C>A (p.Ala3241Asp) c.5906C>A (p.Ala1969Asp) c.5459C>A (p.Ala1820Asp) c.4796C>A (p.Ala1599Asp) c.9311C>A (p.Ala3104Asp) | |
5 | g.13753397C>A | CA359191647 | DNAH5 | c.10708G>T (p.Ala3570Ser) c.10663G>T (p.Ala3555Ser) c.10816G>T (p.Ala3606Ser) c.9721G>T (p.Ala3241Ser) c.5905G>T (p.Ala1969Ser) c.5458G>T (p.Ala1820Ser) c.4795G>T (p.Ala1599Ser) c.9310G>T (p.Ala3104Ser) | |
5 | g.13753397C>G | CA359191649 | DNAH5 | c.10708G>C (p.Ala3570Pro) c.10663G>C (p.Ala3555Pro) c.10816G>C (p.Ala3606Pro) c.9721G>C (p.Ala3241Pro) c.5905G>C (p.Ala1969Pro) c.5458G>C (p.Ala1820Pro) c.4795G>C (p.Ala1599Pro) c.9310G>C (p.Ala3104Pro) | |
5 | g.13753397C>T | CA359191650 | DNAH5 | c.10708G>A (p.Ala3570Thr) c.10663G>A (p.Ala3555Thr) c.10816G>A (p.Ala3606Thr) c.9721G>A (p.Ala3241Thr) c.5905G>A (p.Ala1969Thr) c.5458G>A (p.Ala1820Thr) c.4795G>A (p.Ala1599Thr) c.9310G>A (p.Ala3104Thr) | gnomAD v4 |
5 | g.13753398A>C | CA359191653 | DNAH5 | c.10707T>G (p.Asp3569Glu) c.10662T>G (p.Asp3554Glu) c.10815T>G (p.Asp3605Glu) c.9720T>G (p.Asp3240Glu) c.5904T>G (p.Asp1968Glu) c.5457T>G (p.Asp1819Glu) c.4794T>G (p.Asp1598Glu) c.9309T>G (p.Asp3103Glu) | |
5 | g.13753398A>G | CA443535772 | DNAH5 | c.10707T>C (p.Asp3569=) c.10662T>C (p.Asp3554=) c.10815T>C (p.Asp3605=) c.9720T>C (p.Asp3240=) c.5904T>C (p.Asp1968=) c.5457T>C (p.Asp1819=) c.4794T>C (p.Asp1598=) c.9309T>C (p.Asp3103=) | ClinVar dbSNP |
5 | g.13753398A>T | CA359191655 | DNAH5 | c.10707T>A (p.Asp3569Glu) c.10662T>A (p.Asp3554Glu) c.10815T>A (p.Asp3605Glu) c.9720T>A (p.Asp3240Glu) c.5904T>A (p.Asp1968Glu) c.5457T>A (p.Asp1819Glu) c.4794T>A (p.Asp1598Glu) c.9309T>A (p.Asp3103Glu) | |
5 | g.13753399T>A | CA359191658 | DNAH5 | c.10706A>T (p.Asp3569Val) c.10661A>T (p.Asp3554Val) c.10814A>T (p.Asp3605Val) c.9719A>T (p.Asp3240Val) c.5903A>T (p.Asp1968Val) c.5456A>T (p.Asp1819Val) c.4793A>T (p.Asp1598Val) c.9308A>T (p.Asp3103Val) | |
5 | g.13753399T>C | CA3202153 | DNAH5 | c.10706A>G (p.Asp3569Gly) c.10661A>G (p.Asp3554Gly) c.10814A>G (p.Asp3605Gly) c.9719A>G (p.Asp3240Gly) c.5903A>G (p.Asp1968Gly) c.5456A>G (p.Asp1819Gly) c.4793A>G (p.Asp1598Gly) c.9308A>G (p.Asp3103Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13753399T>G | CA359191659 | DNAH5 | c.10706A>C (p.Asp3569Ala) c.10661A>C (p.Asp3554Ala) c.10814A>C (p.Asp3605Ala) c.9719A>C (p.Asp3240Ala) c.5903A>C (p.Asp1968Ala) c.5456A>C (p.Asp1819Ala) c.4793A>C (p.Asp1598Ala) c.9308A>C (p.Asp3103Ala) | |
5 | g.13753399T= | CA1528423498 | DNAH5 | c.10706A= (p.Asp3569=) c.10661A= (p.Asp3554=) c.10814A= (p.Asp3605=) c.9719A= (p.Asp3240=) c.5903A= (p.Asp1968=) c.5456A= (p.Asp1819=) c.4793A= (p.Asp1598=) c.9308A= (p.Asp3103=) | |
5 | g.13753400C>A | CA359191665 | DNAH5 | c.10705G>T (p.Asp3569Tyr) c.10660G>T (p.Asp3554Tyr) c.10813G>T (p.Asp3605Tyr) c.9718G>T (p.Asp3240Tyr) c.5902G>T (p.Asp1968Tyr) c.5455G>T (p.Asp1819Tyr) c.4792G>T (p.Asp1598Tyr) c.9307G>T (p.Asp3103Tyr) | |
5 | g.13753400C>G | CA359191668 | DNAH5 | c.10705G>C (p.Asp3569His) c.10660G>C (p.Asp3554His) c.10813G>C (p.Asp3605His) c.9718G>C (p.Asp3240His) c.5902G>C (p.Asp1968His) c.5455G>C (p.Asp1819His) c.4792G>C (p.Asp1598His) c.9307G>C (p.Asp3103His) | |
5 | g.13753400C>T | CA359191669 | DNAH5 | c.10705G>A (p.Asp3569Asn) c.10660G>A (p.Asp3554Asn) c.10813G>A (p.Asp3605Asn) c.9718G>A (p.Asp3240Asn) c.5902G>A (p.Asp1968Asn) c.5455G>A (p.Asp1819Asn) c.4792G>A (p.Asp1598Asn) c.9307G>A (p.Asp3103Asn) | |
5 | g.13753401A>C | CA359191672 | DNAH5 | c.10704T>G (p.Ile3568Met) c.10659T>G (p.Ile3553Met) c.10812T>G (p.Ile3604Met) c.9717T>G (p.Ile3239Met) c.5901T>G (p.Ile1967Met) c.5454T>G (p.Ile1818Met) c.4791T>G (p.Ile1597Met) c.9306T>G (p.Ile3102Met) | |
5 | g.13753401A>G | CA443535784 | DNAH5 | c.10704T>C (p.Ile3568=) c.10659T>C (p.Ile3553=) c.10812T>C (p.Ile3604=) c.9717T>C (p.Ile3239=) c.5901T>C (p.Ile1967=) c.5454T>C (p.Ile1818=) c.4791T>C (p.Ile1597=) c.9306T>C (p.Ile3102=) | |
5 | g.13753401A>T | CA443535782 | DNAH5 | c.10704T>A (p.Ile3568=) c.10659T>A (p.Ile3553=) c.10812T>A (p.Ile3604=) c.9717T>A (p.Ile3239=) c.5901T>A (p.Ile1967=) c.5454T>A (p.Ile1818=) c.4791T>A (p.Ile1597=) c.9306T>A (p.Ile3102=) | |
5 | g.13753402A= | CA1528423499 | DNAH5 | c.10703T= (p.Ile3568=) c.10658T= (p.Ile3553=) c.10811T= (p.Ile3604=) c.9716T= (p.Ile3239=) c.5900T= (p.Ile1967=) c.5453T= (p.Ile1818=) c.4790T= (p.Ile1597=) c.9305T= (p.Ile3102=) | |
5 | g.13753402A>C | CA359191675 | DNAH5 | c.10703T>G (p.Ile3568Ser) c.10658T>G (p.Ile3553Ser) c.10811T>G (p.Ile3604Ser) c.9716T>G (p.Ile3239Ser) c.5900T>G (p.Ile1967Ser) c.5453T>G (p.Ile1818Ser) c.4790T>G (p.Ile1597Ser) c.9305T>G (p.Ile3102Ser) | dbSNP gnomAD v4 |
5 | g.13753402A>G | CA359191677 | DNAH5 | c.10703T>C (p.Ile3568Thr) c.10658T>C (p.Ile3553Thr) c.10811T>C (p.Ile3604Thr) c.9716T>C (p.Ile3239Thr) c.5900T>C (p.Ile1967Thr) c.5453T>C (p.Ile1818Thr) c.4790T>C (p.Ile1597Thr) c.9305T>C (p.Ile3102Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753402A>T | CA359191678 | DNAH5 | c.10703T>A (p.Ile3568Asn) c.10658T>A (p.Ile3553Asn) c.10811T>A (p.Ile3604Asn) c.9716T>A (p.Ile3239Asn) c.5900T>A (p.Ile1967Asn) c.5453T>A (p.Ile1818Asn) c.4790T>A (p.Ile1597Asn) c.9305T>A (p.Ile3102Asn) | |
5 | g.13753403T>A | CA359191681 | DNAH5 | c.10702A>T (p.Ile3568Phe) c.10657A>T (p.Ile3553Phe) c.10810A>T (p.Ile3604Phe) c.9715A>T (p.Ile3239Phe) c.5899A>T (p.Ile1967Phe) c.5452A>T (p.Ile1818Phe) c.4789A>T (p.Ile1597Phe) c.9304A>T (p.Ile3102Phe) | |
5 | g.13753403T>C | CA359191683 | DNAH5 | c.10702A>G (p.Ile3568Val) c.10657A>G (p.Ile3553Val) c.10810A>G (p.Ile3604Val) c.9715A>G (p.Ile3239Val) c.5899A>G (p.Ile1967Val) c.5452A>G (p.Ile1818Val) c.4789A>G (p.Ile1597Val) c.9304A>G (p.Ile3102Val) | |
5 | g.13753403T>G | CA359191686 | DNAH5 | c.10702A>C (p.Ile3568Leu) c.10657A>C (p.Ile3553Leu) c.10810A>C (p.Ile3604Leu) c.9715A>C (p.Ile3239Leu) c.5899A>C (p.Ile1967Leu) c.5452A>C (p.Ile1818Leu) c.4789A>C (p.Ile1597Leu) c.9304A>C (p.Ile3102Leu) | |
5 | g.13753404C>A | CA359191689 | DNAH5 | c.10701G>T (p.Leu3567Phe) c.10656G>T (p.Leu3552Phe) c.10809G>T (p.Leu3603Phe) c.9714G>T (p.Leu3238Phe) c.5898G>T (p.Leu1966Phe) c.5451G>T (p.Leu1817Phe) c.4788G>T (p.Leu1596Phe) c.9303G>T (p.Leu3101Phe) | |
5 | g.13753404C>G | CA359191691 | DNAH5 | c.10701G>C (p.Leu3567Phe) c.10656G>C (p.Leu3552Phe) c.10809G>C (p.Leu3603Phe) c.9714G>C (p.Leu3238Phe) c.5898G>C (p.Leu1966Phe) c.5451G>C (p.Leu1817Phe) c.4788G>C (p.Leu1596Phe) c.9303G>C (p.Leu3101Phe) | |
5 | g.13753404C>T | CA443535789 | DNAH5 | c.10701G>A (p.Leu3567=) c.10656G>A (p.Leu3552=) c.10809G>A (p.Leu3603=) c.9714G>A (p.Leu3238=) c.5898G>A (p.Leu1966=) c.5451G>A (p.Leu1817=) c.4788G>A (p.Leu1596=) c.9303G>A (p.Leu3101=) | |
5 | g.13753405A= | CA1528423500 | DNAH5 | c.10700T= (p.Leu3567=) c.10655T= (p.Leu3552=) c.10808T= (p.Leu3603=) c.9713T= (p.Leu3238=) c.5897T= (p.Leu1966=) c.5450T= (p.Leu1817=) c.4787T= (p.Leu1596=) c.9302T= (p.Leu3101=) | |
5 | g.13753405A>C | CA359191699 | DNAH5 | c.10700T>G (p.Leu3567Trp) c.10655T>G (p.Leu3552Trp) c.10808T>G (p.Leu3603Trp) c.9713T>G (p.Leu3238Trp) c.5897T>G (p.Leu1966Trp) c.5450T>G (p.Leu1817Trp) c.4787T>G (p.Leu1596Trp) c.9302T>G (p.Leu3101Trp) | COSMIC |
5 | g.13753405A>G | CA3202154 | DNAH5 | c.10700T>C (p.Leu3567Ser) c.10655T>C (p.Leu3552Ser) c.10808T>C (p.Leu3603Ser) c.9713T>C (p.Leu3238Ser) c.5897T>C (p.Leu1966Ser) c.5450T>C (p.Leu1817Ser) c.4787T>C (p.Leu1596Ser) c.9302T>C (p.Leu3101Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13753405A>T | CA359191696 | DNAH5 | c.10700T>A (p.Leu3567Ter) c.10655T>A (p.Leu3552Ter) c.10808T>A (p.Leu3603Ter) c.9713T>A (p.Leu3238Ter) c.5897T>A (p.Leu1966Ter) c.5450T>A (p.Leu1817Ter) c.4787T>A (p.Leu1596Ter) c.9302T>A (p.Leu3101Ter) | |
5 | g.13753406A>C | CA359191703 | DNAH5 | c.10699T>G (p.Leu3567Val) c.10654T>G (p.Leu3552Val) c.10807T>G (p.Leu3603Val) c.9712T>G (p.Leu3238Val) c.5896T>G (p.Leu1966Val) c.5449T>G (p.Leu1817Val) c.4786T>G (p.Leu1596Val) c.9301T>G (p.Leu3101Val) | gnomAD v4 |
5 | g.13753406A>G | CA443535794 | DNAH5 | c.10699T>C (p.Leu3567=) c.10654T>C (p.Leu3552=) c.10807T>C (p.Leu3603=) c.9712T>C (p.Leu3238=) c.5896T>C (p.Leu1966=) c.5449T>C (p.Leu1817=) c.4786T>C (p.Leu1596=) c.9301T>C (p.Leu3101=) | |
5 | g.13753406A>T | CA359191706 | DNAH5 | c.10699T>A (p.Leu3567Met) c.10654T>A (p.Leu3552Met) c.10807T>A (p.Leu3603Met) c.9712T>A (p.Leu3238Met) c.5896T>A (p.Leu1966Met) c.5449T>A (p.Leu1817Met) c.4786T>A (p.Leu1596Met) c.9301T>A (p.Leu3101Met) | |
5 | g.13753407C>A | CA359191708 | DNAH5 | c.10698G>T (p.Met3566Ile) c.10653G>T (p.Met3551Ile) c.10806G>T (p.Met3602Ile) c.9711G>T (p.Met3237Ile) c.5895G>T (p.Met1965Ile) c.5448G>T (p.Met1816Ile) c.4785G>T (p.Met1595Ile) c.9300G>T (p.Met3100Ile) | |
5 | g.13753407C= | CA1528423501 | DNAH5 | c.10698G= (p.Met3566=) c.10653G= (p.Met3551=) c.10806G= (p.Met3602=) c.9711G= (p.Met3237=) c.5895G= (p.Met1965=) c.5448G= (p.Met1816=) c.4785G= (p.Met1595=) c.9300G= (p.Met3100=) | |
5 | g.13753407C>G | CA359191710 | DNAH5 | c.10698G>C (p.Met3566Ile) c.10653G>C (p.Met3551Ile) c.10806G>C (p.Met3602Ile) c.9711G>C (p.Met3237Ile) c.5895G>C (p.Met1965Ile) c.5448G>C (p.Met1816Ile) c.4785G>C (p.Met1595Ile) c.9300G>C (p.Met3100Ile) | |
5 | g.13753407C>T | CA3202155 | DNAH5 | c.10698G>A (p.Met3566Ile) c.10653G>A (p.Met3551Ile) c.10806G>A (p.Met3602Ile) c.9711G>A (p.Met3237Ile) c.5895G>A (p.Met1965Ile) c.5448G>A (p.Met1816Ile) c.4785G>A (p.Met1595Ile) c.9300G>A (p.Met3100Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13753408A= | CA1528423502 | DNAH5 | c.10697T= (p.Met3566=) c.10652T= (p.Met3551=) c.10805T= (p.Met3602=) c.9710T= (p.Met3237=) c.5894T= (p.Met1965=) c.5447T= (p.Met1816=) c.4784T= (p.Met1595=) c.9299T= (p.Met3100=) | |
5 | g.13753408A>C | CA359191715 | DNAH5 | c.10697T>G (p.Met3566Arg) c.10652T>G (p.Met3551Arg) c.10805T>G (p.Met3602Arg) c.9710T>G (p.Met3237Arg) c.5894T>G (p.Met1965Arg) c.5447T>G (p.Met1816Arg) c.4784T>G (p.Met1595Arg) c.9299T>G (p.Met3100Arg) | |
5 | g.13753408A>G | CA359191717 | DNAH5 | c.10697T>C (p.Met3566Thr) c.10652T>C (p.Met3551Thr) c.10805T>C (p.Met3602Thr) c.9710T>C (p.Met3237Thr) c.5894T>C (p.Met1965Thr) c.5447T>C (p.Met1816Thr) c.4784T>C (p.Met1595Thr) c.9299T>C (p.Met3100Thr) | dbSNP gnomAD v2 |
5 | g.13753408A>T | CA359191719 | DNAH5 | c.10697T>A (p.Met3566Lys) c.10652T>A (p.Met3551Lys) c.10805T>A (p.Met3602Lys) c.9710T>A (p.Met3237Lys) c.5894T>A (p.Met1965Lys) c.5447T>A (p.Met1816Lys) c.4784T>A (p.Met1595Lys) c.9299T>A (p.Met3100Lys) | |
5 | g.13753409T>A | CA359191721 | DNAH5 | c.10696A>T (p.Met3566Leu) c.10651A>T (p.Met3551Leu) c.10804A>T (p.Met3602Leu) c.9709A>T (p.Met3237Leu) c.5893A>T (p.Met1965Leu) c.5446A>T (p.Met1816Leu) c.4783A>T (p.Met1595Leu) c.9298A>T (p.Met3100Leu) | |
5 | g.13753409T>C | CA359191724 | DNAH5 | c.10696A>G (p.Met3566Val) c.10651A>G (p.Met3551Val) c.10804A>G (p.Met3602Val) c.9709A>G (p.Met3237Val) c.5893A>G (p.Met1965Val) c.5446A>G (p.Met1816Val) c.4783A>G (p.Met1595Val) c.9298A>G (p.Met3100Val) | |
5 | g.13753409T>G | CA359191727 | DNAH5 | c.10696A>C (p.Met3566Leu) c.10651A>C (p.Met3551Leu) c.10804A>C (p.Met3602Leu) c.9709A>C (p.Met3237Leu) c.5893A>C (p.Met1965Leu) c.5446A>C (p.Met1816Leu) c.4783A>C (p.Met1595Leu) c.9298A>C (p.Met3100Leu) | gnomAD v4 |
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) |