Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13735825A>C | CA359224530 | DNAH5 | c.11563T>G (p.Leu3855Val) c.11518T>G (p.Leu3840Val) c.11671T>G (p.Leu3891Val) c.10576T>G (p.Leu3526Val) c.11427T>G (p.Pro3809=) c.6760T>G (p.Leu2254Val) c.6313T>G (p.Leu2105Val) c.5650T>G (p.Leu1884Val) c.10165T>G (p.Leu3389Val) | |
5 | g.13735825A>G | CA443260244 | DNAH5 | c.11563T>C (p.Leu3855=) c.11518T>C (p.Leu3840=) c.11671T>C (p.Leu3891=) c.10576T>C (p.Leu3526=) c.11427T>C (p.Pro3809=) c.6760T>C (p.Leu2254=) c.6313T>C (p.Leu2105=) c.5650T>C (p.Leu1884=) c.10165T>C (p.Leu3389=) | |
5 | g.13735825A>T | CA359224532 | DNAH5 | c.11563T>A (p.Leu3855Ile) c.11518T>A (p.Leu3840Ile) c.11671T>A (p.Leu3891Ile) c.10576T>A (p.Leu3526Ile) c.11427T>A (p.Pro3809=) c.6760T>A (p.Leu2254Ile) c.6313T>A (p.Leu2105Ile) c.5650T>A (p.Leu1884Ile) c.10165T>A (p.Leu3389Ile) | |
5 | g.13735826G>A | CA443260246 | DNAH5 | c.11562C>T (p.Ser3854=) c.11517C>T (p.Ser3839=) c.11670C>T (p.Ser3890=) c.10575C>T (p.Ser3525=) c.11426C>T (p.Pro3809Leu) c.6759C>T (p.Ser2253=) c.6312C>T (p.Ser2104=) c.5649C>T (p.Ser1883=) c.10164C>T (p.Ser3388=) | gnomAD v4 |
5 | g.13735826G>C | CA443260247 | DNAH5 | c.11562C>G (p.Ser3854=) c.11517C>G (p.Ser3839=) c.11670C>G (p.Ser3890=) c.10575C>G (p.Ser3525=) c.11426C>G (p.Pro3809Arg) c.6759C>G (p.Ser2253=) c.6312C>G (p.Ser2104=) c.5649C>G (p.Ser1883=) c.10164C>G (p.Ser3388=) | |
5 | g.13735826G>T | CA443260248 | DNAH5 | c.11562C>A (p.Ser3854=) c.11517C>A (p.Ser3839=) c.11670C>A (p.Ser3890=) c.10575C>A (p.Ser3525=) c.11426C>A (p.Pro3809His) c.6759C>A (p.Ser2253=) c.6312C>A (p.Ser2104=) c.5649C>A (p.Ser1883=) c.10164C>A (p.Ser3388=) | |
5 | g.13735826_13735827insC | CA2673268061 | DNAH5 | c.11561_11562insG (p.Ala3856SerfsTer15) c.11516_11517insG (p.Ala3841SerfsTer15) c.11669_11670insG (p.Ala3892SerfsTer15) c.10574_10575insG (p.Ala3527SerfsTer15) c.11425_11426insG (p.Pro3809ArgfsTer?) c.6758_6759insG (p.Ala2255SerfsTer15) c.6311_6312insG (p.Ala2106SerfsTer15) c.5648_5649insG (p.Ala1885SerfsTer15) c.10163_10164insG (p.Ala3390SerfsTer15) | gnomAD v4 |
5 | g.13735827G>A | CA113927502 | DNAH5 | c.11561C>T (p.Ser3854Phe) c.11516C>T (p.Ser3839Phe) c.11669C>T (p.Ser3890Phe) c.10574C>T (p.Ser3525Phe) c.11425C>T (p.Pro3809Ser) c.6758C>T (p.Ser2253Phe) c.6311C>T (p.Ser2104Phe) c.5648C>T (p.Ser1883Phe) c.10163C>T (p.Ser3388Phe) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13735827G>C | CA359224535 | DNAH5 | c.11561C>G (p.Ser3854Cys) c.11516C>G (p.Ser3839Cys) c.11669C>G (p.Ser3890Cys) c.10574C>G (p.Ser3525Cys) c.11425C>G (p.Pro3809Ala) c.6758C>G (p.Ser2253Cys) c.6311C>G (p.Ser2104Cys) c.5648C>G (p.Ser1883Cys) c.10163C>G (p.Ser3388Cys) | |
5 | g.13735827G= | CA1528415099 | DNAH5 | c.11561C= (p.Ser3854=) c.11516C= (p.Ser3839=) c.11669C= (p.Ser3890=) c.10574C= (p.Ser3525=) c.11425C= (p.Pro3809=) c.6758C= (p.Ser2253=) c.6311C= (p.Ser2104=) c.5648C= (p.Ser1883=) c.10163C= (p.Ser3388=) | |
5 | g.13735827G>T | CA359224536 | DNAH5 | c.11561C>A (p.Ser3854Tyr) c.11516C>A (p.Ser3839Tyr) c.11669C>A (p.Ser3890Tyr) c.10574C>A (p.Ser3525Tyr) c.11425C>A (p.Pro3809Thr) c.6758C>A (p.Ser2253Tyr) c.6311C>A (p.Ser2104Tyr) c.5648C>A (p.Ser1883Tyr) c.10163C>A (p.Ser3388Tyr) | |
5 | g.13735828A>C | CA359224542 | DNAH5 | c.11560T>G (p.Ser3854Ala) c.11515T>G (p.Ser3839Ala) c.11668T>G (p.Ser3890Ala) c.10573T>G (p.Ser3525Ala) c.11424T>G (p.Phe3808Leu) c.6757T>G (p.Ser2253Ala) c.6310T>G (p.Ser2104Ala) c.5647T>G (p.Ser1883Ala) c.10162T>G (p.Ser3388Ala) | |
5 | g.13735828A>G | CA359224544 | DNAH5 | c.11560T>C (p.Ser3854Pro) c.11515T>C (p.Ser3839Pro) c.11668T>C (p.Ser3890Pro) c.10573T>C (p.Ser3525Pro) c.11424T>C (p.Phe3808=) c.6757T>C (p.Ser2253Pro) c.6310T>C (p.Ser2104Pro) c.5647T>C (p.Ser1883Pro) c.10162T>C (p.Ser3388Pro) | |
5 | g.13735828A>T | CA359224547 | DNAH5 | c.11560T>A (p.Ser3854Thr) c.11515T>A (p.Ser3839Thr) c.11668T>A (p.Ser3890Thr) c.10573T>A (p.Ser3525Thr) c.11424T>A (p.Phe3808Leu) c.6757T>A (p.Ser2253Thr) c.6310T>A (p.Ser2104Thr) c.5647T>A (p.Ser1883Thr) c.10162T>A (p.Ser3388Thr) | |
5 | g.13735829A= | CA1528415100 | DNAH5 | c.11559T= (p.Leu3853=) c.11514T= (p.Leu3838=) c.11667T= (p.Leu3889=) c.10572T= (p.Leu3524=) c.11423T= (p.Phe3808=) c.6756T= (p.Leu2252=) c.6309T= (p.Leu2103=) c.5646T= (p.Leu1882=) c.10161T= (p.Leu3387=) | |
5 | g.13735829A>C | CA443260255 | DNAH5 | c.11559T>G (p.Leu3853=) c.11514T>G (p.Leu3838=) c.11667T>G (p.Leu3889=) c.10572T>G (p.Leu3524=) c.11423T>G (p.Phe3808Cys) c.6756T>G (p.Leu2252=) c.6309T>G (p.Leu2103=) c.5646T>G (p.Leu1882=) c.10161T>G (p.Leu3387=) | |
5 | g.13735829A>G | CA3201928 | DNAH5 | c.11559T>C (p.Leu3853=) c.11514T>C (p.Leu3838=) c.11667T>C (p.Leu3889=) c.10572T>C (p.Leu3524=) c.11423T>C (p.Phe3808Ser) c.6756T>C (p.Leu2252=) c.6309T>C (p.Leu2103=) c.5646T>C (p.Leu1882=) c.10161T>C (p.Leu3387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735829A>T | CA443260256 | DNAH5 | c.11559T>A (p.Leu3853=) c.11514T>A (p.Leu3838=) c.11667T>A (p.Leu3889=) c.10572T>A (p.Leu3524=) c.11423T>A (p.Phe3808Tyr) c.6756T>A (p.Leu2252=) c.6309T>A (p.Leu2103=) c.5646T>A (p.Leu1882=) c.10161T>A (p.Leu3387=) | |
5 | g.13735830A= | CA1528415101 | DNAH5 | c.11558T= (p.Leu3853=) c.11513T= (p.Leu3838=) c.11666T= (p.Leu3889=) c.10571T= (p.Leu3524=) c.11422T= (p.Phe3808=) c.6755T= (p.Leu2252=) c.6308T= (p.Leu2103=) c.5645T= (p.Leu1882=) c.10160T= (p.Leu3387=) | |
5 | g.13735830A>C | CA359224550 | DNAH5 | c.11558T>G (p.Leu3853Arg) c.11513T>G (p.Leu3838Arg) c.11666T>G (p.Leu3889Arg) c.10571T>G (p.Leu3524Arg) c.11422T>G (p.Phe3808Val) c.6755T>G (p.Leu2252Arg) c.6308T>G (p.Leu2103Arg) c.5645T>G (p.Leu1882Arg) c.10160T>G (p.Leu3387Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735830A>G | CA359224551 | DNAH5 | c.11558T>C (p.Leu3853Pro) c.11513T>C (p.Leu3838Pro) c.11666T>C (p.Leu3889Pro) c.10571T>C (p.Leu3524Pro) c.11422T>C (p.Phe3808Leu) c.6755T>C (p.Leu2252Pro) c.6308T>C (p.Leu2103Pro) c.5645T>C (p.Leu1882Pro) c.10160T>C (p.Leu3387Pro) | |
5 | g.13735830A>T | CA359224552 | DNAH5 | c.11558T>A (p.Leu3853His) c.11513T>A (p.Leu3838His) c.11666T>A (p.Leu3889His) c.10571T>A (p.Leu3524His) c.11422T>A (p.Phe3808Ile) c.6755T>A (p.Leu2252His) c.6308T>A (p.Leu2103His) c.5645T>A (p.Leu1882His) c.10160T>A (p.Leu3387His) | COSMIC |
5 | g.13735831G>A | CA359224553 | DNAH5 | c.11557C>T (p.Leu3853Phe) c.11512C>T (p.Leu3838Phe) c.11665C>T (p.Leu3889Phe) c.10570C>T (p.Leu3524Phe) c.11421C>T (p.Thr3807=) c.6754C>T (p.Leu2252Phe) c.6307C>T (p.Leu2103Phe) c.5644C>T (p.Leu1882Phe) c.10159C>T (p.Leu3387Phe) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735831G>C | CA359224556 | DNAH5 | c.11557C>G (p.Leu3853Val) c.11512C>G (p.Leu3838Val) c.11665C>G (p.Leu3889Val) c.10570C>G (p.Leu3524Val) c.11421C>G (p.Thr3807=) c.6754C>G (p.Leu2252Val) c.6307C>G (p.Leu2103Val) c.5644C>G (p.Leu1882Val) c.10159C>G (p.Leu3387Val) | |
5 | g.13735831G= | CA1528415102 | DNAH5 | c.11557C= (p.Leu3853=) c.11512C= (p.Leu3838=) c.11665C= (p.Leu3889=) c.10570C= (p.Leu3524=) c.11421C= (p.Thr3807=) c.6754C= (p.Leu2252=) c.6307C= (p.Leu2103=) c.5644C= (p.Leu1882=) c.10159C= (p.Leu3387=) | |
5 | g.13735831G>T | CA359224558 | DNAH5 | c.11557C>A (p.Leu3853Ile) c.11512C>A (p.Leu3838Ile) c.11665C>A (p.Leu3889Ile) c.10570C>A (p.Leu3524Ile) c.11421C>A (p.Thr3807=) c.6754C>A (p.Leu2252Ile) c.6307C>A (p.Leu2103Ile) c.5644C>A (p.Leu1882Ile) c.10159C>A (p.Leu3387Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735832G>A | CA3201929 | DNAH5 | c.11556C>T (p.Asp3852=) c.11511C>T (p.Asp3837=) c.11664C>T (p.Asp3888=) c.10569C>T (p.Asp3523=) c.11420C>T (p.Thr3807Ile) c.6753C>T (p.Asp2251=) c.6306C>T (p.Asp2102=) c.5643C>T (p.Asp1881=) c.10158C>T (p.Asp3386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735832G>C | CA359224564 | DNAH5 | c.11556C>G (p.Asp3852Glu) c.11511C>G (p.Asp3837Glu) c.11664C>G (p.Asp3888Glu) c.10569C>G (p.Asp3523Glu) c.11420C>G (p.Thr3807Ser) c.6753C>G (p.Asp2251Glu) c.6306C>G (p.Asp2102Glu) c.5643C>G (p.Asp1881Glu) c.10158C>G (p.Asp3386Glu) | gnomAD v4 |
5 | g.13735832G= | CA1528415103 | DNAH5 | c.11556C= (p.Asp3852=) c.11511C= (p.Asp3837=) c.11664C= (p.Asp3888=) c.10569C= (p.Asp3523=) c.11420C= (p.Thr3807=) c.6753C= (p.Asp2251=) c.6306C= (p.Asp2102=) c.5643C= (p.Asp1881=) c.10158C= (p.Asp3386=) | |
5 | g.13735832G>T | CA359224562 | DNAH5 | c.11556C>A (p.Asp3852Glu) c.11511C>A (p.Asp3837Glu) c.11664C>A (p.Asp3888Glu) c.10569C>A (p.Asp3523Glu) c.11420C>A (p.Thr3807Asn) c.6753C>A (p.Asp2251Glu) c.6306C>A (p.Asp2102Glu) c.5643C>A (p.Asp1881Glu) c.10158C>A (p.Asp3386Glu) | gnomAD v4 |
5 | g.13735833T>A | CA359224566 | DNAH5 | c.11555A>T (p.Asp3852Val) c.11510A>T (p.Asp3837Val) c.11663A>T (p.Asp3888Val) c.10568A>T (p.Asp3523Val) c.11419A>T (p.Thr3807Ser) c.6752A>T (p.Asp2251Val) c.6305A>T (p.Asp2102Val) c.5642A>T (p.Asp1881Val) c.10157A>T (p.Asp3386Val) | |
5 | g.13735833T>C | CA359224568 | DNAH5 | c.11555A>G (p.Asp3852Gly) c.11510A>G (p.Asp3837Gly) c.11663A>G (p.Asp3888Gly) c.10568A>G (p.Asp3523Gly) c.11419A>G (p.Thr3807Ala) c.6752A>G (p.Asp2251Gly) c.6305A>G (p.Asp2102Gly) c.5642A>G (p.Asp1881Gly) c.10157A>G (p.Asp3386Gly) | |
5 | g.13735833T>G | CA359224571 | DNAH5 | c.11555A>C (p.Asp3852Ala) c.11510A>C (p.Asp3837Ala) c.11663A>C (p.Asp3888Ala) c.10568A>C (p.Asp3523Ala) c.11419A>C (p.Thr3807Pro) c.6752A>C (p.Asp2251Ala) c.6305A>C (p.Asp2102Ala) c.5642A>C (p.Asp1881Ala) c.10157A>C (p.Asp3386Ala) | |
5 | g.13735834C>A | CA359224574 | DNAH5 | c.11554G>T (p.Asp3852Tyr) c.11509G>T (p.Asp3837Tyr) c.11662G>T (p.Asp3888Tyr) c.10567G>T (p.Asp3523Tyr) c.11418G>T (p.Leu3806Phe) c.6751G>T (p.Asp2251Tyr) c.6304G>T (p.Asp2102Tyr) c.5641G>T (p.Asp1881Tyr) c.10156G>T (p.Asp3386Tyr) | COSMIC |
5 | g.13735834C>G | CA359224576 | DNAH5 | c.11554G>C (p.Asp3852His) c.11509G>C (p.Asp3837His) c.11662G>C (p.Asp3888His) c.10567G>C (p.Asp3523His) c.11418G>C (p.Leu3806Phe) c.6751G>C (p.Asp2251His) c.6304G>C (p.Asp2102His) c.5641G>C (p.Asp1881His) c.10156G>C (p.Asp3386His) | |
5 | g.13735834C>T | CA359224578 | DNAH5 | c.11554G>A (p.Asp3852Asn) c.11509G>A (p.Asp3837Asn) c.11662G>A (p.Asp3888Asn) c.10567G>A (p.Asp3523Asn) c.11418G>A (p.Leu3806=) c.6751G>A (p.Asp2251Asn) c.6304G>A (p.Asp2102Asn) c.5641G>A (p.Asp1881Asn) c.10156G>A (p.Asp3386Asn) | |
5 | g.13735835A= | CA1528415104 | DNAH5 | c.11553T= (p.Phe3851=) c.11508T= (p.Phe3836=) c.11661T= (p.Phe3887=) c.10566T= (p.Phe3522=) c.11417T= (p.Leu3806=) c.6750T= (p.Phe2250=) c.6303T= (p.Phe2101=) c.5640T= (p.Phe1880=) c.10155T= (p.Phe3385=) | |
5 | g.13735835A>C | CA359224580 | DNAH5 | c.11553T>G (p.Phe3851Leu) c.11508T>G (p.Phe3836Leu) c.11661T>G (p.Phe3887Leu) c.10566T>G (p.Phe3522Leu) c.11417T>G (p.Leu3806Trp) c.6750T>G (p.Phe2250Leu) c.6303T>G (p.Phe2101Leu) c.5640T>G (p.Phe1880Leu) c.10155T>G (p.Phe3385Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735835A>G | CA443260268 | DNAH5 | c.11553T>C (p.Phe3851=) c.11508T>C (p.Phe3836=) c.11661T>C (p.Phe3887=) c.10566T>C (p.Phe3522=) c.11417T>C (p.Leu3806Ser) c.6750T>C (p.Phe2250=) c.6303T>C (p.Phe2101=) c.5640T>C (p.Phe1880=) c.10155T>C (p.Phe3385=) | |
5 | g.13735835A>T | CA359224582 | DNAH5 | c.11553T>A (p.Phe3851Leu) c.11508T>A (p.Phe3836Leu) c.11661T>A (p.Phe3887Leu) c.10566T>A (p.Phe3522Leu) c.11417T>A (p.Leu3806Ter) c.6750T>A (p.Phe2250Leu) c.6303T>A (p.Phe2101Leu) c.5640T>A (p.Phe1880Leu) c.10155T>A (p.Phe3385Leu) | |
5 | g.13735836A>C | CA359224585 | DNAH5 | c.11552T>G (p.Phe3851Cys) c.11507T>G (p.Phe3836Cys) c.11660T>G (p.Phe3887Cys) c.10565T>G (p.Phe3522Cys) c.11416T>G (p.Leu3806Val) c.6749T>G (p.Phe2250Cys) c.6302T>G (p.Phe2101Cys) c.5639T>G (p.Phe1880Cys) c.10154T>G (p.Phe3385Cys) | |
5 | g.13735836A>G | CA359224587 | DNAH5 | c.11552T>C (p.Phe3851Ser) c.11507T>C (p.Phe3836Ser) c.11660T>C (p.Phe3887Ser) c.10565T>C (p.Phe3522Ser) c.11416T>C (p.Leu3806=) c.6749T>C (p.Phe2250Ser) c.6302T>C (p.Phe2101Ser) c.5639T>C (p.Phe1880Ser) c.10154T>C (p.Phe3385Ser) | |
5 | g.13735836A>T | CA359224589 | DNAH5 | c.11552T>A (p.Phe3851Tyr) c.11507T>A (p.Phe3836Tyr) c.11660T>A (p.Phe3887Tyr) c.10565T>A (p.Phe3522Tyr) c.11416T>A (p.Leu3806Met) c.6749T>A (p.Phe2250Tyr) c.6302T>A (p.Phe2101Tyr) c.5639T>A (p.Phe1880Tyr) c.10154T>A (p.Phe3385Tyr) | |
5 | g.13735837A>C | CA359224592 | DNAH5 | c.11551T>G (p.Phe3851Val) c.11506T>G (p.Phe3836Val) c.11659T>G (p.Phe3887Val) c.10564T>G (p.Phe3522Val) c.11415T>G (p.Tyr3805Ter) c.6748T>G (p.Phe2250Val) c.6301T>G (p.Phe2101Val) c.5638T>G (p.Phe1880Val) c.10153T>G (p.Phe3385Val) | |
5 | g.13735837A>G | CA359224593 | DNAH5 | c.11551T>C (p.Phe3851Leu) c.11506T>C (p.Phe3836Leu) c.11659T>C (p.Phe3887Leu) c.10564T>C (p.Phe3522Leu) c.11415T>C (p.Tyr3805=) c.6748T>C (p.Phe2250Leu) c.6301T>C (p.Phe2101Leu) c.5638T>C (p.Phe1880Leu) c.10153T>C (p.Phe3385Leu) | |
5 | g.13735837A>T | CA359224591 | DNAH5 | c.11551T>A (p.Phe3851Ile) c.11506T>A (p.Phe3836Ile) c.11659T>A (p.Phe3887Ile) c.10564T>A (p.Phe3522Ile) c.11415T>A (p.Tyr3805Ter) c.6748T>A (p.Phe2250Ile) c.6301T>A (p.Phe2101Ile) c.5638T>A (p.Phe1880Ile) c.10153T>A (p.Phe3385Ile) | |
5 | g.13735838T>A | CA359224594 | DNAH5 | c.11550A>T (p.Leu3850Phe) c.11505A>T (p.Leu3835Phe) c.11658A>T (p.Leu3886Phe) c.10563A>T (p.Leu3521Phe) c.11414A>T (p.Tyr3805Phe) c.6747A>T (p.Leu2249Phe) c.6300A>T (p.Leu2100Phe) c.5637A>T (p.Leu1879Phe) c.10152A>T (p.Leu3384Phe) | gnomAD v4 |
5 | g.13735838T>C | CA443260273 | DNAH5 | c.11550A>G (p.Leu3850=) c.11505A>G (p.Leu3835=) c.11658A>G (p.Leu3886=) c.10563A>G (p.Leu3521=) c.11414A>G (p.Tyr3805Cys) c.6747A>G (p.Leu2249=) c.6300A>G (p.Leu2100=) c.5637A>G (p.Leu1879=) c.10152A>G (p.Leu3384=) | ClinVar COSMIC |
5 | g.13735838T>G | CA359224595 | DNAH5 | c.11550A>C (p.Leu3850Phe) c.11505A>C (p.Leu3835Phe) c.11658A>C (p.Leu3886Phe) c.10563A>C (p.Leu3521Phe) c.11414A>C (p.Tyr3805Ser) c.6747A>C (p.Leu2249Phe) c.6300A>C (p.Leu2100Phe) c.5637A>C (p.Leu1879Phe) c.10152A>C (p.Leu3384Phe) | |
5 | g.13735839A>C | CA359224597 | DNAH5 | c.11549T>G (p.Leu3850Ter) c.11504T>G (p.Leu3835Ter) c.11657T>G (p.Leu3886Ter) c.10562T>G (p.Leu3521Ter) c.11413T>G (p.Tyr3805Asp) c.6746T>G (p.Leu2249Ter) c.6299T>G (p.Leu2100Ter) c.5636T>G (p.Leu1879Ter) c.10151T>G (p.Leu3384Ter) | |
5 | g.13735839A>G | CA359224599 | DNAH5 | c.11549T>C (p.Leu3850Ser) c.11504T>C (p.Leu3835Ser) c.11657T>C (p.Leu3886Ser) c.10562T>C (p.Leu3521Ser) c.11413T>C (p.Tyr3805His) c.6746T>C (p.Leu2249Ser) c.6299T>C (p.Leu2100Ser) c.5636T>C (p.Leu1879Ser) c.10151T>C (p.Leu3384Ser) | |
5 | g.13735839A>T | CA359224601 | DNAH5 | c.11549T>A (p.Leu3850Ter) c.11504T>A (p.Leu3835Ter) c.11657T>A (p.Leu3886Ter) c.10562T>A (p.Leu3521Ter) c.11413T>A (p.Tyr3805Asn) c.6746T>A (p.Leu2249Ter) c.6299T>A (p.Leu2100Ter) c.5636T>A (p.Leu1879Ter) c.10151T>A (p.Leu3384Ter) | |
5 | g.13735840A>C | CA359224604 | DNAH5 | c.11548T>G (p.Leu3850Val) c.11503T>G (p.Leu3835Val) c.11656T>G (p.Leu3886Val) c.10561T>G (p.Leu3521Val) c.11412T>G (p.Ala3804=) c.6745T>G (p.Leu2249Val) c.6298T>G (p.Leu2100Val) c.5635T>G (p.Leu1879Val) c.10150T>G (p.Leu3384Val) | COSMIC |
5 | g.13735840A>G | CA443260278 | DNAH5 | c.11548T>C (p.Leu3850=) c.11503T>C (p.Leu3835=) c.11656T>C (p.Leu3886=) c.10561T>C (p.Leu3521=) c.11412T>C (p.Ala3804=) c.6745T>C (p.Leu2249=) c.6298T>C (p.Leu2100=) c.5635T>C (p.Leu1879=) c.10150T>C (p.Leu3384=) | |
5 | g.13735840A>T | CA359224602 | DNAH5 | c.11548T>A (p.Leu3850Ile) c.11503T>A (p.Leu3835Ile) c.11656T>A (p.Leu3886Ile) c.10561T>A (p.Leu3521Ile) c.11412T>A (p.Ala3804=) c.6745T>A (p.Leu2249Ile) c.6298T>A (p.Leu2100Ile) c.5635T>A (p.Leu1879Ile) c.10150T>A (p.Leu3384Ile) | |
5 | g.13735841G>A | CA3201930 | DNAH5 | c.11547C>T (p.Gly3849=) c.11502C>T (p.Gly3834=) c.11655C>T (p.Gly3885=) c.10560C>T (p.Gly3520=) c.11411C>T (p.Ala3804Val) c.6744C>T (p.Gly2248=) c.6297C>T (p.Gly2099=) c.5634C>T (p.Gly1878=) c.10149C>T (p.Gly3383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735841G>C | CA443260280 | DNAH5 | c.11547C>G (p.Gly3849=) c.11502C>G (p.Gly3834=) c.11655C>G (p.Gly3885=) c.10560C>G (p.Gly3520=) c.11411C>G (p.Ala3804Gly) c.6744C>G (p.Gly2248=) c.6297C>G (p.Gly2099=) c.5634C>G (p.Gly1878=) c.10149C>G (p.Gly3383=) | |
5 | g.13735841G= | CA1528415105 | DNAH5 | c.11547C= (p.Gly3849=) c.11502C= (p.Gly3834=) c.11655C= (p.Gly3885=) c.10560C= (p.Gly3520=) c.11411C= (p.Ala3804=) c.6744C= (p.Gly2248=) c.6297C= (p.Gly2099=) c.5634C= (p.Gly1878=) c.10149C= (p.Gly3383=) | |
5 | g.13735841G>T | CA443260282 | DNAH5 | c.11547C>A (p.Gly3849=) c.11502C>A (p.Gly3834=) c.11655C>A (p.Gly3885=) c.10560C>A (p.Gly3520=) c.11411C>A (p.Ala3804Asp) c.6744C>A (p.Gly2248=) c.6297C>A (p.Gly2099=) c.5634C>A (p.Gly1878=) c.10149C>A (p.Gly3383=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735842C>A | CA359224608 | DNAH5 | c.11546G>T (p.Gly3849Val) c.11501G>T (p.Gly3834Val) c.11654G>T (p.Gly3885Val) c.10559G>T (p.Gly3520Val) c.11410G>T (p.Ala3804Ser) c.6743G>T (p.Gly2248Val) c.6296G>T (p.Gly2099Val) c.5633G>T (p.Gly1878Val) c.10148G>T (p.Gly3383Val) | |
5 | g.13735842C= | CA1528415106 | DNAH5 | c.11546G= (p.Gly3849=) c.11501G= (p.Gly3834=) c.11654G= (p.Gly3885=) c.10559G= (p.Gly3520=) c.11410G= (p.Ala3804=) c.6743G= (p.Gly2248=) c.6296G= (p.Gly2099=) c.5633G= (p.Gly1878=) c.10148G= (p.Gly3383=) | |
5 | g.13735842C>G | CA359224615 | DNAH5 | c.11546G>C (p.Gly3849Ala) c.11501G>C (p.Gly3834Ala) c.11654G>C (p.Gly3885Ala) c.10559G>C (p.Gly3520Ala) c.11410G>C (p.Ala3804Pro) c.6743G>C (p.Gly2248Ala) c.6296G>C (p.Gly2099Ala) c.5633G>C (p.Gly1878Ala) c.10148G>C (p.Gly3383Ala) | |
5 | g.13735842C>T | CA359224617 | DNAH5 | c.11546G>A (p.Gly3849Asp) c.11501G>A (p.Gly3834Asp) c.11654G>A (p.Gly3885Asp) c.10559G>A (p.Gly3520Asp) c.11410G>A (p.Ala3804Thr) c.6743G>A (p.Gly2248Asp) c.6296G>A (p.Gly2099Asp) c.5633G>A (p.Gly1878Asp) c.10148G>A (p.Gly3383Asp) | ClinVar dbSNP gnomAD v4 |
5 | g.13735843C>A | CA359224619 | DNAH5 | c.11545G>T (p.Gly3849Cys) c.11500G>T (p.Gly3834Cys) c.11653G>T (p.Gly3885Cys) c.10558G>T (p.Gly3520Cys) c.11409G>T (p.Trp3803Cys) c.6742G>T (p.Gly2248Cys) c.6295G>T (p.Gly2099Cys) c.5632G>T (p.Gly1878Cys) c.10147G>T (p.Gly3383Cys) | COSMIC |
5 | g.13735843C= | CA1528415107 | DNAH5 | c.11545G= (p.Gly3849=) c.11500G= (p.Gly3834=) c.11653G= (p.Gly3885=) c.10558G= (p.Gly3520=) c.11409G= (p.Trp3803=) c.6742G= (p.Gly2248=) c.6295G= (p.Gly2099=) c.5632G= (p.Gly1878=) c.10147G= (p.Gly3383=) | |
5 | g.13735843C>G | CA359224621 | DNAH5 | c.11545G>C (p.Gly3849Arg) c.11500G>C (p.Gly3834Arg) c.11653G>C (p.Gly3885Arg) c.10558G>C (p.Gly3520Arg) c.11409G>C (p.Trp3803Cys) c.6742G>C (p.Gly2248Arg) c.6295G>C (p.Gly2099Arg) c.5632G>C (p.Gly1878Arg) c.10147G>C (p.Gly3383Arg) | |
5 | g.13735843C>T | CA359224624 | DNAH5 | c.11545G>A (p.Gly3849Ser) c.11500G>A (p.Gly3834Ser) c.11653G>A (p.Gly3885Ser) c.10558G>A (p.Gly3520Ser) c.11409G>A (p.Trp3803Ter) c.6742G>A (p.Gly2248Ser) c.6295G>A (p.Gly2099Ser) c.5632G>A (p.Gly1878Ser) c.10147G>A (p.Gly3383Ser) | dbSNP |
5 | g.13735844C>A | CA443260283 | DNAH5 | c.11544G>T (p.Leu3848=) c.11499G>T (p.Leu3833=) c.11652G>T (p.Leu3884=) c.10557G>T (p.Leu3519=) c.11408G>T (p.Trp3803Leu) c.6741G>T (p.Leu2247=) c.6294G>T (p.Leu2098=) c.5631G>T (p.Leu1877=) c.10146G>T (p.Leu3382=) | |
5 | g.13735844C>G | CA443260284 | DNAH5 | c.11544G>C (p.Leu3848=) c.11499G>C (p.Leu3833=) c.11652G>C (p.Leu3884=) c.10557G>C (p.Leu3519=) c.11408G>C (p.Trp3803Ser) c.6741G>C (p.Leu2247=) c.6294G>C (p.Leu2098=) c.5631G>C (p.Leu1877=) c.10146G>C (p.Leu3382=) | |
5 | g.13735844C>T | CA443260285 | DNAH5 | c.11544G>A (p.Leu3848=) c.11499G>A (p.Leu3833=) c.11652G>A (p.Leu3884=) c.10557G>A (p.Leu3519=) c.11408G>A (p.Trp3803Ter) c.6741G>A (p.Leu2247=) c.6294G>A (p.Leu2098=) c.5631G>A (p.Leu1877=) c.10146G>A (p.Leu3382=) | |
5 | g.13735845A= | CA1528415108 | DNAH5 | c.11543T= (p.Leu3848=) c.11498T= (p.Leu3833=) c.11651T= (p.Leu3884=) c.10556T= (p.Leu3519=) c.11407T= (p.Trp3803=) c.6740T= (p.Leu2247=) c.6293T= (p.Leu2098=) c.5630T= (p.Leu1877=) c.10145T= (p.Leu3382=) | |
5 | g.13735845A>C | CA359224626 | DNAH5 | c.11543T>G (p.Leu3848Arg) c.11498T>G (p.Leu3833Arg) c.11651T>G (p.Leu3884Arg) c.10556T>G (p.Leu3519Arg) c.11407T>G (p.Trp3803Gly) c.6740T>G (p.Leu2247Arg) c.6293T>G (p.Leu2098Arg) c.5630T>G (p.Leu1877Arg) c.10145T>G (p.Leu3382Arg) | dbSNP |
5 | g.13735845A>G | CA359224628 | DNAH5 | c.11543T>C (p.Leu3848Pro) c.11498T>C (p.Leu3833Pro) c.11651T>C (p.Leu3884Pro) c.10556T>C (p.Leu3519Pro) c.11407T>C (p.Trp3803Arg) c.6740T>C (p.Leu2247Pro) c.6293T>C (p.Leu2098Pro) c.5630T>C (p.Leu1877Pro) c.10145T>C (p.Leu3382Pro) | |
5 | g.13735845A>T | CA359224625 | DNAH5 | c.11543T>A (p.Leu3848Gln) c.11498T>A (p.Leu3833Gln) c.11651T>A (p.Leu3884Gln) c.10556T>A (p.Leu3519Gln) c.11407T>A (p.Trp3803Arg) c.6740T>A (p.Leu2247Gln) c.6293T>A (p.Leu2098Gln) c.5630T>A (p.Leu1877Gln) c.10145T>A (p.Leu3382Gln) | |
5 | g.13735846G>A | CA443260287 | DNAH5 | c.11542C>T (p.Leu3848=) c.11497C>T (p.Leu3833=) c.11650C>T (p.Leu3884=) c.10555C>T (p.Leu3519=) c.11406C>T (p.Phe3802=) c.6739C>T (p.Leu2247=) c.6292C>T (p.Leu2098=) c.5629C>T (p.Leu1877=) c.10144C>T (p.Leu3382=) | |
5 | g.13735846G>C | CA359224631 | DNAH5 | c.11542C>G (p.Leu3848Val) c.11497C>G (p.Leu3833Val) c.11650C>G (p.Leu3884Val) c.10555C>G (p.Leu3519Val) c.11406C>G (p.Phe3802Leu) c.6739C>G (p.Leu2247Val) c.6292C>G (p.Leu2098Val) c.5629C>G (p.Leu1877Val) c.10144C>G (p.Leu3382Val) | |
5 | g.13735846G>T | CA359224632 | DNAH5 | c.11542C>A (p.Leu3848Met) c.11497C>A (p.Leu3833Met) c.11650C>A (p.Leu3884Met) c.10555C>A (p.Leu3519Met) c.11406C>A (p.Phe3802Leu) c.6739C>A (p.Leu2247Met) c.6292C>A (p.Leu2098Met) c.5629C>A (p.Leu1877Met) c.10144C>A (p.Leu3382Met) | |
5 | g.13735847A>C | CA359224634 | DNAH5 | c.11541T>G (p.Phe3847Leu) c.11496T>G (p.Phe3832Leu) c.11649T>G (p.Phe3883Leu) c.10554T>G (p.Phe3518Leu) c.11405T>G (p.Phe3802Cys) c.6738T>G (p.Phe2246Leu) c.6291T>G (p.Phe2097Leu) c.5628T>G (p.Phe1876Leu) c.10143T>G (p.Phe3381Leu) | |
5 | g.13735847A>G | CA443260288 | DNAH5 | c.11541T>C (p.Phe3847=) c.11496T>C (p.Phe3832=) c.11649T>C (p.Phe3883=) c.10554T>C (p.Phe3518=) c.11405T>C (p.Phe3802Ser) c.6738T>C (p.Phe2246=) c.6291T>C (p.Phe2097=) c.5628T>C (p.Phe1876=) c.10143T>C (p.Phe3381=) | |
5 | g.13735847A>T | CA359224635 | DNAH5 | c.11541T>A (p.Phe3847Leu) c.11496T>A (p.Phe3832Leu) c.11649T>A (p.Phe3883Leu) c.10554T>A (p.Phe3518Leu) c.11405T>A (p.Phe3802Tyr) c.6738T>A (p.Phe2246Leu) c.6291T>A (p.Phe2097Leu) c.5628T>A (p.Phe1876Leu) c.10143T>A (p.Phe3381Leu) | |
5 | g.13735848A>C | CA359224636 | DNAH5 | c.11540T>G (p.Phe3847Cys) c.11495T>G (p.Phe3832Cys) c.11648T>G (p.Phe3883Cys) c.10553T>G (p.Phe3518Cys) c.11404T>G (p.Phe3802Val) c.6737T>G (p.Phe2246Cys) c.6290T>G (p.Phe2097Cys) c.5627T>G (p.Phe1876Cys) c.10142T>G (p.Phe3381Cys) | |
5 | g.13735848A>G | CA359224637 | DNAH5 | c.11540T>C (p.Phe3847Ser) c.11495T>C (p.Phe3832Ser) c.11648T>C (p.Phe3883Ser) c.10553T>C (p.Phe3518Ser) c.11404T>C (p.Phe3802Leu) c.6737T>C (p.Phe2246Ser) c.6290T>C (p.Phe2097Ser) c.5627T>C (p.Phe1876Ser) c.10142T>C (p.Phe3381Ser) | |
5 | g.13735848A>T | CA359224639 | DNAH5 | c.11540T>A (p.Phe3847Tyr) c.11495T>A (p.Phe3832Tyr) c.11648T>A (p.Phe3883Tyr) c.10553T>A (p.Phe3518Tyr) c.11404T>A (p.Phe3802Ile) c.6737T>A (p.Phe2246Tyr) c.6290T>A (p.Phe2097Tyr) c.5627T>A (p.Phe1876Tyr) c.10142T>A (p.Phe3381Tyr) | |
5 | g.13735849A>C | CA359224649 | DNAH5 | c.11539T>G (p.Phe3847Val) c.11494T>G (p.Phe3832Val) c.11647T>G (p.Phe3883Val) c.10552T>G (p.Phe3518Val) c.11403T>G (p.Ser3801Arg) c.6736T>G (p.Phe2246Val) c.6289T>G (p.Phe2097Val) c.5626T>G (p.Phe1876Val) c.10141T>G (p.Phe3381Val) | |
5 | g.13735849A>G | CA359224656 | DNAH5 | c.11539T>C (p.Phe3847Leu) c.11494T>C (p.Phe3832Leu) c.11647T>C (p.Phe3883Leu) c.10552T>C (p.Phe3518Leu) c.11403T>C (p.Ser3801=) c.6736T>C (p.Phe2246Leu) c.6289T>C (p.Phe2097Leu) c.5626T>C (p.Phe1876Leu) c.10141T>C (p.Phe3381Leu) | |
5 | g.13735849A>T | CA359224654 | DNAH5 | c.11539T>A (p.Phe3847Ile) c.11494T>A (p.Phe3832Ile) c.11647T>A (p.Phe3883Ile) c.10552T>A (p.Phe3518Ile) c.11403T>A (p.Ser3801Arg) c.6736T>A (p.Phe2246Ile) c.6289T>A (p.Phe2097Ile) c.5626T>A (p.Phe1876Ile) c.10141T>A (p.Phe3381Ile) | |
5 | g.13735850C>A | CA359224658 | DNAH5 | c.11538G>T (p.Gln3846His) c.11493G>T (p.Gln3831His) c.11646G>T (p.Gln3882His) c.10551G>T (p.Gln3517His) c.11402G>T (p.Ser3801Ile) c.6735G>T (p.Gln2245His) c.6288G>T (p.Gln2096His) c.5625G>T (p.Gln1875His) c.10140G>T (p.Gln3380His) | |
5 | g.13735850C= | CA1528415109 | DNAH5 | c.11538G= (p.Gln3846=) c.11493G= (p.Gln3831=) c.11646G= (p.Gln3882=) c.10551G= (p.Gln3517=) c.11402G= (p.Ser3801=) c.6735G= (p.Gln2245=) c.6288G= (p.Gln2096=) c.5625G= (p.Gln1875=) c.10140G= (p.Gln3380=) | |
5 | g.13735850C>G | CA359224659 | DNAH5 | c.11538G>C (p.Gln3846His) c.11493G>C (p.Gln3831His) c.11646G>C (p.Gln3882His) c.10551G>C (p.Gln3517His) c.11402G>C (p.Ser3801Thr) c.6735G>C (p.Gln2245His) c.6288G>C (p.Gln2096His) c.5625G>C (p.Gln1875His) c.10140G>C (p.Gln3380His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735850C>T | CA443260290 | DNAH5 | c.11538G>A (p.Gln3846=) c.11493G>A (p.Gln3831=) c.11646G>A (p.Gln3882=) c.10551G>A (p.Gln3517=) c.11402G>A (p.Ser3801Asn) c.6735G>A (p.Gln2245=) c.6288G>A (p.Gln2096=) c.5625G>A (p.Gln1875=) c.10140G>A (p.Gln3380=) | |
5 | g.13735851T>A | CA359224662 | DNAH5 | c.11537A>T (p.Gln3846Leu) c.11492A>T (p.Gln3831Leu) c.11645A>T (p.Gln3882Leu) c.10550A>T (p.Gln3517Leu) c.11401A>T (p.Ser3801Cys) c.6734A>T (p.Gln2245Leu) c.6287A>T (p.Gln2096Leu) c.5624A>T (p.Gln1875Leu) c.10139A>T (p.Gln3380Leu) | |
5 | g.13735851T>C | CA359224664 | DNAH5 | c.11537A>G (p.Gln3846Arg) c.11492A>G (p.Gln3831Arg) c.11645A>G (p.Gln3882Arg) c.10550A>G (p.Gln3517Arg) c.11401A>G (p.Ser3801Gly) c.6734A>G (p.Gln2245Arg) c.6287A>G (p.Gln2096Arg) c.5624A>G (p.Gln1875Arg) c.10139A>G (p.Gln3380Arg) | gnomAD v4 |
5 | g.13735851T>G | CA3201931 | DNAH5 | c.11537A>C (p.Gln3846Pro) c.11492A>C (p.Gln3831Pro) c.11645A>C (p.Gln3882Pro) c.10550A>C (p.Gln3517Pro) c.11401A>C (p.Ser3801Arg) c.6734A>C (p.Gln2245Pro) c.6287A>C (p.Gln2096Pro) c.5624A>C (p.Gln1875Pro) c.10139A>C (p.Gln3380Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735851T= | CA1528415110 | DNAH5 | c.11537A= (p.Gln3846=) c.11492A= (p.Gln3831=) c.11645A= (p.Gln3882=) c.10550A= (p.Gln3517=) c.11401A= (p.Ser3801=) c.6734A= (p.Gln2245=) c.6287A= (p.Gln2096=) c.5624A= (p.Gln1875=) c.10139A= (p.Gln3380=) | |
5 | g.13735852G>A | CA359224668 | DNAH5 | c.11536C>T (p.Gln3846Ter) c.11491C>T (p.Gln3831Ter) c.11644C>T (p.Gln3882Ter) c.10549C>T (p.Gln3517Ter) c.11400C>T (p.Ala3800=) c.6733C>T (p.Gln2245Ter) c.6286C>T (p.Gln2096Ter) c.5623C>T (p.Gln1875Ter) c.10138C>T (p.Gln3380Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735852G>C | CA359224672 | DNAH5 | c.11536C>G (p.Gln3846Glu) c.11491C>G (p.Gln3831Glu) c.11644C>G (p.Gln3882Glu) c.10549C>G (p.Gln3517Glu) c.11400C>G (p.Ala3800=) c.6733C>G (p.Gln2245Glu) c.6286C>G (p.Gln2096Glu) c.5623C>G (p.Gln1875Glu) c.10138C>G (p.Gln3380Glu) | |
5 | g.13735852G= | CA1528415111 | DNAH5 | c.11536C= (p.Gln3846=) c.11491C= (p.Gln3831=) c.11644C= (p.Gln3882=) c.10549C= (p.Gln3517=) c.11400C= (p.Ala3800=) c.6733C= (p.Gln2245=) c.6286C= (p.Gln2096=) c.5623C= (p.Gln1875=) c.10138C= (p.Gln3380=) | |
5 | g.13735852G>T | CA359224669 | DNAH5 | c.11536C>A (p.Gln3846Lys) c.11491C>A (p.Gln3831Lys) c.11644C>A (p.Gln3882Lys) c.10549C>A (p.Gln3517Lys) c.11400C>A (p.Ala3800=) c.6733C>A (p.Gln2245Lys) c.6286C>A (p.Gln2096Lys) c.5623C>A (p.Gln1875Lys) c.10138C>A (p.Gln3380Lys) | |
5 | g.13735853G>A | CA443260291 | DNAH5 | c.11535C>T (p.Arg3845=) c.11490C>T (p.Arg3830=) c.11643C>T (p.Arg3881=) c.10548C>T (p.Arg3516=) c.11399C>T (p.Ala3800Val) c.6732C>T (p.Arg2244=) c.6285C>T (p.Arg2095=) c.5622C>T (p.Arg1874=) c.10137C>T (p.Arg3379=) | |
5 | g.13735853G>C | CA443260292 | DNAH5 | c.11535C>G (p.Arg3845=) c.11490C>G (p.Arg3830=) c.11643C>G (p.Arg3881=) c.10548C>G (p.Arg3516=) c.11399C>G (p.Ala3800Gly) c.6732C>G (p.Arg2244=) c.6285C>G (p.Arg2095=) c.5622C>G (p.Arg1874=) c.10137C>G (p.Arg3379=) | |
5 | g.13735853G>T | CA443260293 | DNAH5 | c.11535C>A (p.Arg3845=) c.11490C>A (p.Arg3830=) c.11643C>A (p.Arg3881=) c.10548C>A (p.Arg3516=) c.11399C>A (p.Ala3800Asp) c.6732C>A (p.Arg2244=) c.6285C>A (p.Arg2095=) c.5622C>A (p.Arg1874=) c.10137C>A (p.Arg3379=) | |
5 | g.13735854C>A | CA359224674 | DNAH5 | c.11534G>T (p.Arg3845Leu) c.11489G>T (p.Arg3830Leu) c.11642G>T (p.Arg3881Leu) c.10547G>T (p.Arg3516Leu) c.11398G>T (p.Ala3800Ser) c.6731G>T (p.Arg2244Leu) c.6284G>T (p.Arg2095Leu) c.5621G>T (p.Arg1874Leu) c.10136G>T (p.Arg3379Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735854C= | CA1528415112 | DNAH5 | c.11534G= (p.Arg3845=) c.11489G= (p.Arg3830=) c.11642G= (p.Arg3881=) c.10547G= (p.Arg3516=) c.11398G= (p.Ala3800=) c.6731G= (p.Arg2244=) c.6284G= (p.Arg2095=) c.5621G= (p.Arg1874=) c.10136G= (p.Arg3379=) | |
5 | g.13735854C>G | CA359224676 | DNAH5 | c.11534G>C (p.Arg3845Pro) c.11489G>C (p.Arg3830Pro) c.11642G>C (p.Arg3881Pro) c.10547G>C (p.Arg3516Pro) c.11398G>C (p.Ala3800Pro) c.6731G>C (p.Arg2244Pro) c.6284G>C (p.Arg2095Pro) c.5621G>C (p.Arg1874Pro) c.10136G>C (p.Arg3379Pro) | |
5 | g.13735854C>T | CA359224679 | DNAH5 | c.11534G>A (p.Arg3845His) c.11489G>A (p.Arg3830His) c.11642G>A (p.Arg3881His) c.10547G>A (p.Arg3516His) c.11398G>A (p.Ala3800Thr) c.6731G>A (p.Arg2244His) c.6284G>A (p.Arg2095His) c.5621G>A (p.Arg1874His) c.10136G>A (p.Arg3379His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735855G>A | CA3201932 | DNAH5 | c.11533C>T (p.Arg3845Cys) c.11488C>T (p.Arg3830Cys) c.11641C>T (p.Arg3881Cys) c.10546C>T (p.Arg3516Cys) c.11397C>T (p.Phe3799=) c.6730C>T (p.Arg2244Cys) c.6283C>T (p.Arg2095Cys) c.5620C>T (p.Arg1874Cys) c.10135C>T (p.Arg3379Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735855G>C | CA359224684 | DNAH5 | c.11533C>G (p.Arg3845Gly) c.11488C>G (p.Arg3830Gly) c.11641C>G (p.Arg3881Gly) c.10546C>G (p.Arg3516Gly) c.11397C>G (p.Phe3799Leu) c.6730C>G (p.Arg2244Gly) c.6283C>G (p.Arg2095Gly) c.5620C>G (p.Arg1874Gly) c.10135C>G (p.Arg3379Gly) | |
5 | g.13735855G= | CA1528415113 | DNAH5 | c.11533C= (p.Arg3845=) c.11488C= (p.Arg3830=) c.11641C= (p.Arg3881=) c.10546C= (p.Arg3516=) c.11397C= (p.Phe3799=) c.6730C= (p.Arg2244=) c.6283C= (p.Arg2095=) c.5620C= (p.Arg1874=) c.10135C= (p.Arg3379=) | |
5 | g.13735855G>T | CA359224686 | DNAH5 | c.11533C>A (p.Arg3845Ser) c.11488C>A (p.Arg3830Ser) c.11641C>A (p.Arg3881Ser) c.10546C>A (p.Arg3516Ser) c.11397C>A (p.Phe3799Leu) c.6730C>A (p.Arg2244Ser) c.6283C>A (p.Arg2095Ser) c.5620C>A (p.Arg1874Ser) c.10135C>A (p.Arg3379Ser) | |
5 | g.13735856A>C | CA443260297 | DNAH5 | c.11532T>G (p.Leu3844=) c.11487T>G (p.Leu3829=) c.11640T>G (p.Leu3880=) c.10545T>G (p.Leu3515=) c.11396T>G (p.Phe3799Cys) c.6729T>G (p.Leu2243=) c.6282T>G (p.Leu2094=) c.5619T>G (p.Leu1873=) c.10134T>G (p.Leu3378=) | |
5 | g.13735856A>G | CA443260299 | DNAH5 | c.11532T>C (p.Leu3844=) c.11487T>C (p.Leu3829=) c.11640T>C (p.Leu3880=) c.10545T>C (p.Leu3515=) c.11396T>C (p.Phe3799Ser) c.6729T>C (p.Leu2243=) c.6282T>C (p.Leu2094=) c.5619T>C (p.Leu1873=) c.10134T>C (p.Leu3378=) | |
5 | g.13735856A>T | CA443260298 | DNAH5 | c.11532T>A (p.Leu3844=) c.11487T>A (p.Leu3829=) c.11640T>A (p.Leu3880=) c.10545T>A (p.Leu3515=) c.11396T>A (p.Phe3799Tyr) c.6729T>A (p.Leu2243=) c.6282T>A (p.Leu2094=) c.5619T>A (p.Leu1873=) c.10134T>A (p.Leu3378=) | |
5 | g.13735857A>C | CA359224687 | DNAH5 | c.11531T>G (p.Leu3844Arg) c.11486T>G (p.Leu3829Arg) c.11639T>G (p.Leu3880Arg) c.10544T>G (p.Leu3515Arg) c.11395T>G (p.Phe3799Val) c.6728T>G (p.Leu2243Arg) c.6281T>G (p.Leu2094Arg) c.5618T>G (p.Leu1873Arg) c.10133T>G (p.Leu3378Arg) | |
5 | g.13735857A>G | CA359224688 | DNAH5 | c.11531T>C (p.Leu3844Pro) c.11486T>C (p.Leu3829Pro) c.11639T>C (p.Leu3880Pro) c.10544T>C (p.Leu3515Pro) c.11395T>C (p.Phe3799Leu) c.6728T>C (p.Leu2243Pro) c.6281T>C (p.Leu2094Pro) c.5618T>C (p.Leu1873Pro) c.10133T>C (p.Leu3378Pro) | |
5 | g.13735857A>T | CA359224689 | DNAH5 | c.11531T>A (p.Leu3844His) c.11486T>A (p.Leu3829His) c.11639T>A (p.Leu3880His) c.10544T>A (p.Leu3515His) c.11395T>A (p.Phe3799Ile) c.6728T>A (p.Leu2243His) c.6281T>A (p.Leu2094His) c.5618T>A (p.Leu1873His) c.10133T>A (p.Leu3378His) | |
5 | g.13735858G>A | CA359224691 | DNAH5 | c.11530C>T (p.Leu3844Phe) c.11485C>T (p.Leu3829Phe) c.11638C>T (p.Leu3880Phe) c.10543C>T (p.Leu3515Phe) c.11394C>T (p.Arg3798=) c.6727C>T (p.Leu2243Phe) c.6280C>T (p.Leu2094Phe) c.5617C>T (p.Leu1873Phe) c.10132C>T (p.Leu3378Phe) | |
5 | g.13735858G>C | CA359224693 | DNAH5 | c.11530C>G (p.Leu3844Val) c.11485C>G (p.Leu3829Val) c.11638C>G (p.Leu3880Val) c.10543C>G (p.Leu3515Val) c.11394C>G (p.Arg3798=) c.6727C>G (p.Leu2243Val) c.6280C>G (p.Leu2094Val) c.5617C>G (p.Leu1873Val) c.10132C>G (p.Leu3378Val) | |
5 | g.13735858G>T | CA359224695 | DNAH5 | c.11530C>A (p.Leu3844Ile) c.11485C>A (p.Leu3829Ile) c.11638C>A (p.Leu3880Ile) c.10543C>A (p.Leu3515Ile) c.11394C>A (p.Arg3798=) c.6727C>A (p.Leu2243Ile) c.6280C>A (p.Leu2094Ile) c.5617C>A (p.Leu1873Ile) c.10132C>A (p.Leu3378Ile) | |
5 | g.13735859C>A | CA113927538 | DNAH5 | c.11529G>T (p.Ser3843=) c.11484G>T (p.Ser3828=) c.11637G>T (p.Ser3879=) c.10542G>T (p.Ser3514=) c.11393G>T (p.Arg3798Leu) c.6726G>T (p.Ser2242=) c.6279G>T (p.Ser2093=) c.5616G>T (p.Ser1872=) c.10131G>T (p.Ser3377=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735859C= | CA1528415114 | DNAH5 | c.11529G= (p.Ser3843=) c.11484G= (p.Ser3828=) c.11637G= (p.Ser3879=) c.10542G= (p.Ser3514=) c.11393G= (p.Arg3798=) c.6726G= (p.Ser2242=) c.6279G= (p.Ser2093=) c.5616G= (p.Ser1872=) c.10131G= (p.Ser3377=) | |
5 | g.13735859C>G | CA443260302 | DNAH5 | c.11529G>C (p.Ser3843=) c.11484G>C (p.Ser3828=) c.11637G>C (p.Ser3879=) c.10542G>C (p.Ser3514=) c.11393G>C (p.Arg3798Pro) c.6726G>C (p.Ser2242=) c.6279G>C (p.Ser2093=) c.5616G>C (p.Ser1872=) c.10131G>C (p.Ser3377=) | |
5 | g.13735859C>T | CA443260304 | DNAH5 | c.11529G>A (p.Ser3843=) c.11484G>A (p.Ser3828=) c.11637G>A (p.Ser3879=) c.10542G>A (p.Ser3514=) c.11393G>A (p.Arg3798His) c.6726G>A (p.Ser2242=) c.6279G>A (p.Ser2093=) c.5616G>A (p.Ser1872=) c.10131G>A (p.Ser3377=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735860G>A | CA3201933 | DNAH5 | c.11528C>T (p.Ser3843Leu) c.11483C>T (p.Ser3828Leu) c.11636C>T (p.Ser3879Leu) c.10541C>T (p.Ser3514Leu) c.11392C>T (p.Arg3798Cys) c.6725C>T (p.Ser2242Leu) c.6278C>T (p.Ser2093Leu) c.5615C>T (p.Ser1872Leu) c.10130C>T (p.Ser3377Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735860G>C | CA3201934 | DNAH5 | c.11528C>G (p.Ser3843Trp) c.11483C>G (p.Ser3828Trp) c.11636C>G (p.Ser3879Trp) c.10541C>G (p.Ser3514Trp) c.11392C>G (p.Arg3798Gly) c.6725C>G (p.Ser2242Trp) c.6278C>G (p.Ser2093Trp) c.5615C>G (p.Ser1872Trp) c.10130C>G (p.Ser3377Trp) | dbSNP ExAC gnomAD v2 |
5 | g.13735860G= | CA1528415115 | DNAH5 | c.11528C= (p.Ser3843=) c.11483C= (p.Ser3828=) c.11636C= (p.Ser3879=) c.10541C= (p.Ser3514=) c.11392C= (p.Arg3798=) c.6725C= (p.Ser2242=) c.6278C= (p.Ser2093=) c.5615C= (p.Ser1872=) c.10130C= (p.Ser3377=) | |
5 | g.13735860G>T | CA359224697 | DNAH5 | c.11528C>A (p.Ser3843Ter) c.11483C>A (p.Ser3828Ter) c.11636C>A (p.Ser3879Ter) c.10541C>A (p.Ser3514Ter) c.11392C>A (p.Arg3798Ser) c.6725C>A (p.Ser2242Ter) c.6278C>A (p.Ser2093Ter) c.5615C>A (p.Ser1872Ter) c.10130C>A (p.Ser3377Ter) | |
5 | g.13735861A>C | CA359224698 | DNAH5 | c.11527T>G (p.Ser3843Ala) c.11482T>G (p.Ser3828Ala) c.11635T>G (p.Ser3879Ala) c.10540T>G (p.Ser3514Ala) c.11391T>G (p.Leu3797=) c.6724T>G (p.Ser2242Ala) c.6277T>G (p.Ser2093Ala) c.5614T>G (p.Ser1872Ala) c.10129T>G (p.Ser3377Ala) | |
5 | g.13735861A>G | CA359224700 | DNAH5 | c.11527T>C (p.Ser3843Pro) c.11482T>C (p.Ser3828Pro) c.11635T>C (p.Ser3879Pro) c.10540T>C (p.Ser3514Pro) c.11391T>C (p.Leu3797=) c.6724T>C (p.Ser2242Pro) c.6277T>C (p.Ser2093Pro) c.5614T>C (p.Ser1872Pro) c.10129T>C (p.Ser3377Pro) | |
5 | g.13735861A>T | CA359224708 | DNAH5 | c.11527T>A (p.Ser3843Thr) c.11482T>A (p.Ser3828Thr) c.11635T>A (p.Ser3879Thr) c.10540T>A (p.Ser3514Thr) c.11391T>A (p.Leu3797=) c.6724T>A (p.Ser2242Thr) c.6277T>A (p.Ser2093Thr) c.5614T>A (p.Ser1872Thr) c.10129T>A (p.Ser3377Thr) | |
5 | g.13735862A= | CA1528415116 | DNAH5 | c.11526T= (p.Thr3842=) c.11481T= (p.Thr3827=) c.11634T= (p.Thr3878=) c.10539T= (p.Thr3513=) c.11390T= (p.Leu3797=) c.6723T= (p.Thr2241=) c.6276T= (p.Thr2092=) c.5613T= (p.Thr1871=) c.10128T= (p.Thr3376=) | |
5 | g.13735862A>C | CA443260306 | DNAH5 | c.11526T>G (p.Thr3842=) c.11481T>G (p.Thr3827=) c.11634T>G (p.Thr3878=) c.10539T>G (p.Thr3513=) c.11390T>G (p.Leu3797Arg) c.6723T>G (p.Thr2241=) c.6276T>G (p.Thr2092=) c.5613T>G (p.Thr1871=) c.10128T>G (p.Thr3376=) | gnomAD v4 |
5 | g.13735862A>G | CA443260307 | DNAH5 | c.11526T>C (p.Thr3842=) c.11481T>C (p.Thr3827=) c.11634T>C (p.Thr3878=) c.10539T>C (p.Thr3513=) c.11390T>C (p.Leu3797Pro) c.6723T>C (p.Thr2241=) c.6276T>C (p.Thr2092=) c.5613T>C (p.Thr1871=) c.10128T>C (p.Thr3376=) | |
5 | g.13735862A>T | CA443260308 | DNAH5 | c.11526T>A (p.Thr3842=) c.11481T>A (p.Thr3827=) c.11634T>A (p.Thr3878=) c.10539T>A (p.Thr3513=) c.11390T>A (p.Leu3797His) c.6723T>A (p.Thr2241=) c.6276T>A (p.Thr2092=) c.5613T>A (p.Thr1871=) c.10128T>A (p.Thr3376=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735863G>A | CA359224711 | DNAH5 | c.11525C>T (p.Thr3842Ile) c.11480C>T (p.Thr3827Ile) c.11633C>T (p.Thr3878Ile) c.10538C>T (p.Thr3513Ile) c.11389C>T (p.Leu3797Phe) c.6722C>T (p.Thr2241Ile) c.6275C>T (p.Thr2092Ile) c.5612C>T (p.Thr1871Ile) c.10127C>T (p.Thr3376Ile) | gnomAD v4 |
5 | g.13735863G>C | CA359224712 | DNAH5 | c.11525C>G (p.Thr3842Ser) c.11480C>G (p.Thr3827Ser) c.11633C>G (p.Thr3878Ser) c.10538C>G (p.Thr3513Ser) c.11389C>G (p.Leu3797Val) c.6722C>G (p.Thr2241Ser) c.6275C>G (p.Thr2092Ser) c.5612C>G (p.Thr1871Ser) c.10127C>G (p.Thr3376Ser) | |
5 | g.13735863G>T | CA359224713 | DNAH5 | c.11525C>A (p.Thr3842Asn) c.11480C>A (p.Thr3827Asn) c.11633C>A (p.Thr3878Asn) c.10538C>A (p.Thr3513Asn) c.11389C>A (p.Leu3797Ile) c.6722C>A (p.Thr2241Asn) c.6275C>A (p.Thr2092Asn) c.5612C>A (p.Thr1871Asn) c.10127C>A (p.Thr3376Asn) | |
5 | g.13735864T>A | CA359224719 | DNAH5 | c.11524A>T (p.Thr3842Ser) c.11479A>T (p.Thr3827Ser) c.11632A>T (p.Thr3878Ser) c.10537A>T (p.Thr3513Ser) c.11388A>T (p.Arg3796Ser) c.6721A>T (p.Thr2241Ser) c.6274A>T (p.Thr2092Ser) c.5611A>T (p.Thr1871Ser) c.10126A>T (p.Thr3376Ser) | |
5 | g.13735864T>C | CA359224715 | DNAH5 | c.11524A>G (p.Thr3842Ala) c.11479A>G (p.Thr3827Ala) c.11632A>G (p.Thr3878Ala) c.10537A>G (p.Thr3513Ala) c.11388A>G (p.Arg3796=) c.6721A>G (p.Thr2241Ala) c.6274A>G (p.Thr2092Ala) c.5611A>G (p.Thr1871Ala) c.10126A>G (p.Thr3376Ala) | |
5 | g.13735864T>G | CA359224717 | DNAH5 | c.11524A>C (p.Thr3842Pro) c.11479A>C (p.Thr3827Pro) c.11632A>C (p.Thr3878Pro) c.10537A>C (p.Thr3513Pro) c.11388A>C (p.Arg3796Ser) c.6721A>C (p.Thr2241Pro) c.6274A>C (p.Thr2092Pro) c.5611A>C (p.Thr1871Pro) c.10126A>C (p.Thr3376Pro) | |
5 | g.13735865C>A | CA359224726 | DNAH5 | c.11523G>T (p.Gln3841His) c.11478G>T (p.Gln3826His) c.11631G>T (p.Gln3877His) c.10536G>T (p.Gln3512His) c.11387G>T (p.Arg3796Ile) c.6720G>T (p.Gln2240His) c.6273G>T (p.Gln2091His) c.5610G>T (p.Gln1870His) c.10125G>T (p.Gln3375His) | |
5 | g.13735865C>G | CA359224731 | DNAH5 | c.11523G>C (p.Gln3841His) c.11478G>C (p.Gln3826His) c.11631G>C (p.Gln3877His) c.10536G>C (p.Gln3512His) c.11387G>C (p.Arg3796Thr) c.6720G>C (p.Gln2240His) c.6273G>C (p.Gln2091His) c.5610G>C (p.Gln1870His) c.10125G>C (p.Gln3375His) | |
5 | g.13735865C>T | CA443260309 | DNAH5 | c.11523G>A (p.Gln3841=) c.11478G>A (p.Gln3826=) c.11631G>A (p.Gln3877=) c.10536G>A (p.Gln3512=) c.11387G>A (p.Arg3796Lys) c.6720G>A (p.Gln2240=) c.6273G>A (p.Gln2091=) c.5610G>A (p.Gln1870=) c.10125G>A (p.Gln3375=) | |
5 | g.13735866T>A | CA359224736 | DNAH5 | c.11522A>T (p.Gln3841Leu) c.11477A>T (p.Gln3826Leu) c.11630A>T (p.Gln3877Leu) c.10535A>T (p.Gln3512Leu) c.11386A>T (p.Arg3796Ter) c.6719A>T (p.Gln2240Leu) c.6272A>T (p.Gln2091Leu) c.5609A>T (p.Gln1870Leu) c.10124A>T (p.Gln3375Leu) | |
5 | g.13735866T>C | CA359224747 | DNAH5 | c.11522A>G (p.Gln3841Arg) c.11477A>G (p.Gln3826Arg) c.11630A>G (p.Gln3877Arg) c.10535A>G (p.Gln3512Arg) c.11386A>G (p.Arg3796Gly) c.6719A>G (p.Gln2240Arg) c.6272A>G (p.Gln2091Arg) c.5609A>G (p.Gln1870Arg) c.10124A>G (p.Gln3375Arg) | |
5 | g.13735866T>G | CA359224750 | DNAH5 | c.11522A>C (p.Gln3841Pro) c.11477A>C (p.Gln3826Pro) c.11630A>C (p.Gln3877Pro) c.10535A>C (p.Gln3512Pro) c.11386A>C (p.Arg3796=) c.6719A>C (p.Gln2240Pro) c.6272A>C (p.Gln2091Pro) c.5609A>C (p.Gln1870Pro) c.10124A>C (p.Gln3375Pro) | |
5 | g.13735867G>A | CA359224759 | DNAH5 | c.11521C>T (p.Gln3841Ter) c.11476C>T (p.Gln3826Ter) c.11629C>T (p.Gln3877Ter) c.10534C>T (p.Gln3512Ter) c.11385C>T (p.Ile3795=) c.6718C>T (p.Gln2240Ter) c.6271C>T (p.Gln2091Ter) c.5608C>T (p.Gln1870Ter) c.10123C>T (p.Gln3375Ter) | |
5 | g.13735867G>C | CA359224763 | DNAH5 | c.11521C>G (p.Gln3841Glu) c.11476C>G (p.Gln3826Glu) c.11629C>G (p.Gln3877Glu) c.10534C>G (p.Gln3512Glu) c.11385C>G (p.Ile3795Met) c.6718C>G (p.Gln2240Glu) c.6271C>G (p.Gln2091Glu) c.5608C>G (p.Gln1870Glu) c.10123C>G (p.Gln3375Glu) | |
5 | g.13735867G>T | CA359224761 | DNAH5 | c.11521C>A (p.Gln3841Lys) c.11476C>A (p.Gln3826Lys) c.11629C>A (p.Gln3877Lys) c.10534C>A (p.Gln3512Lys) c.11385C>A (p.Ile3795=) c.6718C>A (p.Gln2240Lys) c.6271C>A (p.Gln2091Lys) c.5608C>A (p.Gln1870Lys) c.10123C>A (p.Gln3375Lys) | |
5 | g.13735868A>C | CA359224764 | DNAH5 | c.11520T>G (p.Tyr3840Ter) c.11475T>G (p.Tyr3825Ter) c.11628T>G (p.Tyr3876Ter) c.10533T>G (p.Tyr3511Ter) c.11384T>G (p.Ile3795Ser) c.6717T>G (p.Tyr2239Ter) c.6270T>G (p.Tyr2090Ter) c.5607T>G (p.Tyr1869Ter) c.10122T>G (p.Tyr3374Ter) | |
5 | g.13735868A>G | CA443260310 | DNAH5 | c.11520T>C (p.Tyr3840=) c.11475T>C (p.Tyr3825=) c.11628T>C (p.Tyr3876=) c.10533T>C (p.Tyr3511=) c.11384T>C (p.Ile3795Thr) c.6717T>C (p.Tyr2239=) c.6270T>C (p.Tyr2090=) c.5607T>C (p.Tyr1869=) c.10122T>C (p.Tyr3374=) | |
5 | g.13735868A>T | CA359224765 | DNAH5 | c.11520T>A (p.Tyr3840Ter) c.11475T>A (p.Tyr3825Ter) c.11628T>A (p.Tyr3876Ter) c.10533T>A (p.Tyr3511Ter) c.11384T>A (p.Ile3795Asn) c.6717T>A (p.Tyr2239Ter) c.6270T>A (p.Tyr2090Ter) c.5607T>A (p.Tyr1869Ter) c.10122T>A (p.Tyr3374Ter) | |
5 | g.13735869T>A | CA359224767 | DNAH5 | c.11519A>T (p.Tyr3840Phe) c.11474A>T (p.Tyr3825Phe) c.11627A>T (p.Tyr3876Phe) c.10532A>T (p.Tyr3511Phe) c.11383A>T (p.Ile3795Phe) c.6716A>T (p.Tyr2239Phe) c.6269A>T (p.Tyr2090Phe) c.5606A>T (p.Tyr1869Phe) c.10121A>T (p.Tyr3374Phe) | |
5 | g.13735869T>C | CA3201935 | DNAH5 | c.11519A>G (p.Tyr3840Cys) c.11474A>G (p.Tyr3825Cys) c.11627A>G (p.Tyr3876Cys) c.10532A>G (p.Tyr3511Cys) c.11383A>G (p.Ile3795Val) c.6716A>G (p.Tyr2239Cys) c.6269A>G (p.Tyr2090Cys) c.5606A>G (p.Tyr1869Cys) c.10121A>G (p.Tyr3374Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735869T>G | CA359224770 | DNAH5 | c.11519A>C (p.Tyr3840Ser) c.11474A>C (p.Tyr3825Ser) c.11627A>C (p.Tyr3876Ser) c.10532A>C (p.Tyr3511Ser) c.11383A>C (p.Ile3795Leu) c.6716A>C (p.Tyr2239Ser) c.6269A>C (p.Tyr2090Ser) c.5606A>C (p.Tyr1869Ser) c.10121A>C (p.Tyr3374Ser) | |
5 | g.13735869T= | CA1528415117 | DNAH5 | c.11519A= (p.Tyr3840=) c.11474A= (p.Tyr3825=) c.11627A= (p.Tyr3876=) c.10532A= (p.Tyr3511=) c.11383A= (p.Ile3795=) c.6716A= (p.Tyr2239=) c.6269A= (p.Tyr2090=) c.5606A= (p.Tyr1869=) c.10121A= (p.Tyr3374=) | |
5 | g.13735870A= | CA1528415118 | DNAH5 | c.11518T= (p.Tyr3840=) c.11473T= (p.Tyr3825=) c.11626T= (p.Tyr3876=) c.10531T= (p.Tyr3511=) c.11382T= (p.Cys3794=) c.6715T= (p.Tyr2239=) c.6268T= (p.Tyr2090=) c.5605T= (p.Tyr1869=) c.10120T= (p.Tyr3374=) | |
5 | g.13735870A>C | CA359224792 | DNAH5 | c.11518T>G (p.Tyr3840Asp) c.11473T>G (p.Tyr3825Asp) c.11626T>G (p.Tyr3876Asp) c.10531T>G (p.Tyr3511Asp) c.11382T>G (p.Cys3794Trp) c.6715T>G (p.Tyr2239Asp) c.6268T>G (p.Tyr2090Asp) c.5605T>G (p.Tyr1869Asp) c.10120T>G (p.Tyr3374Asp) | |
5 | g.13735870A>G | CA359224795 | DNAH5 | c.11518T>C (p.Tyr3840His) c.11473T>C (p.Tyr3825His) c.11626T>C (p.Tyr3876His) c.10531T>C (p.Tyr3511His) c.11382T>C (p.Cys3794=) c.6715T>C (p.Tyr2239His) c.6268T>C (p.Tyr2090His) c.5605T>C (p.Tyr1869His) c.10120T>C (p.Tyr3374His) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735870A>T | CA359224804 | DNAH5 | c.11518T>A (p.Tyr3840Asn) c.11473T>A (p.Tyr3825Asn) c.11626T>A (p.Tyr3876Asn) c.10531T>A (p.Tyr3511Asn) c.11382T>A (p.Cys3794Ter) c.6715T>A (p.Tyr2239Asn) c.6268T>A (p.Tyr2090Asn) c.5605T>A (p.Tyr1869Asn) c.10120T>A (p.Tyr3374Asn) | |
5 | g.13735871C>A | CA359224806 | DNAH5 | c.11517G>T (p.Met3839Ile) c.11472G>T (p.Met3824Ile) c.11625G>T (p.Met3875Ile) c.10530G>T (p.Met3510Ile) c.11381G>T (p.Cys3794Phe) c.6714G>T (p.Met2238Ile) c.6267G>T (p.Met2089Ile) c.5604G>T (p.Met1868Ile) c.10119G>T (p.Met3373Ile) | |
5 | g.13735871C>G | CA359224807 | DNAH5 | c.11517G>C (p.Met3839Ile) c.11472G>C (p.Met3824Ile) c.11625G>C (p.Met3875Ile) c.10530G>C (p.Met3510Ile) c.11381G>C (p.Cys3794Ser) c.6714G>C (p.Met2238Ile) c.6267G>C (p.Met2089Ile) c.5604G>C (p.Met1868Ile) c.10119G>C (p.Met3373Ile) | gnomAD v4 |
5 | g.13735871C>T | CA359224808 | DNAH5 | c.11517G>A (p.Met3839Ile) c.11472G>A (p.Met3824Ile) c.11625G>A (p.Met3875Ile) c.10530G>A (p.Met3510Ile) c.11381G>A (p.Cys3794Tyr) c.6714G>A (p.Met2238Ile) c.6267G>A (p.Met2089Ile) c.5604G>A (p.Met1868Ile) c.10119G>A (p.Met3373Ile) | |
5 | g.13735872A>C | CA359224813 | DNAH5 | c.11516T>G (p.Met3839Arg) c.11471T>G (p.Met3824Arg) c.11624T>G (p.Met3875Arg) c.10529T>G (p.Met3510Arg) c.11380T>G (p.Cys3794Gly) c.6713T>G (p.Met2238Arg) c.6266T>G (p.Met2089Arg) c.5603T>G (p.Met1868Arg) c.10118T>G (p.Met3373Arg) | |
5 | g.13735872A>G | CA359224815 | DNAH5 | c.11516T>C (p.Met3839Thr) c.11471T>C (p.Met3824Thr) c.11624T>C (p.Met3875Thr) c.10529T>C (p.Met3510Thr) c.11380T>C (p.Cys3794Arg) c.6713T>C (p.Met2238Thr) c.6266T>C (p.Met2089Thr) c.5603T>C (p.Met1868Thr) c.10118T>C (p.Met3373Thr) | gnomAD v4 |
5 | g.13735872A>T | CA359224811 | DNAH5 | c.11516T>A (p.Met3839Lys) c.11471T>A (p.Met3824Lys) c.11624T>A (p.Met3875Lys) c.10529T>A (p.Met3510Lys) c.11380T>A (p.Cys3794Ser) c.6713T>A (p.Met2238Lys) c.6266T>A (p.Met2089Lys) c.5603T>A (p.Met1868Lys) c.10118T>A (p.Met3373Lys) | |
5 | g.13735873T>A | CA359224825 | DNAH5 | c.11515A>T (p.Met3839Leu) c.11470A>T (p.Met3824Leu) c.11623A>T (p.Met3875Leu) c.10528A>T (p.Met3510Leu) c.11379A>T (p.Arg3793Ser) c.6712A>T (p.Met2238Leu) c.6265A>T (p.Met2089Leu) c.5602A>T (p.Met1868Leu) c.10117A>T (p.Met3373Leu) | |
5 | g.13735873T>C | CA359224819 | DNAH5 | c.11515A>G (p.Met3839Val) c.11470A>G (p.Met3824Val) c.11623A>G (p.Met3875Val) c.10528A>G (p.Met3510Val) c.11379A>G (p.Arg3793=) c.6712A>G (p.Met2238Val) c.6265A>G (p.Met2089Val) c.5602A>G (p.Met1868Val) c.10117A>G (p.Met3373Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13735873T>G | CA359224828 | DNAH5 | c.11515A>C (p.Met3839Leu) c.11470A>C (p.Met3824Leu) c.11623A>C (p.Met3875Leu) c.10528A>C (p.Met3510Leu) c.11379A>C (p.Arg3793Ser) c.6712A>C (p.Met2238Leu) c.6265A>C (p.Met2089Leu) c.5602A>C (p.Met1868Leu) c.10117A>C (p.Met3373Leu) | |
5 | g.13735873T= | CA1528415119 | DNAH5 | c.11515A= (p.Met3839=) c.11470A= (p.Met3824=) c.11623A= (p.Met3875=) c.10528A= (p.Met3510=) c.11379A= (p.Arg3793=) c.6712A= (p.Met2238=) c.6265A= (p.Met2089=) c.5602A= (p.Met1868=) c.10117A= (p.Met3373=) | |
5 | g.13735874C>A | CA359224832 | DNAH5 | c.11514G>T (p.Glu3838Asp) c.11469G>T (p.Glu3823Asp) c.11622G>T (p.Glu3874Asp) c.10527G>T (p.Glu3509Asp) c.11378G>T (p.Arg3793Ile) c.6711G>T (p.Glu2237Asp) c.6264G>T (p.Glu2088Asp) c.5601G>T (p.Glu1867Asp) c.10116G>T (p.Glu3372Asp) | dbSNP |
5 | g.13735874C= | CA1528415120 | DNAH5 | c.11514G= (p.Glu3838=) c.11469G= (p.Glu3823=) c.11622G= (p.Glu3874=) c.10527G= (p.Glu3509=) c.11378G= (p.Arg3793=) c.6711G= (p.Glu2237=) c.6264G= (p.Glu2088=) c.5601G= (p.Glu1867=) c.10116G= (p.Glu3372=) | |
5 | g.13735874C>G | CA359224847 | DNAH5 | c.11514G>C (p.Glu3838Asp) c.11469G>C (p.Glu3823Asp) c.11622G>C (p.Glu3874Asp) c.10527G>C (p.Glu3509Asp) c.11378G>C (p.Arg3793Thr) c.6711G>C (p.Glu2237Asp) c.6264G>C (p.Glu2088Asp) c.5601G>C (p.Glu1867Asp) c.10116G>C (p.Glu3372Asp) | |
5 | g.13735874C>T | CA443260314 | DNAH5 | c.11514G>A (p.Glu3838=) c.11469G>A (p.Glu3823=) c.11622G>A (p.Glu3874=) c.10527G>A (p.Glu3509=) c.11378G>A (p.Arg3793Lys) c.6711G>A (p.Glu2237=) c.6264G>A (p.Glu2088=) c.5601G>A (p.Glu1867=) c.10116G>A (p.Glu3372=) | COSMIC |
5 | g.13735875T>A | CA359224848 | DNAH5 | c.11513A>T (p.Glu3838Val) c.11468A>T (p.Glu3823Val) c.11621A>T (p.Glu3874Val) c.10526A>T (p.Glu3509Val) c.11377A>T (p.Arg3793Ter) c.6710A>T (p.Glu2237Val) c.6263A>T (p.Glu2088Val) c.5600A>T (p.Glu1867Val) c.10115A>T (p.Glu3372Val) | |
5 | g.13735875T>C | CA359224850 | DNAH5 | c.11513A>G (p.Glu3838Gly) c.11468A>G (p.Glu3823Gly) c.11621A>G (p.Glu3874Gly) c.10526A>G (p.Glu3509Gly) c.11377A>G (p.Arg3793Gly) c.6710A>G (p.Glu2237Gly) c.6263A>G (p.Glu2088Gly) c.5600A>G (p.Glu1867Gly) c.10115A>G (p.Glu3372Gly) | |
5 | g.13735875T>G | CA359224849 | DNAH5 | c.11513A>C (p.Glu3838Ala) c.11468A>C (p.Glu3823Ala) c.11621A>C (p.Glu3874Ala) c.10526A>C (p.Glu3509Ala) c.11377A>C (p.Arg3793=) c.6710A>C (p.Glu2237Ala) c.6263A>C (p.Glu2088Ala) c.5600A>C (p.Glu1867Ala) c.10115A>C (p.Glu3372Ala) | |
5 | g.13735876C>A | CA359224852 | DNAH5 | c.11512G>T (p.Glu3838Ter) c.11467G>T (p.Glu3823Ter) c.11620G>T (p.Glu3874Ter) c.10525G>T (p.Glu3509Ter) c.11376G>T (p.Met3792Ile) c.6709G>T (p.Glu2237Ter) c.6262G>T (p.Glu2088Ter) c.5599G>T (p.Glu1867Ter) c.10114G>T (p.Glu3372Ter) | |
5 | g.13735876C= | CA1528415121 | DNAH5 | c.11512G= (p.Glu3838=) c.11467G= (p.Glu3823=) c.11620G= (p.Glu3874=) c.10525G= (p.Glu3509=) c.11376G= (p.Met3792=) c.6709G= (p.Glu2237=) c.6262G= (p.Glu2088=) c.5599G= (p.Glu1867=) c.10114G= (p.Glu3372=) | |
5 | g.13735876C>G | CA359224854 | DNAH5 | c.11512G>C (p.Glu3838Gln) c.11467G>C (p.Glu3823Gln) c.11620G>C (p.Glu3874Gln) c.10525G>C (p.Glu3509Gln) c.11376G>C (p.Met3792Ile) c.6709G>C (p.Glu2237Gln) c.6262G>C (p.Glu2088Gln) c.5599G>C (p.Glu1867Gln) c.10114G>C (p.Glu3372Gln) | |
5 | g.13735876C>T | CA3201936 | DNAH5 | c.11512G>A (p.Glu3838Lys) c.11467G>A (p.Glu3823Lys) c.11620G>A (p.Glu3874Lys) c.10525G>A (p.Glu3509Lys) c.11376G>A (p.Met3792Ile) c.6709G>A (p.Glu2237Lys) c.6262G>A (p.Glu2088Lys) c.5599G>A (p.Glu1867Lys) c.10114G>A (p.Glu3372Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735879_13735891del | CA2573138435 | DNAH5 | c.11500_11512del (p.Leu3835CysfsTer17) c.11455_11467del (p.Leu3820CysfsTer17) c.11608_11620del (p.Leu3871CysfsTer17) c.10513_10525del (p.Leu3506CysfsTer17) c.11364_11376del (p.Cys3788Ter) c.6697_6709del (p.Leu2234CysfsTer17) c.6250_6262del (p.Leu2085CysfsTer17) c.5587_5599del (p.Leu1864CysfsTer17) c.10102_10114del (p.Leu3369CysfsTer17) | ClinVar dbSNP |
5 | g.13735877A>C | CA359224869 | DNAH5 | c.11511T>G (p.Asn3837Lys) c.11466T>G (p.Asn3822Lys) c.11619T>G (p.Asn3873Lys) c.10524T>G (p.Asn3508Lys) c.11375T>G (p.Met3792Arg) c.6708T>G (p.Asn2236Lys) c.6261T>G (p.Asn2087Lys) c.5598T>G (p.Asn1866Lys) c.10113T>G (p.Asn3371Lys) | dbSNP gnomAD v4 |
5 | g.13735877A>G | CA443260317 | DNAH5 | c.11511T>C (p.Asn3837=) c.11466T>C (p.Asn3822=) c.11619T>C (p.Asn3873=) c.10524T>C (p.Asn3508=) c.11375T>C (p.Met3792Thr) c.6708T>C (p.Asn2236=) c.6261T>C (p.Asn2087=) c.5598T>C (p.Asn1866=) c.10113T>C (p.Asn3371=) | |
5 | g.13735877A>T | CA359224875 | DNAH5 | c.11511T>A (p.Asn3837Lys) c.11466T>A (p.Asn3822Lys) c.11619T>A (p.Asn3873Lys) c.10524T>A (p.Asn3508Lys) c.11375T>A (p.Met3792Lys) c.6708T>A (p.Asn2236Lys) c.6261T>A (p.Asn2087Lys) c.5598T>A (p.Asn1866Lys) c.10113T>A (p.Asn3371Lys) | |
5 | g.13735878T>A | CA359224877 | DNAH5 | c.11510A>T (p.Asn3837Ile) c.11465A>T (p.Asn3822Ile) c.11618A>T (p.Asn3873Ile) c.10523A>T (p.Asn3508Ile) c.11374A>T (p.Met3792Leu) c.6707A>T (p.Asn2236Ile) c.6260A>T (p.Asn2087Ile) c.5597A>T (p.Asn1866Ile) c.10112A>T (p.Asn3371Ile) | |
5 | g.13735878T>C | CA359224884 | DNAH5 | c.11510A>G (p.Asn3837Ser) c.11465A>G (p.Asn3822Ser) c.11618A>G (p.Asn3873Ser) c.10523A>G (p.Asn3508Ser) c.11374A>G (p.Met3792Val) c.6707A>G (p.Asn2236Ser) c.6260A>G (p.Asn2087Ser) c.5597A>G (p.Asn1866Ser) c.10112A>G (p.Asn3371Ser) | gnomAD v4 |
5 | g.13735878T>G | CA359224885 | DNAH5 | c.11510A>C (p.Asn3837Thr) c.11465A>C (p.Asn3822Thr) c.11618A>C (p.Asn3873Thr) c.10523A>C (p.Asn3508Thr) c.11374A>C (p.Met3792Leu) c.6707A>C (p.Asn2236Thr) c.6260A>C (p.Asn2087Thr) c.5597A>C (p.Asn1866Thr) c.10112A>C (p.Asn3371Thr) | |
5 | g.13735879T>A | CA3201937 | DNAH5 | c.11509A>T (p.Asn3837Tyr) c.11464A>T (p.Asn3822Tyr) c.11617A>T (p.Asn3873Tyr) c.10522A>T (p.Asn3508Tyr) c.11373A>T (p.Leu3791Phe) c.6706A>T (p.Asn2236Tyr) c.6259A>T (p.Asn2087Tyr) c.5596A>T (p.Asn1866Tyr) c.10111A>T (p.Asn3371Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735879T>C | CA359224894 | DNAH5 | c.11509A>G (p.Asn3837Asp) c.11464A>G (p.Asn3822Asp) c.11617A>G (p.Asn3873Asp) c.10522A>G (p.Asn3508Asp) c.11373A>G (p.Leu3791=) c.6706A>G (p.Asn2236Asp) c.6259A>G (p.Asn2087Asp) c.5596A>G (p.Asn1866Asp) c.10111A>G (p.Asn3371Asp) | dbSNP |
5 | g.13735879T>G | CA359224898 | DNAH5 | c.11509A>C (p.Asn3837His) c.11464A>C (p.Asn3822His) c.11617A>C (p.Asn3873His) c.10522A>C (p.Asn3508His) c.11373A>C (p.Leu3791Phe) c.6706A>C (p.Asn2236His) c.6259A>C (p.Asn2087His) c.5596A>C (p.Asn1866His) c.10111A>C (p.Asn3371His) | |
5 | g.13735879T= | CA1528415122 | DNAH5 | c.11509A= (p.Asn3837=) c.11464A= (p.Asn3822=) c.11617A= (p.Asn3873=) c.10522A= (p.Asn3508=) c.11373A= (p.Leu3791=) c.6706A= (p.Asn2236=) c.6259A= (p.Asn2087=) c.5596A= (p.Asn1866=) c.10111A= (p.Asn3371=) | |
5 | g.13735880A>C | CA443260318 | DNAH5 | c.11508T>G (p.Val3836=) c.11463T>G (p.Val3821=) c.11616T>G (p.Val3872=) c.10521T>G (p.Val3507=) c.11372T>G (p.Leu3791Ter) c.6705T>G (p.Val2235=) c.6258T>G (p.Val2086=) c.5595T>G (p.Val1865=) c.10110T>G (p.Val3370=) | |
5 | g.13735880A>G | CA443260319 | DNAH5 | c.11508T>C (p.Val3836=) c.11463T>C (p.Val3821=) c.11616T>C (p.Val3872=) c.10521T>C (p.Val3507=) c.11372T>C (p.Leu3791Ser) c.6705T>C (p.Val2235=) c.6258T>C (p.Val2086=) c.5595T>C (p.Val1865=) c.10110T>C (p.Val3370=) | |
5 | g.13735880A>T | CA443260320 | DNAH5 | c.11508T>A (p.Val3836=) c.11463T>A (p.Val3821=) c.11616T>A (p.Val3872=) c.10521T>A (p.Val3507=) c.11372T>A (p.Leu3791Ter) c.6705T>A (p.Val2235=) c.6258T>A (p.Val2086=) c.5595T>A (p.Val1865=) c.10110T>A (p.Val3370=) | |
5 | g.13735881A>C | CA359224904 | DNAH5 | c.11507T>G (p.Val3836Gly) c.11462T>G (p.Val3821Gly) c.11615T>G (p.Val3872Gly) c.10520T>G (p.Val3507Gly) c.11371T>G (p.Leu3791Val) c.6704T>G (p.Val2235Gly) c.6257T>G (p.Val2086Gly) c.5594T>G (p.Val1865Gly) c.10109T>G (p.Val3370Gly) | |
5 | g.13735881A>G | CA359224899 | DNAH5 | c.11507T>C (p.Val3836Ala) c.11462T>C (p.Val3821Ala) c.11615T>C (p.Val3872Ala) c.10520T>C (p.Val3507Ala) c.11371T>C (p.Leu3791=) c.6704T>C (p.Val2235Ala) c.6257T>C (p.Val2086Ala) c.5594T>C (p.Val1865Ala) c.10109T>C (p.Val3370Ala) | |
5 | g.13735881A>T | CA359224901 | DNAH5 | c.11507T>A (p.Val3836Asp) c.11462T>A (p.Val3821Asp) c.11615T>A (p.Val3872Asp) c.10520T>A (p.Val3507Asp) c.11371T>A (p.Leu3791Ile) c.6704T>A (p.Val2235Asp) c.6257T>A (p.Val2086Asp) c.5594T>A (p.Val1865Asp) c.10109T>A (p.Val3370Asp) | |
5 | g.13735882C>A | CA113927550 | DNAH5 | c.11506G>T (p.Val3836Phe) c.11461G>T (p.Val3821Phe) c.11614G>T (p.Val3872Phe) c.10519G>T (p.Val3507Phe) c.11370G>T (p.Trp3790Cys) c.6703G>T (p.Val2235Phe) c.6256G>T (p.Val2086Phe) c.5593G>T (p.Val1865Phe) c.10108G>T (p.Val3370Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735882C= | CA1528415123 | DNAH5 | c.11506G= (p.Val3836=) c.11461G= (p.Val3821=) c.11614G= (p.Val3872=) c.10519G= (p.Val3507=) c.11370G= (p.Trp3790=) c.6703G= (p.Val2235=) c.6256G= (p.Val2086=) c.5593G= (p.Val1865=) c.10108G= (p.Val3370=) | |
5 | g.13735882C>G | CA359224911 | DNAH5 | c.11506G>C (p.Val3836Leu) c.11461G>C (p.Val3821Leu) c.11614G>C (p.Val3872Leu) c.10519G>C (p.Val3507Leu) c.11370G>C (p.Trp3790Cys) c.6703G>C (p.Val2235Leu) c.6256G>C (p.Val2086Leu) c.5593G>C (p.Val1865Leu) c.10108G>C (p.Val3370Leu) | |
5 | g.13735882C>T | CA359224916 | DNAH5 | c.11506G>A (p.Val3836Ile) c.11461G>A (p.Val3821Ile) c.11614G>A (p.Val3872Ile) c.10519G>A (p.Val3507Ile) c.11370G>A (p.Trp3790Ter) c.6703G>A (p.Val2235Ile) c.6256G>A (p.Val2086Ile) c.5593G>A (p.Val1865Ile) c.10108G>A (p.Val3370Ile) | |
5 | g.13735883C>A | CA359224918 | DNAH5 | c.11505G>T (p.Leu3835Phe) c.11460G>T (p.Leu3820Phe) c.11613G>T (p.Leu3871Phe) c.10518G>T (p.Leu3506Phe) c.11369G>T (p.Trp3790Leu) c.6702G>T (p.Leu2234Phe) c.6255G>T (p.Leu2085Phe) c.5592G>T (p.Leu1864Phe) c.10107G>T (p.Leu3369Phe) | gnomAD v4 |
5 | g.13735883C>G | CA359224919 | DNAH5 | c.11505G>C (p.Leu3835Phe) c.11460G>C (p.Leu3820Phe) c.11613G>C (p.Leu3871Phe) c.10518G>C (p.Leu3506Phe) c.11369G>C (p.Trp3790Ser) c.6702G>C (p.Leu2234Phe) c.6255G>C (p.Leu2085Phe) c.5592G>C (p.Leu1864Phe) c.10107G>C (p.Leu3369Phe) | |
5 | g.13735883C>T | CA443260322 | DNAH5 | c.11505G>A (p.Leu3835=) c.11460G>A (p.Leu3820=) c.11613G>A (p.Leu3871=) c.10518G>A (p.Leu3506=) c.11369G>A (p.Trp3790Ter) c.6702G>A (p.Leu2234=) c.6255G>A (p.Leu2085=) c.5592G>A (p.Leu1864=) c.10107G>A (p.Leu3369=) | |
5 | g.13735884A>C | CA359224920 | DNAH5 | c.11504T>G (p.Leu3835Trp) c.11459T>G (p.Leu3820Trp) c.11612T>G (p.Leu3871Trp) c.10517T>G (p.Leu3506Trp) c.11368T>G (p.Trp3790Gly) c.6701T>G (p.Leu2234Trp) c.6254T>G (p.Leu2085Trp) c.5591T>G (p.Leu1864Trp) c.10106T>G (p.Leu3369Trp) | |
5 | g.13735884A>G | CA359224921 | DNAH5 | c.11504T>C (p.Leu3835Ser) c.11459T>C (p.Leu3820Ser) c.11612T>C (p.Leu3871Ser) c.10517T>C (p.Leu3506Ser) c.11368T>C (p.Trp3790Arg) c.6701T>C (p.Leu2234Ser) c.6254T>C (p.Leu2085Ser) c.5591T>C (p.Leu1864Ser) c.10106T>C (p.Leu3369Ser) | |
5 | g.13735884A>T | CA359224924 | DNAH5 | c.11504T>A (p.Leu3835Ter) c.11459T>A (p.Leu3820Ter) c.11612T>A (p.Leu3871Ter) c.10517T>A (p.Leu3506Ter) c.11368T>A (p.Trp3790Arg) c.6701T>A (p.Leu2234Ter) c.6254T>A (p.Leu2085Ter) c.5591T>A (p.Leu1864Ter) c.10106T>A (p.Leu3369Ter) | |
5 | g.13735885A>C | CA359224925 | DNAH5 | c.11503T>G (p.Leu3835Val) c.11458T>G (p.Leu3820Val) c.11611T>G (p.Leu3871Val) c.10516T>G (p.Leu3506Val) c.11367T>G (p.Ala3789=) c.6700T>G (p.Leu2234Val) c.6253T>G (p.Leu2085Val) c.5590T>G (p.Leu1864Val) c.10105T>G (p.Leu3369Val) | |
5 | g.13735885A>G | CA443260323 | DNAH5 | c.11503T>C (p.Leu3835=) c.11458T>C (p.Leu3820=) c.11611T>C (p.Leu3871=) c.10516T>C (p.Leu3506=) c.11367T>C (p.Ala3789=) c.6700T>C (p.Leu2234=) c.6253T>C (p.Leu2085=) c.5590T>C (p.Leu1864=) c.10105T>C (p.Leu3369=) | |
5 | g.13735885A>T | CA359224926 | DNAH5 | c.11503T>A (p.Leu3835Met) c.11458T>A (p.Leu3820Met) c.11611T>A (p.Leu3871Met) c.10516T>A (p.Leu3506Met) c.11367T>A (p.Ala3789=) c.6700T>A (p.Leu2234Met) c.6253T>A (p.Leu2085Met) c.5590T>A (p.Leu1864Met) c.10105T>A (p.Leu3369Met) | |
5 | g.13735886G>A | CA443260325 | DNAH5 | c.11502C>T (p.Arg3834=) c.11457C>T (p.Arg3819=) c.11610C>T (p.Arg3870=) c.10515C>T (p.Arg3505=) c.11366C>T (p.Ala3789Val) c.6699C>T (p.Arg2233=) c.6252C>T (p.Arg2084=) c.5589C>T (p.Arg1863=) c.10104C>T (p.Arg3368=) | |
5 | g.13735886G>C | CA443260326 | DNAH5 | c.11502C>G (p.Arg3834=) c.11457C>G (p.Arg3819=) c.11610C>G (p.Arg3870=) c.10515C>G (p.Arg3505=) c.11366C>G (p.Ala3789Gly) c.6699C>G (p.Arg2233=) c.6252C>G (p.Arg2084=) c.5589C>G (p.Arg1863=) c.10104C>G (p.Arg3368=) | |
5 | g.13735886G>T | CA443260324 | DNAH5 | c.11502C>A (p.Arg3834=) c.11457C>A (p.Arg3819=) c.11610C>A (p.Arg3870=) c.10515C>A (p.Arg3505=) c.11366C>A (p.Ala3789Asp) c.6699C>A (p.Arg2233=) c.6252C>A (p.Arg2084=) c.5589C>A (p.Arg1863=) c.10104C>A (p.Arg3368=) | |
5 | g.13735887C>A | CA359224927 | DNAH5 | c.11501G>T (p.Arg3834Leu) c.11456G>T (p.Arg3819Leu) c.11609G>T (p.Arg3870Leu) c.10514G>T (p.Arg3505Leu) c.11365G>T (p.Ala3789Ser) c.6698G>T (p.Arg2233Leu) c.6251G>T (p.Arg2084Leu) c.5588G>T (p.Arg1863Leu) c.10103G>T (p.Arg3368Leu) | |
5 | g.13735887C= | CA1528415124 | DNAH5 | c.11501G= (p.Arg3834=) c.11456G= (p.Arg3819=) c.11609G= (p.Arg3870=) c.10514G= (p.Arg3505=) c.11365G= (p.Ala3789=) c.6698G= (p.Arg2233=) c.6251G= (p.Arg2084=) c.5588G= (p.Arg1863=) c.10103G= (p.Arg3368=) | |
5 | g.13735887C>G | CA359224934 | DNAH5 | c.11501G>C (p.Arg3834Pro) c.11456G>C (p.Arg3819Pro) c.11609G>C (p.Arg3870Pro) c.10514G>C (p.Arg3505Pro) c.11365G>C (p.Ala3789Pro) c.6698G>C (p.Arg2233Pro) c.6251G>C (p.Arg2084Pro) c.5588G>C (p.Arg1863Pro) c.10103G>C (p.Arg3368Pro) | gnomAD v4 |
5 | g.13735887C>T | CA3201938 | DNAH5 | c.11501G>A (p.Arg3834His) c.11456G>A (p.Arg3819His) c.11609G>A (p.Arg3870His) c.10514G>A (p.Arg3505His) c.11365G>A (p.Ala3789Thr) c.6698G>A (p.Arg2233His) c.6251G>A (p.Arg2084His) c.5588G>A (p.Arg1863His) c.10103G>A (p.Arg3368His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13735888G>A | CA359224935 | DNAH5 | c.11500C>T (p.Arg3834Cys) c.11455C>T (p.Arg3819Cys) c.11608C>T (p.Arg3870Cys) c.10513C>T (p.Arg3505Cys) c.11364C>T (p.Cys3788=) c.6697C>T (p.Arg2233Cys) c.6250C>T (p.Arg2084Cys) c.5587C>T (p.Arg1863Cys) c.10102C>T (p.Arg3368Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13735888G>C | CA359224936 | DNAH5 | c.11500C>G (p.Arg3834Gly) c.11455C>G (p.Arg3819Gly) c.11608C>G (p.Arg3870Gly) c.10513C>G (p.Arg3505Gly) c.11364C>G (p.Cys3788Trp) c.6697C>G (p.Arg2233Gly) c.6250C>G (p.Arg2084Gly) c.5587C>G (p.Arg1863Gly) c.10102C>G (p.Arg3368Gly) | gnomAD v4 |
5 | g.13735888G= | CA1528415125 | DNAH5 | c.11500C= (p.Arg3834=) c.11455C= (p.Arg3819=) c.11608C= (p.Arg3870=) c.10513C= (p.Arg3505=) c.11364C= (p.Cys3788=) c.6697C= (p.Arg2233=) c.6250C= (p.Arg2084=) c.5587C= (p.Arg1863=) c.10102C= (p.Arg3368=) | |
5 | g.13735888G>T | CA359224944 | DNAH5 | c.11500C>A (p.Arg3834Ser) c.11455C>A (p.Arg3819Ser) c.11608C>A (p.Arg3870Ser) c.10513C>A (p.Arg3505Ser) c.11364C>A (p.Cys3788Ter) c.6697C>A (p.Arg2233Ser) c.6250C>A (p.Arg2084Ser) c.5587C>A (p.Arg1863Ser) c.10102C>A (p.Arg3368Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13735889C>A | CA359224947 | DNAH5 | c.11499G>T (p.Met3833Ile) c.11454G>T (p.Met3818Ile) c.11607G>T (p.Met3869Ile) c.10512G>T (p.Met3504Ile) c.11363G>T (p.Cys3788Phe) c.6696G>T (p.Met2232Ile) c.6249G>T (p.Met2083Ile) c.5586G>T (p.Met1862Ile) c.10101G>T (p.Met3367Ile) | |
5 | g.13735889C= | CA1528415126 | DNAH5 | c.11499G= (p.Met3833=) c.11454G= (p.Met3818=) c.11607G= (p.Met3869=) c.10512G= (p.Met3504=) c.11363G= (p.Cys3788=) c.6696G= (p.Met2232=) c.6249G= (p.Met2083=) c.5586G= (p.Met1862=) c.10101G= (p.Met3367=) | |
5 | g.13735889C>G | CA359224955 | DNAH5 | c.11499G>C (p.Met3833Ile) c.11454G>C (p.Met3818Ile) c.11607G>C (p.Met3869Ile) c.10512G>C (p.Met3504Ile) c.11363G>C (p.Cys3788Ser) c.6696G>C (p.Met2232Ile) c.6249G>C (p.Met2083Ile) c.5586G>C (p.Met1862Ile) c.10101G>C (p.Met3367Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13735889C>T | CA3201939 | DNAH5 | c.11499G>A (p.Met3833Ile) c.11454G>A (p.Met3818Ile) c.11607G>A (p.Met3869Ile) c.10512G>A (p.Met3504Ile) c.11363G>A (p.Cys3788Tyr) c.6696G>A (p.Met2232Ile) c.6249G>A (p.Met2083Ile) c.5586G>A (p.Met1862Ile) c.10101G>A (p.Met3367Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735890A>C | CA359224971 | DNAH5 | c.11498T>G (p.Met3833Arg) c.11453T>G (p.Met3818Arg) c.11606T>G (p.Met3869Arg) c.10511T>G (p.Met3504Arg) c.11362T>G (p.Cys3788Gly) c.6695T>G (p.Met2232Arg) c.6248T>G (p.Met2083Arg) c.5585T>G (p.Met1862Arg) c.10100T>G (p.Met3367Arg) | |
5 | g.13735890A>G | CA359224973 | DNAH5 | c.11498T>C (p.Met3833Thr) c.11453T>C (p.Met3818Thr) c.11606T>C (p.Met3869Thr) c.10511T>C (p.Met3504Thr) c.11362T>C (p.Cys3788Arg) c.6695T>C (p.Met2232Thr) c.6248T>C (p.Met2083Thr) c.5585T>C (p.Met1862Thr) c.10100T>C (p.Met3367Thr) | gnomAD v4 |
5 | g.13735890A>T | CA359224974 | DNAH5 | c.11498T>A (p.Met3833Lys) c.11453T>A (p.Met3818Lys) c.11606T>A (p.Met3869Lys) c.10511T>A (p.Met3504Lys) c.11362T>A (p.Cys3788Ser) c.6695T>A (p.Met2232Lys) c.6248T>A (p.Met2083Lys) c.5585T>A (p.Met1862Lys) c.10100T>A (p.Met3367Lys) | |
5 | g.13735891T>A | CA3201940 | DNAH5 | c.11497A>T (p.Met3833Leu) c.11452A>T (p.Met3818Leu) c.11605A>T (p.Met3869Leu) c.10510A>T (p.Met3504Leu) c.11361A>T (p.Arg3787Ser) c.6694A>T (p.Met2232Leu) c.6247A>T (p.Met2083Leu) c.5584A>T (p.Met1862Leu) c.10099A>T (p.Met3367Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735891T>C | CA359224976 | DNAH5 | c.11497A>G (p.Met3833Val) c.11452A>G (p.Met3818Val) c.11605A>G (p.Met3869Val) c.10510A>G (p.Met3504Val) c.11361A>G (p.Arg3787=) c.6694A>G (p.Met2232Val) c.6247A>G (p.Met2083Val) c.5584A>G (p.Met1862Val) c.10099A>G (p.Met3367Val) | |
5 | g.13735891T>G | CA359224978 | DNAH5 | c.11497A>C (p.Met3833Leu) c.11452A>C (p.Met3818Leu) c.11605A>C (p.Met3869Leu) c.10510A>C (p.Met3504Leu) c.11361A>C (p.Arg3787Ser) c.6694A>C (p.Met2232Leu) c.6247A>C (p.Met2083Leu) c.5584A>C (p.Met1862Leu) c.10099A>C (p.Met3367Leu) | |
5 | g.13735891T= | CA1528415127 | DNAH5 | c.11497A= (p.Met3833=) c.11452A= (p.Met3818=) c.11605A= (p.Met3869=) c.10510A= (p.Met3504=) c.11361A= (p.Arg3787=) c.6694A= (p.Met2232=) c.6247A= (p.Met2083=) c.5584A= (p.Met1862=) c.10099A= (p.Met3367=) | |
5 | g.13735893_13735894del | CA2580613517 | DNAH5 | c.11496_11497del (p.Glu3832AspfsTer5) c.11451_11452del (p.Glu3817AspfsTer5) c.11604_11605del (p.Glu3868AspfsTer5) c.10509_10510del (p.Glu3503AspfsTer5) c.11360_11361del (p.Arg3787MetfsTer?) c.6693_6694del (p.Glu2231AspfsTer5) c.6246_6247del (p.Glu2082AspfsTer5) c.5583_5584del (p.Glu1861AspfsTer5) c.10098_10099del (p.Glu3366AspfsTer5) | ClinVar |
5 | g.13735892C>A | CA359224984 | DNAH5 | c.11496G>T (p.Glu3832Asp) c.11451G>T (p.Glu3817Asp) c.11604G>T (p.Glu3868Asp) c.10509G>T (p.Glu3503Asp) c.11360G>T (p.Arg3787Ile) c.6693G>T (p.Glu2231Asp) c.6246G>T (p.Glu2082Asp) c.5583G>T (p.Glu1861Asp) c.10098G>T (p.Glu3366Asp) | |
5 | g.13735892C>G | CA359224982 | DNAH5 | c.11496G>C (p.Glu3832Asp) c.11451G>C (p.Glu3817Asp) c.11604G>C (p.Glu3868Asp) c.10509G>C (p.Glu3503Asp) c.11360G>C (p.Arg3787Thr) c.6693G>C (p.Glu2231Asp) c.6246G>C (p.Glu2082Asp) c.5583G>C (p.Glu1861Asp) c.10098G>C (p.Glu3366Asp) | |
5 | g.13735892C>T | CA443260331 | DNAH5 | c.11496G>A (p.Glu3832=) c.11451G>A (p.Glu3817=) c.11604G>A (p.Glu3868=) c.10509G>A (p.Glu3503=) c.11360G>A (p.Arg3787Lys) c.6693G>A (p.Glu2231=) c.6246G>A (p.Glu2082=) c.5583G>A (p.Glu1861=) c.10098G>A (p.Glu3366=) | |
5 | g.13735893T>A | CA359224990 | DNAH5 | c.11495A>T (p.Glu3832Val) c.11450A>T (p.Glu3817Val) c.11603A>T (p.Glu3868Val) c.10508A>T (p.Glu3503Val) c.11359A>T (p.Arg3787Ter) c.6692A>T (p.Glu2231Val) c.6245A>T (p.Glu2082Val) c.5582A>T (p.Glu1861Val) c.10097A>T (p.Glu3366Val) | |
5 | g.13735893T>C | CA359224993 | DNAH5 | c.11495A>G (p.Glu3832Gly) c.11450A>G (p.Glu3817Gly) c.11603A>G (p.Glu3868Gly) c.10508A>G (p.Glu3503Gly) c.11359A>G (p.Arg3787Gly) c.6692A>G (p.Glu2231Gly) c.6245A>G (p.Glu2082Gly) c.5582A>G (p.Glu1861Gly) c.10097A>G (p.Glu3366Gly) | |
5 | g.13735893T>G | CA359224995 | DNAH5 | c.11495A>C (p.Glu3832Ala) c.11450A>C (p.Glu3817Ala) c.11603A>C (p.Glu3868Ala) c.10508A>C (p.Glu3503Ala) c.11359A>C (p.Arg3787=) c.6692A>C (p.Glu2231Ala) c.6245A>C (p.Glu2082Ala) c.5582A>C (p.Glu1861Ala) c.10097A>C (p.Glu3366Ala) | |
5 | g.13735894C>A | CA359224998 | DNAH5 | c.11494G>T (p.Glu3832Ter) c.11449G>T (p.Glu3817Ter) c.11602G>T (p.Glu3868Ter) c.10507G>T (p.Glu3503Ter) c.11358G>T (p.Leu3786=) c.6691G>T (p.Glu2231Ter) c.6244G>T (p.Glu2082Ter) c.5581G>T (p.Glu1861Ter) c.10096G>T (p.Glu3366Ter) | |
5 | g.13735894C>G | CA359225001 | DNAH5 | c.11494G>C (p.Glu3832Gln) c.11449G>C (p.Glu3817Gln) c.11602G>C (p.Glu3868Gln) c.10507G>C (p.Glu3503Gln) c.11358G>C (p.Leu3786=) c.6691G>C (p.Glu2231Gln) c.6244G>C (p.Glu2082Gln) c.5581G>C (p.Glu1861Gln) c.10096G>C (p.Glu3366Gln) | |
5 | g.13735894C>T | CA359225003 | DNAH5 | c.11494G>A (p.Glu3832Lys) c.11449G>A (p.Glu3817Lys) c.11602G>A (p.Glu3868Lys) c.10507G>A (p.Glu3503Lys) c.11358G>A (p.Leu3786=) c.6691G>A (p.Glu2231Lys) c.6244G>A (p.Glu2082Lys) c.5581G>A (p.Glu1861Lys) c.10096G>A (p.Glu3366Lys) | COSMIC |
5 | g.13735895A= | CA1528415128 | DNAH5 | c.11493T= (p.Thr3831=) c.11448T= (p.Thr3816=) c.11601T= (p.Thr3867=) c.10506T= (p.Thr3502=) c.11357T= (p.Leu3786=) c.6690T= (p.Thr2230=) c.6243T= (p.Thr2081=) c.5580T= (p.Thr1860=) c.10095T= (p.Thr3365=) | |
5 | g.13735895A>C | CA443260332 | DNAH5 | c.11493T>G (p.Thr3831=) c.11448T>G (p.Thr3816=) c.11601T>G (p.Thr3867=) c.10506T>G (p.Thr3502=) c.11357T>G (p.Leu3786Arg) c.6690T>G (p.Thr2230=) c.6243T>G (p.Thr2081=) c.5580T>G (p.Thr1860=) c.10095T>G (p.Thr3365=) | gnomAD v4 |
5 | g.13735895A>G | CA443260333 | DNAH5 | c.11493T>C (p.Thr3831=) c.11448T>C (p.Thr3816=) c.11601T>C (p.Thr3867=) c.10506T>C (p.Thr3502=) c.11357T>C (p.Leu3786Pro) c.6690T>C (p.Thr2230=) c.6243T>C (p.Thr2081=) c.5580T>C (p.Thr1860=) c.10095T>C (p.Thr3365=) | dbSNP |
5 | g.13735895A>T | CA443260334 | DNAH5 | c.11493T>A (p.Thr3831=) c.11448T>A (p.Thr3816=) c.11601T>A (p.Thr3867=) c.10506T>A (p.Thr3502=) c.11357T>A (p.Leu3786Gln) c.6690T>A (p.Thr2230=) c.6243T>A (p.Thr2081=) c.5580T>A (p.Thr1860=) c.10095T>A (p.Thr3365=) | |
5 | g.13735896G>A | CA359225008 | DNAH5 | c.11492C>T (p.Thr3831Ile) c.11447C>T (p.Thr3816Ile) c.11600C>T (p.Thr3867Ile) c.10505C>T (p.Thr3502Ile) c.11356C>T (p.Leu3786=) c.6689C>T (p.Thr2230Ile) c.6242C>T (p.Thr2081Ile) c.5579C>T (p.Thr1860Ile) c.10094C>T (p.Thr3365Ile) | gnomAD v4 |
5 | g.13735896G>C | CA3201941 | DNAH5 | c.11492C>G (p.Thr3831Ser) c.11447C>G (p.Thr3816Ser) c.11600C>G (p.Thr3867Ser) c.10505C>G (p.Thr3502Ser) c.11356C>G (p.Leu3786Val) c.6689C>G (p.Thr2230Ser) c.6242C>G (p.Thr2081Ser) c.5579C>G (p.Thr1860Ser) c.10094C>G (p.Thr3365Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735896G= | CA1528415129 | DNAH5 | c.11492C= (p.Thr3831=) c.11447C= (p.Thr3816=) c.11600C= (p.Thr3867=) c.10505C= (p.Thr3502=) c.11356C= (p.Leu3786=) c.6689C= (p.Thr2230=) c.6242C= (p.Thr2081=) c.5579C= (p.Thr1860=) c.10094C= (p.Thr3365=) | |
5 | g.13735896G>T | CA359225011 | DNAH5 | c.11492C>A (p.Thr3831Asn) c.11447C>A (p.Thr3816Asn) c.11600C>A (p.Thr3867Asn) c.10505C>A (p.Thr3502Asn) c.11356C>A (p.Leu3786Met) c.6689C>A (p.Thr2230Asn) c.6242C>A (p.Thr2081Asn) c.5579C>A (p.Thr1860Asn) c.10094C>A (p.Thr3365Asn) | |
5 | g.13735897T>A | CA359225024 | DNAH5 | c.11491A>T (p.Thr3831Ser) c.11446A>T (p.Thr3816Ser) c.11599A>T (p.Thr3867Ser) c.10504A>T (p.Thr3502Ser) c.11355A>T (p.Leu3785Phe) c.6688A>T (p.Thr2230Ser) c.6241A>T (p.Thr2081Ser) c.5578A>T (p.Thr1860Ser) c.10093A>T (p.Thr3365Ser) | |
5 | g.13735897T>C | CA359225026 | DNAH5 | c.11491A>G (p.Thr3831Ala) c.11446A>G (p.Thr3816Ala) c.11599A>G (p.Thr3867Ala) c.10504A>G (p.Thr3502Ala) c.11355A>G (p.Leu3785=) c.6688A>G (p.Thr2230Ala) c.6241A>G (p.Thr2081Ala) c.5578A>G (p.Thr1860Ala) c.10093A>G (p.Thr3365Ala) | |
5 | g.13735897T>G | CA359225029 | DNAH5 | c.11491A>C (p.Thr3831Pro) c.11446A>C (p.Thr3816Pro) c.11599A>C (p.Thr3867Pro) c.10504A>C (p.Thr3502Pro) c.11355A>C (p.Leu3785Phe) c.6688A>C (p.Thr2230Pro) c.6241A>C (p.Thr2081Pro) c.5578A>C (p.Thr1860Pro) c.10093A>C (p.Thr3365Pro) | |
5 | g.13735898A>C | CA359225037 | DNAH5 | c.11490T>G (p.Ile3830Met) c.11445T>G (p.Ile3815Met) c.11598T>G (p.Ile3866Met) c.10503T>G (p.Ile3501Met) c.11354T>G (p.Leu3785Ter) c.6687T>G (p.Ile2229Met) c.6240T>G (p.Ile2080Met) c.5577T>G (p.Ile1859Met) c.10092T>G (p.Ile3364Met) | |
5 | g.13735898A>G | CA443260336 | DNAH5 | c.11490T>C (p.Ile3830=) c.11445T>C (p.Ile3815=) c.11598T>C (p.Ile3866=) c.10503T>C (p.Ile3501=) c.11354T>C (p.Leu3785Ser) c.6687T>C (p.Ile2229=) c.6240T>C (p.Ile2080=) c.5577T>C (p.Ile1859=) c.10092T>C (p.Ile3364=) | |
5 | g.13735898A>T | CA443260337 | DNAH5 | c.11490T>A (p.Ile3830=) c.11445T>A (p.Ile3815=) c.11598T>A (p.Ile3866=) c.10503T>A (p.Ile3501=) c.11354T>A (p.Leu3785Ter) c.6687T>A (p.Ile2229=) c.6240T>A (p.Ile2080=) c.5577T>A (p.Ile1859=) c.10092T>A (p.Ile3364=) | |
5 | g.13735899A>C | CA359225047 | DNAH5 | c.11489T>G (p.Ile3830Ser) c.11444T>G (p.Ile3815Ser) c.11597T>G (p.Ile3866Ser) c.10502T>G (p.Ile3501Ser) c.11353T>G (p.Leu3785Val) c.6686T>G (p.Ile2229Ser) c.6239T>G (p.Ile2080Ser) c.5576T>G (p.Ile1859Ser) c.10091T>G (p.Ile3364Ser) | |
5 | g.13735899A>G | CA359225043 | DNAH5 | c.11489T>C (p.Ile3830Thr) c.11444T>C (p.Ile3815Thr) c.11597T>C (p.Ile3866Thr) c.10502T>C (p.Ile3501Thr) c.11353T>C (p.Leu3785=) c.6686T>C (p.Ile2229Thr) c.6239T>C (p.Ile2080Thr) c.5576T>C (p.Ile1859Thr) c.10091T>C (p.Ile3364Thr) | |
5 | g.13735899A>T | CA359225041 | DNAH5 | c.11489T>A (p.Ile3830Asn) c.11444T>A (p.Ile3815Asn) c.11597T>A (p.Ile3866Asn) c.10502T>A (p.Ile3501Asn) c.11353T>A (p.Leu3785Ile) c.6686T>A (p.Ile2229Asn) c.6239T>A (p.Ile2080Asn) c.5576T>A (p.Ile1859Asn) c.10091T>A (p.Ile3364Asn) | |
5 | g.13735900T>A | CA359225057 | DNAH5 | c.11488A>T (p.Ile3830Phe) c.11443A>T (p.Ile3815Phe) c.11596A>T (p.Ile3866Phe) c.10501A>T (p.Ile3501Phe) c.11352A>T (p.Ser3784=) c.6685A>T (p.Ile2229Phe) c.6238A>T (p.Ile2080Phe) c.5575A>T (p.Ile1859Phe) c.10090A>T (p.Ile3364Phe) | |
5 | g.13735900T>C | CA359225065 | DNAH5 | c.11488A>G (p.Ile3830Val) c.11443A>G (p.Ile3815Val) c.11596A>G (p.Ile3866Val) c.10501A>G (p.Ile3501Val) c.11352A>G (p.Ser3784=) c.6685A>G (p.Ile2229Val) c.6238A>G (p.Ile2080Val) c.5575A>G (p.Ile1859Val) c.10090A>G (p.Ile3364Val) | dbSNP |
5 | g.13735900T>G | CA359225069 | DNAH5 | c.11488A>C (p.Ile3830Leu) c.11443A>C (p.Ile3815Leu) c.11596A>C (p.Ile3866Leu) c.10501A>C (p.Ile3501Leu) c.11352A>C (p.Ser3784=) c.6685A>C (p.Ile2229Leu) c.6238A>C (p.Ile2080Leu) c.5575A>C (p.Ile1859Leu) c.10090A>C (p.Ile3364Leu) | dbSNP gnomAD v4 |
5 | g.13735900T= | CA1528415130 | DNAH5 | c.11488A= (p.Ile3830=) c.11443A= (p.Ile3815=) c.11596A= (p.Ile3866=) c.10501A= (p.Ile3501=) c.11352A= (p.Ser3784=) c.6685A= (p.Ile2229=) c.6238A= (p.Ile2080=) c.5575A= (p.Ile1859=) c.10090A= (p.Ile3364=) | |
5 | g.13735901G>A | CA443260338 | DNAH5 | c.11487C>T (p.Leu3829=) c.11442C>T (p.Leu3814=) c.11595C>T (p.Leu3865=) c.10500C>T (p.Leu3500=) c.11351C>T (p.Ser3784Leu) c.6684C>T (p.Leu2228=) c.6237C>T (p.Leu2079=) c.5574C>T (p.Leu1858=) c.10089C>T (p.Leu3363=) | gnomAD v4 |
5 | g.13735901G>C | CA443260339 | DNAH5 | c.11487C>G (p.Leu3829=) c.11442C>G (p.Leu3814=) c.11595C>G (p.Leu3865=) c.10500C>G (p.Leu3500=) c.11351C>G (p.Ser3784Ter) c.6684C>G (p.Leu2228=) c.6237C>G (p.Leu2079=) c.5574C>G (p.Leu1858=) c.10089C>G (p.Leu3363=) | ClinVar gnomAD v4 |
5 | g.13735901G>T | CA443260340 | DNAH5 | c.11487C>A (p.Leu3829=) c.11442C>A (p.Leu3814=) c.11595C>A (p.Leu3865=) c.10500C>A (p.Leu3500=) c.11351C>A (p.Ser3784Ter) c.6684C>A (p.Leu2228=) c.6237C>A (p.Leu2079=) c.5574C>A (p.Leu1858=) c.10089C>A (p.Leu3363=) | |
5 | g.13735902A>C | CA359225072 | DNAH5 | c.11486T>G (p.Leu3829Arg) c.11441T>G (p.Leu3814Arg) c.11594T>G (p.Leu3865Arg) c.10499T>G (p.Leu3500Arg) c.11350T>G (p.Ser3784Ala) c.6683T>G (p.Leu2228Arg) c.6236T>G (p.Leu2079Arg) c.5573T>G (p.Leu1858Arg) c.10088T>G (p.Leu3363Arg) | |
5 | g.13735902A>G | CA359225075 | DNAH5 | c.11486T>C (p.Leu3829Pro) c.11441T>C (p.Leu3814Pro) c.11594T>C (p.Leu3865Pro) c.10499T>C (p.Leu3500Pro) c.11350T>C (p.Ser3784Pro) c.6683T>C (p.Leu2228Pro) c.6236T>C (p.Leu2079Pro) c.5573T>C (p.Leu1858Pro) c.10088T>C (p.Leu3363Pro) | |
5 | g.13735902A>T | CA359225078 | DNAH5 | c.11486T>A (p.Leu3829His) c.11441T>A (p.Leu3814His) c.11594T>A (p.Leu3865His) c.10499T>A (p.Leu3500His) c.11350T>A (p.Ser3784Thr) c.6683T>A (p.Leu2228His) c.6236T>A (p.Leu2079His) c.5573T>A (p.Leu1858His) c.10088T>A (p.Leu3363His) | |
5 | g.13735903G>A | CA359225097 | DNAH5 | c.11485C>T (p.Leu3829Phe) c.11440C>T (p.Leu3814Phe) c.11593C>T (p.Leu3865Phe) c.10498C>T (p.Leu3500Phe) c.11349C>T (p.Ser3783=) c.6682C>T (p.Leu2228Phe) c.6235C>T (p.Leu2079Phe) c.5572C>T (p.Leu1858Phe) c.10087C>T (p.Leu3363Phe) | |
5 | g.13735903G>C | CA359225079 | DNAH5 | c.11485C>G (p.Leu3829Val) c.11440C>G (p.Leu3814Val) c.11593C>G (p.Leu3865Val) c.10498C>G (p.Leu3500Val) c.11349C>G (p.Ser3783=) c.6682C>G (p.Leu2228Val) c.6235C>G (p.Leu2079Val) c.5572C>G (p.Leu1858Val) c.10087C>G (p.Leu3363Val) | |
5 | g.13735903G>T | CA359225082 | DNAH5 | c.11485C>A (p.Leu3829Ile) c.11440C>A (p.Leu3814Ile) c.11593C>A (p.Leu3865Ile) c.10498C>A (p.Leu3500Ile) c.11349C>A (p.Ser3783=) c.6682C>A (p.Leu2228Ile) c.6235C>A (p.Leu2079Ile) c.5572C>A (p.Leu1858Ile) c.10087C>A (p.Leu3363Ile) | |
5 | g.13735904G>A | CA443260344 | DNAH5 | c.11484C>T (p.Phe3828=) c.11439C>T (p.Phe3813=) c.11592C>T (p.Phe3864=) c.10497C>T (p.Phe3499=) c.11348C>T (p.Ser3783Phe) c.6681C>T (p.Phe2227=) c.6234C>T (p.Phe2078=) c.5571C>T (p.Phe1857=) c.10086C>T (p.Phe3362=) | |
5 | g.13735904G>C | CA359225100 | DNAH5 | c.11484C>G (p.Phe3828Leu) c.11439C>G (p.Phe3813Leu) c.11592C>G (p.Phe3864Leu) c.10497C>G (p.Phe3499Leu) c.11348C>G (p.Ser3783Cys) c.6681C>G (p.Phe2227Leu) c.6234C>G (p.Phe2078Leu) c.5571C>G (p.Phe1857Leu) c.10086C>G (p.Phe3362Leu) | |
5 | g.13735904G>T | CA359225103 | DNAH5 | c.11484C>A (p.Phe3828Leu) c.11439C>A (p.Phe3813Leu) c.11592C>A (p.Phe3864Leu) c.10497C>A (p.Phe3499Leu) c.11348C>A (p.Ser3783Tyr) c.6681C>A (p.Phe2227Leu) c.6234C>A (p.Phe2078Leu) c.5571C>A (p.Phe1857Leu) c.10086C>A (p.Phe3362Leu) | |
5 | g.13735905A>C | CA359225107 | DNAH5 | c.11483T>G (p.Phe3828Cys) c.11438T>G (p.Phe3813Cys) c.11591T>G (p.Phe3864Cys) c.10496T>G (p.Phe3499Cys) c.11347T>G (p.Ser3783Ala) c.6680T>G (p.Phe2227Cys) c.6233T>G (p.Phe2078Cys) c.5570T>G (p.Phe1857Cys) c.10085T>G (p.Phe3362Cys) | |
5 | g.13735905A>G | CA359225122 | DNAH5 | c.11483T>C (p.Phe3828Ser) c.11438T>C (p.Phe3813Ser) c.11591T>C (p.Phe3864Ser) c.10496T>C (p.Phe3499Ser) c.11347T>C (p.Ser3783Pro) c.6680T>C (p.Phe2227Ser) c.6233T>C (p.Phe2078Ser) c.5570T>C (p.Phe1857Ser) c.10085T>C (p.Phe3362Ser) | |
5 | g.13735905A>T | CA359225135 | DNAH5 | c.11483T>A (p.Phe3828Tyr) c.11438T>A (p.Phe3813Tyr) c.11591T>A (p.Phe3864Tyr) c.10496T>A (p.Phe3499Tyr) c.11347T>A (p.Ser3783Thr) c.6680T>A (p.Phe2227Tyr) c.6233T>A (p.Phe2078Tyr) c.5570T>A (p.Phe1857Tyr) c.10085T>A (p.Phe3362Tyr) | |
5 | g.13735906A>C | CA359225152 | DNAH5 | c.11482T>G (p.Phe3828Val) c.11437T>G (p.Phe3813Val) c.11590T>G (p.Phe3864Val) c.10495T>G (p.Phe3499Val) c.11346T>G (p.Thr3782=) c.6679T>G (p.Phe2227Val) c.6232T>G (p.Phe2078Val) c.5569T>G (p.Phe1857Val) c.10084T>G (p.Phe3362Val) | |
5 | g.13735906A>G | CA359225141 | DNAH5 | c.11482T>C (p.Phe3828Leu) c.11437T>C (p.Phe3813Leu) c.11590T>C (p.Phe3864Leu) c.10495T>C (p.Phe3499Leu) c.11346T>C (p.Thr3782=) c.6679T>C (p.Phe2227Leu) c.6232T>C (p.Phe2078Leu) c.5569T>C (p.Phe1857Leu) c.10084T>C (p.Phe3362Leu) | |
5 | g.13735906A>T | CA359225145 | DNAH5 | c.11482T>A (p.Phe3828Ile) c.11437T>A (p.Phe3813Ile) c.11590T>A (p.Phe3864Ile) c.10495T>A (p.Phe3499Ile) c.11346T>A (p.Thr3782=) c.6679T>A (p.Phe2227Ile) c.6232T>A (p.Phe2078Ile) c.5569T>A (p.Phe1857Ile) c.10084T>A (p.Phe3362Ile) | |
5 | g.13735907G>A | CA443260349 | DNAH5 | c.11481C>T (p.Tyr3827=) c.11436C>T (p.Tyr3812=) c.11589C>T (p.Tyr3863=) c.10494C>T (p.Tyr3498=) c.11345C>T (p.Thr3782Ile) c.6678C>T (p.Tyr2226=) c.6231C>T (p.Tyr2077=) c.5568C>T (p.Tyr1856=) c.10083C>T (p.Tyr3361=) | ClinVar dbSNP |
5 | g.13735907G>C | CA359225158 | DNAH5 | c.11481C>G (p.Tyr3827Ter) c.11436C>G (p.Tyr3812Ter) c.11589C>G (p.Tyr3863Ter) c.10494C>G (p.Tyr3498Ter) c.11345C>G (p.Thr3782Ser) c.6678C>G (p.Tyr2226Ter) c.6231C>G (p.Tyr2077Ter) c.5568C>G (p.Tyr1856Ter) c.10083C>G (p.Tyr3361Ter) | |
5 | g.13735907G>T | CA359225160 | DNAH5 | c.11481C>A (p.Tyr3827Ter) c.11436C>A (p.Tyr3812Ter) c.11589C>A (p.Tyr3863Ter) c.10494C>A (p.Tyr3498Ter) c.11345C>A (p.Thr3782Asn) c.6678C>A (p.Tyr2226Ter) c.6231C>A (p.Tyr2077Ter) c.5568C>A (p.Tyr1856Ter) c.10083C>A (p.Tyr3361Ter) | |
5 | g.13735908T>A | CA359225166 | DNAH5 | c.11480A>T (p.Tyr3827Phe) c.11435A>T (p.Tyr3812Phe) c.11588A>T (p.Tyr3863Phe) c.10493A>T (p.Tyr3498Phe) c.11344A>T (p.Thr3782Ser) c.6677A>T (p.Tyr2226Phe) c.6230A>T (p.Tyr2077Phe) c.5567A>T (p.Tyr1856Phe) c.10082A>T (p.Tyr3361Phe) | |
5 | g.13735908T>C | CA359225167 | DNAH5 | c.11480A>G (p.Tyr3827Cys) c.11435A>G (p.Tyr3812Cys) c.11588A>G (p.Tyr3863Cys) c.10493A>G (p.Tyr3498Cys) c.11344A>G (p.Thr3782Ala) c.6677A>G (p.Tyr2226Cys) c.6230A>G (p.Tyr2077Cys) c.5567A>G (p.Tyr1856Cys) c.10082A>G (p.Tyr3361Cys) | |
5 | g.13735908T>G | CA359225171 | DNAH5 | c.11480A>C (p.Tyr3827Ser) c.11435A>C (p.Tyr3812Ser) c.11588A>C (p.Tyr3863Ser) c.10493A>C (p.Tyr3498Ser) c.11344A>C (p.Thr3782Pro) c.6677A>C (p.Tyr2226Ser) c.6230A>C (p.Tyr2077Ser) c.5567A>C (p.Tyr1856Ser) c.10082A>C (p.Tyr3361Ser) | |
5 | g.13735909A>C | CA359225172 | DNAH5 | c.11479T>G (p.Tyr3827Asp) c.11434T>G (p.Tyr3812Asp) c.11587T>G (p.Tyr3863Asp) c.10492T>G (p.Tyr3498Asp) c.11343T>G (p.Ser3781=) c.6676T>G (p.Tyr2226Asp) c.6229T>G (p.Tyr2077Asp) c.5566T>G (p.Tyr1856Asp) c.10081T>G (p.Tyr3361Asp) | |
5 | g.13735909A>G | CA359225173 | DNAH5 | c.11479T>C (p.Tyr3827His) c.11434T>C (p.Tyr3812His) c.11587T>C (p.Tyr3863His) c.10492T>C (p.Tyr3498His) c.11343T>C (p.Ser3781=) c.6676T>C (p.Tyr2226His) c.6229T>C (p.Tyr2077His) c.5566T>C (p.Tyr1856His) c.10081T>C (p.Tyr3361His) | |
5 | g.13735909A>T | CA359225174 | DNAH5 | c.11479T>A (p.Tyr3827Asn) c.11434T>A (p.Tyr3812Asn) c.11587T>A (p.Tyr3863Asn) c.10492T>A (p.Tyr3498Asn) c.11343T>A (p.Ser3781=) c.6676T>A (p.Tyr2226Asn) c.6229T>A (p.Tyr2077Asn) c.5566T>A (p.Tyr1856Asn) c.10081T>A (p.Tyr3361Asn) | |
5 | g.13735910G>A | CA3201942 | DNAH5 | c.11478C>T (p.Leu3826=) c.11433C>T (p.Leu3811=) c.11586C>T (p.Leu3862=) c.10491C>T (p.Leu3497=) c.11342C>T (p.Ser3781Phe) c.6675C>T (p.Leu2225=) c.6228C>T (p.Leu2076=) c.5565C>T (p.Leu1855=) c.10080C>T (p.Leu3360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735910G>C | CA443260350 | DNAH5 | c.11478C>G (p.Leu3826=) c.11433C>G (p.Leu3811=) c.11586C>G (p.Leu3862=) c.10491C>G (p.Leu3497=) c.11342C>G (p.Ser3781Cys) c.6675C>G (p.Leu2225=) c.6228C>G (p.Leu2076=) c.5565C>G (p.Leu1855=) c.10080C>G (p.Leu3360=) | ClinVar |
5 | g.13735910G= | CA1528415131 | DNAH5 | c.11478C= (p.Leu3826=) c.11433C= (p.Leu3811=) c.11586C= (p.Leu3862=) c.10491C= (p.Leu3497=) c.11342C= (p.Ser3781=) c.6675C= (p.Leu2225=) c.6228C= (p.Leu2076=) c.5565C= (p.Leu1855=) c.10080C= (p.Leu3360=) | |
5 | g.13735910G>T | CA443260352 | DNAH5 | c.11478C>A (p.Leu3826=) c.11433C>A (p.Leu3811=) c.11586C>A (p.Leu3862=) c.10491C>A (p.Leu3497=) c.11342C>A (p.Ser3781Tyr) c.6675C>A (p.Leu2225=) c.6228C>A (p.Leu2076=) c.5565C>A (p.Leu1855=) c.10080C>A (p.Leu3360=) | |
5 | g.13735911A>C | CA359225184 | DNAH5 | c.11477T>G (p.Leu3826Arg) c.11432T>G (p.Leu3811Arg) c.11585T>G (p.Leu3862Arg) c.10490T>G (p.Leu3497Arg) c.11341T>G (p.Ser3781Ala) c.6674T>G (p.Leu2225Arg) c.6227T>G (p.Leu2076Arg) c.5564T>G (p.Leu1855Arg) c.10079T>G (p.Leu3360Arg) | |
5 | g.13735911A>G | CA359225186 | DNAH5 | c.11477T>C (p.Leu3826Pro) c.11432T>C (p.Leu3811Pro) c.11585T>C (p.Leu3862Pro) c.10490T>C (p.Leu3497Pro) c.11341T>C (p.Ser3781Pro) c.6674T>C (p.Leu2225Pro) c.6227T>C (p.Leu2076Pro) c.5564T>C (p.Leu1855Pro) c.10079T>C (p.Leu3360Pro) | |
5 | g.13735911A>T | CA359225189 | DNAH5 | c.11477T>A (p.Leu3826His) c.11432T>A (p.Leu3811His) c.11585T>A (p.Leu3862His) c.10490T>A (p.Leu3497His) c.11341T>A (p.Ser3781Thr) c.6674T>A (p.Leu2225His) c.6227T>A (p.Leu2076His) c.5564T>A (p.Leu1855His) c.10079T>A (p.Leu3360His) | |
5 | g.13735912G>A | CA3201943 | DNAH5 | c.11476C>T (p.Leu3826Phe) c.11431C>T (p.Leu3811Phe) c.11584C>T (p.Leu3862Phe) c.10489C>T (p.Leu3497Phe) c.11340C>T (p.Ser3780=) c.6673C>T (p.Leu2225Phe) c.6226C>T (p.Leu2076Phe) c.5563C>T (p.Leu1855Phe) c.10078C>T (p.Leu3360Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735912G>C | CA359225197 | DNAH5 | c.11476C>G (p.Leu3826Val) c.11431C>G (p.Leu3811Val) c.11584C>G (p.Leu3862Val) c.10489C>G (p.Leu3497Val) c.11340C>G (p.Ser3780=) c.6673C>G (p.Leu2225Val) c.6226C>G (p.Leu2076Val) c.5563C>G (p.Leu1855Val) c.10078C>G (p.Leu3360Val) | |
5 | g.13735912G= | CA1528415132 | DNAH5 | c.11476C= (p.Leu3826=) c.11431C= (p.Leu3811=) c.11584C= (p.Leu3862=) c.10489C= (p.Leu3497=) c.11340C= (p.Ser3780=) c.6673C= (p.Leu2225=) c.6226C= (p.Leu2076=) c.5563C= (p.Leu1855=) c.10078C= (p.Leu3360=) | |
5 | g.13735912G>T | CA359225195 | DNAH5 | c.11476C>A (p.Leu3826Ile) c.11431C>A (p.Leu3811Ile) c.11584C>A (p.Leu3862Ile) c.10489C>A (p.Leu3497Ile) c.11340C>A (p.Ser3780=) c.6673C>A (p.Leu2225Ile) c.6226C>A (p.Leu2076Ile) c.5563C>A (p.Leu1855Ile) c.10078C>A (p.Leu3360Ile) | |
5 | g.13735913G>A | CA443260353 | DNAH5 | c.11475C>T (p.Ile3825=) c.11430C>T (p.Ile3810=) c.11583C>T (p.Ile3861=) c.10488C>T (p.Ile3496=) c.11339C>T (p.Ser3780Phe) c.6672C>T (p.Ile2224=) c.6225C>T (p.Ile2075=) c.5562C>T (p.Ile1854=) c.10077C>T (p.Ile3359=) | |
5 | g.13735913G>C | CA359225204 | DNAH5 | c.11475C>G (p.Ile3825Met) c.11430C>G (p.Ile3810Met) c.11583C>G (p.Ile3861Met) c.10488C>G (p.Ile3496Met) c.11339C>G (p.Ser3780Cys) c.6672C>G (p.Ile2224Met) c.6225C>G (p.Ile2075Met) c.5562C>G (p.Ile1854Met) c.10077C>G (p.Ile3359Met) | |
5 | g.13735913G>T | CA443260354 | DNAH5 | c.11475C>A (p.Ile3825=) c.11430C>A (p.Ile3810=) c.11583C>A (p.Ile3861=) c.10488C>A (p.Ile3496=) c.11339C>A (p.Ser3780Tyr) c.6672C>A (p.Ile2224=) c.6225C>A (p.Ile2075=) c.5562C>A (p.Ile1854=) c.10077C>A (p.Ile3359=) | |
5 | g.13735914A>C | CA359225209 | DNAH5 | c.11474T>G (p.Ile3825Ser) c.11429T>G (p.Ile3810Ser) c.11582T>G (p.Ile3861Ser) c.10487T>G (p.Ile3496Ser) c.11338T>G (p.Ser3780Ala) c.6671T>G (p.Ile2224Ser) c.6224T>G (p.Ile2075Ser) c.5561T>G (p.Ile1854Ser) c.10076T>G (p.Ile3359Ser) | |
5 | g.13735914A>G | CA359225211 | DNAH5 | c.11474T>C (p.Ile3825Thr) c.11429T>C (p.Ile3810Thr) c.11582T>C (p.Ile3861Thr) c.10487T>C (p.Ile3496Thr) c.11338T>C (p.Ser3780Pro) c.6671T>C (p.Ile2224Thr) c.6224T>C (p.Ile2075Thr) c.5561T>C (p.Ile1854Thr) c.10076T>C (p.Ile3359Thr) | |
5 | g.13735914A>T | CA359225215 | DNAH5 | c.11474T>A (p.Ile3825Asn) c.11429T>A (p.Ile3810Asn) c.11582T>A (p.Ile3861Asn) c.10487T>A (p.Ile3496Asn) c.11338T>A (p.Ser3780Thr) c.6671T>A (p.Ile2224Asn) c.6224T>A (p.Ile2075Asn) c.5561T>A (p.Ile1854Asn) c.10076T>A (p.Ile3359Asn) | |
5 | g.13735915T>A | CA359225219 | DNAH5 | c.11473A>T (p.Ile3825Phe) c.11428A>T (p.Ile3810Phe) c.11581A>T (p.Ile3861Phe) c.10486A>T (p.Ile3496Phe) c.11337A>T (p.Ala3779=) c.6670A>T (p.Ile2224Phe) c.6223A>T (p.Ile2075Phe) c.5560A>T (p.Ile1854Phe) c.10075A>T (p.Ile3359Phe) | |
5 | g.13735915T>C | CA359225222 | DNAH5 | c.11473A>G (p.Ile3825Val) c.11428A>G (p.Ile3810Val) c.11581A>G (p.Ile3861Val) c.10486A>G (p.Ile3496Val) c.11337A>G (p.Ala3779=) c.6670A>G (p.Ile2224Val) c.6223A>G (p.Ile2075Val) c.5560A>G (p.Ile1854Val) c.10075A>G (p.Ile3359Val) | |
5 | g.13735915T>G | CA359225225 | DNAH5 | c.11473A>C (p.Ile3825Leu) c.11428A>C (p.Ile3810Leu) c.11581A>C (p.Ile3861Leu) c.10486A>C (p.Ile3496Leu) c.11337A>C (p.Ala3779=) c.6670A>C (p.Ile2224Leu) c.6223A>C (p.Ile2075Leu) c.5560A>C (p.Ile1854Leu) c.10075A>C (p.Ile3359Leu) | |
5 | g.13735916G>A | CA443260356 | DNAH5 | c.11472C>T (p.Ser3824=) c.11427C>T (p.Ser3809=) c.11580C>T (p.Ser3860=) c.10485C>T (p.Ser3495=) c.11336C>T (p.Ala3779Val) c.6669C>T (p.Ser2223=) c.6222C>T (p.Ser2074=) c.5559C>T (p.Ser1853=) c.10074C>T (p.Ser3358=) | |
5 | g.13735916G>C | CA359225226 | DNAH5 | c.11472C>G (p.Ser3824Arg) c.11427C>G (p.Ser3809Arg) c.11580C>G (p.Ser3860Arg) c.10485C>G (p.Ser3495Arg) c.11336C>G (p.Ala3779Gly) c.6669C>G (p.Ser2223Arg) c.6222C>G (p.Ser2074Arg) c.5559C>G (p.Ser1853Arg) c.10074C>G (p.Ser3358Arg) | |
5 | g.13735916G>T | CA359225234 | DNAH5 | c.11472C>A (p.Ser3824Arg) c.11427C>A (p.Ser3809Arg) c.11580C>A (p.Ser3860Arg) c.10485C>A (p.Ser3495Arg) c.11336C>A (p.Ala3779Glu) c.6669C>A (p.Ser2223Arg) c.6222C>A (p.Ser2074Arg) c.5559C>A (p.Ser1853Arg) c.10074C>A (p.Ser3358Arg) | gnomAD v4 |
5 | g.13735917C>A | CA359225238 | DNAH5 | c.11471G>T (p.Ser3824Ile) c.11426G>T (p.Ser3809Ile) c.11579G>T (p.Ser3860Ile) c.10484G>T (p.Ser3495Ile) c.11335G>T (p.Ala3779Ser) c.6668G>T (p.Ser2223Ile) c.6221G>T (p.Ser2074Ile) c.5558G>T (p.Ser1853Ile) c.10073G>T (p.Ser3358Ile) | |
5 | g.13735917C>G | CA359225241 | DNAH5 | c.11471G>C (p.Ser3824Thr) c.11426G>C (p.Ser3809Thr) c.11579G>C (p.Ser3860Thr) c.10484G>C (p.Ser3495Thr) c.11335G>C (p.Ala3779Pro) c.6668G>C (p.Ser2223Thr) c.6221G>C (p.Ser2074Thr) c.5558G>C (p.Ser1853Thr) c.10073G>C (p.Ser3358Thr) | |
5 | g.13735917C>T | CA359225251 | DNAH5 | c.11471G>A (p.Ser3824Asn) c.11426G>A (p.Ser3809Asn) c.11579G>A (p.Ser3860Asn) c.10484G>A (p.Ser3495Asn) c.11335G>A (p.Ala3779Thr) c.6668G>A (p.Ser2223Asn) c.6221G>A (p.Ser2074Asn) c.5558G>A (p.Ser1853Asn) c.10073G>A (p.Ser3358Asn) | COSMIC |
5 | g.13735918T>A | CA359225261 | DNAH5 | c.11470A>T (p.Ser3824Cys) c.11425A>T (p.Ser3809Cys) c.11578A>T (p.Ser3860Cys) c.10483A>T (p.Ser3495Cys) c.11334A>T (p.Ala3778=) c.6667A>T (p.Ser2223Cys) c.6220A>T (p.Ser2074Cys) c.5557A>T (p.Ser1853Cys) c.10072A>T (p.Ser3358Cys) | |
5 | g.13735918T>C | CA3201944 | DNAH5 | c.11470A>G (p.Ser3824Gly) c.11425A>G (p.Ser3809Gly) c.11578A>G (p.Ser3860Gly) c.10483A>G (p.Ser3495Gly) c.11334A>G (p.Ala3778=) c.6667A>G (p.Ser2223Gly) c.6220A>G (p.Ser2074Gly) c.5557A>G (p.Ser1853Gly) c.10072A>G (p.Ser3358Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13735918T>G | CA359225259 | DNAH5 | c.11470A>C (p.Ser3824Arg) c.11425A>C (p.Ser3809Arg) c.11578A>C (p.Ser3860Arg) c.10483A>C (p.Ser3495Arg) c.11334A>C (p.Ala3778=) c.6667A>C (p.Ser2223Arg) c.6220A>C (p.Ser2074Arg) c.5557A>C (p.Ser1853Arg) c.10072A>C (p.Ser3358Arg) | |
5 | g.13735918T= | CA1528415133 | DNAH5 | c.11470A= (p.Ser3824=) c.11425A= (p.Ser3809=) c.11578A= (p.Ser3860=) c.10483A= (p.Ser3495=) c.11334A= (p.Ala3778=) c.6667A= (p.Ser2223=) c.6220A= (p.Ser2074=) c.5557A= (p.Ser1853=) c.10072A= (p.Ser3358=) | |
5 | g.13735919del | CA2580071996 | DNAH5 | c.11469del (p.Ser3824AlafsTer?) c.11424del (p.Ser3809AlafsTer?) c.11577del (p.Ser3860AlafsTer?) c.10482del (p.Ser3495AlafsTer?) c.11333del (p.Ala3778GlufsTer9) c.6666del (p.Ser2223AlafsTer?) c.6219del (p.Ser2074AlafsTer?) c.5556del (p.Ser1853AlafsTer?) c.10071del (p.Ser3358AlafsTer?) | ClinVar |
5 | g.13735919G>A | CA443260358 | DNAH5 | c.11469C>T (p.Gly3823=) c.11424C>T (p.Gly3808=) c.11577C>T (p.Gly3859=) c.10482C>T (p.Gly3494=) c.11333C>T (p.Ala3778Val) c.6666C>T (p.Gly2222=) c.6219C>T (p.Gly2073=) c.5556C>T (p.Gly1852=) c.10071C>T (p.Gly3357=) | dbSNP |
5 | g.13735919G>C | CA443260359 | DNAH5 | c.11469C>G (p.Gly3823=) c.11424C>G (p.Gly3808=) c.11577C>G (p.Gly3859=) c.10482C>G (p.Gly3494=) c.11333C>G (p.Ala3778Gly) c.6666C>G (p.Gly2222=) c.6219C>G (p.Gly2073=) c.5556C>G (p.Gly1852=) c.10071C>G (p.Gly3357=) | dbSNP |
5 | g.13735919G= | CA1528415134 | DNAH5 | c.11469C= (p.Gly3823=) c.11424C= (p.Gly3808=) c.11577C= (p.Gly3859=) c.10482C= (p.Gly3494=) c.11333C= (p.Ala3778=) c.6666C= (p.Gly2222=) c.6219C= (p.Gly2073=) c.5556C= (p.Gly1852=) c.10071C= (p.Gly3357=) | |
5 | g.13735919G>T | CA443260360 | DNAH5 | c.11469C>A (p.Gly3823=) c.11424C>A (p.Gly3808=) c.11577C>A (p.Gly3859=) c.10482C>A (p.Gly3494=) c.11333C>A (p.Ala3778Glu) c.6666C>A (p.Gly2222=) c.6219C>A (p.Gly2073=) c.5556C>A (p.Gly1852=) c.10071C>A (p.Gly3357=) | gnomAD v4 |
5 | g.13735920C>A | CA359225264 | DNAH5 | c.11468G>T (p.Gly3823Val) c.11423G>T (p.Gly3808Val) c.11576G>T (p.Gly3859Val) c.10481G>T (p.Gly3494Val) c.11332G>T (p.Ala3778Ser) c.6665G>T (p.Gly2222Val) c.6218G>T (p.Gly2073Val) c.5555G>T (p.Gly1852Val) c.10070G>T (p.Gly3357Val) | |
5 | g.13735920C>G | CA359225267 | DNAH5 | c.11468G>C (p.Gly3823Ala) c.11423G>C (p.Gly3808Ala) c.11576G>C (p.Gly3859Ala) c.10481G>C (p.Gly3494Ala) c.11332G>C (p.Ala3778Pro) c.6665G>C (p.Gly2222Ala) c.6218G>C (p.Gly2073Ala) c.5555G>C (p.Gly1852Ala) c.10070G>C (p.Gly3357Ala) | |
5 | g.13735920C>T | CA359225271 | DNAH5 | c.11468G>A (p.Gly3823Asp) c.11423G>A (p.Gly3808Asp) c.11576G>A (p.Gly3859Asp) c.10481G>A (p.Gly3494Asp) c.11332G>A (p.Ala3778Thr) c.6665G>A (p.Gly2222Asp) c.6218G>A (p.Gly2073Asp) c.5555G>A (p.Gly1852Asp) c.10070G>A (p.Gly3357Asp) | |
5 | g.13735921C>A | CA359225278 | DNAH5 | c.11467G>T (p.Gly3823Cys) c.11422G>T (p.Gly3808Cys) c.11575G>T (p.Gly3859Cys) c.10480G>T (p.Gly3494Cys) c.11331G>T (p.Gly3777=) c.6664G>T (p.Gly2222Cys) c.6217G>T (p.Gly2073Cys) c.5554G>T (p.Gly1852Cys) c.10069G>T (p.Gly3357Cys) | |
5 | g.13735921C>G | CA359225280 | DNAH5 | c.11467G>C (p.Gly3823Arg) c.11422G>C (p.Gly3808Arg) c.11575G>C (p.Gly3859Arg) c.10480G>C (p.Gly3494Arg) c.11331G>C (p.Gly3777=) c.6664G>C (p.Gly2222Arg) c.6217G>C (p.Gly2073Arg) c.5554G>C (p.Gly1852Arg) c.10069G>C (p.Gly3357Arg) | |
5 | g.13735921C>T | CA359225283 | DNAH5 | c.11467G>A (p.Gly3823Ser) c.11422G>A (p.Gly3808Ser) c.11575G>A (p.Gly3859Ser) c.10480G>A (p.Gly3494Ser) c.11331G>A (p.Gly3777=) c.6664G>A (p.Gly2222Ser) c.6217G>A (p.Gly2073Ser) c.5554G>A (p.Gly1852Ser) c.10069G>A (p.Gly3357Ser) | |
5 | g.13735922C>A | CA443260366 | DNAH5 | c.11466G>T (p.Arg3822=) c.11421G>T (p.Arg3807=) c.11574G>T (p.Arg3858=) c.10479G>T (p.Arg3493=) c.11330G>T (p.Gly3777Val) c.6663G>T (p.Arg2221=) c.6216G>T (p.Arg2072=) c.5553G>T (p.Arg1851=) c.10068G>T (p.Arg3356=) | gnomAD v4 |
5 | g.13735922C>G | CA443260370 | DNAH5 | c.11466G>C (p.Arg3822=) c.11421G>C (p.Arg3807=) c.11574G>C (p.Arg3858=) c.10479G>C (p.Arg3493=) c.11330G>C (p.Gly3777Ala) c.6663G>C (p.Arg2221=) c.6216G>C (p.Arg2072=) c.5553G>C (p.Arg1851=) c.10068G>C (p.Arg3356=) | |
5 | g.13735922C>T | CA443260371 | DNAH5 | c.11466G>A (p.Arg3822=) c.11421G>A (p.Arg3807=) c.11574G>A (p.Arg3858=) c.10479G>A (p.Arg3493=) c.11330G>A (p.Gly3777Glu) c.6663G>A (p.Arg2221=) c.6216G>A (p.Arg2072=) c.5553G>A (p.Arg1851=) c.10068G>A (p.Arg3356=) | |
5 | g.13735923C>A | CA359225289 | DNAH5 | c.11465G>T (p.Arg3822Leu) c.11420G>T (p.Arg3807Leu) c.11573G>T (p.Arg3858Leu) c.10478G>T (p.Arg3493Leu) c.11329G>T (p.Gly3777Trp) c.6662G>T (p.Arg2221Leu) c.6215G>T (p.Arg2072Leu) c.5552G>T (p.Arg1851Leu) c.10067G>T (p.Arg3356Leu) | |
5 | g.13735923C= | CA1528415135 | DNAH5 | c.11465G= (p.Arg3822=) c.11420G= (p.Arg3807=) c.11573G= (p.Arg3858=) c.10478G= (p.Arg3493=) c.11329G= (p.Gly3777=) c.6662G= (p.Arg2221=) c.6215G= (p.Arg2072=) c.5552G= (p.Arg1851=) c.10067G= (p.Arg3356=) | |
5 | g.13735923C>G | CA359225293 | DNAH5 | c.11465G>C (p.Arg3822Pro) c.11420G>C (p.Arg3807Pro) c.11573G>C (p.Arg3858Pro) c.10478G>C (p.Arg3493Pro) c.11329G>C (p.Gly3777Arg) c.6662G>C (p.Arg2221Pro) c.6215G>C (p.Arg2072Pro) c.5552G>C (p.Arg1851Pro) c.10067G>C (p.Arg3356Pro) | |
5 | g.13735923C>T | CA3201945 | DNAH5 | c.11465G>A (p.Arg3822Gln) c.11420G>A (p.Arg3807Gln) c.11573G>A (p.Arg3858Gln) c.10478G>A (p.Arg3493Gln) c.11329G>A (p.Gly3777Arg) c.6662G>A (p.Arg2221Gln) c.6215G>A (p.Arg2072Gln) c.5552G>A (p.Arg1851Gln) c.10067G>A (p.Arg3356Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13735924G>A | CA3201946 | DNAH5 | c.11464C>T (p.Arg3822Trp) c.11419C>T (p.Arg3807Trp) c.11572C>T (p.Arg3858Trp) c.10477C>T (p.Arg3493Trp) c.11328C>T (p.Arg3776=) c.6661C>T (p.Arg2221Trp) c.6214C>T (p.Arg2072Trp) c.5551C>T (p.Arg1851Trp) c.10066C>T (p.Arg3356Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13735924G>C | CA359225302 | DNAH5 | c.11464C>G (p.Arg3822Gly) c.11419C>G (p.Arg3807Gly) c.11572C>G (p.Arg3858Gly) c.10477C>G (p.Arg3493Gly) c.11328C>G (p.Arg3776=) c.6661C>G (p.Arg2221Gly) c.6214C>G (p.Arg2072Gly) c.5551C>G (p.Arg1851Gly) c.10066C>G (p.Arg3356Gly) | |
5 | g.13735924G= | CA1528415136 | DNAH5 | c.11464C= (p.Arg3822=) c.11419C= (p.Arg3807=) c.11572C= (p.Arg3858=) c.10477C= (p.Arg3493=) c.11328C= (p.Arg3776=) c.6661C= (p.Arg2221=) c.6214C= (p.Arg2072=) c.5551C= (p.Arg1851=) c.10066C= (p.Arg3356=) | |
5 | g.13735924G>T | CA443260373 | DNAH5 | c.11464C>A (p.Arg3822=) c.11419C>A (p.Arg3807=) c.11572C>A (p.Arg3858=) c.10477C>A (p.Arg3493=) c.11328C>A (p.Arg3776=) c.6661C>A (p.Arg2221=) c.6214C>A (p.Arg2072=) c.5551C>A (p.Arg1851=) c.10066C>A (p.Arg3356=) | COSMIC |
5 | g.13735925C>A | CA443260375 | DNAH5 | c.11463G>T (p.Thr3821=) c.11418G>T (p.Thr3806=) c.11571G>T (p.Thr3857=) c.10476G>T (p.Thr3492=) c.11327G>T (p.Arg3776Leu) c.6660G>T (p.Thr2220=) c.6213G>T (p.Thr2071=) c.5550G>T (p.Thr1850=) c.10065G>T (p.Thr3355=) | |
5 | g.13735925C= | CA1528415137 | DNAH5 | c.11463G= (p.Thr3821=) c.11418G= (p.Thr3806=) c.11571G= (p.Thr3857=) c.10476G= (p.Thr3492=) c.11327G= (p.Arg3776=) c.6660G= (p.Thr2220=) c.6213G= (p.Thr2071=) c.5550G= (p.Thr1850=) c.10065G= (p.Thr3355=) | |
5 | g.13735925C>G | CA443260376 | DNAH5 | c.11463G>C (p.Thr3821=) c.11418G>C (p.Thr3806=) c.11571G>C (p.Thr3857=) c.10476G>C (p.Thr3492=) c.11327G>C (p.Arg3776Pro) c.6660G>C (p.Thr2220=) c.6213G>C (p.Thr2071=) c.5550G>C (p.Thr1850=) c.10065G>C (p.Thr3355=) | |
5 | g.13735925C>T | CA3201947 | DNAH5 | c.11463G>A (p.Thr3821=) c.11418G>A (p.Thr3806=) c.11571G>A (p.Thr3857=) c.10476G>A (p.Thr3492=) c.11327G>A (p.Arg3776His) c.6660G>A (p.Thr2220=) c.6213G>A (p.Thr2071=) c.5550G>A (p.Thr1850=) c.10065G>A (p.Thr3355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |