Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13708281T>A | CA359197831 | DNAH5 | n.513A>T c.13180A>T (p.Arg4394Trp) c.13135A>T (p.Arg4379Trp) c.13288A>T (p.Arg4430Trp) c.12868A>T (p.Arg4290Trp) c.12193A>T (p.Arg4065Trp) c.8377A>T (p.Arg2793Trp) c.7930A>T (p.Arg2644Trp) c.7267A>T (p.Arg2423Trp) c.11782A>T (p.Arg3928Trp) | |
5 | g.13708281T>C | CA359197838 | DNAH5 | n.513A>G c.13180A>G (p.Arg4394Gly) c.13135A>G (p.Arg4379Gly) c.13288A>G (p.Arg4430Gly) c.12868A>G (p.Arg4290Gly) c.12193A>G (p.Arg4065Gly) c.8377A>G (p.Arg2793Gly) c.7930A>G (p.Arg2644Gly) c.7267A>G (p.Arg2423Gly) c.11782A>G (p.Arg3928Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708281T>G | CA443251342 | DNAH5 | n.513A>C c.13180A>C (p.Arg4394=) c.13135A>C (p.Arg4379=) c.13288A>C (p.Arg4430=) c.12868A>C (p.Arg4290=) c.12193A>C (p.Arg4065=) c.8377A>C (p.Arg2793=) c.7930A>C (p.Arg2644=) c.7267A>C (p.Arg2423=) c.11782A>C (p.Arg3928=) | |
5 | g.13708281T= | CA1528403790 | DNAH5 | n.513A= c.13180A= (p.Arg4394=) c.13135A= (p.Arg4379=) c.13288A= (p.Arg4430=) c.12868A= (p.Arg4290=) c.12193A= (p.Arg4065=) c.8377A= (p.Arg2793=) c.7930A= (p.Arg2644=) c.7267A= (p.Arg2423=) c.11782A= (p.Arg3928=) | |
5 | g.13708282G>A | CA443251343 | DNAH5 | n.512C>T c.13179C>T (p.Leu4393=) c.13134C>T (p.Leu4378=) c.13287C>T (p.Leu4429=) c.12867C>T (p.Leu4289=) c.12192C>T (p.Leu4064=) c.8376C>T (p.Leu2792=) c.7929C>T (p.Leu2643=) c.7266C>T (p.Leu2422=) c.11781C>T (p.Leu3927=) | ClinVar |
5 | g.13708282G>C | CA443251344 | DNAH5 | n.512C>G c.13179C>G (p.Leu4393=) c.13134C>G (p.Leu4378=) c.13287C>G (p.Leu4429=) c.12867C>G (p.Leu4289=) c.12192C>G (p.Leu4064=) c.8376C>G (p.Leu2792=) c.7929C>G (p.Leu2643=) c.7266C>G (p.Leu2422=) c.11781C>G (p.Leu3927=) | |
5 | g.13708282G>T | CA443251345 | DNAH5 | n.512C>A c.13179C>A (p.Leu4393=) c.13134C>A (p.Leu4378=) c.13287C>A (p.Leu4429=) c.12867C>A (p.Leu4289=) c.12192C>A (p.Leu4064=) c.8376C>A (p.Leu2792=) c.7929C>A (p.Leu2643=) c.7266C>A (p.Leu2422=) c.11781C>A (p.Leu3927=) | |
5 | g.13708283A>C | CA359197844 | DNAH5 | n.511T>G c.13178T>G (p.Leu4393Arg) c.13133T>G (p.Leu4378Arg) c.13286T>G (p.Leu4429Arg) c.12866T>G (p.Leu4289Arg) c.12191T>G (p.Leu4064Arg) c.8375T>G (p.Leu2792Arg) c.7928T>G (p.Leu2643Arg) c.7265T>G (p.Leu2422Arg) c.11780T>G (p.Leu3927Arg) | |
5 | g.13708283A>G | CA359197854 | DNAH5 | n.511T>C c.13178T>C (p.Leu4393Pro) c.13133T>C (p.Leu4378Pro) c.13286T>C (p.Leu4429Pro) c.12866T>C (p.Leu4289Pro) c.12191T>C (p.Leu4064Pro) c.8375T>C (p.Leu2792Pro) c.7928T>C (p.Leu2643Pro) c.7265T>C (p.Leu2422Pro) c.11780T>C (p.Leu3927Pro) | |
5 | g.13708283A>T | CA359197849 | DNAH5 | n.511T>A c.13178T>A (p.Leu4393His) c.13133T>A (p.Leu4378His) c.13286T>A (p.Leu4429His) c.12866T>A (p.Leu4289His) c.12191T>A (p.Leu4064His) c.8375T>A (p.Leu2792His) c.7928T>A (p.Leu2643His) c.7265T>A (p.Leu2422His) c.11780T>A (p.Leu3927His) | |
5 | g.13708284G>A | CA359197859 | DNAH5 | n.510C>T c.13177C>T (p.Leu4393Phe) c.13132C>T (p.Leu4378Phe) c.13285C>T (p.Leu4429Phe) c.12865C>T (p.Leu4289Phe) c.12190C>T (p.Leu4064Phe) c.8374C>T (p.Leu2792Phe) c.7927C>T (p.Leu2643Phe) c.7264C>T (p.Leu2422Phe) c.11779C>T (p.Leu3927Phe) | dbSNP gnomAD v4 |
5 | g.13708284G>C | CA359197861 | DNAH5 | n.510C>G c.13177C>G (p.Leu4393Val) c.13132C>G (p.Leu4378Val) c.13285C>G (p.Leu4429Val) c.12865C>G (p.Leu4289Val) c.12190C>G (p.Leu4064Val) c.8374C>G (p.Leu2792Val) c.7927C>G (p.Leu2643Val) c.7264C>G (p.Leu2422Val) c.11779C>G (p.Leu3927Val) | |
5 | g.13708284G= | CA1528403791 | DNAH5 | n.510C= c.13177C= (p.Leu4393=) c.13132C= (p.Leu4378=) c.13285C= (p.Leu4429=) c.12865C= (p.Leu4289=) c.12190C= (p.Leu4064=) c.8374C= (p.Leu2792=) c.7927C= (p.Leu2643=) c.7264C= (p.Leu2422=) c.11779C= (p.Leu3927=) | |
5 | g.13708284G>T | CA359197863 | DNAH5 | n.510C>A c.13177C>A (p.Leu4393Ile) c.13132C>A (p.Leu4378Ile) c.13285C>A (p.Leu4429Ile) c.12865C>A (p.Leu4289Ile) c.12190C>A (p.Leu4064Ile) c.8374C>A (p.Leu2792Ile) c.7927C>A (p.Leu2643Ile) c.7264C>A (p.Leu2422Ile) c.11779C>A (p.Leu3927Ile) | |
5 | g.13708285G>A | CA443251348 | DNAH5 | n.509C>T c.13176C>T (p.Phe4392=) c.13131C>T (p.Phe4377=) c.13284C>T (p.Phe4428=) c.12864C>T (p.Phe4288=) c.12189C>T (p.Phe4063=) c.8373C>T (p.Phe2791=) c.7926C>T (p.Phe2642=) c.7263C>T (p.Phe2421=) c.11778C>T (p.Phe3926=) | dbSNP COSMIC |
5 | g.13708285G>C | CA359197868 | DNAH5 | n.509C>G c.13176C>G (p.Phe4392Leu) c.13131C>G (p.Phe4377Leu) c.13284C>G (p.Phe4428Leu) c.12864C>G (p.Phe4288Leu) c.12189C>G (p.Phe4063Leu) c.8373C>G (p.Phe2791Leu) c.7926C>G (p.Phe2642Leu) c.7263C>G (p.Phe2421Leu) c.11778C>G (p.Phe3926Leu) | |
5 | g.13708285G= | CA1528403792 | DNAH5 | n.509C= c.13176C= (p.Phe4392=) c.13131C= (p.Phe4377=) c.13284C= (p.Phe4428=) c.12864C= (p.Phe4288=) c.12189C= (p.Phe4063=) c.8373C= (p.Phe2791=) c.7926C= (p.Phe2642=) c.7263C= (p.Phe2421=) c.11778C= (p.Phe3926=) | |
5 | g.13708285G>T | CA359197876 | DNAH5 | n.509C>A c.13176C>A (p.Phe4392Leu) c.13131C>A (p.Phe4377Leu) c.13284C>A (p.Phe4428Leu) c.12864C>A (p.Phe4288Leu) c.12189C>A (p.Phe4063Leu) c.8373C>A (p.Phe2791Leu) c.7926C>A (p.Phe2642Leu) c.7263C>A (p.Phe2421Leu) c.11778C>A (p.Phe3926Leu) | |
5 | g.13708286A= | CA1528403793 | DNAH5 | n.508T= c.13175T= (p.Phe4392=) c.13130T= (p.Phe4377=) c.13283T= (p.Phe4428=) c.12863T= (p.Phe4288=) c.12188T= (p.Phe4063=) c.8372T= (p.Phe2791=) c.7925T= (p.Phe2642=) c.7262T= (p.Phe2421=) c.11777T= (p.Phe3926=) | |
5 | g.13708286A>C | CA3201427 | DNAH5 | n.508T>G c.13175T>G (p.Phe4392Cys) c.13130T>G (p.Phe4377Cys) c.13283T>G (p.Phe4428Cys) c.12863T>G (p.Phe4288Cys) c.12188T>G (p.Phe4063Cys) c.8372T>G (p.Phe2791Cys) c.7925T>G (p.Phe2642Cys) c.7262T>G (p.Phe2421Cys) c.11777T>G (p.Phe3926Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708286A>G | CA359197880 | DNAH5 | n.508T>C c.13175T>C (p.Phe4392Ser) c.13130T>C (p.Phe4377Ser) c.13283T>C (p.Phe4428Ser) c.12863T>C (p.Phe4288Ser) c.12188T>C (p.Phe4063Ser) c.8372T>C (p.Phe2791Ser) c.7925T>C (p.Phe2642Ser) c.7262T>C (p.Phe2421Ser) c.11777T>C (p.Phe3926Ser) | |
5 | g.13708286A>T | CA359197881 | DNAH5 | n.508T>A c.13175T>A (p.Phe4392Tyr) c.13130T>A (p.Phe4377Tyr) c.13283T>A (p.Phe4428Tyr) c.12863T>A (p.Phe4288Tyr) c.12188T>A (p.Phe4063Tyr) c.8372T>A (p.Phe2791Tyr) c.7925T>A (p.Phe2642Tyr) c.7262T>A (p.Phe2421Tyr) c.11777T>A (p.Phe3926Tyr) | |
5 | g.13708287A= | CA1528403794 | DNAH5 | n.507T= c.13174T= (p.Phe4392=) c.13129T= (p.Phe4377=) c.13282T= (p.Phe4428=) c.12862T= (p.Phe4288=) c.12187T= (p.Phe4063=) c.8371T= (p.Phe2791=) c.7924T= (p.Phe2642=) c.7261T= (p.Phe2421=) c.11776T= (p.Phe3926=) | |
5 | g.13708287A>C | CA359197885 | DNAH5 | n.507T>G c.13174T>G (p.Phe4392Val) c.13129T>G (p.Phe4377Val) c.13282T>G (p.Phe4428Val) c.12862T>G (p.Phe4288Val) c.12187T>G (p.Phe4063Val) c.8371T>G (p.Phe2791Val) c.7924T>G (p.Phe2642Val) c.7261T>G (p.Phe2421Val) c.11776T>G (p.Phe3926Val) | |
5 | g.13708287A>G | CA3201428 | DNAH5 | n.507T>C c.13174T>C (p.Phe4392Leu) c.13129T>C (p.Phe4377Leu) c.13282T>C (p.Phe4428Leu) c.12862T>C (p.Phe4288Leu) c.12187T>C (p.Phe4063Leu) c.8371T>C (p.Phe2791Leu) c.7924T>C (p.Phe2642Leu) c.7261T>C (p.Phe2421Leu) c.11776T>C (p.Phe3926Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708287A>T | CA359197890 | DNAH5 | n.507T>A c.13174T>A (p.Phe4392Ile) c.13129T>A (p.Phe4377Ile) c.13282T>A (p.Phe4428Ile) c.12862T>A (p.Phe4288Ile) c.12187T>A (p.Phe4063Ile) c.8371T>A (p.Phe2791Ile) c.7924T>A (p.Phe2642Ile) c.7261T>A (p.Phe2421Ile) c.11776T>A (p.Phe3926Ile) | |
5 | g.13708288A>C | CA359197893 | DNAH5 | n.506T>G c.13173T>G (p.Ile4391Met) c.13128T>G (p.Ile4376Met) c.13281T>G (p.Ile4427Met) c.12861T>G (p.Ile4287Met) c.12186T>G (p.Ile4062Met) c.8370T>G (p.Ile2790Met) c.7923T>G (p.Ile2641Met) c.7260T>G (p.Ile2420Met) c.11775T>G (p.Ile3925Met) | |
5 | g.13708288A>G | CA443251353 | DNAH5 | n.506T>C c.13173T>C (p.Ile4391=) c.13128T>C (p.Ile4376=) c.13281T>C (p.Ile4427=) c.12861T>C (p.Ile4287=) c.12186T>C (p.Ile4062=) c.8370T>C (p.Ile2790=) c.7923T>C (p.Ile2641=) c.7260T>C (p.Ile2420=) c.11775T>C (p.Ile3925=) | |
5 | g.13708288A>T | CA443251355 | DNAH5 | n.506T>A c.13173T>A (p.Ile4391=) c.13128T>A (p.Ile4376=) c.13281T>A (p.Ile4427=) c.12861T>A (p.Ile4287=) c.12186T>A (p.Ile4062=) c.8370T>A (p.Ile2790=) c.7923T>A (p.Ile2641=) c.7260T>A (p.Ile2420=) c.11775T>A (p.Ile3925=) | |
5 | g.13708289A>C | CA359197896 | DNAH5 | n.505T>G c.13172T>G (p.Ile4391Ser) c.13127T>G (p.Ile4376Ser) c.13280T>G (p.Ile4427Ser) c.12860T>G (p.Ile4287Ser) c.12185T>G (p.Ile4062Ser) c.8369T>G (p.Ile2790Ser) c.7922T>G (p.Ile2641Ser) c.7259T>G (p.Ile2420Ser) c.11774T>G (p.Ile3925Ser) | gnomAD v4 |
5 | g.13708289A>G | CA359197894 | DNAH5 | n.505T>C c.13172T>C (p.Ile4391Thr) c.13127T>C (p.Ile4376Thr) c.13280T>C (p.Ile4427Thr) c.12860T>C (p.Ile4287Thr) c.12185T>C (p.Ile4062Thr) c.8369T>C (p.Ile2790Thr) c.7922T>C (p.Ile2641Thr) c.7259T>C (p.Ile2420Thr) c.11774T>C (p.Ile3925Thr) | |
5 | g.13708289A>T | CA359197897 | DNAH5 | n.505T>A c.13172T>A (p.Ile4391Asn) c.13127T>A (p.Ile4376Asn) c.13280T>A (p.Ile4427Asn) c.12860T>A (p.Ile4287Asn) c.12185T>A (p.Ile4062Asn) c.8369T>A (p.Ile2790Asn) c.7922T>A (p.Ile2641Asn) c.7259T>A (p.Ile2420Asn) c.11774T>A (p.Ile3925Asn) | COSMIC |
5 | g.13708290T>A | CA359197903 | DNAH5 | n.504A>T c.13171A>T (p.Ile4391Phe) c.13126A>T (p.Ile4376Phe) c.13279A>T (p.Ile4427Phe) c.12859A>T (p.Ile4287Phe) c.12184A>T (p.Ile4062Phe) c.8368A>T (p.Ile2790Phe) c.7921A>T (p.Ile2641Phe) c.7258A>T (p.Ile2420Phe) c.11773A>T (p.Ile3925Phe) | |
5 | g.13708290T>C | CA359197910 | DNAH5 | n.504A>G c.13171A>G (p.Ile4391Val) c.13126A>G (p.Ile4376Val) c.13279A>G (p.Ile4427Val) c.12859A>G (p.Ile4287Val) c.12184A>G (p.Ile4062Val) c.8368A>G (p.Ile2790Val) c.7921A>G (p.Ile2641Val) c.7258A>G (p.Ile2420Val) c.11773A>G (p.Ile3925Val) | gnomAD v4 |
5 | g.13708290T>G | CA359197924 | DNAH5 | n.504A>C c.13171A>C (p.Ile4391Leu) c.13126A>C (p.Ile4376Leu) c.13279A>C (p.Ile4427Leu) c.12859A>C (p.Ile4287Leu) c.12184A>C (p.Ile4062Leu) c.8368A>C (p.Ile2790Leu) c.7921A>C (p.Ile2641Leu) c.7258A>C (p.Ile2420Leu) c.11773A>C (p.Ile3925Leu) | |
5 | g.13708291G>A | CA443251358 | DNAH5 | n.503C>T c.13170C>T (p.Asn4390=) c.13125C>T (p.Asn4375=) c.13278C>T (p.Asn4426=) c.12858C>T (p.Asn4286=) c.12183C>T (p.Asn4061=) c.8367C>T (p.Asn2789=) c.7920C>T (p.Asn2640=) c.7257C>T (p.Asn2419=) c.11772C>T (p.Asn3924=) | gnomAD v4 |
5 | g.13708291G>C | CA359197927 | DNAH5 | n.503C>G c.13170C>G (p.Asn4390Lys) c.13125C>G (p.Asn4375Lys) c.13278C>G (p.Asn4426Lys) c.12858C>G (p.Asn4286Lys) c.12183C>G (p.Asn4061Lys) c.8367C>G (p.Asn2789Lys) c.7920C>G (p.Asn2640Lys) c.7257C>G (p.Asn2419Lys) c.11772C>G (p.Asn3924Lys) | |
5 | g.13708291G>T | CA359197934 | DNAH5 | n.503C>A c.13170C>A (p.Asn4390Lys) c.13125C>A (p.Asn4375Lys) c.13278C>A (p.Asn4426Lys) c.12858C>A (p.Asn4286Lys) c.12183C>A (p.Asn4061Lys) c.8367C>A (p.Asn2789Lys) c.7920C>A (p.Asn2640Lys) c.7257C>A (p.Asn2419Lys) c.11772C>A (p.Asn3924Lys) | |
5 | g.13708292T>A | CA359197944 | DNAH5 | n.502A>T c.13169A>T (p.Asn4390Ile) c.13124A>T (p.Asn4375Ile) c.13277A>T (p.Asn4426Ile) c.12857A>T (p.Asn4286Ile) c.12182A>T (p.Asn4061Ile) c.8366A>T (p.Asn2789Ile) c.7919A>T (p.Asn2640Ile) c.7256A>T (p.Asn2419Ile) c.11771A>T (p.Asn3924Ile) | |
5 | g.13708292T>C | CA359197952 | DNAH5 | n.502A>G c.13169A>G (p.Asn4390Ser) c.13124A>G (p.Asn4375Ser) c.13277A>G (p.Asn4426Ser) c.12857A>G (p.Asn4286Ser) c.12182A>G (p.Asn4061Ser) c.8366A>G (p.Asn2789Ser) c.7919A>G (p.Asn2640Ser) c.7256A>G (p.Asn2419Ser) c.11771A>G (p.Asn3924Ser) | |
5 | g.13708292T>G | CA359197967 | DNAH5 | n.502A>C c.13169A>C (p.Asn4390Thr) c.13124A>C (p.Asn4375Thr) c.13277A>C (p.Asn4426Thr) c.12857A>C (p.Asn4286Thr) c.12182A>C (p.Asn4061Thr) c.8366A>C (p.Asn2789Thr) c.7919A>C (p.Asn2640Thr) c.7256A>C (p.Asn2419Thr) c.11771A>C (p.Asn3924Thr) | |
5 | g.13708293T>A | CA359197976 | DNAH5 | n.501A>T c.13168A>T (p.Asn4390Tyr) c.13123A>T (p.Asn4375Tyr) c.13276A>T (p.Asn4426Tyr) c.12856A>T (p.Asn4286Tyr) c.12181A>T (p.Asn4061Tyr) c.8365A>T (p.Asn2789Tyr) c.7918A>T (p.Asn2640Tyr) c.7255A>T (p.Asn2419Tyr) c.11770A>T (p.Asn3924Tyr) | |
5 | g.13708293T>C | CA359197980 | DNAH5 | n.501A>G c.13168A>G (p.Asn4390Asp) c.13123A>G (p.Asn4375Asp) c.13276A>G (p.Asn4426Asp) c.12856A>G (p.Asn4286Asp) c.12181A>G (p.Asn4061Asp) c.8365A>G (p.Asn2789Asp) c.7918A>G (p.Asn2640Asp) c.7255A>G (p.Asn2419Asp) c.11770A>G (p.Asn3924Asp) | |
5 | g.13708293T>G | CA359197987 | DNAH5 | n.501A>C c.13168A>C (p.Asn4390His) c.13123A>C (p.Asn4375His) c.13276A>C (p.Asn4426His) c.12856A>C (p.Asn4286His) c.12181A>C (p.Asn4061His) c.8365A>C (p.Asn2789His) c.7918A>C (p.Asn2640His) c.7255A>C (p.Asn2419His) c.11770A>C (p.Asn3924His) | |
5 | g.13708294C>A | CA3201429 | DNAH5 | n.500G>T c.13167G>T (p.Met4389Ile) c.13122G>T (p.Met4374Ile) c.13275G>T (p.Met4425Ile) c.12855G>T (p.Met4285Ile) c.12180G>T (p.Met4060Ile) c.8364G>T (p.Met2788Ile) c.7917G>T (p.Met2639Ile) c.7254G>T (p.Met2418Ile) c.11769G>T (p.Met3923Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13708294C= | CA1528403795 | DNAH5 | n.500G= c.13167G= (p.Met4389=) c.13122G= (p.Met4374=) c.13275G= (p.Met4425=) c.12855G= (p.Met4285=) c.12180G= (p.Met4060=) c.8364G= (p.Met2788=) c.7917G= (p.Met2639=) c.7254G= (p.Met2418=) c.11769G= (p.Met3923=) | |
5 | g.13708294C>G | CA359197991 | DNAH5 | n.500G>C c.13167G>C (p.Met4389Ile) c.13122G>C (p.Met4374Ile) c.13275G>C (p.Met4425Ile) c.12855G>C (p.Met4285Ile) c.12180G>C (p.Met4060Ile) c.8364G>C (p.Met2788Ile) c.7917G>C (p.Met2639Ile) c.7254G>C (p.Met2418Ile) c.11769G>C (p.Met3923Ile) | |
5 | g.13708294C>T | CA113911062 | DNAH5 | n.500G>A c.13167G>A (p.Met4389Ile) c.13122G>A (p.Met4374Ile) c.13275G>A (p.Met4425Ile) c.12855G>A (p.Met4285Ile) c.12180G>A (p.Met4060Ile) c.8364G>A (p.Met2788Ile) c.7917G>A (p.Met2639Ile) c.7254G>A (p.Met2418Ile) c.11769G>A (p.Met3923Ile) | dbSNP |
5 | g.13708295A= | CA1528403796 | DNAH5 | n.499T= c.13166T= (p.Met4389=) c.13121T= (p.Met4374=) c.13274T= (p.Met4425=) c.12854T= (p.Met4285=) c.12179T= (p.Met4060=) c.8363T= (p.Met2788=) c.7916T= (p.Met2639=) c.7253T= (p.Met2418=) c.11768T= (p.Met3923=) | |
5 | g.13708295A>C | CA359197999 | DNAH5 | n.499T>G c.13166T>G (p.Met4389Arg) c.13121T>G (p.Met4374Arg) c.13274T>G (p.Met4425Arg) c.12854T>G (p.Met4285Arg) c.12179T>G (p.Met4060Arg) c.8363T>G (p.Met2788Arg) c.7916T>G (p.Met2639Arg) c.7253T>G (p.Met2418Arg) c.11768T>G (p.Met3923Arg) | |
5 | g.13708295A>G | CA3201430 | DNAH5 | n.499T>C c.13166T>C (p.Met4389Thr) c.13121T>C (p.Met4374Thr) c.13274T>C (p.Met4425Thr) c.12854T>C (p.Met4285Thr) c.12179T>C (p.Met4060Thr) c.8363T>C (p.Met2788Thr) c.7916T>C (p.Met2639Thr) c.7253T>C (p.Met2418Thr) c.11768T>C (p.Met3923Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13708295A>T | CA359198024 | DNAH5 | n.499T>A c.13166T>A (p.Met4389Lys) c.13121T>A (p.Met4374Lys) c.13274T>A (p.Met4425Lys) c.12854T>A (p.Met4285Lys) c.12179T>A (p.Met4060Lys) c.8363T>A (p.Met2788Lys) c.7916T>A (p.Met2639Lys) c.7253T>A (p.Met2418Lys) c.11768T>A (p.Met3923Lys) | |
5 | g.13708296T>A | CA359198038 | DNAH5 | n.498A>T c.13165A>T (p.Met4389Leu) c.13120A>T (p.Met4374Leu) c.13273A>T (p.Met4425Leu) c.12853A>T (p.Met4285Leu) c.12178A>T (p.Met4060Leu) c.8362A>T (p.Met2788Leu) c.7915A>T (p.Met2639Leu) c.7252A>T (p.Met2418Leu) c.11767A>T (p.Met3923Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13708296T>C | CA3201431 | DNAH5 | n.498A>G c.13165A>G (p.Met4389Val) c.13120A>G (p.Met4374Val) c.13273A>G (p.Met4425Val) c.12853A>G (p.Met4285Val) c.12178A>G (p.Met4060Val) c.8362A>G (p.Met2788Val) c.7915A>G (p.Met2639Val) c.7252A>G (p.Met2418Val) c.11767A>G (p.Met3923Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13708296T>G | CA359198054 | DNAH5 | n.498A>C c.13165A>C (p.Met4389Leu) c.13120A>C (p.Met4374Leu) c.13273A>C (p.Met4425Leu) c.12853A>C (p.Met4285Leu) c.12178A>C (p.Met4060Leu) c.8362A>C (p.Met2788Leu) c.7915A>C (p.Met2639Leu) c.7252A>C (p.Met2418Leu) c.11767A>C (p.Met3923Leu) | |
5 | g.13708296T= | CA1528403797 | DNAH5 | n.498A= c.13165A= (p.Met4389=) c.13120A= (p.Met4374=) c.13273A= (p.Met4425=) c.12853A= (p.Met4285=) c.12178A= (p.Met4060=) c.8362A= (p.Met2788=) c.7915A= (p.Met2639=) c.7252A= (p.Met2418=) c.11767A= (p.Met3923=) | |
5 | g.13708297A>C | CA443251365 | DNAH5 | n.497T>G c.13164T>G (p.Pro4388=) c.13119T>G (p.Pro4373=) c.13272T>G (p.Pro4424=) c.12852T>G (p.Pro4284=) c.12177T>G (p.Pro4059=) c.8361T>G (p.Pro2787=) c.7914T>G (p.Pro2638=) c.7251T>G (p.Pro2417=) c.11766T>G (p.Pro3922=) | |
5 | g.13708297A>G | CA443251363 | DNAH5 | n.497T>C c.13164T>C (p.Pro4388=) c.13119T>C (p.Pro4373=) c.13272T>C (p.Pro4424=) c.12852T>C (p.Pro4284=) c.12177T>C (p.Pro4059=) c.8361T>C (p.Pro2787=) c.7914T>C (p.Pro2638=) c.7251T>C (p.Pro2417=) c.11766T>C (p.Pro3922=) | |
5 | g.13708297A>T | CA443251362 | DNAH5 | n.497T>A c.13164T>A (p.Pro4388=) c.13119T>A (p.Pro4373=) c.13272T>A (p.Pro4424=) c.12852T>A (p.Pro4284=) c.12177T>A (p.Pro4059=) c.8361T>A (p.Pro2787=) c.7914T>A (p.Pro2638=) c.7251T>A (p.Pro2417=) c.11766T>A (p.Pro3922=) | ClinVar dbSNP |
5 | g.13708298G>A | CA359198058 | DNAH5 | n.496C>T c.13163C>T (p.Pro4388Leu) c.13118C>T (p.Pro4373Leu) c.13271C>T (p.Pro4424Leu) c.12851C>T (p.Pro4284Leu) c.12176C>T (p.Pro4059Leu) c.8360C>T (p.Pro2787Leu) c.7913C>T (p.Pro2638Leu) c.7250C>T (p.Pro2417Leu) c.11765C>T (p.Pro3922Leu) | |
5 | g.13708298G>C | CA359198063 | DNAH5 | n.496C>G c.13163C>G (p.Pro4388Arg) c.13118C>G (p.Pro4373Arg) c.13271C>G (p.Pro4424Arg) c.12851C>G (p.Pro4284Arg) c.12176C>G (p.Pro4059Arg) c.8360C>G (p.Pro2787Arg) c.7913C>G (p.Pro2638Arg) c.7250C>G (p.Pro2417Arg) c.11765C>G (p.Pro3922Arg) | |
5 | g.13708298G>T | CA359198067 | DNAH5 | n.496C>A c.13163C>A (p.Pro4388His) c.13118C>A (p.Pro4373His) c.13271C>A (p.Pro4424His) c.12851C>A (p.Pro4284His) c.12176C>A (p.Pro4059His) c.8360C>A (p.Pro2787His) c.7913C>A (p.Pro2638His) c.7250C>A (p.Pro2417His) c.11765C>A (p.Pro3922His) | |
5 | g.13708299G>A | CA359198068 | DNAH5 | n.495C>T c.13162C>T (p.Pro4388Ser) c.13117C>T (p.Pro4373Ser) c.13270C>T (p.Pro4424Ser) c.12850C>T (p.Pro4284Ser) c.12175C>T (p.Pro4059Ser) c.8359C>T (p.Pro2787Ser) c.7912C>T (p.Pro2638Ser) c.7249C>T (p.Pro2417Ser) c.11764C>T (p.Pro3922Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13708299G>C | CA359198069 | DNAH5 | n.495C>G c.13162C>G (p.Pro4388Ala) c.13117C>G (p.Pro4373Ala) c.13270C>G (p.Pro4424Ala) c.12850C>G (p.Pro4284Ala) c.12175C>G (p.Pro4059Ala) c.8359C>G (p.Pro2787Ala) c.7912C>G (p.Pro2638Ala) c.7249C>G (p.Pro2417Ala) c.11764C>G (p.Pro3922Ala) | |
5 | g.13708299G= | CA1528403798 | DNAH5 | n.495C= c.13162C= (p.Pro4388=) c.13117C= (p.Pro4373=) c.13270C= (p.Pro4424=) c.12850C= (p.Pro4284=) c.12175C= (p.Pro4059=) c.8359C= (p.Pro2787=) c.7912C= (p.Pro2638=) c.7249C= (p.Pro2417=) c.11764C= (p.Pro3922=) | |
5 | g.13708299G>T | CA359198073 | DNAH5 | n.495C>A c.13162C>A (p.Pro4388Thr) c.13117C>A (p.Pro4373Thr) c.13270C>A (p.Pro4424Thr) c.12850C>A (p.Pro4284Thr) c.12175C>A (p.Pro4059Thr) c.8359C>A (p.Pro2787Thr) c.7912C>A (p.Pro2638Thr) c.7249C>A (p.Pro2417Thr) c.11764C>A (p.Pro3922Thr) | |
5 | g.13708300C>A | CA359198078 | DNAH5 | n.494G>T c.13161G>T (p.Gln4387His) c.13116G>T (p.Gln4372His) c.13269G>T (p.Gln4423His) c.12849G>T (p.Gln4283His) c.12174G>T (p.Gln4058His) c.8358G>T (p.Gln2786His) c.7911G>T (p.Gln2637His) c.7248G>T (p.Gln2416His) c.11763G>T (p.Gln3921His) | |
5 | g.13708300C>G | CA359198077 | DNAH5 | n.494G>C c.13161G>C (p.Gln4387His) c.13116G>C (p.Gln4372His) c.13269G>C (p.Gln4423His) c.12849G>C (p.Gln4283His) c.12174G>C (p.Gln4058His) c.8358G>C (p.Gln2786His) c.7911G>C (p.Gln2637His) c.7248G>C (p.Gln2416His) c.11763G>C (p.Gln3921His) | |
5 | g.13708300C>T | CA443251367 | DNAH5 | n.494G>A c.13161G>A (p.Gln4387=) c.13116G>A (p.Gln4372=) c.13269G>A (p.Gln4423=) c.12849G>A (p.Gln4283=) c.12174G>A (p.Gln4058=) c.8358G>A (p.Gln2786=) c.7911G>A (p.Gln2637=) c.7248G>A (p.Gln2416=) c.11763G>A (p.Gln3921=) | |
5 | g.13708301T>A | CA359198079 | DNAH5 | n.493A>T c.13160A>T (p.Gln4387Leu) c.13115A>T (p.Gln4372Leu) c.13268A>T (p.Gln4423Leu) c.12848A>T (p.Gln4283Leu) c.12173A>T (p.Gln4058Leu) c.8357A>T (p.Gln2786Leu) c.7910A>T (p.Gln2637Leu) c.7247A>T (p.Gln2416Leu) c.11762A>T (p.Gln3921Leu) | |
5 | g.13708301T>C | CA359198081 | DNAH5 | n.493A>G c.13160A>G (p.Gln4387Arg) c.13115A>G (p.Gln4372Arg) c.13268A>G (p.Gln4423Arg) c.12848A>G (p.Gln4283Arg) c.12173A>G (p.Gln4058Arg) c.8357A>G (p.Gln2786Arg) c.7910A>G (p.Gln2637Arg) c.7247A>G (p.Gln2416Arg) c.11762A>G (p.Gln3921Arg) | |
5 | g.13708301T>G | CA359198082 | DNAH5 | n.493A>C c.13160A>C (p.Gln4387Pro) c.13115A>C (p.Gln4372Pro) c.13268A>C (p.Gln4423Pro) c.12848A>C (p.Gln4283Pro) c.12173A>C (p.Gln4058Pro) c.8357A>C (p.Gln2786Pro) c.7910A>C (p.Gln2637Pro) c.7247A>C (p.Gln2416Pro) c.11762A>C (p.Gln3921Pro) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13708301T= | CA1528403799 | DNAH5 | n.493A= c.13160A= (p.Gln4387=) c.13115A= (p.Gln4372=) c.13268A= (p.Gln4423=) c.12848A= (p.Gln4283=) c.12173A= (p.Gln4058=) c.8357A= (p.Gln2786=) c.7910A= (p.Gln2637=) c.7247A= (p.Gln2416=) c.11762A= (p.Gln3921=) | |
5 | g.13708302G>A | CA359198088 | DNAH5 | n.492C>T c.13159C>T (p.Gln4387Ter) c.13114C>T (p.Gln4372Ter) c.13267C>T (p.Gln4423Ter) c.12847C>T (p.Gln4283Ter) c.12172C>T (p.Gln4058Ter) c.8356C>T (p.Gln2786Ter) c.7909C>T (p.Gln2637Ter) c.7246C>T (p.Gln2416Ter) c.11761C>T (p.Gln3921Ter) | ClinVar dbSNP COSMIC |
5 | g.13708302G>C | CA359198092 | DNAH5 | n.492C>G c.13159C>G (p.Gln4387Glu) c.13114C>G (p.Gln4372Glu) c.13267C>G (p.Gln4423Glu) c.12847C>G (p.Gln4283Glu) c.12172C>G (p.Gln4058Glu) c.8356C>G (p.Gln2786Glu) c.7909C>G (p.Gln2637Glu) c.7246C>G (p.Gln2416Glu) c.11761C>G (p.Gln3921Glu) | |
5 | g.13708302G= | CA1528403800 | DNAH5 | n.492C= c.13159C= (p.Gln4387=) c.13114C= (p.Gln4372=) c.13267C= (p.Gln4423=) c.12847C= (p.Gln4283=) c.12172C= (p.Gln4058=) c.8356C= (p.Gln2786=) c.7909C= (p.Gln2637=) c.7246C= (p.Gln2416=) c.11761C= (p.Gln3921=) | |
5 | g.13708302G>T | CA359198095 | DNAH5 | n.492C>A c.13159C>A (p.Gln4387Lys) c.13114C>A (p.Gln4372Lys) c.13267C>A (p.Gln4423Lys) c.12847C>A (p.Gln4283Lys) c.12172C>A (p.Gln4058Lys) c.8356C>A (p.Gln2786Lys) c.7909C>A (p.Gln2637Lys) c.7246C>A (p.Gln2416Lys) c.11761C>A (p.Gln3921Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708303G>A | CA3201432 | DNAH5 | n.491C>T c.13158C>T (p.Phe4386=) c.13113C>T (p.Phe4371=) c.13266C>T (p.Phe4422=) c.12846C>T (p.Phe4282=) c.12171C>T (p.Phe4057=) c.8355C>T (p.Phe2785=) c.7908C>T (p.Phe2636=) c.7245C>T (p.Phe2415=) c.11760C>T (p.Phe3920=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13708303G>C | CA359198096 | DNAH5 | n.491C>G c.13158C>G (p.Phe4386Leu) c.13113C>G (p.Phe4371Leu) c.13266C>G (p.Phe4422Leu) c.12846C>G (p.Phe4282Leu) c.12171C>G (p.Phe4057Leu) c.8355C>G (p.Phe2785Leu) c.7908C>G (p.Phe2636Leu) c.7245C>G (p.Phe2415Leu) c.11760C>G (p.Phe3920Leu) | |
5 | g.13708303G= | CA1528403801 | DNAH5 | n.491C= c.13158C= (p.Phe4386=) c.13113C= (p.Phe4371=) c.13266C= (p.Phe4422=) c.12846C= (p.Phe4282=) c.12171C= (p.Phe4057=) c.8355C= (p.Phe2785=) c.7908C= (p.Phe2636=) c.7245C= (p.Phe2415=) c.11760C= (p.Phe3920=) | |
5 | g.13708303G>T | CA359198101 | DNAH5 | n.491C>A c.13158C>A (p.Phe4386Leu) c.13113C>A (p.Phe4371Leu) c.13266C>A (p.Phe4422Leu) c.12846C>A (p.Phe4282Leu) c.12171C>A (p.Phe4057Leu) c.8355C>A (p.Phe2785Leu) c.7908C>A (p.Phe2636Leu) c.7245C>A (p.Phe2415Leu) c.11760C>A (p.Phe3920Leu) | |
5 | g.13708304A= | CA1528403802 | DNAH5 | n.490T= c.13157T= (p.Phe4386=) c.13112T= (p.Phe4371=) c.13265T= (p.Phe4422=) c.12845T= (p.Phe4282=) c.12170T= (p.Phe4057=) c.8354T= (p.Phe2785=) c.7907T= (p.Phe2636=) c.7244T= (p.Phe2415=) c.11759T= (p.Phe3920=) | |
5 | g.13708304A>C | CA113911102 | DNAH5 | n.490T>G c.13157T>G (p.Phe4386Cys) c.13112T>G (p.Phe4371Cys) c.13265T>G (p.Phe4422Cys) c.12845T>G (p.Phe4282Cys) c.12170T>G (p.Phe4057Cys) c.8354T>G (p.Phe2785Cys) c.7907T>G (p.Phe2636Cys) c.7244T>G (p.Phe2415Cys) c.11759T>G (p.Phe3920Cys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13708304A>G | CA359198123 | DNAH5 | n.490T>C c.13157T>C (p.Phe4386Ser) c.13112T>C (p.Phe4371Ser) c.13265T>C (p.Phe4422Ser) c.12845T>C (p.Phe4282Ser) c.12170T>C (p.Phe4057Ser) c.8354T>C (p.Phe2785Ser) c.7907T>C (p.Phe2636Ser) c.7244T>C (p.Phe2415Ser) c.11759T>C (p.Phe3920Ser) | dbSNP |
5 | g.13708304A>T | CA359198134 | DNAH5 | n.490T>A c.13157T>A (p.Phe4386Tyr) c.13112T>A (p.Phe4371Tyr) c.13265T>A (p.Phe4422Tyr) c.12845T>A (p.Phe4282Tyr) c.12170T>A (p.Phe4057Tyr) c.8354T>A (p.Phe2785Tyr) c.7907T>A (p.Phe2636Tyr) c.7244T>A (p.Phe2415Tyr) c.11759T>A (p.Phe3920Tyr) | |
5 | g.13708305A>C | CA359198140 | DNAH5 | n.489T>G c.13156T>G (p.Phe4386Val) c.13111T>G (p.Phe4371Val) c.13264T>G (p.Phe4422Val) c.12844T>G (p.Phe4282Val) c.12169T>G (p.Phe4057Val) c.8353T>G (p.Phe2785Val) c.7906T>G (p.Phe2636Val) c.7243T>G (p.Phe2415Val) c.11758T>G (p.Phe3920Val) | |
5 | g.13708305A>G | CA359198143 | DNAH5 | n.489T>C c.13156T>C (p.Phe4386Leu) c.13111T>C (p.Phe4371Leu) c.13264T>C (p.Phe4422Leu) c.12844T>C (p.Phe4282Leu) c.12169T>C (p.Phe4057Leu) c.8353T>C (p.Phe2785Leu) c.7906T>C (p.Phe2636Leu) c.7243T>C (p.Phe2415Leu) c.11758T>C (p.Phe3920Leu) | |
5 | g.13708305A>T | CA359198139 | DNAH5 | n.489T>A c.13156T>A (p.Phe4386Ile) c.13111T>A (p.Phe4371Ile) c.13264T>A (p.Phe4422Ile) c.12844T>A (p.Phe4282Ile) c.12169T>A (p.Phe4057Ile) c.8353T>A (p.Phe2785Ile) c.7906T>A (p.Phe2636Ile) c.7243T>A (p.Phe2415Ile) c.11758T>A (p.Phe3920Ile) | |
5 | g.13708306T>A | CA3201433 | DNAH5 | n.488A>T c.13155A>T (p.Pro4385=) c.13110A>T (p.Pro4370=) c.13263A>T (p.Pro4421=) c.12843A>T (p.Pro4281=) c.12168A>T (p.Pro4056=) c.8352A>T (p.Pro2784=) c.7905A>T (p.Pro2635=) c.7242A>T (p.Pro2414=) c.11757A>T (p.Pro3919=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708306T>C | CA443251371 | DNAH5 | n.488A>G c.13155A>G (p.Pro4385=) c.13110A>G (p.Pro4370=) c.13263A>G (p.Pro4421=) c.12843A>G (p.Pro4281=) c.12168A>G (p.Pro4056=) c.8352A>G (p.Pro2784=) c.7905A>G (p.Pro2635=) c.7242A>G (p.Pro2414=) c.11757A>G (p.Pro3919=) | |
5 | g.13708306T>G | CA443251372 | DNAH5 | n.488A>C c.13155A>C (p.Pro4385=) c.13110A>C (p.Pro4370=) c.13263A>C (p.Pro4421=) c.12843A>C (p.Pro4281=) c.12168A>C (p.Pro4056=) c.8352A>C (p.Pro2784=) c.7905A>C (p.Pro2635=) c.7242A>C (p.Pro2414=) c.11757A>C (p.Pro3919=) | dbSNP |
5 | g.13708306T= | CA1528403803 | DNAH5 | n.488A= c.13155A= (p.Pro4385=) c.13110A= (p.Pro4370=) c.13263A= (p.Pro4421=) c.12843A= (p.Pro4281=) c.12168A= (p.Pro4056=) c.8352A= (p.Pro2784=) c.7905A= (p.Pro2635=) c.7242A= (p.Pro2414=) c.11757A= (p.Pro3919=) | |
5 | g.13708307G>A | CA359198146 | DNAH5 | n.487C>T c.13154C>T (p.Pro4385Leu) c.13109C>T (p.Pro4370Leu) c.13262C>T (p.Pro4421Leu) c.12842C>T (p.Pro4281Leu) c.12167C>T (p.Pro4056Leu) c.8351C>T (p.Pro2784Leu) c.7904C>T (p.Pro2635Leu) c.7241C>T (p.Pro2414Leu) c.11756C>T (p.Pro3919Leu) | dbSNP |
5 | g.13708307G>C | CA359198147 | DNAH5 | n.487C>G c.13154C>G (p.Pro4385Arg) c.13109C>G (p.Pro4370Arg) c.13262C>G (p.Pro4421Arg) c.12842C>G (p.Pro4281Arg) c.12167C>G (p.Pro4056Arg) c.8351C>G (p.Pro2784Arg) c.7904C>G (p.Pro2635Arg) c.7241C>G (p.Pro2414Arg) c.11756C>G (p.Pro3919Arg) | |
5 | g.13708307G= | CA1528403804 | DNAH5 | n.487C= c.13154C= (p.Pro4385=) c.13109C= (p.Pro4370=) c.13262C= (p.Pro4421=) c.12842C= (p.Pro4281=) c.12167C= (p.Pro4056=) c.8351C= (p.Pro2784=) c.7904C= (p.Pro2635=) c.7241C= (p.Pro2414=) c.11756C= (p.Pro3919=) | |
5 | g.13708307G>T | CA359198150 | DNAH5 | n.487C>A c.13154C>A (p.Pro4385Gln) c.13109C>A (p.Pro4370Gln) c.13262C>A (p.Pro4421Gln) c.12842C>A (p.Pro4281Gln) c.12167C>A (p.Pro4056Gln) c.8351C>A (p.Pro2784Gln) c.7904C>A (p.Pro2635Gln) c.7241C>A (p.Pro2414Gln) c.11756C>A (p.Pro3919Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708308G>A | CA359198160 | DNAH5 | n.486C>T c.13153C>T (p.Pro4385Ser) c.13108C>T (p.Pro4370Ser) c.13261C>T (p.Pro4421Ser) c.12841C>T (p.Pro4281Ser) c.12166C>T (p.Pro4056Ser) c.8350C>T (p.Pro2784Ser) c.7903C>T (p.Pro2635Ser) c.7240C>T (p.Pro2414Ser) c.11755C>T (p.Pro3919Ser) | |
5 | g.13708308G>C | CA359198159 | DNAH5 | n.486C>G c.13153C>G (p.Pro4385Ala) c.13108C>G (p.Pro4370Ala) c.13261C>G (p.Pro4421Ala) c.12841C>G (p.Pro4281Ala) c.12166C>G (p.Pro4056Ala) c.8350C>G (p.Pro2784Ala) c.7903C>G (p.Pro2635Ala) c.7240C>G (p.Pro2414Ala) c.11755C>G (p.Pro3919Ala) | dbSNP |
5 | g.13708308G= | CA1528403805 | DNAH5 | n.486C= c.13153C= (p.Pro4385=) c.13108C= (p.Pro4370=) c.13261C= (p.Pro4421=) c.12841C= (p.Pro4281=) c.12166C= (p.Pro4056=) c.8350C= (p.Pro2784=) c.7903C= (p.Pro2635=) c.7240C= (p.Pro2414=) c.11755C= (p.Pro3919=) | |
5 | g.13708308G>T | CA359198158 | DNAH5 | n.486C>A c.13153C>A (p.Pro4385Thr) c.13108C>A (p.Pro4370Thr) c.13261C>A (p.Pro4421Thr) c.12841C>A (p.Pro4281Thr) c.12166C>A (p.Pro4056Thr) c.8350C>A (p.Pro2784Thr) c.7903C>A (p.Pro2635Thr) c.7240C>A (p.Pro2414Thr) c.11755C>A (p.Pro3919Thr) | gnomAD v4 |
5 | g.13708309C>A | CA443251374 | DNAH5 | n.485G>T c.13152G>T (p.Gly4384=) c.13107G>T (p.Gly4369=) c.13260G>T (p.Gly4420=) c.12840G>T (p.Gly4280=) c.12165G>T (p.Gly4055=) c.8349G>T (p.Gly2783=) c.7902G>T (p.Gly2634=) c.7239G>T (p.Gly2413=) c.11754G>T (p.Gly3918=) | ClinVar gnomAD v4 |
5 | g.13708309C>G | CA443251375 | DNAH5 | n.485G>C c.13152G>C (p.Gly4384=) c.13107G>C (p.Gly4369=) c.13260G>C (p.Gly4420=) c.12840G>C (p.Gly4280=) c.12165G>C (p.Gly4055=) c.8349G>C (p.Gly2783=) c.7902G>C (p.Gly2634=) c.7239G>C (p.Gly2413=) c.11754G>C (p.Gly3918=) | |
5 | g.13708309C>T | CA443251376 | DNAH5 | n.485G>A c.13152G>A (p.Gly4384=) c.13107G>A (p.Gly4369=) c.13260G>A (p.Gly4420=) c.12840G>A (p.Gly4280=) c.12165G>A (p.Gly4055=) c.8349G>A (p.Gly2783=) c.7902G>A (p.Gly2634=) c.7239G>A (p.Gly2413=) c.11754G>A (p.Gly3918=) | ClinVar dbSNP |
5 | g.13708310C>A | CA359198186 | DNAH5 | n.484G>T c.13151G>T (p.Gly4384Val) c.13106G>T (p.Gly4369Val) c.13259G>T (p.Gly4420Val) c.12839G>T (p.Gly4280Val) c.12164G>T (p.Gly4055Val) c.8348G>T (p.Gly2783Val) c.7901G>T (p.Gly2634Val) c.7238G>T (p.Gly2413Val) c.11753G>T (p.Gly3918Val) | |
5 | g.13708310C>G | CA359198189 | DNAH5 | n.484G>C c.13151G>C (p.Gly4384Ala) c.13106G>C (p.Gly4369Ala) c.13259G>C (p.Gly4420Ala) c.12839G>C (p.Gly4280Ala) c.12164G>C (p.Gly4055Ala) c.8348G>C (p.Gly2783Ala) c.7901G>C (p.Gly2634Ala) c.7238G>C (p.Gly2413Ala) c.11753G>C (p.Gly3918Ala) | |
5 | g.13708310C>T | CA359198191 | DNAH5 | n.484G>A c.13151G>A (p.Gly4384Glu) c.13106G>A (p.Gly4369Glu) c.13259G>A (p.Gly4420Glu) c.12839G>A (p.Gly4280Glu) c.12164G>A (p.Gly4055Glu) c.8348G>A (p.Gly2783Glu) c.7901G>A (p.Gly2634Glu) c.7238G>A (p.Gly2413Glu) c.11753G>A (p.Gly3918Glu) | |
5 | g.13708311C>A | CA359198192 | DNAH5 | n.483G>T c.13150G>T (p.Gly4384Trp) c.13105G>T (p.Gly4369Trp) c.13258G>T (p.Gly4420Trp) c.12838G>T (p.Gly4280Trp) c.12163G>T (p.Gly4055Trp) c.8347G>T (p.Gly2783Trp) c.7900G>T (p.Gly2634Trp) c.7237G>T (p.Gly2413Trp) c.11752G>T (p.Gly3918Trp) | |
5 | g.13708311C>G | CA359198196 | DNAH5 | n.483G>C c.13150G>C (p.Gly4384Arg) c.13105G>C (p.Gly4369Arg) c.13258G>C (p.Gly4420Arg) c.12838G>C (p.Gly4280Arg) c.12163G>C (p.Gly4055Arg) c.8347G>C (p.Gly2783Arg) c.7900G>C (p.Gly2634Arg) c.7237G>C (p.Gly2413Arg) c.11752G>C (p.Gly3918Arg) | |
5 | g.13708311C>T | CA359198211 | DNAH5 | n.483G>A c.13150G>A (p.Gly4384Arg) c.13105G>A (p.Gly4369Arg) c.13258G>A (p.Gly4420Arg) c.12838G>A (p.Gly4280Arg) c.12163G>A (p.Gly4055Arg) c.8347G>A (p.Gly2783Arg) c.7900G>A (p.Gly2634Arg) c.7237G>A (p.Gly2413Arg) c.11752G>A (p.Gly3918Arg) | |
5 | g.13708312C>A | CA359198223 | DNAH5 | n.482G>T c.13149G>T (p.Met4383Ile) c.13104G>T (p.Met4368Ile) c.13257G>T (p.Met4419Ile) c.12837G>T (p.Met4279Ile) c.12162G>T (p.Met4054Ile) c.8346G>T (p.Met2782Ile) c.7899G>T (p.Met2633Ile) c.7236G>T (p.Met2412Ile) c.11751G>T (p.Met3917Ile) | |
5 | g.13708312C>G | CA359198220 | DNAH5 | n.482G>C c.13149G>C (p.Met4383Ile) c.13104G>C (p.Met4368Ile) c.13257G>C (p.Met4419Ile) c.12837G>C (p.Met4279Ile) c.12162G>C (p.Met4054Ile) c.8346G>C (p.Met2782Ile) c.7899G>C (p.Met2633Ile) c.7236G>C (p.Met2412Ile) c.11751G>C (p.Met3917Ile) | |
5 | g.13708312C>T | CA359198216 | DNAH5 | n.482G>A c.13149G>A (p.Met4383Ile) c.13104G>A (p.Met4368Ile) c.13257G>A (p.Met4419Ile) c.12837G>A (p.Met4279Ile) c.12162G>A (p.Met4054Ile) c.8346G>A (p.Met2782Ile) c.7899G>A (p.Met2633Ile) c.7236G>A (p.Met2412Ile) c.11751G>A (p.Met3917Ile) | |
5 | g.13708313A>C | CA359198232 | DNAH5 | n.481T>G c.13148T>G (p.Met4383Arg) c.13103T>G (p.Met4368Arg) c.13256T>G (p.Met4419Arg) c.12836T>G (p.Met4279Arg) c.12161T>G (p.Met4054Arg) c.8345T>G (p.Met2782Arg) c.7898T>G (p.Met2633Arg) c.7235T>G (p.Met2412Arg) c.11750T>G (p.Met3917Arg) | |
5 | g.13708313A>G | CA359198237 | DNAH5 | n.481T>C c.13148T>C (p.Met4383Thr) c.13103T>C (p.Met4368Thr) c.13256T>C (p.Met4419Thr) c.12836T>C (p.Met4279Thr) c.12161T>C (p.Met4054Thr) c.8345T>C (p.Met2782Thr) c.7898T>C (p.Met2633Thr) c.7235T>C (p.Met2412Thr) c.11750T>C (p.Met3917Thr) | |
5 | g.13708313A>T | CA359198233 | DNAH5 | n.481T>A c.13148T>A (p.Met4383Lys) c.13103T>A (p.Met4368Lys) c.13256T>A (p.Met4419Lys) c.12836T>A (p.Met4279Lys) c.12161T>A (p.Met4054Lys) c.8345T>A (p.Met2782Lys) c.7898T>A (p.Met2633Lys) c.7235T>A (p.Met2412Lys) c.11750T>A (p.Met3917Lys) | |
5 | g.13708314T>A | CA359198242 | DNAH5 | n.480A>T c.13147A>T (p.Met4383Leu) c.13102A>T (p.Met4368Leu) c.13255A>T (p.Met4419Leu) c.12835A>T (p.Met4279Leu) c.12160A>T (p.Met4054Leu) c.8344A>T (p.Met2782Leu) c.7897A>T (p.Met2633Leu) c.7234A>T (p.Met2412Leu) c.11749A>T (p.Met3917Leu) | |
5 | g.13708314T>C | CA359198257 | DNAH5 | n.480A>G c.13147A>G (p.Met4383Val) c.13102A>G (p.Met4368Val) c.13255A>G (p.Met4419Val) c.12835A>G (p.Met4279Val) c.12160A>G (p.Met4054Val) c.8344A>G (p.Met2782Val) c.7897A>G (p.Met2633Val) c.7234A>G (p.Met2412Val) c.11749A>G (p.Met3917Val) | |
5 | g.13708314T>G | CA359198252 | DNAH5 | n.480A>C c.13147A>C (p.Met4383Leu) c.13102A>C (p.Met4368Leu) c.13255A>C (p.Met4419Leu) c.12835A>C (p.Met4279Leu) c.12160A>C (p.Met4054Leu) c.8344A>C (p.Met2782Leu) c.7897A>C (p.Met2633Leu) c.7234A>C (p.Met2412Leu) c.11749A>C (p.Met3917Leu) | |
5 | g.13708315C>A | CA359198260 | DNAH5 | n.479G>T c.13146G>T (p.Lys4382Asn) c.13101G>T (p.Lys4367Asn) c.13254G>T (p.Lys4418Asn) c.12834G>T (p.Lys4278Asn) c.12159G>T (p.Lys4053Asn) c.8343G>T (p.Lys2781Asn) c.7896G>T (p.Lys2632Asn) c.7233G>T (p.Lys2411Asn) c.11748G>T (p.Lys3916Asn) | |
5 | g.13708315C= | CA1528403806 | DNAH5 | n.479G= c.13146G= (p.Lys4382=) c.13101G= (p.Lys4367=) c.13254G= (p.Lys4418=) c.12834G= (p.Lys4278=) c.12159G= (p.Lys4053=) c.8343G= (p.Lys2781=) c.7896G= (p.Lys2632=) c.7233G= (p.Lys2411=) c.11748G= (p.Lys3916=) | |
5 | g.13708315C>G | CA113911108 | DNAH5 | n.479G>C c.13146G>C (p.Lys4382Asn) c.13101G>C (p.Lys4367Asn) c.13254G>C (p.Lys4418Asn) c.12834G>C (p.Lys4278Asn) c.12159G>C (p.Lys4053Asn) c.8343G>C (p.Lys2781Asn) c.7896G>C (p.Lys2632Asn) c.7233G>C (p.Lys2411Asn) c.11748G>C (p.Lys3916Asn) | dbSNP gnomAD v4 |
5 | g.13708315C>T | CA443251378 | DNAH5 | n.479G>A c.13146G>A (p.Lys4382=) c.13101G>A (p.Lys4367=) c.13254G>A (p.Lys4418=) c.12834G>A (p.Lys4278=) c.12159G>A (p.Lys4053=) c.8343G>A (p.Lys2781=) c.7896G>A (p.Lys2632=) c.7233G>A (p.Lys2411=) c.11748G>A (p.Lys3916=) | |
5 | g.13708316T>A | CA359198265 | DNAH5 | n.478A>T c.13145A>T (p.Lys4382Met) c.13100A>T (p.Lys4367Met) c.13253A>T (p.Lys4418Met) c.12833A>T (p.Lys4278Met) c.12158A>T (p.Lys4053Met) c.8342A>T (p.Lys2781Met) c.7895A>T (p.Lys2632Met) c.7232A>T (p.Lys2411Met) c.11747A>T (p.Lys3916Met) | |
5 | g.13708316T>C | CA359198268 | DNAH5 | n.478A>G c.13145A>G (p.Lys4382Arg) c.13100A>G (p.Lys4367Arg) c.13253A>G (p.Lys4418Arg) c.12833A>G (p.Lys4278Arg) c.12158A>G (p.Lys4053Arg) c.8342A>G (p.Lys2781Arg) c.7895A>G (p.Lys2632Arg) c.7232A>G (p.Lys2411Arg) c.11747A>G (p.Lys3916Arg) | |
5 | g.13708316T>G | CA359198272 | DNAH5 | n.478A>C c.13145A>C (p.Lys4382Thr) c.13100A>C (p.Lys4367Thr) c.13253A>C (p.Lys4418Thr) c.12833A>C (p.Lys4278Thr) c.12158A>C (p.Lys4053Thr) c.8342A>C (p.Lys2781Thr) c.7895A>C (p.Lys2632Thr) c.7232A>C (p.Lys2411Thr) c.11747A>C (p.Lys3916Thr) | |
5 | g.13708317T>A | CA359198276 | DNAH5 | n.477A>T c.13144A>T (p.Lys4382Ter) c.13099A>T (p.Lys4367Ter) c.13252A>T (p.Lys4418Ter) c.12832A>T (p.Lys4278Ter) c.12157A>T (p.Lys4053Ter) c.8341A>T (p.Lys2781Ter) c.7894A>T (p.Lys2632Ter) c.7231A>T (p.Lys2411Ter) c.11746A>T (p.Lys3916Ter) | |
5 | g.13708317T>C | CA359198293 | DNAH5 | n.477A>G c.13144A>G (p.Lys4382Glu) c.13099A>G (p.Lys4367Glu) c.13252A>G (p.Lys4418Glu) c.12832A>G (p.Lys4278Glu) c.12157A>G (p.Lys4053Glu) c.8341A>G (p.Lys2781Glu) c.7894A>G (p.Lys2632Glu) c.7231A>G (p.Lys2411Glu) c.11746A>G (p.Lys3916Glu) | |
5 | g.13708317T>G | CA359198294 | DNAH5 | n.477A>C c.13144A>C (p.Lys4382Gln) c.13099A>C (p.Lys4367Gln) c.13252A>C (p.Lys4418Gln) c.12832A>C (p.Lys4278Gln) c.12157A>C (p.Lys4053Gln) c.8341A>C (p.Lys2781Gln) c.7894A>C (p.Lys2632Gln) c.7231A>C (p.Lys2411Gln) c.11746A>C (p.Lys3916Gln) | |
5 | g.13708318C>A | CA359198297 | DNAH5 | n.476G>T c.13143G>T (p.Gln4381His) c.13098G>T (p.Gln4366His) c.13251G>T (p.Gln4417His) c.12831G>T (p.Gln4277His) c.12156G>T (p.Gln4052His) c.8340G>T (p.Gln2780His) c.7893G>T (p.Gln2631His) c.7230G>T (p.Gln2410His) c.11745G>T (p.Gln3915His) | gnomAD v4 |
5 | g.13708318C>G | CA359198298 | DNAH5 | n.476G>C c.13143G>C (p.Gln4381His) c.13098G>C (p.Gln4366His) c.13251G>C (p.Gln4417His) c.12831G>C (p.Gln4277His) c.12156G>C (p.Gln4052His) c.8340G>C (p.Gln2780His) c.7893G>C (p.Gln2631His) c.7230G>C (p.Gln2410His) c.11745G>C (p.Gln3915His) | |
5 | g.13708318C>T | CA443251380 | DNAH5 | n.476G>A c.13143G>A (p.Gln4381=) c.13098G>A (p.Gln4366=) c.13251G>A (p.Gln4417=) c.12831G>A (p.Gln4277=) c.12156G>A (p.Gln4052=) c.8340G>A (p.Gln2780=) c.7893G>A (p.Gln2631=) c.7230G>A (p.Gln2410=) c.11745G>A (p.Gln3915=) | gnomAD v4 |
5 | g.13708319T>A | CA359198299 | DNAH5 | n.475A>T c.13142A>T (p.Gln4381Leu) c.13097A>T (p.Gln4366Leu) c.13250A>T (p.Gln4417Leu) c.12830A>T (p.Gln4277Leu) c.12155A>T (p.Gln4052Leu) c.8339A>T (p.Gln2780Leu) c.7892A>T (p.Gln2631Leu) c.7229A>T (p.Gln2410Leu) c.11744A>T (p.Gln3915Leu) | |
5 | g.13708319T>C | CA359198300 | DNAH5 | n.475A>G c.13142A>G (p.Gln4381Arg) c.13097A>G (p.Gln4366Arg) c.13250A>G (p.Gln4417Arg) c.12830A>G (p.Gln4277Arg) c.12155A>G (p.Gln4052Arg) c.8339A>G (p.Gln2780Arg) c.7892A>G (p.Gln2631Arg) c.7229A>G (p.Gln2410Arg) c.11744A>G (p.Gln3915Arg) | |
5 | g.13708319T>G | CA359198304 | DNAH5 | n.475A>C c.13142A>C (p.Gln4381Pro) c.13097A>C (p.Gln4366Pro) c.13250A>C (p.Gln4417Pro) c.12830A>C (p.Gln4277Pro) c.12155A>C (p.Gln4052Pro) c.8339A>C (p.Gln2780Pro) c.7892A>C (p.Gln2631Pro) c.7229A>C (p.Gln2410Pro) c.11744A>C (p.Gln3915Pro) | |
5 | g.13708320G>A | CA359198306 | DNAH5 | n.474C>T c.13141C>T (p.Gln4381Ter) c.13096C>T (p.Gln4366Ter) c.13249C>T (p.Gln4417Ter) c.12829C>T (p.Gln4277Ter) c.12154C>T (p.Gln4052Ter) c.8338C>T (p.Gln2780Ter) c.7891C>T (p.Gln2631Ter) c.7228C>T (p.Gln2410Ter) c.11743C>T (p.Gln3915Ter) | gnomAD v4 COSMIC |
5 | g.13708320G>C | CA3201434 | DNAH5 | n.474C>G c.13141C>G (p.Gln4381Glu) c.13096C>G (p.Gln4366Glu) c.13249C>G (p.Gln4417Glu) c.12829C>G (p.Gln4277Glu) c.12154C>G (p.Gln4052Glu) c.8338C>G (p.Gln2780Glu) c.7891C>G (p.Gln2631Glu) c.7228C>G (p.Gln2410Glu) c.11743C>G (p.Gln3915Glu) | dbSNP ExAC gnomAD v2 |
5 | g.13708320G= | CA1528403807 | DNAH5 | n.474C= c.13141C= (p.Gln4381=) c.13096C= (p.Gln4366=) c.13249C= (p.Gln4417=) c.12829C= (p.Gln4277=) c.12154C= (p.Gln4052=) c.8338C= (p.Gln2780=) c.7891C= (p.Gln2631=) c.7228C= (p.Gln2410=) c.11743C= (p.Gln3915=) | |
5 | g.13708320G>T | CA359198309 | DNAH5 | n.474C>A c.13141C>A (p.Gln4381Lys) c.13096C>A (p.Gln4366Lys) c.13249C>A (p.Gln4417Lys) c.12829C>A (p.Gln4277Lys) c.12154C>A (p.Gln4052Lys) c.8338C>A (p.Gln2780Lys) c.7891C>A (p.Gln2631Lys) c.7228C>A (p.Gln2410Lys) c.11743C>A (p.Gln3915Lys) | |
5 | g.13708321C>A | CA113911116 | DNAH5 | n.473G>T c.13140G>T (p.Leu4380=) c.13095G>T (p.Leu4365=) c.13248G>T (p.Leu4416=) c.12828G>T (p.Leu4276=) c.12153G>T (p.Leu4051=) c.8337G>T (p.Leu2779=) c.7890G>T (p.Leu2630=) c.7227G>T (p.Leu2409=) c.11742G>T (p.Leu3914=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708321C= | CA1528403808 | DNAH5 | n.473G= c.13140G= (p.Leu4380=) c.13095G= (p.Leu4365=) c.13248G= (p.Leu4416=) c.12828G= (p.Leu4276=) c.12153G= (p.Leu4051=) c.8337G= (p.Leu2779=) c.7890G= (p.Leu2630=) c.7227G= (p.Leu2409=) c.11742G= (p.Leu3914=) | |
5 | g.13708321C>G | CA443251382 | DNAH5 | n.473G>C c.13140G>C (p.Leu4380=) c.13095G>C (p.Leu4365=) c.13248G>C (p.Leu4416=) c.12828G>C (p.Leu4276=) c.12153G>C (p.Leu4051=) c.8337G>C (p.Leu2779=) c.7890G>C (p.Leu2630=) c.7227G>C (p.Leu2409=) c.11742G>C (p.Leu3914=) | |
5 | g.13708321C>T | CA443251383 | DNAH5 | n.473G>A c.13140G>A (p.Leu4380=) c.13095G>A (p.Leu4365=) c.13248G>A (p.Leu4416=) c.12828G>A (p.Leu4276=) c.12153G>A (p.Leu4051=) c.8337G>A (p.Leu2779=) c.7890G>A (p.Leu2630=) c.7227G>A (p.Leu2409=) c.11742G>A (p.Leu3914=) | |
5 | g.13708322A= | CA1528403809 | DNAH5 | n.472T= c.13139T= (p.Leu4380=) c.13094T= (p.Leu4365=) c.13247T= (p.Leu4416=) c.12827T= (p.Leu4276=) c.12152T= (p.Leu4051=) c.8336T= (p.Leu2779=) c.7889T= (p.Leu2630=) c.7226T= (p.Leu2409=) c.11741T= (p.Leu3914=) | |
5 | g.13708322A>C | CA359198318 | DNAH5 | n.472T>G c.13139T>G (p.Leu4380Arg) c.13094T>G (p.Leu4365Arg) c.13247T>G (p.Leu4416Arg) c.12827T>G (p.Leu4276Arg) c.12152T>G (p.Leu4051Arg) c.8336T>G (p.Leu2779Arg) c.7889T>G (p.Leu2630Arg) c.7226T>G (p.Leu2409Arg) c.11741T>G (p.Leu3914Arg) | |
5 | g.13708322A>G | CA359198319 | DNAH5 | n.472T>C c.13139T>C (p.Leu4380Pro) c.13094T>C (p.Leu4365Pro) c.13247T>C (p.Leu4416Pro) c.12827T>C (p.Leu4276Pro) c.12152T>C (p.Leu4051Pro) c.8336T>C (p.Leu2779Pro) c.7889T>C (p.Leu2630Pro) c.7226T>C (p.Leu2409Pro) c.11741T>C (p.Leu3914Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708322A>T | CA359198320 | DNAH5 | n.472T>A c.13139T>A (p.Leu4380Gln) c.13094T>A (p.Leu4365Gln) c.13247T>A (p.Leu4416Gln) c.12827T>A (p.Leu4276Gln) c.12152T>A (p.Leu4051Gln) c.8336T>A (p.Leu2779Gln) c.7889T>A (p.Leu2630Gln) c.7226T>A (p.Leu2409Gln) c.11741T>A (p.Leu3914Gln) | gnomAD v4 |
5 | g.13708323G>A | CA443251386 | DNAH5 | n.471C>T c.13138C>T (p.Leu4380=) c.13093C>T (p.Leu4365=) c.13246C>T (p.Leu4416=) c.12826C>T (p.Leu4276=) c.12151C>T (p.Leu4051=) c.8335C>T (p.Leu2779=) c.7888C>T (p.Leu2630=) c.7225C>T (p.Leu2409=) c.11740C>T (p.Leu3914=) | |
5 | g.13708323G>C | CA359198322 | DNAH5 | n.471C>G c.13138C>G (p.Leu4380Val) c.13093C>G (p.Leu4365Val) c.13246C>G (p.Leu4416Val) c.12826C>G (p.Leu4276Val) c.12151C>G (p.Leu4051Val) c.8335C>G (p.Leu2779Val) c.7888C>G (p.Leu2630Val) c.7225C>G (p.Leu2409Val) c.11740C>G (p.Leu3914Val) | dbSNP gnomAD v4 |
5 | g.13708323G= | CA1528403810 | DNAH5 | n.471C= c.13138C= (p.Leu4380=) c.13093C= (p.Leu4365=) c.13246C= (p.Leu4416=) c.12826C= (p.Leu4276=) c.12151C= (p.Leu4051=) c.8335C= (p.Leu2779=) c.7888C= (p.Leu2630=) c.7225C= (p.Leu2409=) c.11740C= (p.Leu3914=) | |
5 | g.13708323G>T | CA359198324 | DNAH5 | n.471C>A c.13138C>A (p.Leu4380Met) c.13093C>A (p.Leu4365Met) c.13246C>A (p.Leu4416Met) c.12826C>A (p.Leu4276Met) c.12151C>A (p.Leu4051Met) c.8335C>A (p.Leu2779Met) c.7888C>A (p.Leu2630Met) c.7225C>A (p.Leu2409Met) c.11740C>A (p.Leu3914Met) | |
5 | g.13708324C>A | CA359198326 | DNAH5 | n.470G>T c.13137G>T (p.Arg4379Ser) c.13092G>T (p.Arg4364Ser) c.13245G>T (p.Arg4415Ser) c.12825G>T (p.Arg4275Ser) c.12150G>T (p.Arg4050Ser) c.8334G>T (p.Arg2778Ser) c.7887G>T (p.Arg2629Ser) c.7224G>T (p.Arg2408Ser) c.11739G>T (p.Arg3913Ser) | |
5 | g.13708324C>G | CA359198344 | DNAH5 | n.470G>C c.13137G>C (p.Arg4379Ser) c.13092G>C (p.Arg4364Ser) c.13245G>C (p.Arg4415Ser) c.12825G>C (p.Arg4275Ser) c.12150G>C (p.Arg4050Ser) c.8334G>C (p.Arg2778Ser) c.7887G>C (p.Arg2629Ser) c.7224G>C (p.Arg2408Ser) c.11739G>C (p.Arg3913Ser) | gnomAD v4 |
5 | g.13708324C>T | CA443251387 | DNAH5 | n.470G>A c.13137G>A (p.Arg4379=) c.13092G>A (p.Arg4364=) c.13245G>A (p.Arg4415=) c.12825G>A (p.Arg4275=) c.12150G>A (p.Arg4050=) c.8334G>A (p.Arg2778=) c.7887G>A (p.Arg2629=) c.7224G>A (p.Arg2408=) c.11739G>A (p.Arg3913=) | |
5 | g.13708325C>A | CA359198349 | DNAH5 | n.469G>T c.13136G>T (p.Arg4379Met) c.13091G>T (p.Arg4364Met) c.13244G>T (p.Arg4415Met) c.12824G>T (p.Arg4275Met) c.12149G>T (p.Arg4050Met) c.8333G>T (p.Arg2778Met) c.7886G>T (p.Arg2629Met) c.7223G>T (p.Arg2408Met) c.11738G>T (p.Arg3913Met) | |
5 | g.13708325C= | CA1528403811 | DNAH5 | n.469G= c.13136G= (p.Arg4379=) c.13091G= (p.Arg4364=) c.13244G= (p.Arg4415=) c.12824G= (p.Arg4275=) c.12149G= (p.Arg4050=) c.8333G= (p.Arg2778=) c.7886G= (p.Arg2629=) c.7223G= (p.Arg2408=) c.11738G= (p.Arg3913=) | |
5 | g.13708325C>G | CA359198351 | DNAH5 | n.469G>C c.13136G>C (p.Arg4379Thr) c.13091G>C (p.Arg4364Thr) c.13244G>C (p.Arg4415Thr) c.12824G>C (p.Arg4275Thr) c.12149G>C (p.Arg4050Thr) c.8333G>C (p.Arg2778Thr) c.7886G>C (p.Arg2629Thr) c.7223G>C (p.Arg2408Thr) c.11738G>C (p.Arg3913Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708325C>T | CA359198353 | DNAH5 | n.469G>A c.13136G>A (p.Arg4379Lys) c.13091G>A (p.Arg4364Lys) c.13244G>A (p.Arg4415Lys) c.12824G>A (p.Arg4275Lys) c.12149G>A (p.Arg4050Lys) c.8333G>A (p.Arg2778Lys) c.7886G>A (p.Arg2629Lys) c.7223G>A (p.Arg2408Lys) c.11738G>A (p.Arg3913Lys) | dbSNP gnomAD v4 |
5 | g.13708326T>A | CA359198356 | DNAH5 | n.468A>T c.13135A>T (p.Arg4379Trp) c.13090A>T (p.Arg4364Trp) c.13243A>T (p.Arg4415Trp) c.12823A>T (p.Arg4275Trp) c.12148A>T (p.Arg4050Trp) c.8332A>T (p.Arg2778Trp) c.7885A>T (p.Arg2629Trp) c.7222A>T (p.Arg2408Trp) c.11737A>T (p.Arg3913Trp) | |
5 | g.13708326T>C | CA359198359 | DNAH5 | n.468A>G c.13135A>G (p.Arg4379Gly) c.13090A>G (p.Arg4364Gly) c.13243A>G (p.Arg4415Gly) c.12823A>G (p.Arg4275Gly) c.12148A>G (p.Arg4050Gly) c.8332A>G (p.Arg2778Gly) c.7885A>G (p.Arg2629Gly) c.7222A>G (p.Arg2408Gly) c.11737A>G (p.Arg3913Gly) | |
5 | g.13708326T>G | CA443251391 | DNAH5 | n.468A>C c.13135A>C (p.Arg4379=) c.13090A>C (p.Arg4364=) c.13243A>C (p.Arg4415=) c.12823A>C (p.Arg4275=) c.12148A>C (p.Arg4050=) c.8332A>C (p.Arg2778=) c.7885A>C (p.Arg2629=) c.7222A>C (p.Arg2408=) c.11737A>C (p.Arg3913=) | |
5 | g.13708327C>A | CA359198365 | DNAH5 | n.467G>T c.13134G>T (p.Glu4378Asp) c.13089G>T (p.Glu4363Asp) c.13242G>T (p.Glu4414Asp) c.12822G>T (p.Glu4274Asp) c.12147G>T (p.Glu4049Asp) c.8331G>T (p.Glu2777Asp) c.7884G>T (p.Glu2628Asp) c.7221G>T (p.Glu2407Asp) c.11736G>T (p.Glu3912Asp) | |
5 | g.13708327C>G | CA359198367 | DNAH5 | n.467G>C c.13134G>C (p.Glu4378Asp) c.13089G>C (p.Glu4363Asp) c.13242G>C (p.Glu4414Asp) c.12822G>C (p.Glu4274Asp) c.12147G>C (p.Glu4049Asp) c.8331G>C (p.Glu2777Asp) c.7884G>C (p.Glu2628Asp) c.7221G>C (p.Glu2407Asp) c.11736G>C (p.Glu3912Asp) | |
5 | g.13708327C>T | CA443251393 | DNAH5 | n.467G>A c.13134G>A (p.Glu4378=) c.13089G>A (p.Glu4363=) c.13242G>A (p.Glu4414=) c.12822G>A (p.Glu4274=) c.12147G>A (p.Glu4049=) c.8331G>A (p.Glu2777=) c.7884G>A (p.Glu2628=) c.7221G>A (p.Glu2407=) c.11736G>A (p.Glu3912=) | ClinVar dbSNP |
5 | g.13708328T>A | CA359198372 | DNAH5 | n.466A>T c.13133A>T (p.Glu4378Val) c.13088A>T (p.Glu4363Val) c.13241A>T (p.Glu4414Val) c.12821A>T (p.Glu4274Val) c.12146A>T (p.Glu4049Val) c.8330A>T (p.Glu2777Val) c.7883A>T (p.Glu2628Val) c.7220A>T (p.Glu2407Val) c.11735A>T (p.Glu3912Val) | COSMIC |
5 | g.13708328T>C | CA359198375 | DNAH5 | n.466A>G c.13133A>G (p.Glu4378Gly) c.13088A>G (p.Glu4363Gly) c.13241A>G (p.Glu4414Gly) c.12821A>G (p.Glu4274Gly) c.12146A>G (p.Glu4049Gly) c.8330A>G (p.Glu2777Gly) c.7883A>G (p.Glu2628Gly) c.7220A>G (p.Glu2407Gly) c.11735A>G (p.Glu3912Gly) | |
5 | g.13708328T>G | CA3201435 | DNAH5 | n.466A>C c.13133A>C (p.Glu4378Ala) c.13088A>C (p.Glu4363Ala) c.13241A>C (p.Glu4414Ala) c.12821A>C (p.Glu4274Ala) c.12146A>C (p.Glu4049Ala) c.8330A>C (p.Glu2777Ala) c.7883A>C (p.Glu2628Ala) c.7220A>C (p.Glu2407Ala) c.11735A>C (p.Glu3912Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13708328T= | CA1528403812 | DNAH5 | n.466A= c.13133A= (p.Glu4378=) c.13088A= (p.Glu4363=) c.13241A= (p.Glu4414=) c.12821A= (p.Glu4274=) c.12146A= (p.Glu4049=) c.8330A= (p.Glu2777=) c.7883A= (p.Glu2628=) c.7220A= (p.Glu2407=) c.11735A= (p.Glu3912=) | |
5 | g.13708329C>A | CA359198379 | DNAH5 | n.465G>T c.13132G>T (p.Glu4378Ter) c.13087G>T (p.Glu4363Ter) c.13240G>T (p.Glu4414Ter) c.12820G>T (p.Glu4274Ter) c.12145G>T (p.Glu4049Ter) c.8329G>T (p.Glu2777Ter) c.7882G>T (p.Glu2628Ter) c.7219G>T (p.Glu2407Ter) c.11734G>T (p.Glu3912Ter) | |
5 | g.13708329C>G | CA359198382 | DNAH5 | n.465G>C c.13132G>C (p.Glu4378Gln) c.13087G>C (p.Glu4363Gln) c.13240G>C (p.Glu4414Gln) c.12820G>C (p.Glu4274Gln) c.12145G>C (p.Glu4049Gln) c.8329G>C (p.Glu2777Gln) c.7882G>C (p.Glu2628Gln) c.7219G>C (p.Glu2407Gln) c.11734G>C (p.Glu3912Gln) | |
5 | g.13708329C>T | CA359198385 | DNAH5 | n.465G>A c.13132G>A (p.Glu4378Lys) c.13087G>A (p.Glu4363Lys) c.13240G>A (p.Glu4414Lys) c.12820G>A (p.Glu4274Lys) c.12145G>A (p.Glu4049Lys) c.8329G>A (p.Glu2777Lys) c.7882G>A (p.Glu2628Lys) c.7219G>A (p.Glu2407Lys) c.11734G>A (p.Glu3912Lys) | |
5 | g.13708330T>A | CA359198398 | DNAH5 | n.464A>T c.13131A>T (p.Lys4377Asn) c.13086A>T (p.Lys4362Asn) c.13239A>T (p.Lys4413Asn) c.12819A>T (p.Lys4273Asn) c.12144A>T (p.Lys4048Asn) c.8328A>T (p.Lys2776Asn) c.7881A>T (p.Lys2627Asn) c.7218A>T (p.Lys2406Asn) c.11733A>T (p.Lys3911Asn) | |
5 | g.13708330T>C | CA443251394 | DNAH5 | n.464A>G c.13131A>G (p.Lys4377=) c.13086A>G (p.Lys4362=) c.13239A>G (p.Lys4413=) c.12819A>G (p.Lys4273=) c.12144A>G (p.Lys4048=) c.8328A>G (p.Lys2776=) c.7881A>G (p.Lys2627=) c.7218A>G (p.Lys2406=) c.11733A>G (p.Lys3911=) | |
5 | g.13708330T>G | CA359198399 | DNAH5 | n.464A>C c.13131A>C (p.Lys4377Asn) c.13086A>C (p.Lys4362Asn) c.13239A>C (p.Lys4413Asn) c.12819A>C (p.Lys4273Asn) c.12144A>C (p.Lys4048Asn) c.8328A>C (p.Lys2776Asn) c.7881A>C (p.Lys2627Asn) c.7218A>C (p.Lys2406Asn) c.11733A>C (p.Lys3911Asn) | |
5 | g.13708331T>A | CA359198405 | DNAH5 | n.463A>T c.13130A>T (p.Lys4377Ile) c.13085A>T (p.Lys4362Ile) c.13238A>T (p.Lys4413Ile) c.12818A>T (p.Lys4273Ile) c.12143A>T (p.Lys4048Ile) c.8327A>T (p.Lys2776Ile) c.7880A>T (p.Lys2627Ile) c.7217A>T (p.Lys2406Ile) c.11732A>T (p.Lys3911Ile) | |
5 | g.13708331T>C | CA359198407 | DNAH5 | n.463A>G c.13130A>G (p.Lys4377Arg) c.13085A>G (p.Lys4362Arg) c.13238A>G (p.Lys4413Arg) c.12818A>G (p.Lys4273Arg) c.12143A>G (p.Lys4048Arg) c.8327A>G (p.Lys2776Arg) c.7880A>G (p.Lys2627Arg) c.7217A>G (p.Lys2406Arg) c.11732A>G (p.Lys3911Arg) | |
5 | g.13708331T>G | CA359198408 | DNAH5 | n.463A>C c.13130A>C (p.Lys4377Thr) c.13085A>C (p.Lys4362Thr) c.13238A>C (p.Lys4413Thr) c.12818A>C (p.Lys4273Thr) c.12143A>C (p.Lys4048Thr) c.8327A>C (p.Lys2776Thr) c.7880A>C (p.Lys2627Thr) c.7217A>C (p.Lys2406Thr) c.11732A>C (p.Lys3911Thr) | |
5 | g.13708332T>A | CA359198411 | DNAH5 | n.462A>T c.13129A>T (p.Lys4377Ter) c.13084A>T (p.Lys4362Ter) c.13237A>T (p.Lys4413Ter) c.12817A>T (p.Lys4273Ter) c.12142A>T (p.Lys4048Ter) c.8326A>T (p.Lys2776Ter) c.7879A>T (p.Lys2627Ter) c.7216A>T (p.Lys2406Ter) c.11731A>T (p.Lys3911Ter) | |
5 | g.13708332T>C | CA359198409 | DNAH5 | n.462A>G c.13129A>G (p.Lys4377Glu) c.13084A>G (p.Lys4362Glu) c.13237A>G (p.Lys4413Glu) c.12817A>G (p.Lys4273Glu) c.12142A>G (p.Lys4048Glu) c.8326A>G (p.Lys2776Glu) c.7879A>G (p.Lys2627Glu) c.7216A>G (p.Lys2406Glu) c.11731A>G (p.Lys3911Glu) | |
5 | g.13708332T>G | CA359198410 | DNAH5 | n.462A>C c.13129A>C (p.Lys4377Gln) c.13084A>C (p.Lys4362Gln) c.13237A>C (p.Lys4413Gln) c.12817A>C (p.Lys4273Gln) c.12142A>C (p.Lys4048Gln) c.8326A>C (p.Lys2776Gln) c.7879A>C (p.Lys2627Gln) c.7216A>C (p.Lys2406Gln) c.11731A>C (p.Lys3911Gln) | |
5 | g.13708333T>A | CA443251396 | DNAH5 | n.461A>T c.13128A>T (p.Val4376=) c.13083A>T (p.Val4361=) c.13236A>T (p.Val4412=) c.12816A>T (p.Val4272=) c.12141A>T (p.Val4047=) c.8325A>T (p.Val2775=) c.7878A>T (p.Val2626=) c.7215A>T (p.Val2405=) c.11730A>T (p.Val3910=) | |
5 | g.13708333T>C | CA443251397 | DNAH5 | n.461A>G c.13128A>G (p.Val4376=) c.13083A>G (p.Val4361=) c.13236A>G (p.Val4412=) c.12816A>G (p.Val4272=) c.12141A>G (p.Val4047=) c.8325A>G (p.Val2775=) c.7878A>G (p.Val2626=) c.7215A>G (p.Val2405=) c.11730A>G (p.Val3910=) | |
5 | g.13708333T>G | CA443251398 | DNAH5 | n.461A>C c.13128A>C (p.Val4376=) c.13083A>C (p.Val4361=) c.13236A>C (p.Val4412=) c.12816A>C (p.Val4272=) c.12141A>C (p.Val4047=) c.8325A>C (p.Val2775=) c.7878A>C (p.Val2626=) c.7215A>C (p.Val2405=) c.11730A>C (p.Val3910=) | |
5 | g.13708334A= | CA1528403813 | DNAH5 | n.460T= c.13127T= (p.Val4376=) c.13082T= (p.Val4361=) c.13235T= (p.Val4412=) c.12815T= (p.Val4272=) c.12140T= (p.Val4047=) c.8324T= (p.Val2775=) c.7877T= (p.Val2626=) c.7214T= (p.Val2405=) c.11729T= (p.Val3910=) | |
5 | g.13708334A>C | CA3201436 | DNAH5 | n.460T>G c.13127T>G (p.Val4376Gly) c.13082T>G (p.Val4361Gly) c.13235T>G (p.Val4412Gly) c.12815T>G (p.Val4272Gly) c.12140T>G (p.Val4047Gly) c.8324T>G (p.Val2775Gly) c.7877T>G (p.Val2626Gly) c.7214T>G (p.Val2405Gly) c.11729T>G (p.Val3910Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13708334A>G | CA359198416 | DNAH5 | n.460T>C c.13127T>C (p.Val4376Ala) c.13082T>C (p.Val4361Ala) c.13235T>C (p.Val4412Ala) c.12815T>C (p.Val4272Ala) c.12140T>C (p.Val4047Ala) c.8324T>C (p.Val2775Ala) c.7877T>C (p.Val2626Ala) c.7214T>C (p.Val2405Ala) c.11729T>C (p.Val3910Ala) | COSMIC |
5 | g.13708334A>T | CA359198417 | DNAH5 | n.460T>A c.13127T>A (p.Val4376Glu) c.13082T>A (p.Val4361Glu) c.13235T>A (p.Val4412Glu) c.12815T>A (p.Val4272Glu) c.12140T>A (p.Val4047Glu) c.8324T>A (p.Val2775Glu) c.7877T>A (p.Val2626Glu) c.7214T>A (p.Val2405Glu) c.11729T>A (p.Val3910Glu) | |
5 | g.13708335C>A | CA359198420 | DNAH5 | n.459G>T c.13126G>T (p.Val4376Leu) c.13081G>T (p.Val4361Leu) c.13234G>T (p.Val4412Leu) c.12814G>T (p.Val4272Leu) c.12139G>T (p.Val4047Leu) c.8323G>T (p.Val2775Leu) c.7876G>T (p.Val2626Leu) c.7213G>T (p.Val2405Leu) c.11728G>T (p.Val3910Leu) | |
5 | g.13708335C= | CA1528403814 | DNAH5 | n.459G= c.13126G= (p.Val4376=) c.13081G= (p.Val4361=) c.13234G= (p.Val4412=) c.12814G= (p.Val4272=) c.12139G= (p.Val4047=) c.8323G= (p.Val2775=) c.7876G= (p.Val2626=) c.7213G= (p.Val2405=) c.11728G= (p.Val3910=) | |
5 | g.13708335C>G | CA113911118 | DNAH5 | n.459G>C c.13126G>C (p.Val4376Leu) c.13081G>C (p.Val4361Leu) c.13234G>C (p.Val4412Leu) c.12814G>C (p.Val4272Leu) c.12139G>C (p.Val4047Leu) c.8323G>C (p.Val2775Leu) c.7876G>C (p.Val2626Leu) c.7213G>C (p.Val2405Leu) c.11728G>C (p.Val3910Leu) | dbSNP |
5 | g.13708335C>T | CA359198428 | DNAH5 | n.459G>A c.13126G>A (p.Val4376Ile) c.13081G>A (p.Val4361Ile) c.13234G>A (p.Val4412Ile) c.12814G>A (p.Val4272Ile) c.12139G>A (p.Val4047Ile) c.8323G>A (p.Val2775Ile) c.7876G>A (p.Val2626Ile) c.7213G>A (p.Val2405Ile) c.11728G>A (p.Val3910Ile) | |
5 | g.13708336C>A | CA359198433 | DNAH5 | n.459-1G>T c.13126-1G>T (n.13126-1G>T) c.13081-1G>T (n.13081-1G>T) c.13234-1G>T (n.13234-1G>T) c.12814-1G>T (n.12814-1G>T) c.12139-1G>T (n.12139-1G>T) c.8323-1G>T (n.8323-1G>T) c.7876-1G>T (n.7876-1G>T) c.7213-1G>T (n.7213-1G>T) c.11728-1G>T (n.11728-1G>T) | |
5 | g.13708336C>G | CA359198440 | DNAH5 | n.459-1G>C c.13126-1G>C (n.13126-1G>C) c.13081-1G>C (n.13081-1G>C) c.13234-1G>C (n.13234-1G>C) c.12814-1G>C (n.12814-1G>C) c.12139-1G>C (n.12139-1G>C) c.8323-1G>C (n.8323-1G>C) c.7876-1G>C (n.7876-1G>C) c.7213-1G>C (n.7213-1G>C) c.11728-1G>C (n.11728-1G>C) | gnomAD v4 |
5 | g.13708336C>T | CA359198443 | DNAH5 | n.459-1G>A c.13126-1G>A (n.13126-1G>A) c.13081-1G>A (n.13081-1G>A) c.13234-1G>A (n.13234-1G>A) c.12814-1G>A (n.12814-1G>A) c.12139-1G>A (n.12139-1G>A) c.8323-1G>A (n.8323-1G>A) c.7876-1G>A (n.7876-1G>A) c.7213-1G>A (n.7213-1G>A) c.11728-1G>A (n.11728-1G>A) | |
5 | g.13708337T>A | CA359198446 | DNAH5 | n.459-2A>T c.13126-2A>T (n.13126-2A>T) c.13081-2A>T (n.13081-2A>T) c.13234-2A>T (n.13234-2A>T) c.12814-2A>T (n.12814-2A>T) c.12139-2A>T (n.12139-2A>T) c.8323-2A>T (n.8323-2A>T) c.7876-2A>T (n.7876-2A>T) c.7213-2A>T (n.7213-2A>T) c.11728-2A>T (n.11728-2A>T) | |
5 | g.13708337T>C | CA359198447 | DNAH5 | n.459-2A>G c.13126-2A>G (n.13126-2A>G) c.13081-2A>G (n.13081-2A>G) c.13234-2A>G (n.13234-2A>G) c.12814-2A>G (n.12814-2A>G) c.12139-2A>G (n.12139-2A>G) c.8323-2A>G (n.8323-2A>G) c.7876-2A>G (n.7876-2A>G) c.7213-2A>G (n.7213-2A>G) c.11728-2A>G (n.11728-2A>G) | |
5 | g.13708337T>G | CA337114 | DNAH5 | n.459-2A>C c.13126-2A>C (n.13126-2A>C) c.13081-2A>C (n.13081-2A>C) c.13234-2A>C (n.13234-2A>C) c.12814-2A>C (n.12814-2A>C) c.12139-2A>C (n.12139-2A>C) c.8323-2A>C (n.8323-2A>C) c.7876-2A>C (n.7876-2A>C) c.7213-2A>C (n.7213-2A>C) c.11728-2A>C (n.11728-2A>C) | ClinVar dbSNP |
5 | g.13708337T= | CA1528403815 | DNAH5 | n.459-2A= c.13126-2A= (n.13126-2A=) c.13081-2A= (n.13081-2A=) c.13234-2A= (n.13234-2A=) c.12814-2A= (n.12814-2A=) c.12139-2A= (n.12139-2A=) c.8323-2A= (n.8323-2A=) c.7876-2A= (n.7876-2A=) c.7213-2A= (n.7213-2A=) c.11728-2A= (n.11728-2A=) | |
5 | g.13708338G>C | CA2673266642 | DNAH5 | n.459-3C>G c.13126-3C>G (n.13126-3C>G) c.13081-3C>G (n.13081-3C>G) c.13234-3C>G (n.13234-3C>G) c.12814-3C>G (n.12814-3C>G) c.12139-3C>G (n.12139-3C>G) c.8323-3C>G (n.8323-3C>G) c.7876-3C>G (n.7876-3C>G) c.7213-3C>G (n.7213-3C>G) c.11728-3C>G (n.11728-3C>G) | gnomAD v4 |
5 | g.13708340C>T | CA2673266643 | DNAH5 | n.459-5G>A c.13126-5G>A (n.13126-5G>A) c.13081-5G>A (n.13081-5G>A) c.13234-5G>A (n.13234-5G>A) c.12814-5G>A (n.12814-5G>A) c.12139-5G>A (n.12139-5G>A) c.8323-5G>A (n.8323-5G>A) c.7876-5G>A (n.7876-5G>A) c.7213-5G>A (n.7213-5G>A) c.11728-5G>A (n.11728-5G>A) | gnomAD v4 |
5 | g.13708341A= | CA1528403816 | DNAH5 | n.459-6T= c.13126-6T= (n.13126-6T=) c.13081-6T= (n.13081-6T=) c.13234-6T= (n.13234-6T=) c.12814-6T= (n.12814-6T=) c.12139-6T= (n.12139-6T=) c.8323-6T= (n.8323-6T=) c.7876-6T= (n.7876-6T=) c.7213-6T= (n.7213-6T=) c.11728-6T= (n.11728-6T=) | |
5 | g.13708341A>G | CA557862790 | DNAH5 | n.459-6T>C c.13126-6T>C (n.13126-6T>C) c.13081-6T>C (n.13081-6T>C) c.13234-6T>C (n.13234-6T>C) c.12814-6T>C (n.12814-6T>C) c.12139-6T>C (n.12139-6T>C) c.8323-6T>C (n.8323-6T>C) c.7876-6T>C (n.7876-6T>C) c.7213-6T>C (n.7213-6T>C) c.11728-6T>C (n.11728-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708341A>T | CA2673266644 | DNAH5 | n.459-6T>A c.13126-6T>A (n.13126-6T>A) c.13081-6T>A (n.13081-6T>A) c.13234-6T>A (n.13234-6T>A) c.12814-6T>A (n.12814-6T>A) c.12139-6T>A (n.12139-6T>A) c.8323-6T>A (n.8323-6T>A) c.7876-6T>A (n.7876-6T>A) c.7213-6T>A (n.7213-6T>A) c.11728-6T>A (n.11728-6T>A) | gnomAD v4 |
5 | g.13708342T>A | CA1528403818 | DNAH5 | n.459-7A>T c.13126-7A>T (n.13126-7A>T) c.13081-7A>T (n.13081-7A>T) c.13234-7A>T (n.13234-7A>T) c.12814-7A>T (n.12814-7A>T) c.12139-7A>T (n.12139-7A>T) c.8323-7A>T (n.8323-7A>T) c.7876-7A>T (n.7876-7A>T) c.7213-7A>T (n.7213-7A>T) c.11728-7A>T (n.11728-7A>T) | dbSNP |
5 | g.13708342T>C | CA2580071999 | DNAH5 | n.459-7A>G c.13126-7A>G (n.13126-7A>G) c.13081-7A>G (n.13081-7A>G) c.13234-7A>G (n.13234-7A>G) c.12814-7A>G (n.12814-7A>G) c.12139-7A>G (n.12139-7A>G) c.8323-7A>G (n.8323-7A>G) c.7876-7A>G (n.7876-7A>G) c.7213-7A>G (n.7213-7A>G) c.11728-7A>G (n.11728-7A>G) | ClinVar gnomAD v4 |
5 | g.13708342T= | CA1528403817 | DNAH5 | n.459-7A= c.13126-7A= (n.13126-7A=) c.13081-7A= (n.13081-7A=) c.13234-7A= (n.13234-7A=) c.12814-7A= (n.12814-7A=) c.12139-7A= (n.12139-7A=) c.8323-7A= (n.8323-7A=) c.7876-7A= (n.7876-7A=) c.7213-7A= (n.7213-7A=) c.11728-7A= (n.11728-7A=) | |
5 | g.13708345A>T | CA2578269596 | DNAH5 | n.459-10T>A c.13126-10T>A (n.13126-10T>A) c.13081-10T>A (n.13081-10T>A) c.13234-10T>A (n.13234-10T>A) c.12814-10T>A (n.12814-10T>A) c.12139-10T>A (n.12139-10T>A) c.8323-10T>A (n.8323-10T>A) c.7876-10T>A (n.7876-10T>A) c.7213-10T>A (n.7213-10T>A) c.11728-10T>A (n.11728-10T>A) | |
5 | g.13708348C= | CA1528403819 | DNAH5 | n.459-13G= c.13126-13G= (n.13126-13G=) c.13081-13G= (n.13081-13G=) c.13234-13G= (n.13234-13G=) c.12814-13G= (n.12814-13G=) c.12139-13G= (n.12139-13G=) c.8323-13G= (n.8323-13G=) c.7876-13G= (n.7876-13G=) c.7213-13G= (n.7213-13G=) c.11728-13G= (n.11728-13G=) | |
5 | g.13708348C>T | CA557862791 | DNAH5 | n.459-13G>A c.13126-13G>A (n.13126-13G>A) c.13081-13G>A (n.13081-13G>A) c.13234-13G>A (n.13234-13G>A) c.12814-13G>A (n.12814-13G>A) c.12139-13G>A (n.12139-13G>A) c.8323-13G>A (n.8323-13G>A) c.7876-13G>A (n.7876-13G>A) c.7213-13G>A (n.7213-13G>A) c.11728-13G>A (n.11728-13G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708349A>G | CA2673266645 | DNAH5 | n.459-14T>C c.13126-14T>C (n.13126-14T>C) c.13081-14T>C (n.13081-14T>C) c.13234-14T>C (n.13234-14T>C) c.12814-14T>C (n.12814-14T>C) c.12139-14T>C (n.12139-14T>C) c.8323-14T>C (n.8323-14T>C) c.7876-14T>C (n.7876-14T>C) c.7213-14T>C (n.7213-14T>C) c.11728-14T>C (n.11728-14T>C) | gnomAD v4 |
5 | g.13708350T>C | CA2673266646 | DNAH5 | n.459-15A>G c.13126-15A>G (n.13126-15A>G) c.13081-15A>G (n.13081-15A>G) c.13234-15A>G (n.13234-15A>G) c.12814-15A>G (n.12814-15A>G) c.12139-15A>G (n.12139-15A>G) c.8323-15A>G (n.8323-15A>G) c.7876-15A>G (n.7876-15A>G) c.7213-15A>G (n.7213-15A>G) c.11728-15A>G (n.11728-15A>G) | gnomAD v4 |
5 | g.13708351T>G | CA2673266647 | DNAH5 | n.459-16A>C c.13126-16A>C (n.13126-16A>C) c.13081-16A>C (n.13081-16A>C) c.13234-16A>C (n.13234-16A>C) c.12814-16A>C (n.12814-16A>C) c.12139-16A>C (n.12139-16A>C) c.8323-16A>C (n.8323-16A>C) c.7876-16A>C (n.7876-16A>C) c.7213-16A>C (n.7213-16A>C) c.11728-16A>C (n.11728-16A>C) | gnomAD v4 |
5 | g.13708352C= | CA1528403820 | DNAH5 | n.459-17G= c.13126-17G= (n.13126-17G=) c.13081-17G= (n.13081-17G=) c.13234-17G= (n.13234-17G=) c.12814-17G= (n.12814-17G=) c.12139-17G= (n.12139-17G=) c.8323-17G= (n.8323-17G=) c.7876-17G= (n.7876-17G=) c.7213-17G= (n.7213-17G=) c.11728-17G= (n.11728-17G=) | |
5 | g.13708352C>G | CA1528403821 | DNAH5 | n.459-17G>C c.13126-17G>C (n.13126-17G>C) c.13081-17G>C (n.13081-17G>C) c.13234-17G>C (n.13234-17G>C) c.12814-17G>C (n.12814-17G>C) c.12139-17G>C (n.12139-17G>C) c.8323-17G>C (n.8323-17G>C) c.7876-17G>C (n.7876-17G>C) c.7213-17G>C (n.7213-17G>C) c.11728-17G>C (n.11728-17G>C) | dbSNP |
5 | g.13708356G= | CA1528403822 | DNAH5 | n.459-21C= c.13126-21C= (n.13126-21C=) c.13081-21C= (n.13081-21C=) c.13234-21C= (n.13234-21C=) c.12814-21C= (n.12814-21C=) c.12139-21C= (n.12139-21C=) c.8323-21C= (n.8323-21C=) c.7876-21C= (n.7876-21C=) c.7213-21C= (n.7213-21C=) c.11728-21C= (n.11728-21C=) | |
5 | g.13708356G>T | CA557862792 | DNAH5 | n.459-21C>A c.13126-21C>A (n.13126-21C>A) c.13081-21C>A (n.13081-21C>A) c.13234-21C>A (n.13234-21C>A) c.12814-21C>A (n.12814-21C>A) c.12139-21C>A (n.12139-21C>A) c.8323-21C>A (n.8323-21C>A) c.7876-21C>A (n.7876-21C>A) c.7213-21C>A (n.7213-21C>A) c.11728-21C>A (n.11728-21C>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708357C= | CA1528403823 | DNAH5 | n.459-22G= c.13126-22G= (n.13126-22G=) c.13081-22G= (n.13081-22G=) c.13234-22G= (n.13234-22G=) c.12814-22G= (n.12814-22G=) c.12139-22G= (n.12139-22G=) c.8323-22G= (n.8323-22G=) c.7876-22G= (n.7876-22G=) c.7213-22G= (n.7213-22G=) c.11728-22G= (n.11728-22G=) | |
5 | g.13708357C>T | CA3201437 | DNAH5 | n.459-22G>A c.13126-22G>A (n.13126-22G>A) c.13081-22G>A (n.13081-22G>A) c.13234-22G>A (n.13234-22G>A) c.12814-22G>A (n.12814-22G>A) c.12139-22G>A (n.12139-22G>A) c.8323-22G>A (n.8323-22G>A) c.7876-22G>A (n.7876-22G>A) c.7213-22G>A (n.7213-22G>A) c.11728-22G>A (n.11728-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708359C= | CA1528403824 | DNAH5 | n.459-24G= c.13126-24G= (n.13126-24G=) c.13081-24G= (n.13081-24G=) c.13234-24G= (n.13234-24G=) c.12814-24G= (n.12814-24G=) c.12139-24G= (n.12139-24G=) c.8323-24G= (n.8323-24G=) c.7876-24G= (n.7876-24G=) c.7213-24G= (n.7213-24G=) c.11728-24G= (n.11728-24G=) | |
5 | g.13708359C>T | CA3201438 | DNAH5 | n.459-24G>A c.13126-24G>A (n.13126-24G>A) c.13081-24G>A (n.13081-24G>A) c.13234-24G>A (n.13234-24G>A) c.12814-24G>A (n.12814-24G>A) c.12139-24G>A (n.12139-24G>A) c.8323-24G>A (n.8323-24G>A) c.7876-24G>A (n.7876-24G>A) c.7213-24G>A (n.7213-24G>A) c.11728-24G>A (n.11728-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708360A= | CA1528403825 | DNAH5 | n.459-25T= c.13126-25T= (n.13126-25T=) c.13081-25T= (n.13081-25T=) c.13234-25T= (n.13234-25T=) c.12814-25T= (n.12814-25T=) c.12139-25T= (n.12139-25T=) c.8323-25T= (n.8323-25T=) c.7876-25T= (n.7876-25T=) c.7213-25T= (n.7213-25T=) c.11728-25T= (n.11728-25T=) | |
5 | g.13708360A>C | CA3201439 | DNAH5 | n.459-25T>G c.13126-25T>G (n.13126-25T>G) c.13081-25T>G (n.13081-25T>G) c.13234-25T>G (n.13234-25T>G) c.12814-25T>G (n.12814-25T>G) c.12139-25T>G (n.12139-25T>G) c.8323-25T>G (n.8323-25T>G) c.7876-25T>G (n.7876-25T>G) c.7213-25T>G (n.7213-25T>G) c.11728-25T>G (n.11728-25T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708360A>G | CA2578269597 | DNAH5 | n.459-25T>C c.13126-25T>C (n.13126-25T>C) c.13081-25T>C (n.13081-25T>C) c.13234-25T>C (n.13234-25T>C) c.12814-25T>C (n.12814-25T>C) c.12139-25T>C (n.12139-25T>C) c.8323-25T>C (n.8323-25T>C) c.7876-25T>C (n.7876-25T>C) c.7213-25T>C (n.7213-25T>C) c.11728-25T>C (n.11728-25T>C) | |
5 | g.13708360_13708370delinsATGTTAACAAT | CA1528403826 | DNAH5 | n.459-35_459-25delinsATTGTTAACAT c.13126-35_13126-25delinsATTGTTAACAT (n.13126-35_13126-25delinsATTGTTAACAT) c.13081-35_13081-25delinsATTGTTAACAT (n.13081-35_13081-25delinsATTGTTAACAT) c.13234-35_13234-25delinsATTGTTAACAT (n.13234-35_13234-25delinsATTGTTAACAT) c.12814-35_12814-25delinsATTGTTAACAT (n.12814-35_12814-25delinsATTGTTAACAT) c.12139-35_12139-25delinsATTGTTAACAT (n.12139-35_12139-25delinsATTGTTAACAT) c.8323-35_8323-25delinsATTGTTAACAT (n.8323-35_8323-25delinsATTGTTAACAT) c.7876-35_7876-25delinsATTGTTAACAT (n.7876-35_7876-25delinsATTGTTAACAT) c.7213-35_7213-25delinsATTGTTAACAT (n.7213-35_7213-25delinsATTGTTAACAT) c.11728-35_11728-25delinsATTGTTAACAT (n.11728-35_11728-25delinsATTGTTAACAT) | |
5 | g.13708361T>A | CA1528403828 | DNAH5 | n.459-26A>T c.13126-26A>T (n.13126-26A>T) c.13081-26A>T (n.13081-26A>T) c.13234-26A>T (n.13234-26A>T) c.12814-26A>T (n.12814-26A>T) c.12139-26A>T (n.12139-26A>T) c.8323-26A>T (n.8323-26A>T) c.7876-26A>T (n.7876-26A>T) c.7213-26A>T (n.7213-26A>T) c.11728-26A>T (n.11728-26A>T) | dbSNP |
5 | g.13708361T>C | CA3201440 | DNAH5 | n.459-26A>G c.13126-26A>G (n.13126-26A>G) c.13081-26A>G (n.13081-26A>G) c.13234-26A>G (n.13234-26A>G) c.12814-26A>G (n.12814-26A>G) c.12139-26A>G (n.12139-26A>G) c.8323-26A>G (n.8323-26A>G) c.7876-26A>G (n.7876-26A>G) c.7213-26A>G (n.7213-26A>G) c.11728-26A>G (n.11728-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708361T= | CA1528403827 | DNAH5 | n.459-26A= c.13126-26A= (n.13126-26A=) c.13081-26A= (n.13081-26A=) c.13234-26A= (n.13234-26A=) c.12814-26A= (n.12814-26A=) c.12139-26A= (n.12139-26A=) c.8323-26A= (n.8323-26A=) c.7876-26A= (n.7876-26A=) c.7213-26A= (n.7213-26A=) c.11728-26A= (n.11728-26A=) | |
5 | g.13708362_13708371del | CA804359731 | DNAH5 | n.459-35_459-26del c.13126-35_13126-26del (n.13126-35_13126-26del) c.13081-35_13081-26del (n.13081-35_13081-26del) c.13234-35_13234-26del (n.13234-35_13234-26del) c.12814-35_12814-26del (n.12814-35_12814-26del) c.12139-35_12139-26del (n.12139-35_12139-26del) c.8323-35_8323-26del (n.8323-35_8323-26del) c.7876-35_7876-26del (n.7876-35_7876-26del) c.7213-35_7213-26del (n.7213-35_7213-26del) c.11728-35_11728-26del (n.11728-35_11728-26del) | dbSNP gnomAD v4 |
5 | g.13708362G>T | CA649755449 | DNAH5 | n.459-27C>A c.13126-27C>A (n.13126-27C>A) c.13081-27C>A (n.13081-27C>A) c.13234-27C>A (n.13234-27C>A) c.12814-27C>A (n.12814-27C>A) c.12139-27C>A (n.12139-27C>A) c.8323-27C>A (n.8323-27C>A) c.7876-27C>A (n.7876-27C>A) c.7213-27C>A (n.7213-27C>A) c.11728-27C>A (n.11728-27C>A) | COSMIC |
5 | g.13708363T>C | CA1528403830 | DNAH5 | n.459-28A>G c.13126-28A>G (n.13126-28A>G) c.13081-28A>G (n.13081-28A>G) c.13234-28A>G (n.13234-28A>G) c.12814-28A>G (n.12814-28A>G) c.12139-28A>G (n.12139-28A>G) c.8323-28A>G (n.8323-28A>G) c.7876-28A>G (n.7876-28A>G) c.7213-28A>G (n.7213-28A>G) c.11728-28A>G (n.11728-28A>G) | dbSNP |
5 | g.13708363T>G | CA3201441 | DNAH5 | n.459-28A>C c.13126-28A>C (n.13126-28A>C) c.13081-28A>C (n.13081-28A>C) c.13234-28A>C (n.13234-28A>C) c.12814-28A>C (n.12814-28A>C) c.12139-28A>C (n.12139-28A>C) c.8323-28A>C (n.8323-28A>C) c.7876-28A>C (n.7876-28A>C) c.7213-28A>C (n.7213-28A>C) c.11728-28A>C (n.11728-28A>C) | dbSNP ExAC gnomAD v2 |
5 | g.13708363T= | CA1528403829 | DNAH5 | n.459-28A= c.13126-28A= (n.13126-28A=) c.13081-28A= (n.13081-28A=) c.13234-28A= (n.13234-28A=) c.12814-28A= (n.12814-28A=) c.12139-28A= (n.12139-28A=) c.8323-28A= (n.8323-28A=) c.7876-28A= (n.7876-28A=) c.7213-28A= (n.7213-28A=) c.11728-28A= (n.11728-28A=) | |
5 | g.13708366A>T | CA2673266648 | DNAH5 | n.459-31T>A c.13126-31T>A (n.13126-31T>A) c.13081-31T>A (n.13081-31T>A) c.13234-31T>A (n.13234-31T>A) c.12814-31T>A (n.12814-31T>A) c.12139-31T>A (n.12139-31T>A) c.8323-31T>A (n.8323-31T>A) c.7876-31T>A (n.7876-31T>A) c.7213-31T>A (n.7213-31T>A) c.11728-31T>A (n.11728-31T>A) | gnomAD v4 |
5 | g.13708368A= | CA1528403831 | DNAH5 | n.459-33T= c.13126-33T= (n.13126-33T=) c.13081-33T= (n.13081-33T=) c.13234-33T= (n.13234-33T=) c.12814-33T= (n.12814-33T=) c.12139-33T= (n.12139-33T=) c.8323-33T= (n.8323-33T=) c.7876-33T= (n.7876-33T=) c.7213-33T= (n.7213-33T=) c.11728-33T= (n.11728-33T=) | |
5 | g.13708368A>G | CA1073393600 | DNAH5 | n.459-33T>C c.13126-33T>C (n.13126-33T>C) c.13081-33T>C (n.13081-33T>C) c.13234-33T>C (n.13234-33T>C) c.12814-33T>C (n.12814-33T>C) c.12139-33T>C (n.12139-33T>C) c.8323-33T>C (n.8323-33T>C) c.7876-33T>C (n.7876-33T>C) c.7213-33T>C (n.7213-33T>C) c.11728-33T>C (n.11728-33T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13708369_13708385delinsATTAGCTACTAAGGATT | CA1528403832 | DNAH5 | n.459-50_459-34delinsAATCCTTAGTAGCTAAT c.13126-50_13126-34delinsAATCCTTAGTAGCTAAT (n.13126-50_13126-34delinsAATCCTTAGTAGCTAAT) c.13081-50_13081-34delinsAATCCTTAGTAGCTAAT (n.13081-50_13081-34delinsAATCCTTAGTAGCTAAT) c.13234-50_13234-34delinsAATCCTTAGTAGCTAAT (n.13234-50_13234-34delinsAATCCTTAGTAGCTAAT) c.12814-50_12814-34delinsAATCCTTAGTAGCTAAT (n.12814-50_12814-34delinsAATCCTTAGTAGCTAAT) c.12139-50_12139-34delinsAATCCTTAGTAGCTAAT (n.12139-50_12139-34delinsAATCCTTAGTAGCTAAT) c.8323-50_8323-34delinsAATCCTTAGTAGCTAAT (n.8323-50_8323-34delinsAATCCTTAGTAGCTAAT) c.7876-50_7876-34delinsAATCCTTAGTAGCTAAT (n.7876-50_7876-34delinsAATCCTTAGTAGCTAAT) c.7213-50_7213-34delinsAATCCTTAGTAGCTAAT (n.7213-50_7213-34delinsAATCCTTAGTAGCTAAT) c.11728-50_11728-34delinsAATCCTTAGTAGCTAAT (n.11728-50_11728-34delinsAATCCTTAGTAGCTAAT) | |
5 | g.13708373_13708388del | CA3201442 | DNAH5 | n.459-50_459-35del c.13126-50_13126-35del (n.13126-50_13126-35del) c.13081-50_13081-35del (n.13081-50_13081-35del) c.13234-50_13234-35del (n.13234-50_13234-35del) c.12814-50_12814-35del (n.12814-50_12814-35del) c.12139-50_12139-35del (n.12139-50_12139-35del) c.8323-50_8323-35del (n.8323-50_8323-35del) c.7876-50_7876-35del (n.7876-50_7876-35del) c.7213-50_7213-35del (n.7213-50_7213-35del) c.11728-50_11728-35del (n.11728-50_11728-35del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708371T>C | CA2673266649 | DNAH5 | n.459-36A>G c.13126-36A>G (n.13126-36A>G) c.13081-36A>G (n.13081-36A>G) c.13234-36A>G (n.13234-36A>G) c.12814-36A>G (n.12814-36A>G) c.12139-36A>G (n.12139-36A>G) c.8323-36A>G (n.8323-36A>G) c.7876-36A>G (n.7876-36A>G) c.7213-36A>G (n.7213-36A>G) c.11728-36A>G (n.11728-36A>G) | gnomAD v4 |
5 | g.13708374C>A | CA2581471039 | DNAH5 | n.459-39G>T c.13126-39G>T (n.13126-39G>T) c.13081-39G>T (n.13081-39G>T) c.13234-39G>T (n.13234-39G>T) c.12814-39G>T (n.12814-39G>T) c.12139-39G>T (n.12139-39G>T) c.8323-39G>T (n.8323-39G>T) c.7876-39G>T (n.7876-39G>T) c.7213-39G>T (n.7213-39G>T) c.11728-39G>T (n.11728-39G>T) | |
5 | g.13708374C= | CA1528403833 | DNAH5 | n.459-39G= c.13126-39G= (n.13126-39G=) c.13081-39G= (n.13081-39G=) c.13234-39G= (n.13234-39G=) c.12814-39G= (n.12814-39G=) c.12139-39G= (n.12139-39G=) c.8323-39G= (n.8323-39G=) c.7876-39G= (n.7876-39G=) c.7213-39G= (n.7213-39G=) c.11728-39G= (n.11728-39G=) | |
5 | g.13708374C>G | CA2581471040 | DNAH5 | n.459-39G>C c.13126-39G>C (n.13126-39G>C) c.13081-39G>C (n.13081-39G>C) c.13234-39G>C (n.13234-39G>C) c.12814-39G>C (n.12814-39G>C) c.12139-39G>C (n.12139-39G>C) c.8323-39G>C (n.8323-39G>C) c.7876-39G>C (n.7876-39G>C) c.7213-39G>C (n.7213-39G>C) c.11728-39G>C (n.11728-39G>C) | |
5 | g.13708374C>T | CA3201443 | DNAH5 | n.459-39G>A c.13126-39G>A (n.13126-39G>A) c.13081-39G>A (n.13081-39G>A) c.13234-39G>A (n.13234-39G>A) c.12814-39G>A (n.12814-39G>A) c.12139-39G>A (n.12139-39G>A) c.8323-39G>A (n.8323-39G>A) c.7876-39G>A (n.7876-39G>A) c.7213-39G>A (n.7213-39G>A) c.11728-39G>A (n.11728-39G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13708375T>A | CA2673266650 | DNAH5 | n.459-40A>T c.13126-40A>T (n.13126-40A>T) c.13081-40A>T (n.13081-40A>T) c.13234-40A>T (n.13234-40A>T) c.12814-40A>T (n.12814-40A>T) c.12139-40A>T (n.12139-40A>T) c.8323-40A>T (n.8323-40A>T) c.7876-40A>T (n.7876-40A>T) c.7213-40A>T (n.7213-40A>T) c.11728-40A>T (n.11728-40A>T) | gnomAD v4 |
5 | g.13708377C>T | CA2673266651 | DNAH5 | n.459-42G>A c.13126-42G>A (n.13126-42G>A) c.13081-42G>A (n.13081-42G>A) c.13234-42G>A (n.13234-42G>A) c.12814-42G>A (n.12814-42G>A) c.12139-42G>A (n.12139-42G>A) c.8323-42G>A (n.8323-42G>A) c.7876-42G>A (n.7876-42G>A) c.7213-42G>A (n.7213-42G>A) c.11728-42G>A (n.11728-42G>A) | gnomAD v4 |
5 | g.13708380A= | CA1528403834 | DNAH5 | n.459-45T= c.13126-45T= (n.13126-45T=) c.13081-45T= (n.13081-45T=) c.13234-45T= (n.13234-45T=) c.12814-45T= (n.12814-45T=) c.12139-45T= (n.12139-45T=) c.8323-45T= (n.8323-45T=) c.7876-45T= (n.7876-45T=) c.7213-45T= (n.7213-45T=) c.11728-45T= (n.11728-45T=) | |
5 | g.13708380A>C | CA557862793 | DNAH5 | n.459-45T>G c.13126-45T>G (n.13126-45T>G) c.13081-45T>G (n.13081-45T>G) c.13234-45T>G (n.13234-45T>G) c.12814-45T>G (n.12814-45T>G) c.12139-45T>G (n.12139-45T>G) c.8323-45T>G (n.8323-45T>G) c.7876-45T>G (n.7876-45T>G) c.7213-45T>G (n.7213-45T>G) c.11728-45T>G (n.11728-45T>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13708381G= | CA1528403835 | DNAH5 | n.459-46C= c.13126-46C= (n.13126-46C=) c.13081-46C= (n.13081-46C=) c.13234-46C= (n.13234-46C=) c.12814-46C= (n.12814-46C=) c.12139-46C= (n.12139-46C=) c.8323-46C= (n.8323-46C=) c.7876-46C= (n.7876-46C=) c.7213-46C= (n.7213-46C=) c.11728-46C= (n.11728-46C=) | |
5 | g.13708381G>T | CA113911155 | DNAH5 | n.459-46C>A c.13126-46C>A (n.13126-46C>A) c.13081-46C>A (n.13081-46C>A) c.13234-46C>A (n.13234-46C>A) c.12814-46C>A (n.12814-46C>A) c.12139-46C>A (n.12139-46C>A) c.8323-46C>A (n.8323-46C>A) c.7876-46C>A (n.7876-46C>A) c.7213-46C>A (n.7213-46C>A) c.11728-46C>A (n.11728-46C>A) | dbSNP gnomAD v4 |