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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13708162_13708164delinsATC | CA1528403743 | DNAH5 | n.630_632delinsGAT c.13297_13299delinsGAT (p.Asp4433=) c.13252_13254delinsGAT (p.Asp4418=) c.13405_13407delinsGAT (p.Asp4469=) c.12985_12987delinsGAT (p.Asp4329=) c.12310_12312delinsGAT (p.Asp4104=) c.8494_8496delinsGAT (p.Asp2832=) c.8047_8049delinsGAT (p.Asp2683=) c.7384_7386delinsGAT (p.Asp2462=) c.11899_11901delinsGAT (p.Asp3967=) | |
| 5 | g.13708163T>A | CA359196594 | DNAH5 | n.631A>T c.13298A>T (p.Asp4433Val) c.13253A>T (p.Asp4418Val) c.13406A>T (p.Asp4469Val) c.12986A>T (p.Asp4329Val) c.12311A>T (p.Asp4104Val) c.8495A>T (p.Asp2832Val) c.8048A>T (p.Asp2683Val) c.7385A>T (p.Asp2462Val) c.11900A>T (p.Asp3967Val) | |
| 5 | g.13708163T>C | CA359196587 | DNAH5 | n.631A>G c.13298A>G (p.Asp4433Gly) c.13253A>G (p.Asp4418Gly) c.13406A>G (p.Asp4469Gly) c.12986A>G (p.Asp4329Gly) c.12311A>G (p.Asp4104Gly) c.8495A>G (p.Asp2832Gly) c.8048A>G (p.Asp2683Gly) c.7385A>G (p.Asp2462Gly) c.11900A>G (p.Asp3967Gly) | |
| 5 | g.13708163T>G | CA359196590 | DNAH5 | n.631A>C c.13298A>C (p.Asp4433Ala) c.13253A>C (p.Asp4418Ala) c.13406A>C (p.Asp4469Ala) c.12986A>C (p.Asp4329Ala) c.12311A>C (p.Asp4104Ala) c.8495A>C (p.Asp2832Ala) c.8048A>C (p.Asp2683Ala) c.7385A>C (p.Asp2462Ala) c.11900A>C (p.Asp3967Ala) | |
| 5 | g.13708163_13708164del | CA1528403744 | DNAH5 | n.630_631del c.13297_13298del (p.Asp4433LeufsTer4) c.13252_13253del (p.Asp4418LeufsTer4) c.13405_13406del (p.Asp4469LeufsTer4) c.12985_12986del (p.Asp4329LeufsTer4) c.12310_12311del (p.Asp4104LeufsTer4) c.8494_8495del (p.Asp2832LeufsTer4) c.8047_8048del (p.Asp2683LeufsTer4) c.7384_7385del (p.Asp2462LeufsTer4) c.11899_11900del (p.Asp3967LeufsTer4) | dbSNP |
| 5 | g.13708164C>A | CA113910978 | DNAH5 | n.630G>T c.13297G>T (p.Asp4433Tyr) c.13252G>T (p.Asp4418Tyr) c.13405G>T (p.Asp4469Tyr) c.12985G>T (p.Asp4329Tyr) c.12310G>T (p.Asp4104Tyr) c.8494G>T (p.Asp2832Tyr) c.8047G>T (p.Asp2683Tyr) c.7384G>T (p.Asp2462Tyr) c.11899G>T (p.Asp3967Tyr) | dbSNP |
| 5 | g.13708164C= | CA1528403745 | DNAH5 | n.630G= c.13297G= (p.Asp4433=) c.13252G= (p.Asp4418=) c.13405G= (p.Asp4469=) c.12985G= (p.Asp4329=) c.12310G= (p.Asp4104=) c.8494G= (p.Asp2832=) c.8047G= (p.Asp2683=) c.7384G= (p.Asp2462=) c.11899G= (p.Asp3967=) | |
| 5 | g.13708164C>G | CA359196599 | DNAH5 | n.630G>C c.13297G>C (p.Asp4433His) c.13252G>C (p.Asp4418His) c.13405G>C (p.Asp4469His) c.12985G>C (p.Asp4329His) c.12310G>C (p.Asp4104His) c.8494G>C (p.Asp2832His) c.8047G>C (p.Asp2683His) c.7384G>C (p.Asp2462His) c.11899G>C (p.Asp3967His) | |
| 5 | g.13708164C>T | CA359196602 | DNAH5 | n.630G>A c.13297G>A (p.Asp4433Asn) c.13252G>A (p.Asp4418Asn) c.13405G>A (p.Asp4469Asn) c.12985G>A (p.Asp4329Asn) c.12310G>A (p.Asp4104Asn) c.8494G>A (p.Asp2832Asn) c.8047G>A (p.Asp2683Asn) c.7384G>A (p.Asp2462Asn) c.11899G>A (p.Asp3967Asn) | COSMIC |
| 5 | g.13708165C>A | CA359196606 | DNAH5 | n.629G>T c.13296G>T (p.Leu4432Phe) c.13251G>T (p.Leu4417Phe) c.13404G>T (p.Leu4468Phe) c.12984G>T (p.Leu4328Phe) c.12309G>T (p.Leu4103Phe) c.8493G>T (p.Leu2831Phe) c.8046G>T (p.Leu2682Phe) c.7383G>T (p.Leu2461Phe) c.11898G>T (p.Leu3966Phe) | dbSNP gnomAD v4 |
| 5 | g.13708165C= | CA1528403746 | DNAH5 | n.629G= c.13296G= (p.Leu4432=) c.13251G= (p.Leu4417=) c.13404G= (p.Leu4468=) c.12984G= (p.Leu4328=) c.12309G= (p.Leu4103=) c.8493G= (p.Leu2831=) c.8046G= (p.Leu2682=) c.7383G= (p.Leu2461=) c.11898G= (p.Leu3966=) | |
| 5 | g.13708165C>G | CA359196609 | DNAH5 | n.629G>C c.13296G>C (p.Leu4432Phe) c.13251G>C (p.Leu4417Phe) c.13404G>C (p.Leu4468Phe) c.12984G>C (p.Leu4328Phe) c.12309G>C (p.Leu4103Phe) c.8493G>C (p.Leu2831Phe) c.8046G>C (p.Leu2682Phe) c.7383G>C (p.Leu2461Phe) c.11898G>C (p.Leu3966Phe) | |
| 5 | g.13708165C>T | CA443251072 | DNAH5 | n.629G>A c.13296G>A (p.Leu4432=) c.13251G>A (p.Leu4417=) c.13404G>A (p.Leu4468=) c.12984G>A (p.Leu4328=) c.12309G>A (p.Leu4103=) c.8493G>A (p.Leu2831=) c.8046G>A (p.Leu2682=) c.7383G>A (p.Leu2461=) c.11898G>A (p.Leu3966=) | gnomAD v4 |
| 5 | g.13708166A>C | CA359196612 | DNAH5 | n.628T>G c.13295T>G (p.Leu4432Trp) c.13250T>G (p.Leu4417Trp) c.13403T>G (p.Leu4468Trp) c.12983T>G (p.Leu4328Trp) c.12308T>G (p.Leu4103Trp) c.8492T>G (p.Leu2831Trp) c.8045T>G (p.Leu2682Trp) c.7382T>G (p.Leu2461Trp) c.11897T>G (p.Leu3966Trp) | gnomAD v4 |
| 5 | g.13708166A>G | CA359196616 | DNAH5 | n.628T>C c.13295T>C (p.Leu4432Ser) c.13250T>C (p.Leu4417Ser) c.13403T>C (p.Leu4468Ser) c.12983T>C (p.Leu4328Ser) c.12308T>C (p.Leu4103Ser) c.8492T>C (p.Leu2831Ser) c.8045T>C (p.Leu2682Ser) c.7382T>C (p.Leu2461Ser) c.11897T>C (p.Leu3966Ser) | |
| 5 | g.13708166A>T | CA359196619 | DNAH5 | n.628T>A c.13295T>A (p.Leu4432Ter) c.13250T>A (p.Leu4417Ter) c.13403T>A (p.Leu4468Ter) c.12983T>A (p.Leu4328Ter) c.12308T>A (p.Leu4103Ter) c.8492T>A (p.Leu2831Ter) c.8045T>A (p.Leu2682Ter) c.7382T>A (p.Leu2461Ter) c.11897T>A (p.Leu3966Ter) | |
| 5 | g.13708167A= | CA1528403747 | DNAH5 | n.627T= c.13294T= (p.Leu4432=) c.13249T= (p.Leu4417=) c.13402T= (p.Leu4468=) c.12982T= (p.Leu4328=) c.12307T= (p.Leu4103=) c.8491T= (p.Leu2831=) c.8044T= (p.Leu2682=) c.7381T= (p.Leu2461=) c.11896T= (p.Leu3966=) | |
| 5 | g.13708167A>C | CA359196623 | DNAH5 | n.627T>G c.13294T>G (p.Leu4432Val) c.13249T>G (p.Leu4417Val) c.13402T>G (p.Leu4468Val) c.12982T>G (p.Leu4328Val) c.12307T>G (p.Leu4103Val) c.8491T>G (p.Leu2831Val) c.8044T>G (p.Leu2682Val) c.7381T>G (p.Leu2461Val) c.11896T>G (p.Leu3966Val) | |
| 5 | g.13708167A>G | CA443251073 | DNAH5 | n.627T>C c.13294T>C (p.Leu4432=) c.13249T>C (p.Leu4417=) c.13402T>C (p.Leu4468=) c.12982T>C (p.Leu4328=) c.12307T>C (p.Leu4103=) c.8491T>C (p.Leu2831=) c.8044T>C (p.Leu2682=) c.7381T>C (p.Leu2461=) c.11896T>C (p.Leu3966=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13708167A>T | CA359196625 | DNAH5 | n.627T>A c.13294T>A (p.Leu4432Met) c.13249T>A (p.Leu4417Met) c.13402T>A (p.Leu4468Met) c.12982T>A (p.Leu4328Met) c.12307T>A (p.Leu4103Met) c.8491T>A (p.Leu2831Met) c.8044T>A (p.Leu2682Met) c.7381T>A (p.Leu2461Met) c.11896T>A (p.Leu3966Met) | |
| 5 | g.13708168T>A | CA443251074 | DNAH5 | n.626A>T c.13293A>T (p.Ala4431=) c.13248A>T (p.Ala4416=) c.13401A>T (p.Ala4467=) c.12981A>T (p.Ala4327=) c.12306A>T (p.Ala4102=) c.8490A>T (p.Ala2830=) c.8043A>T (p.Ala2681=) c.7380A>T (p.Ala2460=) c.11895A>T (p.Ala3965=) | gnomAD v4 |
| 5 | g.13708168T>C | CA443251075 | DNAH5 | n.626A>G c.13293A>G (p.Ala4431=) c.13248A>G (p.Ala4416=) c.13401A>G (p.Ala4467=) c.12981A>G (p.Ala4327=) c.12306A>G (p.Ala4102=) c.8490A>G (p.Ala2830=) c.8043A>G (p.Ala2681=) c.7380A>G (p.Ala2460=) c.11895A>G (p.Ala3965=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13708168T>G | CA443251076 | DNAH5 | n.626A>C c.13293A>C (p.Ala4431=) c.13248A>C (p.Ala4416=) c.13401A>C (p.Ala4467=) c.12981A>C (p.Ala4327=) c.12306A>C (p.Ala4102=) c.8490A>C (p.Ala2830=) c.8043A>C (p.Ala2681=) c.7380A>C (p.Ala2460=) c.11895A>C (p.Ala3965=) | gnomAD v4 |
| 5 | g.13708169G>A | CA3201404 | DNAH5 | n.625C>T c.13292C>T (p.Ala4431Val) c.13247C>T (p.Ala4416Val) c.13400C>T (p.Ala4467Val) c.12980C>T (p.Ala4327Val) c.12305C>T (p.Ala4102Val) c.8489C>T (p.Ala2830Val) c.8042C>T (p.Ala2681Val) c.7379C>T (p.Ala2460Val) c.11894C>T (p.Ala3965Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708169G>C | CA359196632 | DNAH5 | n.625C>G c.13292C>G (p.Ala4431Gly) c.13247C>G (p.Ala4416Gly) c.13400C>G (p.Ala4467Gly) c.12980C>G (p.Ala4327Gly) c.12305C>G (p.Ala4102Gly) c.8489C>G (p.Ala2830Gly) c.8042C>G (p.Ala2681Gly) c.7379C>G (p.Ala2460Gly) c.11894C>G (p.Ala3965Gly) | |
| 5 | g.13708169G= | CA1528403748 | DNAH5 | n.625C= c.13292C= (p.Ala4431=) c.13247C= (p.Ala4416=) c.13400C= (p.Ala4467=) c.12980C= (p.Ala4327=) c.12305C= (p.Ala4102=) c.8489C= (p.Ala2830=) c.8042C= (p.Ala2681=) c.7379C= (p.Ala2460=) c.11894C= (p.Ala3965=) | |
| 5 | g.13708169G>T | CA359196635 | DNAH5 | n.625C>A c.13292C>A (p.Ala4431Glu) c.13247C>A (p.Ala4416Glu) c.13400C>A (p.Ala4467Glu) c.12980C>A (p.Ala4327Glu) c.12305C>A (p.Ala4102Glu) c.8489C>A (p.Ala2830Glu) c.8042C>A (p.Ala2681Glu) c.7379C>A (p.Ala2460Glu) c.11894C>A (p.Ala3965Glu) | |
| 5 | g.13708170C>A | CA359196646 | DNAH5 | n.624G>T c.13291G>T (p.Ala4431Ser) c.13246G>T (p.Ala4416Ser) c.13399G>T (p.Ala4467Ser) c.12979G>T (p.Ala4327Ser) c.12304G>T (p.Ala4102Ser) c.8488G>T (p.Ala2830Ser) c.8041G>T (p.Ala2681Ser) c.7378G>T (p.Ala2460Ser) c.11893G>T (p.Ala3965Ser) | |
| 5 | g.13708170C>G | CA359196642 | DNAH5 | n.624G>C c.13291G>C (p.Ala4431Pro) c.13246G>C (p.Ala4416Pro) c.13399G>C (p.Ala4467Pro) c.12979G>C (p.Ala4327Pro) c.12304G>C (p.Ala4102Pro) c.8488G>C (p.Ala2830Pro) c.8041G>C (p.Ala2681Pro) c.7378G>C (p.Ala2460Pro) c.11893G>C (p.Ala3965Pro) | |
| 5 | g.13708170C>T | CA359196640 | DNAH5 | n.624G>A c.13291G>A (p.Ala4431Thr) c.13246G>A (p.Ala4416Thr) c.13399G>A (p.Ala4467Thr) c.12979G>A (p.Ala4327Thr) c.12304G>A (p.Ala4102Thr) c.8488G>A (p.Ala2830Thr) c.8041G>A (p.Ala2681Thr) c.7378G>A (p.Ala2460Thr) c.11893G>A (p.Ala3965Thr) | |
| 5 | g.13708171A>C | CA359196651 | DNAH5 | n.623T>G c.13290T>G (p.Asp4430Glu) c.13245T>G (p.Asp4415Glu) c.13398T>G (p.Asp4466Glu) c.12978T>G (p.Asp4326Glu) c.12303T>G (p.Asp4101Glu) c.8487T>G (p.Asp2829Glu) c.8040T>G (p.Asp2680Glu) c.7377T>G (p.Asp2459Glu) c.11892T>G (p.Asp3964Glu) | |
| 5 | g.13708171A>G | CA443251079 | DNAH5 | n.623T>C c.13290T>C (p.Asp4430=) c.13245T>C (p.Asp4415=) c.13398T>C (p.Asp4466=) c.12978T>C (p.Asp4326=) c.12303T>C (p.Asp4101=) c.8487T>C (p.Asp2829=) c.8040T>C (p.Asp2680=) c.7377T>C (p.Asp2459=) c.11892T>C (p.Asp3964=) | gnomAD v4 |
| 5 | g.13708171A>T | CA359196653 | DNAH5 | n.623T>A c.13290T>A (p.Asp4430Glu) c.13245T>A (p.Asp4415Glu) c.13398T>A (p.Asp4466Glu) c.12978T>A (p.Asp4326Glu) c.12303T>A (p.Asp4101Glu) c.8487T>A (p.Asp2829Glu) c.8040T>A (p.Asp2680Glu) c.7377T>A (p.Asp2459Glu) c.11892T>A (p.Asp3964Glu) | |
| 5 | g.13708172T>A | CA359196660 | DNAH5 | n.622A>T c.13289A>T (p.Asp4430Val) c.13244A>T (p.Asp4415Val) c.13397A>T (p.Asp4466Val) c.12977A>T (p.Asp4326Val) c.12302A>T (p.Asp4101Val) c.8486A>T (p.Asp2829Val) c.8039A>T (p.Asp2680Val) c.7376A>T (p.Asp2459Val) c.11891A>T (p.Asp3964Val) | |
| 5 | g.13708172T>C | CA359196663 | DNAH5 | n.622A>G c.13289A>G (p.Asp4430Gly) c.13244A>G (p.Asp4415Gly) c.13397A>G (p.Asp4466Gly) c.12977A>G (p.Asp4326Gly) c.12302A>G (p.Asp4101Gly) c.8486A>G (p.Asp2829Gly) c.8039A>G (p.Asp2680Gly) c.7376A>G (p.Asp2459Gly) c.11891A>G (p.Asp3964Gly) | |
| 5 | g.13708172T>G | CA359196666 | DNAH5 | n.622A>C c.13289A>C (p.Asp4430Ala) c.13244A>C (p.Asp4415Ala) c.13397A>C (p.Asp4466Ala) c.12977A>C (p.Asp4326Ala) c.12302A>C (p.Asp4101Ala) c.8486A>C (p.Asp2829Ala) c.8039A>C (p.Asp2680Ala) c.7376A>C (p.Asp2459Ala) c.11891A>C (p.Asp3964Ala) | |
| 5 | g.13708173C>A | CA359196670 | DNAH5 | n.621G>T c.13288G>T (p.Asp4430Tyr) c.13243G>T (p.Asp4415Tyr) c.13396G>T (p.Asp4466Tyr) c.12976G>T (p.Asp4326Tyr) c.12301G>T (p.Asp4101Tyr) c.8485G>T (p.Asp2829Tyr) c.8038G>T (p.Asp2680Tyr) c.7375G>T (p.Asp2459Tyr) c.11890G>T (p.Asp3964Tyr) | |
| 5 | g.13708173C>G | CA359196672 | DNAH5 | n.621G>C c.13288G>C (p.Asp4430His) c.13243G>C (p.Asp4415His) c.13396G>C (p.Asp4466His) c.12976G>C (p.Asp4326His) c.12301G>C (p.Asp4101His) c.8485G>C (p.Asp2829His) c.8038G>C (p.Asp2680His) c.7375G>C (p.Asp2459His) c.11890G>C (p.Asp3964His) | |
| 5 | g.13708173C>T | CA359196675 | DNAH5 | n.621G>A c.13288G>A (p.Asp4430Asn) c.13243G>A (p.Asp4415Asn) c.13396G>A (p.Asp4466Asn) c.12976G>A (p.Asp4326Asn) c.12301G>A (p.Asp4101Asn) c.8485G>A (p.Asp2829Asn) c.8038G>A (p.Asp2680Asn) c.7375G>A (p.Asp2459Asn) c.11890G>A (p.Asp3964Asn) | |
| 5 | g.13708174T>A | CA443251082 | DNAH5 | n.620A>T c.13287A>T (p.Arg4429=) c.13242A>T (p.Arg4414=) c.13395A>T (p.Arg4465=) c.12975A>T (p.Arg4325=) c.12300A>T (p.Arg4100=) c.8484A>T (p.Arg2828=) c.8037A>T (p.Arg2679=) c.7374A>T (p.Arg2458=) c.11889A>T (p.Arg3963=) | |
| 5 | g.13708174T>C | CA443251084 | DNAH5 | n.620A>G c.13287A>G (p.Arg4429=) c.13242A>G (p.Arg4414=) c.13395A>G (p.Arg4465=) c.12975A>G (p.Arg4325=) c.12300A>G (p.Arg4100=) c.8484A>G (p.Arg2828=) c.8037A>G (p.Arg2679=) c.7374A>G (p.Arg2458=) c.11889A>G (p.Arg3963=) | |
| 5 | g.13708174T>G | CA443251083 | DNAH5 | n.620A>C c.13287A>C (p.Arg4429=) c.13242A>C (p.Arg4414=) c.13395A>C (p.Arg4465=) c.12975A>C (p.Arg4325=) c.12300A>C (p.Arg4100=) c.8484A>C (p.Arg2828=) c.8037A>C (p.Arg2679=) c.7374A>C (p.Arg2458=) c.11889A>C (p.Arg3963=) | |
| 5 | g.13708175C>A | CA359196678 | DNAH5 | n.619G>T c.13286G>T (p.Arg4429Leu) c.13241G>T (p.Arg4414Leu) c.13394G>T (p.Arg4465Leu) c.12974G>T (p.Arg4325Leu) c.12299G>T (p.Arg4100Leu) c.8483G>T (p.Arg2828Leu) c.8036G>T (p.Arg2679Leu) c.7373G>T (p.Arg2458Leu) c.11888G>T (p.Arg3963Leu) | |
| 5 | g.13708175C= | CA1528403749 | DNAH5 | n.619G= c.13286G= (p.Arg4429=) c.13241G= (p.Arg4414=) c.13394G= (p.Arg4465=) c.12974G= (p.Arg4325=) c.12299G= (p.Arg4100=) c.8483G= (p.Arg2828=) c.8036G= (p.Arg2679=) c.7373G= (p.Arg2458=) c.11888G= (p.Arg3963=) | |
| 5 | g.13708175C>G | CA359196681 | DNAH5 | n.619G>C c.13286G>C (p.Arg4429Pro) c.13241G>C (p.Arg4414Pro) c.13394G>C (p.Arg4465Pro) c.12974G>C (p.Arg4325Pro) c.12299G>C (p.Arg4100Pro) c.8483G>C (p.Arg2828Pro) c.8036G>C (p.Arg2679Pro) c.7373G>C (p.Arg2458Pro) c.11888G>C (p.Arg3963Pro) | |
| 5 | g.13708175C>T | CA3201405 | DNAH5 | n.619G>A c.13286G>A (p.Arg4429Gln) c.13241G>A (p.Arg4414Gln) c.13394G>A (p.Arg4465Gln) c.12974G>A (p.Arg4325Gln) c.12299G>A (p.Arg4100Gln) c.8483G>A (p.Arg2828Gln) c.8036G>A (p.Arg2679Gln) c.7373G>A (p.Arg2458Gln) c.11888G>A (p.Arg3963Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708176G>A | CA359196686 | DNAH5 | n.618C>T c.13285C>T (p.Arg4429Ter) c.13240C>T (p.Arg4414Ter) c.13393C>T (p.Arg4465Ter) c.12973C>T (p.Arg4325Ter) c.12298C>T (p.Arg4100Ter) c.8482C>T (p.Arg2828Ter) c.8035C>T (p.Arg2679Ter) c.7372C>T (p.Arg2458Ter) c.11887C>T (p.Arg3963Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.13708176G>C | CA359196689 | DNAH5 | n.618C>G c.13285C>G (p.Arg4429Gly) c.13240C>G (p.Arg4414Gly) c.13393C>G (p.Arg4465Gly) c.12973C>G (p.Arg4325Gly) c.12298C>G (p.Arg4100Gly) c.8482C>G (p.Arg2828Gly) c.8035C>G (p.Arg2679Gly) c.7372C>G (p.Arg2458Gly) c.11887C>G (p.Arg3963Gly) | |
| 5 | g.13708176G= | CA1528403750 | DNAH5 | n.618C= c.13285C= (p.Arg4429=) c.13240C= (p.Arg4414=) c.13393C= (p.Arg4465=) c.12973C= (p.Arg4325=) c.12298C= (p.Arg4100=) c.8482C= (p.Arg2828=) c.8035C= (p.Arg2679=) c.7372C= (p.Arg2458=) c.11887C= (p.Arg3963=) | |
| 5 | g.13708176G>T | CA443251085 | DNAH5 | n.618C>A c.13285C>A (p.Arg4429=) c.13240C>A (p.Arg4414=) c.13393C>A (p.Arg4465=) c.12973C>A (p.Arg4325=) c.12298C>A (p.Arg4100=) c.8482C>A (p.Arg2828=) c.8035C>A (p.Arg2679=) c.7372C>A (p.Arg2458=) c.11887C>A (p.Arg3963=) | |
| 5 | g.13708177C>A | CA443251086 | DNAH5 | n.617G>T c.13284G>T (p.Leu4428=) c.13239G>T (p.Leu4413=) c.13392G>T (p.Leu4464=) c.12972G>T (p.Leu4324=) c.12297G>T (p.Leu4099=) c.8481G>T (p.Leu2827=) c.8034G>T (p.Leu2678=) c.7371G>T (p.Leu2457=) c.11886G>T (p.Leu3962=) | |
| 5 | g.13708177C>G | CA443251087 | DNAH5 | n.617G>C c.13284G>C (p.Leu4428=) c.13239G>C (p.Leu4413=) c.13392G>C (p.Leu4464=) c.12972G>C (p.Leu4324=) c.12297G>C (p.Leu4099=) c.8481G>C (p.Leu2827=) c.8034G>C (p.Leu2678=) c.7371G>C (p.Leu2457=) c.11886G>C (p.Leu3962=) | |
| 5 | g.13708177C>T | CA443251088 | DNAH5 | n.617G>A c.13284G>A (p.Leu4428=) c.13239G>A (p.Leu4413=) c.13392G>A (p.Leu4464=) c.12972G>A (p.Leu4324=) c.12297G>A (p.Leu4099=) c.8481G>A (p.Leu2827=) c.8034G>A (p.Leu2678=) c.7371G>A (p.Leu2457=) c.11886G>A (p.Leu3962=) | |
| 5 | g.13708178A>C | CA359196709 | DNAH5 | n.616T>G c.13283T>G (p.Leu4428Arg) c.13238T>G (p.Leu4413Arg) c.13391T>G (p.Leu4464Arg) c.12971T>G (p.Leu4324Arg) c.12296T>G (p.Leu4099Arg) c.8480T>G (p.Leu2827Arg) c.8033T>G (p.Leu2678Arg) c.7370T>G (p.Leu2457Arg) c.11885T>G (p.Leu3962Arg) | |
| 5 | g.13708178A>G | CA359196706 | DNAH5 | n.616T>C c.13283T>C (p.Leu4428Pro) c.13238T>C (p.Leu4413Pro) c.13391T>C (p.Leu4464Pro) c.12971T>C (p.Leu4324Pro) c.12296T>C (p.Leu4099Pro) c.8480T>C (p.Leu2827Pro) c.8033T>C (p.Leu2678Pro) c.7370T>C (p.Leu2457Pro) c.11885T>C (p.Leu3962Pro) | |
| 5 | g.13708178A>T | CA359196703 | DNAH5 | n.616T>A c.13283T>A (p.Leu4428Gln) c.13238T>A (p.Leu4413Gln) c.13391T>A (p.Leu4464Gln) c.12971T>A (p.Leu4324Gln) c.12296T>A (p.Leu4099Gln) c.8480T>A (p.Leu2827Gln) c.8033T>A (p.Leu2678Gln) c.7370T>A (p.Leu2457Gln) c.11885T>A (p.Leu3962Gln) | |
| 5 | g.13708179G>A | CA443251089 | DNAH5 | n.615C>T c.13282C>T (p.Leu4428=) c.13237C>T (p.Leu4413=) c.13390C>T (p.Leu4464=) c.12970C>T (p.Leu4324=) c.12295C>T (p.Leu4099=) c.8479C>T (p.Leu2827=) c.8032C>T (p.Leu2678=) c.7369C>T (p.Leu2457=) c.11884C>T (p.Leu3962=) | COSMIC |
| 5 | g.13708179G>C | CA359196711 | DNAH5 | n.615C>G c.13282C>G (p.Leu4428Val) c.13237C>G (p.Leu4413Val) c.13390C>G (p.Leu4464Val) c.12970C>G (p.Leu4324Val) c.12295C>G (p.Leu4099Val) c.8479C>G (p.Leu2827Val) c.8032C>G (p.Leu2678Val) c.7369C>G (p.Leu2457Val) c.11884C>G (p.Leu3962Val) | |
| 5 | g.13708179G>T | CA359196713 | DNAH5 | n.615C>A c.13282C>A (p.Leu4428Met) c.13237C>A (p.Leu4413Met) c.13390C>A (p.Leu4464Met) c.12970C>A (p.Leu4324Met) c.12295C>A (p.Leu4099Met) c.8479C>A (p.Leu2827Met) c.8032C>A (p.Leu2678Met) c.7369C>A (p.Leu2457Met) c.11884C>A (p.Leu3962Met) | |
| 5 | g.13708180A>C | CA359196717 | DNAH5 | n.614T>G c.13281T>G (p.Asn4427Lys) c.13236T>G (p.Asn4412Lys) c.13389T>G (p.Asn4463Lys) c.12969T>G (p.Asn4323Lys) c.12294T>G (p.Asn4098Lys) c.8478T>G (p.Asn2826Lys) c.8031T>G (p.Asn2677Lys) c.7368T>G (p.Asn2456Lys) c.11883T>G (p.Asn3961Lys) | |
| 5 | g.13708180A>G | CA443251091 | DNAH5 | n.614T>C c.13281T>C (p.Asn4427=) c.13236T>C (p.Asn4412=) c.13389T>C (p.Asn4463=) c.12969T>C (p.Asn4323=) c.12294T>C (p.Asn4098=) c.8478T>C (p.Asn2826=) c.8031T>C (p.Asn2677=) c.7368T>C (p.Asn2456=) c.11883T>C (p.Asn3961=) | |
| 5 | g.13708180A>T | CA359196720 | DNAH5 | n.614T>A c.13281T>A (p.Asn4427Lys) c.13236T>A (p.Asn4412Lys) c.13389T>A (p.Asn4463Lys) c.12969T>A (p.Asn4323Lys) c.12294T>A (p.Asn4098Lys) c.8478T>A (p.Asn2826Lys) c.8031T>A (p.Asn2677Lys) c.7368T>A (p.Asn2456Lys) c.11883T>A (p.Asn3961Lys) | |
| 5 | g.13708181T>A | CA359196724 | DNAH5 | n.613A>T c.13280A>T (p.Asn4427Ile) c.13235A>T (p.Asn4412Ile) c.13388A>T (p.Asn4463Ile) c.12968A>T (p.Asn4323Ile) c.12293A>T (p.Asn4098Ile) c.8477A>T (p.Asn2826Ile) c.8030A>T (p.Asn2677Ile) c.7367A>T (p.Asn2456Ile) c.11882A>T (p.Asn3961Ile) | |
| 5 | g.13708181T>C | CA359196728 | DNAH5 | n.613A>G c.13280A>G (p.Asn4427Ser) c.13235A>G (p.Asn4412Ser) c.13388A>G (p.Asn4463Ser) c.12968A>G (p.Asn4323Ser) c.12293A>G (p.Asn4098Ser) c.8477A>G (p.Asn2826Ser) c.8030A>G (p.Asn2677Ser) c.7367A>G (p.Asn2456Ser) c.11882A>G (p.Asn3961Ser) | |
| 5 | g.13708181T>G | CA359196731 | DNAH5 | n.613A>C c.13280A>C (p.Asn4427Thr) c.13235A>C (p.Asn4412Thr) c.13388A>C (p.Asn4463Thr) c.12968A>C (p.Asn4323Thr) c.12293A>C (p.Asn4098Thr) c.8477A>C (p.Asn2826Thr) c.8030A>C (p.Asn2677Thr) c.7367A>C (p.Asn2456Thr) c.11882A>C (p.Asn3961Thr) | |
| 5 | g.13708182T>A | CA359196739 | DNAH5 | n.612A>T c.13279A>T (p.Asn4427Tyr) c.13234A>T (p.Asn4412Tyr) c.13387A>T (p.Asn4463Tyr) c.12967A>T (p.Asn4323Tyr) c.12292A>T (p.Asn4098Tyr) c.8476A>T (p.Asn2826Tyr) c.8029A>T (p.Asn2677Tyr) c.7366A>T (p.Asn2456Tyr) c.11881A>T (p.Asn3961Tyr) | |
| 5 | g.13708182T>C | CA359196735 | DNAH5 | n.612A>G c.13279A>G (p.Asn4427Asp) c.13234A>G (p.Asn4412Asp) c.13387A>G (p.Asn4463Asp) c.12967A>G (p.Asn4323Asp) c.12292A>G (p.Asn4098Asp) c.8476A>G (p.Asn2826Asp) c.8029A>G (p.Asn2677Asp) c.7366A>G (p.Asn2456Asp) c.11881A>G (p.Asn3961Asp) | |
| 5 | g.13708182T>G | CA359196736 | DNAH5 | n.612A>C c.13279A>C (p.Asn4427His) c.13234A>C (p.Asn4412His) c.13387A>C (p.Asn4463His) c.12967A>C (p.Asn4323His) c.12292A>C (p.Asn4098His) c.8476A>C (p.Asn2826His) c.8029A>C (p.Asn2677His) c.7366A>C (p.Asn2456His) c.11881A>C (p.Asn3961His) | |
| 5 | g.13708183T>A | CA359196742 | DNAH5 | n.611A>T c.13278A>T (p.Glu4426Asp) c.13233A>T (p.Glu4411Asp) c.13386A>T (p.Glu4462Asp) c.12966A>T (p.Glu4322Asp) c.12291A>T (p.Glu4097Asp) c.8475A>T (p.Glu2825Asp) c.8028A>T (p.Glu2676Asp) c.7365A>T (p.Glu2455Asp) c.11880A>T (p.Glu3960Asp) | |
| 5 | g.13708183T>C | CA443251092 | DNAH5 | n.611A>G c.13278A>G (p.Glu4426=) c.13233A>G (p.Glu4411=) c.13386A>G (p.Glu4462=) c.12966A>G (p.Glu4322=) c.12291A>G (p.Glu4097=) c.8475A>G (p.Glu2825=) c.8028A>G (p.Glu2676=) c.7365A>G (p.Glu2455=) c.11880A>G (p.Glu3960=) | |
| 5 | g.13708183T>G | CA359196745 | DNAH5 | n.611A>C c.13278A>C (p.Glu4426Asp) c.13233A>C (p.Glu4411Asp) c.13386A>C (p.Glu4462Asp) c.12966A>C (p.Glu4322Asp) c.12291A>C (p.Glu4097Asp) c.8475A>C (p.Glu2825Asp) c.8028A>C (p.Glu2676Asp) c.7365A>C (p.Glu2455Asp) c.11880A>C (p.Glu3960Asp) | |
| 5 | g.13708184T>A | CA359196750 | DNAH5 | n.610A>T c.13277A>T (p.Glu4426Val) c.13232A>T (p.Glu4411Val) c.13385A>T (p.Glu4462Val) c.12965A>T (p.Glu4322Val) c.12290A>T (p.Glu4097Val) c.8474A>T (p.Glu2825Val) c.8027A>T (p.Glu2676Val) c.7364A>T (p.Glu2455Val) c.11879A>T (p.Glu3960Val) | |
| 5 | g.13708184T>C | CA359196752 | DNAH5 | n.610A>G c.13277A>G (p.Glu4426Gly) c.13232A>G (p.Glu4411Gly) c.13385A>G (p.Glu4462Gly) c.12965A>G (p.Glu4322Gly) c.12290A>G (p.Glu4097Gly) c.8474A>G (p.Glu2825Gly) c.8027A>G (p.Glu2676Gly) c.7364A>G (p.Glu2455Gly) c.11879A>G (p.Glu3960Gly) | |
| 5 | g.13708184T>G | CA359196757 | DNAH5 | n.610A>C c.13277A>C (p.Glu4426Ala) c.13232A>C (p.Glu4411Ala) c.13385A>C (p.Glu4462Ala) c.12965A>C (p.Glu4322Ala) c.12290A>C (p.Glu4097Ala) c.8474A>C (p.Glu2825Ala) c.8027A>C (p.Glu2676Ala) c.7364A>C (p.Glu2455Ala) c.11879A>C (p.Glu3960Ala) | |
| 5 | g.13708185C>A | CA359196764 | DNAH5 | n.609G>T c.13276G>T (p.Glu4426Ter) c.13231G>T (p.Glu4411Ter) c.13384G>T (p.Glu4462Ter) c.12964G>T (p.Glu4322Ter) c.12289G>T (p.Glu4097Ter) c.8473G>T (p.Glu2825Ter) c.8026G>T (p.Glu2676Ter) c.7363G>T (p.Glu2455Ter) c.11878G>T (p.Glu3960Ter) | |
| 5 | g.13708185C= | CA1528403751 | DNAH5 | n.609G= c.13276G= (p.Glu4426=) c.13231G= (p.Glu4411=) c.13384G= (p.Glu4462=) c.12964G= (p.Glu4322=) c.12289G= (p.Glu4097=) c.8473G= (p.Glu2825=) c.8026G= (p.Glu2676=) c.7363G= (p.Glu2455=) c.11878G= (p.Glu3960=) | |
| 5 | g.13708185C>G | CA359196779 | DNAH5 | n.609G>C c.13276G>C (p.Glu4426Gln) c.13231G>C (p.Glu4411Gln) c.13384G>C (p.Glu4462Gln) c.12964G>C (p.Glu4322Gln) c.12289G>C (p.Glu4097Gln) c.8473G>C (p.Glu2825Gln) c.8026G>C (p.Glu2676Gln) c.7363G>C (p.Glu2455Gln) c.11878G>C (p.Glu3960Gln) | |
| 5 | g.13708185C>T | CA3201406 | DNAH5 | n.609G>A c.13276G>A (p.Glu4426Lys) c.13231G>A (p.Glu4411Lys) c.13384G>A (p.Glu4462Lys) c.12964G>A (p.Glu4322Lys) c.12289G>A (p.Glu4097Lys) c.8473G>A (p.Glu2825Lys) c.8026G>A (p.Glu2676Lys) c.7363G>A (p.Glu2455Lys) c.11878G>A (p.Glu3960Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13708186G>A | CA3201407 | DNAH5 | n.608C>T c.13275C>T (p.Ser4425=) c.13230C>T (p.Ser4410=) c.13383C>T (p.Ser4461=) c.12963C>T (p.Ser4321=) c.12288C>T (p.Ser4096=) c.8472C>T (p.Ser2824=) c.8025C>T (p.Ser2675=) c.7362C>T (p.Ser2454=) c.11877C>T (p.Ser3959=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13708186G>C | CA359196793 | DNAH5 | n.608C>G c.13275C>G (p.Ser4425Arg) c.13230C>G (p.Ser4410Arg) c.13383C>G (p.Ser4461Arg) c.12963C>G (p.Ser4321Arg) c.12288C>G (p.Ser4096Arg) c.8472C>G (p.Ser2824Arg) c.8025C>G (p.Ser2675Arg) c.7362C>G (p.Ser2454Arg) c.11877C>G (p.Ser3959Arg) | |
| 5 | g.13708186G= | CA1528403752 | DNAH5 | n.608C= c.13275C= (p.Ser4425=) c.13230C= (p.Ser4410=) c.13383C= (p.Ser4461=) c.12963C= (p.Ser4321=) c.12288C= (p.Ser4096=) c.8472C= (p.Ser2824=) c.8025C= (p.Ser2675=) c.7362C= (p.Ser2454=) c.11877C= (p.Ser3959=) | |
| 5 | g.13708186G>T | CA359196795 | DNAH5 | n.608C>A c.13275C>A (p.Ser4425Arg) c.13230C>A (p.Ser4410Arg) c.13383C>A (p.Ser4461Arg) c.12963C>A (p.Ser4321Arg) c.12288C>A (p.Ser4096Arg) c.8472C>A (p.Ser2824Arg) c.8025C>A (p.Ser2675Arg) c.7362C>A (p.Ser2454Arg) c.11877C>A (p.Ser3959Arg) | COSMIC |
| 5 | g.13708187C>A | CA359196800 | DNAH5 | n.607G>T c.13274G>T (p.Ser4425Ile) c.13229G>T (p.Ser4410Ile) c.13382G>T (p.Ser4461Ile) c.12962G>T (p.Ser4321Ile) c.12287G>T (p.Ser4096Ile) c.8471G>T (p.Ser2824Ile) c.8024G>T (p.Ser2675Ile) c.7361G>T (p.Ser2454Ile) c.11876G>T (p.Ser3959Ile) | |
| 5 | g.13708187C>G | CA359196810 | DNAH5 | n.607G>C c.13274G>C (p.Ser4425Thr) c.13229G>C (p.Ser4410Thr) c.13382G>C (p.Ser4461Thr) c.12962G>C (p.Ser4321Thr) c.12287G>C (p.Ser4096Thr) c.8471G>C (p.Ser2824Thr) c.8024G>C (p.Ser2675Thr) c.7361G>C (p.Ser2454Thr) c.11876G>C (p.Ser3959Thr) | |
| 5 | g.13708187C>T | CA359196813 | DNAH5 | n.607G>A c.13274G>A (p.Ser4425Asn) c.13229G>A (p.Ser4410Asn) c.13382G>A (p.Ser4461Asn) c.12962G>A (p.Ser4321Asn) c.12287G>A (p.Ser4096Asn) c.8471G>A (p.Ser2824Asn) c.8024G>A (p.Ser2675Asn) c.7361G>A (p.Ser2454Asn) c.11876G>A (p.Ser3959Asn) | gnomAD v4 |
| 5 | g.13708188T>A | CA359196817 | DNAH5 | n.606A>T c.13273A>T (p.Ser4425Cys) c.13228A>T (p.Ser4410Cys) c.13381A>T (p.Ser4461Cys) c.12961A>T (p.Ser4321Cys) c.12286A>T (p.Ser4096Cys) c.8470A>T (p.Ser2824Cys) c.8023A>T (p.Ser2675Cys) c.7360A>T (p.Ser2454Cys) c.11875A>T (p.Ser3959Cys) | |
| 5 | g.13708188T>C | CA359196821 | DNAH5 | n.606A>G c.13273A>G (p.Ser4425Gly) c.13228A>G (p.Ser4410Gly) c.13381A>G (p.Ser4461Gly) c.12961A>G (p.Ser4321Gly) c.12286A>G (p.Ser4096Gly) c.8470A>G (p.Ser2824Gly) c.8023A>G (p.Ser2675Gly) c.7360A>G (p.Ser2454Gly) c.11875A>G (p.Ser3959Gly) | |
| 5 | g.13708188T>G | CA359196822 | DNAH5 | n.606A>C c.13273A>C (p.Ser4425Arg) c.13228A>C (p.Ser4410Arg) c.13381A>C (p.Ser4461Arg) c.12961A>C (p.Ser4321Arg) c.12286A>C (p.Ser4096Arg) c.8470A>C (p.Ser2824Arg) c.8023A>C (p.Ser2675Arg) c.7360A>C (p.Ser2454Arg) c.11875A>C (p.Ser3959Arg) | |
| 5 | g.13708189C>A | CA359196828 | DNAH5 | n.605G>T c.13272G>T (p.Met4424Ile) c.13227G>T (p.Met4409Ile) c.13380G>T (p.Met4460Ile) c.12960G>T (p.Met4320Ile) c.12285G>T (p.Met4095Ile) c.8469G>T (p.Met2823Ile) c.8022G>T (p.Met2674Ile) c.7359G>T (p.Met2453Ile) c.11874G>T (p.Met3958Ile) | |
| 5 | g.13708189C>G | CA359196836 | DNAH5 | n.605G>C c.13272G>C (p.Met4424Ile) c.13227G>C (p.Met4409Ile) c.13380G>C (p.Met4460Ile) c.12960G>C (p.Met4320Ile) c.12285G>C (p.Met4095Ile) c.8469G>C (p.Met2823Ile) c.8022G>C (p.Met2674Ile) c.7359G>C (p.Met2453Ile) c.11874G>C (p.Met3958Ile) | |
| 5 | g.13708189C>T | CA359196841 | DNAH5 | n.605G>A c.13272G>A (p.Met4424Ile) c.13227G>A (p.Met4409Ile) c.13380G>A (p.Met4460Ile) c.12960G>A (p.Met4320Ile) c.12285G>A (p.Met4095Ile) c.8469G>A (p.Met2823Ile) c.8022G>A (p.Met2674Ile) c.7359G>A (p.Met2453Ile) c.11874G>A (p.Met3958Ile) | gnomAD v4 |
| 5 | g.13708190A= | CA1528403753 | DNAH5 | n.604T= c.13271T= (p.Met4424=) c.13226T= (p.Met4409=) c.13379T= (p.Met4460=) c.12959T= (p.Met4320=) c.12284T= (p.Met4095=) c.8468T= (p.Met2823=) c.8021T= (p.Met2674=) c.7358T= (p.Met2453=) c.11873T= (p.Met3958=) | |
| 5 | g.13708190A>C | CA359196853 | DNAH5 | n.604T>G c.13271T>G (p.Met4424Arg) c.13226T>G (p.Met4409Arg) c.13379T>G (p.Met4460Arg) c.12959T>G (p.Met4320Arg) c.12284T>G (p.Met4095Arg) c.8468T>G (p.Met2823Arg) c.8021T>G (p.Met2674Arg) c.7358T>G (p.Met2453Arg) c.11873T>G (p.Met3958Arg) | |
| 5 | g.13708190A>G | CA359196845 | DNAH5 | n.604T>C c.13271T>C (p.Met4424Thr) c.13226T>C (p.Met4409Thr) c.13379T>C (p.Met4460Thr) c.12959T>C (p.Met4320Thr) c.12284T>C (p.Met4095Thr) c.8468T>C (p.Met2823Thr) c.8021T>C (p.Met2674Thr) c.7358T>C (p.Met2453Thr) c.11873T>C (p.Met3958Thr) | gnomAD v4 |
| 5 | g.13708190A>T | CA359196849 | DNAH5 | n.604T>A c.13271T>A (p.Met4424Lys) c.13226T>A (p.Met4409Lys) c.13379T>A (p.Met4460Lys) c.12959T>A (p.Met4320Lys) c.12284T>A (p.Met4095Lys) c.8468T>A (p.Met2823Lys) c.8021T>A (p.Met2674Lys) c.7358T>A (p.Met2453Lys) c.11873T>A (p.Met3958Lys) | dbSNP gnomAD v4 |
| 5 | g.13708191T>A | CA359196854 | DNAH5 | n.603A>T c.13270A>T (p.Met4424Leu) c.13225A>T (p.Met4409Leu) c.13378A>T (p.Met4460Leu) c.12958A>T (p.Met4320Leu) c.12283A>T (p.Met4095Leu) c.8467A>T (p.Met2823Leu) c.8020A>T (p.Met2674Leu) c.7357A>T (p.Met2453Leu) c.11872A>T (p.Met3958Leu) | |
| 5 | g.13708191T>C | CA359196855 | DNAH5 | n.603A>G c.13270A>G (p.Met4424Val) c.13225A>G (p.Met4409Val) c.13378A>G (p.Met4460Val) c.12958A>G (p.Met4320Val) c.12283A>G (p.Met4095Val) c.8467A>G (p.Met2823Val) c.8020A>G (p.Met2674Val) c.7357A>G (p.Met2453Val) c.11872A>G (p.Met3958Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13708191T>G | CA359196856 | DNAH5 | n.603A>C c.13270A>C (p.Met4424Leu) c.13225A>C (p.Met4409Leu) c.13378A>C (p.Met4460Leu) c.12958A>C (p.Met4320Leu) c.12283A>C (p.Met4095Leu) c.8467A>C (p.Met2823Leu) c.8020A>C (p.Met2674Leu) c.7357A>C (p.Met2453Leu) c.11872A>C (p.Met3958Leu) | |
| 5 | g.13708191T= | CA1528403754 | DNAH5 | n.603A= c.13270A= (p.Met4424=) c.13225A= (p.Met4409=) c.13378A= (p.Met4460=) c.12958A= (p.Met4320=) c.12283A= (p.Met4095=) c.8467A= (p.Met2823=) c.8020A= (p.Met2674=) c.7357A= (p.Met2453=) c.11872A= (p.Met3958=) | |
| 5 | g.13708192G>A | CA3201408 | DNAH5 | n.602C>T c.13269C>T (p.Ile4423=) c.13224C>T (p.Ile4408=) c.13377C>T (p.Ile4459=) c.12957C>T (p.Ile4319=) c.12282C>T (p.Ile4094=) c.8466C>T (p.Ile2822=) c.8019C>T (p.Ile2673=) c.7356C>T (p.Ile2452=) c.11871C>T (p.Ile3957=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13708192G>C | CA359196860 | DNAH5 | n.602C>G c.13269C>G (p.Ile4423Met) c.13224C>G (p.Ile4408Met) c.13377C>G (p.Ile4459Met) c.12957C>G (p.Ile4319Met) c.12282C>G (p.Ile4094Met) c.8466C>G (p.Ile2822Met) c.8019C>G (p.Ile2673Met) c.7356C>G (p.Ile2452Met) c.11871C>G (p.Ile3957Met) | ClinVar gnomAD v4 |
| 5 | g.13708192G= | CA1528403755 | DNAH5 | n.602C= c.13269C= (p.Ile4423=) c.13224C= (p.Ile4408=) c.13377C= (p.Ile4459=) c.12957C= (p.Ile4319=) c.12282C= (p.Ile4094=) c.8466C= (p.Ile2822=) c.8019C= (p.Ile2673=) c.7356C= (p.Ile2452=) c.11871C= (p.Ile3957=) | |
| 5 | g.13708192G>T | CA443251096 | DNAH5 | n.602C>A c.13269C>A (p.Ile4423=) c.13224C>A (p.Ile4408=) c.13377C>A (p.Ile4459=) c.12957C>A (p.Ile4319=) c.12282C>A (p.Ile4094=) c.8466C>A (p.Ile2822=) c.8019C>A (p.Ile2673=) c.7356C>A (p.Ile2452=) c.11871C>A (p.Ile3957=) | |
| 5 | g.13708193A>C | CA359196863 | DNAH5 | n.601T>G c.13268T>G (p.Ile4423Ser) c.13223T>G (p.Ile4408Ser) c.13376T>G (p.Ile4459Ser) c.12956T>G (p.Ile4319Ser) c.12281T>G (p.Ile4094Ser) c.8465T>G (p.Ile2822Ser) c.8018T>G (p.Ile2673Ser) c.7355T>G (p.Ile2452Ser) c.11870T>G (p.Ile3957Ser) | |
| 5 | g.13708193A>G | CA359196867 | DNAH5 | n.601T>C c.13268T>C (p.Ile4423Thr) c.13223T>C (p.Ile4408Thr) c.13376T>C (p.Ile4459Thr) c.12956T>C (p.Ile4319Thr) c.12281T>C (p.Ile4094Thr) c.8465T>C (p.Ile2822Thr) c.8018T>C (p.Ile2673Thr) c.7355T>C (p.Ile2452Thr) c.11870T>C (p.Ile3957Thr) | |
| 5 | g.13708193A>T | CA359196870 | DNAH5 | n.601T>A c.13268T>A (p.Ile4423Asn) c.13223T>A (p.Ile4408Asn) c.13376T>A (p.Ile4459Asn) c.12956T>A (p.Ile4319Asn) c.12281T>A (p.Ile4094Asn) c.8465T>A (p.Ile2822Asn) c.8018T>A (p.Ile2673Asn) c.7355T>A (p.Ile2452Asn) c.11870T>A (p.Ile3957Asn) | |
| 5 | g.13708194T>A | CA359196875 | DNAH5 | n.600A>T c.13267A>T (p.Ile4423Phe) c.13222A>T (p.Ile4408Phe) c.13375A>T (p.Ile4459Phe) c.12955A>T (p.Ile4319Phe) c.12280A>T (p.Ile4094Phe) c.8464A>T (p.Ile2822Phe) c.8017A>T (p.Ile2673Phe) c.7354A>T (p.Ile2452Phe) c.11869A>T (p.Ile3957Phe) | |
| 5 | g.13708194T>C | CA359196881 | DNAH5 | n.600A>G c.13267A>G (p.Ile4423Val) c.13222A>G (p.Ile4408Val) c.13375A>G (p.Ile4459Val) c.12955A>G (p.Ile4319Val) c.12280A>G (p.Ile4094Val) c.8464A>G (p.Ile2822Val) c.8017A>G (p.Ile2673Val) c.7354A>G (p.Ile2452Val) c.11869A>G (p.Ile3957Val) | |
| 5 | g.13708194T>G | CA3201409 | DNAH5 | n.600A>C c.13267A>C (p.Ile4423Leu) c.13222A>C (p.Ile4408Leu) c.13375A>C (p.Ile4459Leu) c.12955A>C (p.Ile4319Leu) c.12280A>C (p.Ile4094Leu) c.8464A>C (p.Ile2822Leu) c.8017A>C (p.Ile2673Leu) c.7354A>C (p.Ile2452Leu) c.11869A>C (p.Ile3957Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708194T= | CA1528403756 | DNAH5 | n.600A= c.13267A= (p.Ile4423=) c.13222A= (p.Ile4408=) c.13375A= (p.Ile4459=) c.12955A= (p.Ile4319=) c.12280A= (p.Ile4094=) c.8464A= (p.Ile2822=) c.8017A= (p.Ile2673=) c.7354A= (p.Ile2452=) c.11869A= (p.Ile3957=) | |
| 5 | g.13708195G>A | CA443251099 | DNAH5 | n.599C>T c.13266C>T (p.Ile4422=) c.13221C>T (p.Ile4407=) c.13374C>T (p.Ile4458=) c.12954C>T (p.Ile4318=) c.12279C>T (p.Ile4093=) c.8463C>T (p.Ile2821=) c.8016C>T (p.Ile2672=) c.7353C>T (p.Ile2451=) c.11868C>T (p.Ile3956=) | ClinVar |
| 5 | g.13708195G>C | CA359196882 | DNAH5 | n.599C>G c.13266C>G (p.Ile4422Met) c.13221C>G (p.Ile4407Met) c.13374C>G (p.Ile4458Met) c.12954C>G (p.Ile4318Met) c.12279C>G (p.Ile4093Met) c.8463C>G (p.Ile2821Met) c.8016C>G (p.Ile2672Met) c.7353C>G (p.Ile2451Met) c.11868C>G (p.Ile3956Met) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13708195G= | CA1528403757 | DNAH5 | n.599C= c.13266C= (p.Ile4422=) c.13221C= (p.Ile4407=) c.13374C= (p.Ile4458=) c.12954C= (p.Ile4318=) c.12279C= (p.Ile4093=) c.8463C= (p.Ile2821=) c.8016C= (p.Ile2672=) c.7353C= (p.Ile2451=) c.11868C= (p.Ile3956=) | |
| 5 | g.13708195G>T | CA443251098 | DNAH5 | n.599C>A c.13266C>A (p.Ile4422=) c.13221C>A (p.Ile4407=) c.13374C>A (p.Ile4458=) c.12954C>A (p.Ile4318=) c.12279C>A (p.Ile4093=) c.8463C>A (p.Ile2821=) c.8016C>A (p.Ile2672=) c.7353C>A (p.Ile2451=) c.11868C>A (p.Ile3956=) | |
| 5 | g.13708196A= | CA1528403758 | DNAH5 | n.598T= c.13265T= (p.Ile4422=) c.13220T= (p.Ile4407=) c.13373T= (p.Ile4458=) c.12953T= (p.Ile4318=) c.12278T= (p.Ile4093=) c.8462T= (p.Ile2821=) c.8015T= (p.Ile2672=) c.7352T= (p.Ile2451=) c.11867T= (p.Ile3956=) | |
| 5 | g.13708196A>C | CA359196885 | DNAH5 | n.598T>G c.13265T>G (p.Ile4422Ser) c.13220T>G (p.Ile4407Ser) c.13373T>G (p.Ile4458Ser) c.12953T>G (p.Ile4318Ser) c.12278T>G (p.Ile4093Ser) c.8462T>G (p.Ile2821Ser) c.8015T>G (p.Ile2672Ser) c.7352T>G (p.Ile2451Ser) c.11867T>G (p.Ile3956Ser) | |
| 5 | g.13708196A>G | CA3201410 | DNAH5 | n.598T>C c.13265T>C (p.Ile4422Thr) c.13220T>C (p.Ile4407Thr) c.13373T>C (p.Ile4458Thr) c.12953T>C (p.Ile4318Thr) c.12278T>C (p.Ile4093Thr) c.8462T>C (p.Ile2821Thr) c.8015T>C (p.Ile2672Thr) c.7352T>C (p.Ile2451Thr) c.11867T>C (p.Ile3956Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13708196A>T | CA359196884 | DNAH5 | n.598T>A c.13265T>A (p.Ile4422Asn) c.13220T>A (p.Ile4407Asn) c.13373T>A (p.Ile4458Asn) c.12953T>A (p.Ile4318Asn) c.12278T>A (p.Ile4093Asn) c.8462T>A (p.Ile2821Asn) c.8015T>A (p.Ile2672Asn) c.7352T>A (p.Ile2451Asn) c.11867T>A (p.Ile3956Asn) | |
| 5 | g.13708197T>A | CA359196888 | DNAH5 | n.597A>T c.13264A>T (p.Ile4422Phe) c.13219A>T (p.Ile4407Phe) c.13372A>T (p.Ile4458Phe) c.12952A>T (p.Ile4318Phe) c.12277A>T (p.Ile4093Phe) c.8461A>T (p.Ile2821Phe) c.8014A>T (p.Ile2672Phe) c.7351A>T (p.Ile2451Phe) c.11866A>T (p.Ile3956Phe) | |
| 5 | g.13708197T>C | CA359196890 | DNAH5 | n.597A>G c.13264A>G (p.Ile4422Val) c.13219A>G (p.Ile4407Val) c.13372A>G (p.Ile4458Val) c.12952A>G (p.Ile4318Val) c.12277A>G (p.Ile4093Val) c.8461A>G (p.Ile2821Val) c.8014A>G (p.Ile2672Val) c.7351A>G (p.Ile2451Val) c.11866A>G (p.Ile3956Val) | dbSNP |
| 5 | g.13708197T>G | CA359196894 | DNAH5 | n.597A>C c.13264A>C (p.Ile4422Leu) c.13219A>C (p.Ile4407Leu) c.13372A>C (p.Ile4458Leu) c.12952A>C (p.Ile4318Leu) c.12277A>C (p.Ile4093Leu) c.8461A>C (p.Ile2821Leu) c.8014A>C (p.Ile2672Leu) c.7351A>C (p.Ile2451Leu) c.11866A>C (p.Ile3956Leu) | |
| 5 | g.13708197T= | CA1528403759 | DNAH5 | n.597A= c.13264A= (p.Ile4422=) c.13219A= (p.Ile4407=) c.13372A= (p.Ile4458=) c.12952A= (p.Ile4318=) c.12277A= (p.Ile4093=) c.8461A= (p.Ile2821=) c.8014A= (p.Ile2672=) c.7351A= (p.Ile2451=) c.11866A= (p.Ile3956=) | |
| 5 | g.13708198G>A | CA3201411 | DNAH5 | n.596C>T c.13263C>T (p.Thr4421=) c.13218C>T (p.Thr4406=) c.13371C>T (p.Thr4457=) c.12951C>T (p.Thr4317=) c.12276C>T (p.Thr4092=) c.8460C>T (p.Thr2820=) c.8013C>T (p.Thr2671=) c.7350C>T (p.Thr2450=) c.11865C>T (p.Thr3955=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708198G>C | CA443251103 | DNAH5 | n.596C>G c.13263C>G (p.Thr4421=) c.13218C>G (p.Thr4406=) c.13371C>G (p.Thr4457=) c.12951C>G (p.Thr4317=) c.12276C>G (p.Thr4092=) c.8460C>G (p.Thr2820=) c.8013C>G (p.Thr2671=) c.7350C>G (p.Thr2450=) c.11865C>G (p.Thr3955=) | |
| 5 | g.13708198G= | CA1528403760 | DNAH5 | n.596C= c.13263C= (p.Thr4421=) c.13218C= (p.Thr4406=) c.13371C= (p.Thr4457=) c.12951C= (p.Thr4317=) c.12276C= (p.Thr4092=) c.8460C= (p.Thr2820=) c.8013C= (p.Thr2671=) c.7350C= (p.Thr2450=) c.11865C= (p.Thr3955=) | |
| 5 | g.13708198G>T | CA443251104 | DNAH5 | n.596C>A c.13263C>A (p.Thr4421=) c.13218C>A (p.Thr4406=) c.13371C>A (p.Thr4457=) c.12951C>A (p.Thr4317=) c.12276C>A (p.Thr4092=) c.8460C>A (p.Thr2820=) c.8013C>A (p.Thr2671=) c.7350C>A (p.Thr2450=) c.11865C>A (p.Thr3955=) | |
| 5 | g.13708199G>A | CA359196904 | DNAH5 | n.595C>T c.13262C>T (p.Thr4421Ile) c.13217C>T (p.Thr4406Ile) c.13370C>T (p.Thr4457Ile) c.12950C>T (p.Thr4317Ile) c.12275C>T (p.Thr4092Ile) c.8459C>T (p.Thr2820Ile) c.8012C>T (p.Thr2671Ile) c.7349C>T (p.Thr2450Ile) c.11864C>T (p.Thr3955Ile) | dbSNP gnomAD v2 |
| 5 | g.13708199G>C | CA359196906 | DNAH5 | n.595C>G c.13262C>G (p.Thr4421Ser) c.13217C>G (p.Thr4406Ser) c.13370C>G (p.Thr4457Ser) c.12950C>G (p.Thr4317Ser) c.12275C>G (p.Thr4092Ser) c.8459C>G (p.Thr2820Ser) c.8012C>G (p.Thr2671Ser) c.7349C>G (p.Thr2450Ser) c.11864C>G (p.Thr3955Ser) | |
| 5 | g.13708199G= | CA1528403761 | DNAH5 | n.595C= c.13262C= (p.Thr4421=) c.13217C= (p.Thr4406=) c.13370C= (p.Thr4457=) c.12950C= (p.Thr4317=) c.12275C= (p.Thr4092=) c.8459C= (p.Thr2820=) c.8012C= (p.Thr2671=) c.7349C= (p.Thr2450=) c.11864C= (p.Thr3955=) | |
| 5 | g.13708199G>T | CA359196908 | DNAH5 | n.595C>A c.13262C>A (p.Thr4421Asn) c.13217C>A (p.Thr4406Asn) c.13370C>A (p.Thr4457Asn) c.12950C>A (p.Thr4317Asn) c.12275C>A (p.Thr4092Asn) c.8459C>A (p.Thr2820Asn) c.8012C>A (p.Thr2671Asn) c.7349C>A (p.Thr2450Asn) c.11864C>A (p.Thr3955Asn) | |
| 5 | g.13708200T>A | CA359196910 | DNAH5 | n.594A>T c.13261A>T (p.Thr4421Ser) c.13216A>T (p.Thr4406Ser) c.13369A>T (p.Thr4457Ser) c.12949A>T (p.Thr4317Ser) c.12274A>T (p.Thr4092Ser) c.8458A>T (p.Thr2820Ser) c.8011A>T (p.Thr2671Ser) c.7348A>T (p.Thr2450Ser) c.11863A>T (p.Thr3955Ser) | |
| 5 | g.13708200T>C | CA359196914 | DNAH5 | n.594A>G c.13261A>G (p.Thr4421Ala) c.13216A>G (p.Thr4406Ala) c.13369A>G (p.Thr4457Ala) c.12949A>G (p.Thr4317Ala) c.12274A>G (p.Thr4092Ala) c.8458A>G (p.Thr2820Ala) c.8011A>G (p.Thr2671Ala) c.7348A>G (p.Thr2450Ala) c.11863A>G (p.Thr3955Ala) | |
| 5 | g.13708200T>G | CA359196916 | DNAH5 | n.594A>C c.13261A>C (p.Thr4421Pro) c.13216A>C (p.Thr4406Pro) c.13369A>C (p.Thr4457Pro) c.12949A>C (p.Thr4317Pro) c.12274A>C (p.Thr4092Pro) c.8458A>C (p.Thr2820Pro) c.8011A>C (p.Thr2671Pro) c.7348A>C (p.Thr2450Pro) c.11863A>C (p.Thr3955Pro) | |
| 5 | g.13708201G>A | CA443251105 | DNAH5 | n.593C>T c.13260C>T (p.Gly4420=) c.13215C>T (p.Gly4405=) c.13368C>T (p.Gly4456=) c.12948C>T (p.Gly4316=) c.12273C>T (p.Gly4091=) c.8457C>T (p.Gly2819=) c.8010C>T (p.Gly2670=) c.7347C>T (p.Gly2449=) c.11862C>T (p.Gly3954=) | ClinVar |
| 5 | g.13708201G>C | CA443251108 | DNAH5 | n.593C>G c.13260C>G (p.Gly4420=) c.13215C>G (p.Gly4405=) c.13368C>G (p.Gly4456=) c.12948C>G (p.Gly4316=) c.12273C>G (p.Gly4091=) c.8457C>G (p.Gly2819=) c.8010C>G (p.Gly2670=) c.7347C>G (p.Gly2449=) c.11862C>G (p.Gly3954=) | |
| 5 | g.13708201G>T | CA443251107 | DNAH5 | n.593C>A c.13260C>A (p.Gly4420=) c.13215C>A (p.Gly4405=) c.13368C>A (p.Gly4456=) c.12948C>A (p.Gly4316=) c.12273C>A (p.Gly4091=) c.8457C>A (p.Gly2819=) c.8010C>A (p.Gly2670=) c.7347C>A (p.Gly2449=) c.11862C>A (p.Gly3954=) | gnomAD v4 |
| 5 | g.13708202C>A | CA359196926 | DNAH5 | n.592G>T c.13259G>T (p.Gly4420Val) c.13214G>T (p.Gly4405Val) c.13367G>T (p.Gly4456Val) c.12947G>T (p.Gly4316Val) c.12272G>T (p.Gly4091Val) c.8456G>T (p.Gly2819Val) c.8009G>T (p.Gly2670Val) c.7346G>T (p.Gly2449Val) c.11861G>T (p.Gly3954Val) | |
| 5 | g.13708202C>G | CA359196929 | DNAH5 | n.592G>C c.13259G>C (p.Gly4420Ala) c.13214G>C (p.Gly4405Ala) c.13367G>C (p.Gly4456Ala) c.12947G>C (p.Gly4316Ala) c.12272G>C (p.Gly4091Ala) c.8456G>C (p.Gly2819Ala) c.8009G>C (p.Gly2670Ala) c.7346G>C (p.Gly2449Ala) c.11861G>C (p.Gly3954Ala) | |
| 5 | g.13708202C>T | CA359196931 | DNAH5 | n.592G>A c.13259G>A (p.Gly4420Asp) c.13214G>A (p.Gly4405Asp) c.13367G>A (p.Gly4456Asp) c.12947G>A (p.Gly4316Asp) c.12272G>A (p.Gly4091Asp) c.8456G>A (p.Gly2819Asp) c.8009G>A (p.Gly2670Asp) c.7346G>A (p.Gly2449Asp) c.11861G>A (p.Gly3954Asp) | |
| 5 | g.13708203C>A | CA359196933 | DNAH5 | n.591G>T c.13258G>T (p.Gly4420Cys) c.13213G>T (p.Gly4405Cys) c.13366G>T (p.Gly4456Cys) c.12946G>T (p.Gly4316Cys) c.12271G>T (p.Gly4091Cys) c.8455G>T (p.Gly2819Cys) c.8008G>T (p.Gly2670Cys) c.7345G>T (p.Gly2449Cys) c.11860G>T (p.Gly3954Cys) | |
| 5 | g.13708203C>G | CA359196935 | DNAH5 | n.591G>C c.13258G>C (p.Gly4420Arg) c.13213G>C (p.Gly4405Arg) c.13366G>C (p.Gly4456Arg) c.12946G>C (p.Gly4316Arg) c.12271G>C (p.Gly4091Arg) c.8455G>C (p.Gly2819Arg) c.8008G>C (p.Gly2670Arg) c.7345G>C (p.Gly2449Arg) c.11860G>C (p.Gly3954Arg) | |
| 5 | g.13708203C>T | CA359196932 | DNAH5 | n.591G>A c.13258G>A (p.Gly4420Ser) c.13213G>A (p.Gly4405Ser) c.13366G>A (p.Gly4456Ser) c.12946G>A (p.Gly4316Ser) c.12271G>A (p.Gly4091Ser) c.8455G>A (p.Gly2819Ser) c.8008G>A (p.Gly2670Ser) c.7345G>A (p.Gly2449Ser) c.11860G>A (p.Gly3954Ser) | |
| 5 | g.13708204A>C | CA359196940 | DNAH5 | n.590T>G c.13257T>G (p.Asp4419Glu) c.13212T>G (p.Asp4404Glu) c.13365T>G (p.Asp4455Glu) c.12945T>G (p.Asp4315Glu) c.12270T>G (p.Asp4090Glu) c.8454T>G (p.Asp2818Glu) c.8007T>G (p.Asp2669Glu) c.7344T>G (p.Asp2448Glu) c.11859T>G (p.Asp3953Glu) | |
| 5 | g.13708204A>G | CA443251110 | DNAH5 | n.590T>C c.13257T>C (p.Asp4419=) c.13212T>C (p.Asp4404=) c.13365T>C (p.Asp4455=) c.12945T>C (p.Asp4315=) c.12270T>C (p.Asp4090=) c.8454T>C (p.Asp2818=) c.8007T>C (p.Asp2669=) c.7344T>C (p.Asp2448=) c.11859T>C (p.Asp3953=) | |
| 5 | g.13708204A>T | CA359196943 | DNAH5 | n.590T>A c.13257T>A (p.Asp4419Glu) c.13212T>A (p.Asp4404Glu) c.13365T>A (p.Asp4455Glu) c.12945T>A (p.Asp4315Glu) c.12270T>A (p.Asp4090Glu) c.8454T>A (p.Asp2818Glu) c.8007T>A (p.Asp2669Glu) c.7344T>A (p.Asp2448Glu) c.11859T>A (p.Asp3953Glu) | |
| 5 | g.13708205T>A | CA359196948 | DNAH5 | n.589A>T c.13256A>T (p.Asp4419Val) c.13211A>T (p.Asp4404Val) c.13364A>T (p.Asp4455Val) c.12944A>T (p.Asp4315Val) c.12269A>T (p.Asp4090Val) c.8453A>T (p.Asp2818Val) c.8006A>T (p.Asp2669Val) c.7343A>T (p.Asp2448Val) c.11858A>T (p.Asp3953Val) | |
| 5 | g.13708205T>C | CA359196953 | DNAH5 | n.589A>G c.13256A>G (p.Asp4419Gly) c.13211A>G (p.Asp4404Gly) c.13364A>G (p.Asp4455Gly) c.12944A>G (p.Asp4315Gly) c.12269A>G (p.Asp4090Gly) c.8453A>G (p.Asp2818Gly) c.8006A>G (p.Asp2669Gly) c.7343A>G (p.Asp2448Gly) c.11858A>G (p.Asp3953Gly) | COSMIC |
| 5 | g.13708205T>G | CA359196950 | DNAH5 | n.589A>C c.13256A>C (p.Asp4419Ala) c.13211A>C (p.Asp4404Ala) c.13364A>C (p.Asp4455Ala) c.12944A>C (p.Asp4315Ala) c.12269A>C (p.Asp4090Ala) c.8453A>C (p.Asp2818Ala) c.8006A>C (p.Asp2669Ala) c.7343A>C (p.Asp2448Ala) c.11858A>C (p.Asp3953Ala) | |
| 5 | g.13708205_13708206del | CA2580071994 | DNAH5 | n.588_589del c.13255_13256del (p.Asp4419TrpfsTer18) c.13210_13211del (p.Asp4404TrpfsTer18) c.13363_13364del (p.Asp4455TrpfsTer18) c.12943_12944del (p.Asp4315TrpfsTer18) c.12268_12269del (p.Asp4090TrpfsTer18) c.8452_8453del (p.Asp2818TrpfsTer18) c.8005_8006del (p.Asp2669TrpfsTer18) c.7342_7343del (p.Asp2448TrpfsTer18) c.11857_11858del (p.Asp3953TrpfsTer18) | ClinVar |
| 5 | g.13708206C>A | CA359196954 | DNAH5 | n.588G>T c.13255G>T (p.Asp4419Tyr) c.13210G>T (p.Asp4404Tyr) c.13363G>T (p.Asp4455Tyr) c.12943G>T (p.Asp4315Tyr) c.12268G>T (p.Asp4090Tyr) c.8452G>T (p.Asp2818Tyr) c.8005G>T (p.Asp2669Tyr) c.7342G>T (p.Asp2448Tyr) c.11857G>T (p.Asp3953Tyr) | |
| 5 | g.13708206C= | CA1528403762 | DNAH5 | n.588G= c.13255G= (p.Asp4419=) c.13210G= (p.Asp4404=) c.13363G= (p.Asp4455=) c.12943G= (p.Asp4315=) c.12268G= (p.Asp4090=) c.8452G= (p.Asp2818=) c.8005G= (p.Asp2669=) c.7342G= (p.Asp2448=) c.11857G= (p.Asp3953=) | |
| 5 | g.13708206C>G | CA3201412 | DNAH5 | n.588G>C c.13255G>C (p.Asp4419His) c.13210G>C (p.Asp4404His) c.13363G>C (p.Asp4455His) c.12943G>C (p.Asp4315His) c.12268G>C (p.Asp4090His) c.8452G>C (p.Asp2818His) c.8005G>C (p.Asp2669His) c.7342G>C (p.Asp2448His) c.11857G>C (p.Asp3953His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708206C>T | CA359196957 | DNAH5 | n.588G>A c.13255G>A (p.Asp4419Asn) c.13210G>A (p.Asp4404Asn) c.13363G>A (p.Asp4455Asn) c.12943G>A (p.Asp4315Asn) c.12268G>A (p.Asp4090Asn) c.8452G>A (p.Asp2818Asn) c.8005G>A (p.Asp2669Asn) c.7342G>A (p.Asp2448Asn) c.11857G>A (p.Asp3953Asn) | gnomAD v4 |
| 5 | g.13708207A>C | CA359196964 | DNAH5 | n.587T>G c.13254T>G (p.Ile4418Met) c.13209T>G (p.Ile4403Met) c.13362T>G (p.Ile4454Met) c.12942T>G (p.Ile4314Met) c.12267T>G (p.Ile4089Met) c.8451T>G (p.Ile2817Met) c.8004T>G (p.Ile2668Met) c.7341T>G (p.Ile2447Met) c.11856T>G (p.Ile3952Met) | |
| 5 | g.13708207A>G | CA443251111 | DNAH5 | n.587T>C c.13254T>C (p.Ile4418=) c.13209T>C (p.Ile4403=) c.13362T>C (p.Ile4454=) c.12942T>C (p.Ile4314=) c.12267T>C (p.Ile4089=) c.8451T>C (p.Ile2817=) c.8004T>C (p.Ile2668=) c.7341T>C (p.Ile2447=) c.11856T>C (p.Ile3952=) | ClinVar dbSNP |
| 5 | g.13708207A>T | CA443251112 | DNAH5 | n.587T>A c.13254T>A (p.Ile4418=) c.13209T>A (p.Ile4403=) c.13362T>A (p.Ile4454=) c.12942T>A (p.Ile4314=) c.12267T>A (p.Ile4089=) c.8451T>A (p.Ile2817=) c.8004T>A (p.Ile2668=) c.7341T>A (p.Ile2447=) c.11856T>A (p.Ile3952=) | |
| 5 | g.13708208A>C | CA359196974 | DNAH5 | n.586T>G c.13253T>G (p.Ile4418Ser) c.13208T>G (p.Ile4403Ser) c.13361T>G (p.Ile4454Ser) c.12941T>G (p.Ile4314Ser) c.12266T>G (p.Ile4089Ser) c.8450T>G (p.Ile2817Ser) c.8003T>G (p.Ile2668Ser) c.7340T>G (p.Ile2447Ser) c.11855T>G (p.Ile3952Ser) | |
| 5 | g.13708208A>G | CA359196975 | DNAH5 | n.586T>C c.13253T>C (p.Ile4418Thr) c.13208T>C (p.Ile4403Thr) c.13361T>C (p.Ile4454Thr) c.12941T>C (p.Ile4314Thr) c.12266T>C (p.Ile4089Thr) c.8450T>C (p.Ile2817Thr) c.8003T>C (p.Ile2668Thr) c.7340T>C (p.Ile2447Thr) c.11855T>C (p.Ile3952Thr) | |
| 5 | g.13708208A>T | CA359196976 | DNAH5 | n.586T>A c.13253T>A (p.Ile4418Asn) c.13208T>A (p.Ile4403Asn) c.13361T>A (p.Ile4454Asn) c.12941T>A (p.Ile4314Asn) c.12266T>A (p.Ile4089Asn) c.8450T>A (p.Ile2817Asn) c.8003T>A (p.Ile2668Asn) c.7340T>A (p.Ile2447Asn) c.11855T>A (p.Ile3952Asn) | |
| 5 | g.13708209T>A | CA359196977 | DNAH5 | n.585A>T c.13252A>T (p.Ile4418Phe) c.13207A>T (p.Ile4403Phe) c.13360A>T (p.Ile4454Phe) c.12940A>T (p.Ile4314Phe) c.12265A>T (p.Ile4089Phe) c.8449A>T (p.Ile2817Phe) c.8002A>T (p.Ile2668Phe) c.7339A>T (p.Ile2447Phe) c.11854A>T (p.Ile3952Phe) | |
| 5 | g.13708209T>C | CA3201414 | DNAH5 | n.585A>G c.13252A>G (p.Ile4418Val) c.13207A>G (p.Ile4403Val) c.13360A>G (p.Ile4454Val) c.12940A>G (p.Ile4314Val) c.12265A>G (p.Ile4089Val) c.8449A>G (p.Ile2817Val) c.8002A>G (p.Ile2668Val) c.7339A>G (p.Ile2447Val) c.11854A>G (p.Ile3952Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708209T>G | CA3201413 | DNAH5 | n.585A>C c.13252A>C (p.Ile4418Leu) c.13207A>C (p.Ile4403Leu) c.13360A>C (p.Ile4454Leu) c.12940A>C (p.Ile4314Leu) c.12265A>C (p.Ile4089Leu) c.8449A>C (p.Ile2817Leu) c.8002A>C (p.Ile2668Leu) c.7339A>C (p.Ile2447Leu) c.11854A>C (p.Ile3952Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708209T= | CA1528403763 | DNAH5 | n.585A= c.13252A= (p.Ile4418=) c.13207A= (p.Ile4403=) c.13360A= (p.Ile4454=) c.12940A= (p.Ile4314=) c.12265A= (p.Ile4089=) c.8449A= (p.Ile2817=) c.8002A= (p.Ile2668=) c.7339A= (p.Ile2447=) c.11854A= (p.Ile3952=) | |
| 5 | g.13708210A= | CA1528403764 | DNAH5 | n.584T= c.13251T= (p.Ala4417=) c.13206T= (p.Ala4402=) c.13359T= (p.Ala4453=) c.12939T= (p.Ala4313=) c.12264T= (p.Ala4088=) c.8448T= (p.Ala2816=) c.8001T= (p.Ala2667=) c.7338T= (p.Ala2446=) c.11853T= (p.Ala3951=) | |
| 5 | g.13708210A>C | CA443251216 | DNAH5 | n.584T>G c.13251T>G (p.Ala4417=) c.13206T>G (p.Ala4402=) c.13359T>G (p.Ala4453=) c.12939T>G (p.Ala4313=) c.12264T>G (p.Ala4088=) c.8448T>G (p.Ala2816=) c.8001T>G (p.Ala2667=) c.7338T>G (p.Ala2446=) c.11853T>G (p.Ala3951=) | |
| 5 | g.13708210A>G | CA443251217 | DNAH5 | n.584T>C c.13251T>C (p.Ala4417=) c.13206T>C (p.Ala4402=) c.13359T>C (p.Ala4453=) c.12939T>C (p.Ala4313=) c.12264T>C (p.Ala4088=) c.8448T>C (p.Ala2816=) c.8001T>C (p.Ala2667=) c.7338T>C (p.Ala2446=) c.11853T>C (p.Ala3951=) | dbSNP |
| 5 | g.13708210A>T | CA443251218 | DNAH5 | n.584T>A c.13251T>A (p.Ala4417=) c.13206T>A (p.Ala4402=) c.13359T>A (p.Ala4453=) c.12939T>A (p.Ala4313=) c.12264T>A (p.Ala4088=) c.8448T>A (p.Ala2816=) c.8001T>A (p.Ala2667=) c.7338T>A (p.Ala2446=) c.11853T>A (p.Ala3951=) | |
| 5 | g.13708211G>A | CA359196983 | DNAH5 | n.583C>T c.13250C>T (p.Ala4417Val) c.13205C>T (p.Ala4402Val) c.13358C>T (p.Ala4453Val) c.12938C>T (p.Ala4313Val) c.12263C>T (p.Ala4088Val) c.8447C>T (p.Ala2816Val) c.8000C>T (p.Ala2667Val) c.7337C>T (p.Ala2446Val) c.11852C>T (p.Ala3951Val) | |
| 5 | g.13708211G>C | CA3201415 | DNAH5 | n.583C>G c.13250C>G (p.Ala4417Gly) c.13205C>G (p.Ala4402Gly) c.13358C>G (p.Ala4453Gly) c.12938C>G (p.Ala4313Gly) c.12263C>G (p.Ala4088Gly) c.8447C>G (p.Ala2816Gly) c.8000C>G (p.Ala2667Gly) c.7337C>G (p.Ala2446Gly) c.11852C>G (p.Ala3951Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708211G= | CA1528403765 | DNAH5 | n.583C= c.13250C= (p.Ala4417=) c.13205C= (p.Ala4402=) c.13358C= (p.Ala4453=) c.12938C= (p.Ala4313=) c.12263C= (p.Ala4088=) c.8447C= (p.Ala2816=) c.8000C= (p.Ala2667=) c.7337C= (p.Ala2446=) c.11852C= (p.Ala3951=) | |
| 5 | g.13708211G>T | CA359196982 | DNAH5 | n.583C>A c.13250C>A (p.Ala4417Asp) c.13205C>A (p.Ala4402Asp) c.13358C>A (p.Ala4453Asp) c.12938C>A (p.Ala4313Asp) c.12263C>A (p.Ala4088Asp) c.8447C>A (p.Ala2816Asp) c.8000C>A (p.Ala2667Asp) c.7337C>A (p.Ala2446Asp) c.11852C>A (p.Ala3951Asp) | |
| 5 | g.13708212C>A | CA359196984 | DNAH5 | n.582G>T c.13249G>T (p.Ala4417Ser) c.13204G>T (p.Ala4402Ser) c.13357G>T (p.Ala4453Ser) c.12937G>T (p.Ala4313Ser) c.12262G>T (p.Ala4088Ser) c.8446G>T (p.Ala2816Ser) c.7999G>T (p.Ala2667Ser) c.7336G>T (p.Ala2446Ser) c.11851G>T (p.Ala3951Ser) | |
| 5 | g.13708212C>G | CA359196985 | DNAH5 | n.582G>C c.13249G>C (p.Ala4417Pro) c.13204G>C (p.Ala4402Pro) c.13357G>C (p.Ala4453Pro) c.12937G>C (p.Ala4313Pro) c.12262G>C (p.Ala4088Pro) c.8446G>C (p.Ala2816Pro) c.7999G>C (p.Ala2667Pro) c.7336G>C (p.Ala2446Pro) c.11851G>C (p.Ala3951Pro) | |
| 5 | g.13708212C>T | CA359196986 | DNAH5 | n.582G>A c.13249G>A (p.Ala4417Thr) c.13204G>A (p.Ala4402Thr) c.13357G>A (p.Ala4453Thr) c.12937G>A (p.Ala4313Thr) c.12262G>A (p.Ala4088Thr) c.8446G>A (p.Ala2816Thr) c.7999G>A (p.Ala2667Thr) c.7336G>A (p.Ala2446Thr) c.11851G>A (p.Ala3951Thr) | |
| 5 | g.13708213A>C | CA443251220 | DNAH5 | n.581T>G c.13248T>G (p.Leu4416=) c.13203T>G (p.Leu4401=) c.13356T>G (p.Leu4452=) c.12936T>G (p.Leu4312=) c.12261T>G (p.Leu4087=) c.8445T>G (p.Leu2815=) c.7998T>G (p.Leu2666=) c.7335T>G (p.Leu2445=) c.11850T>G (p.Leu3950=) | |
| 5 | g.13708213A>G | CA443251222 | DNAH5 | n.581T>C c.13248T>C (p.Leu4416=) c.13203T>C (p.Leu4401=) c.13356T>C (p.Leu4452=) c.12936T>C (p.Leu4312=) c.12261T>C (p.Leu4087=) c.8445T>C (p.Leu2815=) c.7998T>C (p.Leu2666=) c.7335T>C (p.Leu2445=) c.11850T>C (p.Leu3950=) | |
| 5 | g.13708213A>T | CA443251223 | DNAH5 | n.581T>A c.13248T>A (p.Leu4416=) c.13203T>A (p.Leu4401=) c.13356T>A (p.Leu4452=) c.12936T>A (p.Leu4312=) c.12261T>A (p.Leu4087=) c.8445T>A (p.Leu2815=) c.7998T>A (p.Leu2666=) c.7335T>A (p.Leu2445=) c.11850T>A (p.Leu3950=) | |
| 5 | g.13708214A>C | CA359196987 | DNAH5 | n.580T>G c.13247T>G (p.Leu4416Arg) c.13202T>G (p.Leu4401Arg) c.13355T>G (p.Leu4452Arg) c.12935T>G (p.Leu4312Arg) c.12260T>G (p.Leu4087Arg) c.8444T>G (p.Leu2815Arg) c.7997T>G (p.Leu2666Arg) c.7334T>G (p.Leu2445Arg) c.11849T>G (p.Leu3950Arg) | |
| 5 | g.13708214A>G | CA359196989 | DNAH5 | n.580T>C c.13247T>C (p.Leu4416Pro) c.13202T>C (p.Leu4401Pro) c.13355T>C (p.Leu4452Pro) c.12935T>C (p.Leu4312Pro) c.12260T>C (p.Leu4087Pro) c.8444T>C (p.Leu2815Pro) c.7997T>C (p.Leu2666Pro) c.7334T>C (p.Leu2445Pro) c.11849T>C (p.Leu3950Pro) | |
| 5 | g.13708214A>T | CA359196991 | DNAH5 | n.580T>A c.13247T>A (p.Leu4416His) c.13202T>A (p.Leu4401His) c.13355T>A (p.Leu4452His) c.12935T>A (p.Leu4312His) c.12260T>A (p.Leu4087His) c.8444T>A (p.Leu2815His) c.7997T>A (p.Leu2666His) c.7334T>A (p.Leu2445His) c.11849T>A (p.Leu3950His) | |
| 5 | g.13708215G>A | CA359196993 | DNAH5 | n.579C>T c.13246C>T (p.Leu4416Phe) c.13201C>T (p.Leu4401Phe) c.13354C>T (p.Leu4452Phe) c.12934C>T (p.Leu4312Phe) c.12259C>T (p.Leu4087Phe) c.8443C>T (p.Leu2815Phe) c.7996C>T (p.Leu2666Phe) c.7333C>T (p.Leu2445Phe) c.11848C>T (p.Leu3950Phe) | dbSNP |
| 5 | g.13708215G>C | CA359196995 | DNAH5 | n.579C>G c.13246C>G (p.Leu4416Val) c.13201C>G (p.Leu4401Val) c.13354C>G (p.Leu4452Val) c.12934C>G (p.Leu4312Val) c.12259C>G (p.Leu4087Val) c.8443C>G (p.Leu2815Val) c.7996C>G (p.Leu2666Val) c.7333C>G (p.Leu2445Val) c.11848C>G (p.Leu3950Val) | |
| 5 | g.13708215G= | CA1528403766 | DNAH5 | n.579C= c.13246C= (p.Leu4416=) c.13201C= (p.Leu4401=) c.13354C= (p.Leu4452=) c.12934C= (p.Leu4312=) c.12259C= (p.Leu4087=) c.8443C= (p.Leu2815=) c.7996C= (p.Leu2666=) c.7333C= (p.Leu2445=) c.11848C= (p.Leu3950=) | |
| 5 | g.13708215G>T | CA359197001 | DNAH5 | n.579C>A c.13246C>A (p.Leu4416Ile) c.13201C>A (p.Leu4401Ile) c.13354C>A (p.Leu4452Ile) c.12934C>A (p.Leu4312Ile) c.12259C>A (p.Leu4087Ile) c.8443C>A (p.Leu2815Ile) c.7996C>A (p.Leu2666Ile) c.7333C>A (p.Leu2445Ile) c.11848C>A (p.Leu3950Ile) | |
| 5 | g.13708216T>A | CA359197005 | DNAH5 | n.578A>T c.13245A>T (p.Lys4415Asn) c.13200A>T (p.Lys4400Asn) c.13353A>T (p.Lys4451Asn) c.12933A>T (p.Lys4311Asn) c.12258A>T (p.Lys4086Asn) c.8442A>T (p.Lys2814Asn) c.7995A>T (p.Lys2665Asn) c.7332A>T (p.Lys2444Asn) c.11847A>T (p.Lys3949Asn) | |
| 5 | g.13708216T>C | CA443251228 | DNAH5 | n.578A>G c.13245A>G (p.Lys4415=) c.13200A>G (p.Lys4400=) c.13353A>G (p.Lys4451=) c.12933A>G (p.Lys4311=) c.12258A>G (p.Lys4086=) c.8442A>G (p.Lys2814=) c.7995A>G (p.Lys2665=) c.7332A>G (p.Lys2444=) c.11847A>G (p.Lys3949=) | |
| 5 | g.13708216T>G | CA359197012 | DNAH5 | n.578A>C c.13245A>C (p.Lys4415Asn) c.13200A>C (p.Lys4400Asn) c.13353A>C (p.Lys4451Asn) c.12933A>C (p.Lys4311Asn) c.12258A>C (p.Lys4086Asn) c.8442A>C (p.Lys2814Asn) c.7995A>C (p.Lys2665Asn) c.7332A>C (p.Lys2444Asn) c.11847A>C (p.Lys3949Asn) | |
| 5 | g.13708218del | CA2673266639 | DNAH5 | n.578del c.13245del (p.Lys4415AsnfsTer10) c.13200del (p.Lys4400AsnfsTer10) c.13353del (p.Lys4451AsnfsTer10) c.12933del (p.Lys4311AsnfsTer10) c.12258del (p.Lys4086AsnfsTer10) c.8442del (p.Lys2814AsnfsTer10) c.7995del (p.Lys2665AsnfsTer10) c.7332del (p.Lys2444AsnfsTer10) c.11847del (p.Lys3949AsnfsTer10) | gnomAD v4 |
| 5 | g.13708217T>A | CA359197014 | DNAH5 | n.577A>T c.13244A>T (p.Lys4415Ile) c.13199A>T (p.Lys4400Ile) c.13352A>T (p.Lys4451Ile) c.12932A>T (p.Lys4311Ile) c.12257A>T (p.Lys4086Ile) c.8441A>T (p.Lys2814Ile) c.7994A>T (p.Lys2665Ile) c.7331A>T (p.Lys2444Ile) c.11846A>T (p.Lys3949Ile) | |
| 5 | g.13708217T>C | CA359197015 | DNAH5 | n.577A>G c.13244A>G (p.Lys4415Arg) c.13199A>G (p.Lys4400Arg) c.13352A>G (p.Lys4451Arg) c.12932A>G (p.Lys4311Arg) c.12257A>G (p.Lys4086Arg) c.8441A>G (p.Lys2814Arg) c.7994A>G (p.Lys2665Arg) c.7331A>G (p.Lys2444Arg) c.11846A>G (p.Lys3949Arg) | |
| 5 | g.13708217T>G | CA359197013 | DNAH5 | n.577A>C c.13244A>C (p.Lys4415Thr) c.13199A>C (p.Lys4400Thr) c.13352A>C (p.Lys4451Thr) c.12932A>C (p.Lys4311Thr) c.12257A>C (p.Lys4086Thr) c.8441A>C (p.Lys2814Thr) c.7994A>C (p.Lys2665Thr) c.7331A>C (p.Lys2444Thr) c.11846A>C (p.Lys3949Thr) | |
| 5 | g.13708218T>A | CA359197020 | DNAH5 | n.576A>T c.13243A>T (p.Lys4415Ter) c.13198A>T (p.Lys4400Ter) c.13351A>T (p.Lys4451Ter) c.12931A>T (p.Lys4311Ter) c.12256A>T (p.Lys4086Ter) c.8440A>T (p.Lys2814Ter) c.7993A>T (p.Lys2665Ter) c.7330A>T (p.Lys2444Ter) c.11845A>T (p.Lys3949Ter) | |
| 5 | g.13708218T>C | CA359197026 | DNAH5 | n.576A>G c.13243A>G (p.Lys4415Glu) c.13198A>G (p.Lys4400Glu) c.13351A>G (p.Lys4451Glu) c.12931A>G (p.Lys4311Glu) c.12256A>G (p.Lys4086Glu) c.8440A>G (p.Lys2814Glu) c.7993A>G (p.Lys2665Glu) c.7330A>G (p.Lys2444Glu) c.11845A>G (p.Lys3949Glu) | |
| 5 | g.13708218T>G | CA359197028 | DNAH5 | n.576A>C c.13243A>C (p.Lys4415Gln) c.13198A>C (p.Lys4400Gln) c.13351A>C (p.Lys4451Gln) c.12931A>C (p.Lys4311Gln) c.12256A>C (p.Lys4086Gln) c.8440A>C (p.Lys2814Gln) c.7993A>C (p.Lys2665Gln) c.7330A>C (p.Lys2444Gln) c.11845A>C (p.Lys3949Gln) | |
| 5 | g.13708219C>A | CA443251232 | DNAH5 | n.575G>T c.13242G>T (p.Leu4414=) c.13197G>T (p.Leu4399=) c.13350G>T (p.Leu4450=) c.12930G>T (p.Leu4310=) c.12255G>T (p.Leu4085=) c.8439G>T (p.Leu2813=) c.7992G>T (p.Leu2664=) c.7329G>T (p.Leu2443=) c.11844G>T (p.Leu3948=) | |
| 5 | g.13708219C>G | CA443251234 | DNAH5 | n.575G>C c.13242G>C (p.Leu4414=) c.13197G>C (p.Leu4399=) c.13350G>C (p.Leu4450=) c.12930G>C (p.Leu4310=) c.12255G>C (p.Leu4085=) c.8439G>C (p.Leu2813=) c.7992G>C (p.Leu2664=) c.7329G>C (p.Leu2443=) c.11844G>C (p.Leu3948=) | |
| 5 | g.13708219C>T | CA443251235 | DNAH5 | n.575G>A c.13242G>A (p.Leu4414=) c.13197G>A (p.Leu4399=) c.13350G>A (p.Leu4450=) c.12930G>A (p.Leu4310=) c.12255G>A (p.Leu4085=) c.8439G>A (p.Leu2813=) c.7992G>A (p.Leu2664=) c.7329G>A (p.Leu2443=) c.11844G>A (p.Leu3948=) | |
| 5 | g.13708220A>C | CA359197034 | DNAH5 | n.574T>G c.13241T>G (p.Leu4414Arg) c.13196T>G (p.Leu4399Arg) c.13349T>G (p.Leu4450Arg) c.12929T>G (p.Leu4310Arg) c.12254T>G (p.Leu4085Arg) c.8438T>G (p.Leu2813Arg) c.7991T>G (p.Leu2664Arg) c.7328T>G (p.Leu2443Arg) c.11843T>G (p.Leu3948Arg) | |
| 5 | g.13708220A>G | CA359197036 | DNAH5 | n.574T>C c.13241T>C (p.Leu4414Pro) c.13196T>C (p.Leu4399Pro) c.13349T>C (p.Leu4450Pro) c.12929T>C (p.Leu4310Pro) c.12254T>C (p.Leu4085Pro) c.8438T>C (p.Leu2813Pro) c.7991T>C (p.Leu2664Pro) c.7328T>C (p.Leu2443Pro) c.11843T>C (p.Leu3948Pro) | |
| 5 | g.13708220A>T | CA359197037 | DNAH5 | n.574T>A c.13241T>A (p.Leu4414Gln) c.13196T>A (p.Leu4399Gln) c.13349T>A (p.Leu4450Gln) c.12929T>A (p.Leu4310Gln) c.12254T>A (p.Leu4085Gln) c.8438T>A (p.Leu2813Gln) c.7991T>A (p.Leu2664Gln) c.7328T>A (p.Leu2443Gln) c.11843T>A (p.Leu3948Gln) | |
| 5 | g.13708221G>A | CA443251236 | DNAH5 | n.573C>T c.13240C>T (p.Leu4414=) c.13195C>T (p.Leu4399=) c.13348C>T (p.Leu4450=) c.12928C>T (p.Leu4310=) c.12253C>T (p.Leu4085=) c.8437C>T (p.Leu2813=) c.7990C>T (p.Leu2664=) c.7327C>T (p.Leu2443=) c.11842C>T (p.Leu3948=) | |
| 5 | g.13708221G>C | CA359197042 | DNAH5 | n.573C>G c.13240C>G (p.Leu4414Val) c.13195C>G (p.Leu4399Val) c.13348C>G (p.Leu4450Val) c.12928C>G (p.Leu4310Val) c.12253C>G (p.Leu4085Val) c.8437C>G (p.Leu2813Val) c.7990C>G (p.Leu2664Val) c.7327C>G (p.Leu2443Val) c.11842C>G (p.Leu3948Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13708221G= | CA1528403767 | DNAH5 | n.573C= c.13240C= (p.Leu4414=) c.13195C= (p.Leu4399=) c.13348C= (p.Leu4450=) c.12928C= (p.Leu4310=) c.12253C= (p.Leu4085=) c.8437C= (p.Leu2813=) c.7990C= (p.Leu2664=) c.7327C= (p.Leu2443=) c.11842C= (p.Leu3948=) | |
| 5 | g.13708221G>T | CA359197044 | DNAH5 | n.573C>A c.13240C>A (p.Leu4414Met) c.13195C>A (p.Leu4399Met) c.13348C>A (p.Leu4450Met) c.12928C>A (p.Leu4310Met) c.12253C>A (p.Leu4085Met) c.8437C>A (p.Leu2813Met) c.7990C>A (p.Leu2664Met) c.7327C>A (p.Leu2443Met) c.11842C>A (p.Leu3948Met) | |
| 5 | g.13708223_13708238del | CA2673266640 | DNAH5 | n.558_573del c.13225_13240del (p.Ser4409Ter) c.13180_13195del (p.Ser4394Ter) c.13333_13348del (p.Ser4445Ter) c.12913_12928del (p.Ser4305Ter) c.12238_12253del (p.Ser4080Ter) c.8422_8437del (p.Ser2808Ter) c.7975_7990del (p.Ser2659Ter) c.7312_7327del (p.Ser2438Ter) c.11827_11842del (p.Ser3943Ter) | gnomAD v4 |
| 5 | g.13708222C>A | CA359197048 | DNAH5 | n.572G>T c.13239G>T (p.Glu4413Asp) c.13194G>T (p.Glu4398Asp) c.13347G>T (p.Glu4449Asp) c.12927G>T (p.Glu4309Asp) c.12252G>T (p.Glu4084Asp) c.8436G>T (p.Glu2812Asp) c.7989G>T (p.Glu2663Asp) c.7326G>T (p.Glu2442Asp) c.11841G>T (p.Glu3947Asp) | |
| 5 | g.13708222C= | CA1528403768 | DNAH5 | n.572G= c.13239G= (p.Glu4413=) c.13194G= (p.Glu4398=) c.13347G= (p.Glu4449=) c.12927G= (p.Glu4309=) c.12252G= (p.Glu4084=) c.8436G= (p.Glu2812=) c.7989G= (p.Glu2663=) c.7326G= (p.Glu2442=) c.11841G= (p.Glu3947=) | |
| 5 | g.13708222C>G | CA359197052 | DNAH5 | n.572G>C c.13239G>C (p.Glu4413Asp) c.13194G>C (p.Glu4398Asp) c.13347G>C (p.Glu4449Asp) c.12927G>C (p.Glu4309Asp) c.12252G>C (p.Glu4084Asp) c.8436G>C (p.Glu2812Asp) c.7989G>C (p.Glu2663Asp) c.7326G>C (p.Glu2442Asp) c.11841G>C (p.Glu3947Asp) | |
| 5 | g.13708222C>T | CA443251242 | DNAH5 | n.572G>A c.13239G>A (p.Glu4413=) c.13194G>A (p.Glu4398=) c.13347G>A (p.Glu4449=) c.12927G>A (p.Glu4309=) c.12252G>A (p.Glu4084=) c.8436G>A (p.Glu2812=) c.7989G>A (p.Glu2663=) c.7326G>A (p.Glu2442=) c.11841G>A (p.Glu3947=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13708223del | CA2673266641 | DNAH5 | n.571del c.13238del (p.Glu4413GlyfsTer2) c.13193del (p.Glu4398GlyfsTer2) c.13346del (p.Glu4449GlyfsTer2) c.12926del (p.Glu4309GlyfsTer2) c.12251del (p.Glu4084GlyfsTer2) c.8435del (p.Glu2812GlyfsTer2) c.7988del (p.Glu2663GlyfsTer2) c.7325del (p.Glu2442GlyfsTer2) c.11840del (p.Glu3947GlyfsTer2) | gnomAD v4 |
| 5 | g.13708223T>A | CA359197057 | DNAH5 | n.571A>T c.13238A>T (p.Glu4413Val) c.13193A>T (p.Glu4398Val) c.13346A>T (p.Glu4449Val) c.12926A>T (p.Glu4309Val) c.12251A>T (p.Glu4084Val) c.8435A>T (p.Glu2812Val) c.7988A>T (p.Glu2663Val) c.7325A>T (p.Glu2442Val) c.11840A>T (p.Glu3947Val) | |
| 5 | g.13708223T>C | CA359197062 | DNAH5 | n.571A>G c.13238A>G (p.Glu4413Gly) c.13193A>G (p.Glu4398Gly) c.13346A>G (p.Glu4449Gly) c.12926A>G (p.Glu4309Gly) c.12251A>G (p.Glu4084Gly) c.8435A>G (p.Glu2812Gly) c.7988A>G (p.Glu2663Gly) c.7325A>G (p.Glu2442Gly) c.11840A>G (p.Glu3947Gly) | |
| 5 | g.13708223T>G | CA359197064 | DNAH5 | n.571A>C c.13238A>C (p.Glu4413Ala) c.13193A>C (p.Glu4398Ala) c.13346A>C (p.Glu4449Ala) c.12926A>C (p.Glu4309Ala) c.12251A>C (p.Glu4084Ala) c.8435A>C (p.Glu2812Ala) c.7988A>C (p.Glu2663Ala) c.7325A>C (p.Glu2442Ala) c.11840A>C (p.Glu3947Ala) | |
| 5 | g.13708224C>A | CA359197072 | DNAH5 | n.570G>T c.13237G>T (p.Glu4413Ter) c.13192G>T (p.Glu4398Ter) c.13345G>T (p.Glu4449Ter) c.12925G>T (p.Glu4309Ter) c.12250G>T (p.Glu4084Ter) c.8434G>T (p.Glu2812Ter) c.7987G>T (p.Glu2663Ter) c.7324G>T (p.Glu2442Ter) c.11839G>T (p.Glu3947Ter) | |
| 5 | g.13708224C>G | CA359197086 | DNAH5 | n.570G>C c.13237G>C (p.Glu4413Gln) c.13192G>C (p.Glu4398Gln) c.13345G>C (p.Glu4449Gln) c.12925G>C (p.Glu4309Gln) c.12250G>C (p.Glu4084Gln) c.8434G>C (p.Glu2812Gln) c.7987G>C (p.Glu2663Gln) c.7324G>C (p.Glu2442Gln) c.11839G>C (p.Glu3947Gln) | |
| 5 | g.13708224C>T | CA359197084 | DNAH5 | n.570G>A c.13237G>A (p.Glu4413Lys) c.13192G>A (p.Glu4398Lys) c.13345G>A (p.Glu4449Lys) c.12925G>A (p.Glu4309Lys) c.12250G>A (p.Glu4084Lys) c.8434G>A (p.Glu2812Lys) c.7987G>A (p.Glu2663Lys) c.7324G>A (p.Glu2442Lys) c.11839G>A (p.Glu3947Lys) | |
| 5 | g.13708225A>C | CA443251250 | DNAH5 | n.569T>G c.13236T>G (p.Thr4412=) c.13191T>G (p.Thr4397=) c.13344T>G (p.Thr4448=) c.12924T>G (p.Thr4308=) c.12249T>G (p.Thr4083=) c.8433T>G (p.Thr2811=) c.7986T>G (p.Thr2662=) c.7323T>G (p.Thr2441=) c.11838T>G (p.Thr3946=) | |
| 5 | g.13708225A>G | CA443251252 | DNAH5 | n.569T>C c.13236T>C (p.Thr4412=) c.13191T>C (p.Thr4397=) c.13344T>C (p.Thr4448=) c.12924T>C (p.Thr4308=) c.12249T>C (p.Thr4083=) c.8433T>C (p.Thr2811=) c.7986T>C (p.Thr2662=) c.7323T>C (p.Thr2441=) c.11838T>C (p.Thr3946=) | |
| 5 | g.13708225A>T | CA443251253 | DNAH5 | n.569T>A c.13236T>A (p.Thr4412=) c.13191T>A (p.Thr4397=) c.13344T>A (p.Thr4448=) c.12924T>A (p.Thr4308=) c.12249T>A (p.Thr4083=) c.8433T>A (p.Thr2811=) c.7986T>A (p.Thr2662=) c.7323T>A (p.Thr2441=) c.11838T>A (p.Thr3946=) | |
| 5 | g.13708226G>A | CA359197092 | DNAH5 | n.568C>T c.13235C>T (p.Thr4412Ile) c.13190C>T (p.Thr4397Ile) c.13343C>T (p.Thr4448Ile) c.12923C>T (p.Thr4308Ile) c.12248C>T (p.Thr4083Ile) c.8432C>T (p.Thr2811Ile) c.7985C>T (p.Thr2662Ile) c.7322C>T (p.Thr2441Ile) c.11837C>T (p.Thr3946Ile) | |
| 5 | g.13708226G>C | CA359197097 | DNAH5 | n.568C>G c.13235C>G (p.Thr4412Ser) c.13190C>G (p.Thr4397Ser) c.13343C>G (p.Thr4448Ser) c.12923C>G (p.Thr4308Ser) c.12248C>G (p.Thr4083Ser) c.8432C>G (p.Thr2811Ser) c.7985C>G (p.Thr2662Ser) c.7322C>G (p.Thr2441Ser) c.11837C>G (p.Thr3946Ser) | |
| 5 | g.13708226G>T | CA359197101 | DNAH5 | n.568C>A c.13235C>A (p.Thr4412Asn) c.13190C>A (p.Thr4397Asn) c.13343C>A (p.Thr4448Asn) c.12923C>A (p.Thr4308Asn) c.12248C>A (p.Thr4083Asn) c.8432C>A (p.Thr2811Asn) c.7985C>A (p.Thr2662Asn) c.7322C>A (p.Thr2441Asn) c.11837C>A (p.Thr3946Asn) | |
| 5 | g.13708227T>A | CA359197108 | DNAH5 | n.567A>T c.13234A>T (p.Thr4412Ser) c.13189A>T (p.Thr4397Ser) c.13342A>T (p.Thr4448Ser) c.12922A>T (p.Thr4308Ser) c.12247A>T (p.Thr4083Ser) c.8431A>T (p.Thr2811Ser) c.7984A>T (p.Thr2662Ser) c.7321A>T (p.Thr2441Ser) c.11836A>T (p.Thr3946Ser) | |
| 5 | g.13708227T>C | CA359197110 | DNAH5 | n.567A>G c.13234A>G (p.Thr4412Ala) c.13189A>G (p.Thr4397Ala) c.13342A>G (p.Thr4448Ala) c.12922A>G (p.Thr4308Ala) c.12247A>G (p.Thr4083Ala) c.8431A>G (p.Thr2811Ala) c.7984A>G (p.Thr2662Ala) c.7321A>G (p.Thr2441Ala) c.11836A>G (p.Thr3946Ala) | gnomAD v4 |
| 5 | g.13708227T>G | CA359197117 | DNAH5 | n.567A>C c.13234A>C (p.Thr4412Pro) c.13189A>C (p.Thr4397Pro) c.13342A>C (p.Thr4448Pro) c.12922A>C (p.Thr4308Pro) c.12247A>C (p.Thr4083Pro) c.8431A>C (p.Thr2811Pro) c.7984A>C (p.Thr2662Pro) c.7321A>C (p.Thr2441Pro) c.11836A>C (p.Thr3946Pro) | |
| 5 | g.13708228G>A | CA443251258 | DNAH5 | n.566C>T c.13233C>T (p.Leu4411=) c.13188C>T (p.Leu4396=) c.13341C>T (p.Leu4447=) c.12921C>T (p.Leu4307=) c.12246C>T (p.Leu4082=) c.8430C>T (p.Leu2810=) c.7983C>T (p.Leu2661=) c.7320C>T (p.Leu2440=) c.11835C>T (p.Leu3945=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.13708228G>C | CA443251256 | DNAH5 | n.566C>G c.13233C>G (p.Leu4411=) c.13188C>G (p.Leu4396=) c.13341C>G (p.Leu4447=) c.12921C>G (p.Leu4307=) c.12246C>G (p.Leu4082=) c.8430C>G (p.Leu2810=) c.7983C>G (p.Leu2661=) c.7320C>G (p.Leu2440=) c.11835C>G (p.Leu3945=) | |
| 5 | g.13708228G>T | CA443251255 | DNAH5 | n.566C>A c.13233C>A (p.Leu4411=) c.13188C>A (p.Leu4396=) c.13341C>A (p.Leu4447=) c.12921C>A (p.Leu4307=) c.12246C>A (p.Leu4082=) c.8430C>A (p.Leu2810=) c.7983C>A (p.Leu2661=) c.7320C>A (p.Leu2440=) c.11835C>A (p.Leu3945=) | |
| 5 | g.13708229A>C | CA359197124 | DNAH5 | n.565T>G c.13232T>G (p.Leu4411Arg) c.13187T>G (p.Leu4396Arg) c.13340T>G (p.Leu4447Arg) c.12920T>G (p.Leu4307Arg) c.12245T>G (p.Leu4082Arg) c.8429T>G (p.Leu2810Arg) c.7982T>G (p.Leu2661Arg) c.7319T>G (p.Leu2440Arg) c.11834T>G (p.Leu3945Arg) | |
| 5 | g.13708229A>G | CA359197125 | DNAH5 | n.565T>C c.13232T>C (p.Leu4411Pro) c.13187T>C (p.Leu4396Pro) c.13340T>C (p.Leu4447Pro) c.12920T>C (p.Leu4307Pro) c.12245T>C (p.Leu4082Pro) c.8429T>C (p.Leu2810Pro) c.7982T>C (p.Leu2661Pro) c.7319T>C (p.Leu2440Pro) c.11834T>C (p.Leu3945Pro) | ClinVar |
| 5 | g.13708229A>T | CA359197127 | DNAH5 | n.565T>A c.13232T>A (p.Leu4411His) c.13187T>A (p.Leu4396His) c.13340T>A (p.Leu4447His) c.12920T>A (p.Leu4307His) c.12245T>A (p.Leu4082His) c.8429T>A (p.Leu2810His) c.7982T>A (p.Leu2661His) c.7319T>A (p.Leu2440His) c.11834T>A (p.Leu3945His) | |
| 5 | g.13708230G>A | CA113911018 | DNAH5 | n.564C>T c.13231C>T (p.Leu4411Phe) c.13186C>T (p.Leu4396Phe) c.13339C>T (p.Leu4447Phe) c.12919C>T (p.Leu4307Phe) c.12244C>T (p.Leu4082Phe) c.8428C>T (p.Leu2810Phe) c.7981C>T (p.Leu2661Phe) c.7318C>T (p.Leu2440Phe) c.11833C>T (p.Leu3945Phe) | dbSNP gnomAD v4 |
| 5 | g.13708230G>C | CA359197135 | DNAH5 | n.564C>G c.13231C>G (p.Leu4411Val) c.13186C>G (p.Leu4396Val) c.13339C>G (p.Leu4447Val) c.12919C>G (p.Leu4307Val) c.12244C>G (p.Leu4082Val) c.8428C>G (p.Leu2810Val) c.7981C>G (p.Leu2661Val) c.7318C>G (p.Leu2440Val) c.11833C>G (p.Leu3945Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13708230G= | CA1528403769 | DNAH5 | n.564C= c.13231C= (p.Leu4411=) c.13186C= (p.Leu4396=) c.13339C= (p.Leu4447=) c.12919C= (p.Leu4307=) c.12244C= (p.Leu4082=) c.8428C= (p.Leu2810=) c.7981C= (p.Leu2661=) c.7318C= (p.Leu2440=) c.11833C= (p.Leu3945=) | |
| 5 | g.13708230G>T | CA359197146 | DNAH5 | n.564C>A c.13231C>A (p.Leu4411Ile) c.13186C>A (p.Leu4396Ile) c.13339C>A (p.Leu4447Ile) c.12919C>A (p.Leu4307Ile) c.12244C>A (p.Leu4082Ile) c.8428C>A (p.Leu2810Ile) c.7981C>A (p.Leu2661Ile) c.7318C>A (p.Leu2440Ile) c.11833C>A (p.Leu3945Ile) | |
| 5 | g.13708231G>A | CA443251265 | DNAH5 | n.563C>T c.13230C>T (p.Thr4410=) c.13185C>T (p.Thr4395=) c.13338C>T (p.Thr4446=) c.12918C>T (p.Thr4306=) c.12243C>T (p.Thr4081=) c.8427C>T (p.Thr2809=) c.7980C>T (p.Thr2660=) c.7317C>T (p.Thr2439=) c.11832C>T (p.Thr3944=) | dbSNP gnomAD v4 COSMIC |
| 5 | g.13708231G>C | CA443251264 | DNAH5 | n.563C>G c.13230C>G (p.Thr4410=) c.13185C>G (p.Thr4395=) c.13338C>G (p.Thr4446=) c.12918C>G (p.Thr4306=) c.12243C>G (p.Thr4081=) c.8427C>G (p.Thr2809=) c.7980C>G (p.Thr2660=) c.7317C>G (p.Thr2439=) c.11832C>G (p.Thr3944=) | |
| 5 | g.13708231G= | CA1528403770 | DNAH5 | n.563C= c.13230C= (p.Thr4410=) c.13185C= (p.Thr4395=) c.13338C= (p.Thr4446=) c.12918C= (p.Thr4306=) c.12243C= (p.Thr4081=) c.8427C= (p.Thr2809=) c.7980C= (p.Thr2660=) c.7317C= (p.Thr2439=) c.11832C= (p.Thr3944=) | |
| 5 | g.13708231G>T | CA443251263 | DNAH5 | n.563C>A c.13230C>A (p.Thr4410=) c.13185C>A (p.Thr4395=) c.13338C>A (p.Thr4446=) c.12918C>A (p.Thr4306=) c.12243C>A (p.Thr4081=) c.8427C>A (p.Thr2809=) c.7980C>A (p.Thr2660=) c.7317C>A (p.Thr2439=) c.11832C>A (p.Thr3944=) | ClinVar dbSNP |
| 5 | g.13708232G>A | CA359197161 | DNAH5 | n.562C>T c.13229C>T (p.Thr4410Ile) c.13184C>T (p.Thr4395Ile) c.13337C>T (p.Thr4446Ile) c.12917C>T (p.Thr4306Ile) c.12242C>T (p.Thr4081Ile) c.8426C>T (p.Thr2809Ile) c.7979C>T (p.Thr2660Ile) c.7316C>T (p.Thr2439Ile) c.11831C>T (p.Thr3944Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13708232G>C | CA3201416 | DNAH5 | n.562C>G c.13229C>G (p.Thr4410Ser) c.13184C>G (p.Thr4395Ser) c.13337C>G (p.Thr4446Ser) c.12917C>G (p.Thr4306Ser) c.12242C>G (p.Thr4081Ser) c.8426C>G (p.Thr2809Ser) c.7979C>G (p.Thr2660Ser) c.7316C>G (p.Thr2439Ser) c.11831C>G (p.Thr3944Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708232G= | CA1528403771 | DNAH5 | n.562C= c.13229C= (p.Thr4410=) c.13184C= (p.Thr4395=) c.13337C= (p.Thr4446=) c.12917C= (p.Thr4306=) c.12242C= (p.Thr4081=) c.8426C= (p.Thr2809=) c.7979C= (p.Thr2660=) c.7316C= (p.Thr2439=) c.11831C= (p.Thr3944=) | |
| 5 | g.13708232G>T | CA359197156 | DNAH5 | n.562C>A c.13229C>A (p.Thr4410Asn) c.13184C>A (p.Thr4395Asn) c.13337C>A (p.Thr4446Asn) c.12917C>A (p.Thr4306Asn) c.12242C>A (p.Thr4081Asn) c.8426C>A (p.Thr2809Asn) c.7979C>A (p.Thr2660Asn) c.7316C>A (p.Thr2439Asn) c.11831C>A (p.Thr3944Asn) | |
| 5 | g.13708233T>A | CA359197190 | DNAH5 | n.561A>T c.13228A>T (p.Thr4410Ser) c.13183A>T (p.Thr4395Ser) c.13336A>T (p.Thr4446Ser) c.12916A>T (p.Thr4306Ser) c.12241A>T (p.Thr4081Ser) c.8425A>T (p.Thr2809Ser) c.7978A>T (p.Thr2660Ser) c.7315A>T (p.Thr2439Ser) c.11830A>T (p.Thr3944Ser) | |
| 5 | g.13708233T>C | CA359197184 | DNAH5 | n.561A>G c.13228A>G (p.Thr4410Ala) c.13183A>G (p.Thr4395Ala) c.13336A>G (p.Thr4446Ala) c.12916A>G (p.Thr4306Ala) c.12241A>G (p.Thr4081Ala) c.8425A>G (p.Thr2809Ala) c.7978A>G (p.Thr2660Ala) c.7315A>G (p.Thr2439Ala) c.11830A>G (p.Thr3944Ala) | gnomAD v4 |
| 5 | g.13708233T>G | CA359197188 | DNAH5 | n.561A>C c.13228A>C (p.Thr4410Pro) c.13183A>C (p.Thr4395Pro) c.13336A>C (p.Thr4446Pro) c.12916A>C (p.Thr4306Pro) c.12241A>C (p.Thr4081Pro) c.8425A>C (p.Thr2809Pro) c.7978A>C (p.Thr2660Pro) c.7315A>C (p.Thr2439Pro) c.11830A>C (p.Thr3944Pro) | |
| 5 | g.13708234G>A | CA443251268 | DNAH5 | n.560C>T c.13227C>T (p.Ser4409=) c.13182C>T (p.Ser4394=) c.13335C>T (p.Ser4445=) c.12915C>T (p.Ser4305=) c.12240C>T (p.Ser4080=) c.8424C>T (p.Ser2808=) c.7977C>T (p.Ser2659=) c.7314C>T (p.Ser2438=) c.11829C>T (p.Ser3943=) | gnomAD v4 |
| 5 | g.13708234G>C | CA359197195 | DNAH5 | n.560C>G c.13227C>G (p.Ser4409Arg) c.13182C>G (p.Ser4394Arg) c.13335C>G (p.Ser4445Arg) c.12915C>G (p.Ser4305Arg) c.12240C>G (p.Ser4080Arg) c.8424C>G (p.Ser2808Arg) c.7977C>G (p.Ser2659Arg) c.7314C>G (p.Ser2438Arg) c.11829C>G (p.Ser3943Arg) | |
| 5 | g.13708234G= | CA1528403772 | DNAH5 | n.560C= c.13227C= (p.Ser4409=) c.13182C= (p.Ser4394=) c.13335C= (p.Ser4445=) c.12915C= (p.Ser4305=) c.12240C= (p.Ser4080=) c.8424C= (p.Ser2808=) c.7977C= (p.Ser2659=) c.7314C= (p.Ser2438=) c.11829C= (p.Ser3943=) | |
| 5 | g.13708234G>T | CA3201417 | DNAH5 | n.560C>A c.13227C>A (p.Ser4409Arg) c.13182C>A (p.Ser4394Arg) c.13335C>A (p.Ser4445Arg) c.12915C>A (p.Ser4305Arg) c.12240C>A (p.Ser4080Arg) c.8424C>A (p.Ser2808Arg) c.7977C>A (p.Ser2659Arg) c.7314C>A (p.Ser2438Arg) c.11829C>A (p.Ser3943Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708235C>A | CA359197200 | DNAH5 | n.559G>T c.13226G>T (p.Ser4409Ile) c.13181G>T (p.Ser4394Ile) c.13334G>T (p.Ser4445Ile) c.12914G>T (p.Ser4305Ile) c.12239G>T (p.Ser4080Ile) c.8423G>T (p.Ser2808Ile) c.7976G>T (p.Ser2659Ile) c.7313G>T (p.Ser2438Ile) c.11828G>T (p.Ser3943Ile) | |
| 5 | g.13708235C>G | CA359197203 | DNAH5 | n.559G>C c.13226G>C (p.Ser4409Thr) c.13181G>C (p.Ser4394Thr) c.13334G>C (p.Ser4445Thr) c.12914G>C (p.Ser4305Thr) c.12239G>C (p.Ser4080Thr) c.8423G>C (p.Ser2808Thr) c.7976G>C (p.Ser2659Thr) c.7313G>C (p.Ser2438Thr) c.11828G>C (p.Ser3943Thr) | |
| 5 | g.13708235C>T | CA359197209 | DNAH5 | n.559G>A c.13226G>A (p.Ser4409Asn) c.13181G>A (p.Ser4394Asn) c.13334G>A (p.Ser4445Asn) c.12914G>A (p.Ser4305Asn) c.12239G>A (p.Ser4080Asn) c.8423G>A (p.Ser2808Asn) c.7976G>A (p.Ser2659Asn) c.7313G>A (p.Ser2438Asn) c.11828G>A (p.Ser3943Asn) | |
| 5 | g.13708236T>A | CA359197215 | DNAH5 | n.558A>T c.13225A>T (p.Ser4409Cys) c.13180A>T (p.Ser4394Cys) c.13333A>T (p.Ser4445Cys) c.12913A>T (p.Ser4305Cys) c.12238A>T (p.Ser4080Cys) c.8422A>T (p.Ser2808Cys) c.7975A>T (p.Ser2659Cys) c.7312A>T (p.Ser2438Cys) c.11827A>T (p.Ser3943Cys) | |
| 5 | g.13708236T>C | CA359197219 | DNAH5 | n.558A>G c.13225A>G (p.Ser4409Gly) c.13180A>G (p.Ser4394Gly) c.13333A>G (p.Ser4445Gly) c.12913A>G (p.Ser4305Gly) c.12238A>G (p.Ser4080Gly) c.8422A>G (p.Ser2808Gly) c.7975A>G (p.Ser2659Gly) c.7312A>G (p.Ser2438Gly) c.11827A>G (p.Ser3943Gly) | gnomAD v4 |
| 5 | g.13708236T>G | CA359197223 | DNAH5 | n.558A>C c.13225A>C (p.Ser4409Arg) c.13180A>C (p.Ser4394Arg) c.13333A>C (p.Ser4445Arg) c.12913A>C (p.Ser4305Arg) c.12238A>C (p.Ser4080Arg) c.8422A>C (p.Ser2808Arg) c.7975A>C (p.Ser2659Arg) c.7312A>C (p.Ser2438Arg) c.11827A>C (p.Ser3943Arg) | |
| 5 | g.13708237G>A | CA443251276 | DNAH5 | n.557C>T c.13224C>T (p.Arg4408=) c.13179C>T (p.Arg4393=) c.13332C>T (p.Arg4444=) c.12912C>T (p.Arg4304=) c.12237C>T (p.Arg4079=) c.8421C>T (p.Arg2807=) c.7974C>T (p.Arg2658=) c.7311C>T (p.Arg2437=) c.11826C>T (p.Arg3942=) | |
| 5 | g.13708237G>C | CA443251277 | DNAH5 | n.557C>G c.13224C>G (p.Arg4408=) c.13179C>G (p.Arg4393=) c.13332C>G (p.Arg4444=) c.12912C>G (p.Arg4304=) c.12237C>G (p.Arg4079=) c.8421C>G (p.Arg2807=) c.7974C>G (p.Arg2658=) c.7311C>G (p.Arg2437=) c.11826C>G (p.Arg3942=) | |
| 5 | g.13708237G>T | CA443251278 | DNAH5 | n.557C>A c.13224C>A (p.Arg4408=) c.13179C>A (p.Arg4393=) c.13332C>A (p.Arg4444=) c.12912C>A (p.Arg4304=) c.12237C>A (p.Arg4079=) c.8421C>A (p.Arg2807=) c.7974C>A (p.Arg2658=) c.7311C>A (p.Arg2437=) c.11826C>A (p.Arg3942=) | |
| 5 | g.13708238C>A | CA359197228 | DNAH5 | n.556G>T c.13223G>T (p.Arg4408Leu) c.13178G>T (p.Arg4393Leu) c.13331G>T (p.Arg4444Leu) c.12911G>T (p.Arg4304Leu) c.12236G>T (p.Arg4079Leu) c.8420G>T (p.Arg2807Leu) c.7973G>T (p.Arg2658Leu) c.7310G>T (p.Arg2437Leu) c.11825G>T (p.Arg3942Leu) | gnomAD v4 |
| 5 | g.13708238C= | CA1528403773 | DNAH5 | n.556G= c.13223G= (p.Arg4408=) c.13178G= (p.Arg4393=) c.13331G= (p.Arg4444=) c.12911G= (p.Arg4304=) c.12236G= (p.Arg4079=) c.8420G= (p.Arg2807=) c.7973G= (p.Arg2658=) c.7310G= (p.Arg2437=) c.11825G= (p.Arg3942=) | |
| 5 | g.13708238C>G | CA359197229 | DNAH5 | n.556G>C c.13223G>C (p.Arg4408Pro) c.13178G>C (p.Arg4393Pro) c.13331G>C (p.Arg4444Pro) c.12911G>C (p.Arg4304Pro) c.12236G>C (p.Arg4079Pro) c.8420G>C (p.Arg2807Pro) c.7973G>C (p.Arg2658Pro) c.7310G>C (p.Arg2437Pro) c.11825G>C (p.Arg3942Pro) | |
| 5 | g.13708238C>T | CA3201418 | DNAH5 | n.556G>A c.13223G>A (p.Arg4408His) c.13178G>A (p.Arg4393His) c.13331G>A (p.Arg4444His) c.12911G>A (p.Arg4304His) c.12236G>A (p.Arg4079His) c.8420G>A (p.Arg2807His) c.7973G>A (p.Arg2658His) c.7310G>A (p.Arg2437His) c.11825G>A (p.Arg3942His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708239G>A | CA3201419 | DNAH5 | n.555C>T c.13222C>T (p.Arg4408Cys) c.13177C>T (p.Arg4393Cys) c.13330C>T (p.Arg4444Cys) c.12910C>T (p.Arg4304Cys) c.12235C>T (p.Arg4079Cys) c.8419C>T (p.Arg2807Cys) c.7972C>T (p.Arg2658Cys) c.7309C>T (p.Arg2437Cys) c.11824C>T (p.Arg3942Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708239G>C | CA3201420 | DNAH5 | n.555C>G c.13222C>G (p.Arg4408Gly) c.13177C>G (p.Arg4393Gly) c.13330C>G (p.Arg4444Gly) c.12910C>G (p.Arg4304Gly) c.12235C>G (p.Arg4079Gly) c.8419C>G (p.Arg2807Gly) c.7972C>G (p.Arg2658Gly) c.7309C>G (p.Arg2437Gly) c.11824C>G (p.Arg3942Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708239G= | CA1528403774 | DNAH5 | n.555C= c.13222C= (p.Arg4408=) c.13177C= (p.Arg4393=) c.13330C= (p.Arg4444=) c.12910C= (p.Arg4304=) c.12235C= (p.Arg4079=) c.8419C= (p.Arg2807=) c.7972C= (p.Arg2658=) c.7309C= (p.Arg2437=) c.11824C= (p.Arg3942=) | |
| 5 | g.13708239G>T | CA359197232 | DNAH5 | n.555C>A c.13222C>A (p.Arg4408Ser) c.13177C>A (p.Arg4393Ser) c.13330C>A (p.Arg4444Ser) c.12910C>A (p.Arg4304Ser) c.12235C>A (p.Arg4079Ser) c.8419C>A (p.Arg2807Ser) c.7972C>A (p.Arg2658Ser) c.7309C>A (p.Arg2437Ser) c.11824C>A (p.Arg3942Ser) | |
| 5 | g.13708240G>A | CA443251285 | DNAH5 | n.554C>T c.13221C>T (p.Val4407=) c.13176C>T (p.Val4392=) c.13329C>T (p.Val4443=) c.12909C>T (p.Val4303=) c.12234C>T (p.Val4078=) c.8418C>T (p.Val2806=) c.7971C>T (p.Val2657=) c.7308C>T (p.Val2436=) c.11823C>T (p.Val3941=) | ClinVar gnomAD v4 |
| 5 | g.13708240G>C | CA443251286 | DNAH5 | n.554C>G c.13221C>G (p.Val4407=) c.13176C>G (p.Val4392=) c.13329C>G (p.Val4443=) c.12909C>G (p.Val4303=) c.12234C>G (p.Val4078=) c.8418C>G (p.Val2806=) c.7971C>G (p.Val2657=) c.7308C>G (p.Val2436=) c.11823C>G (p.Val3941=) | |
| 5 | g.13708240G>T | CA443251287 | DNAH5 | n.554C>A c.13221C>A (p.Val4407=) c.13176C>A (p.Val4392=) c.13329C>A (p.Val4443=) c.12909C>A (p.Val4303=) c.12234C>A (p.Val4078=) c.8418C>A (p.Val2806=) c.7971C>A (p.Val2657=) c.7308C>A (p.Val2436=) c.11823C>A (p.Val3941=) | |
| 5 | g.13708241A>C | CA359197245 | DNAH5 | n.553T>G c.13220T>G (p.Val4407Gly) c.13175T>G (p.Val4392Gly) c.13328T>G (p.Val4443Gly) c.12908T>G (p.Val4303Gly) c.12233T>G (p.Val4078Gly) c.8417T>G (p.Val2806Gly) c.7970T>G (p.Val2657Gly) c.7307T>G (p.Val2436Gly) c.11822T>G (p.Val3941Gly) | |
| 5 | g.13708241A>G | CA359197249 | DNAH5 | n.553T>C c.13220T>C (p.Val4407Ala) c.13175T>C (p.Val4392Ala) c.13328T>C (p.Val4443Ala) c.12908T>C (p.Val4303Ala) c.12233T>C (p.Val4078Ala) c.8417T>C (p.Val2806Ala) c.7970T>C (p.Val2657Ala) c.7307T>C (p.Val2436Ala) c.11822T>C (p.Val3941Ala) | gnomAD v4 |
| 5 | g.13708241A>T | CA359197253 | DNAH5 | n.553T>A c.13220T>A (p.Val4407Asp) c.13175T>A (p.Val4392Asp) c.13328T>A (p.Val4443Asp) c.12908T>A (p.Val4303Asp) c.12233T>A (p.Val4078Asp) c.8417T>A (p.Val2806Asp) c.7970T>A (p.Val2657Asp) c.7307T>A (p.Val2436Asp) c.11822T>A (p.Val3941Asp) | |
| 5 | g.13708242C>A | CA359197272 | DNAH5 | n.552G>T c.13219G>T (p.Val4407Phe) c.13174G>T (p.Val4392Phe) c.13327G>T (p.Val4443Phe) c.12907G>T (p.Val4303Phe) c.12232G>T (p.Val4078Phe) c.8416G>T (p.Val2806Phe) c.7969G>T (p.Val2657Phe) c.7306G>T (p.Val2436Phe) c.11821G>T (p.Val3941Phe) | |
| 5 | g.13708242C>G | CA359197280 | DNAH5 | n.552G>C c.13219G>C (p.Val4407Leu) c.13174G>C (p.Val4392Leu) c.13327G>C (p.Val4443Leu) c.12907G>C (p.Val4303Leu) c.12232G>C (p.Val4078Leu) c.8416G>C (p.Val2806Leu) c.7969G>C (p.Val2657Leu) c.7306G>C (p.Val2436Leu) c.11821G>C (p.Val3941Leu) | |
| 5 | g.13708242C>T | CA359197283 | DNAH5 | n.552G>A c.13219G>A (p.Val4407Ile) c.13174G>A (p.Val4392Ile) c.13327G>A (p.Val4443Ile) c.12907G>A (p.Val4303Ile) c.12232G>A (p.Val4078Ile) c.8416G>A (p.Val2806Ile) c.7969G>A (p.Val2657Ile) c.7306G>A (p.Val2436Ile) c.11821G>A (p.Val3941Ile) | gnomAD v4 |
| 5 | g.13708243A>C | CA443251291 | DNAH5 | n.551T>G c.13218T>G (p.Leu4406=) c.13173T>G (p.Leu4391=) c.13326T>G (p.Leu4442=) c.12906T>G (p.Leu4302=) c.12231T>G (p.Leu4077=) c.8415T>G (p.Leu2805=) c.7968T>G (p.Leu2656=) c.7305T>G (p.Leu2435=) c.11820T>G (p.Leu3940=) | |
| 5 | g.13708243A>G | CA443251292 | DNAH5 | n.551T>C c.13218T>C (p.Leu4406=) c.13173T>C (p.Leu4391=) c.13326T>C (p.Leu4442=) c.12906T>C (p.Leu4302=) c.12231T>C (p.Leu4077=) c.8415T>C (p.Leu2805=) c.7968T>C (p.Leu2656=) c.7305T>C (p.Leu2435=) c.11820T>C (p.Leu3940=) | |
| 5 | g.13708243A>T | CA443251293 | DNAH5 | n.551T>A c.13218T>A (p.Leu4406=) c.13173T>A (p.Leu4391=) c.13326T>A (p.Leu4442=) c.12906T>A (p.Leu4302=) c.12231T>A (p.Leu4077=) c.8415T>A (p.Leu2805=) c.7968T>A (p.Leu2656=) c.7305T>A (p.Leu2435=) c.11820T>A (p.Leu3940=) | |
| 5 | g.13708244A>C | CA359197287 | DNAH5 | n.550T>G c.13217T>G (p.Leu4406Arg) c.13172T>G (p.Leu4391Arg) c.13325T>G (p.Leu4442Arg) c.12905T>G (p.Leu4302Arg) c.12230T>G (p.Leu4077Arg) c.8414T>G (p.Leu2805Arg) c.7967T>G (p.Leu2656Arg) c.7304T>G (p.Leu2435Arg) c.11819T>G (p.Leu3940Arg) | |
| 5 | g.13708244A>G | CA359197288 | DNAH5 | n.550T>C c.13217T>C (p.Leu4406Pro) c.13172T>C (p.Leu4391Pro) c.13325T>C (p.Leu4442Pro) c.12905T>C (p.Leu4302Pro) c.12230T>C (p.Leu4077Pro) c.8414T>C (p.Leu2805Pro) c.7967T>C (p.Leu2656Pro) c.7304T>C (p.Leu2435Pro) c.11819T>C (p.Leu3940Pro) | |
| 5 | g.13708244A>T | CA359197289 | DNAH5 | n.550T>A c.13217T>A (p.Leu4406His) c.13172T>A (p.Leu4391His) c.13325T>A (p.Leu4442His) c.12905T>A (p.Leu4302His) c.12230T>A (p.Leu4077His) c.8414T>A (p.Leu2805His) c.7967T>A (p.Leu2656His) c.7304T>A (p.Leu2435His) c.11819T>A (p.Leu3940His) | COSMIC |
| 5 | g.13708245G>A | CA359197291 | DNAH5 | n.549C>T c.13216C>T (p.Leu4406Phe) c.13171C>T (p.Leu4391Phe) c.13324C>T (p.Leu4442Phe) c.12904C>T (p.Leu4302Phe) c.12229C>T (p.Leu4077Phe) c.8413C>T (p.Leu2805Phe) c.7966C>T (p.Leu2656Phe) c.7303C>T (p.Leu2435Phe) c.11818C>T (p.Leu3940Phe) | dbSNP gnomAD v4 |
| 5 | g.13708245G>C | CA359197297 | DNAH5 | n.549C>G c.13216C>G (p.Leu4406Val) c.13171C>G (p.Leu4391Val) c.13324C>G (p.Leu4442Val) c.12904C>G (p.Leu4302Val) c.12229C>G (p.Leu4077Val) c.8413C>G (p.Leu2805Val) c.7966C>G (p.Leu2656Val) c.7303C>G (p.Leu2435Val) c.11818C>G (p.Leu3940Val) | |
| 5 | g.13708245G= | CA1528403775 | DNAH5 | n.549C= c.13216C= (p.Leu4406=) c.13171C= (p.Leu4391=) c.13324C= (p.Leu4442=) c.12904C= (p.Leu4302=) c.12229C= (p.Leu4077=) c.8413C= (p.Leu2805=) c.7966C= (p.Leu2656=) c.7303C= (p.Leu2435=) c.11818C= (p.Leu3940=) | |
| 5 | g.13708245G>T | CA359197304 | DNAH5 | n.549C>A c.13216C>A (p.Leu4406Ile) c.13171C>A (p.Leu4391Ile) c.13324C>A (p.Leu4442Ile) c.12904C>A (p.Leu4302Ile) c.12229C>A (p.Leu4077Ile) c.8413C>A (p.Leu2805Ile) c.7966C>A (p.Leu2656Ile) c.7303C>A (p.Leu2435Ile) c.11818C>A (p.Leu3940Ile) | dbSNP gnomAD v2 |
| 5 | g.13708246G>A | CA443251300 | DNAH5 | n.548C>T c.13215C>T (p.Ser4405=) c.13170C>T (p.Ser4390=) c.13323C>T (p.Ser4441=) c.12903C>T (p.Ser4301=) c.12228C>T (p.Ser4076=) c.8412C>T (p.Ser2804=) c.7965C>T (p.Ser2655=) c.7302C>T (p.Ser2434=) c.11817C>T (p.Ser3939=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708246G>C | CA359197318 | DNAH5 | n.548C>G c.13215C>G (p.Ser4405Arg) c.13170C>G (p.Ser4390Arg) c.13323C>G (p.Ser4441Arg) c.12903C>G (p.Ser4301Arg) c.12228C>G (p.Ser4076Arg) c.8412C>G (p.Ser2804Arg) c.7965C>G (p.Ser2655Arg) c.7302C>G (p.Ser2434Arg) c.11817C>G (p.Ser3939Arg) | |
| 5 | g.13708246G= | CA1528403776 | DNAH5 | n.548C= c.13215C= (p.Ser4405=) c.13170C= (p.Ser4390=) c.13323C= (p.Ser4441=) c.12903C= (p.Ser4301=) c.12228C= (p.Ser4076=) c.8412C= (p.Ser2804=) c.7965C= (p.Ser2655=) c.7302C= (p.Ser2434=) c.11817C= (p.Ser3939=) | |
| 5 | g.13708246G>T | CA359197314 | DNAH5 | n.548C>A c.13215C>A (p.Ser4405Arg) c.13170C>A (p.Ser4390Arg) c.13323C>A (p.Ser4441Arg) c.12903C>A (p.Ser4301Arg) c.12228C>A (p.Ser4076Arg) c.8412C>A (p.Ser2804Arg) c.7965C>A (p.Ser2655Arg) c.7302C>A (p.Ser2434Arg) c.11817C>A (p.Ser3939Arg) | |
| 5 | g.13708247C>A | CA359197321 | DNAH5 | n.547G>T c.13214G>T (p.Ser4405Ile) c.13169G>T (p.Ser4390Ile) c.13322G>T (p.Ser4441Ile) c.12902G>T (p.Ser4301Ile) c.12227G>T (p.Ser4076Ile) c.8411G>T (p.Ser2804Ile) c.7964G>T (p.Ser2655Ile) c.7301G>T (p.Ser2434Ile) c.11816G>T (p.Ser3939Ile) | |
| 5 | g.13708247C>G | CA359197325 | DNAH5 | n.547G>C c.13214G>C (p.Ser4405Thr) c.13169G>C (p.Ser4390Thr) c.13322G>C (p.Ser4441Thr) c.12902G>C (p.Ser4301Thr) c.12227G>C (p.Ser4076Thr) c.8411G>C (p.Ser2804Thr) c.7964G>C (p.Ser2655Thr) c.7301G>C (p.Ser2434Thr) c.11816G>C (p.Ser3939Thr) | |
| 5 | g.13708247C>T | CA359197333 | DNAH5 | n.547G>A c.13214G>A (p.Ser4405Asn) c.13169G>A (p.Ser4390Asn) c.13322G>A (p.Ser4441Asn) c.12902G>A (p.Ser4301Asn) c.12227G>A (p.Ser4076Asn) c.8411G>A (p.Ser2804Asn) c.7964G>A (p.Ser2655Asn) c.7301G>A (p.Ser2434Asn) c.11816G>A (p.Ser3939Asn) | |
| 5 | g.13708248T>A | CA359197341 | DNAH5 | n.546A>T c.13213A>T (p.Ser4405Cys) c.13168A>T (p.Ser4390Cys) c.13321A>T (p.Ser4441Cys) c.12901A>T (p.Ser4301Cys) c.12226A>T (p.Ser4076Cys) c.8410A>T (p.Ser2804Cys) c.7963A>T (p.Ser2655Cys) c.7300A>T (p.Ser2434Cys) c.11815A>T (p.Ser3939Cys) | |
| 5 | g.13708248T>C | CA359197347 | DNAH5 | n.546A>G c.13213A>G (p.Ser4405Gly) c.13168A>G (p.Ser4390Gly) c.13321A>G (p.Ser4441Gly) c.12901A>G (p.Ser4301Gly) c.12226A>G (p.Ser4076Gly) c.8410A>G (p.Ser2804Gly) c.7963A>G (p.Ser2655Gly) c.7300A>G (p.Ser2434Gly) c.11815A>G (p.Ser3939Gly) | |
| 5 | g.13708248T>G | CA359197350 | DNAH5 | n.546A>C c.13213A>C (p.Ser4405Arg) c.13168A>C (p.Ser4390Arg) c.13321A>C (p.Ser4441Arg) c.12901A>C (p.Ser4301Arg) c.12226A>C (p.Ser4076Arg) c.8410A>C (p.Ser2804Arg) c.7963A>C (p.Ser2655Arg) c.7300A>C (p.Ser2434Arg) c.11815A>C (p.Ser3939Arg) | |
| 5 | g.13708249G>A | CA443251305 | DNAH5 | n.545C>T c.13212C>T (p.Leu4404=) c.13167C>T (p.Leu4389=) c.13320C>T (p.Leu4440=) c.12900C>T (p.Leu4300=) c.12225C>T (p.Leu4075=) c.8409C>T (p.Leu2803=) c.7962C>T (p.Leu2654=) c.7299C>T (p.Leu2433=) c.11814C>T (p.Leu3938=) | gnomAD v4 |
| 5 | g.13708249G>C | CA443251306 | DNAH5 | n.545C>G c.13212C>G (p.Leu4404=) c.13167C>G (p.Leu4389=) c.13320C>G (p.Leu4440=) c.12900C>G (p.Leu4300=) c.12225C>G (p.Leu4075=) c.8409C>G (p.Leu2803=) c.7962C>G (p.Leu2654=) c.7299C>G (p.Leu2433=) c.11814C>G (p.Leu3938=) | |
| 5 | g.13708249G>T | CA443251309 | DNAH5 | n.545C>A c.13212C>A (p.Leu4404=) c.13167C>A (p.Leu4389=) c.13320C>A (p.Leu4440=) c.12900C>A (p.Leu4300=) c.12225C>A (p.Leu4075=) c.8409C>A (p.Leu2803=) c.7962C>A (p.Leu2654=) c.7299C>A (p.Leu2433=) c.11814C>A (p.Leu3938=) | |
| 5 | g.13708250A>C | CA359197364 | DNAH5 | n.544T>G c.13211T>G (p.Leu4404Arg) c.13166T>G (p.Leu4389Arg) c.13319T>G (p.Leu4440Arg) c.12899T>G (p.Leu4300Arg) c.12224T>G (p.Leu4075Arg) c.8408T>G (p.Leu2803Arg) c.7961T>G (p.Leu2654Arg) c.7298T>G (p.Leu2433Arg) c.11813T>G (p.Leu3938Arg) | |
| 5 | g.13708250A>G | CA359197358 | DNAH5 | n.544T>C c.13211T>C (p.Leu4404Pro) c.13166T>C (p.Leu4389Pro) c.13319T>C (p.Leu4440Pro) c.12899T>C (p.Leu4300Pro) c.12224T>C (p.Leu4075Pro) c.8408T>C (p.Leu2803Pro) c.7961T>C (p.Leu2654Pro) c.7298T>C (p.Leu2433Pro) c.11813T>C (p.Leu3938Pro) | |
| 5 | g.13708250A>T | CA359197353 | DNAH5 | n.544T>A c.13211T>A (p.Leu4404His) c.13166T>A (p.Leu4389His) c.13319T>A (p.Leu4440His) c.12899T>A (p.Leu4300His) c.12224T>A (p.Leu4075His) c.8408T>A (p.Leu2803His) c.7961T>A (p.Leu2654His) c.7298T>A (p.Leu2433His) c.11813T>A (p.Leu3938His) | |
| 5 | g.13708251G>A | CA359197369 | DNAH5 | n.543C>T c.13210C>T (p.Leu4404Phe) c.13165C>T (p.Leu4389Phe) c.13318C>T (p.Leu4440Phe) c.12898C>T (p.Leu4300Phe) c.12223C>T (p.Leu4075Phe) c.8407C>T (p.Leu2803Phe) c.7960C>T (p.Leu2654Phe) c.7297C>T (p.Leu2433Phe) c.11812C>T (p.Leu3938Phe) | |
| 5 | g.13708251G>C | CA359197376 | DNAH5 | n.543C>G c.13210C>G (p.Leu4404Val) c.13165C>G (p.Leu4389Val) c.13318C>G (p.Leu4440Val) c.12898C>G (p.Leu4300Val) c.12223C>G (p.Leu4075Val) c.8407C>G (p.Leu2803Val) c.7960C>G (p.Leu2654Val) c.7297C>G (p.Leu2433Val) c.11812C>G (p.Leu3938Val) | |
| 5 | g.13708251G>T | CA359197380 | DNAH5 | n.543C>A c.13210C>A (p.Leu4404Ile) c.13165C>A (p.Leu4389Ile) c.13318C>A (p.Leu4440Ile) c.12898C>A (p.Leu4300Ile) c.12223C>A (p.Leu4075Ile) c.8407C>A (p.Leu2803Ile) c.7960C>A (p.Leu2654Ile) c.7297C>A (p.Leu2433Ile) c.11812C>A (p.Leu3938Ile) | |
| 5 | g.13708252T>A | CA443251314 | DNAH5 | n.542A>T c.13209A>T (p.Val4403=) c.13164A>T (p.Val4388=) c.13317A>T (p.Val4439=) c.12897A>T (p.Val4299=) c.12222A>T (p.Val4074=) c.8406A>T (p.Val2802=) c.7959A>T (p.Val2653=) c.7296A>T (p.Val2432=) c.11811A>T (p.Val3937=) | |
| 5 | g.13708252T>C | CA443251315 | DNAH5 | n.542A>G c.13209A>G (p.Val4403=) c.13164A>G (p.Val4388=) c.13317A>G (p.Val4439=) c.12897A>G (p.Val4299=) c.12222A>G (p.Val4074=) c.8406A>G (p.Val2802=) c.7959A>G (p.Val2653=) c.7296A>G (p.Val2432=) c.11811A>G (p.Val3937=) | |
| 5 | g.13708252T>G | CA443251316 | DNAH5 | n.542A>C c.13209A>C (p.Val4403=) c.13164A>C (p.Val4388=) c.13317A>C (p.Val4439=) c.12897A>C (p.Val4299=) c.12222A>C (p.Val4074=) c.8406A>C (p.Val2802=) c.7959A>C (p.Val2653=) c.7296A>C (p.Val2432=) c.11811A>C (p.Val3937=) | |
| 5 | g.13708253A>C | CA359197382 | DNAH5 | n.541T>G c.13208T>G (p.Val4403Gly) c.13163T>G (p.Val4388Gly) c.13316T>G (p.Val4439Gly) c.12896T>G (p.Val4299Gly) c.12221T>G (p.Val4074Gly) c.8405T>G (p.Val2802Gly) c.7958T>G (p.Val2653Gly) c.7295T>G (p.Val2432Gly) c.11810T>G (p.Val3937Gly) | |
| 5 | g.13708253A>G | CA359197383 | DNAH5 | n.541T>C c.13208T>C (p.Val4403Ala) c.13163T>C (p.Val4388Ala) c.13316T>C (p.Val4439Ala) c.12896T>C (p.Val4299Ala) c.12221T>C (p.Val4074Ala) c.8405T>C (p.Val2802Ala) c.7958T>C (p.Val2653Ala) c.7295T>C (p.Val2432Ala) c.11810T>C (p.Val3937Ala) | gnomAD v4 |
| 5 | g.13708253A>T | CA359197387 | DNAH5 | n.541T>A c.13208T>A (p.Val4403Glu) c.13163T>A (p.Val4388Glu) c.13316T>A (p.Val4439Glu) c.12896T>A (p.Val4299Glu) c.12221T>A (p.Val4074Glu) c.8405T>A (p.Val2802Glu) c.7958T>A (p.Val2653Glu) c.7295T>A (p.Val2432Glu) c.11810T>A (p.Val3937Glu) | |
| 5 | g.13708254C>A | CA359197391 | DNAH5 | n.540G>T c.13207G>T (p.Val4403Leu) c.13162G>T (p.Val4388Leu) c.13315G>T (p.Val4439Leu) c.12895G>T (p.Val4299Leu) c.12220G>T (p.Val4074Leu) c.8404G>T (p.Val2802Leu) c.7957G>T (p.Val2653Leu) c.7294G>T (p.Val2432Leu) c.11809G>T (p.Val3937Leu) | |
| 5 | g.13708254C= | CA1528403777 | DNAH5 | n.540G= c.13207G= (p.Val4403=) c.13162G= (p.Val4388=) c.13315G= (p.Val4439=) c.12895G= (p.Val4299=) c.12220G= (p.Val4074=) c.8404G= (p.Val2802=) c.7957G= (p.Val2653=) c.7294G= (p.Val2432=) c.11809G= (p.Val3937=) | |
| 5 | g.13708254C>G | CA359197404 | DNAH5 | n.540G>C c.13207G>C (p.Val4403Leu) c.13162G>C (p.Val4388Leu) c.13315G>C (p.Val4439Leu) c.12895G>C (p.Val4299Leu) c.12220G>C (p.Val4074Leu) c.8404G>C (p.Val2802Leu) c.7957G>C (p.Val2653Leu) c.7294G>C (p.Val2432Leu) c.11809G>C (p.Val3937Leu) | |
| 5 | g.13708254C>T | CA359197397 | DNAH5 | n.540G>A c.13207G>A (p.Val4403Ile) c.13162G>A (p.Val4388Ile) c.13315G>A (p.Val4439Ile) c.12895G>A (p.Val4299Ile) c.12220G>A (p.Val4074Ile) c.8404G>A (p.Val2802Ile) c.7957G>A (p.Val2653Ile) c.7294G>A (p.Val2432Ile) c.11809G>A (p.Val3937Ile) | dbSNP |
| 5 | g.13708255C>A | CA359197416 | DNAH5 | n.539G>T c.13206G>T (p.Arg4402Ser) c.13161G>T (p.Arg4387Ser) c.13314G>T (p.Arg4438Ser) c.12894G>T (p.Arg4298Ser) c.12219G>T (p.Arg4073Ser) c.8403G>T (p.Arg2801Ser) c.7956G>T (p.Arg2652Ser) c.7293G>T (p.Arg2431Ser) c.11808G>T (p.Arg3936Ser) | |
| 5 | g.13708255C= | CA1528403778 | DNAH5 | n.539G= c.13206G= (p.Arg4402=) c.13161G= (p.Arg4387=) c.13314G= (p.Arg4438=) c.12894G= (p.Arg4298=) c.12219G= (p.Arg4073=) c.8403G= (p.Arg2801=) c.7956G= (p.Arg2652=) c.7293G= (p.Arg2431=) c.11808G= (p.Arg3936=) | |
| 5 | g.13708255C>G | CA359197417 | DNAH5 | n.539G>C c.13206G>C (p.Arg4402Ser) c.13161G>C (p.Arg4387Ser) c.13314G>C (p.Arg4438Ser) c.12894G>C (p.Arg4298Ser) c.12219G>C (p.Arg4073Ser) c.8403G>C (p.Arg2801Ser) c.7956G>C (p.Arg2652Ser) c.7293G>C (p.Arg2431Ser) c.11808G>C (p.Arg3936Ser) | gnomAD v4 |
| 5 | g.13708255C>T | CA443251317 | DNAH5 | n.539G>A c.13206G>A (p.Arg4402=) c.13161G>A (p.Arg4387=) c.13314G>A (p.Arg4438=) c.12894G>A (p.Arg4298=) c.12219G>A (p.Arg4073=) c.8403G>A (p.Arg2801=) c.7956G>A (p.Arg2652=) c.7293G>A (p.Arg2431=) c.11808G>A (p.Arg3936=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13708256C>A | CA359197424 | DNAH5 | n.538G>T c.13205G>T (p.Arg4402Met) c.13160G>T (p.Arg4387Met) c.13313G>T (p.Arg4438Met) c.12893G>T (p.Arg4298Met) c.12218G>T (p.Arg4073Met) c.8402G>T (p.Arg2801Met) c.7955G>T (p.Arg2652Met) c.7292G>T (p.Arg2431Met) c.11807G>T (p.Arg3936Met) | |
| 5 | g.13708256C>G | CA359197427 | DNAH5 | n.538G>C c.13205G>C (p.Arg4402Thr) c.13160G>C (p.Arg4387Thr) c.13313G>C (p.Arg4438Thr) c.12893G>C (p.Arg4298Thr) c.12218G>C (p.Arg4073Thr) c.8402G>C (p.Arg2801Thr) c.7955G>C (p.Arg2652Thr) c.7292G>C (p.Arg2431Thr) c.11807G>C (p.Arg3936Thr) | |
| 5 | g.13708256C>T | CA359197449 | DNAH5 | n.538G>A c.13205G>A (p.Arg4402Lys) c.13160G>A (p.Arg4387Lys) c.13313G>A (p.Arg4438Lys) c.12893G>A (p.Arg4298Lys) c.12218G>A (p.Arg4073Lys) c.8402G>A (p.Arg2801Lys) c.7955G>A (p.Arg2652Lys) c.7292G>A (p.Arg2431Lys) c.11807G>A (p.Arg3936Lys) | gnomAD v4 |
| 5 | g.13708257T>A | CA359197453 | DNAH5 | n.537A>T c.13204A>T (p.Arg4402Trp) c.13159A>T (p.Arg4387Trp) c.13312A>T (p.Arg4438Trp) c.12892A>T (p.Arg4298Trp) c.12217A>T (p.Arg4073Trp) c.8401A>T (p.Arg2801Trp) c.7954A>T (p.Arg2652Trp) c.7291A>T (p.Arg2431Trp) c.11806A>T (p.Arg3936Trp) | |
| 5 | g.13708257T>C | CA359197457 | DNAH5 | n.537A>G c.13204A>G (p.Arg4402Gly) c.13159A>G (p.Arg4387Gly) c.13312A>G (p.Arg4438Gly) c.12892A>G (p.Arg4298Gly) c.12217A>G (p.Arg4073Gly) c.8401A>G (p.Arg2801Gly) c.7954A>G (p.Arg2652Gly) c.7291A>G (p.Arg2431Gly) c.11806A>G (p.Arg3936Gly) | |
| 5 | g.13708257T>G | CA443251319 | DNAH5 | n.537A>C c.13204A>C (p.Arg4402=) c.13159A>C (p.Arg4387=) c.13312A>C (p.Arg4438=) c.12892A>C (p.Arg4298=) c.12217A>C (p.Arg4073=) c.8401A>C (p.Arg2801=) c.7954A>C (p.Arg2652=) c.7291A>C (p.Arg2431=) c.11806A>C (p.Arg3936=) | |
| 5 | g.13708258T>A | CA359197462 | DNAH5 | n.536A>T c.13203A>T (p.Gln4401His) c.13158A>T (p.Gln4386His) c.13311A>T (p.Gln4437His) c.12891A>T (p.Gln4297His) c.12216A>T (p.Gln4072His) c.8400A>T (p.Gln2800His) c.7953A>T (p.Gln2651His) c.7290A>T (p.Gln2430His) c.11805A>T (p.Gln3935His) | |
| 5 | g.13708258T>C | CA443251320 | DNAH5 | n.536A>G c.13203A>G (p.Gln4401=) c.13158A>G (p.Gln4386=) c.13311A>G (p.Gln4437=) c.12891A>G (p.Gln4297=) c.12216A>G (p.Gln4072=) c.8400A>G (p.Gln2800=) c.7953A>G (p.Gln2651=) c.7290A>G (p.Gln2430=) c.11805A>G (p.Gln3935=) | |
| 5 | g.13708258T>G | CA359197468 | DNAH5 | n.536A>C c.13203A>C (p.Gln4401His) c.13158A>C (p.Gln4386His) c.13311A>C (p.Gln4437His) c.12891A>C (p.Gln4297His) c.12216A>C (p.Gln4072His) c.8400A>C (p.Gln2800His) c.7953A>C (p.Gln2651His) c.7290A>C (p.Gln2430His) c.11805A>C (p.Gln3935His) | |
| 5 | g.13708259T>A | CA359197485 | DNAH5 | n.535A>T c.13202A>T (p.Gln4401Leu) c.13157A>T (p.Gln4386Leu) c.13310A>T (p.Gln4437Leu) c.12890A>T (p.Gln4297Leu) c.12215A>T (p.Gln4072Leu) c.8399A>T (p.Gln2800Leu) c.7952A>T (p.Gln2651Leu) c.7289A>T (p.Gln2430Leu) c.11804A>T (p.Gln3935Leu) | |
| 5 | g.13708259T>C | CA359197489 | DNAH5 | n.535A>G c.13202A>G (p.Gln4401Arg) c.13157A>G (p.Gln4386Arg) c.13310A>G (p.Gln4437Arg) c.12890A>G (p.Gln4297Arg) c.12215A>G (p.Gln4072Arg) c.8399A>G (p.Gln2800Arg) c.7952A>G (p.Gln2651Arg) c.7289A>G (p.Gln2430Arg) c.11804A>G (p.Gln3935Arg) | gnomAD v4 |
| 5 | g.13708259T>G | CA359197494 | DNAH5 | n.535A>C c.13202A>C (p.Gln4401Pro) c.13157A>C (p.Gln4386Pro) c.13310A>C (p.Gln4437Pro) c.12890A>C (p.Gln4297Pro) c.12215A>C (p.Gln4072Pro) c.8399A>C (p.Gln2800Pro) c.7952A>C (p.Gln2651Pro) c.7289A>C (p.Gln2430Pro) c.11804A>C (p.Gln3935Pro) | |
| 5 | g.13708260G>A | CA359197500 | DNAH5 | n.534C>T c.13201C>T (p.Gln4401Ter) c.13156C>T (p.Gln4386Ter) c.13309C>T (p.Gln4437Ter) c.12889C>T (p.Gln4297Ter) c.12214C>T (p.Gln4072Ter) c.8398C>T (p.Gln2800Ter) c.7951C>T (p.Gln2651Ter) c.7288C>T (p.Gln2430Ter) c.11803C>T (p.Gln3935Ter) | dbSNP |
| 5 | g.13708260G>C | CA359197496 | DNAH5 | n.534C>G c.13201C>G (p.Gln4401Glu) c.13156C>G (p.Gln4386Glu) c.13309C>G (p.Gln4437Glu) c.12889C>G (p.Gln4297Glu) c.12214C>G (p.Gln4072Glu) c.8398C>G (p.Gln2800Glu) c.7951C>G (p.Gln2651Glu) c.7288C>G (p.Gln2430Glu) c.11803C>G (p.Gln3935Glu) | |
| 5 | g.13708260G= | CA1528403779 | DNAH5 | n.534C= c.13201C= (p.Gln4401=) c.13156C= (p.Gln4386=) c.13309C= (p.Gln4437=) c.12889C= (p.Gln4297=) c.12214C= (p.Gln4072=) c.8398C= (p.Gln2800=) c.7951C= (p.Gln2651=) c.7288C= (p.Gln2430=) c.11803C= (p.Gln3935=) | |
| 5 | g.13708260G>T | CA359197495 | DNAH5 | n.534C>A c.13201C>A (p.Gln4401Lys) c.13156C>A (p.Gln4386Lys) c.13309C>A (p.Gln4437Lys) c.12889C>A (p.Gln4297Lys) c.12214C>A (p.Gln4072Lys) c.8398C>A (p.Gln2800Lys) c.7951C>A (p.Gln2651Lys) c.7288C>A (p.Gln2430Lys) c.11803C>A (p.Gln3935Lys) | |
| 5 | g.13708261C>A | CA359197527 | DNAH5 | n.533G>T c.13200G>T (p.Met4400Ile) c.13155G>T (p.Met4385Ile) c.13308G>T (p.Met4436Ile) c.12888G>T (p.Met4296Ile) c.12213G>T (p.Met4071Ile) c.8397G>T (p.Met2799Ile) c.7950G>T (p.Met2650Ile) c.7287G>T (p.Met2429Ile) c.11802G>T (p.Met3934Ile) | |
| 5 | g.13708261C= | CA1528403780 | DNAH5 | n.533G= c.13200G= (p.Met4400=) c.13155G= (p.Met4385=) c.13308G= (p.Met4436=) c.12888G= (p.Met4296=) c.12213G= (p.Met4071=) c.8397G= (p.Met2799=) c.7950G= (p.Met2650=) c.7287G= (p.Met2429=) c.11802G= (p.Met3934=) | |
| 5 | g.13708261C>G | CA359197508 | DNAH5 | n.533G>C c.13200G>C (p.Met4400Ile) c.13155G>C (p.Met4385Ile) c.13308G>C (p.Met4436Ile) c.12888G>C (p.Met4296Ile) c.12213G>C (p.Met4071Ile) c.8397G>C (p.Met2799Ile) c.7950G>C (p.Met2650Ile) c.7287G>C (p.Met2429Ile) c.11802G>C (p.Met3934Ile) | |
| 5 | g.13708261C>T | CA3201421 | DNAH5 | n.533G>A c.13200G>A (p.Met4400Ile) c.13155G>A (p.Met4385Ile) c.13308G>A (p.Met4436Ile) c.12888G>A (p.Met4296Ile) c.12213G>A (p.Met4071Ile) c.8397G>A (p.Met2799Ile) c.7950G>A (p.Met2650Ile) c.7287G>A (p.Met2429Ile) c.11802G>A (p.Met3934Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13708262A= | CA1528403781 | DNAH5 | n.532T= c.13199T= (p.Met4400=) c.13154T= (p.Met4385=) c.13307T= (p.Met4436=) c.12887T= (p.Met4296=) c.12212T= (p.Met4071=) c.8396T= (p.Met2799=) c.7949T= (p.Met2650=) c.7286T= (p.Met2429=) c.11801T= (p.Met3934=) | |
| 5 | g.13708262A>C | CA359197539 | DNAH5 | n.532T>G c.13199T>G (p.Met4400Arg) c.13154T>G (p.Met4385Arg) c.13307T>G (p.Met4436Arg) c.12887T>G (p.Met4296Arg) c.12212T>G (p.Met4071Arg) c.8396T>G (p.Met2799Arg) c.7949T>G (p.Met2650Arg) c.7286T>G (p.Met2429Arg) c.11801T>G (p.Met3934Arg) | |
| 5 | g.13708262A>G | CA359197554 | DNAH5 | n.532T>C c.13199T>C (p.Met4400Thr) c.13154T>C (p.Met4385Thr) c.13307T>C (p.Met4436Thr) c.12887T>C (p.Met4296Thr) c.12212T>C (p.Met4071Thr) c.8396T>C (p.Met2799Thr) c.7949T>C (p.Met2650Thr) c.7286T>C (p.Met2429Thr) c.11801T>C (p.Met3934Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708262A>T | CA359197545 | DNAH5 | n.532T>A c.13199T>A (p.Met4400Lys) c.13154T>A (p.Met4385Lys) c.13307T>A (p.Met4436Lys) c.12887T>A (p.Met4296Lys) c.12212T>A (p.Met4071Lys) c.8396T>A (p.Met2799Lys) c.7949T>A (p.Met2650Lys) c.7286T>A (p.Met2429Lys) c.11801T>A (p.Met3934Lys) | |
| 5 | g.13708263T>A | CA359197561 | DNAH5 | n.531A>T c.13198A>T (p.Met4400Leu) c.13153A>T (p.Met4385Leu) c.13306A>T (p.Met4436Leu) c.12886A>T (p.Met4296Leu) c.12211A>T (p.Met4071Leu) c.8395A>T (p.Met2799Leu) c.7948A>T (p.Met2650Leu) c.7285A>T (p.Met2429Leu) c.11800A>T (p.Met3934Leu) | dbSNP |
| 5 | g.13708263T>C | CA359197573 | DNAH5 | n.531A>G c.13198A>G (p.Met4400Val) c.13153A>G (p.Met4385Val) c.13306A>G (p.Met4436Val) c.12886A>G (p.Met4296Val) c.12211A>G (p.Met4071Val) c.8395A>G (p.Met2799Val) c.7948A>G (p.Met2650Val) c.7285A>G (p.Met2429Val) c.11800A>G (p.Met3934Val) | gnomAD v4 |
| 5 | g.13708263T>G | CA359197568 | DNAH5 | n.531A>C c.13198A>C (p.Met4400Leu) c.13153A>C (p.Met4385Leu) c.13306A>C (p.Met4436Leu) c.12886A>C (p.Met4296Leu) c.12211A>C (p.Met4071Leu) c.8395A>C (p.Met2799Leu) c.7948A>C (p.Met2650Leu) c.7285A>C (p.Met2429Leu) c.11800A>C (p.Met3934Leu) | |
| 5 | g.13708263T= | CA1528403783 | DNAH5 | n.531A= c.13198A= (p.Met4400=) c.13153A= (p.Met4385=) c.13306A= (p.Met4436=) c.12886A= (p.Met4296=) c.12211A= (p.Met4071=) c.8395A= (p.Met2799=) c.7948A= (p.Met2650=) c.7285A= (p.Met2429=) c.11800A= (p.Met3934=) | |
| 5 | g.13708263_13708267delinsTTCTG | CA1528403782 | DNAH5 | n.527_531delinsCAGAA c.13194_13198delinsCAGAA (p.Asp4398=) c.13149_13153delinsCAGAA (p.Asp4383=) c.13302_13306delinsCAGAA (p.Asp4434=) c.12882_12886delinsCAGAA (p.Asp4294=) c.12207_12211delinsCAGAA (p.Asp4069=) c.8391_8395delinsCAGAA (p.Asp2797=) c.7944_7948delinsCAGAA (p.Asp2648=) c.7281_7285delinsCAGAA (p.Asp2427=) c.11796_11800delinsCAGAA (p.Asp3932=) |