UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13764772_13769751delinsTAA | CA916084225 | DNAH5 | c.9606-136_10101+1204delinsTTA c.9561-136_10056+1204delinsTTA n.318-136_610-1871delinsTTA c.9714-136_10209+1204delinsTTA c.8619-136_9114+1204delinsTTA c.4803-136_5298+1204delinsTTA c.4356-136_4851+1204delinsTTA c.3693-136_4188+1204delinsTTA c.8208-136_8703+1204delinsTTA | ClinVar |
| 5 | g.13769059G>A | CA443253848 | DNAH5 | c.9798C>T (p.Ala3266=) c.9753C>T (p.Ala3251=) n.510C>T c.9906C>T (p.Ala3302=) c.8811C>T (p.Ala2937=) c.4995C>T (p.Ala1665=) c.4548C>T (p.Ala1516=) c.3885C>T (p.Ala1295=) c.8400C>T (p.Ala2800=) | gnomAD v4 |
| 5 | g.13769059G>C | CA443253850 | DNAH5 | c.9798C>G (p.Ala3266=) c.9753C>G (p.Ala3251=) n.510C>G c.9906C>G (p.Ala3302=) c.8811C>G (p.Ala2937=) c.4995C>G (p.Ala1665=) c.4548C>G (p.Ala1516=) c.3885C>G (p.Ala1295=) c.8400C>G (p.Ala2800=) | |
| 5 | g.13769059G>T | CA443253852 | DNAH5 | c.9798C>A (p.Ala3266=) c.9753C>A (p.Ala3251=) n.510C>A c.9906C>A (p.Ala3302=) c.8811C>A (p.Ala2937=) c.4995C>A (p.Ala1665=) c.4548C>A (p.Ala1516=) c.3885C>A (p.Ala1295=) c.8400C>A (p.Ala2800=) | |
| 5 | g.13769060G>A | CA359201962 | DNAH5 | c.9797C>T (p.Ala3266Val) c.9752C>T (p.Ala3251Val) n.509C>T c.9905C>T (p.Ala3302Val) c.8810C>T (p.Ala2937Val) c.4994C>T (p.Ala1665Val) c.4547C>T (p.Ala1516Val) c.3884C>T (p.Ala1295Val) c.8399C>T (p.Ala2800Val) | COSMIC |
| 5 | g.13769060G>C | CA359201963 | DNAH5 | c.9797C>G (p.Ala3266Gly) c.9752C>G (p.Ala3251Gly) n.509C>G c.9905C>G (p.Ala3302Gly) c.8810C>G (p.Ala2937Gly) c.4994C>G (p.Ala1665Gly) c.4547C>G (p.Ala1516Gly) c.3884C>G (p.Ala1295Gly) c.8399C>G (p.Ala2800Gly) | gnomAD v4 |
| 5 | g.13769060G>T | CA359201969 | DNAH5 | c.9797C>A (p.Ala3266Asp) c.9752C>A (p.Ala3251Asp) n.509C>A c.9905C>A (p.Ala3302Asp) c.8810C>A (p.Ala2937Asp) c.4994C>A (p.Ala1665Asp) c.4547C>A (p.Ala1516Asp) c.3884C>A (p.Ala1295Asp) c.8399C>A (p.Ala2800Asp) | |
| 5 | g.13769061C>A | CA359201976 | DNAH5 | c.9796G>T (p.Ala3266Ser) c.9751G>T (p.Ala3251Ser) n.508G>T c.9904G>T (p.Ala3302Ser) c.8809G>T (p.Ala2937Ser) c.4993G>T (p.Ala1665Ser) c.4546G>T (p.Ala1516Ser) c.3883G>T (p.Ala1295Ser) c.8398G>T (p.Ala2800Ser) | |
| 5 | g.13769061C>G | CA359201973 | DNAH5 | c.9796G>C (p.Ala3266Pro) c.9751G>C (p.Ala3251Pro) n.508G>C c.9904G>C (p.Ala3302Pro) c.8809G>C (p.Ala2937Pro) c.4993G>C (p.Ala1665Pro) c.4546G>C (p.Ala1516Pro) c.3883G>C (p.Ala1295Pro) c.8398G>C (p.Ala2800Pro) | |
| 5 | g.13769061C>T | CA359201971 | DNAH5 | c.9796G>A (p.Ala3266Thr) c.9751G>A (p.Ala3251Thr) n.508G>A c.9904G>A (p.Ala3302Thr) c.8809G>A (p.Ala2937Thr) c.4993G>A (p.Ala1665Thr) c.4546G>A (p.Ala1516Thr) c.3883G>A (p.Ala1295Thr) c.8398G>A (p.Ala2800Thr) | gnomAD v4 |
| 5 | g.13769062C>A | CA359201978 | DNAH5 | c.9795G>T (p.Arg3265Ser) c.9750G>T (p.Arg3250Ser) n.507G>T c.9903G>T (p.Arg3301Ser) c.8808G>T (p.Arg2936Ser) c.4992G>T (p.Arg1664Ser) c.4545G>T (p.Arg1515Ser) c.3882G>T (p.Arg1294Ser) c.8397G>T (p.Arg2799Ser) | |
| 5 | g.13769062C>G | CA359201979 | DNAH5 | c.9795G>C (p.Arg3265Ser) c.9750G>C (p.Arg3250Ser) n.507G>C c.9903G>C (p.Arg3301Ser) c.8808G>C (p.Arg2936Ser) c.4992G>C (p.Arg1664Ser) c.4545G>C (p.Arg1515Ser) c.3882G>C (p.Arg1294Ser) c.8397G>C (p.Arg2799Ser) | |
| 5 | g.13769062C>T | CA443253858 | DNAH5 | c.9795G>A (p.Arg3265=) c.9750G>A (p.Arg3250=) n.507G>A c.9903G>A (p.Arg3301=) c.8808G>A (p.Arg2936=) c.4992G>A (p.Arg1664=) c.4545G>A (p.Arg1515=) c.3882G>A (p.Arg1294=) c.8397G>A (p.Arg2799=) | |
| 5 | g.13769063C>A | CA359201982 | DNAH5 | c.9794G>T (p.Arg3265Met) c.9749G>T (p.Arg3250Met) n.506G>T c.9902G>T (p.Arg3301Met) c.8807G>T (p.Arg2936Met) c.4991G>T (p.Arg1664Met) c.4544G>T (p.Arg1515Met) c.3881G>T (p.Arg1294Met) c.8396G>T (p.Arg2799Met) | |
| 5 | g.13769063C= | CA1528430370 | DNAH5 | c.9794G= (p.Arg3265=) c.9749G= (p.Arg3250=) n.506G= c.9902G= (p.Arg3301=) c.8807G= (p.Arg2936=) c.4991G= (p.Arg1664=) c.4544G= (p.Arg1515=) c.3881G= (p.Arg1294=) c.8396G= (p.Arg2799=) | |
| 5 | g.13769063C>G | CA359201983 | DNAH5 | c.9794G>C (p.Arg3265Thr) c.9749G>C (p.Arg3250Thr) n.506G>C c.9902G>C (p.Arg3301Thr) c.8807G>C (p.Arg2936Thr) c.4991G>C (p.Arg1664Thr) c.4544G>C (p.Arg1515Thr) c.3881G>C (p.Arg1294Thr) c.8396G>C (p.Arg2799Thr) | |
| 5 | g.13769063C>T | CA359201992 | DNAH5 | c.9794G>A (p.Arg3265Lys) c.9749G>A (p.Arg3250Lys) n.506G>A c.9902G>A (p.Arg3301Lys) c.8807G>A (p.Arg2936Lys) c.4991G>A (p.Arg1664Lys) c.4544G>A (p.Arg1515Lys) c.3881G>A (p.Arg1294Lys) c.8396G>A (p.Arg2799Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769064T>A | CA359201994 | DNAH5 | c.9793A>T (p.Arg3265Trp) c.9748A>T (p.Arg3250Trp) n.505A>T c.9901A>T (p.Arg3301Trp) c.8806A>T (p.Arg2936Trp) c.4990A>T (p.Arg1664Trp) c.4543A>T (p.Arg1515Trp) c.3880A>T (p.Arg1294Trp) c.8395A>T (p.Arg2799Trp) | |
| 5 | g.13769064T>C | CA359201997 | DNAH5 | c.9793A>G (p.Arg3265Gly) c.9748A>G (p.Arg3250Gly) n.505A>G c.9901A>G (p.Arg3301Gly) c.8806A>G (p.Arg2936Gly) c.4990A>G (p.Arg1664Gly) c.4543A>G (p.Arg1515Gly) c.3880A>G (p.Arg1294Gly) c.8395A>G (p.Arg2799Gly) | |
| 5 | g.13769064T>G | CA443253861 | DNAH5 | c.9793A>C (p.Arg3265=) c.9748A>C (p.Arg3250=) n.505A>C c.9901A>C (p.Arg3301=) c.8806A>C (p.Arg2936=) c.4990A>C (p.Arg1664=) c.4543A>C (p.Arg1515=) c.3880A>C (p.Arg1294=) c.8395A>C (p.Arg2799=) | |
| 5 | g.13769065G>A | CA443253863 | DNAH5 | c.9792C>T (p.Asp3264=) c.9747C>T (p.Asp3249=) n.504C>T c.9900C>T (p.Asp3300=) c.8805C>T (p.Asp2935=) c.4989C>T (p.Asp1663=) c.4542C>T (p.Asp1514=) c.3879C>T (p.Asp1293=) c.8394C>T (p.Asp2798=) | ClinVar dbSNP |
| 5 | g.13769065G>C | CA359201999 | DNAH5 | c.9792C>G (p.Asp3264Glu) c.9747C>G (p.Asp3249Glu) n.504C>G c.9900C>G (p.Asp3300Glu) c.8805C>G (p.Asp2935Glu) c.4989C>G (p.Asp1663Glu) c.4542C>G (p.Asp1514Glu) c.3879C>G (p.Asp1293Glu) c.8394C>G (p.Asp2798Glu) | |
| 5 | g.13769065G= | CA1528430371 | DNAH5 | c.9792C= (p.Asp3264=) c.9747C= (p.Asp3249=) n.504C= c.9900C= (p.Asp3300=) c.8805C= (p.Asp2935=) c.4989C= (p.Asp1663=) c.4542C= (p.Asp1514=) c.3879C= (p.Asp1293=) c.8394C= (p.Asp2798=) | |
| 5 | g.13769065G>T | CA359202000 | DNAH5 | c.9792C>A (p.Asp3264Glu) c.9747C>A (p.Asp3249Glu) n.504C>A c.9900C>A (p.Asp3300Glu) c.8805C>A (p.Asp2935Glu) c.4989C>A (p.Asp1663Glu) c.4542C>A (p.Asp1514Glu) c.3879C>A (p.Asp1293Glu) c.8394C>A (p.Asp2798Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13769066T>A | CA359202006 | DNAH5 | c.9791A>T (p.Asp3264Val) c.9746A>T (p.Asp3249Val) n.503A>T c.9899A>T (p.Asp3300Val) c.8804A>T (p.Asp2935Val) c.4988A>T (p.Asp1663Val) c.4541A>T (p.Asp1514Val) c.3878A>T (p.Asp1293Val) c.8393A>T (p.Asp2798Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13769066T>C | CA359202013 | DNAH5 | c.9791A>G (p.Asp3264Gly) c.9746A>G (p.Asp3249Gly) n.503A>G c.9899A>G (p.Asp3300Gly) c.8804A>G (p.Asp2935Gly) c.4988A>G (p.Asp1663Gly) c.4541A>G (p.Asp1514Gly) c.3878A>G (p.Asp1293Gly) c.8393A>G (p.Asp2798Gly) | |
| 5 | g.13769066T>G | CA359202014 | DNAH5 | c.9791A>C (p.Asp3264Ala) c.9746A>C (p.Asp3249Ala) n.503A>C c.9899A>C (p.Asp3300Ala) c.8804A>C (p.Asp2935Ala) c.4988A>C (p.Asp1663Ala) c.4541A>C (p.Asp1514Ala) c.3878A>C (p.Asp1293Ala) c.8393A>C (p.Asp2798Ala) | |
| 5 | g.13769066T= | CA1528430372 | DNAH5 | c.9791A= (p.Asp3264=) c.9746A= (p.Asp3249=) n.503A= c.9899A= (p.Asp3300=) c.8804A= (p.Asp2935=) c.4988A= (p.Asp1663=) c.4541A= (p.Asp1514=) c.3878A= (p.Asp1293=) c.8393A= (p.Asp2798=) | |
| 5 | g.13769067C>A | CA359202016 | DNAH5 | c.9790G>T (p.Asp3264Tyr) c.9745G>T (p.Asp3249Tyr) n.502G>T c.9898G>T (p.Asp3300Tyr) c.8803G>T (p.Asp2935Tyr) c.4987G>T (p.Asp1663Tyr) c.4540G>T (p.Asp1514Tyr) c.3877G>T (p.Asp1293Tyr) c.8392G>T (p.Asp2798Tyr) | gnomAD v4 |
| 5 | g.13769067C= | CA1528430373 | DNAH5 | c.9790G= (p.Asp3264=) c.9745G= (p.Asp3249=) n.502G= c.9898G= (p.Asp3300=) c.8803G= (p.Asp2935=) c.4987G= (p.Asp1663=) c.4540G= (p.Asp1514=) c.3877G= (p.Asp1293=) c.8392G= (p.Asp2798=) | |
| 5 | g.13769067C>G | CA359202015 | DNAH5 | c.9790G>C (p.Asp3264His) c.9745G>C (p.Asp3249His) n.502G>C c.9898G>C (p.Asp3300His) c.8803G>C (p.Asp2935His) c.4987G>C (p.Asp1663His) c.4540G>C (p.Asp1514His) c.3877G>C (p.Asp1293His) c.8392G>C (p.Asp2798His) | COSMIC |
| 5 | g.13769067C>T | CA3202425 | DNAH5 | c.9790G>A (p.Asp3264Asn) c.9745G>A (p.Asp3249Asn) n.502G>A c.9898G>A (p.Asp3300Asn) c.8803G>A (p.Asp2935Asn) c.4987G>A (p.Asp1663Asn) c.4540G>A (p.Asp1514Asn) c.3877G>A (p.Asp1293Asn) c.8392G>A (p.Asp2798Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13769068C>A | CA359202019 | DNAH5 | c.9789G>T (p.Lys3263Asn) c.9744G>T (p.Lys3248Asn) n.501G>T c.9897G>T (p.Lys3299Asn) c.8802G>T (p.Lys2934Asn) c.4986G>T (p.Lys1662Asn) c.4539G>T (p.Lys1513Asn) c.3876G>T (p.Lys1292Asn) c.8391G>T (p.Lys2797Asn) | |
| 5 | g.13769068C>G | CA359202021 | DNAH5 | c.9789G>C (p.Lys3263Asn) c.9744G>C (p.Lys3248Asn) n.501G>C c.9897G>C (p.Lys3299Asn) c.8802G>C (p.Lys2934Asn) c.4986G>C (p.Lys1662Asn) c.4539G>C (p.Lys1513Asn) c.3876G>C (p.Lys1292Asn) c.8391G>C (p.Lys2797Asn) | |
| 5 | g.13769068C>T | CA443253866 | DNAH5 | c.9789G>A (p.Lys3263=) c.9744G>A (p.Lys3248=) n.501G>A c.9897G>A (p.Lys3299=) c.8802G>A (p.Lys2934=) c.4986G>A (p.Lys1662=) c.4539G>A (p.Lys1513=) c.3876G>A (p.Lys1292=) c.8391G>A (p.Lys2797=) | gnomAD v4 |
| 5 | g.13769069T>A | CA359202022 | DNAH5 | c.9788A>T (p.Lys3263Met) c.9743A>T (p.Lys3248Met) n.500A>T c.9896A>T (p.Lys3299Met) c.8801A>T (p.Lys2934Met) c.4985A>T (p.Lys1662Met) c.4538A>T (p.Lys1513Met) c.3875A>T (p.Lys1292Met) c.8390A>T (p.Lys2797Met) | |
| 5 | g.13769069T>C | CA3202426 | DNAH5 | c.9788A>G (p.Lys3263Arg) c.9743A>G (p.Lys3248Arg) n.500A>G c.9896A>G (p.Lys3299Arg) c.8801A>G (p.Lys2934Arg) c.4985A>G (p.Lys1662Arg) c.4538A>G (p.Lys1513Arg) c.3875A>G (p.Lys1292Arg) c.8390A>G (p.Lys2797Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769069T>G | CA359202025 | DNAH5 | c.9788A>C (p.Lys3263Thr) c.9743A>C (p.Lys3248Thr) n.500A>C c.9896A>C (p.Lys3299Thr) c.8801A>C (p.Lys2934Thr) c.4985A>C (p.Lys1662Thr) c.4538A>C (p.Lys1513Thr) c.3875A>C (p.Lys1292Thr) c.8390A>C (p.Lys2797Thr) | COSMIC |
| 5 | g.13769069T= | CA1528430374 | DNAH5 | c.9788A= (p.Lys3263=) c.9743A= (p.Lys3248=) n.500A= c.9896A= (p.Lys3299=) c.8801A= (p.Lys2934=) c.4985A= (p.Lys1662=) c.4538A= (p.Lys1513=) c.3875A= (p.Lys1292=) c.8390A= (p.Lys2797=) | |
| 5 | g.13769070T>A | CA359202027 | DNAH5 | c.9787A>T (p.Lys3263Ter) c.9742A>T (p.Lys3248Ter) n.499A>T c.9895A>T (p.Lys3299Ter) c.8800A>T (p.Lys2934Ter) c.4984A>T (p.Lys1662Ter) c.4537A>T (p.Lys1513Ter) c.3874A>T (p.Lys1292Ter) c.8389A>T (p.Lys2797Ter) | |
| 5 | g.13769070T>C | CA359202031 | DNAH5 | c.9787A>G (p.Lys3263Glu) c.9742A>G (p.Lys3248Glu) n.499A>G c.9895A>G (p.Lys3299Glu) c.8800A>G (p.Lys2934Glu) c.4984A>G (p.Lys1662Glu) c.4537A>G (p.Lys1513Glu) c.3874A>G (p.Lys1292Glu) c.8389A>G (p.Lys2797Glu) | |
| 5 | g.13769070T>G | CA359202036 | DNAH5 | c.9787A>C (p.Lys3263Gln) c.9742A>C (p.Lys3248Gln) n.499A>C c.9895A>C (p.Lys3299Gln) c.8800A>C (p.Lys2934Gln) c.4984A>C (p.Lys1662Gln) c.4537A>C (p.Lys1513Gln) c.3874A>C (p.Lys1292Gln) c.8389A>C (p.Lys2797Gln) | |
| 5 | g.13769071C>A | CA443253872 | DNAH5 | c.9786G>T (p.Val3262=) c.9741G>T (p.Val3247=) n.498G>T c.9894G>T (p.Val3298=) c.8799G>T (p.Val2933=) c.4983G>T (p.Val1661=) c.4536G>T (p.Val1512=) c.3873G>T (p.Val1291=) c.8388G>T (p.Val2796=) | |
| 5 | g.13769071C>G | CA443253873 | DNAH5 | c.9786G>C (p.Val3262=) c.9741G>C (p.Val3247=) n.498G>C c.9894G>C (p.Val3298=) c.8799G>C (p.Val2933=) c.4983G>C (p.Val1661=) c.4536G>C (p.Val1512=) c.3873G>C (p.Val1291=) c.8388G>C (p.Val2796=) | |
| 5 | g.13769071C>T | CA443253871 | DNAH5 | c.9786G>A (p.Val3262=) c.9741G>A (p.Val3247=) n.498G>A c.9894G>A (p.Val3298=) c.8799G>A (p.Val2933=) c.4983G>A (p.Val1661=) c.4536G>A (p.Val1512=) c.3873G>A (p.Val1291=) c.8388G>A (p.Val2796=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13769072A>C | CA359202039 | DNAH5 | c.9785T>G (p.Val3262Gly) c.9740T>G (p.Val3247Gly) n.497T>G c.9893T>G (p.Val3298Gly) c.8798T>G (p.Val2933Gly) c.4982T>G (p.Val1661Gly) c.4535T>G (p.Val1512Gly) c.3872T>G (p.Val1291Gly) c.8387T>G (p.Val2796Gly) | |
| 5 | g.13769072A>G | CA359202043 | DNAH5 | c.9785T>C (p.Val3262Ala) c.9740T>C (p.Val3247Ala) n.497T>C c.9893T>C (p.Val3298Ala) c.8798T>C (p.Val2933Ala) c.4982T>C (p.Val1661Ala) c.4535T>C (p.Val1512Ala) c.3872T>C (p.Val1291Ala) c.8387T>C (p.Val2796Ala) | |
| 5 | g.13769072A>T | CA359202046 | DNAH5 | c.9785T>A (p.Val3262Glu) c.9740T>A (p.Val3247Glu) n.497T>A c.9893T>A (p.Val3298Glu) c.8798T>A (p.Val2933Glu) c.4982T>A (p.Val1661Glu) c.4535T>A (p.Val1512Glu) c.3872T>A (p.Val1291Glu) c.8387T>A (p.Val2796Glu) | |
| 5 | g.13769073C>A | CA359202048 | DNAH5 | c.9784G>T (p.Val3262Leu) c.9739G>T (p.Val3247Leu) n.496G>T c.9892G>T (p.Val3298Leu) c.8797G>T (p.Val2933Leu) c.4981G>T (p.Val1661Leu) c.4534G>T (p.Val1512Leu) c.3871G>T (p.Val1291Leu) c.8386G>T (p.Val2796Leu) | |
| 5 | g.13769073C= | CA1528430375 | DNAH5 | c.9784G= (p.Val3262=) c.9739G= (p.Val3247=) n.496G= c.9892G= (p.Val3298=) c.8797G= (p.Val2933=) c.4981G= (p.Val1661=) c.4534G= (p.Val1512=) c.3871G= (p.Val1291=) c.8386G= (p.Val2796=) | |
| 5 | g.13769073C>G | CA359202051 | DNAH5 | c.9784G>C (p.Val3262Leu) c.9739G>C (p.Val3247Leu) n.496G>C c.9892G>C (p.Val3298Leu) c.8797G>C (p.Val2933Leu) c.4981G>C (p.Val1661Leu) c.4534G>C (p.Val1512Leu) c.3871G>C (p.Val1291Leu) c.8386G>C (p.Val2796Leu) | |
| 5 | g.13769073C>T | CA359202058 | DNAH5 | c.9784G>A (p.Val3262Met) c.9739G>A (p.Val3247Met) n.496G>A c.9892G>A (p.Val3298Met) c.8797G>A (p.Val2933Met) c.4981G>A (p.Val1661Met) c.4534G>A (p.Val1512Met) c.3871G>A (p.Val1291Met) c.8386G>A (p.Val2796Met) | dbSNP |
| 5 | g.13769074C>A | CA359202062 | DNAH5 | c.9783G>T (p.Lys3261Asn) c.9738G>T (p.Lys3246Asn) n.495G>T c.9891G>T (p.Lys3297Asn) c.8796G>T (p.Lys2932Asn) c.4980G>T (p.Lys1660Asn) c.4533G>T (p.Lys1511Asn) c.3870G>T (p.Lys1290Asn) c.8385G>T (p.Lys2795Asn) | gnomAD v4 |
| 5 | g.13769074C= | CA1528430376 | DNAH5 | c.9783G= (p.Lys3261=) c.9738G= (p.Lys3246=) n.495G= c.9891G= (p.Lys3297=) c.8796G= (p.Lys2932=) c.4980G= (p.Lys1660=) c.4533G= (p.Lys1511=) c.3870G= (p.Lys1290=) c.8385G= (p.Lys2795=) | |
| 5 | g.13769074C>G | CA359202063 | DNAH5 | c.9783G>C (p.Lys3261Asn) c.9738G>C (p.Lys3246Asn) n.495G>C c.9891G>C (p.Lys3297Asn) c.8796G>C (p.Lys2932Asn) c.4980G>C (p.Lys1660Asn) c.4533G>C (p.Lys1511Asn) c.3870G>C (p.Lys1290Asn) c.8385G>C (p.Lys2795Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13769074C>T | CA443253876 | DNAH5 | c.9783G>A (p.Lys3261=) c.9738G>A (p.Lys3246=) n.495G>A c.9891G>A (p.Lys3297=) c.8796G>A (p.Lys2932=) c.4980G>A (p.Lys1660=) c.4533G>A (p.Lys1511=) c.3870G>A (p.Lys1290=) c.8385G>A (p.Lys2795=) | |
| 5 | g.13769075T>A | CA359202064 | DNAH5 | c.9782A>T (p.Lys3261Met) c.9737A>T (p.Lys3246Met) n.494A>T c.9890A>T (p.Lys3297Met) c.8795A>T (p.Lys2932Met) c.4979A>T (p.Lys1660Met) c.4532A>T (p.Lys1511Met) c.3869A>T (p.Lys1290Met) c.8384A>T (p.Lys2795Met) | |
| 5 | g.13769075T>C | CA359202065 | DNAH5 | c.9782A>G (p.Lys3261Arg) c.9737A>G (p.Lys3246Arg) n.494A>G c.9890A>G (p.Lys3297Arg) c.8795A>G (p.Lys2932Arg) c.4979A>G (p.Lys1660Arg) c.4532A>G (p.Lys1511Arg) c.3869A>G (p.Lys1290Arg) c.8384A>G (p.Lys2795Arg) | |
| 5 | g.13769075T>G | CA359202066 | DNAH5 | c.9782A>C (p.Lys3261Thr) c.9737A>C (p.Lys3246Thr) n.494A>C c.9890A>C (p.Lys3297Thr) c.8795A>C (p.Lys2932Thr) c.4979A>C (p.Lys1660Thr) c.4532A>C (p.Lys1511Thr) c.3869A>C (p.Lys1290Thr) c.8384A>C (p.Lys2795Thr) | |
| 5 | g.13769076del | CA2697547057 | DNAH5 | c.9782del (p.Lys3261ArgfsTer2) c.9737del (p.Lys3246ArgfsTer2) n.494del c.9890del (p.Lys3297ArgfsTer2) c.8795del (p.Lys2932ArgfsTer2) c.4979del (p.Lys1660ArgfsTer2) c.4532del (p.Lys1511ArgfsTer2) c.3869del (p.Lys1290ArgfsTer2) c.8384del (p.Lys2795ArgfsTer2) | ClinVar |
| 5 | g.13769076T>A | CA359202067 | DNAH5 | c.9781A>T (p.Lys3261Ter) c.9736A>T (p.Lys3246Ter) n.493A>T c.9889A>T (p.Lys3297Ter) c.8794A>T (p.Lys2932Ter) c.4978A>T (p.Lys1660Ter) c.4531A>T (p.Lys1511Ter) c.3868A>T (p.Lys1290Ter) c.8383A>T (p.Lys2795Ter) | ClinVar |
| 5 | g.13769076T>C | CA3202427 | DNAH5 | c.9781A>G (p.Lys3261Glu) c.9736A>G (p.Lys3246Glu) n.493A>G c.9889A>G (p.Lys3297Glu) c.8794A>G (p.Lys2932Glu) c.4978A>G (p.Lys1660Glu) c.4531A>G (p.Lys1511Glu) c.3868A>G (p.Lys1290Glu) c.8383A>G (p.Lys2795Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769076T>G | CA359202078 | DNAH5 | c.9781A>C (p.Lys3261Gln) c.9736A>C (p.Lys3246Gln) n.493A>C c.9889A>C (p.Lys3297Gln) c.8794A>C (p.Lys2932Gln) c.4978A>C (p.Lys1660Gln) c.4531A>C (p.Lys1511Gln) c.3868A>C (p.Lys1290Gln) c.8383A>C (p.Lys2795Gln) | |
| 5 | g.13769076T= | CA1528430377 | DNAH5 | c.9781A= (p.Lys3261=) c.9736A= (p.Lys3246=) n.493A= c.9889A= (p.Lys3297=) c.8794A= (p.Lys2932=) c.4978A= (p.Lys1660=) c.4531A= (p.Lys1511=) c.3868A= (p.Lys1290=) c.8383A= (p.Lys2795=) | |
| 5 | g.13769078_13769085del | CA2673269719 | DNAH5 | c.9774_9781del (p.Val3259GlyfsTer14) c.9729_9736del (p.Val3244GlyfsTer14) n.486_493del c.9882_9889del (p.Val3295GlyfsTer14) c.8787_8794del (p.Val2930GlyfsTer14) c.4971_4978del (p.Val1658GlyfsTer14) c.4524_4531del (p.Val1509GlyfsTer14) c.3861_3868del (p.Val1288GlyfsTer14) c.8376_8383del (p.Val2793GlyfsTer14) | gnomAD v4 |
| 5 | g.13769077C>A | CA359202081 | DNAH5 | c.9780G>T (p.Gln3260His) c.9735G>T (p.Gln3245His) n.492G>T c.9888G>T (p.Gln3296His) c.8793G>T (p.Gln2931His) c.4977G>T (p.Gln1659His) c.4530G>T (p.Gln1510His) c.3867G>T (p.Gln1289His) c.8382G>T (p.Gln2794His) | |
| 5 | g.13769077C>G | CA359202083 | DNAH5 | c.9780G>C (p.Gln3260His) c.9735G>C (p.Gln3245His) n.492G>C c.9888G>C (p.Gln3296His) c.8793G>C (p.Gln2931His) c.4977G>C (p.Gln1659His) c.4530G>C (p.Gln1510His) c.3867G>C (p.Gln1289His) c.8382G>C (p.Gln2794His) | |
| 5 | g.13769077C>T | CA443253880 | DNAH5 | c.9780G>A (p.Gln3260=) c.9735G>A (p.Gln3245=) n.492G>A c.9888G>A (p.Gln3296=) c.8793G>A (p.Gln2931=) c.4977G>A (p.Gln1659=) c.4530G>A (p.Gln1510=) c.3867G>A (p.Gln1289=) c.8382G>A (p.Gln2794=) | gnomAD v4 |
| 5 | g.13769078T>A | CA359202085 | DNAH5 | c.9779A>T (p.Gln3260Leu) c.9734A>T (p.Gln3245Leu) n.491A>T c.9887A>T (p.Gln3296Leu) c.8792A>T (p.Gln2931Leu) c.4976A>T (p.Gln1659Leu) c.4529A>T (p.Gln1510Leu) c.3866A>T (p.Gln1289Leu) c.8381A>T (p.Gln2794Leu) | |
| 5 | g.13769078T>C | CA359202088 | DNAH5 | c.9779A>G (p.Gln3260Arg) c.9734A>G (p.Gln3245Arg) n.491A>G c.9887A>G (p.Gln3296Arg) c.8792A>G (p.Gln2931Arg) c.4976A>G (p.Gln1659Arg) c.4529A>G (p.Gln1510Arg) c.3866A>G (p.Gln1289Arg) c.8381A>G (p.Gln2794Arg) | dbSNP gnomAD v2 |
| 5 | g.13769078T>G | CA359202090 | DNAH5 | c.9779A>C (p.Gln3260Pro) c.9734A>C (p.Gln3245Pro) n.491A>C c.9887A>C (p.Gln3296Pro) c.8792A>C (p.Gln2931Pro) c.4976A>C (p.Gln1659Pro) c.4529A>C (p.Gln1510Pro) c.3866A>C (p.Gln1289Pro) c.8381A>C (p.Gln2794Pro) | |
| 5 | g.13769078T= | CA1528430378 | DNAH5 | c.9779A= (p.Gln3260=) c.9734A= (p.Gln3245=) n.491A= c.9887A= (p.Gln3296=) c.8792A= (p.Gln2931=) c.4976A= (p.Gln1659=) c.4529A= (p.Gln1510=) c.3866A= (p.Gln1289=) c.8381A= (p.Gln2794=) | |
| 5 | g.13769079G>A | CA359202092 | DNAH5 | c.9778C>T (p.Gln3260Ter) c.9733C>T (p.Gln3245Ter) n.490C>T c.9886C>T (p.Gln3296Ter) c.8791C>T (p.Gln2931Ter) c.4975C>T (p.Gln1659Ter) c.4528C>T (p.Gln1510Ter) c.3865C>T (p.Gln1289Ter) c.8380C>T (p.Gln2794Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13769079G>C | CA359202095 | DNAH5 | c.9778C>G (p.Gln3260Glu) c.9733C>G (p.Gln3245Glu) n.490C>G c.9886C>G (p.Gln3296Glu) c.8791C>G (p.Gln2931Glu) c.4975C>G (p.Gln1659Glu) c.4528C>G (p.Gln1510Glu) c.3865C>G (p.Gln1289Glu) c.8380C>G (p.Gln2794Glu) | |
| 5 | g.13769079G= | CA1528430379 | DNAH5 | c.9778C= (p.Gln3260=) c.9733C= (p.Gln3245=) n.490C= c.9886C= (p.Gln3296=) c.8791C= (p.Gln2931=) c.4975C= (p.Gln1659=) c.4528C= (p.Gln1510=) c.3865C= (p.Gln1289=) c.8380C= (p.Gln2794=) | |
| 5 | g.13769079G>T | CA359202094 | DNAH5 | c.9778C>A (p.Gln3260Lys) c.9733C>A (p.Gln3245Lys) n.490C>A c.9886C>A (p.Gln3296Lys) c.8791C>A (p.Gln2931Lys) c.4975C>A (p.Gln1659Lys) c.4528C>A (p.Gln1510Lys) c.3865C>A (p.Gln1289Lys) c.8380C>A (p.Gln2794Lys) | |
| 5 | g.13769080T>A | CA443253885 | DNAH5 | c.9777A>T (p.Val3259=) c.9732A>T (p.Val3244=) n.489A>T c.9885A>T (p.Val3295=) c.8790A>T (p.Val2930=) c.4974A>T (p.Val1658=) c.4527A>T (p.Val1509=) c.3864A>T (p.Val1288=) c.8379A>T (p.Val2793=) | |
| 5 | g.13769080T>C | CA443253886 | DNAH5 | c.9777A>G (p.Val3259=) c.9732A>G (p.Val3244=) n.489A>G c.9885A>G (p.Val3295=) c.8790A>G (p.Val2930=) c.4974A>G (p.Val1658=) c.4527A>G (p.Val1509=) c.3864A>G (p.Val1288=) c.8379A>G (p.Val2793=) | |
| 5 | g.13769080T>G | CA443253887 | DNAH5 | c.9777A>C (p.Val3259=) c.9732A>C (p.Val3244=) n.489A>C c.9885A>C (p.Val3295=) c.8790A>C (p.Val2930=) c.4974A>C (p.Val1658=) c.4527A>C (p.Val1509=) c.3864A>C (p.Val1288=) c.8379A>C (p.Val2793=) | |
| 5 | g.13769081A>C | CA359202096 | DNAH5 | c.9776T>G (p.Val3259Gly) c.9731T>G (p.Val3244Gly) n.488T>G c.9884T>G (p.Val3295Gly) c.8789T>G (p.Val2930Gly) c.4973T>G (p.Val1658Gly) c.4526T>G (p.Val1509Gly) c.3863T>G (p.Val1288Gly) c.8378T>G (p.Val2793Gly) | |
| 5 | g.13769081A>G | CA359202098 | DNAH5 | c.9776T>C (p.Val3259Ala) c.9731T>C (p.Val3244Ala) n.488T>C c.9884T>C (p.Val3295Ala) c.8789T>C (p.Val2930Ala) c.4973T>C (p.Val1658Ala) c.4526T>C (p.Val1509Ala) c.3863T>C (p.Val1288Ala) c.8378T>C (p.Val2793Ala) | |
| 5 | g.13769081A>T | CA359202097 | DNAH5 | c.9776T>A (p.Val3259Glu) c.9731T>A (p.Val3244Glu) n.488T>A c.9884T>A (p.Val3295Glu) c.8789T>A (p.Val2930Glu) c.4973T>A (p.Val1658Glu) c.4526T>A (p.Val1509Glu) c.3863T>A (p.Val1288Glu) c.8378T>A (p.Val2793Glu) | |
| 5 | g.13769082C>A | CA359202101 | DNAH5 | c.9775G>T (p.Val3259Leu) c.9730G>T (p.Val3244Leu) n.487G>T c.9883G>T (p.Val3295Leu) c.8788G>T (p.Val2930Leu) c.4972G>T (p.Val1658Leu) c.4525G>T (p.Val1509Leu) c.3862G>T (p.Val1288Leu) c.8377G>T (p.Val2793Leu) | COSMIC |
| 5 | g.13769082C>G | CA359202108 | DNAH5 | c.9775G>C (p.Val3259Leu) c.9730G>C (p.Val3244Leu) n.487G>C c.9883G>C (p.Val3295Leu) c.8788G>C (p.Val2930Leu) c.4972G>C (p.Val1658Leu) c.4525G>C (p.Val1509Leu) c.3862G>C (p.Val1288Leu) c.8377G>C (p.Val2793Leu) | |
| 5 | g.13769082C>T | CA359202103 | DNAH5 | c.9775G>A (p.Val3259Ile) c.9730G>A (p.Val3244Ile) n.487G>A c.9883G>A (p.Val3295Ile) c.8788G>A (p.Val2930Ile) c.4972G>A (p.Val1658Ile) c.4525G>A (p.Val1509Ile) c.3862G>A (p.Val1288Ile) c.8377G>A (p.Val2793Ile) | |
| 5 | g.13769083dup | CA2673269720 | DNAH5 | c.9775dup (p.Val3259GlyfsTer17) c.9730dup (p.Val3244GlyfsTer17) n.487dup c.9883dup (p.Val3295GlyfsTer17) c.8788dup (p.Val2930GlyfsTer17) c.4972dup (p.Val1658GlyfsTer17) c.4525dup (p.Val1509GlyfsTer17) c.3862dup (p.Val1288GlyfsTer17) c.8377dup (p.Val2793GlyfsTer17) | gnomAD v4 |
| 5 | g.13769082_13769083insTGTCTCTTATA | CA2580072196 | DNAH5 | c.9774_9775insTATAAGAGACA (p.Val3259TyrfsTer8) c.9729_9730insTATAAGAGACA (p.Val3244TyrfsTer8) n.486_487insTATAAGAGACA c.9882_9883insTATAAGAGACA (p.Val3295TyrfsTer8) c.8787_8788insTATAAGAGACA (p.Val2930TyrfsTer8) c.4971_4972insTATAAGAGACA (p.Val1658TyrfsTer8) c.4524_4525insTATAAGAGACA (p.Val1509TyrfsTer8) c.3861_3862insTATAAGAGACA (p.Val1288TyrfsTer8) c.8376_8377insTATAAGAGACA (p.Val2793TyrfsTer8) | ClinVar |
| 5 | g.13769083C>A | CA359202112 | DNAH5 | c.9774G>T (p.Glu3258Asp) c.9729G>T (p.Glu3243Asp) n.486G>T c.9882G>T (p.Glu3294Asp) c.8787G>T (p.Glu2929Asp) c.4971G>T (p.Glu1657Asp) c.4524G>T (p.Glu1508Asp) c.3861G>T (p.Glu1287Asp) c.8376G>T (p.Glu2792Asp) | |
| 5 | g.13769083C>G | CA359202119 | DNAH5 | c.9774G>C (p.Glu3258Asp) c.9729G>C (p.Glu3243Asp) n.486G>C c.9882G>C (p.Glu3294Asp) c.8787G>C (p.Glu2929Asp) c.4971G>C (p.Glu1657Asp) c.4524G>C (p.Glu1508Asp) c.3861G>C (p.Glu1287Asp) c.8376G>C (p.Glu2792Asp) | |
| 5 | g.13769083C>T | CA443253893 | DNAH5 | c.9774G>A (p.Glu3258=) c.9729G>A (p.Glu3243=) n.486G>A c.9882G>A (p.Glu3294=) c.8787G>A (p.Glu2929=) c.4971G>A (p.Glu1657=) c.4524G>A (p.Glu1508=) c.3861G>A (p.Glu1287=) c.8376G>A (p.Glu2792=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13769084T>A | CA359202122 | DNAH5 | c.9773A>T (p.Glu3258Val) c.9728A>T (p.Glu3243Val) n.485A>T c.9881A>T (p.Glu3294Val) c.8786A>T (p.Glu2929Val) c.4970A>T (p.Glu1657Val) c.4523A>T (p.Glu1508Val) c.3860A>T (p.Glu1287Val) c.8375A>T (p.Glu2792Val) | |
| 5 | g.13769084T>C | CA359202123 | DNAH5 | c.9773A>G (p.Glu3258Gly) c.9728A>G (p.Glu3243Gly) n.485A>G c.9881A>G (p.Glu3294Gly) c.8786A>G (p.Glu2929Gly) c.4970A>G (p.Glu1657Gly) c.4523A>G (p.Glu1508Gly) c.3860A>G (p.Glu1287Gly) c.8375A>G (p.Glu2792Gly) | |
| 5 | g.13769084T>G | CA359202125 | DNAH5 | c.9773A>C (p.Glu3258Ala) c.9728A>C (p.Glu3243Ala) n.485A>C c.9881A>C (p.Glu3294Ala) c.8786A>C (p.Glu2929Ala) c.4970A>C (p.Glu1657Ala) c.4523A>C (p.Glu1508Ala) c.3860A>C (p.Glu1287Ala) c.8375A>C (p.Glu2792Ala) | |
| 5 | g.13769085C>A | CA359202129 | DNAH5 | c.9772G>T (p.Glu3258Ter) c.9727G>T (p.Glu3243Ter) n.484G>T c.9880G>T (p.Glu3294Ter) c.8785G>T (p.Glu2929Ter) c.4969G>T (p.Glu1657Ter) c.4522G>T (p.Glu1508Ter) c.3859G>T (p.Glu1287Ter) c.8374G>T (p.Glu2792Ter) | COSMIC |
| 5 | g.13769085C= | CA1528430380 | DNAH5 | c.9772G= (p.Glu3258=) c.9727G= (p.Glu3243=) n.484G= c.9880G= (p.Glu3294=) c.8785G= (p.Glu2929=) c.4969G= (p.Glu1657=) c.4522G= (p.Glu1508=) c.3859G= (p.Glu1287=) c.8374G= (p.Glu2792=) | |
| 5 | g.13769085C>G | CA359202134 | DNAH5 | c.9772G>C (p.Glu3258Gln) c.9727G>C (p.Glu3243Gln) n.484G>C c.9880G>C (p.Glu3294Gln) c.8785G>C (p.Glu2929Gln) c.4969G>C (p.Glu1657Gln) c.4522G>C (p.Glu1508Gln) c.3859G>C (p.Glu1287Gln) c.8374G>C (p.Glu2792Gln) | ClinVar gnomAD v4 |
| 5 | g.13769085C>T | CA3202428 | DNAH5 | c.9772G>A (p.Glu3258Lys) c.9727G>A (p.Glu3243Lys) n.484G>A c.9880G>A (p.Glu3294Lys) c.8785G>A (p.Glu2929Lys) c.4969G>A (p.Glu1657Lys) c.4522G>A (p.Glu1508Lys) c.3859G>A (p.Glu1287Lys) c.8374G>A (p.Glu2792Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769086A>C | CA443253899 | DNAH5 | c.9771T>G (p.Ala3257=) c.9726T>G (p.Ala3242=) n.483T>G c.9879T>G (p.Ala3293=) c.8784T>G (p.Ala2928=) c.4968T>G (p.Ala1656=) c.4521T>G (p.Ala1507=) c.3858T>G (p.Ala1286=) c.8373T>G (p.Ala2791=) | |
| 5 | g.13769086A>G | CA443253901 | DNAH5 | c.9771T>C (p.Ala3257=) c.9726T>C (p.Ala3242=) n.483T>C c.9879T>C (p.Ala3293=) c.8784T>C (p.Ala2928=) c.4968T>C (p.Ala1656=) c.4521T>C (p.Ala1507=) c.3858T>C (p.Ala1286=) c.8373T>C (p.Ala2791=) | |
| 5 | g.13769086A>T | CA443253903 | DNAH5 | c.9771T>A (p.Ala3257=) c.9726T>A (p.Ala3242=) n.483T>A c.9879T>A (p.Ala3293=) c.8784T>A (p.Ala2928=) c.4968T>A (p.Ala1656=) c.4521T>A (p.Ala1507=) c.3858T>A (p.Ala1286=) c.8373T>A (p.Ala2791=) | |
| 5 | g.13769087G>A | CA113930886 | DNAH5 | c.9770C>T (p.Ala3257Val) c.9725C>T (p.Ala3242Val) n.482C>T c.9878C>T (p.Ala3293Val) c.8783C>T (p.Ala2928Val) c.4967C>T (p.Ala1656Val) c.4520C>T (p.Ala1507Val) c.3857C>T (p.Ala1286Val) c.8372C>T (p.Ala2791Val) | dbSNP gnomAD v4 COSMIC |
| 5 | g.13769087G>C | CA359202152 | DNAH5 | c.9770C>G (p.Ala3257Gly) c.9725C>G (p.Ala3242Gly) n.482C>G c.9878C>G (p.Ala3293Gly) c.8783C>G (p.Ala2928Gly) c.4967C>G (p.Ala1656Gly) c.4520C>G (p.Ala1507Gly) c.3857C>G (p.Ala1286Gly) c.8372C>G (p.Ala2791Gly) | |
| 5 | g.13769087G= | CA1528430381 | DNAH5 | c.9770C= (p.Ala3257=) c.9725C= (p.Ala3242=) n.482C= c.9878C= (p.Ala3293=) c.8783C= (p.Ala2928=) c.4967C= (p.Ala1656=) c.4520C= (p.Ala1507=) c.3857C= (p.Ala1286=) c.8372C= (p.Ala2791=) | |
| 5 | g.13769087G>T | CA359202155 | DNAH5 | c.9770C>A (p.Ala3257Asp) c.9725C>A (p.Ala3242Asp) n.482C>A c.9878C>A (p.Ala3293Asp) c.8783C>A (p.Ala2928Asp) c.4967C>A (p.Ala1656Asp) c.4520C>A (p.Ala1507Asp) c.3857C>A (p.Ala1286Asp) c.8372C>A (p.Ala2791Asp) | |
| 5 | g.13769088C>A | CA359202168 | DNAH5 | c.9769G>T (p.Ala3257Ser) c.9724G>T (p.Ala3242Ser) n.481G>T c.9877G>T (p.Ala3293Ser) c.8782G>T (p.Ala2928Ser) c.4966G>T (p.Ala1656Ser) c.4519G>T (p.Ala1507Ser) c.3856G>T (p.Ala1286Ser) c.8371G>T (p.Ala2791Ser) | |
| 5 | g.13769088C>G | CA359202165 | DNAH5 | c.9769G>C (p.Ala3257Pro) c.9724G>C (p.Ala3242Pro) n.481G>C c.9877G>C (p.Ala3293Pro) c.8782G>C (p.Ala2928Pro) c.4966G>C (p.Ala1656Pro) c.4519G>C (p.Ala1507Pro) c.3856G>C (p.Ala1286Pro) c.8371G>C (p.Ala2791Pro) | |
| 5 | g.13769088C>T | CA359202162 | DNAH5 | c.9769G>A (p.Ala3257Thr) c.9724G>A (p.Ala3242Thr) n.481G>A c.9877G>A (p.Ala3293Thr) c.8782G>A (p.Ala2928Thr) c.4966G>A (p.Ala1656Thr) c.4519G>A (p.Ala1507Thr) c.3856G>A (p.Ala1286Thr) c.8371G>A (p.Ala2791Thr) | |
| 5 | g.13769088_13769089delinsAGTTCCGCA | CA2580072197 | DNAH5 | c.9768_9769delinsTGCGGAACT (p.Lys3256AsnfsTer5) c.9723_9724delinsTGCGGAACT (p.Lys3241AsnfsTer5) n.480_481delinsTGCGGAACT c.9876_9877delinsTGCGGAACT (p.Lys3292AsnfsTer5) c.8781_8782delinsTGCGGAACT (p.Lys2927AsnfsTer5) c.4965_4966delinsTGCGGAACT (p.Lys1655AsnfsTer5) c.4518_4519delinsTGCGGAACT (p.Lys1506AsnfsTer5) c.3855_3856delinsTGCGGAACT (p.Lys1285AsnfsTer5) c.8370_8371delinsTGCGGAACT (p.Lys2790AsnfsTer5) | ClinVar |
| 5 | g.13769089C>A | CA359202169 | DNAH5 | c.9768G>T (p.Lys3256Asn) c.9723G>T (p.Lys3241Asn) n.480G>T c.9876G>T (p.Lys3292Asn) c.8781G>T (p.Lys2927Asn) c.4965G>T (p.Lys1655Asn) c.4518G>T (p.Lys1506Asn) c.3855G>T (p.Lys1285Asn) c.8370G>T (p.Lys2790Asn) | |
| 5 | g.13769089C>G | CA359202171 | DNAH5 | c.9768G>C (p.Lys3256Asn) c.9723G>C (p.Lys3241Asn) n.480G>C c.9876G>C (p.Lys3292Asn) c.8781G>C (p.Lys2927Asn) c.4965G>C (p.Lys1655Asn) c.4518G>C (p.Lys1506Asn) c.3855G>C (p.Lys1285Asn) c.8370G>C (p.Lys2790Asn) | |
| 5 | g.13769089C>T | CA443253908 | DNAH5 | c.9768G>A (p.Lys3256=) c.9723G>A (p.Lys3241=) n.480G>A c.9876G>A (p.Lys3292=) c.8781G>A (p.Lys2927=) c.4965G>A (p.Lys1655=) c.4518G>A (p.Lys1506=) c.3855G>A (p.Lys1285=) c.8370G>A (p.Lys2790=) | |
| 5 | g.13769090T>A | CA359202179 | DNAH5 | c.9767A>T (p.Lys3256Met) c.9722A>T (p.Lys3241Met) n.479A>T c.9875A>T (p.Lys3292Met) c.8780A>T (p.Lys2927Met) c.4964A>T (p.Lys1655Met) c.4517A>T (p.Lys1506Met) c.3854A>T (p.Lys1285Met) c.8369A>T (p.Lys2790Met) | |
| 5 | g.13769090T>C | CA359202186 | DNAH5 | c.9767A>G (p.Lys3256Arg) c.9722A>G (p.Lys3241Arg) n.479A>G c.9875A>G (p.Lys3292Arg) c.8780A>G (p.Lys2927Arg) c.4964A>G (p.Lys1655Arg) c.4517A>G (p.Lys1506Arg) c.3854A>G (p.Lys1285Arg) c.8369A>G (p.Lys2790Arg) | |
| 5 | g.13769090T>G | CA359202188 | DNAH5 | c.9767A>C (p.Lys3256Thr) c.9722A>C (p.Lys3241Thr) n.479A>C c.9875A>C (p.Lys3292Thr) c.8780A>C (p.Lys2927Thr) c.4964A>C (p.Lys1655Thr) c.4517A>C (p.Lys1506Thr) c.3854A>C (p.Lys1285Thr) c.8369A>C (p.Lys2790Thr) | COSMIC |
| 5 | g.13769091T>A | CA359202193 | DNAH5 | c.9766A>T (p.Lys3256Ter) c.9721A>T (p.Lys3241Ter) n.478A>T c.9874A>T (p.Lys3292Ter) c.8779A>T (p.Lys2927Ter) c.4963A>T (p.Lys1655Ter) c.4516A>T (p.Lys1506Ter) c.3853A>T (p.Lys1285Ter) c.8368A>T (p.Lys2790Ter) | ClinVar |
| 5 | g.13769091T>C | CA3202429 | DNAH5 | c.9766A>G (p.Lys3256Glu) c.9721A>G (p.Lys3241Glu) n.478A>G c.9874A>G (p.Lys3292Glu) c.8779A>G (p.Lys2927Glu) c.4963A>G (p.Lys1655Glu) c.4516A>G (p.Lys1506Glu) c.3853A>G (p.Lys1285Glu) c.8368A>G (p.Lys2790Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769091T>G | CA359202202 | DNAH5 | c.9766A>C (p.Lys3256Gln) c.9721A>C (p.Lys3241Gln) n.478A>C c.9874A>C (p.Lys3292Gln) c.8779A>C (p.Lys2927Gln) c.4963A>C (p.Lys1655Gln) c.4516A>C (p.Lys1506Gln) c.3853A>C (p.Lys1285Gln) c.8368A>C (p.Lys2790Gln) | |
| 5 | g.13769091T= | CA1528430382 | DNAH5 | c.9766A= (p.Lys3256=) c.9721A= (p.Lys3241=) n.478A= c.9874A= (p.Lys3292=) c.8779A= (p.Lys2927=) c.4963A= (p.Lys1655=) c.4516A= (p.Lys1506=) c.3853A= (p.Lys1285=) c.8368A= (p.Lys2790=) | |
| 5 | g.13769092G>A | CA443253913 | DNAH5 | c.9765C>T (p.Val3255=) c.9720C>T (p.Val3240=) n.477C>T c.9873C>T (p.Val3291=) c.8778C>T (p.Val2926=) c.4962C>T (p.Val1654=) c.4515C>T (p.Val1505=) c.3852C>T (p.Val1284=) c.8367C>T (p.Val2789=) | |
| 5 | g.13769092G>C | CA443253914 | DNAH5 | c.9765C>G (p.Val3255=) c.9720C>G (p.Val3240=) n.477C>G c.9873C>G (p.Val3291=) c.8778C>G (p.Val2926=) c.4962C>G (p.Val1654=) c.4515C>G (p.Val1505=) c.3852C>G (p.Val1284=) c.8367C>G (p.Val2789=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13769092G= | CA1528430383 | DNAH5 | c.9765C= (p.Val3255=) c.9720C= (p.Val3240=) n.477C= c.9873C= (p.Val3291=) c.8778C= (p.Val2926=) c.4962C= (p.Val1654=) c.4515C= (p.Val1505=) c.3852C= (p.Val1284=) c.8367C= (p.Val2789=) | |
| 5 | g.13769092G>T | CA443253915 | DNAH5 | c.9765C>A (p.Val3255=) c.9720C>A (p.Val3240=) n.477C>A c.9873C>A (p.Val3291=) c.8778C>A (p.Val2926=) c.4962C>A (p.Val1654=) c.4515C>A (p.Val1505=) c.3852C>A (p.Val1284=) c.8367C>A (p.Val2789=) | ClinVar |
| 5 | g.13769093A>C | CA359202206 | DNAH5 | c.9764T>G (p.Val3255Gly) c.9719T>G (p.Val3240Gly) n.476T>G c.9872T>G (p.Val3291Gly) c.8777T>G (p.Val2926Gly) c.4961T>G (p.Val1654Gly) c.4514T>G (p.Val1505Gly) c.3851T>G (p.Val1284Gly) c.8366T>G (p.Val2789Gly) | ClinVar dbSNP |
| 5 | g.13769093A>G | CA359202208 | DNAH5 | c.9764T>C (p.Val3255Ala) c.9719T>C (p.Val3240Ala) n.476T>C c.9872T>C (p.Val3291Ala) c.8777T>C (p.Val2926Ala) c.4961T>C (p.Val1654Ala) c.4514T>C (p.Val1505Ala) c.3851T>C (p.Val1284Ala) c.8366T>C (p.Val2789Ala) | |
| 5 | g.13769093A>T | CA359202209 | DNAH5 | c.9764T>A (p.Val3255Asp) c.9719T>A (p.Val3240Asp) n.476T>A c.9872T>A (p.Val3291Asp) c.8777T>A (p.Val2926Asp) c.4961T>A (p.Val1654Asp) c.4514T>A (p.Val1505Asp) c.3851T>A (p.Val1284Asp) c.8366T>A (p.Val2789Asp) | |
| 5 | g.13769094C>A | CA359202212 | DNAH5 | c.9763G>T (p.Val3255Phe) c.9718G>T (p.Val3240Phe) n.475G>T c.9871G>T (p.Val3291Phe) c.8776G>T (p.Val2926Phe) c.4960G>T (p.Val1654Phe) c.4513G>T (p.Val1505Phe) c.3850G>T (p.Val1284Phe) c.8365G>T (p.Val2789Phe) | |
| 5 | g.13769094C>G | CA359202211 | DNAH5 | c.9763G>C (p.Val3255Leu) c.9718G>C (p.Val3240Leu) n.475G>C c.9871G>C (p.Val3291Leu) c.8776G>C (p.Val2926Leu) c.4960G>C (p.Val1654Leu) c.4513G>C (p.Val1505Leu) c.3850G>C (p.Val1284Leu) c.8365G>C (p.Val2789Leu) | |
| 5 | g.13769094C>T | CA359202210 | DNAH5 | c.9763G>A (p.Val3255Ile) c.9718G>A (p.Val3240Ile) n.475G>A c.9871G>A (p.Val3291Ile) c.8776G>A (p.Val2926Ile) c.4960G>A (p.Val1654Ile) c.4513G>A (p.Val1505Ile) c.3850G>A (p.Val1284Ile) c.8365G>A (p.Val2789Ile) | gnomAD v4 |
| 5 | g.13769095C>A | CA359202213 | DNAH5 | c.9762G>T (p.Lys3254Asn) c.9717G>T (p.Lys3239Asn) n.474G>T c.9870G>T (p.Lys3290Asn) c.8775G>T (p.Lys2925Asn) c.4959G>T (p.Lys1653Asn) c.4512G>T (p.Lys1504Asn) c.3849G>T (p.Lys1283Asn) c.8364G>T (p.Lys2788Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13769095C= | CA1528430384 | DNAH5 | c.9762G= (p.Lys3254=) c.9717G= (p.Lys3239=) n.474G= c.9870G= (p.Lys3290=) c.8775G= (p.Lys2925=) c.4959G= (p.Lys1653=) c.4512G= (p.Lys1504=) c.3849G= (p.Lys1283=) c.8364G= (p.Lys2788=) | |
| 5 | g.13769095C>G | CA359202214 | DNAH5 | c.9762G>C (p.Lys3254Asn) c.9717G>C (p.Lys3239Asn) n.474G>C c.9870G>C (p.Lys3290Asn) c.8775G>C (p.Lys2925Asn) c.4959G>C (p.Lys1653Asn) c.4512G>C (p.Lys1504Asn) c.3849G>C (p.Lys1283Asn) c.8364G>C (p.Lys2788Asn) | |
| 5 | g.13769095C>T | CA3202430 | DNAH5 | c.9762G>A (p.Lys3254=) c.9717G>A (p.Lys3239=) n.474G>A c.9870G>A (p.Lys3290=) c.8775G>A (p.Lys2925=) c.4959G>A (p.Lys1653=) c.4512G>A (p.Lys1504=) c.3849G>A (p.Lys1283=) c.8364G>A (p.Lys2788=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769096T>A | CA359202217 | DNAH5 | c.9761A>T (p.Lys3254Met) c.9716A>T (p.Lys3239Met) n.473A>T c.9869A>T (p.Lys3290Met) c.8774A>T (p.Lys2925Met) c.4958A>T (p.Lys1653Met) c.4511A>T (p.Lys1504Met) c.3848A>T (p.Lys1283Met) c.8363A>T (p.Lys2788Met) | |
| 5 | g.13769096T>C | CA359202227 | DNAH5 | c.9761A>G (p.Lys3254Arg) c.9716A>G (p.Lys3239Arg) n.473A>G c.9869A>G (p.Lys3290Arg) c.8774A>G (p.Lys2925Arg) c.4958A>G (p.Lys1653Arg) c.4511A>G (p.Lys1504Arg) c.3848A>G (p.Lys1283Arg) c.8363A>G (p.Lys2788Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769096T>G | CA359202231 | DNAH5 | c.9761A>C (p.Lys3254Thr) c.9716A>C (p.Lys3239Thr) n.473A>C c.9869A>C (p.Lys3290Thr) c.8774A>C (p.Lys2925Thr) c.4958A>C (p.Lys1653Thr) c.4511A>C (p.Lys1504Thr) c.3848A>C (p.Lys1283Thr) c.8363A>C (p.Lys2788Thr) | |
| 5 | g.13769096T= | CA1528430385 | DNAH5 | c.9761A= (p.Lys3254=) c.9716A= (p.Lys3239=) n.473A= c.9869A= (p.Lys3290=) c.8774A= (p.Lys2925=) c.4958A= (p.Lys1653=) c.4511A= (p.Lys1504=) c.3848A= (p.Lys1283=) c.8363A= (p.Lys2788=) | |
| 5 | g.13769099del | CA2580072199 | DNAH5 | c.9761del (p.Lys3254ArgfsTer9) c.9716del (p.Lys3239ArgfsTer9) n.473del c.9869del (p.Lys3290ArgfsTer9) c.8774del (p.Lys2925ArgfsTer9) c.4958del (p.Lys1653ArgfsTer9) c.4511del (p.Lys1504ArgfsTer9) c.3848del (p.Lys1283ArgfsTer9) c.8363del (p.Lys2788ArgfsTer9) | ClinVar |
| 5 | g.13769097T>A | CA359202236 | DNAH5 | c.9760A>T (p.Lys3254Ter) c.9715A>T (p.Lys3239Ter) n.472A>T c.9868A>T (p.Lys3290Ter) c.8773A>T (p.Lys2925Ter) c.4957A>T (p.Lys1653Ter) c.4510A>T (p.Lys1504Ter) c.3847A>T (p.Lys1283Ter) c.8362A>T (p.Lys2788Ter) | |
| 5 | g.13769097T>C | CA359202244 | DNAH5 | c.9760A>G (p.Lys3254Glu) c.9715A>G (p.Lys3239Glu) n.472A>G c.9868A>G (p.Lys3290Glu) c.8773A>G (p.Lys2925Glu) c.4957A>G (p.Lys1653Glu) c.4510A>G (p.Lys1504Glu) c.3847A>G (p.Lys1283Glu) c.8362A>G (p.Lys2788Glu) | gnomAD v4 |
| 5 | g.13769097T>G | CA3202431 | DNAH5 | c.9760A>C (p.Lys3254Gln) c.9715A>C (p.Lys3239Gln) n.472A>C c.9868A>C (p.Lys3290Gln) c.8773A>C (p.Lys2925Gln) c.4957A>C (p.Lys1653Gln) c.4510A>C (p.Lys1504Gln) c.3847A>C (p.Lys1283Gln) c.8362A>C (p.Lys2788Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769097T= | CA1528430386 | DNAH5 | c.9760A= (p.Lys3254=) c.9715A= (p.Lys3239=) n.472A= c.9868A= (p.Lys3290=) c.8773A= (p.Lys2925=) c.4957A= (p.Lys1653=) c.4510A= (p.Lys1504=) c.3847A= (p.Lys1283=) c.8362A= (p.Lys2788=) | |
| 5 | g.13769098T>A | CA359202247 | DNAH5 | c.9759A>T (p.Glu3253Asp) c.9714A>T (p.Glu3238Asp) n.471A>T c.9867A>T (p.Glu3289Asp) c.8772A>T (p.Glu2924Asp) c.4956A>T (p.Glu1652Asp) c.4509A>T (p.Glu1503Asp) c.3846A>T (p.Glu1282Asp) c.8361A>T (p.Glu2787Asp) | |
| 5 | g.13769098T>C | CA443253935 | DNAH5 | c.9759A>G (p.Glu3253=) c.9714A>G (p.Glu3238=) n.471A>G c.9867A>G (p.Glu3289=) c.8772A>G (p.Glu2924=) c.4956A>G (p.Glu1652=) c.4509A>G (p.Glu1503=) c.3846A>G (p.Glu1282=) c.8361A>G (p.Glu2787=) | ClinVar |
| 5 | g.13769098T>G | CA359202256 | DNAH5 | c.9759A>C (p.Glu3253Asp) c.9714A>C (p.Glu3238Asp) n.471A>C c.9867A>C (p.Glu3289Asp) c.8772A>C (p.Glu2924Asp) c.4956A>C (p.Glu1652Asp) c.4509A>C (p.Glu1503Asp) c.3846A>C (p.Glu1282Asp) c.8361A>C (p.Glu2787Asp) | |
| 5 | g.13769099T>A | CA359202259 | DNAH5 | c.9758A>T (p.Glu3253Val) c.9713A>T (p.Glu3238Val) n.470A>T c.9866A>T (p.Glu3289Val) c.8771A>T (p.Glu2924Val) c.4955A>T (p.Glu1652Val) c.4508A>T (p.Glu1503Val) c.3845A>T (p.Glu1282Val) c.8360A>T (p.Glu2787Val) | |
| 5 | g.13769099T>C | CA359202258 | DNAH5 | c.9758A>G (p.Glu3253Gly) c.9713A>G (p.Glu3238Gly) n.470A>G c.9866A>G (p.Glu3289Gly) c.8771A>G (p.Glu2924Gly) c.4955A>G (p.Glu1652Gly) c.4508A>G (p.Glu1503Gly) c.3845A>G (p.Glu1282Gly) c.8360A>G (p.Glu2787Gly) | |
| 5 | g.13769099T>G | CA359202257 | DNAH5 | c.9758A>C (p.Glu3253Ala) c.9713A>C (p.Glu3238Ala) n.470A>C c.9866A>C (p.Glu3289Ala) c.8771A>C (p.Glu2924Ala) c.4955A>C (p.Glu1652Ala) c.4508A>C (p.Glu1503Ala) c.3845A>C (p.Glu1282Ala) c.8360A>C (p.Glu2787Ala) | |
| 5 | g.13769100C>A | CA359202271 | DNAH5 | c.9757G>T (p.Glu3253Ter) c.9712G>T (p.Glu3238Ter) n.469G>T c.9865G>T (p.Glu3289Ter) c.8770G>T (p.Glu2924Ter) c.4954G>T (p.Glu1652Ter) c.4507G>T (p.Glu1503Ter) c.3844G>T (p.Glu1282Ter) c.8359G>T (p.Glu2787Ter) | |
| 5 | g.13769100C>G | CA359202274 | DNAH5 | c.9757G>C (p.Glu3253Gln) c.9712G>C (p.Glu3238Gln) n.469G>C c.9865G>C (p.Glu3289Gln) c.8770G>C (p.Glu2924Gln) c.4954G>C (p.Glu1652Gln) c.4507G>C (p.Glu1503Gln) c.3844G>C (p.Glu1282Gln) c.8359G>C (p.Glu2787Gln) | |
| 5 | g.13769100C>T | CA359202276 | DNAH5 | c.9757G>A (p.Glu3253Lys) c.9712G>A (p.Glu3238Lys) n.469G>A c.9865G>A (p.Glu3289Lys) c.8770G>A (p.Glu2924Lys) c.4954G>A (p.Glu1652Lys) c.4507G>A (p.Glu1503Lys) c.3844G>A (p.Glu1282Lys) c.8359G>A (p.Glu2787Lys) | gnomAD v4 |
| 5 | g.13769101A>C | CA443253951 | DNAH5 | c.9756T>G (p.Ala3252=) c.9711T>G (p.Ala3237=) n.468T>G c.9864T>G (p.Ala3288=) c.8769T>G (p.Ala2923=) c.4953T>G (p.Ala1651=) c.4506T>G (p.Ala1502=) c.3843T>G (p.Ala1281=) c.8358T>G (p.Ala2786=) | |
| 5 | g.13769101A>G | CA443253953 | DNAH5 | c.9756T>C (p.Ala3252=) c.9711T>C (p.Ala3237=) n.468T>C c.9864T>C (p.Ala3288=) c.8769T>C (p.Ala2923=) c.4953T>C (p.Ala1651=) c.4506T>C (p.Ala1502=) c.3843T>C (p.Ala1281=) c.8358T>C (p.Ala2786=) | |
| 5 | g.13769101A>T | CA443253955 | DNAH5 | c.9756T>A (p.Ala3252=) c.9711T>A (p.Ala3237=) n.468T>A c.9864T>A (p.Ala3288=) c.8769T>A (p.Ala2923=) c.4953T>A (p.Ala1651=) c.4506T>A (p.Ala1502=) c.3843T>A (p.Ala1281=) c.8358T>A (p.Ala2786=) | gnomAD v4 |
| 5 | g.13769102G>A | CA359202282 | DNAH5 | c.9755C>T (p.Ala3252Val) c.9710C>T (p.Ala3237Val) n.467C>T c.9863C>T (p.Ala3288Val) c.8768C>T (p.Ala2923Val) c.4952C>T (p.Ala1651Val) c.4505C>T (p.Ala1502Val) c.3842C>T (p.Ala1281Val) c.8357C>T (p.Ala2786Val) | |
| 5 | g.13769102G>C | CA359202284 | DNAH5 | c.9755C>G (p.Ala3252Gly) c.9710C>G (p.Ala3237Gly) n.467C>G c.9863C>G (p.Ala3288Gly) c.8768C>G (p.Ala2923Gly) c.4952C>G (p.Ala1651Gly) c.4505C>G (p.Ala1502Gly) c.3842C>G (p.Ala1281Gly) c.8357C>G (p.Ala2786Gly) | |
| 5 | g.13769102G>T | CA359202286 | DNAH5 | c.9755C>A (p.Ala3252Asp) c.9710C>A (p.Ala3237Asp) n.467C>A c.9863C>A (p.Ala3288Asp) c.8768C>A (p.Ala2923Asp) c.4952C>A (p.Ala1651Asp) c.4505C>A (p.Ala1502Asp) c.3842C>A (p.Ala1281Asp) c.8357C>A (p.Ala2786Asp) | |
| 5 | g.13769103C>A | CA359202288 | DNAH5 | c.9754G>T (p.Ala3252Ser) c.9709G>T (p.Ala3237Ser) n.466G>T c.9862G>T (p.Ala3288Ser) c.8767G>T (p.Ala2923Ser) c.4951G>T (p.Ala1651Ser) c.4504G>T (p.Ala1502Ser) c.3841G>T (p.Ala1281Ser) c.8356G>T (p.Ala2786Ser) | |
| 5 | g.13769103C>G | CA359202290 | DNAH5 | c.9754G>C (p.Ala3252Pro) c.9709G>C (p.Ala3237Pro) n.466G>C c.9862G>C (p.Ala3288Pro) c.8767G>C (p.Ala2923Pro) c.4951G>C (p.Ala1651Pro) c.4504G>C (p.Ala1502Pro) c.3841G>C (p.Ala1281Pro) c.8356G>C (p.Ala2786Pro) | |
| 5 | g.13769103C>T | CA359202292 | DNAH5 | c.9754G>A (p.Ala3252Thr) c.9709G>A (p.Ala3237Thr) n.466G>A c.9862G>A (p.Ala3288Thr) c.8767G>A (p.Ala2923Thr) c.4951G>A (p.Ala1651Thr) c.4504G>A (p.Ala1502Thr) c.3841G>A (p.Ala1281Thr) c.8356G>A (p.Ala2786Thr) | |
| 5 | g.13769104A>C | CA443253969 | DNAH5 | c.9753T>G (p.Ala3251=) c.9708T>G (p.Ala3236=) n.465T>G c.9861T>G (p.Ala3287=) c.8766T>G (p.Ala2922=) c.4950T>G (p.Ala1650=) c.4503T>G (p.Ala1501=) c.3840T>G (p.Ala1280=) c.8355T>G (p.Ala2785=) | |
| 5 | g.13769104A>G | CA443253978 | DNAH5 | c.9753T>C (p.Ala3251=) c.9708T>C (p.Ala3236=) n.465T>C c.9861T>C (p.Ala3287=) c.8766T>C (p.Ala2922=) c.4950T>C (p.Ala1650=) c.4503T>C (p.Ala1501=) c.3840T>C (p.Ala1280=) c.8355T>C (p.Ala2785=) | |
| 5 | g.13769104A>T | CA443253975 | DNAH5 | c.9753T>A (p.Ala3251=) c.9708T>A (p.Ala3236=) n.465T>A c.9861T>A (p.Ala3287=) c.8766T>A (p.Ala2922=) c.4950T>A (p.Ala1650=) c.4503T>A (p.Ala1501=) c.3840T>A (p.Ala1280=) c.8355T>A (p.Ala2785=) | |
| 5 | g.13769105G>A | CA359202294 | DNAH5 | c.9752C>T (p.Ala3251Val) c.9707C>T (p.Ala3236Val) n.464C>T c.9860C>T (p.Ala3287Val) c.8765C>T (p.Ala2922Val) c.4949C>T (p.Ala1650Val) c.4502C>T (p.Ala1501Val) c.3839C>T (p.Ala1280Val) c.8354C>T (p.Ala2785Val) | |
| 5 | g.13769105G>C | CA359202297 | DNAH5 | c.9752C>G (p.Ala3251Gly) c.9707C>G (p.Ala3236Gly) n.464C>G c.9860C>G (p.Ala3287Gly) c.8765C>G (p.Ala2922Gly) c.4949C>G (p.Ala1650Gly) c.4502C>G (p.Ala1501Gly) c.3839C>G (p.Ala1280Gly) c.8354C>G (p.Ala2785Gly) | |
| 5 | g.13769105G>T | CA359202298 | DNAH5 | c.9752C>A (p.Ala3251Asp) c.9707C>A (p.Ala3236Asp) n.464C>A c.9860C>A (p.Ala3287Asp) c.8765C>A (p.Ala2922Asp) c.4949C>A (p.Ala1650Asp) c.4502C>A (p.Ala1501Asp) c.3839C>A (p.Ala1280Asp) c.8354C>A (p.Ala2785Asp) | |
| 5 | g.13769106C>A | CA3202432 | DNAH5 | c.9751G>T (p.Ala3251Ser) c.9706G>T (p.Ala3236Ser) n.463G>T c.9859G>T (p.Ala3287Ser) c.8764G>T (p.Ala2922Ser) c.4948G>T (p.Ala1650Ser) c.4501G>T (p.Ala1501Ser) c.3838G>T (p.Ala1280Ser) c.8353G>T (p.Ala2785Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769106C= | CA1528430387 | DNAH5 | c.9751G= (p.Ala3251=) c.9706G= (p.Ala3236=) n.463G= c.9859G= (p.Ala3287=) c.8764G= (p.Ala2922=) c.4948G= (p.Ala1650=) c.4501G= (p.Ala1501=) c.3838G= (p.Ala1280=) c.8353G= (p.Ala2785=) | |
| 5 | g.13769106C>G | CA3202433 | DNAH5 | c.9751G>C (p.Ala3251Pro) c.9706G>C (p.Ala3236Pro) n.463G>C c.9859G>C (p.Ala3287Pro) c.8764G>C (p.Ala2922Pro) c.4948G>C (p.Ala1650Pro) c.4501G>C (p.Ala1501Pro) c.3838G>C (p.Ala1280Pro) c.8353G>C (p.Ala2785Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769106C>T | CA359202301 | DNAH5 | c.9751G>A (p.Ala3251Thr) c.9706G>A (p.Ala3236Thr) n.463G>A c.9859G>A (p.Ala3287Thr) c.8764G>A (p.Ala2922Thr) c.4948G>A (p.Ala1650Thr) c.4501G>A (p.Ala1501Thr) c.3838G>A (p.Ala1280Thr) c.8353G>A (p.Ala2785Thr) | dbSNP |
| 5 | g.13769107C>A | CA359202307 | DNAH5 | c.9750G>T (p.Gln3250His) c.9705G>T (p.Gln3235His) n.462G>T c.9858G>T (p.Gln3286His) c.8763G>T (p.Gln2921His) c.4947G>T (p.Gln1649His) c.4500G>T (p.Gln1500His) c.3837G>T (p.Gln1279His) c.8352G>T (p.Gln2784His) | |
| 5 | g.13769107C= | CA1528430388 | DNAH5 | c.9750G= (p.Gln3250=) c.9705G= (p.Gln3235=) n.462G= c.9858G= (p.Gln3286=) c.8763G= (p.Gln2921=) c.4947G= (p.Gln1649=) c.4500G= (p.Gln1500=) c.3837G= (p.Gln1279=) c.8352G= (p.Gln2784=) | |
| 5 | g.13769107C>G | CA359202311 | DNAH5 | c.9750G>C (p.Gln3250His) c.9705G>C (p.Gln3235His) n.462G>C c.9858G>C (p.Gln3286His) c.8763G>C (p.Gln2921His) c.4947G>C (p.Gln1649His) c.4500G>C (p.Gln1500His) c.3837G>C (p.Gln1279His) c.8352G>C (p.Gln2784His) | |
| 5 | g.13769107C>T | CA3202434 | DNAH5 | c.9750G>A (p.Gln3250=) c.9705G>A (p.Gln3235=) n.462G>A c.9858G>A (p.Gln3286=) c.8763G>A (p.Gln2921=) c.4947G>A (p.Gln1649=) c.4500G>A (p.Gln1500=) c.3837G>A (p.Gln1279=) c.8352G>A (p.Gln2784=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769108T>A | CA359202316 | DNAH5 | c.9749A>T (p.Gln3250Leu) c.9704A>T (p.Gln3235Leu) n.461A>T c.9857A>T (p.Gln3286Leu) c.8762A>T (p.Gln2921Leu) c.4946A>T (p.Gln1649Leu) c.4499A>T (p.Gln1500Leu) c.3836A>T (p.Gln1279Leu) c.8351A>T (p.Gln2784Leu) | |
| 5 | g.13769108T>C | CA359202319 | DNAH5 | c.9749A>G (p.Gln3250Arg) c.9704A>G (p.Gln3235Arg) n.461A>G c.9857A>G (p.Gln3286Arg) c.8762A>G (p.Gln2921Arg) c.4946A>G (p.Gln1649Arg) c.4499A>G (p.Gln1500Arg) c.3836A>G (p.Gln1279Arg) c.8351A>G (p.Gln2784Arg) | |
| 5 | g.13769108T>G | CA359202321 | DNAH5 | c.9749A>C (p.Gln3250Pro) c.9704A>C (p.Gln3235Pro) n.461A>C c.9857A>C (p.Gln3286Pro) c.8762A>C (p.Gln2921Pro) c.4946A>C (p.Gln1649Pro) c.4499A>C (p.Gln1500Pro) c.3836A>C (p.Gln1279Pro) c.8351A>C (p.Gln2784Pro) | |
| 5 | g.13769109G>A | CA359202327 | DNAH5 | c.9748C>T (p.Gln3250Ter) c.9703C>T (p.Gln3235Ter) n.460C>T c.9856C>T (p.Gln3286Ter) c.8761C>T (p.Gln2921Ter) c.4945C>T (p.Gln1649Ter) c.4498C>T (p.Gln1500Ter) c.3835C>T (p.Gln1279Ter) c.8350C>T (p.Gln2784Ter) | |
| 5 | g.13769109G>C | CA359202331 | DNAH5 | c.9748C>G (p.Gln3250Glu) c.9703C>G (p.Gln3235Glu) n.460C>G c.9856C>G (p.Gln3286Glu) c.8761C>G (p.Gln2921Glu) c.4945C>G (p.Gln1649Glu) c.4498C>G (p.Gln1500Glu) c.3835C>G (p.Gln1279Glu) c.8350C>G (p.Gln2784Glu) | dbSNP |
| 5 | g.13769109G= | CA1528430389 | DNAH5 | c.9748C= (p.Gln3250=) c.9703C= (p.Gln3235=) n.460C= c.9856C= (p.Gln3286=) c.8761C= (p.Gln2921=) c.4945C= (p.Gln1649=) c.4498C= (p.Gln1500=) c.3835C= (p.Gln1279=) c.8350C= (p.Gln2784=) | |
| 5 | g.13769109G>T | CA359202335 | DNAH5 | c.9748C>A (p.Gln3250Lys) c.9703C>A (p.Gln3235Lys) n.460C>A c.9856C>A (p.Gln3286Lys) c.8761C>A (p.Gln2921Lys) c.4945C>A (p.Gln1649Lys) c.4498C>A (p.Gln1500Lys) c.3835C>A (p.Gln1279Lys) c.8350C>A (p.Gln2784Lys) | |
| 5 | g.13769110T>A | CA443254015 | DNAH5 | c.9747A>T (p.Ala3249=) c.9702A>T (p.Ala3234=) n.459A>T c.9855A>T (p.Ala3285=) c.8760A>T (p.Ala2920=) c.4944A>T (p.Ala1648=) c.4497A>T (p.Ala1499=) c.3834A>T (p.Ala1278=) c.8349A>T (p.Ala2783=) | |
| 5 | g.13769110T>C | CA443254017 | DNAH5 | c.9747A>G (p.Ala3249=) c.9702A>G (p.Ala3234=) n.459A>G c.9855A>G (p.Ala3285=) c.8760A>G (p.Ala2920=) c.4944A>G (p.Ala1648=) c.4497A>G (p.Ala1499=) c.3834A>G (p.Ala1278=) c.8349A>G (p.Ala2783=) | gnomAD v4 |
| 5 | g.13769110T>G | CA443254019 | DNAH5 | c.9747A>C (p.Ala3249=) c.9702A>C (p.Ala3234=) n.459A>C c.9855A>C (p.Ala3285=) c.8760A>C (p.Ala2920=) c.4944A>C (p.Ala1648=) c.4497A>C (p.Ala1499=) c.3834A>C (p.Ala1278=) c.8349A>C (p.Ala2783=) | |
| 5 | g.13769111G>A | CA359202336 | DNAH5 | c.9746C>T (p.Ala3249Val) c.9701C>T (p.Ala3234Val) n.458C>T c.9854C>T (p.Ala3285Val) c.8759C>T (p.Ala2920Val) c.4943C>T (p.Ala1648Val) c.4496C>T (p.Ala1499Val) c.3833C>T (p.Ala1278Val) c.8348C>T (p.Ala2783Val) | |
| 5 | g.13769111G>C | CA359202337 | DNAH5 | c.9746C>G (p.Ala3249Gly) c.9701C>G (p.Ala3234Gly) n.458C>G c.9854C>G (p.Ala3285Gly) c.8759C>G (p.Ala2920Gly) c.4943C>G (p.Ala1648Gly) c.4496C>G (p.Ala1499Gly) c.3833C>G (p.Ala1278Gly) c.8348C>G (p.Ala2783Gly) | |
| 5 | g.13769111G>T | CA359202338 | DNAH5 | c.9746C>A (p.Ala3249Glu) c.9701C>A (p.Ala3234Glu) n.458C>A c.9854C>A (p.Ala3285Glu) c.8759C>A (p.Ala2920Glu) c.4943C>A (p.Ala1648Glu) c.4496C>A (p.Ala1499Glu) c.3833C>A (p.Ala1278Glu) c.8348C>A (p.Ala2783Glu) | |
| 5 | g.13769112C>A | CA359202341 | DNAH5 | c.9745G>T (p.Ala3249Ser) c.9700G>T (p.Ala3234Ser) n.457G>T c.9853G>T (p.Ala3285Ser) c.8758G>T (p.Ala2920Ser) c.4942G>T (p.Ala1648Ser) c.4495G>T (p.Ala1499Ser) c.3832G>T (p.Ala1278Ser) c.8347G>T (p.Ala2783Ser) | gnomAD v4 |
| 5 | g.13769112C= | CA1528430390 | DNAH5 | c.9745G= (p.Ala3249=) c.9700G= (p.Ala3234=) n.457G= c.9853G= (p.Ala3285=) c.8758G= (p.Ala2920=) c.4942G= (p.Ala1648=) c.4495G= (p.Ala1499=) c.3832G= (p.Ala1278=) c.8347G= (p.Ala2783=) | |
| 5 | g.13769112C>G | CA3202435 | DNAH5 | c.9745G>C (p.Ala3249Pro) c.9700G>C (p.Ala3234Pro) n.457G>C c.9853G>C (p.Ala3285Pro) c.8758G>C (p.Ala2920Pro) c.4942G>C (p.Ala1648Pro) c.4495G>C (p.Ala1499Pro) c.3832G>C (p.Ala1278Pro) c.8347G>C (p.Ala2783Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769112C>T | CA3202436 | DNAH5 | c.9745G>A (p.Ala3249Thr) c.9700G>A (p.Ala3234Thr) n.457G>A c.9853G>A (p.Ala3285Thr) c.8758G>A (p.Ala2920Thr) c.4942G>A (p.Ala1648Thr) c.4495G>A (p.Ala1499Thr) c.3832G>A (p.Ala1278Thr) c.8347G>A (p.Ala2783Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769113T>A | CA359202352 | DNAH5 | c.9744A>T (p.Lys3248Asn) c.9699A>T (p.Lys3233Asn) n.456A>T c.9852A>T (p.Lys3284Asn) c.8757A>T (p.Lys2919Asn) c.4941A>T (p.Lys1647Asn) c.4494A>T (p.Lys1498Asn) c.3831A>T (p.Lys1277Asn) c.8346A>T (p.Lys2782Asn) | |
| 5 | g.13769113T>C | CA443254029 | DNAH5 | c.9744A>G (p.Lys3248=) c.9699A>G (p.Lys3233=) n.456A>G c.9852A>G (p.Lys3284=) c.8757A>G (p.Lys2919=) c.4941A>G (p.Lys1647=) c.4494A>G (p.Lys1498=) c.3831A>G (p.Lys1277=) c.8346A>G (p.Lys2782=) | |
| 5 | g.13769113T>G | CA359202351 | DNAH5 | c.9744A>C (p.Lys3248Asn) c.9699A>C (p.Lys3233Asn) n.456A>C c.9852A>C (p.Lys3284Asn) c.8757A>C (p.Lys2919Asn) c.4941A>C (p.Lys1647Asn) c.4494A>C (p.Lys1498Asn) c.3831A>C (p.Lys1277Asn) c.8346A>C (p.Lys2782Asn) | |
| 5 | g.13769114T>A | CA359202355 | DNAH5 | c.9743A>T (p.Lys3248Ile) c.9698A>T (p.Lys3233Ile) n.455A>T c.9851A>T (p.Lys3284Ile) c.8756A>T (p.Lys2919Ile) c.4940A>T (p.Lys1647Ile) c.4493A>T (p.Lys1498Ile) c.3830A>T (p.Lys1277Ile) c.8345A>T (p.Lys2782Ile) | |
| 5 | g.13769114T>C | CA359202356 | DNAH5 | c.9743A>G (p.Lys3248Arg) c.9698A>G (p.Lys3233Arg) n.455A>G c.9851A>G (p.Lys3284Arg) c.8756A>G (p.Lys2919Arg) c.4940A>G (p.Lys1647Arg) c.4493A>G (p.Lys1498Arg) c.3830A>G (p.Lys1277Arg) c.8345A>G (p.Lys2782Arg) | |
| 5 | g.13769114T>G | CA359202357 | DNAH5 | c.9743A>C (p.Lys3248Thr) c.9698A>C (p.Lys3233Thr) n.455A>C c.9851A>C (p.Lys3284Thr) c.8756A>C (p.Lys2919Thr) c.4940A>C (p.Lys1647Thr) c.4493A>C (p.Lys1498Thr) c.3830A>C (p.Lys1277Thr) c.8345A>C (p.Lys2782Thr) | |
| 5 | g.13769115T>A | CA359202358 | DNAH5 | c.9742A>T (p.Lys3248Ter) c.9697A>T (p.Lys3233Ter) n.454A>T c.9850A>T (p.Lys3284Ter) c.8755A>T (p.Lys2919Ter) c.4939A>T (p.Lys1647Ter) c.4492A>T (p.Lys1498Ter) c.3829A>T (p.Lys1277Ter) c.8344A>T (p.Lys2782Ter) | |
| 5 | g.13769115T>C | CA359202360 | DNAH5 | c.9742A>G (p.Lys3248Glu) c.9697A>G (p.Lys3233Glu) n.454A>G c.9850A>G (p.Lys3284Glu) c.8755A>G (p.Lys2919Glu) c.4939A>G (p.Lys1647Glu) c.4492A>G (p.Lys1498Glu) c.3829A>G (p.Lys1277Glu) c.8344A>G (p.Lys2782Glu) | |
| 5 | g.13769115T>G | CA359202362 | DNAH5 | c.9742A>C (p.Lys3248Gln) c.9697A>C (p.Lys3233Gln) n.454A>C c.9850A>C (p.Lys3284Gln) c.8755A>C (p.Lys2919Gln) c.4939A>C (p.Lys1647Gln) c.4492A>C (p.Lys1498Gln) c.3829A>C (p.Lys1277Gln) c.8344A>C (p.Lys2782Gln) | |
| 5 | g.13769116C>A | CA359202368 | DNAH5 | c.9741G>T (p.Met3247Ile) c.9696G>T (p.Met3232Ile) n.453G>T c.9849G>T (p.Met3283Ile) c.8754G>T (p.Met2918Ile) c.4938G>T (p.Met1646Ile) c.4491G>T (p.Met1497Ile) c.3828G>T (p.Met1276Ile) c.8343G>T (p.Met2781Ile) | |
| 5 | g.13769116C>G | CA359202377 | DNAH5 | c.9741G>C (p.Met3247Ile) c.9696G>C (p.Met3232Ile) n.453G>C c.9849G>C (p.Met3283Ile) c.8754G>C (p.Met2918Ile) c.4938G>C (p.Met1646Ile) c.4491G>C (p.Met1497Ile) c.3828G>C (p.Met1276Ile) c.8343G>C (p.Met2781Ile) | |
| 5 | g.13769116C>T | CA359202380 | DNAH5 | c.9741G>A (p.Met3247Ile) c.9696G>A (p.Met3232Ile) n.453G>A c.9849G>A (p.Met3283Ile) c.8754G>A (p.Met2918Ile) c.4938G>A (p.Met1646Ile) c.4491G>A (p.Met1497Ile) c.3828G>A (p.Met1276Ile) c.8343G>A (p.Met2781Ile) | COSMIC |
| 5 | g.13769117A>C | CA359202382 | DNAH5 | c.9740T>G (p.Met3247Arg) c.9695T>G (p.Met3232Arg) n.452T>G c.9848T>G (p.Met3283Arg) c.8753T>G (p.Met2918Arg) c.4937T>G (p.Met1646Arg) c.4490T>G (p.Met1497Arg) c.3827T>G (p.Met1276Arg) c.8342T>G (p.Met2781Arg) | gnomAD v4 |
| 5 | g.13769117A>G | CA359202386 | DNAH5 | c.9740T>C (p.Met3247Thr) c.9695T>C (p.Met3232Thr) n.452T>C c.9848T>C (p.Met3283Thr) c.8753T>C (p.Met2918Thr) c.4937T>C (p.Met1646Thr) c.4490T>C (p.Met1497Thr) c.3827T>C (p.Met1276Thr) c.8342T>C (p.Met2781Thr) | |
| 5 | g.13769117A>T | CA359202391 | DNAH5 | c.9740T>A (p.Met3247Lys) c.9695T>A (p.Met3232Lys) n.452T>A c.9848T>A (p.Met3283Lys) c.8753T>A (p.Met2918Lys) c.4937T>A (p.Met1646Lys) c.4490T>A (p.Met1497Lys) c.3827T>A (p.Met1276Lys) c.8342T>A (p.Met2781Lys) | |
| 5 | g.13769118T>A | CA359202396 | DNAH5 | c.9739A>T (p.Met3247Leu) c.9694A>T (p.Met3232Leu) n.451A>T c.9847A>T (p.Met3283Leu) c.8752A>T (p.Met2918Leu) c.4936A>T (p.Met1646Leu) c.4489A>T (p.Met1497Leu) c.3826A>T (p.Met1276Leu) c.8341A>T (p.Met2781Leu) | |
| 5 | g.13769118T>C | CA3202437 | DNAH5 | c.9739A>G (p.Met3247Val) c.9694A>G (p.Met3232Val) n.451A>G c.9847A>G (p.Met3283Val) c.8752A>G (p.Met2918Val) c.4936A>G (p.Met1646Val) c.4489A>G (p.Met1497Val) c.3826A>G (p.Met1276Val) c.8341A>G (p.Met2781Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.13769118T>G | CA359202394 | DNAH5 | c.9739A>C (p.Met3247Leu) c.9694A>C (p.Met3232Leu) n.451A>C c.9847A>C (p.Met3283Leu) c.8752A>C (p.Met2918Leu) c.4936A>C (p.Met1646Leu) c.4489A>C (p.Met1497Leu) c.3826A>C (p.Met1276Leu) c.8341A>C (p.Met2781Leu) | |
| 5 | g.13769118T= | CA1528430391 | DNAH5 | c.9739A= (p.Met3247=) c.9694A= (p.Met3232=) n.451A= c.9847A= (p.Met3283=) c.8752A= (p.Met2918=) c.4936A= (p.Met1646=) c.4489A= (p.Met1497=) c.3826A= (p.Met1276=) c.8341A= (p.Met2781=) | |
| 5 | g.13769119T>A | CA443254061 | DNAH5 | c.9738A>T (p.Thr3246=) c.9693A>T (p.Thr3231=) n.450A>T c.9846A>T (p.Thr3282=) c.8751A>T (p.Thr2917=) c.4935A>T (p.Thr1645=) c.4488A>T (p.Thr1496=) c.3825A>T (p.Thr1275=) c.8340A>T (p.Thr2780=) | |
| 5 | g.13769119T>C | CA443254063 | DNAH5 | c.9738A>G (p.Thr3246=) c.9693A>G (p.Thr3231=) n.450A>G c.9846A>G (p.Thr3282=) c.8751A>G (p.Thr2917=) c.4935A>G (p.Thr1645=) c.4488A>G (p.Thr1496=) c.3825A>G (p.Thr1275=) c.8340A>G (p.Thr2780=) | |
| 5 | g.13769119T>G | CA443254065 | DNAH5 | c.9738A>C (p.Thr3246=) c.9693A>C (p.Thr3231=) n.450A>C c.9846A>C (p.Thr3282=) c.8751A>C (p.Thr2917=) c.4935A>C (p.Thr1645=) c.4488A>C (p.Thr1496=) c.3825A>C (p.Thr1275=) c.8340A>C (p.Thr2780=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13769119T= | CA1528430392 | DNAH5 | c.9738A= (p.Thr3246=) c.9693A= (p.Thr3231=) n.450A= c.9846A= (p.Thr3282=) c.8751A= (p.Thr2917=) c.4935A= (p.Thr1645=) c.4488A= (p.Thr1496=) c.3825A= (p.Thr1275=) c.8340A= (p.Thr2780=) | |
| 5 | g.13769120G>A | CA359202397 | DNAH5 | c.9737C>T (p.Thr3246Ile) c.9692C>T (p.Thr3231Ile) n.449C>T c.9845C>T (p.Thr3282Ile) c.8750C>T (p.Thr2917Ile) c.4934C>T (p.Thr1645Ile) c.4487C>T (p.Thr1496Ile) c.3824C>T (p.Thr1275Ile) c.8339C>T (p.Thr2780Ile) | |
| 5 | g.13769120G>C | CA359202398 | DNAH5 | c.9737C>G (p.Thr3246Arg) c.9692C>G (p.Thr3231Arg) n.449C>G c.9845C>G (p.Thr3282Arg) c.8750C>G (p.Thr2917Arg) c.4934C>G (p.Thr1645Arg) c.4487C>G (p.Thr1496Arg) c.3824C>G (p.Thr1275Arg) c.8339C>G (p.Thr2780Arg) | |
| 5 | g.13769120G>T | CA359202399 | DNAH5 | c.9737C>A (p.Thr3246Lys) c.9692C>A (p.Thr3231Lys) n.449C>A c.9845C>A (p.Thr3282Lys) c.8750C>A (p.Thr2917Lys) c.4934C>A (p.Thr1645Lys) c.4487C>A (p.Thr1496Lys) c.3824C>A (p.Thr1275Lys) c.8339C>A (p.Thr2780Lys) | |
| 5 | g.13769120_13769121insC | CA2580072200 | DNAH5 | c.9736_9737insG (p.Thr3246SerfsTer8) c.9691_9692insG (p.Thr3231SerfsTer8) n.448_449insG c.9844_9845insG (p.Thr3282SerfsTer8) c.8749_8750insG (p.Thr2917SerfsTer8) c.4933_4934insG (p.Thr1645SerfsTer8) c.4486_4487insG (p.Thr1496SerfsTer8) c.3823_3824insG (p.Thr1275SerfsTer8) c.8338_8339insG (p.Thr2780SerfsTer8) | ClinVar |
| 5 | g.13769121T>A | CA359202401 | DNAH5 | c.9736A>T (p.Thr3246Ser) c.9691A>T (p.Thr3231Ser) n.448A>T c.9844A>T (p.Thr3282Ser) c.8749A>T (p.Thr2917Ser) c.4933A>T (p.Thr1645Ser) c.4486A>T (p.Thr1496Ser) c.3823A>T (p.Thr1275Ser) c.8338A>T (p.Thr2780Ser) | |
| 5 | g.13769121T>C | CA359202403 | DNAH5 | c.9736A>G (p.Thr3246Ala) c.9691A>G (p.Thr3231Ala) n.448A>G c.9844A>G (p.Thr3282Ala) c.8749A>G (p.Thr2917Ala) c.4933A>G (p.Thr1645Ala) c.4486A>G (p.Thr1496Ala) c.3823A>G (p.Thr1275Ala) c.8338A>G (p.Thr2780Ala) | |
| 5 | g.13769121T>G | CA359202404 | DNAH5 | c.9736A>C (p.Thr3246Pro) c.9691A>C (p.Thr3231Pro) n.448A>C c.9844A>C (p.Thr3282Pro) c.8749A>C (p.Thr2917Pro) c.4933A>C (p.Thr1645Pro) c.4486A>C (p.Thr1496Pro) c.3823A>C (p.Thr1275Pro) c.8338A>C (p.Thr2780Pro) | |
| 5 | g.13769122C>A | CA443254080 | DNAH5 | c.9735G>T (p.Val3245=) c.9690G>T (p.Val3230=) n.447G>T c.9843G>T (p.Val3281=) c.8748G>T (p.Val2916=) c.4932G>T (p.Val1644=) c.4485G>T (p.Val1495=) c.3822G>T (p.Val1274=) c.8337G>T (p.Val2779=) | |
| 5 | g.13769122C= | CA1528430393 | DNAH5 | c.9735G= (p.Val3245=) c.9690G= (p.Val3230=) n.447G= c.9843G= (p.Val3281=) c.8748G= (p.Val2916=) c.4932G= (p.Val1644=) c.4485G= (p.Val1495=) c.3822G= (p.Val1274=) c.8337G= (p.Val2779=) | |
| 5 | g.13769122C>G | CA443254082 | DNAH5 | c.9735G>C (p.Val3245=) c.9690G>C (p.Val3230=) n.447G>C c.9843G>C (p.Val3281=) c.8748G>C (p.Val2916=) c.4932G>C (p.Val1644=) c.4485G>C (p.Val1495=) c.3822G>C (p.Val1274=) c.8337G>C (p.Val2779=) | |
| 5 | g.13769122C>T | CA3202438 | DNAH5 | c.9735G>A (p.Val3245=) c.9690G>A (p.Val3230=) n.447G>A c.9843G>A (p.Val3281=) c.8748G>A (p.Val2916=) c.4932G>A (p.Val1644=) c.4485G>A (p.Val1495=) c.3822G>A (p.Val1274=) c.8337G>A (p.Val2779=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13769123A= | CA1528430394 | DNAH5 | c.9734T= (p.Val3245=) c.9689T= (p.Val3230=) n.446T= c.9842T= (p.Val3281=) c.8747T= (p.Val2916=) c.4931T= (p.Val1644=) c.4484T= (p.Val1495=) c.3821T= (p.Val1274=) c.8336T= (p.Val2779=) | |
| 5 | g.13769123A>C | CA359202410 | DNAH5 | c.9734T>G (p.Val3245Gly) c.9689T>G (p.Val3230Gly) n.446T>G c.9842T>G (p.Val3281Gly) c.8747T>G (p.Val2916Gly) c.4931T>G (p.Val1644Gly) c.4484T>G (p.Val1495Gly) c.3821T>G (p.Val1274Gly) c.8336T>G (p.Val2779Gly) | |
| 5 | g.13769123A>G | CA359202416 | DNAH5 | c.9734T>C (p.Val3245Ala) c.9689T>C (p.Val3230Ala) n.446T>C c.9842T>C (p.Val3281Ala) c.8747T>C (p.Val2916Ala) c.4931T>C (p.Val1644Ala) c.4484T>C (p.Val1495Ala) c.3821T>C (p.Val1274Ala) c.8336T>C (p.Val2779Ala) | dbSNP |
| 5 | g.13769123A>T | CA359202418 | DNAH5 | c.9734T>A (p.Val3245Glu) c.9689T>A (p.Val3230Glu) n.446T>A c.9842T>A (p.Val3281Glu) c.8747T>A (p.Val2916Glu) c.4931T>A (p.Val1644Glu) c.4484T>A (p.Val1495Glu) c.3821T>A (p.Val1274Glu) c.8336T>A (p.Val2779Glu) | |
| 5 | g.13769124C>A | CA359202422 | DNAH5 | c.9733G>T (p.Val3245Leu) c.9688G>T (p.Val3230Leu) n.445G>T c.9841G>T (p.Val3281Leu) c.8746G>T (p.Val2916Leu) c.4930G>T (p.Val1644Leu) c.4483G>T (p.Val1495Leu) c.3820G>T (p.Val1274Leu) c.8335G>T (p.Val2779Leu) | dbSNP |
| 5 | g.13769124C= | CA1528430395 | DNAH5 | c.9733G= (p.Val3245=) c.9688G= (p.Val3230=) n.445G= c.9841G= (p.Val3281=) c.8746G= (p.Val2916=) c.4930G= (p.Val1644=) c.4483G= (p.Val1495=) c.3820G= (p.Val1274=) c.8335G= (p.Val2779=) | |
| 5 | g.13769124C>G | CA359202426 | DNAH5 | c.9733G>C (p.Val3245Leu) c.9688G>C (p.Val3230Leu) n.445G>C c.9841G>C (p.Val3281Leu) c.8746G>C (p.Val2916Leu) c.4930G>C (p.Val1644Leu) c.4483G>C (p.Val1495Leu) c.3820G>C (p.Val1274Leu) c.8335G>C (p.Val2779Leu) | |
| 5 | g.13769124C>T | CA359202428 | DNAH5 | c.9733G>A (p.Val3245Met) c.9688G>A (p.Val3230Met) n.445G>A c.9841G>A (p.Val3281Met) c.8746G>A (p.Val2916Met) c.4930G>A (p.Val1644Met) c.4483G>A (p.Val1495Met) c.3820G>A (p.Val1274Met) c.8335G>A (p.Val2779Met) | COSMIC |
| 5 | g.13769125T>A | CA359202434 | DNAH5 | c.9732A>T (p.Glu3244Asp) c.9687A>T (p.Glu3229Asp) n.444A>T c.9840A>T (p.Glu3280Asp) c.8745A>T (p.Glu2915Asp) c.4929A>T (p.Glu1643Asp) c.4482A>T (p.Glu1494Asp) c.3819A>T (p.Glu1273Asp) c.8334A>T (p.Glu2778Asp) | |
| 5 | g.13769125T>C | CA443254105 | DNAH5 | c.9732A>G (p.Glu3244=) c.9687A>G (p.Glu3229=) n.444A>G c.9840A>G (p.Glu3280=) c.8745A>G (p.Glu2915=) c.4929A>G (p.Glu1643=) c.4482A>G (p.Glu1494=) c.3819A>G (p.Glu1273=) c.8334A>G (p.Glu2778=) | dbSNP |
| 5 | g.13769125T>G | CA359202431 | DNAH5 | c.9732A>C (p.Glu3244Asp) c.9687A>C (p.Glu3229Asp) n.444A>C c.9840A>C (p.Glu3280Asp) c.8745A>C (p.Glu2915Asp) c.4929A>C (p.Glu1643Asp) c.4482A>C (p.Glu1494Asp) c.3819A>C (p.Glu1273Asp) c.8334A>C (p.Glu2778Asp) | |
| 5 | g.13769125T= | CA1528430397 | DNAH5 | c.9732A= (p.Glu3244=) c.9687A= (p.Glu3229=) n.444A= c.9840A= (p.Glu3280=) c.8745A= (p.Glu2915=) c.4929A= (p.Glu1643=) c.4482A= (p.Glu1494=) c.3819A= (p.Glu1273=) c.8334A= (p.Glu2778=) | |
| 5 | g.13769127_13769131dup | CA1528430396 | DNAH5 | c.9728_9732dup (p.Val3245LysfsTer3) c.9683_9687dup (p.Val3230LysfsTer3) n.440_444dup c.9836_9840dup (p.Val3281LysfsTer3) c.8741_8745dup (p.Val2916LysfsTer3) c.4925_4929dup (p.Val1644LysfsTer3) c.4478_4482dup (p.Val1495LysfsTer3) c.3815_3819dup (p.Val1274LysfsTer3) c.8330_8334dup (p.Val2779LysfsTer3) | dbSNP |
| 5 | g.13769127_13769131del | CA2592519943 | DNAH5 | c.9728_9732del (p.Lys3243SerfsTer9) c.9683_9687del (p.Lys3228SerfsTer9) n.440_444del c.9836_9840del (p.Lys3279SerfsTer9) c.8741_8745del (p.Lys2914SerfsTer9) c.4925_4929del (p.Lys1642SerfsTer9) c.4478_4482del (p.Lys1493SerfsTer9) c.3815_3819del (p.Lys1272SerfsTer9) c.8330_8334del (p.Lys2777SerfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13769126T>A | CA359202446 | DNAH5 | c.9731A>T (p.Glu3244Val) c.9686A>T (p.Glu3229Val) n.443A>T c.9839A>T (p.Glu3280Val) c.8744A>T (p.Glu2915Val) c.4928A>T (p.Glu1643Val) c.4481A>T (p.Glu1494Val) c.3818A>T (p.Glu1273Val) c.8333A>T (p.Glu2778Val) | |
| 5 | g.13769126T>C | CA359202451 | DNAH5 | c.9731A>G (p.Glu3244Gly) c.9686A>G (p.Glu3229Gly) n.443A>G c.9839A>G (p.Glu3280Gly) c.8744A>G (p.Glu2915Gly) c.4928A>G (p.Glu1643Gly) c.4481A>G (p.Glu1494Gly) c.3818A>G (p.Glu1273Gly) c.8333A>G (p.Glu2778Gly) | |
| 5 | g.13769126T>G | CA359202453 | DNAH5 | c.9731A>C (p.Glu3244Ala) c.9686A>C (p.Glu3229Ala) n.443A>C c.9839A>C (p.Glu3280Ala) c.8744A>C (p.Glu2915Ala) c.4928A>C (p.Glu1643Ala) c.4481A>C (p.Glu1494Ala) c.3818A>C (p.Glu1273Ala) c.8333A>C (p.Glu2778Ala) | |
| 5 | g.13769126_13769127delinsTC | CA1528430398 | DNAH5 | c.9730_9731delinsGA (p.Glu3244=) c.9685_9686delinsGA (p.Glu3229=) n.442_443delinsGA c.9838_9839delinsGA (p.Glu3280=) c.8743_8744delinsGA (p.Glu2915=) c.4927_4928delinsGA (p.Glu1643=) c.4480_4481delinsGA (p.Glu1494=) c.3817_3818delinsGA (p.Glu1273=) c.8332_8333delinsGA (p.Glu2778=) | |
| 5 | g.13769127del | CA804449643 | DNAH5 | c.9730del (p.Glu3244LysfsTer2) c.9685del (p.Glu3229LysfsTer2) n.442del c.9838del (p.Glu3280LysfsTer2) c.8743del (p.Glu2915LysfsTer2) c.4927del (p.Glu1643LysfsTer2) c.4480del (p.Glu1494LysfsTer2) c.3817del (p.Glu1273LysfsTer2) c.8332del (p.Glu2778LysfsTer2) | ClinVar dbSNP |
| 5 | g.13769127C>A | CA359202457 | DNAH5 | c.9730G>T (p.Glu3244Ter) c.9685G>T (p.Glu3229Ter) n.442G>T c.9838G>T (p.Glu3280Ter) c.8743G>T (p.Glu2915Ter) c.4927G>T (p.Glu1643Ter) c.4480G>T (p.Glu1494Ter) c.3817G>T (p.Glu1273Ter) c.8332G>T (p.Glu2778Ter) | COSMIC |
| 5 | g.13769127C>G | CA359202459 | DNAH5 | c.9730G>C (p.Glu3244Gln) c.9685G>C (p.Glu3229Gln) n.442G>C c.9838G>C (p.Glu3280Gln) c.8743G>C (p.Glu2915Gln) c.4927G>C (p.Glu1643Gln) c.4480G>C (p.Glu1494Gln) c.3817G>C (p.Glu1273Gln) c.8332G>C (p.Glu2778Gln) | |
| 5 | g.13769127C>T | CA359202461 | DNAH5 | c.9730G>A (p.Glu3244Lys) c.9685G>A (p.Glu3229Lys) n.442G>A c.9838G>A (p.Glu3280Lys) c.8743G>A (p.Glu2915Lys) c.4927G>A (p.Glu1643Lys) c.4480G>A (p.Glu1494Lys) c.3817G>A (p.Glu1273Lys) c.8332G>A (p.Glu2778Lys) | COSMIC |
| 5 | g.13769127_13769130delinsCTTT | CA1528430399 | DNAH5 | c.9727_9730delinsAAAG (p.Lys3243=) c.9682_9685delinsAAAG (p.Lys3228=) n.439_442delinsAAAG c.9835_9838delinsAAAG (p.Lys3279=) c.8740_8743delinsAAAG (p.Lys2914=) c.4924_4927delinsAAAG (p.Lys1642=) c.4477_4480delinsAAAG (p.Lys1493=) c.3814_3817delinsAAAG (p.Lys1272=) c.8329_8332delinsAAAG (p.Lys2777=) | |
| 5 | g.13769128T>A | CA359202463 | DNAH5 | c.9729A>T (p.Lys3243Asn) c.9684A>T (p.Lys3228Asn) n.441A>T c.9837A>T (p.Lys3279Asn) c.8742A>T (p.Lys2914Asn) c.4926A>T (p.Lys1642Asn) c.4479A>T (p.Lys1493Asn) c.3816A>T (p.Lys1272Asn) c.8331A>T (p.Lys2777Asn) | |
| 5 | g.13769128T>C | CA443254127 | DNAH5 | c.9729A>G (p.Lys3243=) c.9684A>G (p.Lys3228=) n.441A>G c.9837A>G (p.Lys3279=) c.8742A>G (p.Lys2914=) c.4926A>G (p.Lys1642=) c.4479A>G (p.Lys1493=) c.3816A>G (p.Lys1272=) c.8331A>G (p.Lys2777=) | |
| 5 | g.13769128T>G | CA359202466 | DNAH5 | c.9729A>C (p.Lys3243Asn) c.9684A>C (p.Lys3228Asn) n.441A>C c.9837A>C (p.Lys3279Asn) c.8742A>C (p.Lys2914Asn) c.4926A>C (p.Lys1642Asn) c.4479A>C (p.Lys1493Asn) c.3816A>C (p.Lys1272Asn) c.8331A>C (p.Lys2777Asn) | |
| 5 | g.13769129_13769131del | CA3202439 | DNAH5 | c.9727_9729del (p.Lys3243del) c.9682_9684del (p.Lys3228del) n.439_441del c.9835_9837del (p.Lys3279del) c.8740_8742del (p.Lys2914del) c.4924_4926del (p.Lys1642del) c.4477_4479del (p.Lys1493del) c.3814_3816del (p.Lys1272del) c.8329_8331del (p.Lys2777del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769129T>A | CA359202473 | DNAH5 | c.9728A>T (p.Lys3243Ile) c.9683A>T (p.Lys3228Ile) n.440A>T c.9836A>T (p.Lys3279Ile) c.8741A>T (p.Lys2914Ile) c.4925A>T (p.Lys1642Ile) c.4478A>T (p.Lys1493Ile) c.3815A>T (p.Lys1272Ile) c.8330A>T (p.Lys2777Ile) | |
| 5 | g.13769129T>C | CA359202477 | DNAH5 | c.9728A>G (p.Lys3243Arg) c.9683A>G (p.Lys3228Arg) n.440A>G c.9836A>G (p.Lys3279Arg) c.8741A>G (p.Lys2914Arg) c.4925A>G (p.Lys1642Arg) c.4478A>G (p.Lys1493Arg) c.3815A>G (p.Lys1272Arg) c.8330A>G (p.Lys2777Arg) | |
| 5 | g.13769129T>G | CA359202479 | DNAH5 | c.9728A>C (p.Lys3243Thr) c.9683A>C (p.Lys3228Thr) n.440A>C c.9836A>C (p.Lys3279Thr) c.8741A>C (p.Lys2914Thr) c.4925A>C (p.Lys1642Thr) c.4478A>C (p.Lys1493Thr) c.3815A>C (p.Lys1272Thr) c.8330A>C (p.Lys2777Thr) | |
| 5 | g.13769130T>A | CA359202488 | DNAH5 | c.9727A>T (p.Lys3243Ter) c.9682A>T (p.Lys3228Ter) n.439A>T c.9835A>T (p.Lys3279Ter) c.8740A>T (p.Lys2914Ter) c.4924A>T (p.Lys1642Ter) c.4477A>T (p.Lys1493Ter) c.3814A>T (p.Lys1272Ter) c.8329A>T (p.Lys2777Ter) | |
| 5 | g.13769130T>C | CA359202487 | DNAH5 | c.9727A>G (p.Lys3243Glu) c.9682A>G (p.Lys3228Glu) n.439A>G c.9835A>G (p.Lys3279Glu) c.8740A>G (p.Lys2914Glu) c.4924A>G (p.Lys1642Glu) c.4477A>G (p.Lys1493Glu) c.3814A>G (p.Lys1272Glu) c.8329A>G (p.Lys2777Glu) | |
| 5 | g.13769130T>G | CA359202484 | DNAH5 | c.9727A>C (p.Lys3243Gln) c.9682A>C (p.Lys3228Gln) n.439A>C c.9835A>C (p.Lys3279Gln) c.8740A>C (p.Lys2914Gln) c.4924A>C (p.Lys1642Gln) c.4477A>C (p.Lys1493Gln) c.3814A>C (p.Lys1272Gln) c.8329A>C (p.Lys2777Gln) | |
| 5 | g.13769131T>A | CA359202489 | DNAH5 | c.9726A>T (p.Leu3242Phe) c.9681A>T (p.Leu3227Phe) n.438A>T c.9834A>T (p.Leu3278Phe) c.8739A>T (p.Leu2913Phe) c.4923A>T (p.Leu1641Phe) c.4476A>T (p.Leu1492Phe) c.3813A>T (p.Leu1271Phe) c.8328A>T (p.Leu2776Phe) | |
| 5 | g.13769131T>C | CA443254146 | DNAH5 | c.9726A>G (p.Leu3242=) c.9681A>G (p.Leu3227=) n.438A>G c.9834A>G (p.Leu3278=) c.8739A>G (p.Leu2913=) c.4923A>G (p.Leu1641=) c.4476A>G (p.Leu1492=) c.3813A>G (p.Leu1271=) c.8328A>G (p.Leu2776=) | |
| 5 | g.13769131T>G | CA359202491 | DNAH5 | c.9726A>C (p.Leu3242Phe) c.9681A>C (p.Leu3227Phe) n.438A>C c.9834A>C (p.Leu3278Phe) c.8739A>C (p.Leu2913Phe) c.4923A>C (p.Leu1641Phe) c.4476A>C (p.Leu1492Phe) c.3813A>C (p.Leu1271Phe) c.8328A>C (p.Leu2776Phe) | |
| 5 | g.13769132A>C | CA359202493 | DNAH5 | c.9725T>G (p.Leu3242Ter) c.9680T>G (p.Leu3227Ter) n.437T>G c.9833T>G (p.Leu3278Ter) c.8738T>G (p.Leu2913Ter) c.4922T>G (p.Leu1641Ter) c.4475T>G (p.Leu1492Ter) c.3812T>G (p.Leu1271Ter) c.8327T>G (p.Leu2776Ter) | |
| 5 | g.13769132A>G | CA359202498 | DNAH5 | c.9725T>C (p.Leu3242Ser) c.9680T>C (p.Leu3227Ser) n.437T>C c.9833T>C (p.Leu3278Ser) c.8738T>C (p.Leu2913Ser) c.4922T>C (p.Leu1641Ser) c.4475T>C (p.Leu1492Ser) c.3812T>C (p.Leu1271Ser) c.8327T>C (p.Leu2776Ser) | |
| 5 | g.13769132A>T | CA359202496 | DNAH5 | c.9725T>A (p.Leu3242Ter) c.9680T>A (p.Leu3227Ter) n.437T>A c.9833T>A (p.Leu3278Ter) c.8738T>A (p.Leu2913Ter) c.4922T>A (p.Leu1641Ter) c.4475T>A (p.Leu1492Ter) c.3812T>A (p.Leu1271Ter) c.8327T>A (p.Leu2776Ter) | |
| 5 | g.13769133A>C | CA359202502 | DNAH5 | c.9724T>G (p.Leu3242Val) c.9679T>G (p.Leu3227Val) n.436T>G c.9832T>G (p.Leu3278Val) c.8737T>G (p.Leu2913Val) c.4921T>G (p.Leu1641Val) c.4474T>G (p.Leu1492Val) c.3811T>G (p.Leu1271Val) c.8326T>G (p.Leu2776Val) | |
| 5 | g.13769133A>G | CA443254169 | DNAH5 | c.9724T>C (p.Leu3242=) c.9679T>C (p.Leu3227=) n.436T>C c.9832T>C (p.Leu3278=) c.8737T>C (p.Leu2913=) c.4921T>C (p.Leu1641=) c.4474T>C (p.Leu1492=) c.3811T>C (p.Leu1271=) c.8326T>C (p.Leu2776=) | gnomAD v4 |
| 5 | g.13769133A>T | CA359202506 | DNAH5 | c.9724T>A (p.Leu3242Ile) c.9679T>A (p.Leu3227Ile) n.436T>A c.9832T>A (p.Leu3278Ile) c.8737T>A (p.Leu2913Ile) c.4921T>A (p.Leu1641Ile) c.4474T>A (p.Leu1492Ile) c.3811T>A (p.Leu1271Ile) c.8326T>A (p.Leu2776Ile) | |
| 5 | g.13769134G>A | CA443254172 | DNAH5 | c.9723C>T (p.Val3241=) c.9678C>T (p.Val3226=) n.435C>T c.9831C>T (p.Val3277=) c.8736C>T (p.Val2912=) c.4920C>T (p.Val1640=) c.4473C>T (p.Val1491=) c.3810C>T (p.Val1270=) c.8325C>T (p.Val2775=) | |
| 5 | g.13769134G>C | CA443254173 | DNAH5 | c.9723C>G (p.Val3241=) c.9678C>G (p.Val3226=) n.435C>G c.9831C>G (p.Val3277=) c.8736C>G (p.Val2912=) c.4920C>G (p.Val1640=) c.4473C>G (p.Val1491=) c.3810C>G (p.Val1270=) c.8325C>G (p.Val2775=) | |
| 5 | g.13769134G>T | CA443254174 | DNAH5 | c.9723C>A (p.Val3241=) c.9678C>A (p.Val3226=) n.435C>A c.9831C>A (p.Val3277=) c.8736C>A (p.Val2912=) c.4920C>A (p.Val1640=) c.4473C>A (p.Val1491=) c.3810C>A (p.Val1270=) c.8325C>A (p.Val2775=) | |
| 5 | g.13769135A= | CA1528430400 | DNAH5 | c.9722T= (p.Val3241=) c.9677T= (p.Val3226=) n.434T= c.9830T= (p.Val3277=) c.8735T= (p.Val2912=) c.4919T= (p.Val1640=) c.4472T= (p.Val1491=) c.3809T= (p.Val1270=) c.8324T= (p.Val2775=) | |
| 5 | g.13769135A>C | CA359202510 | DNAH5 | c.9722T>G (p.Val3241Gly) c.9677T>G (p.Val3226Gly) n.434T>G c.9830T>G (p.Val3277Gly) c.8735T>G (p.Val2912Gly) c.4919T>G (p.Val1640Gly) c.4472T>G (p.Val1491Gly) c.3809T>G (p.Val1270Gly) c.8324T>G (p.Val2775Gly) | |
| 5 | g.13769135A>G | CA359202524 | DNAH5 | c.9722T>C (p.Val3241Ala) c.9677T>C (p.Val3226Ala) n.434T>C c.9830T>C (p.Val3277Ala) c.8735T>C (p.Val2912Ala) c.4919T>C (p.Val1640Ala) c.4472T>C (p.Val1491Ala) c.3809T>C (p.Val1270Ala) c.8324T>C (p.Val2775Ala) | gnomAD v4 |
| 5 | g.13769135A>T | CA359202527 | DNAH5 | c.9722T>A (p.Val3241Asp) c.9677T>A (p.Val3226Asp) n.434T>A c.9830T>A (p.Val3277Asp) c.8735T>A (p.Val2912Asp) c.4919T>A (p.Val1640Asp) c.4472T>A (p.Val1491Asp) c.3809T>A (p.Val1270Asp) c.8324T>A (p.Val2775Asp) | |
| 5 | g.13769136C>A | CA359202530 | DNAH5 | c.9721G>T (p.Val3241Phe) c.9676G>T (p.Val3226Phe) n.433G>T c.9829G>T (p.Val3277Phe) c.8734G>T (p.Val2912Phe) c.4918G>T (p.Val1640Phe) c.4471G>T (p.Val1491Phe) c.3808G>T (p.Val1270Phe) c.8323G>T (p.Val2775Phe) | |
| 5 | g.13769136C>G | CA359202532 | DNAH5 | c.9721G>C (p.Val3241Leu) c.9676G>C (p.Val3226Leu) n.433G>C c.9829G>C (p.Val3277Leu) c.8734G>C (p.Val2912Leu) c.4918G>C (p.Val1640Leu) c.4471G>C (p.Val1491Leu) c.3808G>C (p.Val1270Leu) c.8323G>C (p.Val2775Leu) | COSMIC |
| 5 | g.13769136C>T | CA359202538 | DNAH5 | c.9721G>A (p.Val3241Ile) c.9676G>A (p.Val3226Ile) n.433G>A c.9829G>A (p.Val3277Ile) c.8734G>A (p.Val2912Ile) c.4918G>A (p.Val1640Ile) c.4471G>A (p.Val1491Ile) c.3808G>A (p.Val1270Ile) c.8323G>A (p.Val2775Ile) | |
| 5 | g.13769137dup | CA3202440 | DNAH5 | c.9721dup c.9676dup n.433dup c.9829dup c.8734dup c.4918dup c.4471dup c.3808dup c.8323dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769137C>A | CA359202541 | DNAH5 | c.9721-1G>T (n.9721-1G>T) c.9676-1G>T (n.9676-1G>T) n.433-1G>T c.9829-1G>T (n.9829-1G>T) c.8734-1G>T (n.8734-1G>T) c.4918-1G>T (n.4918-1G>T) c.4471-1G>T (n.4471-1G>T) c.3808-1G>T (n.3808-1G>T) c.8323-1G>T (n.8323-1G>T) | |
| 5 | g.13769137C>G | CA359202543 | DNAH5 | c.9721-1G>C (n.9721-1G>C) c.9676-1G>C (n.9676-1G>C) n.433-1G>C c.9829-1G>C (n.9829-1G>C) c.8734-1G>C (n.8734-1G>C) c.4918-1G>C (n.4918-1G>C) c.4471-1G>C (n.4471-1G>C) c.3808-1G>C (n.3808-1G>C) c.8323-1G>C (n.8323-1G>C) | ClinVar |
| 5 | g.13769137C>T | CA359202547 | DNAH5 | c.9721-1G>A (n.9721-1G>A) c.9676-1G>A (n.9676-1G>A) n.433-1G>A c.9829-1G>A (n.9829-1G>A) c.8734-1G>A (n.8734-1G>A) c.4918-1G>A (n.4918-1G>A) c.4471-1G>A (n.4471-1G>A) c.3808-1G>A (n.3808-1G>A) c.8323-1G>A (n.8323-1G>A) | COSMIC |
| 5 | g.13769138T>A | CA359202551 | DNAH5 | c.9721-2A>T (n.9721-2A>T) c.9676-2A>T (n.9676-2A>T) n.433-2A>T c.9829-2A>T (n.9829-2A>T) c.8734-2A>T (n.8734-2A>T) c.4918-2A>T (n.4918-2A>T) c.4471-2A>T (n.4471-2A>T) c.3808-2A>T (n.3808-2A>T) c.8323-2A>T (n.8323-2A>T) | |
| 5 | g.13769138T>C | CA359202552 | DNAH5 | c.9721-2A>G (n.9721-2A>G) c.9676-2A>G (n.9676-2A>G) n.433-2A>G c.9829-2A>G (n.9829-2A>G) c.8734-2A>G (n.8734-2A>G) c.4918-2A>G (n.4918-2A>G) c.4471-2A>G (n.4471-2A>G) c.3808-2A>G (n.3808-2A>G) c.8323-2A>G (n.8323-2A>G) | |
| 5 | g.13769138T>G | CA359202553 | DNAH5 | c.9721-2A>C (n.9721-2A>C) c.9676-2A>C (n.9676-2A>C) n.433-2A>C c.9829-2A>C (n.9829-2A>C) c.8734-2A>C (n.8734-2A>C) c.4918-2A>C (n.4918-2A>C) c.4471-2A>C (n.4471-2A>C) c.3808-2A>C (n.3808-2A>C) c.8323-2A>C (n.8323-2A>C) | |
| 5 | g.13769140_13769141del | CA2499217606 | DNAH5 | c.9721-5_9721-4del (n.9721-5_9721-4del) c.9676-5_9676-4del (n.9676-5_9676-4del) n.433-5_433-4del c.9829-5_9829-4del (n.9829-5_9829-4del) c.8734-5_8734-4del (n.8734-5_8734-4del) c.4918-5_4918-4del (n.4918-5_4918-4del) c.4471-5_4471-4del (n.4471-5_4471-4del) c.3808-5_3808-4del (n.3808-5_3808-4del) c.8323-5_8323-4del (n.8323-5_8323-4del) | ClinVar dbSNP |
| 5 | g.13769141T>C | CA1528430402 | DNAH5 | c.9721-5A>G (n.9721-5A>G) c.9676-5A>G (n.9676-5A>G) n.433-5A>G c.9829-5A>G (n.9829-5A>G) c.8734-5A>G (n.8734-5A>G) c.4918-5A>G (n.4918-5A>G) c.4471-5A>G (n.4471-5A>G) c.3808-5A>G (n.3808-5A>G) c.8323-5A>G (n.8323-5A>G) | dbSNP |
| 5 | g.13769141T= | CA1528430401 | DNAH5 | c.9721-5A= (n.9721-5A=) c.9676-5A= (n.9676-5A=) n.433-5A= c.9829-5A= (n.9829-5A=) c.8734-5A= (n.8734-5A=) c.4918-5A= (n.4918-5A=) c.4471-5A= (n.4471-5A=) c.3808-5A= (n.3808-5A=) c.8323-5A= (n.8323-5A=) | |
| 5 | g.13769142T>A | CA2673269721 | DNAH5 | c.9721-6A>T (n.9721-6A>T) c.9676-6A>T (n.9676-6A>T) n.433-6A>T c.9829-6A>T (n.9829-6A>T) c.8734-6A>T (n.8734-6A>T) c.4918-6A>T (n.4918-6A>T) c.4471-6A>T (n.4471-6A>T) c.3808-6A>T (n.3808-6A>T) c.8323-6A>T (n.8323-6A>T) | gnomAD v4 |
| 5 | g.13769142T>G | CA2499217607 | DNAH5 | c.9721-6A>C (n.9721-6A>C) c.9676-6A>C (n.9676-6A>C) n.433-6A>C c.9829-6A>C (n.9829-6A>C) c.8734-6A>C (n.8734-6A>C) c.4918-6A>C (n.4918-6A>C) c.4471-6A>C (n.4471-6A>C) c.3808-6A>C (n.3808-6A>C) c.8323-6A>C (n.8323-6A>C) | ClinVar dbSNP |
| 5 | g.13769143C>A | CA2673269722 | DNAH5 | c.9721-7G>T (n.9721-7G>T) c.9676-7G>T (n.9676-7G>T) n.433-7G>T c.9829-7G>T (n.9829-7G>T) c.8734-7G>T (n.8734-7G>T) c.4918-7G>T (n.4918-7G>T) c.4471-7G>T (n.4471-7G>T) c.3808-7G>T (n.3808-7G>T) c.8323-7G>T (n.8323-7G>T) | gnomAD v4 |
| 5 | g.13769143C= | CA1528430404 | DNAH5 | c.9721-7G= (n.9721-7G=) c.9676-7G= (n.9676-7G=) n.433-7G= c.9829-7G= (n.9829-7G=) c.8734-7G= (n.8734-7G=) c.4918-7G= (n.4918-7G=) c.4471-7G= (n.4471-7G=) c.3808-7G= (n.3808-7G=) c.8323-7G= (n.8323-7G=) | |
| 5 | g.13769143C>G | CA3202442 | DNAH5 | c.9721-7G>C (n.9721-7G>C) c.9676-7G>C (n.9676-7G>C) n.433-7G>C c.9829-7G>C (n.9829-7G>C) c.8734-7G>C (n.8734-7G>C) c.4918-7G>C (n.4918-7G>C) c.4471-7G>C (n.4471-7G>C) c.3808-7G>C (n.3808-7G>C) c.8323-7G>C (n.8323-7G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769143C>T | CA645540991 | DNAH5 | c.9721-7G>A (n.9721-7G>A) c.9676-7G>A (n.9676-7G>A) n.433-7G>A c.9829-7G>A (n.9829-7G>A) c.8734-7G>A (n.8734-7G>A) c.4918-7G>A (n.4918-7G>A) c.4471-7G>A (n.4471-7G>A) c.3808-7G>A (n.3808-7G>A) c.8323-7G>A (n.8323-7G>A) | COSMIC |
| 5 | g.13769143_13769144delinsCA | CA1528430403 | DNAH5 | c.9721-8_9721-7delinsTG (n.9721-8_9721-7delinsTG) c.9676-8_9676-7delinsTG (n.9676-8_9676-7delinsTG) n.433-8_433-7delinsTG c.9829-8_9829-7delinsTG (n.9829-8_9829-7delinsTG) c.8734-8_8734-7delinsTG (n.8734-8_8734-7delinsTG) c.4918-8_4918-7delinsTG (n.4918-8_4918-7delinsTG) c.4471-8_4471-7delinsTG (n.4471-8_4471-7delinsTG) c.3808-8_3808-7delinsTG (n.3808-8_3808-7delinsTG) c.8323-8_8323-7delinsTG (n.8323-8_8323-7delinsTG) | |
| 5 | g.13769145del | CA3202441 | DNAH5 | c.9721-8del (n.9721-8del) c.9676-8del (n.9676-8del) n.433-8del c.9829-8del (n.9829-8del) c.8734-8del (n.8734-8del) c.4918-8del (n.4918-8del) c.4471-8del (n.4471-8del) c.3808-8del (n.3808-8del) c.8323-8del (n.8323-8del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769149_13769202dup | CA2673269723 | DNAH5 | c.9721-64_9721-11dup (n.9721-64_9721-11dup) c.9676-64_9676-11dup (n.9676-64_9676-11dup) n.433-64_433-11dup c.9829-64_9829-11dup (n.9829-64_9829-11dup) c.8734-64_8734-11dup (n.8734-64_8734-11dup) c.4918-64_4918-11dup (n.4918-64_4918-11dup) c.4471-64_4471-11dup (n.4471-64_4471-11dup) c.3808-64_3808-11dup (n.3808-64_3808-11dup) c.8323-64_8323-11dup (n.8323-64_8323-11dup) | gnomAD v4 |
| 5 | g.13769148T>A | CA179979 | DNAH5 | c.9721-12A>T (n.9721-12A>T) c.9676-12A>T (n.9676-12A>T) n.433-12A>T c.9829-12A>T (n.9829-12A>T) c.8734-12A>T (n.8734-12A>T) c.4918-12A>T (n.4918-12A>T) c.4471-12A>T (n.4471-12A>T) c.3808-12A>T (n.3808-12A>T) c.8323-12A>T (n.8323-12A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769148T>C | CA10586901 | DNAH5 | c.9721-12A>G (n.9721-12A>G) c.9676-12A>G (n.9676-12A>G) n.433-12A>G c.9829-12A>G (n.9829-12A>G) c.8734-12A>G (n.8734-12A>G) c.4918-12A>G (n.4918-12A>G) c.4471-12A>G (n.4471-12A>G) c.3808-12A>G (n.3808-12A>G) c.8323-12A>G (n.8323-12A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13769148T>G | CA2581471113 | DNAH5 | c.9721-12A>C (n.9721-12A>C) c.9676-12A>C (n.9676-12A>C) n.433-12A>C c.9829-12A>C (n.9829-12A>C) c.8734-12A>C (n.8734-12A>C) c.4918-12A>C (n.4918-12A>C) c.4471-12A>C (n.4471-12A>C) c.3808-12A>C (n.3808-12A>C) c.8323-12A>C (n.8323-12A>C) | |
| 5 | g.13769148T= | CA1528430405 | DNAH5 | c.9721-12A= (n.9721-12A=) c.9676-12A= (n.9676-12A=) n.433-12A= c.9829-12A= (n.9829-12A=) c.8734-12A= (n.8734-12A=) c.4918-12A= (n.4918-12A=) c.4471-12A= (n.4471-12A=) c.3808-12A= (n.3808-12A=) c.8323-12A= (n.8323-12A=) | |
| 5 | g.13769149A= | CA1528430406 | DNAH5 | c.9721-13T= (n.9721-13T=) c.9676-13T= (n.9676-13T=) n.433-13T= c.9829-13T= (n.9829-13T=) c.8734-13T= (n.8734-13T=) c.4918-13T= (n.4918-13T=) c.4471-13T= (n.4471-13T=) c.3808-13T= (n.3808-13T=) c.8323-13T= (n.8323-13T=) | |
| 5 | g.13769149A>G | CA3202443 | DNAH5 | c.9721-13T>C (n.9721-13T>C) c.9676-13T>C (n.9676-13T>C) n.433-13T>C c.9829-13T>C (n.9829-13T>C) c.8734-13T>C (n.8734-13T>C) c.4918-13T>C (n.4918-13T>C) c.4471-13T>C (n.4471-13T>C) c.3808-13T>C (n.3808-13T>C) c.8323-13T>C (n.8323-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13769149A>T | CA1073407790 | DNAH5 | c.9721-13T>A (n.9721-13T>A) c.9676-13T>A (n.9676-13T>A) n.433-13T>A c.9829-13T>A (n.9829-13T>A) c.8734-13T>A (n.8734-13T>A) c.4918-13T>A (n.4918-13T>A) c.4471-13T>A (n.4471-13T>A) c.3808-13T>A (n.3808-13T>A) c.8323-13T>A (n.8323-13T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13769151del | CA2673269724 | DNAH5 | c.9721-13del (n.9721-13del) c.9676-13del (n.9676-13del) n.433-13del c.9829-13del (n.9829-13del) c.8734-13del (n.8734-13del) c.4918-13del (n.4918-13del) c.4471-13del (n.4471-13del) c.3808-13del (n.3808-13del) c.8323-13del (n.8323-13del) | gnomAD v4 |
| 5 | g.13769150A>G | CA2697547058 | DNAH5 | c.9721-14T>C (n.9721-14T>C) c.9676-14T>C (n.9676-14T>C) n.433-14T>C c.9829-14T>C (n.9829-14T>C) c.8734-14T>C (n.8734-14T>C) c.4918-14T>C (n.4918-14T>C) c.4471-14T>C (n.4471-14T>C) c.3808-14T>C (n.3808-14T>C) c.8323-14T>C (n.8323-14T>C) | ClinVar |
| 5 | g.13769152G>A | CA2673269726 | DNAH5 | c.9721-16C>T (n.9721-16C>T) c.9676-16C>T (n.9676-16C>T) n.433-16C>T c.9829-16C>T (n.9829-16C>T) c.8734-16C>T (n.8734-16C>T) c.4918-16C>T (n.4918-16C>T) c.4471-16C>T (n.4471-16C>T) c.3808-16C>T (n.3808-16C>T) c.8323-16C>T (n.8323-16C>T) | gnomAD v4 |
| 5 | g.13769152G>T | CA2673269725 | DNAH5 | c.9721-16C>A (n.9721-16C>A) c.9676-16C>A (n.9676-16C>A) n.433-16C>A c.9829-16C>A (n.9829-16C>A) c.8734-16C>A (n.8734-16C>A) c.4918-16C>A (n.4918-16C>A) c.4471-16C>A (n.4471-16C>A) c.3808-16C>A (n.3808-16C>A) c.8323-16C>A (n.8323-16C>A) | gnomAD v4 |
| 5 | g.13769153C= | CA1528430407 | DNAH5 | c.9721-17G= (n.9721-17G=) c.9676-17G= (n.9676-17G=) n.433-17G= c.9829-17G= (n.9829-17G=) c.8734-17G= (n.8734-17G=) c.4918-17G= (n.4918-17G=) c.4471-17G= (n.4471-17G=) c.3808-17G= (n.3808-17G=) c.8323-17G= (n.8323-17G=) | |
| 5 | g.13769153C>G | CA557870033 | DNAH5 | c.9721-17G>C (n.9721-17G>C) c.9676-17G>C (n.9676-17G>C) n.433-17G>C c.9829-17G>C (n.9829-17G>C) c.8734-17G>C (n.8734-17G>C) c.4918-17G>C (n.4918-17G>C) c.4471-17G>C (n.4471-17G>C) c.3808-17G>C (n.3808-17G>C) c.8323-17G>C (n.8323-17G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13769154A= | CA1528430408 | DNAH5 | c.9721-18T= (n.9721-18T=) c.9676-18T= (n.9676-18T=) n.433-18T= c.9829-18T= (n.9829-18T=) c.8734-18T= (n.8734-18T=) c.4918-18T= (n.4918-18T=) c.4471-18T= (n.4471-18T=) c.3808-18T= (n.3808-18T=) c.8323-18T= (n.8323-18T=) | |
| 5 | g.13769154A>G | CA557870034 | DNAH5 | c.9721-18T>C (n.9721-18T>C) c.9676-18T>C (n.9676-18T>C) n.433-18T>C c.9829-18T>C (n.9829-18T>C) c.8734-18T>C (n.8734-18T>C) c.4918-18T>C (n.4918-18T>C) c.4471-18T>C (n.4471-18T>C) c.3808-18T>C (n.3808-18T>C) c.8323-18T>C (n.8323-18T>C) | ClinVar dbSNP gnomAD v2 |
| 5 | g.13769157C>A | CA557870035 | DNAH5 | c.9721-21G>T (n.9721-21G>T) c.9676-21G>T (n.9676-21G>T) n.433-21G>T c.9829-21G>T (n.9829-21G>T) c.8734-21G>T (n.8734-21G>T) c.4918-21G>T (n.4918-21G>T) c.4471-21G>T (n.4471-21G>T) c.3808-21G>T (n.3808-21G>T) c.8323-21G>T (n.8323-21G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13769157C= | CA1528430409 | DNAH5 | c.9721-21G= (n.9721-21G=) c.9676-21G= (n.9676-21G=) n.433-21G= c.9829-21G= (n.9829-21G=) c.8734-21G= (n.8734-21G=) c.4918-21G= (n.4918-21G=) c.4471-21G= (n.4471-21G=) c.3808-21G= (n.3808-21G=) c.8323-21G= (n.8323-21G=) | |
| 5 | g.13769157C>G | CA443254759 | DNAH5 | c.9721-21G>C (n.9721-21G>C) c.9676-21G>C (n.9676-21G>C) n.433-21G>C c.9829-21G>C (n.9829-21G>C) c.8734-21G>C (n.8734-21G>C) c.4918-21G>C (n.4918-21G>C) c.4471-21G>C (n.4471-21G>C) c.3808-21G>C (n.3808-21G>C) c.8323-21G>C (n.8323-21G>C) | |
| 5 | g.13769158A>T | CA2673269727 | DNAH5 | c.9721-22T>A (n.9721-22T>A) c.9676-22T>A (n.9676-22T>A) n.433-22T>A c.9829-22T>A (n.9829-22T>A) c.8734-22T>A (n.8734-22T>A) c.4918-22T>A (n.4918-22T>A) c.4471-22T>A (n.4471-22T>A) c.3808-22T>A (n.3808-22T>A) c.8323-22T>A (n.8323-22T>A) | gnomAD v4 |
| 5 | g.13769159A>G | CA2673269728 | DNAH5 | c.9721-23T>C (n.9721-23T>C) c.9676-23T>C (n.9676-23T>C) n.433-23T>C c.9829-23T>C (n.9829-23T>C) c.8734-23T>C (n.8734-23T>C) c.4918-23T>C (n.4918-23T>C) c.4471-23T>C (n.4471-23T>C) c.3808-23T>C (n.3808-23T>C) c.8323-23T>C (n.8323-23T>C) | gnomAD v4 |
| 5 | g.13769159A>T | CA2765348320 | DNAH5 | c.9721-23T>A (n.9721-23T>A) c.9676-23T>A (n.9676-23T>A) n.433-23T>A c.9829-23T>A (n.9829-23T>A) c.8734-23T>A (n.8734-23T>A) c.4918-23T>A (n.4918-23T>A) c.4471-23T>A (n.4471-23T>A) c.3808-23T>A (n.3808-23T>A) c.8323-23T>A (n.8323-23T>A) |