| 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.13769048A= | CA1528430366 | DNAH5 | c.9809T= (p.Val3270=) c.9764T= (p.Val3255=) n.521T= c.9917T= (p.Val3306=) c.8822T= (p.Val2941=) c.5006T= (p.Val1669=) c.4559T= (p.Val1520=) c.3896T= (p.Val1299=) c.8411T= (p.Val2804=) | |
| 5 | g.13769048A>C | CA359201915 | DNAH5 | c.9809T>G (p.Val3270Gly) c.9764T>G (p.Val3255Gly) n.521T>G c.9917T>G (p.Val3306Gly) c.8822T>G (p.Val2941Gly) c.5006T>G (p.Val1669Gly) c.4559T>G (p.Val1520Gly) c.3896T>G (p.Val1299Gly) c.8411T>G (p.Val2804Gly) | |
| 5 | g.13769048A>G | CA113930819 | DNAH5 | c.9809T>C (p.Val3270Ala) c.9764T>C (p.Val3255Ala) n.521T>C c.9917T>C (p.Val3306Ala) c.8822T>C (p.Val2941Ala) c.5006T>C (p.Val1669Ala) c.4559T>C (p.Val1520Ala) c.3896T>C (p.Val1299Ala) c.8411T>C (p.Val2804Ala) | dbSNP gnomAD v4 |
| 5 | g.13769048A>T | CA359201920 | DNAH5 | c.9809T>A (p.Val3270Glu) c.9764T>A (p.Val3255Glu) n.521T>A c.9917T>A (p.Val3306Glu) c.8822T>A (p.Val2941Glu) c.5006T>A (p.Val1669Glu) c.4559T>A (p.Val1520Glu) c.3896T>A (p.Val1299Glu) c.8411T>A (p.Val2804Glu) | |
| 5 | g.13769049C>A | CA359201922 | DNAH5 | c.9808G>T (p.Val3270Leu) c.9763G>T (p.Val3255Leu) n.520G>T c.9916G>T (p.Val3306Leu) c.8821G>T (p.Val2941Leu) c.5005G>T (p.Val1669Leu) c.4558G>T (p.Val1520Leu) c.3895G>T (p.Val1299Leu) c.8410G>T (p.Val2804Leu) | |
| 5 | g.13769049C>G | CA359201924 | DNAH5 | c.9808G>C (p.Val3270Leu) c.9763G>C (p.Val3255Leu) n.520G>C c.9916G>C (p.Val3306Leu) c.8821G>C (p.Val2941Leu) c.5005G>C (p.Val1669Leu) c.4558G>C (p.Val1520Leu) c.3895G>C (p.Val1299Leu) c.8410G>C (p.Val2804Leu) | |
| 5 | g.13769049C>T | CA359201925 | DNAH5 | c.9808G>A (p.Val3270Met) c.9763G>A (p.Val3255Met) n.520G>A c.9916G>A (p.Val3306Met) c.8821G>A (p.Val2941Met) c.5005G>A (p.Val1669Met) c.4558G>A (p.Val1520Met) c.3895G>A (p.Val1299Met) c.8410G>A (p.Val2804Met) | gnomAD v4 |
| 5 | g.13769050A>C | CA359201927 | DNAH5 | c.9807T>G (p.Ile3269Met) c.9762T>G (p.Ile3254Met) n.519T>G c.9915T>G (p.Ile3305Met) c.8820T>G (p.Ile2940Met) c.5004T>G (p.Ile1668Met) c.4557T>G (p.Ile1519Met) c.3894T>G (p.Ile1298Met) c.8409T>G (p.Ile2803Met) | |
| 5 | g.13769050A>G | CA443253834 | DNAH5 | c.9807T>C (p.Ile3269=) c.9762T>C (p.Ile3254=) n.519T>C c.9915T>C (p.Ile3305=) c.8820T>C (p.Ile2940=) c.5004T>C (p.Ile1668=) c.4557T>C (p.Ile1519=) c.3894T>C (p.Ile1298=) c.8409T>C (p.Ile2803=) | |
| 5 | g.13769050A>T | CA443253833 | DNAH5 | c.9807T>A (p.Ile3269=) c.9762T>A (p.Ile3254=) n.519T>A c.9915T>A (p.Ile3305=) c.8820T>A (p.Ile2940=) c.5004T>A (p.Ile1668=) c.4557T>A (p.Ile1519=) c.3894T>A (p.Ile1298=) c.8409T>A (p.Ile2803=) | |
| 5 | g.13769051A>C | CA359201928 | DNAH5 | c.9806T>G (p.Ile3269Ser) c.9761T>G (p.Ile3254Ser) n.518T>G c.9914T>G (p.Ile3305Ser) c.8819T>G (p.Ile2940Ser) c.5003T>G (p.Ile1668Ser) c.4556T>G (p.Ile1519Ser) c.3893T>G (p.Ile1298Ser) c.8408T>G (p.Ile2803Ser) | |
| 5 | g.13769051A>G | CA359201929 | DNAH5 | c.9806T>C (p.Ile3269Thr) c.9761T>C (p.Ile3254Thr) n.518T>C c.9914T>C (p.Ile3305Thr) c.8819T>C (p.Ile2940Thr) c.5003T>C (p.Ile1668Thr) c.4556T>C (p.Ile1519Thr) c.3893T>C (p.Ile1298Thr) c.8408T>C (p.Ile2803Thr) | |
| 5 | g.13769051A>T | CA359201931 | DNAH5 | c.9806T>A (p.Ile3269Asn) c.9761T>A (p.Ile3254Asn) n.518T>A c.9914T>A (p.Ile3305Asn) c.8819T>A (p.Ile2940Asn) c.5003T>A (p.Ile1668Asn) c.4556T>A (p.Ile1519Asn) c.3893T>A (p.Ile1298Asn) c.8408T>A (p.Ile2803Asn) | |
| 5 | g.13769052del | CA2580072195 | DNAH5 | c.9805del (p.Ile3269LeufsTer23) c.9760del (p.Ile3254LeufsTer23) n.517del c.9913del (p.Ile3305LeufsTer23) c.8818del (p.Ile2940LeufsTer23) c.5002del (p.Ile1668LeufsTer23) c.4555del (p.Ile1519LeufsTer23) c.3892del (p.Ile1298LeufsTer23) c.8407del (p.Ile2803LeufsTer23) | ClinVar gnomAD v4 |
| 5 | g.13769052T>A | CA359201935 | DNAH5 | c.9805A>T (p.Ile3269Phe) c.9760A>T (p.Ile3254Phe) n.517A>T c.9913A>T (p.Ile3305Phe) c.8818A>T (p.Ile2940Phe) c.5002A>T (p.Ile1668Phe) c.4555A>T (p.Ile1519Phe) c.3892A>T (p.Ile1298Phe) c.8407A>T (p.Ile2803Phe) | |
| 5 | g.13769052T>C | CA359201936 | DNAH5 | c.9805A>G (p.Ile3269Val) c.9760A>G (p.Ile3254Val) n.517A>G c.9913A>G (p.Ile3305Val) c.8818A>G (p.Ile2940Val) c.5002A>G (p.Ile1668Val) c.4555A>G (p.Ile1519Val) c.3892A>G (p.Ile1298Val) c.8407A>G (p.Ile2803Val) | |
| 5 | g.13769052T>G | CA359201938 | DNAH5 | c.9805A>C (p.Ile3269Leu) c.9760A>C (p.Ile3254Leu) n.517A>C c.9913A>C (p.Ile3305Leu) c.8818A>C (p.Ile2940Leu) c.5002A>C (p.Ile1668Leu) c.4555A>C (p.Ile1519Leu) c.3892A>C (p.Ile1298Leu) c.8407A>C (p.Ile2803Leu) | |
| 5 | g.13769053G>A | CA443253837 | DNAH5 | c.9804C>T (p.Ala3268=) c.9759C>T (p.Ala3253=) n.516C>T c.9912C>T (p.Ala3304=) c.8817C>T (p.Ala2939=) c.5001C>T (p.Ala1667=) c.4554C>T (p.Ala1518=) c.3891C>T (p.Ala1297=) c.8406C>T (p.Ala2802=) | |
| 5 | g.13769053G>C | CA443253836 | DNAH5 | c.9804C>G (p.Ala3268=) c.9759C>G (p.Ala3253=) n.516C>G c.9912C>G (p.Ala3304=) c.8817C>G (p.Ala2939=) c.5001C>G (p.Ala1667=) c.4554C>G (p.Ala1518=) c.3891C>G (p.Ala1297=) c.8406C>G (p.Ala2802=) | |
| 5 | g.13769053G>T | CA443253835 | DNAH5 | c.9804C>A (p.Ala3268=) c.9759C>A (p.Ala3253=) n.516C>A c.9912C>A (p.Ala3304=) c.8817C>A (p.Ala2939=) c.5001C>A (p.Ala1667=) c.4554C>A (p.Ala1518=) c.3891C>A (p.Ala1297=) c.8406C>A (p.Ala2802=) | |
| 5 | g.13769054G>A | CA359201940 | DNAH5 | c.9803C>T (p.Ala3268Val) c.9758C>T (p.Ala3253Val) n.515C>T c.9911C>T (p.Ala3304Val) c.8816C>T (p.Ala2939Val) c.5000C>T (p.Ala1667Val) c.4553C>T (p.Ala1518Val) c.3890C>T (p.Ala1297Val) c.8405C>T (p.Ala2802Val) | |
| 5 | g.13769054G>C | CA359201942 | DNAH5 | c.9803C>G (p.Ala3268Gly) c.9758C>G (p.Ala3253Gly) n.515C>G c.9911C>G (p.Ala3304Gly) c.8816C>G (p.Ala2939Gly) c.5000C>G (p.Ala1667Gly) c.4553C>G (p.Ala1518Gly) c.3890C>G (p.Ala1297Gly) c.8405C>G (p.Ala2802Gly) | |
| 5 | g.13769054G= | CA1528430367 | DNAH5 | c.9803C= (p.Ala3268=) c.9758C= (p.Ala3253=) n.515C= c.9911C= (p.Ala3304=) c.8816C= (p.Ala2939=) c.5000C= (p.Ala1667=) c.4553C= (p.Ala1518=) c.3890C= (p.Ala1297=) c.8405C= (p.Ala2802=) | |
| 5 | g.13769054G>T | CA3202424 | DNAH5 | c.9803C>A (p.Ala3268Asp) c.9758C>A (p.Ala3253Asp) n.515C>A c.9911C>A (p.Ala3304Asp) c.8816C>A (p.Ala2939Asp) c.5000C>A (p.Ala1667Asp) c.4553C>A (p.Ala1518Asp) c.3890C>A (p.Ala1297Asp) c.8405C>A (p.Ala2802Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13769055C>A | CA359201945 | DNAH5 | c.9802G>T (p.Ala3268Ser) c.9757G>T (p.Ala3253Ser) n.514G>T c.9910G>T (p.Ala3304Ser) c.8815G>T (p.Ala2939Ser) c.4999G>T (p.Ala1667Ser) c.4552G>T (p.Ala1518Ser) c.3889G>T (p.Ala1297Ser) c.8404G>T (p.Ala2802Ser) | |
| 5 | g.13769055C= | CA1528430368 | DNAH5 | c.9802G= (p.Ala3268=) c.9757G= (p.Ala3253=) n.514G= c.9910G= (p.Ala3304=) c.8815G= (p.Ala2939=) c.4999G= (p.Ala1667=) c.4552G= (p.Ala1518=) c.3889G= (p.Ala1297=) c.8404G= (p.Ala2802=) | |
| 5 | g.13769055C>G | CA359201949 | DNAH5 | c.9802G>C (p.Ala3268Pro) c.9757G>C (p.Ala3253Pro) n.514G>C c.9910G>C (p.Ala3304Pro) c.8815G>C (p.Ala2939Pro) c.4999G>C (p.Ala1667Pro) c.4552G>C (p.Ala1518Pro) c.3889G>C (p.Ala1297Pro) c.8404G>C (p.Ala2802Pro) | |
| 5 | g.13769055C>T | CA359201946 | DNAH5 | c.9802G>A (p.Ala3268Thr) c.9757G>A (p.Ala3253Thr) n.514G>A c.9910G>A (p.Ala3304Thr) c.8815G>A (p.Ala2939Thr) c.4999G>A (p.Ala1667Thr) c.4552G>A (p.Ala1518Thr) c.3889G>A (p.Ala1297Thr) c.8404G>A (p.Ala2802Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13769056C>A | CA359201951 | DNAH5 | c.9801G>T (p.Gln3267His) c.9756G>T (p.Gln3252His) n.513G>T c.9909G>T (p.Gln3303His) c.8814G>T (p.Gln2938His) c.4998G>T (p.Gln1666His) c.4551G>T (p.Gln1517His) c.3888G>T (p.Gln1296His) c.8403G>T (p.Gln2801His) | |
| 5 | g.13769056C>G | CA359201952 | DNAH5 | c.9801G>C (p.Gln3267His) c.9756G>C (p.Gln3252His) n.513G>C c.9909G>C (p.Gln3303His) c.8814G>C (p.Gln2938His) c.4998G>C (p.Gln1666His) c.4551G>C (p.Gln1517His) c.3888G>C (p.Gln1296His) c.8403G>C (p.Gln2801His) | |
| 5 | g.13769056C>T | CA443253843 | DNAH5 | c.9801G>A (p.Gln3267=) c.9756G>A (p.Gln3252=) n.513G>A c.9909G>A (p.Gln3303=) c.8814G>A (p.Gln2938=) c.4998G>A (p.Gln1666=) c.4551G>A (p.Gln1517=) c.3888G>A (p.Gln1296=) c.8403G>A (p.Gln2801=) | |
| 5 | g.13769057T>A | CA359201954 | DNAH5 | c.9800A>T (p.Gln3267Leu) c.9755A>T (p.Gln3252Leu) n.512A>T c.9908A>T (p.Gln3303Leu) c.8813A>T (p.Gln2938Leu) c.4997A>T (p.Gln1666Leu) c.4550A>T (p.Gln1517Leu) c.3887A>T (p.Gln1296Leu) c.8402A>T (p.Gln2801Leu) | |
| 5 | g.13769057T>C | CA359201955 | DNAH5 | c.9800A>G (p.Gln3267Arg) c.9755A>G (p.Gln3252Arg) n.512A>G c.9908A>G (p.Gln3303Arg) c.8813A>G (p.Gln2938Arg) c.4997A>G (p.Gln1666Arg) c.4550A>G (p.Gln1517Arg) c.3887A>G (p.Gln1296Arg) c.8402A>G (p.Gln2801Arg) | |
| 5 | g.13769057T>G | CA359201958 | DNAH5 | c.9800A>C (p.Gln3267Pro) c.9755A>C (p.Gln3252Pro) n.512A>C c.9908A>C (p.Gln3303Pro) c.8813A>C (p.Gln2938Pro) c.4997A>C (p.Gln1666Pro) c.4550A>C (p.Gln1517Pro) c.3887A>C (p.Gln1296Pro) c.8402A>C (p.Gln2801Pro) | |
| 5 | g.13769058G>A | CA359201959 | DNAH5 | c.9799C>T (p.Gln3267Ter) c.9754C>T (p.Gln3252Ter) n.511C>T c.9907C>T (p.Gln3303Ter) c.8812C>T (p.Gln2938Ter) c.4996C>T (p.Gln1666Ter) c.4549C>T (p.Gln1517Ter) c.3886C>T (p.Gln1296Ter) c.8401C>T (p.Gln2801Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13769058G>C | CA359201960 | DNAH5 | c.9799C>G (p.Gln3267Glu) c.9754C>G (p.Gln3252Glu) n.511C>G c.9907C>G (p.Gln3303Glu) c.8812C>G (p.Gln2938Glu) c.4996C>G (p.Gln1666Glu) c.4549C>G (p.Gln1517Glu) c.3886C>G (p.Gln1296Glu) c.8401C>G (p.Gln2801Glu) | |
| 5 | g.13769058G= | CA1528430369 | DNAH5 | c.9799C= (p.Gln3267=) c.9754C= (p.Gln3252=) n.511C= c.9907C= (p.Gln3303=) c.8812C= (p.Gln2938=) c.4996C= (p.Gln1666=) c.4549C= (p.Gln1517=) c.3886C= (p.Gln1296=) c.8401C= (p.Gln2801=) | |
| 5 | g.13769058G>T | CA113930854 | DNAH5 | c.9799C>A (p.Gln3267Lys) c.9754C>A (p.Gln3252Lys) n.511C>A c.9907C>A (p.Gln3303Lys) c.8812C>A (p.Gln2938Lys) c.4996C>A (p.Gln1666Lys) c.4549C>A (p.Gln1517Lys) c.3886C>A (p.Gln1296Lys) c.8401C>A (p.Gln2801Lys) | dbSNP |
| 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) |