WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13770764C>A | CA359204140 | DNAH5 | c.9590G>T (p.Arg3197Leu) c.9545G>T (p.Arg3182Leu) n.302G>T c.9698G>T (p.Arg3233Leu) c.8603G>T (p.Arg2868Leu) c.4787G>T (p.Arg1596Leu) c.4340G>T (p.Arg1447Leu) c.3677G>T (p.Arg1226Leu) c.8192G>T (p.Arg2731Leu) | |
| 5 | g.13770764C= | CA1528431173 | DNAH5 | c.9590G= (p.Arg3197=) c.9545G= (p.Arg3182=) n.302G= c.9698G= (p.Arg3233=) c.8603G= (p.Arg2868=) c.4787G= (p.Arg1596=) c.4340G= (p.Arg1447=) c.3677G= (p.Arg1226=) c.8192G= (p.Arg2731=) | |
| 5 | g.13770764C>G | CA359204141 | DNAH5 | c.9590G>C (p.Arg3197Pro) c.9545G>C (p.Arg3182Pro) n.302G>C c.9698G>C (p.Arg3233Pro) c.8603G>C (p.Arg2868Pro) c.4787G>C (p.Arg1596Pro) c.4340G>C (p.Arg1447Pro) c.3677G>C (p.Arg1226Pro) c.8192G>C (p.Arg2731Pro) | |
| 5 | g.13770764C>T | CA3202507 | DNAH5 | c.9590G>A (p.Arg3197Gln) c.9545G>A (p.Arg3182Gln) n.302G>A c.9698G>A (p.Arg3233Gln) c.8603G>A (p.Arg2868Gln) c.4787G>A (p.Arg1596Gln) c.4340G>A (p.Arg1447Gln) c.3677G>A (p.Arg1226Gln) c.8192G>A (p.Arg2731Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13770765G>A | CA3202508 | DNAH5 | c.9589C>T (p.Arg3197Trp) c.9544C>T (p.Arg3182Trp) n.301C>T c.9697C>T (p.Arg3233Trp) c.8602C>T (p.Arg2868Trp) c.4786C>T (p.Arg1596Trp) c.4339C>T (p.Arg1447Trp) c.3676C>T (p.Arg1226Trp) c.8191C>T (p.Arg2731Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13770765G>C | CA359204143 | DNAH5 | c.9589C>G (p.Arg3197Gly) c.9544C>G (p.Arg3182Gly) n.301C>G c.9697C>G (p.Arg3233Gly) c.8602C>G (p.Arg2868Gly) c.4786C>G (p.Arg1596Gly) c.4339C>G (p.Arg1447Gly) c.3676C>G (p.Arg1226Gly) c.8191C>G (p.Arg2731Gly) | |
| 5 | g.13770765G= | CA1528431174 | DNAH5 | c.9589C= (p.Arg3197=) c.9544C= (p.Arg3182=) n.301C= c.9697C= (p.Arg3233=) c.8602C= (p.Arg2868=) c.4786C= (p.Arg1596=) c.4339C= (p.Arg1447=) c.3676C= (p.Arg1226=) c.8191C= (p.Arg2731=) | |
| 5 | g.13770765G>T | CA443535496 | DNAH5 | c.9589C>A (p.Arg3197=) c.9544C>A (p.Arg3182=) n.301C>A c.9697C>A (p.Arg3233=) c.8602C>A (p.Arg2868=) c.4786C>A (p.Arg1596=) c.4339C>A (p.Arg1447=) c.3676C>A (p.Arg1226=) c.8191C>A (p.Arg2731=) | |
| 5 | g.13770766C>A | CA443535499 | DNAH5 | c.9588G>T (p.Val3196=) c.9543G>T (p.Val3181=) n.300G>T c.9696G>T (p.Val3232=) c.8601G>T (p.Val2867=) c.4785G>T (p.Val1595=) c.4338G>T (p.Val1446=) c.3675G>T (p.Val1225=) c.8190G>T (p.Val2730=) | |
| 5 | g.13770766C>G | CA443535497 | DNAH5 | c.9588G>C (p.Val3196=) c.9543G>C (p.Val3181=) n.300G>C c.9696G>C (p.Val3232=) c.8601G>C (p.Val2867=) c.4785G>C (p.Val1595=) c.4338G>C (p.Val1446=) c.3675G>C (p.Val1225=) c.8190G>C (p.Val2730=) | |
| 5 | g.13770766C>T | CA443535498 | DNAH5 | c.9588G>A (p.Val3196=) c.9543G>A (p.Val3181=) n.300G>A c.9696G>A (p.Val3232=) c.8601G>A (p.Val2867=) c.4785G>A (p.Val1595=) c.4338G>A (p.Val1446=) c.3675G>A (p.Val1225=) c.8190G>A (p.Val2730=) | ClinVar |
| 5 | g.13770767del | CA2673270114 | DNAH5 | c.9587del (p.Val3196GlyfsTer8) c.9542del (p.Val3181GlyfsTer8) n.299del c.9695del (p.Val3232GlyfsTer8) c.8600del (p.Val2867GlyfsTer8) c.9695del (p.Val3232GlyfsTer?) c.4784del (p.Val1595GlyfsTer8) c.4337del (p.Val1446GlyfsTer8) c.3674del (p.Val1225GlyfsTer8) c.8189del (p.Val2730GlyfsTer8) | gnomAD v4 |
| 5 | g.13770767A>C | CA359204144 | DNAH5 | c.9587T>G (p.Val3196Gly) c.9542T>G (p.Val3181Gly) n.299T>G c.9695T>G (p.Val3232Gly) c.8600T>G (p.Val2867Gly) c.4784T>G (p.Val1595Gly) c.4337T>G (p.Val1446Gly) c.3674T>G (p.Val1225Gly) c.8189T>G (p.Val2730Gly) | |
| 5 | g.13770767A>G | CA359204145 | DNAH5 | c.9587T>C (p.Val3196Ala) c.9542T>C (p.Val3181Ala) n.299T>C c.9695T>C (p.Val3232Ala) c.8600T>C (p.Val2867Ala) c.4784T>C (p.Val1595Ala) c.4337T>C (p.Val1446Ala) c.3674T>C (p.Val1225Ala) c.8189T>C (p.Val2730Ala) | gnomAD v4 |
| 5 | g.13770767A>T | CA359204147 | DNAH5 | c.9587T>A (p.Val3196Glu) c.9542T>A (p.Val3181Glu) n.299T>A c.9695T>A (p.Val3232Glu) c.8600T>A (p.Val2867Glu) c.4784T>A (p.Val1595Glu) c.4337T>A (p.Val1446Glu) c.3674T>A (p.Val1225Glu) c.8189T>A (p.Val2730Glu) | |
| 5 | g.13770768C>A | CA359204149 | DNAH5 | c.9586G>T (p.Val3196Leu) c.9541G>T (p.Val3181Leu) n.298G>T c.9694G>T (p.Val3232Leu) c.8599G>T (p.Val2867Leu) c.4783G>T (p.Val1595Leu) c.4336G>T (p.Val1446Leu) c.3673G>T (p.Val1225Leu) c.8188G>T (p.Val2730Leu) | |
| 5 | g.13770768C= | CA1528431175 | DNAH5 | c.9586G= (p.Val3196=) c.9541G= (p.Val3181=) n.298G= c.9694G= (p.Val3232=) c.8599G= (p.Val2867=) c.4783G= (p.Val1595=) c.4336G= (p.Val1446=) c.3673G= (p.Val1225=) c.8188G= (p.Val2730=) | |
| 5 | g.13770768C>G | CA359204153 | DNAH5 | c.9586G>C (p.Val3196Leu) c.9541G>C (p.Val3181Leu) n.298G>C c.9694G>C (p.Val3232Leu) c.8599G>C (p.Val2867Leu) c.4783G>C (p.Val1595Leu) c.4336G>C (p.Val1446Leu) c.3673G>C (p.Val1225Leu) c.8188G>C (p.Val2730Leu) | |
| 5 | g.13770768C>T | CA3202509 | DNAH5 | c.9586G>A (p.Val3196Met) c.9541G>A (p.Val3181Met) n.298G>A c.9694G>A (p.Val3232Met) c.8599G>A (p.Val2867Met) c.4783G>A (p.Val1595Met) c.4336G>A (p.Val1446Met) c.3673G>A (p.Val1225Met) c.8188G>A (p.Val2730Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770769C>A | CA359204158 | DNAH5 | c.9585G>T (p.Glu3195Asp) c.9540G>T (p.Glu3180Asp) n.297G>T c.9693G>T (p.Glu3231Asp) c.8598G>T (p.Glu2866Asp) c.4782G>T (p.Glu1594Asp) c.4335G>T (p.Glu1445Asp) c.3672G>T (p.Glu1224Asp) c.8187G>T (p.Glu2729Asp) | |
| 5 | g.13770769C>G | CA359204161 | DNAH5 | c.9585G>C (p.Glu3195Asp) c.9540G>C (p.Glu3180Asp) n.297G>C c.9693G>C (p.Glu3231Asp) c.8598G>C (p.Glu2866Asp) c.4782G>C (p.Glu1594Asp) c.4335G>C (p.Glu1445Asp) c.3672G>C (p.Glu1224Asp) c.8187G>C (p.Glu2729Asp) | gnomAD v4 |
| 5 | g.13770769C>T | CA443535503 | DNAH5 | c.9585G>A (p.Glu3195=) c.9540G>A (p.Glu3180=) n.297G>A c.9693G>A (p.Glu3231=) c.8598G>A (p.Glu2866=) c.4782G>A (p.Glu1594=) c.4335G>A (p.Glu1445=) c.3672G>A (p.Glu1224=) c.8187G>A (p.Glu2729=) | |
| 5 | g.13770770T>A | CA359204167 | DNAH5 | c.9584A>T (p.Glu3195Val) c.9539A>T (p.Glu3180Val) n.296A>T c.9692A>T (p.Glu3231Val) c.8597A>T (p.Glu2866Val) c.4781A>T (p.Glu1594Val) c.4334A>T (p.Glu1445Val) c.3671A>T (p.Glu1224Val) c.8186A>T (p.Glu2729Val) | |
| 5 | g.13770770T>C | CA359204169 | DNAH5 | c.9584A>G (p.Glu3195Gly) c.9539A>G (p.Glu3180Gly) n.296A>G c.9692A>G (p.Glu3231Gly) c.8597A>G (p.Glu2866Gly) c.4781A>G (p.Glu1594Gly) c.4334A>G (p.Glu1445Gly) c.3671A>G (p.Glu1224Gly) c.8186A>G (p.Glu2729Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13770770T>G | CA359204171 | DNAH5 | c.9584A>C (p.Glu3195Ala) c.9539A>C (p.Glu3180Ala) n.296A>C c.9692A>C (p.Glu3231Ala) c.8597A>C (p.Glu2866Ala) c.4781A>C (p.Glu1594Ala) c.4334A>C (p.Glu1445Ala) c.3671A>C (p.Glu1224Ala) c.8186A>C (p.Glu2729Ala) | |
| 5 | g.13770770T= | CA1528431176 | DNAH5 | c.9584A= (p.Glu3195=) c.9539A= (p.Glu3180=) n.296A= c.9692A= (p.Glu3231=) c.8597A= (p.Glu2866=) c.4781A= (p.Glu1594=) c.4334A= (p.Glu1445=) c.3671A= (p.Glu1224=) c.8186A= (p.Glu2729=) | |
| 5 | g.13770771C>A | CA359204179 | DNAH5 | c.9583G>T (p.Glu3195Ter) c.9538G>T (p.Glu3180Ter) n.295G>T c.9691G>T (p.Glu3231Ter) c.8596G>T (p.Glu2866Ter) c.4780G>T (p.Glu1594Ter) c.4333G>T (p.Glu1445Ter) c.3670G>T (p.Glu1224Ter) c.8185G>T (p.Glu2729Ter) | |
| 5 | g.13770771C= | CA1528431177 | DNAH5 | c.9583G= (p.Glu3195=) c.9538G= (p.Glu3180=) n.295G= c.9691G= (p.Glu3231=) c.8596G= (p.Glu2866=) c.4780G= (p.Glu1594=) c.4333G= (p.Glu1445=) c.3670G= (p.Glu1224=) c.8185G= (p.Glu2729=) | |
| 5 | g.13770771C>G | CA359204176 | DNAH5 | c.9583G>C (p.Glu3195Gln) c.9538G>C (p.Glu3180Gln) n.295G>C c.9691G>C (p.Glu3231Gln) c.8596G>C (p.Glu2866Gln) c.4780G>C (p.Glu1594Gln) c.4333G>C (p.Glu1445Gln) c.3670G>C (p.Glu1224Gln) c.8185G>C (p.Glu2729Gln) | |
| 5 | g.13770771C>T | CA359204174 | DNAH5 | c.9583G>A (p.Glu3195Lys) c.9538G>A (p.Glu3180Lys) n.295G>A c.9691G>A (p.Glu3231Lys) c.8596G>A (p.Glu2866Lys) c.4780G>A (p.Glu1594Lys) c.4333G>A (p.Glu1445Lys) c.3670G>A (p.Glu1224Lys) c.8185G>A (p.Glu2729Lys) | dbSNP |
| 5 | g.13770772C>A | CA443535509 | DNAH5 | c.9582G>T (p.Val3194=) c.9537G>T (p.Val3179=) n.294G>T c.9690G>T (p.Val3230=) c.8595G>T (p.Val2865=) c.4779G>T (p.Val1593=) c.4332G>T (p.Val1444=) c.3669G>T (p.Val1223=) c.8184G>T (p.Val2728=) | |
| 5 | g.13770772C>G | CA443535507 | DNAH5 | c.9582G>C (p.Val3194=) c.9537G>C (p.Val3179=) n.294G>C c.9690G>C (p.Val3230=) c.8595G>C (p.Val2865=) c.4779G>C (p.Val1593=) c.4332G>C (p.Val1444=) c.3669G>C (p.Val1223=) c.8184G>C (p.Val2728=) | |
| 5 | g.13770772C>T | CA443535508 | DNAH5 | c.9582G>A (p.Val3194=) c.9537G>A (p.Val3179=) n.294G>A c.9690G>A (p.Val3230=) c.8595G>A (p.Val2865=) c.4779G>A (p.Val1593=) c.4332G>A (p.Val1444=) c.3669G>A (p.Val1223=) c.8184G>A (p.Val2728=) | |
| 5 | g.13770773A>C | CA359204182 | DNAH5 | c.9581T>G (p.Val3194Gly) c.9536T>G (p.Val3179Gly) n.293T>G c.9689T>G (p.Val3230Gly) c.8594T>G (p.Val2865Gly) c.4778T>G (p.Val1593Gly) c.4331T>G (p.Val1444Gly) c.3668T>G (p.Val1223Gly) c.8183T>G (p.Val2728Gly) | |
| 5 | g.13770773A>G | CA359204186 | DNAH5 | c.9581T>C (p.Val3194Ala) c.9536T>C (p.Val3179Ala) n.293T>C c.9689T>C (p.Val3230Ala) c.8594T>C (p.Val2865Ala) c.4778T>C (p.Val1593Ala) c.4331T>C (p.Val1444Ala) c.3668T>C (p.Val1223Ala) c.8183T>C (p.Val2728Ala) | |
| 5 | g.13770773A>T | CA359204185 | DNAH5 | c.9581T>A (p.Val3194Glu) c.9536T>A (p.Val3179Glu) n.293T>A c.9689T>A (p.Val3230Glu) c.8594T>A (p.Val2865Glu) c.4778T>A (p.Val1593Glu) c.4331T>A (p.Val1444Glu) c.3668T>A (p.Val1223Glu) c.8183T>A (p.Val2728Glu) | |
| 5 | g.13770774C>A | CA359204187 | DNAH5 | c.9580G>T (p.Val3194Leu) c.9535G>T (p.Val3179Leu) n.292G>T c.9688G>T (p.Val3230Leu) c.8593G>T (p.Val2865Leu) c.4777G>T (p.Val1593Leu) c.4330G>T (p.Val1444Leu) c.3667G>T (p.Val1223Leu) c.8182G>T (p.Val2728Leu) | ClinVar dbSNP |
| 5 | g.13770774C>G | CA359204189 | DNAH5 | c.9580G>C (p.Val3194Leu) c.9535G>C (p.Val3179Leu) n.292G>C c.9688G>C (p.Val3230Leu) c.8593G>C (p.Val2865Leu) c.4777G>C (p.Val1593Leu) c.4330G>C (p.Val1444Leu) c.3667G>C (p.Val1223Leu) c.8182G>C (p.Val2728Leu) | |
| 5 | g.13770774C>T | CA359204188 | DNAH5 | c.9580G>A (p.Val3194Met) c.9535G>A (p.Val3179Met) n.292G>A c.9688G>A (p.Val3230Met) c.8593G>A (p.Val2865Met) c.4777G>A (p.Val1593Met) c.4330G>A (p.Val1444Met) c.3667G>A (p.Val1223Met) c.8182G>A (p.Val2728Met) | |
| 5 | g.13770775A= | CA1528431178 | DNAH5 | c.9579T= (p.His3193=) c.9534T= (p.His3178=) n.291T= c.9687T= (p.His3229=) c.8592T= (p.His2864=) c.4776T= (p.His1592=) c.4329T= (p.His1443=) c.3666T= (p.His1222=) c.8181T= (p.His2727=) | |
| 5 | g.13770775A>C | CA359204190 | DNAH5 | c.9579T>G (p.His3193Gln) c.9534T>G (p.His3178Gln) n.291T>G c.9687T>G (p.His3229Gln) c.8592T>G (p.His2864Gln) c.4776T>G (p.His1592Gln) c.4329T>G (p.His1443Gln) c.3666T>G (p.His1222Gln) c.8181T>G (p.His2727Gln) | gnomAD v4 COSMIC |
| 5 | g.13770775A>G | CA3202510 | DNAH5 | c.9579T>C (p.His3193=) c.9534T>C (p.His3178=) n.291T>C c.9687T>C (p.His3229=) c.8592T>C (p.His2864=) c.4776T>C (p.His1592=) c.4329T>C (p.His1443=) c.3666T>C (p.His1222=) c.8181T>C (p.His2727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13770775A>T | CA359204193 | DNAH5 | c.9579T>A (p.His3193Gln) c.9534T>A (p.His3178Gln) n.291T>A c.9687T>A (p.His3229Gln) c.8592T>A (p.His2864Gln) c.4776T>A (p.His1592Gln) c.4329T>A (p.His1443Gln) c.3666T>A (p.His1222Gln) c.8181T>A (p.His2727Gln) | |
| 5 | g.13770776T>A | CA359204196 | DNAH5 | c.9578A>T (p.His3193Leu) c.9533A>T (p.His3178Leu) n.290A>T c.9686A>T (p.His3229Leu) c.8591A>T (p.His2864Leu) c.4775A>T (p.His1592Leu) c.4328A>T (p.His1443Leu) c.3665A>T (p.His1222Leu) c.8180A>T (p.His2727Leu) | |
| 5 | g.13770776T>C | CA3202511 | DNAH5 | c.9578A>G (p.His3193Arg) c.9533A>G (p.His3178Arg) n.290A>G c.9686A>G (p.His3229Arg) c.8591A>G (p.His2864Arg) c.4775A>G (p.His1592Arg) c.4328A>G (p.His1443Arg) c.3665A>G (p.His1222Arg) c.8180A>G (p.His2727Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770776T>G | CA359204199 | DNAH5 | c.9578A>C (p.His3193Pro) c.9533A>C (p.His3178Pro) n.290A>C c.9686A>C (p.His3229Pro) c.8591A>C (p.His2864Pro) c.4775A>C (p.His1592Pro) c.4328A>C (p.His1443Pro) c.3665A>C (p.His1222Pro) c.8180A>C (p.His2727Pro) | gnomAD v4 |
| 5 | g.13770776T= | CA1528431179 | DNAH5 | c.9578A= (p.His3193=) c.9533A= (p.His3178=) n.290A= c.9686A= (p.His3229=) c.8591A= (p.His2864=) c.4775A= (p.His1592=) c.4328A= (p.His1443=) c.3665A= (p.His1222=) c.8180A= (p.His2727=) | |
| 5 | g.13770777G>A | CA359204201 | DNAH5 | c.9577C>T (p.His3193Tyr) c.9532C>T (p.His3178Tyr) n.289C>T c.9685C>T (p.His3229Tyr) c.8590C>T (p.His2864Tyr) c.4774C>T (p.His1592Tyr) c.4327C>T (p.His1443Tyr) c.3664C>T (p.His1222Tyr) c.8179C>T (p.His2727Tyr) | |
| 5 | g.13770777G>C | CA359204203 | DNAH5 | c.9577C>G (p.His3193Asp) c.9532C>G (p.His3178Asp) n.289C>G c.9685C>G (p.His3229Asp) c.8590C>G (p.His2864Asp) c.4774C>G (p.His1592Asp) c.4327C>G (p.His1443Asp) c.3664C>G (p.His1222Asp) c.8179C>G (p.His2727Asp) | |
| 5 | g.13770777G>T | CA359204205 | DNAH5 | c.9577C>A (p.His3193Asn) c.9532C>A (p.His3178Asn) n.289C>A c.9685C>A (p.His3229Asn) c.8590C>A (p.His2864Asn) c.4774C>A (p.His1592Asn) c.4327C>A (p.His1443Asn) c.3664C>A (p.His1222Asn) c.8179C>A (p.His2727Asn) |