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 |
|---|---|---|---|---|---|
| 7 | g.21880776T>A | CA366964008 | DNAH11 | c.12270T>A (p.Cys4090Ter) c.12291T>A (p.Cys4097Ter) | |
| 7 | g.21880776T>C | CA453967869 | DNAH11 | c.12270T>C (p.Cys4090=) c.12291T>C (p.Cys4097=) | |
| 7 | g.21880776T>G | CA366964009 | DNAH11 | c.12270T>G (p.Cys4090Trp) c.12291T>G (p.Cys4097Trp) | |
| 7 | g.21880777G>A | CA366964012 | DNAH11 | c.12271G>A (p.Val4091Ile) c.12292G>A (p.Val4098Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21880777G>C | CA366964011 | DNAH11 | c.12271G>C (p.Val4091Leu) c.12292G>C (p.Val4098Leu) | |
| 7 | g.21880777G= | CA1693712704 | DNAH11 | c.12271G= (p.Val4091=) c.12292G= (p.Val4098=) | |
| 7 | g.21880777G>T | CA366964010 | DNAH11 | c.12271G>T (p.Val4091Phe) c.12292G>T (p.Val4098Phe) | |
| 7 | g.21880778T>A | CA366964013 | DNAH11 | c.12272T>A (p.Val4091Asp) c.12293T>A (p.Val4098Asp) | |
| 7 | g.21880778T>C | CA366964014 | DNAH11 | c.12272T>C (p.Val4091Ala) c.12293T>C (p.Val4098Ala) | |
| 7 | g.21880778T>G | CA366964015 | DNAH11 | c.12272T>G (p.Val4091Gly) c.12293T>G (p.Val4098Gly) | |
| 7 | g.21880779T>A | CA453967871 | DNAH11 | c.12273T>A (p.Val4091=) c.12294T>A (p.Val4098=) | ClinVar |
| 7 | g.21880779T>C | CA453967872 | DNAH11 | c.12273T>C (p.Val4091=) c.12294T>C (p.Val4098=) | |
| 7 | g.21880779T>G | CA453967873 | DNAH11 | c.12273T>G (p.Val4091=) c.12294T>G (p.Val4098=) | |
| 7 | g.21880780G>A | CA366964016 | DNAH11 | c.12274G>A (p.Ala4092Thr) c.12295G>A (p.Ala4099Thr) | |
| 7 | g.21880780G>C | CA366964017 | DNAH11 | c.12274G>C (p.Ala4092Pro) c.12295G>C (p.Ala4099Pro) | |
| 7 | g.21880780G>T | CA366964018 | DNAH11 | c.12274G>T (p.Ala4092Ser) c.12295G>T (p.Ala4099Ser) | gnomAD v4 |
| 7 | g.21880781C>A | CA366964019 | DNAH11 | c.12275C>A (p.Ala4092Asp) c.12296C>A (p.Ala4099Asp) | dbSNP |
| 7 | g.21880781C= | CA1693712707 | DNAH11 | c.12275C= (p.Ala4092=) c.12296C= (p.Ala4099=) | |
| 7 | g.21880781C>G | CA366964021 | DNAH11 | c.12275C>G (p.Ala4092Gly) c.12296C>G (p.Ala4099Gly) | gnomAD v4 |
| 7 | g.21880781C>T | CA366964020 | DNAH11 | c.12275C>T (p.Ala4092Val) c.12296C>T (p.Ala4099Val) | |
| 7 | g.21880782T>A | CA453967875 | DNAH11 | c.12276T>A (p.Ala4092=) c.12297T>A (p.Ala4099=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.21880782T>C | CA453967876 | DNAH11 | c.12276T>C (p.Ala4092=) c.12297T>C (p.Ala4099=) | gnomAD v4 |
| 7 | g.21880782T>G | CA453967878 | DNAH11 | c.12276T>G (p.Ala4092=) c.12297T>G (p.Ala4099=) | |
| 7 | g.21880782T= | CA1693712710 | DNAH11 | c.12276T= (p.Ala4092=) c.12297T= (p.Ala4099=) | |
| 7 | g.21880783G>A | CA366964022 | DNAH11 | c.12277G>A (p.Gly4093Arg) c.12298G>A (p.Gly4100Arg) | |
| 7 | g.21880783G>C | CA4183024 | DNAH11 | c.12277G>C (p.Gly4093Arg) c.12298G>C (p.Gly4100Arg) | dbSNP ExAC gnomAD v2 |
| 7 | g.21880783G= | CA1693712712 | DNAH11 | c.12277G= (p.Gly4093=) c.12298G= (p.Gly4100=) | |
| 7 | g.21880783G>T | CA366964023 | DNAH11 | c.12277G>T (p.Gly4093Trp) c.12298G>T (p.Gly4100Trp) | |
| 7 | g.21880784G>A | CA366964024 | DNAH11 | c.12278G>A (p.Gly4093Glu) c.12299G>A (p.Gly4100Glu) | |
| 7 | g.21880784G>C | CA366964025 | DNAH11 | c.12278G>C (p.Gly4093Ala) c.12299G>C (p.Gly4100Ala) | |
| 7 | g.21880784G>T | CA366964026 | DNAH11 | c.12278G>T (p.Gly4093Val) c.12299G>T (p.Gly4100Val) | |
| 7 | g.21880785G>A | CA453967880 | DNAH11 | c.12279G>A (p.Gly4093=) c.12300G>A (p.Gly4100=) | |
| 7 | g.21880785G>C | CA453967881 | DNAH11 | c.12279G>C (p.Gly4093=) c.12300G>C (p.Gly4100=) | |
| 7 | g.21880785G>T | CA453967882 | DNAH11 | c.12279G>T (p.Gly4093=) c.12300G>T (p.Gly4100=) | |
| 7 | g.21880786A= | CA1693712714 | DNAH11 | c.12280A= (p.Arg4094=) c.12301A= (p.Arg4101=) | |
| 7 | g.21880786A>C | CA155158714 | DNAH11 | c.12280A>C (p.Arg4094=) c.12301A>C (p.Arg4101=) | dbSNP |
| 7 | g.21880786A>G | CA366964027 | DNAH11 | c.12280A>G (p.Arg4094Gly) c.12301A>G (p.Arg4101Gly) | COSMIC COSMIC |
| 7 | g.21880786A>T | CA366964028 | DNAH11 | c.12280A>T (p.Arg4094Ter) c.12301A>T (p.Arg4101Ter) | |
| 7 | g.21880787G>A | CA366964029 | DNAH11 | c.12281G>A (p.Arg4094Lys) c.12302G>A (p.Arg4101Lys) | gnomAD v4 |
| 7 | g.21880787G>C | CA366964030 | DNAH11 | c.12281G>C (p.Arg4094Thr) c.12302G>C (p.Arg4101Thr) | |
| 7 | g.21880787G= | CA1693712717 | DNAH11 | c.12281G= (p.Arg4094=) c.12302G= (p.Arg4101=) | |
| 7 | g.21880787G>T | CA366964031 | DNAH11 | c.12281G>T (p.Arg4094Ile) c.12302G>T (p.Arg4101Ile) | dbSNP gnomAD v4 |
| 7 | g.21880788A= | CA1693712722 | DNAH11 | c.12282A= (p.Arg4094=) c.12303A= (p.Arg4101=) | |
| 7 | g.21880788A>C | CA366964032 | DNAH11 | c.12282A>C (p.Arg4094Ser) c.12303A>C (p.Arg4101Ser) | |
| 7 | g.21880788A>G | CA453967883 | DNAH11 | c.12282A>G (p.Arg4094=) c.12303A>G (p.Arg4101=) | |
| 7 | g.21880788A>T | CA366964033 | DNAH11 | c.12282A>T (p.Arg4094Ser) c.12303A>T (p.Arg4101Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.21880789C>A | CA366964034 | DNAH11 | c.12283C>A (p.Leu4095Met) c.12304C>A (p.Leu4102Met) | |
| 7 | g.21880789C= | CA1693712724 | DNAH11 | c.12283C= (p.Leu4095=) c.12304C= (p.Leu4102=) | |
| 7 | g.21880789C>G | CA366964035 | DNAH11 | c.12283C>G (p.Leu4095Val) c.12304C>G (p.Leu4102Val) | gnomAD v4 |
| 7 | g.21880789C>T | CA453967884 | DNAH11 | c.12283C>T (p.Leu4095=) c.12304C>T (p.Leu4102=) | dbSNP gnomAD v4 |