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 |
|---|---|---|---|---|---|
| 6 | g.136826324A>C | CA365855721 | PEX7 | c.194A>C (p.Asp65Ala) c.69A>C c.80A>C (p.Asp27Ala) c.199A>C (p.Thr67Pro) c.74A>C (p.Asp25Ala) | |
| 6 | g.136826324A>G | CA365855722 | PEX7 | c.194A>G (p.Asp65Gly) c.69A>G c.80A>G (p.Asp27Gly) c.199A>G (p.Thr67Ala) c.74A>G (p.Asp25Gly) | |
| 6 | g.136826324A>T | CA365855723 | PEX7 | c.194A>T (p.Asp65Val) c.69A>T c.80A>T (p.Asp27Val) c.199A>T (p.Thr67Ser) c.74A>T (p.Asp25Val) | |
| 6 | g.136826325C>A | CA365855724 | PEX7 | c.195C>A (p.Asp65Glu) c.70C>A c.81C>A (p.Asp27Glu) c.200C>A (p.Thr67Asn) c.75C>A (p.Asp25Glu) | |
| 6 | g.136826325C>G | CA365855725 | PEX7 | c.195C>G (p.Asp65Glu) c.70C>G c.81C>G (p.Asp27Glu) c.200C>G (p.Thr67Ser) c.75C>G (p.Asp25Glu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136826325C>T | CA452376279 | PEX7 | c.195C>T (p.Asp65=) c.70C>T c.81C>T (p.Asp27=) c.200C>T (p.Thr67Ile) c.75C>T (p.Asp25=) | |
| 6 | g.136826325_136826326del | CA2695207124 | PEX7 | c.195_196del (p.Asp65GlufsTer3) c.70_71del c.81_82del (p.Asp27GlufsTer3) c.200_201del (p.Thr67ArgfsTer?) c.75_76del (p.Asp25GlufsTer3) | |
| 6 | g.136826326T>A | CA365855726 | PEX7 | c.196T>A (p.Trp66Arg) c.71T>A c.82T>A (p.Trp28Arg) c.201T>A (p.Thr67=) c.76T>A (p.Trp26Arg) | |
| 6 | g.136826326T>C | CA365855727 | PEX7 | c.196T>C (p.Trp66Arg) c.71T>C c.82T>C (p.Trp28Arg) c.201T>C (p.Thr67=) c.76T>C (p.Trp26Arg) | |
| 6 | g.136826326T>G | CA365855728 | PEX7 | c.196T>G (p.Trp66Gly) c.71T>G c.82T>G (p.Trp28Gly) c.201T>G (p.Thr67=) c.76T>G (p.Trp26Gly) | |
| 6 | g.136826327G>A | CA365855731 | PEX7 | c.197G>A (p.Trp66Ter) c.72G>A c.83G>A (p.Trp28Ter) c.202G>A (p.Gly68Arg) c.77G>A (p.Trp26Ter) | |
| 6 | g.136826327G>C | CA365855730 | PEX7 | c.197G>C (p.Trp66Ser) c.72G>C c.83G>C (p.Trp28Ser) c.202G>C (p.Gly68Arg) c.77G>C (p.Trp26Ser) | |
| 6 | g.136826327G>T | CA365855729 | PEX7 | c.197G>T (p.Trp66Leu) c.72G>T c.83G>T (p.Trp28Leu) c.202G>T (p.Gly68Ter) c.77G>T (p.Trp26Leu) | |
| 6 | g.136826328G>A | CA4017526 | PEX7 | c.198G>A (p.Trp66Ter) c.73G>A c.84G>A (p.Trp28Ter) c.203G>A (p.Gly68Glu) c.78G>A (p.Trp26Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826328G>C | CA365855732 | PEX7 | c.198G>C (p.Trp66Cys) c.73G>C c.84G>C (p.Trp28Cys) c.203G>C (p.Gly68Ala) c.78G>C (p.Trp26Cys) | |
| 6 | g.136826328G>T | CA365855733 | PEX7 | c.198G>T (p.Trp66Cys) c.73G>T c.84G>T (p.Trp28Cys) c.203G>T (p.Gly68Val) c.78G>T (p.Trp26Cys) | gnomAD v4 |
| 6 | g.136826329A>C | CA4017527 | PEX7 | c.199A>C (p.Asn67His) c.74A>C c.85A>C (p.Asn29His) c.204A>C (p.Gly68=) c.79A>C (p.Asn27His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826329A>G | CA365855734 | PEX7 | c.199A>G (p.Asn67Asp) c.74A>G c.85A>G (p.Asn29Asp) c.204A>G (p.Gly68=) c.79A>G (p.Asn27Asp) | gnomAD v4 |
| 6 | g.136826329A>T | CA365855735 | PEX7 | c.199A>T (p.Asn67Tyr) c.74A>T c.85A>T (p.Asn29Tyr) c.204A>T (p.Gly68=) c.79A>T (p.Asn27Tyr) | |
| 6 | g.136826330A>C | CA365855736 | PEX7 | c.200A>C (p.Asn67Thr) c.75A>C c.86A>C (p.Asn29Thr) c.205A>C (p.Met69Leu) c.80A>C (p.Asn27Thr) | |
| 6 | g.136826330A>G | CA365855737 | PEX7 | c.200A>G (p.Asn67Ser) c.75A>G c.86A>G (p.Asn29Ser) c.205A>G (p.Met69Val) c.80A>G (p.Asn27Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136826330A>T | CA365855738 | PEX7 | c.200A>T (p.Asn67Ile) c.75A>T c.86A>T (p.Asn29Ile) c.205A>T (p.Met69Leu) c.80A>T (p.Asn27Ile) | |
| 6 | g.136826331T>A | CA365855739 | PEX7 | c.201T>A (p.Asn67Lys) c.76T>A c.87T>A (p.Asn29Lys) c.206T>A (p.Met69Lys) c.81T>A (p.Asn27Lys) | |
| 6 | g.136826331T>C | CA452376311 | PEX7 | c.201T>C (p.Asn67=) c.76T>C c.87T>C (p.Asn29=) c.206T>C (p.Met69Thr) c.81T>C (p.Asn27=) | ClinVar |
| 6 | g.136826331T>G | CA365855740 | PEX7 | c.201T>G (p.Asn67Lys) c.76T>G c.87T>G (p.Asn29Lys) c.206T>G (p.Met69Arg) c.81T>G (p.Asn27Lys) | |
| 6 | g.136826332G>A | CA365855743 | PEX7 | c.202G>A (p.Asp68Asn) c.77G>A c.88G>A (p.Asp30Asn) c.207G>A (p.Met69Ile) c.82G>A (p.Asp28Asn) | gnomAD v4 |
| 6 | g.136826332G>C | CA365855742 | PEX7 | c.202G>C (p.Asp68His) c.77G>C c.88G>C (p.Asp30His) c.207G>C (p.Met69Ile) c.82G>C (p.Asp28His) | |
| 6 | g.136826332G>T | CA365855741 | PEX7 | c.202G>T (p.Asp68Tyr) c.77G>T c.88G>T (p.Asp30Tyr) c.207G>T (p.Met69Ile) c.82G>T (p.Asp28Tyr) | |
| 6 | g.136826333A>C | CA365855744 | PEX7 | c.203A>C (p.Asp68Ala) c.78A>C c.89A>C (p.Asp30Ala) c.208A>C (p.Met70Leu) c.83A>C (p.Asp28Ala) | |
| 6 | g.136826333A>G | CA365855745 | PEX7 | c.203A>G (p.Asp68Gly) c.78A>G c.89A>G (p.Asp30Gly) c.208A>G (p.Met70Val) c.83A>G (p.Asp28Gly) | |
| 6 | g.136826333A>T | CA4017528 | PEX7 | c.203A>T (p.Asp68Val) c.78A>T c.89A>T (p.Asp30Val) c.208A>T (p.Met70Leu) c.83A>T (p.Asp28Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826334T>A | CA365855746 | PEX7 | c.204T>A (p.Asp68Glu) c.79T>A c.90T>A (p.Asp30Glu) c.209T>A (p.Met70Lys) c.84T>A (p.Asp28Glu) | |
| 6 | g.136826334T>C | CA452376329 | PEX7 | c.204T>C (p.Asp68=) c.79T>C c.90T>C (p.Asp30=) c.209T>C (p.Met70Thr) c.84T>C (p.Asp28=) | |
| 6 | g.136826334T>G | CA365855747 | PEX7 | c.204T>G (p.Asp68Glu) c.79T>G c.90T>G (p.Asp30Glu) c.209T>G (p.Met70Arg) c.84T>G (p.Asp28Glu) | |
| 6 | g.136826335G>A | CA365855748 | PEX7 | c.205G>A (p.Gly69Ser) c.80G>A c.91G>A (p.Gly31Ser) c.210G>A (p.Met70Ile) c.85G>A (p.Gly29Ser) | |
| 6 | g.136826335G>C | CA365855749 | PEX7 | c.205G>C (p.Gly69Arg) c.80G>C c.91G>C (p.Gly31Arg) c.210G>C (p.Met70Ile) c.85G>C (p.Gly29Arg) | |
| 6 | g.136826335G>T | CA365855750 | PEX7 | c.205G>T (p.Gly69Cys) c.80G>T c.91G>T (p.Gly31Cys) c.210G>T (p.Met70Ile) c.85G>T (p.Gly29Cys) | |
| 6 | g.136826336del | CA2580075089 | PEX7 | c.206del (p.Gly69ValfsTer5) c.81del c.92del (p.Gly31ValfsTer5) c.211del (p.Val71PhefsTer3) c.86del (p.Gly29ValfsTer5) | ClinVar |
| 6 | g.136826336G>A | CA365855751 | PEX7 | c.206G>A (p.Gly69Asp) c.81G>A c.92G>A (p.Gly31Asp) c.211G>A (p.Val71Ile) c.86G>A (p.Gly29Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136826336G>C | CA365855752 | PEX7 | c.206G>C (p.Gly69Ala) c.81G>C c.92G>C (p.Gly31Ala) c.211G>C (p.Val71Leu) c.86G>C (p.Gly29Ala) | |
| 6 | g.136826336G>T | CA365855753 | PEX7 | c.206G>T (p.Gly69Val) c.81G>T c.92G>T (p.Gly31Val) c.211G>T (p.Val71Phe) c.86G>T (p.Gly29Val) | |
| 6 | g.136826337T>A | CA452376342 | PEX7 | c.207T>A (p.Gly69=) c.82T>A c.93T>A (p.Gly31=) c.212T>A (p.Val71Asp) c.87T>A (p.Gly29=) | |
| 6 | g.136826337T>C | CA452376345 | PEX7 | c.207T>C (p.Gly69=) c.82T>C c.93T>C (p.Gly31=) c.212T>C (p.Val71Ala) c.87T>C (p.Gly29=) | |
| 6 | g.136826337T>G | CA452376348 | PEX7 | c.207T>G (p.Gly69=) c.82T>G c.93T>G (p.Gly31=) c.212T>G (p.Val71Gly) c.87T>G (p.Gly29=) | |
| 6 | g.136826338T>A | CA365855754 | PEX7 | c.208T>A (p.Leu70Met) c.83T>A c.94T>A (p.Leu32Met) c.213T>A (p.Val71=) c.88T>A (p.Leu30Met) | |
| 6 | g.136826338T>C | CA452376352 | PEX7 | c.208T>C (p.Leu70=) c.83T>C c.94T>C (p.Leu32=) c.213T>C (p.Val71=) c.88T>C (p.Leu30=) | ClinVar dbSNP |
| 6 | g.136826338T>G | CA365855755 | PEX7 | c.208T>G (p.Leu70Val) c.83T>G c.94T>G (p.Leu32Val) c.213T>G (p.Val71=) c.88T>G (p.Leu30Val) | dbSNP |
| 6 | g.136826339T>A | CA365855757 | PEX7 | c.209T>A (p.Leu70Ter) c.84T>A c.95T>A (p.Leu32Ter) c.214T>A (p.Cys72Ser) c.89T>A (p.Leu30Ter) | |
| 6 | g.136826339T>C | CA365855758 | PEX7 | c.209T>C (p.Leu70Ser) c.84T>C c.95T>C (p.Leu32Ser) c.214T>C (p.Cys72Arg) c.89T>C (p.Leu30Ser) | |
| 6 | g.136826339T>G | CA365855756 | PEX7 | c.209T>G (p.Leu70Trp) c.84T>G c.95T>G (p.Leu32Trp) c.214T>G (p.Cys72Gly) c.89T>G (p.Leu30Trp) | ClinVar dbSNP gnomAD v4 |