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 |
|---|---|---|---|---|---|
| 10 | g.104064529_104064744del | CA2739276001 | COL17A1 | c.608-145_678del n.723-145_793del c.560-145_630del | ClinVar |
| 10 | g.104064587G>A | CA378077713 | COL17A1 | c.617C>T (p.Thr206Ile) n.732C>T c.569C>T (p.Thr190Ile) | |
| 10 | g.104064587G>C | CA378077710 | COL17A1 | c.617C>G (p.Thr206Ser) n.732C>G c.569C>G (p.Thr190Ser) | gnomAD v4 |
| 10 | g.104064587G>T | CA378077712 | COL17A1 | c.617C>A (p.Thr206Asn) n.732C>A c.569C>A (p.Thr190Asn) | ClinVar dbSNP |
| 10 | g.104064588del | CA2610800294 | COL17A1 | c.616del (p.Thr206ProfsTer?) n.731del c.568del (p.Thr190ProfsTer?) | gnomAD v4 |
| 10 | g.104064588T>A | CA378077716 | COL17A1 | c.616A>T (p.Thr206Ser) n.731A>T c.568A>T (p.Thr190Ser) | |
| 10 | g.104064588T>C | CA378077719 | COL17A1 | c.616A>G (p.Thr206Ala) n.731A>G c.568A>G (p.Thr190Ala) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104064588T>G | CA378077721 | COL17A1 | c.616A>C (p.Thr206Pro) n.731A>C c.568A>C (p.Thr190Pro) | |
| 10 | g.104064589G>A | CA471338912 | COL17A1 | c.615C>T (p.Gly205=) n.730C>T c.567C>T (p.Gly189=) | dbSNP gnomAD v4 |
| 10 | g.104064589G>C | CA471338914 | COL17A1 | c.615C>G (p.Gly205=) n.730C>G c.567C>G (p.Gly189=) | |
| 10 | g.104064589G= | CA1933374544 | COL17A1 | c.615C= (p.Gly205=) n.730C= c.567C= (p.Gly189=) | |
| 10 | g.104064589G>T | CA471338913 | COL17A1 | c.615C>A (p.Gly205=) n.730C>A c.567C>A (p.Gly189=) | |
| 10 | g.104064590C>A | CA378077725 | COL17A1 | c.614G>T (p.Gly205Val) n.729G>T c.566G>T (p.Gly189Val) | |
| 10 | g.104064590C>G | CA378077726 | COL17A1 | c.614G>C (p.Gly205Ala) n.729G>C c.566G>C (p.Gly189Ala) | |
| 10 | g.104064590C>T | CA378077727 | COL17A1 | c.614G>A (p.Gly205Asp) n.729G>A c.566G>A (p.Gly189Asp) | gnomAD v4 |
| 10 | g.104064591C>A | CA378077731 | COL17A1 | c.613G>T (p.Gly205Cys) n.728G>T c.565G>T (p.Gly189Cys) | |
| 10 | g.104064591C>G | CA378077736 | COL17A1 | c.613G>C (p.Gly205Arg) n.728G>C c.565G>C (p.Gly189Arg) | |
| 10 | g.104064591C>T | CA378077729 | COL17A1 | c.613G>A (p.Gly205Ser) n.728G>A c.565G>A (p.Gly189Ser) | |
| 10 | g.104064592T>A | CA471338919 | COL17A1 | c.612A>T (p.Ser204=) n.727A>T c.564A>T (p.Ser188=) | |
| 10 | g.104064592T>C | CA471338922 | COL17A1 | c.612A>G (p.Ser204=) n.727A>G c.564A>G (p.Ser188=) | |
| 10 | g.104064592T>G | CA471338924 | COL17A1 | c.612A>C (p.Ser204=) n.727A>C c.564A>C (p.Ser188=) | |
| 10 | g.104064593G>A | CA378077744 | COL17A1 | c.611C>T (p.Ser204Leu) n.726C>T c.563C>T (p.Ser188Leu) | gnomAD v4 |
| 10 | g.104064593G>C | CA378077740 | COL17A1 | c.611C>G (p.Ser204Ter) n.726C>G c.563C>G (p.Ser188Ter) | gnomAD v4 |
| 10 | g.104064593G>T | CA378077743 | COL17A1 | c.611C>A (p.Ser204Ter) n.726C>A c.563C>A (p.Ser188Ter) | |
| 10 | g.104064594A>C | CA378077745 | COL17A1 | c.610T>G (p.Ser204Ala) n.725T>G c.562T>G (p.Ser188Ala) | |
| 10 | g.104064594A>G | CA378077746 | COL17A1 | c.610T>C (p.Ser204Pro) n.725T>C c.562T>C (p.Ser188Pro) | |
| 10 | g.104064594A>T | CA378077747 | COL17A1 | c.610T>A (p.Ser204Thr) n.725T>A c.562T>A (p.Ser188Thr) | |
| 10 | g.104064595C>A | CA471338926 | COL17A1 | c.609G>T (p.Val203=) n.724G>T c.561G>T (p.Val187=) | gnomAD v4 |
| 10 | g.104064595C>G | CA471338927 | COL17A1 | c.609G>C (p.Val203=) n.724G>C c.561G>C (p.Val187=) | |
| 10 | g.104064595C>T | CA471338928 | COL17A1 | c.609G>A (p.Val203=) n.724G>A c.561G>A (p.Val187=) | |
| 10 | g.104064596A= | CA1933374545 | COL17A1 | c.608T= (p.Val203=) n.723T= c.560T= (p.Val187=) | |
| 10 | g.104064596A>C | CA378077748 | COL17A1 | c.608T>G (p.Val203Gly) n.723T>G c.560T>G (p.Val187Gly) | |
| 10 | g.104064596A>G | CA378077749 | COL17A1 | c.608T>C (p.Val203Ala) n.723T>C c.560T>C (p.Val187Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104064596A>T | CA378077751 | COL17A1 | c.608T>A (p.Val203Glu) n.723T>A c.560T>A (p.Val187Glu) | |
| 10 | g.104064597C>A | CA378077753 | COL17A1 | c.608-1G>T (n.608-1G>T) n.723-1G>T c.560-1G>T (n.560-1G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104064597C>G | CA378077754 | COL17A1 | c.608-1G>C (n.608-1G>C) n.723-1G>C c.560-1G>C (n.560-1G>C) | |
| 10 | g.104064597C>T | CA378077755 | COL17A1 | c.608-1G>A (n.608-1G>A) n.723-1G>A c.560-1G>A (n.560-1G>A) | |
| 10 | g.104064598T>A | CA378077758 | COL17A1 | c.608-2A>T (n.608-2A>T) n.723-2A>T c.560-2A>T (n.560-2A>T) | |
| 10 | g.104064598T>C | CA5679350 | COL17A1 | c.608-2A>G (n.608-2A>G) n.723-2A>G c.560-2A>G (n.560-2A>G) | dbSNP ExAC gnomAD v4 |
| 10 | g.104064598T>G | CA378077762 | COL17A1 | c.608-2A>C (n.608-2A>C) n.723-2A>C c.560-2A>C (n.560-2A>C) | |
| 10 | g.104064598T= | CA1933374546 | COL17A1 | c.608-2A= (n.608-2A=) n.723-2A= c.560-2A= (n.560-2A=) | |
| 10 | g.104064599G>A | CA596111338 | COL17A1 | c.608-3C>T (n.608-3C>T) n.723-3C>T c.560-3C>T (n.560-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104064599G= | CA1933374547 | COL17A1 | c.608-3C= (n.608-3C=) n.723-3C= c.560-3C= (n.560-3C=) | |
| 10 | g.104064599G>T | CA645568175 | COL17A1 | c.608-3C>A (n.608-3C>A) n.723-3C>A c.560-3C>A (n.560-3C>A) | COSMIC |
| 10 | g.104064600G>T | CA2789321537 | COL17A1 | c.608-4C>A (n.608-4C>A) n.723-4C>A c.560-4C>A (n.560-4C>A) | |
| 10 | g.104064600_104064601delinsGA | CA1933374548 | COL17A1 | c.608-5_608-4delinsTC (n.608-5_608-4delinsTC) n.723-5_723-4delinsTC c.560-5_560-4delinsTC (n.560-5_560-4delinsTC) | |
| 10 | g.104064601A= | CA1933374549 | COL17A1 | c.608-5T= (n.608-5T=) n.723-5T= c.560-5T= (n.560-5T=) | |
| 10 | g.104064601A>G | CA212425612 | COL17A1 | c.608-5T>C (n.608-5T>C) n.723-5T>C c.560-5T>C (n.560-5T>C) | dbSNP |
| 10 | g.104064603del | CA596111339 | COL17A1 | c.608-5del (n.608-5del) n.723-5del c.560-5del (n.560-5del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104064603A>G | CA2610800304 | COL17A1 | c.608-7T>C (n.608-7T>C) n.723-7T>C c.560-7T>C (n.560-7T>C) | gnomAD v4 |