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.104034102G>A | CA471502788 | COL17A1 | c.3753C>T (p.Asp1251=) c.29C>T c.3999C>T (p.Asp1333=) | |
| 10 | g.104034102G>C | CA378065212 | COL17A1 | c.3753C>G (p.Asp1251Glu) c.29C>G c.3999C>G (p.Asp1333Glu) | |
| 10 | g.104034102G>T | CA378065214 | COL17A1 | c.3753C>A (p.Asp1251Glu) c.29C>A c.3999C>A (p.Asp1333Glu) | |
| 10 | g.104034103T>A | CA378065215 | COL17A1 | c.3752A>T (p.Asp1251Val) c.28A>T c.3998A>T (p.Asp1333Val) | |
| 10 | g.104034103T>C | CA378065217 | COL17A1 | c.3752A>G (p.Asp1251Gly) c.28A>G c.3998A>G (p.Asp1333Gly) | |
| 10 | g.104034103T>G | CA378065216 | COL17A1 | c.3752A>C (p.Asp1251Ala) c.28A>C c.3998A>C (p.Asp1333Ala) | |
| 10 | g.104034104C>A | CA378065219 | COL17A1 | c.3751G>T (p.Asp1251Tyr) c.27G>T c.3997G>T (p.Asp1333Tyr) | |
| 10 | g.104034104C>G | CA378065221 | COL17A1 | c.3751G>C (p.Asp1251His) c.27G>C c.3997G>C (p.Asp1333His) | |
| 10 | g.104034104C>T | CA378065222 | COL17A1 | c.3751G>A (p.Asp1251Asn) c.27G>A c.3997G>A (p.Asp1333Asn) | dbSNP gnomAD v4 |
| 10 | g.104034105T>A | CA471502791 | COL17A1 | c.3750A>T (p.Gly1250=) c.26A>T c.3996A>T (p.Gly1332=) | dbSNP |
| 10 | g.104034105T>C | CA471502792 | COL17A1 | c.3750A>G (p.Gly1250=) c.26A>G c.3996A>G (p.Gly1332=) | |
| 10 | g.104034105T>G | CA471502794 | COL17A1 | c.3750A>C (p.Gly1250=) c.26A>C c.3996A>C (p.Gly1332=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034105T= | CA1933418134 | COL17A1 | c.3750A= (p.Gly1250=) c.26A= c.3996A= (p.Gly1332=) | |
| 10 | g.104034106C>A | CA378065223 | COL17A1 | c.3749G>T (p.Gly1250Val) c.25G>T c.3995G>T (p.Gly1332Val) | |
| 10 | g.104034106C= | CA1933418138 | COL17A1 | c.3749G= (p.Gly1250=) c.25G= c.3995G= (p.Gly1332=) | |
| 10 | g.104034106C>G | CA378065225 | COL17A1 | c.3749G>C (p.Gly1250Ala) c.25G>C c.3995G>C (p.Gly1332Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034106C>T | CA378065227 | COL17A1 | c.3749G>A (p.Gly1250Glu) c.25G>A c.3995G>A (p.Gly1332Glu) | |
| 10 | g.104034107C>A | CA378065228 | COL17A1 | c.3748G>T (p.Gly1250Ter) c.24G>T c.3994G>T (p.Gly1332Ter) | |
| 10 | g.104034107C= | CA1933418142 | COL17A1 | c.3748G= (p.Gly1250=) c.24G= c.3994G= (p.Gly1332=) | |
| 10 | g.104034107C>G | CA378065230 | COL17A1 | c.3748G>C (p.Gly1250Arg) c.24G>C c.3994G>C (p.Gly1332Arg) | |
| 10 | g.104034107C>T | CA378065231 | COL17A1 | c.3748G>A (p.Gly1250Arg) c.24G>A c.3994G>A (p.Gly1332Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034108T>A | CA471502799 | COL17A1 | c.3747A>T (p.Ala1249=) c.23A>T c.3993A>T (p.Ala1331=) | |
| 10 | g.104034108T>C | CA471502800 | COL17A1 | c.3747A>G (p.Ala1249=) c.23A>G c.3993A>G (p.Ala1331=) | |
| 10 | g.104034108T>G | CA471502801 | COL17A1 | c.3747A>C (p.Ala1249=) c.23A>C c.3993A>C (p.Ala1331=) | |
| 10 | g.104034109G>A | CA378065233 | COL17A1 | c.3746C>T (p.Ala1249Val) c.22C>T c.3992C>T (p.Ala1331Val) | |
| 10 | g.104034109G>C | CA378065234 | COL17A1 | c.3746C>G (p.Ala1249Gly) c.22C>G c.3992C>G (p.Ala1331Gly) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034109G= | CA1933418147 | COL17A1 | c.3746C= (p.Ala1249=) c.22C= c.3992C= (p.Ala1331=) | |
| 10 | g.104034109G>T | CA378065236 | COL17A1 | c.3746C>A (p.Ala1249Glu) c.22C>A c.3992C>A (p.Ala1331Glu) | |
| 10 | g.104034110C>A | CA378065241 | COL17A1 | c.3745G>T (p.Ala1249Ser) c.21G>T c.3991G>T (p.Ala1331Ser) | gnomAD v4 |
| 10 | g.104034110C= | CA1933418151 | COL17A1 | c.3745G= (p.Ala1249=) c.21G= c.3991G= (p.Ala1331=) | |
| 10 | g.104034110C>G | CA378065238 | COL17A1 | c.3745G>C (p.Ala1249Pro) c.21G>C c.3991G>C (p.Ala1331Pro) | |
| 10 | g.104034110C>T | CA378065239 | COL17A1 | c.3745G>A (p.Ala1249Thr) c.21G>A c.3991G>A (p.Ala1331Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034111A>C | CA471502806 | COL17A1 | c.3744T>G (p.Ala1248=) c.20T>G c.3990T>G (p.Ala1330=) | |
| 10 | g.104034111A>G | CA471502808 | COL17A1 | c.3744T>C (p.Ala1248=) c.20T>C c.3990T>C (p.Ala1330=) | |
| 10 | g.104034111A>T | CA471502809 | COL17A1 | c.3744T>A (p.Ala1248=) c.20T>A c.3990T>A (p.Ala1330=) | |
| 10 | g.104034112G>A | CA378065243 | COL17A1 | c.3743C>T (p.Ala1248Val) c.19C>T c.3989C>T (p.Ala1330Val) | |
| 10 | g.104034112G>C | CA378065244 | COL17A1 | c.3743C>G (p.Ala1248Gly) c.19C>G c.3989C>G (p.Ala1330Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034112G= | CA1933418154 | COL17A1 | c.3743C= (p.Ala1248=) c.19C= c.3989C= (p.Ala1330=) | |
| 10 | g.104034112G>T | CA378065246 | COL17A1 | c.3743C>A (p.Ala1248Asp) c.19C>A c.3989C>A (p.Ala1330Asp) | |
| 10 | g.104034113C>A | CA378065248 | COL17A1 | c.3742G>T (p.Ala1248Ser) c.18G>T c.3988G>T (p.Ala1330Ser) | |
| 10 | g.104034113C>G | CA378065249 | COL17A1 | c.3742G>C (p.Ala1248Pro) c.18G>C c.3988G>C (p.Ala1330Pro) | |
| 10 | g.104034113C>T | CA378065251 | COL17A1 | c.3742G>A (p.Ala1248Thr) c.18G>A c.3988G>A (p.Ala1330Thr) | |
| 10 | g.104034114T>A | CA378065252 | COL17A1 | c.3741A>T (p.Glu1247Asp) c.17A>T c.3987A>T (p.Glu1329Asp) | |
| 10 | g.104034114T>C | CA471502815 | COL17A1 | c.3741A>G (p.Glu1247=) c.17A>G c.3987A>G (p.Glu1329=) | |
| 10 | g.104034114T>G | CA378065253 | COL17A1 | c.3741A>C (p.Glu1247Asp) c.17A>C c.3987A>C (p.Glu1329Asp) | |
| 10 | g.104034115T>A | CA378065255 | COL17A1 | c.3740A>T (p.Glu1247Val) c.16A>T c.3986A>T (p.Glu1329Val) | |
| 10 | g.104034115T>C | CA378065257 | COL17A1 | c.3740A>G (p.Glu1247Gly) c.16A>G c.3986A>G (p.Glu1329Gly) | |
| 10 | g.104034115T>G | CA378065258 | COL17A1 | c.3740A>C (p.Glu1247Ala) c.16A>C c.3986A>C (p.Glu1329Ala) | dbSNP |
| 10 | g.104034116C>A | CA378065263 | COL17A1 | c.3739G>T (p.Glu1247Ter) c.15G>T c.3985G>T (p.Glu1329Ter) | |
| 10 | g.104034116C>G | CA378065261 | COL17A1 | c.3739G>C (p.Glu1247Gln) c.15G>C c.3985G>C (p.Glu1329Gln) | gnomAD v4 |