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.104034099_104034101delinsCCT | CA1933418119 | COL17A1 | c.3754_3756delinsAGG (p.Arg1252=) c.30_32delinsAGG c.4000_4002delinsAGG (p.Arg1334=) | |
| 10 | g.104034100_104034101del | CA659193854 | COL17A1 | c.3754_3755del (p.Arg1252GlyfsTer6) c.30_31del c.4000_4001del (p.Arg1334GlyfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034100_104034101delinsCT | CA1933418122 | COL17A1 | c.3754_3755delinsAG (p.Arg1252=) c.30_31delinsAG c.4000_4001delinsAG (p.Arg1334=) | |
| 10 | g.104034101del | CA5677743 | COL17A1 | c.3754del (p.Arg1252GlyfsTer?) c.30del c.4000del (p.Arg1334GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034101T>A | CA378065209 | COL17A1 | c.3754A>T (p.Arg1252Trp) c.30A>T c.4000A>T (p.Arg1334Trp) | |
| 10 | g.104034101T>C | CA5677744 | COL17A1 | c.3754A>G (p.Arg1252Gly) c.30A>G c.4000A>G (p.Arg1334Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034101T>G | CA471502786 | COL17A1 | c.3754A>C (p.Arg1252=) c.30A>C c.4000A>C (p.Arg1334=) | gnomAD v4 |
| 10 | g.104034101T= | CA1933418130 | COL17A1 | c.3754A= (p.Arg1252=) c.30A= c.4000A= (p.Arg1334=) | |
| 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 |
| 10 | g.104034116C>T | CA378065260 | COL17A1 | c.3739G>A (p.Glu1247Lys) c.15G>A c.3985G>A (p.Glu1329Lys) | |
| 10 | g.104034117A= | CA1933418156 | COL17A1 | c.3738T= (p.Gly1246=) c.14T= c.3984T= (p.Gly1328=) | |
| 10 | g.104034117A>C | CA471502822 | COL17A1 | c.3738T>G (p.Gly1246=) c.14T>G c.3984T>G (p.Gly1328=) | |
| 10 | g.104034117A>G | CA471502823 | COL17A1 | c.3738T>C (p.Gly1246=) c.14T>C c.3984T>C (p.Gly1328=) | dbSNP gnomAD v4 |
| 10 | g.104034117A>T | CA471502820 | COL17A1 | c.3738T>A (p.Gly1246=) c.14T>A c.3984T>A (p.Gly1328=) | |
| 10 | g.104034118C>A | CA378065264 | COL17A1 | c.3737G>T (p.Gly1246Val) c.13G>T c.3983G>T (p.Gly1328Val) | |
| 10 | g.104034118C>G | CA378065266 | COL17A1 | c.3737G>C (p.Gly1246Ala) c.13G>C c.3983G>C (p.Gly1328Ala) | |
| 10 | g.104034118C>T | CA378065267 | COL17A1 | c.3737G>A (p.Gly1246Asp) c.13G>A c.3983G>A (p.Gly1328Asp) | |
| 10 | g.104034119C>A | CA378065268 | COL17A1 | c.3736G>T (p.Gly1246Cys) c.12G>T c.3982G>T (p.Gly1328Cys) | |
| 10 | g.104034119C>G | CA378065269 | COL17A1 | c.3736G>C (p.Gly1246Arg) c.12G>C c.3982G>C (p.Gly1328Arg) | |
| 10 | g.104034119C>T | CA378065270 | COL17A1 | c.3736G>A (p.Gly1246Ser) c.12G>A c.3982G>A (p.Gly1328Ser) | gnomAD v4 |
| 10 | g.104034120A>C | CA378065274 | COL17A1 | c.3735T>G (p.Phe1245Leu) c.11T>G c.3981T>G (p.Phe1327Leu) | |
| 10 | g.104034120A>G | CA471502829 | COL17A1 | c.3735T>C (p.Phe1245=) c.11T>C c.3981T>C (p.Phe1327=) | |
| 10 | g.104034120A>T | CA378065273 | COL17A1 | c.3735T>A (p.Phe1245Leu) c.11T>A c.3981T>A (p.Phe1327Leu) | |
| 10 | g.104034121A>C | CA378065276 | COL17A1 | c.3734T>G (p.Phe1245Cys) c.10T>G c.3980T>G (p.Phe1327Cys) | |
| 10 | g.104034121A>G | CA378065277 | COL17A1 | c.3734T>C (p.Phe1245Ser) c.10T>C c.3980T>C (p.Phe1327Ser) | |
| 10 | g.104034121A>T | CA378065278 | COL17A1 | c.3734T>A (p.Phe1245Tyr) c.10T>A c.3980T>A (p.Phe1327Tyr) | |
| 10 | g.104034122A>C | CA378065279 | COL17A1 | c.3733T>G (p.Phe1245Val) c.9T>G c.3979T>G (p.Phe1327Val) | |
| 10 | g.104034122A>G | CA378065280 | COL17A1 | c.3733T>C (p.Phe1245Leu) c.9T>C c.3979T>C (p.Phe1327Leu) | |
| 10 | g.104034122A>T | CA378065281 | COL17A1 | c.3733T>A (p.Phe1245Ile) c.9T>A c.3979T>A (p.Phe1327Ile) | |
| 10 | g.104034123G>A | CA471502832 | COL17A1 | c.3732C>T (p.Ala1244=) c.8C>T c.3978C>T (p.Ala1326=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034123G>C | CA471502833 | COL17A1 | c.3732C>G (p.Ala1244=) c.8C>G c.3978C>G (p.Ala1326=) | |
| 10 | g.104034123G= | CA1933418162 | COL17A1 | c.3732C= (p.Ala1244=) c.8C= c.3978C= (p.Ala1326=) | |
| 10 | g.104034123G>T | CA471502834 | COL17A1 | c.3732C>A (p.Ala1244=) c.8C>A c.3978C>A (p.Ala1326=) | |
| 10 | g.104034123_104034132delinsGGCACCGCCT | CA1933418160 | COL17A1 | c.3723_3732delinsAGGCGGTGCC (p.Ala1241=) c.3969_3978delinsAGGCGGTGCC (p.Ala1323=) | |
| 10 | g.104034124G>A | CA378065284 | COL17A1 | c.3731C>T (p.Ala1244Val) c.7C>T c.3977C>T (p.Ala1326Val) | |
| 10 | g.104034124G>C | CA378065287 | COL17A1 | c.3731C>G (p.Ala1244Gly) c.7C>G c.3977C>G (p.Ala1326Gly) | |
| 10 | g.104034124G>T | CA378065285 | COL17A1 | c.3731C>A (p.Ala1244Asp) c.7C>A c.3977C>A (p.Ala1326Asp) | |
| 10 | g.104034129_104034137del | CA1933418166 | COL17A1 | c.3723_3731del (p.Gly1242_Ala1244del) c.3969_3977del (p.Gly1324_Ala1326del) | dbSNP |
| 10 | g.104034125C>A | CA378065288 | COL17A1 | c.3730G>T (p.Ala1244Ser) c.6G>T c.3976G>T (p.Ala1326Ser) | |
| 10 | g.104034125C>G | CA378065289 | COL17A1 | c.3730G>C (p.Ala1244Pro) c.6G>C c.3976G>C (p.Ala1326Pro) | |
| 10 | g.104034125C>T | CA378065291 | COL17A1 | c.3730G>A (p.Ala1244Thr) c.6G>A c.3976G>A (p.Ala1326Thr) | gnomAD v4 COSMIC |
| 10 | g.104034126A= | CA1933418170 | COL17A1 | c.3729T= (p.Gly1243=) c.5T= c.3975T= (p.Gly1325=) | |
| 10 | g.104034126A>C | CA471502840 | COL17A1 | c.3729T>G (p.Gly1243=) c.5T>G c.3975T>G (p.Gly1325=) | |
| 10 | g.104034126A>G | CA471502841 | COL17A1 | c.3729T>C (p.Gly1243=) c.5T>C c.3975T>C (p.Gly1325=) | dbSNP |
| 10 | g.104034126A>T | CA5677745 | COL17A1 | c.3729T>A (p.Gly1243=) c.5T>A c.3975T>A (p.Gly1325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034127C>A | CA378065293 | COL17A1 | c.3728G>T (p.Gly1243Val) c.4G>T c.3974G>T (p.Gly1325Val) | |
| 10 | g.104034127C>G | CA378065295 | COL17A1 | c.3728G>C (p.Gly1243Ala) c.4G>C c.3974G>C (p.Gly1325Ala) | |
| 10 | g.104034127C>T | CA378065296 | COL17A1 | c.3728G>A (p.Gly1243Asp) c.4G>A c.3974G>A (p.Gly1325Asp) | gnomAD v4 |
| 10 | g.104034128del | CA2695212673 | COL17A1 | c.3728del (p.Gly1243ValfsTer?) c.4del c.3974del (p.Gly1325ValfsTer?) | |
| 10 | g.104034128C>A | CA378065298 | COL17A1 | c.3727G>T (p.Gly1243Cys) c.3G>T c.3973G>T (p.Gly1325Cys) | |
| 10 | g.104034128C= | CA1933418174 | COL17A1 | c.3727G= (p.Gly1243=) c.3G= c.3973G= (p.Gly1325=) | |
| 10 | g.104034128C>G | CA378065299 | COL17A1 | c.3727G>C (p.Gly1243Arg) c.3G>C c.3973G>C (p.Gly1325Arg) | |
| 10 | g.104034128C>T | CA5677746 | COL17A1 | c.3727G>A (p.Gly1243Ser) c.3G>A c.3973G>A (p.Gly1325Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034128_104034143delinsCGCCTGCACCCAGGGA | CA1933418176 | COL17A1 | c.3712_3727delinsTCCCTGGGTGCAGGCG (p.Ser1238=) c.3958_3973delinsTCCCTGGGTGCAGGCG (p.Ser1320=) | |
| 10 | g.104034129G>A | CA471502846 | COL17A1 | c.3726C>T (p.Gly1242=) c.2C>T c.3972C>T (p.Gly1324=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034129G>C | CA471502847 | COL17A1 | c.3726C>G (p.Gly1242=) c.2C>G c.3972C>G (p.Gly1324=) | |
| 10 | g.104034129G= | CA1933418184 | COL17A1 | c.3726C= (p.Gly1242=) c.2C= c.3972C= (p.Gly1324=) | |
| 10 | g.104034129G>T | CA471502849 | COL17A1 | c.3726C>A (p.Gly1242=) c.2C>A c.3972C>A (p.Gly1324=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034138_104034152dup | CA659193939 | COL17A1 | c.3712_3726dup (p.Gly1242_Gly1243insSerLeuGlyAlaGly) c.3958_3972dup (p.Gly1324_Gly1325insSerLeuGlyAlaGly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034138_104034152del | CA596111103 | COL17A1 | c.3712_3726del (p.Ser1238_Gly1242del) c.3958_3972del (p.Ser1320_Gly1324del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034130C>A | CA378065302 | COL17A1 | c.3725G>T (p.Gly1242Val) c.1G>T c.3971G>T (p.Gly1324Val) | |
| 10 | g.104034130C= | CA1933418187 | COL17A1 | c.3725G= (p.Gly1242=) c.1G= c.3971G= (p.Gly1324=) | |
| 10 | g.104034130C>G | CA378065300 | COL17A1 | c.3725G>C (p.Gly1242Ala) c.1G>C c.3971G>C (p.Gly1324Ala) | |
| 10 | g.104034130C>T | CA212449995 | COL17A1 | c.3725G>A (p.Gly1242Asp) c.1G>A c.3971G>A (p.Gly1324Asp) | dbSNP gnomAD v4 |
| 10 | g.104034131C>A | CA378065304 | COL17A1 | c.3724G>T (p.Gly1242Cys) c.3970G>T (p.Gly1324Cys) | |
| 10 | g.104034131C>G | CA378065307 | COL17A1 | c.3724G>C (p.Gly1242Arg) c.3970G>C (p.Gly1324Arg) | |
| 10 | g.104034131C>T | CA378065305 | COL17A1 | c.3724G>A (p.Gly1242Ser) c.3970G>A (p.Gly1324Ser) | |
| 10 | g.104034132T>A | CA471502856 | COL17A1 | c.3723A>T (p.Ala1241=) c.3969A>T (p.Ala1323=) | |
| 10 | g.104034132T>C | CA471502858 | COL17A1 | c.3723A>G (p.Ala1241=) c.3969A>G (p.Ala1323=) | |
| 10 | g.104034132T>G | CA471502854 | COL17A1 | c.3723A>C (p.Ala1241=) c.3969A>C (p.Ala1323=) | |
| 10 | g.104034133G>A | CA5677747 | COL17A1 | c.3722C>T (p.Ala1241Val) c.3968C>T (p.Ala1323Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034133G>C | CA378065310 | COL17A1 | c.3722C>G (p.Ala1241Gly) c.3968C>G (p.Ala1323Gly) | dbSNP gnomAD v4 |
| 10 | g.104034133G= | CA1933418190 | COL17A1 | c.3722C= (p.Ala1241=) c.3968C= (p.Ala1323=) | |
| 10 | g.104034133G>T | CA378065308 | COL17A1 | c.3722C>A (p.Ala1241Glu) c.3968C>A (p.Ala1323Glu) | |
| 10 | g.104034134C>A | CA378065312 | COL17A1 | c.3721G>T (p.Ala1241Ser) c.3967G>T (p.Ala1323Ser) | |
| 10 | g.104034134C>G | CA378065314 | COL17A1 | c.3721G>C (p.Ala1241Pro) c.3967G>C (p.Ala1323Pro) | |
| 10 | g.104034134C>T | CA378065315 | COL17A1 | c.3721G>A (p.Ala1241Thr) c.3967G>A (p.Ala1323Thr) | |
| 10 | g.104034135A= | CA1933418193 | COL17A1 | c.3720T= (p.Gly1240=) c.3966T= (p.Gly1322=) | |
| 10 | g.104034135A>C | CA471502864 | COL17A1 | c.3720T>G (p.Gly1240=) c.3966T>G (p.Gly1322=) | |
| 10 | g.104034135A>G | CA5677748 | COL17A1 | c.3720T>C (p.Gly1240=) c.3966T>C (p.Gly1322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034135A>T | CA471502863 | COL17A1 | c.3720T>A (p.Gly1240=) c.3966T>A (p.Gly1322=) | |
| 10 | g.104034136C>A | CA378065317 | COL17A1 | c.3719G>T (p.Gly1240Val) c.3965G>T (p.Gly1322Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034136C= | CA1933418198 | COL17A1 | c.3719G= (p.Gly1240=) c.3965G= (p.Gly1322=) | |
| 10 | g.104034136C>G | CA378065319 | COL17A1 | c.3719G>C (p.Gly1240Ala) c.3965G>C (p.Gly1322Ala) | |
| 10 | g.104034136C>T | CA5677749 | COL17A1 | c.3719G>A (p.Gly1240Asp) c.3965G>A (p.Gly1322Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034137C>A | CA378065321 | COL17A1 | c.3718G>T (p.Gly1240Cys) c.3964G>T (p.Gly1322Cys) | |
| 10 | g.104034137C= | CA1933418201 | COL17A1 | c.3718G= (p.Gly1240=) c.3964G= (p.Gly1322=) | |
| 10 | g.104034137C>G | CA378065322 | COL17A1 | c.3718G>C (p.Gly1240Arg) c.3964G>C (p.Gly1322Arg) | |
| 10 | g.104034137C>T | CA5677750 | COL17A1 | c.3718G>A (p.Gly1240Ser) c.3964G>A (p.Gly1322Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034138C>A | CA471502873 | COL17A1 | c.3717G>T (p.Leu1239=) c.3963G>T (p.Leu1321=) | |
| 10 | g.104034138C= | CA1933418203 | COL17A1 | c.3717G= (p.Leu1239=) c.3963G= (p.Leu1321=) | |
| 10 | g.104034138C>G | CA471502872 | COL17A1 | c.3717G>C (p.Leu1239=) c.3963G>C (p.Leu1321=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034138C>T | CA471502870 | COL17A1 | c.3717G>A (p.Leu1239=) c.3963G>A (p.Leu1321=) | |
| 10 | g.104034139A>C | CA378065328 | COL17A1 | c.3716T>G (p.Leu1239Arg) c.3962T>G (p.Leu1321Arg) | |
| 10 | g.104034139A>G | CA378065327 | COL17A1 | c.3716T>C (p.Leu1239Pro) c.3962T>C (p.Leu1321Pro) | gnomAD v4 |
| 10 | g.104034139A>T | CA378065325 | COL17A1 | c.3716T>A (p.Leu1239Gln) c.3962T>A (p.Leu1321Gln) | |
| 10 | g.104034140G>A | CA471502878 | COL17A1 | c.3715C>T (p.Leu1239=) c.3961C>T (p.Leu1321=) | |
| 10 | g.104034140G>C | CA378065329 | COL17A1 | c.3715C>G (p.Leu1239Val) c.3961C>G (p.Leu1321Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034140G= | CA1933418205 | COL17A1 | c.3715C= (p.Leu1239=) c.3961C= (p.Leu1321=) | |
| 10 | g.104034140G>T | CA378065331 | COL17A1 | c.3715C>A (p.Leu1239Met) c.3961C>A (p.Leu1321Met) | |
| 10 | g.104034141G>A | CA471502879 | COL17A1 | c.3714C>T (p.Ser1238=) c.3960C>T (p.Ser1320=) | ClinVar gnomAD v4 |
| 10 | g.104034141G>C | CA471502880 | COL17A1 | c.3714C>G (p.Ser1238=) c.3960C>G (p.Ser1320=) | |
| 10 | g.104034141G>T | CA471502881 | COL17A1 | c.3714C>A (p.Ser1238=) c.3960C>A (p.Ser1320=) | |
| 10 | g.104034142G>A | CA5677751 | COL17A1 | c.3713C>T (p.Ser1238Phe) c.3959C>T (p.Ser1320Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034142G>C | CA378065333 | COL17A1 | c.3713C>G (p.Ser1238Cys) c.3959C>G (p.Ser1320Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034142G= | CA1933418207 | COL17A1 | c.3713C= (p.Ser1238=) c.3959C= (p.Ser1320=) | |
| 10 | g.104034142G>T | CA378065335 | COL17A1 | c.3713C>A (p.Ser1238Tyr) c.3959C>A (p.Ser1320Tyr) | |
| 10 | g.104034143A>C | CA378065336 | COL17A1 | c.3712T>G (p.Ser1238Ala) c.3958T>G (p.Ser1320Ala) | |
| 10 | g.104034143A>G | CA378065338 | COL17A1 | c.3712T>C (p.Ser1238Pro) c.3958T>C (p.Ser1320Pro) | COSMIC |
| 10 | g.104034143A>T | CA378065340 | COL17A1 | c.3712T>A (p.Ser1238Thr) c.3958T>A (p.Ser1320Thr) | |
| 10 | g.104034144G>A | CA471502891 | COL17A1 | c.3711C>T (p.Gly1237=) c.3957C>T (p.Gly1319=) | dbSNP |
| 10 | g.104034144G>C | CA471502892 | COL17A1 | c.3711C>G (p.Gly1237=) c.3957C>G (p.Gly1319=) | |
| 10 | g.104034144G= | CA1933418209 | COL17A1 | c.3711C= (p.Gly1237=) c.3957C= (p.Gly1319=) | |
| 10 | g.104034144G>T | CA471502893 | COL17A1 | c.3711C>A (p.Gly1237=) c.3957C>A (p.Gly1319=) | gnomAD v4 |
| 10 | g.104034145C>A | CA378065341 | COL17A1 | c.3710G>T (p.Gly1237Val) c.3956G>T (p.Gly1319Val) | |
| 10 | g.104034145C= | CA1933418212 | COL17A1 | c.3710G= (p.Gly1237=) c.3956G= (p.Gly1319=) | |
| 10 | g.104034145C>G | CA378065342 | COL17A1 | c.3710G>C (p.Gly1237Ala) c.3956G>C (p.Gly1319Ala) | |
| 10 | g.104034145C>T | CA378065343 | COL17A1 | c.3710G>A (p.Gly1237Asp) c.3956G>A (p.Gly1319Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034146C>A | CA378065346 | COL17A1 | c.3709G>T (p.Gly1237Cys) c.3955G>T (p.Gly1319Cys) | |
| 10 | g.104034146C= | CA1933418215 | COL17A1 | c.3709G= (p.Gly1237=) c.3955G= (p.Gly1319=) | |
| 10 | g.104034146C>G | CA378065347 | COL17A1 | c.3709G>C (p.Gly1237Arg) c.3955G>C (p.Gly1319Arg) | |
| 10 | g.104034146C>T | CA5677752 | COL17A1 | c.3709G>A (p.Gly1237Ser) c.3955G>A (p.Gly1319Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034147T>A | CA471502896 | COL17A1 | c.3708A>T (p.Ala1236=) c.3954A>T (p.Ala1318=) | |
| 10 | g.104034147T>C | CA471502897 | COL17A1 | c.3708A>G (p.Ala1236=) c.3954A>G (p.Ala1318=) | |
| 10 | g.104034147T>G | CA471502900 | COL17A1 | c.3708A>C (p.Ala1236=) c.3954A>C (p.Ala1318=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034147T= | CA1933418220 | COL17A1 | c.3708A= (p.Ala1236=) c.3954A= (p.Ala1318=) | |
| 10 | g.104034148G>A | CA378065349 | COL17A1 | c.3707C>T (p.Ala1236Val) c.3953C>T (p.Ala1318Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034148G>C | CA378065350 | COL17A1 | c.3707C>G (p.Ala1236Gly) c.3953C>G (p.Ala1318Gly) | |
| 10 | g.104034148G= | CA1933418222 | COL17A1 | c.3707C= (p.Ala1236=) c.3953C= (p.Ala1318=) | |
| 10 | g.104034148G>T | CA378065352 | COL17A1 | c.3707C>A (p.Ala1236Glu) c.3953C>A (p.Ala1318Glu) | |
| 10 | g.104034149C>A | CA378065353 | COL17A1 | c.3706G>T (p.Ala1236Ser) c.3952G>T (p.Ala1318Ser) | |
| 10 | g.104034149C= | CA1933418225 | COL17A1 | c.3706G= (p.Ala1236=) c.3952G= (p.Ala1318=) | |
| 10 | g.104034149C>G | CA378065354 | COL17A1 | c.3706G>C (p.Ala1236Pro) c.3952G>C (p.Ala1318Pro) | |
| 10 | g.104034149C>T | CA378065356 | COL17A1 | c.3706G>A (p.Ala1236Thr) c.3952G>A (p.Ala1318Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034150A= | CA1933418229 | COL17A1 | c.3705T= (p.Gly1235=) c.3951T= (p.Gly1317=) | |
| 10 | g.104034150A>C | CA471502903 | COL17A1 | c.3705T>G (p.Gly1235=) c.3951T>G (p.Gly1317=) | gnomAD v4 |
| 10 | g.104034150A>G | CA471502904 | COL17A1 | c.3705T>C (p.Gly1235=) c.3951T>C (p.Gly1317=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034150A>T | CA5677753 | COL17A1 | c.3705T>A (p.Gly1235=) c.3951T>A (p.Gly1317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034151C>A | CA378065358 | COL17A1 | c.3704G>T (p.Gly1235Val) c.3950G>T (p.Gly1317Val) | dbSNP |
| 10 | g.104034151C= | CA1933418232 | COL17A1 | c.3704G= (p.Gly1235=) c.3950G= (p.Gly1317=) | |
| 10 | g.104034151C>G | CA378065361 | COL17A1 | c.3704G>C (p.Gly1235Ala) c.3950G>C (p.Gly1317Ala) | gnomAD v4 |
| 10 | g.104034151C>T | CA378065360 | COL17A1 | c.3704G>A (p.Gly1235Asp) c.3950G>A (p.Gly1317Asp) | gnomAD v4 |
| 10 | g.104034152C>A | CA378065362 | COL17A1 | c.3703G>T (p.Gly1235Cys) c.3949G>T (p.Gly1317Cys) | |
| 10 | g.104034152C>G | CA378065364 | COL17A1 | c.3703G>C (p.Gly1235Arg) c.3949G>C (p.Gly1317Arg) | |
| 10 | g.104034152C>T | CA378065366 | COL17A1 | c.3703G>A (p.Gly1235Ser) c.3949G>A (p.Gly1317Ser) | |
| 10 | g.104034153A= | CA1933418237 | COL17A1 | c.3702T= (p.Gly1234=) c.3948T= (p.Gly1316=) | |
| 10 | g.104034153A>C | CA5677755 | COL17A1 | c.3702T>G (p.Gly1234=) c.3948T>G (p.Gly1316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034153A>G | CA471502908 | COL17A1 | c.3702T>C (p.Gly1234=) c.3948T>C (p.Gly1316=) | |
| 10 | g.104034153A>T | CA471502909 | COL17A1 | c.3702T>A (p.Gly1234=) c.3948T>A (p.Gly1316=) | |
| 10 | g.104034153_104034156delinsACCT | CA1933418236 | COL17A1 | c.3699_3702delinsAGGT (p.Gly1233=) c.3945_3948delinsAGGT (p.Gly1315=) | |
| 10 | g.104034154C>A | CA378065368 | COL17A1 | c.3701G>T (p.Gly1234Val) c.3947G>T (p.Gly1316Val) | dbSNP |
| 10 | g.104034154C= | CA1933418242 | COL17A1 | c.3701G= (p.Gly1234=) c.3947G= (p.Gly1316=) | |
| 10 | g.104034154C>G | CA378065371 | COL17A1 | c.3701G>C (p.Gly1234Ala) c.3947G>C (p.Gly1316Ala) | |
| 10 | g.104034154C>T | CA212450036 | COL17A1 | c.3701G>A (p.Gly1234Asp) c.3947G>A (p.Gly1316Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034160_104034162del | CA5677754 | COL17A1 | c.3699_3701del (p.Gly1234del) c.3945_3947del (p.Gly1316del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034155C>A | CA378065372 | COL17A1 | c.3700G>T (p.Gly1234Cys) c.3946G>T (p.Gly1316Cys) | |
| 10 | g.104034155C= | CA1933418247 | COL17A1 | c.3700G= (p.Gly1234=) c.3946G= (p.Gly1316=) | |
| 10 | g.104034155C>G | CA378065374 | COL17A1 | c.3700G>C (p.Gly1234Arg) c.3946G>C (p.Gly1316Arg) | |
| 10 | g.104034155C>T | CA5677756 | COL17A1 | c.3700G>A (p.Gly1234Ser) c.3946G>A (p.Gly1316Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034156T>A | CA5677757 | COL17A1 | c.3699A>T (p.Gly1233=) c.3945A>T (p.Gly1315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034156T>C | CA471502912 | COL17A1 | c.3699A>G (p.Gly1233=) c.3945A>G (p.Gly1315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034156T>G | CA471502913 | COL17A1 | c.3699A>C (p.Gly1233=) c.3945A>C (p.Gly1315=) | |
| 10 | g.104034156T= | CA1933418252 | COL17A1 | c.3699A= (p.Gly1233=) c.3945A= (p.Gly1315=) | |
| 10 | g.104034157C>A | CA378065377 | COL17A1 | c.3698G>T (p.Gly1233Val) c.3944G>T (p.Gly1315Val) | |
| 10 | g.104034157C>G | CA378065378 | COL17A1 | c.3698G>C (p.Gly1233Ala) c.3944G>C (p.Gly1315Ala) | |
| 10 | g.104034157C>T | CA378065380 | COL17A1 | c.3698G>A (p.Gly1233Glu) c.3944G>A (p.Gly1315Glu) | |
| 10 | g.104034158C>A | CA378065382 | COL17A1 | c.3697G>T (p.Gly1233Ter) c.3943G>T (p.Gly1315Ter) | |
| 10 | g.104034158C= | CA1933418256 | COL17A1 | c.3697G= (p.Gly1233=) c.3943G= (p.Gly1315=) | |
| 10 | g.104034158C>G | CA378065383 | COL17A1 | c.3697G>C (p.Gly1233Arg) c.3943G>C (p.Gly1315Arg) | |
| 10 | g.104034158C>T | CA5677758 | COL17A1 | c.3697G>A (p.Gly1233Arg) c.3943G>A (p.Gly1315Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034159T>A | CA471502919 | COL17A1 | c.3696A>T (p.Gly1232=) c.3942A>T (p.Gly1314=) | |
| 10 | g.104034159T>C | CA471502917 | COL17A1 | c.3696A>G (p.Gly1232=) c.3942A>G (p.Gly1314=) | |
| 10 | g.104034159T>G | CA471502916 | COL17A1 | c.3696A>C (p.Gly1232=) c.3942A>C (p.Gly1314=) | |
| 10 | g.104034160C>A | CA378065388 | COL17A1 | c.3695G>T (p.Gly1232Val) c.3941G>T (p.Gly1314Val) | |
| 10 | g.104034160C= | CA1933418257 | COL17A1 | c.3695G= (p.Gly1232=) c.3941G= (p.Gly1314=) | |
| 10 | g.104034160C>G | CA378065387 | COL17A1 | c.3695G>C (p.Gly1232Ala) c.3941G>C (p.Gly1314Ala) | dbSNP |
| 10 | g.104034160C>T | CA378065386 | COL17A1 | c.3695G>A (p.Gly1232Glu) c.3941G>A (p.Gly1314Glu) | gnomAD v4 |
| 10 | g.104034161C>A | CA378065390 | COL17A1 | c.3694G>T (p.Gly1232Ter) c.3940G>T (p.Gly1314Ter) | |
| 10 | g.104034161C= | CA1933418259 | COL17A1 | c.3694G= (p.Gly1232=) c.3940G= (p.Gly1314=) | |
| 10 | g.104034161C>G | CA378065393 | COL17A1 | c.3694G>C (p.Gly1232Arg) c.3940G>C (p.Gly1314Arg) | |
| 10 | g.104034161C>T | CA378065392 | COL17A1 | c.3694G>A (p.Gly1232Arg) c.3940G>A (p.Gly1314Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034162T>A | CA471502927 | COL17A1 | c.3693A>T (p.Thr1231=) c.3939A>T (p.Thr1313=) | |
| 10 | g.104034162T>C | CA471502926 | COL17A1 | c.3693A>G (p.Thr1231=) c.3939A>G (p.Thr1313=) | |
| 10 | g.104034162T>G | CA471502924 | COL17A1 | c.3693A>C (p.Thr1231=) c.3939A>C (p.Thr1313=) | |
| 10 | g.104034163G>A | CA378065395 | COL17A1 | c.3692C>T (p.Thr1231Ile) c.3938C>T (p.Thr1313Ile) | |
| 10 | g.104034163G>C | CA5677759 | COL17A1 | c.3692C>G (p.Thr1231Arg) c.3938C>G (p.Thr1313Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034163G= | CA1933418262 | COL17A1 | c.3692C= (p.Thr1231=) c.3938C= (p.Thr1313=) | |
| 10 | g.104034163G>T | CA378065397 | COL17A1 | c.3692C>A (p.Thr1231Lys) c.3938C>A (p.Thr1313Lys) | |
| 10 | g.104034164T>A | CA5677760 | COL17A1 | c.3691A>T (p.Thr1231Ser) c.3937A>T (p.Thr1313Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034164T>C | CA378065399 | COL17A1 | c.3691A>G (p.Thr1231Ala) c.3937A>G (p.Thr1313Ala) | |
| 10 | g.104034164T>G | CA378065401 | COL17A1 | c.3691A>C (p.Thr1231Pro) c.3937A>C (p.Thr1313Pro) | |
| 10 | g.104034164T= | CA1933418266 | COL17A1 | c.3691A= (p.Thr1231=) c.3937A= (p.Thr1313=) | |
| 10 | g.104034165G>A | CA471502932 | COL17A1 | c.3690C>T (p.Ser1230=) c.3936C>T (p.Ser1312=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034165G>C | CA378065402 | COL17A1 | c.3690C>G (p.Ser1230Arg) c.3936C>G (p.Ser1312Arg) | |
| 10 | g.104034165G= | CA1933418270 | COL17A1 | c.3690C= (p.Ser1230=) c.3936C= (p.Ser1312=) | |
| 10 | g.104034165G>T | CA378065403 | COL17A1 | c.3690C>A (p.Ser1230Arg) c.3936C>A (p.Ser1312Arg) | |
| 10 | g.104034166C>A | CA378065405 | COL17A1 | c.3689G>T (p.Ser1230Ile) c.3935G>T (p.Ser1312Ile) | |
| 10 | g.104034166C>G | CA378065407 | COL17A1 | c.3689G>C (p.Ser1230Thr) c.3935G>C (p.Ser1312Thr) | |
| 10 | g.104034166C>T | CA378065408 | COL17A1 | c.3689G>A (p.Ser1230Asn) c.3935G>A (p.Ser1312Asn) | |
| 10 | g.104034167T>A | CA378065413 | COL17A1 | c.3688A>T (p.Ser1230Cys) c.3934A>T (p.Ser1312Cys) | |
| 10 | g.104034167T>C | CA378065412 | COL17A1 | c.3688A>G (p.Ser1230Gly) c.3934A>G (p.Ser1312Gly) | gnomAD v4 |
| 10 | g.104034167T>G | CA378065410 | COL17A1 | c.3688A>C (p.Ser1230Arg) c.3934A>C (p.Ser1312Arg) | |
| 10 | g.104034168C>A | CA378065415 | COL17A1 | c.3687G>T (p.Met1229Ile) c.3933G>T (p.Met1311Ile) | |
| 10 | g.104034168C>G | CA378065416 | COL17A1 | c.3687G>C (p.Met1229Ile) c.3933G>C (p.Met1311Ile) | |
| 10 | g.104034168C>T | CA378065417 | COL17A1 | c.3687G>A (p.Met1229Ile) c.3933G>A (p.Met1311Ile) | gnomAD v4 |
| 10 | g.104034169A>C | CA378065419 | COL17A1 | c.3686T>G (p.Met1229Arg) c.3932T>G (p.Met1311Arg) | |
| 10 | g.104034169A>G | CA378065420 | COL17A1 | c.3686T>C (p.Met1229Thr) c.3932T>C (p.Met1311Thr) | gnomAD v4 |
| 10 | g.104034169A>T | CA378065422 | COL17A1 | c.3686T>A (p.Met1229Lys) c.3932T>A (p.Met1311Lys) | |
| 10 | g.104034170T>A | CA378065423 | COL17A1 | c.3685A>T (p.Met1229Leu) c.3931A>T (p.Met1311Leu) | |
| 10 | g.104034170T>C | CA5677761 | COL17A1 | c.3685A>G (p.Met1229Val) c.3931A>G (p.Met1311Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034170T>G | CA378065424 | COL17A1 | c.3685A>C (p.Met1229Leu) c.3931A>C (p.Met1311Leu) | |
| 10 | g.104034170T= | CA1933418272 | COL17A1 | c.3685A= (p.Met1229=) c.3931A= (p.Met1311=) | |
| 10 | g.104034171G>A | CA471502944 | COL17A1 | c.3684C>T (p.Ser1228=) c.3930C>T (p.Ser1310=) | |
| 10 | g.104034171G>C | CA471502947 | COL17A1 | c.3684C>G (p.Ser1228=) c.3930C>G (p.Ser1310=) | |
| 10 | g.104034171G>T | CA471502948 | COL17A1 | c.3684C>A (p.Ser1228=) c.3930C>A (p.Ser1310=) | |
| 10 | g.104034172G>A | CA5677762 | COL17A1 | c.3683C>T (p.Ser1228Phe) c.3929C>T (p.Ser1310Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034172G>C | CA378065426 | COL17A1 | c.3683C>G (p.Ser1228Cys) c.3929C>G (p.Ser1310Cys) | |
| 10 | g.104034172G= | CA1933418277 | COL17A1 | c.3683C= (p.Ser1228=) c.3929C= (p.Ser1310=) | |
| 10 | g.104034172G>T | CA378065428 | COL17A1 | c.3683C>A (p.Ser1228Tyr) c.3929C>A (p.Ser1310Tyr) | gnomAD v4 |
| 10 | g.104034173A>C | CA378065432 | COL17A1 | c.3682T>G (p.Ser1228Ala) c.3928T>G (p.Ser1310Ala) | |
| 10 | g.104034173A>G | CA378065431 | COL17A1 | c.3682T>C (p.Ser1228Pro) c.3928T>C (p.Ser1310Pro) | |
| 10 | g.104034173A>T | CA378065429 | COL17A1 | c.3682T>A (p.Ser1228Thr) c.3928T>A (p.Ser1310Thr) | |
| 10 | g.104034174A>C | CA471502952 | COL17A1 | c.3681T>G (p.Ser1227=) c.3927T>G (p.Ser1309=) | gnomAD v4 |
| 10 | g.104034174A>G | CA471502954 | COL17A1 | c.3681T>C (p.Ser1227=) c.3927T>C (p.Ser1309=) | |
| 10 | g.104034174A>T | CA471502955 | COL17A1 | c.3681T>A (p.Ser1227=) c.3927T>A (p.Ser1309=) | |
| 10 | g.104034175G>A | CA378065434 | COL17A1 | c.3680C>T (p.Ser1227Phe) c.3926C>T (p.Ser1309Phe) | |
| 10 | g.104034175G>C | CA378065435 | COL17A1 | c.3680C>G (p.Ser1227Cys) c.3926C>G (p.Ser1309Cys) | |
| 10 | g.104034175G>T | CA378065436 | COL17A1 | c.3680C>A (p.Ser1227Tyr) c.3926C>A (p.Ser1309Tyr) | |
| 10 | g.104034176A>C | CA378065438 | COL17A1 | c.3679T>G (p.Ser1227Ala) c.3925T>G (p.Ser1309Ala) | |
| 10 | g.104034176A>G | CA378065440 | COL17A1 | c.3679T>C (p.Ser1227Pro) c.3925T>C (p.Ser1309Pro) | gnomAD v4 |
| 10 | g.104034176A>T | CA378065441 | COL17A1 | c.3679T>A (p.Ser1227Thr) c.3925T>A (p.Ser1309Thr) | |
| 10 | g.104034177G>A | CA471502959 | COL17A1 | c.3678C>T (p.Ser1226=) c.3924C>T (p.Ser1308=) | |
| 10 | g.104034177G>C | CA5677763 | COL17A1 | c.3678C>G (p.Ser1226Arg) c.3924C>G (p.Ser1308Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034177G= | CA1933418281 | COL17A1 | c.3678C= (p.Ser1226=) c.3924C= (p.Ser1308=) | |
| 10 | g.104034177G>T | CA378065443 | COL17A1 | c.3678C>A (p.Ser1226Arg) c.3924C>A (p.Ser1308Arg) | |
| 10 | g.104034178C>A | CA378065445 | COL17A1 | c.3677G>T (p.Ser1226Ile) c.3923G>T (p.Ser1308Ile) | |
| 10 | g.104034178C= | CA1933418285 | COL17A1 | c.3677G= (p.Ser1226=) c.3923G= (p.Ser1308=) | |
| 10 | g.104034178C>G | CA378065446 | COL17A1 | c.3677G>C (p.Ser1226Thr) c.3923G>C (p.Ser1308Thr) | |
| 10 | g.104034178C>T | CA378065448 | COL17A1 | c.3677G>A (p.Ser1226Asn) c.3923G>A (p.Ser1308Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034178_104034179delinsCT | CA1933418284 | COL17A1 | c.3676_3677delinsAG (p.Ser1226=) c.3922_3923delinsAG (p.Ser1308=) | |
| 10 | g.104034179del | CA16618927 | COL17A1 | c.3676del (p.Ser1226AlafsTer4) c.3922del (p.Ser1308AlafsTer4) | ClinVar dbSNP |
| 10 | g.104034179T>A | CA378065450 | COL17A1 | c.3676A>T (p.Ser1226Cys) c.3922A>T (p.Ser1308Cys) | |
| 10 | g.104034179T>C | CA378065451 | COL17A1 | c.3676A>G (p.Ser1226Gly) c.3922A>G (p.Ser1308Gly) | |
| 10 | g.104034179T>G | CA378065453 | COL17A1 | c.3676A>C (p.Ser1226Arg) c.3922A>C (p.Ser1308Arg) | |
| 10 | g.104034180G>A | CA471502965 | COL17A1 | c.3675C>T (p.Tyr1225=) c.3921C>T (p.Tyr1307=) | ClinVar dbSNP |
| 10 | g.104034180G>C | CA378065454 | COL17A1 | c.3675C>G (p.Tyr1225Ter) c.3921C>G (p.Tyr1307Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034180G= | CA1933418294 | COL17A1 | c.3675C= (p.Tyr1225=) c.3921C= (p.Tyr1307=) | |
| 10 | g.104034180G>T | CA378065456 | COL17A1 | c.3675C>A (p.Tyr1225Ter) c.3921C>A (p.Tyr1307Ter) | |
| 10 | g.104034181T>A | CA378065458 | COL17A1 | c.3674A>T (p.Tyr1225Phe) c.3920A>T (p.Tyr1307Phe) | |
| 10 | g.104034181T>C | CA5677764 | COL17A1 | c.3674A>G (p.Tyr1225Cys) c.3920A>G (p.Tyr1307Cys) | dbSNP ExAC gnomAD v2 |
| 10 | g.104034181T>G | CA378065459 | COL17A1 | c.3674A>C (p.Tyr1225Ser) c.3920A>C (p.Tyr1307Ser) | |
| 10 | g.104034181T= | CA1933418297 | COL17A1 | c.3674A= (p.Tyr1225=) c.3920A= (p.Tyr1307=) | |
| 10 | g.104034182A= | CA1933418300 | COL17A1 | c.3673T= (p.Tyr1225=) c.3919T= (p.Tyr1307=) | |
| 10 | g.104034182A>C | CA378065461 | COL17A1 | c.3673T>G (p.Tyr1225Asp) c.3919T>G (p.Tyr1307Asp) | |
| 10 | g.104034182A>G | CA212450095 | COL17A1 | c.3673T>C (p.Tyr1225His) c.3919T>C (p.Tyr1307His) | dbSNP gnomAD v4 |
| 10 | g.104034182A>T | CA378065463 | COL17A1 | c.3673T>A (p.Tyr1225Asn) c.3919T>A (p.Tyr1307Asn) | |
| 10 | g.104034183G>A | CA471502970 | COL17A1 | c.3672C>T (p.Ser1224=) c.3918C>T (p.Ser1306=) | |
| 10 | g.104034183G>C | CA471502971 | COL17A1 | c.3672C>G (p.Ser1224=) c.3918C>G (p.Ser1306=) | |
| 10 | g.104034183G>T | CA471502972 | COL17A1 | c.3672C>A (p.Ser1224=) c.3918C>A (p.Ser1306=) | |
| 10 | g.104034184G>A | CA378065464 | COL17A1 | c.3671C>T (p.Ser1224Phe) c.3917C>T (p.Ser1306Phe) | |
| 10 | g.104034184G>C | CA378065466 | COL17A1 | c.3671C>G (p.Ser1224Cys) c.3917C>G (p.Ser1306Cys) | |
| 10 | g.104034184G>T | CA378065467 | COL17A1 | c.3671C>A (p.Ser1224Tyr) c.3917C>A (p.Ser1306Tyr) | |
| 10 | g.104034185A= | CA1933418307 | COL17A1 | c.3670T= (p.Ser1224=) c.3916T= (p.Ser1306=) | |
| 10 | g.104034185A>C | CA378065469 | COL17A1 | c.3670T>G (p.Ser1224Ala) c.3916T>G (p.Ser1306Ala) | |
| 10 | g.104034185A>G | CA212450101 | COL17A1 | c.3670T>C (p.Ser1224Pro) c.3916T>C (p.Ser1306Pro) | dbSNP gnomAD v4 |
| 10 | g.104034185A>T | CA378065471 | COL17A1 | c.3670T>A (p.Ser1224Thr) c.3916T>A (p.Ser1306Thr) | |
| 10 | g.104034186G>A | CA471502981 | COL17A1 | c.3669C>T (p.Ser1223=) c.3915C>T (p.Ser1305=) | ClinVar |
| 10 | g.104034186G>C | CA378065473 | COL17A1 | c.3669C>G (p.Ser1223Arg) c.3915C>G (p.Ser1305Arg) | |
| 10 | g.104034186G>T | CA378065472 | COL17A1 | c.3669C>A (p.Ser1223Arg) c.3915C>A (p.Ser1305Arg) | |
| 10 | g.104034187C>A | CA378065475 | COL17A1 | c.3668G>T (p.Ser1223Ile) c.3914G>T (p.Ser1305Ile) | |
| 10 | g.104034187C= | CA1933418311 | COL17A1 | c.3668G= (p.Ser1223=) c.3914G= (p.Ser1305=) | |
| 10 | g.104034187C>G | CA378065478 | COL17A1 | c.3668G>C (p.Ser1223Thr) c.3914G>C (p.Ser1305Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034187C>T | CA378065476 | COL17A1 | c.3668G>A (p.Ser1223Asn) c.3914G>A (p.Ser1305Asn) | gnomAD v4 |
| 10 | g.104034188T>A | CA378065479 | COL17A1 | c.3667A>T (p.Ser1223Cys) c.3913A>T (p.Ser1305Cys) | |
| 10 | g.104034188T>C | CA378065482 | COL17A1 | c.3667A>G (p.Ser1223Gly) c.3913A>G (p.Ser1305Gly) | |
| 10 | g.104034188T>G | CA378065481 | COL17A1 | c.3667A>C (p.Ser1223Arg) c.3913A>C (p.Ser1305Arg) | |
| 10 | g.104034189G>A | CA471502984 | COL17A1 | c.3666C>T (p.Gly1222=) c.3912C>T (p.Gly1304=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034189G>C | CA471502985 | COL17A1 | c.3666C>G (p.Gly1222=) c.3912C>G (p.Gly1304=) | |
| 10 | g.104034189G= | CA1933418314 | COL17A1 | c.3666C= (p.Gly1222=) c.3912C= (p.Gly1304=) | |
| 10 | g.104034189G>T | CA471502986 | COL17A1 | c.3666C>A (p.Gly1222=) c.3912C>A (p.Gly1304=) | ClinVar gnomAD v4 |
| 10 | g.104034190C>A | CA378065484 | COL17A1 | c.3665G>T (p.Gly1222Val) c.3911G>T (p.Gly1304Val) | dbSNP |
| 10 | g.104034190C= | CA1933418321 | COL17A1 | c.3665G= (p.Gly1222=) c.3911G= (p.Gly1304=) | |
| 10 | g.104034190C>G | CA378065488 | COL17A1 | c.3665G>C (p.Gly1222Ala) c.3911G>C (p.Gly1304Ala) | |
| 10 | g.104034190C>T | CA378065486 | COL17A1 | c.3665G>A (p.Gly1222Asp) c.3911G>A (p.Gly1304Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034191C>A | CA378065489 | COL17A1 | c.3664G>T (p.Gly1222Cys) c.3910G>T (p.Gly1304Cys) | gnomAD v4 |
| 10 | g.104034191C>G | CA378065491 | COL17A1 | c.3664G>C (p.Gly1222Arg) c.3910G>C (p.Gly1304Arg) | gnomAD v4 |
| 10 | g.104034191C>T | CA378065493 | COL17A1 | c.3664G>A (p.Gly1222Ser) c.3910G>A (p.Gly1304Ser) | |
| 10 | g.104034192C>A | CA471502995 | COL17A1 | c.3663G>T (p.Arg1221=) c.3909G>T (p.Arg1303=) | |
| 10 | g.104034192C= | CA1933418324 | COL17A1 | c.3663G= (p.Arg1221=) c.3909G= (p.Arg1303=) | |
| 10 | g.104034192C>G | CA471502992 | COL17A1 | c.3663G>C (p.Arg1221=) c.3909G>C (p.Arg1303=) | |
| 10 | g.104034192C>T | CA471502994 | COL17A1 | c.3663G>A (p.Arg1221=) c.3909G>A (p.Arg1303=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034193C>A | CA378065494 | COL17A1 | c.3662G>T (p.Arg1221Leu) c.3908G>T (p.Arg1303Leu) | |
| 10 | g.104034193C= | CA1933418331 | COL17A1 | c.3662G= (p.Arg1221=) c.3908G= (p.Arg1303=) | |
| 10 | g.104034193C>G | CA378065495 | COL17A1 | c.3662G>C (p.Arg1221Pro) c.3908G>C (p.Arg1303Pro) | |
| 10 | g.104034193C>T | CA127324 | COL17A1 | c.3662G>A (p.Arg1221Gln) c.3908G>A (p.Arg1303Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034194G>A | CA5677765 | COL17A1 | c.3661C>T (p.Arg1221Trp) c.3907C>T (p.Arg1303Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104034194G>C | CA378065499 | COL17A1 | c.3661C>G (p.Arg1221Gly) c.3907C>G (p.Arg1303Gly) | |
| 10 | g.104034194G= | CA1933418334 | COL17A1 | c.3661C= (p.Arg1221=) c.3907C= (p.Arg1303=) | |
| 10 | g.104034194G>T | CA471503000 | COL17A1 | c.3661C>A (p.Arg1221=) c.3907C>A (p.Arg1303=) | ClinVar gnomAD v4 |
| 10 | g.104034195C>A | CA378065500 | COL17A1 | c.3660G>T (p.Arg1220Ser) c.3906G>T (p.Arg1302Ser) | gnomAD v4 |
| 10 | g.104034195C>G | CA378065501 | COL17A1 | c.3660G>C (p.Arg1220Ser) c.3906G>C (p.Arg1302Ser) | |
| 10 | g.104034195C>T | CA471503003 | COL17A1 | c.3660G>A (p.Arg1220=) c.3906G>A (p.Arg1302=) | |
| 10 | g.104034196C>A | CA378065503 | COL17A1 | c.3659G>T (p.Arg1220Met) c.3905G>T (p.Arg1302Met) | gnomAD v4 |
| 10 | g.104034196C= | CA1933418338 | COL17A1 | c.3659G= (p.Arg1220=) c.3905G= (p.Arg1302=) | |
| 10 | g.104034196C>G | CA378065504 | COL17A1 | c.3659G>C (p.Arg1220Thr) c.3905G>C (p.Arg1302Thr) | gnomAD v4 |
| 10 | g.104034196C>T | CA378065506 | COL17A1 | c.3659G>A (p.Arg1220Lys) c.3905G>A (p.Arg1302Lys) | dbSNP gnomAD v4 |
| 10 | g.104034197T>A | CA378065508 | COL17A1 | c.3658A>T (p.Arg1220Trp) c.3904A>T (p.Arg1302Trp) | |
| 10 | g.104034197T>C | CA378065509 | COL17A1 | c.3658A>G (p.Arg1220Gly) c.3904A>G (p.Arg1302Gly) | |
| 10 | g.104034197T>G | CA471503008 | COL17A1 | c.3658A>C (p.Arg1220=) c.3904A>C (p.Arg1302=) | |
| 10 | g.104034198G>A | CA471503009 | COL17A1 | c.3657C>T (p.Val1219=) c.3903C>T (p.Val1301=) | |
| 10 | g.104034198G>C | CA471503010 | COL17A1 | c.3657C>G (p.Val1219=) c.3903C>G (p.Val1301=) | |
| 10 | g.104034198G>T | CA471503011 | COL17A1 | c.3657C>A (p.Val1219=) c.3903C>A (p.Val1301=) | gnomAD v4 |
| 10 | g.104034199A= | CA1933418343 | COL17A1 | c.3656T= (p.Val1219=) c.3902T= (p.Val1301=) | |
| 10 | g.104034199A>C | CA378065511 | COL17A1 | c.3656T>G (p.Val1219Gly) c.3902T>G (p.Val1301Gly) | |
| 10 | g.104034199A>G | CA378065514 | COL17A1 | c.3656T>C (p.Val1219Ala) c.3902T>C (p.Val1301Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034199A>T | CA378065513 | COL17A1 | c.3656T>A (p.Val1219Asp) c.3902T>A (p.Val1301Asp) | |
| 10 | g.104034200C>A | CA378065516 | COL17A1 | c.3655G>T (p.Val1219Phe) c.3901G>T (p.Val1301Phe) | |
| 10 | g.104034200C>G | CA378065517 | COL17A1 | c.3655G>C (p.Val1219Leu) c.3901G>C (p.Val1301Leu) | |
| 10 | g.104034200C>T | CA378065518 | COL17A1 | c.3655G>A (p.Val1219Ile) c.3901G>A (p.Val1301Ile) | gnomAD v4 |
| 10 | g.104034200_104034204delinsCAGAT | CA1933418346 | COL17A1 | c.3651_3655delinsATCTG (p.Ser1217=) c.3897_3901delinsATCTG (p.Ser1299=) | |
| 10 | g.104034201A= | CA1933418348 | COL17A1 | c.3654T= (p.Ser1218=) c.3900T= (p.Ser1300=) | |
| 10 | g.104034201A>C | CA471503013 | COL17A1 | c.3654T>G (p.Ser1218=) c.3900T>G (p.Ser1300=) | |
| 10 | g.104034201A>G | CA471503014 | COL17A1 | c.3654T>C (p.Ser1218=) c.3900T>C (p.Ser1300=) | |
| 10 | g.104034201A>T | CA471503015 | COL17A1 | c.3654T>A (p.Ser1218=) c.3900T>A (p.Ser1300=) | |
| 10 | g.104034202_104034203del | CA2573145528 | COL17A1 | c.3653_3654del (p.Ser1218CysfsTer29) c.3899_3900del (p.Ser1300CysfsTer29) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104034201_104034204del | CA596111107 | COL17A1 | c.3651_3654del (p.Val1219GlyfsTer10) c.3897_3900del (p.Val1301GlyfsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |