| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104033966T>A | CA378064903 | COL17A1 | c.3889A>T (p.Arg1297Trp) c.165A>T c.4135A>T (p.Arg1379Trp) | |
| 10 | g.104033966T>C | CA378064904 | COL17A1 | c.3889A>G (p.Arg1297Gly) c.165A>G c.4135A>G (p.Arg1379Gly) | |
| 10 | g.104033966T>G | CA471341422 | COL17A1 | c.3889A>C (p.Arg1297=) c.165A>C c.4135A>C (p.Arg1379=) | |
| 10 | g.104033967C>A | CA471341424 | COL17A1 | c.3888G>T (p.Val1296=) c.164G>T c.4134G>T (p.Val1378=) | |
| 10 | g.104033967C>G | CA471341426 | COL17A1 | c.3888G>C (p.Val1296=) c.164G>C c.4134G>C (p.Val1378=) | |
| 10 | g.104033967C>T | CA471341427 | COL17A1 | c.3888G>A (p.Val1296=) c.164G>A c.4134G>A (p.Val1378=) | gnomAD v4 |
| 10 | g.104033968A>C | CA378064905 | COL17A1 | c.3887T>G (p.Val1296Gly) c.163T>G c.4133T>G (p.Val1378Gly) | |
| 10 | g.104033968A>G | CA378064906 | COL17A1 | c.3887T>C (p.Val1296Ala) c.163T>C c.4133T>C (p.Val1378Ala) | |
| 10 | g.104033968A>T | CA378064907 | COL17A1 | c.3887T>A (p.Val1296Glu) c.163T>A c.4133T>A (p.Val1378Glu) | |
| 10 | g.104033968dup | CA2697558752 | COL17A1 | c.3887dup (p.Arg1297GlufsTer?) c.163dup c.4133dup (p.Arg1379GlufsTer?) | ClinVar |
| 10 | g.104033969C>A | CA378064910 | COL17A1 | c.3886G>T (p.Val1296Leu) c.162G>T c.4132G>T (p.Val1378Leu) | |
| 10 | g.104033969C>G | CA378064909 | COL17A1 | c.3886G>C (p.Val1296Leu) c.162G>C c.4132G>C (p.Val1378Leu) | gnomAD v4 |
| 10 | g.104033969C>T | CA378064908 | COL17A1 | c.3886G>A (p.Val1296Met) c.162G>A c.4132G>A (p.Val1378Met) | |
| 10 | g.104033970A>C | CA471341429 | COL17A1 | c.3885T>G (p.Ala1295=) c.161T>G c.4131T>G (p.Ala1377=) | |
| 10 | g.104033970A>G | CA471341431 | COL17A1 | c.3885T>C (p.Ala1295=) c.161T>C c.4131T>C (p.Ala1377=) | |
| 10 | g.104033970A>T | CA471341430 | COL17A1 | c.3885T>A (p.Ala1295=) c.161T>A c.4131T>A (p.Ala1377=) | |
| 10 | g.104033971G>A | CA378064911 | COL17A1 | c.3884C>T (p.Ala1295Val) c.160C>T c.4130C>T (p.Ala1377Val) | |
| 10 | g.104033971G>C | CA378064912 | COL17A1 | c.3884C>G (p.Ala1295Gly) c.160C>G c.4130C>G (p.Ala1377Gly) | |
| 10 | g.104033971G>T | CA378064913 | COL17A1 | c.3884C>A (p.Ala1295Asp) c.160C>A c.4130C>A (p.Ala1377Asp) | gnomAD v4 |
| 10 | g.104033972C>A | CA378064914 | COL17A1 | c.3883G>T (p.Ala1295Ser) c.159G>T c.4129G>T (p.Ala1377Ser) | |
| 10 | g.104033972C= | CA1933417819 | COL17A1 | c.3883G= (p.Ala1295=) c.159G= c.4129G= (p.Ala1377=) | |
| 10 | g.104033972C>G | CA378064915 | COL17A1 | c.3883G>C (p.Ala1295Pro) c.159G>C c.4129G>C (p.Ala1377Pro) | gnomAD v4 |
| 10 | g.104033972C>T | CA378064916 | COL17A1 | c.3883G>A (p.Ala1295Thr) c.159G>A c.4129G>A (p.Ala1377Thr) | dbSNP |
| 10 | g.104033973C>A | CA471341433 | COL17A1 | c.3882G>T (p.Leu1294=) c.158G>T c.4128G>T (p.Leu1376=) | |
| 10 | g.104033973C= | CA1933417825 | COL17A1 | c.3882G= (p.Leu1294=) c.158G= c.4128G= (p.Leu1376=) | |
| 10 | g.104033973C>G | CA5677712 | COL17A1 | c.3882G>C (p.Leu1294=) c.158G>C c.4128G>C (p.Leu1376=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104033973C>T | CA5677711 | COL17A1 | c.3882G>A (p.Leu1294=) c.158G>A c.4128G>A (p.Leu1376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104033974A>C | CA378064917 | COL17A1 | c.3881T>G (p.Leu1294Arg) c.157T>G c.4127T>G (p.Leu1376Arg) | |
| 10 | g.104033974A>G | CA378064918 | COL17A1 | c.3881T>C (p.Leu1294Pro) c.157T>C c.4127T>C (p.Leu1376Pro) | |
| 10 | g.104033974A>T | CA378064919 | COL17A1 | c.3881T>A (p.Leu1294Gln) c.157T>A c.4127T>A (p.Leu1376Gln) | |
| 10 | g.104033975G>A | CA212449818 | COL17A1 | c.3880C>T (p.Leu1294=) c.156C>T c.4126C>T (p.Leu1376=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104033975G>C | CA378064920 | COL17A1 | c.3880C>G (p.Leu1294Val) c.156C>G c.4126C>G (p.Leu1376Val) | |
| 10 | g.104033975G= | CA1933417829 | COL17A1 | c.3880C= (p.Leu1294=) c.156C= c.4126C= (p.Leu1376=) | |
| 10 | g.104033975G>T | CA378064921 | COL17A1 | c.3880C>A (p.Leu1294Met) c.156C>A c.4126C>A (p.Leu1376Met) | |
| 10 | g.104033976C>A | CA378064922 | COL17A1 | c.3879G>T (p.Glu1293Asp) c.155G>T c.4125G>T (p.Glu1375Asp) | gnomAD v4 |
| 10 | g.104033976C>G | CA378064923 | COL17A1 | c.3879G>C (p.Glu1293Asp) c.155G>C c.4125G>C (p.Glu1375Asp) | |
| 10 | g.104033976C>T | CA471341439 | COL17A1 | c.3879G>A (p.Glu1293=) c.155G>A c.4125G>A (p.Glu1375=) | |
| 10 | g.104033977T>A | CA378064925 | COL17A1 | c.3878A>T (p.Glu1293Val) c.154A>T c.4124A>T (p.Glu1375Val) | |
| 10 | g.104033977T>C | CA378064926 | COL17A1 | c.3878A>G (p.Glu1293Gly) c.154A>G c.4124A>G (p.Glu1375Gly) | |
| 10 | g.104033977T>G | CA378064924 | COL17A1 | c.3878A>C (p.Glu1293Ala) c.154A>C c.4124A>C (p.Glu1375Ala) | |
| 10 | g.104033978C>A | CA378064927 | COL17A1 | c.3877G>T (p.Glu1293Ter) c.153G>T c.4123G>T (p.Glu1375Ter) | |
| 10 | g.104033978C>G | CA378064928 | COL17A1 | c.3877G>C (p.Glu1293Gln) c.153G>C c.4123G>C (p.Glu1375Gln) | gnomAD v4 |
| 10 | g.104033978C>T | CA378064929 | COL17A1 | c.3877G>A (p.Glu1293Lys) c.153G>A c.4123G>A (p.Glu1375Lys) | gnomAD v4 |
| 10 | g.104033979A= | CA1933417831 | COL17A1 | c.3876T= (p.Asn1292=) c.152T= c.4122T= (p.Asn1374=) | |
| 10 | g.104033979A>C | CA378064930 | COL17A1 | c.3876T>G (p.Asn1292Lys) c.152T>G c.4122T>G (p.Asn1374Lys) | dbSNP gnomAD v4 |
| 10 | g.104033979A>G | CA5677713 | COL17A1 | c.3876T>C (p.Asn1292=) c.152T>C c.4122T>C (p.Asn1374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104033979A>T | CA378064931 | COL17A1 | c.3876T>A (p.Asn1292Lys) c.152T>A c.4122T>A (p.Asn1374Lys) | |
| 10 | g.104033980T>A | CA378064934 | COL17A1 | c.3875A>T (p.Asn1292Ile) c.151A>T c.4121A>T (p.Asn1374Ile) | |
| 10 | g.104033980T>C | CA378064932 | COL17A1 | c.3875A>G (p.Asn1292Ser) c.151A>G c.4121A>G (p.Asn1374Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104033980T>G | CA378064933 | COL17A1 | c.3875A>C (p.Asn1292Thr) c.151A>C c.4121A>C (p.Asn1374Thr) | |
| 10 | g.104033980T= | CA1933417835 | COL17A1 | c.3875A= (p.Asn1292=) c.151A= c.4121A= (p.Asn1374=) | |
| 10 | g.104033981T>A | CA378064935 | COL17A1 | c.3874A>T (p.Asn1292Tyr) c.150A>T c.4120A>T (p.Asn1374Tyr) | |
| 10 | g.104033981T>C | CA5677714 | COL17A1 | c.3874A>G (p.Asn1292Asp) c.150A>G c.4120A>G (p.Asn1374Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104033981T>G | CA378064936 | COL17A1 | c.3874A>C (p.Asn1292His) c.150A>C c.4120A>C (p.Asn1374His) | |
| 10 | g.104033981T= | CA1933417837 | COL17A1 | c.3874A= (p.Asn1292=) c.150A= c.4120A= (p.Asn1374=) | |
| 10 | g.104033982G>A | CA471341463 | COL17A1 | c.3873C>T (p.Tyr1291=) c.149C>T c.4119C>T (p.Tyr1373=) | gnomAD v4 |
| 10 | g.104033982G>C | CA378064937 | COL17A1 | c.3873C>G (p.Tyr1291Ter) c.149C>G c.4119C>G (p.Tyr1373Ter) | |
| 10 | g.104033982G>T | CA378064938 | COL17A1 | c.3873C>A (p.Tyr1291Ter) c.149C>A c.4119C>A (p.Tyr1373Ter) | |
| 10 | g.104033983T>A | CA378064939 | COL17A1 | c.3872A>T (p.Tyr1291Phe) c.148A>T c.4118A>T (p.Tyr1373Phe) | |
| 10 | g.104033983T>C | CA378064941 | COL17A1 | c.3872A>G (p.Tyr1291Cys) c.148A>G c.4118A>G (p.Tyr1373Cys) | |
| 10 | g.104033983T>G | CA378064940 | COL17A1 | c.3872A>C (p.Tyr1291Ser) c.148A>C c.4118A>C (p.Tyr1373Ser) | |
| 10 | g.104033984A= | CA1933417843 | COL17A1 | c.3871T= (p.Tyr1291=) c.147T= c.4117T= (p.Tyr1373=) | |
| 10 | g.104033984A>C | CA378064942 | COL17A1 | c.3871T>G (p.Tyr1291Asp) c.147T>G c.4117T>G (p.Tyr1373Asp) | |
| 10 | g.104033984A>G | CA5677715 | COL17A1 | c.3871T>C (p.Tyr1291His) c.147T>C c.4117T>C (p.Tyr1373His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104033984A>T | CA378064943 | COL17A1 | c.3871T>A (p.Tyr1291Asn) c.147T>A c.4117T>A (p.Tyr1373Asn) | |
| 10 | g.104033985A>C | CA378064944 | COL17A1 | c.3870T>G (p.Asp1290Glu) c.146T>G c.4116T>G (p.Asp1372Glu) | |
| 10 | g.104033985A>G | CA471341475 | COL17A1 | c.3870T>C (p.Asp1290=) c.146T>C c.4116T>C (p.Asp1372=) | |
| 10 | g.104033985A>T | CA378064945 | COL17A1 | c.3870T>A (p.Asp1290Glu) c.146T>A c.4116T>A (p.Asp1372Glu) | |
| 10 | g.104033986T>A | CA378064946 | COL17A1 | c.3869A>T (p.Asp1290Val) c.145A>T c.4115A>T (p.Asp1372Val) | |
| 10 | g.104033986T>C | CA378064947 | COL17A1 | c.3869A>G (p.Asp1290Gly) c.145A>G c.4115A>G (p.Asp1372Gly) | |
| 10 | g.104033986T>G | CA378064948 | COL17A1 | c.3869A>C (p.Asp1290Ala) c.145A>C c.4115A>C (p.Asp1372Ala) | |
| 10 | g.104033987C>A | CA5677716 | COL17A1 | c.3868G>T (p.Asp1290Tyr) c.144G>T c.4114G>T (p.Asp1372Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104033987C= | CA1933417847 | COL17A1 | c.3868G= (p.Asp1290=) c.144G= c.4114G= (p.Asp1372=) | |
| 10 | g.104033987C>G | CA378064949 | COL17A1 | c.3868G>C (p.Asp1290His) c.144G>C c.4114G>C (p.Asp1372His) | dbSNP |
| 10 | g.104033987C>T | CA378064950 | COL17A1 | c.3868G>A (p.Asp1290Asn) c.144G>A c.4114G>A (p.Asp1372Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104033988C>A | CA471341490 | COL17A1 | c.3867G>T (p.Leu1289=) c.143G>T c.4113G>T (p.Leu1371=) | |
| 10 | g.104033988C>G | CA471341493 | COL17A1 | c.3867G>C (p.Leu1289=) c.143G>C c.4113G>C (p.Leu1371=) | |
| 10 | g.104033988C>T | CA471341494 | COL17A1 | c.3867G>A (p.Leu1289=) c.143G>A c.4113G>A (p.Leu1371=) | |
| 10 | g.104033989A= | CA1933417848 | COL17A1 | c.3866T= (p.Leu1289=) c.142T= c.4112T= (p.Leu1371=) | |
| 10 | g.104033989A>C | CA378064953 | COL17A1 | c.3866T>G (p.Leu1289Arg) c.142T>G c.4112T>G (p.Leu1371Arg) | |
| 10 | g.104033989A>G | CA378064951 | COL17A1 | c.3866T>C (p.Leu1289Pro) c.142T>C c.4112T>C (p.Leu1371Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104033989A>T | CA378064952 | COL17A1 | c.3866T>A (p.Leu1289Gln) c.142T>A c.4112T>A (p.Leu1371Gln) | |
| 10 | g.104033990G>A | CA471341502 | COL17A1 | c.3865C>T (p.Leu1289=) c.141C>T c.4111C>T (p.Leu1371=) | ClinVar |
| 10 | g.104033990G>C | CA378064954 | COL17A1 | c.3865C>G (p.Leu1289Val) c.141C>G c.4111C>G (p.Leu1371Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104033990G= | CA1933417851 | COL17A1 | c.3865C= (p.Leu1289=) c.141C= c.4111C= (p.Leu1371=) | |
| 10 | g.104033990G>T | CA378064955 | COL17A1 | c.3865C>A (p.Leu1289Met) c.141C>A c.4111C>A (p.Leu1371Met) | gnomAD v4 |
| 10 | g.104033991A= | CA1933417853 | COL17A1 | c.3864T= (p.Asp1288=) c.140T= c.4110T= (p.Asp1370=) | |
| 10 | g.104033991A>C | CA378064956 | COL17A1 | c.3864T>G (p.Asp1288Glu) c.140T>G c.4110T>G (p.Asp1370Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104033991A>G | CA471341508 | COL17A1 | c.3864T>C (p.Asp1288=) c.140T>C c.4110T>C (p.Asp1370=) | ClinVar gnomAD v4 |
| 10 | g.104033991A>T | CA212449847 | COL17A1 | c.3864T>A (p.Asp1288Glu) c.140T>A c.4110T>A (p.Asp1370Glu) | dbSNP gnomAD v4 |
| 10 | g.104033992T>A | CA378064957 | COL17A1 | c.3863A>T (p.Asp1288Val) c.139A>T c.4109A>T (p.Asp1370Val) | |
| 10 | g.104033992T>C | CA5677717 | COL17A1 | c.3863A>G (p.Asp1288Gly) c.139A>G c.4109A>G (p.Asp1370Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104033992T>G | CA5677718 | COL17A1 | c.3863A>C (p.Asp1288Ala) c.139A>C c.4109A>C (p.Asp1370Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104033992T= | CA1933417858 | COL17A1 | c.3863A= (p.Asp1288=) c.139A= c.4109A= (p.Asp1370=) | |
| 10 | g.104033993C>A | CA378064960 | COL17A1 | c.3862G>T (p.Asp1288Tyr) c.138G>T c.4108G>T (p.Asp1370Tyr) | |
| 10 | g.104033993C>G | CA378064959 | COL17A1 | c.3862G>C (p.Asp1288His) c.138G>C c.4108G>C (p.Asp1370His) | |
| 10 | g.104033993C>T | CA378064958 | COL17A1 | c.3862G>A (p.Asp1288Asn) c.138G>A c.4108G>A (p.Asp1370Asn) | gnomAD v4 COSMIC |
| 10 | g.104033994T>A | CA471341525 | COL17A1 | c.3861A>T (p.Gly1287=) c.137A>T c.4107A>T (p.Gly1369=) | |
| 10 | g.104033994T>C | CA471341528 | COL17A1 | c.3861A>G (p.Gly1287=) c.137A>G c.4107A>G (p.Gly1369=) | |
| 10 | g.104033994T>G | CA471341529 | COL17A1 | c.3861A>C (p.Gly1287=) c.137A>C c.4107A>C (p.Gly1369=) | gnomAD v4 |
| 10 | g.104033995C>A | CA378064961 | COL17A1 | c.3860G>T (p.Gly1287Val) c.136G>T c.4106G>T (p.Gly1369Val) | |
| 10 | g.104033995C>G | CA378064962 | COL17A1 | c.3860G>C (p.Gly1287Ala) c.136G>C c.4106G>C (p.Gly1369Ala) | |
| 10 | g.104033995C>T | CA378064963 | COL17A1 | c.3860G>A (p.Gly1287Glu) c.136G>A c.4106G>A (p.Gly1369Glu) | gnomAD v4 |
| 10 | g.104033996C>A | CA378064964 | COL17A1 | c.3859G>T (p.Gly1287Ter) c.135G>T c.4105G>T (p.Gly1369Ter) | |
| 10 | g.104033996C>G | CA378064965 | COL17A1 | c.3859G>C (p.Gly1287Arg) c.135G>C c.4105G>C (p.Gly1369Arg) | |
| 10 | g.104033996C>T | CA378064966 | COL17A1 | c.3859G>A (p.Gly1287Arg) c.135G>A c.4105G>A (p.Gly1369Arg) | gnomAD v4 |
| 10 | g.104033997A>C | CA471341538 | COL17A1 | c.3858T>G (p.Ala1286=) c.134T>G c.4104T>G (p.Ala1368=) | |
| 10 | g.104033997A>G | CA471341540 | COL17A1 | c.3858T>C (p.Ala1286=) c.134T>C c.4104T>C (p.Ala1368=) | |
| 10 | g.104033997A>T | CA471341542 | COL17A1 | c.3858T>A (p.Ala1286=) c.134T>A c.4104T>A (p.Ala1368=) | |
| 10 | g.104033998G>A | CA378064967 | COL17A1 | c.3857C>T (p.Ala1286Val) c.133C>T c.4103C>T (p.Ala1368Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104033998G>C | CA378064969 | COL17A1 | c.3857C>G (p.Ala1286Gly) c.133C>G c.4103C>G (p.Ala1368Gly) | |
| 10 | g.104033998G= | CA1933417863 | COL17A1 | c.3857C= (p.Ala1286=) c.133C= c.4103C= (p.Ala1368=) | |
| 10 | g.104033998G>T | CA378064968 | COL17A1 | c.3857C>A (p.Ala1286Asp) c.133C>A c.4103C>A (p.Ala1368Asp) | |
| 10 | g.104033999C>A | CA378064970 | COL17A1 | c.3856G>T (p.Ala1286Ser) c.132G>T c.4102G>T (p.Ala1368Ser) | |
| 10 | g.104033999C>G | CA378064971 | COL17A1 | c.3856G>C (p.Ala1286Pro) c.132G>C c.4102G>C (p.Ala1368Pro) | gnomAD v4 |
| 10 | g.104033999C>T | CA378064972 | COL17A1 | c.3856G>A (p.Ala1286Thr) c.132G>A c.4102G>A (p.Ala1368Thr) | |
| 10 | g.104034000A>C | CA378064973 | COL17A1 | c.3855T>G (p.Phe1285Leu) c.131T>G c.4101T>G (p.Phe1367Leu) | |
| 10 | g.104034000A>G | CA471341551 | COL17A1 | c.3855T>C (p.Phe1285=) c.131T>C c.4101T>C (p.Phe1367=) | |
| 10 | g.104034000A>T | CA378064974 | COL17A1 | c.3855T>A (p.Phe1285Leu) c.131T>A c.4101T>A (p.Phe1367Leu) | |
| 10 | g.104034001_104034002del | CA2695212671 | COL17A1 | c.3854_3855del (p.Phe1285CysfsTer8) c.130_131del c.4100_4101del (p.Phe1367CysfsTer8) | |
| 10 | g.104034001A= | CA1933417866 | COL17A1 | c.3854T= (p.Phe1285=) c.130T= c.4100T= (p.Phe1367=) | |
| 10 | g.104034001A>C | CA378064975 | COL17A1 | c.3854T>G (p.Phe1285Cys) c.130T>G c.4100T>G (p.Phe1367Cys) | |
| 10 | g.104034001A>G | CA10630890 | COL17A1 | c.3854T>C (p.Phe1285Ser) c.130T>C c.4100T>C (p.Phe1367Ser) | ClinVar dbSNP |
| 10 | g.104034001A>T | CA378064976 | COL17A1 | c.3854T>A (p.Phe1285Tyr) c.130T>A c.4100T>A (p.Phe1367Tyr) | |
| 10 | g.104034002A= | CA1933417869 | COL17A1 | c.3853T= (p.Phe1285=) c.129T= c.4099T= (p.Phe1367=) | |
| 10 | g.104034002A>C | CA378064977 | COL17A1 | c.3853T>G (p.Phe1285Val) c.129T>G c.4099T>G (p.Phe1367Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034002A>G | CA378064978 | COL17A1 | c.3853T>C (p.Phe1285Leu) c.129T>C c.4099T>C (p.Phe1367Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034002A>T | CA378064979 | COL17A1 | c.3853T>A (p.Phe1285Ile) c.129T>A c.4099T>A (p.Phe1367Ile) | |
| 10 | g.104034003G>A | CA471341561 | COL17A1 | c.3852C>T (p.Asp1284=) c.128C>T c.4098C>T (p.Asp1366=) | |
| 10 | g.104034003G>C | CA378064981 | COL17A1 | c.3852C>G (p.Asp1284Glu) c.128C>G c.4098C>G (p.Asp1366Glu) | |
| 10 | g.104034003G>T | CA378064980 | COL17A1 | c.3852C>A (p.Asp1284Glu) c.128C>A c.4098C>A (p.Asp1366Glu) | |
| 10 | g.104034004T>A | CA378064982 | COL17A1 | c.3851A>T (p.Asp1284Val) c.127A>T c.4097A>T (p.Asp1366Val) | |
| 10 | g.104034004T>C | CA378064983 | COL17A1 | c.3851A>G (p.Asp1284Gly) c.127A>G c.4097A>G (p.Asp1366Gly) | |
| 10 | g.104034004T>G | CA378064984 | COL17A1 | c.3851A>C (p.Asp1284Ala) c.127A>C c.4097A>C (p.Asp1366Ala) | |
| 10 | g.104034005C>A | CA378064985 | COL17A1 | c.3850G>T (p.Asp1284Tyr) c.126G>T c.4096G>T (p.Asp1366Tyr) | |
| 10 | g.104034005C>G | CA378064986 | COL17A1 | c.3850G>C (p.Asp1284His) c.126G>C c.4096G>C (p.Asp1366His) | COSMIC |
| 10 | g.104034005C>T | CA378064987 | COL17A1 | c.3850G>A (p.Asp1284Asn) c.126G>A c.4096G>A (p.Asp1366Asn) | |
| 10 | g.104034006A>C | CA471341575 | COL17A1 | c.3849T>G (p.Ala1283=) c.125T>G c.4095T>G (p.Ala1365=) | |
| 10 | g.104034006A>G | CA471341577 | COL17A1 | c.3849T>C (p.Ala1283=) c.125T>C c.4095T>C (p.Ala1365=) | |
| 10 | g.104034006A>T | CA471341578 | COL17A1 | c.3849T>A (p.Ala1283=) c.125T>A c.4095T>A (p.Ala1365=) | |
| 10 | g.104034007G>A | CA378064989 | COL17A1 | c.3848C>T (p.Ala1283Val) c.124C>T c.4094C>T (p.Ala1365Val) | |
| 10 | g.104034007G>C | CA378064988 | COL17A1 | c.3848C>G (p.Ala1283Gly) c.124C>G c.4094C>G (p.Ala1365Gly) | |
| 10 | g.104034007G= | CA1933417871 | COL17A1 | c.3848C= (p.Ala1283=) c.124C= c.4094C= (p.Ala1365=) | |
| 10 | g.104034007G>T | CA5677719 | COL17A1 | c.3848C>A (p.Ala1283Asp) c.124C>A c.4094C>A (p.Ala1365Asp) | dbSNP ExAC gnomAD v2 |
| 10 | g.104034008C>A | CA378064990 | COL17A1 | c.3847G>T (p.Ala1283Ser) c.123G>T c.4093G>T (p.Ala1365Ser) | |
| 10 | g.104034008C= | CA1933417874 | COL17A1 | c.3847G= (p.Ala1283=) c.123G= c.4093G= (p.Ala1365=) | |
| 10 | g.104034008C>G | CA378064991 | COL17A1 | c.3847G>C (p.Ala1283Pro) c.123G>C c.4093G>C (p.Ala1365Pro) | dbSNP |
| 10 | g.104034008C>T | CA378064992 | COL17A1 | c.3847G>A (p.Ala1283Thr) c.123G>A c.4093G>A (p.Ala1365Thr) | |
| 10 | g.104034009T>A | CA471341589 | COL17A1 | c.3846A>T (p.Gly1282=) c.122A>T c.4092A>T (p.Gly1364=) | |
| 10 | g.104034009T>C | CA471341591 | COL17A1 | c.3846A>G (p.Gly1282=) c.122A>G c.4092A>G (p.Gly1364=) | |
| 10 | g.104034009T>G | CA471341593 | COL17A1 | c.3846A>C (p.Gly1282=) c.122A>C c.4092A>C (p.Gly1364=) | |
| 10 | g.104034010C>A | CA378064993 | COL17A1 | c.3845G>T (p.Gly1282Val) c.121G>T c.4091G>T (p.Gly1364Val) | |
| 10 | g.104034010C>G | CA378064994 | COL17A1 | c.3845G>C (p.Gly1282Ala) c.121G>C c.4091G>C (p.Gly1364Ala) | |
| 10 | g.104034010C>T | CA378064995 | COL17A1 | c.3845G>A (p.Gly1282Glu) c.121G>A c.4091G>A (p.Gly1364Glu) | |
| 10 | g.104034011C>A | CA378064996 | COL17A1 | c.3844G>T (p.Gly1282Ter) c.120G>T c.4090G>T (p.Gly1364Ter) | |
| 10 | g.104034011C= | CA1933417878 | COL17A1 | c.3844G= (p.Gly1282=) c.120G= c.4090G= (p.Gly1364=) | |
| 10 | g.104034011C>G | CA378064998 | COL17A1 | c.3844G>C (p.Gly1282Arg) c.120G>C c.4090G>C (p.Gly1364Arg) | |
| 10 | g.104034011C>T | CA378064997 | COL17A1 | c.3844G>A (p.Gly1282Arg) c.120G>A c.4090G>A (p.Gly1364Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034012C>A | CA378064999 | COL17A1 | c.3843G>T (p.Leu1281Phe) c.119G>T c.4089G>T (p.Leu1363Phe) | |
| 10 | g.104034012C= | CA1933417881 | COL17A1 | c.3843G= (p.Leu1281=) c.119G= c.4089G= (p.Leu1363=) | |
| 10 | g.104034012C>G | CA378065000 | COL17A1 | c.3843G>C (p.Leu1281Phe) c.119G>C c.4089G>C (p.Leu1363Phe) | dbSNP |
| 10 | g.104034012C>T | CA471341602 | COL17A1 | c.3843G>A (p.Leu1281=) c.119G>A c.4089G>A (p.Leu1363=) | COSMIC |
| 10 | g.104034013A= | CA1933417887 | COL17A1 | c.3842T= (p.Leu1281=) c.118T= c.4088T= (p.Leu1363=) | |
| 10 | g.104034013A>C | CA378065001 | COL17A1 | c.3842T>G (p.Leu1281Trp) c.118T>G c.4088T>G (p.Leu1363Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034013A>G | CA5677720 | COL17A1 | c.3842T>C (p.Leu1281Ser) c.118T>C c.4088T>C (p.Leu1363Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034013A>T | CA378065002 | COL17A1 | c.3842T>A (p.Leu1281Ter) c.118T>A c.4088T>A (p.Leu1363Ter) | |
| 10 | g.104034014del | CA2695212672 | COL17A1 | c.3842del (p.Leu1281TrpfsTer16) c.118del c.4088del (p.Leu1363TrpfsTer16) | |
| 10 | g.104034014A= | CA1933417893 | COL17A1 | c.3841T= (p.Leu1281=) c.117T= c.4087T= (p.Leu1363=) | |
| 10 | g.104034014A>C | CA378065003 | COL17A1 | c.3841T>G (p.Leu1281Val) c.117T>G c.4087T>G (p.Leu1363Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034014A>G | CA471341611 | COL17A1 | c.3841T>C (p.Leu1281=) c.117T>C c.4087T>C (p.Leu1363=) | dbSNP |
| 10 | g.104034014A>T | CA378065004 | COL17A1 | c.3841T>A (p.Leu1281Met) c.117T>A c.4087T>A (p.Leu1363Met) | |
| 10 | g.104034015T>A | CA471341616 | COL17A1 | c.3840A>T (p.Leu1280=) c.116A>T c.4086A>T (p.Leu1362=) | |
| 10 | g.104034015T>C | CA471341619 | COL17A1 | c.3840A>G (p.Leu1280=) c.116A>G c.4086A>G (p.Leu1362=) | |
| 10 | g.104034015T>G | CA471341621 | COL17A1 | c.3840A>C (p.Leu1280=) c.116A>C c.4086A>C (p.Leu1362=) | |
| 10 | g.104034016A>C | CA378065005 | COL17A1 | c.3839T>G (p.Leu1280Arg) c.115T>G c.4085T>G (p.Leu1362Arg) | gnomAD v4 |
| 10 | g.104034016A>G | CA378065006 | COL17A1 | c.3839T>C (p.Leu1280Pro) c.115T>C c.4085T>C (p.Leu1362Pro) | |
| 10 | g.104034016A>T | CA378065007 | COL17A1 | c.3839T>A (p.Leu1280Gln) c.115T>A c.4085T>A (p.Leu1362Gln) | |
| 10 | g.104034017G>A | CA471341630 | COL17A1 | c.3838C>T (p.Leu1280=) c.114C>T c.4084C>T (p.Leu1362=) | |
| 10 | g.104034017G>C | CA378065008 | COL17A1 | c.3838C>G (p.Leu1280Val) c.114C>G c.4084C>G (p.Leu1362Val) | |
| 10 | g.104034017G= | CA1933417897 | COL17A1 | c.3838C= (p.Leu1280=) c.114C= c.4084C= (p.Leu1362=) | |
| 10 | g.104034017G>T | CA378065009 | COL17A1 | c.3838C>A (p.Leu1280Ile) c.114C>A c.4084C>A (p.Leu1362Ile) | dbSNP |
| 10 | g.104034018T>A | CA471341632 | COL17A1 | c.3837A>T (p.Gly1279=) c.113A>T c.4083A>T (p.Gly1361=) | |
| 10 | g.104034018T>C | CA471341634 | COL17A1 | c.3837A>G (p.Gly1279=) c.113A>G c.4083A>G (p.Gly1361=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034018T>G | CA471341636 | COL17A1 | c.3837A>C (p.Gly1279=) c.113A>C c.4083A>C (p.Gly1361=) | |
| 10 | g.104034018T= | CA1933417900 | COL17A1 | c.3837A= (p.Gly1279=) c.113A= c.4083A= (p.Gly1361=) | |
| 10 | g.104034019C>A | CA378065010 | COL17A1 | c.3836G>T (p.Gly1279Val) c.112G>T c.4082G>T (p.Gly1361Val) | |
| 10 | g.104034019C= | CA1933417904 | COL17A1 | c.3836G= (p.Gly1279=) c.112G= c.4082G= (p.Gly1361=) | |
| 10 | g.104034019C>G | CA378065012 | COL17A1 | c.3836G>C (p.Gly1279Ala) c.112G>C c.4082G>C (p.Gly1361Ala) | |
| 10 | g.104034019C>T | CA378065011 | COL17A1 | c.3836G>A (p.Gly1279Glu) c.112G>A c.4082G>A (p.Gly1361Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034020C>A | CA378065013 | COL17A1 | c.3835G>T (p.Gly1279Ter) c.111G>T c.4081G>T (p.Gly1361Ter) | |
| 10 | g.104034020C= | CA1933417909 | COL17A1 | c.3835G= (p.Gly1279=) c.111G= c.4081G= (p.Gly1361=) | |
| 10 | g.104034020C>G | CA378065014 | COL17A1 | c.3835G>C (p.Gly1279Arg) c.111G>C c.4081G>C (p.Gly1361Arg) | |
| 10 | g.104034020C>T | CA5677721 | COL17A1 | c.3835G>A (p.Gly1279Arg) c.111G>A c.4081G>A (p.Gly1361Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034021G>A | CA5677722 | COL17A1 | c.3834C>T (p.Gly1278=) c.110C>T c.4080C>T (p.Gly1360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034021G>C | CA471341648 | COL17A1 | c.3834C>G (p.Gly1278=) c.110C>G c.4080C>G (p.Gly1360=) | |
| 10 | g.104034021G= | CA1933417914 | COL17A1 | c.3834C= (p.Gly1278=) c.110C= c.4080C= (p.Gly1360=) | |
| 10 | g.104034021G>T | CA471341650 | COL17A1 | c.3834C>A (p.Gly1278=) c.110C>A c.4080C>A (p.Gly1360=) | |
| 10 | g.104034022C>A | CA378065017 | COL17A1 | c.3833G>T (p.Gly1278Val) c.109G>T c.4079G>T (p.Gly1360Val) | |
| 10 | g.104034022C= | CA1933417919 | COL17A1 | c.3833G= (p.Gly1278=) c.109G= c.4079G= (p.Gly1360=) | |
| 10 | g.104034022C>G | CA378065015 | COL17A1 | c.3833G>C (p.Gly1278Ala) c.109G>C c.4079G>C (p.Gly1360Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034022C>T | CA378065016 | COL17A1 | c.3833G>A (p.Gly1278Asp) c.109G>A c.4079G>A (p.Gly1360Asp) | |
| 10 | g.104034023C>A | CA378065018 | COL17A1 | c.3832G>T (p.Gly1278Cys) c.108G>T c.4078G>T (p.Gly1360Cys) | |
| 10 | g.104034023C= | CA1933417924 | COL17A1 | c.3832G= (p.Gly1278=) c.108G= c.4078G= (p.Gly1360=) | |
| 10 | g.104034023C>G | CA378065019 | COL17A1 | c.3832G>C (p.Gly1278Arg) c.108G>C c.4078G>C (p.Gly1360Arg) | |
| 10 | g.104034023C>T | CA378065020 | COL17A1 | c.3832G>A (p.Gly1278Ser) c.108G>A c.4078G>A (p.Gly1360Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034024A>C | CA378065021 | COL17A1 | c.3831T>G (p.Asn1277Lys) c.107T>G c.4077T>G (p.Asn1359Lys) | |
| 10 | g.104034024A>G | CA471341659 | COL17A1 | c.3831T>C (p.Asn1277=) c.107T>C c.4077T>C (p.Asn1359=) | |
| 10 | g.104034024A>T | CA378065022 | COL17A1 | c.3831T>A (p.Asn1277Lys) c.107T>A c.4077T>A (p.Asn1359Lys) | |
| 10 | g.104034025T>A | CA378065023 | COL17A1 | c.3830A>T (p.Asn1277Ile) c.106A>T c.4076A>T (p.Asn1359Ile) | |
| 10 | g.104034025T>C | CA378065024 | COL17A1 | c.3830A>G (p.Asn1277Ser) c.106A>G c.4076A>G (p.Asn1359Ser) | |
| 10 | g.104034025T>G | CA378065025 | COL17A1 | c.3830A>C (p.Asn1277Thr) c.106A>C c.4076A>C (p.Asn1359Thr) | |
| 10 | g.104034026T>A | CA378065028 | COL17A1 | c.3829A>T (p.Asn1277Tyr) c.105A>T c.4075A>T (p.Asn1359Tyr) | |
| 10 | g.104034026T>C | CA378065027 | COL17A1 | c.3829A>G (p.Asn1277Asp) c.105A>G c.4075A>G (p.Asn1359Asp) | |
| 10 | g.104034026T>G | CA378065026 | COL17A1 | c.3829A>C (p.Asn1277His) c.105A>C c.4075A>C (p.Asn1359His) | |
| 10 | g.104034027G>A | CA471341667 | COL17A1 | c.3828C>T (p.Gly1276=) c.104C>T c.4074C>T (p.Gly1358=) | |
| 10 | g.104034027G>C | CA471341668 | COL17A1 | c.3828C>G (p.Gly1276=) c.104C>G c.4074C>G (p.Gly1358=) | |
| 10 | g.104034027G>T | CA471341670 | COL17A1 | c.3828C>A (p.Gly1276=) c.104C>A c.4074C>A (p.Gly1358=) | |
| 10 | g.104034028C>A | CA378065029 | COL17A1 | c.3827G>T (p.Gly1276Val) c.103G>T c.4073G>T (p.Gly1358Val) | |
| 10 | g.104034028C>G | CA378065030 | COL17A1 | c.3827G>C (p.Gly1276Ala) c.103G>C c.4073G>C (p.Gly1358Ala) | |
| 10 | g.104034028C>T | CA378065031 | COL17A1 | c.3827G>A (p.Gly1276Asp) c.103G>A c.4073G>A (p.Gly1358Asp) | |
| 10 | g.104034029C>A | CA378065032 | COL17A1 | c.3826G>T (p.Gly1276Cys) c.102G>T c.4072G>T (p.Gly1358Cys) | |
| 10 | g.104034029C= | CA1933417926 | COL17A1 | c.3826G= (p.Gly1276=) c.102G= c.4072G= (p.Gly1358=) | |
| 10 | g.104034029C>G | CA378065033 | COL17A1 | c.3826G>C (p.Gly1276Arg) c.102G>C c.4072G>C (p.Gly1358Arg) | |
| 10 | g.104034029C>T | CA378065034 | COL17A1 | c.3826G>A (p.Gly1276Ser) c.102G>A c.4072G>A (p.Gly1358Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034030A>C | CA471341678 | COL17A1 | c.3825T>G (p.Ala1275=) c.101T>G c.4071T>G (p.Ala1357=) | |
| 10 | g.104034030A>G | CA471341680 | COL17A1 | c.3825T>C (p.Ala1275=) c.101T>C c.4071T>C (p.Ala1357=) | gnomAD v4 |
| 10 | g.104034030A>T | CA471341682 | COL17A1 | c.3825T>A (p.Ala1275=) c.101T>A c.4071T>A (p.Ala1357=) | |
| 10 | g.104034031G>A | CA378065035 | COL17A1 | c.3824C>T (p.Ala1275Val) c.100C>T c.4070C>T (p.Ala1357Val) | |
| 10 | g.104034031G>C | CA378065036 | COL17A1 | c.3824C>G (p.Ala1275Gly) c.100C>G c.4070C>G (p.Ala1357Gly) | |
| 10 | g.104034031G>T | CA378065037 | COL17A1 | c.3824C>A (p.Ala1275Asp) c.100C>A c.4070C>A (p.Ala1357Asp) | |
| 10 | g.104034032C>A | CA378065038 | COL17A1 | c.3823G>T (p.Ala1275Ser) c.99G>T c.4069G>T (p.Ala1357Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104034032C= | CA1933417928 | COL17A1 | c.3823G= (p.Ala1275=) c.99G= c.4069G= (p.Ala1357=) | |
| 10 | g.104034032C>G | CA378065039 | COL17A1 | c.3823G>C (p.Ala1275Pro) c.99G>C c.4069G>C (p.Ala1357Pro) | |
| 10 | g.104034032C>T | CA5677723 | COL17A1 | c.3823G>A (p.Ala1275Thr) c.99G>A c.4069G>A (p.Ala1357Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034033A= | CA1933417932 | COL17A1 | c.3822T= (p.Tyr1274=) c.98T= c.4068T= (p.Tyr1356=) | |
| 10 | g.104034033A>C | CA378065041 | COL17A1 | c.3822T>G (p.Tyr1274Ter) c.98T>G c.4068T>G (p.Tyr1356Ter) | dbSNP gnomAD v4 |
| 10 | g.104034033A>G | CA5677724 | COL17A1 | c.3822T>C (p.Tyr1274=) c.98T>C c.4068T>C (p.Tyr1356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034033A>T | CA378065040 | COL17A1 | c.3822T>A (p.Tyr1274Ter) c.98T>A c.4068T>A (p.Tyr1356Ter) | |
| 10 | g.104034034T>A | CA378065042 | COL17A1 | c.3821A>T (p.Tyr1274Phe) c.97A>T c.4067A>T (p.Tyr1356Phe) | dbSNP |
| 10 | g.104034034T>C | CA378065043 | COL17A1 | c.3821A>G (p.Tyr1274Cys) c.97A>G c.4067A>G (p.Tyr1356Cys) | ClinVar dbSNP |
| 10 | g.104034034T>G | CA378065044 | COL17A1 | c.3821A>C (p.Tyr1274Ser) c.97A>C c.4067A>C (p.Tyr1356Ser) | |
| 10 | g.104034034T= | CA1933417933 | COL17A1 | c.3821A= (p.Tyr1274=) c.97A= c.4067A= (p.Tyr1356=) | |
| 10 | g.104034035A= | CA1933417935 | COL17A1 | c.3820T= (p.Tyr1274=) c.96T= c.4066T= (p.Tyr1356=) | |
| 10 | g.104034035A>C | CA378065045 | COL17A1 | c.3820T>G (p.Tyr1274Asp) c.96T>G c.4066T>G (p.Tyr1356Asp) | |
| 10 | g.104034035A>G | CA378065046 | COL17A1 | c.3820T>C (p.Tyr1274His) c.96T>C c.4066T>C (p.Tyr1356His) | dbSNP |
| 10 | g.104034035A>T | CA378065047 | COL17A1 | c.3820T>A (p.Tyr1274Asn) c.96T>A c.4066T>A (p.Tyr1356Asn) | |
| 10 | g.104034036C>A | CA378065048 | COL17A1 | c.3819G>T (p.Met1273Ile) c.95G>T c.4065G>T (p.Met1355Ile) | |
| 10 | g.104034036C= | CA1933417939 | COL17A1 | c.3819G= (p.Met1273=) c.95G= c.4065G= (p.Met1355=) | |
| 10 | g.104034036C>G | CA378065049 | COL17A1 | c.3819G>C (p.Met1273Ile) c.95G>C c.4065G>C (p.Met1355Ile) | dbSNP |
| 10 | g.104034036C>T | CA378065050 | COL17A1 | c.3819G>A (p.Met1273Ile) c.95G>A c.4065G>A (p.Met1355Ile) | |
| 10 | g.104034037A= | CA1933417942 | COL17A1 | c.3818T= (p.Met1273=) c.94T= c.4064T= (p.Met1355=) | |
| 10 | g.104034037A>C | CA5677725 | COL17A1 | c.3818T>G (p.Met1273Arg) c.94T>G c.4064T>G (p.Met1355Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034037A>G | CA378065051 | COL17A1 | c.3818T>C (p.Met1273Thr) c.94T>C c.4064T>C (p.Met1355Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034037A>T | CA378065052 | COL17A1 | c.3818T>A (p.Met1273Lys) c.94T>A c.4064T>A (p.Met1355Lys) | |
| 10 | g.104034038T>A | CA378065055 | COL17A1 | c.3817A>T (p.Met1273Leu) c.93A>T c.4063A>T (p.Met1355Leu) | |
| 10 | g.104034038T>C | CA378065053 | COL17A1 | c.3817A>G (p.Met1273Val) c.93A>G c.4063A>G (p.Met1355Val) | |
| 10 | g.104034038T>G | CA378065054 | COL17A1 | c.3817A>C (p.Met1273Leu) c.93A>C c.4063A>C (p.Met1355Leu) | |
| 10 | g.104034039G>A | CA471341711 | COL17A1 | c.3816C>T (p.Gly1272=) c.92C>T c.4062C>T (p.Gly1354=) | dbSNP |
| 10 | g.104034039G>C | CA471341714 | COL17A1 | c.3816C>G (p.Gly1272=) c.92C>G c.4062C>G (p.Gly1354=) | |
| 10 | g.104034039G= | CA1933417947 | COL17A1 | c.3816C= (p.Gly1272=) c.92C= c.4062C= (p.Gly1354=) | |
| 10 | g.104034039G>T | CA471341712 | COL17A1 | c.3816C>A (p.Gly1272=) c.92C>A c.4062C>A (p.Gly1354=) | |
| 10 | g.104034040C>A | CA378065056 | COL17A1 | c.3815G>T (p.Gly1272Val) c.91G>T c.4061G>T (p.Gly1354Val) | |
| 10 | g.104034040C>G | CA378065057 | COL17A1 | c.3815G>C (p.Gly1272Ala) c.91G>C c.4061G>C (p.Gly1354Ala) | |
| 10 | g.104034040C>T | CA378065058 | COL17A1 | c.3815G>A (p.Gly1272Asp) c.91G>A c.4061G>A (p.Gly1354Asp) | |
| 10 | g.104034041del | CA2610796359 | COL17A1 | c.3815del (p.Gly1272AlafsTer25) c.91del c.4061del (p.Gly1354AlafsTer25) | gnomAD v4 |
| 10 | g.104034041C>A | CA378065059 | COL17A1 | c.3814G>T (p.Gly1272Cys) c.90G>T c.4060G>T (p.Gly1354Cys) | gnomAD v4 |
| 10 | g.104034041C= | CA1933417950 | COL17A1 | c.3814G= (p.Gly1272=) c.90G= c.4060G= (p.Gly1354=) | |
| 10 | g.104034041C>G | CA378065060 | COL17A1 | c.3814G>C (p.Gly1272Arg) c.90G>C c.4060G>C (p.Gly1354Arg) | gnomAD v4 |
| 10 | g.104034041C>T | CA5677726 | COL17A1 | c.3814G>A (p.Gly1272Ser) c.90G>A c.4060G>A (p.Gly1354Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034042G>A | CA5677727 | COL17A1 | c.3813C>T (p.Gly1271=) c.89C>T c.4059C>T (p.Gly1353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034042G>C | CA471341724 | COL17A1 | c.3813C>G (p.Gly1271=) c.89C>G c.4059C>G (p.Gly1353=) | |
| 10 | g.104034042G= | CA1933417956 | COL17A1 | c.3813C= (p.Gly1271=) c.89C= c.4059C= (p.Gly1353=) | |
| 10 | g.104034042G>T | CA471341726 | COL17A1 | c.3813C>A (p.Gly1271=) c.89C>A c.4059C>A (p.Gly1353=) | |
| 10 | g.104034043C>A | CA378065061 | COL17A1 | c.3812G>T (p.Gly1271Val) c.88G>T c.4058G>T (p.Gly1353Val) | |
| 10 | g.104034043C>G | CA378065062 | COL17A1 | c.3812G>C (p.Gly1271Ala) c.88G>C c.4058G>C (p.Gly1353Ala) | |
| 10 | g.104034043C>T | CA378065063 | COL17A1 | c.3812G>A (p.Gly1271Asp) c.88G>A c.4058G>A (p.Gly1353Asp) | gnomAD v4 |
| 10 | g.104034044C>A | CA378065064 | COL17A1 | c.3811G>T (p.Gly1271Cys) c.87G>T c.4057G>T (p.Gly1353Cys) | dbSNP gnomAD v2 |
| 10 | g.104034044C= | CA1933417960 | COL17A1 | c.3811G= (p.Gly1271=) c.87G= c.4057G= (p.Gly1353=) | |
| 10 | g.104034044C>G | CA378065065 | COL17A1 | c.3811G>C (p.Gly1271Arg) c.87G>C c.4057G>C (p.Gly1353Arg) | |
| 10 | g.104034044C>T | CA378065066 | COL17A1 | c.3811G>A (p.Gly1271Ser) c.87G>A c.4057G>A (p.Gly1353Ser) | gnomAD v4 |
| 10 | g.104034045T>A | CA378065068 | COL17A1 | c.3810A>T (p.Glu1270Asp) c.86A>T c.4056A>T (p.Glu1352Asp) | |
| 10 | g.104034045T>C | CA471341738 | COL17A1 | c.3810A>G (p.Glu1270=) c.86A>G c.4056A>G (p.Glu1352=) | |
| 10 | g.104034045T>G | CA378065067 | COL17A1 | c.3810A>C (p.Glu1270Asp) c.86A>C c.4056A>C (p.Glu1352Asp) | gnomAD v4 |
| 10 | g.104034045_104034048del | CA2610796360 | COL17A1 | c.3807_3810del (p.Glu1270AlafsTer26) c.83_86del c.4053_4056del (p.Glu1352AlafsTer26) | gnomAD v4 |
| 10 | g.104034046T>A | CA378065069 | COL17A1 | c.3809A>T (p.Glu1270Val) c.85A>T c.4055A>T (p.Glu1352Val) | dbSNP gnomAD v4 |
| 10 | g.104034046T>C | CA378065071 | COL17A1 | c.3809A>G (p.Glu1270Gly) c.85A>G c.4055A>G (p.Glu1352Gly) | |
| 10 | g.104034046T>G | CA378065070 | COL17A1 | c.3809A>C (p.Glu1270Ala) c.85A>C c.4055A>C (p.Glu1352Ala) | |
| 10 | g.104034046T= | CA1933417964 | COL17A1 | c.3809A= (p.Glu1270=) c.85A= c.4055A= (p.Glu1352=) | |
| 10 | g.104034047C>A | CA378065072 | COL17A1 | c.3808G>T (p.Glu1270Ter) c.84G>T c.4054G>T (p.Glu1352Ter) | |
| 10 | g.104034047C= | CA1933417970 | COL17A1 | c.3808G= (p.Glu1270=) c.84G= c.4054G= (p.Glu1352=) | |
| 10 | g.104034047C>G | CA378065073 | COL17A1 | c.3808G>C (p.Glu1270Gln) c.84G>C c.4054G>C (p.Glu1352Gln) | |
| 10 | g.104034047C>T | CA5677728 | COL17A1 | c.3808G>A (p.Glu1270Lys) c.84G>A c.4054G>A (p.Glu1352Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104034054_104034056del | CA912966479 | COL17A1 | c.3806_3808del (p.Ala1269del) c.82_84del c.4052_4054del (p.Ala1351del) | gnomAD v4 |
| 10 | g.104034048T>A | CA471341749 | COL17A1 | c.3807A>T (p.Ala1269=) c.83A>T c.4053A>T (p.Ala1351=) | ClinVar dbSNP |
| 10 | g.104034048T>C | CA471341751 | COL17A1 | c.3807A>G (p.Ala1269=) c.83A>G c.4053A>G (p.Ala1351=) | |
| 10 | g.104034048T>G | CA471341752 | COL17A1 | c.3807A>C (p.Ala1269=) c.83A>C c.4053A>C (p.Ala1351=) | |
| 10 | g.104034048T= | CA1933417972 | COL17A1 | c.3807A= (p.Ala1269=) c.83A= c.4053A= (p.Ala1351=) | |
| 10 | g.104034049G>A | CA378065074 | COL17A1 | c.3806C>T (p.Ala1269Val) c.82C>T c.4052C>T (p.Ala1351Val) | |
| 10 | g.104034049G>C | CA378065075 | COL17A1 | c.3806C>G (p.Ala1269Gly) c.82C>G c.4052C>G (p.Ala1351Gly) | |
| 10 | g.104034049G>T | CA378065076 | COL17A1 | c.3806C>A (p.Ala1269Glu) c.82C>A c.4052C>A (p.Ala1351Glu) | |
| 10 | g.104034050C>A | CA378065077 | COL17A1 | c.3805G>T (p.Ala1269Ser) c.81G>T c.4051G>T (p.Ala1351Ser) | |
| 10 | g.104034050C= | CA1933417976 | COL17A1 | c.3805G= (p.Ala1269=) c.81G= c.4051G= (p.Ala1351=) | |
| 10 | g.104034050C>G | CA378065078 | COL17A1 | c.3805G>C (p.Ala1269Pro) c.81G>C c.4051G>C (p.Ala1351Pro) | gnomAD v4 |
| 10 | g.104034050C>T | CA378065079 | COL17A1 | c.3805G>A (p.Ala1269Thr) c.81G>A c.4051G>A (p.Ala1351Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034050_104034051delinsCT | CA1933417975 | COL17A1 | c.3804_3805delinsAG (p.Ala1268=) c.80_81delinsAG c.4050_4051delinsAG (p.Ala1350=) | |
| 10 | g.104034051del | CA10603215 | COL17A1 | c.3804del (p.Ala1269GlnfsTer28) c.80del c.4050del (p.Ala1351GlnfsTer28) | ClinVar dbSNP |
| 10 | g.104034051T>A | CA471341759 | COL17A1 | c.3804A>T (p.Ala1268=) c.80A>T c.4050A>T (p.Ala1350=) | |
| 10 | g.104034051T>C | CA471341761 | COL17A1 | c.3804A>G (p.Ala1268=) c.80A>G c.4050A>G (p.Ala1350=) | |
| 10 | g.104034051T>G | CA471341762 | COL17A1 | c.3804A>C (p.Ala1268=) c.80A>C c.4050A>C (p.Ala1350=) | |
| 10 | g.104034051_104034052delinsTG | CA1933417984 | COL17A1 | c.3803_3804delinsCA (p.Ala1268=) c.79_80delinsCA c.4049_4050delinsCA (p.Ala1350=) | |
| 10 | g.104034052del | CA659193750 | COL17A1 | c.3803del (p.Ala1268GlufsTer29) c.79del c.4049del (p.Ala1350GlufsTer29) | dbSNP |
| 10 | g.104034052G>A | CA5677729 | COL17A1 | c.3803C>T (p.Ala1268Val) c.79C>T c.4049C>T (p.Ala1350Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034052G>C | CA378065080 | COL17A1 | c.3803C>G (p.Ala1268Gly) c.79C>G c.4049C>G (p.Ala1350Gly) | |
| 10 | g.104034052G= | CA1933417991 | COL17A1 | c.3803C= (p.Ala1268=) c.79C= c.4049C= (p.Ala1350=) | |
| 10 | g.104034052G>T | CA378065081 | COL17A1 | c.3803C>A (p.Ala1268Glu) c.79C>A c.4049C>A (p.Ala1350Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034053C>A | CA378065084 | COL17A1 | c.3802G>T (p.Ala1268Ser) c.78G>T c.4048G>T (p.Ala1350Ser) | |
| 10 | g.104034053C>G | CA378065082 | COL17A1 | c.3802G>C (p.Ala1268Pro) c.78G>C c.4048G>C (p.Ala1350Pro) | |
| 10 | g.104034053C>T | CA378065083 | COL17A1 | c.3802G>A (p.Ala1268Thr) c.78G>A c.4048G>A (p.Ala1350Thr) | |
| 10 | g.104034054T>A | CA471341771 | COL17A1 | c.3801A>T (p.Ala1267=) c.77A>T c.4047A>T (p.Ala1349=) | |
| 10 | g.104034054T>C | CA471341773 | COL17A1 | c.3801A>G (p.Ala1267=) c.77A>G c.4047A>G (p.Ala1349=) | |
| 10 | g.104034054T>G | CA471341770 | COL17A1 | c.3801A>C (p.Ala1267=) c.77A>C c.4047A>C (p.Ala1349=) | |
| 10 | g.104034055G>A | CA378065085 | COL17A1 | c.3800C>T (p.Ala1267Val) c.76C>T c.4046C>T (p.Ala1349Val) | |
| 10 | g.104034055G>C | CA378065086 | COL17A1 | c.3800C>G (p.Ala1267Gly) c.76C>G c.4046C>G (p.Ala1349Gly) | |
| 10 | g.104034055G>T | CA378065087 | COL17A1 | c.3800C>A (p.Ala1267Glu) c.76C>A c.4046C>A (p.Ala1349Glu) | |
| 10 | g.104034056C>A | CA378065088 | COL17A1 | c.3799G>T (p.Ala1267Ser) c.75G>T c.4045G>T (p.Ala1349Ser) | |
| 10 | g.104034056C= | CA1933417993 | COL17A1 | c.3799G= (p.Ala1267=) c.75G= c.4045G= (p.Ala1349=) | |
| 10 | g.104034056C>G | CA378065089 | COL17A1 | c.3799G>C (p.Ala1267Pro) c.75G>C c.4045G>C (p.Ala1349Pro) | |
| 10 | g.104034056C>T | CA378065090 | COL17A1 | c.3799G>A (p.Ala1267Thr) c.75G>A c.4045G>A (p.Ala1349Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034059dup | CA2580081223 | COL17A1 | c.3799dup (p.Ala1267GlyfsTer18) c.75dup c.4045dup (p.Ala1349GlyfsTer18) | ClinVar |
| 10 | g.104034057C>A | CA471341780 | COL17A1 | c.3798G>T (p.Gly1266=) c.74G>T c.4044G>T (p.Gly1348=) | gnomAD v4 |
| 10 | g.104034057C= | CA1933417996 | COL17A1 | c.3798G= (p.Gly1266=) c.74G= c.4044G= (p.Gly1348=) | |
| 10 | g.104034057C>G | CA471341782 | COL17A1 | c.3798G>C (p.Gly1266=) c.74G>C c.4044G>C (p.Gly1348=) | |
| 10 | g.104034057C>T | CA471341784 | COL17A1 | c.3798G>A (p.Gly1266=) c.74G>A c.4044G>A (p.Gly1348=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104034058C>A | CA378065091 | COL17A1 | c.3797G>T (p.Gly1266Val) c.73G>T c.4043G>T (p.Gly1348Val) | |
| 10 | g.104034058C= | CA1933418001 | COL17A1 | c.3797G= (p.Gly1266=) c.73G= c.4043G= (p.Gly1348=) | |
| 10 | g.104034058C>G | CA5677730 | COL17A1 | c.3797G>C (p.Gly1266Ala) c.73G>C c.4043G>C (p.Gly1348Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104034058C>T | CA378065092 | COL17A1 | c.3797G>A (p.Gly1266Glu) c.73G>A c.4043G>A (p.Gly1348Glu) | dbSNP gnomAD v4 COSMIC |
| 10 | g.104034059C>A | CA378065093 | COL17A1 | c.3796G>T (p.Gly1266Trp) c.72G>T c.4042G>T (p.Gly1348Trp) | |
| 10 | g.104034059C>G | CA378065094 | COL17A1 | c.3796G>C (p.Gly1266Arg) c.72G>C c.4042G>C (p.Gly1348Arg) | |
| 10 | g.104034059C>T | CA378065095 | COL17A1 | c.3796G>A (p.Gly1266Arg) c.72G>A c.4042G>A (p.Gly1348Arg) | gnomAD v4 |
| 10 | g.104034060A= | CA1933418004 | COL17A1 | c.3795T= (p.Tyr1265=) c.71T= c.4041T= (p.Tyr1347=) | |
| 10 | g.104034060A>C | CA378065096 | COL17A1 | c.3795T>G (p.Tyr1265Ter) c.71T>G c.4041T>G (p.Tyr1347Ter) | ClinVar dbSNP |
| 10 | g.104034060A>G | CA212449922 | COL17A1 | c.3795T>C (p.Tyr1265=) c.71T>C c.4041T>C (p.Tyr1347=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034060A>T | CA378065097 | COL17A1 | c.3795T>A (p.Tyr1265Ter) c.71T>A c.4041T>A (p.Tyr1347Ter) | |
| 10 | g.104034061T>A | CA212449924 | COL17A1 | c.3794A>T (p.Tyr1265Phe) c.70A>T c.4040A>T (p.Tyr1347Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034061T>C | CA378065098 | COL17A1 | c.3794A>G (p.Tyr1265Cys) c.70A>G c.4040A>G (p.Tyr1347Cys) | gnomAD v4 |
| 10 | g.104034061T>G | CA378065099 | COL17A1 | c.3794A>C (p.Tyr1265Ser) c.70A>C c.4040A>C (p.Tyr1347Ser) | |
| 10 | g.104034061T= | CA1933418009 | COL17A1 | c.3794A= (p.Tyr1265=) c.70A= c.4040A= (p.Tyr1347=) | |
| 10 | g.104034062A>C | CA378065100 | COL17A1 | c.3793T>G (p.Tyr1265Asp) c.69T>G c.4039T>G (p.Tyr1347Asp) | |
| 10 | g.104034062A>G | CA378065101 | COL17A1 | c.3793T>C (p.Tyr1265His) c.69T>C c.4039T>C (p.Tyr1347His) | |
| 10 | g.104034062A>T | CA378065102 | COL17A1 | c.3793T>A (p.Tyr1265Asn) c.69T>A c.4039T>A (p.Tyr1347Asn) | |
| 10 | g.104034063G>A | CA471341800 | COL17A1 | c.3792C>T (p.Gly1264=) c.68C>T c.4038C>T (p.Gly1346=) | |
| 10 | g.104034063G>C | CA471341802 | COL17A1 | c.3792C>G (p.Gly1264=) c.68C>G c.4038C>G (p.Gly1346=) | |
| 10 | g.104034063G>T | CA471341803 | COL17A1 | c.3792C>A (p.Gly1264=) c.68C>A c.4038C>A (p.Gly1346=) | |
| 10 | g.104034064C>A | CA378065103 | COL17A1 | c.3791G>T (p.Gly1264Val) c.67G>T c.4037G>T (p.Gly1346Val) | |
| 10 | g.104034064C= | CA1933418012 | COL17A1 | c.3791G= (p.Gly1264=) c.67G= c.4037G= (p.Gly1346=) | |
| 10 | g.104034064C>G | CA378065104 | COL17A1 | c.3791G>C (p.Gly1264Ala) c.67G>C c.4037G>C (p.Gly1346Ala) | gnomAD v4 |
| 10 | g.104034064C>T | CA378065105 | COL17A1 | c.3791G>A (p.Gly1264Asp) c.67G>A c.4037G>A (p.Gly1346Asp) | dbSNP |
| 10 | g.104034065C>A | CA378065106 | COL17A1 | c.3790G>T (p.Gly1264Cys) c.66G>T c.4036G>T (p.Gly1346Cys) | |
| 10 | g.104034065C= | CA1933418015 | COL17A1 | c.3790G= (p.Gly1264=) c.66G= c.4036G= (p.Gly1346=) | |
| 10 | g.104034065C>G | CA378065107 | COL17A1 | c.3790G>C (p.Gly1264Arg) c.66G>C c.4036G>C (p.Gly1346Arg) | |
| 10 | g.104034065C>T | CA5677731 | COL17A1 | c.3790G>A (p.Gly1264Ser) c.66G>A c.4036G>A (p.Gly1346Ser) | dbSNP ExAC |
| 10 | g.104034066T>A | CA471341812 | COL17A1 | c.3789A>T (p.Gly1263=) c.65A>T c.4035A>T (p.Gly1345=) | |
| 10 | g.104034066T>C | CA471341813 | COL17A1 | c.3789A>G (p.Gly1263=) c.65A>G c.4035A>G (p.Gly1345=) | |
| 10 | g.104034066T>G | CA471341815 | COL17A1 | c.3789A>C (p.Gly1263=) c.65A>C c.4035A>C (p.Gly1345=) |