| 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.104064575G>A | CA5679345 | COL17A1 | c.629C>T (p.Thr210Met) n.744C>T c.581C>T (p.Thr194Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064575G>C | CA378077644 | COL17A1 | c.629C>G (p.Thr210Arg) n.744C>G c.581C>G (p.Thr194Arg) | |
| 10 | g.104064575G= | CA1933374537 | COL17A1 | c.629C= (p.Thr210=) n.744C= c.581C= (p.Thr194=) | |
| 10 | g.104064575G>T | CA378077646 | COL17A1 | c.629C>A (p.Thr210Lys) n.744C>A c.581C>A (p.Thr194Lys) | |
| 10 | g.104064576T>A | CA378077651 | COL17A1 | c.628A>T (p.Thr210Ser) n.743A>T c.580A>T (p.Thr194Ser) | |
| 10 | g.104064576T>C | CA378077652 | COL17A1 | c.628A>G (p.Thr210Ala) n.743A>G c.580A>G (p.Thr194Ala) | |
| 10 | g.104064576T>G | CA378077655 | COL17A1 | c.628A>C (p.Thr210Pro) n.743A>C c.580A>C (p.Thr194Pro) | gnomAD v4 |
| 10 | g.104064577T>A | CA471338891 | COL17A1 | c.627A>T (p.Ala209=) n.742A>T c.579A>T (p.Ala193=) | |
| 10 | g.104064577T>C | CA471338892 | COL17A1 | c.627A>G (p.Ala209=) n.742A>G c.579A>G (p.Ala193=) | gnomAD v4 |
| 10 | g.104064577T>G | CA471338893 | COL17A1 | c.627A>C (p.Ala209=) n.742A>C c.579A>C (p.Ala193=) | |
| 10 | g.104064578G>A | CA378077657 | COL17A1 | c.626C>T (p.Ala209Val) n.741C>T c.578C>T (p.Ala193Val) | |
| 10 | g.104064578G>C | CA378077658 | COL17A1 | c.626C>G (p.Ala209Gly) n.741C>G c.578C>G (p.Ala193Gly) | |
| 10 | g.104064578G= | CA1933374538 | COL17A1 | c.626C= (p.Ala209=) n.741C= c.578C= (p.Ala193=) | |
| 10 | g.104064578G>T | CA378077661 | COL17A1 | c.626C>A (p.Ala209Glu) n.741C>A c.578C>A (p.Ala193Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104064579C>A | CA378077666 | COL17A1 | c.625G>T (p.Ala209Ser) n.740G>T c.577G>T (p.Ala193Ser) | |
| 10 | g.104064579C= | CA1933374539 | COL17A1 | c.625G= (p.Ala209=) n.740G= c.577G= (p.Ala193=) | |
| 10 | g.104064579C>G | CA378077668 | COL17A1 | c.625G>C (p.Ala209Pro) n.740G>C c.577G>C (p.Ala193Pro) | |
| 10 | g.104064579C>T | CA378077664 | COL17A1 | c.625G>A (p.Ala209Thr) n.740G>A c.577G>A (p.Ala193Thr) | dbSNP gnomAD v2 |
| 10 | g.104064580A>C | CA378077671 | COL17A1 | c.624T>G (p.Asp208Glu) n.739T>G c.576T>G (p.Asp192Glu) | |
| 10 | g.104064580A>G | CA471338896 | COL17A1 | c.624T>C (p.Asp208=) n.739T>C c.576T>C (p.Asp192=) | gnomAD v4 |
| 10 | g.104064580A>T | CA378077673 | COL17A1 | c.624T>A (p.Asp208Glu) n.739T>A c.576T>A (p.Asp192Glu) | |
| 10 | g.104064581T>A | CA378077676 | COL17A1 | c.623A>T (p.Asp208Val) n.738A>T c.575A>T (p.Asp192Val) | |
| 10 | g.104064581T>C | CA378077679 | COL17A1 | c.623A>G (p.Asp208Gly) n.738A>G c.575A>G (p.Asp192Gly) | |
| 10 | g.104064581T>G | CA378077680 | COL17A1 | c.623A>C (p.Asp208Ala) n.738A>C c.575A>C (p.Asp192Ala) | |
| 10 | g.104064582C>A | CA378077683 | COL17A1 | c.622G>T (p.Asp208Tyr) n.737G>T c.574G>T (p.Asp192Tyr) | gnomAD v4 |
| 10 | g.104064582C= | CA1933374540 | COL17A1 | c.622G= (p.Asp208=) n.737G= c.574G= (p.Asp192=) | |
| 10 | g.104064582C>G | CA378077686 | COL17A1 | c.622G>C (p.Asp208His) n.737G>C c.574G>C (p.Asp192His) | |
| 10 | g.104064582C>T | CA5679346 | COL17A1 | c.622G>A (p.Asp208Asn) n.737G>A c.574G>A (p.Asp192Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064583G>A | CA5679347 | COL17A1 | c.621C>T (p.Tyr207=) n.736C>T c.573C>T (p.Tyr191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064583G>C | CA378077690 | COL17A1 | c.621C>G (p.Tyr207Ter) n.736C>G c.573C>G (p.Tyr191Ter) | |
| 10 | g.104064583G= | CA1933374541 | COL17A1 | c.621C= (p.Tyr207=) n.736C= c.573C= (p.Tyr191=) | |
| 10 | g.104064583G>T | CA378077692 | COL17A1 | c.621C>A (p.Tyr207Ter) n.736C>A c.573C>A (p.Tyr191Ter) | gnomAD v4 |
| 10 | g.104064584T>A | CA378077697 | COL17A1 | c.620A>T (p.Tyr207Phe) n.735A>T c.572A>T (p.Tyr191Phe) | |
| 10 | g.104064584T>C | CA378077698 | COL17A1 | c.620A>G (p.Tyr207Cys) n.735A>G c.572A>G (p.Tyr191Cys) | |
| 10 | g.104064584T>G | CA378077695 | COL17A1 | c.620A>C (p.Tyr207Ser) n.735A>C c.572A>C (p.Tyr191Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104064584T= | CA1933374542 | COL17A1 | c.620A= (p.Tyr207=) n.735A= c.572A= (p.Tyr191=) | |
| 10 | g.104064585A>C | CA378077700 | COL17A1 | c.619T>G (p.Tyr207Asp) n.734T>G c.571T>G (p.Tyr191Asp) | |
| 10 | g.104064585A>G | CA378077703 | COL17A1 | c.619T>C (p.Tyr207His) n.734T>C c.571T>C (p.Tyr191His) | |
| 10 | g.104064585A>T | CA378077704 | COL17A1 | c.619T>A (p.Tyr207Asn) n.734T>A c.571T>A (p.Tyr191Asn) | |
| 10 | g.104064586G>A | CA5679348 | COL17A1 | c.618C>T (p.Thr206=) n.733C>T c.570C>T (p.Thr190=) | dbSNP ExAC gnomAD v2 |
| 10 | g.104064586G>C | CA471338905 | COL17A1 | c.618C>G (p.Thr206=) n.733C>G c.570C>G (p.Thr190=) | |
| 10 | g.104064586G= | CA1933374543 | COL17A1 | c.618C= (p.Thr206=) n.733C= c.570C= (p.Thr190=) | |
| 10 | g.104064586G>T | CA5679349 | COL17A1 | c.618C>A (p.Thr206=) n.733C>A c.570C>A (p.Thr190=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |