| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104064465_104064476del | CA2558370641 | COL17A1 | c.728_739del (p.Ser243_Asn247delinsTyr) n.843_854del c.680_691del (p.Ser227_Asn231delinsTyr) n.73_84del | |
| 10 | g.104064475T>A | CA471338816 | COL17A1 | c.729A>T (p.Ser243=) n.844A>T c.681A>T (p.Ser227=) n.74A>T | |
| 10 | g.104064475T>C | CA471338817 | COL17A1 | c.729A>G (p.Ser243=) n.844A>G c.681A>G (p.Ser227=) n.74A>G | |
| 10 | g.104064475T>G | CA471338815 | COL17A1 | c.729A>C (p.Ser243=) n.844A>C c.681A>C (p.Ser227=) n.74A>C | |
| 10 | g.104064476G>A | CA378077244 | COL17A1 | c.728C>T (p.Ser243Leu) n.843C>T c.680C>T (p.Ser227Leu) n.73C>T | |
| 10 | g.104064476G>C | CA378077246 | COL17A1 | c.728C>G (p.Ser243Ter) n.843C>G c.680C>G (p.Ser227Ter) n.73C>G | |
| 10 | g.104064476G>T | CA378077248 | COL17A1 | c.728C>A (p.Ser243Ter) n.843C>A c.680C>A (p.Ser227Ter) n.73C>A | COSMIC |
| 10 | g.104064477A>C | CA378077249 | COL17A1 | c.727T>G (p.Ser243Ala) n.842T>G c.679T>G (p.Ser227Ala) n.72T>G | |
| 10 | g.104064477A>G | CA378077251 | COL17A1 | c.727T>C (p.Ser243Pro) n.842T>C c.679T>C (p.Ser227Pro) n.72T>C | |
| 10 | g.104064477A>T | CA378077253 | COL17A1 | c.727T>A (p.Ser243Thr) n.842T>A c.679T>A (p.Ser227Thr) n.72T>A | |
| 10 | g.104064478G>A | CA471338818 | COL17A1 | c.726C>T (p.Ser242=) n.841C>T c.678C>T (p.Ser226=) n.71C>T | COSMIC |
| 10 | g.104064478G>C | CA378077256 | COL17A1 | c.726C>G (p.Ser242Arg) n.841C>G c.678C>G (p.Ser226Arg) n.71C>G | |
| 10 | g.104064478G>T | CA378077255 | COL17A1 | c.726C>A (p.Ser242Arg) n.841C>A c.678C>A (p.Ser226Arg) n.71C>A | gnomAD v4 |
| 10 | g.104064479C>A | CA378077258 | COL17A1 | c.725G>T (p.Ser242Ile) n.840G>T c.677G>T (p.Ser226Ile) n.70G>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104064479C= | CA1933374483 | COL17A1 | c.725G= (p.Ser242=) n.840G= c.677G= (p.Ser226=) n.70G= | |
| 10 | g.104064479C>G | CA378077260 | COL17A1 | c.725G>C (p.Ser242Thr) n.840G>C c.677G>C (p.Ser226Thr) n.70G>C | |
| 10 | g.104064479C>T | CA378077261 | COL17A1 | c.725G>A (p.Ser242Asn) n.840G>A c.677G>A (p.Ser226Asn) n.70G>A | |
| 10 | g.104064480T>A | CA378077263 | COL17A1 | c.724A>T (p.Ser242Cys) n.839A>T c.676A>T (p.Ser226Cys) n.69A>T | |
| 10 | g.104064480T>C | CA378077265 | COL17A1 | c.724A>G (p.Ser242Gly) n.839A>G c.676A>G (p.Ser226Gly) n.69A>G | |
| 10 | g.104064480T>G | CA378077267 | COL17A1 | c.724A>C (p.Ser242Arg) n.839A>C c.676A>C (p.Ser226Arg) n.69A>C | |
| 10 | g.104064481C>A | CA378077269 | COL17A1 | c.723G>T (p.Gln241His) n.838G>T c.675G>T (p.Gln225His) n.68G>T | |
| 10 | g.104064481C= | CA1933374484 | COL17A1 | c.723G= (p.Gln241=) n.838G= c.675G= (p.Gln225=) n.68G= | |
| 10 | g.104064481C>G | CA378077270 | COL17A1 | c.723G>C (p.Gln241His) n.838G>C c.675G>C (p.Gln225His) n.68G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064481C>T | CA5679321 | COL17A1 | c.723G>A (p.Gln241=) n.838G>A c.675G>A (p.Gln225=) n.68G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104064482T>A | CA378077273 | COL17A1 | c.722A>T (p.Gln241Leu) n.837A>T c.674A>T (p.Gln225Leu) n.67A>T | |
| 10 | g.104064482T>C | CA378077274 | COL17A1 | c.722A>G (p.Gln241Arg) n.837A>G c.674A>G (p.Gln225Arg) n.67A>G | gnomAD v4 |
| 10 | g.104064482T>G | CA378077275 | COL17A1 | c.722A>C (p.Gln241Pro) n.837A>C c.674A>C (p.Gln225Pro) n.67A>C | |
| 10 | g.104064483G>A | CA378077279 | COL17A1 | c.721C>T (p.Gln241Ter) n.836C>T c.673C>T (p.Gln225Ter) n.66C>T | |
| 10 | g.104064483G>C | CA378077281 | COL17A1 | c.721C>G (p.Gln241Glu) n.836C>G c.673C>G (p.Gln225Glu) n.66C>G | |
| 10 | g.104064483G>T | CA378077277 | COL17A1 | c.721C>A (p.Gln241Lys) n.836C>A c.673C>A (p.Gln225Lys) n.66C>A | |
| 10 | g.104064484G>A | CA471338819 | COL17A1 | c.720C>T (p.Thr240=) n.835C>T c.672C>T (p.Thr224=) n.65C>T | gnomAD v4 |
| 10 | g.104064484G>C | CA471338821 | COL17A1 | c.720C>G (p.Thr240=) n.835C>G c.672C>G (p.Thr224=) n.65C>G | |
| 10 | g.104064484G>T | CA471338820 | COL17A1 | c.720C>A (p.Thr240=) n.835C>A c.672C>A (p.Thr224=) n.65C>A | |
| 10 | g.104064485G>A | CA5679322 | COL17A1 | c.719C>T (p.Thr240Ile) n.834C>T c.671C>T (p.Thr224Ile) n.64C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064485G>C | CA378077282 | COL17A1 | c.719C>G (p.Thr240Ser) n.834C>G c.671C>G (p.Thr224Ser) n.64C>G | |
| 10 | g.104064485G= | CA1933374485 | COL17A1 | c.719C= (p.Thr240=) n.834C= c.671C= (p.Thr224=) n.64C= | |
| 10 | g.104064485G>T | CA378077284 | COL17A1 | c.719C>A (p.Thr240Asn) n.834C>A c.671C>A (p.Thr224Asn) n.64C>A | gnomAD v4 |
| 10 | g.104064486T>A | CA378077287 | COL17A1 | c.718A>T (p.Thr240Ser) n.833A>T c.670A>T (p.Thr224Ser) n.63A>T | |
| 10 | g.104064486T>C | CA378077288 | COL17A1 | c.718A>G (p.Thr240Ala) n.833A>G c.670A>G (p.Thr224Ala) n.63A>G | |
| 10 | g.104064486T>G | CA378077290 | COL17A1 | c.718A>C (p.Thr240Pro) n.833A>C c.670A>C (p.Thr224Pro) n.63A>C | |
| 10 | g.104064487del | CA2695212701 | COL17A1 | c.718del (p.Thr240ProfsTer?) n.833del c.670del (p.Thr224ProfsTer?) n.63del | |
| 10 | g.104064487T>A | CA471338822 | COL17A1 | c.717A>T (p.Thr239=) n.832A>T c.669A>T (p.Thr223=) n.62A>T | |
| 10 | g.104064487T>C | CA471338823 | COL17A1 | c.717A>G (p.Thr239=) n.832A>G c.669A>G (p.Thr223=) n.62A>G | |
| 10 | g.104064487T>G | CA471338824 | COL17A1 | c.717A>C (p.Thr239=) n.832A>C c.669A>C (p.Thr223=) n.62A>C | |
| 10 | g.104064488G>A | CA378077294 | COL17A1 | c.716C>T (p.Thr239Ile) n.831C>T c.668C>T (p.Thr223Ile) n.61C>T | |
| 10 | g.104064488G>C | CA378077293 | COL17A1 | c.716C>G (p.Thr239Arg) n.831C>G c.668C>G (p.Thr223Arg) n.61C>G | |
| 10 | g.104064488G>T | CA378077292 | COL17A1 | c.716C>A (p.Thr239Lys) n.831C>A c.668C>A (p.Thr223Lys) n.61C>A | gnomAD v4 |
| 10 | g.104064489T>A | CA378077296 | COL17A1 | c.715A>T (p.Thr239Ser) n.830A>T c.667A>T (p.Thr223Ser) n.60A>T | gnomAD v4 |
| 10 | g.104064489T>C | CA378077298 | COL17A1 | c.715A>G (p.Thr239Ala) n.830A>G c.667A>G (p.Thr223Ala) n.60A>G | |
| 10 | g.104064489T>G | CA378077300 | COL17A1 | c.715A>C (p.Thr239Pro) n.830A>C c.667A>C (p.Thr223Pro) n.60A>C |