Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
10 | g.104064490C>A | CA378077301 | COL17A1 | c.714G>T (p.Met238Ile) n.829G>T c.666G>T (p.Met222Ile) n.59G>T | |
10 | g.104064490C= | CA1933374486 | COL17A1 | c.714G= (p.Met238=) n.829G= c.666G= (p.Met222=) n.59G= | |
10 | g.104064490C>G | CA378077303 | COL17A1 | c.714G>C (p.Met238Ile) n.829G>C c.666G>C (p.Met222Ile) n.59G>C | |
10 | g.104064490C>T | CA212425512 | COL17A1 | c.714G>A (p.Met238Ile) n.829G>A c.666G>A (p.Met222Ile) n.59G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104064490_104064491insGCCGT | CA2559023116 | COL17A1 | c.713_714insACGGC (p.Met238IlefsTer?) n.828_829insACGGC c.665_666insACGGC (p.Met222IlefsTer?) n.58_59insACGGC | |
10 | g.104064491A>C | CA378077304 | COL17A1 | c.713T>G (p.Met238Arg) n.828T>G c.665T>G (p.Met222Arg) n.58T>G | |
10 | g.104064491A>G | CA378077308 | COL17A1 | c.713T>C (p.Met238Thr) n.828T>C c.665T>C (p.Met222Thr) n.58T>C | |
10 | g.104064491A>T | CA378077306 | COL17A1 | c.713T>A (p.Met238Lys) n.828T>A c.665T>A (p.Met222Lys) n.58T>A | |
10 | g.104064492T>A | CA378077309 | COL17A1 | c.712A>T (p.Met238Leu) n.827A>T c.664A>T (p.Met222Leu) n.57A>T | |
10 | g.104064492T>C | CA378077310 | COL17A1 | c.712A>G (p.Met238Val) n.827A>G c.664A>G (p.Met222Val) n.57A>G |