| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104038409G>A | CA258050 | COL17A1 | c.2932C>T (p.Gln978Ter) c.3067C>T (p.Gln1023Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104038409G>C | CA378067378 | COL17A1 | c.2932C>G (p.Gln978Glu) c.3067C>G (p.Gln1023Glu) | |
| 10 | g.104038409G= | CA1933389951 | COL17A1 | c.2932C= (p.Gln978=) c.3067C= (p.Gln1023=) | |
| 10 | g.104038409G>T | CA378067379 | COL17A1 | c.2932C>A (p.Gln978Lys) c.3067C>A (p.Gln1023Lys) | COSMIC |
| 10 | g.104038410C>A | CA378067380 | COL17A1 | c.2931G>T (p.Met977Ile) c.3066G>T (p.Met1022Ile) | |
| 10 | g.104038410C>G | CA378067381 | COL17A1 | c.2931G>C (p.Met977Ile) c.3066G>C (p.Met1022Ile) | |
| 10 | g.104038410C>T | CA378067382 | COL17A1 | c.2931G>A (p.Met977Ile) c.3066G>A (p.Met1022Ile) | COSMIC |
| 10 | g.104038411A>C | CA378067383 | COL17A1 | c.2930T>G (p.Met977Arg) c.3065T>G (p.Met1022Arg) | |
| 10 | g.104038411A>G | CA378067384 | COL17A1 | c.2930T>C (p.Met977Thr) c.3065T>C (p.Met1022Thr) | |
| 10 | g.104038411A>T | CA378067385 | COL17A1 | c.2930T>A (p.Met977Lys) c.3065T>A (p.Met1022Lys) | |
| 10 | g.104038412T>A | CA378067386 | COL17A1 | c.2929A>T (p.Met977Leu) c.3064A>T (p.Met1022Leu) | |
| 10 | g.104038412T>C | CA378067387 | COL17A1 | c.2929A>G (p.Met977Val) c.3064A>G (p.Met1022Val) | |
| 10 | g.104038412T>G | CA378067388 | COL17A1 | c.2929A>C (p.Met977Leu) c.3064A>C (p.Met1022Leu) | gnomAD v4 |
| 10 | g.104038413G>A | CA471344738 | COL17A1 | c.2928C>T (p.Tyr976=) c.3063C>T (p.Tyr1021=) | dbSNP |
| 10 | g.104038413G>C | CA378067389 | COL17A1 | c.2928C>G (p.Tyr976Ter) c.3063C>G (p.Tyr1021Ter) | gnomAD v4 |
| 10 | g.104038413G= | CA1933389952 | COL17A1 | c.2928C= (p.Tyr976=) c.3063C= (p.Tyr1021=) | |
| 10 | g.104038413G>T | CA378067390 | COL17A1 | c.2928C>A (p.Tyr976Ter) c.3063C>A (p.Tyr1021Ter) | |
| 10 | g.104038414T>A | CA378067393 | COL17A1 | c.2927A>T (p.Tyr976Phe) c.3062A>T (p.Tyr1021Phe) | |
| 10 | g.104038414T>C | CA378067392 | COL17A1 | c.2927A>G (p.Tyr976Cys) c.3062A>G (p.Tyr1021Cys) | |
| 10 | g.104038414T>G | CA378067391 | COL17A1 | c.2927A>C (p.Tyr976Ser) c.3062A>C (p.Tyr1021Ser) | |
| 10 | g.104038415A>C | CA378067394 | COL17A1 | c.2926T>G (p.Tyr976Asp) c.3061T>G (p.Tyr1021Asp) | |
| 10 | g.104038415A>G | CA378067395 | COL17A1 | c.2926T>C (p.Tyr976His) c.3061T>C (p.Tyr1021His) | |
| 10 | g.104038415A>T | CA378067396 | COL17A1 | c.2926T>A (p.Tyr976Asn) c.3061T>A (p.Tyr1021Asn) | |
| 10 | g.104038416C>A | CA378067397 | COL17A1 | c.2925G>T (p.Glu975Asp) c.3060G>T (p.Glu1020Asp) | |
| 10 | g.104038416C>G | CA378067398 | COL17A1 | c.2925G>C (p.Glu975Asp) c.3060G>C (p.Glu1020Asp) | |
| 10 | g.104038416C>T | CA471344743 | COL17A1 | c.2925G>A (p.Glu975=) c.3060G>A (p.Glu1020=) | |
| 10 | g.104038417T>A | CA378067399 | COL17A1 | c.2924A>T (p.Glu975Val) c.3059A>T (p.Glu1020Val) | |
| 10 | g.104038417T>C | CA378067400 | COL17A1 | c.2924A>G (p.Glu975Gly) c.3059A>G (p.Glu1020Gly) | |
| 10 | g.104038417T>G | CA378067401 | COL17A1 | c.2924A>C (p.Glu975Ala) c.3059A>C (p.Glu1020Ala) | gnomAD v4 |
| 10 | g.104038418C>A | CA378067402 | COL17A1 | c.2923G>T (p.Glu975Ter) c.3058G>T (p.Glu1020Ter) | |
| 10 | g.104038418C>G | CA378067403 | COL17A1 | c.2923G>C (p.Glu975Gln) c.3058G>C (p.Glu1020Gln) | |
| 10 | g.104038418C>T | CA378067404 | COL17A1 | c.2923G>A (p.Glu975Lys) c.3058G>A (p.Glu1020Lys) | |
| 10 | g.104038419A>C | CA471344749 | COL17A1 | c.2922T>G (p.Ser974=) c.3057T>G (p.Ser1019=) | |
| 10 | g.104038419A>G | CA471344752 | COL17A1 | c.2922T>C (p.Ser974=) c.3057T>C (p.Ser1019=) | |
| 10 | g.104038419A>T | CA471344746 | COL17A1 | c.2922T>A (p.Ser974=) c.3057T>A (p.Ser1019=) | |
| 10 | g.104038420G>A | CA378067405 | COL17A1 | c.2921C>T (p.Ser974Phe) c.3056C>T (p.Ser1019Phe) | gnomAD v4 |
| 10 | g.104038420G>C | CA378067406 | COL17A1 | c.2921C>G (p.Ser974Cys) c.3056C>G (p.Ser1019Cys) | |
| 10 | g.104038420G>T | CA378067407 | COL17A1 | c.2921C>A (p.Ser974Tyr) c.3056C>A (p.Ser1019Tyr) | |
| 10 | g.104038421A>C | CA378067409 | COL17A1 | c.2920T>G (p.Ser974Ala) c.3055T>G (p.Ser1019Ala) | |
| 10 | g.104038421A>G | CA378067410 | COL17A1 | c.2920T>C (p.Ser974Pro) c.3055T>C (p.Ser1019Pro) | |
| 10 | g.104038421A>T | CA378067408 | COL17A1 | c.2920T>A (p.Ser974Thr) c.3055T>A (p.Ser1019Thr) | |
| 10 | g.104038422G>A | CA471344756 | COL17A1 | c.2919C>T (p.Ile973=) c.3054C>T (p.Ile1018=) | |
| 10 | g.104038422G>C | CA378067411 | COL17A1 | c.2919C>G (p.Ile973Met) c.3054C>G (p.Ile1018Met) | |
| 10 | g.104038422G>T | CA471344754 | COL17A1 | c.2919C>A (p.Ile973=) c.3054C>A (p.Ile1018=) | |
| 10 | g.104038423A>C | CA378067412 | COL17A1 | c.2918T>G (p.Ile973Ser) c.3053T>G (p.Ile1018Ser) | |
| 10 | g.104038423A>G | CA378067413 | COL17A1 | c.2918T>C (p.Ile973Thr) c.3053T>C (p.Ile1018Thr) | |
| 10 | g.104038423A>T | CA378067414 | COL17A1 | c.2918T>A (p.Ile973Asn) c.3053T>A (p.Ile1018Asn) | COSMIC |
| 10 | g.104038424T>A | CA378067415 | COL17A1 | c.2917A>T (p.Ile973Phe) c.3052A>T (p.Ile1018Phe) | |
| 10 | g.104038424T>C | CA378067416 | COL17A1 | c.2917A>G (p.Ile973Val) c.3052A>G (p.Ile1018Val) | |
| 10 | g.104038424T>G | CA378067417 | COL17A1 | c.2917A>C (p.Ile973Leu) c.3052A>C (p.Ile1018Leu) |