Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52488359_52488362dup | CA2618928177 | KRT6A | c.1393_1396dup (p.Arg466LeufsTer8) | gnomAD v4 |
12 | g.52488359A= | CA2036520316 | KRT6A | c.1393T= (p.Tyr465=) | |
12 | g.52488359A>C | CA384953362 | KRT6A | c.1393T>G (p.Tyr465Asp) | |
12 | g.52488359A>G | CA217335 | KRT6A | c.1393T>C (p.Tyr465His) | ClinVar dbSNP |
12 | g.52488359A>T | CA384953364 | KRT6A | c.1393T>A (p.Tyr465Asn) | |
12 | g.52488360G>A | CA479853048 | KRT6A | c.1392C>T (p.Thr464=) | |
12 | g.52488360G>C | CA479853050 | KRT6A | c.1392C>G (p.Thr464=) | |
12 | g.52488360G>T | CA479853049 | KRT6A | c.1392C>A (p.Thr464=) | |
12 | g.52488361G>A | CA384953366 | KRT6A | c.1391C>T (p.Thr464Ile) | |
12 | g.52488361G>C | CA384953368 | KRT6A | c.1391C>G (p.Thr464Ser) | |
12 | g.52488361G>T | CA384953369 | KRT6A | c.1391C>A (p.Thr464Asn) | |
12 | g.52488362T>A | CA384953375 | KRT6A | c.1390A>T (p.Thr464Ser) | |
12 | g.52488362T>C | CA384953373 | KRT6A | c.1390A>G (p.Thr464Ala) | |
12 | g.52488362T>G | CA217334 | KRT6A | c.1390A>C (p.Thr464Pro) | ClinVar dbSNP |
12 | g.52488362T= | CA2036520317 | KRT6A | c.1390A= (p.Thr464=) | |
12 | g.52488363G>A | CA479853051 | KRT6A | c.1389C>T (p.Ala463=) | |
12 | g.52488363G>C | CA479853052 | KRT6A | c.1389C>G (p.Ala463=) | |
12 | g.52488363G>T | CA479853053 | KRT6A | c.1389C>A (p.Ala463=) | |
12 | g.52488364G>A | CA384953378 | KRT6A | c.1388C>T (p.Ala463Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488364G>C | CA384953380 | KRT6A | c.1388C>G (p.Ala463Gly) | |
12 | g.52488364G= | CA2036520318 | KRT6A | c.1388C= (p.Ala463=) | |
12 | g.52488364G>T | CA384953382 | KRT6A | c.1388C>A (p.Ala463Asp) | |
12 | g.52488365C>A | CA384953384 | KRT6A | c.1387G>T (p.Ala463Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52488365C= | CA2036520319 | KRT6A | c.1387G= (p.Ala463=) | |
12 | g.52488365C>G | CA217333 | KRT6A | c.1387G>C (p.Ala463Pro) | ClinVar dbSNP |
12 | g.52488365C>T | CA384953386 | KRT6A | c.1387G>A (p.Ala463Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488366G>A | CA6581868 | KRT6A | c.1386C>T (p.Ile462=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52488366G>C | CA384953389 | KRT6A | c.1386C>G (p.Ile462Met) | |
12 | g.52488366G= | CA2036520320 | KRT6A | c.1386C= (p.Ile462=) | |
12 | g.52488366G>T | CA6581869 | KRT6A | c.1386C>A (p.Ile462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52488367A= | CA2036520321 | KRT6A | c.1385T= (p.Ile462=) | |
12 | g.52488367A>C | CA217332 | KRT6A | c.1385T>G (p.Ile462Ser) | ClinVar dbSNP |
12 | g.52488367A>G | CA384953392 | KRT6A | c.1385T>C (p.Ile462Thr) | |
12 | g.52488367A>T | CA217331 | KRT6A | c.1385T>A (p.Ile462Asn) | ClinVar dbSNP |
12 | g.52488368T>A | CA384953398 | KRT6A | c.1384A>T (p.Ile462Phe) | |
12 | g.52488368T>C | CA384953396 | KRT6A | c.1384A>G (p.Ile462Val) | |
12 | g.52488368T>G | CA384953395 | KRT6A | c.1384A>C (p.Ile462Leu) | |
12 | g.52488369C>A | CA384953399 | KRT6A | c.1383G>T (p.Glu461Asp) | |
12 | g.52488369C= | CA2036520322 | KRT6A | c.1383G= (p.Glu461=) | |
12 | g.52488369C>G | CA384953401 | KRT6A | c.1383G>C (p.Glu461Asp) | |
12 | g.52488369C>T | CA479853054 | KRT6A | c.1383G>A (p.Glu461=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488370T>A | CA384953403 | KRT6A | c.1382A>T (p.Glu461Val) | |
12 | g.52488370T>C | CA384953405 | KRT6A | c.1382A>G (p.Glu461Gly) | |
12 | g.52488370T>G | CA384953407 | KRT6A | c.1382A>C (p.Glu461Ala) | |
12 | g.52488371C>A | CA384953408 | KRT6A | c.1381G>T (p.Glu461Ter) | ClinVar dbSNP |
12 | g.52488371C= | CA2036520323 | KRT6A | c.1381G= (p.Glu461=) | |
12 | g.52488371C>G | CA217329 | KRT6A | c.1381G>C (p.Glu461Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.52488371C>T | CA217327 | KRT6A | c.1381G>A (p.Glu461Lys) | ClinVar dbSNP |
12 | g.52488372C>A | CA479853055 | KRT6A | c.1380G>T (p.Val460=) | |
12 | g.52488372C= | CA2036520324 | KRT6A | c.1380G= (p.Val460=) |