1 |
KRT2 |
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) |
SNV |
Pathogenic
|
9309 |
rs137852628 |
GRCh37: 12:53040532-53040532 GRCh38: 12:52646748-52646748 |
2 |
KRT2 |
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro) |
SNV |
Pathogenic
|
9311 |
rs57510142 |
GRCh37: 12:53045385-53045385 GRCh38: 12:52651601-52651601 |
3 |
KRT2 |
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro) |
SNV |
Pathogenic
|
9312 |
rs137852630 |
GRCh37: 12:53040558-53040558 GRCh38: 12:52646774-52646774 |
4 |
KRT2 |
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr) |
SNV |
Pathogenic
|
9313 |
rs137852631 |
GRCh37: 12:53045371-53045371 GRCh38: 12:52651587-52651587 |
5 |
KRT2 |
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) |
SNV |
Pathogenic
|
9314 |
rs56829062 |
GRCh37: 12:53040567-53040567 GRCh38: 12:52646783-52646783 |
6 |
KRT2 |
NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) |
SNV |
Pathogenic
|
9315 |
rs137852631 |
GRCh37: 12:53045371-53045371 GRCh38: 12:52651587-52651587 |
7 |
KRT2 |
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) |
SNV |
Pathogenic
|
9316 |
rs137852632 |
GRCh37: 12:53045369-53045369 GRCh38: 12:52651585-52651585 |
8 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser) |
SNV |
Pathogenic
|
14569 |
rs60118264 |
GRCh37: 17:38978356-38978356 GRCh38: 17:40822104-40822104 |
9 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.460A>C (p.Asn154His) |
SNV |
Pathogenic
|
14571 |
rs57784225 |
GRCh37: 17:38978378-38978378 GRCh38: 17:40822126-40822126 |
10 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp) |
SNV |
Pathogenic
|
14572 |
rs58414354 |
GRCh37: 17:38978360-38978360 GRCh38: 17:40822108-40822108 |
11 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln) |
SNV |
Pathogenic
|
14575 |
rs58026994 |
GRCh37: 17:38975817-38975817 GRCh38: 17:40819565-40819565 |
12 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.449T>G (p.Met150Arg) |
SNV |
Pathogenic
|
14577 |
rs58901407 |
GRCh37: 17:38978389-38978389 GRCh38: 17:40822137-40822137 |
13 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu) |
SNV |
Pathogenic
|
14578 |
rs61434181 |
GRCh37: 17:38975827-38975827 GRCh38: 17:40819575-40819575 |
14 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.449T>C (p.Met150Thr) |
SNV |
Pathogenic
|
14579 |
rs58901407 |
GRCh37: 17:38978389-38978389 GRCh38: 17:40822137-40822137 |
15 |
KRT1 |
NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) |
SNV |
Pathogenic
|
15907 |
rs137853224 |
GRCh37: 12:53071466-53071466 GRCh38: 12:52677682-52677682 |
16 |
KRT1 |
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) |
SNV |
Pathogenic
|
15909 |
rs58420087 |
GRCh37: 12:53070089-53070089 GRCh38: 12:52676305-52676305 |
17 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter) |
SNV |
Pathogenic
|
29764 |
rs60035576 |
GRCh37: 17:38975842-38975842 GRCh38: 17:40819590-40819590 |
18 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.1281C>A (p.Cys427Ter) |
SNV |
Pathogenic
|
29765 |
rs387906640 |
GRCh37: 17:38975861-38975861 GRCh38: 17:40819609-40819609 |
19 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.1155+5G>A |
SNV |
Pathogenic
|
66159 |
rs267607381 |
GRCh37: 17:38976296-38976296 GRCh38: 17:40820044-40820044 |
20 |
KRT1 |
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) |
SNV |
Pathogenic
|
66659 |
rs61616632 |
GRCh37: 12:53072509-53072509 GRCh38: 12:52678725-52678725 |
21 |
KRT2 |
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) |
SNV |
Pathogenic
|
9310 |
rs137852629 |
GRCh37: 12:53040534-53040534 GRCh38: 12:52646750-52646750 |
22 |
KRT1 |
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) |
SNV |
Pathogenic
|
1698955 |
|
GRCh37: 12:53070101-53070101 GRCh38: 12:52676317-52676317 |
23 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) |
SNV |
Pathogenic
Pathogenic
|
14576 |
rs58852768 |
GRCh37: 17:38978372-38978372 GRCh38: 17:40822120-40822120 |
24 |
KRT1 |
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) |
SNV |
Pathogenic
|
15908 |
rs57695159 |
GRCh37: 12:53073651-53073651 GRCh38: 12:52679867-52679867 |
25 |
KRT1 |
NM_006121.4(KRT1):c.464T>A (p.Val155Asp) |
SNV |
Pathogenic
|
15913 |
rs57959072 |
GRCh37: 12:53073669-53073669 GRCh38: 12:52679885-52679885 |
26 |
KRT1 |
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) |
SNV |
Pathogenic
|
15914 |
rs59429455 |
GRCh37: 12:53073569-53073569 GRCh38: 12:52679785-52679785 |
27 |
KRT1 |
NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) |
SNV |
Pathogenic
|
15915 |
rs137853225 |
GRCh37: 12:53070110-53070110 GRCh38: 12:52676326-52676326 |
28 |
KRT1 |
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs) |
DUP |
Pathogenic
|
15921 |
|
GRCh37: 12:53069154-53069155 GRCh38: 12:52675370-52675371 |
29 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.467G>A (p.Arg156His) |
SNV |
Pathogenic
|
14573 |
rs58075662 |
GRCh37: 17:38978371-38978371 GRCh38: 17:40822119-40822119 |
30 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs) |
INSERT |
Pathogenic
|
66161 |
rs267607379 |
GRCh37: 17:38975827-38975828 GRCh38: 17:40819575-40819576 |
31 |
KRT10-AS1, KRT10 |
NM_000421.5(KRT10):c.467G>T (p.Arg156Leu) |
SNV |
Pathogenic
|
66176 |
rs58075662 |
GRCh37: 17:38978371-38978371 GRCh38: 17:40822119-40822119 |
32 |
KRT1 |
NM_006121.4(KRT1):c.563A>T (p.Asn188Ile) |
SNV |
Likely Pathogenic
|
1339265 |
|
GRCh37: 12:53073570-53073570 GRCh38: 12:52679786-52679786 |
33 |
COL7A1 |
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) |
SNV |
Likely Pathogenic
|
373954 |
rs147040026 |
GRCh37: 3:48629171-48629171 GRCh38: 3:48591738-48591738 |
34 |
KRT2 |
NM_000423.3(KRT2):c.1051G>A (p.Glu351Lys) |
SNV |
Uncertain Significance
|
309610 |
rs751634621 |
GRCh37: 12:53042028-53042028 GRCh38: 12:52648244-52648244 |
35 |
KRT2 |
NM_000423.3(KRT2):c.52G>A (p.Gly18Arg) |
SNV |
Uncertain Significance
|
309630 |
rs779454673 |
GRCh37: 12:53045875-53045875 GRCh38: 12:52652091-52652091 |
36 |
KRT2 |
NM_000423.3(KRT2):c.*248C>T |
SNV |
Uncertain Significance
|
309590 |
rs539170994 |
GRCh37: 12:53038555-53038555 GRCh38: 12:52644771-52644771 |
37 |
KRT2 |
NM_000423.3(KRT2):c.*301G>A |
SNV |
Uncertain Significance
|
309586 |
rs886049628 |
GRCh37: 12:53038502-53038502 GRCh38: 12:52644718-52644718 |
38 |
KRT2 |
NM_000423.3(KRT2):c.864C>T (p.Asp288=) |
SNV |
Uncertain Significance
|
309612 |
rs765620105 |
GRCh37: 12:53042884-53042884 GRCh38: 12:52649100-52649100 |
39 |
KRT2 |
NM_000423.3(KRT2):c.1829G>T (p.Gly610Val) |
SNV |
Uncertain Significance
|
309595 |
rs886049630 |
GRCh37: 12:53038894-53038894 GRCh38: 12:52645110-52645110 |
40 |
KRT2 |
NM_000423.3(KRT2):c.*263C>T |
SNV |
Uncertain Significance
|
883312 |
rs1189980977 |
GRCh37: 12:53038540-53038540 GRCh38: 12:52644756-52644756 |
41 |
KRT2 |
NM_000423.3(KRT2):c.*125T>G |
SNV |
Uncertain Significance
|
883313 |
rs1941137697 |
GRCh37: 12:53038678-53038678 GRCh38: 12:52644894-52644894 |
42 |
KRT2 |
NM_000423.3(KRT2):c.800+9C>G |
SNV |
Uncertain Significance
|
883364 |
rs1242347501 |
GRCh37: 12:53044114-53044114 GRCh38: 12:52650330-52650330 |
43 |
KRT2 |
NM_000423.3(KRT2):c.346G>C (p.Gly116Arg) |
SNV |
Uncertain Significance
|
881005 |
rs1941253363 |
GRCh37: 12:53045581-53045581 GRCh38: 12:52651797-52651797 |
44 |
KRT2 |
NM_000423.3(KRT2):c.*438A>G |
SNV |
Uncertain Significance
|
882264 |
rs1941133709 |
GRCh37: 12:53038365-53038365 GRCh38: 12:52644581-52644581 |
45 |
KRT2 |
NM_000423.3(KRT2):c.290G>A (p.Gly97Glu) |
SNV |
Uncertain Significance
|
882362 |
rs1941256831 |
GRCh37: 12:53045637-53045637 GRCh38: 12:52651853-52651853 |
46 |
KRT2 |
NM_000423.3(KRT2):c.*346A>T |
SNV |
Uncertain Significance
|
882527 |
rs1178289586 |
GRCh37: 12:53038457-53038457 GRCh38: 12:52644673-52644673 |
47 |
KRT2 |
NM_000423.3(KRT2):c.*324C>T |
SNV |
Uncertain Significance
|
882528 |
rs1941135094 |
GRCh37: 12:53038479-53038479 GRCh38: 12:52644695-52644695 |
48 |
KRT2 |
NM_000423.3(KRT2):c.*322G>C |
SNV |
Uncertain Significance
|
882529 |
rs1285903268 |
GRCh37: 12:53038481-53038481 GRCh38: 12:52644697-52644697 |
49 |
KRT2 |
NM_000423.3(KRT2):c.*302T>C |
SNV |
Uncertain Significance
|
882530 |
rs745675085 |
GRCh37: 12:53038501-53038501 GRCh38: 12:52644717-52644717 |
50 |
KRT2 |
NM_000423.3(KRT2):c.301delinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly) |
INDEL |
Uncertain Significance
|
309622 |
rs886049632 |
GRCh37: 12:53045626-53045626 GRCh38: 12:52651842-52651842 |