1 |
KRT81, KRT86 |
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) |
SNV |
Pathogenic
|
7609 |
rs121909129 |
GRCh37: 12:52700054-52700054 GRCh38: 12:52306270-52306270 |
2 |
KRT81, KRT86 |
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp) |
SNV |
Pathogenic
|
7610 |
rs121909130 |
GRCh37: 12:52700056-52700056 GRCh38: 12:52306272-52306272 |
3 |
KRT81, KRT86 |
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys) |
SNV |
Pathogenic
|
7611 |
rs60687604 |
GRCh37: 12:52700021-52700021 GRCh38: 12:52306237-52306237 |
4 |
KRT81, KRT86 |
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp) |
SNV |
Pathogenic
|
7612 |
rs61091894 |
GRCh37: 12:52696040-52696040 GRCh38: 12:52302256-52302256 |
5 |
KRT81, KRT86 |
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln) |
SNV |
Pathogenic
|
7613 |
rs60687604 |
GRCh37: 12:52700021-52700021 GRCh38: 12:52306237-52306237 |
6 |
KRT81, KRT86 |
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu) |
SNV |
Pathogenic
|
7614 |
rs60612575 |
GRCh37: 12:52696053-52696053 GRCh38: 12:52302269-52302269 |
7 |
KRT81, KRT86 |
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys) |
SNV |
Pathogenic
|
7502 |
rs56821304 |
GRCh37: 12:52680929-52680929 GRCh38: 12:52287145-52287145 |
8 |
KRT81, KRT86 |
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys) |
SNV |
Pathogenic
|
7501 |
rs57419521 |
GRCh37: 12:52680896-52680896 GRCh38: 12:52287112-52287112 |
9 |
KRT83 |
NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys) |
SNV |
Pathogenic
|
446110 |
rs1438087533 |
GRCh37: 12:52709687-52709687 GRCh38: 12:52315903-52315903 |
10 |
KRT83 |
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) |
SNV |
Likely Pathogenic
|
6837 |
rs57802288 |
GRCh37: 12:52709720-52709720 GRCh38: 12:52315936-52315936 |
11 |
KRT83 |
NM_002282.3(KRT83):c.828G>A (p.Met276Ile) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
880709 |
rs200274404 |
GRCh37: 12:52710730-52710730 GRCh38: 12:52316946-52316946 |
12 |
KRT81, KRT86 |
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
561048 |
rs138597671 |
GRCh37: 12:52681822-52681822 GRCh38: 12:52288038-52288038 |
13 |
KRT83 |
NM_002282.3(KRT83):c.260C>T (p.Ser87Leu) |
SNV |
Uncertain Significance
|
884067 |
rs538643123 |
GRCh37: 12:52714860-52714860 GRCh38: 12:52321076-52321076 |
14 |
KRT83 |
NM_002282.3(KRT83):c.*102T>G |
SNV |
Uncertain Significance
|
880639 |
rs955581900 |
GRCh37: 12:52708313-52708313 GRCh38: 12:52314529-52314529 |
15 |
KRT83 |
NM_002282.3(KRT83):c.*60C>A |
SNV |
Uncertain Significance
|
880640 |
rs1938655369 |
GRCh37: 12:52708355-52708355 GRCh38: 12:52314571-52314571 |
16 |
KRT83 |
NM_002282.3(KRT83):c.1425C>T (p.Pro475=) |
SNV |
Uncertain Significance
|
880641 |
rs757638030 |
GRCh37: 12:52708472-52708472 GRCh38: 12:52314688-52314688 |
17 |
KRT83 |
NM_002282.3(KRT83):c.-58C>A |
SNV |
Uncertain Significance
|
880774 |
rs573598308 |
GRCh37: 12:52715177-52715177 GRCh38: 12:52321393-52321393 |
18 |
KRT83 |
NM_002282.3(KRT83):c.1356G>A (p.Pro452=) |
SNV |
Uncertain Significance
|
882052 |
rs764238442 |
GRCh37: 12:52708541-52708541 GRCh38: 12:52314757-52314757 |
19 |
KRT83 |
NM_002282.3(KRT83):c.*268A>C |
SNV |
Uncertain Significance
|
883919 |
rs777492822 |
GRCh37: 12:52708147-52708147 GRCh38: 12:52314363-52314363 |
20 |
KRT83 |
NM_002282.3(KRT83):c.*135C>T |
SNV |
Uncertain Significance
|
883920 |
rs956056629 |
GRCh37: 12:52708280-52708280 GRCh38: 12:52314496-52314496 |
21 |
KRT83 |
NM_002282.3(KRT83):c.*225C>T |
SNV |
Uncertain Significance
|
309487 |
rs886049620 |
GRCh37: 12:52708190-52708190 GRCh38: 12:52314406-52314406 |
22 |
KRT83 |
NM_002282.3(KRT83):c.173G>C (p.Gly58Ala) |
SNV |
Uncertain Significance
|
309543 |
rs776629118 |
GRCh37: 12:52714947-52714947 GRCh38: 12:52321163-52321163 |
23 |
KRT83 |
NM_002282.3(KRT83):c.1014A>G (p.Thr338=) |
SNV |
Uncertain Significance
|
309510 |
rs202206430 |
GRCh37: 12:52710279-52710279 GRCh38: 12:52316495-52316495 |
24 |
KRT83 |
NM_002282.3(KRT83):c.502C>T (p.Arg168Trp) |
SNV |
Uncertain Significance
|
309532 |
rs778964859 |
GRCh37: 12:52713031-52713031 GRCh38: 12:52319247-52319247 |
25 |
KRT83 |
NM_002282.3(KRT83):c.184G>A (p.Gly62Ser) |
SNV |
Uncertain Significance
|
309541 |
rs749653752 |
GRCh37: 12:52714936-52714936 GRCh38: 12:52321152-52321152 |
26 |
KRT83 |
NM_002282.3(KRT83):c.83G>T (p.Ser28Ile) |
SNV |
Uncertain Significance
|
309545 |
rs886049622 |
GRCh37: 12:52715037-52715037 GRCh38: 12:52321253-52321253 |
27 |
KRT83 |
NM_002282.3(KRT83):c.183C>T (p.Ala61=) |
SNV |
Uncertain Significance
|
309542 |
rs755364196 |
GRCh37: 12:52714937-52714937 GRCh38: 12:52321153-52321153 |
28 |
KRT83 |
NM_002282.3(KRT83):c.485G>T (p.Gly162Val) |
SNV |
Uncertain Significance
|
309534 |
rs140783754 |
GRCh37: 12:52713048-52713048 GRCh38: 12:52319264-52319264 |
29 |
KRT83 |
NM_002282.3(KRT83):c.514G>A (p.Glu172Lys) |
SNV |
Uncertain Significance
|
309531 |
rs140443749 |
GRCh37: 12:52713019-52713019 GRCh38: 12:52319235-52319235 |
30 |
KRT83 |
NM_002282.3(KRT83):c.*44C>T |
SNV |
Uncertain Significance
|
309492 |
rs186532103 |
GRCh37: 12:52708371-52708371 GRCh38: 12:52314587-52314587 |
31 |
KRT83 |
NM_002282.3(KRT83):c.815G>A (p.Arg272Gln) |
SNV |
Uncertain Significance
|
309518 |
rs369510264 |
GRCh37: 12:52710743-52710743 GRCh38: 12:52316959-52316959 |
32 |
KRT83 |
NM_002282.3(KRT83):c.*107T>G |
SNV |
Uncertain Significance
|
309491 |
rs771547026 |
GRCh37: 12:52708308-52708308 GRCh38: 12:52314524-52314524 |
33 |
KRT83 |
NM_002282.3(KRT83):c.891G>C (p.Glu297Asp) |
SNV |
Uncertain Significance
|
309514 |
rs886049621 |
GRCh37: 12:52710667-52710667 GRCh38: 12:52316883-52316883 |
34 |
KRT83 |
NM_002282.3(KRT83):c.1398G>A (p.Leu466=) |
SNV |
Uncertain Significance
|
309497 |
rs748151673 |
GRCh37: 12:52708499-52708499 GRCh38: 12:52314715-52314715 |
35 |
KRT83 |
NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys) |
SNV |
Likely Benign
|
309508 |
rs553152302 |
GRCh37: 12:52710275-52710275 GRCh38: 12:52316491-52316491 |
36 |
KRT83 |
NM_002282.3(KRT83):c.*206_*207del |
DEL |
Likely Benign
|
309488 |
rs377671303 |
GRCh37: 12:52708208-52708209 GRCh38: 12:52314424-52314425 |
37 |
KRT83 |
NM_002282.3(KRT83):c.310G>A (p.Ala104Thr) |
SNV |
Likely Benign
|
309540 |
rs779172264 |
GRCh37: 12:52714810-52714810 GRCh38: 12:52321026-52321026 |
38 |
KRT83 |
NM_002282.3(KRT83):c.957C>A (p.Thr319=) |
SNV |
Likely Benign
|
309512 |
rs755719932 |
GRCh37: 12:52710336-52710336 GRCh38: 12:52316552-52316552 |
39 |
KRT83 |
NM_002282.3(KRT83):c.599AAG[2] (p.Glu202del) |
MICROSAT |
Likely Benign
|
309528 |
rs149269323 |
GRCh37: 12:52711741-52711743 GRCh38: 12:52317957-52317959 |
40 |
KRT83 |
NM_002282.3(KRT83):c.666C>A (p.Cys222Ter) |
SNV |
Likely Benign
|
309526 |
rs2857667 |
GRCh37: 12:52711549-52711549 GRCh38: 12:52317765-52317765 |
41 |
KRT83 |
NM_002282.3(KRT83):c.667G>A (p.Ala223Thr) |
SNV |
Likely Benign
|
309524 |
rs149581248 |
GRCh37: 12:52711548-52711548 GRCh38: 12:52317764-52317764 |
42 |
KRT83 |
NM_002282.3(KRT83):c.1302C>A (p.Ser434Arg) |
SNV |
Likely Benign
|
882054 |
rs373203286 |
GRCh37: 12:52708595-52708595 GRCh38: 12:52314811-52314811 |
43 |
KRT83 |
NM_002282.3(KRT83):c.328GAG[1] (p.Glu111del) |
MICROSAT |
Likely Benign
|
309538 |
rs563212614 |
GRCh37: 12:52714787-52714789 GRCh38: 12:52321003-52321005 |
44 |
KRT83 |
NM_002282.3(KRT83):c.768A>G (p.Gln256=) |
SNV |
Benign
|
309519 |
rs143202217 |
GRCh37: 12:52710790-52710790 GRCh38: 12:52317006-52317006 |
45 |
KRT83 |
NM_002282.3(KRT83):c.790G>A (p.Val264Met) |
SNV |
Benign
|
880710 |
rs201459857 |
GRCh37: 12:52710768-52710768 GRCh38: 12:52316984-52316984 |
46 |
KRT83 |
NM_002282.3(KRT83):c.520G>C (p.Val174Leu) |
SNV |
Benign
|
883255 |
rs181439241 |
GRCh37: 12:52713013-52713013 GRCh38: 12:52319229-52319229 |
47 |
KRT83 |
NM_002282.3(KRT83):c.1327G>A (p.Gly443Arg) |
SNV |
Benign
|
882053 |
rs144061807 |
GRCh37: 12:52708570-52708570 GRCh38: 12:52314786-52314786 |
48 |
KRT83 |
NM_002282.3(KRT83):c.945G>A (p.Arg315=) |
SNV |
Benign
|
883999 |
rs138807826 |
GRCh37: 12:52710348-52710348 GRCh38: 12:52316564-52316564 |
49 |
KRT83 |
NM_002282.3(KRT83):c.389G>A (p.Arg130His) |
SNV |
Benign
|
884065 |
rs139360978 |
GRCh37: 12:52713144-52713144 GRCh38: 12:52319360-52319360 |
50 |
KRT83 |
NM_002282.3(KRT83):c.363A>G (p.Arg121=) |
SNV |
Benign
|
884066 |
rs571144595 |
GRCh37: 12:52714757-52714757 GRCh38: 12:52320973-52320973 |