1 |
KRT4 |
NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys) |
SNV |
Pathogenic
|
16920 |
rs62642055 |
GRCh37: 12:53201471-53201471 GRCh38: 12:52807687-52807687 |
2 |
KRT4 |
NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) |
INSERT |
Pathogenic
|
16919 |
rs587776845 |
GRCh37: 12:53207423-53207424 GRCh38: 12:52813639-52813640 |
3 |
KRT4 |
NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del) |
MICROSAT |
Pathogenic
|
16918 |
rs587776844 |
GRCh37: 12:53207403-53207405 GRCh38: 12:52813619-52813621 |
4 |
KRT4 |
NM_002272.4(KRT4):c.193G>A (p.Val65Met) |
SNV |
Uncertain Significance
|
881697 |
rs754420448 |
GRCh37: 12:53207650-53207650 GRCh38: 12:52813866-52813866 |
5 |
KRT4 |
NM_002272.4(KRT4):c.1072C>G (p.Leu358Val) |
SNV |
Uncertain Significance
|
881185 |
rs1939839883 |
GRCh37: 12:53202131-53202131 GRCh38: 12:52808347-52808347 |
6 |
KRT4 |
NM_002272.4(KRT4):c.364C>G (p.Leu122Val) |
SNV |
Uncertain Significance
|
309702 |
rs758695571 |
GRCh37: 12:53207479-53207479 GRCh38: 12:52813695-52813695 |
7 |
KRT4 |
NM_002272.4(KRT4):c.834+2T>G |
SNV |
Uncertain Significance
|
631683 |
rs937464890 |
GRCh37: 12:53203165-53203165 GRCh38: 12:52809381-52809381 |
8 |
KRT4 |
NM_002272.4(KRT4):c.*496T>G |
SNV |
Uncertain Significance
|
881137 |
rs753033796 |
GRCh37: 12:53200357-53200357 GRCh38: 12:52806573-52806573 |
9 |
KRT4 |
NM_002272.4(KRT4):c.1467C>A (p.Gly489=) |
SNV |
Uncertain Significance
|
881603 |
rs1345230715 |
GRCh37: 12:53200949-53200949 GRCh38: 12:52807165-52807165 |
10 |
KRT4 |
NM_002272.4(KRT4):c.317C>G (p.Ala106Gly) |
SNV |
Uncertain Significance
|
881236 |
rs753431318 |
GRCh37: 12:53207526-53207526 GRCh38: 12:52813742-52813742 |
11 |
KRT4 |
NM_002272.4(KRT4):c.54C>G (p.Gly18=) |
SNV |
Uncertain Significance
|
309713 |
rs748727199 |
GRCh37: 12:53207789-53207789 GRCh38: 12:52814005-52814005 |
12 |
KRT4 |
NM_002272.4(KRT4):c.*126C>A |
SNV |
Uncertain Significance
|
309662 |
rs886049640 |
GRCh37: 12:53200727-53200727 GRCh38: 12:52806943-52806943 |
13 |
KRT4 |
NM_002272.4(KRT4):c.677+4C>T |
SNV |
Uncertain Significance
|
309688 |
rs886049642 |
GRCh37: 12:53205543-53205543 GRCh38: 12:52811759-52811759 |
14 |
KRT4 |
NM_002272.4(KRT4):c.25C>G (p.Arg9Gly) |
SNV |
Uncertain Significance
|
309714 |
rs886049646 |
GRCh37: 12:53207818-53207818 GRCh38: 12:52814034-52814034 |
15 |
KRT4 |
NM_002272.4(KRT4):c.*405G>A |
SNV |
Uncertain Significance
|
309658 |
rs886049638 |
GRCh37: 12:53200448-53200448 GRCh38: 12:52806664-52806664 |
16 |
KRT13 |
NM_153490.3(KRT13):c.540T>C (p.Ile180=) |
SNV |
Uncertain Significance
|
323097 |
rs755205284 |
GRCh37: 17:39659933-39659933 GRCh38: 17:41503681-41503681 |
17 |
KRT4 |
NM_002272.4(KRT4):c.405G>A (p.Thr135=) |
SNV |
Uncertain Significance
|
309700 |
rs762792489 |
GRCh37: 12:53207438-53207438 GRCh38: 12:52813654-52813654 |
18 |
KRT4 |
NM_002272.4(KRT4):c.741C>G (p.Asp247Glu) |
SNV |
Uncertain Significance
|
309683 |
rs369593094 |
GRCh37: 12:53203260-53203260 GRCh38: 12:52809476-52809476 |
19 |
KRT4 |
NM_002272.4(KRT4):c.353T>G (p.Leu118Trp) |
SNV |
Uncertain Significance
|
309703 |
rs886049644 |
GRCh37: 12:53207490-53207490 GRCh38: 12:52813706-52813706 |
20 |
KRT4 |
NM_002272.4(KRT4):c.678-10C>T |
SNV |
Uncertain Significance
|
309686 |
rs777722293 |
GRCh37: 12:53204610-53204610 GRCh38: 12:52810826-52810826 |
21 |
KRT4 |
NM_002272.4(KRT4):c.463-9T>C |
SNV |
Uncertain Significance
|
309697 |
rs886049643 |
GRCh37: 12:53205770-53205770 GRCh38: 12:52811986-52811986 |
22 |
KRT4 |
NM_002272.4(KRT4):c.457G>A (p.Asp153Asn) |
SNV |
Uncertain Significance
|
309698 |
rs780754412 |
GRCh37: 12:53207386-53207386 GRCh38: 12:52813602-52813602 |
23 |
KRT4 |
NM_002272.4(KRT4):c.*289G>A |
SNV |
Uncertain Significance
|
309659 |
rs886049639 |
GRCh37: 12:53200564-53200564 GRCh38: 12:52806780-52806780 |
24 |
KRT4 |
NM_002272.4(KRT4):c.726G>A (p.Val242=) |
SNV |
Uncertain Significance
|
309684 |
rs886049641 |
GRCh37: 12:53204552-53204552 GRCh38: 12:52810768-52810768 |
25 |
KRT4 |
NM_002272.4(KRT4):c.1347-3C>T |
SNV |
Uncertain Significance
|
882764 |
rs777376453 |
GRCh37: 12:53201180-53201180 GRCh38: 12:52807396-52807396 |
26 |
KRT4 |
NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys) |
SNV |
Uncertain Significance
|
882762 |
rs367751022 |
GRCh37: 12:53200999-53200999 GRCh38: 12:52807215-52807215 |
27 |
KRT4 |
NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg) |
SNV |
Uncertain Significance
|
882761 |
rs771250577 |
GRCh37: 12:53200975-53200975 GRCh38: 12:52807191-52807191 |
28 |
KRT4 |
NM_002272.4(KRT4):c.186C>T (p.Ser62=) |
SNV |
Uncertain Significance
|
309711 |
rs886049645 |
GRCh37: 12:53207657-53207657 GRCh38: 12:52813873-52813873 |
29 |
KRT4 |
NM_002272.4(KRT4):c.1386G>A (p.Val462=) |
SNV |
Likely Benign
|
882763 |
rs373947229 |
GRCh37: 12:53201030-53201030 GRCh38: 12:52807246-52807246 |
30 |
KRT4 |
NM_002272.4(KRT4):c.205C>T (p.Arg69Ter) |
SNV |
Likely Benign
|
309710 |
rs200860840 |
GRCh37: 12:53207638-53207638 GRCh38: 12:52813854-52813854 |
31 |
KRT4 |
NM_002272.4(KRT4):c.945C>T (p.Tyr315=) |
SNV |
Likely Benign
|
309678 |
rs778125368 |
GRCh37: 12:53202524-53202524 GRCh38: 12:52808740-52808740 |
32 |
KRT4 |
NM_002272.4(KRT4):c.-54A>T |
SNV |
Likely Benign
|
309716 |
rs369760401 |
GRCh37: 12:53207896-53207896 GRCh38: 12:52814112-52814112 |
33 |
KRT4 |
NM_002272.4(KRT4):c.1147G>A (p.Val383Met) |
SNV |
Likely Benign
|
309675 |
rs751984023 |
GRCh37: 12:53201627-53201627 GRCh38: 12:52807843-52807843 |
34 |
KRT4 |
NM_002272.4(KRT4):c.527C>T (p.Thr176Met) |
SNV |
Likely Benign
|
309692 |
rs370759790 |
GRCh37: 12:53205697-53205697 GRCh38: 12:52811913-52811913 |
35 |
KRT4 |
NM_002272.4(KRT4):c.1192C>T (p.His398Tyr) |
SNV |
Likely Benign
|
309674 |
rs374654554 |
GRCh37: 12:53201582-53201582 GRCh38: 12:52807798-52807798 |
36 |
KRT4 |
NM_002272.4(KRT4):c.466C>T (p.Gln156Ter) |
SNV |
Likely Benign
|
309696 |
rs535497819 |
GRCh37: 12:53205758-53205758 GRCh38: 12:52811974-52811974 |
37 |
KRT4 |
NM_002272.4(KRT4):c.513G>A (p.Leu171=) |
SNV |
Likely Benign
|
309693 |
rs774677002 |
GRCh37: 12:53205711-53205711 GRCh38: 12:52811927-52811927 |
38 |
KRT4 |
NM_002272.4(KRT4):c.1204G>A (p.Val402Ile) |
SNV |
Likely Benign
|
883554 |
rs772882487 |
GRCh37: 12:53201570-53201570 GRCh38: 12:52807786-52807786 |
39 |
KRT4 |
NM_002272.4(KRT4):c.359C>A (p.Thr120Asn) |
SNV |
Likely Benign
|
881235 |
rs201805600 |
GRCh37: 12:53207484-53207484 GRCh38: 12:52813700-52813700 |
40 |
KRT4 |
NM_002272.4(KRT4):c.954T>C (p.Ile318=) |
SNV |
Likely Benign
|
881187 |
rs770727989 |
GRCh37: 12:53202515-53202515 GRCh38: 12:52808731-52808731 |
41 |
KRT4 |
NM_002272.4(KRT4):c.801C>T (p.Asp267=) |
SNV |
Likely Benign
|
881649 |
rs369207280 |
GRCh37: 12:53203200-53203200 GRCh38: 12:52809416-52809416 |
42 |
KRT4 |
NM_002272.4(KRT4):c.1346+15A>T |
SNV |
Likely Benign
|
882765 |
rs931479 |
GRCh37: 12:53201413-53201413 GRCh38: 12:52807629-52807629 |
43 |
KRT4 |
NM_002272.4(KRT4):c.*269A>G |
SNV |
Benign
|
66516 |
rs2035879 |
GRCh37: 12:53200584-53200584 GRCh38: 12:52806800-52806800 |
44 |
KRT4 |
NM_002272.4(KRT4):c.1512C>A (p.Gly504=) |
SNV |
Benign
|
309666 |
rs573971498 |
GRCh37: 12:53200904-53200904 GRCh38: 12:52807120-52807120 |
45 |
KRT4 |
NM_002272.4(KRT4):c.983C>T (p.Ala328Val) |
SNV |
Benign
|
881186 |
rs749943854 |
GRCh37: 12:53202486-53202486 GRCh38: 12:52808702-52808702 |
46 |
KRT4 |
NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys) |
SNV |
Benign
|
883553 |
rs192699667 |
GRCh37: 12:53201516-53201516 GRCh38: 12:52807732-52807732 |
47 |
KRT4 |
NM_002272.4(KRT4):c.361C>A (p.Pro121Thr) |
SNV |
Benign
|
883597 |
rs200831095 |
GRCh37: 12:53207482-53207482 GRCh38: 12:52813698-52813698 |
48 |
KRT4 |
NM_002272.4(KRT4):c.678-3C>T |
SNV |
Benign
|
309685 |
rs73306189 |
GRCh37: 12:53204603-53204603 GRCh38: 12:52810819-52810819 |
49 |
KRT4 |
NM_002272.4(KRT4):c.548A>G (p.Asn183Ser) |
SNV |
Benign
|
309691 |
rs199768158 |
GRCh37: 12:53205676-53205676 GRCh38: 12:52811892-52811892 |
50 |
KRT4 |
NM_002272.4(KRT4):c.404C>T (p.Thr135Met) |
SNV |
Benign
|
309701 |
rs17119475 |
GRCh37: 12:53207439-53207439 GRCh38: 12:52813655-52813655 |