1 |
WDR81 |
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) |
SNV |
Pathogenic
|
984714 |
rs762607878 |
GRCh37: 17:1639342-1639342 GRCh38: 17:1736048-1736048 |
2 |
WDR81 |
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) |
SNV |
Pathogenic
|
224836 |
rs138358708 |
GRCh37: 17:1634392-1634392 GRCh38: 17:1731098-1731098 |
3 |
WDR81 |
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) |
SNV |
Pathogenic
|
31611 |
rs587776906 |
GRCh37: 17:1630820-1630820 GRCh38: 17:1727526-1727526 |
4 |
WDR81 |
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter) |
DUP |
Likely Pathogenic
|
1696176 |
|
GRCh37: 17:1629610-1629611 GRCh38: 17:1726316-1726317 |
5 |
WDR81 |
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) |
SNV |
Uncertain Significance
|
1031890 |
rs748793270 |
GRCh37: 17:1630304-1630304 GRCh38: 17:1727010-1727010 |
6 |
WDR81 |
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) |
SNV |
Uncertain Significance
|
547902 |
rs766140596 |
GRCh37: 17:1631338-1631338 GRCh38: 17:1728044-1728044 |
7 |
WDR81 |
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) |
SNV |
Uncertain Significance
|
982855 |
rs374149596 |
GRCh37: 17:1628735-1628735 GRCh38: 17:1725441-1725441 |
8 |
WDR81 |
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) |
SNV |
Uncertain Significance
|
982857 |
rs1203128651 |
GRCh37: 17:1630160-1630160 GRCh38: 17:1726866-1726866 |
9 |
WDR81 |
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) |
SNV |
Uncertain Significance
|
596303 |
rs150798889 |
GRCh37: 17:1629298-1629298 GRCh38: 17:1726004-1726004 |
10 |
WDR81 |
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) |
SNV |
Uncertain Significance
|
1701671 |
|
GRCh37: 17:1630747-1630747 GRCh38: 17:1727453-1727453 |
11 |
WDR81 |
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) |
SNV |
Uncertain Significance
|
235691 |
rs151330612 |
GRCh37: 17:1631785-1631785 GRCh38: 17:1728491-1728491 |
12 |
WDR81 |
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) |
SNV |
Uncertain Significance
|
1029177 |
rs780969097 |
GRCh37: 17:1629325-1629325 GRCh38: 17:1726031-1726031 |
13 |
WDR81 |
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) |
SNV |
Uncertain Significance
|
1029178 |
rs1915232687 |
GRCh37: 17:1629410-1629410 GRCh38: 17:1726116-1726116 |
14 |
WDR81 |
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) |
SNV |
Uncertain Significance
|
1030235 |
rs992608564 |
GRCh37: 17:1629727-1629727 GRCh38: 17:1726433-1726433 |
15 |
WDR81 |
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) |
SNV |
Uncertain Significance
|
1030237 |
rs746252411 |
GRCh37: 17:1637358-1637358 GRCh38: 17:1734064-1734064 |
16 |
WDR81 |
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) |
SNV |
Uncertain Significance
|
377255 |
rs369748157 |
GRCh37: 17:1631368-1631368 GRCh38: 17:1728074-1728074 |
17 |
WDR81 |
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) |
SNV |
Uncertain Significance
|
1031891 |
rs199995527 |
GRCh37: 17:1634127-1634127 GRCh38: 17:1730833-1730833 |
18 |
WDR81 |
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) |
SNV |
Uncertain Significance
|
1031893 |
rs150784268 |
GRCh37: 17:1638934-1638934 GRCh38: 17:1735640-1735640 |
19 |
WDR81 |
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) |
SNV |
Uncertain Significance
|
1031894 |
rs200284291 |
GRCh37: 17:1640812-1640812 GRCh38: 17:1737518-1737518 |
20 |
WDR81 |
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) |
SNV |
Uncertain Significance
|
1031895 |
rs886540540 |
GRCh37: 17:1629079-1629079 GRCh38: 17:1725785-1725785 |
21 |
WDR81 |
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) |
SNV |
Uncertain Significance
|
1033757 |
rs1915315281 |
GRCh37: 17:1630203-1630203 GRCh38: 17:1726909-1726909 |
22 |
WDR81 |
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) |
SNV |
Uncertain Significance
|
1679614 |
|
GRCh37: 17:1637109-1637109 GRCh38: 17:1733815-1733815 |
23 |
WDR81 |
NM_001163809.2(WDR81):c.5179+6C>T |
SNV |
Uncertain Significance
|
1679615 |
|
GRCh37: 17:1637516-1637516 GRCh38: 17:1734222-1734222 |
24 |
WDR81 |
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) |
SNV |
Uncertain Significance
|
634455 |
rs144021458 |
GRCh37: 17:1639000-1639000 GRCh38: 17:1735706-1735706 |
25 |
WDR81 |
NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) |
SNV |
Likely Benign
|
808188 |
rs141491316 |
GRCh37: 17:1635776-1635776 GRCh38: 17:1732482-1732482 |
26 |
WDR81 |
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser) |
SNV |
Likely Benign
|
708421 |
rs200781463 |
GRCh37: 17:1630507-1630507 GRCh38: 17:1727213-1727213 |
27 |
WDR81 |
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys) |
SNV |
Likely Benign
|
977836 |
|
GRCh37: 17:1630420-1630420 GRCh38: 17:1727126-1727126 |
28 |
WDR81 |
NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr) |
SNV |
Likely Benign
|
977894 |
|
GRCh37: 17:1634480-1634480 GRCh38: 17:1731186-1731186 |
29 |
WDR81 |
NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=) |
SNV |
Likely Benign
|
741172 |
rs140513521 |
GRCh37: 17:1636933-1636933 GRCh38: 17:1733639-1733639 |
30 |
WDR81 |
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) |
SNV |
Benign
|
130741 |
rs3809872 |
GRCh37: 17:1637302-1637302 GRCh38: 17:1734008-1734008 |
31 |
WDR81 |
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) |
SNV |
Benign
|
130742 |
rs8065251 |
GRCh37: 17:1637458-1637458 GRCh38: 17:1734164-1734164 |
32 |
WDR81 |
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) |
SNV |
Benign
|
130737 |
rs9912287 |
GRCh37: 17:1630992-1630992 GRCh38: 17:1727698-1727698 |
33 |
WDR81 |
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) |
SNV |
Benign
|
130740 |
rs3809871 |
GRCh37: 17:1637074-1637074 GRCh38: 17:1733780-1733780 |
34 |
WDR81 |
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) |
SNV |
Benign
|
130745 |
rs1045794 |
GRCh37: 17:1640709-1640709 GRCh38: 17:1737415-1737415 |
35 |
WDR81 |
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) |
SNV |
Benign
|
130746 |
rs8077638 |
GRCh37: 17:1640793-1640793 GRCh38: 17:1737499-1737499 |
36 |
WDR81 |
NM_001163809.2(WDR81):c.5506-19C>G |
SNV |
Benign
|
1185334 |
|
GRCh37: 17:1640640-1640640 GRCh38: 17:1737346-1737346 |
37 |
WDR81 |
NM_001163809.2(WDR81):c.*56A>G |
SNV |
Benign
|
1185335 |
|
GRCh37: 17:1641035-1641035 GRCh38: 17:1737741-1737741 |
38 |
WDR81 |
NM_001163809.2(WDR81):c.626C>A (p.Pro209His) |
SNV |
Not Provided
|
732182 |
rs200343855 |
GRCh37: 17:1628879-1628879 GRCh38: 17:1725585-1725585 |
39 |
WDR81 |
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu) |
SNV |
Not Provided
|
684558 |
rs151078477 |
GRCh37: 17:1640735-1640735 GRCh38: 17:1737441-1737441 |