1 |
ITGA2
; MOCS2
|
NM_004531.5(MOCS2): c.*321A> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs73756618
|
5:52394111-52394111 |
5:53098281-53098281 |
2 |
ITGA2
; MOCS2
|
NM_004531.5(MOCS2): c.*171G> C
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs191465075
|
5:52394261-52394261 |
5:53098431-53098431 |
3 |
ITGA2
; MOCS2
|
NM_004531.5(MOCS2): c.*44A> C
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs367775935
|
5:52394388-52394388 |
5:53098558-53098558 |
4 |
MOCS2
|
NM_004531.5(MOCS2): c.296C> T (p.Ala99Val)
|
single nucleotide variant |
Uncertain significance |
rs2233217
|
5:52397270-52397270 |
5:53101440-53101440 |
5 |
MOCS2
|
NM_004531.5(MOCS2): c.-622G> A
|
single nucleotide variant |
Uncertain significance |
rs373522800
|
5:52405533-52405533 |
5:53109703-53109703 |
6 |
MOCS2
|
NM_004531.5(MOCS2): c.-664C> A
|
single nucleotide variant |
Uncertain significance |
rs764809636
|
5:52405575-52405575 |
5:53109745-53109745 |
7 |
MOCS2
|
NM_004531.5(MOCS2): c.*532G> A
|
single nucleotide variant |
Uncertain significance |
rs886060695
|
5:52393900-52393900 |
5:53098070-53098070 |
8 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1406C> G
|
single nucleotide variant |
Uncertain significance |
rs886061386
|
6:39873495-39873495 |
6:39905719-39905719 |
9 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1191C> A
|
single nucleotide variant |
Uncertain significance |
rs886061387
|
6:39873710-39873710 |
6:39905934-39905934 |
10 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1168C> T
|
single nucleotide variant |
Uncertain significance |
rs764443066
|
6:39873733-39873733 |
6:39905957-39905957 |
11 |
MOCS1
|
NM_001075098.4(MOCS1): c.*903T> G
|
single nucleotide variant |
Uncertain significance |
rs370974142
|
6:39873998-39873998 |
6:39906222-39906222 |
12 |
MOCS1
|
NM_001075098.4(MOCS1): c.519T> G (p.Ser173Arg)
|
single nucleotide variant |
Uncertain significance |
rs61732596
|
6:39883876-39883876 |
6:39916132-39916132 |
13 |
MOCS1
|
NM_001075098.4(MOCS1): c.421C> G (p.Gln141Glu)
|
single nucleotide variant |
Uncertain significance |
rs368942024
|
6:39883974-39883974 |
6:39916230-39916230 |
14 |
MOCS1
|
NM_001075098.4(MOCS1): c.175G> T (p.Ala59Ser)
|
single nucleotide variant |
Uncertain significance |
rs770756364
|
6:39895143-39895143 |
6:39927404-39927404 |
15 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1527_*1529dup
|
duplication |
Uncertain significance |
rs543804008
|
6:39873372-39873374 |
6:39905596-39905598 |
16 |
MOCS1
|
NM_001075098.4(MOCS1): c.758-9C> T
|
single nucleotide variant |
Uncertain significance |
rs368402544
|
6:39880757-39880757 |
6:39913013-39913013 |
17 |
MOCS1
|
NM_001075098.4(MOCS1): c.426C> T (p.Leu142=)
|
single nucleotide variant |
Uncertain significance |
rs375882259
|
6:39883969-39883969 |
6:39916225-39916225 |
18 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2646G> A
|
single nucleotide variant |
Uncertain significance |
rs886061378
|
6:39872255-39872255 |
6:39904479-39904479 |
19 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2625G> A
|
single nucleotide variant |
Uncertain significance |
rs193217053
|
6:39872276-39872276 |
6:39904500-39904500 |
20 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2428_*2431ATAG[3]
|
short repeat |
Uncertain significance |
rs112059918
|
6:39872466-39872469 |
6:39904690-39904693 |
21 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2396C> T
|
single nucleotide variant |
Uncertain significance |
rs766403739
|
6:39872505-39872505 |
6:39904729-39904729 |
22 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2201T> A
|
single nucleotide variant |
Uncertain significance |
rs745650301
|
6:39872700-39872700 |
6:39904924-39904924 |
23 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1885A> C
|
single nucleotide variant |
Uncertain significance |
rs886061381
|
6:39873016-39873016 |
6:39905240-39905240 |
24 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1830_*1831dup
|
duplication |
Uncertain significance |
rs886061382
|
6:39873070-39873071 |
6:39905294-39905295 |
25 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1758T> C
|
single nucleotide variant |
Uncertain significance |
rs192141515
|
6:39873143-39873143 |
6:39905367-39905367 |
26 |
MOCS2
|
NM_004531.5(MOCS2): c.346_349del (p.Val116fs)
|
deletion |
Uncertain significance |
rs398122798
|
5:52397217-52397220 |
5:53101387-53101390 |
27 |
MOCS1
|
NM_001075098.4(MOCS1): c.853G> A (p.Glu285Lys)
|
single nucleotide variant |
Uncertain significance |
rs140243105
|
6:39880653-39880653 |
6:39912909-39912909 |
28 |
MOCS2
|
NM_004531.5(MOCS2): c.261C> T (p.Val87=)
|
single nucleotide variant |
Uncertain significance |
rs777565219
|
5:52397305-52397305 |
5:53101475-53101475 |
29 |
MOCS2
|
NM_176806.3(MOCS2): c.*19-8_*19-5delATTT
|
deletion |
Uncertain significance |
rs779872271
|
5:52398059-52398062 |
5:53102229-53102232 |
30 |
MOCS2
|
NM_176806.4(MOCS2): c.7C> T (p.Pro3Ser)
|
single nucleotide variant |
Uncertain significance |
rs886060696
|
5:52405553-52405553 |
5:53109723-53109723 |
31 |
MOCS2
|
NM_176806.4(MOCS2): c.178C> T (p.Arg60Cys)
|
single nucleotide variant |
Uncertain significance |
rs146074751
|
5:52403014-52403014 |
5:53107184-53107184 |
32 |
MOCS2
|
NM_176806.4(MOCS2): c.117G> A (p.Lys39=)
|
single nucleotide variant |
Uncertain significance |
rs773035025
|
5:52404375-52404375 |
5:53108545-53108545 |
33 |
MOCS2
|
NM_176806.4(MOCS2): c.14G> A (p.Cys5Tyr)
|
single nucleotide variant |
Uncertain significance |
rs572637154
|
5:52405546-52405546 |
5:53109716-53109716 |
34 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2710C> T
|
single nucleotide variant |
Uncertain significance |
rs764671362
|
6:39872191-39872191 |
6:39904415-39904415 |
35 |
MOCS2
|
NM_004531.5(MOCS2): c.*372G> A
|
single nucleotide variant |
Uncertain significance |
rs753919594
|
5:52394060-52394060 |
5:53098230-53098230 |
36 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2634_*2638dup
|
duplication |
Uncertain significance |
rs370863199
|
6:39872263-39872267 |
6:39904487-39904491 |
37 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2192C> G
|
single nucleotide variant |
Uncertain significance |
rs151159237
|
6:39872709-39872709 |
6:39904933-39904933 |
38 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2073C> T
|
single nucleotide variant |
Uncertain significance |
rs7744483
|
6:39872828-39872828 |
6:39905052-39905052 |
39 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1831T> A
|
single nucleotide variant |
Uncertain significance |
rs886061383
|
6:39873070-39873070 |
6:39905294-39905294 |
40 |
MOCS1
|
NM_001075098.4(MOCS1): c.*770A> G
|
single nucleotide variant |
Uncertain significance |
rs767003803
|
6:39874131-39874131 |
6:39906355-39906355 |
41 |
MOCS1
|
NM_001075098.4(MOCS1): c.*645T> G
|
single nucleotide variant |
Uncertain significance |
rs200764011
|
6:39874256-39874256 |
6:39906480-39906480 |
42 |
MOCS1
|
NM_001075098.4(MOCS1): c.*572G> A
|
single nucleotide variant |
Uncertain significance |
rs41273140
|
6:39874329-39874329 |
6:39906553-39906553 |
43 |
MOCS2
|
NM_004531.5(MOCS2): c.*143G> A
|
single nucleotide variant |
Uncertain significance |
rs2233223
|
5:52394289-52394289 |
5:53098459-53098459 |
44 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2213C> T
|
single nucleotide variant |
Uncertain significance |
rs575187638
|
6:39872688-39872688 |
6:39904912-39904912 |
45 |
MOCS1
|
NM_001075098.4(MOCS1): c.*2204C> T
|
single nucleotide variant |
Uncertain significance |
rs886061380
|
6:39872697-39872697 |
6:39904921-39904921 |
46 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1835A> C
|
single nucleotide variant |
Uncertain significance |
rs754337805
|
6:39873066-39873066 |
6:39905290-39905290 |
47 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1771G> A
|
single nucleotide variant |
Uncertain significance |
rs374341048
|
6:39873130-39873130 |
6:39905354-39905354 |
48 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1539_*1540dup
|
duplication |
Uncertain significance |
rs886061384
|
6:39873361-39873362 |
6:39905585-39905586 |
49 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1530G> A
|
single nucleotide variant |
Uncertain significance |
rs115429345
|
6:39873371-39873371 |
6:39905595-39905595 |
50 |
MOCS1
|
NM_001075098.4(MOCS1): c.*1507C> T
|
single nucleotide variant |
Uncertain significance |
rs886061385
|
6:39873394-39873394 |
6:39905618-39905618 |