1 |
ALG9 |
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) |
SNV |
Pathogenic |
3748 |
rs121908022 |
11:111706902-111706902 |
11:111836179-111836179 |
2 |
ALG9 |
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) |
SNV |
Pathogenic |
3749 |
rs121908023 |
11:111724138-111724138 |
11:111853415-111853415 |
3 |
ALG9 |
ALG9, GLU359LYS |
SNV |
Pathogenic |
488404 |
|
|
|
4 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) |
Duplication |
Pathogenic |
286400 |
rs745590426 |
12:124197189-124197190 |
12:123712642-123712643 |
5 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) |
Duplication |
Pathogenic |
840755 |
|
12:124228351-124228352 |
12:123743804-123743805 |
6 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1605+1G>A |
SNV |
Pathogenic |
967453 |
|
12:124229520-124229520 |
12:123744973-123744973 |
7 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) |
Indel |
Pathogenic |
972437 |
|
12:124233228-124233229 |
12:123748681-123748682 |
8 |
ALG9 |
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) |
SNV |
Uncertain significance |
96135 |
rs36111204 |
11:111728332-111728332 |
11:111857609-111857609 |
9 |
ALG9 |
NM_024740.2(ALG9):c.*3175G>A |
SNV |
Uncertain significance |
877291 |
|
11:111653946-111653946 |
11:111783222-111783222 |
10 |
ALG9 |
NM_024740.2(ALG9):c.*2648G>A |
SNV |
Uncertain significance |
877292 |
|
11:111654473-111654473 |
11:111783749-111783749 |
11 |
ALG9 |
NM_024740.2(ALG9):c.*2597G>C |
SNV |
Uncertain significance |
877293 |
|
11:111654524-111654524 |
11:111783800-111783800 |
12 |
ALG9 |
NM_024740.2(ALG9):c.*1311A>G |
SNV |
Uncertain significance |
877346 |
|
11:111655810-111655810 |
11:111785086-111785086 |
13 |
ALG9 |
NM_024740.2(ALG9):c.*1297A>G |
SNV |
Uncertain significance |
877347 |
|
11:111655824-111655824 |
11:111785100-111785100 |
14 |
ALG9 |
NM_024740.2(ALG9):c.*2474A>T |
SNV |
Uncertain significance |
878327 |
|
11:111654647-111654647 |
11:111783923-111783923 |
15 |
ALG9 |
NM_024740.2(ALG9):c.*2457G>T |
SNV |
Uncertain significance |
878328 |
|
11:111654664-111654664 |
11:111783940-111783940 |
16 |
ALG9 |
NM_024740.2(ALG9):c.*2443T>A |
SNV |
Uncertain significance |
878329 |
|
11:111654678-111654678 |
11:111783954-111783954 |
17 |
ALG9 |
NM_024740.2(ALG9):c.*2414T>G |
SNV |
Uncertain significance |
878330 |
|
11:111654707-111654707 |
11:111783983-111783983 |
18 |
ALG9 |
NM_024740.2(ALG9):c.*2342G>A |
SNV |
Uncertain significance |
878331 |
|
11:111654779-111654779 |
11:111784055-111784055 |
19 |
ALG9 |
NM_024740.2(ALG9):c.*726C>G |
SNV |
Uncertain significance |
878370 |
|
11:111656395-111656395 |
11:111785671-111785671 |
20 |
ALG9 |
NM_024740.2(ALG9):c.*314G>A |
SNV |
Uncertain significance |
878371 |
|
11:111656807-111656807 |
11:111786083-111786083 |
21 |
ALG9 |
NM_024740.2(ALG9):c.*305C>T |
SNV |
Uncertain significance |
878372 |
|
11:111656816-111656816 |
11:111786092-111786092 |
22 |
ALG9 |
NM_024740.2(ALG9):c.*2287A>G |
SNV |
Uncertain significance |
878913 |
|
11:111654834-111654834 |
11:111784110-111784110 |
23 |
ALG9 |
NM_024740.2(ALG9):c.*77G>A |
SNV |
Uncertain significance |
878961 |
|
11:111657044-111657044 |
11:111786320-111786320 |
24 |
ALG9 |
NM_024740.2(ALG9):c.*3798A>G |
SNV |
Uncertain significance |
880091 |
|
11:111653323-111653323 |
11:111782599-111782599 |
25 |
ALG9 |
NM_024740.2(ALG9):c.*3757T>C |
SNV |
Uncertain significance |
880092 |
|
11:111653364-111653364 |
11:111782640-111782640 |
26 |
ALG9 |
NM_024740.2(ALG9):c.*3471A>G |
SNV |
Uncertain significance |
880094 |
|
11:111653650-111653650 |
11:111782926-111782926 |
27 |
ALG9 |
NM_024740.2(ALG9):c.*3213G>A |
SNV |
Uncertain significance |
880095 |
|
11:111653908-111653908 |
11:111783184-111783184 |
28 |
ALG9 |
NM_024740.2(ALG9):c.*1722C>T |
SNV |
Uncertain significance |
880135 |
|
11:111655399-111655399 |
11:111784675-111784675 |
29 |
ALG9 |
NM_024740.2(ALG9):c.53G>A (p.Gly18Glu) |
SNV |
Uncertain significance |
880233 |
|
11:111742154-111742154 |
11:111871430-111871430 |
30 |
ALG9 |
NM_024740.2(ALG9):c.131+5G>T |
SNV |
Uncertain significance |
937587 |
|
11:111742070-111742070 |
11:111871347-111871347 |
31 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) |
SNV |
Uncertain significance |
945705 |
|
12:124228411-124228411 |
12:123743864-123743864 |
32 |
ALG9 |
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) |
SNV |
Uncertain significance |
598383 |
rs200946042 |
11:111724420-111724420 |
11:111853697-111853697 |
33 |
ALG9 |
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn) |
SNV |
Uncertain significance |
841594 |
|
11:111742108-111742108 |
11:111871385-111871385 |
34 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) |
SNV |
Uncertain significance |
284751 |
rs149700024 |
12:124233163-124233163 |
12:123748616-123748616 |
35 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) |
SNV |
Uncertain significance |
307586 |
rs372416067 |
12:124228389-124228389 |
12:123743842-123743842 |
36 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) |
SNV |
Uncertain significance |
859353 |
|
12:124242562-124242562 |
12:123758015-123758015 |
37 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) |
SNV |
Uncertain significance |
863749 |
|
12:124218476-124218476 |
12:123733929-123733929 |
38 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) |
SNV |
Uncertain significance |
392359 |
rs142935490 |
12:124210826-124210826 |
12:123726279-123726279 |
39 |
ALG9 |
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) |
SNV |
Uncertain significance |
523889 |
rs1555064204 |
11:111657198-111657198 |
11:111786474-111786474 |
40 |
ALG9 |
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys) |
SNV |
Uncertain significance |
660397 |
rs782023699 |
11:111708264-111708264 |
11:111837541-111837541 |
41 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) |
SNV |
Uncertain significance |
661517 |
rs879082266 |
12:124220091-124220091 |
12:123735544-123735544 |
42 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) |
SNV |
Uncertain significance |
533136 |
rs774276857 |
12:124241407-124241407 |
12:123756860-123756860 |
43 |
ALG9 |
NM_024740.2(ALG9):c.129C>T (p.Thr43=) |
SNV |
Uncertain significance |
538564 |
rs1311317470 |
11:111742077-111742077 |
11:111871354-111871354 |
44 |
ALG9 |
NM_024740.2(ALG9):c.*906C>A |
SNV |
Uncertain significance |
302414 |
rs147670080 |
11:111656215-111656215 |
11:111785491-111785491 |
45 |
ALG9 |
NM_024740.2(ALG9):c.*3423T>C |
SNV |
Uncertain significance |
302371 |
rs78243190 |
11:111653698-111653698 |
11:111782974-111782974 |
46 |
ALG9 |
NM_024740.2(ALG9):c.896-3C>T |
SNV |
Uncertain significance |
383735 |
rs782063335 |
11:111715449-111715449 |
11:111844726-111844726 |
47 |
ALG9 |
NM_024740.2(ALG9):c.*306G>A |
SNV |
Uncertain significance |
302422 |
rs886047683 |
11:111656815-111656815 |
11:111786091-111786091 |
48 |
ALG9 |
NM_024740.2(ALG9):c.*2473A>T |
SNV |
Uncertain significance |
302385 |
rs2554994 |
11:111654648-111654648 |
11:111783924-111783924 |
49 |
ALG9 |
NM_024740.2(ALG9):c.*1536T>C |
SNV |
Uncertain significance |
302408 |
rs782678326 |
11:111655585-111655585 |
11:111784861-111784861 |
50 |
ALG9 |
NM_024740.2(ALG9):c.*2230A>C |
SNV |
Uncertain significance |
302394 |
rs116530919 |
11:111654891-111654891 |
11:111784167-111784167 |