1 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) |
DEL |
Pathogenic
|
39452 |
rs1566294545 |
GRCh37: 12:124241423-124241429 GRCh38: 12:123756876-123756882 |
2 |
ATP6V0A2 |
ATP6V0A2, 1-BP INS, 100A |
INSERT |
Pathogenic
|
39453 |
|
GRCh37: GRCh38: |
3 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del |
DEL |
Pathogenic
|
21496 |
rs367543007 |
GRCh37: 12:124238964-124238965 GRCh38: 12:123754417-123754418 |
4 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) |
DEL |
Pathogenic
|
996059 |
rs1956462432 |
GRCh37: 12:124212342-124212342 GRCh38: 12:123727795-123727795 |
5 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) |
DEL |
Pathogenic
|
996063 |
rs1956563926 |
GRCh37: 12:124221782-124221782 GRCh38: 12:123737235-123737235 |
6 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.294+1G>A |
SNV |
Pathogenic
|
21499 |
rs80356751 |
GRCh37: 12:124206996-124206996 GRCh38: 12:123722449-123722449 |
7 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) |
SNV |
Pathogenic
|
844 |
rs80356758 |
GRCh37: 12:124239084-124239084 GRCh38: 12:123754537-123754537 |
8 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) |
SNV |
Pathogenic
|
845 |
rs80356750 |
GRCh37: 12:124203239-124203239 GRCh38: 12:123718692-123718692 |
9 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) |
DEL |
Likely Pathogenic
|
21495 |
rs80356756 |
GRCh37: 12:124233326-124233326 GRCh38: 12:123748779-123748779 |
10 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) |
SNV |
Uncertain Significance
|
307595 |
rs144946016 |
GRCh37: 12:124236846-124236846 GRCh38: 12:123752299-123752299 |
11 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) |
SNV |
Uncertain Significance
Uncertain Significance
|
307580 |
rs143802431 |
GRCh37: 12:124212422-124212422 GRCh38: 12:123727875-123727875 |
12 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) |
SNV |
Uncertain Significance
|
307579 |
rs563333869 |
GRCh37: 12:124209218-124209218 GRCh38: 12:123724671-123724671 |
13 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) |
SNV |
Uncertain Significance
|
307582 |
rs571403150 |
GRCh37: 12:124220140-124220140 GRCh38: 12:123735593-123735593 |
14 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) |
SNV |
Uncertain Significance
Uncertain Significance
|
307578 |
rs144499089 |
GRCh37: 12:124209215-124209215 GRCh38: 12:123724668-123724668 |
15 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) |
SNV |
Uncertain Significance
|
307586 |
rs372416067 |
GRCh37: 12:124228389-124228389 GRCh38: 12:123743842-123743842 |
16 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) |
SNV |
Uncertain Significance
|
533136 |
rs774276857 |
GRCh37: 12:124241407-124241407 GRCh38: 12:123756860-123756860 |
17 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) |
SNV |
Uncertain Significance
|
883835 |
rs747354658 |
GRCh37: 12:124210751-124210751 GRCh38: 12:123726204-123726204 |
18 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) |
SNV |
Uncertain Significance
|
676662 |
rs140835376 |
GRCh37: 12:124210758-124210758 GRCh38: 12:123726211-123726211 |
19 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) |
SNV |
Uncertain Significance
|
78884 |
rs181112338 |
GRCh37: 12:124212411-124212411 GRCh38: 12:123727864-123727864 |
20 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) |
SNV |
Uncertain Significance
|
1034405 |
rs199698721 |
GRCh37: 12:124228405-124228405 GRCh38: 12:123743858-123743858 |
21 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) |
SNV |
Uncertain Significance
Uncertain Significance
|
390767 |
rs143509747 |
GRCh37: 12:124209328-124209328 GRCh38: 12:123724781-123724781 |
22 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) |
SNV |
Uncertain Significance
|
872301 |
rs777130500 |
GRCh37: 12:124236890-124236890 GRCh38: 12:123752343-123752343 |
23 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) |
SNV |
Uncertain Significance
|
210384 |
rs138886791 |
GRCh37: 12:124239029-124239029 GRCh38: 12:123754482-123754482 |
24 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) |
SNV |
Uncertain Significance
|
425021 |
rs752689489 |
GRCh37: 12:124197138-124197138 GRCh38: 12:123712591-123712591 |
25 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) |
SNV |
Uncertain Significance
|
1698977 |
|
GRCh37: 12:124241509-124241509 GRCh38: 12:123756962-123756962 |
26 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.522-9G>A |
SNV |
Uncertain Significance
|
284399 |
rs189175284 |
GRCh37: 12:124212321-124212321 GRCh38: 12:123727774-123727774 |
27 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) |
SNV |
Uncertain Significance
|
880544 |
rs201247720 |
GRCh37: 12:124220137-124220137 GRCh38: 12:123735590-123735590 |
28 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) |
SNV |
Uncertain Significance
|
307583 |
rs367873118 |
GRCh37: 12:124221773-124221773 GRCh38: 12:123737226-123737226 |
29 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) |
SNV |
Uncertain Significance
|
284751 |
rs149700024 |
GRCh37: 12:124233163-124233163 GRCh38: 12:123748616-123748616 |
30 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*3684C>T |
SNV |
Uncertain Significance
|
884117 |
rs1051636200 |
GRCh37: 12:124246263-124246263 GRCh38: 12:123761716-123761716 |
31 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*3707A>G |
SNV |
Uncertain Significance
|
884118 |
rs1203316393 |
GRCh37: 12:124246286-124246286 GRCh38: 12:123761739-123761739 |
32 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) |
SNV |
Uncertain Significance
|
307587 |
rs371908109 |
GRCh37: 12:124229479-124229479 GRCh38: 12:123744932-123744932 |
33 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) |
SNV |
Uncertain Significance
|
499896 |
rs768609186 |
GRCh37: 12:124241406-124241406 GRCh38: 12:123756859-123756859 |
34 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) |
SNV |
Uncertain Significance
|
1098631 |
|
GRCh37: 12:124235753-124235753 GRCh38: 12:123751206-123751206 |
35 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*3368T>G |
SNV |
Uncertain Significance
|
882410 |
rs1956822109 |
GRCh37: 12:124245947-124245947 GRCh38: 12:123761400-123761400 |
36 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) |
SNV |
Uncertain Significance
|
883132 |
rs985944979 |
GRCh37: 12:124228881-124228881 GRCh38: 12:123744334-123744334 |
37 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) |
SNV |
Uncertain Significance
|
194085 |
rs532258057 |
GRCh37: 12:124229247-124229247 GRCh38: 12:123744700-123744700 |
38 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1515-12T>G |
SNV |
Uncertain Significance
|
883134 |
rs201512900 |
GRCh37: 12:124229417-124229417 GRCh38: 12:123744870-123744870 |
39 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) |
SNV |
Uncertain Significance
|
883191 |
rs775425809 |
GRCh37: 12:124242555-124242555 GRCh38: 12:123758008-123758008 |
40 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*63C>T |
SNV |
Uncertain Significance
|
883192 |
rs576086591 |
GRCh37: 12:124242642-124242642 GRCh38: 12:123758095-123758095 |
41 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*3262G>A |
SNV |
Uncertain Significance
|
882408 |
rs1593929112 |
GRCh37: 12:124245841-124245841 GRCh38: 12:123761294-123761294 |
42 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*1803C>T |
SNV |
Uncertain Significance
|
883247 |
rs117646592 |
GRCh37: 12:124244382-124244382 GRCh38: 12:123759835-123759835 |
43 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*1950G>A |
SNV |
Uncertain Significance
|
883249 |
rs1956794312 |
GRCh37: 12:124244529-124244529 GRCh38: 12:123759982-123759982 |
44 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*575G>A |
SNV |
Uncertain Significance
|
883986 |
rs996318859 |
GRCh37: 12:124243154-124243154 GRCh38: 12:123758607-123758607 |
45 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*643C>T |
SNV |
Uncertain Significance
|
883987 |
rs377386130 |
GRCh37: 12:124243222-124243222 GRCh38: 12:123758675-123758675 |
46 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*706T>G |
SNV |
Uncertain Significance
|
883988 |
rs1288578795 |
GRCh37: 12:124243285-124243285 GRCh38: 12:123758738-123758738 |
47 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*742G>A |
SNV |
Uncertain Significance
|
883989 |
rs964496583 |
GRCh37: 12:124243321-124243321 GRCh38: 12:123758774-123758774 |
48 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*2090C>T |
SNV |
Uncertain Significance
|
884054 |
rs772018611 |
GRCh37: 12:124244669-124244669 GRCh38: 12:123760122-123760122 |
49 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*191T>C |
SNV |
Uncertain Significance
|
307601 |
rs150408179 |
GRCh37: 12:124242770-124242770 GRCh38: 12:123758223-123758223 |
50 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.-148C>T |
SNV |
Uncertain Significance
|
307575 |
rs886049059 |
GRCh37: 12:124196965-124196965 GRCh38: 12:123712418-123712418 |