1 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*60dup |
DUP |
Uncertain Significance
|
307600 |
rs747772644 |
GRCh37: 12:124242636-124242637 GRCh38: 12:123758089-123758090 |
2 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*2984_*2986del |
DEL |
Uncertain Significance
|
307634 |
rs886049075 |
GRCh37: 12:124245561-124245563 GRCh38: 12:123761014-123761016 |
3 |
PYCR1 |
NM_006907.4(PYCR1):c.*195_*196del |
DEL |
Uncertain Significance
|
325899 |
rs886053570 |
GRCh37: 17:79890894-79890895 GRCh38: 17:81933018-81933019 |
4 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.*803del |
DEL |
Uncertain Significance
|
301744 |
rs775267777 |
GRCh37: 10:97365716-97365716 GRCh38: 10:95605959-95605959 |
5 |
PYCR1 |
NM_006907.4(PYCR1):c.598C>T (p.Arg200Cys) |
SNV |
Uncertain Significance
|
325905 |
rs778823558 |
GRCh37: 17:79892564-79892564 GRCh38: 17:81934688-81934688 |
6 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.-170C>A |
SNV |
Uncertain Significance
|
307574 |
rs540324717 |
GRCh37: 12:124196943-124196943 GRCh38: 12:123712396-123712396 |
7 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*2344_*2346dup |
DUP |
Uncertain Significance
|
307627 |
rs886049074 |
GRCh37: 12:124244921-124244922 GRCh38: 12:123760374-123760375 |
8 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.453+13del |
DEL |
Uncertain Significance
|
301776 |
rs773804418 |
GRCh37: 10:97397031-97397031 GRCh38: 10:95637274-95637274 |
9 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*2186_*2189del |
DEL |
Uncertain Significance
|
307625 |
rs772714418 |
GRCh37: 12:124244762-124244765 GRCh38: 12:123760215-123760218 |
10 |
PYCR1 |
NM_006907.4(PYCR1):c.*746C>T |
SNV |
Uncertain Significance
|
325892 |
rs886053566 |
GRCh37: 17:79890344-79890344 GRCh38: 17:81932468-81932468 |
11 |
EFEMP2, MUS81 |
NM_016938.5(EFEMP2):c.*165dup |
DUP |
Uncertain Significance
|
305374 |
rs201135561 |
GRCh37: 11:65634223-65634224 GRCh38: 11:65866752-65866753 |
12 |
ALDH18A1 |
NM_002860.3(ALDH18A1):c.-162A>G |
SNV |
Uncertain Significance
|
301783 |
rs886047515 |
GRCh37: 10:97416487-97416487 GRCh38: 10:95656730-95656730 |
13 |
ALDH18A1 |
NM_002860.3(ALDH18A1):c.*829C>T |
SNV |
Uncertain Significance
|
301743 |
rs375868871 |
GRCh37: 10:97365690-97365690 GRCh38: 10:95605933-95605933 |
14 |
ALDH18A1 |
NM_002860.3(ALDH18A1):c.-223C>G |
SNV |
Uncertain Significance
|
301786 |
rs566221549 |
GRCh37: 10:97416548-97416548 GRCh38: 10:95656791-95656791 |
15 |
EFEMP2 |
NM_016938.4(EFEMP2):c.-143_-140GGCG[4] |
MICROSAT |
Uncertain Significance
|
305389 |
rs886048508 |
GRCh37: 11:65640275-65640276 GRCh38: 11:65872804-65872805 |
16 |
ALDH18A1 |
NM_002860.3(ALDH18A1):c.-166T>C |
SNV |
Uncertain Significance
|
301784 |
rs185345785 |
GRCh37: 10:97416491-97416491 GRCh38: 10:95656734-95656734 |
17 |
ATP6V0A2 |
NM_012463.3(ATP6V0A2):c.-243C>A |
SNV |
Uncertain Significance
|
307571 |
rs886049058 |
GRCh37: 12:124196870-124196870 GRCh38: 12:123712323-123712323 |
18 |
EFEMP2 |
NM_016938.4(EFEMP2):c.-181G>A |
SNV |
Uncertain Significance
|
305390 |
rs886048509 |
GRCh37: 11:65640327-65640327 GRCh38: 11:65872856-65872856 |
19 |
ALDH18A1 |
NM_002860.3(ALDH18A1):c.-189T>C |
SNV |
Uncertain Significance
|
301785 |
rs886047516 |
GRCh37: 10:97416514-97416514 GRCh38: 10:95656757-95656757 |
20 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) |
SNV |
Uncertain Significance
|
194862 |
rs150508296 |
GRCh37: 12:124239020-124239020 GRCh38: 12:123754473-123754473 |
21 |
EFEMP2 |
NM_016938.4(EFEMP2):c.-229G>C |
SNV |
Uncertain Significance
|
305391 |
rs886048510 |
GRCh37: 11:65640375-65640375 GRCh38: 11:65872904-65872904 |
22 |
ATP6V0A2 |
NM_012463.3(ATP6V0A2):c.-227A>G |
SNV |
Likely Benign
|
307572 |
rs561163813 |
GRCh37: 12:124196886-124196886 GRCh38: 12:123712339-123712339 |
23 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.*45G>A |
SNV |
Likely Benign
|
307562 |
rs142969969 |
GRCh37: 12:124192305-124192305 GRCh38: 12:123707758-123707758 |
24 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) |
SNV |
Likely Benign
|
126286 |
rs112158562 |
GRCh37: 12:124192207-124192207 GRCh38: 12:123707660-123707660 |
25 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.1724+20del |
DEL |
Likely Benign
|
307590 |
rs375845531 |
GRCh37: 12:124232284-124232284 GRCh38: 12:123747737-123747737 |
26 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.*412T>C |
SNV |
Likely Benign
|
307568 |
rs112525270 |
GRCh37: 12:124192672-124192672 GRCh38: 12:123708125-123708125 |
27 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.-69CG[4] |
MICROSAT |
Likely Benign
|
301779 |
rs200542959 |
GRCh37: 10:97416390-97416391 GRCh38: 10:95656633-95656634 |
28 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.*87C>T |
SNV |
Likely Benign
|
307563 |
rs113292231 |
GRCh37: 12:124192347-124192347 GRCh38: 12:123707800-123707800 |
29 |
ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.*2128_*2129del |
DEL |
Likely Benign
|
307623 |
rs150303181 |
GRCh37: 12:124244706-124244707 GRCh38: 12:123760159-123760160 |
30 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.*67C>T |
SNV |
Likely Benign
|
368984 |
rs112214860 |
GRCh37: 12:124192327-124192327 GRCh38: 12:123707780-123707780 |
31 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.*468C>T |
SNV |
Benign
|
307569 |
rs7398298 |
GRCh37: 12:124192728-124192728 GRCh38: 12:123708181-123708181 |
32 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.*155G>A |
SNV |
Benign
|
307564 |
rs12811354 |
GRCh37: 12:124192415-124192415 GRCh38: 12:123707868-123707868 |
33 |
ATP6V0A2, TCTN2 |
NM_024809.5(TCTN2):c.*330_*331insACTC |
INSERT |
Benign
|
307567 |
rs56918215 |
GRCh37: 12:124192587-124192588 GRCh38: 12:123708040-123708041 |
34 |
TCTN2, ATP6V0A2 |
NM_012463.4(ATP6V0A2):c.-14C>T |
SNV |
Benign
|
95515 |
rs1139320 |
GRCh37: 12:124197099-124197099 GRCh38: 12:123712552-123712552 |
35 |
TCTN2, ATP6V0A2 |
NM_012463.3(ATP6V0A2):c.-222C>G |
SNV |
Benign
|
307573 |
rs71458814 |
GRCh37: 12:124196891-124196891 GRCh38: 12:123712344-123712344 |