1 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) |
DEL |
Pathogenic
|
802914 |
rs1593326999 |
GRCh37: 13:26349073-26349073 GRCh38: 13:25774935-25774935 |
2 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) |
SNV |
Pathogenic
|
50946 |
rs546968533 |
GRCh37: 13:26128001-26128001 GRCh38: 13:25553863-25553863 |
3 |
ATP8A2 |
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) |
DEL |
Pathogenic
|
976733 |
rs2038491713 |
GRCh37: 13:26116089-26116099 GRCh38: 13:25541951-25541961 |
4 |
ATP8A2 |
NM_016529.6(ATP8A2):c.77-2A>G |
SNV |
Pathogenic
|
1033826 |
rs373909734 |
GRCh37: 13:26043113-26043113 GRCh38: 13:25468975-25468975 |
5 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2212-1G>C |
SNV |
Pathogenic
|
1323981 |
|
GRCh37: 13:26273310-26273310 GRCh38: 13:25699172-25699172 |
6 |
ATP8A2 |
NM_016529.6(ATP8A2):c.709del (p.Thr237fs) |
DEL |
Pathogenic
|
1526029 |
|
GRCh37: 13:26116113-26116113 GRCh38: 13:25541975-25541975 |
7 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1474-2del |
DEL |
Likely Pathogenic
|
1323963 |
|
GRCh37: 13:26144903-26144903 GRCh38: 13:25570765-25570765 |
8 |
ATP8A2 |
NM_016529.6(ATP8A2):c.3272+1G>A |
SNV |
Likely Pathogenic
|
1323964 |
|
GRCh37: 13:26535802-26535802 GRCh38: 13:25961664-25961664 |
9 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) |
SNV |
Likely Pathogenic
|
1029608 |
rs1566306570 |
GRCh37: 13:26163784-26163784 GRCh38: 13:25589646-25589646 |
10 |
ATP8A2 |
NM_016529.6(ATP8A2):c.3469+1G>C |
SNV |
Likely Pathogenic
|
1029609 |
rs763272441 |
GRCh37: 13:26586761-26586761 GRCh38: 13:26012623-26012623 |
11 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1868-2A>G |
SNV |
Likely Pathogenic
|
812083 |
rs2039720333 |
GRCh37: 13:26153944-26153944 GRCh38: 13:25579806-25579806 |
12 |
ATP8A2 |
NM_016529.6(ATP8A2):c.518del (p.Gly173fs) |
DEL |
Likely Pathogenic
|
1526205 |
|
GRCh37: 13:26112134-26112134 GRCh38: 13:25537996-25537996 |
13 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) |
SNV |
Likely Pathogenic
|
429349 |
rs755133567 |
GRCh37: 13:26151250-26151250 GRCh38: 13:25577112-25577112 |
14 |
ATP8A2 |
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) |
DEL |
Likely Pathogenic
|
930222 |
rs2035763126 |
GRCh37: 13:26043248-26043248 GRCh38: 13:25469110-25469110 |
15 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1058-2A>G |
SNV |
Likely Pathogenic
|
931002 |
rs1304832284 |
GRCh37: 13:26127929-26127929 GRCh38: 13:25553791-25553791 |
16 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) |
SNV |
Likely Pathogenic
|
800507 |
rs1593576872 |
GRCh37: 13:26153995-26153995 GRCh38: 13:25579857-25579857 |
17 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) |
SNV |
Likely Pathogenic
|
800920 |
rs1304109530 |
GRCh37: 13:26151235-26151235 GRCh38: 13:25577097-25577097 |
18 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) |
SNV |
Likely Pathogenic
|
800921 |
rs1593410369 |
GRCh37: 13:26402325-26402325 GRCh38: 13:25828187-25828187 |
19 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) |
DUP |
Likely Pathogenic
|
522073 |
rs1156904586 |
GRCh37: 13:26151253-26151254 GRCh38: 13:25577115-25577116 |
20 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) |
SNV |
Uncertain Significance
|
812080 |
rs796952533 |
GRCh37: 13:26343272-26343272 GRCh38: 13:25769134-25769134 |
21 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) |
SNV |
Uncertain Significance
|
812081 |
rs2039065206 |
GRCh37: 13:26133159-26133159 GRCh38: 13:25559021-25559021 |
22 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) |
SNV |
Uncertain Significance
|
1184354 |
|
GRCh37: 13:26154054-26154054 GRCh38: 13:25579916-25579916 |
23 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) |
SNV |
Uncertain Significance
|
996952 |
rs202061089 |
GRCh37: 13:26413702-26413702 GRCh38: 13:25839564-25839564 |
24 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) |
SNV |
Uncertain Significance
|
431717 |
rs1171835963 |
GRCh37: 13:26402265-26402265 GRCh38: 13:25828127-25828127 |
25 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) |
SNV |
Uncertain Significance
|
522654 |
rs202017613 |
GRCh37: 13:26273432-26273432 GRCh38: 13:25699294-25699294 |
26 |
ATP8A2 |
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) |
SNV |
Uncertain Significance
|
548590 |
rs371560228 |
GRCh37: 13:26586730-26586730 GRCh38: 13:26012592-26012592 |
27 |
ATP8A2 |
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) |
SNV |
Uncertain Significance
|
547903 |
rs202073376 |
GRCh37: 13:26043196-26043196 GRCh38: 13:25469058-25469058 |
28 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) |
SNV |
Uncertain Significance
|
1301742 |
|
GRCh37: 13:26148948-26148948 GRCh38: 13:25574810-25574810 |
29 |
ATP8A2 |
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) |
SNV |
Uncertain Significance
|
1029610 |
rs200449118 |
GRCh37: 13:26116148-26116148 GRCh38: 13:25542010-25542010 |
30 |
ATP8A2 |
NM_016529.6(ATP8A2):c.3273-3C>G |
SNV |
Uncertain Significance
|
1526185 |
|
GRCh37: 13:26542710-26542710 GRCh38: 13:25968572-25968572 |
31 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) |
SNV |
Uncertain Significance
|
1339193 |
|
GRCh37: 13:26273413-26273413 GRCh38: 13:25699275-25699275 |
32 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) |
SNV |
Likely Benign
|
994318 |
rs41300574 |
GRCh37: 13:26163795-26163795 GRCh38: 13:25589657-25589657 |
33 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) |
SNV |
Benign
|
128489 |
rs6491066 |
GRCh37: 13:26148966-26148966 GRCh38: 13:25574828-25574828 |
34 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2008-4G>C |
SNV |
Benign
|
1168538 |
|
GRCh37: 13:26155953-26155953 GRCh38: 13:25581815-25581815 |
35 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) |
SNV |
Benign
|
128490 |
rs6491088 |
GRCh37: 13:26273385-26273385 GRCh38: 13:25699247-25699247 |
36 |
ATP8A2 |
NM_016529.6(ATP8A2):c.1185+71A>G |
SNV |
Benign
|
1192486 |
|
GRCh37: 13:26128129-26128129 GRCh38: 13:25553991-25553991 |
37 |
ATP8A2 |
NM_016529.6(ATP8A2):c.2384+55C>T |
SNV |
Benign
|
1192487 |
|
GRCh37: 13:26273538-26273538 GRCh38: 13:25699400-25699400 |
38 |
ATP8A2 |
NM_016529.6(ATP8A2):c.3183+95C>T |
SNV |
Benign
|
1192488 |
|
GRCh37: 13:26436641-26436641 GRCh38: 13:25862503-25862503 |
39 |
ATP8A2 |
NM_016529.6(ATP8A2):c.3184-88G>A |
SNV |
Benign
|
1192489 |
|
GRCh37: 13:26535625-26535625 GRCh38: 13:25961487-25961487 |