1 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) |
SNV |
Pathogenic
|
217260 |
rs863225045 |
GRCh37: 10:97397084-97397084 GRCh38: 10:95637327-95637327 |
2 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) |
SNV |
Pathogenic
|
217261 |
rs863225045 |
GRCh37: 10:97397084-97397084 GRCh38: 10:95637327-95637327 |
3 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) |
SNV |
Pathogenic
|
217259 |
rs863225044 |
GRCh37: 10:97397085-97397085 GRCh38: 10:95637328-95637328 |
4 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) |
SNV |
Pathogenic
|
217118 |
rs863224945 |
GRCh37: 10:97397138-97397138 GRCh38: 10:95637381-95637381 |
5 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) |
DEL |
Pathogenic
|
459841 |
rs1555262375 |
GRCh37: 10:97392783-97392783 GRCh38: 10:95633026-95633026 |
6 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) |
SNV |
Pathogenic
|
217117 |
rs864321670 |
GRCh37: 10:97392769-97392769 GRCh38: 10:95633012-95633012 |
7 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.88+1G>A |
SNV |
Likely Pathogenic
|
659530 |
rs556267618 |
GRCh37: 10:97413046-97413046 GRCh38: 10:95653289-95653289 |
8 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) |
SNV |
Likely Pathogenic
Uncertain Significance
|
217115 |
rs752669339 |
GRCh37: 10:97370017-97370017 GRCh38: 10:95610260-95610260 |
9 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.933+1G>A |
SNV |
Likely Pathogenic
|
1487261 |
|
GRCh37: 10:97388124-97388124 GRCh38: 10:95628367-95628367 |
10 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro) |
SNV |
Uncertain Significance
|
1502817 |
|
GRCh37: 10:97381002-97381002 GRCh38: 10:95621245-95621245 |
11 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) |
SNV |
Uncertain Significance
|
1514097 |
|
GRCh37: 10:97385167-97385167 GRCh38: 10:95625410-95625410 |
12 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1078+5A>G |
SNV |
Uncertain Significance
|
1523847 |
|
GRCh37: 10:97387194-97387194 GRCh38: 10:95627437-95627437 |
13 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg) |
SNV |
Uncertain Significance
|
854542 |
rs143635402 |
GRCh37: 10:97387318-97387318 GRCh38: 10:95627561-95627561 |
14 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg) |
SNV |
Uncertain Significance
|
1517557 |
|
GRCh37: 10:97413113-97413113 GRCh38: 10:95653356-95653356 |
15 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp) |
SNV |
Uncertain Significance
|
1517687 |
|
GRCh37: 10:97371183-97371183 GRCh38: 10:95611426-95611426 |
16 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=) |
SNV |
Uncertain Significance
|
1515929 |
|
GRCh37: 10:97373724-97373724 GRCh38: 10:95613967-95613967 |
17 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=) |
SNV |
Uncertain Significance
|
1349768 |
|
GRCh37: 10:97397068-97397068 GRCh38: 10:95637311-95637311 |
18 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) |
SNV |
Uncertain Significance
|
573157 |
rs201841420 |
GRCh37: 10:97393256-97393256 GRCh38: 10:95633499-95633499 |
19 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) |
SNV |
Uncertain Significance
|
579657 |
rs757876226 |
GRCh37: 10:97380862-97380862 GRCh38: 10:95621105-95621105 |
20 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) |
SNV |
Uncertain Significance
|
581031 |
rs1302919102 |
GRCh37: 10:97397069-97397069 GRCh38: 10:95637312-95637312 |
21 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) |
SNV |
Uncertain Significance
|
638826 |
rs201841420 |
GRCh37: 10:97393256-97393256 GRCh38: 10:95633499-95633499 |
22 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe) |
SNV |
Uncertain Significance
|
930682 |
rs2097834101 |
GRCh37: 10:97371133-97371133 GRCh38: 10:95611376-95611376 |
23 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser) |
SNV |
Uncertain Significance
|
931997 |
rs2097831271 |
GRCh37: 10:97370001-97370001 GRCh38: 10:95610244-95610244 |
24 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) |
SNV |
Uncertain Significance
|
956990 |
rs192770256 |
GRCh37: 10:97387304-97387304 GRCh38: 10:95627547-95627547 |
25 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) |
SNV |
Uncertain Significance
|
1029649 |
rs770442555 |
GRCh37: 10:97376299-97376299 GRCh38: 10:95616542-95616542 |
26 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro) |
SNV |
Uncertain Significance
|
1033543 |
rs771386671 |
GRCh37: 10:97380879-97380879 GRCh38: 10:95621122-95621122 |
27 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2110+13A>G |
SNV |
Uncertain Significance
|
301758 |
rs375782465 |
GRCh37: 10:97371000-97371000 GRCh38: 10:95611243-95611243 |
28 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) |
SNV |
Uncertain Significance
|
301766 |
rs886047511 |
GRCh37: 10:97380870-97380870 GRCh38: 10:95621113-95621113 |
29 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) |
SNV |
Uncertain Significance
|
879505 |
rs764910330 |
GRCh37: 10:97373736-97373736 GRCh38: 10:95613979-95613979 |
30 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) |
SNV |
Uncertain Significance
|
879506 |
rs139035272 |
GRCh37: 10:97373784-97373784 GRCh38: 10:95614027-95614027 |
31 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) |
SNV |
Uncertain Significance
|
1048920 |
|
GRCh37: 10:97366599-97366599 GRCh38: 10:95606842-95606842 |
32 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) |
SNV |
Uncertain Significance
|
1179907 |
|
GRCh37: 10:97402904-97402904 GRCh38: 10:95643147-95643147 |
33 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg) |
SNV |
Uncertain Significance
|
1371088 |
|
GRCh37: 10:97366650-97366650 GRCh38: 10:95606893-95606893 |
34 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) |
SNV |
Uncertain Significance
|
985227 |
rs745614904 |
GRCh37: 10:97386500-97386500 GRCh38: 10:95626743-95626743 |
35 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) |
SNV |
Uncertain Significance
|
1304593 |
|
GRCh37: 10:97387291-97387291 GRCh38: 10:95627534-95627534 |
36 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) |
SNV |
Uncertain Significance
|
1342764 |
|
GRCh37: 10:97393363-97393363 GRCh38: 10:95633606-95633606 |
37 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1467+16G>A |
SNV |
Uncertain Significance
|
1396310 |
|
GRCh37: 10:97380772-97380772 GRCh38: 10:95621015-95621015 |
38 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) |
SNV |
Uncertain Significance
|
1392020 |
|
GRCh37: 10:97373834-97373834 GRCh38: 10:95614077-95614077 |
39 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg) |
SNV |
Uncertain Significance
|
1368457 |
|
GRCh37: 10:97366637-97366637 GRCh38: 10:95606880-95606880 |
40 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn) |
SNV |
Uncertain Significance
|
1412862 |
|
GRCh37: 10:97402848-97402848 GRCh38: 10:95643091-95643091 |
41 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr) |
SNV |
Uncertain Significance
|
1400420 |
|
GRCh37: 10:97380874-97380874 GRCh38: 10:95621117-95621117 |
42 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val) |
SNV |
Uncertain Significance
|
1408087 |
|
GRCh37: 10:97413109-97413109 GRCh38: 10:95653352-95653352 |
43 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr) |
SNV |
Uncertain Significance
|
1417490 |
|
GRCh37: 10:97366578-97366578 GRCh38: 10:95606821-95606821 |
44 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) |
SNV |
Uncertain Significance
|
1366482 |
|
GRCh37: 10:97385193-97385193 GRCh38: 10:95625436-95625436 |
45 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=) |
SNV |
Uncertain Significance
|
1417230 |
|
GRCh37: 10:97380875-97380875 GRCh38: 10:95621118-95621118 |
46 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe) |
SNV |
Uncertain Significance
|
1434093 |
|
GRCh37: 10:97366647-97366647 GRCh38: 10:95606890-95606890 |
47 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu) |
SNV |
Uncertain Significance
|
1438548 |
|
GRCh37: 10:97392806-97392806 GRCh38: 10:95633049-95633049 |
48 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp) |
SNV |
Uncertain Significance
|
1433375 |
|
GRCh37: 10:97393250-97393250 GRCh38: 10:95633493-95633493 |
49 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys) |
SNV |
Uncertain Significance
|
1450626 |
|
GRCh37: 10:97402772-97402772 GRCh38: 10:95643015-95643015 |
50 |
ALDH18A1 |
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) |
SNV |
Uncertain Significance
|
860228 |
rs768985400 |
GRCh37: 10:97388171-97388171 GRCh38: 10:95628414-95628414 |