1 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1343+1G>T |
SNV |
Pathogenic
|
1355 |
rs1561879380 |
GRCh37: 6:24528395-24528395 GRCh38: 6:24528167-24528167 |
2 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.727-3298G>A |
SNV |
Pathogenic
|
1356 |
rs1561872640 |
GRCh37: 6:24512097-24512097 GRCh38: 6:24511869-24511869 |
3 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1014+723_1173+796del |
DEL |
Pathogenic
|
1360 |
|
GRCh37: 6:24521492-24523946 GRCh38: 6:24521264-24523718 |
4 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.321G>A (p.Glu107=) |
SNV |
Pathogenic
|
992960 |
rs1764675543 |
GRCh37: 6:24495545-24495545 GRCh38: 6:24495317-24495317 |
5 |
ALDH5A1 |
NC_000006.11:g.(?_24532327)_(24533940_?)del |
DEL |
Pathogenic
|
1358625 |
|
GRCh37: 6:24532327-24533940 GRCh38: |
6 |
ALDH5A1, GPLD1 |
NM_001080.3(ALDH5A1):c.36_37del (p.Arg13fs) |
DEL |
Pathogenic
|
1323000 |
|
GRCh37: 6:24495259-24495260 GRCh38: 6:24495031-24495032 |
7 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1343+1del |
DEL |
Pathogenic
|
1333253 |
|
GRCh37: 6:24528395-24528395 GRCh38: 6:24528167-24528167 |
8 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs) |
DEL |
Pathogenic
|
1429807 |
|
GRCh37: 6:24502774-24502775 GRCh38: 6:24502546-24502547 |
9 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter) |
SNV |
Pathogenic
|
1452396 |
|
GRCh37: 6:24495576-24495576 GRCh38: 6:24495348-24495348 |
10 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs) |
DEL |
Pathogenic
|
1350850 |
|
GRCh37: 6:24502820-24502821 GRCh38: 6:24502592-24502593 |
11 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter) |
SNV |
Pathogenic
|
940067 |
rs758087862 |
GRCh37: 6:24502793-24502793 GRCh38: 6:24502565-24502565 |
12 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.307_308insA (p.Arg103fs) |
INSERT |
Pathogenic
|
948582 |
rs1764674805 |
GRCh37: 6:24495531-24495532 GRCh38: 6:24495303-24495304 |
13 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter) |
SNV |
Pathogenic
|
1070877 |
|
GRCh37: 6:24515522-24515522 GRCh38: 6:24515294-24515294 |
14 |
ALDH5A1, GPLD1 |
NM_001080.3(ALDH5A1):c.276del (p.Cys93fs) |
DEL |
Pathogenic
|
1070905 |
|
GRCh37: 6:24495500-24495500 GRCh38: 6:24495272-24495272 |
15 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.896_897del (p.Ser299fs) |
MICROSAT |
Pathogenic
|
1075603 |
|
GRCh37: 6:24520652-24520653 GRCh38: 6:24520424-24520425 |
16 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) |
SNV |
Pathogenic
|
1358 |
rs118203983 |
GRCh37: 6:24528285-24528285 GRCh38: 6:24528057-24528057 |
17 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT |
INDEL |
Pathogenic
|
225890 |
rs875989801 |
GRCh37: 6:24528395-24528397 GRCh38: 6:24528167-24528169 |
18 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs) |
DEL |
Pathogenic
|
1435168 |
|
GRCh37: 6:24505144-24505150 GRCh38: 6:24504916-24504922 |
19 |
ALDH5A1, GPLD1 |
NM_001080.3(ALDH5A1):c.104_127del (p.Ser35_Gln43delinsTer) |
DEL |
Pathogenic
|
582120 |
rs1561865665 |
GRCh37: 6:24495328-24495351 GRCh38: 6:24495100-24495123 |
20 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1343+1G>A |
SNV |
Pathogenic
|
587401 |
rs1561879380 |
GRCh37: 6:24528395-24528395 GRCh38: 6:24528167-24528167 |
21 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1506_1521dup (p.Lys508fs) |
DUP |
Pathogenic
|
835064 |
rs1759979356 |
GRCh37: 6:24533829-24533830 GRCh38: 6:24533601-24533602 |
22 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg) |
SNV |
Pathogenic
|
426524 |
rs72552284 |
GRCh37: 6:24533929-24533929 GRCh38: 6:24533701-24533701 |
23 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter) |
SNV |
Pathogenic
|
1070800 |
|
GRCh37: 6:24495542-24495542 GRCh38: 6:24495314-24495314 |
24 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) |
SNV |
Pathogenic
|
1357 |
rs118203982 |
GRCh37: 6:24505099-24505099 GRCh38: 6:24504871-24504871 |
25 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.728_736del (p.Leu243_Ser245del) |
DEL |
Pathogenic
|
1691448 |
|
GRCh37: 6:24515395-24515403 GRCh38: 6:24515167-24515175 |
26 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) |
DEL |
Pathogenic
|
521941 |
rs778127154 |
GRCh37: 6:24515487-24515487 GRCh38: 6:24515259-24515259 |
27 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.610-2A>G |
SNV |
Pathogenic
|
459990 |
rs1301821497 |
GRCh37: 6:24505095-24505095 GRCh38: 6:24504867-24504867 |
28 |
ALDH5A1 |
NC_000006.12:g.(?_24527977)_(24528186_?)del |
DEL |
Pathogenic
|
583913 |
|
GRCh37: 6:24528205-24528414 GRCh38: 6:24527977-24528186 |
29 |
ALDH5A1, GPLD1 |
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe) |
SNV |
Pathogenic
|
449408 |
rs765561257 |
GRCh37: 6:24495502-24495502 GRCh38: 6:24495274-24495274 |
30 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1402+1G>A |
SNV |
Pathogenic
|
838828 |
rs762290992 |
GRCh37: 6:24532406-24532406 GRCh38: 6:24532178-24532178 |
31 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg) |
SNV |
Pathogenic
|
379247 |
rs72552281 |
GRCh37: 6:24503578-24503578 GRCh38: 6:24503350-24503350 |
32 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter) |
SNV |
Pathogenic
|
1069046 |
|
GRCh37: 6:24533872-24533872 GRCh38: 6:24533644-24533644 |
33 |
ALDH5A1, GPLD1 |
NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs) |
DUP |
Pathogenic
|
1075244 |
|
GRCh37: 6:24495254-24495255 GRCh38: 6:24495026-24495027 |
34 |
ALDH5A1 |
NC_000006.11:g.(?_24505087)_(24533940_?)del |
DEL |
Pathogenic
|
1076224 |
|
GRCh37: 6:24505087-24533940 GRCh38: |
35 |
ALDH5A1, GPLD1 |
NM_001080.3(ALDH5A1):c.123_127dup (p.Gln43fs) |
MICROSAT |
Pathogenic
|
964314 |
rs1273153948 |
GRCh37: 6:24495337-24495338 GRCh38: 6:24495109-24495110 |
36 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) |
DUP |
Pathogenic
|
595206 |
rs1561879345 |
GRCh37: 6:24528371-24528372 GRCh38: 6:24528143-24528144 |
37 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter) |
SNV |
Pathogenic
|
938537 |
rs1764675949 |
GRCh37: 6:24495559-24495559 GRCh38: 6:24495331-24495331 |
38 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1015-2A>C |
SNV |
Pathogenic
|
959632 |
rs769111673 |
GRCh37: 6:24522993-24522993 GRCh38: 6:24522765-24522765 |
39 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1015-1G>C |
SNV |
Pathogenic
|
1452915 |
|
GRCh37: 6:24522994-24522994 GRCh38: 6:24522766-24522766 |
40 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) |
DEL |
Pathogenic
|
664746 |
rs1306678453 |
GRCh37: 6:24505105-24505105 GRCh38: 6:24504877-24504877 |
41 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) |
SNV |
Pathogenic
|
235512 |
rs375628463 |
GRCh37: 6:24515471-24515471 GRCh38: 6:24515243-24515243 |
42 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs) |
DUP |
Pathogenic
|
1073790 |
|
GRCh37: 6:24520724-24520725 GRCh38: 6:24520496-24520497 |
43 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) |
SNV |
Pathogenic
|
1359 |
rs118203984 |
GRCh37: 6:24528277-24528277 GRCh38: 6:24528049-24528049 |
44 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs) |
INSERT |
Pathogenic
|
663114 |
rs755029414 |
GRCh37: 6:24503613-24503614 GRCh38: 6:24503385-24503386 |
45 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) |
SNV |
Pathogenic
|
1334843 |
|
GRCh37: 6:24503660-24503660 GRCh38: 6:24503432-24503432 |
46 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1402+1G>T |
SNV |
Likely Pathogenic
|
984711 |
rs762290992 |
GRCh37: 6:24532406-24532406 GRCh38: 6:24532178-24532178 |
47 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn) |
INSERT |
Likely Pathogenic
|
1507454 |
|
GRCh37: 6:24528392-24528393 GRCh38: 6:24528164-24528165 |
48 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1015-3C>G |
SNV |
Likely Pathogenic
|
1478419 |
|
GRCh37: 6:24522992-24522992 GRCh38: 6:24522764-24522764 |
49 |
ALDH5A1 |
NC_000006.11:g.(?_24502731)_(24515558_?)del |
DEL |
Likely Pathogenic
|
1502177 |
|
GRCh37: 6:24502731-24515558 GRCh38: |
50 |
ALDH5A1 |
NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter) |
SNV |
Likely Pathogenic
|
1346959 |
|
GRCh37: 6:24533908-24533908 GRCh38: 6:24533680-24533680 |