1 |
LRAT |
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) |
SNV |
Pathogenic
|
5334 |
rs104893848 |
GRCh37: 4:155666003-155666003 GRCh38: 4:154744851-154744851 |
2 |
LRAT |
NM_004744.5(LRAT):c.400_401del (p.Lys134fs) |
DEL |
Pathogenic
|
5335 |
rs761717462 |
GRCh37: 4:155665875-155665876 GRCh38: 4:154744723-154744724 |
3 |
LRAT |
NC_000004.12:g.(?_154740841)_(154749136_?)del |
DEL |
Pathogenic
|
978446 |
|
GRCh37: GRCh38: 4:154740841-154749136 |
4 |
LRAT |
NM_004744.5(LRAT):c.554_555del (p.Val185fs) |
MICROSAT |
Pathogenic
|
978449 |
rs1732935012 |
GRCh37: 4:155670147-155670148 GRCh38: 4:154748995-154748996 |
5 |
LRAT |
NM_004744.5(LRAT):c.504C>A (p.Cys168Ter) |
SNV |
Pathogenic
|
1172717 |
|
GRCh37: 4:155665982-155665982 GRCh38: 4:154744830-154744830 |
6 |
LRAT |
NM_004744.5(LRAT):c.217_218del (p.Met73fs) |
DEL |
Pathogenic
Pathogenic
|
5336 |
rs1560870755 |
GRCh37: 4:155665695-155665696 GRCh38: 4:154744543-154744544 |
7 |
LRAT |
NM_004744.5(LRAT):c.224C>T (p.Pro75Leu) |
SNV |
Likely Pathogenic
|
1172716 |
|
GRCh37: 4:155665702-155665702 GRCh38: 4:154744550-154744550 |
8 |
LRAT |
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) |
SNV |
Likely Pathogenic
|
802098 |
rs1578860322 |
GRCh37: 4:155665824-155665824 GRCh38: 4:154744672-154744672 |
9 |
LRAT |
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp) |
SNV |
Likely Pathogenic
|
842208 |
rs1396648864 |
GRCh37: 4:155665777-155665777 GRCh38: 4:154744625-154744625 |
10 |
LRAT |
NM_004744.5(LRAT):c.149T>G (p.Val50Gly) |
SNV |
Likely Pathogenic
|
978450 |
rs1384466058 |
GRCh37: 4:155665627-155665627 GRCh38: 4:154744475-154744475 |
11 |
LRAT |
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) |
SNV |
Likely Pathogenic
|
978447 |
rs1732848653 |
GRCh37: 4:155665959-155665959 GRCh38: 4:154744807-154744807 |
12 |
LRAT |
NM_004744.5(LRAT):c.487C>T (p.His163Tyr) |
SNV |
Likely Pathogenic
|
978448 |
rs1010347467 |
GRCh37: 4:155665965-155665965 GRCh38: 4:154744813-154744813 |
13 |
LRAT |
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) |
SNV |
Uncertain Significance
|
1065731 |
|
GRCh37: 4:155665794-155665794 GRCh38: 4:154744642-154744642 |
14 |
LRAT |
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) |
SNV |
Uncertain Significance
|
347851 |
rs139819099 |
GRCh37: 4:155665881-155665881 GRCh38: 4:154744729-154744729 |
15 |
LRAT |
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) |
SNV |
Uncertain Significance
|
347848 |
rs775838916 |
GRCh37: 4:155665683-155665683 GRCh38: 4:154744531-154744531 |
16 |
LRAT |
NM_004744.5(LRAT):c.80C>G (p.Ser27Trp) |
SNV |
Uncertain Significance
|
899603 |
rs141705269 |
GRCh37: 4:155665558-155665558 GRCh38: 4:154744406-154744406 |
17 |
LRAT |
NM_004744.5(LRAT):c.258G>A (p.Gly86=) |
SNV |
Uncertain Significance
|
347850 |
rs768389044 |
GRCh37: 4:155665736-155665736 GRCh38: 4:154744584-154744584 |
18 |
LRAT |
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) |
SNV |
Uncertain Significance
|
347849 |
rs747900628 |
GRCh37: 4:155665722-155665722 GRCh38: 4:154744570-154744570 |
19 |
LRAT |
NM_004744.5(LRAT):c.*2190C>T |
SNV |
Uncertain Significance
|
347868 |
rs886059169 |
GRCh37: 4:155672478-155672478 GRCh38: 4:154751326-154751326 |
20 |
LRAT |
NM_004744.5(LRAT):c.*2418G>A |
SNV |
Uncertain Significance
|
347872 |
rs886059170 |
GRCh37: 4:155672706-155672706 GRCh38: 4:154751554-154751554 |
21 |
LRAT |
NM_004744.5(LRAT):c.-2+7A>C |
SNV |
Uncertain Significance
|
347847 |
rs886059161 |
GRCh37: 4:155665381-155665381 GRCh38: 4:154744229-154744229 |
22 |
LRAT |
NM_004744.5(LRAT):c.*2310A>T |
SNV |
Uncertain Significance
|
347870 |
rs368622887 |
GRCh37: 4:155672598-155672598 GRCh38: 4:154751446-154751446 |
23 |
LRAT |
NM_004744.5(LRAT):c.*3264G>A |
SNV |
Uncertain Significance
|
347882 |
rs115053323 |
GRCh37: 4:155673552-155673552 GRCh38: 4:154752400-154752400 |
24 |
LRAT |
NM_004744.5(LRAT):c.*3654T>C |
SNV |
Uncertain Significance
|
347886 |
rs191784588 |
GRCh37: 4:155673942-155673942 GRCh38: 4:154752790-154752790 |
25 |
LRAT |
NM_004744.5(LRAT):c.*1281C>A |
SNV |
Uncertain Significance
|
347864 |
rs572110901 |
GRCh37: 4:155671569-155671569 GRCh38: 4:154750417-154750417 |
26 |
LRAT |
NM_004744.5(LRAT):c.*3509C>A |
SNV |
Uncertain Significance
|
899855 |
rs1243976906 |
GRCh37: 4:155673797-155673797 GRCh38: 4:154752645-154752645 |
27 |
LRAT |
NM_004744.5(LRAT):c.364A>G (p.Ile122Val) |
SNV |
Uncertain Significance
|
900735 |
rs907805484 |
GRCh37: 4:155665842-155665842 GRCh38: 4:154744690-154744690 |
28 |
LRAT |
NM_004744.5(LRAT):c.*561A>G |
SNV |
Uncertain Significance
|
900814 |
rs1046022135 |
GRCh37: 4:155670849-155670849 GRCh38: 4:154749697-154749697 |
29 |
LRAT |
NM_004744.5(LRAT):c.*624T>C |
SNV |
Uncertain Significance
|
900815 |
rs1732952951 |
GRCh37: 4:155670912-155670912 GRCh38: 4:154749760-154749760 |
30 |
LRAT |
NM_004744.5(LRAT):c.*1936G>C |
SNV |
Uncertain Significance
|
900893 |
rs1011111572 |
GRCh37: 4:155672224-155672224 GRCh38: 4:154751072-154751072 |
31 |
LRAT |
NM_004744.5(LRAT):c.*2064T>G |
SNV |
Uncertain Significance
|
900894 |
rs959693267 |
GRCh37: 4:155672352-155672352 GRCh38: 4:154751200-154751200 |
32 |
LRAT |
NM_004744.5(LRAT):c.*2629G>A |
SNV |
Uncertain Significance
|
900961 |
rs112759047 |
GRCh37: 4:155672917-155672917 GRCh38: 4:154751765-154751765 |
33 |
LRAT |
NM_004744.5(LRAT):c.*3714T>C |
SNV |
Uncertain Significance
|
901031 |
rs183640442 |
GRCh37: 4:155674002-155674002 GRCh38: 4:154752850-154752850 |
34 |
LRAT |
NM_004744.5(LRAT):c.*3917A>G |
SNV |
Uncertain Significance
|
901584 |
rs1052203357 |
GRCh37: 4:155674205-155674205 GRCh38: 4:154753053-154753053 |
35 |
LRAT |
NM_004744.5(LRAT):c.*81T>C |
SNV |
Uncertain Significance
|
902420 |
rs763149722 |
GRCh37: 4:155670369-155670369 GRCh38: 4:154749217-154749217 |
36 |
LRAT |
NM_004744.5(LRAT):c.*2222G>C |
SNV |
Uncertain Significance
|
902562 |
rs940106140 |
GRCh37: 4:155672510-155672510 GRCh38: 4:154751358-154751358 |
37 |
LRAT |
NM_004744.5(LRAT):c.*2322C>T |
SNV |
Uncertain Significance
|
902563 |
rs1046783706 |
GRCh37: 4:155672610-155672610 GRCh38: 4:154751458-154751458 |
38 |
LRAT |
NM_004744.5(LRAT):c.*2347C>T |
SNV |
Uncertain Significance
|
902564 |
rs528985596 |
GRCh37: 4:155672635-155672635 GRCh38: 4:154751483-154751483 |
39 |
LRAT |
NM_004744.5(LRAT):c.*2854A>G |
SNV |
Uncertain Significance
|
902616 |
rs745679958 |
GRCh37: 4:155673142-155673142 GRCh38: 4:154751990-154751990 |
40 |
LRAT |
NM_004744.5(LRAT):c.*2855A>G |
SNV |
Uncertain Significance
|
902617 |
rs1733006832 |
GRCh37: 4:155673143-155673143 GRCh38: 4:154751991-154751991 |
41 |
LRAT |
NM_004744.5(LRAT):c.*3072G>T |
SNV |
Uncertain Significance
|
902618 |
rs944531041 |
GRCh37: 4:155673360-155673360 GRCh38: 4:154752208-154752208 |
42 |
LRAT |
NM_004744.5(LRAT):c.-15C>T |
SNV |
Uncertain Significance
|
903210 |
rs113018020 |
GRCh37: 4:155665361-155665361 GRCh38: 4:154744209-154744209 |
43 |
LRAT |
NM_004744.5(LRAT):c.*98C>A |
SNV |
Uncertain Significance
|
903276 |
rs529360609 |
GRCh37: 4:155670386-155670386 GRCh38: 4:154749234-154749234 |
44 |
LRAT |
NM_004744.5(LRAT):c.*138C>A |
SNV |
Uncertain Significance
|
899673 |
rs1241475769 |
GRCh37: 4:155670426-155670426 GRCh38: 4:154749274-154749274 |
45 |
LRAT |
NM_004744.5(LRAT):c.*828G>C |
SNV |
Uncertain Significance
|
903351 |
rs1732961028 |
GRCh37: 4:155671116-155671116 GRCh38: 4:154749964-154749964 |
46 |
LRAT |
NM_004744.5(LRAT):c.*1120C>T |
SNV |
Uncertain Significance
|
903352 |
rs745651761 |
GRCh37: 4:155671408-155671408 GRCh38: 4:154750256-154750256 |
47 |
LRAT |
NM_004744.5(LRAT):c.*2417G>A |
SNV |
Uncertain Significance
|
903413 |
rs569981218 |
GRCh37: 4:155672705-155672705 GRCh38: 4:154751553-154751553 |
48 |
LRAT |
NM_004744.5(LRAT):c.*3081A>C |
SNV |
Uncertain Significance
|
903464 |
rs779703148 |
GRCh37: 4:155673369-155673369 GRCh38: 4:154752217-154752217 |
49 |
LRAT |
NM_004744.5(LRAT):c.*3163C>T |
SNV |
Uncertain Significance
|
903465 |
rs768550356 |
GRCh37: 4:155673451-155673451 GRCh38: 4:154752299-154752299 |
50 |
LRAT |
NM_004744.5(LRAT):c.*3213C>T |
SNV |
Uncertain Significance
|
903466 |
rs1733014698 |
GRCh37: 4:155673501-155673501 GRCh38: 4:154752349-154752349 |