1 |
RDX |
NM_002906.3(RDX):c.1732G>A (p.Asp578Asn) |
SNV |
Pathogenic |
13184 |
rs121918379 |
11:110102614-110102614 |
11:110231889-110231889 |
2 |
RDX |
NM_001260496.1(RDX):c.405-1415dup |
Duplication |
Pathogenic |
13185 |
rs1372141763 |
11:110104143-110104144 |
11:110233418-110233419 |
3 |
RDX |
NM_001260494.1(RDX):c.60-5775C>T |
SNV |
Pathogenic |
13186 |
rs121918380 |
11:110134689-110134689 |
11:110263964-110263964 |
4 |
RDX |
NM_002906.3(RDX):c.698+1G>A |
SNV |
Pathogenic |
13187 |
rs1191259480 |
11:110128491-110128491 |
11:110257766-110257766 |
5 |
RDX |
NM_002906.3(RDX):c.551+2T>C |
SNV |
Pathogenic |
638047 |
rs1591158999 |
11:110128829-110128829 |
11:110258104-110258104 |
6 |
RDX |
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter) |
SNV |
Pathogenic |
982441 |
|
11:110108360-110108360 |
11:110237635-110237635 |
7 |
RDX |
NM_002906.3(RDX):c.602A>G (p.Tyr201Cys) |
SNV |
Uncertain significance |
302350 |
rs146019940 |
11:110128588-110128588 |
11:110257863-110257863 |
8 |
RDX |
NM_002906.3(RDX):c.1049G>A (p.Arg350His) |
SNV |
Uncertain significance |
302348 |
rs377016439 |
11:110118469-110118469 |
11:110247744-110247744 |
9 |
RDX |
NM_002906.3(RDX):c.*1955A>G |
SNV |
Uncertain significance |
302304 |
rs138942667 |
11:110100639-110100639 |
11:110229914-110229914 |
10 |
RDX |
NM_002906.3(RDX):c.-297C>T |
SNV |
Uncertain significance |
302364 |
rs886047656 |
11:110167424-110167424 |
11:110296699-110296699 |
11 |
RDX |
NM_002906.3(RDX):c.507A>G (p.Glu169=) |
SNV |
Uncertain significance |
302351 |
rs886047648 |
11:110128875-110128875 |
11:110258150-110258150 |
12 |
RDX |
NM_002906.3(RDX):c.1195G>A (p.Ala399Thr) |
SNV |
Uncertain significance |
302345 |
rs886047646 |
11:110108273-110108273 |
11:110237548-110237548 |
13 |
RDX |
NM_002906.3(RDX):c.*463A>G |
SNV |
Uncertain significance |
302338 |
rs886047645 |
11:110102131-110102131 |
11:110231406-110231406 |
14 |
RDX |
NM_002906.3(RDX):c.*1058G>A |
SNV |
Uncertain significance |
302332 |
rs886047643 |
11:110101536-110101536 |
11:110230811-110230811 |
15 |
RDX |
NM_002906.3(RDX):c.*800C>T |
SNV |
Uncertain significance |
302335 |
rs886047644 |
11:110101794-110101794 |
11:110231069-110231069 |
16 |
RDX |
NM_002906.3(RDX):c.-65+12C>T |
SNV |
Uncertain significance |
302356 |
rs886047651 |
11:110167180-110167180 |
11:110296455-110296455 |
17 |
RDX |
NM_002906.3(RDX):c.910C>T (p.Gln304Ter) |
SNV |
Uncertain significance |
631648 |
rs893826250 |
11:110124720-110124720 |
11:110253995-110253995 |
18 |
RDX |
NM_002906.3(RDX):c.573C>A (p.Tyr191Ter) |
SNV |
Uncertain significance |
631649 |
rs139960434 |
11:110128617-110128617 |
11:110257892-110257892 |
19 |
RDX |
NM_002906.4(RDX):c.*1143G>A |
SNV |
Uncertain significance |
877175 |
|
11:110101451-110101451 |
11:110230726-110230726 |
20 |
RDX |
NM_002906.4(RDX):c.*855T>C |
SNV |
Uncertain significance |
877176 |
|
11:110101739-110101739 |
11:110231014-110231014 |
21 |
RDX |
NM_002906.4(RDX):c.*762C>A |
SNV |
Uncertain significance |
877177 |
|
11:110101832-110101832 |
11:110231107-110231107 |
22 |
RDX |
NM_002906.4(RDX):c.*740C>T |
SNV |
Uncertain significance |
877178 |
|
11:110101854-110101854 |
11:110231129-110231129 |
23 |
RDX |
NM_002906.4(RDX):c.301C>T (p.Leu101Phe) |
SNV |
Uncertain significance |
877231 |
|
11:110134851-110134851 |
11:110264126-110264126 |
24 |
RDX |
NM_002906.4(RDX):c.6G>A (p.Pro2=) |
SNV |
Uncertain significance |
877232 |
|
11:110150412-110150412 |
11:110279687-110279687 |
25 |
RDX |
NM_002906.4(RDX):c.-91G>A |
SNV |
Uncertain significance |
877233 |
|
11:110167218-110167218 |
11:110296493-110296493 |
26 |
RDX |
NM_002906.4(RDX):c.*2253C>T |
SNV |
Uncertain significance |
878146 |
|
11:110100341-110100341 |
11:110229616-110229616 |
27 |
RDX |
NM_002906.4(RDX):c.*2112A>G |
SNV |
Uncertain significance |
878147 |
|
11:110100482-110100482 |
11:110229757-110229757 |
28 |
RDX |
NM_002906.4(RDX):c.*2085A>C |
SNV |
Uncertain significance |
878148 |
|
11:110100509-110100509 |
11:110229784-110229784 |
29 |
RDX |
NM_002906.4(RDX):c.*2070A>G |
SNV |
Uncertain significance |
878149 |
|
11:110100524-110100524 |
11:110229799-110229799 |
30 |
RDX |
NM_002906.4(RDX):c.*474A>G |
SNV |
Uncertain significance |
878213 |
|
11:110102120-110102120 |
11:110231395-110231395 |
31 |
RDX |
NM_002906.4(RDX):c.*414A>T |
SNV |
Uncertain significance |
878214 |
|
11:110102180-110102180 |
11:110231455-110231455 |
32 |
RDX |
NM_002906.4(RDX):c.*302C>T |
SNV |
Uncertain significance |
878215 |
|
11:110102292-110102292 |
11:110231567-110231567 |
33 |
RDX |
NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) |
SNV |
Uncertain significance |
878216 |
|
11:110103972-110103972 |
11:110233247-110233247 |
34 |
RDX |
NM_002906.4(RDX):c.-133C>T |
SNV |
Uncertain significance |
878272 |
|
11:110167260-110167260 |
11:110296535-110296535 |
35 |
RDX |
NM_002906.4(RDX):c.*1898A>G |
SNV |
Uncertain significance |
879607 |
|
11:110100696-110100696 |
11:110229971-110229971 |
36 |
RDX |
NM_002906.4(RDX):c.*1632A>G |
SNV |
Uncertain significance |
879608 |
|
11:110100962-110100962 |
11:110230237-110230237 |
37 |
RDX |
NM_002906.4(RDX):c.*1536T>C |
SNV |
Uncertain significance |
879609 |
|
11:110101058-110101058 |
11:110230333-110230333 |
38 |
RDX |
NM_002906.4(RDX):c.*1383G>A |
SNV |
Uncertain significance |
879610 |
|
11:110101211-110101211 |
11:110230486-110230486 |
39 |
RDX |
NM_002906.4(RDX):c.*1358C>T |
SNV |
Uncertain significance |
879612 |
|
11:110101236-110101236 |
11:110230511-110230511 |
40 |
RDX |
NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) |
SNV |
Uncertain significance |
879661 |
|
11:110104002-110104002 |
11:110233277-110233277 |
41 |
RDX |
NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) |
SNV |
Uncertain significance |
879662 |
|
11:110104054-110104054 |
11:110233329-110233329 |
42 |
RDX |
NM_002906.4(RDX):c.1251+14T>G |
SNV |
Uncertain significance |
879663 |
|
11:110108203-110108203 |
11:110237478-110237478 |
43 |
RDX |
NM_002906.4(RDX):c.*1264G>C |
SNV |
Uncertain significance |
879967 |
|
11:110101330-110101330 |
11:110230605-110230605 |
44 |
RDX |
NM_002906.4(RDX):c.*1215G>A |
SNV |
Uncertain significance |
879968 |
|
11:110101379-110101379 |
11:110230654-110230654 |
45 |
RDX |
NM_002906.4(RDX):c.*1201A>G |
SNV |
Uncertain significance |
879969 |
|
11:110101393-110101393 |
11:110230668-110230668 |
46 |
RDX |
NM_002906.4(RDX):c.698+14T>C |
SNV |
Uncertain significance |
880029 |
|
11:110128478-110128478 |
11:110257753-110257753 |
47 |
RDX |
NM_001260493.1(RDX):c.-240C>G |
SNV |
Uncertain significance |
878273 |
|
11:110167367-110167367 |
11:110296642-110296642 |
48 |
RDX |
NM_001260493.1(RDX):c.-270G>C |
SNV |
Uncertain significance |
878274 |
|
11:110167397-110167397 |
11:110296672-110296672 |
49 |
RDX |
NM_001260493.1(RDX):c.-272A>T |
SNV |
Uncertain significance |
878870 |
|
11:110167399-110167399 |
11:110296674-110296674 |
50 |
RDX |
NM_001260493.1(RDX):c.-285A>G |
SNV |
Uncertain significance |
878871 |
|
11:110167412-110167412 |
11:110296687-110296687 |