Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14249 | chr13 | 113209981 | C | T |
c.157C>T
-
|
p.Arg53Trp
-
|
3.0 |
|
B | ||
| 5794 | chr13 | 113210083 | T | G |
c.259T>G
-
|
p.Tyr87Asp
-
|
- | 3.0 |
|
B | |
| 10235 | chr13 | 113233979 | A | G |
c.758A>G
|
p.Glu253Gly
|
- | 3.0 |
|
B | |
| 4908 | chr13 | 113239540 | G | C |
c.1024G>C
|
p.Glu342Gln
|
- | 3.0 |
|
B | |
| 9352 | chr13 | 113243060 | C | G |
c.1128C>G
|
p.Ile376Met
|
- | 3.0 |
|
B | |
| 27478 | chr13 | 113244531 | C | T |
c.1333+17C>T
|
-
|
3.0 |
|
B | ||
| 21069 | chr13 | 113244932 | C | T |
c.1334-17C>T
|
-
|
3.0 |
|
B | ||
| 16344 | chr13 | 113253211 | C | T |
c.1752+16C>T
|
-
|
- | 3.0 |
|
B | |
| 8604 | chr13 | 113254771 | G | C |
c.1831G>C
|
p.Glu611Gln
|
- | 3.0 |
|
B | |
| 31701 | chr13 | 113260635 | G | A |
c.2060G>A
|
p.Arg687Lys
|
3.0 |
|
B | ||
| 33820 | chr13 | 113260759 | G | T |
c.2184G>T
|
p.Lys728Asn
|
- | 3.0 |
|
B | |
| 28726 | chr13 | 113263534 | T | G |
c.2232T>G
|
p.Tyr744Ter
|
- | 3.0 |
|
B | |
| 26820 | chr13 | 113263556 | C | T |
c.2254C>T
|
p.Pro752Ser
|
- | 3.0 |
|
B | |
| 3042 | chr13 | 113263557 | C | T |
c.2255C>T
|
p.Pro752Leu
|
3.0 |
|
B | ||
| 20392 | chr13 | 113306553 | G | T |
c.130G>T
|
p.Ala44Ser
|
- | 3.0 |
|
B | |
| 15567 | chr13 | 113309708 | G | T |
c.249G>T
|
p.Glu83Asp
|
- | 3.0 |
|
B | |
| 23232 | chr13 | 113309805 | A | C |
c.346A>C
|
p.Met116Leu
|
- | 3.0 |
|
B | |
| 32588 | chr13 | 113309823 | T | G |
c.364T>G
|
p.Leu122Val
|
- | 3.0 |
|
B | |
| 35582 | chr13 | 113321445 | G | T |
c.918G>T
-
|
p.Leu306Phe
-
|
- | 3.0 |
|
B | |
| 13721 | chr13 | 113321593 | C | T |
c.980C>T
-
|
p.Ala327Val
-
|
3.0 |
|
B |