Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26785 | chr1 | 179108544 | C | T |
c.2723G>A
|
p.Gly908Glu
|
- | 3.0 |
|
B | |
| 7381 | chr1 | 179108650 | C | G |
c.2617G>C
|
p.Glu873Gln
|
- | 3.0 |
|
B | |
| 785 | chr1 | 179108703 | CTGGGCA | C |
c.2558_2563del
|
p.Leu853_Arg855delinsTer
|
- | 3.0 |
|
B | |
| 24144 | chr1 | 179108752 | CCT | C |
c.2513_2514del
|
p.Glu838GlyfsTer53
|
- | 3.0 |
|
B | |
| 10365 | chr1 | 179108811 | G | A |
c.2456C>T
|
p.Ser819Phe
|
3.0 |
|
B | ||
| 23025 | chr1 | 179108977 | G | A |
c.2290C>T
|
p.Arg764Ter
|
3.0 |
|
B | ||
| 25788 | chr1 | 179109064 | C | A |
c.2203G>T
|
p.Gly735Cys
|
- | 3.0 |
|
B | |
| 6885 | chr1 | 179109073 | C | T |
c.2194G>A
|
p.Gly732Ser
|
3.0 |
|
B | ||
| 18053 | chr1 | 179109439 | A | G |
c.1828T>C
|
p.Phe610Leu
|
- | 3.0 |
|
B | |
| 9881 | chr1 | 179109449 | G | T |
c.1826-8C>A
|
-
|
- | 3.0 |
|
B | |
| 23320 | chr1 | 179110275 | C | A |
c.1825+7G>T
|
-
|
- | 3.0 |
|
B | |
| 9654 | chr1 | 179110374 | T | C |
c.1733A>G
|
p.Lys578Arg
|
3.0 |
|
B | ||
| 9322 | chr1 | 179110447 | C | T |
c.1660G>A
|
p.Glu554Lys
|
- | 3.0 |
|
B | |
| 12005 | chr1 | 179112407 | C | A |
c.1562-9G>T
|
-
|
3.0 |
|
B | ||
| 9215 | chr1 | 179114885 | C | T |
c.1554G>A
|
p.Met518Ile
|
- | 3.0 |
|
B | |
| 9323 | chr1 | 179114932 | G | A |
c.1507C>T
|
p.Arg503Ter
|
- | 3.0 |
|
B | |
| 22822 | chr1 | 179114937 | C | T |
c.1502G>A
|
p.Gly501Glu
|
- | 3.0 |
|
B | |
| 12554 | chr1 | 179117445 | C | G |
c.1295G>C
|
p.Arg432Thr
|
- | 3.0 |
|
B | |
| 26168 | chr1 | 179120263 | C | T |
c.972G>A
|
p.Met324Ile
|
- | 3.0 |
|
B | |
| 22183 | chr1 | 179126385 | C | G |
c.679G>C
|
p.Asp227His
|
- | 3.0 |
|
B |