Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26818 | chr13 | 27963168 | G | A |
c.889C>T
|
p.Pro297Ser
|
3.0 |
|
B | ||
| 15891 | chr13 | 27964891 | C | T |
c.666G>A
|
p.Thr222=
|
3.0 |
|
B | ||
| 14247 | chr13 | 27964938 | A | T |
c.619T>A
|
p.Tyr207Asn
|
- | 3.0 |
|
B | |
| 14287 | chr13 | 27964947 | C | T |
c.610G>A
|
p.Glu204Lys
|
- | 3.0 |
|
B | |
| 14215 | chr13 | 27964959 | C | T |
c.598G>A
|
p.Glu200Lys
|
- | 3.0 |
|
B | |
| 14137 | chr13 | 27965002 | C | T |
c.555G>A
|
p.Thr185=
|
3.0 |
|
B | ||
| 16379 | chr13 | 27968809 | C | G |
c.198G>C
|
p.Pro66=
|
3.0 |
|
B | ||
| 32663 | chr13 | 27968825 | G | A |
c.182C>T
|
p.Pro61Leu
|
- | 3.0 |
|
B | |
| 35173 | chr13 | 27968920 | C | A |
c.87G>T
|
p.Gln29His
|
3.0 |
|
B | ||
| 21750 | chr13 | 27968999 | A | G |
c.8T>C
|
p.Val3Ala
|
- | 3.0 |
|
B | |
| 17889 | chr13 | 28015142 | C | G |
c.2753+15G>C
|
-
|
3.0 |
|
B | ||
| 12833 | chr13 | 28015176 | ATGGCTG | A |
c.2728_2733del
|
p.Gln910_Pro911del
|
- | 3.0 |
|
B | |
| 10882 | chr13 | 28015233 | G | T |
c.2677C>A
|
p.Pro893Thr
|
- | 3.0 |
|
B | |
| 18459 | chr13 | 28015244 | T | C |
c.2666A>G
|
p.Tyr889Cys
|
- | 3.0 |
|
B | |
| 4153 | chr13 | 28015262 | G | A |
c.2654-6C>T
|
-
|
3.0 |
|
B | ||
| 26142 | chr13 | 28015620 | C | T |
c.2623G>A
|
p.Gly875Arg
|
- | 3.0 |
|
B | |
| 33517 | chr13 | 28015712 | C | G |
c.2542-11G>C
|
-
|
- | 3.0 |
|
B | |
| 35705 | chr13 | 28018483 | T | C |
c.2525A>G
|
p.Tyr842Cys
|
- |
|
B | ||
| 35702 | chr13 | 28018503 | A | T |
c.2505T>A
|
p.Asp835Glu
|
- |
|
B | ||
| 22665 | chr13 | 28018504 | T | A |
c.2504A>T
|
p.Asp835Val
|
4.5 |
|
B |