Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19097 | chr15 | 38339849 | A | C |
c.536A>C
|
p.Glu179Ala
|
- | 3.0 |
|
B | |
| 14965 | chr15 | 38351071 | A | T |
c.742A>T
|
p.Ile248Leu
|
- | 3.0 |
|
B | |
| 15302 | chr15 | 38351090 | T | G |
c.761T>G
|
p.Leu254Ter
|
- | 3.5 |
|
B | |
| 30293 | chr15 | 38351221 | G | A |
c.892G>A
|
p.Asp298Asn
|
- | 3.0 |
|
B | |
| 22540 | chr15 | 38351252 | C | A |
c.923C>A
|
p.Ser308Tyr
|
- | 3.0 |
|
B | |
| 12962 | chr15 | 38351577 | T | TG |
c.1248_1249insG
|
p.Met417AspfsTer15
|
- | 3.5 |
|
B | |
| 6057 | chr15 | 40170081 | C | T |
c.199C>T
|
p.Arg67Ter
|
4.5 |
|
B | ||
| 21959 | chr15 | 40170126 | G | A |
c.239+5G>A
|
-
|
- | 3.0 |
|
B | |
| 7121 | chr15 | 40183805 | A | G |
c.673A>G
|
p.Ser225Gly
|
- | 3.0 |
|
B | |
| 26823 | chr15 | 40183884 | G | A |
c.751+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 17551 | chr15 | 40185304 | AC | A |
c.897del
|
p.Met300CysfsTer31
|
4.0 |
|
B | ||
| 34795 | chr15 | 40200322 | C | A |
c.1480C>A
|
p.Leu494Ile
|
- | 3.0 |
|
B | |
| 22146 | chr15 | 40200358 | A | C |
c.1516A>C
|
p.Arg506=
|
- | 3.0 |
|
B | |
| 28709 | chr15 | 40206206 | C | T |
c.1757C>T
|
p.Pro586Leu
|
- | 3.0 |
|
B | |
| 17482 | chr15 | 40208620 | ATTTTTG | A |
c.2010-16_2010-11del
|
-
|
- | 3.0 |
|
B | |
| 15550 | chr15 | 40208701 | G | A |
c.2074G>A
|
p.Val692Ile
|
- | 3.0 |
|
B | |
| 31292 | chr15 | 40208714 | C | A |
c.2087C>A
|
p.Ser696Tyr
|
- | 3.0 |
|
B | |
| 27225 | chr15 | 40210133 | C | T |
c.2308C>T
|
p.Arg770Ter
|
4.0 |
|
B | ||
| 12692 | chr15 | 40210214 | G | A |
c.2385+4G>A
|
-
|
- | 3.0 |
|
B | |
| 32705 | chr15 | 40217500 | C | T |
c.2683C>T
|
p.His895Tyr
|
- | 3.0 |
|
B |