Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11249 | chr18 | 62920050 | G | T |
c.2896G>T
|
p.Val966Phe
|
- | 3.0 |
|
B | |
| 31792 | chr18 | 62945265 | G | T |
c.3318G>T
|
p.Glu1106Asp
|
- | 3.0 |
|
B | |
| 19782 | chr18 | 62963369 | A | G |
c.3457A>G
|
p.Asn1153Asp
|
- | 3.0 |
|
B | |
| 7326 | chr18 | 62972513 | G | T |
c.3561-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 13122 | chr18 | 62972718 | A | C |
c.3755+10A>C
|
-
|
- | 3.0 |
|
B | |
| 31693 | chr18 | 62978587 | G | T |
c.4310G>T
|
p.Gly1437Val
|
- | 3.0 |
|
B | |
| 12338 | chr18 | 62978629 | C | T |
c.4352C>T
|
p.Ser1451Leu
|
3.0 |
|
B | ||
| 14273 | chr18 | 62978663 | T | C |
c.4386T>C
|
p.Asp1462=
|
3.0 |
|
B | ||
| 32323 | chr18 | 62978737 | G | T |
c.4460G>T
|
p.Ser1487Ile
|
- | 3.0 |
|
B | |
| 13609 | chr18 | 62978940 | G | A |
c.4663G>A
|
p.Gly1555Ser
|
- | 3.0 |
|
B | |
| 31793 | chr18 | 62979132 | G | T |
c.4855G>T
|
p.Gly1619Trp
|
- | 3.0 |
|
B | |
| 17681 | chr18 | 63318040 | C | G |
c.585+42G>C
|
-
|
- | 3.0 |
|
B | |
| 23099 | chr18 | 63318144 | G | T |
c.523C>A
|
p.Leu175Met
|
- | 3.0 |
|
B | |
| 6134 | chr18 | 63318227 | A | G |
c.440T>C
|
p.Ile147Thr
|
- | 3.0 |
|
B | |
| 22952 | chr18 | 63318436 | G | A |
c.231C>T
|
p.Ala77=
|
3.0 |
|
B | ||
| 1811 | chr18 | 63318468 | C | T |
c.199G>A
|
p.Ala67Thr
|
3.0 |
|
B | ||
| 2191 | chr18 | 63318547 | C | A |
c.120G>T
|
p.Pro40=
|
- | 3.0 |
|
B | |
| 24672 | chr18 | 63331914 | G | C |
c.880-13C>G
|
-
|
- | 3.0 |
|
B | |
| 23533 | chr18 | 63335337 | G | A |
c.799C>T
|
p.Leu267Phe
|
- | 3.0 |
|
B | |
| 34303 | chr18 | 63351009 | C | T |
c.488G>A
|
p.Arg163His
|
3.0 |
|
B |