Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25805 | chr4 | 102612607 | G | A |
c.2592+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 10520 | chr4 | 102613570 | G | A |
c.2738G>A
|
p.Arg913Lys
|
3.0 |
|
B | ||
| 19578 | chr4 | 102613583 | TA | T |
c.2749+11del
|
-
|
3.0 |
|
B | ||
| 9894 | chr4 | 102616549 | G | T |
c.2865G>T
|
p.Met955Ile
|
- | 3.0 |
|
B | |
| 34428 | chr4 | 105233896 | G | A |
c.-46-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 1227 | chr4 | 105233910 | G | A |
c.-33G>A
|
-
|
- | 3.0 |
|
B | |
| 21422 | chr4 | 105234066 | G | C |
c.124G>C
|
p.Glu42Gln
|
- | 3.0 |
|
B | |
| 35642 | chr4 | 105234078 | C | T |
c.136C>T
|
p.Pro46Ser
|
- | 3.0 |
|
B | |
| 10521 | chr4 | 105234100 | A | C |
c.158A>C
|
p.Lys53Thr
|
- | 3.0 |
|
B | |
| 19302 | chr4 | 105234204 | T | G |
c.262T>G
|
p.Cys88Gly
|
- | 3.0 |
|
B | |
| 28430 | chr4 | 105234222 | A | T |
c.280A>T
|
p.Ile94Leu
|
- | 3.0 |
|
B | |
| 35594 | chr4 | 105234349 | G | T |
c.407G>T
|
p.Ser136Ile
|
- | 3.0 |
|
B | |
| 7728 | chr4 | 105234604 | C | CA |
c.663dup
|
p.His222ThrfsTer3
|
4.0 |
|
B | ||
| 204 | chr4 | 105234621 | G | GA |
c.685dup
|
p.Thr229AsnfsTer25
|
4.67 |
|
A | ||
| 6030 | chr4 | 105234657 | T | G |
c.715T>G
|
p.Ser239Ala
|
- | 3.0 |
|
B | |
| 24295 | chr4 | 105234754 | C | T |
c.812C>T
|
p.Ser271Leu
|
3.0 |
|
B | ||
| 24296 | chr4 | 105235191 | C | T |
c.1249C>T
|
p.Gln417Ter
|
4.0 |
|
B | ||
| 7338 | chr4 | 105235666 | C | T |
c.1724C>T
|
p.Ala575Val
|
3.0 |
|
B | ||
| 27612 | chr4 | 105235752 | CAATACACTGG | C |
c.1813_1822del
|
p.Tyr605IlefsTer31
|
- | 4.0 |
|
B | |
| 22723 | chr4 | 105236039 | G | C |
c.2097G>C
|
p.Leu699Phe
|
- | 3.0 |
|
B |