Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13085 | chr2 | 140234835 | G | A |
c.13610C>T
|
p.Ala4537Val
|
3.0 |
|
B | ||
| 12255 | chr2 | 140238137 | C | T |
c.13560+15G>A
|
-
|
- | 3.0 |
|
B | |
| 9786 | chr2 | 140238158 | TG | T |
c.13553del
|
p.Pro4518GlnfsTer7
|
- | 4.0 |
|
B | |
| 5027 | chr2 | 140238258 | C | T |
c.13454G>A
|
p.Gly4485Glu
|
- | 3.0 |
|
B | |
| 24054 | chr2 | 140238311 | C | T |
c.13416-15G>A
|
-
|
3.0 |
|
B | ||
| 16235 | chr2 | 140247119 | G | T |
c.13291C>A
|
p.Pro4431Thr
|
3.0 |
|
B | ||
| 8464 | chr2 | 140247121 | G | A |
c.13289C>T
|
p.Ala4430Val
|
3.0 |
|
B | ||
| 30532 | chr2 | 140247131 | C | T |
c.13279G>A
|
p.Glu4427Lys
|
- | 3.0 |
|
B | |
| 28381 | chr2 | 140270237 | C | T |
c.13247+5G>A
|
-
|
- | 3.0 |
|
B | |
| 13471 | chr2 | 140270302 | C | A |
c.13187G>T
|
p.Gly4396Val
|
- | 3.0 |
|
B | |
| 17093 | chr2 | 140270321 | T | A |
c.13168A>T
|
p.Ser4390Cys
|
- | 3.0 |
|
B | |
| 33608 | chr2 | 140274415 | T | C |
c.13142+9A>G
|
-
|
- | 3.0 |
|
B | |
| 27937 | chr2 | 140274420 | T | C |
c.13142+4A>G
|
-
|
- | 3.0 |
|
B | |
| 126 | chr2 | 140274424 | T | C |
c.13142A>G
|
p.Asn4381Ser
|
- | 4.0 |
|
B | |
| 25730 | chr2 | 140274431 | A | G |
c.13135T>C
|
p.Phe4379Leu
|
- | 3.0 |
|
B | |
| 25792 | chr2 | 140274445 | TC | T |
c.13120del
|
p.Asp4374ThrfsTer81
|
- | 4.0 |
|
B | |
| 35639 | chr2 | 140274470 | C | A |
c.13096G>T
|
p.Gly4366Trp
|
- | 3.0 |
|
B | |
| 12463 | chr2 | 140274493 | A | G |
c.13073T>C
|
p.Val4358Ala
|
3.0 |
|
B | ||
| 2810 | chr2 | 140274514 | T | A |
c.13052A>T
|
p.Tyr4351Phe
|
- | 3.0 |
|
B | |
| 23433 | chr2 | 140274556 | A | AT |
c.13009dup
|
p.Ile4337AsnfsTer4
|
- | 4.0 |
|
B |