Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10014 | chr3 | 183492205 | C | T |
c.1588G>A
|
p.Ala530Thr
|
3.0 |
|
B | ||
| 25434 | chr3 | 183492213 | G | A |
c.1580C>T
|
p.Ala527Val
|
3.0 |
|
B | ||
| 11028 | chr3 | 183492223 | C | A |
c.1570G>T
|
p.Ala524Ser
|
3.0 |
|
B | ||
| 33392 | chr3 | 183492634 | C | T |
c.1424G>A
|
p.Gly475Glu
|
3.0 |
|
B | ||
| 4207 | chr3 | 183492679 | G | A |
c.1379C>T
|
p.Ser460Phe
|
- | 3.0 |
|
B | |
| 14280 | chr3 | 183494261 | C | T |
c.1168G>A
|
p.Asp390Asn
|
- | 3.0 |
|
B | |
| 10036 | chr3 | 183499712 | G | A |
c.1025C>T
|
p.Pro342Leu
|
- | 3.0 |
|
B | |
| 4200 | chr3 | 183499825 | G | A |
c.912C>T
|
p.Ile304=
|
- | 3.0 |
|
B | |
| 10467 | chr3 | 183508180 | A | T |
c.788T>A
|
p.Leu263Ter
|
- | 4.0 |
|
B | |
| 27221 | chr3 | 183508378 | A | T |
c.590T>A
|
p.Ile197Asn
|
- | 3.0 |
|
B | |
| 17260 | chr3 | 183527969 | C | T |
c.335G>A
|
p.Arg112Lys
|
3.0 |
|
B | ||
| 6988 | chr3 | 183555358 | G | T |
c.293+3C>A
|
-
|
- | 3.0 |
|
B | |
| 487 | chr3 | 183555458 | G | A |
c.196C>T
|
p.Arg66Ter
|
4.0 |
|
B | ||
| 19247 | chr3 | 183555504 | G | A |
c.150C>T
|
p.Asp50=
|
3.0 |
|
B | ||
| 9090 | chr3 | 183775955 | CGGA | C |
c.2436_2438del
|
p.Gly814del
|
2.0 |
|
B | ||
| 3628 | chr3 | 184244660 | G | A |
-
c.667C>T
|
-
p.Leu223Phe
|
- | 3.0 |
|
B | |
| 18525 | chr3 | 185329257 | TG | T |
c.-86+43615del
|
-
|
- | 3.0 |
|
B | |
| 9612 | chr3 | 185428625 | A | G |
c.44A>G
|
p.His15Arg
|
3.0 |
|
B | ||
| 29064 | chr3 | 185428668 | T | G |
c.87T>G
|
p.Asp29Glu
|
3.0 |
|
B | ||
| 12265 | chr3 | 185428699 | C | T |
c.118C>T
|
p.Pro40Ser
|
- | 3.0 |
|
B |