Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23053 | chr7 | 66988483 | G | A |
c.641C>T
|
p.Pro214Leu
|
3.0 |
|
B | ||
| 16448 | chr7 | 66991154 | C | A |
c.607G>T
|
p.Gly203Cys
|
- | 3.0 |
|
B | |
| 25819 | chr7 | 66991305 | C | A |
c.460-4G>T
|
-
|
- | 3.0 |
|
B | |
| 19001 | chr7 | 66993269 | G | A |
-
c.407C>T
|
-
p.Ala136Val
|
- | 3.0 |
|
B | |
| 4078 | chr7 | 66993290 | G | A |
-
c.386C>T
|
-
p.Thr129Ile
|
- | 3.0 |
|
B | |
| 32267 | chr7 | 66994268 | T | C |
-
c.202A>G
|
-
p.Lys68Glu
|
- | 3.0 |
|
B | |
| 22882 | chr7 | 66995277 | G | A |
-
c.128+13C>T
|
-
-
|
- | 3.0 |
|
B | |
| 22159 | chr7 | 66995298 | C | T |
-
c.120G>A
|
-
p.Arg40=
|
- | 3.0 |
|
B | |
| 32685 | chr7 | 66995359 | A | T |
-
c.59T>A
|
-
p.Met20Lys
|
- | 3.5 |
|
B | |
| 3419 | chr7 | 71677214 | C | T |
c.1408C>T
|
p.Arg470Cys
|
3.0 |
|
B | ||
| 4834 | chr7 | 73616067 | T | A |
c.400+4A>T
|
-
|
- | 3.0 |
|
B | |
| 11464 | chr7 | 74028176 | T | C |
c.-12T>C
|
-
|
- | 3.0 |
|
B | |
| 31034 | chr7 | 74028274 | G | A |
c.82+5G>A
|
-
|
- | 3.0 |
|
B | |
| 16747 | chr7 | 74041248 | G | A |
c.229G>A
|
p.Ala77Thr
|
3.0 |
|
B | ||
| 20028 | chr7 | 74042637 | A | G |
c.256A>G
|
p.Thr86Ala
|
- | 3.0 |
|
B | |
| 28806 | chr7 | 74045222 | G | A |
c.470G>A
|
p.Gly157Glu
|
3.0 |
|
B | ||
| 18112 | chr7 | 74046780 | G | A |
c.643+13G>A
|
-
|
- | 3.0 |
|
B | |
| 31276 | chr7 | 74048131 | C | G |
c.686-11C>G
|
-
|
- | 3.0 |
|
B | |
| 13145 | chr7 | 74048553 | T | C |
c.796T>C
|
p.Phe266Leu
|
- | 3.0 |
|
B | |
| 13915 | chr7 | 74053210 | G | A |
c.997G>A
|
p.Val333Ile
|
- | 3.0 |
|
B |