Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13916 | chr7 | 143356678 | G | C |
-
c.955C>G
|
-
p.Arg319Gly
|
- | 3.0 |
|
B | |
| 32330 | chr7 | 143356699 | C | G |
-
c.934G>C
|
-
p.Glu312Gln
|
- | 3.0 |
|
B | |
| 32030 | chr7 | 143356732 | C | G |
-
c.901G>C
|
-
p.Ala301Pro
|
3.0 |
|
B | ||
| 20556 | chr7 | 143357032 | G | A |
-
c.611-10C>T
|
-
-
|
- | 3.0 |
|
B | |
| 34600 | chr7 | 143357382 | C | A |
c.508G>T
|
p.Ala170Ser
|
- | 3.0 |
|
B | |
| 25918 | chr7 | 143357442 | C | A |
c.467-19G>T
|
-
|
- | 3.0 |
|
B | |
| 27072 | chr7 | 143358837 | ACGTGCCTCCTTCTCGCCATCGCTGAGGTCGGAGTAGGCATC | A |
c.415_455del
|
p.Asp139PhefsTer13
|
- | 3.0 |
|
B | |
| 17789 | chr7 | 143359008 | C | T |
c.285G>A
|
p.Met95Ile
|
- | 3.0 |
|
B | |
| 13338 | chr7 | 148730262 | C | G |
c.140C>G
|
p.Thr47Ser
|
- | 3.0 |
|
B | |
| 7500 | chr7 | 148754026 | G | A |
c.191G>A
|
p.Gly64Glu
|
- | 3.0 |
|
B | |
| 25057 | chr7 | 148754115 | G | A |
c.280G>A
|
p.Glu94Lys
|
- | 3.0 |
|
B | |
| 27018 | chr7 | 148754156 | A | G |
c.315+6A>G
|
-
|
3.0 |
|
B | ||
| 12065 | chr7 | 148757002 | A | T |
c.335A>T
|
p.Asp112Val
|
- | 3.0 |
|
B | |
| 27002 | chr7 | 148757035 | G | T |
c.368G>T
|
p.Trp123Leu
|
- | 3.0 |
|
B | |
| 30186 | chr7 | 148759287 | T | C |
c.484-17T>C
|
-
|
- | 3.0 |
|
B | |
| 19611 | chr7 | 148759289 | CT | C |
c.484-7del
|
-
|
3.0 |
|
B | ||
| 26195 | chr7 | 148759544 | A | G |
c.535-4A>G
|
-
|
3.0 |
|
B | ||
| 8780 | chr7 | 148767724 | A | G |
c.1058A>G
|
p.Glu353Gly
|
3.0 |
|
B | ||
| 27532 | chr7 | 148767752 | A | T |
c.1083+3A>T
|
-
|
- | 3.0 |
|
B | |
| 12189 | chr7 | 148783830 | C | A |
c.1131C>A
|
p.Tyr377Ter
|
- | 3.0 |
|
B |