Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21984 | chr7 | 142944637 | C | T |
c.1413+6G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 10737 | chr7 | 142944722 | G | A |
c.1334C>T
-
|
p.Ala445Val
-
|
3.0 |
|
B | ||
| 6282 | chr7 | 142944736 | C | G |
c.1320G>C
-
|
p.Met440Ile
-
|
- | 3.0 |
|
B | |
| 13791 | chr7 | 142946192 | A | C |
c.1314+15T>G
|
-
|
- | 3.0 |
|
B | |
| 866 | chr7 | 142946214 | C | T |
c.1307G>A
|
p.Arg436Gln
|
2.5 |
|
B | ||
| 8172 | chr7 | 142952511 | T | A |
c.1201A>T
|
p.Met401Leu
|
- | 3.0 |
|
B | |
| 1229 | chr7 | 142952585 | G | C |
c.1127C>G
|
p.Ala376Gly
|
- | 3.0 |
|
B | |
| 33284 | chr7 | 142952607 | G | T |
c.1105C>A
|
p.Leu369Met
|
- | 3.0 |
|
B | |
| 35289 | chr7 | 142952638 | C | T |
c.1074G>A
|
p.Arg358=
|
3.0 |
|
B | ||
| 5026 | chr7 | 142953804 | G | A |
c.1073+4C>T
|
-
|
3.0 |
|
B | ||
| 21314 | chr7 | 142953830 | C | A |
c.1051G>T
|
p.Glu351Ter
|
3.0 |
|
B | ||
| 1448 | chr7 | 142953925 | C | A |
c.956G>T
|
p.Cys319Phe
|
- | 3.0 |
|
B | |
| 12732 | chr7 | 142953928 | G | A |
c.953C>T
|
p.Ser318Phe
|
- | 3.0 |
|
B | |
| 23158 | chr7 | 142954186 | T | G |
c.922A>C
|
p.Lys308Gln
|
- | 3.0 |
|
B | |
| 9378 | chr7 | 142954234 | G | A |
c.874C>T
|
p.Arg292Trp
|
3.0 |
|
B | ||
| 15864 | chr7 | 142954243 | G | C |
c.865C>G
|
p.Leu289Val
|
- | 3.0 |
|
B | |
| 18305 | chr7 | 142954383 | G | A |
c.736-11C>T
|
-
|
3.0 |
|
B | ||
| 31908 | chr7 | 142957921 | G | T |
c.578C>A
|
p.Thr193Lys
|
- | 3.0 |
|
B | |
| 4149 | chr7 | 142957939 | G | A |
c.560C>T
|
p.Ser187Phe
|
- | 3.0 |
|
B | |
| 34830 | chr7 | 142957960 | C | T |
c.539G>A
|
p.Arg180His
|
3.0 |
|
B |