Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 592 | chr6 | 27872217 | G | A |
-
c.99C>T
-
|
-
p.Thr33=
-
|
- | 3.0 |
|
B | |
| 27424 | chr6 | 27872243 | C | T |
-
c.73G>A
-
|
-
p.Ala25Thr
-
|
- | 3.0 |
|
B | |
| 6569 | chr6 | 27872255 | G | A |
-
c.61C>T
-
|
-
p.Leu21=
-
|
2.0 |
|
B | ||
| 807 | chr6 | 27872282 | T | C |
-
c.34A>G
-
|
-
p.Thr12Ala
-
|
- | 3.0 |
|
B | |
| 2430 | chr6 | 27872309 | G | A |
-
c.7C>T
-
|
-
p.Arg3Ter
-
|
3.5 |
|
B | ||
| 10197 | chr6 | 27872325 | G | C |
-
c.-10C>G
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 31182 | chr6 | 27873383 | C | A |
-
c.128G>T
|
-
p.Gly43Val
|
- | 3.0 |
|
B | |
| 9004 | chr6 | 27890513 | G | T |
c.280C>A
-
-
|
p.Gln94Lys
-
-
|
- | 3.0 |
|
B | |
| 13817 | chr6 | 27890643 | A | C |
c.150T>G
-
-
|
p.Arg50=
-
-
|
3.0 |
|
B | ||
| 2072 | chr6 | 27890664 | C | A |
c.129G>T
-
-
|
p.Arg43Ser
-
-
|
- | 3.0 |
|
B | |
| 22086 | chr6 | 27890777 | G | T |
c.16C>A
-
-
|
p.Gln6Lys
-
-
|
- | 3.0 |
|
B | |
| 4669 | chr6 | 28510907 | G | A |
c.88-3C>T
|
-
|
- | 3.0 |
|
B | |
| 33490 | chr6 | 28904305 | A | T |
c.1307T>A
|
p.Val436Glu
|
- | 3.0 |
|
B | |
| 31402 | chr6 | 28904497 | T | A |
c.1115A>T
|
p.Tyr372Phe
|
- | 3.0 |
|
B | |
| 17061 | chr6 | 28904560 | G | A |
c.1052C>T
|
p.Pro351Leu
|
- | 3.0 |
|
B | |
| 28695 | chr6 | 28911725 | G | A |
c.748-7C>T
|
-
|
3.0 |
|
B | ||
| 26551 | chr6 | 28920254 | A | C |
c.517-12T>G
|
-
|
- | 3.0 |
|
B | |
| 20007 | chr6 | 28923600 | C | G |
c.33G>C
|
p.Gln11His
|
- | 3.0 |
|
B | |
| 2898 | chr6 | 29044812 | G | A |
c.364C>T
|
p.Arg122Cys
|
3.0 |
|
B | ||
| 25594 | chr6 | 29942581 | C | G |
c.28C>G
|
p.Leu10Val
|
1.0 |
|
B |