Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17954 | chr4 | 74382647 | G | A |
c.281G>A
|
p.Cys94Tyr
|
- | 3.0 |
|
B | |
| 30734 | chr4 | 74384761 | G | A |
c.463G>A
|
p.Glu155Lys
|
3.0 |
|
B | ||
| 32162 | chr4 | 74445390 | C | CTT |
c.46_47dup
|
p.Leu16PhefsTer2
|
- | 3.0 |
|
B | |
| 31102 | chr4 | 74445414 | T | A |
c.61+8T>A
|
-
|
- | 3.0 |
|
B | |
| 31963 | chr4 | 74446596 | G | T |
c.124G>T
|
p.Gly42Trp
|
- | 3.0 |
|
B | |
| 7353 | chr4 | 74446599 | G | T |
c.127G>T
|
p.Asp43Tyr
|
- | 3.0 |
|
B | |
| 2895 | chr4 | 74446663 | C | T |
c.191C>T
|
p.Ser64Phe
|
- | 3.0 |
|
B | |
| 26083 | chr4 | 74446692 | G | A |
c.220G>A
|
p.Glu74Lys
|
- | 3.0 |
|
B | |
| 12385 | chr4 | 74449080 | C | T |
c.344C>T
|
p.Thr115Met
|
3.0 |
|
B | ||
| 9848 | chr4 | 74449106 | C | G |
c.370C>G
|
p.Pro124Ala
|
- | 3.0 |
|
B | |
| 29319 | chr4 | 74449123 | G | T |
c.387G>T
|
p.Lys129Asn
|
- | 3.0 |
|
B | |
| 6610 | chr4 | 74449257 | T | C |
c.512+9T>C
|
-
|
- | 3.0 |
|
B | |
| 9295 | chr4 | 74449258 | C | T |
c.512+10C>T
|
-
|
- | 3.0 |
|
B | |
| 10086 | chr4 | 74450425 | G | A |
c.558G>A
|
p.Met186Ile
|
- | 3.0 |
|
B | |
| 32808 | chr4 | 74450474 | G | T |
c.607G>T
|
p.Ala203Ser
|
- | 3.0 |
|
B | |
| 16715 | chr4 | 74452560 | G | T |
c.682G>T
|
p.Val228Phe
|
- | 3.0 |
|
B | |
| 20898 | chr4 | 74452572 | G | A |
c.694G>A
|
p.Glu232Lys
|
- | 3.0 |
|
B | |
| 4077 | chr4 | 74452591 | G | A |
c.713G>A
|
p.Arg238Gln
|
3.0 |
|
B | ||
| 19301 | chr4 | 74454769 | T | A |
c.*29T>A
|
-
|
- | 3.0 |
|
B | |
| 14192 | chr4 | 74454838 | G | A |
c.*98G>A
|
-
|
3.0 |
|
B |