Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15260 | chr5 | 79314678 | C | G |
c.2486C>G
|
p.Ala829Gly
|
3.0 |
|
B | ||
| 5172 | chr5 | 79734871 | A | ATCTTCTTTGGAAG |
c.6106_6107insTCTTCTTTGGAAG
|
p.Ser2036IlefsTer10
|
- | 3.0 |
|
B | |
| 10934 | chr5 | 80654727 | C | T |
c.-1C>T
c.-238G>A
|
-
-
|
- | 3.0 |
|
B | |
| 3171 | chr5 | 80654799 | G | T |
c.72G>T
c.-310C>A
|
p.Leu24Phe
-
|
- | 3.0 |
|
B | |
| 16122 | chr5 | 80656490 | A | T |
c.317A>T
-
|
p.Gln106Leu
-
|
- | 3.0 |
|
B | |
| 33374 | chr5 | 80665379 | A | C |
c.579+16A>C
|
-
|
- | 3.0 |
|
B | |
| 24298 | chr5 | 80670090 | T | A |
c.580-7T>A
|
-
|
- | 3.0 |
|
B | |
| 32599 | chr5 | 80670317 | G | A |
c.792+8G>A
|
-
|
2.0 |
|
B | ||
| 15434 | chr5 | 80672762 | G | A |
c.931G>A
|
p.Glu311Lys
|
- | 3.0 |
|
B | |
| 30112 | chr5 | 80672826 | C | T |
c.995C>T
|
p.Ala332Val
|
- | 3.0 |
|
B | |
| 25761 | chr5 | 80672876 | G | A |
c.1027+18G>A
|
-
|
- | 3.0 |
|
B | |
| 1845 | chr5 | 80675026 | T | G |
c.1071T>G
|
p.Asp357Glu
|
- | 3.0 |
|
B | |
| 570 | chr5 | 80675095 | CA | C |
c.1148del
|
p.Lys383ArgfsTer32
|
4.5 |
|
B | ||
| 20313 | chr5 | 80675095 | CAA | C |
c.1147_1148del
|
p.Lys383GlyfsTer20
|
- | 4.0 |
|
B | |
| 6214 | chr5 | 80725487 | G | A |
c.1375G>A
|
p.Asp459Asn
|
- | 3.0 |
|
B | |
| 7257 | chr5 | 80725524 | C | T |
c.1412C>T
|
p.Ala471Val
|
- | 3.0 |
|
B | |
| 2217 | chr5 | 80761544 | A | T |
c.1764-2A>T
|
p.?
|
3.5 |
|
B | ||
| 26391 | chr5 | 80761611 | A | G |
c.1829A>G
|
p.Gln610Arg
|
- | 3.0 |
|
B | |
| 16536 | chr5 | 80775728 | G | A |
c.2288G>A
|
p.Cys763Tyr
|
3.0 |
|
B | ||
| 34970 | chr5 | 80778787 | C | T |
c.2386C>T
|
p.Arg796Trp
|
3.0 |
|
B |