Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33797 | chr8 | 47834234 | A | AAG |
c.8113_8114insCT
|
p.Leu2705ProfsTer13
|
- | 3.5 |
|
B | |
| 25553 | chr8 | 47834276 | G | A |
c.8072C>T
|
p.Ala2691Val
|
3.0 |
|
B | ||
| 29823 | chr8 | 47836365 | GCTGCTGCTGGGTGGCCCTTATCTGCC | G |
c.7898_7923del
|
p.Gly2633AlafsTer2
|
- | 3.5 |
|
B | |
| 17873 | chr8 | 47836387 | C | G |
c.7902G>C
|
p.Gln2634His
|
3.0 |
|
B | ||
| 31037 | chr8 | 47836422 | C | T |
c.7867G>A
|
p.Gly2623Arg
|
- | 3.0 |
|
B | |
| 22620 | chr8 | 47836497 | G | A |
c.7792C>T
|
p.Arg2598Ter
|
- | 4.0 |
|
B | |
| 7808 | chr8 | 47837214 | G | A |
c.7759C>T
|
p.Gln2587Ter
|
- | 3.5 |
|
B | |
| 12329 | chr8 | 47837228 | G | A |
c.7745C>T
|
p.Ser2582Leu
|
3.0 |
|
B | ||
| 6220 | chr8 | 47837262 | C | G |
c.7711G>C
|
p.Asp2571His
|
- | 3.0 |
|
B | |
| 28636 | chr8 | 47837360 | C | T |
c.7613G>A
|
p.Arg2538Gln
|
3.0 |
|
B | ||
| 34102 | chr8 | 47837414 | A | C |
c.7559T>G
|
p.Ile2520Ser
|
- | 3.0 |
|
B | |
| 4068 | chr8 | 47837420 | C | T |
c.7554-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 821 | chr8 | 47840038 | T | G |
c.7432A>C
|
p.Met2478Leu
|
- | 3.0 |
|
B | |
| 24395 | chr8 | 47849173 | C | G |
c.7261G>C
|
p.Val2421Leu
|
- | 3.0 |
|
B | |
| 29832 | chr8 | 47849309 | G | A |
c.7131-6C>T
|
-
|
2.0 |
|
B | ||
| 26094 | chr8 | 47849392 | G | A |
c.7117C>T
|
p.Pro2373Ser
|
- | 3.0 |
|
B | |
| 26095 | chr8 | 47849395 | G | A |
c.7114C>T
|
p.Pro2372Ser
|
3.0 |
|
B | ||
| 31278 | chr8 | 47849417 | C | G |
c.7092G>C
|
p.Leu2364Phe
|
- | 3.0 |
|
B | |
| 29756 | chr8 | 47849453 | A | C |
c.7056T>G
|
p.His2352Gln
|
- | 3.0 |
|
B | |
| 29757 | chr8 | 47849463 | A | C |
c.7046T>G
|
p.Leu2349Trp
|
- | 3.0 |
|
B |