Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10411 | chr20 | 47639103 | G | A |
c.2608G>A
|
p.Val870Ile
|
3.0 |
|
B | ||
| 10412 | chr20 | 47639180 | G | T |
c.2685G>T
|
p.Gln895His
|
- | 3.0 |
|
B | |
| 10413 | chr20 | 47639202 | G | C |
c.2707G>C
|
p.Gly903Arg
|
3.0 |
|
B | ||
| 20916 | chr20 | 47639697 | G | A |
c.2828G>A
|
p.Gly943Glu
|
3.0 |
|
B | ||
| 26838 | chr20 | 47639921 | C | T |
c.2954-4C>T
|
-
|
- | 3.0 |
|
B | |
| 10490 | chr20 | 47639942 | A | G |
c.2971A>G
|
p.Met991Val
|
- | 3.0 |
|
B | |
| 31226 | chr20 | 47642220 | C | T |
c.3088C>T
|
p.Leu1030Phe
|
- | 3.0 |
|
B | |
| 12582 | chr20 | 47647112 | C | T |
c.3292C>T
|
p.Gln1098Ter
|
3.0 |
|
B | ||
| 9409 | chr20 | 47647172 | C | G |
c.3352C>G
|
p.Gln1118Glu
|
- | 3.0 |
|
B | |
| 10320 | chr20 | 47648997 | C | T |
c.3547-8C>T
|
-
|
- | 3.0 |
|
B | |
| 3754 | chr20 | 47651000 | C | T |
c.3670C>T
|
p.Gln1224Ter
|
- | 3.0 |
|
B | |
| 8737 | chr20 | 47651094 | A | C |
c.3764A>C
|
p.Gln1255Pro
|
- | 3.0 |
|
B | |
| 17554 | chr20 | 47651147 | C | T |
c.3817C>T
|
p.Gln1273Ter
|
- | 3.0 |
|
B | |
| 14099 | chr20 | 47651175 | C | T |
c.3845C>T
|
p.Pro1282Leu
|
- | 3.0 |
|
B | |
| 9824 | chr20 | 49241966 | CA | C |
-
c.1979del
|
-
p.Lys660ArgfsTer4
|
3.0 |
|
B | ||
| 19805 | chr20 | 49241966 | CAA | C |
-
c.1978_1979del
|
-
p.Lys660GlyfsTer12
|
- | 3.0 |
|
B | |
| 32673 | chr20 | 50563018 | AAGTAC | A |
c.154+1570_154+1574del
|
-
|
- | 3.0 |
|
B | |
| 31047 | chr20 | 50565083 | CTGAATTTTCTATTTAATGTCAATT | C |
c.255+16_255+39del
|
-
|
- | 3.0 |
|
B | |
| 21829 | chr20 | 50578635 | G | A |
c.702+6G>A
|
-
|
- | 3.0 |
|
B | |
| 32394 | chr20 | 50579319 | C | T |
c.854C>T
|
p.Ser285Phe
|
3.0 |
|
B |