Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29792 | chr5 | 177211407 | G | C |
c.3008G>C
|
p.Arg1003Thr
|
3.0 |
|
B | ||
| 27447 | chr5 | 177211415 | C | T |
c.3016C>T
|
p.Pro1006Ser
|
3.0 |
|
B | ||
| 17006 | chr5 | 177211434 | G | T |
c.3035G>T
|
p.Arg1012Leu
|
- | 3.0 |
|
B | |
| 8503 | chr5 | 177211482 | C | T |
c.3083C>T
|
p.Ser1028Phe
|
- | 3.0 |
|
B | |
| 9979 | chr5 | 177211490 | C | T |
c.3091C>T
|
p.Arg1031Ter
|
3.5 |
|
B | ||
| 28106 | chr5 | 177211533 | G | A |
c.3134G>A
|
p.Arg1045His
|
2.5 |
|
B | ||
| 17027 | chr5 | 177211746 | A | G |
c.3347A>G
|
p.Gln1116Arg
|
3.0 |
|
B | ||
| 22863 | chr5 | 177211778 | C | T |
c.3379C>T
|
p.Leu1127Phe
|
- | 3.0 |
|
B | |
| 2102 | chr5 | 177235841 | C | T |
c.3817C>T
|
p.Arg1273Cys
|
3.0 |
|
B | ||
| 25810 | chr5 | 177238243 | T | C |
c.3928T>C
|
p.Ser1310Pro
|
- | 3.0 |
|
B | |
| 34469 | chr5 | 177239780 | G | C |
c.4217G>C
|
p.Arg1406Thr
|
- | 3.0 |
|
B | |
| 31966 | chr5 | 177244273 | G | A |
c.4378+3G>A
|
-
|
3.0 |
|
B | ||
| 16727 | chr5 | 177246747 | G | A |
c.4448G>A
|
p.Cys1483Tyr
|
3.0 |
|
B | ||
| 34470 | chr5 | 177248220 | G | A |
c.4537G>A
|
p.Glu1513Lys
|
- | 3.0 |
|
B | |
| 16728 | chr5 | 177248254 | G | A |
c.4571G>A
|
p.Gly1524Glu
|
- | 3.0 |
|
B | |
| 34471 | chr5 | 177248296 | G | A |
c.4613G>A
|
p.Gly1538Glu
|
- | 3.0 |
|
B | |
| 30918 | chr5 | 177251769 | C | T |
c.4681C>T
|
p.Gln1561Ter
|
3.5 |
|
B | ||
| 5295 | chr5 | 177251848 | G | A |
c.4760G>A
|
p.Arg1587His
|
3.0 |
|
B | ||
| 18228 | chr5 | 177257034 | G | A |
c.4849G>A
|
p.Glu1617Lys
|
- | 3.0 |
|
B | |
| 32280 | chr5 | 177257154 | A | T |
c.4966+3A>T
|
-
|
- | 3.0 |
|
B |