Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5653 | chr5 | 14507122 | G | T |
c.8613G>T
|
p.Met2871Ile
|
- | 3.0 |
|
B | |
| 806 | chr5 | 14507136 | G | A |
c.8627G>A
|
p.Arg2876His
|
3.0 |
|
B | ||
| 1096 | chr5 | 14507172 | C | T |
c.8663C>T
|
p.Thr2888Ile
|
- | 3.0 |
|
B | |
| 19444 | chr5 | 14507923 | T | A |
c.8795T>A
|
p.Ile2932Asn
|
- | 3.0 |
|
B | |
| 13944 | chr5 | 14508191 | G | C |
c.9063G>C
|
p.Gln3021His
|
- | 3.0 |
|
B | |
| 21450 | chr5 | 23509071 | A | G |
c.38A>G
|
p.Glu13Gly
|
- | 3.0 |
|
B | |
| 16969 | chr5 | 23509463 | C | A |
c.70-7C>A
|
-
|
3.0 |
|
B | ||
| 6964 | chr5 | 23509515 | G | C |
c.115G>C
|
p.Glu39Gln
|
- | 3.0 |
|
B | |
| 21377 | chr5 | 23509612 | C | A |
c.193+19C>A
|
-
|
- | 3.0 |
|
B | |
| 7806 | chr5 | 23509934 | C | T |
c.208C>T
|
p.Arg70Ter
|
3.0 |
|
B | ||
| 34529 | chr5 | 23509937 | C | T |
c.211C>T
|
p.Pro71Ser
|
- | 3.0 |
|
B | |
| 18779 | chr5 | 23509956 | G | A |
c.230G>A
|
p.Arg77Gln
|
3.0 |
|
B | ||
| 2572 | chr5 | 23509959 | G | T |
c.233G>T
|
p.Arg78Met
|
- | 3.0 |
|
B | |
| 5067 | chr5 | 23509960 | G | T |
c.234G>T
|
p.Arg78Ser
|
3.0 |
|
B | ||
| 15888 | chr5 | 23510027 | G | T |
c.301G>T
|
p.Val101Phe
|
- | 3.0 |
|
B | |
| 27500 | chr5 | 23510034 | G | A |
c.301+7G>A
|
-
|
- | 3.0 |
|
B | |
| 22298 | chr5 | 23510036 | G | A |
c.301+9G>A
|
-
|
- | 3.0 |
|
B | |
| 28414 | chr5 | 23517861 | G | A |
c.302-20G>A
|
-
|
- | 3.0 |
|
B | |
| 2943 | chr5 | 23517872 | AC | A |
c.302-7del
|
-
|
- | 3.0 |
|
B | |
| 3946 | chr5 | 23517913 | C | A |
c.334C>A
|
p.Gln112Lys
|
- | 3.0 |
|
B |