Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4676 | chr6 | 89684980 | G | A |
c.11725C>T
|
p.Leu3909Phe
|
3.0 |
|
B | ||
| 4496 | chr6 | 90008645 | A | G |
c.200T>C
|
p.Val67Ala
|
3.0 |
|
B | ||
| 29700 | chr6 | 93243489 | C | T |
c.2934G>A
|
p.Met978Ile
|
- | 3.0 |
|
B | |
| 25882 | chr6 | 93243543 | G | T |
c.2883-3C>A
|
-
|
- | 3.0 |
|
B | |
| 31270 | chr6 | 93245299 | C | G |
c.2881G>C
|
p.Glu961Gln
|
- | 3.0 |
|
B | |
| 25500 | chr6 | 93245321 | T | G |
c.2859A>C
|
p.Glu953Asp
|
- | 3.0 |
|
B | |
| 2714 | chr6 | 93245368 | C | A |
c.2812G>T
|
p.Glu938Ter
|
- | 3.5 |
|
B | |
| 10078 | chr6 | 93245371 | T | C |
c.2809A>G
|
p.Met937Val
|
- | 3.0 |
|
B | |
| 677 | chr6 | 93245445 | C | T |
c.2735G>A
|
p.Ser912Asn
|
- | 3.0 |
|
B | |
| 8077 | chr6 | 93246788 | T | C |
c.2726+4A>G
|
-
|
- | 3.0 |
|
B | |
| 8384 | chr6 | 93246834 | C | T |
c.2684G>A
|
p.Arg895Gln
|
3.0 |
|
B | ||
| 23632 | chr6 | 93246889 | G | T |
c.2629C>A
|
p.Arg877Ser
|
3.0 |
|
B | ||
| 10522 | chr6 | 93246957 | C | A |
c.2561G>T
|
p.Arg854Leu
|
- | 3.0 |
|
B | |
| 21913 | chr6 | 93246982 | T | C |
c.2536A>G
|
p.Ile846Val
|
- | 3.0 |
|
B | |
| 22313 | chr6 | 93246984 | A | G |
c.2534T>C
|
p.Val845Ala
|
- | 3.0 |
|
B | |
| 28484 | chr6 | 93247000 | G | A |
c.2533-15C>T
|
-
|
- | 3.0 |
|
B | |
| 10088 | chr6 | 93254652 | G | A |
c.2527C>T
|
p.Gln843Ter
|
- | 4.0 |
|
B | |
| 29498 | chr6 | 93254666 | C | A |
c.2513G>T
|
p.Trp838Leu
|
- | 3.0 |
|
B | |
| 24332 | chr6 | 93254717 | C | T |
c.2462G>A
|
p.Ser821Asn
|
3.0 |
|
B | ||
| 3257 | chr6 | 93254747 | C | T |
c.2432G>A
|
p.Arg811Gln
|
3.0 |
|
B |