Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7194 | chr6 | 113953374 | C | T |
c.542G>A
|
p.Gly181Asp
|
- | 3.0 |
|
B | |
| 31968 | chr6 | 113956008 | C | G |
c.497+5G>C
|
-
|
- | 3.0 |
|
B | |
| 9092 | chr6 | 113956050 | C | T |
c.460G>A
|
p.Val154Ile
|
3.0 |
|
B | ||
| 1979 | chr6 | 113956132 | G | C |
c.378C>G
|
p.Asn126Lys
|
- | 3.0 |
|
B | |
| 28332 | chr6 | 113956628 | C | T |
c.349G>A
|
p.Gly117Ser
|
3.0 |
|
B | ||
| 21223 | chr6 | 113958728 | A | C |
c.204T>G
|
p.Tyr68Ter
|
- | 3.0 |
|
B | |
| 33101 | chr6 | 113958760 | G | T |
c.172C>A
|
p.His58Asn
|
- | 3.0 |
|
B | |
| 21618 | chr6 | 113971058 | G | A |
c.-150C>T
|
-
|
- | 3.0 |
|
B | |
| 23049 | chr6 | 113971065 | C | T |
c.-157G>A
|
-
|
3.0 |
|
B | ||
| 4683 | chr6 | 116792613 | A | AG |
c.2309dup
|
p.Lys772GlnfsTer5
|
- | 3.0 |
|
B | |
| 26605 | chr6 | 117288509 | C | T |
c.7009G>A
|
p.Gly2337Arg
|
- | 3.0 |
|
B | |
| 8739 | chr6 | 117288595 | T | C |
c.6923A>G
|
p.Asp2308Gly
|
- | 3.0 |
|
B | |
| 11318 | chr6 | 117288739 | G | A |
c.6779C>T
|
p.Thr2260Met
|
3.0 |
|
B | ||
| 32022 | chr6 | 117288800 | C | A |
c.6718G>T
|
p.Glu2240Ter
|
- | 3.0 |
|
B | |
| 34016 | chr6 | 117301095 | T | A |
c.6594A>T
|
p.Gln2198His
|
- | 3.0 |
|
B | |
| 4597 | chr6 | 117301113 | C | A |
c.6576G>T
|
p.Trp2192Cys
|
- | 3.0 |
|
B | |
| 31213 | chr6 | 117308795 | G | A |
c.6550C>T
|
p.Leu2184=
|
- | 3.0 |
|
B | |
| 28902 | chr6 | 117308876 | G | A |
c.6469C>T
|
p.Pro2157Ser
|
- | 3.0 |
|
B | |
| 7933 | chr6 | 117308920 | C | T |
c.6425G>A
|
p.Gly2142Glu
|
- | 3.0 |
|
B | |
| 21859 | chr6 | 117310061 | C | T |
c.6416+20G>A
|
-
|
- | 3.0 |
|
B |