Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33204 | chr6 | 136278202 | G | T |
c.679C>A
|
p.His227Asn
|
- | 3.0 |
|
B | |
| 32924 | chr6 | 136278277 | A | T |
c.604T>A
|
p.Phe202Ile
|
- | 3.0 |
|
B | |
| 7534 | chr6 | 136278348 | G | A |
c.533C>T
|
p.Pro178Leu
|
3.0 |
|
B | ||
| 4343 | chr6 | 136278394 | C | T |
c.487G>A
|
p.Glu163Lys
|
3.0 |
|
B | ||
| 940 | chr6 | 136278519 | G | A |
c.362C>T
|
p.Ser121Phe
|
- | 3.0 |
|
B | |
| 13334 | chr6 | 136278564 | C | A |
c.317G>T
|
p.Arg106Ile
|
3.0 |
|
B | ||
| 8050 | chr6 | 136279802 | C | T |
c.65G>A
|
p.Arg22Gln
|
3.0 |
|
B | ||
| 3307 | chr6 | 136389517 | G | A |
c.245C>T
|
p.Ala82Val
|
- | 3.0 |
|
B | |
| 26317 | chr6 | 137198159 | C | T |
c.1342G>A
|
p.Val448Ile
|
3.0 |
|
B | ||
| 11907 | chr6 | 137198216 | C | T |
c.1285G>A
|
p.Glu429Lys
|
- | 3.0 |
|
B | |
| 25305 | chr6 | 137198263 | T | C |
c.1238A>G
|
p.Asp413Gly
|
3.0 |
|
B | ||
| 20226 | chr6 | 137198367 | A | ACT |
c.1132_1133dup
|
p.Ser378ArgfsTer6
|
- | 3.5 |
|
B | |
| 20023 | chr6 | 137198367 | ACT | A |
c.1132_1133del
|
p.Ser378PhefsTer6
|
3.5 |
|
B | ||
| 32339 | chr6 | 137198458 | T | C |
c.1043A>G
|
p.Glu348Gly
|
- | 3.0 |
|
B | |
| 32414 | chr6 | 137198612 | C | G |
c.889G>C
|
p.Glu297Gln
|
- | 3.0 |
|
B | |
| 19473 | chr6 | 137200860 | TA | T |
c.861+20del
|
-
|
3.0 |
|
B | ||
| 2970 | chr6 | 137200993 | G | T |
c.749C>A
|
p.Pro250Gln
|
- | 3.0 |
|
B | |
| 6468 | chr6 | 137206177 | G | T |
c.332C>A
|
p.Ser111Tyr
|
- | 3.0 |
|
B | |
| 731 | chr6 | 137206181 | C | T |
c.328G>A
|
p.Glu110Lys
|
- | 3.0 |
|
B | |
| 10334 | chr6 | 137206241 | G | A |
c.268C>T
|
p.His90Tyr
|
- | 3.0 |
|
B |