Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10040 | chr11 | 72229715 | C | T |
c.806C>T
|
p.Ser269Leu
|
3.0 |
|
B | ||
| 16451 | chr11 | 72230142 | G | A |
c.961G>A
|
p.Gly321Ser
|
- | 3.0 |
|
B | |
| 10642 | chr11 | 72230361 | G | C |
c.1091-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 30287 | chr11 | 72230430 | C | CGGACTCAG |
c.1160_1167dup
|
p.Arg390GlyfsTer25
|
- | 3.5 |
|
B | |
| 8053 | chr11 | 72230472 | A | C |
c.1197+4A>C
|
-
|
- | 3.0 |
|
B | |
| 17185 | chr11 | 72230478 | A | G |
c.1197+10A>G
|
-
|
- | 3.0 |
|
B | |
| 34851 | chr11 | 72231008 | C | T |
c.1316C>T
|
p.Pro439Leu
|
- | 3.0 |
|
B | |
| 28463 | chr11 | 72231126 | C | G |
c.1434C>G
|
p.Asp478Glu
|
- | 3.0 |
|
B | |
| 31368 | chr11 | 72231142 | C | A |
c.1450C>A
|
p.Leu484Ile
|
- | 3.0 |
|
B | |
| 20679 | chr11 | 72232329 | ACGGCTCGGTGAGGGGGCGCCTTT | A |
c.1707_1712+17del
|
p.?
|
- | 4.0 |
|
B | |
| 20680 | chr11 | 72232353 | C | G |
c.1712+17C>G
|
-
|
- | 3.0 |
|
B | |
| 14344 | chr11 | 72232867 | C | T |
c.1852-8C>T
|
-
|
2.0 |
|
B | ||
| 4082 | chr11 | 72233070 | C | T |
c.1952-5C>T
|
-
|
- | 3.0 |
|
B | |
| 11393 | chr11 | 72233090 | C | T |
c.1967C>T
|
p.Ser656Phe
|
3.0 |
|
B | ||
| 20531 | chr11 | 72233125 | C | T |
c.2002C>T
|
p.Arg668Trp
|
3.0 |
|
B | ||
| 26770 | chr11 | 72233132 | C | T |
c.2009C>T
|
p.Thr670Ile
|
3.0 |
|
B | ||
| 6226 | chr11 | 72233162 | G | C |
c.2039G>C
|
p.Gly680Ala
|
- | 3.0 |
|
B | |
| 12981 | chr11 | 72233456 | C | T |
c.2056C>T
|
p.Pro686Ser
|
- | 3.0 |
|
B | |
| 8065 | chr11 | 72233495 | GAAACT | G |
c.2096_2100del
|
p.Glu699AlafsTer11
|
- | 3.5 |
|
B | |
| 9149 | chr11 | 72233517 | C | T |
c.2117C>T
|
p.Ser706Phe
|
- | 3.0 |
|
B |