Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11545 | chr6 | 93259429 | G | T |
c.1849C>A
|
p.Pro617Thr
|
- | 3.0 |
|
B | |
| 19599 | chr6 | 93260788 | GA | G |
c.1799-1310del
|
-
|
3.0 |
|
B | ||
| 865 | chr6 | 93263878 | C | T |
c.1780G>A
|
p.Glu594Lys
|
- | 3.0 |
|
B | |
| 1704 | chr6 | 93264708 | A | G |
c.1634-6T>C
|
-
|
- | 3.0 |
|
B | |
| 32021 | chr6 | 93264714 | G | T |
c.1634-12C>A
|
-
|
- | 3.0 |
|
B | |
| 22314 | chr6 | 93269560 | G | A |
c.1550C>T
|
p.Ala517Val
|
- | 3.0 |
|
B | |
| 26908 | chr6 | 93269647 | C | T |
c.1463G>A
|
p.Arg488Gln
|
3.0 |
|
B | ||
| 34768 | chr6 | 93269677 | G | C |
c.1450-17C>G
|
-
|
- | 3.0 |
|
B | |
| 26074 | chr6 | 93272389 | C | A |
c.1358G>T
|
p.Arg453Ile
|
- | 3.0 |
|
B | |
| 6156 | chr6 | 93272423 | C | A |
c.1325-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 25052 | chr6 | 93356839 | G | A |
c.1202C>T
|
p.Thr401Ile
|
- | 3.0 |
|
B | |
| 28697 | chr6 | 93356852 | C | T |
c.1189G>A
|
p.Asp397Asn
|
- | 3.0 |
|
B | |
| 33850 | chr6 | 93356873 | G | A |
c.1168C>T
|
p.Pro390Ser
|
- | 3.0 |
|
B | |
| 4307 | chr6 | 93356962 | C | T |
c.1079G>A
|
p.Arg360Lys
|
- | 3.0 |
|
B | |
| 22315 | chr6 | 93356965 | C | T |
c.1076G>A
|
p.Gly359Glu
|
3.0 |
|
B | ||
| 22598 | chr6 | 93357050 | GC | G |
c.990del
|
p.Arg330SerfsTer18
|
- | 4.0 |
|
B | |
| 23734 | chr6 | 93358268 | C | T |
c.976G>A
|
p.Val326Ile
|
3.0 |
|
B | ||
| 24890 | chr6 | 93358289 | C | G |
c.955G>C
|
p.Ala319Pro
|
- | 3.0 |
|
B | |
| 14028 | chr6 | 93410501 | G | A |
c.832C>T
|
p.Pro278Ser
|
1.0 |
|
B | ||
| 10231 | chr6 | 93410576 | C | T |
c.757G>A
|
p.Glu253Lys
|
- | 3.0 |
|
B |