Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12106 | chr8 | 17972332 | TA | T |
c.3594del
|
p.Lys1198AsnfsTer22
|
- | 3.0 |
|
B | |
| 16900 | chr8 | 17972423 | G | C |
c.3679G>C
|
p.Gly1227Arg
|
3.0 |
|
B | ||
| 18706 | chr8 | 17972575 | C | G |
c.3831C>G
|
p.Phe1277Leu
|
- | 3.0 |
|
B | |
| 26426 | chr8 | 17980721 | A | G |
c.4074A>G
|
p.Ile1358Met
|
3.0 |
|
B | ||
| 25822 | chr8 | 17983243 | G | T |
c.4109-2204G>T
|
-
|
- | 3.0 |
|
B | |
| 15027 | chr8 | 17985554 | CTCT | C |
c.4219_4221del
|
p.Phe1407del
|
- | 3.0 |
|
B | |
| 16758 | chr8 | 17985630 | C | T |
c.4281+11C>T
|
-
|
3.0 |
|
B | ||
| 13426 | chr8 | 17989848 | C | T |
c.4411-11C>T
|
-
|
3.0 |
|
B | ||
| 11193 | chr8 | 18006363 | A | C |
c.4928A>C
|
p.Lys1643Thr
|
- | 3.0 |
|
B | |
| 24060 | chr8 | 18025399 | A | C |
c.5880A>C
|
p.Glu1960Asp
|
- | 3.0 |
|
B | |
| 3661 | chr8 | 22163110 | G | A |
-
c.232G>A
|
-
p.Ala78Thr
|
- | 3.0 |
|
B | |
| 27289 | chr8 | 22404721 | T | G |
c.11T>G
|
p.Leu4Arg
|
3.0 |
|
B | ||
| 5278 | chr8 | 22690504 | G | A |
c.1133C>T
|
p.Ser378Leu
|
- | 3.0 |
|
B | |
| 19514 | chr8 | 22690508 | CG | C |
c.1128del
|
p.Val377CysfsTer31
|
- | 3.0 |
|
B | |
| 28092 | chr8 | 22690522 | G | GATGC |
c.1111_1114dup
|
p.Ser372CysfsTer36
|
- | 3.0 |
|
B | |
| 30898 | chr8 | 22690628 | ACTCG | A |
c.1005_1008del
|
p.Glu336SerfsTer71
|
- | 3.0 |
|
B | |
| 1833 | chr8 | 22690629 | CTCGCAGG | C |
c.1001_1007del
|
p.Ala334GlyfsTer72
|
- | 3.0 |
|
B | |
| 30899 | chr8 | 22690634 | AGGC | A |
c.1000_1002del
|
p.Ala334del
|
- | 3.0 |
|
B | |
| 1834 | chr8 | 22690637 | C | A |
c.1000G>T
|
p.Ala334Ser
|
- | 3.0 |
|
B | |
| 32306 | chr8 | 22690757 | G | A |
c.880C>T
|
p.Arg294Trp
|
- | 3.0 |
|
B |