Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8712 | chr17 | 7676037 | A | T |
c.332T>A
|
p.Leu111Gln
|
4.0 |
|
B | ||
| 6122 | chr17 | 7676040 | C | A |
c.329G>T
|
p.Arg110Leu
|
3.5 |
|
B | ||
| 18729 | chr17 | 7676040 | C | CGG |
c.327_328dup
|
p.Arg110ProfsTer14
|
4.0 |
|
B | ||
| 1384 | chr17 | 7676040 | C | G |
c.329G>C
|
p.Arg110Pro
|
4.0 |
|
B | ||
| 12096 | chr17 | 7676040 | C | T |
c.329G>A
|
p.Arg110His
|
2.0 |
|
B | ||
| 12576 | chr17 | 7676043 | A | G |
c.326T>C
|
p.Phe109Ser
|
3.5 |
|
B | ||
| 9247 | chr17 | 7676044 | AACCGTAGCTGCCCTGGTAGGTTTTC | A |
c.300_324del
|
p.Gln100HisfsTer15
|
- | 3.5 |
|
B | |
| 8507 | chr17 | 7676048 | G | C |
c.321C>G
|
p.Tyr107Ter
|
- | 4.5 |
|
B | |
| 6331 | chr17 | 7676048 | G | T |
c.321C>A
|
p.Tyr107Ter
|
4.5 |
|
B | ||
| 28014 | chr17 | 7676050 | A | C |
c.319T>G
|
p.Tyr107Asp
|
3.5 |
|
B | ||
| 14551 | chr17 | 7676051 | G | C |
c.318C>G
|
p.Ser106Arg
|
3.0 |
|
B | ||
| 889 | chr17 | 7676055 | C | A |
c.314G>T
|
p.Gly105Val
|
3.0 |
|
B | ||
| 18009 | chr17 | 7676055 | C | T |
c.314G>A
|
p.Gly105Asp
|
4.0 |
|
B | ||
| 6867 | chr17 | 7676056 | CCTGGTAGGTTTTCTGGGAAGGGACA | C |
c.288_312del
|
p.Val97AlafsTer18
|
- | 4.0 |
|
B | |
| 1068 | chr17 | 7676059 | G | A |
c.310C>T
|
p.Gln104Ter
|
5.0 |
|
B | ||
| 1262 | chr17 | 7676070 | TG | T |
c.298del
|
p.Gln100ArgfsTer23
|
3.5 |
|
B | ||
| 23254 | chr17 | 7676071 | G | A |
c.298C>T
|
p.Gln100Ter
|
4.5 |
|
B | ||
| 4186 | chr17 | 7676076 | G | A |
c.293C>T
|
p.Pro98Leu
|
3.0 |
|
B | ||
| 1986 | chr17 | 7676088 | G | T |
c.281C>A
|
p.Ser94Ter
|
- | 4.0 |
|
B | |
| 18748 | chr17 | 7676089 | ACAGGGGCCAGGAGGGGGCTGGTG | A |
c.257_279del
|
p.Ala86ValfsTer55
|
4.5 |
|
B |