Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11110 | chr17 | 43093738 | A | C |
c.1793T>G
|
p.Leu598Ter
|
4.5 |
|
B | ||
| 23966 | chr17 | 43093765 | CTGCTTATAG | C |
c.1757_1765del
|
p.Pro586_Ser589delinsArg
|
- | 3.0 |
|
B | |
| 9789 | chr17 | 43094162 | C | T |
c.1369G>A
|
p.Glu457Lys
|
- | 3.0 |
|
B | |
| 35362 | chr17 | 43094213 | A | C |
c.1318T>G
|
p.Leu440Val
|
- | 3.0 |
|
B | |
| 20974 | chr17 | 43094494 | G | A |
c.1037C>T
|
p.Pro346Leu
|
- | 3.0 |
|
B | |
| 9878 | chr17 | 43094508 | A | T |
c.1023T>A
|
p.Asp341Glu
|
- | 3.0 |
|
B | |
| 15966 | chr17 | 43094695 | T | G |
c.836A>C
|
p.His279Pro
|
- | 3.0 |
|
B | |
| 34926 | chr17 | 43094699 | T | C |
c.832A>G
|
p.Thr278Ala
|
- | 3.0 |
|
B | |
| 18174 | chr17 | 43094813 | G | T |
c.718C>A
|
p.Gln240Lys
|
- | 3.0 |
|
B | |
| 22388 | chr17 | 43094847 | A | T |
c.684T>A
|
p.Phe228Leu
|
- | 3.0 |
|
B | |
| 10834 | chr17 | 43095912 | G | C |
c.604C>G
|
p.Gln202Glu
|
- | 3.0 |
|
B | |
| 8941 | chr17 | 43095921 | C | A |
c.595G>T
|
p.Val199Leu
|
- | 3.0 |
|
B | |
| 13098 | chr17 | 43095928 | G | A |
c.594-6C>T
|
-
|
2.5 |
|
B | ||
| 16132 | chr17 | 43095928 | G | C |
c.594-6C>G
|
-
|
- | 3.0 |
|
B | |
| 32608 | chr17 | 43097280 | G | A |
c.557C>T
|
p.Ser186Phe
|
3.0 |
|
B | ||
| 18961 | chr17 | 43097306 | C | A |
c.548-17G>T
|
-
|
2.0 |
|
B | ||
| 14977 | chr17 | 43099789 | A | G |
c.533T>C
|
p.Val178Ala
|
- | 3.0 |
|
B | |
| 7574 | chr17 | 43099811 | T | A |
c.511A>T
|
p.Ile171Leu
|
- | 3.0 |
|
B | |
| 23766 | chr17 | 43104130 | G | A |
c.433C>T
|
p.Pro145Ser
|
- | 3.0 |
|
B | |
| 23277 | chr17 | 43104195 | G | A |
c.368C>T
|
p.Ser123Phe
|
3.0 |
|
B |