Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23809 | chr17 | 43079335 | T | C |
c.4358-2721A>G
|
-
|
- | 3.0 |
|
B | |
| 9787 | chr17 | 43082403 | C | T |
c.4357+1G>A
|
p.?
|
4.0 |
|
B | ||
| 9788 | chr17 | 43082404 | C | T |
c.4357G>A
|
p.Ala1453Thr
|
- | 3.5 |
|
B | |
| 6059 | chr17 | 43082427 | G | A |
c.4334C>T
|
p.Pro1445Leu
|
- | 3.0 |
|
B | |
| 12441 | chr17 | 43090965 | C | G |
c.4164G>C
|
p.Gln1388His
|
- | 3.0 |
|
B | |
| 32524 | chr17 | 43091548 | G | A |
c.3983C>T
|
p.Ser1328Phe
|
- | 3.0 |
|
B | |
| 27887 | chr17 | 43091818 | G | A |
c.3713C>T
|
p.Pro1238Leu
|
2.0 |
|
B | ||
| 27004 | chr17 | 43091882 | AT | A |
c.3648del
|
p.Leu1216PhefsTer19
|
- | 4.0 |
|
B | |
| 2261 | chr17 | 43091905 | A | T |
c.3626T>A
|
p.Leu1209Ter
|
- | 4.0 |
|
B | |
| 472 | chr17 | 43091924 | G | A |
c.3607C>T
|
p.Arg1203Ter
|
4.67 |
|
A | ||
| 21734 | chr17 | 43091962 | G | A |
c.3569C>T
|
p.Pro1190Leu
|
2.5 |
|
B | ||
| 29925 | chr17 | 43092089 | C | G |
c.3442G>C
|
p.Glu1148Gln
|
- | 3.0 |
|
B | |
| 17811 | chr17 | 43092179 | G | A |
c.3352C>T
|
p.Gln1118Ter
|
4.5 |
|
B | ||
| 27835 | chr17 | 43092264 | C | A |
c.3267G>T
|
p.Leu1089Phe
|
2.5 |
|
B | ||
| 27054 | chr17 | 43092335 | C | A |
c.3196G>T
|
p.Glu1066Ter
|
4.0 |
|
B | ||
| 2529 | chr17 | 43092565 | A | G |
c.2966T>C
|
p.Phe989Ser
|
3.0 |
|
B | ||
| 16220 | chr17 | 43092791 | C | A |
c.2740G>T
|
p.Glu914Ter
|
4.0 |
|
B | ||
| 1973 | chr17 | 43093398 | CTT | C |
c.2131_2132del
|
p.Lys711ValfsTer6
|
4.5 |
|
B | ||
| 8575 | chr17 | 43093631 | G | A |
c.1900C>T
|
p.Pro634Ser
|
2.5 |
|
B | ||
| 7407 | chr17 | 43093691 | T | G |
c.1840A>C
|
p.Lys614Gln
|
3.0 |
|
B |