Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22943 | chr17 | 42339373 | C | T |
c.409G>A
|
p.Val137Met
|
- | 3.0 |
|
B | |
| 34646 | chr17 | 42346556 | TTTCTCATCATACCTGAAGAAACTGCTTGA | T |
c.257_273+12del
|
p.?
|
- | 3.0 |
|
B | |
| 33408 | chr17 | 42346559 | C | T |
c.273+10G>A
|
-
|
- | 3.0 |
|
B | |
| 21335 | chr17 | 42346690 | G | A |
c.152C>T
|
p.Ser51Leu
|
- | 3.0 |
|
B | |
| 21420 | chr17 | 42348482 | G | A |
c.35C>T
|
p.Thr12Ile
|
- | 3.0 |
|
B | |
| 9207 | chr17 | 42348501 | G | A |
c.16C>T
|
p.Gln6Ter
|
- | 3.0 |
|
B | |
| 6931 | chr17 | 42682839 | C | T |
c.10C>T
-
|
p.Leu4Phe
-
|
3.0 |
|
B | ||
| 23091 | chr17 | 42685317 | G | C |
c.612G>C
-
|
p.Lys204Asn
-
|
- | 3.0 |
|
B | |
| 33827 | chr17 | 42685318 | A | C |
c.613A>C
-
|
p.Thr205Pro
-
|
- | 3.0 |
|
B | |
| 3504 | chr17 | 42686927 | G | A |
c.925G>A
|
p.Ala309Thr
|
- | 3.0 |
|
B | |
| 17385 | chr17 | 42686975 | G | T |
c.973G>T
|
p.Glu325Ter
|
- | 3.0 |
|
B | |
| 2372 | chr17 | 42687736 | G | A |
c.1061G>A
|
p.Arg354His
|
3.0 |
|
B | ||
| 473 | chr17 | 42687837 | C | T |
c.1162C>T
|
p.Arg388Cys
|
3.0 |
|
B | ||
| 1612 | chr17 | 42688490 | C | G |
c.1335C>G
|
p.His445Gln
|
- | 3.0 |
|
B | |
| 26477 | chr17 | 42688983 | G | T |
c.1564G>T
|
p.Val522Leu
|
- | 3.0 |
|
B | |
| 11720 | chr17 | 42689504 | C | T |
c.1629-17C>T
|
-
|
3.0 |
|
B | ||
| 21346 | chr17 | 42690163 | G | C |
c.1811G>C
|
p.Gly604Ala
|
- | 3.0 |
|
B | |
| 13110 | chr17 | 42690219 | T | G |
c.1855+12T>G
|
-
|
- | 3.0 |
|
B | |
| 27339 | chr17 | 42690744 | C | T |
c.1861C>T
|
p.Arg621Ter
|
3.0 |
|
B | ||
| 11645 | chr17 | 42690771 | AGGCTGTGGACAACTCGAGT | A |
c.1890_1908del
|
p.Leu631GlnfsTer110
|
- | 3.0 |
|
B |