Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8908 | chr17 | 42323143 | C | T |
c.1749G>A
|
p.Gly583=
|
- | 3.0 |
|
B | |
| 8656 | chr17 | 42323312 | C | T |
c.1696G>A
|
p.Asp566Asn
|
- | 3.0 |
|
B | |
| 27189 | chr17 | 42323627 | T | G |
c.1601-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 11653 | chr17 | 42325066 | G | A |
c.1366-5C>T
|
-
|
2.5 |
|
B | ||
| 8138 | chr17 | 42326118 | C | T |
c.1363G>A
|
p.Glu455Lys
|
- | 3.0 |
|
B | |
| 27190 | chr17 | 42326126 | A | G |
c.1355T>C
|
p.Ile452Thr
|
3.0 |
|
B | ||
| 1287 | chr17 | 42329429 | C | T |
c.1262G>A
|
p.Gly421Glu
|
3.5 |
|
B | ||
| 9445 | chr17 | 42329540 | C | T |
c.1233+14G>A
|
-
|
- | 2.5 |
|
B | |
| 14267 | chr17 | 42329773 | GTC | G |
c.1111_1112del
|
p.Asp371LeufsTer14
|
3.0 |
|
B | ||
| 25081 | chr17 | 42329782 | A | G |
c.1110-6T>C
|
-
|
2.0 |
|
B | ||
| 24402 | chr17 | 42329810 | G | C |
c.1110-34C>G
|
-
|
- | 3.0 |
|
B | |
| 2678 | chr17 | 42331467 | C | A |
c.1109+5G>T
|
-
|
- | 3.0 |
|
B | |
| 8017 | chr17 | 42331497 | G | C |
c.1084C>G
|
p.Leu362Val
|
- | 3.0 |
|
B | |
| 16981 | chr17 | 42333698 | C | T |
c.1024G>A
|
p.Gly342Ser
|
3.0 |
|
B | ||
| 6314 | chr17 | 42333719 | G | A |
c.1003C>T
|
p.Arg335Trp
|
3.5 |
|
B | ||
| 15687 | chr17 | 42333943 | G | A |
c.904C>T
|
p.Arg302Trp
|
3.0 |
|
B | ||
| 11158 | chr17 | 42337493 | G | A |
c.739C>T
|
p.Gln247Ter
|
3.0 |
|
B | ||
| 1219 | chr17 | 42338754 | TAGTTGAAATCAA | T |
c.515_526del
|
p.Phe172_Asn175del
|
- | 3.0 |
|
B | |
| 16832 | chr17 | 42338795 | C | T |
c.486G>A
|
p.Met162Ile
|
- | 3.0 |
|
B | |
| 35692 | chr17 | 42339360 | T | A |
c.422A>T
|
p.Gln141Leu
|
- | 3.0 |
|
B |