Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28905 | chr7 | 128857193 | C | T |
c.7637C>T
|
p.Ser2546Phe
|
- | 3.0 |
|
B | |
| 15813 | chr7 | 128858226 | C | T |
c.7990+9C>T
-
|
-
-
|
2.0 |
|
B | ||
| 18118 | chr7 | 129189198 | GGCT | G |
c.67_69del
|
p.Leu23del
|
3.0 |
|
B | ||
| 700 | chr7 | 129189486 | A | C |
c.331+4A>C
|
-
|
- | 3.0 |
|
B | |
| 21393 | chr7 | 129203569 | C | T |
c.517C>T
|
p.Arg173Cys
|
3.0 |
|
B | ||
| 31582 | chr7 | 129203594 | G | A |
c.537+5G>A
|
-
|
3.0 |
|
B | ||
| 23487 | chr7 | 129205193 | C | T |
c.538-10C>T
|
-
|
- | 3.0 |
|
B | |
| 1688 | chr7 | 129205782 | C | T |
c.920C>T
|
p.Thr307Ile
|
3.0 |
|
B | ||
| 4141 | chr7 | 129206156 | T | G |
c.927T>G
|
p.Asn309Lys
|
- | 3.0 |
|
B | |
| 29157 | chr7 | 129206358 | G | C |
c.1129G>C
|
p.Ala377Pro
|
- | 3.0 |
|
B | |
| 14523 | chr7 | 129206389 | C | T |
c.1140+20C>T
|
-
|
3.0 |
|
B | ||
| 21437 | chr7 | 129206557 | C | T |
c.1234C>T
|
p.Leu412Phe
|
5.0 |
|
B | ||
| 34276 | chr7 | 129208848 | C | G |
c.1354C>G
|
p.Leu452Val
|
- | 3.0 |
|
B | |
| 24934 | chr7 | 129208850 | G | T |
c.1356G>T
|
p.Leu452=
|
- | 3.0 |
|
B | |
| 11955 | chr7 | 129209360 | C | G |
c.1429C>G
|
p.Gln477Glu
|
- | 3.0 |
|
B | |
| 15863 | chr7 | 129209385 | G | A |
c.1454G>A
|
p.Arg485Gln
|
3.0 |
|
B | ||
| 25056 | chr7 | 129210403 | C | T |
c.1507C>T
|
p.Pro503Ser
|
- | 3.0 |
|
B | |
| 24201 | chr7 | 129210417 | T | G |
c.1521T>G
|
p.Cys507Trp
|
- | 3.0 |
|
B | |
| 27776 | chr7 | 129210556 | T | G |
c.1652+8T>G
|
-
|
- | 3.0 |
|
B | |
| 4230 | chr7 | 129211663 | C | T |
c.1829C>T
|
p.Pro610Leu
|
- | 3.0 |
|
B |