Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15048 | chr7 | 102201731 | A | G |
c.2434A>G
|
p.Asn812Asp
|
- | 3.0 |
|
B | |
| 10152 | chr7 | 102201734 | G | T |
c.2437G>T
|
p.Glu813Ter
|
- | 4.0 |
|
B | |
| 2105 | chr7 | 102201749 | G | A |
c.2452G>A
|
p.Gly818Ser
|
3.0 |
|
B | ||
| 11101 | chr7 | 102201826 | C | T |
c.2529C>T
|
p.Ala843=
|
3.0 |
|
B | ||
| 33369 | chr7 | 102201840 | G | A |
c.2543G>A
|
p.Gly848Asp
|
- | 3.0 |
|
B | |
| 30738 | chr7 | 102201843 | G | A |
c.2546G>A
|
p.Gly849Glu
|
- | 3.0 |
|
B | |
| 1734 | chr7 | 102201848 | G | C |
c.2551G>C
|
p.Glu851Gln
|
- | 3.0 |
|
B | |
| 9817 | chr7 | 102201934 | G | A |
c.2637G>A
|
p.Trp879Ter
|
4.0 |
|
B | ||
| 1735 | chr7 | 102202188 | G | T |
c.2891G>T
|
p.Arg964Ile
|
- | 3.0 |
|
B | |
| 30484 | chr7 | 102227405 | C | T |
c.3169C>T
|
p.Pro1057Ser
|
- | 3.0 |
|
B | |
| 29634 | chr7 | 102227475 | C | T |
c.3239C>T
|
p.Pro1080Leu
|
- | 3.0 |
|
B | |
| 24785 | chr7 | 102227684 | C | T |
c.3433+15C>T
|
-
|
3.0 |
|
B | ||
| 25821 | chr7 | 102234063 | T | C |
c.3445T>C
|
p.Phe1149Leu
|
- | 3.0 |
|
B | |
| 22744 | chr7 | 102234069 | G | T |
c.3451G>T
|
p.Glu1151Ter
|
- | 4.0 |
|
B | |
| 21067 | chr7 | 102234103 | C | G |
c.3485C>G
|
p.Ser1162Cys
|
- | 3.0 |
|
B | |
| 33342 | chr7 | 102234130 | G | A |
c.3512G>A
|
p.Trp1171Ter
|
- | 3.5 |
|
B | |
| 31905 | chr7 | 102234231 | G | T |
c.3613G>T
|
p.Glu1205Ter
|
- | 4.0 |
|
B | |
| 942 | chr7 | 102239403 | G | A |
c.3706G>A
|
p.Ala1236Thr
|
3.0 |
|
B | ||
| 26629 | chr7 | 102239601 | A | C |
c.3887+17A>C
|
-
|
- | 3.0 |
|
B | |
| 8705 | chr7 | 102248545 | G | A |
c.4021G>A
|
p.Val1341Met
|
- | 3.0 |
|
B |