Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19488 | chr7 | 99676105 | A | G |
c.165+10T>C
|
-
|
3.0 |
|
B | ||
| 18115 | chr7 | 99676204 | C | T |
c.76G>A
|
p.Gly26Arg
|
- | 3.0 |
|
B | |
| 25967 | chr7 | 99676222 | CAG | C |
c.72-16_72-15del
|
-
|
3.0 |
|
B | ||
| 13542 | chr7 | 99676584 | G | C |
c.72-376C>G
|
-
|
- | 3.0 |
|
B | |
| 20341 | chr7 | 99676595 | AT | A |
c.72-388del
|
-
|
3.0 |
|
B | ||
| 23893 | chr7 | 99679898 | G | A |
c.-2C>T
|
-
|
3.0 |
|
B | ||
| 3658 | chr7 | 100158283 | C | T |
c.217G>A
-
-
|
p.Ala73Thr
-
-
|
- | 3.0 |
|
B | |
| 13587 | chr7 | 100721990 | A | G |
c.188A>G
|
p.Asn63Ser
|
3.0 |
|
B | ||
| 4836 | chr7 | 100856990 | C | T |
c.571C>T
|
p.Arg191Trp
|
3.0 |
|
B | ||
| 3659 | chr7 | 101172384 | C | G |
c.805G>C
|
p.Asp269His
|
3.0 |
|
B | ||
| 5181 | chr7 | 101212897 | G | A |
c.824C>T
|
p.Pro275Leu
|
3.0 |
|
B | ||
| 320 | chr7 | 101816066 | G | A |
-
|
-
|
- | 4.33 |
|
A | |
| 24646 | chr7 | 101817640 | ATGT | A |
c.5_7del
|
p.Leu2del
|
3.5 |
|
B | ||
| 25820 | chr7 | 101916145 | G | T |
c.61G>T
|
p.Ala21Ser
|
- | 3.0 |
|
B | |
| 5848 | chr7 | 101916207 | C | G |
c.123C>G
|
p.Phe41Leu
|
- | 3.0 |
|
B | |
| 15742 | chr7 | 101916243 | C | T |
c.141+18C>T
|
-
|
3.0 |
|
B | ||
| 30806 | chr7 | 102070378 | G | A |
c.229G>A
|
p.Ala77Thr
|
- | 3.0 |
|
B | |
| 28550 | chr7 | 102104414 | T | G |
c.485T>G
|
p.Leu162Arg
|
- | 3.0 |
|
B | |
| 21391 | chr7 | 102111694 | G | C |
c.531-4G>C
|
-
|
- | 3.0 |
|
B | |
| 6577 | chr7 | 102111704 | GCAGGAGACACAGATGTCCACCACCT | G |
c.540_564del
|
p.Glu181SerfsTer26
|
- | 4.0 |
|
B |