Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1763 | chr7 | 5982840 | C | G |
c.2158G>C
|
p.Gly720Arg
|
- | 3.0 |
|
B | |
| 14851 | chr7 | 5982870 | C | T |
c.2128G>A
|
p.Glu710Lys
|
3.0 |
|
B | ||
| 35243 | chr7 | 5986740 | T | A |
c.2006+19A>T
|
-
|
- | 3.0 |
|
B | |
| 35319 | chr7 | 5986905 | A | C |
c.1860T>G
|
p.Phe620Leu
|
- | 3.0 |
|
B | |
| 8579 | chr7 | 5986916 | G | A |
c.1849C>T
|
p.Pro617Ser
|
2.5 |
|
B | ||
| 30000 | chr7 | 5986970 | C | T |
c.1795G>A
|
p.Asp599Asn
|
2.5 |
|
B | ||
| 23697 | chr7 | 5987123 | C | T |
c.1642G>A
|
p.Asp548Asn
|
3.0 |
|
B | ||
| 30483 | chr7 | 5987125 | G | A |
c.1640C>T
|
p.Ser547Leu
|
- | 3.0 |
|
B | |
| 2543 | chr7 | 5987233 | G | A |
c.1532C>T
|
p.Thr511Met
|
1.0 |
|
B | ||
| 30002 | chr7 | 5987386 | C | T |
c.1379G>A
|
p.Gly460Asp
|
2.5 |
|
B | ||
| 9664 | chr7 | 5987432 | T | G |
c.1333A>C
|
p.Ser445Arg
|
- | 3.0 |
|
B | |
| 4172 | chr7 | 5987451 | CTT | C |
c.1312_1313del
|
p.Lys438AspfsTer19
|
- | 4.0 |
|
B | |
| 13398 | chr7 | 5987467 | T | G |
c.1298A>C
|
p.Lys433Thr
|
2.5 |
|
B | ||
| 304 | chr7 | 5987504 | G | A |
c.1261C>T
|
p.Arg421Ter
|
5.0 |
|
A | ||
| 26104 | chr7 | 5987518 | G | GA |
c.1246dup
|
p.Ser416PhefsTer42
|
- | 4.0 |
|
B | |
| 12072 | chr7 | 5987534 | C | G |
c.1231G>C
|
p.Glu411Gln
|
- | 3.0 |
|
B | |
| 31214 | chr7 | 5991965 | G | A |
c.988+8C>T
|
-
|
- | 2.0 |
|
B | |
| 305 | chr7 | 5992018 | G | A |
c.943C>T
|
p.Arg315Ter
|
5.0 |
|
A | ||
| 30004 | chr7 | 5995534 | C | T |
c.903G>A
|
p.Lys301=
|
3.5 |
|
B | ||
| 17784 | chr7 | 5997347 | T | A |
c.782A>T
|
p.Asp261Val
|
- | 3.0 |
|
B |