Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27645 | chr7 | 78019913 | G | A |
c.3770C>T
|
p.Ser1257Phe
|
- | 3.0 |
|
B | |
| 33084 | chr7 | 78078866 | G | T |
c.3706+81C>A
|
-
|
- | 3.0 |
|
B | |
| 2686 | chr7 | 78078943 | G | A |
c.3706+4C>T
|
-
|
2.5 |
|
B | ||
| 30433 | chr7 | 78078964 | C | A |
c.3689G>T
|
p.Gly1230Val
|
- | 3.0 |
|
B | |
| 28073 | chr7 | 78125676 | A | C |
c.3567+18T>G
|
-
|
- | 3.0 |
|
B | |
| 18303 | chr7 | 78125765 | C | T |
c.3496G>A
|
p.Glu1166Lys
|
3.0 |
|
B | ||
| 6777 | chr7 | 78125823 | G | T |
c.3438C>A
|
p.Phe1146Leu
|
- | 3.0 |
|
B | |
| 10020 | chr7 | 78125837 | C | A |
c.3424G>T
|
p.Asp1142Tyr
|
- | 3.0 |
|
B | |
| 32459 | chr7 | 78125837 | C | T |
c.3424G>A
|
p.Asp1142Asn
|
3.0 |
|
B | ||
| 10298 | chr7 | 78125838 | C | T |
c.3424-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 10725 | chr7 | 78127187 | G | A |
c.3423+10C>T
|
-
|
- | 3.0 |
|
B | |
| 3178 | chr7 | 78127369 | C | T |
c.3251G>A
|
p.Arg1084Gln
|
3.0 |
|
B | ||
| 25628 | chr7 | 78127434 | G | A |
c.3204-18C>T
|
-
|
2.0 |
|
B | ||
| 22331 | chr7 | 78132896 | C | T |
c.3196G>A
|
p.Glu1066Lys
|
3.0 |
|
B | ||
| 30280 | chr7 | 78132953 | G | A |
c.3139C>T
|
p.Pro1047Ser
|
3.0 |
|
B | ||
| 33552 | chr7 | 78132983 | T | A |
c.3109A>T
|
p.Ser1037Cys
|
- | 3.0 |
|
B | |
| 6218 | chr7 | 78133026 | C | G |
c.3066G>C
|
p.Glu1022Asp
|
- | 3.0 |
|
B | |
| 4280 | chr7 | 78133036 | G | A |
c.3056C>T
|
p.Pro1019Leu
|
- | 3.0 |
|
B | |
| 4281 | chr7 | 78133037 | G | A |
c.3055C>T
|
p.Pro1019Ser
|
- | 3.0 |
|
B | |
| 799 | chr7 | 78160025 | T | G |
c.2845A>C
|
p.Thr949Pro
|
- | 3.0 |
|
B |