Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22517 | chr7 | 41964640 | T | A |
c.4433A>T
|
p.Glu1478Val
|
- | 3.0 |
|
B | |
| 2028 | chr7 | 41964727 | C | A |
c.4346G>T
|
p.Gly1449Val
|
- | 3.0 |
|
B | |
| 2673 | chr7 | 41964882 | C | G |
c.4191G>C
|
p.Met1397Ile
|
- | 3.0 |
|
B | |
| 1177 | chr7 | 41964991 | T | C |
c.4082A>G
|
p.Glu1361Gly
|
- | 3.0 |
|
B | |
| 11989 | chr7 | 41965174 | G | A |
c.3899C>T
|
p.Ala1300Val
|
2.5 |
|
B | ||
| 16914 | chr7 | 41965187 | C | T |
c.3886G>A
|
p.Gly1296Ser
|
- | 3.0 |
|
B | |
| 34770 | chr7 | 41965367 | C | T |
c.3706G>A
|
p.Gly1236Arg
|
3.0 |
|
B | ||
| 5579 | chr7 | 41965424 | C | T |
c.3649G>A
|
p.Gly1217Arg
|
3.0 |
|
B | ||
| 26926 | chr7 | 41965433 | G | A |
c.3640C>T
|
p.Gln1214Ter
|
- | 3.0 |
|
B | |
| 8601 | chr7 | 41965433 | G | C |
c.3640C>G
|
p.Gln1214Glu
|
3.0 |
|
B | ||
| 6409 | chr7 | 41965442 | C | A |
c.3631G>T
|
p.Gly1211Trp
|
3.0 |
|
B | ||
| 5531 | chr7 | 41965498 | C | G |
c.3575G>C
|
p.Gly1192Ala
|
- | 3.0 |
|
B | |
| 21700 | chr7 | 41965507 | C | T |
c.3566G>A
|
p.Arg1189His
|
- | 3.0 |
|
B | |
| 13399 | chr7 | 41965681 | G | A |
c.3392C>T
|
p.Ala1131Val
|
3.0 |
|
B | ||
| 29290 | chr7 | 41965694 | C | T |
c.3379G>A
|
p.Gly1127Ser
|
3.0 |
|
B | ||
| 6657 | chr7 | 41965700 | C | T |
c.3373G>A
|
p.Gly1125Arg
|
3.0 |
|
B | ||
| 18957 | chr7 | 41965831 | T | C |
c.3242A>G
|
p.Asp1081Gly
|
- | 3.0 |
|
B | |
| 7946 | chr7 | 41965856 | C | T |
c.3217G>A
|
p.Val1073Ile
|
- | 3.0 |
|
B | |
| 24058 | chr7 | 41965915 | T | G |
c.3158A>C
|
p.Glu1053Ala
|
- | 3.0 |
|
B | |
| 12908 | chr7 | 41965958 | C | T |
c.3115G>A
|
p.Ala1039Thr
|
2.5 |
|
B |