Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14301 | chr7 | 26197883 | AACTT | A |
c.7-155_7-152del
-
|
-
-
|
- | 3.0 |
|
B | |
| 3308 | chr7 | 26725545 | G | A |
c.679C>T
|
p.Pro227Ser
|
- | 3.0 |
|
B | |
| 3309 | chr7 | 27102254 | T | A |
-
c.247A>T
|
-
p.Ser83Cys
|
- | 3.0 |
|
B | |
| 34971 | chr7 | 27163830 | C | A |
c.592G>T
|
p.Ala198Ser
|
- | 3.0 |
|
B | |
| 19481 | chr7 | 27164877 | C | G |
c.580+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 20011 | chr7 | 27165151 | G | C |
c.307C>G
|
p.Pro103Ala
|
3.0 |
|
B | ||
| 35044 | chr7 | 27165313 | G | T |
c.145C>A
|
p.Pro49Thr
|
3.0 |
|
B | ||
| 21272 | chr7 | 27165351 | C | A |
c.107G>T
|
p.Gly36Val
|
- | 3.0 |
|
B | |
| 13914 | chr7 | 27832835 | C | T |
-
c.697G>A
|
-
p.Val233Met
|
- | 3.0 |
|
B | |
| 33695 | chr7 | 27832969 | T | A |
-
c.563A>T
|
-
p.Asn188Ile
|
- | 3.0 |
|
B | |
| 23224 | chr7 | 27895360 | G | A |
c.245C>T
|
p.Pro82Leu
|
3.0 |
|
B | ||
| 14722 | chr7 | 27895385 | C | T |
c.220G>A
|
p.Glu74Lys
|
- | 3.0 |
|
B | |
| 29701 | chr7 | 27895391 | C | A |
c.214G>T
|
p.Glu72Ter
|
- | 3.0 |
|
B | |
| 24775 | chr7 | 27895432 | A | C |
c.189-16T>G
|
-
|
- | 3.0 |
|
B | |
| 13633 | chr7 | 27895435 | G | A |
c.189-19C>T
|
-
|
- | 3.0 |
|
B | |
| 15665 | chr7 | 32974730 | C | T |
c.335C>T
|
p.Pro112Leu
|
- | 3.0 |
|
B | |
| 23356 | chr7 | 32974751 | A | G |
c.356A>G
|
p.Asn119Ser
|
3.0 |
|
B | ||
| 25405 | chr7 | 32975296 | G | A |
c.482G>A
|
p.Arg161Gln
|
3.0 |
|
B | ||
| 33741 | chr7 | 32976375 | T | G |
c.579T>G
|
p.Tyr193Ter
|
3.0 |
|
B | ||
| 34113 | chr7 | 32976467 | C | G |
c.671C>G
|
p.Pro224Arg
|
- | 3.0 |
|
B |