Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19506 | chr7 | 152222074 | GA | G |
c.3434-9del
|
-
|
2.0 |
|
B | ||
| 12912 | chr7 | 152224007 | C | A |
c.3323+8G>T
|
-
|
- | 3.0 |
|
B | |
| 29352 | chr7 | 152224021 | C | T |
c.3317G>A
|
p.Cys1106Tyr
|
- | 3.0 |
|
B | |
| 1728 | chr7 | 152224543 | G | T |
c.3050C>A
|
p.Thr1017Asn
|
- | 3.0 |
|
B | |
| 15532 | chr7 | 152229931 | T | C |
c.2968A>G
|
p.Ser990Gly
|
2.0 |
|
B | ||
| 35194 | chr7 | 152230042 | A | G |
c.2872-15T>C
|
-
|
1.0 |
|
B | ||
| 15982 | chr7 | 152235905 | C | T |
c.2681G>A
|
p.Arg894Gln
|
3.0 |
|
B | ||
| 13993 | chr7 | 152235948 | G | A |
c.2653-15C>T
|
-
|
1.5 |
|
B | ||
| 30939 | chr7 | 152247896 | C | A |
c.2532+6G>T
|
-
|
2.0 |
|
B | ||
| 21936 | chr7 | 152247903 | T | A |
c.2531A>T
|
p.Gln844Leu
|
- | 3.0 |
|
B | |
| 10260 | chr7 | 152247913 | G | A |
c.2521C>T
|
p.Arg841Trp
|
3.0 |
|
B | ||
| 13473 | chr7 | 152247925 | G | T |
c.2509C>A
|
p.Pro837Thr
|
- | 3.0 |
|
B | |
| 20019 | chr7 | 152247932 | T | A |
c.2502A>T
|
p.Lys834Asn
|
- | 3.0 |
|
B | |
| 31036 | chr7 | 152247966 | A | G |
c.2468T>C
|
p.Ile823Thr
|
3.0 |
|
B | ||
| 34530 | chr7 | 152247966 | A | T |
c.2468T>A
|
p.Ile823Asn
|
3.0 |
|
B | ||
| 30362 | chr7 | 152247969 | T | TC |
c.2464_2465insG
|
p.Lys822ArgfsTer6
|
- | 4.0 |
|
B | |
| 30609 | chr7 | 152248009 | C | T |
c.2425G>A
|
p.Gly809Arg
|
- | 3.0 |
|
B | |
| 7694 | chr7 | 152248122 | G | T |
c.2312C>A
|
p.Ser771Ter
|
- | 4.0 |
|
B | |
| 23124 | chr7 | 152248249 | T | C |
c.2185A>G
|
p.Asn729Asp
|
1.0 |
|
B | ||
| 33852 | chr7 | 152248252 | C | A |
c.2182G>T
|
p.Glu728Ter
|
4.0 |
|
B |