Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29848 | chr7 | 55200351 | C | T |
c.2884C>T
|
p.Arg962Cys
|
3.0 |
|
B | ||
| 10838 | chr7 | 55200352 | G | A |
c.2885G>A
|
p.Arg962His
|
2.5 |
|
B | ||
| 7270 | chr7 | 55200360 | A | G |
c.2893A>G
|
p.Ile965Val
|
- | 3.0 |
|
B | |
| 34020 | chr7 | 55200387 | G | T |
c.2920G>T
|
p.Asp974Tyr
|
- | 3.0 |
|
B | |
| 20808 | chr7 | 55200391 | C | T |
c.2924C>T
|
p.Pro975Leu
|
3.0 |
|
B | ||
| 23957 | chr7 | 55201208 | G | T |
c.2967G>T
|
p.Leu989Phe
|
- | 3.0 |
|
B | |
| 10395 | chr7 | 55201221 | G | T |
c.2980G>T
|
p.Asp994Tyr
|
- | 3.0 |
|
B | |
| 12487 | chr7 | 55201368 | T | G |
c.3114+13T>G
|
-
|
- | 3.0 |
|
B | |
| 26425 | chr7 | 55201726 | C | T |
c.3115-9C>T
|
-
|
2.5 |
|
B | ||
| 7240 | chr7 | 55201759 | G | A |
c.3139G>A
|
p.Val1047Met
|
2.5 |
|
B | ||
| 6690 | chr7 | 55201759 | GT | G |
c.3140del
|
p.Val1047GlyfsTer31
|
- | 3.0 |
|
B | |
| 23284 | chr7 | 55201771 | G | C |
c.3151G>C
|
p.Asp1051His
|
- | 3.0 |
|
B | |
| 20998 | chr7 | 55202499 | C | T |
c.3163-18C>T
|
-
|
2.0 |
|
B | ||
| 14850 | chr7 | 55202507 | C | T |
c.3163-10C>T
|
-
|
- | 3.0 |
|
B | |
| 10792 | chr7 | 55205271 | C | T |
c.3287C>T
|
p.Ser1096Phe
|
- | 3.0 |
|
B | |
| 18844 | chr7 | 55205357 | T | A |
c.3373T>A
|
p.Tyr1125Asn
|
- | 3.0 |
|
B | |
| 21070 | chr7 | 55205362 | G | T |
c.3378G>T
|
p.Gln1126His
|
- | 3.0 |
|
B | |
| 32024 | chr7 | 55205453 | T | G |
c.3469T>G
|
p.Trp1157Gly
|
- | 3.0 |
|
B | |
| 24248 | chr7 | 55205457 | C | T |
c.3473C>T
|
p.Ala1158Val
|
3.0 |
|
B | ||
| 5145 | chr7 | 56102864 | TACCGTTTGCAAGTCGGCACTGTTTCAGCACCTCATTGAAACCC | T |
c.405_445+2del
|
p.?
|
- | 3.0 |
|
B |