Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30606 | chr7 | 137908301 | G | A |
c.719C>T
|
p.Pro240Leu
|
- | 3.0 |
|
B | |
| 27595 | chr7 | 137908428 | C | T |
c.592G>A
|
p.Asp198Asn
|
- | 3.0 |
|
B | |
| 19313 | chr7 | 137913019 | A | T |
c.555T>A
|
p.Asp185Glu
|
- | 3.0 |
|
B | |
| 33013 | chr7 | 137915955 | T | G |
c.377A>C
|
p.Lys126Thr
|
- | 3.0 |
|
B | |
| 30693 | chr7 | 137915967 | G | A |
c.365C>T
|
p.Ser122Leu
|
- | 3.0 |
|
B | |
| 16639 | chr7 | 137928188 | G | A |
c.281C>T
|
p.Pro94Leu
|
- | 3.0 |
|
B | |
| 17162 | chr7 | 137928248 | G | A |
c.221C>T
|
p.Ala74Val
|
3.0 |
|
B | ||
| 18397 | chr7 | 137928263 | G | A |
c.206C>T
|
p.Ser69Phe
|
3.0 |
|
B | ||
| 18720 | chr7 | 137928267 | G | A |
c.202C>T
|
p.Pro68Ser
|
- | 3.0 |
|
B | |
| 24695 | chr7 | 138460742 | G | C |
c.194G>C
|
p.Ser65Thr
|
- | 3.0 |
|
B | |
| 32987 | chr7 | 138460778 | T | G |
c.230T>G
|
p.Phe77Cys
|
- | 3.0 |
|
B | |
| 22672 | chr7 | 138460848 | G | A |
c.300G>A
|
p.Glu100=
|
- | 3.0 |
|
B | |
| 18471 | chr7 | 138519324 | AC | A |
c.764+5del
|
-
|
- | 3.0 |
|
B | |
| 22160 | chr7 | 138525287 | G | C |
c.811G>C
|
p.Asp271His
|
- | 3.0 |
|
B | |
| 32431 | chr7 | 138538796 | A | C |
c.1136A>C
|
p.Lys379Thr
|
- | 3.0 |
|
B | |
| 34083 | chr7 | 138554723 | G | C |
c.1287G>C
|
p.Glu429Asp
|
- | 3.0 |
|
B | |
| 17302 | chr7 | 138579375 | AAGTCACCTCTTCATG | A |
c.2429_2443del
|
p.Lys810_Val815delinsIle
|
- | 3.0 |
|
B | |
| 17444 | chr7 | 138579391 | T | G |
c.2444T>G
|
p.Val815Gly
|
- | 3.0 |
|
B | |
| 12276 | chr7 | 138579528 | C | T |
c.2581C>T
|
p.Pro861Ser
|
- | 3.0 |
|
B | |
| 22332 | chr7 | 138580590 | G | A |
c.2614G>A
|
p.Asp872Asn
|
- | 3.0 |
|
B |