Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7693 | chr7 | 148817399 | A | T |
c.1241-8T>A
|
-
|
- | 3.0 |
|
B | |
| 2945 | chr7 | 148818077 | C | T |
c.1040G>A
|
p.Arg347Gln
|
- | 3.0 |
|
B | |
| 28551 | chr7 | 148826438 | G | C |
c.907+16C>G
|
-
|
- | 3.0 |
|
B | |
| 2549 | chr7 | 148826610 | G | A |
c.751C>T
|
p.Gln251Ter
|
- | 3.5 |
|
B | |
| 62 | chr7 | 148827194 | T | C |
c.698A>G
|
p.Asp233Gly
|
- | 3.0 |
|
B | |
| 8212 | chr7 | 148829795 | T | G |
c.417A>C
|
p.Leu139Phe
|
- | 3.0 |
|
B | |
| 61 | chr7 | 148829805 | T | A |
c.407A>T
|
p.Asp136Val
|
3.0 |
|
B | ||
| 22747 | chr7 | 148832647 | T | C |
c.350A>G
|
p.Gln117Arg
|
- | 3.0 |
|
B | |
| 20348 | chr7 | 148846601 | TAA | T |
c.118-5_118-4del
|
-
|
2.0 |
|
B | ||
| 3403 | chr7 | 149475169 | G | A |
c.1198C>T
|
p.Arg400Trp
|
3.0 |
|
B | ||
| 24647 | chr7 | 150945441 | C | T |
c.3404G>A
|
p.Arg1135His
|
3.0 |
|
B | ||
| 30608 | chr7 | 150947328 | C | T |
c.3152G>A
|
p.Arg1051Lys
|
- | 3.0 |
|
B | |
| 19494 | chr7 | 150947611 | A | AG |
c.2959dup
|
p.Leu987ProfsTer132
|
- | 3.0 |
|
B | |
| 33063 | chr7 | 150947791 | C | T |
c.2780G>A
|
p.Trp927Ter
|
3.0 |
|
B | ||
| 24697 | chr7 | 150948471 | A | AG |
c.2664_2665insC
|
p.Ser890ValfsTer30
|
- | 3.0 |
|
B | |
| 8311 | chr7 | 150948476 | C | A |
c.2660G>T
|
p.Arg887Leu
|
3.0 |
|
B | ||
| 12663 | chr7 | 150951072 | C | A |
c.1994G>T
|
p.Arg665Leu
|
- | 3.0 |
|
B | |
| 16398 | chr7 | 150951123 | G | C |
c.1946-3C>G
|
-
|
- | 3.0 |
|
B | |
| 20035 | chr7 | 150951678 | C | T |
c.1715G>A
|
p.Gly572Asp
|
3.0 |
|
B | ||
| 29890 | chr7 | 150951680 | G | A |
c.1713C>T
|
p.Ile571=
|
2.0 |
|
B |