Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14042 | chr17 | 58363420 | G | C |
c.451-14C>G
|
-
|
- | 3.0 |
|
B | |
| 20691 | chr17 | 58363516 | C | A |
c.450+10G>T
|
-
|
- | 3.0 |
|
B | |
| 5459 | chr17 | 58363525 | C | T |
c.450+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 14477 | chr17 | 58363578 | C | G |
c.398G>C
|
p.Gly133Ala
|
- | 3.0 |
|
B | |
| 24536 | chr17 | 58363580 | T | TCGCTCAC |
c.389_395dup
|
p.Gly133Ter
|
- | 4.0 |
|
B | |
| 976 | chr17 | 58363582 | G | A |
c.394C>T
|
p.Arg132Ter
|
4.5 |
|
B | ||
| 9722 | chr17 | 58363588 | C | T |
c.388G>A
|
p.Gly130Ser
|
- | 3.0 |
|
B | |
| 2136 | chr17 | 58370910 | C | T |
c.375+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 20414 | chr17 | 58370936 | C | T |
c.350G>A
|
p.Arg117His
|
1.0 |
|
B | ||
| 23638 | chr17 | 58370946 | G | A |
c.340C>T
|
p.Arg114Trp
|
3.0 |
|
B | ||
| 28140 | chr17 | 58415455 | TG | T |
c.122del
-
|
p.Ser41Ter
-
|
- | 4.0 |
|
B | |
| 1371 | chr17 | 58415456 | G | C |
c.122C>G
-
|
p.Ser41Ter
-
|
- | 4.0 |
|
B | |
| 34782 | chr17 | 58415535 | A | C |
c.43T>G
-
|
p.Trp15Gly
-
|
- | 3.0 |
|
B | |
| 19144 | chr17 | 58415557 | C | CAGCT |
c.17_20dup
-
|
p.Gln8AlafsTer33
-
|
- | 3.5 |
|
B | |
| 5460 | chr17 | 58415562 | G | A |
c.16C>T
-
|
p.Gln6Ter
-
|
- | 4.0 |
|
B | |
| 24652 | chr17 | 58415563 | G | GTAGCATGAGTGGTGGCCACCAGCTGCAGCTGGCTGCCCTCTGGCCCTGGCTGCTGA |
c.14_15insTCAGCAGCCAGGGCCAGAGGGCAGCCAGCTGCAGCTGGTGGCCACCACTCATGCTA
-
|
p.Leu7GlnfsTer30
-
|
- | 3.5 |
|
B | |
| 32953 | chr17 | 58692740 | C | T |
-
c.97C>T
-
|
-
p.Gln33Ter
-
|
4.0 |
|
B | ||
| 19110 | chr17 | 58695006 | G | T |
-
c.221G>T
-
|
-
p.Arg74Ile
-
|
- | 3.0 |
|
B | |
| 19224 | chr17 | 58695027 | C | A |
-
c.242C>A
-
|
-
p.Ser81Ter
-
|
- | 4.0 |
|
B | |
| 19225 | chr17 | 58695118 | T | TG |
-
c.338dup
-
|
-
p.Gly114TrpfsTer41
-
|
4.0 |
|
B |