Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3611 | chr1 | 228316976 | C | T |
c.16424C>T
|
p.Thr5475Ile
|
3.0 |
|
B | ||
| 3281 | chr1 | 228335217 | C | T |
c.19195C>T
|
p.Gln6399Ter
|
- | 3.0 |
|
B | |
| 3299 | chr1 | 229594649 | G | A |
c.1418C>T
|
p.Ser473Phe
|
- | 3.0 |
|
B | |
| 5150 | chr1 | 230912655 | C | T |
c.2197G>A
|
p.Gly733Arg
|
- | 3.0 |
|
B | |
| 3519 | chr1 | 230978734 | CCAG | C |
c.94_96del
-
|
p.Leu32del
-
|
3.0 |
|
B | ||
| 3612 | chr1 | 230978769 | C | CTGTGGCCG |
c.61_62insCGGCCACA
-
|
p.Gly21AlafsTer78
-
|
- | 3.0 |
|
B | |
| 3613 | chr1 | 230978775 | GCGGCCACA | G |
c.48_55del
-
|
p.Val17ArgfsTer80
-
|
- | 3.0 |
|
B | |
| 19371 | chr1 | 230995820 | CA | C |
c.518del
|
p.Lys173SerfsTer8
|
3.0 |
|
B | ||
| 22545 | chr1 | 230995826 | A | G |
c.515A>G
|
p.Lys172Arg
|
- | 3.0 |
|
B | |
| 3614 | chr1 | 231163646 | G | C |
c.677G>C
|
p.Cys226Ser
|
- | 3.0 |
|
B | |
| 24385 | chr1 | 231338593 | G | A |
-
c.210G>A
|
-
p.Val70=
|
- | 3.0 |
|
B | |
| 2780 | chr1 | 231347920 | A | G |
c.445A>G
|
p.Ile149Val
|
3.0 |
|
B | ||
| 16921 | chr1 | 231351324 | T | G |
c.471T>G
|
p.Asp157Glu
|
- | 3.0 |
|
B | |
| 8166 | chr1 | 231351571 | G | A |
c.718G>A
|
p.Asp240Asn
|
- | 3.0 |
|
B | |
| 19372 | chr1 | 231352598 | C | CT |
c.719-6dup
|
-
|
- | 3.0 |
|
B | |
| 22824 | chr1 | 231352616 | C | T |
c.725C>T
|
p.Pro242Leu
|
- | 3.0 |
|
B | |
| 4321 | chr1 | 231352661 | G | A |
c.770G>A
|
p.Gly257Glu
|
- | 3.0 |
|
B | |
| 2272 | chr1 | 231352673 | G | A |
c.782G>A
|
p.Gly261Glu
|
3.0 |
|
B | ||
| 10961 | chr1 | 231352778 | C | T |
c.887C>T
|
p.Pro296Leu
|
1.0 |
|
B | ||
| 1646 | chr1 | 231353147 | A | AT |
c.1263dup
|
p.Ile422TyrfsTer11
|
3.5 |
|
B |