Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9953 | chr1 | 26774862 | G | T |
c.4635G>T
|
p.Trp1545Cys
|
- | 3.0 |
|
B | |
| 33433 | chr1 | 26774890 | T | TA |
c.4664dup
|
p.Tyr1555Ter
|
- | 4.0 |
|
B | |
| 5204 | chr1 | 26774967 | TCA | T |
c.4743_4744del
|
p.Ile1582SerfsTer20
|
- | 4.0 |
|
B | |
| 34388 | chr1 | 26775004 | C | T |
c.4777C>T
|
p.Arg1593Trp
|
2.0 |
|
B | ||
| 9954 | chr1 | 26775010 | A | ATGGAGG |
c.4788_4789insGTGGAG
|
p.Glu1596_Asn1597insValGlu
|
- | 3.0 |
|
B | |
| 17189 | chr1 | 26775095 | C | T |
c.4868C>T
|
p.Ser1623Leu
|
3.0 |
|
B | ||
| 9380 | chr1 | 26775177 | GC | G |
c.4952del
|
p.Pro1651LeufsTer3
|
- | 4.0 |
|
B | |
| 8570 | chr1 | 26775228 | G | A |
c.4993+8G>A
|
-
|
3.0 |
|
B | ||
| 29813 | chr1 | 26775575 | A | G |
c.4994-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 3208 | chr1 | 26779033 | T | A |
c.5135T>A
|
p.Leu1712Ter
|
- | 4.0 |
|
B | |
| 14564 | chr1 | 26779038 | G | C |
c.5140G>C
|
p.Glu1714Gln
|
- | 3.0 |
|
B | |
| 8694 | chr1 | 26779045 | T | G |
c.5147T>G
|
p.Leu1716Arg
|
- | 3.0 |
|
B | |
| 33335 | chr1 | 26779059 | C | T |
c.5161C>T
|
p.Arg1721Ter
|
- | 4.5 |
|
B | |
| 92 | chr1 | 26779062 | C | T |
c.5164C>T
|
p.Arg1722Ter
|
4.67 |
|
A | ||
| 25321 | chr1 | 26779069 | T | C |
c.5171T>C
|
p.Leu1724Pro
|
- | 3.0 |
|
B | |
| 93 | chr1 | 26779185 | G | T |
c.5287G>T
|
p.Glu1763Ter
|
- | 4.67 |
|
A | |
| 14567 | chr1 | 26779197 | G | T |
c.5299G>T
|
p.Glu1767Ter
|
- | 4.0 |
|
B | |
| 94 | chr1 | 26779236 | G | T |
c.5338G>T
|
p.Glu1780Ter
|
- | 4.67 |
|
A | |
| 23596 | chr1 | 26779299 | AGT | A |
c.5403_5404del
|
p.Ser1801ArgfsTer7
|
- | 4.0 |
|
B | |
| 25322 | chr1 | 26779348 | T | C |
c.5450T>C
|
p.Val1817Ala
|
- | 3.0 |
|
B |