Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22559 | chr13 | 23337221 | G | T |
c.6655C>A
|
p.Leu2219Met
|
- | 3.0 |
|
B | |
| 27357 | chr13 | 23337245 | G | C |
c.6631C>G
|
p.Gln2211Glu
|
3.0 |
|
B | ||
| 16803 | chr13 | 23337374 | C | T |
c.6502G>A
|
p.Val2168Met
|
- | 3.0 |
|
B | |
| 13402 | chr13 | 23337631 | T | A |
c.6245A>T
|
p.Asn2082Ile
|
- | 3.0 |
|
B | |
| 31326 | chr13 | 23337667 | G | A |
c.6209C>T
|
p.Ala2070Val
|
- | 3.0 |
|
B | |
| 32112 | chr13 | 23337689 | G | GA |
c.6186dup
|
p.Pro2063SerfsTer7
|
- | 3.0 |
|
B | |
| 9533 | chr13 | 23337703 | G | GA |
c.6172dup
|
p.Ser2058PhefsTer2
|
3.0 |
|
B | ||
| 2134 | chr13 | 23337740 | G | C |
c.6136C>G
|
p.Leu2046Val
|
- | 3.0 |
|
B | |
| 18367 | chr13 | 23338046 | CA | C |
c.5829del
|
p.Tyr1943Ter
|
- | 3.0 |
|
B | |
| 13342 | chr13 | 23338090 | C | T |
c.5786G>A
|
p.Arg1929Gln
|
3.0 |
|
B | ||
| 2751 | chr13 | 23338091 | G | A |
c.5785C>T
|
p.Arg1929Trp
|
2.5 |
|
B | ||
| 31436 | chr13 | 23338100 | T | A |
c.5776A>T
|
p.Ser1926Cys
|
- | 3.0 |
|
B | |
| 29798 | chr13 | 23338319 | G | T |
c.5557C>A
|
p.Leu1853Met
|
- | 3.0 |
|
B | |
| 8651 | chr13 | 23338401 | G | C |
c.5475C>G
|
p.Asp1825Glu
|
- | 3.0 |
|
B | |
| 29718 | chr13 | 23338559 | T | C |
c.5317A>G
|
p.Arg1773Gly
|
- | 3.0 |
|
B | |
| 2393 | chr13 | 23338720 | C | G |
c.5156G>C
|
p.Cys1719Ser
|
3.0 |
|
B | ||
| 5945 | chr13 | 23338724 | AT | A |
c.5151del
|
p.Lys1717AsnfsTer8
|
3.0 |
|
B | ||
| 18241 | chr13 | 23338751 | G | C |
c.5125C>G
|
p.Gln1709Glu
|
- | 3.0 |
|
B | |
| 8806 | chr13 | 23338825 | A | G |
c.5051T>C
|
p.Ile1684Thr
|
3.0 |
|
B | ||
| 16111 | chr13 | 23339366 | C | A |
c.4510G>T
|
p.Asp1504Tyr
|
- | 3.0 |
|
B |