Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12797 | chr2 | 108766145 | C | T |
c.5606C>T
|
p.Ser1869Leu
|
- | 3.0 |
|
B | |
| 21968 | chr2 | 108766454 | C | G |
c.5915C>G
|
p.Ser1972Ter
|
- | 4.0 |
|
B | |
| 1334 | chr2 | 108766721 | AAATTCTC | A |
c.6185_6191del
|
p.Ile2062LysfsTer8
|
- | 4.0 |
|
B | |
| 11764 | chr2 | 108766789 | T | C |
c.6250T>C
|
p.Cys2084Arg
|
- | 3.0 |
|
B | |
| 22570 | chr2 | 108766809 | G | A |
c.6270G>A
|
p.Thr2090=
|
2.0 |
|
B | ||
| 8730 | chr2 | 108766877 | CT | C |
c.6339del
|
p.Asp2114MetfsTer6
|
- | 3.5 |
|
B | |
| 22687 | chr2 | 108767177 | C | G |
c.6638C>G
|
p.Pro2213Arg
|
- | 3.0 |
|
B | |
| 25599 | chr2 | 108767441 | A | T |
c.6902A>T
|
p.Gln2301Leu
|
- | 3.5 |
|
B | |
| 28114 | chr2 | 108767659 | A | T |
c.7120A>T
|
p.Arg2374Trp
|
- | 3.0 |
|
B | |
| 1870 | chr2 | 108767761 | G | T |
c.7222G>T
|
p.Asp2408Tyr
|
- | 3.0 |
|
B | |
| 2231 | chr2 | 108767883 | G | C |
c.7344G>C
|
p.Leu2448Phe
|
- | 3.0 |
|
B | |
| 23033 | chr2 | 108768036 | C | CACATCTGAACCAAATACAAACTTTGGAGGAGAAACCACTGCTTTTGGTGTTGTTTCAGATGTGCTAGACACTTCAACTTCTGAAGTTGCATCTGCT |
c.7506_7507insCCAAATACAAACTTTGGAGGAGAAACCACTGCTTTTGGTGTTGTTTCAGATGTGCTAGACACTTCAACTTCTGAAGTTGCATCTGCTACATCTGAA
|
p.Glu2502_Thr2503insProAsnThrAsnPheGlyGlyGluThrThrAlaPheGlyValValSerAspValLeuAspThrSerThrSerGluValAlaSerAlaThrSerGlu
|
- | 3.5 |
|
B | |
| 25608 | chr2 | 108775853 | C | T |
c.8414C>T
|
p.Ser2805Leu
|
3.0 |
|
B | ||
| 20517 | chr2 | 108782212 | C | T |
c.8845C>T
-
|
p.Gln2949Ter
-
|
- | 4.0 |
|
B | |
| 18638 | chr2 | 108782239 | A | G |
c.8872A>G
-
|
p.Ile2958Val
-
|
- | 3.0 |
|
B | |
| 16694 | chr2 | 108782320 | C | T |
c.8953C>T
-
|
p.His2985Tyr
-
|
- | 3.0 |
|
B | |
| 21812 | chr2 | 108782324 | T | C |
c.8957T>C
-
|
p.Val2986Ala
-
|
- | 3.0 |
|
B | |
| 26281 | chr2 | 108782587 | T | C |
c.9094T>C
-
|
p.Cys3032Arg
-
|
- | 3.0 |
|
B | |
| 804 | chr2 | 108782728 | C | T |
c.9235C>T
-
|
p.Arg3079Trp
-
|
3.0 |
|
B | ||
| 16695 | chr2 | 108782807 | G | A |
c.9314G>A
-
|
p.Gly3105Asp
-
|
- | 3.0 |
|
B |