Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11069 | chr2 | 203870827 | A | C |
c.351A>C
|
p.Gln117His
|
- | 3.0 |
|
B | |
| 18075 | chr2 | 203870843 | G | A |
c.367G>A
|
p.Asp123Asn
|
- | 3.0 |
|
B | |
| 34745 | chr2 | 203870867 | G | A |
c.391G>A
|
p.Val131Met
|
- | 3.0 |
|
B | |
| 2457 | chr2 | 203870887 | G | A |
c.411G>A
|
p.Pro137=
|
2.0 |
|
B | ||
| 9891 | chr2 | 203870888 | C | A |
c.412C>A
|
p.Pro138Thr
|
3.0 |
|
B | ||
| 29492 | chr2 | 203870896 | C | G |
c.420C>G
|
p.Tyr140Ter
|
- | 3.5 |
|
B | |
| 21609 | chr2 | 203871438 | G | A |
c.518G>A
|
p.Gly173Glu
|
- | 3.0 |
|
B | |
| 19973 | chr2 | 203871442 | GT | G |
c.529del
|
p.Tyr177IlefsTer10
|
- | 3.0 |
|
B | |
| 23305 | chr2 | 203955710 | C | A |
c.133C>A
|
p.Pro45Thr
|
- | 3.0 |
|
B | |
| 23855 | chr2 | 203955749 | G | A |
c.172G>A
|
p.Gly58Arg
|
- | 3.0 |
|
B | |
| 12621 | chr2 | 203955893 | T | A |
c.316T>A
|
p.Tyr106Asn
|
- | 3.0 |
|
B | |
| 20294 | chr2 | 203956642 | CT | C |
c.395-10del
|
-
|
3.0 |
|
B | ||
| 3359 | chr2 | 206305825 | G | A |
c.1297G>A
|
p.Glu433Lys
|
- | 3.0 |
|
B | |
| 31353 | chr2 | 207555699 | A | G |
c.64A>G
|
p.Asn22Asp
|
- | 3.0 |
|
B | |
| 5580 | chr2 | 207555749 | G | C |
c.114G>C
|
p.Gln38His
|
- | 3.0 |
|
B | |
| 26353 | chr2 | 207560226 | G | T |
c.115G>T
|
p.Val39Leu
|
3.0 |
|
B | ||
| 1119 | chr2 | 207560278 | T | C |
c.167T>C
|
p.Val56Ala
|
- | 3.0 |
|
B | |
| 2408 | chr2 | 207567506 | A | G |
c.305A>G
|
p.Asp102Gly
|
3.5 |
|
B | ||
| 4242 | chr2 | 207570322 | G | C |
c.505+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 10912 | chr2 | 207597032 | G | A |
c.958G>A
|
p.Asp320Asn
|
- | 3.0 |
|
B |