Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31340 | chr3 | 155936415 | C | T |
c.1885C>T
|
p.Pro629Ser
|
- | 3.0 |
|
B | |
| 16034 | chr3 | 155936443 | G | A |
c.1913G>A
|
p.Arg638Gln
|
3.0 |
|
B | ||
| 20303 | chr3 | 155937577 | AT | A |
c.1981-6del
|
-
|
3.0 |
|
B | ||
| 19424 | chr3 | 160426151 | CA | C |
c.2564del
|
p.Lys855SerfsTer5
|
- | 3.0 |
|
B | |
| 4653 | chr3 | 160438579 | C | CT |
-
c.604dup
|
-
p.Ser202LysfsTer8
|
3.0 |
|
B | ||
| 20304 | chr3 | 160438579 | CT | C |
-
c.604del
|
-
p.Ser202ValfsTer3
|
3.0 |
|
B | ||
| 27743 | chr3 | 169084927 | C | A |
c.3702G>T
|
p.Gln1234His
|
- | 3.0 |
|
B | |
| 7839 | chr3 | 169084946 | G | A |
c.3683C>T
|
p.Ala1228Val
|
3.0 |
|
B | ||
| 30179 | chr3 | 169088988 | G | A |
c.3585+12C>T
|
-
|
- | 3.0 |
|
B | |
| 32965 | chr3 | 169088992 | A | C |
c.3585+8T>G
|
-
|
2.0 |
|
B | ||
| 25802 | chr3 | 169088994 | C | T |
c.3585+6G>A
|
-
|
- | 3.0 |
|
B | |
| 16026 | chr3 | 169089044 | G | T |
c.3541C>A
|
p.Pro1181Thr
|
- | 3.0 |
|
B | |
| 14642 | chr3 | 169089064 | G | A |
c.3521C>T
|
p.Ser1174Phe
|
- | 3.0 |
|
B | |
| 22856 | chr3 | 169089155 | G | A |
c.3430C>T
|
p.Leu1144Phe
|
- | 3.0 |
|
B | |
| 30275 | chr3 | 169089175 | T | C |
c.3410A>G
|
p.Glu1137Gly
|
3.0 |
|
B | ||
| 750 | chr3 | 169090094 | C | T |
c.3307G>A
|
p.Glu1103Lys
|
- | 3.0 |
|
B | |
| 9113 | chr3 | 169090149 | C | G |
c.3252G>C
|
p.Glu1084Asp
|
- | 3.0 |
|
B | |
| 17543 | chr3 | 169090250 | TA | T |
c.3165-15del
|
-
|
2.0 |
|
B | ||
| 22285 | chr3 | 169095228 | C | T |
c.2867G>A
|
p.Arg956Lys
|
- | 3.0 |
|
B | |
| 10766 | chr3 | 169102145 | C | T |
c.2686G>A
|
p.Val896Met
|
- | 3.0 |
|
B |