Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34839 | chr4 | 54736761 | C | A |
c.2637C>A
|
p.Phe879Leu
|
- | 3.0 |
|
B | |
| 31620 | chr4 | 54736767 | G | T |
c.2643G>T
|
p.Lys881Asn
|
- | 3.0 |
|
B | |
| 24008 | chr4 | 54737260 | A | T |
c.2782A>T
|
p.Ile928Phe
|
- | 3.0 |
|
B | |
| 28746 | chr4 | 54738472 | C | T |
c.2846C>T
|
p.Pro949Leu
|
- | 3.0 |
|
B | |
| 35311 | chr4 | 54738502 | C | A |
c.2876C>A
|
p.Ser959Tyr
|
- | 3.0 |
|
B | |
| 7533 | chr4 | 54738537 | C | T |
c.2911C>T
|
p.Leu971Phe
|
3.0 |
|
B | ||
| 25759 | chr4 | 55079969 | C | T |
c.4043G>A
|
p.Gly1348Glu
|
3.0 |
|
B | ||
| 12064 | chr4 | 55080005 | G | T |
c.4007C>A
|
p.Thr1336Asn
|
- | 3.0 |
|
B | |
| 26283 | chr4 | 55080035 | A | C |
c.3977T>G
|
p.Leu1326Arg
|
- | 3.0 |
|
B | |
| 22136 | chr4 | 55080102 | C | T |
c.3910G>A
|
p.Gly1304Ser
|
3.0 |
|
B | ||
| 34578 | chr4 | 55080129 | C | A |
c.3883G>T
|
p.Ala1295Ser
|
- | 3.0 |
|
B | |
| 5903 | chr4 | 55080158 | A | T |
c.3854T>A
|
p.Met1285Lys
|
- | 3.0 |
|
B | |
| 10140 | chr4 | 55081962 | G | A |
c.3842C>T
|
p.Ser1281Phe
|
- | 3.0 |
|
B | |
| 21449 | chr4 | 55081982 | G | C |
c.3822C>G
|
p.Asp1274Glu
|
- | 3.0 |
|
B | |
| 20897 | chr4 | 55082598 | C | T |
c.3700G>A
|
p.Val1234Met
|
3.0 |
|
B | ||
| 30105 | chr4 | 55082644 | G | A |
c.3663-9C>T
|
-
|
- | 3.0 |
|
B | |
| 17953 | chr4 | 55087750 | T | G |
c.3519A>C
|
p.Lys1173Asn
|
- | 3.0 |
|
B | |
| 17490 | chr4 | 55087777 | A | G |
c.3511-19T>C
|
-
|
- | 3.0 |
|
B | |
| 3967 | chr4 | 55088896 | C | T |
c.3482G>A
|
p.Gly1161Glu
|
- | 3.0 |
|
B | |
| 10500 | chr4 | 55088940 | C | A |
c.3438G>T
|
p.Glu1146Asp
|
- | 3.0 |
|
B |