Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27769 | chr16 | 58532244 | A | C |
c.6047T>G
|
p.Leu2016Arg
|
- | 3.0 |
|
B | |
| 20910 | chr16 | 58532325 | G | A |
c.5966C>T
|
p.Pro1989Leu
|
- | 3.0 |
|
B | |
| 20911 | chr16 | 58532350 | G | A |
c.5941C>T
|
p.Arg1981Cys
|
3.0 |
|
B | ||
| 34868 | chr16 | 58534257 | G | A |
c.5785C>T
|
p.Arg1929Ter
|
- | 3.0 |
|
B | |
| 4910 | chr16 | 58534299 | C | G |
c.5743G>C
|
p.Ala1915Pro
|
- | 3.0 |
|
B | |
| 5113 | chr16 | 58534350 | A | G |
c.5692T>C
|
p.Phe1898Leu
|
- | 3.0 |
|
B | |
| 25849 | chr16 | 58537156 | C | T |
c.5479G>A
|
p.Gly1827Ser
|
- | 3.0 |
|
B | |
| 17894 | chr16 | 58537191 | G | A |
c.5444C>T
|
p.Ser1815Phe
|
- | 3.0 |
|
B | |
| 29957 | chr16 | 58541537 | TAAGTCATTTGTAGGTAAGAA | T |
c.4744_4763del
|
p.Phe1582LysfsTer19
|
- | 3.0 |
|
B | |
| 19759 | chr16 | 58542343 | CA | C |
c.4576-9del
|
-
|
3.0 |
|
B | ||
| 9774 | chr16 | 58543385 | T | A |
c.4434+222A>T
|
-
|
- | 3.0 |
|
B | |
| 35432 | chr16 | 58543419 | A | G |
c.4434+188T>C
|
-
|
- | 3.0 |
|
B | |
| 15775 | chr16 | 58543672 | A | G |
c.4369T>C
|
p.Cys1457Arg
|
- | 3.0 |
|
B | |
| 7099 | chr16 | 58546718 | G | A |
c.3782C>T
|
p.Ala1261Val
|
- | 3.0 |
|
B | |
| 12039 | chr16 | 58546749 | C | A |
c.3751G>T
|
p.Val1251Phe
|
- | 3.0 |
|
B | |
| 30864 | chr16 | 58547584 | G | GT |
c.3620dup
|
p.Asn1207LysfsTer8
|
- | 3.5 |
|
B | |
| 26287 | chr16 | 58551274 | T | TA |
c.3202-3dup
|
-
|
2.0 |
|
B | ||
| 19693 | chr16 | 58551274 | TA | T |
c.3202-3del
|
-
|
2.5 |
|
B | ||
| 20151 | chr16 | 58551274 | TAA | T |
c.3202-4_3202-3del
|
-
|
3.0 |
|
B | ||
| 9300 | chr16 | 58551710 | G | A |
c.3080C>T
|
p.Pro1027Leu
|
3.0 |
|
B |