Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29657 | chr16 | 3582523 | G | A |
c.5324C>T
|
p.Pro1775Leu
|
- | 3.0 |
|
B | |
| 20686 | chr16 | 3582529 | TACAGCAGC | T |
c.5310_5317del
|
p.Leu1771ProfsTer4
|
- | 4.0 |
|
B | |
| 20687 | chr16 | 3582542 | T | A |
c.5305A>T
|
p.Lys1769Ter
|
- | 4.0 |
|
B | |
| 23083 | chr16 | 3582607 | AC | A |
c.5239del
|
p.Val1747CysfsTer10
|
- | 4.0 |
|
B | |
| 19023 | chr16 | 3583271 | G | A |
c.4979C>T
|
p.Ala1660Val
|
- | 3.0 |
|
B | |
| 8906 | chr16 | 3583451 | T | C |
c.4799A>G
|
p.Gln1600Arg
|
- | 3.0 |
|
B | |
| 17530 | chr16 | 3584763 | G | A |
c.4739+6C>T
|
-
|
3.0 |
|
B | ||
| 17165 | chr16 | 3584793 | G | A |
c.4715C>T
|
p.Pro1572Leu
|
3.0 |
|
B | ||
| 33131 | chr16 | 3584885 | A | T |
c.4637-14T>A
|
-
|
- | 3.0 |
|
B | |
| 6204 | chr16 | 3589202 | C | T |
c.4436G>A
|
p.Arg1479Gln
|
3.0 |
|
B | ||
| 10115 | chr16 | 3589266 | T | C |
c.4372A>G
|
p.Met1458Val
|
- | 3.0 |
|
B | |
| 1697 | chr16 | 3589620 | G | T |
c.4018C>A
|
p.His1340Asn
|
- | 3.0 |
|
B | |
| 33266 | chr16 | 3589848 | T | C |
c.3790A>G
|
p.Ser1264Gly
|
- | 3.0 |
|
B | |
| 15303 | chr16 | 3590040 | C | T |
c.3598G>A
|
p.Asp1200Asn
|
- | 3.0 |
|
B | |
| 19024 | chr16 | 3590405 | A | G |
c.3233T>C
|
p.Val1078Ala
|
- | 3.0 |
|
B | |
| 16817 | chr16 | 3590447 | C | T |
c.3191G>A
|
p.Gly1064Glu
|
- | 3.0 |
|
B | |
| 7999 | chr16 | 3590477 | G | A |
c.3161C>T
|
p.Ser1054Leu
|
3.0 |
|
B | ||
| 19025 | chr16 | 3590504 | G | A |
c.3134C>T
|
p.Pro1045Leu
|
- | 3.0 |
|
B | |
| 1945 | chr16 | 3590790 | C | G |
c.2848G>C
|
p.Glu950Gln
|
- | 3.0 |
|
B | |
| 9120 | chr16 | 3590790 | C | T |
c.2848G>A
|
p.Glu950Lys
|
- | 3.0 |
|
B |