Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35314 | chr5 | 112828020 | T | G |
c.1626+14T>G
|
-
|
- | 3.0 |
|
B | |
| 21697 | chr5 | 112828876 | G | C |
c.1647G>C
|
p.Arg549Ser
|
- | 3.0 |
|
B | |
| 247 | chr5 | 112828889 | C | T |
c.1660C>T
|
p.Arg554Ter
|
4.5 |
|
B | ||
| 248 | chr5 | 112828919 | C | T |
c.1690C>T
|
p.Arg564Ter
|
4.67 |
|
A | ||
| 6170 | chr5 | 112828932 | G | GTGTGA |
c.1704_1708dup
|
p.Lys570MetfsTer2
|
- | 4.0 |
|
B | |
| 249 | chr5 | 112828949 | G | T |
c.1720G>T
|
p.Glu574Ter
|
4.67 |
|
A | ||
| 31125 | chr5 | 112828959 | T | A |
c.1730T>A
|
p.Leu577Ter
|
- | 4.0 |
|
B | |
| 10825 | chr5 | 112828961 | G | A |
c.1732G>A
|
p.Glu578Lys
|
- | 3.0 |
|
B | |
| 11072 | chr5 | 112834949 | A | G |
c.1744-2A>G
|
p.?
|
4.0 |
|
B | ||
| 5966 | chr5 | 112834950 | G | A |
c.1744-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 17515 | chr5 | 112834962 | CA | C |
c.1759del
|
p.Ser587AlafsTer3
|
4.5 |
|
B | ||
| 17153 | chr5 | 112835049 | A | AG |
c.1842_1843insG
|
p.Phe615ValfsTer19
|
- | 4.0 |
|
B | |
| 27944 | chr5 | 112835064 | TCTTA | T |
c.1863_1866del
|
p.Tyr622GlyfsTer7
|
4.5 |
|
B | ||
| 21055 | chr5 | 112835073 | C | G |
c.1866C>G
|
p.Tyr622Ter
|
4.5 |
|
B | ||
| 17171 | chr5 | 112835079 | CCAGA | C |
c.1875_1878del
|
p.Asn627LeufsTer2
|
4.5 |
|
B | ||
| 11530 | chr5 | 112835143 | ATAGC | A |
c.1939_1942del
|
p.Ala647GlnfsTer9
|
- | 4.0 |
|
B | |
| 35505 | chr5 | 112835155 | G | A |
c.1948G>A
|
p.Glu650Lys
|
- | 3.0 |
|
B | |
| 28459 | chr5 | 112835166 | G | T |
c.1958+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 11190 | chr5 | 112837547 | T | G |
c.1959-6T>G
|
-
|
- | 3.0 |
|
B | |
| 11671 | chr5 | 112837552 | G | A |
c.1959-1G>A
|
p.?
|
4.0 |
|
B |