Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24905 | chr5 | 11412079 | A | T |
c.288-10T>A
|
-
|
- | 3.0 |
|
B | |
| 15496 | chr5 | 11732125 | A | T |
c.174+11T>A
|
-
|
- | 3.0 |
|
B | |
| 30735 | chr5 | 11732174 | C | T |
c.136G>A
|
p.Glu46Lys
|
- | 3.0 |
|
B | |
| 31209 | chr5 | 11732221 | G | A |
c.89C>T
|
p.Ser30Phe
|
- | 3.0 |
|
B | |
| 2897 | chr5 | 13753246 | C | T |
c.10859G>A
|
p.Arg3620Gln
|
2.5 |
|
B | ||
| 5528 | chr5 | 14280345 | C | G |
c.256C>G
|
p.Pro86Ala
|
- | 3.0 |
|
B | |
| 28290 | chr5 | 14280429 | A | G |
c.340A>G
|
p.Ile114Val
|
- | 3.0 |
|
B | |
| 9198 | chr5 | 14290870 | C | G |
c.695C>G
|
p.Ser232Cys
|
- | 3.0 |
|
B | |
| 26797 | chr5 | 14293001 | C | T |
c.1054-11C>T
|
-
|
- | 3.0 |
|
B | |
| 13837 | chr5 | 14293014 | G | T |
c.1056G>T
|
p.Met352Ile
|
- | 3.0 |
|
B | |
| 935 | chr5 | 14297068 | C | T |
c.1177-4C>T
|
-
|
- | 3.0 |
|
B | |
| 936 | chr5 | 14297069 | C | T |
c.1177-3C>T
|
-
|
- | 3.0 |
|
B | |
| 8529 | chr5 | 14316552 | C | T |
c.1540C>T
|
p.Arg514Trp
|
- | 3.0 |
|
B | |
| 9091 | chr5 | 14316592 | C | T |
c.1580C>T
|
p.Ser527Phe
|
- | 3.0 |
|
B | |
| 29052 | chr5 | 14316753 | G | A |
c.1731+10G>A
|
-
|
2.0 |
|
B | ||
| 27737 | chr5 | 14330845 | T | G |
c.1799T>G
|
p.Leu600Arg
|
- | 3.0 |
|
B | |
| 24803 | chr5 | 14330901 | G | C |
c.1854+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 35384 | chr5 | 14336604 | C | A |
c.1923C>A
|
p.Asp641Glu
|
- | 3.0 |
|
B | |
| 3867 | chr5 | 14336613 | G | C |
c.1932G>C
|
p.Glu644Asp
|
- | 3.0 |
|
B | |
| 7106 | chr5 | 14336645 | G | A |
c.1964G>A
|
p.Arg655Gln
|
3.0 |
|
B |