Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32391 | chr18 | 22417508 | C | T |
c.304G>A
|
p.Glu102Lys
|
3.0 |
|
B | ||
| 8943 | chr18 | 22417615 | A | C |
c.197T>G
|
p.Phe66Cys
|
- | 3.0 |
|
B | |
| 7919 | chr18 | 22417763 | G | T |
c.49C>A
|
p.Arg17Ser
|
- | 3.0 |
|
B | |
| 12208 | chr18 | 22417802 | C | T |
c.10G>A
|
p.Asp4Asn
|
3.0 |
|
B | ||
| 19827 | chr18 | 22992889 | GA | G |
c.1071del
|
p.Lys357AsnfsTer3
|
3.0 |
|
B | ||
| 5225 | chr18 | 23819969 | G | A |
c.2276G>A
|
p.Arg759Lys
|
- | 3.0 |
|
B | |
| 15844 | chr18 | 24170366 | AT | A |
c.2378del
|
p.Asn793MetfsTer15
|
3.0 |
|
B | ||
| 13805 | chr18 | 26038621 | C | G |
c.814G>C
|
p.Gly272Arg
|
3.0 |
|
B | ||
| 27367 | chr18 | 26052853 | G | T |
c.386-8C>A
|
-
|
3.0 |
|
B | ||
| 13478 | chr18 | 26078075 | C | T |
c.231+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 24223 | chr18 | 26087532 | G | A |
c.115C>T
|
p.Gln39Ter
|
3.0 |
|
B | ||
| 27399 | chr18 | 26087546 | C | T |
c.101G>A
|
p.Cys34Tyr
|
- | 3.0 |
|
B | |
| 4547 | chr18 | 31008489 | C | T |
c.1300G>A
|
p.Glu434Lys
|
- | 3.0 |
|
B | |
| 30296 | chr18 | 31068068 | C | T |
c.2653G>A
|
p.Asp885Asn
|
- | 3.0 |
|
B | |
| 23555 | chr18 | 31068968 | C | T |
c.2434G>A
|
p.Gly812Arg
|
3.0 |
|
B | ||
| 29476 | chr18 | 31069078 | C | T |
c.2324G>A
|
p.Gly775Glu
|
- | 3.0 |
|
B | |
| 15845 | chr18 | 31070751 | GTGTT | G |
c.2221_2224del
|
p.Asn741GlnfsTer46
|
- | 3.0 |
|
B | |
| 27888 | chr18 | 31071683 | G | A |
c.2047C>T
|
p.Pro683Ser
|
- | 3.0 |
|
B | |
| 28584 | chr18 | 31071756 | C | A |
c.1974G>T
|
p.Met658Ile
|
- | 3.0 |
|
B | |
| 19343 | chr18 | 31071760 | C | T |
c.1970G>A
|
p.Gly657Asp
|
- | 3.0 |
|
B |