Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22458 | chr18 | 51067101 | T | C |
c.1222T>C
|
p.Phe408Leu
|
- | 3.0 |
|
B | |
| 21061 | chr18 | 51067134 | G | A |
c.1255G>A
|
p.Gly419Arg
|
- | 3.5 |
|
B | |
| 2212 | chr18 | 51067150 | A | T |
c.1271A>T
|
p.Asp424Val
|
- | 3.0 |
|
B | |
| 15455 | chr18 | 51067154 | T | TAGCA |
c.1275_1276insAGCA
|
p.Val426SerfsTer4
|
- | 4.0 |
|
B | |
| 11085 | chr18 | 51067162 | A | T |
c.1283A>T
|
p.Lys428Met
|
- | 3.0 |
|
B | |
| 15531 | chr18 | 51067187 | G | A |
c.1308G>A
|
p.Lys436=
|
- | 4.0 |
|
B | |
| 728 | chr18 | 51067188 | G | T |
c.1308+1G>T
|
p.?
|
4.5 |
|
B | ||
| 31561 | chr18 | 51076637 | G | C |
c.1309-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 15057 | chr18 | 51076661 | TCGAC | T |
c.1333_1336del
|
p.Gln446CysfsTer29
|
- | 4.0 |
|
B | |
| 6369 | chr18 | 51076662 | C | T |
c.1333C>T
|
p.Arg445Ter
|
4.5 |
|
B | ||
| 15058 | chr18 | 51076666 | A | T |
c.1337A>T
|
p.Gln446Leu
|
- | 3.0 |
|
B | |
| 13777 | chr18 | 51076692 | C | T |
c.1363C>T
|
p.Gln455Ter
|
4.5 |
|
B | ||
| 15059 | chr18 | 51078262 | C | G |
c.1454C>G
|
p.Ser485Ter
|
- | 4.0 |
|
B | |
| 31077 | chr18 | 51078285 | G | C |
c.1477G>C
|
p.Asp493His
|
3.5 |
|
B | ||
| 33233 | chr18 | 51078292 | TTCGTCGCTTATGCATAC | T |
c.1487_1503del
|
p.Arg496GlnfsTer25
|
- | 4.0 |
|
B | |
| 34155 | chr18 | 51078295 | G | T |
c.1487G>T
|
p.Arg496Leu
|
- | 3.5 |
|
B | |
| 8859 | chr18 | 51078298 | G | A |
c.1490G>A
|
p.Arg497His
|
3.5 |
|
B | ||
| 13384 | chr18 | 51078303 | T | C |
c.1495T>C
|
p.Cys499Arg
|
3.5 |
|
B | ||
| 11422 | chr18 | 51078304 | G | A |
c.1496G>A
|
p.Cys499Tyr
|
- | 3.0 |
|
B | |
| 34230 | chr18 | 51078318 | A | C |
c.1510A>C
|
p.Ser504Arg
|
- | 3.0 |
|
B |