Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 929 | chr18 | 51065546 | A | T |
c.1079A>T
|
p.Asp360Val
|
- | 3.0 |
|
B | |
| 33049 | chr18 | 51065546 | AT | A |
c.1080del
|
p.Arg361AlafsTer23
|
- | 4.0 |
|
B | |
| 6676 | chr18 | 51065548 | C | G |
c.1081C>G
|
p.Arg361Gly
|
3.5 |
|
B | ||
| 2076 | chr18 | 51065548 | C | T |
c.1081C>T
|
p.Arg361Cys
|
4.0 |
|
B | ||
| 978 | chr18 | 51065549 | G | A |
c.1082G>A
|
p.Arg361His
|
4.0 |
|
B | ||
| 8698 | chr18 | 51065556 | T | G |
c.1089T>G
|
p.Cys363Trp
|
- | 3.5 |
|
B | |
| 10293 | chr18 | 51065557 | T | A |
c.1090T>A
|
p.Leu364Met
|
- | 3.0 |
|
B | |
| 11696 | chr18 | 51065561 | G | A |
c.1094G>A
|
p.Gly365Asp
|
- | 3.0 |
|
B | |
| 1221 | chr18 | 51065575 | GTCCACAGGAC | G |
c.1109_1118del
|
p.Val370GlufsTer11
|
- | 4.0 |
|
B | |
| 13050 | chr18 | 51065596 | G | GA |
c.1130dup
|
p.Arg378GlufsTer15
|
- | 4.0 |
|
B | |
| 31334 | chr18 | 51065609 | A | G |
c.1139+3A>G
|
-
|
3.0 |
|
B | ||
| 5434 | chr18 | 51066989 | ATAAAATGTAATTTCTTTTTTCTTCC | A |
c.1140-26_1140-2del
|
p.?
|
- | 4.0 |
|
B | |
| 27815 | chr18 | 51066995 | TGTAATTTCTTTTTTCTTCCTAAGGTTGCACATA | T |
c.1140-22_1150del
|
p.?
|
- | 4.0 |
|
B | |
| 20699 | chr18 | 51067010 | C | T |
c.1140-9C>T
|
-
|
- | 3.0 |
|
B | |
| 12054 | chr18 | 51067036 | G | A |
c.1157G>A
|
p.Gly386Asp
|
4.0 |
|
B | ||
| 19148 | chr18 | 51067036 | G | T |
c.1157G>T
|
p.Gly386Val
|
3.5 |
|
B | ||
| 35573 | chr18 | 51067041 | C | T |
c.1162C>T
|
p.Gln388Ter
|
4.5 |
|
B | ||
| 2828 | chr18 | 51067047 | G | T |
c.1168G>T
|
p.Glu390Ter
|
- | 4.0 |
|
B | |
| 22457 | chr18 | 51067088 | T | A |
c.1209T>A
|
p.Ser403Arg
|
- | 3.0 |
|
B | |
| 8275 | chr18 | 51067089 | GACCACGCGGTCTTTGTACAGAGTT | G |
c.1213_1236del
|
p.His405_Tyr412del
|
- | 3.0 |
|
B |