Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33334 | chr18 | 63355186 | G | A |
c.417+18C>T
|
-
|
3.0 |
|
B | ||
| 16134 | chr18 | 63355254 | C | A |
c.367G>T
|
p.Gly123Ter
|
- | 3.0 |
|
B | |
| 28111 | chr18 | 63355560 | C | T |
c.259G>A
|
p.Val87Met
|
- | 3.0 |
|
B | |
| 30663 | chr18 | 63359727 | G | A |
c.255+9C>T
|
-
|
- | 3.0 |
|
B | |
| 5906 | chr18 | 63655762 | AG | A |
c.1067del
|
p.Pro356LeufsTer18
|
- | 3.0 |
|
B | |
| 14664 | chr18 | 63655773 | C | T |
c.1057G>A
|
p.Gly353Arg
|
3.0 |
|
B | ||
| 5441 | chr18 | 63655860 | C | T |
c.970G>A
|
p.Val324Met
|
2.5 |
|
B | ||
| 5723 | chr18 | 63655868 | C | T |
c.962G>A
|
p.Arg321His
|
3.0 |
|
B | ||
| 4460 | chr18 | 63655899 | C | T |
c.931G>A
|
p.Asp311Asn
|
- | 3.0 |
|
B | |
| 8944 | chr18 | 63656045 | G | C |
c.785C>G
|
p.Thr262Ser
|
- | 3.0 |
|
B | |
| 20692 | chr18 | 63656868 | A | G |
c.731T>C
|
p.Ile244Thr
|
3.0 |
|
B | ||
| 20823 | chr18 | 63656870 | C | T |
c.729G>A
|
p.Met243Ile
|
3.0 |
|
B | ||
| 12768 | chr18 | 63656887 | C | T |
c.712G>A
|
p.Gly238Ser
|
- | 3.0 |
|
B | |
| 1107 | chr18 | 63656931 | G | A |
c.668C>T
|
p.Ser223Leu
|
2.5 |
|
B | ||
| 30883 | chr18 | 63657290 | C | T |
c.592G>A
|
p.Glu198Lys
|
3.0 |
|
B | ||
| 6116 | chr18 | 63657318 | C | A |
c.564G>T
|
p.Lys188Asn
|
3.0 |
|
B | ||
| 35613 | chr18 | 63658534 | A | G |
c.448T>C
|
p.Trp150Arg
|
3.0 |
|
B | ||
| 16481 | chr18 | 63658558 | C | T |
c.424G>A
|
p.Glu142Lys
|
- | 3.0 |
|
B | |
| 23344 | chr18 | 63659383 | G | A |
c.351+16C>T
|
-
|
- | 3.0 |
|
B | |
| 12888 | chr18 | 63659425 | C | T |
c.325G>A
|
p.Gly109Arg
|
3.0 |
|
B |