Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14815 | chr18 | 44951888 | G | A |
c.2548G>A
|
p.Glu850Lys
|
- | 3.0 |
|
B | |
| 18028 | chr18 | 44951895 | C | T |
c.2555C>T
|
p.Thr852Met
|
3.0 |
|
B | ||
| 21016 | chr18 | 44951934 | TC | T |
c.2598del
|
p.Ser867AlafsTer94
|
- | 3.0 |
|
B | |
| 10270 | chr18 | 44951937 | C | T |
c.2597C>T
|
p.Pro866Leu
|
- | 3.0 |
|
B | |
| 33508 | chr18 | 44951954 | G | T |
c.2614G>T
|
p.Gly872Trp
|
- | 3.0 |
|
B | |
| 2472 | chr18 | 44952043 | C | A |
c.2703C>A
|
p.Asn901Lys
|
3.0 |
|
B | ||
| 24199 | chr18 | 44952044 | C | A |
c.2704C>A
|
p.Pro902Thr
|
- | 3.0 |
|
B | |
| 5629 | chr18 | 44952090 | A | C |
c.2750A>C
|
p.His917Pro
|
- | 3.0 |
|
B | |
| 34946 | chr18 | 44952090 | A | T |
c.2750A>T
|
p.His917Leu
|
3.0 |
|
B | ||
| 16212 | chr18 | 44952093 | G | A |
c.2753G>A
|
p.Arg918Gln
|
2.0 |
|
B | ||
| 9570 | chr18 | 44952146 | C | T |
c.2806C>T
|
p.Pro936Ser
|
- | 3.0 |
|
B | |
| 8560 | chr18 | 44952290 | A | T |
c.2950A>T
|
p.Ser984Cys
|
- | 3.0 |
|
B | |
| 1220 | chr18 | 44952300 | G | A |
c.2960G>A
|
p.Arg987Gln
|
2.5 |
|
B | ||
| 6971 | chr18 | 44952413 | A | C |
c.3073A>C
|
p.Thr1025Pro
|
- | 3.0 |
|
B | |
| 14392 | chr18 | 44952414 | C | T |
c.3074C>T
|
p.Thr1025Ile
|
3.0 |
|
B | ||
| 17715 | chr18 | 44952434 | G | A |
c.3094G>A
|
p.Val1032Met
|
3.0 |
|
B | ||
| 19780 | chr18 | 44952438 | C | CT |
c.3104dup
|
p.Leu1035PhefsTer74
|
- | 3.0 |
|
B | |
| 3932 | chr18 | 44952636 | C | T |
c.3296C>T
|
p.Ser1099Phe
|
- | 3.0 |
|
B | |
| 11489 | chr18 | 44952641 | G | A |
c.3301G>A
|
p.Val1101Ile
|
1.0 |
|
B | ||
| 18962 | chr18 | 44952699 | C | A |
c.3359C>A
|
p.Pro1120His
|
3.0 |
|
B |