Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34981 | chr18 | 22172111 | TACC | T |
c.996_998del
|
p.His333del
|
2.0 |
|
B | ||
| 5018 | chr18 | 22172111 | TACCACCACCACC | T |
c.987_998del
|
p.His330_His333del
|
3.0 |
|
B | ||
| 19233 | chr18 | 22172142 | A | C |
c.998A>C
|
p.His333Pro
|
- | 3.0 |
|
B | |
| 18177 | chr18 | 22172146 | G | A |
c.1002G>A
|
p.Pro334=
|
2.0 |
|
B | ||
| 28224 | chr18 | 22172247 | C | T |
c.1103C>T
|
p.Ala368Val
|
3.0 |
|
B | ||
| 6288 | chr18 | 22172295 | C | T |
c.1135+16C>T
|
-
|
2.5 |
|
B | ||
| 12844 | chr18 | 22176973 | C | T |
c.1154C>T
|
p.Ser385Phe
|
- | 3.0 |
|
B | |
| 7868 | chr18 | 22181525 | G | A |
c.1375G>A
|
p.Ala459Thr
|
2.5 |
|
B | ||
| 22108 | chr18 | 22182838 | T | TGCTC |
c.1511_1514dup
|
p.Gly506LeufsTer3
|
- | 3.0 |
|
B | |
| 33973 | chr18 | 22182928 | T | C |
c.1517-12T>C
|
-
|
- | 3.0 |
|
B | |
| 16623 | chr18 | 22182976 | C | T |
c.1553C>T
|
p.Ser518Phe
|
- | 3.0 |
|
B | |
| 30396 | chr18 | 22183015 | C | T |
c.1592C>T
|
p.Ser531Phe
|
3.0 |
|
B | ||
| 28201 | chr18 | 22200701 | G | A |
c.1666G>A
|
p.Glu556Lys
|
3.0 |
|
B | ||
| 21241 | chr18 | 22200783 | C | T |
c.1748C>T
|
p.Ser583Phe
|
3.0 |
|
B | ||
| 11538 | chr18 | 22415588 | C | A |
c.2224G>T
|
p.Ala742Ser
|
- | 3.0 |
|
B | |
| 10627 | chr18 | 22415731 | C | T |
c.2081G>A
|
p.Gly694Glu
|
3.0 |
|
B | ||
| 30706 | chr18 | 22415746 | G | T |
c.2066C>A
|
p.Pro689His
|
3.0 |
|
B | ||
| 9510 | chr18 | 22415852 | C | T |
c.1960G>A
|
p.Glu654Lys
|
- | 3.0 |
|
B | |
| 5409 | chr18 | 22415861 | C | T |
c.1951G>A
|
p.Ala651Thr
|
2.5 |
|
B | ||
| 30707 | chr18 | 22415864 | G | A |
c.1948C>T
|
p.Pro650Ser
|
3.0 |
|
B |