Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19542 | chr8 | 102275622 | TAA | T |
c.6631-5_6631-4del
|
-
|
3.0 |
|
B | ||
| 20355 | chr8 | 102275622 | TAAA | T |
c.6631-6_6631-4del
|
-
|
- | 3.0 |
|
B | |
| 7390 | chr8 | 102275775 | C | T |
c.6563G>A
|
p.Arg2188His
|
- | 3.0 |
|
B | |
| 25290 | chr8 | 102275809 | C | T |
c.6529G>A
|
p.Gly2177Arg
|
- | 3.0 |
|
B | |
| 9062 | chr8 | 102277028 | G | C |
c.6453C>G
|
p.Ser2151Arg
|
- | 3.0 |
|
B | |
| 701 | chr8 | 102277120 | C | CT |
c.6360dup
|
p.Glu2121ArgfsTer13
|
- | 3.5 |
|
B | |
| 20043 | chr8 | 102277120 | CT | C |
c.6360del
|
p.Glu2121LysfsTer28
|
3.0 |
|
B | ||
| 35473 | chr8 | 102277194 | T | G |
c.6289-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 1940 | chr8 | 102278887 | G | C |
c.6227C>G
|
p.Ser2076Cys
|
- | 3.0 |
|
B | |
| 22752 | chr8 | 102279053 | G | C |
c.6157C>G
|
p.Gln2053Glu
|
3.0 |
|
B | ||
| 6465 | chr8 | 102279113 | C | A |
c.6097G>T
|
p.Gly2033Trp
|
- | 3.0 |
|
B | |
| 22753 | chr8 | 102281279 | G | C |
c.5927+10C>G
|
-
|
- | 3.0 |
|
B | |
| 22754 | chr8 | 102281362 | G | C |
c.5854C>G
|
p.Gln1952Glu
|
- | 3.0 |
|
B | |
| 9023 | chr8 | 102285196 | T | G |
c.5627A>C
|
p.Gln1876Pro
|
- | 3.0 |
|
B | |
| 621 | chr8 | 102285217 | T | C |
c.5606A>G
|
p.Asn1869Ser
|
3.0 |
|
B | ||
| 1931 | chr8 | 102285535 | TAAGTCAATTTCAC | T |
c.5449_5461del
|
p.Val1817ThrfsTer5
|
- | 3.5 |
|
B | |
| 7572 | chr8 | 102285687 | T | G |
c.5310A>C
|
p.Glu1770Asp
|
- | 3.0 |
|
B | |
| 4697 | chr8 | 102286617 | C | T |
c.4958G>A
|
p.Gly1653Glu
|
- | 3.5 |
|
B | |
| 2392 | chr8 | 102288148 | T | A |
c.4825+7A>T
|
-
|
- | 3.0 |
|
B | |
| 27087 | chr8 | 102288244 | G | A |
c.4736C>T
|
p.Ala1579Val
|
3.0 |
|
B |