Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1128 | chr19 | 5221133 | C | T |
c.3322G>A
|
p.Gly1108Ser
|
3.0 |
|
B | ||
| 6627 | chr19 | 5221201 | A | C |
c.3254T>G
|
p.Leu1085Arg
|
- | 3.0 |
|
B | |
| 20167 | chr19 | 5222119 | G | A |
c.3201+4C>T
|
-
|
3.0 |
|
B | ||
| 33915 | chr19 | 5222205 | A | T |
c.3119T>A
|
p.Phe1040Tyr
|
- | 3.0 |
|
B | |
| 12534 | chr19 | 5222683 | G | A |
c.3103+6C>T
|
-
|
3.0 |
|
B | ||
| 33747 | chr19 | 5222760 | C | T |
c.3032G>A
|
p.Arg1011Gln
|
3.0 |
|
B | ||
| 1038 | chr19 | 5222860 | C | T |
c.2932G>A
|
p.Ala978Thr
|
- | 3.0 |
|
B | |
| 32590 | chr19 | 5222937 | G | T |
c.2855C>A
|
p.Pro952Gln
|
- | 3.0 |
|
B | |
| 33861 | chr19 | 5223157 | C | T |
c.2635G>A
|
p.Ala879Thr
|
3.0 |
|
B | ||
| 11201 | chr19 | 5223216 | G | A |
c.2576C>T
|
p.Ala859Val
|
3.0 |
|
B | ||
| 20769 | chr19 | 5223235 | C | T |
c.2557G>A
|
p.Glu853Lys
|
3.0 |
|
B | ||
| 32197 | chr19 | 5223259 | C | G |
c.2533G>C
|
p.Glu845Gln
|
3.0 |
|
B | ||
| 5415 | chr19 | 5229323 | G | T |
c.2369C>A
|
p.Ala790Asp
|
- | 3.0 |
|
B | |
| 12769 | chr19 | 5229477 | G | A |
c.2349+14C>T
|
-
|
3.0 |
|
B | ||
| 12505 | chr19 | 5231369 | T | G |
c.2096A>C
|
p.His699Pro
|
- | 3.0 |
|
B | |
| 1837 | chr19 | 5231472 | C | A |
c.1993G>T
|
p.Asp665Tyr
|
- | 3.0 |
|
B | |
| 19783 | chr19 | 5231599 | AG | A |
c.1865del
|
p.Pro622LeufsTer16
|
3.5 |
|
B | ||
| 33462 | chr19 | 5240269 | C | T |
c.1634G>A
|
p.Trp545Ter
|
- | 3.5 |
|
B | |
| 33677 | chr19 | 5243912 | G | A |
c.1559C>T
|
p.Thr520Met
|
3.0 |
|
B | ||
| 988 | chr19 | 5243945 | T | C |
c.1526A>G
|
p.Asp509Gly
|
- | 3.0 |
|
B |