Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6353 | chr6 | 44253097 | CCTACGGCTGGACAGCCAATATGGAGCG | C |
c.1785_1811del
-
|
p.Tyr596_Arg604del
-
|
- | 3.0 |
|
B | |
| 2307 | chr6 | 44253171 | A | G |
c.1858A>G
-
-
|
p.Met620Val
-
-
|
3.0 |
|
B | ||
| 7692 | chr6 | 44260129 | C | A |
-
c.934G>T
|
-
p.Gly312Cys
|
- | 3.0 |
|
B | |
| 16733 | chr6 | 44260234 | C | T |
-
c.829G>A
|
-
p.Glu277Lys
|
- | 3.0 |
|
B | |
| 8263 | chr6 | 44260239 | G | T |
-
c.824C>A
|
-
p.Thr275Asn
|
- | 3.0 |
|
B | |
| 9100 | chr6 | 44261658 | T | G |
-
c.659A>C
|
-
p.His220Pro
|
- | 3.0 |
|
B | |
| 13216 | chr6 | 44262583 | C | T |
c.445G>A
|
p.Asp149Asn
|
- | 3.0 |
|
B | |
| 26469 | chr6 | 44262627 | G | A |
c.401C>T
|
p.Ala134Val
|
3.0 |
|
B | ||
| 1921 | chr6 | 44265001 | TGTAA | T |
c.342_345del
|
p.Tyr115SerfsTer13
|
4.0 |
|
B | ||
| 28750 | chr6 | 44265088 | C | T |
c.259G>A
|
p.Gly87Ser
|
- | 3.0 |
|
B | |
| 23047 | chr6 | 44265358 | T | A |
c.-12A>T
|
-
|
- | 3.5 |
|
B | |
| 3643 | chr6 | 44265364 | G | GGCC |
c.-19_-18insGGC
|
-
|
- | 3.0 |
|
B | |
| 3642 | chr6 | 44265368 | GGGC | G |
c.-25_-23del
|
-
|
- | 3.0 |
|
B | |
| 22870 | chr6 | 44265458 | C | T |
-
c.-112G>A
|
-
-
|
3.0 |
|
B | ||
| 31212 | chr6 | 44265585 | C | T |
-
-
|
-
-
|
3.0 |
|
B | ||
| 28991 | chr6 | 44265595 | C | A |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 33455 | chr6 | 44265624 | CG | C |
-
-
|
-
-
|
4.0 |
|
B | ||
| 14731 | chr6 | 44265663 | C | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 14855 | chr6 | 44265698 | C | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 4674 | chr6 | 44270864 | C | T |
c.122C>T
|
p.Pro41Leu
|
- | 3.0 |
|
B |