Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28187 | chr6 | 138849368 | G | GGGCAGAAGGCACAGAGCATC |
c.1006_1025dup
|
p.Ile343ArgfsTer31
|
- | 3.5 |
|
B | |
| 3922 | chr6 | 138854070 | G | A |
c.1114G>A
|
p.Asp372Asn
|
3.0 |
|
B | ||
| 16292 | chr6 | 138854075 | C | A |
c.1119C>A
|
p.Phe373Leu
|
- | 3.0 |
|
B | |
| 10449 | chr6 | 138862614 | T | C |
c.1199-13T>C
|
-
|
- | 3.0 |
|
B | |
| 10341 | chr6 | 138865024 | G | A |
c.1320G>A
|
p.Trp440Ter
|
- | 4.0 |
|
B | |
| 10182 | chr6 | 138865055 | G | A |
c.1351G>A
|
p.Glu451Lys
|
3.0 |
|
B | ||
| 17098 | chr6 | 138865059 | C | T |
c.1355C>T
|
p.Ser452Leu
|
3.0 |
|
B | ||
| 4002 | chr6 | 138876472 | G | A |
c.1579G>A
|
p.Glu527Lys
|
1.0 |
|
B | ||
| 34361 | chr6 | 138880949 | C | T |
c.1666-8C>T
|
-
|
- | 3.0 |
|
B | |
| 17780 | chr6 | 138882750 | G | A |
c.1907G>A
|
p.Arg636Lys
|
- | 3.0 |
|
B | |
| 13735 | chr6 | 138882776 | T | A |
c.1933T>A
|
p.Cys645Ser
|
- | 3.0 |
|
B | |
| 16737 | chr6 | 138882785 | G | A |
c.1942G>A
|
p.Glu648Lys
|
- | 3.0 |
|
B | |
| 4301 | chr6 | 138885551 | GATA | G |
c.2076_2078del
|
p.Asp692_Lys693delinsGlu
|
- | 3.0 |
|
B | |
| 28349 | chr6 | 138885706 | G | T |
c.2135G>T
|
p.Arg712Ile
|
- | 3.0 |
|
B | |
| 6200 | chr6 | 138885833 | TG | T |
c.2259+5del
|
-
|
- | 3.0 |
|
B | |
| 4169 | chr6 | 138886862 | GC | G |
c.2266del
|
p.Gln756LysfsTer5
|
- | 3.5 |
|
B | |
| 13397 | chr6 | 138889018 | A | C |
c.2401A>C
|
p.Ser801Arg
|
- | 3.0 |
|
B | |
| 26635 | chr6 | 138902569 | A | G |
c.2657A>G
-
|
p.Asp886Gly
-
|
3.0 |
|
B | ||
| 28957 | chr6 | 146029535 | GT | G |
c.26del
|
p.Phe9SerfsTer119
|
3.0 |
|
B | ||
| 14458 | chr6 | 146029599 | T | G |
c.82T>G
|
p.Leu28Val
|
- | 3.0 |
|
B |