Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9077 | chr8 | 37831533 | C | T |
c.1043C>T
|
p.Thr348Ile
|
3.0 |
|
B | ||
| 30837 | chr8 | 37831554 | C | T |
c.1064C>T
|
p.Ala355Val
|
- | 3.0 |
|
B | |
| 9454 | chr8 | 37833069 | C | A |
c.1157C>A
|
p.Thr386Asn
|
- | 3.0 |
|
B | |
| 16538 | chr8 | 37833096 | C | G |
c.1184C>G
|
p.Pro395Arg
|
- | 3.0 |
|
B | |
| 29469 | chr8 | 37833122 | G | T |
c.1210G>T
|
p.Asp404Tyr
|
- | 3.0 |
|
B | |
| 22534 | chr8 | 37833722 | C | G |
c.1331C>G
|
p.Ala444Gly
|
3.0 |
|
B | ||
| 27976 | chr8 | 37833976 | G | C |
c.1456G>C
|
p.Val486Leu
|
- | 3.0 |
|
B | |
| 31319 | chr8 | 37834024 | CT | C |
c.1505del
|
p.Leu502ArgfsTer35
|
- | 3.0 |
|
B | |
| 5782 | chr8 | 37835178 | C | T |
c.1613C>T
|
p.Ala538Val
|
3.0 |
|
B | ||
| 27566 | chr8 | 37835279 | C | T |
c.1714C>T
|
p.Arg572Trp
|
3.0 |
|
B | ||
| 1563 | chr8 | 37835314 | G | C |
c.1749G>C
|
p.Glu583Asp
|
- | 3.0 |
|
B | |
| 25552 | chr8 | 37835404 | C | T |
c.1833+6C>T
|
-
|
3.0 |
|
B | ||
| 26428 | chr8 | 37835542 | A | T |
c.1834-12A>T
|
-
|
- | 3.0 |
|
B | |
| 30134 | chr8 | 37835584 | C | T |
c.1864C>T
|
p.Pro622Ser
|
3.0 |
|
B | ||
| 17479 | chr8 | 37835641 | T | G |
c.1921T>G
|
p.Cys641Gly
|
- | 3.0 |
|
B | |
| 7991 | chr8 | 37835720 | G | A |
c.2000G>A
|
p.Gly667Glu
|
- | 3.0 |
|
B | |
| 17304 | chr8 | 37835787 | C | T |
c.2050+17C>T
|
-
|
- | 3.0 |
|
B | |
| 770 | chr8 | 37837811 | G | GCT |
c.2132_2133dup
|
p.Trp712LeufsTer45
|
- | 3.0 |
|
B | |
| 35050 | chr8 | 37839545 | T | A |
c.2434T>A
-
|
p.Cys812Ser
-
|
- | 3.0 |
|
B | |
| 7177 | chr8 | 37840211 | G | A |
c.2602G>A
-
|
p.Ala868Thr
-
|
3.0 |
|
B |