Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27197 | chr19 | 48497620 | AGCGGTGGCG | A |
c.3440_3448del
|
p.Pro1147_Pro1149del
|
2.5 |
|
B | ||
| 19799 | chr19 | 48497776 | G | GC |
c.3292dup
|
p.Ala1098GlyfsTer442
|
3.0 |
|
B | ||
| 17417 | chr19 | 48497953 | G | A |
c.3116C>T
|
p.Pro1039Leu
|
- | 3.0 |
|
B | |
| 16856 | chr19 | 48497957 | C | T |
c.3112G>A
|
p.Gly1038Ser
|
3.0 |
|
B | ||
| 16475 | chr19 | 48498365 | C | T |
c.2704G>A
|
p.Gly902Ser
|
- | 3.0 |
|
B | |
| 23668 | chr19 | 48498489 | T | G |
c.2580A>C
|
p.Glu860Asp
|
3.0 |
|
B | ||
| 24462 | chr19 | 48498568 | C | T |
c.2501G>A
|
p.Arg834Gln
|
3.0 |
|
B | ||
| 21640 | chr19 | 48498623 | C | T |
c.2446G>A
|
p.Glu816Lys
|
3.0 |
|
B | ||
| 26133 | chr19 | 48498669 | A | G |
c.2400T>C
|
p.Pro800=
|
3.0 |
|
B | ||
| 22212 | chr19 | 48498748 | G | A |
c.2321C>T
|
p.Ser774Leu
|
3.0 |
|
B | ||
| 27564 | chr19 | 48498787 | CGAG | C |
c.2279_2281del
|
p.Pro760del
|
- | 3.0 |
|
B | |
| 23968 | chr19 | 48498895 | G | T |
c.2174C>A
|
p.Pro725His
|
3.0 |
|
B | ||
| 22966 | chr19 | 48499697 | G | A |
c.1372C>T
|
p.Pro458Ser
|
- | 3.0 |
|
B | |
| 14654 | chr19 | 48501021 | G | A |
c.1126C>T
|
p.Leu376Phe
|
- | 3.0 |
|
B | |
| 3745 | chr19 | 48501337 | C | T |
c.947G>A
|
p.Gly316Glu
|
- | 3.0 |
|
B | |
| 3746 | chr19 | 48501340 | A | G |
c.944T>C
|
p.Leu315Pro
|
- | 3.0 |
|
B | |
| 24772 | chr19 | 48502495 | C | T |
c.732G>A
|
p.Gln244=
|
3.0 |
|
B | ||
| 15219 | chr19 | 48502514 | C | T |
c.713G>A
|
p.Arg238Gln
|
- | 3.0 |
|
B | |
| 24168 | chr19 | 48502577 | T | C |
c.650A>G
|
p.Asp217Gly
|
- | 3.0 |
|
B | |
| 14098 | chr19 | 48508891 | G | C |
c.517C>G
|
p.Leu173Val
|
- | 3.0 |
|
B |