Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13288 | chr7 | 152176663 | TGAATTATCA | T |
c.8781_8789del
|
p.Asn2929_Asp2931del
|
- | 3.5 |
|
B | |
| 5124 | chr7 | 152176671 | C | G |
c.8782G>C
|
p.Asp2928His
|
- | 3.0 |
|
B | |
| 8131 | chr7 | 152176758 | G | A |
c.8695C>T
|
p.Gln2899Ter
|
- | 4.0 |
|
B | |
| 22749 | chr7 | 152176828 | TG | T |
c.8624del
|
p.Pro2875GlnfsTer31
|
- | 4.0 |
|
B | |
| 17956 | chr7 | 152177055 | C | G |
c.8398G>C
|
p.Glu2800Gln
|
- | 3.0 |
|
B | |
| 329 | chr7 | 152177062 | C | CT |
c.8390dup
|
p.Glu2798GlyfsTer11
|
4.67 |
|
A | ||
| 3545 | chr7 | 152177062 | CT | C |
c.8390del
|
p.Lys2797ArgfsTer26
|
4.0 |
|
B | ||
| 21915 | chr7 | 152177086 | A | T |
c.8367T>A
|
p.Cys2789Ter
|
- | 4.0 |
|
B | |
| 23286 | chr7 | 152177100 | ACTTATCATCAATTGGAAGGTCTAGTTCCT | A |
c.8324_8352del
|
p.Glu2775ValfsTer3
|
- | 4.0 |
|
B | |
| 9669 | chr7 | 152177162 | A | C |
c.8291T>G
|
p.Leu2764Arg
|
- | 3.0 |
|
B | |
| 35558 | chr7 | 152177204 | C | CT |
c.8248dup
|
p.Arg2750LysfsTer6
|
- | 4.0 |
|
B | |
| 7784 | chr7 | 152177208 | A | T |
c.8245T>A
|
p.Leu2749Ile
|
- | 3.0 |
|
B | |
| 25542 | chr7 | 152177280 | C | A |
c.8173G>T
|
p.Glu2725Ter
|
- | 4.0 |
|
B | |
| 10524 | chr7 | 152177319 | A | C |
c.8134T>G
|
p.Leu2712Val
|
- | 3.0 |
|
B | |
| 9388 | chr7 | 152177444 | G | T |
c.8009C>A
|
p.Thr2670Lys
|
- | 3.0 |
|
B | |
| 12278 | chr7 | 152177525 | G | A |
c.7928C>T
|
p.Ser2643Phe
|
- | 3.0 |
|
B | |
| 9129 | chr7 | 152177567 | GGCACTTGTTCCAAATCTGGGT | G |
c.7865_7885del
|
p.His2622_Val2628del
|
- | 3.0 |
|
B | |
| 12943 | chr7 | 152177742 | G | A |
c.7711C>T
|
p.Arg2571Trp
|
2.5 |
|
B | ||
| 25543 | chr7 | 152177906 | C | T |
c.7547G>A
|
p.Arg2516Lys
|
- | 3.0 |
|
B | |
| 35620 | chr7 | 152177950 | AGGCACAAGGAAGCGCTCTTGAC | A |
c.7481_7502del
|
p.Ser2494IlefsTer14
|
- | 4.0 |
|
B |