Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6088 | chr17 | 31343097 | CTAACTT | C |
c.7159_7164del
|
p.Asn2387_Phe2388del
|
4.0 |
|
B | ||
| 29327 | chr17 | 31343107 | C | G |
c.7161C>G
|
p.Asn2387Lys
|
3.0 |
|
B | ||
| 8317 | chr17 | 31343113 | AT | A |
c.7169del
|
p.Leu2390TrpfsTer6
|
- | 4.0 |
|
B | |
| 13804 | chr17 | 31343136 | G | C |
c.7189+1G>C
|
p.?
|
4.0 |
|
B | ||
| 21549 | chr17 | 31343137 | TA | T |
c.7189+8del
|
-
|
- | 2.0 |
|
B | |
| 766 | chr17 | 31349156 | C | G |
c.7226C>G
|
p.Thr2409Arg
|
- | 3.0 |
|
B | |
| 30465 | chr17 | 31349188 | GT | G |
c.7260del
|
p.Asn2421ThrfsTer11
|
- | 4.0 |
|
B | |
| 5549 | chr17 | 31349230 | CAG | C |
c.7303_7304del
|
p.Ser2435ArgfsTer12
|
4.0 |
|
B | ||
| 544 | chr17 | 31349232 | G | C |
c.7302G>C
|
p.Gln2434His
|
3.0 |
|
B | ||
| 24173 | chr17 | 31350190 | TAC | T |
c.7331_7332del
|
p.Thr2444SerfsTer3
|
- | 4.5 |
|
B | |
| 2228 | chr17 | 31350209 | C | T |
c.7348C>T
|
p.Arg2450Ter
|
4.5 |
|
B | ||
| 25390 | chr17 | 31352273 | C | T |
c.7474C>T
|
p.Gln2492Ter
|
4.5 |
|
B | ||
| 34240 | chr17 | 31356470 | A | T |
c.7626A>T
|
p.Lys2542Asn
|
- | 3.5 |
|
B | |
| 29394 | chr17 | 31356539 | AC | A |
c.7701del
|
p.Met2569Ter
|
4.5 |
|
B | ||
| 29143 | chr17 | 31356965 | CAG | C |
c.7747_7748del
|
p.Arg2583AspfsTer12
|
4.5 |
|
B | ||
| 32875 | chr17 | 31357103 | C | T |
c.7869+13C>T
|
-
|
- | 3.0 |
|
B | |
| 15311 | chr17 | 31357104 | C | CT |
c.7869+19dup
|
-
|
- | 2.0 |
|
B | |
| 1414 | chr17 | 31357268 | G | A |
c.7870-1G>A
|
p.?
|
4.5 |
|
B | ||
| 5866 | chr17 | 31357308 | C | T |
c.7909C>T
|
p.Arg2637Ter
|
4.5 |
|
B | ||
| 7545 | chr17 | 31358488 | TG | T |
c.7980del
|
p.Leu2660PhefsTer19
|
- | 4.5 |
|
B |