Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22506 | chr17 | 31337876 | C | CA |
c.6703dup
|
p.Arg2235LysfsTer7
|
- | 4.0 |
|
B | |
| 29206 | chr17 | 31337876 | C | T |
c.6700C>T
|
p.Gln2234Ter
|
4.5 |
|
B | ||
| 33361 | chr17 | 31338022 | C | A |
c.6705-3C>A
|
-
|
3.0 |
|
B | ||
| 26978 | chr17 | 31338069 | T | C |
c.6749T>C
|
p.Val2250Ala
|
3.0 |
|
B | ||
| 3254 | chr17 | 31338077 | G | A |
c.6757G>A
|
p.Gly2253Arg
|
- | 4.0 |
|
B | |
| 34823 | chr17 | 31338089 | A | T |
c.6769A>T
|
p.Lys2257Ter
|
- | 4.5 |
|
B | |
| 5894 | chr17 | 31338139 | G | A |
c.6819G>A
|
p.Lys2273=
|
3.5 |
|
B | ||
| 8480 | chr17 | 31338140 | G | A |
c.6819+1G>A
|
p.?
|
4.0 |
|
B | ||
| 9838 | chr17 | 31338140 | G | T |
c.6819+1G>T
|
p.?
|
- | 4.5 |
|
B | |
| 2482 | chr17 | 31338733 | CACTT | C |
c.6852_6855del
|
p.Tyr2285ThrfsTer5
|
4.5 |
|
B | ||
| 31507 | chr17 | 31338737 | T | TA |
c.6854dup
|
p.Tyr2285Ter
|
4.5 |
|
B | ||
| 26841 | chr17 | 31340504 | G | A |
c.6922-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 2567 | chr17 | 31340508 | T | C |
c.6925T>C
|
p.Ser2309Pro
|
- | 3.0 |
|
B | |
| 8615 | chr17 | 31340508 | TCG | T |
c.6927_6928del
|
p.Pro2310SerfsTer16
|
- | 4.0 |
|
B | |
| 5895 | chr17 | 31340526 | C | T |
c.6943C>T
|
p.Leu2315Phe
|
- | 3.0 |
|
B | |
| 20989 | chr17 | 31340571 | TTG | T |
c.6990_6991del
|
p.Tyr2331PhefsTer8
|
- | 4.0 |
|
B | |
| 22385 | chr17 | 31343008 | G | A |
c.7063-1G>A
|
p.?
|
4.5 |
|
B | ||
| 7925 | chr17 | 31343048 | G | T |
c.7102G>T
|
p.Glu2368Ter
|
- | 4.0 |
|
B | |
| 16282 | chr17 | 31343053 | G | A |
c.7107G>A
|
p.Trp2369Ter
|
4.0 |
|
B | ||
| 27537 | chr17 | 31343097 | C | CT |
c.7152dup
|
p.Asn2385Ter
|
4.0 |
|
B |