Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34235 | chr17 | 31334877 | C | G |
c.5852C>G
|
p.Pro1951Arg
|
- | 3.0 |
|
B | |
| 1136 | chr17 | 31334927 | C | T |
c.5902C>T
|
p.Arg1968Ter
|
4.5 |
|
B | ||
| 8157 | chr17 | 31334930 | CAA | C |
c.5907_5908del
|
p.Arg1970SerfsTer6
|
4.0 |
|
B | ||
| 8479 | chr17 | 31334938 | T | TA |
c.5914dup
|
p.Thr1972AsnfsTer5
|
4.0 |
|
B | ||
| 7544 | chr17 | 31336328 | A | G |
c.6007-5A>G
|
-
|
4.0 |
|
B | ||
| 24331 | chr17 | 31336335 | T | A |
c.6009T>A
|
p.Ile2003=
|
- | 3.0 |
|
B | |
| 25463 | chr17 | 31336348 | G | C |
c.6022G>C
|
p.Asp2008His
|
- | 3.5 |
|
B | |
| 11431 | chr17 | 31336429 | GC | G |
c.6104del
|
p.Ala2035ValfsTer2
|
- | 4.0 |
|
B | |
| 2683 | chr17 | 31336473 | G | A |
c.6147G>A
|
p.Lys2049=
|
- | 3.5 |
|
B | |
| 34236 | chr17 | 31336476 | A | C |
c.6147+3A>C
|
-
|
- | 3.0 |
|
B | |
| 9231 | chr17 | 31336649 | G | A |
c.6162G>A
|
p.Met2054Ile
|
3.0 |
|
B | ||
| 15040 | chr17 | 31336698 | C | T |
c.6211C>T
|
p.Gln2071Ter
|
4.5 |
|
B | ||
| 8151 | chr17 | 31336732 | CA | C |
c.6246del
|
p.Arg2083AlafsTer4
|
4.0 |
|
B | ||
| 27538 | chr17 | 31336779 | GCTCATCTTCC | G |
c.6295_6304del
|
p.His2099ThrfsTer9
|
- | 4.0 |
|
B | |
| 25978 | chr17 | 31336863 | G | T |
c.6376G>T
|
p.Val2126Phe
|
- | 3.0 |
|
B | |
| 29809 | chr17 | 31336905 | C | T |
c.6418C>T
|
p.His2140Tyr
|
- | 3.0 |
|
B | |
| 21548 | chr17 | 31336919 | G | T |
c.6427+5G>T
|
-
|
- | 3.0 |
|
B | |
| 12655 | chr17 | 31337513 | CT | C |
c.6574del
|
p.Tyr2192MetfsTer8
|
- | 4.0 |
|
B | |
| 3253 | chr17 | 31337516 | T | TGA |
c.6585_6586dup
|
p.Thr2196ArgfsTer5
|
- | 4.0 |
|
B | |
| 34387 | chr17 | 31337559 | G | A |
c.6619G>A
|
p.Glu2207Lys
|
- | 3.0 |
|
B |