Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29140 | chr6 | 167946861 | G | GA |
c.3518dup
|
p.Asn1173LysfsTer2
|
- | 3.5 |
|
B | |
| 25522 | chr6 | 167951544 | CACCCCCTTCCGCCAACCAGAT | C |
c.4192_4212del
|
p.Pro1398_Ile1404del
|
- | 3.0 |
|
B | |
| 11458 | chr6 | 167951905 | T | A |
c.4551T>A
|
p.Ser1517Arg
|
- | 3.0 |
|
B | |
| 22323 | chr6 | 167951920 | GT | G |
c.4567del
|
p.Trp1523GlyfsTer21
|
- | 3.5 |
|
B | |
| 33114 | chr6 | 167962401 | GTGGAGGGAGATTAATGTCAGCCTGTTGT | G |
c.4834-30_4834-3del
|
-
|
- | 3.0 |
|
B | |
| 31663 | chr6 | 167966004 | C | T |
c.5216C>T
|
p.Ala1739Val
|
- | 3.0 |
|
B | |
| 19310 | chr6 | 167966079 | A | C |
c.5257+34A>C
|
-
|
3.0 |
|
B | ||
| 29630 | chr6 | 167969104 | C | T |
c.5258-10C>T
|
-
|
- | 3.0 |
|
B | |
| 16744 | chr6 | 167969874 | C | T |
c.5435C>T
|
p.Ser1812Phe
|
- | 3.0 |
|
B | |
| 3650 | chr6 | 169241766 | C | T |
c.887G>A
|
p.Arg296Lys
|
2.5 |
|
B | ||
| 29631 | chr7 | 500499 | C | T |
c.580+617G>A
|
-
|
- | 3.0 |
|
B | |
| 29075 | chr7 | 501100 | G | A |
c.580+16C>T
|
-
|
3.0 |
|
B | ||
| 22671 | chr7 | 501159 | G | A |
c.537C>T
|
p.Cys179=
|
3.0 |
|
B | ||
| 24368 | chr7 | 510901 | G | C |
c.361C>G
|
p.Pro121Ala
|
- | 3.0 |
|
B | |
| 33205 | chr7 | 511003 | C | T |
c.266-7G>A
|
-
|
3.0 |
|
B | ||
| 24448 | chr7 | 511014 | C | A |
c.266-18G>T
|
-
|
- | 3.0 |
|
B | |
| 16745 | chr7 | 512423 | C | T |
c.193G>A
|
p.Ala65Thr
|
- | 3.0 |
|
B | |
| 31568 | chr7 | 512456 | CTG | C |
c.161-3_161-2del
|
p.?
|
- | 3.0 |
|
B | |
| 19352 | chr7 | 517451 | G | T |
c.103C>A
|
p.Arg35Ser
|
- | 2.5 |
|
B | |
| 28522 | chr7 | 518929 | CGGCACCAACCTCGGCCA | C |
c.56_63+9del
|
p.?
|
- | 3.0 |
|
B |