Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20266 | chr1 | 77962795 | C | T |
c.1319G>A
|
p.Arg440Gln
|
3.0 |
|
B | ||
| 9691 | chr1 | 77963588 | A | C |
c.1169T>G
|
p.Leu390Ter
|
- | 4.0 |
|
B | |
| 2907 | chr1 | 77963667 | C | T |
c.1090G>A
|
p.Gly364Ser
|
3.0 |
|
B | ||
| 30058 | chr1 | 77963693 | C | T |
c.1064G>A
|
p.Gly355Glu
|
- | 3.0 |
|
B | |
| 6083 | chr1 | 77963710 | ACCAG | A |
c.1043_1046del
|
p.Ala348ValfsTer42
|
- | 4.0 |
|
B | |
| 29043 | chr1 | 77964112 | G | A |
c.991C>T
|
p.Arg331Ter
|
- | 4.0 |
|
B | |
| 35586 | chr1 | 77964161 | AT | A |
c.941del
|
p.Asp314ValfsTer9
|
- | 4.0 |
|
B | |
| 7730 | chr1 | 77964284 | C | T |
c.910G>A
|
p.Asp304Asn
|
- | 3.0 |
|
B | |
| 30807 | chr1 | 77964690 | G | A |
c.793C>T
|
p.Arg265Trp
|
3.0 |
|
B | ||
| 31552 | chr1 | 77964850 | AAGTATAAAGTTAAGTTTACTTGAACTTTATATGGGTCTCCTGTAATCCTAAGAGGTTTGTCAGCACCAGTGTTCTG | A |
c.679_735+19del
|
p.?
|
- | 4.0 |
|
B | |
| 25471 | chr1 | 77965221 | G | C |
c.484C>G
|
p.Arg162Gly
|
- | 3.0 |
|
B | |
| 18940 | chr1 | 77966712 | C | T |
c.455G>A
|
p.Gly152Glu
|
- | 3.0 |
|
B | |
| 7619 | chr1 | 77966928 | G | C |
c.371C>G
|
p.Ser124Ter
|
- | 3.5 |
|
B | |
| 10445 | chr1 | 77966963 | GA | G |
c.344-9del
|
-
|
3.0 |
|
B | ||
| 13178 | chr1 | 77966975 | T | A |
c.344-20A>T
|
-
|
3.0 |
|
B | ||
| 24362 | chr1 | 77967102 | C | G |
c.291-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 29929 | chr1 | 77968219 | T | C |
c.212-16A>G
|
-
|
- | 3.0 |
|
B | |
| 30059 | chr1 | 77969924 | C | T |
c.211+1G>A
|
p.?
|
4.0 |
|
B | ||
| 5002 | chr1 | 77969998 | TC | T |
c.137del
|
p.Gly46GlufsTer8
|
- | 4.0 |
|
B | |
| 23597 | chr1 | 77978881 | TTACC | T |
c.120_120+3del
|
p.?
|
- | 4.0 |
|
B |