Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27985 | chr20 | 41166458 | G | T |
c.2001-18G>T
|
-
|
- | 3.0 |
|
B | |
| 10135 | chr20 | 41166486 | G | T |
c.2011G>T
|
p.Ala671Ser
|
3.0 |
|
B | ||
| 1139 | chr20 | 41166537 | G | C |
c.2062G>C
|
p.Asp688His
|
- | 3.0 |
|
B | |
| 28446 | chr20 | 41166556 | G | A |
c.2081G>A
|
p.Arg694Gln
|
- | 3.0 |
|
B | |
| 8423 | chr20 | 41166597 | T | C |
c.2120+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 11951 | chr20 | 41166600 | G | A |
c.2120+5G>A
|
-
|
- | 3.0 |
|
B | |
| 14553 | chr20 | 41166816 | G | A |
c.2258G>A
|
p.Arg753His
|
3.0 |
|
B | ||
| 35064 | chr20 | 41167848 | C | G |
c.2302-4C>G
|
-
|
3.0 |
|
B | ||
| 23299 | chr20 | 41167939 | A | C |
c.2379+10A>C
|
-
|
- | 3.0 |
|
B | |
| 26624 | chr20 | 41172197 | C | T |
c.2813C>T
|
p.Thr938Ile
|
- | 3.0 |
|
B | |
| 8675 | chr20 | 41172435 | C | G |
c.2920C>G
|
p.Arg974Gly
|
- | 3.0 |
|
B | |
| 29194 | chr20 | 41172467 | G | A |
c.2952G>A
|
p.Pro984=
|
- | 3.0 |
|
B | |
| 19239 | chr20 | 41172498 | G | C |
c.2983G>C
|
p.Ala995Pro
|
- | 3.0 |
|
B | |
| 13038 | chr20 | 41172570 | G | C |
c.3055G>C
|
p.Asp1019His
|
- | 3.0 |
|
B | |
| 15137 | chr20 | 41172598 | T | G |
c.3083T>G
|
p.Met1028Arg
|
- | 3.0 |
|
B | |
| 1889 | chr20 | 41172766 | G | T |
c.3168G>T
|
p.Thr1056=
|
- | 3.0 |
|
B | |
| 16857 | chr20 | 41173495 | G | A |
c.3355G>A
-
|
p.Ala1119Thr
-
|
- | 3.0 |
|
B | |
| 26162 | chr20 | 41173541 | C | T |
c.3394+7C>T
-
|
-
-
|
3.0 |
|
B | ||
| 10123 | chr20 | 41173661 | G | T |
c.3404G>T
-
|
p.Gly1135Val
-
|
- | 3.0 |
|
B | |
| 1405 | chr20 | 41173740 | GTATGAGGAAGAC | G |
c.3484_3495del
-
|
p.Tyr1162_Asp1165del
-
|
- | 3.0 |
|
B |