Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3833 | chr3 | 186784438 | TGGC | T |
c.40_42del
|
p.Gly14del
|
3.0 |
|
B | ||
| 16636 | chr3 | 186784439 | G | A |
c.37G>A
|
p.Gly13Ser
|
- | 3.0 |
|
B | |
| 3111 | chr3 | 186784481 | A | G |
c.75+4A>G
|
-
|
3.0 |
|
B | ||
| 31890 | chr3 | 186784633 | T | C |
c.145T>C
|
p.Tyr49His
|
- | 3.0 |
|
B | |
| 7105 | chr3 | 186784979 | C | T |
c.226C>T
-
|
p.Gln76Ter
-
|
- | 3.0 |
|
B | |
| 30102 | chr3 | 186785006 | G | A |
c.253G>A
-
|
p.Ala85Thr
-
|
- | 3.0 |
|
B | |
| 3016 | chr3 | 186785930 | T | C |
c.396T>C
-
|
p.Cys132=
-
|
3.0 |
|
B | ||
| 15174 | chr3 | 186786205 | G | T |
c.559G>T
-
|
p.Glu187Ter
-
|
- | 3.0 |
|
B | |
| 28070 | chr3 | 186786539 | TG | T |
c.667del
-
|
p.Glu223LysfsTer2
-
|
- | 3.0 |
|
B | |
| 7910 | chr3 | 186786568 | C | G |
c.694C>G
-
|
p.Pro232Ala
-
|
- | 3.0 |
|
B | |
| 34528 | chr3 | 186786575 | G | A |
c.701G>A
-
|
p.Arg234Gln
-
|
- | 3.0 |
|
B | |
| 14746 | chr3 | 186786591 | G | A |
c.717G>A
-
|
p.Lys239=
-
|
- | 3.0 |
|
B | |
| 11658 | chr3 | 186786631 | A | AATG |
c.758_760dup
-
|
p.Asn253_Val254insAsp
-
|
- | 3.0 |
|
B | |
| 33367 | chr3 | 186786650 | CTG | C |
c.771+7_771+8del
-
|
-
-
|
3.0 |
|
B | ||
| 24737 | chr3 | 186787248 | TCA | T |
c.896_897del
-
|
p.Thr299SerfsTer7
-
|
3.0 |
|
B | ||
| 30954 | chr3 | 186787547 | CAGGGTCAAGTCGTGTTCTGATCACTACTGACTTGTTGGTAAGTCTCTTAATGCTTTTTAAAAATCTACCAAA | C |
c.965_999+37del
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 6006 | chr3 | 186787562 | T | G |
c.977T>G
-
|
p.Val326Gly
-
|
- | 3.0 |
|
B | |
| 7871 | chr3 | 186787818 | G | C |
c.1015G>C
-
|
p.Val339Leu
-
|
- | 3.0 |
|
B | |
| 30306 | chr3 | 186789124 | G | T |
c.1080-1G>T
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 25285 | chr3 | 187722520 | T | C |
c.2059A>G
|
p.Thr687Ala
|
- | 3.0 |
|
B |