Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29038 | chr3 | 52563379 | T | TC |
c.4034dup
|
p.Glu1346ArgfsTer4
|
- | 4.0 |
|
B | |
| 8695 | chr3 | 52563429 | CT | C |
c.3984del
|
p.Ala1329LeufsTer6
|
- | 4.0 |
|
B | |
| 12158 | chr3 | 52563432 | C | T |
c.3982G>A
|
p.Glu1328Lys
|
- | 3.0 |
|
B | |
| 31325 | chr3 | 52564239 | A | G |
c.3737-6T>C
|
-
|
3.0 |
|
B | ||
| 30099 | chr3 | 52579178 | C | T |
c.3454G>A
|
p.Glu1152Lys
|
- | 3.0 |
|
B | |
| 24158 | chr3 | 52586520 | C | T |
c.3337G>A
|
p.Ala1113Thr
|
3.0 |
|
B | ||
| 33839 | chr3 | 52586584 | C | T |
c.3273G>A
|
p.Trp1091Ter
|
- | 4.0 |
|
B | |
| 6118 | chr3 | 52586643 | A | C |
c.3214T>G
|
p.Phe1072Val
|
- | 3.0 |
|
B | |
| 18774 | chr3 | 52586658 | G | A |
c.3199C>T
|
p.Arg1067Ter
|
- | 4.0 |
|
B | |
| 24412 | chr3 | 52586699 | G | T |
c.3169-11C>A
|
-
|
- | 3.0 |
|
B | |
| 9791 | chr3 | 52587411 | T | TA |
c.3109dup
|
p.Tyr1037LeufsTer8
|
- | 4.0 |
|
B | |
| 3974 | chr3 | 52587430 | C | A |
c.3091G>T
|
p.Glu1031Ter
|
- | 4.0 |
|
B | |
| 1724 | chr3 | 52587448 | G | A |
c.3073C>T
|
p.Arg1025Ter
|
- | 4.0 |
|
B | |
| 15510 | chr3 | 52587469 | C | A |
c.3052G>T
|
p.Glu1018Ter
|
- | 4.0 |
|
B | |
| 575 | chr3 | 52587502 | A | AT |
c.3018dup
|
p.Trp1007MetfsTer12
|
- | 4.0 |
|
B | |
| 19414 | chr3 | 52587503 | T | A |
c.3018A>T
|
p.Lys1006Asn
|
- | 3.0 |
|
B | |
| 17255 | chr3 | 52587523 | G | A |
c.3011-13C>T
|
-
|
3.0 |
|
B | ||
| 24959 | chr3 | 52589201 | C | T |
c.2879G>A
|
p.Arg960His
|
3.0 |
|
B | ||
| 34958 | chr3 | 52589213 | G | C |
c.2867C>G
|
p.Ser956Ter
|
- | 4.0 |
|
B | |
| 5326 | chr3 | 52589228 | C | T |
c.2852G>A
|
p.Gly951Asp
|
3.0 |
|
B |