Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11862 | chr12 | 49034129 | C | G |
c.10678G>C
|
p.Asp3560His
|
- | 3.0 |
|
B | |
| 14432 | chr12 | 49034176 | G | C |
c.10631C>G
|
p.Ala3544Gly
|
- | 3.0 |
|
B | |
| 17337 | chr12 | 49034458 | G | A |
c.10459C>T
|
p.Pro3487Ser
|
- | 3.0 |
|
B | |
| 11833 | chr12 | 49037248 | G | A |
c.10108C>T
|
p.Gln3370Ter
|
- | 4.0 |
|
B | |
| 6390 | chr12 | 49037395 | G | A |
c.9961C>T
|
p.Arg3321Ter
|
4.5 |
|
B | ||
| 35205 | chr12 | 49037563 | G | A |
c.9793C>T
|
p.Gln3265Ter
|
4.0 |
|
B | ||
| 25067 | chr12 | 49037605 | C | T |
c.9751G>A
|
p.Asp3251Asn
|
- | 3.0 |
|
B | |
| 20514 | chr12 | 49037678 | AG | A |
c.9677del
|
p.Pro3226LeufsTer8
|
- | 4.0 |
|
B | |
| 8270 | chr12 | 49037703 | C | A |
c.9653G>T
|
p.Gly3218Val
|
- | 3.0 |
|
B | |
| 30340 | chr12 | 49037720 | CT | C |
c.9635del
|
p.Lys3212SerfsTer9
|
- | 4.0 |
|
B | |
| 27877 | chr12 | 49037742 | C | T |
c.9614G>A
|
p.Gly3205Glu
|
3.0 |
|
B | ||
| 15748 | chr12 | 49037769 | A | G |
c.9587T>C
|
p.Leu3196Pro
|
- | 3.0 |
|
B | |
| 1590 | chr12 | 49037810 | CT | C |
c.9545del
|
p.Lys3182ArgfsTer15
|
- | 4.0 |
|
B | |
| 33541 | chr12 | 49037879 | GCTCT | G |
c.9473_9476del
|
p.Gln3158ProfsTer2
|
- | 4.0 |
|
B | |
| 16799 | chr12 | 49038313 | C | T |
c.9043G>A
|
p.Gly3015Ser
|
3.0 |
|
B | ||
| 11769 | chr12 | 49038468 | AGCTCCAAACCAGTT | A |
c.8874_8887del
|
p.Thr2959GlyfsTer9
|
- | 4.0 |
|
B | |
| 18428 | chr12 | 49038528 | T | G |
c.8828A>C
|
p.Asn2943Thr
|
- | 3.0 |
|
B | |
| 1794 | chr12 | 49038625 | CACTT | C |
c.8727_8730del
|
p.Ser2910ArgfsTer32
|
- | 4.0 |
|
B | |
| 1565 | chr12 | 49038666 | C | T |
c.8690G>A
|
p.Gly2897Asp
|
- | 3.0 |
|
B | |
| 8977 | chr12 | 49038676 | G | A |
c.8680C>T
|
p.Pro2894Ser
|
- | 3.0 |
|
B |