Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35401 | chr3 | 121511878 | C | A |
c.1611+9G>T
|
-
|
- | 3.0 |
|
B | |
| 5987 | chr3 | 121519975 | C | A |
c.1364G>T
|
p.Arg455Leu
|
- | 3.0 |
|
B | |
| 30101 | chr3 | 121520015 | C | T |
c.1324G>A
|
p.Ala442Thr
|
- | 3.0 |
|
B | |
| 10076 | chr3 | 121520036 | C | A |
c.1303G>T
|
p.Gly435Cys
|
- | 3.0 |
|
B | |
| 19417 | chr3 | 121521986 | T | C |
c.1255+17A>G
|
-
|
- | 3.0 |
|
B | |
| 23408 | chr3 | 121522149 | C | T |
c.1109G>A
|
p.Gly370Glu
|
- | 3.0 |
|
B | |
| 1185 | chr3 | 121529667 | A | G |
c.1086T>C
|
p.Tyr362=
|
- | 3.0 |
|
B | |
| 22720 | chr3 | 121529716 | G | C |
c.1037C>G
|
p.Ser346Ter
|
- | 3.0 |
|
B | |
| 11543 | chr3 | 121533031 | T | C |
c.919A>G
|
p.Met307Val
|
3.0 |
|
B | ||
| 20949 | chr3 | 121539466 | G | A |
c.598C>T
|
p.Arg200Cys
|
3.0 |
|
B | ||
| 24093 | chr3 | 121539570 | C | G |
c.494G>C
|
p.Gly165Ala
|
- | 3.0 |
|
B | |
| 20213 | chr3 | 121541336 | TA | T |
c.474+12del
|
-
|
- | 3.0 |
|
B | |
| 2008 | chr3 | 121544736 | C | A |
c.334G>T
|
p.Val112Phe
|
- | 3.0 |
|
B | |
| 3210 | chr3 | 121544909 | T | C |
c.164-3A>G
|
-
|
- | 3.0 |
|
B | |
| 5161 | chr3 | 122261991 | G | A |
c.956G>A
|
p.Gly319Glu
|
- | 3.0 |
|
B | |
| 4411 | chr3 | 122714384 | GA | G |
c.3965del
|
p.Asn1322IlefsTer26
|
3.0 |
|
B | ||
| 28135 | chr3 | 122714389 | A | T |
c.3960A>T
|
p.Lys1320Asn
|
- | 3.0 |
|
B | |
| 4649 | chr3 | 124666452 | A | T |
c.6349A>T
|
p.Thr2117Ser
|
- | 3.0 |
|
B | |
| 3623 | chr3 | 126475696 | TCC | T |
c.168_169del
|
p.Glu57GlyfsTer197
|
- | 3.0 |
|
B | |
| 4650 | chr3 | 126524402 | T | TAGGAGCAGGA |
c.70_71insAGGAGCAGGA
|
p.Cys24Ter
|
- | 3.0 |
|
B |