Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4651 | chr3 | 126733085 | C | T |
c.274C>T
|
p.Gln92Ter
|
- | 3.0 |
|
B | |
| 3624 | chr3 | 127007807 | C | T |
c.2006C>T
|
p.Ser669Phe
|
3.0 |
|
B | ||
| 11124 | chr3 | 127677284 | C | T |
-
c.760C>T
|
-
p.Arg254Ter
|
- | 3.0 |
|
B | |
| 25151 | chr3 | 128481128 | G | A |
c.1334C>T
|
p.Pro445Leu
|
3.0 |
|
B | ||
| 2953 | chr3 | 128481131 | G | A |
c.1331C>T
|
p.Pro444Leu
|
3.0 |
|
B | ||
| 10809 | chr3 | 128481219 | C | T |
c.1243G>A
|
p.Glu415Lys
|
3.0 |
|
B | ||
| 30824 | chr3 | 128481228 | C | G |
c.1234G>C
|
p.Glu412Gln
|
- | 3.0 |
|
B | |
| 8142 | chr3 | 128481282 | G | C |
c.1180C>G
|
p.Gln394Glu
|
- | 3.0 |
|
B | |
| 4164 | chr3 | 128481291 | CCTT | C |
c.1168_1170del
|
p.Lys390del
|
3.0 |
|
B | ||
| 29844 | chr3 | 128481949 | G | A |
c.1018-5C>T
|
-
|
2.5 |
|
B | ||
| 19418 | chr3 | 128481952 | G | T |
c.1018-8C>A
|
-
|
- | 3.0 |
|
B | |
| 10322 | chr3 | 128483867 | C | T |
c.1010G>A
|
p.Arg337Gln
|
3.0 |
|
B | ||
| 24572 | chr3 | 128483969 | G | T |
c.908C>A
|
p.Thr303Asn
|
- | 3.0 |
|
B | |
| 17257 | chr3 | 128483998 | C | T |
c.879G>A
|
p.Arg293=
|
2.0 |
|
B | ||
| 17258 | chr3 | 128484012 | G | A |
c.872-7C>T
|
-
|
2.0 |
|
B | ||
| 10862 | chr3 | 128485715 | A | T |
c.871+12T>A
|
-
|
- | 2.0 |
|
B | |
| 5360 | chr3 | 128485732 | C | T |
c.866G>A
|
p.Cys289Tyr
|
3.0 |
|
B | ||
| 20994 | chr3 | 128485835 | C | T |
c.763G>A
|
p.Ala255Thr
|
- | 3.0 |
|
B | |
| 8364 | chr3 | 128485859 | G | A |
c.739C>T
|
p.Pro247Ser
|
- | 3.0 |
|
B | |
| 8343 | chr3 | 128485998 | AC | A |
c.599del
|
p.Gly200ValfsTer18
|
3.5 |
|
B |