Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28825 | chr4 | 186633835 | A | G |
c.4184-12T>C
|
-
|
2.0 |
|
B | ||
| 18090 | chr4 | 186636043 | G | A |
c.4165C>T
|
p.Leu1389Phe
|
- | 3.0 |
|
B | |
| 32598 | chr4 | 186636575 | C | T |
c.3972+10G>A
|
-
|
- | 3.0 |
|
B | |
| 12450 | chr4 | 186636671 | C | G |
c.3886G>C
|
p.Glu1296Gln
|
- | 3.0 |
|
B | |
| 7126 | chr4 | 186636755 | G | A |
c.3802C>T
|
p.Arg1268Trp
|
3.0 |
|
B | ||
| 14388 | chr4 | 186636889 | G | A |
c.3668C>T
|
p.Pro1223Leu
|
3.0 |
|
B | ||
| 14547 | chr4 | 186639706 | T | TA |
c.3642+15dup
|
-
|
2.0 |
|
B | ||
| 12937 | chr4 | 186639706 | TA | T |
c.3642+15del
|
-
|
2.5 |
|
B | ||
| 7058 | chr4 | 186663520 | G | A |
c.3359C>T
|
p.Ser1120Leu
|
- | 3.0 |
|
B | |
| 25249 | chr4 | 186663535 | C | G |
c.3344G>C
|
p.Gly1115Ala
|
- | 3.0 |
|
B | |
| 16719 | chr4 | 186706595 | C | T |
c.3233G>A
|
p.Gly1078Asp
|
- | 3.0 |
|
B | |
| 25049 | chr4 | 186706613 | G | A |
c.3215C>T
|
p.Ser1072Phe
|
- | 3.0 |
|
B | |
| 16968 | chr4 | 186707066 | T | G |
c.2762A>C
|
p.Asn921Thr
|
- | 3.0 |
|
B | |
| 9061 | chr4 | 186707186 | C | T |
c.2642G>A
|
p.Arg881His
|
3.0 |
|
B | ||
| 16081 | chr4 | 186707343 | C | CA |
c.2484dup
|
p.Val829CysfsTer5
|
- | 4.0 |
|
B | |
| 24445 | chr4 | 186707411 | C | G |
c.2417G>C
|
p.Arg806Pro
|
- | 3.0 |
|
B | |
| 9764 | chr4 | 186707699 | T | C |
c.2129A>G
|
p.Asn710Ser
|
3.0 |
|
B | ||
| 1748 | chr4 | 186707739 | C | T |
c.2089G>A
|
p.Gly697Arg
|
- | 3.0 |
|
B | |
| 9126 | chr4 | 186707770 | C | A |
c.2058G>T
|
p.Lys686Asn
|
- | 3.0 |
|
B | |
| 5688 | chr4 | 186708129 | G | A |
c.1699C>T
|
p.Pro567Ser
|
3.0 |
|
B |