Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20240 | chr9 | 99828333 | T | TCAC |
c.318_320dup
|
p.His108dup
|
3.0 |
|
B | ||
| 18472 | chr9 | 99828350 | A | C |
c.308A>C
|
p.His103Pro
|
- | 3.0 |
|
B | |
| 16557 | chr9 | 99828428 | C | G |
c.386C>G
|
p.Pro129Arg
|
- | 3.0 |
|
B | |
| 29560 | chr9 | 99828547 | C | A |
c.505C>A
|
p.Pro169Thr
|
- | 3.0 |
|
B | |
| 26429 | chr9 | 99828595 | G | C |
c.553G>C
|
p.Gly185Arg
|
3.0 |
|
B | ||
| 12786 | chr9 | 99828902 | C | T |
c.860C>T
|
p.Ser287Phe
|
3.0 |
|
B | ||
| 20362 | chr9 | 99829000 | G | A |
c.951+7G>A
|
-
|
- | 3.0 |
|
B | |
| 33949 | chr9 | 99844742 | A | T |
c.1348A>T
|
p.Ser450Cys
|
- | 3.0 |
|
B | |
| 16154 | chr9 | 99863844 | T | G |
c.1858T>G
|
p.Phe620Val
|
- | 3.0 |
|
B | |
| 34608 | chr9 | 99863866 | AAT | A |
c.1881_*1del
|
p.Ter627TyrfsTer13
|
- | 3.0 |
|
B | |
| 2604 | chr9 | 104536446 | G | A |
c.278C>T
|
p.Ser93Phe
|
3.0 |
|
B | ||
| 4703 | chr9 | 105721584 | C | T |
c.317C>T
|
p.Ser106Leu
|
- | 3.0 |
|
B | |
| 8525 | chr9 | 107485786 | C | T |
c.1405G>A
|
p.Asp469Asn
|
- | 3.0 |
|
B | |
| 14603 | chr9 | 107485788 | G | A |
c.1403C>T
|
p.Ser468Leu
|
3.0 |
|
B | ||
| 20363 | chr9 | 107485941 | GA | G |
c.1265-16del
|
-
|
3.0 |
|
B | ||
| 9183 | chr9 | 107487053 | G | A |
c.1239C>T
|
p.Leu413=
|
- | 3.0 |
|
B | |
| 3024 | chr9 | 107487067 | T | G |
c.1225A>C
|
p.Lys409Gln
|
- | 4.0 |
|
B | |
| 32800 | chr9 | 107487141 | C | T |
c.1151G>A
|
p.Gly384Glu
|
- | 3.0 |
|
B | |
| 8526 | chr9 | 107487146 | C | G |
c.1146G>C
|
p.Lys382Asn
|
- | 3.0 |
|
B | |
| 8527 | chr9 | 107487295 | C | G |
c.1099G>C
|
p.Glu367Gln
|
- | 3.0 |
|
B |