Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22786 | chr19 | 7142903 | G | A |
c.2455C>T
|
p.Arg819Cys
|
- | 3.0 |
|
B | |
| 27368 | chr19 | 7143004 | G | A |
c.2354C>T
|
p.Ser785Leu
|
2.5 |
|
B | ||
| 26009 | chr19 | 7152728 | G | C |
c.2229C>G
|
p.Pro743=
|
- | 3.0 |
|
B | |
| 15215 | chr19 | 7152807 | G | C |
c.2150C>G
|
p.Ser717Cys
|
- | 3.0 |
|
B | |
| 7504 | chr19 | 7163207 | G | A |
c.1862-8C>T
|
-
|
- | 3.0 |
|
B | |
| 17597 | chr19 | 7163215 | G | A |
c.1862-16C>T
|
-
|
3.0 |
|
B | ||
| 4258 | chr19 | 7166255 | G | A |
c.1760C>T
|
p.Thr587Ile
|
- | 3.0 |
|
B | |
| 11078 | chr19 | 7166271 | C | A |
c.1744G>T
|
p.Gly582Cys
|
- | 3.0 |
|
B | |
| 10283 | chr19 | 7170567 | C | T |
c.1453G>A
|
p.Ala485Thr
|
- | 3.0 |
|
B | |
| 24174 | chr19 | 7170737 | T | C |
c.1283A>G
|
p.Tyr428Cys
|
- | 3.0 |
|
B | |
| 10799 | chr19 | 7170757 | G | A |
c.1269-6C>T
|
-
|
3.0 |
|
B | ||
| 33545 | chr19 | 7170757 | G | GA |
c.1269-7dup
|
-
|
3.0 |
|
B | ||
| 10661 | chr19 | 7172312 | G | A |
c.1246C>T
|
p.Arg416Ter
|
3.0 |
|
B | ||
| 18817 | chr19 | 7172420 | C | T |
c.1138G>A
|
p.Glu380Lys
|
- | 3.0 |
|
B | |
| 14229 | chr19 | 7174592 | G | A |
c.1114C>T
|
p.Arg372Ter
|
3.0 |
|
B | ||
| 14661 | chr19 | 7184470 | G | A |
c.820C>T
|
p.His274Tyr
|
- | 3.0 |
|
B | |
| 12028 | chr19 | 7267328 | C | T |
c.652+17G>A
|
-
|
3.0 |
|
B | ||
| 9653 | chr19 | 7267384 | A | G |
c.613T>C
|
p.Phe205Leu
|
3.0 |
|
B | ||
| 33029 | chr19 | 7267553 | C | G |
c.444G>C
|
p.Lys148Asn
|
- | 3.0 |
|
B | |
| 15472 | chr19 | 7267758 | T | C |
c.239A>G
|
p.Lys80Arg
|
3.0 |
|
B |