Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34405 | chr8 | 94189246 | GGGGTCCACTAAACTTCCCCT | G |
c.71_90del
|
p.Glu24AlafsTer10
|
- | 3.5 |
|
B | |
| 30136 | chr8 | 94378582 | C | T |
c.2300G>A
|
p.Arg767Lys
|
- | 3.0 |
|
B | |
| 31626 | chr8 | 94380260 | G | C |
c.2132C>G
|
p.Ser711Cys
|
3.0 |
|
B | ||
| 21400 | chr8 | 94391851 | T | A |
c.1567A>T
|
p.Thr523Ser
|
- | 3.0 |
|
B | |
| 21819 | chr8 | 94404250 | G | A |
c.782-11C>T
|
-
|
- | 3.0 |
|
B | |
| 25905 | chr8 | 94411317 | T | TGCTCCTTTG |
c.305-3_305-2insCAAAGGAGC
|
-
|
- | 3.0 |
|
B | |
| 32321 | chr8 | 94411323 | T | TA |
c.305-9dup
|
-
|
3.0 |
|
B | ||
| 19535 | chr8 | 94411323 | TA | T |
c.305-9del
|
-
|
2.0 |
|
B | ||
| 35389 | chr8 | 94432670 | A | G |
c.305-21355T>C
c.375-14T>C
|
-
-
|
- | 3.0 |
|
B | |
| 19536 | chr8 | 94467390 | C | CT |
c.135+14dup
|
-
|
3.0 |
|
B | ||
| 20042 | chr8 | 94674382 | TA | T |
c.1535del
|
p.Asn512ThrfsTer2
|
3.0 |
|
B | ||
| 34603 | chr8 | 99891996 | G | A |
c.26C>T
|
p.Pro9Leu
|
- | 3.0 |
|
B | |
| 2496 | chr8 | 100704308 | G | T |
c.1901C>A
|
p.Pro634Gln
|
- | 3.0 |
|
B | |
| 27949 | chr8 | 100704930 | G | T |
c.1814C>A
|
p.Ser605Tyr
|
3.0 |
|
B | ||
| 33047 | chr8 | 100704933 | C | CGGAGTGACTCTG |
c.1799_1810dup
|
p.Pro600_Leu603dup
|
- | 3.0 |
|
B | |
| 23246 | chr8 | 100704954 | A | G |
c.1790T>C
|
p.Leu597Pro
|
3.0 |
|
B | ||
| 7736 | chr8 | 100704961 | G | T |
c.1783C>A
|
p.His595Asn
|
- | 3.0 |
|
B | |
| 23247 | chr8 | 100705027 | T | A |
c.1717A>T
|
p.Met573Leu
|
3.0 |
|
B | ||
| 34090 | chr8 | 100705039 | G | A |
c.1705C>T
|
p.Leu569Phe
|
3.0 |
|
B | ||
| 13760 | chr8 | 100705051 | G | A |
c.1693C>T
|
p.Arg565Trp
|
3.0 |
|
B |