Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8851 | chr11 | 72005335 | A | C |
c.5727T>G
-
|
p.Asp1909Glu
-
|
3.0 |
|
B | ||
| 9335 | chr11 | 72005362 | G | T |
c.5700C>A
-
|
p.Asn1900Lys
-
|
3.0 |
|
B | ||
| 4581 | chr11 | 72005364 | T | G |
c.5698A>C
-
|
p.Asn1900His
-
|
- | 3.0 |
|
B | |
| 6846 | chr11 | 72007279 | G | C |
c.5373C>G
-
|
p.Asp1791Glu
-
|
- | 3.0 |
|
B | |
| 5627 | chr11 | 72009125 | GCTC | G |
c.4897_4899del
|
p.Glu1633del
|
- | 3.0 |
|
B | |
| 34239 | chr11 | 72009371 | C | T |
c.4736G>A
|
p.Gly1579Glu
|
- | 3.0 |
|
B | |
| 14698 | chr11 | 72009400 | G | A |
c.4720-13C>T
|
-
|
3.0 |
|
B | ||
| 35125 | chr11 | 72013101 | C | T |
c.4402G>A
|
p.Glu1468Lys
|
- | 3.0 |
|
B | |
| 10641 | chr11 | 72013153 | C | G |
c.4350G>C
|
p.Glu1450Asp
|
- | 3.0 |
|
B | |
| 29879 | chr11 | 72013183 | C | T |
c.4320G>A
|
p.Leu1440=
|
- | 3.0 |
|
B | |
| 15747 | chr11 | 72013532 | T | C |
c.3971A>G
|
p.Glu1324Gly
|
- | 3.0 |
|
B | |
| 31184 | chr11 | 72013804 | C | A |
c.3699G>T
|
p.Glu1233Asp
|
- | 3.0 |
|
B | |
| 26717 | chr11 | 72014190 | A | G |
c.3313T>C
|
p.Ser1105Pro
|
2.0 |
|
B | ||
| 22907 | chr11 | 72014262 | C | T |
c.3241G>A
|
p.Glu1081Lys
|
- | 3.0 |
|
B | |
| 5881 | chr11 | 72014292 | C | T |
c.3211G>A
|
p.Gly1071Ser
|
3.0 |
|
B | ||
| 9345 | chr11 | 72014425 | G | A |
c.3078C>T
|
p.Ala1026=
|
3.0 |
|
B | ||
| 9346 | chr11 | 72014426 | G | A |
c.3077C>T
|
p.Ala1026Val
|
- | 3.0 |
|
B | |
| 28865 | chr11 | 72014430 | C | G |
c.3073G>C
|
p.Ala1025Pro
|
- | 3.0 |
|
B | |
| 29711 | chr11 | 72014452 | C | A |
c.3051G>T
|
p.Gln1017His
|
- | 3.0 |
|
B | |
| 34973 | chr11 | 72014483 | G | A |
c.3020C>T
|
p.Ala1007Val
|
3.0 |
|
B |