Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 148 | chr2 | 208248389 | G | C |
c.394C>G
|
p.Arg132Gly
|
4.67 |
|
A | ||
| 29 | chr2 | 208248389 | G | T |
c.394C>A
|
p.Arg132Ser
|
4.67 |
|
A | ||
| 34 | chr2 | 208248572 | C | T |
c.211G>A
|
p.Val71Ile
|
1.0 |
|
B | ||
| 30084 | chr2 | 208248617 | C | T |
c.166G>A
|
p.Val56Ile
|
- | 3.0 |
|
B | |
| 30474 | chr2 | 208251455 | G | A |
c.97C>T
|
p.Pro33Ser
|
3.0 |
|
B | ||
| 33 | chr2 | 208251458 | A | C |
c.94T>G
|
p.Phe32Val
|
3.0 |
|
B | ||
| 736 | chr2 | 210315041 | AT | A |
c.1del
|
p.Met1?
|
1.5 |
|
B | ||
| 20210 | chr2 | 210315041 | ATT | A |
c.-1_1del
|
p.Met1=
|
3.0 |
|
B | ||
| 4054 | chr2 | 210612181 | C | T |
c.2456C>T
|
p.Ser819Phe
|
- | 3.0 |
|
B | |
| 29493 | chr2 | 211383644 | G | T |
c.3898C>A
|
p.Pro1300Thr
|
- | 3.0 |
|
B | |
| 14536 | chr2 | 211383787 | G | C |
c.3755C>G
|
p.Thr1252Ser
|
- | 3.0 |
|
B | |
| 8927 | chr2 | 211383813 | C | A |
c.3729G>T
|
p.Trp1243Cys
|
- | 3.0 |
|
B | |
| 25662 | chr2 | 211383874 | T | C |
c.3668A>G
|
p.Lys1223Arg
|
3.0 |
|
B | ||
| 1293 | chr2 | 211383955 | G | A |
c.3587C>T
|
p.Pro1196Leu
|
- | 3.0 |
|
B | |
| 27864 | chr2 | 211383983 | C | T |
c.3559G>A
|
p.Glu1187Lys
|
3.0 |
|
B | ||
| 29152 | chr2 | 211384000 | T | A |
c.3542A>T
|
p.Gln1181Leu
|
- | 3.0 |
|
B | |
| 14088 | chr2 | 211384007 | C | T |
c.3535G>A
|
p.Asp1179Asn
|
3.0 |
|
B | ||
| 11909 | chr2 | 211384062 | T | A |
c.3482-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 24802 | chr2 | 211386838 | A | G |
c.3481+15T>C
|
-
|
- | 3.0 |
|
B | |
| 29582 | chr2 | 211386848 | C | T |
c.3481+5G>A
|
-
|
3.0 |
|
B |