Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18058 | chr2 | 140903081 | C | T |
c.3605G>A
|
p.Gly1202Glu
|
3.0 |
|
B | ||
| 33536 | chr2 | 140903149 | G | T |
c.3537C>A
|
p.Asn1179Lys
|
- | 3.0 |
|
B | |
| 22547 | chr2 | 140903183 | C | A |
c.3521-18G>T
|
-
|
- | 3.0 |
|
B | |
| 10110 | chr2 | 140907901 | C | A |
c.3496G>T
|
p.Gly1166Cys
|
- | 3.0 |
|
B | |
| 2518 | chr2 | 140907947 | G | T |
c.3450C>A
|
p.Cys1150Ter
|
- | 4.0 |
|
B | |
| 28681 | chr2 | 140908030 | C | T |
c.3367G>A
|
p.Glu1123Lys
|
3.0 |
|
B | ||
| 23836 | chr2 | 140922949 | A | G |
c.3319+16T>C
|
-
|
- | 3.0 |
|
B | |
| 12464 | chr2 | 140922965 | C | T |
c.3319G>A
|
p.Gly1107Arg
|
- | 3.0 |
|
B | |
| 8497 | chr2 | 140923043 | C | T |
c.3241G>A
|
p.Asp1081Asn
|
- | 3.0 |
|
B | |
| 2467 | chr2 | 140923069 | C | T |
c.3215G>A
|
p.Arg1072His
|
2.0 |
|
B | ||
| 10373 | chr2 | 140923103 | G | T |
c.3181C>A
|
p.His1061Asn
|
- | 3.0 |
|
B | |
| 1258 | chr2 | 140923120 | C | T |
c.3164G>A
|
p.Gly1055Glu
|
- | 3.0 |
|
B | |
| 23325 | chr2 | 140923164 | G | A |
c.3137-17C>T
|
-
|
- | 3.0 |
|
B | |
| 2145 | chr2 | 140950295 | C | A |
c.3076G>T
|
p.Asp1026Tyr
|
- | 3.0 |
|
B | |
| 20283 | chr2 | 140950349 | C | G |
c.3022G>C
|
p.Asp1008His
|
- | 3.0 |
|
B | |
| 133 | chr2 | 140950384 | C | T |
c.2987G>A
|
p.Gly996Glu
|
- | 3.0 |
|
B | |
| 134 | chr2 | 140950385 | C | T |
c.2986G>A
|
p.Gly996Arg
|
3.0 |
|
A | ||
| 27310 | chr2 | 140951850 | T | G |
c.2968+10A>C
|
-
|
2.0 |
|
B | ||
| 5977 | chr2 | 140951866 | C | T |
c.2962G>A
|
p.Asp988Asn
|
3.0 |
|
B | ||
| 26312 | chr2 | 140951891 | T | A |
c.2937A>T
|
p.Arg979Ser
|
3.0 |
|
B |