Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10797 | chr7 | 2937027 | C | T |
c.1341+10G>A
|
-
|
- | 3.0 |
|
B | |
| 7110 | chr7 | 2937030 | G | A |
c.1341+7C>T
|
-
|
3.0 |
|
B | ||
| 20024 | chr7 | 2937069 | G | A |
c.1309C>T
|
p.Arg437Cys
|
- | 3.0 |
|
B | |
| 2199 | chr7 | 2937111 | G | A |
c.1267C>T
|
p.Arg423Trp
|
3.0 |
|
B | ||
| 6003 | chr7 | 2937114 | C | T |
c.1264G>A
|
p.Val422Met
|
3.0 |
|
B | ||
| 33889 | chr7 | 2937140 | T | G |
c.1238A>C
|
p.Lys413Thr
|
- | 3.0 |
|
B | |
| 5008 | chr7 | 2937144 | C | T |
c.1234G>A
|
p.Glu412Lys
|
- | 3.0 |
|
B | |
| 22158 | chr7 | 2937254 | C | T |
c.1144-20G>A
|
-
|
2.0 |
|
B | ||
| 27450 | chr7 | 2937955 | C | T |
c.1095G>A
|
p.Met365Ile
|
- | 3.0 |
|
B | |
| 9424 | chr7 | 2937960 | G | A |
c.1090C>T
|
p.Arg364Cys
|
3.0 |
|
B | ||
| 34362 | chr7 | 2937982 | C | A |
c.1068G>T
|
p.Lys356Asn
|
- | 3.0 |
|
B | |
| 9377 | chr7 | 2938037 | GA | G |
c.1018-6del
|
-
|
- | 3.0 |
|
B | |
| 12170 | chr7 | 2938664 | G | A |
c.1017+15C>T
|
-
|
2.5 |
|
B | ||
| 31358 | chr7 | 2938683 | T | A |
c.1013A>T
|
p.Asp338Val
|
- | 3.0 |
|
B | |
| 5654 | chr7 | 2938704 | C | A |
c.992G>T
|
p.Arg331Leu
|
- | 3.0 |
|
B | |
| 1504 | chr7 | 2939793 | C | G |
c.820G>C
|
p.Glu274Gln
|
- | 3.0 |
|
B | |
| 30603 | chr7 | 2939868 | G | A |
c.745C>T
|
p.Gln249Ter
|
- | 3.0 |
|
B | |
| 27468 | chr7 | 2944256 | C | T |
c.640G>A
|
p.Glu214Lys
|
- | 3.0 |
|
B | |
| 22991 | chr7 | 2944262 | T | G |
c.634A>C
|
p.Ser212Arg
|
- | 3.0 |
|
B | |
| 7083 | chr7 | 2944319 | C | T |
c.577G>A
|
p.Glu193Lys
|
- | 3.0 |
|
B |