Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28535 | chr7 | 518997 | C | T |
c.5G>A
|
p.Arg2Lys
|
3.0 |
|
B | ||
| 5179 | chr7 | 770483 | G | A |
c.1796G>A
|
p.Gly599Glu
|
2.5 |
|
B | ||
| 31469 | chr7 | 1476268 | G | A |
c.5339C>T
|
p.Thr1780Met
|
3.0 |
|
B | ||
| 2614 | chr7 | 1540004 | G | A |
-
c.100G>A
|
-
p.Val34Met
|
- | 3.0 |
|
B | |
| 32493 | chr7 | 2242167 | C | T |
c.3G>A
-
|
p.Met1?
-
|
3.0 |
|
B | ||
| 22738 | chr7 | 2249997 | G | A |
-
c.293G>A
|
-
p.Ser98Asn
|
3.0 |
|
B | ||
| 26871 | chr7 | 2250904 | C | T |
-
c.374C>T
|
-
p.Pro125Leu
|
- | 3.0 |
|
B | |
| 23135 | chr7 | 2906706 | G | A |
c.3397C>T
|
p.Arg1133Cys
|
3.0 |
|
B | ||
| 21386 | chr7 | 2910153 | G | T |
c.3157C>A
|
p.Leu1053Met
|
- | 3.0 |
|
B | |
| 12117 | chr7 | 2912172 | C | T |
c.3144G>A
|
p.Lys1048=
|
3.0 |
|
B | ||
| 5939 | chr7 | 2912177 | C | T |
c.3139G>A
|
p.Ala1047Thr
|
2.5 |
|
B | ||
| 2941 | chr7 | 2912179 | G | A |
c.3137C>T
|
p.Ala1046Val
|
3.0 |
|
B | ||
| 33648 | chr7 | 2912189 | C | T |
c.3127G>A
|
p.Glu1043Lys
|
3.0 |
|
B | ||
| 12728 | chr7 | 2912221 | T | C |
c.3095A>G
|
p.Asn1032Ser
|
3.0 |
|
B | ||
| 6607 | chr7 | 2912239 | G | A |
c.3077C>T
|
p.Ser1026Phe
|
- | 3.0 |
|
B | |
| 8219 | chr7 | 2912291 | C | T |
c.3025G>A
|
p.Val1009Ile
|
2.5 |
|
B | ||
| 17918 | chr7 | 2915223 | C | T |
c.2839+14G>A
|
-
|
3.0 |
|
B | ||
| 32886 | chr7 | 2915258 | G | A |
c.2818C>T
|
p.Leu940Phe
|
- | 3.0 |
|
B | |
| 9400 | chr7 | 2915335 | T | A |
c.2741A>T
|
p.Asn914Ile
|
- | 3.0 |
|
B | |
| 15996 | chr7 | 2915382 | A | G |
c.2704-10T>C
|
-
|
- | 2.0 |
|
B |