Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27805 | chr8 | 138132814 | G | C |
c.4016-16C>G
|
-
|
- | 3.0 |
|
B | |
| 16153 | chr8 | 138132816 | A | C |
c.4016-18T>G
|
-
|
- | 3.0 |
|
B | |
| 31912 | chr8 | 138137261 | C | A |
c.3902-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 34842 | chr8 | 138138974 | G | A |
c.3901+12C>T
|
-
|
- | 3.0 |
|
B | |
| 32576 | chr8 | 138139080 | C | CT |
c.3806dup
|
p.Lys1270GlufsTer16
|
- | 3.0 |
|
B | |
| 31689 | chr8 | 138141223 | G | T |
c.3765C>A
|
p.Tyr1255Ter
|
- | 3.0 |
|
B | |
| 29640 | chr8 | 138141233 | C | T |
c.3755G>A
|
p.Gly1252Glu
|
- | 3.0 |
|
B | |
| 35600 | chr8 | 138141236 | A | T |
c.3752T>A
|
p.Leu1251Gln
|
- | 3.0 |
|
B | |
| 25158 | chr8 | 138141311 | G | A |
c.3677C>T
|
p.Ser1226Leu
|
3.0 |
|
B | ||
| 17985 | chr8 | 138143082 | T | C |
c.3568A>G
|
p.Met1190Val
|
3.0 |
|
B | ||
| 23946 | chr8 | 138148572 | T | A |
c.3396A>T
|
p.Glu1132Asp
|
- | 3.0 |
|
B | |
| 22892 | chr8 | 138148574 | C | T |
c.3394G>A
|
p.Glu1132Lys
|
3.0 |
|
B | ||
| 35534 | chr8 | 138148589 | G | A |
c.3379C>T
|
p.Pro1127Ser
|
- | 3.0 |
|
B | |
| 26096 | chr8 | 138148679 | G | A |
c.3289C>T
|
p.Gln1097Ter
|
- | 3.0 |
|
B | |
| 32864 | chr8 | 138151266 | G | A |
c.3209C>T
|
p.Pro1070Leu
|
- | 3.0 |
|
B | |
| 30332 | chr8 | 138151268 | C | A |
c.3207G>T
|
p.Gln1069His
|
- | 3.0 |
|
B | |
| 29266 | chr8 | 138151282 | G | A |
c.3193C>T
|
p.Pro1065Ser
|
- | 3.0 |
|
B | |
| 21403 | chr8 | 138151313 | C | A |
c.3162G>T
|
p.Arg1054Ser
|
- | 3.0 |
|
B | |
| 27647 | chr8 | 138151500 | G | A |
c.2975C>T
|
p.Ser992Phe
|
- | 3.0 |
|
B | |
| 28433 | chr8 | 138151543 | C | A |
c.2932G>T
|
p.Ala978Ser
|
- | 3.0 |
|
B |