Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11429 | chr11 | 10760327 | T | G |
c.741+6T>G
|
-
|
- | 2.5 |
|
B | |
| 34176 | chr11 | 10764204 | ATTTTAGTAATGTT | A |
c.1284+9_1284+21del
|
-
|
- | 3.0 |
|
B | |
| 7628 | chr11 | 10766456 | C | G |
c.1652C>G
|
p.Ser551Ter
|
- | 4.0 |
|
B | |
| 3126 | chr11 | 10767990 | A | T |
c.1871A>T
|
p.Lys624Met
|
- | 3.0 |
|
B | |
| 20092 | chr11 | 10768340 | T | C |
c.1961-3T>C
|
-
|
- | 3.0 |
|
B | |
| 35119 | chr11 | 10771576 | A | G |
c.2404A>G
|
p.Lys802Glu
|
- | 3.0 |
|
B | |
| 35120 | chr11 | 10771579 | A | T |
c.2407A>T
|
p.Met803Leu
|
- | 3.0 |
|
B | |
| 16370 | chr11 | 10772502 | A | G |
c.2445-18A>G
|
-
|
3.0 |
|
B | ||
| 4580 | chr11 | 10773273 | G | A |
c.2727G>A
|
p.Arg909=
|
3.0 |
|
B | ||
| 5257 | chr11 | 10774037 | A | T |
c.2753A>T
|
p.Asp918Val
|
- | 3.0 |
|
B | |
| 10208 | chr11 | 10775262 | C | T |
c.2941C>T
|
p.Pro981Ser
|
3.0 |
|
B | ||
| 7604 | chr11 | 10778722 | G | T |
c.3139G>T
|
p.Glu1047Ter
|
- | 4.0 |
|
B | |
| 27546 | chr11 | 10778981 | A | C |
c.3398A>C
|
p.Glu1133Ala
|
- | 3.0 |
|
B | |
| 26462 | chr11 | 10779089 | C | A |
c.3506C>A
|
p.Ser1169Ter
|
- | 4.0 |
|
B | |
| 4720 | chr11 | 12327267 | G | A |
c.5515+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 24944 | chr11 | 12862249 | G | T |
c.203-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 20093 | chr11 | 12879781 | C | T |
c.404C>T
|
p.Ala135Val
|
- | 3.0 |
|
B | |
| 16780 | chr11 | 12881042 | C | T |
c.503C>T
|
p.Ser168Phe
|
- | 3.0 |
|
B | |
| 13922 | chr11 | 12882990 | T | C |
c.575-11T>C
|
-
|
- | 3.0 |
|
B | |
| 21319 | chr11 | 12924942 | G | T |
c.904G>T
|
p.Ala302Ser
|
- | 3.0 |
|
B |