Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28251 | chr11 | 57661057 | G | A |
c.899G>A
|
p.Arg300His
|
3.0 |
|
B | ||
| 23125 | chr11 | 57661404 | A | C |
c.1246A>C
|
p.Ile416Leu
|
- | 3.0 |
|
B | |
| 22200 | chr11 | 57795674 | C | T |
c.365C>T
|
p.Ser122Phe
|
- | 3.0 |
|
B | |
| 13739 | chr11 | 57796450 | C | T |
c.421-7C>T
|
-
|
- | 3.0 |
|
B | |
| 29364 | chr11 | 57796494 | TACAGCCAGTCGCTATGGGACCAGACGGGTTGCC | T |
c.459_491del
|
p.Gln154_Pro164del
|
- | 3.0 |
|
B | |
| 17104 | chr11 | 57796597 | T | TG |
c.566dup
|
p.Pro190ThrfsTer15
|
- | 3.0 |
|
B | |
| 3250 | chr11 | 57796602 | G | A |
c.566G>A
|
p.Gly189Glu
|
3.0 |
|
B | ||
| 1216 | chr11 | 57796616 | GTGGGGCAAGCTGGCAC | G |
c.583_598del
|
p.Gly195LeufsTer35
|
- | 3.0 |
|
B | |
| 17881 | chr11 | 57796751 | G | T |
c.715G>T
|
p.Glu239Ter
|
- | 3.0 |
|
B | |
| 17974 | chr11 | 57796827 | G | A |
c.791G>A
|
p.Arg264Gln
|
- | 3.0 |
|
B | |
| 7242 | chr11 | 57801728 | C | A |
c.957-5C>A
|
-
|
- | 3.0 |
|
B | |
| 7949 | chr11 | 57801781 | C | A |
c.1005C>A
|
p.Tyr335Ter
|
- | 3.0 |
|
B | |
| 16782 | chr11 | 57801827 | G | A |
c.1051G>A
|
p.Asp351Asn
|
3.0 |
|
B | ||
| 25438 | chr11 | 57801845 | G | GGGCC |
c.1070_1073dup
|
p.Pro359AlafsTer5
|
- | 3.5 |
|
B | |
| 21654 | chr11 | 57801875 | G | C |
c.1099G>C
|
p.Glu367Gln
|
- | 3.0 |
|
B | |
| 32465 | chr11 | 57801907 | C | T |
c.1131C>T
|
p.Phe377=
|
- | 3.0 |
|
B | |
| 25209 | chr11 | 57801914 | G | A |
c.1138G>A
|
p.Asp380Asn
|
- | 3.0 |
|
B | |
| 31166 | chr11 | 57802052 | C | A |
c.1276C>A
|
p.Leu426Ile
|
- | 3.0 |
|
B | |
| 30699 | chr11 | 57802199 | G | A |
c.1420+3G>A
|
-
|
3.0 |
|
B | ||
| 29710 | chr11 | 57803619 | A | G |
c.1421-2A>G
|
p.?
|
- | 3.0 |
|
B |