Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17645 | chr11 | 64370261 | G | A |
c.1834G>A
|
p.Ala612Thr
|
- | 3.0 |
|
B | |
| 14212 | chr11 | 64370328 | C | T |
c.1901C>T
|
p.Ser634Phe
|
3.0 |
|
B | ||
| 9744 | chr11 | 64370610 | C | T |
c.2005C>T
|
p.Arg669Trp
|
3.0 |
|
B | ||
| 5516 | chr11 | 64370653 | C | T |
c.2048C>T
|
p.Pro683Leu
|
- | 3.0 |
|
B | |
| 10769 | chr11 | 64371461 | GC | G |
c.2305del
|
p.Leu769CysfsTer15
|
- | 3.0 |
|
B | |
| 33628 | chr11 | 64798784 | C | G |
c.1097+10G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 6464 | chr11 | 64804495 | T | C |
-
c.1672A>G
|
-
p.Met558Val
|
- | 3.0 |
|
B | |
| 6463 | chr11 | 64804499 | CTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGAT | C |
-
c.1626_1667del
|
-
p.Ser543_Glu556del
|
- | 3.0 |
|
B | |
| 27391 | chr11 | 64804620 | C | CG |
-
c.1546dup
|
-
p.Arg516ProfsTer15
|
4.5 |
|
B | ||
| 423 | chr11 | 64804620 | CG | C |
-
c.1546del
|
-
p.Arg516GlyfsTer43
|
4.67 |
|
A | ||
| 4145 | chr11 | 64805111 | C | T |
-
c.1273G>A
|
-
p.Glu425Lys
|
- | 3.0 |
|
B | |
| 6547 | chr11 | 64805114 | C | T |
-
c.1270G>A
|
-
p.Glu424Lys
|
3.0 |
|
B | ||
| 33700 | chr11 | 64805115 | C | T |
-
c.1269G>A
|
-
p.Trp423Ter
|
4.0 |
|
B | ||
| 424 | chr11 | 64805141 | G | A |
-
c.1243C>T
|
-
p.Arg415Ter
|
5.0 |
|
B | ||
| 28214 | chr11 | 64805171 | G | A |
-
c.1213C>T
|
-
p.Gln405Ter
|
4.0 |
|
B | ||
| 18945 | chr11 | 64805631 | T | TGTCCAGCCTCC |
-
c.1185+3_1185+4insGGAGGCTGGAC
|
-
-
|
- | 3.0 |
|
B | |
| 18357 | chr11 | 64805674 | CA | C |
-
c.1145del
|
-
p.Leu382CysfsTer63
|
- | 4.0 |
|
B | |
| 425 | chr11 | 64805758 | G | T |
-
c.1062C>A
|
-
p.Cys354Ter
|
4.67 |
|
A | ||
| 11362 | chr11 | 64805939 | AG | A |
-
c.1050-170del
|
-
-
|
- | 3.5 |
|
B | |
| 17883 | chr11 | 64805968 | C | T |
-
c.1050-198G>A
|
-
-
|
- | 4.0 |
|
B |