Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6650 | chr2 | 43224765 | CCGGCGCCAGCAGGTCCT | C |
c.1022_1038del
|
p.Glu341GlyfsTer127
|
3.5 |
|
B | ||
| 6747 | chr2 | 43224803 | AGCAGAGCGGCCGCAGCCGCGGCC | A |
c.978_1000del
|
p.Ala327ValfsTer139
|
- | 3.5 |
|
B | |
| 13833 | chr2 | 43224840 | A | T |
c.964T>A
|
p.Cys322Ser
|
- | 3.0 |
|
B | |
| 21074 | chr2 | 43224872 | GC | G |
c.931del
|
p.Ala311ArgfsTer150
|
- | 4.0 |
|
B | |
| 15431 | chr2 | 43224894 | A | C |
c.910T>G
|
p.Ser304Ala
|
3.0 |
|
B | ||
| 16440 | chr2 | 43224904 | GGAGCAGGACGAGGCCGAA | G |
c.882_899del
|
p.Ala296_Ser301del
|
- | 3.0 |
|
B | |
| 22827 | chr2 | 43224957 | G | A |
c.847C>T
|
p.Pro283Ser
|
3.0 |
|
B | ||
| 11610 | chr2 | 43224963 | C | G |
c.841G>C
|
p.Asp281His
|
3.0 |
|
B | ||
| 30970 | chr2 | 43225007 | C | A |
c.797G>T
|
p.Gly266Val
|
- | 3.0 |
|
B | |
| 696 | chr2 | 43225109 | T | TC |
c.694dup
|
p.Asp232GlyfsTer242
|
- | 3.5 |
|
B | |
| 6705 | chr2 | 43225120 | G | GC |
c.683dup
|
p.Ala229ArgfsTer245
|
3.5 |
|
B | ||
| 9326 | chr2 | 43225149 | C | T |
c.655G>A
|
p.Asp219Asn
|
3.0 |
|
B | ||
| 11687 | chr2 | 43225160 | ATGAAGTGGCAGCGCGGCCCATAGGGG | A |
c.618_643del
|
p.Tyr208GlnfsTer257
|
- | 3.5 |
|
B | |
| 5445 | chr2 | 43225170 | A | C |
c.634T>G
|
p.Cys212Gly
|
- | 3.0 |
|
B | |
| 14589 | chr2 | 43225223 | G | A |
c.581C>T
|
p.Thr194Ile
|
- | 3.0 |
|
B | |
| 11066 | chr2 | 43225283 | C | A |
c.521G>T
|
p.Cys174Phe
|
- | 3.0 |
|
B | |
| 31739 | chr2 | 43225303 | CGTGCCGCTCTCCTCGAA | C |
c.484_500del
|
p.Phe162ValfsTer306
|
- | 4.0 |
|
B | |
| 30676 | chr2 | 43225309 | G | GCT |
c.493_494dup
|
p.Ser165ArgfsTer23
|
- | 3.5 |
|
B | |
| 1073 | chr2 | 43225318 | G | C |
c.486C>G
|
p.Phe162Leu
|
- | 3.0 |
|
B | |
| 13046 | chr2 | 43225320 | A | AGGGCCG |
c.478_483dup
|
p.Arg160_Pro161dup
|
- | 3.0 |
|
B |