Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20488 | chr5 | 138904348 | G | A |
c.1297-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 22729 | chr5 | 138904374 | C | G |
c.1322C>G
|
p.Ser441Ter
|
- | 3.5 |
|
B | |
| 11877 | chr5 | 138917817 | G | A |
c.1465G>A
|
p.Glu489Lys
|
- | 3.0 |
|
B | |
| 13353 | chr5 | 138917916 | C | T |
c.1546+18C>T
|
-
|
- | 2.0 |
|
B | |
| 16423 | chr5 | 138924526 | AGATGTGAACAAATGTGTCATT | A |
c.1565_1585del
|
p.Asp522_Ile528del
|
- | 3.0 |
|
B | |
| 561 | chr5 | 138924620 | A | G |
c.1657A>G
|
p.Ile553Val
|
3.0 |
|
B | ||
| 8371 | chr5 | 138924639 | A | T |
c.1676A>T
|
p.Glu559Val
|
- | 3.0 |
|
B | |
| 9233 | chr5 | 138925321 | C | T |
c.1813C>T
|
p.Pro605Ser
|
3.0 |
|
B | ||
| 11532 | chr5 | 138929278 | G | C |
c.1932G>C
|
p.Glu644Asp
|
- | 3.0 |
|
B | |
| 23156 | chr5 | 138929327 | GA | G |
c.1982del
|
p.Asp661ValfsTer3
|
- | 3.5 |
|
B | |
| 35133 | chr5 | 138930539 | GAAGAA | G |
c.2082_2086del
|
p.Lys695GlnfsTer5
|
- | 4.5 |
|
B | |
| 21855 | chr5 | 138930560 | GCTGAAGTGTC | G |
c.2100_2109del
|
p.Glu701AsnfsTer18
|
- | 3.5 |
|
B | |
| 6324 | chr5 | 138930838 | G | C |
c.2201G>C
|
p.Gly734Ala
|
- | 3.0 |
|
B | |
| 13214 | chr5 | 138930892 | C | T |
c.2255C>T
|
p.Ala752Val
|
3.0 |
|
B | ||
| 2713 | chr5 | 138932604 | C | A |
c.2325C>A
|
p.Asp775Glu
|
3.0 |
|
B | ||
| 8405 | chr5 | 138932629 | G | A |
c.2350G>A
|
p.Ala784Thr
|
3.0 |
|
B | ||
| 10196 | chr5 | 138932641 | CACCAGCTGA | C |
c.2365_2373del
|
p.Gln789_Asn791del
|
- | 3.0 |
|
B | |
| 31430 | chr5 | 138932692 | G | A |
c.2413G>A
|
p.Gly805Arg
|
3.0 |
|
B | ||
| 30236 | chr5 | 138932721 | T | C |
c.2433+9T>C
|
-
|
- | 3.0 |
|
B | |
| 23554 | chr5 | 138934028 | A | C |
c.2660A>C
|
p.Gln887Pro
|
- | 3.0 |
|
B |