Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28336 | chr19 | 14516657 | C | G |
c.601G>C
|
p.Asp201His
|
3.0 |
|
B | ||
| 35501 | chr19 | 14518151 | AGCGGTCGAAGATCTCGCGCTTGCGCGGGTC | A |
c.169_198del
|
p.Asp57_Arg66del
|
- | 3.0 |
|
B | |
| 14231 | chr19 | 14518363 | G | A |
c.-14C>T
|
-
|
3.0 |
|
B | ||
| 3323 | chr19 | 14942116 | C | T |
c.628C>T
|
p.Pro210Ser
|
3.0 |
|
B | ||
| 2767 | chr19 | 15160919 | G | A |
c.6709C>T
|
p.Arg2237Trp
|
3.0 |
|
B | ||
| 18184 | chr19 | 15161020 | G | A |
c.6608C>T
|
p.Ser2203Phe
|
3.0 |
|
B | ||
| 31153 | chr19 | 15161059 | G | A |
c.6569C>T
|
p.Ala2190Val
|
2.0 |
|
B | ||
| 2577 | chr19 | 15161180 | G | A |
c.6448C>T
|
p.Arg2150Cys
|
3.0 |
|
B | ||
| 450 | chr19 | 15161260 | AG | A |
c.6367del
|
p.Glu2124ArgfsTer25
|
- | 4.29 |
|
S | |
| 13528 | chr19 | 15161305 | G | A |
c.6323C>T
|
p.Pro2108Leu
|
3.0 |
|
B | ||
| 27889 | chr19 | 15161341 | G | A |
c.6287C>T
|
p.Ser2096Leu
|
3.0 |
|
B | ||
| 2097 | chr19 | 15161389 | C | T |
c.6239G>A
|
p.Arg2080Gln
|
2.5 |
|
B | ||
| 30202 | chr19 | 15161636 | G | A |
c.5992C>T
|
p.Arg1998Cys
|
2.0 |
|
B | ||
| 17533 | chr19 | 15161690 | C | T |
c.5938G>A
|
p.Ala1980Thr
|
2.0 |
|
B | ||
| 2818 | chr19 | 15162419 | C | T |
c.5913+46G>A
|
-
|
3.0 |
|
B | ||
| 10559 | chr19 | 15162487 | T | C |
c.5891A>G
|
p.Asn1964Ser
|
- | 3.0 |
|
B | |
| 12079 | chr19 | 15165890 | G | C |
c.5564C>G
|
p.Ala1855Gly
|
- | 3.0 |
|
B | |
| 7245 | chr19 | 15165954 | G | A |
c.5500C>T
|
p.Arg1834Trp
|
3.0 |
|
B | ||
| 28970 | chr19 | 15166049 | G | GC |
c.5404dup
|
p.Ala1802GlyfsTer8
|
3.5 |
|
B | ||
| 25857 | chr19 | 15167264 | T | G |
c.5347A>C
|
p.Asn1783His
|
- | 3.0 |
|
B |