Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14081 | chr19 | 32918274 | T | A |
c.1334A>T
|
p.Glu445Val
|
- | 3.0 |
|
B | |
| 26203 | chr19 | 32923434 | C | T |
c.1268+5G>A
|
-
|
- | 3.0 |
|
B | |
| 14658 | chr19 | 32923439 | C | T |
c.1268G>A
|
p.Trp423Ter
|
- | 3.0 |
|
B | |
| 31305 | chr19 | 32931461 | G | C |
c.997C>G
|
p.Gln333Glu
|
- | 3.0 |
|
B | |
| 14657 | chr19 | 32939894 | G | A |
c.596-9C>T
|
-
|
- | 3.0 |
|
B | |
| 19791 | chr19 | 32948281 | G | A |
c.580C>T
|
p.Arg194Trp
|
1.0 |
|
B | ||
| 32176 | chr19 | 32953650 | T | C |
c.457A>G
|
p.Ser153Gly
|
2.0 |
|
B | ||
| 26160 | chr19 | 32953785 | C | T |
c.322G>A
|
p.Glu108Lys
|
- | 3.0 |
|
B | |
| 17898 | chr19 | 32959973 | C | G |
c.232G>C
|
p.Glu78Gln
|
3.0 |
|
B | ||
| 17989 | chr19 | 32971626 | T | C |
c.39+210A>G
-
|
-
-
|
3.0 |
|
B | ||
| 35283 | chr19 | 32971864 | C | G |
c.11G>C
-
|
p.Gly4Ala
-
|
3.0 |
|
B | ||
| 31704 | chr19 | 32973275 | G | A |
-
c.79G>A
|
-
p.Gly27Arg
|
3.0 |
|
B | ||
| 21872 | chr19 | 33301339 | C | G |
c.1076G>C
|
p.Ter359SerextTer36
|
- | 3.0 |
|
B | |
| 15444 | chr19 | 33301355 | T | C |
c.1060A>G
|
p.Met354Val
|
3.0 |
|
B | ||
| 11151 | chr19 | 33301848 | GGGC | G |
c.564_566del
|
p.Pro189del
|
2.0 |
|
B | ||
| 16456 | chr19 | 33302151 | CTGCTGCCGGCTG | C |
c.252_263del
|
p.His84_Gln87del
|
- | 3.0 |
|
B | |
| 5345 | chr19 | 33302204 | C | A |
c.211G>T
|
p.Ala71Ser
|
- | 3.0 |
|
B | |
| 6424 | chr19 | 33302420 | A | T |
c.-6T>A
|
-
|
- | 3.0 |
|
B | |
| 9930 | chr19 | 33302434 | C | A |
c.-20G>T
|
-
|
3.0 |
|
B | ||
| 16457 | chr19 | 33302460 | AGCCTGCGCGGGGCGTCGCCGCC | A |
c.-68_-47del
|
-
|
- | 3.5 |
|
B |