Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24155 | chr19 | 49669061 | A | T |
-
c.375A>T
|
-
p.Ile125=
|
- | 3.0 |
|
B | |
| 19800 | chr19 | 49670370 | G | A |
-
c.584G>A
|
-
p.Arg195His
|
3.0 |
|
B | ||
| 26933 | chr19 | 49861481 | G | A |
c.1416C>T
-
|
p.Ile472=
-
|
2.0 |
|
B | ||
| 32479 | chr19 | 49861649 | G | A |
c.1345C>T
-
|
p.Leu449Phe
-
|
3.0 |
|
B | ||
| 14811 | chr19 | 49862063 | C | G |
c.1169G>C
-
|
p.Gly390Ala
-
|
- | 3.0 |
|
B | |
| 20825 | chr19 | 49862205 | A | ACAACCAC |
c.1099_1105dup
-
|
p.Val369GlyfsTer44
-
|
- | 3.0 |
|
B | |
| 20179 | chr19 | 49862285 | C | T |
c.1030-4G>A
-
|
-
-
|
3.0 |
|
B | ||
| 33357 | chr19 | 49862413 | GAGAA | G |
c.983_986del
-
|
p.Phe328SerfsTer33
-
|
3.0 |
|
B | ||
| 20180 | chr19 | 49862576 | C | A |
c.898G>T
-
|
p.Gly300Trp
-
|
- | 3.0 |
|
B | |
| 31997 | chr19 | 49863985 | C | T |
c.723G>A
-
|
p.Glu241=
-
|
2.0 |
|
B | ||
| 22791 | chr19 | 49864069 | C | T |
c.639G>A
-
-
|
p.Leu213=
-
-
|
- | 3.0 |
|
B | |
| 20774 | chr19 | 49865240 | C | A |
c.385G>T
-
-
|
p.Glu129Ter
-
-
|
- | 3.5 |
|
B | |
| 24628 | chr19 | 49865356 | C | A |
c.269G>T
-
-
|
p.Gly90Val
-
-
|
- | 3.0 |
|
B | |
| 22792 | chr19 | 49865382 | C | A |
c.243G>T
-
-
|
p.Pro81=
-
-
|
- | 3.0 |
|
B | |
| 18029 | chr19 | 49865401 | C | A |
c.224G>T
-
-
|
p.Gly75Val
-
-
|
3.0 |
|
B | ||
| 22793 | chr19 | 49865410 | G | T |
c.215C>A
-
-
|
p.Ser72Ter
-
-
|
- | 3.0 |
|
B | |
| 22794 | chr19 | 49866456 | G | A |
c.152-11C>T
-
|
-
-
|
3.0 |
|
B | ||
| 35509 | chr19 | 49867119 | TGCCCG | T |
c.81_85del
-
|
p.Asp27GlufsTer30
-
|
- | 3.0 |
|
B | |
| 35510 | chr19 | 49867125 | TC | T |
c.79del
-
|
p.Asp27ThrfsTer12
-
|
- | 3.0 |
|
B | |
| 14232 | chr19 | 49867163 | G | A |
c.42C>T
-
|
p.Ser14=
-
|
2.5 |
|
B |