Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2691 | chr17 | 7674200 | T | A |
c.763A>T
|
p.Ile255Phe
|
4.0 |
|
B | ||
| 21795 | chr17 | 7674200 | TGATGGTGAG | T |
c.754_762del
|
p.Leu252_Ile254del
|
4.0 |
|
B | ||
| 20670 | chr17 | 7674202 | A | T |
c.761T>A
|
p.Ile254Asn
|
3.5 |
|
B | ||
| 7918 | chr17 | 7674203 | TG | T |
c.759del
|
p.Ile254SerfsTer91
|
4.5 |
|
B | ||
| 7698 | chr17 | 7674205 | G | GT |
c.757dup
|
p.Thr253AsnfsTer11
|
- | 4.0 |
|
B | |
| 10859 | chr17 | 7674205 | G | GTGAGGATGGGCCTCC |
c.743_757dup
|
p.Arg248_Leu252dup
|
- | 4.0 |
|
B | |
| 526 | chr17 | 7674206 | T | C |
c.757A>G
|
p.Thr253Ala
|
3.0 |
|
B | ||
| 17833 | chr17 | 7674206 | TGAG | T |
c.754_756del
|
p.Leu252del
|
3.0 |
|
B | ||
| 1544 | chr17 | 7674208 | A | G |
c.755T>C
|
p.Leu252Pro
|
4.0 |
|
B | ||
| 17066 | chr17 | 7674208 | AGGATG | A |
c.750_754del
|
p.Ile251HisfsTer11
|
- | 4.0 |
|
B | |
| 8672 | chr17 | 7674209 | G | A |
c.754C>T
|
p.Leu252Phe
|
- | 3.5 |
|
B | |
| 9337 | chr17 | 7674211 | A | C |
c.752T>G
|
p.Ile251Ser
|
3.5 |
|
B | ||
| 2122 | chr17 | 7674214 | G | A |
c.749C>T
|
p.Pro250Leu
|
3.5 |
|
B | ||
| 30924 | chr17 | 7674214 | GGCCTCCGGTTCATGCC | G |
c.733_748del
|
p.Gly245ProfsTer95
|
- | 4.0 |
|
B | |
| 10346 | chr17 | 7674215 | G | A |
c.748C>T
|
p.Pro250Ser
|
- | 3.5 |
|
B | |
| 32667 | chr17 | 7674215 | GC | G |
c.747del
|
p.Arg249SerfsTer96
|
- | 4.5 |
|
B | |
| 10816 | chr17 | 7674216 | C | A |
c.747G>T
|
p.Arg249Ser
|
4.0 |
|
B | ||
| 4071 | chr17 | 7674216 | C | G |
c.747G>C
|
p.Arg249Ser
|
3.5 |
|
B | ||
| 6695 | chr17 | 7674217 | C | A |
c.746G>T
|
p.Arg249Met
|
4.0 |
|
B | ||
| 13497 | chr17 | 7674217 | C | G |
c.746G>C
|
p.Arg249Thr
|
3.5 |
|
B |