Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21139 | chr17 | 31230271 | T | A |
c.3002T>A
|
p.Val1001Glu
|
3.0 |
|
B | ||
| 29060 | chr17 | 31230311 | A | T |
c.3042A>T
|
p.Lys1014Asn
|
- | 3.0 |
|
B | |
| 33322 | chr17 | 31230312 | CTG | C |
c.3047_3048del
|
p.Cys1016SerfsTer4
|
4.5 |
|
B | ||
| 15020 | chr17 | 31230323 | AG | A |
c.3055del
|
p.Val1019LeufsTer3
|
- | 4.0 |
|
B | |
| 15021 | chr17 | 31230325 | T | A |
c.3056T>A
|
p.Val1019Asp
|
- | 3.0 |
|
B | |
| 2395 | chr17 | 31230366 | C | T |
c.3097C>T
|
p.Gln1033Ter
|
4.5 |
|
B | ||
| 26245 | chr17 | 31230873 | G | GT |
c.3147dup
|
p.Met1050TyrfsTer10
|
- | 4.0 |
|
B | |
| 29571 | chr17 | 31230893 | A | T |
c.3165A>T
|
p.Gln1055His
|
- | 3.0 |
|
B | |
| 27934 | chr17 | 31232083 | C | T |
c.3208C>T
|
p.Gln1070Ter
|
4.5 |
|
B | ||
| 27495 | chr17 | 31232170 | A | T |
c.3295A>T
|
p.Lys1099Ter
|
- | 4.0 |
|
B | |
| 15022 | chr17 | 31232188 | A | T |
c.3313A>T
|
p.Lys1105Ter
|
4.0 |
|
B | ||
| 2766 | chr17 | 31232736 | C | A |
c.3351C>A
|
p.Cys1117Ter
|
- | 4.0 |
|
B | |
| 24718 | chr17 | 31232821 | G | C |
c.3436G>C
|
p.Val1146Leu
|
3.0 |
|
B | ||
| 6575 | chr17 | 31232886 | G | C |
c.3496+5G>C
|
-
|
3.5 |
|
B | ||
| 1135 | chr17 | 31233014 | A | ACAAGGAT |
c.3511_3517dup
|
p.Leu1173GlnfsTer24
|
- | 4.0 |
|
B | |
| 30428 | chr17 | 31233037 | A | ACATTTATGGAAGTTCTGACAAAAATCCTT |
c.3535_3563dup
|
p.Gln1188HisfsTer6
|
- | 4.0 |
|
B | |
| 7713 | chr17 | 31233066 | TCAA | T |
c.3565_3567del
|
p.Gln1189del
|
- | 3.0 |
|
B | |
| 33514 | chr17 | 31233116 | G | A |
c.3611G>A
|
p.Arg1204Gln
|
3.0 |
|
B | ||
| 13873 | chr17 | 31233149 | T | TGGGTGATCAAGGAGAACTCCCTATAGCGATG |
c.3646_3676dup
|
p.Ala1226GlyfsTer2
|
- | 4.0 |
|
B | |
| 14044 | chr17 | 31233167 | TC | T |
c.3665del
|
p.Pro1222LeufsTer2
|
4.5 |
|
B |