Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8919 | chr17 | 7673808 | T | C |
c.812A>G
|
p.Glu271Gly
|
- | 3.5 |
|
B | |
| 32195 | chr17 | 7673809 | C | A |
c.811G>T
|
p.Glu271Ter
|
4.0 |
|
B | ||
| 6516 | chr17 | 7673809 | C | T |
c.811G>A
|
p.Glu271Lys
|
3.5 |
|
B | ||
| 11695 | chr17 | 7673809 | CA | C |
c.810del
|
p.Phe270LeufsTer75
|
4.0 |
|
B | ||
| 20876 | chr17 | 7673811 | A | C |
c.809T>G
|
p.Phe270Cys
|
4.0 |
|
B | ||
| 508 | chr17 | 7673812 | A | C |
c.808T>G
|
p.Phe270Val
|
3.5 |
|
B | ||
| 15721 | chr17 | 7673818 | TC | T |
c.801del
|
p.Asn268ThrfsTer77
|
- | 4.0 |
|
B | |
| 9750 | chr17 | 7673820 | C | G |
c.800G>C
|
p.Arg267Pro
|
3.5 |
|
B | ||
| 22939 | chr17 | 7673820 | C | T |
c.800G>A
|
p.Arg267Gln
|
3.5 |
|
B | ||
| 27953 | chr17 | 7673823 | C | A |
c.797G>T
|
p.Gly266Val
|
3.5 |
|
B | ||
| 6313 | chr17 | 7673823 | C | T |
c.797G>A
|
p.Gly266Glu
|
4.0 |
|
B | ||
| 2132 | chr17 | 7673824 | C | T |
c.796G>A
|
p.Gly266Arg
|
3.5 |
|
B | ||
| 2771 | chr17 | 7673825 | CAGT | C |
c.792_794del
|
p.Leu265del
|
- | 4.0 |
|
B | |
| 1555 | chr17 | 7673826 | A | G |
c.794T>C
|
p.Leu265Pro
|
3.5 |
|
B | ||
| 709 | chr17 | 7673830 | G | A |
c.790C>T
|
p.Leu264=
|
- | 2.5 |
|
B | |
| 1871 | chr17 | 7673830 | G | GA |
c.789dup
|
p.Leu264SerfsTer8
|
- | 4.5 |
|
B | |
| 6720 | chr17 | 7673832 | T | TTACCAC |
c.783-1_787dup
|
p.Ser261_Gly262dup
|
- | 3.0 |
|
B | |
| 1459 | chr17 | 7674177 | TGACCTGGAGTCTTC | T |
c.772_782+3del
|
p.?
|
- | 4.0 |
|
B | |
| 10277 | chr17 | 7674179 | A | T |
c.782+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 691 | chr17 | 7674180 | C | A |
c.782+1G>T
|
p.?
|
4.5 |
|
B |