Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26979 | chr17 | 40356143 | G | T |
c.1306G>T
-
|
p.Gly436Cys
-
|
- | 3.0 |
|
B | |
| 14491 | chr17 | 40389948 | C | G |
c.4467+17G>C
|
-
|
- | 3.0 |
|
B | |
| 982 | chr17 | 40390083 | C | G |
c.4349G>C
|
p.Gly1450Ala
|
- | 3.0 |
|
B | |
| 19811 | chr17 | 40390128 | CT | C |
c.4303del
|
p.Arg1435GlyfsTer13
|
3.0 |
|
B | ||
| 2622 | chr17 | 40392074 | C | T |
c.4126G>A
|
p.Val1376Met
|
2.5 |
|
B | ||
| 19812 | chr17 | 40392119 | TA | T |
c.4089-9del
|
-
|
3.0 |
|
B | ||
| 15054 | chr17 | 40395509 | C | T |
c.3751G>A
|
p.Asp1251Asn
|
- | 3.0 |
|
B | |
| 18173 | chr17 | 40396475 | G | A |
c.3538-10C>T
|
-
|
3.0 |
|
B | ||
| 8690 | chr17 | 40399917 | G | A |
c.3151C>T
|
p.Gln1051Ter
|
- | 3.0 |
|
B | |
| 9070 | chr17 | 40399917 | G | C |
c.3151C>G
|
p.Gln1051Glu
|
- | 3.0 |
|
B | |
| 8727 | chr17 | 40400223 | T | A |
c.2986A>T
|
p.Thr996Ser
|
- | 3.0 |
|
B | |
| 18417 | chr17 | 40400271 | CCT | C |
c.2936_2937del
|
p.Glu979GlyfsTer15
|
- | 3.0 |
|
B | |
| 31011 | chr17 | 40400916 | GTTGGGGATTT | G |
c.2588_2597del
|
p.Lys863ThrfsTer8
|
- | 3.0 |
|
B | |
| 21333 | chr17 | 40400938 | C | A |
c.2576G>T
|
p.Gly859Val
|
- | 3.0 |
|
B | |
| 15454 | chr17 | 40404206 | C | A |
c.2229G>T
|
p.Lys743Asn
|
- | 4.0 |
|
B | |
| 19768 | chr17 | 40406678 | GT | G |
c.1748del
|
p.Asn583ThrfsTer49
|
- | 3.0 |
|
B | |
| 32931 | chr17 | 40406953 | T | C |
c.1627-11A>G
|
-
|
- | 3.0 |
|
B | |
| 26941 | chr17 | 40408050 | GGC | G |
c.1415_1416del
|
p.Gly472AlafsTer15
|
- | 3.0 |
|
B | |
| 11718 | chr17 | 40408495 | C | T |
c.1339G>A
|
p.Ala447Thr
|
- | 3.0 |
|
B | |
| 9407 | chr17 | 40408559 | C | G |
c.1275G>C
|
p.Lys425Asn
|
- | 3.0 |
|
B |