5763652 |
c.5740C>A |
p.Q1914K |
Chr.1:
6106618-6106618
on Build GRCh38
|
6871304 |
c.2235G>A |
p.V745V |
Chr.1:
6106694-6106694
on Build GRCh38
|
4672038 |
c.2289C>T |
p.R763R |
Chr.1:
6106640-6106640
on Build GRCh38
|
4899152 |
c.2227C>T |
p.P743S |
Chr.1:
6106702-6106702
on Build GRCh38
|
4672040 |
c.2238C>T |
p.A746A |
Chr.1:
6106691-6106691
on Build GRCh38
|
6871303 |
c.5664G>A |
p.V1888V |
Chr.1:
6106694-6106694
on Build GRCh38
|
5763653 |
c.2311C>A |
p.Q771K |
Chr.1:
6106618-6106618
on Build GRCh38
|
6506857 |
c.5705G>T |
p.R1902L |
Chr.1:
6106653-6106653
on Build GRCh38
|
5714307 |
c.5705G>A |
p.R1902H |
Chr.1:
6106653-6106653
on Build GRCh38
|
5475842 |
c.5757C>A |
p.S1919S |
Chr.1:
6106495-6106495
on Build GRCh38
|
4239977 |
c.2222G>A |
p.R741H |
Chr.1:
6106707-6106707
on Build GRCh38
|
5714308 |
c.2276G>A |
p.R759H |
Chr.1:
6106653-6106653
on Build GRCh38
|
4239973 |
c.2290G>T |
p.A764S |
Chr.1:
6106639-6106639
on Build GRCh38
|
331199 |
c.5649_5650CC>GA |
p.S1883>? |
Chr.1:
6106708-6106709
on Build GRCh38
|
7207083 |
c.5670C>T |
p.A1890A |
Chr.1:
6106688-6106688
on Build GRCh38
|
4239975 |
c.2256G>A |
p.S752S |
Chr.1:
6106673-6106673
on Build GRCh38
|
4672039 |
c.5667C>T |
p.A1889A |
Chr.1:
6106691-6106691
on Build GRCh38
|
5434920 |
c.5644C>T |
p.L1882L |
Chr.1:
6106714-6106714
on Build GRCh38
|
4166601 |
c.5650C>T |
p.R1884C |
Chr.1:
6106708-6106708
on Build GRCh38
|
7305551 |
c.2243G>A |
p.R748Q |
Chr.1:
6106686-6106686
on Build GRCh38
|
1721701 |
c.5736C>T |
p.I1912I |
Chr.1:
6106622-6106622
on Build GRCh38
|
4672037 |
c.5718C>T |
p.R1906R |
Chr.1:
6106640-6106640
on Build GRCh38
|
3805674 |
c.5785C>T |
p.P1929S |
Chr.1:
6106467-6106467
on Build GRCh38
|
4876948 |
c.2287C>T |
p.R763C |
Chr.1:
6106642-6106642
on Build GRCh38
|
1343713 |
c.5660delC |
p.P1887fs*14 |
Chr.1:
6106698-6106698
on Build GRCh38
|
4166602 |
c.2221C>T |
p.R741C |
Chr.1:
6106708-6106708
on Build GRCh38
|
319434 |
c.5641A>G |
p.M1881V |
Chr.1:
6106717-6106717
on Build GRCh38
|
5554850 |
c.2293G>A |
p.G765R |
Chr.1:
6106636-6106636
on Build GRCh38
|
1602593 |
c.5675T>C |
p.L1892P |
Chr.1:
6106683-6106683
on Build GRCh38
|
4500835 |
c.5747C>T |
p.A1916V |
Chr.1:
6106505-6106505
on Build GRCh38
|
6540037 |
c.2260C>A |
p.R754S |
Chr.1:
6106669-6106669
on Build GRCh38
|
4781245 |
c.2246T>C |
p.L749P |
Chr.1:
6106683-6106683
on Build GRCh38
|
5967684 |
c.2242C>T |
p.R748W |
Chr.1:
6106687-6106687
on Build GRCh38
|
5434921 |
c.2215C>T |
p.L739L |
Chr.1:
6106714-6106714
on Build GRCh38
|
7207084 |
c.2241C>T |
p.A747A |
Chr.1:
6106688-6106688
on Build GRCh38
|
2237715 |
c.5651G>A |
p.R1884H |
Chr.1:
6106707-6106707
on Build GRCh38
|
5816577 |
c.5743-4C>G |
p.? |
Chr.1:
6106513-6106513
on Build GRCh38
|
2237710 |
c.5719G>T |
p.A1907S |
Chr.1:
6106639-6106639
on Build GRCh38
|
5554849 |
c.5722G>A |
p.G1908R |
Chr.1:
6106636-6106636
on Build GRCh38
|
2237712 |
c.5685G>A |
p.S1895S |
Chr.1:
6106673-6106673
on Build GRCh38
|
6540036 |
c.5689C>A |
p.R1897S |
Chr.1:
6106669-6106669
on Build GRCh38
|
7305550 |
c.5672G>A |
p.R1891Q |
Chr.1:
6106686-6106686
on Build GRCh38
|
4335359 |
c.2231delC |
p.P744fs*14 |
Chr.1:
6106698-6106698
on Build GRCh38
|
6506858 |
c.2276G>T |
p.R759L |
Chr.1:
6106653-6106653
on Build GRCh38
|
3491438 |
c.5656C>T |
p.P1886S |
Chr.1:
6106702-6106702
on Build GRCh38
|
5967683 |
c.5671C>T |
p.R1891W |
Chr.1:
6106687-6106687
on Build GRCh38
|
1470350 |
c.5716C>T |
p.R1906C |
Chr.1:
6106642-6106642
on Build GRCh38
|
6378454 |
c.5789A>T |
p.N1930I |
Chr.1:
6106463-6106463
on Build GRCh38
|