6611271 |
c.850G>A |
p.A284T |
Chr.1:
48742667-48742667
on Build GRCh38
|
2192017 |
c.836C>T |
p.S279L |
Chr.1:
48742681-48742681
on Build GRCh38
|
2192018 |
c.329C>T |
p.S110L |
Chr.1:
48742681-48742681
on Build GRCh38
|
6388211 |
c.361G>T |
p.D121Y |
Chr.1:
48742649-48742649
on Build GRCh38
|
1184659 |
c.806G>T |
p.R269L |
Chr.1:
48742711-48742711
on Build GRCh38
|
1184657 |
c.797C>T |
p.P266L |
Chr.1:
48742720-48742720
on Build GRCh38
|
4426884 |
c.776C>T |
p.S259L |
Chr.1:
48742741-48742741
on Build GRCh38
|
4800189 |
c.374T>C |
p.L125P |
Chr.1:
48742636-48742636
on Build GRCh38
|
6611272 |
c.343G>A |
p.A115T |
Chr.1:
48742667-48742667
on Build GRCh38
|
6611279 |
c.833C>T |
p.T278M |
Chr.1:
48742684-48742684
on Build GRCh38
|
6611277 |
c.793G>A |
p.E265K |
Chr.1:
48742724-48742724
on Build GRCh38
|
2192022 |
c.252T>C |
p.D84D |
Chr.1:
48742758-48742758
on Build GRCh38
|
2192021 |
c.759T>C |
p.D253D |
Chr.1:
48742758-48742758
on Build GRCh38
|
2192020 |
c.253C>T |
p.L85L |
Chr.1:
48742757-48742757
on Build GRCh38
|
2192019 |
c.760C>T |
p.L254L |
Chr.1:
48742757-48742757
on Build GRCh38
|
6611280 |
c.326C>T |
p.T109M |
Chr.1:
48742684-48742684
on Build GRCh38
|
3490574 |
c.305C>T |
p.T102I |
Chr.1:
48742705-48742705
on Build GRCh38
|
6885244 |
c.792C>G |
p.P264P |
Chr.1:
48742725-48742725
on Build GRCh38
|
5889450 |
c.748C>T |
p.P250S |
Chr.1:
48742769-48742769
on Build GRCh38
|
6611278 |
c.286G>A |
p.E96K |
Chr.1:
48742724-48742724
on Build GRCh38
|
6611283 |
c.786C>T |
p.L262L |
Chr.1:
48742731-48742731
on Build GRCh38
|
4935101 |
c.299G>A |
p.R100Q |
Chr.1:
48742711-48742711
on Build GRCh38
|
1296536 |
c.778G>A |
p.E260K |
Chr.1:
48742739-48742739
on Build GRCh38
|
4800188 |
c.881T>C |
p.L294P |
Chr.1:
48742636-48742636
on Build GRCh38
|
6885245 |
c.285C>G |
p.P95P |
Chr.1:
48742725-48742725
on Build GRCh38
|
6611284 |
c.279C>T |
p.L93L |
Chr.1:
48742731-48742731
on Build GRCh38
|
3490573 |
c.812C>T |
p.T271I |
Chr.1:
48742705-48742705
on Build GRCh38
|
5353389 |
c.291G>A |
p.P97P |
Chr.1:
48742719-48742719
on Build GRCh38
|
1584603 |
c.839C>T |
p.S280F |
Chr.1:
48742678-48742678
on Build GRCh38
|
1184660 |
c.299G>T |
p.R100L |
Chr.1:
48742711-48742711
on Build GRCh38
|
4935100 |
c.806G>A |
p.R269Q |
Chr.1:
48742711-48742711
on Build GRCh38
|
1184658 |
c.290C>T |
p.P97L |
Chr.1:
48742720-48742720
on Build GRCh38
|
5527336 |
c.284C>T |
p.P95L |
Chr.1:
48742726-48742726
on Build GRCh38
|
5353388 |
c.798G>A |
p.P266P |
Chr.1:
48742719-48742719
on Build GRCh38
|
6293275 |
c.805C>T |
p.R269W |
Chr.1:
48742712-48742712
on Build GRCh38
|
1296537 |
c.271G>A |
p.E91K |
Chr.1:
48742739-48742739
on Build GRCh38
|
6388210 |
c.868G>T |
p.D290Y |
Chr.1:
48742649-48742649
on Build GRCh38
|
4239156 |
c.316G>A |
p.E106K |
Chr.1:
48742694-48742694
on Build GRCh38
|
5889451 |
c.241C>T |
p.P81S |
Chr.1:
48742769-48742769
on Build GRCh38
|
4008675 |
c.849C>T |
p.P283P |
Chr.1:
48742668-48742668
on Build GRCh38
|
4008673 |
c.891C>A |
p.G297G |
Chr.1:
48742626-48742626
on Build GRCh38
|
4008676 |
c.342C>T |
p.P114P |
Chr.1:
48742668-48742668
on Build GRCh38
|
4008674 |
c.384C>A |
p.G128G |
Chr.1:
48742626-48742626
on Build GRCh38
|
4239155 |
c.823G>A |
p.E275K |
Chr.1:
48742694-48742694
on Build GRCh38
|
6293276 |
c.298C>T |
p.R100W |
Chr.1:
48742712-48742712
on Build GRCh38
|
4426885 |
c.269C>T |
p.S90L |
Chr.1:
48742741-48742741
on Build GRCh38
|
910467 |
c.332C>T |
p.S111F |
Chr.1:
48742678-48742678
on Build GRCh38
|
5527335 |
c.791C>T |
p.P264L |
Chr.1:
48742726-48742726
on Build GRCh38
|