4576719 |
c.431A>G |
p.K144R |
Chr.1:
196994080-196994080
on Build GRCh38
|
5735781 |
c.480delA |
p.E163fs*9 |
Chr.1:
196994129-196994129
on Build GRCh38
|
3480945 |
c.651G>A |
p.G217G |
Chr.1:
196994228-196994228
on Build GRCh38
|
273706 |
c.461C>T |
p.A154V |
Chr.1:
196994110-196994110
on Build GRCh38
|
5754310 |
c.591C>A |
p.N197K |
Chr.1:
196994240-196994240
on Build GRCh38
|
5379022 |
c.535C>T |
p.L179F |
Chr.1:
196994184-196994184
on Build GRCh38
|
6898359 |
c.643C>T |
p.Q215* |
Chr.1:
196994220-196994220
on Build GRCh38
|
4895571 |
c.593C>T |
p.S198F |
Chr.1:
196994170-196994170
on Build GRCh38
|
6527975 |
c.445G>C |
p.V149L |
Chr.1:
196994094-196994094
on Build GRCh38
|
3480942 |
c.551C>T |
p.S184L |
Chr.1:
196994200-196994200
on Build GRCh38
|
1689501 |
c.559G>A |
p.E187K |
Chr.1:
196994136-196994136
on Build GRCh38
|
6123872 |
c.679G>T |
p.G227* |
Chr.1:
196994256-196994256
on Build GRCh38
|
2125097 |
c.548G>A |
p.G183E |
Chr.1:
196994197-196994197
on Build GRCh38
|
6627535 |
c.433G>A |
p.G145R |
Chr.1:
196994082-196994082
on Build GRCh38
|
3667430 |
c.435A>G |
p.G145G |
Chr.1:
196994084-196994084
on Build GRCh38
|
3376901 |
c.658C>T |
p.P220S |
Chr.1:
196994235-196994235
on Build GRCh38
|
3667431 |
c.507A>G |
p.G169G |
Chr.1:
196994084-196994084
on Build GRCh38
|
5754311 |
c.663C>A |
p.N221K |
Chr.1:
196994240-196994240
on Build GRCh38
|
6627546 |
c.599_600insA |
p.N202fs*20 |
Chr.1:
196994176-196994177
on Build GRCh38
|
1337524 |
c.479_480insA |
p.E163fs*35 |
Chr.1:
196994128-196994129
on Build GRCh38
|
4402793 |
c.521C>T |
p.P174L |
Chr.1:
196994098-196994098
on Build GRCh38
|
5735782 |
c.552delA |
p.E187fs*9 |
Chr.1:
196994129-196994129
on Build GRCh38
|
5379023 |
c.607C>T |
p.L203F |
Chr.1:
196994184-196994184
on Build GRCh38
|
4895570 |
c.521C>T |
p.S174F |
Chr.1:
196994170-196994170
on Build GRCh38
|
6988663 |
c.557C>T |
p.S186L |
Chr.1:
196994206-196994206
on Build GRCh38
|
678382 |
c.548G>T |
p.G183V |
Chr.1:
196994197-196994197
on Build GRCh38
|
4576720 |
c.503A>G |
p.K168R |
Chr.1:
196994080-196994080
on Build GRCh38
|
307400 |
c.570C>A |
p.Y190* |
Chr.1:
196994219-196994219
on Build GRCh38
|
424935 |
c.513G>A |
p.L171L |
Chr.1:
196994162-196994162
on Build GRCh38
|
1646063 |
c.620G>T |
p.G207V |
Chr.1:
196994197-196994197
on Build GRCh38
|
3376900 |
c.586C>T |
p.P196S |
Chr.1:
196994235-196994235
on Build GRCh38
|
109836 |
c.527G>A |
p.R176K |
Chr.1:
196994176-196994176
on Build GRCh38
|
4026556 |
c.490A>G |
p.S164G |
Chr.1:
196994139-196994139
on Build GRCh38
|
5379020 |
c.519C>T |
p.F173F |
Chr.1:
196994168-196994168
on Build GRCh38
|
6627545 |
c.527_528insA |
p.N178fs*20 |
Chr.1:
196994176-196994177
on Build GRCh38
|
1560359 |
c.588T>G |
p.P196P |
Chr.1:
196994237-196994237
on Build GRCh38
|
3480943 |
c.623C>T |
p.S208L |
Chr.1:
196994200-196994200
on Build GRCh38
|
1601461 |
c.566A>G |
p.Y189C |
Chr.1:
196994143-196994143
on Build GRCh38
|
2125090 |
c.543T>A |
p.D181E |
Chr.1:
196994120-196994120
on Build GRCh38
|
5782395 |
c.458A>G |
p.E153G |
Chr.1:
196994107-196994107
on Build GRCh38
|
6123871 |
c.607G>T |
p.G203* |
Chr.1:
196994256-196994256
on Build GRCh38
|
5075417 |
c.660T>G |
p.P220P |
Chr.1:
196994237-196994237
on Build GRCh38
|
1601460 |
c.494A>G |
p.Y165C |
Chr.1:
196994143-196994143
on Build GRCh38
|
5001264 |
c.562C>A |
p.Q188K |
Chr.1:
196994211-196994211
on Build GRCh38
|
5827686 |
c.551_552insA |
p.E187fs*35 |
Chr.1:
196994128-196994129
on Build GRCh38
|
5001265 |
c.634C>A |
p.Q212K |
Chr.1:
196994211-196994211
on Build GRCh38
|
6988664 |
c.629C>T |
p.S210L |
Chr.1:
196994206-196994206
on Build GRCh38
|
3480944 |
c.579G>A |
p.G193G |
Chr.1:
196994228-196994228
on Build GRCh38
|
4402792 |
c.449C>T |
p.P150L |
Chr.1:
196994098-196994098
on Build GRCh38
|
6898358 |
c.571C>T |
p.Q191* |
Chr.1:
196994220-196994220
on Build GRCh38
|
6627536 |
c.505G>A |
p.G169R |
Chr.1:
196994082-196994082
on Build GRCh38
|
3418565 |
c.596C>A |
p.P199Q |
Chr.1:
196994245-196994245
on Build GRCh38
|
2125089 |
c.471T>A |
p.D157E |
Chr.1:
196994120-196994120
on Build GRCh38
|
5782396 |
c.530A>G |
p.E177G |
Chr.1:
196994107-196994107
on Build GRCh38
|
3418566 |
c.668C>A |
p.P223Q |
Chr.1:
196994245-196994245
on Build GRCh38
|
5379021 |
c.591C>T |
p.F197F |
Chr.1:
196994168-196994168
on Build GRCh38
|
5207761 |
c.585G>A |
p.L195L |
Chr.1:
196994162-196994162
on Build GRCh38
|
1689500 |
c.487G>A |
p.E163K |
Chr.1:
196994136-196994136
on Build GRCh38
|
678383 |
c.521C>A |
p.S174Y |
Chr.1:
196994170-196994170
on Build GRCh38
|
4026557 |
c.562A>G |
p.S188G |
Chr.1:
196994139-196994139
on Build GRCh38
|
2125098 |
c.620G>A |
p.G207E |
Chr.1:
196994197-196994197
on Build GRCh38
|
6527976 |
c.517G>C |
p.V173L |
Chr.1:
196994094-196994094
on Build GRCh38
|
1646064 |
c.593C>A |
p.S198Y |
Chr.1:
196994170-196994170
on Build GRCh38
|