2050416 |
c.608-5C>T |
p.? |
Chr.1:
242220120-242220120
on Build GRCh38
|
679643 |
c.424G>T |
p.G142C |
Chr.1:
242220023-242220023
on Build GRCh38
|
1139111 |
c.620C>T |
p.T207M |
Chr.1:
242220103-242220103
on Build GRCh38
|
6748632 |
c.523G>A |
p.G175S |
Chr.1:
242220014-242220014
on Build GRCh38
|
4812975 |
c.478T>C |
p.S160P |
Chr.1:
242220059-242220059
on Build GRCh38
|
5983556 |
c.548A>G |
p.Q183R |
Chr.1:
242219989-242219989
on Build GRCh38
|
679641 |
c.393C>A |
p.F131L |
Chr.1:
242220054-242220054
on Build GRCh38
|
3864985 |
c.669C>T |
p.F223F |
Chr.1:
242220054-242220054
on Build GRCh38
|
4904225 |
c.539C>T |
p.S180F |
Chr.1:
242219998-242219998
on Build GRCh38
|
1146272 |
c.691G>T |
p.V231L |
Chr.1:
242220032-242220032
on Build GRCh38
|
6859539 |
c.352A>C |
p.N118H |
Chr.1:
242220095-242220095
on Build GRCh38
|
6859538 |
c.442A>C |
p.N148H |
Chr.1:
242220095-242220095
on Build GRCh38
|
3486225 |
c.449C>T |
p.S150F |
Chr.1:
242219998-242219998
on Build GRCh38
|
5457663 |
c.526T>A |
p.L176M |
Chr.1:
242220011-242220011
on Build GRCh38
|
7414418 |
c.688C>A |
p.H230N |
Chr.1:
242220035-242220035
on Build GRCh38
|
4567469 |
c.539_540CC>TT |
p.S180F |
Chr.1:
242219997-242219998
on Build GRCh38
|
5457664 |
c.436T>A |
p.L146M |
Chr.1:
242220011-242220011
on Build GRCh38
|
354949 |
c.336C>A |
p.A112A |
Chr.1:
242220111-242220111
on Build GRCh38
|
2050411 |
c.450C>T |
p.S150S |
Chr.1:
242219997-242219997
on Build GRCh38
|
6062455 |
c.515G>T |
p.G172V |
Chr.1:
242220022-242220022
on Build GRCh38
|
5983555 |
c.734A>G |
p.Q245R |
Chr.1:
242219989-242219989
on Build GRCh38
|
3486224 |
c.725C>T |
p.S242F |
Chr.1:
242219998-242219998
on Build GRCh38
|
3864988 |
c.384G>A |
p.Q128Q |
Chr.1:
242220063-242220063
on Build GRCh38
|
1340717 |
c.336C>T |
p.A112A |
Chr.1:
242220111-242220111
on Build GRCh38
|
4235007 |
c.483C>A |
p.F161L |
Chr.1:
242220054-242220054
on Build GRCh38
|
3864984 |
c.414C>T |
p.H138H |
Chr.1:
242220033-242220033
on Build GRCh38
|
1340713 |
c.381G>T |
p.L127L |
Chr.1:
242220066-242220066
on Build GRCh38
|
6062454 |
c.701G>T |
p.G234V |
Chr.1:
242220022-242220022
on Build GRCh38
|
5025552 |
c.508T>G |
p.Y170D |
Chr.1:
242220029-242220029
on Build GRCh38
|
1340712 |
c.657G>T |
p.L219L |
Chr.1:
242220066-242220066
on Build GRCh38
|
4782065 |
c.451G>A |
p.A151T |
Chr.1:
242220086-242220086
on Build GRCh38
|
4392667 |
c.490G>A |
p.V164M |
Chr.1:
242220047-242220047
on Build GRCh38
|
4870272 |
c.522C>T |
p.A174A |
Chr.1:
242220015-242220015
on Build GRCh38
|
5983557 |
c.458A>G |
p.Q153R |
Chr.1:
242219989-242219989
on Build GRCh38
|
4787111 |
c.471G>T |
p.L157L |
Chr.1:
242220066-242220066
on Build GRCh38
|
4785072 |
c.546A>C |
p.G182G |
Chr.1:
242219991-242219991
on Build GRCh38
|
1340716 |
c.612C>T |
p.A204A |
Chr.1:
242220111-242220111
on Build GRCh38
|
4812610 |
c.514G>T |
p.G172C |
Chr.1:
242220023-242220023
on Build GRCh38
|
1473699 |
c.664T>C |
p.S222P |
Chr.1:
242220059-242220059
on Build GRCh38
|
3864987 |
c.660G>A |
p.Q220Q |
Chr.1:
242220063-242220063
on Build GRCh38
|
1738427 |
c.400G>A |
p.V134M |
Chr.1:
242220047-242220047
on Build GRCh38
|
3864983 |
c.690C>T |
p.H230H |
Chr.1:
242220033-242220033
on Build GRCh38
|
5025553 |
c.418T>G |
p.Y140D |
Chr.1:
242220029-242220029
on Build GRCh38
|
679642 |
c.415G>T |
p.V139L |
Chr.1:
242220032-242220032
on Build GRCh38
|
2050410 |
c.726C>T |
p.S242S |
Chr.1:
242219997-242219997
on Build GRCh38
|
5992541 |
c.450C>T |
p.T150T |
Chr.1:
242220087-242220087
on Build GRCh38
|
1146273 |
c.669C>A |
p.F223L |
Chr.1:
242220054-242220054
on Build GRCh38
|
6062456 |
c.425G>T |
p.G142V |
Chr.1:
242220022-242220022
on Build GRCh38
|
1146271 |
c.700G>T |
p.G234C |
Chr.1:
242220023-242220023
on Build GRCh38
|
4504813 |
c.489C>T |
p.I163I |
Chr.1:
242220048-242220048
on Build GRCh38
|
3486227 |
c.399C>T |
p.I133I |
Chr.1:
242220048-242220048
on Build GRCh38
|
1584327 |
c.708C>T |
p.A236A |
Chr.1:
242220015-242220015
on Build GRCh38
|
1340711 |
c.456A>C |
p.G152G |
Chr.1:
242219991-242219991
on Build GRCh38
|
2050417 |
c.332-5C>T |
p.? |
Chr.1:
242220120-242220120
on Build GRCh38
|
5025551 |
c.694T>G |
p.Y232D |
Chr.1:
242220029-242220029
on Build GRCh38
|
72217 |
c.344C>T |
p.T115M |
Chr.1:
242220103-242220103
on Build GRCh38
|
4567470 |
c.449_450CC>TT |
p.S150F |
Chr.1:
242219997-242219998
on Build GRCh38
|
4862677 |
c.505G>T |
p.V169L |
Chr.1:
242220032-242220032
on Build GRCh38
|
4235005 |
c.540C>T |
p.S180S |
Chr.1:
242219997-242219997
on Build GRCh38
|
7414420 |
c.412C>A |
p.H138N |
Chr.1:
242220035-242220035
on Build GRCh38
|
6748631 |
c.709G>A |
p.G237S |
Chr.1:
242220014-242220014
on Build GRCh38
|
3486226 |
c.675C>T |
p.I225I |
Chr.1:
242220048-242220048
on Build GRCh38
|
5992540 |
c.636C>T |
p.T212T |
Chr.1:
242220087-242220087
on Build GRCh38
|
1340715 |
c.361G>A |
p.A121T |
Chr.1:
242220086-242220086
on Build GRCh38
|
3864986 |
c.393C>T |
p.F131F |
Chr.1:
242220054-242220054
on Build GRCh38
|
1738426 |
c.676G>A |
p.V226M |
Chr.1:
242220047-242220047
on Build GRCh38
|
5457662 |
c.712T>A |
p.L238M |
Chr.1:
242220011-242220011
on Build GRCh38
|
6859537 |
c.628A>C |
p.N210H |
Chr.1:
242220095-242220095
on Build GRCh38
|
4947978 |
c.426C>T |
p.A142A |
Chr.1:
242220111-242220111
on Build GRCh38
|
4235009 |
c.422-5C>T |
p.? |
Chr.1:
242220120-242220120
on Build GRCh38
|
1473700 |
c.388T>C |
p.S130P |
Chr.1:
242220059-242220059
on Build GRCh38
|
1340714 |
c.637G>A |
p.A213T |
Chr.1:
242220086-242220086
on Build GRCh38
|
5108463 |
c.434C>T |
p.T145M |
Chr.1:
242220103-242220103
on Build GRCh38
|
7414419 |
c.502C>A |
p.H168N |
Chr.1:
242220035-242220035
on Build GRCh38
|
1340710 |
c.732A>C |
p.G244G |
Chr.1:
242219991-242219991
on Build GRCh38
|
906544 |
c.432C>T |
p.A144A |
Chr.1:
242220015-242220015
on Build GRCh38
|
5992542 |
c.360C>T |
p.T120T |
Chr.1:
242220087-242220087
on Build GRCh38
|
4567468 |
c.725_726CC>TT |
p.S242F |
Chr.1:
242219997-242219998
on Build GRCh38
|
6748633 |
c.433G>A |
p.G145S |
Chr.1:
242220014-242220014
on Build GRCh38
|