268252 |
c.664C>T |
p.R222* |
Chr.1:
34200996-34200996
on Build GRCh38
|
6126498 |
c.695T>C |
p.L232P |
Chr.1:
34201027-34201027
on Build GRCh38
|
2079756 |
c.1152G>A |
p.K384K |
Chr.1:
34200914-34200914
on Build GRCh38
|
6063293 |
c.1270+1G>A |
p.? |
Chr.1:
34201033-34201033
on Build GRCh38
|
1342057 |
c.1227G>A |
p.P409P |
Chr.1:
34200989-34200989
on Build GRCh38
|
3386107 |
c.648C>T |
p.S216S |
Chr.1:
34200980-34200980
on Build GRCh38
|
381230 |
c.521C>A |
p.A174D |
Chr.1:
34200853-34200853
on Build GRCh38
|
908551 |
c.546C>T |
p.D182D |
Chr.1:
34200878-34200878
on Build GRCh38
|
1342058 |
c.657G>A |
p.P219P |
Chr.1:
34200989-34200989
on Build GRCh38
|
306914 |
c.690G>A |
p.P230P |
Chr.1:
34201022-34201022
on Build GRCh38
|
6063297 |
c.1053C>A |
p.S351R |
Chr.1:
34200815-34200815
on Build GRCh38
|
1342054 |
c.481A>C |
p.S161R |
Chr.1:
34200813-34200813
on Build GRCh38
|
3865437 |
c.479G>A |
p.G160E |
Chr.1:
34200811-34200811
on Build GRCh38
|
1584488 |
c.1117G>A |
p.A373T |
Chr.1:
34200879-34200879
on Build GRCh38
|
908553 |
c.563C>A |
p.S188* |
Chr.1:
34200895-34200895
on Build GRCh38
|
3689630 |
c.1235G>A |
p.R412Q |
Chr.1:
34200997-34200997
on Build GRCh38
|
4955204 |
c.523T>C |
p.C175R |
Chr.1:
34200855-34200855
on Build GRCh38
|
5719234 |
c.1194C>T |
p.F398F |
Chr.1:
34200956-34200956
on Build GRCh38
|
1687427 |
c.595C>T |
p.P199S |
Chr.1:
34200927-34200927
on Build GRCh38
|
1146311 |
c.1225C>A |
p.P409T |
Chr.1:
34200987-34200987
on Build GRCh38
|
1163579 |
c.1090G>A |
p.A364T |
Chr.1:
34200852-34200852
on Build GRCh38
|
4031738 |
c.652C>T |
p.Q218* |
Chr.1:
34200984-34200984
on Build GRCh38
|
3488777 |
c.478G>A |
p.G160R |
Chr.1:
34200810-34200810
on Build GRCh38
|
3865436 |
c.1049G>A |
p.G350E |
Chr.1:
34200811-34200811
on Build GRCh38
|
1198495 |
c.1129G>A |
p.A377T |
Chr.1:
34200891-34200891
on Build GRCh38
|
5352532 |
c.625_627delCTT |
p.L209delL |
Chr.1:
34200957-34200959
on Build GRCh38
|
4167691 |
c.689C>T |
p.P230L |
Chr.1:
34201021-34201021
on Build GRCh38
|
7083483 |
c.566T>A |
p.L189Q |
Chr.1:
34200898-34200898
on Build GRCh38
|
172209 |
c.576G>A |
p.P192P |
Chr.1:
34200908-34200908
on Build GRCh38
|
3488778 |
c.1072C>T |
p.P358S |
Chr.1:
34200834-34200834
on Build GRCh38
|
6063298 |
c.483C>A |
p.S161R |
Chr.1:
34200815-34200815
on Build GRCh38
|
1731410 |
c.1081C>A |
p.Q361K |
Chr.1:
34200843-34200843
on Build GRCh38
|
6063294 |
c.700+1G>A |
p.? |
Chr.1:
34201033-34201033
on Build GRCh38
|
6615343 |
c.1128C>T |
p.T376T |
Chr.1:
34200890-34200890
on Build GRCh38
|
4411915 |
c.513G>T |
p.Q171H |
Chr.1:
34200845-34200845
on Build GRCh38
|
1198496 |
c.559G>A |
p.A187T |
Chr.1:
34200891-34200891
on Build GRCh38
|
2079762 |
c.1234C>T |
p.R412* |
Chr.1:
34200996-34200996
on Build GRCh38
|
279344 |
c.656C>T |
p.P219L |
Chr.1:
34200988-34200988
on Build GRCh38
|
4167690 |
c.1259C>T |
p.P420L |
Chr.1:
34201021-34201021
on Build GRCh38
|
4955203 |
c.1093T>C |
p.C365R |
Chr.1:
34200855-34200855
on Build GRCh38
|
1342055 |
c.1209G>T |
p.K403N |
Chr.1:
34200971-34200971
on Build GRCh38
|
3689631 |
c.665G>A |
p.R222Q |
Chr.1:
34200997-34200997
on Build GRCh38
|
7358330 |
c.688C>A |
p.P230T |
Chr.1:
34201020-34201020
on Build GRCh38
|
1342056 |
c.639G>T |
p.K213N |
Chr.1:
34200971-34200971
on Build GRCh38
|
5342357 |
c.1089C>T |
p.D363D |
Chr.1:
34200851-34200851
on Build GRCh38
|
6063295 |
c.1154A>T |
p.K385I |
Chr.1:
34200916-34200916
on Build GRCh38
|
1584487 |
c.1133C>A |
p.S378* |
Chr.1:
34200895-34200895
on Build GRCh38
|
7295197 |
c.1087G>A |
p.D363N |
Chr.1:
34200849-34200849
on Build GRCh38
|
6615344 |
c.558C>T |
p.T186T |
Chr.1:
34200890-34200890
on Build GRCh38
|
908552 |
c.547G>A |
p.A183T |
Chr.1:
34200879-34200879
on Build GRCh38
|
5352531 |
c.1195_1197delCTT |
p.L399delL |
Chr.1:
34200957-34200959
on Build GRCh38
|
4411914 |
c.1083G>T |
p.Q361H |
Chr.1:
34200845-34200845
on Build GRCh38
|
3386106 |
c.1218C>T |
p.S406S |
Chr.1:
34200980-34200980
on Build GRCh38
|
7271171 |
c.1260G>A |
p.P420P |
Chr.1:
34201022-34201022
on Build GRCh38
|
5719235 |
c.624C>T |
p.F208F |
Chr.1:
34200956-34200956
on Build GRCh38
|
6126497 |
c.1265T>C |
p.L422P |
Chr.1:
34201027-34201027
on Build GRCh38
|
1584489 |
c.1116C>T |
p.D372D |
Chr.1:
34200878-34200878
on Build GRCh38
|
3785273 |
c.1146G>A |
p.P382P |
Chr.1:
34200908-34200908
on Build GRCh38
|
5380767 |
c.1209G>A |
p.K403K |
Chr.1:
34200971-34200971
on Build GRCh38
|
5342358 |
c.519C>T |
p.D173D |
Chr.1:
34200851-34200851
on Build GRCh38
|
3488779 |
c.502C>T |
p.P168S |
Chr.1:
34200834-34200834
on Build GRCh38
|
681000 |
c.655C>A |
p.P219T |
Chr.1:
34200987-34200987
on Build GRCh38
|
7358329 |
c.1258C>A |
p.P420T |
Chr.1:
34201020-34201020
on Build GRCh38
|
1731411 |
c.511C>A |
p.Q171K |
Chr.1:
34200843-34200843
on Build GRCh38
|
1246702 |
c.1175A>C |
p.K392T |
Chr.1:
34200937-34200937
on Build GRCh38
|
1687426 |
c.1165C>T |
p.P389S |
Chr.1:
34200927-34200927
on Build GRCh38
|
6063296 |
c.584A>T |
p.K195I |
Chr.1:
34200916-34200916
on Build GRCh38
|
5380768 |
c.639G>A |
p.K213K |
Chr.1:
34200971-34200971
on Build GRCh38
|
3488776 |
c.1048G>A |
p.G350R |
Chr.1:
34200810-34200810
on Build GRCh38
|
1163580 |
c.520G>A |
p.A174T |
Chr.1:
34200852-34200852
on Build GRCh38
|
1246706 |
c.1107T>A |
p.G369G |
Chr.1:
34200869-34200869
on Build GRCh38
|
4031737 |
c.1222C>T |
p.Q408* |
Chr.1:
34200984-34200984
on Build GRCh38
|
7083482 |
c.1136T>A |
p.L379Q |
Chr.1:
34200898-34200898
on Build GRCh38
|
1342053 |
c.1051A>C |
p.S351R |
Chr.1:
34200813-34200813
on Build GRCh38
|
1246707 |
c.537T>A |
p.G179G |
Chr.1:
34200869-34200869
on Build GRCh38
|
2079757 |
c.582G>A |
p.K194K |
Chr.1:
34200914-34200914
on Build GRCh38
|
7295198 |
c.517G>A |
p.D173N |
Chr.1:
34200849-34200849
on Build GRCh38
|
1246703 |
c.605A>C |
p.K202T |
Chr.1:
34200937-34200937
on Build GRCh38
|