5751415 |
c.467_468insT |
p.A158fs*12 |
Chr.1:
81943038-81943039
on Build GRCh38
|
5456666 |
c.677C>T |
p.T226M |
Chr.1:
81943248-81943248
on Build GRCh38
|
7147287 |
c.528C>G |
p.F176L |
Chr.1:
81943087-81943087
on Build GRCh38
|
6255177 |
c.638T>C |
p.V213A |
Chr.1:
81943209-81943209
on Build GRCh38
|
4698463 |
c.652G>T |
p.A218S |
Chr.1:
81943223-81943223
on Build GRCh38
|
4609992 |
c.808C>A |
p.L270I |
Chr.1:
81943367-81943367
on Build GRCh38
|
6448160 |
c.598A>G |
p.T200A |
Chr.1:
81943169-81943169
on Build GRCh38
|
3997673 |
c.792C>T |
p.I264I |
Chr.1:
81943363-81943363
on Build GRCh38
|
6488703 |
c.587G>T |
p.R196L |
Chr.1:
81943158-81943158
on Build GRCh38
|
5847364 |
c.632G>A |
p.G211E |
Chr.1:
81943203-81943203
on Build GRCh38
|
5461511 |
c.548G>A |
p.R183H |
Chr.1:
81943107-81943107
on Build GRCh38
|
3492677 |
c.444G>A |
p.V148V |
Chr.1:
81943003-81943003
on Build GRCh38
|
6540576 |
c.308G>T |
p.R103M |
Chr.1:
81943276-81943276
on Build GRCh38
|
7147286 |
c.516C>G |
p.F172L |
Chr.1:
81943087-81943087
on Build GRCh38
|
3492699 |
c.690G>A |
p.V230V |
Chr.1:
81943261-81943261
on Build GRCh38
|
912465 |
c.616C>A |
p.R206R |
Chr.1:
81943187-81943187
on Build GRCh38
|
261807 |
c.535C>T |
p.R179C |
Chr.1:
81943106-81943106
on Build GRCh38
|
1687963 |
c.617G>A |
p.R206Q |
Chr.1:
81943188-81943188
on Build GRCh38
|
2243069 |
c.516C>T |
p.F172F |
Chr.1:
81943087-81943087
on Build GRCh38
|
5170768 |
c.449A>G |
p.Y150C |
Chr.1:
81943020-81943020
on Build GRCh38
|
681962 |
c.790A>T |
p.I264F |
Chr.1:
81943361-81943361
on Build GRCh38
|
4241822 |
c.690G>A |
p.T230T |
Chr.1:
81943249-81943249
on Build GRCh38
|
4241831 |
c.775G>A |
p.G259R |
Chr.1:
81943346-81943346
on Build GRCh38
|
5071673 |
c.659T>C |
p.F220S |
Chr.1:
81943230-81943230
on Build GRCh38
|
3492678 |
c.432G>A |
p.V144V |
Chr.1:
81943003-81943003
on Build GRCh38
|
4822549 |
c.646G>A |
p.D216N |
Chr.1:
81943217-81943217
on Build GRCh38
|
1344471 |
c.449A>G |
p.Y150C |
Chr.1:
81943020-81943020
on Build GRCh38
|
6527673 |
c.566T>C |
p.L189S |
Chr.1:
81943137-81943137
on Build GRCh38
|
4409634 |
c.685A>C |
p.R229R |
Chr.1:
81943244-81943244
on Build GRCh38
|
6127514 |
c.473C>A |
p.A158D |
Chr.1:
81943044-81943044
on Build GRCh38
|
6127516 |
c.485C>A |
p.A162D |
Chr.1:
81943044-81943044
on Build GRCh38
|
3786265 |
c.533A>G |
p.Y178C |
Chr.1:
81943104-81943104
on Build GRCh38
|
3492696 |
c.680G>A |
p.R227K |
Chr.1:
81943251-81943251
on Build GRCh38
|
681963 |
c.790A>T |
p.I264F |
Chr.1:
81943361-81943361
on Build GRCh38
|
3492701 |
c.702G>A |
p.V234V |
Chr.1:
81943261-81943261
on Build GRCh38
|
4972779 |
c.773G>C |
p.W258S |
Chr.1:
81943344-81943344
on Build GRCh38
|
4409632 |
c.673A>C |
p.R225R |
Chr.1:
81943244-81943244
on Build GRCh38
|
5847359 |
c.496G>A |
p.A166T |
Chr.1:
81943067-81943067
on Build GRCh38
|
5985708 |
c.487C>A |
p.P163T |
Chr.1:
81943058-81943058
on Build GRCh38
|
4609993 |
c.399C>A |
p.D133E |
Chr.1:
81943367-81943367
on Build GRCh38
|
5715895 |
c.629G>A |
p.R210Q |
Chr.1:
81943188-81943188
on Build GRCh38
|
464983 |
c.741T>C |
p.Y247Y |
Chr.1:
81943312-81943312
on Build GRCh38
|
7375280 |
c.787G>T |
p.G263* |
Chr.1:
81943346-81943346
on Build GRCh38
|
141859 |
c.563C>T |
p.S188F |
Chr.1:
81943134-81943134
on Build GRCh38
|
6527676 |
c.169T>C |
p.L57L |
Chr.1:
81943137-81943137
on Build GRCh38
|
912463 |
c.586C>T |
p.R196C |
Chr.1:
81943157-81943157
on Build GRCh38
|
3492695 |
c.680G>A |
p.R227K |
Chr.1:
81943251-81943251
on Build GRCh38
|
4409635 |
c.276A>C |
p.E92D |
Chr.1:
81943244-81943244
on Build GRCh38
|
5847370 |
c.770C>T |
p.T257I |
Chr.1:
81943329-81943329
on Build GRCh38
|
3492691 |
c.639G>A |
p.V213V |
Chr.1:
81943210-81943210
on Build GRCh38
|
5847371 |
c.758C>T |
p.T253I |
Chr.1:
81943329-81943329
on Build GRCh38
|
3492702 |
c.690G>A |
p.V230V |
Chr.1:
81943261-81943261
on Build GRCh38
|
5591673 |
c.626G>A |
p.G209D |
Chr.1:
81943197-81943197
on Build GRCh38
|
1687961 |
c.553G>A |
p.E185K |
Chr.1:
81943124-81943124
on Build GRCh38
|
5591677 |
c.626G>A |
p.G209D |
Chr.1:
81943197-81943197
on Build GRCh38
|
2243067 |
c.479G>A |
p.C160Y |
Chr.1:
81943050-81943050
on Build GRCh38
|
6540574 |
c.705G>T |
p.R235S |
Chr.1:
81943276-81943276
on Build GRCh38
|
1213602 |
c.655G>A |
p.V219I |
Chr.1:
81943226-81943226
on Build GRCh38
|
4241823 |
c.678G>A |
p.T226T |
Chr.1:
81943249-81943249
on Build GRCh38
|
4241810 |
c.491G>A |
p.C164Y |
Chr.1:
81943050-81943050
on Build GRCh38
|
6255179 |
c.638T>C |
p.V213A |
Chr.1:
81943209-81943209
on Build GRCh38
|
4166748 |
c.724G>A |
p.E242K |
Chr.1:
81943295-81943295
on Build GRCh38
|
6127510 |
c.495G>T |
p.Q165H |
Chr.1:
81943066-81943066
on Build GRCh38
|
6127512 |
c.507G>T |
p.Q169H |
Chr.1:
81943066-81943066
on Build GRCh38
|
3492692 |
c.639G>A |
p.V213V |
Chr.1:
81943210-81943210
on Build GRCh38
|
681967 |
c.404T>C |
p.V135A |
Chr.1:
81942975-81942975
on Build GRCh38
|
464982 |
c.741T>C |
p.Y247Y |
Chr.1:
81943312-81943312
on Build GRCh38
|
6064213 |
c.541G>A |
p.D181N |
Chr.1:
81943112-81943112
on Build GRCh38
|
4409636 |
c.673A>C |
p.R225R |
Chr.1:
81943244-81943244
on Build GRCh38
|
6448162 |
c.610A>G |
p.T204A |
Chr.1:
81943169-81943169
on Build GRCh38
|
6527677 |
c.566T>C |
p.L189S |
Chr.1:
81943137-81943137
on Build GRCh38
|
6127509 |
c.519G>T |
p.M173I |
Chr.1:
81943090-81943090
on Build GRCh38
|
5171215 |
c.681G>A |
p.R227R |
Chr.1:
81943252-81943252
on Build GRCh38
|
5715896 |
c.617G>A |
p.R206Q |
Chr.1:
81943188-81943188
on Build GRCh38
|
4698461 |
c.652G>T |
p.A218S |
Chr.1:
81943223-81943223
on Build GRCh38
|
3492683 |
c.528C>T |
p.F176F |
Chr.1:
81943087-81943087
on Build GRCh38
|
4972782 |
c.773G>C |
p.W258S |
Chr.1:
81943344-81943344
on Build GRCh38
|
426732 |
c.760T>C |
p.S254P |
Chr.1:
81943331-81943331
on Build GRCh38
|
3786266 |
c.533A>G |
p.Y178C |
Chr.1:
81943104-81943104
on Build GRCh38
|
4010102 |
c.808G>T |
p.E270* |
Chr.1:
81943379-81943379
on Build GRCh38
|
3692066 |
c.586C>T |
p.R196C |
Chr.1:
81943157-81943157
on Build GRCh38
|
5343103 |
c.415A>T |
p.T139S |
Chr.1:
81942986-81942986
on Build GRCh38
|
2243089 |
c.785C>T |
p.T262I |
Chr.1:
81943356-81943356
on Build GRCh38
|
4822548 |
c.646G>A |
p.D216N |
Chr.1:
81943217-81943217
on Build GRCh38
|
681966 |
c.404T>C |
p.V135A |
Chr.1:
81942975-81942975
on Build GRCh38
|
6488701 |
c.587G>T |
p.R196L |
Chr.1:
81943158-81943158
on Build GRCh38
|
7175592 |
c.493C>G |
p.Q165E |
Chr.1:
81943064-81943064
on Build GRCh38
|
6127503 |
c.752A>T |
p.H251L |
Chr.1:
81943323-81943323
on Build GRCh38
|
4241834 |
c.797C>T |
p.T266I |
Chr.1:
81943356-81943356
on Build GRCh38
|
3997674 |
c.792C>T |
p.I264I |
Chr.1:
81943363-81943363
on Build GRCh38
|
4241837 |
c.793G>T |
p.D265Y |
Chr.1:
81943364-81943364
on Build GRCh38
|
3966760 |
c.480C>G |
p.C160W |
Chr.1:
81943051-81943051
on Build GRCh38
|
6064215 |
c.541G>A |
p.D181N |
Chr.1:
81943112-81943112
on Build GRCh38
|
3997675 |
c.804C>T |
p.I268I |
Chr.1:
81943363-81943363
on Build GRCh38
|
3492684 |
c.516C>T |
p.F172F |
Chr.1:
81943087-81943087
on Build GRCh38
|
5533930 |
c.808G>A |
p.E270K |
Chr.1:
81943379-81943379
on Build GRCh38
|
5227573 |
c.772T>C |
p.S258P |
Chr.1:
81943331-81943331
on Build GRCh38
|
4495795 |
c.460C>T |
p.Q154* |
Chr.1:
81943031-81943031
on Build GRCh38
|
6527675 |
c.578T>C |
p.L193S |
Chr.1:
81943137-81943137
on Build GRCh38
|
6540573 |
c.705G>T |
p.R235S |
Chr.1:
81943276-81943276
on Build GRCh38
|
7375281 |
c.378G>T |
p.W126C |
Chr.1:
81943346-81943346
on Build GRCh38
|
2243070 |
c.516C>T |
p.F172F |
Chr.1:
81943087-81943087
on Build GRCh38
|
6588696 |
c.596C>T |
p.T199I |
Chr.1:
81943167-81943167
on Build GRCh38
|
5461512 |
c.536G>A |
p.R179H |
Chr.1:
81943107-81943107
on Build GRCh38
|
4566834 |
c.483_484GG>AA |
p.D162N |
Chr.1:
81943054-81943055
on Build GRCh38
|
7375282 |
c.775G>T |
p.G259* |
Chr.1:
81943346-81943346
on Build GRCh38
|
6064209 |
c.793G>C |
p.D265H |
Chr.1:
81943364-81943364
on Build GRCh38
|
5847369 |
c.758C>T |
p.T253I |
Chr.1:
81943329-81943329
on Build GRCh38
|
5985711 |
c.90C>A |
p.D30E |
Chr.1:
81943058-81943058
on Build GRCh38
|
6127505 |
c.752A>T |
p.H251L |
Chr.1:
81943323-81943323
on Build GRCh38
|
5985710 |
c.499C>A |
p.P167T |
Chr.1:
81943058-81943058
on Build GRCh38
|
3492681 |
c.469G>A |
p.E157K |
Chr.1:
81943028-81943028
on Build GRCh38
|
5985712 |
c.487C>A |
p.P163T |
Chr.1:
81943058-81943058
on Build GRCh38
|
1735476 |
c.536G>A |
p.R179H |
Chr.1:
81943107-81943107
on Build GRCh38
|
4822550 |
c.658G>A |
p.D220N |
Chr.1:
81943217-81943217
on Build GRCh38
|
426730 |
c.724G>A |
p.E242K |
Chr.1:
81943295-81943295
on Build GRCh38
|
3966757 |
c.480C>G |
p.C160W |
Chr.1:
81943051-81943051
on Build GRCh38
|
5751414 |
c.70_71insT |
p.A24fs*14 |
Chr.1:
81943038-81943039
on Build GRCh38
|
2243085 |
c.775G>A |
p.G259R |
Chr.1:
81943346-81943346
on Build GRCh38
|
2243079 |
c.678G>A |
p.T226T |
Chr.1:
81943249-81943249
on Build GRCh38
|
681964 |
c.522C>T |
p.P174P |
Chr.1:
81943093-81943093
on Build GRCh38
|
4495794 |
c.472C>T |
p.Q158* |
Chr.1:
81943031-81943031
on Build GRCh38
|
4241835 |
c.785C>T |
p.T262I |
Chr.1:
81943356-81943356
on Build GRCh38
|
4241829 |
c.787G>A |
p.G263R |
Chr.1:
81943346-81943346
on Build GRCh38
|
5456664 |
c.677C>T |
p.T226M |
Chr.1:
81943248-81943248
on Build GRCh38
|
6064211 |
c.793G>C |
p.D265H |
Chr.1:
81943364-81943364
on Build GRCh38
|
4241830 |
c.378G>A |
p.W126* |
Chr.1:
81943346-81943346
on Build GRCh38
|
3492682 |
c.457G>A |
p.E153K |
Chr.1:
81943028-81943028
on Build GRCh38
|
216421 |
c.814G>A |
p.G272S |
Chr.1:
81943385-81943385
on Build GRCh38
|
4972781 |
c.785G>C |
p.W262S |
Chr.1:
81943344-81943344
on Build GRCh38
|
6190418 |
c.727G>A |
p.A243T |
Chr.1:
81943298-81943298
on Build GRCh38
|
6190420 |
c.739G>A |
p.A247T |
Chr.1:
81943298-81943298
on Build GRCh38
|
3492700 |
c.690G>A |
p.V230V |
Chr.1:
81943261-81943261
on Build GRCh38
|
5751411 |
c.467_468insT |
p.A158fs*12 |
Chr.1:
81943038-81943039
on Build GRCh38
|
2243068 |
c.479G>A |
p.C160Y |
Chr.1:
81943050-81943050
on Build GRCh38
|
681965 |
c.522C>T |
p.P174P |
Chr.1:
81943093-81943093
on Build GRCh38
|
6488700 |
c.587G>T |
p.R196L |
Chr.1:
81943158-81943158
on Build GRCh38
|
6540577 |
c.705G>T |
p.R235S |
Chr.1:
81943276-81943276
on Build GRCh38
|
6127517 |
c.473C>A |
p.A158D |
Chr.1:
81943044-81943044
on Build GRCh38
|
3492676 |
c.432G>A |
p.V144V |
Chr.1:
81943003-81943003
on Build GRCh38
|
3377296 |
c.814G>A |
p.G272S |
Chr.1:
81943385-81943385
on Build GRCh38
|
912461 |
c.540C>T |
p.T180T |
Chr.1:
81943111-81943111
on Build GRCh38
|
3492689 |
c.588C>T |
p.F196F |
Chr.1:
81943147-81943147
on Build GRCh38
|
6702407 |
c.459A>C |
p.E153D |
Chr.1:
81943030-81943030
on Build GRCh38
|
6702409 |
c.471A>C |
p.E157D |
Chr.1:
81943030-81943030
on Build GRCh38
|
6448164 |
c.598A>G |
p.T200A |
Chr.1:
81943169-81943169
on Build GRCh38
|
141858 |
c.529C>T |
p.P177S |
Chr.1:
81943100-81943100
on Build GRCh38
|
1687962 |
c.617G>A |
p.R206Q |
Chr.1:
81943188-81943188
on Build GRCh38
|
6127515 |
c.473C>A |
p.A158D |
Chr.1:
81943044-81943044
on Build GRCh38
|
6588695 |
c.596C>T |
p.T199I |
Chr.1:
81943167-81943167
on Build GRCh38
|
6588697 |
c.608C>T |
p.T203I |
Chr.1:
81943167-81943167
on Build GRCh38
|
6127511 |
c.495G>T |
p.Q165H |
Chr.1:
81943066-81943066
on Build GRCh38
|
6255176 |
c.638T>C |
p.V213A |
Chr.1:
81943209-81943209
on Build GRCh38
|
6255178 |
c.650T>C |
p.V217A |
Chr.1:
81943209-81943209
on Build GRCh38
|
7175590 |
c.493C>G |
p.Q165E |
Chr.1:
81943064-81943064
on Build GRCh38
|
5847363 |
c.632G>A |
p.G211E |
Chr.1:
81943203-81943203
on Build GRCh38
|
3492675 |
c.432G>A |
p.V144V |
Chr.1:
81943003-81943003
on Build GRCh38
|
3492690 |
c.576C>T |
p.F192F |
Chr.1:
81943147-81943147
on Build GRCh38
|
5533933 |
c.808G>A |
p.E270K |
Chr.1:
81943379-81943379
on Build GRCh38
|
5343105 |
c.427A>T |
p.T143S |
Chr.1:
81942986-81942986
on Build GRCh38
|
426731 |
c.724G>A |
p.E242K |
Chr.1:
81943295-81943295
on Build GRCh38
|
4566833 |
c.483_484GG>AA |
p.D162N |
Chr.1:
81943054-81943055
on Build GRCh38
|
4698462 |
c.664G>T |
p.A222S |
Chr.1:
81943223-81943223
on Build GRCh38
|
3966758 |
c.480C>G |
p.C160W |
Chr.1:
81943051-81943051
on Build GRCh38
|
1126939 |
c.749A>G |
p.Y250C |
Chr.1:
81943320-81943320
on Build GRCh38
|
5985709 |
c.487C>A |
p.P163T |
Chr.1:
81943058-81943058
on Build GRCh38
|
6588698 |
c.596C>T |
p.T199I |
Chr.1:
81943167-81943167
on Build GRCh38
|
3966759 |
c.492C>G |
p.C164W |
Chr.1:
81943051-81943051
on Build GRCh38
|
2243086 |
c.775G>A |
p.G259R |
Chr.1:
81943346-81943346
on Build GRCh38
|
197140 |
c.808G>T |
p.E270* |
Chr.1:
81943379-81943379
on Build GRCh38
|
5170767 |
c.461A>G |
p.Y154C |
Chr.1:
81943020-81943020
on Build GRCh38
|
6064217 |
c.509T>C |
p.I170T |
Chr.1:
81943080-81943080
on Build GRCh38
|
6127513 |
c.495G>T |
p.Q165H |
Chr.1:
81943066-81943066
on Build GRCh38
|
3786268 |
c.533A>G |
p.Y178C |
Chr.1:
81943104-81943104
on Build GRCh38
|
5591674 |
c.626G>A |
p.G209D |
Chr.1:
81943197-81943197
on Build GRCh38
|
3492685 |
c.547C>T |
p.R183C |
Chr.1:
81943106-81943106
on Build GRCh38
|
5742732 |
c.754G>A |
p.A252T |
Chr.1:
81943313-81943313
on Build GRCh38
|
912459 |
c.510T>G |
p.I170M |
Chr.1:
81943081-81943081
on Build GRCh38
|
4495793 |
c.460C>T |
p.Q154* |
Chr.1:
81943031-81943031
on Build GRCh38
|
6702408 |
c.459A>C |
p.E153D |
Chr.1:
81943030-81943030
on Build GRCh38
|
3786267 |
c.545A>G |
p.Y182C |
Chr.1:
81943104-81943104
on Build GRCh38
|
2243091 |
c.793G>T |
p.D265Y |
Chr.1:
81943364-81943364
on Build GRCh38
|
7375278 |
c.775G>T |
p.G259* |
Chr.1:
81943346-81943346
on Build GRCh38
|
5227574 |
c.760T>C |
p.S254P |
Chr.1:
81943331-81943331
on Build GRCh38
|
1687960 |
c.553G>A |
p.E185K |
Chr.1:
81943124-81943124
on Build GRCh38
|
4409633 |
c.673A>C |
p.R225R |
Chr.1:
81943244-81943244
on Build GRCh38
|
6127507 |
c.519G>T |
p.M173I |
Chr.1:
81943090-81943090
on Build GRCh38
|
6702411 |
c.459A>C |
p.E153D |
Chr.1:
81943030-81943030
on Build GRCh38
|
4241836 |
c.805G>T |
p.D269Y |
Chr.1:
81943364-81943364
on Build GRCh38
|
5742731 |
c.742G>A |
p.A248T |
Chr.1:
81943313-81943313
on Build GRCh38
|
6064219 |
c.509T>C |
p.I170T |
Chr.1:
81943080-81943080
on Build GRCh38
|
5847358 |
c.496G>A |
p.A166T |
Chr.1:
81943067-81943067
on Build GRCh38
|
3492686 |
c.535C>T |
p.R179C |
Chr.1:
81943106-81943106
on Build GRCh38
|
3692065 |
c.598C>T |
p.R200C |
Chr.1:
81943157-81943157
on Build GRCh38
|
5591675 |
c.638G>A |
p.G213D |
Chr.1:
81943197-81943197
on Build GRCh38
|
3377295 |
c.826G>A |
p.G276S |
Chr.1:
81943385-81943385
on Build GRCh38
|
4609991 |
c.796C>A |
p.L266I |
Chr.1:
81943367-81943367
on Build GRCh38
|
1213603 |
c.655G>A |
p.V219I |
Chr.1:
81943226-81943226
on Build GRCh38
|
6540575 |
c.717G>T |
p.R239S |
Chr.1:
81943276-81943276
on Build GRCh38
|
3805940 |
c.793G>A |
p.D265N |
Chr.1:
81943364-81943364
on Build GRCh38
|
2243080 |
c.678G>A |
p.T226T |
Chr.1:
81943249-81943249
on Build GRCh38
|
197139 |
c.586C>T |
p.R196C |
Chr.1:
81943157-81943157
on Build GRCh38
|
7175589 |
c.493C>G |
p.Q165E |
Chr.1:
81943064-81943064
on Build GRCh38
|
3805943 |
c.793G>A |
p.D265N |
Chr.1:
81943364-81943364
on Build GRCh38
|
3492688 |
c.576C>T |
p.F192F |
Chr.1:
81943147-81943147
on Build GRCh38
|
5343104 |
c.415A>T |
p.T139S |
Chr.1:
81942986-81942986
on Build GRCh38
|
261808 |
c.535C>T |
p.R179C |
Chr.1:
81943106-81943106
on Build GRCh38
|
5742730 |
c.742G>A |
p.A248T |
Chr.1:
81943313-81943313
on Build GRCh38
|
5751413 |
c.479_480insT |
p.A162fs*12 |
Chr.1:
81943038-81943039
on Build GRCh38
|
5742733 |
c.742G>A |
p.A248T |
Chr.1:
81943313-81943313
on Build GRCh38
|
3492697 |
c.692G>A |
p.R231K |
Chr.1:
81943251-81943251
on Build GRCh38
|
1735475 |
c.536G>A |
p.R179H |
Chr.1:
81943107-81943107
on Build GRCh38
|
7147285 |
c.516C>G |
p.F172L |
Chr.1:
81943087-81943087
on Build GRCh38
|
7375279 |
c.775G>T |
p.G259* |
Chr.1:
81943346-81943346
on Build GRCh38
|
6702410 |
c.62A>C |
p.E21A |
Chr.1:
81943030-81943030
on Build GRCh38
|
5847366 |
c.235G>A |
p.G79R |
Chr.1:
81943203-81943203
on Build GRCh38
|
5533931 |
c.808G>A |
p.E270K |
Chr.1:
81943379-81943379
on Build GRCh38
|
3805942 |
c.805G>A |
p.D269N |
Chr.1:
81943364-81943364
on Build GRCh38
|
5456665 |
c.689C>T |
p.T230M |
Chr.1:
81943248-81943248
on Build GRCh38
|
141857 |
c.529C>T |
p.P177S |
Chr.1:
81943100-81943100
on Build GRCh38
|
4010100 |
c.808G>T |
p.E270* |
Chr.1:
81943379-81943379
on Build GRCh38
|
4609994 |
c.796C>A |
p.L266I |
Chr.1:
81943367-81943367
on Build GRCh38
|
4566835 |
c.495_496GG>AA |
p.D166N |
Chr.1:
81943054-81943055
on Build GRCh38
|
912462 |
c.540C>T |
p.T180T |
Chr.1:
81943111-81943111
on Build GRCh38
|
4010101 |
c.820G>T |
p.E274* |
Chr.1:
81943379-81943379
on Build GRCh38
|
6064216 |
c.509T>C |
p.I170T |
Chr.1:
81943080-81943080
on Build GRCh38
|
6064218 |
c.521T>C |
p.I174T |
Chr.1:
81943080-81943080
on Build GRCh38
|
5591676 |
c.229G>A |
p.G77S |
Chr.1:
81943197-81943197
on Build GRCh38
|
3997676 |
c.792C>T |
p.I264I |
Chr.1:
81943363-81943363
on Build GRCh38
|
5751412 |
c.467_468insT |
p.A158fs*12 |
Chr.1:
81943038-81943039
on Build GRCh38
|
6064212 |
c.541G>A |
p.D181N |
Chr.1:
81943112-81943112
on Build GRCh38
|
6064214 |
c.553G>A |
p.D185N |
Chr.1:
81943112-81943112
on Build GRCh38
|
5847365 |
c.644G>A |
p.G215E |
Chr.1:
81943203-81943203
on Build GRCh38
|
3492687 |
c.576C>T |
p.F192F |
Chr.1:
81943147-81943147
on Build GRCh38
|
5847367 |
c.632G>A |
p.G211E |
Chr.1:
81943203-81943203
on Build GRCh38
|
3492698 |
c.680G>A |
p.R227K |
Chr.1:
81943251-81943251
on Build GRCh38
|
6448161 |
c.598A>G |
p.T200A |
Chr.1:
81943169-81943169
on Build GRCh38
|
4566836 |
c.483_484GG>AA |
p.D162N |
Chr.1:
81943054-81943055
on Build GRCh38
|
4241811 |
c.479G>A |
p.C160Y |
Chr.1:
81943050-81943050
on Build GRCh38
|
6190421 |
c.330G>A |
p.E110E |
Chr.1:
81943298-81943298
on Build GRCh38
|
2243092 |
c.793G>T |
p.D265Y |
Chr.1:
81943364-81943364
on Build GRCh38
|
5533932 |
c.820G>A |
p.E274K |
Chr.1:
81943379-81943379
on Build GRCh38
|
1344472 |
c.449A>G |
p.Y150C |
Chr.1:
81943020-81943020
on Build GRCh38
|
1158468 |
c.814G>A |
p.G272S |
Chr.1:
81943385-81943385
on Build GRCh38
|
4495792 |
c.460C>T |
p.Q154* |
Chr.1:
81943031-81943031
on Build GRCh38
|
6488702 |
c.599G>T |
p.R200L |
Chr.1:
81943158-81943158
on Build GRCh38
|
6127506 |
c.519G>T |
p.M173I |
Chr.1:
81943090-81943090
on Build GRCh38
|
6127508 |
c.531G>T |
p.M177I |
Chr.1:
81943090-81943090
on Build GRCh38
|
6127504 |
c.764A>T |
p.H255L |
Chr.1:
81943323-81943323
on Build GRCh38
|
6127502 |
c.752A>T |
p.H251L |
Chr.1:
81943323-81943323
on Build GRCh38
|
3492680 |
c.457G>A |
p.E153K |
Chr.1:
81943028-81943028
on Build GRCh38
|
4166747 |
c.736G>A |
p.E246K |
Chr.1:
81943295-81943295
on Build GRCh38
|
6190422 |
c.727G>A |
p.A243T |
Chr.1:
81943298-81943298
on Build GRCh38
|
3492693 |
c.651G>A |
p.V217V |
Chr.1:
81943210-81943210
on Build GRCh38
|
5456663 |
c.677C>T |
p.T226M |
Chr.1:
81943248-81943248
on Build GRCh38
|
912464 |
c.616C>A |
p.R206R |
Chr.1:
81943187-81943187
on Build GRCh38
|
3805941 |
c.793G>A |
p.D265N |
Chr.1:
81943364-81943364
on Build GRCh38
|
5847361 |
c.99G>A |
p.Q33Q |
Chr.1:
81943067-81943067
on Build GRCh38
|
345097 |
c.640G>T |
p.V214L |
Chr.1:
81943211-81943211
on Build GRCh38
|
4972780 |
c.773G>C |
p.W258S |
Chr.1:
81943344-81943344
on Build GRCh38
|
5343106 |
c.415A>T |
p.T139S |
Chr.1:
81942986-81942986
on Build GRCh38
|
141860 |
c.563C>T |
p.S188F |
Chr.1:
81943134-81943134
on Build GRCh38
|
912460 |
c.510T>G |
p.I170M |
Chr.1:
81943081-81943081
on Build GRCh38
|
4609990 |
c.796C>A |
p.L266I |
Chr.1:
81943367-81943367
on Build GRCh38
|
6190419 |
c.727G>A |
p.A243T |
Chr.1:
81943298-81943298
on Build GRCh38
|
6448163 |
c.201A>G |
p.T67T |
Chr.1:
81943169-81943169
on Build GRCh38
|
6064208 |
c.793G>C |
p.D265H |
Chr.1:
81943364-81943364
on Build GRCh38
|
6064210 |
c.805G>C |
p.D269H |
Chr.1:
81943364-81943364
on Build GRCh38
|
3492679 |
c.457G>A |
p.E153K |
Chr.1:
81943028-81943028
on Build GRCh38
|
5847360 |
c.508G>A |
p.A170T |
Chr.1:
81943067-81943067
on Build GRCh38
|
6527674 |
c.566T>C |
p.L189S |
Chr.1:
81943137-81943137
on Build GRCh38
|
5847368 |
c.758C>T |
p.T253I |
Chr.1:
81943329-81943329
on Build GRCh38
|
5847362 |
c.496G>A |
p.A166T |
Chr.1:
81943067-81943067
on Build GRCh38
|
3492694 |
c.639G>A |
p.V213V |
Chr.1:
81943210-81943210
on Build GRCh38
|
4822551 |
c.646G>A |
p.D216N |
Chr.1:
81943217-81943217
on Build GRCh38
|
426733 |
c.760T>C |
p.S254P |
Chr.1:
81943331-81943331
on Build GRCh38
|
7147288 |
c.516C>G |
p.F172L |
Chr.1:
81943087-81943087
on Build GRCh38
|
345096 |
c.640G>T |
p.V214L |
Chr.1:
81943211-81943211
on Build GRCh38
|
2243090 |
c.785C>T |
p.T262I |
Chr.1:
81943356-81943356
on Build GRCh38
|
7175591 |
c.505C>G |
p.Q169E |
Chr.1:
81943064-81943064
on Build GRCh38
|
4698460 |
c.652G>T |
p.A218S |
Chr.1:
81943223-81943223
on Build GRCh38
|
1126940 |
c.749A>G |
p.Y250C |
Chr.1:
81943320-81943320
on Build GRCh38
|