1724743 |
c.455C>T |
p.S152L |
Chr.1:
196984090-196984090
on Build GRCh38
|
6339468 |
c.377T>A |
p.L126Q |
Chr.1:
196984012-196984012
on Build GRCh38
|
5379018 |
c.254-1G>A |
p.? |
Chr.1:
196983960-196983960
on Build GRCh38
|
4026554 |
c.372G>T |
p.E124D |
Chr.1:
196984079-196984079
on Build GRCh38
|
7135723 |
c.430C>A |
p.L144I |
Chr.1:
196984065-196984065
on Build GRCh38
|
1500631 |
c.331C>A |
p.Q111K |
Chr.1:
196984038-196984038
on Build GRCh38
|
6291867 |
c.447A>C |
p.K149N |
Chr.1:
196984082-196984082
on Build GRCh38
|
216995 |
c.328G>A |
p.V110I |
Chr.1:
196984035-196984035
on Build GRCh38
|
2125084 |
c.474G>T |
p.W158C |
Chr.1:
196984109-196984109
on Build GRCh38
|
5144138 |
c.339T>C |
p.F113F |
Chr.1:
196983974-196983974
on Build GRCh38
|
6397588 |
c.395A>G |
p.D132G |
Chr.1:
196984030-196984030
on Build GRCh38
|
5590186 |
c.468G>A |
p.R156R |
Chr.1:
196984103-196984103
on Build GRCh38
|
6123873 |
c.357_358CC>AA |
p.S119_L120>RI |
Chr.1:
196984064-196984065
on Build GRCh38
|
3966156 |
c.482C>T |
p.P161L |
Chr.1:
196984117-196984117
on Build GRCh38
|
6363290 |
c.386T>C |
p.L129P |
Chr.1:
196984021-196984021
on Build GRCh38
|
4517751 |
c.409_410CC>TT |
p.P137F |
Chr.1:
196984116-196984117
on Build GRCh38
|
3480933 |
c.341C>T |
p.P114L |
Chr.1:
196983976-196983976
on Build GRCh38
|
7198823 |
c.258G>A |
p.M86I |
Chr.1:
196983965-196983965
on Build GRCh38
|
6627550 |
c.419C>G |
p.T140R |
Chr.1:
196984054-196984054
on Build GRCh38
|
3480938 |
c.379A>T |
p.I127F |
Chr.1:
196984086-196984086
on Build GRCh38
|
5698110 |
c.310C>A |
p.H104N |
Chr.1:
196984017-196984017
on Build GRCh38
|
4546241 |
c.395G>A |
p.R132Q |
Chr.1:
196984102-196984102
on Build GRCh38
|
3480941 |
c.473G>A |
p.W158* |
Chr.1:
196984108-196984108
on Build GRCh38
|
3480937 |
c.394G>A |
p.D132N |
Chr.1:
196984029-196984029
on Build GRCh38
|
6397587 |
c.323A>G |
p.D108G |
Chr.1:
196984030-196984030
on Build GRCh38
|
5379019 |
c.326-1G>A |
p.? |
Chr.1:
196983960-196983960
on Build GRCh38
|
5698111 |
c.382C>A |
p.H128N |
Chr.1:
196984017-196984017
on Build GRCh38
|
4671853 |
c.458G>T |
p.C153F |
Chr.1:
196984093-196984093
on Build GRCh38
|
6363289 |
c.314T>C |
p.L105P |
Chr.1:
196984021-196984021
on Build GRCh38
|
3480934 |
c.276G>A |
p.V92V |
Chr.1:
196983983-196983983
on Build GRCh38
|
2125083 |
c.402G>T |
p.W134C |
Chr.1:
196984109-196984109
on Build GRCh38
|
3480930 |
c.263C>T |
p.S88F |
Chr.1:
196983970-196983970
on Build GRCh38
|
6060774 |
c.476C>A |
p.S159Y |
Chr.1:
196984111-196984111
on Build GRCh38
|
4671852 |
c.386G>T |
p.C129F |
Chr.1:
196984093-196984093
on Build GRCh38
|
1689498 |
c.409C>T |
p.P137S |
Chr.1:
196984116-196984116
on Build GRCh38
|
1646065 |
c.492C>T |
p.C164C |
Chr.1:
196984127-196984127
on Build GRCh38
|
6339467 |
c.305T>A |
p.L102Q |
Chr.1:
196984012-196984012
on Build GRCh38
|
4589634 |
c.348_349insA |
p.N118fs*5 |
Chr.1:
196983983-196983984
on Build GRCh38
|
6291866 |
c.375A>C |
p.K125N |
Chr.1:
196984082-196984082
on Build GRCh38
|
678384 |
c.420C>T |
p.C140C |
Chr.1:
196984127-196984127
on Build GRCh38
|
6305534 |
c.456G>T |
p.S152S |
Chr.1:
196984091-196984091
on Build GRCh38
|
7198824 |
c.330G>A |
p.M110I |
Chr.1:
196983965-196983965
on Build GRCh38
|
5881604 |
c.463G>C |
p.E155Q |
Chr.1:
196984098-196984098
on Build GRCh38
|
5718347 |
c.261T>C |
p.C87C |
Chr.1:
196983968-196983968
on Build GRCh38
|
4517752 |
c.481_482CC>TT |
p.P161F |
Chr.1:
196984116-196984117
on Build GRCh38
|
6060773 |
c.404C>A |
p.S135Y |
Chr.1:
196984111-196984111
on Build GRCh38
|
4026555 |
c.444G>T |
p.E148D |
Chr.1:
196984079-196984079
on Build GRCh38
|
4589633 |
c.276_277insA |
p.N94fs*5 |
Chr.1:
196983983-196983984
on Build GRCh38
|
6362185 |
c.391G>T |
p.G131C |
Chr.1:
196984026-196984026
on Build GRCh38
|
4546242 |
c.467G>A |
p.R156Q |
Chr.1:
196984102-196984102
on Build GRCh38
|
901602 |
c.383C>T |
p.S128L |
Chr.1:
196984090-196984090
on Build GRCh38
|
2125080 |
c.403C>A |
p.Q135K |
Chr.1:
196984038-196984038
on Build GRCh38
|
6627549 |
c.347C>G |
p.T116R |
Chr.1:
196984054-196984054
on Build GRCh38
|
3480931 |
c.335C>T |
p.S112F |
Chr.1:
196983970-196983970
on Build GRCh38
|
6123874 |
c.429_430CC>AA |
p.S143_L144>RI |
Chr.1:
196984064-196984065
on Build GRCh38
|
3480940 |
c.401G>A |
p.W134* |
Chr.1:
196984108-196984108
on Build GRCh38
|
5635834 |
c.314T>A |
p.L105Q |
Chr.1:
196984021-196984021
on Build GRCh38
|
3480936 |
c.322G>A |
p.D108N |
Chr.1:
196984029-196984029
on Build GRCh38
|
5616682 |
c.315G>T |
p.L105L |
Chr.1:
196984022-196984022
on Build GRCh38
|
3480939 |
c.451A>T |
p.I151F |
Chr.1:
196984086-196984086
on Build GRCh38
|
7361046 |
c.406A>T |
p.T136S |
Chr.1:
196984113-196984113
on Build GRCh38
|
3966155 |
c.410C>T |
p.P137L |
Chr.1:
196984117-196984117
on Build GRCh38
|
3480935 |
c.348G>A |
p.V116V |
Chr.1:
196983983-196983983
on Build GRCh38
|
5844975 |
c.362C>T |
p.S121F |
Chr.1:
196983997-196983997
on Build GRCh38
|
5718348 |
c.333T>C |
p.C111C |
Chr.1:
196983968-196983968
on Build GRCh38
|
6362184 |
c.319G>T |
p.G107C |
Chr.1:
196984026-196984026
on Build GRCh38
|
7135722 |
c.358C>A |
p.L120I |
Chr.1:
196984065-196984065
on Build GRCh38
|
1689499 |
c.481C>T |
p.P161S |
Chr.1:
196984116-196984116
on Build GRCh38
|
3480932 |
c.269C>T |
p.P90L |
Chr.1:
196983976-196983976
on Build GRCh38
|
1337523 |
c.267T>C |
p.F89F |
Chr.1:
196983974-196983974
on Build GRCh38
|
5590185 |
c.396G>A |
p.R132R |
Chr.1:
196984103-196984103
on Build GRCh38
|
5635835 |
c.386T>A |
p.L129Q |
Chr.1:
196984021-196984021
on Build GRCh38
|
7361047 |
c.478A>T |
p.T160S |
Chr.1:
196984113-196984113
on Build GRCh38
|
5844974 |
c.290C>T |
p.S97F |
Chr.1:
196983997-196983997
on Build GRCh38
|
4622365 |
c.377A>G |
p.N126S |
Chr.1:
196984084-196984084
on Build GRCh38
|
5616683 |
c.387G>T |
p.L129L |
Chr.1:
196984022-196984022
on Build GRCh38
|
288939 |
c.391G>T |
p.E131* |
Chr.1:
196984098-196984098
on Build GRCh38
|
5881603 |
c.391G>C |
p.E131Q |
Chr.1:
196984098-196984098
on Build GRCh38
|
4622366 |
c.449A>G |
p.N150S |
Chr.1:
196984084-196984084
on Build GRCh38
|
6305533 |
c.384G>T |
p.S128S |
Chr.1:
196984091-196984091
on Build GRCh38
|