4415808 |
c.328A>G |
p.I110V |
Chr.2:
71349282-71349282
on Build GRCh38
|
6300327 |
c.436A>T |
p.S146C |
Chr.2:
71349390-71349390
on Build GRCh38
|
2997310 |
c.291A>T |
p.L97F |
Chr.2:
71348927-71348927
on Build GRCh38
|
5658398 |
c.470T>C |
p.I157T |
Chr.2:
71349106-71349106
on Build GRCh38
|
3991427 |
c.300T>G |
p.H100Q |
Chr.2:
71349254-71349254
on Build GRCh38
|
7106351 |
c.325C>T |
p.H109Y |
Chr.2:
71349279-71349279
on Build GRCh38
|
6996977 |
c.736G>A |
p.A246T |
Chr.2:
71349372-71349372
on Build GRCh38
|
6256577 |
c.510G>T |
p.M170I |
Chr.2:
71349146-71349146
on Build GRCh38
|
6006747 |
c.214C>A |
p.Q72K |
Chr.2:
71349168-71349168
on Build GRCh38
|
3582917 |
c.184C>T |
p.Q62* |
Chr.2:
71349138-71349138
on Build GRCh38
|
1669017 |
c.800C>T |
p.P267L |
Chr.2:
71349436-71349436
on Build GRCh38
|
6300325 |
c.436A>T |
p.S146C |
Chr.2:
71349390-71349390
on Build GRCh38
|
5397308 |
c.475C>T |
p.R159C |
Chr.2:
71349429-71349429
on Build GRCh38
|
1196964 |
c.482C>T |
p.P161L |
Chr.2:
71349436-71349436
on Build GRCh38
|
1022620 |
c.53G>A |
p.R18Q |
Chr.2:
71349007-71349007
on Build GRCh38
|
6831934 |
c.24T>C |
p.P8P |
Chr.2:
71348978-71348978
on Build GRCh38
|
6831962 |
c.485C>A |
p.A162D |
Chr.2:
71349121-71349121
on Build GRCh38
|
3582912 |
c.398C>T |
p.P133L |
Chr.2:
71349034-71349034
on Build GRCh38
|
1647325 |
c.545A>T |
p.H182L |
Chr.2:
71349181-71349181
on Build GRCh38
|
3582911 |
c.80C>T |
p.P27L |
Chr.2:
71349034-71349034
on Build GRCh38
|
3582918 |
c.502C>T |
p.Q168* |
Chr.2:
71349138-71349138
on Build GRCh38
|
6256576 |
c.192G>T |
p.M64I |
Chr.2:
71349146-71349146
on Build GRCh38
|
6996978 |
c.418G>A |
p.A140T |
Chr.2:
71349372-71349372
on Build GRCh38
|
6831979 |
c.757T>G |
p.F253V |
Chr.2:
71349393-71349393
on Build GRCh38
|
5862783 |
c.82C>T |
p.P28S |
Chr.2:
71349036-71349036
on Build GRCh38
|
3407958 |
c.183T>C |
p.Y61Y |
Chr.2:
71349137-71349137
on Build GRCh38
|
4141225 |
c.447C>T |
p.Y149Y |
Chr.2:
71349083-71349083
on Build GRCh38
|
6831954 |
c.539C>G |
p.T180S |
Chr.2:
71349175-71349175
on Build GRCh38
|
3407959 |
c.501T>C |
p.Y167Y |
Chr.2:
71349137-71349137
on Build GRCh38
|
5862784 |
c.400C>T |
p.P134S |
Chr.2:
71349036-71349036
on Build GRCh38
|
5803240 |
c.222T>C |
p.T74T |
Chr.2:
71349176-71349176
on Build GRCh38
|
4141226 |
c.129C>T |
p.Y43Y |
Chr.2:
71349083-71349083
on Build GRCh38
|
5803242 |
c.222T>C |
p.T74T |
Chr.2:
71349176-71349176
on Build GRCh38
|
7260561 |
c.399T>C |
p.P133P |
Chr.2:
71349035-71349035
on Build GRCh38
|
3582922 |
c.474T>C |
p.S158S |
Chr.2:
71349428-71349428
on Build GRCh38
|
4314974 |
c.482C>T |
p.P161L |
Chr.2:
71349436-71349436
on Build GRCh38
|
5862785 |
c.82C>T |
p.P28S |
Chr.2:
71349036-71349036
on Build GRCh38
|
6831935 |
c.342T>C |
p.P114P |
Chr.2:
71348978-71348978
on Build GRCh38
|
7325623 |
c.411_412delAG |
p.S139fs*12 |
Chr.2:
71349365-71349366
on Build GRCh38
|
6489667 |
c.177A>G |
p.E59E |
Chr.2:
71349131-71349131
on Build GRCh38
|
4095424 |
c.794G>A |
p.R265H |
Chr.2:
71349430-71349430
on Build GRCh38
|
5766720 |
c.65C>T |
p.P22L |
Chr.2:
71349019-71349019
on Build GRCh38
|
5803241 |
c.540T>C |
p.T180T |
Chr.2:
71349176-71349176
on Build GRCh38
|
3582916 |
c.115C>T |
p.L39F |
Chr.2:
71349069-71349069
on Build GRCh38
|
5658399 |
c.152T>C |
p.I51T |
Chr.2:
71349106-71349106
on Build GRCh38
|
4095420 |
c.400C>T |
p.R134C |
Chr.2:
71349354-71349354
on Build GRCh38
|
4095425 |
c.476G>A |
p.R159H |
Chr.2:
71349430-71349430
on Build GRCh38
|
6831961 |
c.167C>A |
p.A56D |
Chr.2:
71349121-71349121
on Build GRCh38
|
316870 |
c.152T>C |
p.I51T |
Chr.2:
71349106-71349106
on Build GRCh38
|
214033 |
c.262G>T |
p.D88Y |
Chr.2:
71349216-71349216
on Build GRCh38
|
7106349 |
c.325C>T |
p.H109Y |
Chr.2:
71349279-71349279
on Build GRCh38
|
7260560 |
c.81T>C |
p.P27P |
Chr.2:
71349035-71349035
on Build GRCh38
|
6831953 |
c.221C>G |
p.T74S |
Chr.2:
71349175-71349175
on Build GRCh38
|
5397306 |
c.475C>T |
p.R159C |
Chr.2:
71349429-71349429
on Build GRCh38
|
7106350 |
c.643C>T |
p.H215Y |
Chr.2:
71349279-71349279
on Build GRCh38
|
3991425 |
c.300T>G |
p.H100Q |
Chr.2:
71349254-71349254
on Build GRCh38
|
6256578 |
c.192G>T |
p.M64I |
Chr.2:
71349146-71349146
on Build GRCh38
|
6300326 |
c.754A>T |
p.S252C |
Chr.2:
71349390-71349390
on Build GRCh38
|
2997308 |
c.264A>C |
p.S88S |
Chr.2:
71348900-71348900
on Build GRCh38
|
7136598 |
c.268C>A |
p.H90N |
Chr.2:
71349222-71349222
on Build GRCh38
|
721935 |
c.227A>T |
p.H76L |
Chr.2:
71349181-71349181
on Build GRCh38
|
4415810 |
c.328A>G |
p.I110V |
Chr.2:
71349282-71349282
on Build GRCh38
|
6006749 |
c.214C>A |
p.Q72K |
Chr.2:
71349168-71349168
on Build GRCh38
|
4415809 |
c.646A>G |
p.I216V |
Chr.2:
71349282-71349282
on Build GRCh38
|
3582914 |
c.115C>T |
p.L39F |
Chr.2:
71349069-71349069
on Build GRCh38
|
4141224 |
c.129C>T |
p.Y43Y |
Chr.2:
71349083-71349083
on Build GRCh38
|
6996976 |
c.418G>A |
p.A140T |
Chr.2:
71349372-71349372
on Build GRCh38
|
5973849 |
c.84A>G |
p.P28P |
Chr.2:
71349038-71349038
on Build GRCh38
|
3582920 |
c.474T>C |
p.S158S |
Chr.2:
71349428-71349428
on Build GRCh38
|
5397307 |
c.793C>T |
p.R265C |
Chr.2:
71349429-71349429
on Build GRCh38
|
3582915 |
c.433C>T |
p.L145F |
Chr.2:
71349069-71349069
on Build GRCh38
|
5973850 |
c.402A>G |
p.P134P |
Chr.2:
71349038-71349038
on Build GRCh38
|
3582921 |
c.792T>C |
p.S264S |
Chr.2:
71349428-71349428
on Build GRCh38
|
6006748 |
c.532C>A |
p.Q178K |
Chr.2:
71349168-71349168
on Build GRCh38
|
5973851 |
c.84A>G |
p.P28P |
Chr.2:
71349038-71349038
on Build GRCh38
|
6831963 |
c.167C>A |
p.A56D |
Chr.2:
71349121-71349121
on Build GRCh38
|
6831980 |
c.439T>G |
p.F147V |
Chr.2:
71349393-71349393
on Build GRCh38
|
7325624 |
c.729_730delAG |
p.S245fs*12 |
Chr.2:
71349365-71349366
on Build GRCh38
|
6831978 |
c.439T>G |
p.F147V |
Chr.2:
71349393-71349393
on Build GRCh38
|
6831955 |
c.221C>G |
p.T74S |
Chr.2:
71349175-71349175
on Build GRCh38
|
3582913 |
c.80C>T |
p.P27L |
Chr.2:
71349034-71349034
on Build GRCh38
|
3991426 |
c.618T>G |
p.H206Q |
Chr.2:
71349254-71349254
on Build GRCh38
|
5766719 |
c.383C>T |
p.P128L |
Chr.2:
71349019-71349019
on Build GRCh38
|
3582919 |
c.184C>T |
p.Q62* |
Chr.2:
71349138-71349138
on Build GRCh38
|
6489666 |
c.495A>G |
p.E165E |
Chr.2:
71349131-71349131
on Build GRCh38
|
6831936 |
c.24T>C |
p.P8P |
Chr.2:
71348978-71348978
on Build GRCh38
|
7136596 |
c.268C>A |
p.H90N |
Chr.2:
71349222-71349222
on Build GRCh38
|
4095421 |
c.718C>T |
p.R240C |
Chr.2:
71349354-71349354
on Build GRCh38
|
5766718 |
c.65C>T |
p.P22L |
Chr.2:
71349019-71349019
on Build GRCh38
|
7325625 |
c.411_412delAG |
p.S139fs*12 |
Chr.2:
71349365-71349366
on Build GRCh38
|
3407960 |
c.183T>C |
p.Y61Y |
Chr.2:
71349137-71349137
on Build GRCh38
|
4095422 |
c.400C>T |
p.R134C |
Chr.2:
71349354-71349354
on Build GRCh38
|
7136597 |
c.586C>A |
p.H196N |
Chr.2:
71349222-71349222
on Build GRCh38
|
4095423 |
c.476G>A |
p.R159H |
Chr.2:
71349430-71349430
on Build GRCh38
|
6489665 |
c.177A>G |
p.E59E |
Chr.2:
71349131-71349131
on Build GRCh38
|
7260562 |
c.81T>C |
p.P27P |
Chr.2:
71349035-71349035
on Build GRCh38
|