x

1 Mutation

1. N32N

x

1 Mutation

1. R35Q

x

2 Mutations View Table

1. D40del (delGAC)
2. D40del (delACG)

x

1 Mutation

1. E69D

x

1 Mutation

1. A79V

x

1 Mutation

1. V82L

x

2 Mutations View Table

1. I83_M84del (DellM)
2. I83T

x

1 Mutation

1. I83_M84del (DellM)

x

1 Mutation

1. L85P

x

1 Mutation

1. V89L (G>T)
2. V89L (G>C)

x

1 Mutation

1. C92S

x

1 Mutation

1. V94M

x

1 Mutation

1. V96F

x

1 Mutation

1. V97L

x

1 Mutation

1. T99A

x

4 Mutations View Table

1. F105I
2. F105V
3. F105L
4. F105C

x

1 Mutation

1. R108Q

x

3 Mutations View Table

1. L113Q
2. L113P
3. L113_I114insT

x

1 Mutation

1. L113_I114insT (InsTAC)

x

3 Mutations View Table

1. Y115H
2. Y115D
3. Y115C

x

4 Mutations View Table

1. T116I
2. T116N
3. T116R
4. T116S; P117T

x

1 Mutation

1. E123K

x

1 Mutation

1. Q127_R128del(CAGA);InsG (G)

x

1 Mutation

1. Q127_R128del(CAGA);InsG (G)

x

1 Mutation

1. H131R

x

1 Mutation

1. L134R

x

2 Mutations View Table

1. N135D
2. N135S

x

1 Mutation

1. A136G

x

6 Mutations View Table

1. M139V
2. M139K
3. M139L
4. M139T
5. M139I (G>C)
6. M139I (G>A)

x

5 Mutations View Table

1. I143V
2. I143F
3. I143N
4. I143T
5. I143M

x

5 Mutations View Table

1. M146L (A>C)
2. M146L (A>T)
3. M146V
4. M146I (G>A)
5. M146I (G>C)

x

2 Mutations View Table

1. T147I
2. T147P

x

1 Mutation

1. L150P

x

1 Mutation

1. L153V

x

2 Mutations View Table

1. Y154N
2. Y154C

x

1 Mutation

1. Y156F; Y156_R157insIY

x

1 Mutation

1. Y156F; Y156_R157insIY

x

1 Mutation

1. Y156F; Y156_R157insIY

x

1 Mutation

1. R157S

x

2 Mutations

1. Y159F
2. Y159C

x

3 Mutations View Table

1. H163Y (Pathogenic)
2. H163R (Pathogenic)
3. H163P (Unclear)

x

1 Mutation

1. A164V

x

3 Mutations View Table

1. W165C (G>C)
2. W165C (G>T)
3. W165G

x

5 Mutations View Table

1. L166del
2. L166H
3. L166R
4. L166V
5. L166P

x

2 Mutations

1. I167del (TTAdel)
2. I167del (TATdel)

x

1 Mutation

1. I168T (Unclear)

x

3 Mutations View Table

1. S169del (ΔS169)
2. S169P
3. S169L

x

2 Mutation

1. S170F
2. S170P

x

1 Mutation

1. L171P

x

4 Mutations View Table

1. L173F G>T
2. L173F G>C
3. L173W
4. L173S

x

3 Mutations View Table

1. L174M
2. L174R
3. L174del

x

1 Mutation

1. F175S
2. F175del

x

1 Mutation

1. F176L

x

3 Mutations View Table

1. F177L
2. F177S
3. F177V

x

1 Mutation

1. S178P

x

1 Mutation

1. G183V

x

2 Mutations View Table

1. E184D
2. E184G

x

1 Mutation

1. V191A

x

1 Mutation

1. I202F

x

5 Mutations View Table

1. F205_G206del;insC
2. G206A
3. G206D
4. G206S
5. G206V

x

4 Mutations View Table

1. G209A
2. G209E
3. G209R
4. G209V

x

1 Mutation

1. S212Y

x

3 Mutations View Table

1. I213F
2. I213T
3. I213L

x

4 Mutations View Table

1. H214D
2. H214N
3. H214Y
4. H214R

x

2 Mutations View Table

1. G217R
2. G217D

x

3 Mutations View Table

1. L219F (Pathogenic)
2. L219P (Pathogenic)
3. L219R (Unclear)

x

1 Mutation

1. R220P

x

3 Mutations View Table

1. Q222R
2. Q222H
3. Q222P

x

1 Mutation

1. Q223R

x

2 Mutations View Table

1. L226F
2. L226R

x

1 Mutation

1. I229F

x

3 Mutations View Table

1. S230I
2. S230R
3. S230N

x

3 Mutations View Table

1. A231P
2. A231T
3. A231V

x

6 Mutations View Table

1. M233L (A>C)
2. M233L (A>T)
3. M233V
4. M233T
5. M233I (G>C)
6. M233I (G>A)

x

3 Mutations View Table

1. L235P
2. L235R
3. L235V

x

3 Mutations View Table

1. F237C
2. F237I
3. F237L

x

1 Mutation View Table

1. I238M

x

1 Mutation View Table

1. I238_K239insI

x

1 Mutation

1. K239N

x

1 Mutation

1. T245P

x

2 Mutations View Table

1. A246E
2. A246P

x

2 Mutations View Table

1. L248R
2. L248P

x

3 Mutations View Table

1. L250V
2. L250S
3. L250F

x

2 Mutations

1. Y256S
2. Y256N

x

2 Mutations

1. A260V
2. A260G

x

3 Mutations View Table

1. V261L
2. V261F
3. V261I

x

3 Mutations View Table

1. L262F
2. L262V
3. L262S

x

2 Mutations View Table

1. C263F
2. C263R

x

1 Mutation

1. P264L

x

1 Mutation

1. G266S

x

3 Mutations View Table

1. P267A
2. P267S
3. P267L

x

2 Mutations View Table

1. R269G
2. R269H

x

1 Mutation

1. L271V

x

2 Mutations

1. V272A
2. V272D

x

2 Mutations View Table

1. E273A
2. E273G

x

1 Mutation

1. T274R

x

1 Mutation

1. A275V

x

4 Mutations View Table

1. R278K
2. R278T
3. R278I
4. R278S

x

3 Mutations View Table

1. E280A (Paisa)
2. E280G
3. E280K

x

4 Mutations View Table

1. L282V
2. L282F
3. L282R
4. L282P

x

2 Mutations View Table

1. P284S
2. P284L

x

2 Mutations

1. A285V
2. A285S

x

2 Mutations View Table

1. L286P
2. L286V

x

5 Mutations View Table

1. S290C;T291_S319del (ΔE9Finn)
2. S290C;T291_S319del (ΔE9)
3. PSEN1 S290C;T291_S319del A>G (ΔE9)
4. S290C;T291_S319del G>A (ΔE9)
5. S290C;T291_S319del G>T (ΔE9)
6. S290W;S291_R377del

x

2 Mutations

1. T291P (Pathogenic)
2. T291A (Unclear)

x

1 Mutation

1. E318G

x

1 Mutation

1. D333G

x

1 MutationView Table

1. R352C

x

1 MutationView Table

1. R352_S353insR

x

1 Mutation

1. T354I

x

1 Mutation

1. R358Q

x

2 Mutations View Table

1. S365A
2. S365Y

x

2 Mutations View Table

1. R377M
2. R377W

x

3 Mutations View Table

1. G378E
2. G378V
3. G378FS
4. G378R

x

1 Mutation

1. L381V

x

1 Mutation

1. G384A

x

3 Mutations

1. F386S
2. F386I
3. F386L

x

2 Mutations View Table

1. S390I
2. S390N

x

2 Mutation

1. V391F
2. V391G

x

2 Mutations View Table

1. L392V
2. L392P

x

1 Mutation

1. A396T

x

1 Mutation

1. G394V

x

1 Mutation

1. N405S

x

1 Mutation

1. I408T

x

1 Mutation

1. A409T

x

1 Mutation

1. C410Y

x

1 Mutation

1. V412I

x

1 Mutation

1. L418F

x

1 Mutation

1. L420R

x

5 Mutations View Table

1. L424V
2. L424F
3. L424H
4. L424P
5. L424R

x

1 Mutation

1. A426P

x

1 Mutation

1. A431E

x

2 Mutations View Table

1. A434C
2. A434T

x

1 Mutation

1. L435F

x

1 Mutation

1. I437V

x

2 Mutations View Table

1. P436S
2. P436Q

x

2 Mutations View Table

1. I439V (Unclear)
2. I439S (Pathogenic)

x

1 Mutation

1. T440del

x

2 Mutations

1. P88H
2. P88L

x

2 Mutations

1. V142F
2. V142I

x

1 Mutation

1. L232P

x

2 Mutations

1. M84T
2. M84V

x

1 Mutation

1. I416T

x

2 Mutations

1. G417A
2. G417S

x

1 Mutations

1. F283L

x

1 Mutation

1. S132A

x

1 Mutation

1. K311R

x

2 Mutations

1. G111V
2. G111W

x

1 Mutation

1. I180N

x

1 Mutation

1. F205_G206del;insC

x

1 Mutation

1. F205_G206del;insC

x

1 Mutation

1. M210R

x

1 Mutation

1. L171_ L172insY

x

1 Mutation

1. T122A

x

1 Mutation

1. A137T

x

1 Mutation

1. A360T

x

1 Mutation

1. P433S

x

1 Mutation

1. V393F

x

1 Mutation

1. I249L

x

1 Mutation

1. I227V

x

1 Mutation

1. R41S

x

1 Mutation

1. R42L

x

1 Mutation

1. P303L

x

1 Mutation

1. Q15H

x

1 Mutation

1. N39Y

x

1 Mutation

1. L241R

x

1 Mutation

1. P242Lfs

x

2 Mutations

1. Y389S
2. Y389H

x

1 Mutation

1. W294Ter

x

1 Mutation

1. P355S

x

1 Mutation

1. V103G

x

1 Mutation

1. P49L

x

1 Mutation

1. G371C