c.2293G>A
p.Asp765Asn
g.51958373C>T
rs28942075
exon8
TM4
Missense
Damaging (0.001)
Probably damaging (1.000)
Pathogenic
c.2293G>C
p.Asp765His
g.51958373C>G
rs28942075
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2293G>T
p.Asp765Tyr
g.51958373C>A
rs28942075
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2292C>G
p.Phe764Leu
g.51958374G>C
rs372979339
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2292C>T
p.Phe764Phe
g.51958374G>A
rs372979339
exon8
TM4
Silent
n.a
n.a
Likely benign
c.2292_2312del
p.765_771delDF
g.51958354_51958374del
n.a
exon8
TM4
Inframe deletion
n.a
n.a
Likely pathogenic
c.2289C>T
p.Phe763Phe
g.51958377G>A
rs186097711
exon8
TM4
Silent
n.a
n.a
Likely benign
c.2288T>A
p.Phe763Tyr
g.51958378A>T
n.a
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2287T>C
p.Phe763Leu
g.51958379A>G
n.a
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2286A>G
p.Thr762Thr
g.51958380T>C
rs750477816
exon8
TM3/TM4
Silent
n.a
n.a
Likely benign
c.2286dupA
p.Phe763Ilefs*32
g.51958380dup
n.a
exon8
TM4
Frameshift
n.a
n.a
Pathogenic
c.2280_2301del
p.Val761Profs*39
g.51958365_51958386del
rs1958493213
exon8
TM4
Frameshift
n.a
n.a
Pathogenic
c.2279C>T
p.Pro760Leu
g.51958387G>A
rs766907687
exon8
TM3/TM4
Missense
/
Probably damaging (1.000)
Pathogenic
c.2278C>T
p.Pro760Ser
g.51958388G>A
n.a
exon8
TM3/TM4
Missense
Damaging (0.002)
Probably damaging (1.000)
Likely pathogenic
c.2276G>A
p.Ser759Asn
g.51958390C>T
n.a
exon8
TM3/TM4
Missense
Tolerated (0.378)
Possibly damaging (0.709)
Likely pathogenic
c.2272A>G
p.Arg758Gly
g.51958394T>C
rs754314807
exon8
TM3/TM4
Missense
/
Benign(0.000)
Uncertain significance
c.2268G>A
p.Ala756Ala
g.51958398C>T
rs755387536
exon8
TM3/TM4
Silent
n.a
n.a
Likely benign
c.2267C>G
p.Ala756Gly
g.51958399G>C
rs769927137
exon8
TM3/TM4
Missense
Tolerated (0.051)
Probably damaging (1.000)
Likely pathogenic
c.2267C>T
p.Ala756Val
g.51958399G>A
rs769927137
exon8
TM3/TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2265G>A
p.Lys755Lys
g.51958401C>T
n.a
exon8
TM3/TM4
Silent
n.a
n.a
Likely benign
c.2264A>G
p.Lys755Arg
g.51958402T>C
n.a
exon8
TM3/TM4
Missense
/
Benign(0.003)
Uncertain significance
c.2262G>A
p.Glu754Glu
g.51958404C>T
n.a
exon8
TM3/TM4
Silent
n.a
n.a
Likely benign
c.2261A>G
p.Glu754Gly
g.51958405T>C
n.a
exon8
TM3/TM4
Missense
Tolerated (0.076)
Probably damaging (0.998)
Likely pathogenic
c.2260G>C
p.Glu754Gln
g.51958406C>G
n.a
exon8
TM3/TM4
Missense
Tolerated (0.157)
Probably damaging (0.974)
Likely pathogenic
c.2258dupC
p.Glu754*
g.51958408dup
n.a
exon8
TM3/TM4
Nonsense
n.a
n.a
Pathogenic
c.2256G>A
p.Val752Val
g.51958410C>T
n.a
exon8
TM3/TM4
Silent
n.a
n.a
Likely benign
c.2255T>G
p.Val752Gly
g.51958411A>C
rs1202332838
exon8
TM3/TM4
Missense
Damaging (0.000)
Benign(0.449)
Likely pathogenic
c.2252C>A
p.Ala751Asp
g.51958414G>T
rs1346813000
exon8
TM3/TM4
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2251G>T
p.Ala751Ser
g.51958415C>A
rs1555291181
exon8
TM3/TM4
Missense
/
Probably damaging (0.995)
Likely pathogenic
c.2246T>A
p.Val749Glu
g.51958420A>T
n.a
exon8
TM3
Missense
/
Possibly damaging(0.955)
Likely pathogenic
L619160335 (Embase)
c.2246T>G
p.Val749Gly
g.51958420A>C
n.a
exon8
TM3
Missense
/
Possibly damaging(0.749)
Likely pathogenic
c.2239A>T
p.Ile747Phe
g.51958427T>A
rs1441513081
exon8
TM3
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.2234T>C
p.Leu745Pro
g.51958432A>G
rs1362773192
exon8
TM3
Missense
/
Probably damaging (0.985)
Likely pathogenic
c.2233C>A
p.Leu745Met
g.51958433G>T
rs1451014044
exon8
TM3
Missense
/
Possibly damaging(0.955)
Likely pathogenic
c.2231C>T
p.Ser744Phe
g.51958435G>A
rs1958498953
exon8
TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2230T>A
p.Ser744Thr
g.51958436A>T
rs1593726081
exon8
TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2230T>C
p.Ser744Pro
g.51958436A>G
rs1593726081
exon8
TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2230T>G
p.Ser744Ala
g.51958436A>C
rs1593726081
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2228A>G
p.Tyr743Cys
g.51958438T>C
n.a
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2227delT
p.Tyr743Ilefs*19
g.51958439del
rs1958499462
exon8
TM3
Frameshift
n.a
n.a
Pathogenic
c.2224_2225insA
p.Val742Aspfs*13
g.51958441_51958442insT
n.a
exon8
TM3
Frameshift
n.a
n.a
Pathogenic
c.2224G>A
p.Val742Ile
g.51958442C>T
n.a
exon8
TM3
Missense
/
/
Uncertain significance
c.2223T>A
p.Tyr741*
g.51958443A>T
rs1958499640
exon8
TM3
Nonsense
n.a
n.a
Pathogenic
c.2222A>G
p.Tyr741Cys
g.51958444T>C
rs770533110
exon8
TM3
Missense
/
Probably damaging (1.000)
Pathogenic
c.2212_2213delinsCA
p.Ser738His
g.51958453_51958454delinsTG
n.a
exon8
TM3
Missense
/
Probably damaging (0.994)
Likely pathogenic
c.2210C>G
p.Thr737Arg
g.51958456G>C
n.a
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2210C>T
p.Thr737Ile
g.51958456G>A
n.a
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2207C>T
p.Ala736Val
g.51958459G>A
n.a
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2204T>G
p.Leu735Arg
g.51958462A>C
n.a
exon8
TM3
Missense
Damaging(0.000)
Probably damaging (1.000)
Likely pathogenic
c.2203_2231del
p.Leu735Serfs*10
g.51958435_51958463del
n.a
exon8
TM3
Frameshift
n.a
n.a
Pathogenic
