c.2293G>A
p.Asp765Asn
g.51958373C>T
rs28942075
exon8
TM4
Missense
Damaging (0.001)
Probably damaging (1.000)
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.2289C>T
p.Phe763Phe
g.51958377G>A
rs186097711
exon8
TM4
Silent
n.a
n.a
Likely benign
c.2286A>G
p.Thr762Thr
g.51958380T>C
rs750477816
exon8
TM3/TM4
Silent
n.a
n.a
Likely benign
c.2286dup
p.Phe763Ilefs*32
g.51958380dup
n.a
exon8
TM4
Frameshift
n.a
n.a
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.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.2256G>A
p.Val752Val
g.51958410C>T
n.a
exon8
TM3/TM4
Silent
n.a
n.a
Likely benign
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.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.2227del
p.Tyr743Ilefs*19
g.51958439del
rs1958499462
exon8
TM3
Frameshift
n.a
n.a
Pathogenic
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.2195T>A
p.Leu732His
g.51958471A>T
rs775151065
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2195T>C
p.Leu732Pro
g.51958471A>G
rs775151065
exon8
TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2194C>T
p.Leu732Phe
g.51958472G>A
rs1958502647
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2192T>A
p.Val731Glu
g.51958474A>T
n.a
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2187G>A
p.Met729Ile
g.51958479C>T
n.a
exon8
TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2185A>G
p.Met729Val
g.51958481T>C
rs773447981
exon8
TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.2183A>G
p.Asn728Ser
g.51958483T>C
rs760713333
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2183A>T
p.Asn728Ile
g.51958483T>A
rs760713333
exon8
TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2167A>G
p.Arg723Gly
g.51958499T>C
n.a
exon8
TM2/TM3
Missense
/
Possibly damaging(0.749)
Likely pathogenic
c.2165dupT
p.Arg723Glufs*32
g.51958501dup
rs768729972
exon8
TM2/TM3
Frameshift
n.a
n.a
Pathogenic
c.2157C>A
p.Tyr719*
g.51958509G>T
rs1057516380
exon8
TM2/TM3
Nonsense
n.a
n.a
Pathogenic
c.2156A>G
p.Tyr719Cys
g.51958510T>C
rs1003203457
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2145C>A
p.Tyr715*
g.51958521G>T
rs751202110
exon8
TM2/TM3
Nonsense
n.a
n.a
Pathogenic
c.2145C>T
p.Tyr715Tyr
g.51958521G>A
rs751202110
exon8
TM2/TM3
Silent
n.a
n.a
Likely benign
c.2142C>G
p.Phe714Leu
g.51958524G>C
n.a
exon8
TM2/TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2141T>A
p.Phe714Tyr
g.51958525A>T
n.a
exon8
TM2/TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2139C>G
p.Tyr713*
g.51958527G>C
n.a
exon8
TM2/TM3
Nonsense
n.a
n.a
Pathogenic
c.2128G>A
p.Gly710Ser
g.51958538C>T
rs137853285
exon8
TM2/TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.2128G>T
p.Gly710Cys
g.51958538C>A
rs137853285
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2122-8T>G
n.a
g.51958552A>C
rs193922102
intron7
TM2
Splicing
n.a
n.a
Pathogenic
c.2122-1G>C
n.a
g.51958545C>G
rs1319653818
intron7
TM2
Splicing
n.a
n.a
Pathogenic
c.2122-1G>T
n.a
g.51958545C>A
rs1319653818
intron7
TM2
Splicing
n.a
n.a
Pathogenic
c.2121+3A>T
n.a
g.51960145T>A
rs1248002612
intron7
TM2
Splicing
n.a
n.a
Likely pathogenic
c.2120A>G
p.Gln707Arg
g.51960149T>C
n.a
exon7
TM2
Missense
Damaging (0.001)
Probably damaging (0.988)
Likely pathogenic
