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
c.2111C>T
p.Thr704Ile
g.51960158G>A
n.a
exon7
TM2
Missense
Tolerated (0.075)
Probably damaging (0.988)
Likely pathogenic
c.2097_2099delCTT
p.Phe700del
g.51960170_51960172del
n.a
exon7
TM2
Inframe deletion
n.a
n.a
Likely pathogenic
c.2078C>G
p.Ser693Cys
g.51960191G>C
rs1212479289
exon7
TM2
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2077T>C
p.Ser693Pro
g.51960192A>G
n.a
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2075T>C
p.Leu692Pro
g.51960194A>G
n.a
exon7
TM2
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2057A>C
p.His686Pro
g.51960212T>G
n.a
exon7
TM1/TM2
Missense
Tolerated (0.183)
Benign (0.323)
Likely pathogenic
c.2043delC
p.Ser681Serfs*15
g.51960226del
n.a
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
c.2038C>T
p.Gln680*
g.51960231G>A
rs1555291848
exon7
TM1/TM2
Nonsense
n.a
n.a
Pathogenic
c.2012dup
p.Met671Ilefs*84
g.51960257dup
n.a
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
c.2009A>G
p.Tyr670Cys
g.51960260T>C
rs767305042
exon7
TM1/TM2
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2009_2012dup
p.Met671Ilefs*85
g.51960257_51960260dup
rs1555291870
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
c.2008_2013del
p.670_671delYM
g.51960256_51960261del
n.a
exon7
TM1/TM2
Inframe deletion
n.a
n.a
Likely pathogenic
c.2004G>C
p.Met668Ile
g.51960265C>G
n.a
exon7
TM1/TM2
Missense
/
Probably damaging (0.996)
Likely pathogenic
c.1994T>G
p.Met665Arg
g.51960275A>C
rs182653713
exon7
TM1
Missense
/
Probably damaging (0.978)
Likely pathogenic
c.1988C>G
p.Pro663Arg
g.51960281G>C
n.a
exon7
TM1
Missense
Damaging (0.010)
Possibly damaging (0.947)
Likely pathogenic
c.1976T>A
p.Val659Glu
g.51960293A>T
rs1958645176
exon7
TM1
Missense
/
Probably damaging (0.995)
Likely pathogenic
L71236428 (Embase)
c.1968C>A
p.Cys656*
g.51960301G>T
n.a
exon7
TM1
Nonsense
n.a
n.a
Pathogenic
c.1950G>A
p.Trp650*
g.51960319C>T
n.a
exon7
TM1
Nonsense
n.a
n.a
Pathogenic
c.1947-16T>A
n.a
g.51960338A>T
n.a
intron6
TM1
/
n.a
n.a
Uncertain significance
c.1947-2A>C
n.a
g.51960324T>C
n.a
intron6
TM1
Splicing
n.a
n.a
Pathogenic
c.1947_1959del
p.Gln649Hisfs*16
g.51960310_51960322del
n.a
exon7
TM1
Frameshift
n.a
n.a
Pathogenic
c.1946+1G>A
n.a
g.51961836C>T
n.a
intron6
TM1
Splicing
n.a
n.a
Pathogenic
c.1946+5G>A
n.a
g.51961832C>T
n.a
intron6
TM1
Splicing
n.a
n.a
Uncertain significance
c.1946+9A>G
n.a
g.51961828T>C
n.a
intron6
TM1
Splicing
n.a
n.a
Uncertain significance
c.1932G>A
p.Lys644Lys
g.51961851C>T
n.a
exon6
TM1
Silent
n.a
n.a
Likely benign
c.1925A>G
p.Asp642Gly
g.51961858T>C
n.a
exon6
TM1
Missense
/
Probably damaging (0.996)
Likely pathogenic
c.1910delA
p.Asn637Thrfs*11
g.51961873del
n.a
exon6
TM1
Frameshift
n.a
n.a
Pathogenic
c.1908dupC
p.Asn637Glnfs*118
g.51961875dup
n.a
/
TM1
Frameshift
n.a
n.a
Pathogenic
c.1901G>A
p.Arg634Lys
g.51961882C>T
rs373585491
exon6
TM1
Missense
Tolerated (0.909)
Benign (0.001)
Uncertain significance
c.1900A>G
p.Arg634Gly
g.51961883T>C
n.a
exon6
TM1
Missense
Damaging (0.011)
Benign (0.038)
Likely pathogenic
c.1875T>A
p.Ile625Ile
g.51961908A>T
rs756958229
exon6
MBD6/TM1
Silent/Splicing
n.a
n.a
Likely benign
c.1872_1875dup
p.Gly626Asnfs*130
g.51961908_51961911dup
n.a
exon6
MBD6/TM1
Frameshift
n.a
n.a
Pathogenic
c.1870-2A>G
n.a
g.51961915T>C
n.a
intron5
MBD6/TM1
Splicing
n.a
n.a
Pathogenic
c.1870-49A>G
n.a
g.51961962T>C
rs1429105377
intron5
MBD6/TM1
Splicing
n.a
n.a
Likely pathogenic
c.1870–8A>G
n.a
g.51961921T>C
n.a
intron5
MBD6/TM1
Splicing
n.a
n.a
Pathogenic
c.1869+9_+17del
n.a
g.51964855_51964863del
n.a
intron5
MBD6/TM1
/
n.a
n.a
Likely benign
c.1869+20A>G
n.a
g.51964852T>C
rs566255910
intron5
MBD6/TM1
Splicing
n.a
n.a
Uncertain significance
c.1857C>A
p.Ile619Ile
g.51964884G>T
rs765501756
exon5
MBD6
Silent
n.a
n.a
Likely benign
L2007097869 (Embase)
c.1847G>A
p.Arg616Gln
g.51964894C>T
rs752850609
exon5
MBD6
Missense
Damaging (0.001)
Probably damaging (1.000)
Pathogenic
