c.2012dupT
p.Met671Ilefs*84
g.51960257dup
n.a
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
c.2010_2016delTATGCTG
p.Tyr670*
g.51960253_51960259del
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_2012dupATAT
p.Met671Ilefs*85
g.51960257_51960260dup
rs1555291870
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
c.2009_2015delATATGCT
p.Tyr670*
g.51960254_51960260del
rs779904655
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
c.2008_2013delTATATG
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.2004_2006delGAT
p.Met668del
g.51960263_51960265del
n.a
exon7
TM1/TM2
Inframe deletion
n.a
n.a
Likely pathogenic
c.2000T>A
p.Leu667*
g.51960269A>T
rs1474837260
exon7
TM1
Nonsense
n.a
n.a
Pathogenic
c.1995G>A
p.Met665Ile
g.51960274C>T
rs72552259
exon7
TM1
Missense
/
Benign(0.165)
Uncertain significance
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.1973T>C
p.Leu658Pro
g.51960296A>G
n.a
exon7
TM1
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.1972dupC
p.Leu658Profs*97
g.51960298dup
n.a
exon7
TM1
Frameshift
n.a
n.a
Pathogenic
c.1969A>C
p.Ser657Arg
g.51960300T>G
rs372436901
exon7
TM1
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.1968C>A
p.Cys656*
g.51960301G>T
n.a
exon7
TM1
Nonsense
n.a
n.a
Pathogenic
c.1964T>G
p.Leu655Arg
g.51960305A>C
n.a
exon7
TM1
Missense
/
Probably damaging (0.995)
Likely pathogenic
L2004138265 (Embase)
c.1963delC
p.Leu655Cysfs*13
g.51960306del
n.a
exon7
TM1
Frameshift
n.a
n.a
Pathogenic
c.1958C>A
p.Ser653Tyr
g.51960311G>T
n.a
exon7
TM1
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.1950G>A
p.Trp650*
g.51960319C>T
n.a
exon7
TM1
Nonsense
n.a
n.a
Pathogenic
c.1947delG
p.Gln649Hisfs*19
g.51960322del
n.a
exon7
TM1
Frameshift
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.1947-19T>A
n.a
g.51960341A>T
rs1593733949
intron6
TM1
Splicing
n.a
n.a
Pathogenic
c.1947-4C>T
n.a
g.51960326G>A
rs74904335
intron6
TM1
Splicing
n.a
n.a
Uncertain significance
c.1947-2A>G
n.a
g.51960324T>C
n.a
intron6
TM1
Splicing
n.a
n.a
Pathogenic
c.1947-1G>C
n.a
g.51960323C>G
rs1405260211
intron6
TM1
Splicing
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+2T>G
n.a
g.51961835A>C
n.a
intron6
TM1
Splicing
n.a
n.a
Pathogenic
c.1946+3A>G
n.a
g.51961834T>C
rs1958764577
intron6
TM1
Splicing
n.a
n.a
Uncertain significance
c.1946+5dupG
n.a
g.51961832dup
rs760759138
intron6
TM1
Splicing
n.a
n.a
Uncertain significance
c.1946+5G>A
n.a
g.51961832C>T
n.a
intron6
TM1
Splicing
n.a
n.a
Uncertain significance
c.1946+6T>C
n.a
g.51961831A>G
rs751287778
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.*1942A>G
n.a
g.51932814T>C
rs570830053
3'UTR
/
UTR
n.a
n.a
Uncertain significance
c.1935G>T/C/A
p.Met645Ile
g.51961848C>A/G/T
n.a
exon6
TM1
Missense
/
Benign(0.003)
Uncertain significance
c.1934T>G
p.Met645Arg
g.51961849A>C
rs121907998
exon6
TM1
Missense/Splicing
/
Benign(0.000)
Likely pathogenic
c.1932G>A
p.Lys644Lys
g.51961851C>T
n.a
exon6
TM1
Silent
n.a
n.a
Likely benign
c.1927ins10
p.His643fs
g.51961855_51961856ins10
n.a
exon6
TM1
Frameshift
n.a
n.a
Pathogenic
c.1925A>G
p.Asp642Gly
g.51961858T>C
n.a
exon6
TM1
Missense
/
Probably damaging (0.996)
Likely pathogenic
c.1924G>C
p.Asp642His
g.51961859C>G
rs72552285
exon6
TM1
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.1924G>T
p.Asp642Tyr
g.51961859C>A
rs72552285
exon6
TM1
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.1923G>A
p.Leu641Leu
g.51961860C>T
n.a
exon6
TM1
Silent
n.a
n.a
Likely benign
c.1922T>C
p.Leu641Ser
g.51961861A>G
rs186924074
exon6
TM1
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.1915C>T
p.His639Tyr
g.51961868G>A
rs200728096
exon6
TM1
Missense
/
Probably damaging (0.994)
Likely pathogenic
c.1912G>T
p.Ala638Ser
g.51961871C>A
rs886038218
exon6
TM1
Missense
/
Benign(0.406)
Likely pathogenic
c.1910delA
p.Asn637Thrfs*11
g.51961873del
n.a
exon6
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.1897delC
p.Gln633Argfs*13
g.51961886del
n.a
exon6
TM1
Frameshift
n.a
n.a
Pathogenic
L2004138265 (Embase)
