c.2131G>A
p.Gly711Arg
g.51958535C>T
rs1394999756
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2131G>T
p.Gly711Trp
g.51958535C>A
rs1394999756
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2129G>C
p.Gly710Ala
g.51958537C>G
rs1555291285
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2129G>T
p.Gly710Val
g.51958537C>A
rs1555291285
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2128G>A
p.Gly710Ser
g.51958538C>T
rs137853285
exon8
TM2/TM3
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.2128G>C
p.Gly710Arg
g.51958538C>G
rs137853285
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2128G>T
p.Gly710Cys
g.51958538C>A
rs137853285
exon8
TM2/TM3
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2123T>C
p.Leu708Pro
g.51958543A>G
rs121908000
exon8
TM2
Missense
/
Possibly damaging(0.740)
Likely pathogenic
c.2122-23C>G
n.a
g.51958567G>C
rs749787894
intron7
/
/
n.a
n.a
Uncertain significance
Embase
c.2122-8T>C
n.a
g.51958552A>G
rs193922102
intron7
TM2
Splicing
n.a
n.a
Uncertain significance
c.2122-8T>G
n.a
g.51958552A>C
rs193922102
intron7
TM2
Splicing
n.a
n.a
Pathogenic
c.2122-6T>C
n.a
g.51958550A>G
n.a
intron7
TM2
Splicing
n.a
n.a
Uncertain significance
c.2122-3dupC
n.a
g.51958547dup
n.a
intron7
TM2
Splicing
n.a
n.a
Uncertain significance
L2004138265 (Embase)
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+1G>A
n.a
g.51960147C>T
rs751235573
intron7
TM2
Splicing
n.a
n.a
Pathogenic
c.2121+1G>T
n.a
g.51960147C>A
rs751235573
intron7
TM2
Splicing
n.a
n.a
Pathogenic
c.2121+3A>G
n.a
g.51960145T>C
rs1248002612
intron7
TM2
Splicing
n.a
n.a
Likely pathogenic
c.2121+3A>T
n.a
g.51960145T>A
rs1248002612
intron7
TM2
Splicing
n.a
n.a
Likely pathogenic
c.2121+127C>A
n.a
g.51960021G>T
rs78021873
intron7
/
/
n.a
n.a
Uncertain significance
c.2120A>G
p.Gln707Arg
g.51960149T>C
n.a
exon7
TM2
Missense
Damaging (0.001)
Probably damaging (0.988)
Likely pathogenic
c.2116_2117delGT
p.Val706Profs*48
g.51960152_51960153del
n.a
exon7
TM2
Frameshift
n.a
n.a
Pathogenic
c.2111C>T
p.Thr704Ile
g.51960158G>A
n.a
exon7
TM2
Missense
Tolerated (0.075)
Probably damaging (0.988)
Likely pathogenic
c.2110_2111delinsTT
p.Thr704Phe
g.51960158_51960159delinsAA
n.a
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2108G>A
p.Cys703Tyr
g.51960161C>T
rs767218895
exon7
TM2
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.2107T>C
p.Cys703Arg
g.51960162A>G
n.a
exon7
TM2
Missense
/
Probably damaging (0.999)
Likely pathogenic
L2004138265 (Embase)
c.2101_2102delAT
p.Ile701Leufs*53
g.51960167_51960168del
n.a
exon7
TM2
Frameshift
n.a
n.a
Pathogenic
c.2097_2099delCTT
p.Phe700del
g.51960170_51960172del
n.a
exon7
TM2
Inframe deletion
n.a
n.a
Likely pathogenic
c.2078C>A
p.Ser693Tyr
g.51960191G>T
rs1212479289
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2078C>G
p.Ser693Cys
g.51960191G>C
rs1212479289
exon7
TM2
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2078C>T
p.Ser693Phe
g.51960191G>A
rs1212479289
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
Embase
c.2078delC
p.Ser693Serfs*2
g.51960191del
n.a
exon7
TM2
Frameshift
n.a
n.a
Pathogenic
L2004138265 (Embase)
c.2077T>C
p.Ser693Pro
g.51960192A>G
n.a
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2077T>G
p.Ser693Ala
g.51960192A>C
n.a
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
L629485041 (Embase)
c.2075T>C
p.Leu692Pro
g.51960194A>G
n.a
exon7
TM2
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2072G>T
p.Gly691Val
g.51960197C>A
rs1555291801
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2071G>A
p.Gly691Arg
g.51960198C>T
rs121908001
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2071G>C
p.Gly691Arg
g.51960198C>G
rs121908001
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2069C>T
p.Pro690Leu
g.51960200G>A
rs1555291809
exon7
TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2063T>G
p.Ile688Ser
g.51960206A>C
n.a
exon7
TM1/TM2
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2060_2062delACA
p.Asn687del
g.51960207_51960209del
rs770107276
exon7
TM1/TM2
Inframe deletion
n.a
n.a
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.2049_2053delinsTTTC
p.683_684delinsVal
g.51960216_51960220delinsGAAA
n.a
exon7
TM1/TM2
Inframe deletion/insertion
n.a
n.a
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.2035delC
p.His679Thrfs*17
g.51960234del
rs786204764
exon7
TM1/TM2
Frameshift
n.a
n.a
Likely Pathogenic
c.2029dupG
p.Glu677Glyfs*78
g.51960240dup
rs1315583751
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
c.2029G>A
p.Glu677Lys
g.51960240C>T
rs2277447
exon7
TM1/TM2
Missense
/
Benign(0.002)
Uncertain significance
c.2027A>T
p.Asn676Ile
g.51960242T>A
rs774867425
exon7
TM1/TM2
Missense
/
Benign(0.025)
Uncertain significance
c.2018_2030del
p.Ile673Serfs*19
g.51960239_51960251del
n.a
exon7
TM1/TM2
Frameshift
n.a
n.a
Pathogenic
