c.2810delT
p.Val937Glyfs*5
g.51949717del
rs1057516643
exon12
TM5
Frameshift
n.a
n.a
Pathogenic
c.2806_2808del
p.Leu936del
g.51949719_51949721del
n.a
exon12
TM5
Inframe deletion
n.a
n.a
Likely pathogenic
c.2805G>A
p.Thr935Thr
g.51949722C>T
rs141872590
exon12
TM5
Silent
n.a
n.a
Likely benign
c.2804C>T
p.Thr935Met
g.51949723G>A
rs750019452
exon12
TM5
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2795C>A
p.Ser932*
g.51949732G>T
rs1566498495
exon12
TM5
Nonsense
n.a
n.a
Pathogenic
c.2793_2794dup
p.Ser932Cysfs*4
g.51949732_51949733insAC
n.a
exon12
TM5
Frameshift
n.a
n.a
Pathogenic
c.2790_2792del
p.Ile930del
g.51949735_51949737del
rs1228359983
exon12
TM5
Inframe deletion
n.a
n.a
Likely pathogenic
c.2785A>G
p.Ile929Val
g.51949742T>C
rs534960245
exon12
TM5
Missense
/
Benign(0.033)
Likely benign
c.2763T>A
p.Ser921Arg
g.51949764A>T
rs1052485948
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2761A>C
p.Ser921Arg
g.51949766T>G
n.a
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2755C>G
p.Arg919Gly
g.51949772G>C
rs121907993
exon12
TM5
Missense
Damaging (0.002)
Probably damaging (0.832)
Likely pathogenic
c.2755C>T
p.Arg919Trp
g.51949772G>A
rs121907993
exon12
TM5
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.2752G>A
p.Asp918Asn
g.51949775C>T
rs540935874
exon12
TM5
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2740C>T
p.Gln914*
g.51949787G>A
n.a
exon12
A-domain/TM5
Nonsense
n.a
n.a
Pathogenic
c.2739T>A
p.Ile913Ile
g.51949788A>T
n.a
exon12
A-domain/TM5
Silent
n.a
n.a
Likely benign
c.2731-2A> T
n.a
g.51949798T>A
rs367956522
intron11
A-domain/TM5
Splicing
n.a
n.a
Pathogenic
c.2731-1G>A
n.a
g.51949797C>T
n.a
intron11
A-domain/TM5
Splicing
n.a
n.a
Pathogenic
c.2731G>A
p.Ala911Thr
g.51949796C>T
n.a
exon12
A-domain/TM5
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2730G>T
p.Lys910Asn
g.51950007C>A
rs80145681
exon11
A-domain/TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2730+1G>A
n.a
g.51950006C>T
rs1057516425
intron11
A-domain/TM5
Splicing
n.a
n.a
Likely pathogenic
c.2730+1G>T
n.a
g.51950006C>A
rs1057516425
intron11
A-domain/TM5
Splicing
n.a
n.a
Pathogenic
c.2705T>C
p.Leu902Pro
g.51950032A>G
n.a
exon11
A-domain/TM5
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2697_2723del
p.899_907delIVKLVEEAQ
g.51950014_51950040del
n.a
exon11
A-domain/TM5
Inframe deletion
n.a
n.a
Likely pathogenic
c.2696T>C
p.Ile899Thr
g.51950041A>G
n.a
exon11
A-domain/TM5
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2692C>T
p.Gln898*
g.51950045G>A
rs1957898187
exon11
A-domain/TM5
Nonsense
n.a
n.a
Pathogenic
c.2673C>G
p.Gly891Gly
g.51950064G>C
rs587783305
exon11
A-domain/TM5
Silent
n.a
n.a
Likely benign
c.2668G>A
p.Val890Met
g.51950069C>T
rs786204718
exon11
A-domain/TM5
Missense
Damaging (0.003)
Probably damaging (1.000)
Likely pathogenic
c.2665C>G
p.His889Asp
g.51950072G>C
n.a
exon11
A-domain/TM5
Missense
/
Probably damaging (0.992)
Likely pathogenic
c.2662A>C
p.Thr888Pro
g.51950075T>G
rs1455758826
exon11
A-domain/TM5
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2659delG
p.Ala887Leufs*14
g.51950078del
rs1957900892
exon11
A-domain/TM5
Frameshift
n.a
n.a
Pathogenic
c.2648_2649del
p.Val883Alafs*3
g.51950088_51950089del
rs1957901268
exon11
A-domain/TM5
Frameshift
n.a
n.a
Pathogenic
c.2642G>A
p.Gly881Asp
g.51950095C>T
n.a
exon11
A-domain/TM5
Missense
Damaging (0.001)
Probably damaging (0.999)
Likely pathogenic
c.2633A>C
p.Asn878Thr
g.51950104T>G
n.a
exon11
A-domain/TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2623G>A
p.Gly875Arg
g.51950114C>T
rs587783304
exon11
A-domain/TM5
Missense
/
Probably damaging (1.000)
Pathogenic
c.2621C>T
p.Ala874Val
g.51950116G>A
rs121907994
exon11
A-domain/TM5
Missense
Damaging (0.004)
Probably damaging (0.999)
Pathogenic
c.2620G>C
p.Ala874Pro
g.51950117C>G
rs376355660
exon11
A-domain/TM5
Missense
Damaging (0.006)
Probably damaging (0.999)
Likely pathogenic
c.2605G>A
p.Gly869Arg
g.51950132C>T
rs191312027
exon11
A-domain/TM5
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2604del
p.Gly869Glufs*4
g.51950133del
rs1957904411
exon11
A-domain/TM5
Frameshift
n.a
n.a
Pathogenic
c.2596A>T
p.Lys866*
g.51950141T>A
rs1957904690
exon11
A-domain
Nonsense
n.a
n.a
Pathogenic
c.2590_2593dup/c.2593_2594insGTCA
p.Thr865Serfs*3
g.51950144_51950147dup
n.a
exon11
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2587C>T
p.Pro863Ser
g.51950150G>A
n.a
exon11
A-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.2583C>T
p.Ala861Ala
g.51950154G>A
rs565717791
exon11
A-domain
Silent
n.a
n.a
Likely benign
c.2576-30A>G
n.a
g.51950191T>C
rs2281814
intron10
/
n.a
n.a
n.a
Likely benign
c.2576-6G>A
n.a
g.51950167C>T
rs755819821
intron10
A-domain
n.a
n.a
n.a
Likely benign
c.2576-13_-6delinsAGGTGTCATGTC
n.a
g.51950166_51950173delinsGACATGACACCT
n.a
intron10
A-domain
/
n.a
n.a
Uncertain significance
c.2575+2T>A
n.a
g.51950270A>T
rs1593696714
intron10
A-domain
Splicing
n.a
n.a
Pathogenic
c.2564C>A
p.Ser855Tyr
g.51950283G>T
rs764783012
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2561A>G
p.Glu854Gly
g.51950286T>C
rs1403129366
exon10
A-domain
Missense
/
Probably damaging (0.992)
Likely pathogenic
c.2561A>T
p.Glu854Val
g.51950286T>A
rs1403129366
exon10
A-domain
Missense
Damaging (0.000)
Probably damaging (0.992)
Likely pathogenic
c.2549C>T
p.Thr850Ile
g.51950298G>A
rs777629392
exon10
A-domain
Missense
Damaging (0.001)
Benign (0.037)
Likely pathogenic
