c.2865+467A>G
n.a
g.51949195T>C
rs554785361
intron12
TM5/TM6
/
n.a
n.a
Likely benign
c.2862_2865delTCCT
p.Phe954Leufs*12
g.51949662_51949665del
n.a
exon12
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2855G>A
p.Arg952Lys
g.51949672C>T
rs732774
exon12
TM5/TM6
Missense
/
Benign(0.000)
Benign
c.2853G>A
p.Gln951Gln
g.51949674C>T
n.a
exon12
TM5/TM6
Silent
n.a
n.a
Likely benign
c.2853_2856delGAGA
p.Gln951Hisfs*15
g.51949671_51949674del
n.a
exon12
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2848G>T
p.Val950Phe
g.51949679C>A
n.a
exon12
TM5/TM6
Missense
/
Probably damaging (0.996)
Likely pathogenic
c.2846T>G
p.Val949Gly
g.51949681A>C
rs1169959260
exon12
TM5/TM6
Missense
/
Possibly damaging(0.728)
Likely pathogenic
c.2842G>T
p.Gly948Cys
g.51949685C>A
rs756253215
exon12
TM5/TM6
Missense
/
Possibly damaging(0.596)
Likely pathogenic
c.2835C>T
p.Ile945Ile
g.51949692G>A
rs761169879
exon12
TM5/TM6
Silent
n.a
n.a
Likely benign
c.2834delT
p.Ile945Thrfs*22
g.51949693delT
n.a
exon12
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2828G>A
p.Gly943Asp
g.51949699C>T
rs779323689
exon12
TM5/TM6
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2827G>A
p.Gly943Ser
g.51949700C>T
rs28942076
exon12
TM5/TM6
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2827G>T
p.Gly943Cys
g.51949700C>A
rs28942076
exon12
TM5/TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2826C>A
p.Ile942Ile
g.51949701G>T
rs758712064
exon12
TM5/TM6
Silent/Splicing
n.a
n.a
Likely benign
c.2817G>C
p.Trp939Cys
g.51949710C>G
rs1057517310
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2817G>T
p.Trp939Cys
g.51949710C>A
rs1057517310
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2816G>A
p.Trp939*
g.51949711C>T
rs1957874174
exon12
TM5
Nonsense
n.a
n.a
Pathogenic
c.2815_2816insA
p.Trp939*
g.51949711_51949712insT
n.a
exon12
TM5
Frameshift
n.a
n.a
Pathogenic
c.2810delT
p.Val937Glyfs*5
g.51949717del
rs1057516643
exon12
TM5
Frameshift
n.a
n.a
Pathogenic
c.2809_2821del
p.Val937*
g.51949706_51949718del
n.a
exon12
TM5
Inframe deletion
n.a
n.a
Likely pathogenic
c.2807T>A
p.Leu936*
g.51949720A>T
rs776002066
exon12
TM5
Nonsense
n.a
n.a
Pathogenic
c.2806_2808delTTG
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.2797A>C
p.Thr933Pro
g.51949730T>G
rs1555288410
exon12
TM5
Missense
/
Probably damaging (0.994)
Likely pathogenic
c.2795C>A
p.Ser932*
g.51949732G>T
rs1566498495
exon12
TM5
Nonsense
n.a
n.a
Pathogenic
c.2795C>T
p.Ser932Leu
g.51949732G>A
rs1566498495
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2793_2794dupGT
p.Ser932Cysfs*4
g.51949732_51949733insAC
n.a
exon12
TM5
Frameshift
n.a
n.a
Pathogenic
c.2790_2792delCAT
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.2765_2773del
p.922_924delGYF
g.51949754_51949762del
rs1957878059
exon12
TM5
Inframe deletion
n.a
n.a
Likely pathogenic
c.2763T>A
p.Ser921Arg
g.51949764A>T
rs1052485948
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2762G>A
p.Ser921Asn
g.51949765C>T
rs1230241288
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.2761A>G
p.Ser921Gly
g.51949766T>C
n.a
exon12
TM5
Missense
/
/
Likely pathogenic
c.2758T>G
p.Phe920Val
g.51949769A>C
n.a
exon12
TM5
Missense
/
Benign(0.030)
Uncertain significance
c.2756G>T
p.Arg919Leu
g.51949771C>A
rs574579593
exon12
TM5
Missense
/
Possibly damaging(0.832)
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.2754C>G
p.Asp918Glu
g.51949773G>C
n.a
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2753A>C
p.Asp918Ala
g.51949774T>G
rs1245497484
exon12
TM5
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2752G>A
p.Asp918Asn
g.51949775C>T
rs540935874
exon12
TM5
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2747T>C
p.Leu916Pro
g.51949780A>G
n.a
exon12
TM5
Missense
/
Probably damaging (0.999)
Likely pathogenic
L2004138265 (Embase)
c.2745G>A
p.Gln915Gln
g.51949782C>T
rs1164183638
exon12
A-domain/TM5
Silent
n.a
n.a
Likely benign
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.2736_2746del
p.Ile913Glyfs*2
g.51949781_51949791del
n.a
exon12
A-domain/TM5
Frameshift
n.a
n.a
Pathogenic
c.2732C>T
p.Ala911Val
g.51949795G>A
rs1014184765
exon12
A-domain/TM5
Missense
/
Probably damaging (1.000)
Likely 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.2731-32T>A
n.a
g.51949828A>T
rs1957883243
intron11
/
/
n.a
n.a
Uncertain significance
L365167883 (Embase)
