c.2912C>T
p.Ala971Val
g.51946432G>A
rs770340441
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2906G>A
p.Arg969Gln
g.51946438C>T
rs121907996
exon13
TM6
Missense
Tolerated (0.382)
Probably damaging (1.000)
Pathogenic
c.2905C>T
p.Arg969Trp
g.51946439G>A
rs774028495
exon13
TM6
Missense
Damaging (0.016)
Probably damaging (1.000)
Likely pathogenic
c.2903T>A
p.Ile968Asn
g.51946441A>T
n.a
exon13
TM6
Missense
Damaging (0.001)
Probably damaging (0.977)
Likely pathogenic
c.2899A>T
p.Ile967Phe
g.51946445T>A
rs60003608
exon13
TM5/TM6
Missense
/
Possibly damaging(0.872)
Likely pathogenic
c.2894_2895delAG
p.Glu965Glyfs*62
g.51946449_51946450del
n.a
exon13
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2891_2894delCAGA
p.Thr964Argfs*2
g.51946450_51946453del
n.a
exon13
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2887C>T
p.Gln963*
g.51946457G>A
n.a
exon13
TM5/TM6
Nonsense
n.a
n.a
Pathogenic
c.2887delC
p.Gln963Argfs*4
g.51946457del
n.a
exon13
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2871delC
p.Asn958Thrfs*9
g.51946473del
rs1957668488
exon13
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2866-1521G>A
n.a
g.51947999C>T
rs915988161
intron12
TM5/TM6
Splicing
n.a
n.a
Pathogenic
c.2866-105G>A
n.a
g.51946583C>T
rs41292784
intron12
/
/
n.a
n.a
Uncertain significance
c.2866-90G>T
n.a
g.51946568C>A
rs2296246
intron12
/
/
n.a
n.a
Uncertain significance
c.2866-13G>C
n.a
g.51946491C>G
rs7325983
intron12
/
/
n.a
n.a
Benign
c.2866-7T>C
n.a
g.51946485A>G
n.a
intron12
/
/
n.a
n.a
Uncertain significance
c.2866-6T>G
n.a
g.51946484A>C
rs751890141
intron12
TM5/TM6
Splicing
n.a
n.a
Pathogenic
c.2866-3C>G
n.a
g.51946481G>C
n.a
intron12
TM5/TM6
Splicing
n.a
n.a
Uncertain significance
c.2866-2A>G
n.a
g.51946480T>C
rs1377418826
intron12
TM5/TM6
Splicing
n.a
n.a
Pathogenic
c.2866-1G>C
n.a
g.51946479C>G
n.a
intron12
TM5/TM6
Splicing
n.a
n.a
Pathogenic
c.2865+1G>A
n.a
g.51949661C>T
rs587783306
intron12
TM5/TM6
Splicing
n.a
n.a
Likely pathogenic
c.2865+5G>T
n.a
g.51949657C>A
rs765192555
intron12
TM5/TM6
Splicing
n.a
n.a
Uncertain significance
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.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
