c.3056A>T
p.His1019Leu
g.51946288T>A
n.a
exon13
P-domain
Missense
Damaging (0.002)
Probably damaging (0.999)
Likely pathogenic
c.3053C>T
p.Ala1018Val
g.51946291G>A
rs371840514
exon13
TM6/P-domain
Missense
Damaging (0.060)
Probably damaging (0.999)
Likely pathogenic
c.3052G>A
p.Ala1018Thr
g.51946292C>T
n.a
exon13
TM6/P-domain
Missense
Damaging (0.031)
Probably damaging (0.998)
Likely pathogenic
c.3045G>A
p.Leu1015Leu
g.51946299C>T
rs1801248
exon13
TM6/P-domain
Silent
n.a
n.a
Benign
c.3044T>C
p.Leu1015Pro
g.51946300A>G
rs1334355798
exon13
TM6/P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3044T>G
p.Leu1015Arg
g.51946300A>C
rs1334355798
exon13
TM6/P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3043C>A
p.Leu1015Met
g.51946302G>T
rs1438628867
exon13
TM6/P-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3041C>T
p.Pro1014Leu
g.51946303G>A
n.a
exon13
TM6/P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3029A>C
p.Lys1010Thr
g.51946315T>G
rs747584649
exon13
TM6/P-domain
Missense
/
Probably damaging (0.999)
Pathogenic
c.3029_3030insT
p.Lys1010Asnfs*18
g.51946314_51946315insA
n.a
exon13
TM6/P-domain
Frameshift
n.a
n.a
Pathogenic
c.3028A>G
p.Lys1010Glu
g.51946316T>C
rs1414727042
exon13
TM6/P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3015C>T
p.Asn1005Asn
g.51946329G>A
rs74085888
exon13
TM6/P-domain
Silent
n.a
n.a
Benign
c.3010C>T
p.Gln1004*
g.51946334G>A
rs1448968475
exon13
TM6/P-domain
Nonsense
n.a
n.a
Pathogenic
c.3009G>A
p.Ala1003Ala
g.51946335C>T
rs1801247
exon13
TM6/P-domain
Silent
n.a
n.a
Benign
c.3008C>T
p.Ala1003Val
g.51946336G>A
rs775055397
exon13
TM6/P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3007G>A
p.Ala1003Thr
g.51946337C>T
rs201497300
exon13
TM6/P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3004G>A
p.Ala1002Thr
g.51946340C>T
n.a
exon13
TM6
Missense
Damaging (0.002)
Probably damaging (0.996)
Likely pathogenic
c.2998G>A
p.Gly1000Arg
g.51946346C>T
rs751078884
exon13
TM6
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2989G>C?
p.Val997Leu
g.51946355C>G
rs1566485134
exon13
TM6
Missense
/
/
Uncertain significance
c.2975C>T
p.Pro992Leu
g.51946369G>A
rs201038679
exon13
TM6
Missense
Damaging (0.001)
Probably damaging (1.000)
Pathogenic
c.2973G>A
p.Thr991Thr
g.51946371C>T
rs1801246
exon13
TM6
Silent
n.a
n.a
Benign
c.2963G>T
p.Gly988Val
g.51946381C>A
rs1057518867
exon13
TM6
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2960T>C
p.Leu987Pro
g.51946384A>G
n.a
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2957C>T
p.Ser986Phe
g.51946387G>A
rs1337256944
exon13
TM6
Missense
Damaging (0.001)
Probably damaging (1.000)
Pathogenic
c.2947T>C
p.Cys983Arg
g.51946397A>T
n.a
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2945C>T
p.Ala982Val
g.51946399G>A
rs1487547257
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2944G>A
p.Ala982Thr
g.51946400C>T
rs750407121
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2939G>A
p.Cys980Tyr
g.51946405C>T
rs1038582488
exon13
TM6
Missense
Damaging (0.001)
Probably damaging (0.997)
Likely pathogenic
c.2939G>T
p.Cys980Phe
g.51946405C>A
rs1038582488
exon13
TM6
Missense
/
Probably damaging (0.997)
Likely pathogenic
c.2938T>C
p.Cys980Arg
g.51946406A>G
rs576235742
exon13
TM6
Missense
Damaging (0.003)
Probably damaging (1.000)
Likely pathogenic
c.2936T>C
p.Leu979Pro
g.51946408A>G
n.a
exon13
TM6
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2932dupG
p.Val978Glyfs*50
g.51946412dup
n.a
exon13
TM6
Frameshift
n.a
n.a
Pathogenic
c.2930C>T
p.Thr977Met
g.51946414G>A
rs72552255
exon13
TM6
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2924C>A
p.Ser975Tyr
g.51946420G>T
rs778163447
exon13
TM6
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2922G>A
p.Thr974Thr
g.51946422C>T
rs751802421
exon13
TM6
Silent
n.a
n.a
Likely benign
c.2913T>A
p.Ala971Ala
g.51946431A>T
n.a
exon13
TM6
Silent
n.a
n.a
Likely benign
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.2894_2895del
p.Glu965Glyfs*62
g.51946449_51946450del
n.a
exon13
TM5/TM6
Frameshift
n.a
n.a
Pathogenic
c.2891_2894del
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.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.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_2856del
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
