c.3085_3086delAC
p.Thr1029Trpfs*39
g.51944266_51944267del
n.a
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3084_3085delGA
p.Lys1028Asnfs*40
g.51944267_51944268del
n.a
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3083A>G
p.Lys1028Arg
g.51944269T>C
rs1268840062
exon14
P-domain
Missense
/
Probably damaging (0.993)
Likely pathogenic
c.3083_3085delinsG
p.Lys1028Serfs*40
g.51944267_51944269delinsC
rs1331370011
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3082_3085delinsCG
p.Lys1028Argfs*40
g.51944267_51944270delinsGC
n.a
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3079G>A
p.Asp1027Asn
g.51944273C>T
rs1593672840
exon14
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3079G>C
p.Asp1027His
g.51944273C>G
rs1593672840
exon14
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3079G>T
p.Asp1027Tyr
g.51944273C>A
rs1593672840
exon14
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3077T>A
p.Phe1026Tyr
g.51944275A>T
n.a
exon14
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3074T>A
p.Met1025Lys
g.51944278A>T
rs1555286633
exon14
P-domain
Missense
/
Possibly damaging(0.949)
Likely pathogenic
c.3074T>G
p.Met1025Arg
g.51944278A>C
rs1555286633
exon14
P-domain
Missense
/
Possibly damaging(0.536)
Likely pathogenic
c.3071T>C
p.Val1024Ala
g.51944281A>G
rs1416453532
exon14
P-domain
Missense
/
Probably damaging (0.999)
Pathogenic
c.3071_3072delTG
p.Val1024Aspfs*3
g.51944280_51944281del
rs1957519682
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3062T>A
p.Ile1021Lys
g.51944290A>T
rs949421614
exon14
P-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3061A>G
p.Ile1021Val
g.51944291T>C
rs776490710
exon14
P-domain
Missense
/
Possibly damaging(0.504)
Likely pathogenic
c.3061-12T>A
n.a
g.51944303A>T
rs1045194246
intron13
P-domain
Splicing
n.a
n.a
Pathogenic
c.3061-3C>A
n.a
g.51944294G>T
n.a
intron13
P-domain
Splicing
n.a
n.a
Likely pathogenic
c.3061-2A>G
n.a
g.51944293T>C
rs1957520924
intron13
P-domain
Splicing
n.a
n.a
Pathogenic
c.3061-1G>A
n.a
g.51944292C>T
rs780955130
intron13
P-domain
Splicing
n.a
n.a
Pathogenic
c.3060+5G>C
n.a
g.51946279C>G
rs1353373400
intron13
P-domain
Splicing
n.a
n.a
Uncertain significance
c.3060+5G>T
n.a
g.51946279C>A
rs1353373400
intron13
P-domain
Splicing
n.a
n.a
Likely pathogenic
c.3060+7C>A
n.a
g.51946277G>T
rs1005774730
intron13
P-domain
Splicing
n.a
n.a
Uncertain significance
c.3059A>G
p.Lys1020Arg
g.51946285T>C
n.a
exon13
P-domain
Missense
/
Possibly damaging(0.721)
Likely pathogenic
c.3056A>C
p.His1019Pro
g.51946288T>G
n.a
exon13
P-domain
Missense
Damaging (0.002)
Probably damaging (1.000)
Likely pathogenic
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.3036C>G
p.Gly1012Gly
g.51946308G>C
n.a
exon13
TM6/P-domain
Silent
n.a
n.a
Likely benign
c.3036dupC
p.Lys1013Glnfs*15
g.51946308dup
rs1555287300
exon13
TM6/P-domain
Frameshift
n.a
n.a
Pathogenic
c.3035G>T
p.Gly1012Val
g.51946309C>A
rs772089544
exon13
TM6/P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3034G>C
p.Gly1012Arg
g.51946310C>G
rs1008757004
exon13
TM6/P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3031G>T
p.Gly1011*
g.51946313C>A
rs1300595204
exon13
TM6/P-domain
Nonsense
n.a
n.a
Pathogenic
c.3031_3032insC
p.Gly1011Alafs*17
g.51946312_51946313insG
n.a
exon13
TM6/P-domain
Frameshift
n.a
n.a
Pathogenic
c.3029A>C
p.Lys1010Thr
g.51946315T>G
rs747584649
exon13
TM6/P-domain
Missense
/
Probably damaging (0.999)
Pathogenic
c.3029A>G
p.Lys1010Arg
g.51946315T>C
rs747584649
exon13
TM6/P-domain
Missense
/
Probably damaging (1.000)
Likely 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.3026_3028delTCA
p.Ile1009del
g.51946316_51946318del
n.a
exon13
TM6/P-domain
Inframe deletion
n.a
n.a
Likely pathogenic
c.3015C>T
p.Asn1005Asn
g.51946329G>A
rs74085888
exon13
TM6/P-domain
Silent
n.a
n.a
Benign
c.3012G>A
p.Gln1004Gln
g.51946332C>T
rs1256858818
exon13
TM6/P-domain
Silent
n.a
n.a
Likely benign
L365167883 (Embase)
c.3011A>C
p.Gln1004Pro
g.51946333T>G
rs587783307
exon13
TM6/P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
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
