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
c.3007G>C
p.Ala1003Pro
g.51946337C>G
rs201497300
exon13
TM6/P-domain
Missense
/
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.3002T>G
p.Val1001Gly
g.51946342A>C
rs1593680974
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2998G>A
p.Gly1000Arg
g.51946346C>T
rs751078884
exon13
TM6
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2998G>C
p.Gly1000Arg
g.51946346C>G
rs751078884
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2997dupC
p.Gly1000Argfs*28
g.51946347dup
rs1957654399
exon13
TM6
Frameshift
n.a
n.a
Pathogenic
c.2996_3011del
p.Thr999Argfs*18
g.51946333_51946348del
n.a
exon13
TM6/P-domain
Frameshift
n.a
n.a
Pathogenic
c.2994C>T
p.Gly998Gly
g.51946350G>A
rs373102009
exon13
TM6
Silent/Splicing
n.a
n.a
Likely benign
c.2993G>A
p.Gly998Asp
g.51946351C>T
n.a
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2992_2994delGGC
p.Gly998del
g.51946350_51946352del
n.a
exon13
TM6
Inframe deletion
n.a
n.a
Likely pathogenic
c.2989G>C?
p.Val997Leu
g.51946355C>G
rs1566485134
exon13
TM6
Missense
/
/
Uncertain significance
c.2987T>C
p.Met996Thr
g.51946357A>G
rs770782111
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2986_3008delinsTATGTGG
p.Met996Tyrfs*21
g.51946336_51946358delinsCCACATA
n.a
exon13
TM6/P-domain
Frameshift
n.a
n.a
Pathogenic
c.2984T>C
p.Val995Ala
g.51946360A>G
rs777791532
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2980G>T
p.Ala994Ser
g.51946364C>A
rs1555287372
exon13
TM6
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.2978C>T
p.Thr993Met
g.51946366G>A
rs200290721
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2977dupA
p.Thr993Asnfs*35
g.51946367dup
n.a
exon13
TM6
Frameshift
n.a
n.a
Pathogenic
c.2976C>A
p.Pro992Pro
g.51946368G>T
rs746358240
exon13
TM6
Silent
n.a
n.a
Likely benign
c.2976C>T
p.Pro992Pro
g.51946368G>A
rs746358240
exon13
TM6
Silent
n.a
n.a
Likely benign
c.2975C>A
p.Pro992His
g.51946369G>T
rs201038679
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
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.2972C>T
p.Thr991Met
g.51946372G>A
rs41292782
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2971A>G
p.Thr991Ala
g.51946373T>C
rs1476409946
exon13
TM6
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2970C>G
p.Ala990Ala
g.51946374G>C
rs1957658070
exon13
TM6
Silent
n.a
n.a
Likely benign
