Result(1610)
cDNA change    
Protein alteration    
Genomic reference    
RS ID    
Location    
Protein area    
Variation type    
SIFT    
PolyPhen-2    
ACMG classification    
Pubmed ID    
 c.-1039443_*350078del
 5'UTR_3'UTR del
 g.51584678_53050780del
 n.a
 exon1_21
 /
 Large fragment deletion
 n.a
 n.a
 Pathogenic
 c.4396T>C
 p.*1466Argext*1
 g.51934758A>G
 rs1956854198
 exon21
 after TM8
 Extension
 n.a
 n.a
 Likely pathogenic
 c.4378G>T
 p.Asp1460Tyr
 g.51934776G>T
 n.a
 exon21
 after TM8
 Missense
 /
 Probably damaging(0.999)
 Likely pathogenic
 c.4374_4375delCA
 p.Arg1459Glyfs*2
 g.51934779_51934780del
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4333G>C
 p.Ala1445Pro
 g.51934821C>G
 n.a
 exon21
 after TM8
 Missense
 /
 Benign (0.081)
 Likely pathogenic
 c.4314A>G
 p.Pro1438Pro
 g.51934840T>C
 rs939136907
 exon21
 after TM8
 Silent
 n.a
 n.a
 Likely benign
 c.4311G>A
 p.Lys1437Lys
 g.51934843C>T
 rs73202048
 exon21
 after TM8
 Silent
 n.a
 n.a
 Benign
 c.4310dupA
 p.Pro1438Alafs*11
 g.51934844dup
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4301C>T
 p.Thr1434Met
 g.51934853G>A
 rs60986317
 exon21
 after TM8
 Missense
 /
 Possibly damaging (0.888)
 Likely pathogenic
 c.4295C>T
 p.Ser1432Phe
 g.51934859G>A
 rs375692175
 exon21
 after TM8
 Missense
 /
 Probably damaging(0.999)
 Likely pathogenic
 c.4277G>T
 p.Ser1426Ile
 g.51934877C>A
 rs549611809
 exon21
 after TM8
 Missense
 /
 Probably damaging(1.000)
 Likely pathogenic
 c.4272T>G
 p.Tyr1424*
 g.51934882A>C
 rs780613139
 exon21
 after TM8
 Nonsense
 n.a
 n.a
 Pathogenic
 c.4268G>A
 p.Ser1423Asn
 g.51934886C>T
 rs755388647
 exon21
 after TM8
 Missense
 /
 Probably damaging(0.997)
 Pathogenic
 c.4251A>G
 p.Thr1417Thr
 g.51934903T>C
 rs546721020
 exon21
 after TM8
 Silent
 n.a
 n.a
 Likely benign
 c.4245_4246dupGG
 p.Ala1386Glyfs*6
 g.51934908_51934909dup
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
  L2004138265 (Embase)
 c.4230G>A
 p.Trp1410*
 g.51934924C>T
 n.a
 exon21
 after TM8
 Nonsense
 n.a
 n.a
 Pathogenic
 c.4221T>A
 p.Asp1407Glu
 g.51934933A>T
 rs587783320
 exon21
 after TM8
 Missense
 /
 Possibly damaging(0.533)
 Likely benign
 c.4213G>A
 p.Gly1405Ser
 g.51934941C>T
 rs189601972
 exon21
 after TM8
 Missense
 /
 Probably damaging(1.000)
 Likely pathogenic
 c.4196A>G
 p.Gln1399Arg
 g.51934958T>C
 n.a
 exon21
 after TM8
 Missense
 /
 Possibly damaging(0.945)
 Likely pathogenic
 c.4195delC
 p.Gln1399Argfs*6
 g.51934959del
 rs886041336
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4194C>T
 p.Ser1398Ser
 g.51934960G>A
 n.a
 exon21
 after TM8
 Silent
 n.a
 n.a
 Likely benign
 c.4187C>T
 p.Thr1396Met
 g.51934967G>A
 rs528603867
 exon21
 after TM8
 Missense
 /
 Probably damaging(0.991)
 Likely pathogenic
 c.4183dupC
 p.Leu1395Profs*14
 g.51934971dup
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4183del
 p. Leu1395*
 g.51934971del
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4176dupG
 p.Lys1393Glufs*16
 g.51934978dup
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4175T>A
 p.Met1392Lys
 g.51934979A>T
 rs199821965
 exon21
 after TM8
 Missense
 /
 Benign (0.001)
 Likely pathogenic
 c.4162delG
 p.Ala1388Argfs*5
 g.51934992del
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4153dupG
 p.Glu1385Glyfs*24
 g.51935001dup
 n.a
 exon21
 after TM8
 Frameshift
 n.a
 n.a
 Pathogenic
 c.4144G>T
 p.Glu1382*
 g.51935010C>A
 n.a
 exon21
 after TM8
 Nonsense
 n.a
 n.a
 Pathogenic
 c.4138G>C
 p.Asp1380His
 g.51935016C>G
 rs768984875
 exon21
 after TM8
 Missense
 Damaging (0.028)
 Possibly damaging (0.724)
 Likely pathogenic
 c.4135C>T
 p.Pro1379Ser
 g.51935019G>A
 rs181250704
 exon21
 after TM8
 Missense
 /
 Probably damaging(0.999)
 Likely pathogenic
 c.4128T>G
 p.Tyr1376*
 g.51935026A>C
 n.a
 exon21
 TM8
 Nonsense
 n.a
 n.a
 Pathogenic
 c.4125-2A>G
 n.a
 g.51935031T>C
 rs1555282347
 intron20
 TM8
 Splicing
 n.a
 n.a
 Pathogenic
 c.4125-1G>A
 n.a
 g.51935030C>T
 rs1293549383
 intron20
 TM8
 Splicing
 n.a
 n.a
 Pathogenic
 c.4125-1G>C
 n.a
 g.51935030C>G
 rs1293549383
 intron20
 TM8
 Splicing
 n.a
 n.a
 Pathogenic
 c.4125-1G>T
 n.a
 g.51935030C>A
 rs1293549383
 intron20
 TM8
 Splicing
 n.a
 n.a
 Pathogenic
 c.4124G>C
 p.Cys1375Ser
 g.51935593C>G
 rs1365425480
 exon20
 TM8
 Missense
 /
 Possibly damaging(0.570)
 Likely pathogenic
 c.4124+2T>G
 n.a.
 g.51935591A>C
 n.a
 intron20
 TM8
 Splicing
 n.a
 n.a
 Pathogenic
 c.4124+4A>G
 n.a.
 g.51935589T>C
 n.a
 intron20
 TM8
 Splicing
 n.a
 n.a
 Uncertain significance
 c.4124+5G>A
 n.a
 g.51935588C>T
 rs1321980462
 intron20
 TM8
 Splicing
 n.a
 n.a
 Likely pathogenic
 c.4124+6T>C
 n.a
 g.51935587A>G
 n.a
 intron20
 TM8
 Splicing
 n.a
 n.a
 Uncertain significance
 c.4120A>T
 p.Lys1374*
 g.51935597T>A
 n.a
 exon20
 TM8
 Nonsense
 n.a
 n.a
 Pathogenic
 c.4118T>C
 p.Leu1373Pro
 g.51935599A>G
 rs780811477
 exon20
 TM8
 Missense
 /
 Probably damaging(1.000)
 Likely pathogenic
 c.4118T>G
 p.Leu1373Arg
 g.51935599A>C
 rs780811477
 exon20
 TM8
 Missense
 /
 Probably damaging(1.000)
 Likely pathogenic
 c.4117C>T
 p.Leu1373Phe
 g.51935600G>A
 rs1268766352
 exon20
 TM8
 Missense
 /
 Probably damaging(1.000)
 Likely pathogenic
 c.4116G>A
 p.Gln1372Gln
 g.51935601C>T
 rs745363573
 exon20
 TM8
 Silent
 n.a
 n.a
 Likely benign
 c.4114C>T
 p.Gln1372*
 g.51935603G>A
 rs755584106
 exon20
 TM8
 Nonsense
 n.a
 n.a
 Pathogenic
 c.4112T>C
 p.Leu1371Pro
 g.51935605A>G
 rs1444841250
 exon20
 TM8
 Missense
 Damaging (0.011)
 Probably damaging (1.000)
 Likely pathogenic
 c.4110C>T
 p.Ser1370Ser
 g.51935607G>A
 rs779979628
 exon20
 TM8
 Silent
 n.a
 n.a
 Likely benign
 c.4109C>T
 p.Ser1370Phe
 g.51935608G>A
 n.a
 exon20
 TM8
 Missense
 Damaging (0.013)
 Probably damaging (1.000)
 Likely pathogenic

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