NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00003
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00002
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000080.4(CHRNE):c.803-2A>G
|
rs1320610655
|
0.00002
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
|
rs121909512
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)
|
rs748103983
|
0.00001
|
NC_000017.10:g.(?_4805539)_(4806690_?)del
|
|
|
NC_000017.11:g.(?_4901641)_(4903159_?)del
|
|
|
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs)
|
rs2151098905
|
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)
|
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg)
|
rs193919341
|
|
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
|
|
|
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter)
|
|
|
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)
|
rs121909513
|
|
NM_000080.4(CHRNE):c.250del (p.Arg84fs)
|
rs1555547003
|
|
NM_000080.4(CHRNE):c.264del (p.Ser88fs)
|
|
|
NM_000080.4(CHRNE):c.293dup (p.Arg99fs)
|
|
|
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter)
|
rs1278514080
|
|
NM_000080.4(CHRNE):c.313_319del (p.Val105fs)
|
|
|
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs)
|
rs2151098538
|
|
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter)
|
|
|
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)
|
|
|
NM_000080.4(CHRNE):c.344+1G>A
|
rs879253722
|
|
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
|
|
|
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter)
|
rs1187421976
|
|
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter)
|
rs894382905
|
|
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)
|
|
|
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)
|
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs)
|
rs2151098295
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs)
|
rs1597621353
|
|
NM_000080.4(CHRNE):c.447_459del (p.Val150fs)
|
rs1970005446
|
|
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)
|
rs2151098283
|
|
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)
|
|
|
NM_000080.4(CHRNE):c.46+2del
|
|
|
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter)
|
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.501-16G>A
|
rs879255563
|
|
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter)
|
|
|
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)
|
|
|
NM_000080.4(CHRNE):c.551dup (p.Asn184fs)
|
|
|
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
|
|
|
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)
|
|
|
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter)
|
|
|
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs)
|
rs2151097742
|
|
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs)
|
rs1969973509
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs)
|
rs1969972830
|
|
NM_000080.4(CHRNE):c.647_653dup (p.His218fs)
|
rs2151097420
|
|
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)
|
|
|
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter)
|
|
|
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)
|
rs1597619440
|
|
NM_000080.4(CHRNE):c.687del (p.Asp229fs)
|
|
|
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)
|
rs1567638676
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.750_751del (p.Val252fs)
|
|
|
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)
|
rs1555546765
|
|
NM_000080.4(CHRNE):c.790del (p.Leu264fs)
|
|
|
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser)
|
rs2151097209
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.794del (p.Pro265fs)
|
rs756675414
|
|
NM_000080.4(CHRNE):c.802+1G>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>C
|
rs2151097188
|
|
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)
|
|
|
NM_000080.4(CHRNE):c.829dup (p.Ile277fs)
|
rs2151097082
|
|
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe)
|
rs1597618854
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs)
|
rs1567638401
|
|
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro)
|
rs121909510
|
|
NM_000080.4(CHRNE):c.852del (p.Val285fs)
|
|
|
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala)
|
rs1597618787
|
|
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)
|
rs121909511
|
|
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
|
|
|
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
|
|
|
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
|
|
|
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
|
|
|
NM_000080.4(CHRNE):c.892_894del (p.Ser298del)
|
rs398122830
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly)
|
rs1969955431
|
|
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)
|
rs2151096983
|
|
NM_000080.4(CHRNE):c.918-1G>A
|
rs1407243713
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)
|
|
|