NM_000518.4(HBB):c.*233G>C
|
rs12788013
|
0.10429
|
NM_000518.5(HBB):c.316-70C>G
|
rs193922560
|
0.00099
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)
|
rs35256489
|
0.00002
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
NM_000518.5(HBB):c.316-238C>T
|
rs558554234
|
0.00001
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
Hb Little Rock
|
rs36020563
|
|
NC_000011.10:g.(?_5225365)_(5225905_?)del
|
|
|
NC_000011.10:g.5218346_5226066del
|
|
|
NG_000007.3(HBB):g.71609_72227del
|
rs1847516043
|
|
NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA
|
rs1847513733
|
|
NM_000518.4(HBB):c.320T>A (p.Leu107Gln)
|
rs33941844
|
|
NM_000518.4(HBB):c.320T>G (p.Leu107Arg)
|
rs33941844
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.4(HBB):c.374C>A (p.Pro125Gln)
|
rs33983276
|
|
NM_000518.4(HBB):c.383A>G (p.Gln128Arg)
|
rs33910569
|
|
NM_000518.4(HBB):c.422C>T (p.Ala141Val)
|
rs33927093
|
|
NM_000518.4(HBB):c.428C>A (p.Ala143Asp)
|
rs33921821
|
|
NM_000518.4(HBB):c.439C>G (p.His147Asp)
|
rs33961444
|
|
NM_000518.4(HBB):c.440A>C (p.His147Pro)
|
rs33954264
|
|
NM_000518.4(HBB):c.440A>T (p.His147Leu)
|
rs33954264
|
|
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
|
|
|
NM_000518.5(HBB):c.*108A>G
|
rs1847518799
|
|
NM_000518.5(HBB):c.*110T>A
|
rs33978907
|
|
NM_000518.5(HBB):c.*110_*111del
|
rs63750205
|
|
NM_000518.5(HBB):c.*110_*111insG
|
|
|
NM_000518.5(HBB):c.*110_*114del
|
rs35949130
|
|
NM_000518.5(HBB):c.*112A>G
|
rs63750954
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
NM_000518.5(HBB):c.*115_*116del
|
rs281864532
|
|
NM_000518.5(HBB):c.*116del
|
|
|
NM_000518.5(HBB):c.*32A>C
|
rs1847520793
|
|
NM_000518.5(HBB):c.*6C>G
|
rs34809925
|
|
NM_000518.5(HBB):c.*93_*105del
|
rs34171453
|
|
NM_000518.5(HBB):c.316-146T>G
|
rs35328027
|
|
NM_000518.5(HBB):c.316-149_*132del
|
rs1589891039
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.316-1G>A
|
rs33952266
|
|
NM_000518.5(HBB):c.316-1G>C
|
rs33952266
|
|
NM_000518.5(HBB):c.316-1G>T
|
rs33952266
|
|
NM_000518.5(HBB):c.316-1del
|
rs63750692
|
|
NM_000518.5(HBB):c.316-202del
|
rs1847537515
|
|
NM_000518.5(HBB):c.316-2A>C
|
rs33914668
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.316-3C>G
|
rs33913413
|
|
NM_000518.5(HBB):c.316-8T>G
|
rs34793594
|
|
NM_000518.5(HBB):c.316-98_316-86dup
|
rs1847534434
|
|
NM_000518.5(HBB):c.316_*132del (p.Leu106_Ter148del)
|
rs1847517857
|
|
NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del)
|
rs1847521496
|
|
NM_000518.5(HBB):c.319C>G (p.Leu107Val)
|
rs63750596
|
|
NM_000518.5(HBB):c.323dup (p.Asn109fs)
|
rs35225141
|
|
NM_000518.5(HBB):c.328G>A (p.Val110Met)
|
rs33969677
|
|
NM_000518.5(HBB):c.328G>C (p.Val110Leu)
|
rs33969677
|
|
NM_000518.5(HBB):c.328del (p.Val110fs)
|
rs63751201
|
|
NM_000518.5(HBB):c.337T>C (p.Cys113Arg)
|
rs35849199
|
|
NM_000518.5(HBB):c.339T>A (p.Cys113Ter)
|
rs33930977
|
|
NM_000518.5(HBB):c.339_345dup (p.Ala116fs)
|
rs281864527
|
|
NM_000518.5(HBB):c.340del (p.Val114fs)
|
|
|
NM_000518.5(HBB):c.342dup (p.Leu115fs)
|
|
|
NM_000518.5(HBB):c.343_344delinsG (p.Leu115fs)
|
rs41443947
|
|
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)
|
rs36015961
|
|
NM_000518.5(HBB):c.345_348dup (p.His117fs)
|
|
|
NM_000518.5(HBB):c.347C>A (p.Ala116Asp)
|
rs35485099
|
|
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)
|
rs63751306
|
|
NM_000518.5(HBB):c.354del (p.Phe119fs)
|
rs281864528
|
|
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)
|
rs34726542
|
|
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)
|
rs33946267
|
|
NM_000518.5(HBB):c.371_378del (p.Thr124fs)
|
rs1554917561
|
|
NM_000518.5(HBB):c.375dup (p.Pro126fs)
|
rs281864544
|
|
NM_000518.5(HBB):c.378del (p.Val127fs)
|
rs34363638
|
|
NM_000518.5(HBB):c.380T>A (p.Val127Glu)
|
rs33925391
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
NM_000518.5(HBB):c.380_396del (p.Val127fs)
|
rs750606223
|
|
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
|
|
|
NM_000518.5(HBB):c.383A>C (p.Gln128Pro)
|
rs33910569
|
|
NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro)
|
rs34502690
|
|
NM_000518.5(HBB):c.393T>A (p.Tyr131Ter)
|
rs281864530
|
|
NM_000518.5(HBB):c.394C>T (p.Gln132Ter)
|
rs33910209
|
|
NM_000518.5(HBB):c.394_404del (p.Gln132fs)
|
|
|
NM_000518.5(HBB):c.395dup (p.Lys133fs)
|
rs281864531
|
|
NM_000518.5(HBB):c.397A>T (p.Lys133Ter)
|
rs33953406
|
|
NM_000518.5(HBB):c.404T>A (p.Val135Glu)
|
rs33966761
|
|
NM_000518.5(HBB):c.417dup (p.Asn140Ter)
|
rs1847523960
|
|
NM_000518.5(HBB):c.421G>A (p.Ala141Thr)
|
rs34980264
|
|
NM_000518.5(HBB):c.429_430del (p.His144fs)
|
rs281864497
|
|
NM_000518.5(HBB):c.431A>C (p.His144Pro)
|
rs33918338
|
|
NM_000518.5(HBB):c.431A>G (p.His144Arg)
|
rs33918338
|
|
NM_000518.5(HBB):c.435G>C (p.Lys145Asn)
|
rs35020585
|
|
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)
|
rs33949869
|
|
NM_000518.5(HBB):c.436T>C (p.Tyr146His)
|
rs33949869
|
|
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys)
|
rs35117167
|
|
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter)
|
rs35291591
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]
|
|
|