NM_003126.4(SPTA1):c.6531-12C>T
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rs28525570
|
0.25447
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NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)
|
rs7418956
|
0.01431
|
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
|
rs121918643
|
0.00019
|
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg)
|
rs121918644
|
0.00011
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)
|
rs121918636
|
0.00003
|
NM_003126.4(SPTA1):c.6788+11C>T
|
rs779537034
|
0.00002
|
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val)
|
rs121918638
|
0.00001
|
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro)
|
rs121918635
|
0.00001
|
NM_003126.4(SPTA1):c.178C>T (p.Arg60Ter)
|
rs373695294
|
0.00001
|
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)
|
rs751026146
|
0.00001
|
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter)
|
rs755630903
|
0.00001
|
NM_003126.4(SPTA1):c.2806-13T>G
|
rs757147440
|
0.00001
|
NM_003126.4(SPTA1):c.4180del (p.Cys1394fs)
|
rs779174182
|
0.00001
|
NM_003126.4(SPTA1):c.4339-2A>C
|
rs368931075
|
0.00001
|
NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter)
|
rs1394141324
|
0.00001
|
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)
|
rs121918642
|
0.00001
|
GRCh37/hg19 1q23.1(chr1:158655335-158667812)
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|
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NG_011474.1:g.11070_11071insSVAelement
|
|
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NM_003126.2(SPTA1):c.5190_5310del
|
rs754614154
|
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NM_003126.4(SPTA1):c.1055G>A (p.Trp352Ter)
|
|
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NM_003126.4(SPTA1):c.1120C>T (p.Arg374Ter)
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|
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NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp)
|
rs121918640
|
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NM_003126.4(SPTA1):c.1350+1G>C
|
|
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NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser)
|
rs121918637
|
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NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe)
|
rs121918639
|
|
NM_003126.4(SPTA1):c.1460_1463dup (p.Asp489fs)
|
rs2101916656
|
|
NM_003126.4(SPTA1):c.1778del (p.Asp593fs)
|
rs2101908951
|
|
NM_003126.4(SPTA1):c.1790G>A (p.Trp597Ter)
|
|
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NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
|
NM_003126.4(SPTA1):c.1850dup (p.Ser618fs)
|
rs1553234309
|
|
NM_003126.4(SPTA1):c.1867C>T (p.Gln623Ter)
|
|
|
NM_003126.4(SPTA1):c.2053G>T (p.Glu685Ter)
|
|
|
NM_003126.4(SPTA1):c.2319C>A (p.Cys773Ter)
|
|
|
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)
|
rs2022057
|
|
NM_003126.4(SPTA1):c.24+1G>A
|
rs772644757
|
|
NM_003126.4(SPTA1):c.2464G>T (p.Gly822Ter)
|
|
|
NM_003126.4(SPTA1):c.2465-1G>A
|
rs863223305
|
|
NM_003126.4(SPTA1):c.2506A>T (p.Arg836Ter)
|
|
|
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter)
|
|
|
NM_003126.4(SPTA1):c.27del (p.Val10fs)
|
|
|
NM_003126.4(SPTA1):c.2806-3_2806-1del
|
rs1652849551
|
|
NM_003126.4(SPTA1):c.2818A>T (p.Lys940Ter)
|
rs1652848700
|
|
NM_003126.4(SPTA1):c.2920del (p.Glu974fs)
|
|
|
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)
|
rs539524312
|
|
NM_003126.4(SPTA1):c.2954del (p.Leu985fs)
|
|
|
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
|
|
|
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)
|
rs762088983
|
|
NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter)
|
rs1652590413
|
|
NM_003126.4(SPTA1):c.3188+5G>A
|
rs1557961718
|
|
NM_003126.4(SPTA1):c.3257del (p.Leu1086fs)
|
rs1652531375
|
|
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter)
|
rs1553231217
|
|
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
|
|
|
NM_003126.4(SPTA1):c.3477+1G>C
|
rs2101857591
|
|
NM_003126.4(SPTA1):c.3823C>T (p.Gln1275Ter)
|
rs1652094925
|
|
NM_003126.4(SPTA1):c.4076_4077del (p.Gly1359fs)
|
|
|
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
|
|
|
NM_003126.4(SPTA1):c.4201C>T (p.Gln1401Ter)
|
rs866240607
|
|
NM_003126.4(SPTA1):c.4339-99C>T
|
rs200830867
|
|
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
|
|
|
NM_003126.4(SPTA1):c.4408G>T (p.Glu1470Ter)
|
|
|
NM_003126.4(SPTA1):c.4443-1G>A
|
|
|
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter)
|
rs1651716612
|
|
NM_003126.4(SPTA1):c.4603C>T (p.Gln1535Ter)
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
NM_003126.4(SPTA1):c.4614C>G (p.Tyr1538Ter)
|
|
|
NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs)
|
rs754501564
|
|
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter)
|
|
|
NM_003126.4(SPTA1):c.481C>T (p.Gln161Ter)
|
rs1654812809
|
|
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
|
|
|
NM_003126.4(SPTA1):c.5212_5213dup (p.Gln1739fs)
|
|
|
NM_003126.4(SPTA1):c.5245C>T (p.Gln1749Ter)
|
|
|
NM_003126.4(SPTA1):c.5281G>T (p.Glu1761Ter)
|
|
|
NM_003126.4(SPTA1):c.531+1G>A
|
|
|
NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter)
|
rs763899069
|
|
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
|
|
|
NM_003126.4(SPTA1):c.5530C>T (p.Arg1844Ter)
|
|
|
NM_003126.4(SPTA1):c.5950A>T (p.Arg1984Ter)
|
rs886041244
|
|
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
|
|
|
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
|
|
|
NM_003126.4(SPTA1):c.6335T>G (p.Leu2112Ter)
|
|
|
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)
|
rs2101942740
|
|
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs)
|
rs1649424538
|
|
NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer)
|
rs1396249069
|
|
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser)
|
rs121918642
|
|
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)
|
rs121918641
|
|
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)
|
rs121918641
|
|
NM_003126.4:c.47854delG
|
|
|