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注释的变体摘要6645(本栏目收费,不能显示细节,电话15274084725)
注释的变体摘要
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NC_000017.11:g.3583408G>A, NC_000017.10:g.3486702=, NG_029716.1:g.31004=, NC_000017.11:g.3583408=, NG_029716.1:g.31004C>T, NP_061197.4:p.Thr469=, NP_061197.4:p.Thr469Ile, 224534, 60157790, rs224534, NC_000017.10:g.3486702G>A
43
2245360, NG_008690.2:g.122645=, 58368772, NC_000012.11:g.103234544G>A, NC_000012.12:g.102840766G>A, 56435151, rs2245360, NG_008690.2:g.122645C>T, NC_000012.12:g.102840766=, 17545081, NC_000012.11:g.103234544=
44
61193957, NC_000003.12:g.45708230=, rs56439728, 2245705, NC_000003.11:g.45749722T>C, NM_014016.4:c.334-1268T>C, XM_005264965.1:c.151-1268T>C, XR_245103.1:n.444-1268T>C, XM_011533499.1:c.151-1268T>C, XR_940392.1:n.444-1268T>C, NC_000003.11:g.45749722=, NM_001319073.1:c.25-1268T>C, 56439728, NM_001319072.1:c.151-1268T>C, XM_011533500.1:c.151-1268T>C, rs61193957, NC_000003.12:g.45708230T>C, rs2245705
45
NC_000004.11:g.15939915C>A, NC_000004.12:g.15938292C>A, 57335724, NM_005130.4:c.-62G>C, 2245964, NC_000004.11:g.15939915C>G, NC_000004.12:g.15938292C>G, rs57335724, NC_000004.12:g.15938292=, rs2245964, NC_000004.11:g.15939915C>T, NC_000004.11:g.15939915=, NC_000004.12:g.15938292C>T
46
NG_008421.1:g.21090T>C, 56901335, XM_011515841.1:c.670+258T>C, NC_000007.14:g.99768096A>G, NM_001202855.2:c.670+258T>C, NG_008421.1:g.21090=, NC_000007.13:g.99365719A>G, XM_011515842.1:c.670+258T>C, NC_000007.14:g.99768096=, rs2246709, rs56901335, NM_017460.5:c.670+258T>C, 2246709, NC_000007.13:g.99365719=
47
NC_000010.11:g.33200124G>A, NM_001244972.1:c.1844-2415C>T, NC_000010.11:g.33200124G>C, XM_006717522.1:c.1865-2415C>T, NC_000010.11:g.33200124=, NG_030328.1:g.139782=, rs2247383, 2247383, XM_006717521.1:c.1865-2415C>T, rs60997093, NM_001244973.1:c.1844-2415C>T, XM_006717526.1:c.1865-2415C>T, NR_045259.1:n.2185-2415C>T, NM_001024628.2:c.1865-2415C>T, NC_000010.10:g.33489052=, NG_030328.1:g.139782C>T, 60997093, NM_003873.5:c.1865-2415C>T, XM_006717525.1:c.1760-2415C>T, XM_011519755.1:c.1844-2415C>T, XM_011519756.1:c.1760-2415C>T, XM_006717524.1:c.1760-2415C>T, NG_030328.1:g.139782C>G, XM_006717523.1:c.1865-2415C>T, NM_001024629.2:c.1760-2415C>T, rs17599532, NC_000010.10:g.33489052G>A, 17599532, NC_000010.10:g.33489052G>C
48
NM_001289047.1:c.-324-8665A>G, NG_009384.2:g.112474=, NM_001289039.1:c.-5+7662A>G, NM_001289048.1:c.-325+3344A>G, NM_001080953.2:c.-325+3344A>G, NM_001289049.1:c.-325+3344A>G, NM_006718.4:c.-325+3344A>G, NM_001080952.2:c.-325+3344A>G, NM_001289041.1:c.-5+3344A>G, NC_000006.12:g.143957125=, XM_005267022.1:c.-325+3344A>G, NM_001289037.1:c.-5+3344A>G, XM_005267023.1:c.-5+3344A>G, XM_005267028.1:c.-5+3344A>G, NM_001317161.1:c.-325+3344A>G, NM_001289045.1:c.-325+3344A>G, NG_009384.1:g.112474=, NC_000006.11:g.144278262=, NM_001317158.1:c.-5+3344A>G, XM_005267034.1:c.-5+7662A>G, NM_001080951.2:c.-325+3344A>G, XM_005267029.1:c.-5+3344A>G, NC_000006.11:g.144278262T>C, NM_001317156.1:c.-325+3344A>G, NM_001317159.1:c.-325+3344A>G, XM_005267033.1:c.-5+7662A>G, XM_005267020.1:c.-325+3344A>G, NM_001080954.2:c.-325+3344A>G, NM_001080956.2:c.-5+3344A>G, NM_001289042.1:c.-325+7662A>G, NM_001289043.1:c.-325+3344A>G, NM_001289040.1:c.-5+3344A>G, NM_001080955.2:c.-5+3344A>G, NM_001289044.1:c.-325+3344A>G, NM_001317162.1:c.-325+3344A>G, XM_005267027.1:c.-5+3344A>G, rs2247408, NM_001317157.1:c.-325+3344A>G, 2247408, XM_005267032.1:c.-5+3344A>G, NM_002656.3:c.-5+3344A>G, NC_000006.12:g.143957125T>C, XM_005267031.1:c.-5+3344A>G, XM_005267021.1:c.-325+3344A>G, NM_001289046.1:c.-325+3344A>G, XM_005267026.1:c.-5+7662A>G, NM_001289038.1:c.-5+3344A>G, XM_005267024.1:c.-5+3344A>G, XM_005267030.1:c.-5+3344A>G, NG_009384.1:g.112474A>G, NG_009384.2:g.112474A>G, NM_001317160.1:c.-5+3344A>G, XM_005267025.1:c.-5+3344A>G
49
XP_005260124.1:p.Glu394=, NC_000019.10:g.13334394C>T, XP_005260123.1:p.Glu394=, rs117938552, NG_011569.1:g.177067G>A, XP_005260122.1:p.Glu394=, NC_000019.9:g.13445208=, NG_011569.1:g.177067G>C, NP_000059.3:p.Glu394Asp, NC_000019.10:g.13334394C>G, 117938552, XM_005260068.1:c.1182G>A, NP_001120693.1:p.Glu394=, XM_005260067.1:c.1182G>A, NC_000019.9:g.13445208C>T, NM_001127222.1:c.1182G>A, NP_001120694.1:p.Glu394=, XM_005260065.1:c.1182G>A, XM_005260066.1:c.1182G>A, NC_000019.10:g.13334394=, NP_000059.3:p.Glu394=, NM_001127221.1:c.1182G>A, NC_000019.9:g.13445208C>G, NG_011569.1:g.177067=, rs2248069, 2248069, NM_001174080.1:c.1182G>A, 61294915, NP_001167551.1:p.Glu394=, NP_075461.2:p.Glu394=, rs61294915, XP_005260125.1:p.Glu394=, NM_000068.3:c.1182G>A, NM_023035.2:c.1182G>A
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NC_000001.11:g.44002563G>A, XR_246291.1:n.929C>T, NC_000001.10:g.44468235G>A, 60350310, NC_000001.10:g.44468235=, NP_008865.2:p.Asp288=, NR_048549.1:n.790C>T, XM_005271146.1:c.474C>T, NM_201649.3:c.1026C>T, rs60350310, NP_001248309.1:p.Asp273=, 117495843, NP_001020016.1:p.Asp269=, rs117495843, XP_011540319.1:p.Asp342=, NM_001261380.1:c.819C>T, NG_050929.1:g.33930C>T, NM_001024845.2:c.807C>T, NP_964012.2:p.Asp342=, NG_050929.1:g.33930=, XP_005271203.1:p.Asp158=, NM_006934.3:c.864C>T, XP_005271202.1:p.Asp328=, NR_048548.1:n.1071C>T, NC_000001.11:g.44002563=, XM_005271145.1:c.984C>T, rs2248829, 2248829, XM_011542017.1:c.1026C>T
52
NC_000013.11:g.30463766G>T, XR_941568.1:n.143-72C>G, XM_005266364.1:c.-14-72C>G, XM_011535055.1:c.-14-72C>G, 17662811, XM_005266366.1:c.-14-72C>G, NC_000013.11:g.30463766G>C, NC_000013.11:g.30463766G>A, NM_002128.5:c.-14-72C>G, rs2249825, 2249825, NM_001313892.1:c.-14-72C>G, 60468656, XM_005266363.1:c.-14-72C>G, XM_011535056.1:c.-14-72C>G, NC_000013.10:g.31037903G>A, NC_000013.10:g.31037903=, NC_000013.10:g.31037903G>C, XM_005266368.1:c.-14-72C>G, XM_005266365.1:c.-14-72C>G, NC_000013.11:g.30463766=, rs60468656, XM_005266367.1:c.-14-72C>G, rs17662811, NC_000013.10:g.31037903G>T, NM_001313893.1:c.-14-72C>G
53
NM_001242502.1:c.*75A>G, rs17846619, 58487938, 225820, NM_001007023.3:c.382A>G, 116842360, NP_054644.1:p.Thr92Ala, NC_000014.8:g.80669580=, NM_001242503.1:c.*75A>G, 225014, NC_000014.9:g.80203237=, NP_000784.3:p.Thr92=, NC_000014.9:g.80203237T>C, rs17859709, 52803747, 17846619, rs225014, 386562542, NP_001007024.1:p.Thr128Ala, rs3815549, 3815549, NM_000793.5:c.274A>G, NP_000784.3:p.Thr92Ala, rs52803747, 17859709, rs116842360, NC_000014.8:g.80669580T>C, rs58487938, rs386562542, rs225820, NM_013989.4:c.274A>G, NP_000784.2:p.Thr92Ala
54
XR_929846.1:n.4036T>C, XM_005252247.1:c.3907T>C, XP_011517365.1:p.Ser1184Pro, XP_005252305.1:p.Ser1271Pro, XM_005252245.1:c.3907T>C, NP_001304881.1:p.Ser1184Pro, XM_005252246.1:c.3907T>C, NC_000009.11:g.117103973A>C, NP_001304879.1:p.Ser1303Pro, rs17857447, XP_011517362.1:p.Ser1252Pro, XM_011519063.1:c.3550T>C, XM_005252244.1:c.3907T>C, XP_005252300.1:p.Ser1303Pro, NP_110394.3:p.Ser1303=, XM_005252243.1:c.3907T>C, NC_000009.11:g.117103973A>G, NC_000009.12:g.114341693=, NP_110394.3:p.Ser1303Ala, XP_011517367.1:p.Ser1262Pro, XP_005252303.1:p.Ser1303Pro, 59133154, XM_011519062.1:c.3664T>C, XM_011519065.1:c.3784T>C, rs116882987, NP_110394.3:p.Ser1303Pro, XR_929844.1:n.4143T>C, XR_929845.1:n.4143T>C, XM_006717294.1:c.3907T>C, 2250242, XM_005252247.3:c.3907T>C, XP_005252302.1:p.Ser1303Pro, rs52828574, NC_000009.12:g.114341693A>G, NM_001317952.1:c.3550T>C, XP_011517364.1:p.Ser1222Pro, XM_011519059.1:c.3907T>C, XP_005252301.1:p.Ser1303Pro, NC_000009.12:g.114341693A>C, NM_030767.5:c.3907T>C, XP_011517361.1:p.Ser1303Pro, rs59133154, NM_001317950.1:c.3907T>C, XP_005252304.1:p.Ser1303Pro, XM_011519060.1:c.3754T>C, NC_000009.11:g.117103973A>T, 116882987, XM_011519061.1:c.3706T>C, XP_006717357.1:p.Ser1303Pro, NP_110394.3:p.Ser1303Thr, 17857447, XP_011517363.1:p.Ser1236Pro, XM_005252244.2:c.3907T>C, 52828574, NC_000009.12:g.114341693A>T, XM_005252248.1:c.3811T>C, NC_000009.11:g.117103973=, rs2250242
55
NC_000019.10:g.6718523T>C, NG_009557.1:g.7129=, rs386562560, NG_009557.1:g.7129A>G, NC_000019.9:g.6718534=, rs57061109, rs2250656, 2250656, NC_000019.9:g.6718534T>C, NM_000064.3:c.268-111A>G, NC_000019.10:g.6718523=, NM_000064.2:c.268-111A>G, 386562560, 57061109
58
XR_940392.1:n.142+795T>C, NC_000003.12:g.45690292T>C, NM_014016.4:c.32+795T>C, XM_005264965.1:c.-24+795T>C, 3774665, NC_000003.11:g.45731784T>G, XR_245103.1:n.142+795T>C, NC_000003.12:g.45690292T>G, NC_000003.11:g.45731784T>C, NM_001319073.1:c.-317-56T>C, NM_001319072.1:c.-24+795T>C, 60407120, XM_011533499.1:c.-24+795T>C, rs3774665, NC_000003.12:g.45690292=, NR_033947.1:n.-1410A>G, NC_000003.11:g.45731784=, XM_011533500.1:c.-63-56T>C, rs2251954, 2251954, rs60407120
59
rs2252281, XM_005256710.1:c.-66T>C, NC_000017.11:g.19533874=, 2252281, NC_000017.10:g.19437187=, XM_005256712.1:c.-66T>C, XM_005256713.1:c.-66T>C, XM_005256714.1:c.-66T>C, NM_018242.2:c.-66T>C, NC_000017.10:g.19437187T>C, XM_005256711.1:c.-66T>C, NC_000017.11:g.19533874T>C
60
NC_000010.10:g.79356397=, NC_000010.10:g.79356397G>C, 386562662, NG_012270.1:g.46181C>T, NG_012270.1:g.46181C>G, NC_000010.11:g.77596639G>C, 59802225, NC_000010.11:g.77596639=, NC_000010.11:g.77596639G>A, NG_012270.1:g.46181=, NC_000010.10:g.79356397G>A, rs2253201, 2253201