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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
182
NG_012462.1:g.12655A>G, 117504102, NC_000001.10:g.173878862T>C, NP_000479.1:p.Val327=, NG_012462.1:g.12655=, NC_000001.11:g.173909724T>A, rs5877, 3189866, NC_000001.11:g.173909724T>C, NG_012462.1:g.12655A>T, NC_000001.11:g.173909724=, NC_000001.10:g.173878862=, NC_000001.10:g.173878862T>A, 5877, 56765643
184
XM_005274333.2:c.1629+510C>G, XM_005274335.2:c.1614+510C>G, NM_001008660.2:c.1629+510C>G, XM_011545293.1:c.1521+510C>G, XM_005274328.2:c.1764+510C>G, XM_005274330.2:c.1629+510C>G, XM_005274325.1:c.1764+510C>G, XM_005274325.2:c.1764+510C>G, XM_005274331.1:c.1779+510C>G, NG_028942.1:g.94262=, XM_005274336.1:c.1614+510C>G, 1972098, 56629343, XM_005274332.2:c.1614+510C>G, XM_005274326.2:c.1779+510C>G, NC_000011.9:g.85691662G>T, XM_005274337.1:c.1779+510C>G, rs1972098, 58840284, XM_006718701.2:c.1758+510C>G, NG_028942.1:g.94262C>A, XM_006718700.2:c.1743+510C>G, XM_005274324.1:c.1779+510C>G, rs588076, XM_005274327.1:c.1779+510C>G, XM_005274328.1:c.1764+510C>G, NC_000011.10:g.85980619=, XM_005274332.1:c.1614+510C>G, XM_005274339.1:c.1476+510C>G, NM_001206947.1:c.1476+510C>G, XM_005274338.1:c.1422+510C>G, NG_028942.1:g.94262C>T, XM_005274327.2:c.1779+510C>G, XM_005274324.2:c.1779+510C>G, XM_005274340.2:c.1629+510C>G, NG_028942.1:g.94262C>G, NM_001206946.1:c.1758+510C>G, XM_005274335.1:c.1614+510C>G, XM_005274322.1:c.1779+510C>G, XM_005274323.2:c.1764+510C>G, XM_005274334.1:c.1764+510C>G, NC_000011.10:g.85980619G>C, NC_000011.9:g.85691662=, NC_000011.10:g.85980619G>A, XM_005274329.2:c.1764+510C>G, rs56629343, NM_007166.3:c.1779+510C>G, 588076, NC_000011.10:g.85980619G>T, XM_005274340.1:c.1629+510C>G, XM_005274337.2:c.1779+510C>G, XM_005274322.2:c.1779+510C>G, XM_005274323.1:c.1764+510C>G, XM_005274334.2:c.1764+510C>G, XM_005274330.1:c.1629+510C>G, XM_005274333.1:c.1629+510C>G, rs58840284, NC_000011.9:g.85691662G>A, NC_000011.9:g.85691662G>C, XM_005274331.2:c.1779+510C>G, XM_005274336.2:c.1614+510C>G, XM_005274326.1:c.1779+510C>G, XM_005274329.1:c.1764+510C>G, XM_006718699.2:c.1758+510C>G
185
XM_005263355.1:c.1574T>G, NP_004818.2:p.Leu525Arg, XM_005263354.1:c.1574T>G, NG_032067.2:g.138797=, NC_000004.12:g.88097526A>C, XP_005263412.1:p.Leu525Arg, NG_032067.2:g.138797T>G, NM_004827.2:c.1574T>G, NM_001257386.1:c.1574T>G, XM_005263356.2:c.1568T>G, XM_005263354.2:c.1574T>G, 61735384, NP_004818.2:p.Leu525=, XM_011532420.1:c.1574T>G, NC_000004.11:g.89018678=, XM_005263355.2:c.1574T>G, 58818712, NC_000004.12:g.88097526=, NP_001244315.1:p.Leu525Arg, rs58818712, NC_000004.11:g.89018678A>C, XP_005263411.1:p.Leu525Arg, rs61735384, XP_011530722.1:p.Leu525Arg, XM_005263356.1:c.1568T>G, XP_005263413.1:p.Leu523Arg
186
rs3192075, 3192075, NP_000069.2:p.Val422Ile, 5882, NC_000016.9:g.57016092G>C, NC_000016.9:g.57016092G>A, rs1801707, 1801707, NM_000078.2:c.1264G>A, rs12720881, rs1613122, 1613122, 289738, NP_000069.2:p.Val422Leu, NC_000016.10:g.56982180=, XP_005255833.1:p.Val362Ile, rs17231896, rs17858738, 61212082, rs17845778, NP_000069.2:p.Val422=, 17231896, 17858738, NP_001273014.1:p.Val362Ile, XM_005255776.1:c.1084G>A, 17414131, rs5882, NG_008952.1:g.25258G>A, NG_008952.1:g.25258=, rs61212082, rs1131843, 1131843, NG_008952.1:g.25258G>C, 17845778, NC_000016.9:g.57016092=, NC_000016.10:g.56982180G>C, NC_000016.10:g.56982180G>A, rs17414131, NM_001286085.1:c.1084G>A, rs289738, 12720881
187
NC_000016.9:g.57007353C>T, NM_000078.2:c.861C>T, 12720934, NP_000069.2:p.Phe287=, 5883, 17245729, 60749799, rs5883, NC_000016.10:g.56973441C>T, NM_001286085.1:c.750+1358C>T, XM_005255776.1:c.750+1358C>T, rs12720934, NC_000016.9:g.57007353=, NG_008952.1:g.16519=, rs17245729, rs60749799, XM_006721124.2:c.*1222C>T, NC_000016.10:g.56973441=, NG_008952.1:g.16519C>T
188
57119633, NG_046623.1:g.3918_3921=, NC_000007.13:g.27241879_27241880delCT, XR_242057.1:n.1250+473_1250+474delCT, rs376981414, rs10585733, 35545353, NC_000007.13:g.27241879_27241880CT[1], rs146691291, XM_011515344.1:c.-2184_-2183del, 144082126, NR_037843.3:n.1739_1740delCT, NG_008181.2:g.2844_2845AG[1], 72600806, rs33960115, NG_046623.1:g.3918_3919CT[1], rs144082126, rs35545353, NC_000007.13:g.27241879_27241882=, rs148437096, 10585733, NC_000007.14:g.27202260_27202261CT[1], NG_008181.1:g.2844_2845AG[1], rs5883064, 146691291, 33960115, NG_008181.2:g.2844_2847=, NG_008181.1:g.2844_2847=, rs57119633, NC_000007.14:g.27202260_27202261delCT, 376981414, NC_000007.14:g.27202260_27202263=, 5883064, rs5883065, 5883065, NG_008181.1:g.2846_2847delAG, 148437096
189
NG_023328.1:g.12564T>C, 588765, 56956373, NG_023328.1:g.12564=, NG_023328.1:g.12564T>A, NC_000015.10:g.78573083=, XM_011521174.1:c.106+7258T>C, NC_000015.9:g.78865425T>A, NC_000015.10:g.78573083T>A, NG_023328.1:g.12564T>G, NC_000015.10:g.78573083T>C, rs588765, NC_000015.10:g.78573083T>G, XM_005254142.1:c.106+7258T>C, XM_005254142.2:c.106+7258T>C, NM_000745.3:c.106+7258T>C, NC_000015.9:g.78865425T>C, NC_000015.9:g.78865425=, NM_001307945.1:c.106+7258T>C, NC_000015.9:g.78865425T>G, rs56956373
190
XP_005253693.1:p.Ala350=, NG_028199.1:g.68772=, NG_028199.1:g.68772T>A, NG_028199.1:g.68772T>C, rs57373148, 1623782, NC_000012.11:g.125284748=, 3200084, rs3200084, rs2070240, rs838914, 2070240, XM_005253635.1:c.927T>C, XP_005253690.1:p.Ala350=, rs5888, 57373148, NC_000012.12:g.124800202=, rs1059405, NC_000012.12:g.124800202A>G, NM_001082959.1:c.1050T>C, XP_005253694.1:p.Ala313=, rs1623782, XM_005253636.1:c.1050T>C, 12827679, NC_000012.11:g.125284748A>T, XM_005253633.1:c.1050T>C, 838914, 1059405, NC_000012.12:g.124800202A>T, rs17694811, rs12827679, NP_005496.4:p.Ala350=, XM_005253637.1:c.939T>C, XP_005253692.1:p.Ala309=, NC_000012.11:g.125284748A>G, XP_005253691.1:p.Ala309=, XM_005253634.1:c.927T>C, 5888, NM_005505.4:c.1050T>C, 17694811, NP_001076428.1:p.Ala350=
191
NC_000006.11:g.154393138C>T, 60586556, NG_021208.2:g.66503=, NC_000006.12:g.154072003=, NG_021208.2:g.66503C>T, 589046, 386600250, NC_000006.11:g.154393138=, rs589046, 17174715, NC_000006.12:g.154072003C>T
192
NG_008953.1:g.9261C>T, 60714661, NC_000011.10:g.46723453C>G, XR_428840.2:n.538C>T, NM_001311257.1:c.446C>T, 17645388, NG_008953.1:g.9261=, NC_000011.9:g.46745003C>G, NC_000011.10:g.46723453C>T, NC_000011.9:g.46745003=, NP_001298186.1:p.Thr149Met, NP_000497.1:p.Thr165Arg, rs60714661, NM_000506.4:c.494C>T, 3136453, NG_008953.1:g.9261C>G, rs3136453, rs5896, NP_000497.1:p.Thr165Met, NC_000011.10:g.46723453=, 5896, NC_000011.9:g.46745003C>T, NP_000497.1:p.Thr165=, rs17645388
193
NC_000023.11:g.114638137T>C, 17260579, NC_000023.10:g.113872608C>A, NC_000023.11:g.114638137=, NG_012082.2:g.59053T>A, NG_012082.2:g.59053=, rs9698290, 9698290, NC_000023.11:g.114638137T>A, NC_000023.10:g.113872608C>T, NG_012082.2:g.59053T>C
194
rs60006804, rs4081774, 4081774, rs12987016, NM_005805.5:c.-245A>T, 60006804, NC_000002.11:g.162165008=, rs9713, NC_000002.12:g.161308497=, NC_000002.12:g.161308497A>T, 9713, 12987016, NC_000002.11:g.162165008A>T
195
rs59331837, XM_011525661.1:c.-1703T>G, 59331837, NC_000018.10:g.11980461T>G, NM_014214.2:c.-1209T>G, NC_000018.10:g.11980461=, rs971363, NG_028104.1:g.4006T>G, NC_000018.9:g.11980460=, NC_000018.9:g.11980460T>G, NG_028104.1:g.4006=, 971363
196
NG_029113.1:g.11427C>T, NC_000001.11:g.161231784=, NC_000001.10:g.161201574=, 9725457, rs9725457, NC_000001.10:g.161201574G>T, NG_029113.1:g.11427C>A, NC_000001.11:g.161231784G>A, NG_029113.1:g.11427=, NC_000001.10:g.161201574G>A, NC_000001.11:g.161231784G>T
198
386624868, NM_016945.2:c.-212A>G, NC_000007.13:g.122635900T>C, NG_011980.1:g.4855=, 978739, NC_000007.13:g.122635900T>G, 17145286, rs11489653, 11489653, NC_000007.14:g.122995846=, rs17145286, NC_000007.14:g.122995846T>G, NG_011980.1:g.4855A>G, NG_011980.1:g.4855A>C, rs386624868, NC_000007.13:g.122635900=, rs978739, NC_000007.14:g.122995846T>C
200
36213834, XM_011509506.1:c.-886G>A, 56600828, 60165533, NG_012088.1:g.4174=, rs56600828, rs60165533, NG_012088.1:g.4174G>A, rs36213834, NC_000001.10:g.206946666=, NC_000001.11:g.206773321C>T, NC_000001.10:g.206946666C>T, rs1800894, 1800894, NM_000572.2:c.-886G>A, NC_000001.11:g.206773321=