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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
161
4253730, 5766749, rs4253730, NC_000022.11:g.46214512=, NG_012204.1:g.68911A>G, NC_000022.10:g.46610409A>G, NG_012204.1:g.68911=, 17248453, NC_000022.11:g.46214512A>G, NG_012204.2:g.68979=, 57451858, NC_000022.10:g.46610409=, NG_012204.2:g.68979A>G
162
XR_937870.1:n.1271-396G>C, NC_000022.11:g.46234737G>C, NG_012204.2:g.89204=, NM_005036.4:c.1160-396G>C, XM_005261657.1:c.1160-396G>C, XM_005261654.1:c.1160-396G>C, NG_012204.1:g.89136=, XR_937869.1:n.1276-396G>C, XM_005261655.2:c.1160-396G>C, NC_000022.11:g.46234737=, 61046783, NC_000022.11:g.46234737G>T, XM_005261656.1:c.1160-396G>C, rs61046783, XM_011530241.1:c.1160-396G>C, NC_000022.10:g.46630634G>C, rs4253778, XM_005261653.1:c.1160-396G>C, rs17248629, 4253778, XM_011530242.1:c.1160-396G>C, NG_012204.2:g.89204G>C, XM_011530245.1:c.758-396G>C, XM_006724270.2:c.1160-396G>C, XM_005261658.1:c.1160-396G>C, XM_011530240.1:c.1160-396G>C, NM_001001928.2:c.1160-396G>C, NC_000022.10:g.46630634=, NG_012204.1:g.89136G>T, 57323063, XM_005261655.1:c.1160-396G>C, NC_000022.10:g.46630634G>T, XM_011530239.1:c.1160-396G>C, XM_011530243.1:c.1160-396G>C, 17248629, NG_012204.2:g.89204G>T, XM_005261656.2:c.1160-396G>C, XM_006724269.2:c.1160-396G>C, XM_011530244.1:c.758-396G>C, rs57323063, NG_012204.1:g.89136G>C, XR_244379.1:n.1184-396G>C
163
NC_000015.10:g.55263404A>G, NG_009103.1:g.31400T>C, NC_000015.10:g.55263404=, NC_000015.10:g.55263404A>T, NC_000015.9:g.55555602=, rs4261468, 4261468, 57242104, NC_000015.9:g.55555602A>T, NG_009103.1:g.31400T>A, NC_000015.9:g.55555602A>G, NG_009103.1:g.31400=
164
NG_002601.2:g.99728G>T, 58252906, NC_000002.12:g.233684471=, rs4261716, NM_019075.2:c.855+47094G>T, 4261716, NM_019077.2:c.855+1679G>T, XR_241241.1:n.941+11682G>T, 17683792, NC_000002.12:g.233684471G>T, XM_005246081.1:c.855+1679G>T, NM_021027.2:c.855+11682G>T, NC_000002.11:g.234593117=, rs17683792, NG_002601.2:g.99728=, rs58252906, NM_019076.4:c.855+65909G>T, NC_000002.11:g.234593117G>T
165
rs59254920, rs2268639, NC_000006.11:g.39050622T>A, XR_926153.1:n.1284+2107T>A, NC_000006.12:g.39082846T>A, NC_000006.11:g.39050622=, 2268639, XR_926155.1:n.1284+2107T>A, NM_002062.3:c.1224+2107T>A, NC_000006.12:g.39082846=, XR_241888.1:n.1284+2107T>A, XR_241889.1:n.1284+2107T>A, XR_926154.1:n.1284+2107T>A, 59254920
166
NC_000017.11:g.40098436T>C, NC_000017.10:g.38254689=, 386562981, NG_033084.1:g.7290A>G, NM_021724.4:c.32-1033A>G, 57192040, rs2269457, 2269457, NC_000017.10:g.38254689T>C, NG_033084.1:g.7290=, rs386562981, rs57192040, NC_000017.11:g.40098436=
167
NG_012266.1:g.4804C>T, XM_011530435.1:c.-194+32G>C, 61323997, NC_000022.10:g.29196757=, rs2269577, 2269577, NC_000022.11:g.28800769G>A, NC_000022.11:g.28800769G>C, NG_012266.1:g.4804C>G, NM_005080.3:c.-245C>G, NG_012266.1:g.4804=, NC_000022.10:g.29196757G>C, XM_011530436.1:c.-262+32G>C, NC_000022.11:g.28800769=, NM_001079539.1:c.-245C>G, rs61323997, NC_000022.10:g.29196757G>A
168
NC_000019.10:g.2194897T>C, XM_005259659.1:c.651+320T>C, XM_005259659.2:c.651+320T>C, rs58400820, XM_005259660.1:c.651+320T>C, NC_000019.10:g.2194897T>G, NM_032482.2:c.651+320T>C, NC_000019.9:g.2194896=, NG_029793.1:g.35749=, XM_005259660.2:c.651+320T>C, rs2269879, XM_011528360.1:c.441+320T>C, 2269879, NG_029793.1:g.35749T>G, rs52816020, XM_011528359.1:c.651+320T>C, NC_000019.10:g.2194897=, NG_029793.1:g.35749T>C, 58400820, NC_000019.9:g.2194896T>C, NC_000019.9:g.2194896T>G, XM_006722923.2:c.31+320T>C, 52816020
169
NC_000010.10:g.96580338C>T, NG_008384.3:g.62901C>T, rs58259047, NC_000010.10:g.96580338=, NP_000760.1:p.Thr302Ile, NC_000010.11:g.94820581C>G, NC_000010.10:g.96580338C>G, 58259047, NG_008384.3:g.62901C>G, NP_000760.1:p.Thr302Arg, NC_000010.11:g.94820581=, NC_000010.11:g.94820581C>T, NG_008384.3:g.62901=, NP_000760.1:p.Thr302=
170
NC_000012.12:g.21204777C>G, NC_000012.12:g.21204777C>T, NC_000012.11:g.21357711C>T, NG_011745.1:g.78584C>G, NC_000012.12:g.21204777=, NC_000012.11:g.21357711=, NC_000012.11:g.21357711C>G, NG_011745.1:g.78584C>T, NG_011745.1:g.78584=, 58310495, rs58310495
173
NG_007929.1:g.22762G>C, NC_000019.10:g.41009060G>C, NC_000019.9:g.41514965G>C, 58425034, XM_011526547.1:c.646-159G>C, XM_011526549.1:c.55-159G>C, XM_005258569.3:c.646-159G>C, XM_005258569.1:c.646-159G>C, XM_005258571.1:c.365-3238G>C, NM_000767.4:c.646-159G>C, XM_005258570.1:c.646-159G>C, XM_006723050.2:c.646-159G>C, XM_011526548.1:c.485-3238G>C, rs58425034, XM_011526546.1:c.646-159G>C, XM_011526550.1:c.365-3238G>C
174
XM_011512388.1:c.2251-10262del, rs61258357, NG_016019.1:g.49959_49960=, XM_011512391.1:c.1981-10262del, NC_000003.11:g.151057585_151057586=, XM_011512395.1:c.2251-10262del, NM_053002.5:c.2146-10262delT, NC_000003.12:g.151339797delT, 62925561, rs36034530, 869089115, XM_011512394.1:c.2251-10262del, 371514260, rs138705134, XM_011512393.1:c.2251-10262del, XM_011512399.1:c.2251-10262del, 372790921, NC_000003.12:g.151339798del, NG_016019.1:g.49960del, rs5853517, NC_000003.12:g.151339797_151339798=, NC_000003.11:g.151057585delT, NM_022788.4:c.-15+799delA, NM_176876.2:c.-15+799del, 138705134, 5853517, NC_000003.11:g.151057586del, XM_011512396.1:c.676-10262del, NG_021244.1:g.257911del, XM_011512390.1:c.2146-10262del, XM_011512389.1:c.2146-10262del, XM_006713487.2:c.2251-10262del, NM_022788.4:c.-15+799del, XM_011512392.1:c.1795-10262del, XM_005247096.1:c.2251-10262delT, rs371514260, XM_011512387.1:c.2251-10262del, NM_176876.2:c.-15+799delA, 869198846, rs372790921, 61258357, NM_053002.5:c.2146-10262del, NG_016019.1:g.49960delA, XM_011512386.1:c.2251-10262del, XM_011512398.1:c.46-10262del, rs62925561, NG_021244.1:g.257910_257911=, 36034530, NG_021244.1:g.257910delT
176
12873693, 56639674, 17068215, rs61175516, 61175516, rs56639674, NC_000013.10:g.47056399C>T, NC_000013.11:g.46482264=, NC_000013.10:g.47056399=, rs12873693, 585719, rs17068215, NC_000013.11:g.46482264C>T, rs585719
177
NC_000002.11:g.234581346=, NP_066307.1:p.Asp256=, NG_002601.2:g.87957=, 58597806, XR_241241.1:n.852G>A, NP_066307.1:p.Asp256Asn, NC_000002.11:g.234581346G>A, NM_019075.2:c.855+35323G>A, NM_019076.4:c.855+54138G>A, rs58597806, NG_002601.2:g.87957G>A, NC_000002.12:g.233672700=, NC_000002.12:g.233672700G>A, NM_021027.2:c.766G>A
178
NC_000001.10:g.44137257C>G, NP_055478.2:p.Ala482=, NP_055478.2:p.Ala482Gly, 17401253, NC_000001.10:g.44137257C>A, NC_000001.11:g.43671586C>T, 52815218, NC_000001.11:g.43671586=, NP_055478.2:p.Ala482Glu, NC_000001.10:g.44137257=, NC_000001.11:g.43671586C>G, NC_000001.10:g.44137257C>T, rs586339, NC_000001.11:g.43671586C>A, 586339, 17856066, NP_055478.2:p.Ala482Val
179
NG_011478.1:g.2280T>A, NC_000011.9:g.73696610A>T, NC_000011.10:g.73985565=, NG_011478.1:g.2280T>C, NC_000011.10:g.73985565A>C, NC_000011.9:g.73696610A>G, NC_000011.9:g.73696610=, rs586773, NC_000011.9:g.73696610A>C, rs59870849, NC_000011.10:g.73985565A>G, NC_000011.10:g.73985565A>T, 59870849, NG_011478.1:g.2280T>G, 586773, NG_011478.1:g.2280=
180
58695150, NC_000019.9:g.18262371=, NG_033010.2:g.3384C>T, NC_000019.9:g.18262371C>A, NG_033010.1:g.3384C>T, NC_000019.10:g.18151561C>T, NC_000019.10:g.18151561C>A, rs58695150, NC_000019.9:g.18262371C>T, NG_033010.1:g.3384C>A, NG_033010.1:g.3384=, NC_000019.10:g.18151561=, NG_033010.2:g.3384C>A, NG_033010.2:g.3384=