NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter)
|
rs192919234
|
0.00004
|
NM_020461.4(TUBGCP6):c.2066-6A>G
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rs368765755
|
0.00003
|
NM_020461.4(TUBGCP6):c.3090_3091del (p.Gly1032fs)
|
rs1491234697
|
0.00003
|
NM_020461.4(TUBGCP6):c.5112del (p.Asp1705fs)
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rs764772232
|
0.00002
|
NM_020461.4(TUBGCP6):c.1519C>T (p.Gln507Ter)
|
rs1260456579
|
0.00001
|
NM_020461.4(TUBGCP6):c.181_182del (p.Met61fs)
|
rs748511475
|
0.00001
|
NM_020461.4(TUBGCP6):c.1833+1G>A
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rs886041788
|
0.00001
|
NM_020461.4(TUBGCP6):c.2155C>T (p.Arg719Ter)
|
rs776065095
|
0.00001
|
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter)
|
rs724159975
|
0.00001
|
NM_020461.4(TUBGCP6):c.2221_2222del (p.Arg741fs)
|
rs951221380
|
0.00001
|
NM_020461.4(TUBGCP6):c.4090_4091del (p.Ser1364fs)
|
rs772772535
|
0.00001
|
NM_020461.4(TUBGCP6):c.766G>T (p.Glu256Ter)
|
rs936296358
|
0.00001
|
NC_000022.10:g.(?_50678613)_(50678816_?)del
|
|
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NC_000022.10:g.(?_50678613)_(50682888_?)del
|
|
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NM_020461.4(TUBGCP6):c.1105dup (p.Ser369fs)
|
|
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NM_020461.4(TUBGCP6):c.112A>T (p.Lys38Ter)
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rs2147222889
|
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NM_020461.4(TUBGCP6):c.1314dup (p.Tyr439fs)
|
rs1427049971
|
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NM_020461.4(TUBGCP6):c.1320dup (p.Gln441fs)
|
rs2147191670
|
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NM_020461.4(TUBGCP6):c.1321C>T (p.Gln441Ter)
|
|
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NM_020461.4(TUBGCP6):c.1389dup (p.Lys464fs)
|
|
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NM_020461.4(TUBGCP6):c.1587del (p.Cys529fs)
|
rs1555908577
|
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NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
|
|
|
NM_020461.4(TUBGCP6):c.166C>T (p.Gln56Ter)
|
|
|
NM_020461.4(TUBGCP6):c.1690C>T (p.Arg564Ter)
|
rs868312344
|
|
NM_020461.4(TUBGCP6):c.1695dup (p.Lys566Ter)
|
|
|
NM_020461.4(TUBGCP6):c.1869del (p.Ile624fs)
|
rs2147187702
|
|
NM_020461.4(TUBGCP6):c.1894del (p.Glu632fs)
|
rs2147187633
|
|
NM_020461.4(TUBGCP6):c.1900A>T (p.Lys634Ter)
|
rs770218767
|
|
NM_020461.4(TUBGCP6):c.1948del (p.Val650fs)
|
|
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NM_020461.4(TUBGCP6):c.2064del (p.Ser688fs)
|
rs2147185386
|
|
NM_020461.4(TUBGCP6):c.2078C>G (p.Ser693Ter)
|
rs2147185153
|
|
NM_020461.4(TUBGCP6):c.2161C>T (p.Gln721Ter)
|
|
|
NM_020461.4(TUBGCP6):c.2234dup (p.Lys746fs)
|
rs2147184688
|
|
NM_020461.4(TUBGCP6):c.2382dup (p.Leu795fs)
|
rs2147182067
|
|
NM_020461.4(TUBGCP6):c.2484+1del
|
rs2147181283
|
|
NM_020461.4(TUBGCP6):c.2503G>T (p.Glu835Ter)
|
rs2147180901
|
|
NM_020461.4(TUBGCP6):c.2609del (p.Lys870fs)
|
rs1276849158
|
|
NM_020461.4(TUBGCP6):c.268del (p.Glu90fs)
|
|
|
NM_020461.4(TUBGCP6):c.2793del (p.Ser932fs)
|
rs1299462712
|
|
NM_020461.4(TUBGCP6):c.2793dup (p.Ser932fs)
|
rs1299462712
|
|
NM_020461.4(TUBGCP6):c.2901_2902insCCTCACCTGCACCTCACCTGCACCA (p.Gly968fs)
|
|
|
NM_020461.4(TUBGCP6):c.2915dup (p.Ala973fs)
|
|
|
NM_020461.4(TUBGCP6):c.2939C>G (p.Ser980Ter)
|
rs748016341
|
|
NM_020461.4(TUBGCP6):c.304del (p.Cys102fs)
|
|
|
NM_020461.4(TUBGCP6):c.3082C>T (p.Gln1028Ter)
|
rs755344399
|
|
NM_020461.4(TUBGCP6):c.3166_3169delinsCCACGGGCAGGGTGGGTGGAACACCCACC (p.Val1056fs)
|
|
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NM_020461.4(TUBGCP6):c.324dup (p.Ser109fs)
|
|
|
NM_020461.4(TUBGCP6):c.3392G>A (p.Trp1131Ter)
|
rs766653635
|
|
NM_020461.4(TUBGCP6):c.3473G>A (p.Trp1158Ter)
|
rs2064509262
|
|
NM_020461.4(TUBGCP6):c.3474G>A (p.Trp1158Ter)
|
|
|
NM_020461.4(TUBGCP6):c.3525_3526del (p.Ser1176fs)
|
rs2064507825
|
|
NM_020461.4(TUBGCP6):c.3760dup (p.Glu1254fs)
|
|
|
NM_020461.4(TUBGCP6):c.3784_3802del (p.Thr1262fs)
|
rs2147177418
|
|
NM_020461.4(TUBGCP6):c.3802_3803dup (p.His1269fs)
|
rs2064500789
|
|
NM_020461.4(TUBGCP6):c.3841dup (p.Ala1281fs)
|
rs753094803
|
|
NM_020461.4(TUBGCP6):c.3847_3848del (p.Ser1283fs)
|
rs765535822
|
|
NM_020461.4(TUBGCP6):c.3887del (p.Ser1296fs)
|
rs2147177201
|
|
NM_020461.4(TUBGCP6):c.3893dup (p.Gly1299fs)
|
rs760024638
|
|
NM_020461.4(TUBGCP6):c.4067G>A (p.Trp1356Ter)
|
rs967859778
|
|
NM_020461.4(TUBGCP6):c.4129_4130dup (p.Glu1378fs)
|
rs946708699
|
|
NM_020461.4(TUBGCP6):c.4160_4164del (p.Asn1387fs)
|
|
|
NM_020461.4(TUBGCP6):c.4165_4166del (p.Gln1389fs)
|
rs752869602
|
|
NM_020461.4(TUBGCP6):c.4175_4176del (p.Thr1392fs)
|
rs754282574
|
|
NM_020461.4(TUBGCP6):c.4234C>T (p.Gln1412Ter)
|
rs2147175251
|
|
NM_020461.4(TUBGCP6):c.4305C>G (p.Tyr1435Ter)
|
|
|
NM_020461.4(TUBGCP6):c.4306G>T (p.Glu1436Ter)
|
|
|
NM_020461.4(TUBGCP6):c.4374del (p.Val1459fs)
|
|
|
NM_020461.4(TUBGCP6):c.4562_4563dup (p.His1522fs)
|
|
|
NM_020461.4(TUBGCP6):c.4639C>T (p.Gln1547Ter)
|
rs1244829942
|
|
NM_020461.4(TUBGCP6):c.4648G>T (p.Gly1550Ter)
|
rs753188505
|
|
NM_020461.4(TUBGCP6):c.4852G>T (p.Glu1618Ter)
|
|
|
NM_020461.4(TUBGCP6):c.4990del (p.Arg1664fs)
|
|
|
NM_020461.4(TUBGCP6):c.5054_5055dup (p.Asn1686fs)
|
|
|
NM_020461.4(TUBGCP6):c.5128C>T (p.Gln1710Ter)
|
|
|
NM_020461.4(TUBGCP6):c.538C>T (p.Gln180Ter)
|
rs143957857
|
|
NM_020461.4(TUBGCP6):c.911dup (p.Gly305fs)
|
|
|
NM_020461.4(TUBGCP6):c.912del (p.Gly305fs)
|
|
|
NM_020461.4(TUBGCP6):c.996dup (p.Leu333fs)
|
rs2147200853
|
|