NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg)
|
rs140950220
|
0.00033
|
NM_032888.4(COL27A1):c.2797C>T (p.Arg933Ter)
|
rs940642841
|
0.00001
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NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter)
|
rs1328051341
|
0.00001
|
NM_032888.4(COL27A1):c.3616del (p.Arg1206fs)
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rs1835450838
|
0.00001
|
NC_000009.11:g.(?_116917341)_(116918270_?)del
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NC_000009.12:g.114162718del
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NC_000009.12:g.114205103del
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NC_000009.12:g.114231822_114231832del
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NC_000009.12:g.114258542_114258551del
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NC_000009.12:g.114290059del
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|
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NM_032888.4(COL27A1):c.1060C>T (p.Gln354Ter)
|
rs1849075301
|
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NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter)
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rs1849088219
|
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NM_032888.4(COL27A1):c.1251_1252del (p.Arg417fs)
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|
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NM_032888.4(COL27A1):c.1289del (p.Pro430fs)
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|
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NM_032888.4(COL27A1):c.1373del (p.Ala458fs)
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rs2135083222
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NM_032888.4(COL27A1):c.168G>A (p.Trp56Ter)
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|
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NM_032888.4(COL27A1):c.1734_1743dup (p.Pro582fs)
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rs2135087452
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NM_032888.4(COL27A1):c.1865del (p.Leu622fs)
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|
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NM_032888.4(COL27A1):c.1891_1908+1dup
|
rs1849155569
|
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NM_032888.4(COL27A1):c.2065del (p.Ala689fs)
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rs2135241404
|
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NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter)
|
rs1401322428
|
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NM_032888.4(COL27A1):c.2139T>A (p.Tyr713Ter)
|
rs2135298547
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NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter)
|
rs1465820080
|
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NM_032888.4(COL27A1):c.2446_2447delinsA (p.Pro816fs)
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|
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NM_032888.4(COL27A1):c.2542del (p.Glu848fs)
|
rs2135434002
|
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NM_032888.4(COL27A1):c.2576_2577insT (p.Val860fs)
|
rs2135453120
|
|
NM_032888.4(COL27A1):c.2809G>T (p.Gly937Ter)
|
rs1832681636
|
|
NM_032888.4(COL27A1):c.3083dup (p.Met1029fs)
|
rs2135531602
|
|
NM_032888.4(COL27A1):c.3157C>T (p.Arg1053Ter)
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|
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NM_032888.4(COL27A1):c.3195+1G>A
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NM_032888.4(COL27A1):c.3248del (p.Lys1083fs)
|
rs2135591632
|
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NM_032888.4(COL27A1):c.3265C>T (p.Gln1089Ter)
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NM_032888.4(COL27A1):c.3310C>T (p.Arg1104Ter)
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|
|
NM_032888.4(COL27A1):c.3365del (p.Pro1122fs)
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|
|
NM_032888.4(COL27A1):c.3365dup (p.Gly1123fs)
|
rs1431754712
|
|
NM_032888.4(COL27A1):c.3377del (p.Gly1126fs)
|
|
|
NM_032888.4(COL27A1):c.3518_3519insAGGG (p.Thr1175fs)
|
rs2135622964
|
|
NM_032888.4(COL27A1):c.3680_3692del (p.Asp1227fs)
|
rs2135666480
|
|
NM_032888.4(COL27A1):c.3690dup (p.Gly1231fs)
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|
|
NM_032888.4(COL27A1):c.3698dup (p.Gly1234fs)
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|
|
NM_032888.4(COL27A1):c.3786_3787delinsCT (p.Gln1263Ter)
|
|
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NM_032888.4(COL27A1):c.3863del (p.Gly1288fs)
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|
|
NM_032888.4(COL27A1):c.3917del (p.Gly1306fs)
|
rs1836077490
|
|
NM_032888.4(COL27A1):c.4255del (p.Val1419fs)
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|
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NM_032888.4(COL27A1):c.4300dup (p.Arg1434fs)
|
|
|
NM_032888.4(COL27A1):c.4357dup (p.Ala1453fs)
|
|
|
NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter)
|
rs1289391715
|
|
NM_032888.4(COL27A1):c.4560_4561del (p.Glu1521fs)
|
|
|
NM_032888.4(COL27A1):c.4561G>T (p.Glu1521Ter)
|
|
|
NM_032888.4(COL27A1):c.4672C>T (p.Gln1558Ter)
|
|
|
NM_032888.4(COL27A1):c.4729G>T (p.Gly1577Ter)
|
|
|
NM_032888.4(COL27A1):c.4760del (p.Pro1587fs)
|
rs2131663679
|
|
NM_032888.4(COL27A1):c.4873C>T (p.Gln1625Ter)
|
|
|
NM_032888.4(COL27A1):c.4891_4909del (p.Ala1631fs)
|
|
|
NM_032888.4(COL27A1):c.490C>T (p.Arg164Ter)
|
rs2135073208
|
|
NM_032888.4(COL27A1):c.4972C>T (p.Gln1658Ter)
|
|
|
NM_032888.4(COL27A1):c.5129del (p.Asn1710fs)
|
|
|
NM_032888.4(COL27A1):c.5281C>T (p.Gln1761Ter)
|
|
|
NM_032888.4(COL27A1):c.5373G>A (p.Trp1791Ter)
|
rs2131700308
|
|
NM_032888.4(COL27A1):c.554dup (p.His186fs)
|
rs1849030350
|
|
NM_032888.4(COL27A1):c.611dup (p.His205fs)
|
|
|
NM_032888.4(COL27A1):c.62+1del
|
rs756877794
|
|
NM_032888.4(COL27A1):c.697_707del (p.Arg233fs)
|
rs2135075507
|
|
NM_032888.4(COL27A1):c.734del (p.Pro245fs)
|
|
|
NM_032888.4(COL27A1):c.903_916del (p.Gln301fs)
|
|
|
NM_032888.4(COL27A1):c.924_927dup (p.Gln310fs)
|
rs2135078208
|
|
NM_032888.4(COL27A1):c.99del (p.Cys34fs)
|
|
|