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NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
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NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
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NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
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NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)
|
rs2065896039
|
0.00001
|
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
|
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
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GRCh38/hg38 15q24.1(chr15:72714229-72721948)
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GRCh38/hg38 15q24.1(chr15:72714243-72720447)
|
|
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NC_000015.9:g.(?_73004565)_(73009211_?)del
|
|
|
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NM_033028.5(BBS4):c.101del (p.Lys34fs)
|
|
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NM_033028.5(BBS4):c.1036+1G>A
|
rs2151048301
|
|
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NM_033028.5(BBS4):c.1037-1G>A
|
|
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NM_033028.5(BBS4):c.1037-2A>G
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NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
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NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
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|
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|
NM_033028.5(BBS4):c.1106+1G>A
|
|
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NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464
|
|
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NM_033028.5(BBS4):c.1106+2T>C
|
|
|
|
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
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NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
|
|
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NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
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NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
|
|
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NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
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|
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NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)
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|
NM_033028.5(BBS4):c.1234_1248+5del
|
|
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|
NM_033028.5(BBS4):c.1248+1G>A
|
|
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NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
|
NM_033028.5(BBS4):c.1248+2dup
|
|
|
|
NM_033028.5(BBS4):c.1249-3_1259del
|
|
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|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
|
NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)
|
|
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NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
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|
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NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
|
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
|
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
|
|
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|
NM_033028.5(BBS4):c.1450+2T>C
|
|
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NM_033028.5(BBS4):c.150del (p.Cys51fs)
|
|
|
|
NM_033028.5(BBS4):c.210_213del (p.Ile70fs)
|
rs775928735
|
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
|
NM_033028.5(BBS4):c.24+1G>A
|
rs759520211
|
|
|
NM_033028.5(BBS4):c.24+1G>T
|
rs759520211
|
|
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NM_033028.5(BBS4):c.24+2T>G
|
|
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NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
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NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)
|
rs2065449579
|
|
|
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
|
|
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|
NM_033028.5(BBS4):c.332+1G>T
|
|
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NM_033028.5(BBS4):c.333-1G>C
|
rs2065474809
|
|
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NM_033028.5(BBS4):c.333-2A>C
|
|
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
|
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
|
|
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
|
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)
|
rs1595935759
|
|
|
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
|
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
|
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
|
|
|
|
NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
|
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
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NM_033028.5(BBS4):c.642+1G>A
|
|
|
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NM_033028.5(BBS4):c.642+1G>T
|
|
|
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NM_033028.5(BBS4):c.642+2T>G
|
|
|
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NM_033028.5(BBS4):c.711+1G>A
|
rs2151044091
|
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
|
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)
|
rs200113494
|
|
|
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
|
|
|
|
NM_033028.5(BBS4):c.830G>T (p.Gly277Val)
|
rs749017489
|
|
|
NM_033028.5(BBS4):c.864+1G>A
|
|
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
|
NM_033028.5(BBS4):c.865-3_865-2del
|
|
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
|
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
|
|
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|