NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
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rs373378747
|
0.00011
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NM_176824.3(BBS7):c.968A>G (p.His323Arg)
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rs119466001
|
0.00010
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NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)
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rs119466002
|
0.00006
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NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
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rs754579374
|
0.00004
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NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)
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rs370716101
|
0.00003
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NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
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rs773052355
|
0.00003
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NM_176824.3(BBS7):c.442A>C (p.Asn148His)
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rs982037757
|
0.00002
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NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
0.00001
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NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
0.00001
|
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
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rs727503821
|
0.00001
|
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
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rs151275562
|
0.00001
|
NM_176824.3(BBS7):c.849+1G>C
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rs763719688
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)
|
rs1726067918
|
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NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)
|
rs1726067442
|
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NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
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NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
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|
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NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
|
rs577434138
|
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NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
|
|
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NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
|
|
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NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
|
|
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NM_176824.3(BBS7):c.1306-1_1308del
|
|
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NM_176824.3(BBS7):c.1371+1G>A
|
rs1578537379
|
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NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
|
|
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NM_176824.3(BBS7):c.1489del (p.Thr497fs)
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|
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NM_176824.3(BBS7):c.149dup (p.Lys51fs)
|
|
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NM_176824.3(BBS7):c.1512-1G>A
|
rs2149054421
|
|
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
|
|
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NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
|
|
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NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
|
rs587777836
|
|
NM_176824.3(BBS7):c.1677-2A>G
|
|
|
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
|
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
|
|
|
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
|
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
|
|
|
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
|
rs672601379
|
|
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
|
|
|
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
|
|
|
NM_176824.3(BBS7):c.328del (p.Ser110fs)
|
|
|
NM_176824.3(BBS7):c.341+2T>C
|
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
|
|
|
NM_176824.3(BBS7):c.517dup (p.Arg173fs)
|
|
|
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
|
|
|
NM_176824.3(BBS7):c.649dup (p.Ala217fs)
|
rs886044668
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_176824.3(BBS7):c.718+1G>C
|
|
|
NM_176824.3(BBS7):c.719-2A>G
|
|
|
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
|
|
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NM_176824.3(BBS7):c.72del (p.Pro25fs)
|
|
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NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
|
|
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NM_176824.3(BBS7):c.849+1G>A
|
|
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NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
|
|
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NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
|
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