NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)

rs138043021

0.00010

NM_031885.5(BBS2):c.534+1G>T

rs773862084

0.00004

NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)

rs147030232

0.00003

NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)

rs121908179

0.00003

NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)

rs376306240

0.00003

NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)

rs121908175

0.00003

NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)

rs121908178

0.00003

NM_031885.5(BBS2):c.118G>T (p.Val40Phe)

rs886043059

0.00002

NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)

rs762047808

0.00002

NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)

rs200021475

0.00002

NM_031885.5(BBS2):c.1112del (p.Asp371fs)

rs1472488128

0.00001

NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)

rs778090540

0.00001

NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)

rs201063733

0.00001

NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)

rs201196733

0.00001

NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)

rs745951028

0.00001

NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)

rs1597001788

0.00001

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

rs567573386

0.00001

NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)

rs750506474

0.00001

NM_031885.5(BBS2):c.471G>A (p.Thr157=)

rs749983428

0.00001

NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)

rs767373822

0.00001

NM_031885.5(BBS2):c.563del (p.Ile188fs)

rs1367927635

0.00001

NM_031885.5(BBS2):c.717+1G>A

rs1047075022

0.00001

NM_031885.5(BBS2):c.940+1del

rs746171104

0.00001

NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)

rs797045155

0.00001

NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)

rs193922710


NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)



NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)

rs1192804794


NM_031885.5(BBS2):c.10811G>T

rs1555522000


NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)



NM_031885.5(BBS2):c.1099dup (p.Leu367fs)

rs797044632


NM_031885.5(BBS2):c.1163C>G (p.Ser388Ter)



NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)

rs1964269329


NM_031885.5(BBS2):c.1182A>C



NM_031885.5(BBS2):c.1182A>G



NM_031885.5(BBS2):c.1225+2T>C



NM_031885.5(BBS2):c.1225+2T>G



NM_031885.5(BBS2):c.1225+2dup



NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)



NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)



NM_031885.5(BBS2):c.1269del (p.Phe423fs)



NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)



NM_031885.5(BBS2):c.1290dup (p.His431fs)

rs777420525


NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)



NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)



NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)



NM_031885.5(BBS2):c.1355del (p.Pro452fs)



NM_031885.5(BBS2):c.1397+2T>C



NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter)

rs1791390525


NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)



NM_031885.5(BBS2):c.1461del (p.Ser488fs)



NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)



NM_031885.5(BBS2):c.1527+1G>A

rs2144138948


NM_031885.5(BBS2):c.1544del (p.Gly515fs)

rs2144134987


NM_031885.5(BBS2):c.157del (p.Ser53fs)



NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)



NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)



NM_031885.5(BBS2):c.1700del (p.Ile567fs)



NM_031885.5(BBS2):c.1725del (p.Phe575fs)

rs2144132609


NM_031885.5(BBS2):c.1725dup (p.Ala576fs)



NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)



NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)

rs1964155109


NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter)

rs1964154734


NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)



NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)



NM_031885.5(BBS2):c.1797+1G>A

rs1555521489


NM_031885.5(BBS2):c.1843dup (p.Ala615fs)

rs1199538371


NM_031885.5(BBS2):c.184dup (p.Leu62fs)



NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)

rs1555521379


NM_031885.5(BBS2):c.1910+1G>A



NM_031885.5(BBS2):c.19111G>A

rs1555520256


NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)

rs1963758780


NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)



NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)

rs1166717771


NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)

rs1555520220


NM_031885.5(BBS2):c.2059+1del



NM_031885.5(BBS2):c.20601G>T

rs1555520142


NM_031885.5(BBS2):c.2077del (p.Gln693fs)



NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)

rs199940492


NM_031885.5(BBS2):c.224T>G (p.Val75Gly)

rs121908174


NM_031885.5(BBS2):c.255del (p.Glu86fs)

rs2144193104


NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)



NM_031885.5(BBS2):c.284_285del (p.Gly95fs)



NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)

rs1964676925


NM_031885.5(BBS2):c.302T>A (p.Leu101Ter)

rs1964676419


NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)



NM_031885.5(BBS2):c.324_343del (p.Asn108fs)

rs1555523964


NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)

rs181736797


NM_031885.5(BBS2):c.343G>T (p.Glu115Ter)

rs1964674209


NM_031885.5(BBS2):c.3461G>C



NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)



NM_031885.5(BBS2):c.365del (p.Ala122fs)

rs1964569500


NM_031885.5(BBS2):c.406dup (p.Ala136fs)



NM_031885.5(BBS2):c.421_423del (p.Asn141del)



NM_031885.5(BBS2):c.437del (p.Gly146fs)

rs1170844318


NM_031885.5(BBS2):c.440del (p.Phe147fs)

rs1433422530


NM_031885.5(BBS2):c.471+1G>A

rs1555523584


NM_031885.5(BBS2):c.491_501del (p.Asn164fs)



NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)

rs1964558577


NM_031885.5(BBS2):c.509A>G (p.Asp170Gly)



NM_031885.5(BBS2):c.534+2T>C



NM_031885.5(BBS2):c.5351G>A



NM_031885.5(BBS2):c.559dup (p.Asp187fs)



NM_031885.5(BBS2):c.55del (p.Val19fs)

rs1555524593


NM_031885.5(BBS2):c.583G>T (p.Glu195Ter)

rs1964531867


NM_031885.5(BBS2):c.619_620del (p.Thr207fs)



NM_031885.5(BBS2):c.627_628del (p.Cys210fs)

rs773417074


NM_031885.5(BBS2):c.650T>G (p.Phe217Cys)



NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)



NM_031885.5(BBS2):c.661del (p.Leu221fs)

rs770258677


NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)



NM_031885.5(BBS2):c.717+2T>G

rs1555522893


NM_031885.5(BBS2):c.7182A>C

rs1964413705


NM_031885.5(BBS2):c.721A>T (p.Lys241Ter)

rs1964413369


NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)



NM_031885.5(BBS2):c.784dup (p.Thr262fs)



NM_031885.5(BBS2):c.791G>A (p.Trp264Ter)



NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)



NM_031885.5(BBS2):c.856del (p.Ser286fs)



NM_031885.5(BBS2):c.918_919dup (p.Cys307fs)

rs1555522252


NM_031885.5(BBS2):c.940+1G>A



NM_031885.5(BBS2):c.9411G>A



NM_031885.5(BBS2):c.9411G>T

rs777234811


NM_031885.5(BBS2):c.9412A>C

rs878962682


NM_031885.5(BBS2):c.9412A>G



NM_031885.5(BBS2):c.975_985del (p.Arg325fs)


