NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)
|
rs372822977
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)
|
rs1338469029
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.2T>C (p.Met1Thr)
|
rs1302879683
|
0.00001
|
NM_033028.5(BBS4):c.332+8T>C
|
rs1456405256
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
|
|
|
NC_000015.10:g.(?_72686218)_(72686261_?)del
|
|
|
NC_000015.10:g.(?_72709680)_(72712327_?)del
|
|
|
NC_000015.10:g.(?_72715271)_(72716870_?)del
|
|
|
NC_000015.10:g.72708224_72722485del
|
|
|
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
|
|
|
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)del
|
|
|
NC_000015.9:g.(?_72978569)_(73009211_?)del
|
|
|
NC_000015.9:g.(?_73004585)_(73004648_?)del
|
|
|
NC_000015.9:g.(?_73015115)_(73020355_?)del
|
|
|
NC_000015.9:g.(?_73015115)_(73024087_?)del
|
|
|
NM_033028.4(BBS4):c.157-?_220+?del
|
|
|
NM_033028.4:r.[118_261del;118_373del]
|
|
|
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
|
|
|
NM_033028.5(BBS4):c.1064_1106+97del
|
|
|
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
|
rs2065911287
|
|
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
|
rs2065911518
|
|
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1226del (p.Ser409fs)
|
rs886039800
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
NM_033028.5(BBS4):c.1248+1G>T
|
rs1419924139
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
|
rs2065331681
|
|
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
NM_033028.5(BBS4):c.157-1G>T
|
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.157-3C>G
|
rs1567412639
|
|
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)
|
rs886039802
|
|
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
|
|
|
NM_033028.5(BBS4):c.217del (p.Gln73fs)
|
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
|
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
NM_033028.5(BBS4):c.281del (p.Ala94fs)
|
rs2151023363
|
|
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
|
|
|
NM_033028.5(BBS4):c.332+2_332+3insTT
|
rs753360929
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
|
|
|
NM_033028.5(BBS4):c.406-2A>C
|
rs113994191
|
|
NM_033028.5(BBS4):c.406-2A>G
|
rs113994191
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
|
|
|
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
|
|
|
NM_033028.5(BBS4):c.458del (p.Lys153fs)
|
|
|
NM_033028.5(BBS4):c.459+1G>A
|
|
|
NM_033028.5(BBS4):c.469del (p.Gln157fs)
|
|
|
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)
|
rs367882912
|
|
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
NM_033028.5(BBS4):c.623T>A (p.Leu208Ter)
|
rs1358520224
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
|
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
NM_033028.5(BBS4):c.656dup (p.Lys220fs)
|
|
|
NM_033028.5(BBS4):c.657del (p.Lys220fs)
|
rs1567427651
|
|
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
|
|
|
NM_033028.5(BBS4):c.76+1G>T
|
rs1465437164
|
|
NM_033028.5(BBS4):c.76+2T>C
|
|
|
NM_033028.5(BBS4):c.77-216del
|
rs113994189
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
|
|
|
NM_033028.5(BBS4):c.836_842del (p.Cys279fs)
|
rs2151047525
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)
|
rs121434632
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter)
|
rs1567430070
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|