|
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)
|
rs2229354
|
0.10948
|
|
NM_003073.5(SMARCB1):c.-117C>T
|
rs11090285
|
0.08005
|
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
|
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)
|
rs35105793
|
0.00536
|
|
NM_003073.5(SMARCB1):c.-31C>T
|
rs34276473
|
0.00535
|
|
NM_003073.5(SMARCB1):c.-115C>T
|
rs551328283
|
0.00242
|
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
|
NM_003073.5(SMARCB1):c.-184G>A
|
rs563943196
|
0.00165
|
|
NM_003073.5(SMARCB1):c.*159C>G
|
rs1022324232
|
0.00055
|
|
NM_003073.5(SMARCB1):c.*293C>T
|
rs754865420
|
0.00051
|
|
NM_003073.5(SMARCB1):c.*33T>G
|
rs11541580
|
0.00034
|
|
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=)
|
rs145934279
|
0.00029
|
|
NM_003073.5(SMARCB1):c.*15C>A
|
rs369400289
|
0.00028
|
|
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)
|
rs367768260
|
0.00020
|
|
NM_003073.5(SMARCB1):c.*17C>T
|
rs372348692
|
0.00009
|
|
NM_003073.5(SMARCB1):c.*113C>T
|
rs886057286
|
0.00008
|
|
NM_003073.5(SMARCB1):c.-17C>T
|
rs372777519
|
0.00006
|
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
|
NM_003073.5(SMARCB1):c.-148T>C
|
rs886057283
|
0.00003
|
|
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=)
|
rs187488637
|
0.00003
|
|
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)
|
rs145695677
|
0.00002
|
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
|
NM_003073.5(SMARCB1):c.*279G>A
|
rs886057287
|
0.00001
|
|
NM_003073.5(SMARCB1):c.-83C>T
|
rs1374186002
|
0.00001
|
|
GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)
|
|
|
|
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
|
|
|
|
NM_000268.4(NF2):c.1192_1193del (p.Leu398fs)
|
|
|
|
NM_000268.4(NF2):c.125_126insG (p.Gly43fs)
|
rs587776564
|
|
|
NM_000268.4(NF2):c.1340+1G>C
|
|
|
|
NM_000268.4(NF2):c.205_211del (p.Lys69fs)
|
rs587776565
|
|
|
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del)
|
rs121434260
|
|
|
NM_000268.4(NF2):c.363+1G>A
|
rs1601583839
|
|
|
NM_000268.4(NF2):c.448-1G>A
|
rs2146966216
|
|
|
NM_000268.4(NF2):c.4G>T (p.Ala2Ser)
|
rs1601515682
|
|
|
NM_003073.5(SMARCB1):c.*100C>G
|
rs1363655817
|
|
|
NM_003073.5(SMARCB1):c.*197A>C
|
rs1306414841
|
|
|
NM_003073.5(SMARCB1):c.*307A>G
|
rs2030874248
|
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
|
NM_003073.5(SMARCB1):c.-107A>G
|
rs886057284
|
|
|
NM_003073.5(SMARCB1):c.-157G>A
|
rs886057281
|
|
|
NM_003073.5(SMARCB1):c.10del (p.Met4fs)
|
|
|
|
NM_003073.5(SMARCB1):c.1118+2T>C
|
|
|
|
NM_003073.5(SMARCB1):c.1118+8T>C
|
rs2030796889
|
|
|
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)
|
rs387906811
|
|
|
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)
|
rs779769475
|
|
|
NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs)
|
rs587776679
|
|
|
NM_003073.5(SMARCB1):c.233-2_237del
|
|
|
|
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs)
|
rs2145964108
|
|
|
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)
|
rs74315513
|
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
|
NM_003073.5(SMARCB1):c.629-361_795+2103dup
|
|
|
|
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)
|
rs1930218305
|
|
|
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs)
|
rs2146010204
|
|
|
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)
|
rs267607072
|
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|