NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000071.3(CBS):c.339C>T (p.Asn113=)
|
rs140879135
|
0.00019
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
NM_000071.3(CBS):c.1146-4G>A
|
rs778414187
|
0.00003
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000071.3(CBS):c.1251G>A (p.Leu417=)
|
rs764079534
|
0.00002
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_000071.3(CBS):c.637G>A (p.Glu213Lys)
|
rs758703098
|
0.00002
|
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
|
rs1282760211
|
0.00001
|
NM_000071.3(CBS):c.1035G>T (p.Leu345=)
|
rs746340769
|
0.00001
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
NM_000071.3(CBS):c.1600G>A (p.Val534Ile)
|
rs779569366
|
0.00001
|
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)
|
rs1429138569
|
0.00001
|
NM_000071.3(CBS):c.736+5G>A
|
rs750518463
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:44473972-44480656)x1
|
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000071.3(CBS):c.266T>A (p.Met89Lys)
|
rs772450760
|
|
NM_000071.3(CBS):c.316+524G>A
|
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
|
|
|
NM_000071.3(CBS):c.954G>A (p.Thr318=)
|
rs776122644
|
|