NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
NM_000071.3(CBS):c.5C>T (p.Pro2Leu)
|
rs546530618
|
0.00019
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000071.3(CBS):c.221C>T (p.Pro74Leu)
|
rs762862715
|
0.00011
|
NM_000071.3(CBS):c.404C>T (p.Thr135Met)
|
rs144832032
|
0.00009
|
NM_000071.3(CBS):c.134G>A (p.Arg45Gln)
|
rs759502207
|
0.00008
|
NM_000071.3(CBS):c.1039+3G>A
|
rs747384273
|
0.00006
|
NM_000071.3(CBS):c.1067T>C (p.Val356Ala)
|
rs370163789
|
0.00006
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
NM_000071.3(CBS):c.610G>A (p.Val204Met)
|
rs372679328
|
0.00006
|
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)
|
rs201916339
|
0.00005
|
NM_000071.3(CBS):c.175C>T (p.Pro59Ser)
|
rs376496085
|
0.00004
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
NM_000071.3(CBS):c.1009A>G (p.Met337Val)
|
rs372822486
|
0.00003
|
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)
|
rs371214833
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
NM_000071.3(CBS):c.152G>A (p.Arg51Lys)
|
rs370983323
|
0.00003
|
NM_000071.3(CBS):c.209C>T (p.Pro70Leu)
|
rs2229413
|
0.00003
|
NM_000071.3(CBS):c.412C>T (p.Pro138Ser)
|
rs765702034
|
0.00003
|
NM_000071.3(CBS):c.538G>A (p.Val180Met)
|
rs759402521
|
0.00003
|
NM_000071.3(CBS):c.588G>C (p.Arg196Ser)
|
rs555751528
|
0.00003
|
NM_000071.3(CBS):c.616G>A (p.Val206Met)
|
rs369220569
|
0.00003
|
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)
|
rs760212248
|
0.00003
|
NM_000071.3(CBS):c.1342G>A (p.Val448Met)
|
rs865989946
|
0.00002
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)
|
rs745764562
|
0.00001
|
NM_000071.3(CBS):c.1262C>A (p.Ala421Asp)
|
rs886039021
|
0.00001
|
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
|
rs1324151005
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000071.3(CBS):c.210-3C>T
|
rs562656023
|
0.00001
|
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)
|
rs1429138569
|
0.00001
|
NM_000071.3(CBS):c.548C>T (p.Ala183Val)
|
rs374464810
|
0.00001
|
NM_000071.3(CBS):c.736+4C>T
|
rs756191746
|
0.00001
|
NM_000071.3(CBS):c.736+5G>A
|
rs750518463
|
0.00001
|
NM_000071.3(CBS):c.79_81dup (p.Ser27dup)
|
rs754535608
|
0.00001
|
NM_000071.3(CBS):c.-4C>A
|
|
|
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
|
|
|
NM_000071.3(CBS):c.106A>G (p.Lys36Glu)
|
rs904453895
|
|
NM_000071.3(CBS):c.1119T>G (p.Ile373Met)
|
|
|
NM_000071.3(CBS):c.1166G>C (p.Arg389Thr)
|
rs1383178636
|
|
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)
|
rs745438246
|
|
NM_000071.3(CBS):c.1216A>C (p.Lys406Gln)
|
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.132C>G (p.Ile44Met)
|
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
|
|
|
NM_000071.3(CBS):c.1400C>T (p.Ser467Phe)
|
|
|
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000071.3(CBS):c.1431C>A (p.Asp477Glu)
|
rs1555871920
|
|
NM_000071.3(CBS):c.1436T>C (p.Val479Ala)
|
rs886038933
|
|
NM_000071.3(CBS):c.1438G>A (p.Gly480Ser)
|
|
|
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
|
|
|
NM_000071.3(CBS):c.149G>A (p.Ser50Asn)
|
|
|
NM_000071.3(CBS):c.1516G>A (p.Asp506Asn)
|
|
|
NM_000071.3(CBS):c.153G>T (p.Arg51Ser)
|
|
|
NM_000071.3(CBS):c.1553-5C>G
|
|
|
NM_000071.3(CBS):c.1606G>A (p.Ala536Thr)
|
|
|
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
|
|
|
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
|
|
|
NM_000071.3(CBS):c.202A>G (p.Thr68Ala)
|
|
|
NM_000071.3(CBS):c.209+2dup
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
|
|
|
NM_000071.3(CBS):c.23C>T (p.Ala8Val)
|
rs919403971
|
|
NM_000071.3(CBS):c.251T>C (p.Ile84Thr)
|
|
|
NM_000071.3(CBS):c.260C>T (p.Thr87Ile)
|
|
|
NM_000071.3(CBS):c.265A>T (p.Met89Leu)
|
|
|
NM_000071.3(CBS):c.282G>C (p.Lys94Asn)
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.352G>T (p.Val118Leu)
|
|
|
NM_000071.3(CBS):c.389C>T (p.Ala130Val)
|
rs1301672360
|
|
NM_000071.3(CBS):c.394C>A (p.Arg132Ser)
|
rs140002610
|
|
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
|
|
|
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)
|
rs121964966
|
|
NM_000071.3(CBS):c.496A>C (p.Ile166Leu)
|
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.532G>A (p.Val178Met)
|
rs370843514
|
|
NM_000071.3(CBS):c.548C>G (p.Ala183Gly)
|
|
|
NM_000071.3(CBS):c.75G>T (p.Lys25Asn)
|
rs1484147890
|
|
NM_000071.3(CBS):c.77G>C (p.Gly26Ala)
|
|
|
NM_000071.3(CBS):c.846C>T (p.Pro282=)
|
|
|
NM_000071.3(CBS):c.883C>G (p.Gln295Glu)
|
|
|
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
|
rs562530775
|
|
NM_000071.3(CBS):c.927C>A (p.Asp309Glu)
|
|
|
NM_000071.3(CBS):c.92G>A (p.Gly31Glu)
|
|
|
NM_000071.3(CBS):c.935C>A (p.Pro312His)
|
|
|
NM_000071.3(CBS):c.955-5C>A
|
rs746366131
|
|