NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)
|
rs773734233
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
|
rs373782713
|
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.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000071.3(CBS):c.2T>C (p.Met1Thr)
|
rs769766030
|
0.00003
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)
|
rs143124288
|
0.00003
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
NM_000071.3(CBS):c.28del (p.Val10fs)
|
rs779250698
|
0.00001
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000071.3(CBS):c.473C>T (p.Ala158Val)
|
rs1376851289
|
0.00001
|
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)
|
rs1347651454
|
0.00001
|
NM_000071.3(CBS):c.736+1G>A
|
rs1166621523
|
0.00001
|
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
|
rs121964969
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
NC_000021.8:g.(?_44478245)_(44485815_?)del
|
|
|
NC_000021.8:g.(?_44479024)_(44485181_?)del
|
|
|
NC_000021.8:g.(?_44479686)_(44483266_?)del
|
|
|
NC_000021.8:g.(?_44486453)_(44486477_?)del
|
|
|
NC_000021.8:g.(?_44488599)_(44492323_?)del
|
|
|
NC_000021.8:g.(?_44492085)_(44496976_?)del
|
|
|
NC_000021.9:g.(?_43058125)_(43065715_?)del
|
|
|
NC_000021.9:g.(?_43060421)_(43062415_?)dup
|
|
|
NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys)
|
rs1064793703
|
|
NM_000071.3(CBS):c.1087del (p.Glu363fs)
|
rs1064794540
|
|
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)
|
rs1170128038
|
|
NM_000071.3(CBS):c.1169G>A (p.Trp390Ter)
|
rs2146344203
|
|
NM_000071.3(CBS):c.118del (p.Glu40fs)
|
|
|
NM_000071.3(CBS):c.1218del (p.Lys406fs)
|
rs794727083
|
|
NM_000071.3(CBS):c.1221del (p.Trp408fs)
|
rs1361324844
|
|
NM_000071.3(CBS):c.1223+1G>T
|
rs1601339216
|
|
NM_000071.3(CBS):c.1226G>A (p.Trp409Ter)
|
rs376916741
|
|
NM_000071.3(CBS):c.1227G>A (p.Trp409Ter)
|
rs1332950288
|
|
NM_000071.3(CBS):c.1358+1G>A
|
rs786204679
|
|
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)
|
rs121964971
|
|
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)
|
rs1555871188
|
|
NM_000071.3(CBS):c.153_165del (p.Arg51fs)
|
rs1555876784
|
|
NM_000071.3(CBS):c.1543C>T (p.Gln515Ter)
|
|
|
NM_000071.3(CBS):c.1549del (p.Gln517fs)
|
|
|
NM_000071.3(CBS):c.1561del (p.Thr521fs)
|
|
|
NM_000071.3(CBS):c.1566del (p.Lys523fs)
|
rs786204466
|
|
NM_000071.3(CBS):c.156C>A (p.Cys52Ter)
|
rs1983442077
|
|
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)
|
rs1555869958
|
|
NM_000071.3(CBS):c.1582C>T (p.Gln528Ter)
|
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.184dup (p.Glu62fs)
|
rs2146427417
|
|
NM_000071.3(CBS):c.194A>G (p.His65Arg)
|
rs1191141364
|
|
NM_000071.3(CBS):c.19del (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
NM_000071.3(CBS):c.209+1G>C
|
rs751464024
|
|
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)
|
rs863223435
|
|
NM_000071.3(CBS):c.256del (p.Asp86fs)
|
rs1208139876
|
|
NM_000071.3(CBS):c.258dup (p.Thr87fs)
|
|
|
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)
|
rs2146413970
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
|
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)
|
rs786204757
|
|
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)
|
rs760214620
|
|
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)
|
rs770095972
|
|
NM_000071.3(CBS):c.371_374dup (p.Met126fs)
|
rs755625628
|
|
NM_000071.3(CBS):c.379del (p.Ile127fs)
|
|
|
NM_000071.3(CBS):c.382G>T (p.Glu128Ter)
|
|
|
NM_000071.3(CBS):c.402del (p.Thr135fs)
|
rs1057517083
|
|
NM_000071.3(CBS):c.407del (p.Leu136fs)
|
|
|
NM_000071.3(CBS):c.427dup (p.Ile143fs)
|
rs2146393861
|
|
NM_000071.3(CBS):c.429C>G (p.Ile143Met)
|
rs370167302
|
|
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)
|
rs121964966
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000071.3(CBS):c.444dup (p.Asn149fs)
|
rs2146393621
|
|
NM_000071.3(CBS):c.452-153_624dup
|
rs1568932440
|
|
NM_000071.3(CBS):c.456C>G (p.Ile152Met)
|
|
|
NM_000071.3(CBS):c.456_477del (p.Ile152fs)
|
rs2146387963
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs)
|
rs1982618780
|
|
NM_000071.3(CBS):c.481del (p.Arg161fs)
|
rs2146387904
|
|
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)
|
rs1234354755
|
|
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)
|
rs762065361
|
|
NM_000071.3(CBS):c.526G>T (p.Glu176Ter)
|
rs762065361
|
|
NM_000071.3(CBS):c.532-1G>A
|
rs2146385603
|
|
NM_000071.3(CBS):c.532-2A>G
|
rs1568932835
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
|
|
|
NM_000071.3(CBS):c.624G>A (p.Trp208Ter)
|
rs774174074
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)
|
rs1464223176
|
|
NM_000071.3(CBS):c.702del (p.Asp234fs)
|
rs2146381604
|
|
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
|
|
|
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
|
|
|
NM_000071.3(CBS):c.736+2T>G
|
rs863223430
|
|
NM_000071.3(CBS):c.738del
|
rs766453711
|
|
NM_000071.3(CBS):c.740_769del (p.Lys247_Gly256del)
|
|
|
NM_000071.3(CBS):c.754del (p.Val252fs)
|
|
|
NM_000071.3(CBS):c.766G>A (p.Gly256Ser)
|
rs1000697114
|
|
NM_000071.3(CBS):c.785C>G (p.Thr262Arg)
|
|
|
NM_000071.3(CBS):c.78dup (p.Ser27fs)
|
|
|
NM_000071.3(CBS):c.815_816del (p.Cys272fs)
|
|
|
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)
|
rs528689432
|
|
NM_000071.3(CBS):c.825C>A (p.Cys275Ter)
|
|
|
NM_000071.3(CBS):c.829-249_878del
|
rs2146366969
|
|
NM_000071.3(CBS):c.837_841dup (p.Asp281fs)
|
|
|
NM_000071.3(CBS):c.869C>T (p.Pro290Leu)
|
rs760912339
|
|
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
|
|
|
NM_000071.3(CBS):c.892dup (p.Gln298fs)
|
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
|
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000071.3(CBS):c.98del (p.Pro33fs)
|
rs2146428203
|
|
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)
|
rs777919630
|
|