NM_000337.6(SGCD):c.3+3G>C
|
rs573109924
|
0.00023
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000337.6(SGCD):c.755C>T (p.Thr252Met)
|
rs199520526
|
0.00013
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
NM_000337.6(SGCD):c.160A>G (p.Ile54Val)
|
rs200671745
|
0.00009
|
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)
|
rs538002169
|
0.00008
|
NM_000337.6(SGCD):c.659C>T (p.Thr220Ile)
|
rs1471128348
|
0.00006
|
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)
|
rs1437006739
|
0.00004
|
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)
|
rs764237334
|
0.00004
|
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)
|
rs752000538
|
0.00003
|
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)
|
rs727503423
|
0.00003
|
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)
|
rs750459196
|
0.00003
|
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys)
|
rs768979513
|
0.00003
|
NM_000337.6(SGCD):c.716C>T (p.Ala239Val)
|
rs377153196
|
0.00003
|
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu)
|
rs375159661
|
0.00003
|
NM_000337.6(SGCD):c.767C>T (p.Thr256Met)
|
rs578056399
|
0.00003
|
NM_000337.6(SGCD):c.1A>G (p.Met1Val)
|
rs756367674
|
0.00002
|
NM_000337.6(SGCD):c.294+3A>G
|
rs766462865
|
0.00002
|
NM_000337.6(SGCD):c.298A>C (p.Asn100His)
|
rs1436273126
|
0.00002
|
NM_000337.6(SGCD):c.3+2T>A
|
rs753979573
|
0.00002
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
NM_000337.6(SGCD):c.401C>T (p.Ala134Val)
|
rs776098396
|
0.00002
|
NM_000337.6(SGCD):c.575+6C>T
|
rs886044432
|
0.00002
|
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe)
|
rs781628137
|
0.00002
|
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)
|
rs202223676
|
0.00002
|
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln)
|
rs1488623227
|
0.00002
|
NM_000337.6(SGCD):c.190A>G (p.Ile64Val)
|
rs753808210
|
0.00001
|
NM_000337.6(SGCD):c.194A>G (p.Asp65Gly)
|
rs769883857
|
0.00001
|
NM_000337.6(SGCD):c.19T>C (p.Tyr7His)
|
rs1561633494
|
0.00001
|
NM_000337.6(SGCD):c.296G>A (p.Gly99Asp)
|
rs955284985
|
0.00001
|
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)
|
rs566181541
|
0.00001
|
NM_000337.6(SGCD):c.340A>G (p.Ile114Val)
|
rs760206240
|
0.00001
|
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys)
|
rs748107425
|
0.00001
|
NM_000337.6(SGCD):c.354G>T (p.Gln118His)
|
rs770930747
|
0.00001
|
NM_000337.6(SGCD):c.359A>C (p.Lys120Thr)
|
rs1385323214
|
0.00001
|
NM_000337.6(SGCD):c.35G>A (p.Ser12Asn)
|
rs1449665448
|
0.00001
|
NM_000337.6(SGCD):c.421G>T (p.Val141Leu)
|
rs1382070084
|
0.00001
|
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys)
|
rs1324593212
|
0.00001
|
NM_000337.6(SGCD):c.461A>G (p.Asn154Ser)
|
rs759767804
|
0.00001
|
NM_000337.6(SGCD):c.475G>A (p.Val159Ile)
|
rs370327314
|
0.00001
|
NM_000337.6(SGCD):c.506C>T (p.Ala169Val)
|
rs876658001
|
0.00001
|
NM_000337.6(SGCD):c.532A>G (p.Ile178Val)
|
rs1200525320
|
0.00001
|
NM_000337.6(SGCD):c.547G>A (p.Val183Ile)
|
rs751421543
|
0.00001
|
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)
|
rs769250018
|
0.00001
|
NM_000337.6(SGCD):c.592C>T (p.Arg198Trp)
|
rs561825515
|
0.00001
|
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser)
|
rs794727901
|
0.00001
|
NM_000337.6(SGCD):c.699+3G>A
|
rs1757394496
|
0.00001
|
NM_000337.6(SGCD):c.715G>A (p.Ala239Thr)
|
rs373871327
|
0.00001
|
NM_000337.6(SGCD):c.761C>A (p.Thr254Lys)
|
rs372607729
|
0.00001
|
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr)
|
rs772799792
|
0.00001
|
NM_000337.6(SGCD):c.821C>T (p.Ser274Phe)
|
rs768051118
|
0.00001
|
NC_000005.9:g.(?_155756567)_(155756609_?)dup
|
|
|
NC_000005.9:g.(?_155756587)_(155756609_?)del
|
|
|
NC_000005.9:g.(?_155756587)_(156186401_?)dup
|
|
|
NC_000005.9:g.(?_156184572)_(156186401_?)dup
|
|
|
NM_000337.6(SGCD):c.101G>A (p.Cys34Tyr)
|
rs757994622
|
|
NM_000337.6(SGCD):c.104T>C (p.Leu35Pro)
|
rs1014551583
|
|
NM_000337.6(SGCD):c.112T>C (p.Phe38Leu)
|
|
|
NM_000337.6(SGCD):c.115G>C (p.Val39Leu)
|
|
|
NM_000337.6(SGCD):c.116T>C (p.Val39Ala)
|
rs794729164
|
|
NM_000337.6(SGCD):c.121C>A (p.Leu41Ile)
|
rs769047953
|
|
NM_000337.6(SGCD):c.127A>T (p.Met43Leu)
|
rs2127716663
|
|
NM_000337.6(SGCD):c.130A>G (p.Ile44Val)
|
|
|
NM_000337.6(SGCD):c.131T>G (p.Ile44Ser)
|
rs1419851820
|
|
NM_000337.6(SGCD):c.155T>C (p.Met52Thr)
|
rs2127716699
|
|
NM_000337.6(SGCD):c.175G>T (p.Val59Phe)
|
rs1274415049
|
|
NM_000337.6(SGCD):c.197G>C (p.Gly66Ala)
|
rs1581095772
|
|
NM_000337.6(SGCD):c.242G>C (p.Gly81Ala)
|
rs2127875419
|
|
NM_000337.6(SGCD):c.25C>T (p.His9Tyr)
|
rs1320640424
|
|
NM_000337.6(SGCD):c.262C>T (p.Pro88Ser)
|
rs1489575164
|
|
NM_000337.6(SGCD):c.265C>G (p.Leu89Val)
|
rs754342073
|
|
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn)
|
rs786205286
|
|
NM_000337.6(SGCD):c.271G>A (p.Ala91Thr)
|
|
|
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln)
|
rs1159364901
|
|
NM_000337.6(SGCD):c.285G>C (p.Gln95His)
|
rs1421460814
|
|
NM_000337.6(SGCD):c.28C>T (p.His10Tyr)
|
rs2127716448
|
|
NM_000337.6(SGCD):c.296G>T (p.Gly99Val)
|
rs955284985
|
|
NM_000337.6(SGCD):c.298A>T (p.Asn100Tyr)
|
|
|
NM_000337.6(SGCD):c.3+1G>T
|
rs777787493
|
|
NM_000337.6(SGCD):c.310T>C (p.Phe104Leu)
|
rs989244785
|
|
NM_000337.6(SGCD):c.313_315del (p.Lys105del)
|
rs1760622721
|
|
NM_000337.6(SGCD):c.315G>C (p.Lys105Asn)
|
rs1760622985
|
|
NM_000337.6(SGCD):c.337A>C (p.Asn113His)
|
rs1760624404
|
|
NM_000337.6(SGCD):c.354G>C (p.Gln118His)
|
rs770930747
|
|
NM_000337.6(SGCD):c.356C>G (p.Thr119Ser)
|
rs1581216333
|
|
NM_000337.6(SGCD):c.356C>T (p.Thr119Ile)
|
rs1581216333
|
|
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu)
|
rs956992133
|
|
NM_000337.6(SGCD):c.373C>T (p.Leu125Phe)
|
|
|
NM_000337.6(SGCD):c.376A>G (p.Ile126Val)
|
|
|
NM_000337.6(SGCD):c.382+4A>G
|
|
|
NM_000337.6(SGCD):c.383G>A (p.Gly128Asp)
|
|
|
NM_000337.6(SGCD):c.38C>T (p.Thr13Ile)
|
rs1768840932
|
|
NM_000337.6(SGCD):c.397G>C (p.Glu133Gln)
|
rs746717495
|
|
NM_000337.6(SGCD):c.40A>G (p.Met14Val)
|
|
|
NM_000337.6(SGCD):c.413A>G (p.Lys138Arg)
|
|
|
NM_000337.6(SGCD):c.413A>T (p.Lys138Ile)
|
rs1760869370
|
|
NM_000337.6(SGCD):c.414A>T (p.Lys138Asn)
|
rs1760869467
|
|
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile)
|
rs886044160
|
|
NM_000337.6(SGCD):c.41T>C (p.Met14Thr)
|
|
|
NM_000337.6(SGCD):c.437G>T (p.Gly146Val)
|
rs1438925313
|
|
NM_000337.6(SGCD):c.446T>C (p.Leu149Pro)
|
|
|
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)
|
rs766924806
|
|
NM_000337.6(SGCD):c.467A>G (p.Glu156Gly)
|
|
|
NM_000337.6(SGCD):c.469G>A (p.Val157Met)
|
rs2113389554
|
|
NM_000337.6(SGCD):c.47G>A (p.Gly16Asp)
|
|
|
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr)
|
rs886043902
|
|
NM_000337.6(SGCD):c.488G>A (p.Arg163Lys)
|
|
|
NM_000337.6(SGCD):c.491T>C (p.Leu164Ser)
|
rs2113389732
|
|
NM_000337.6(SGCD):c.503-9T>A
|
|
|
NM_000337.6(SGCD):c.534A>G (p.Ile178Met)
|
rs1474496504
|
|
NM_000337.6(SGCD):c.541C>T (p.Pro181Ser)
|
|
|
NM_000337.6(SGCD):c.56G>C (p.Gly19Ala)
|
|
|
NM_000337.6(SGCD):c.580_582dup (p.Glu194dup)
|
rs2113176912
|
|
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)
|
rs1757387093
|
|
NM_000337.6(SGCD):c.590C>G (p.Thr197Ser)
|
rs1241850589
|
|
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)
|
rs1327580871
|
|
NM_000337.6(SGCD):c.620G>A (p.Gly207Glu)
|
|
|
NM_000337.6(SGCD):c.622G>A (p.Val208Met)
|
|
|
NM_000337.6(SGCD):c.626A>C (p.Glu209Ala)
|
|
|
NM_000337.6(SGCD):c.631A>C (p.Asn211His)
|
rs527801800
|
|
NM_000337.6(SGCD):c.649A>G (p.Met217Val)
|
rs2113177878
|
|
NM_000337.6(SGCD):c.662G>A (p.Cys221Tyr)
|
rs1561899959
|
|
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter)
|
rs1175344271
|
|
NM_000337.6(SGCD):c.683A>C (p.Glu228Ala)
|
rs2113178162
|
|
NM_000337.6(SGCD):c.691G>A (p.Asp231Asn)
|
rs2113178203
|
|
NM_000337.6(SGCD):c.699+8del
|
rs1581539353
|
|
NM_000337.6(SGCD):c.735A>T (p.Arg245Ser)
|
|
|
NM_000337.6(SGCD):c.744T>G (p.His248Gln)
|
rs1160680799
|
|
NM_000337.6(SGCD):c.760A>G (p.Thr254Ala)
|
|
|
NM_000337.6(SGCD):c.761C>T (p.Thr254Ile)
|
rs372607729
|
|
NM_000337.6(SGCD):c.775_777del (p.Lys259del)
|
rs1207864818
|
|
NM_000337.6(SGCD):c.790T>C (p.Cys264Arg)
|
rs2113186659
|
|
NM_000337.6(SGCD):c.792C>G (p.Cys264Trp)
|
rs367616773
|
|
NM_000337.6(SGCD):c.793G>C (p.Val265Leu)
|
|
|
NM_000337.6(SGCD):c.798C>A (p.Cys266Ter)
|
rs371850230
|
|
NM_000337.6(SGCD):c.815T>G (p.Phe272Cys)
|
|
|
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser)
|
rs753240054
|
|
NM_000337.6(SGCD):c.833C>G (p.Ala278Gly)
|
|
|
NM_000337.6(SGCD):c.835G>A (p.Gly279Arg)
|
|
|
NM_000337.6(SGCD):c.841A>G (p.Thr281Ala)
|
|
|
NM_000337.6(SGCD):c.865T>C (p.Cys289Arg)
|
|
|