ClinVar Miner

List of variants studied for Progressive myoclonic epilepsy by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 1050
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_005506.4(SCARB2):c.1113+14T>A rs35369082 0.21009
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_005506.4(SCARB2):c.48G>C (p.Leu16=) rs72857097 0.04875
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile) rs2228380 0.02529
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258 0.00858
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386 0.00619
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_005506.4(SCARB2):c.1239+14C>T rs143699909 0.00432
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_005506.4(SCARB2):c.171T>C (p.Pro57=) rs199895330 0.00232
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_005506.4(SCARB2):c.704+16T>C rs199686576 0.00148
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183 0.00145
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro) rs138510884 0.00108
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_005670.4(EPM2A):c.171G>T (p.Pro57=) rs531330673 0.00086
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_000100.4(CSTB):c.54C>T (p.His18=) rs557717323 0.00073
NM_004287.5(GOSR2):c.369A>G (p.Ser123=) rs150381512 0.00064
NM_005506.4(SCARB2):c.424-4G>A rs368869126 0.00060
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156 0.00057
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00054
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) rs143754727 0.00052
NM_005506.4(SCARB2):c.276-7C>G rs200507087 0.00042
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_005670.4(EPM2A):c.718+19C>G rs370750611 0.00040
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366 0.00037
NM_004287.5(GOSR2):c.72G>A (p.Thr24=) rs145772886 0.00036
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609 0.00032
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854 0.00029
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344 0.00029
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_005506.4(SCARB2):c.275+7C>T rs777137419 0.00026
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576 0.00025
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987 0.00023
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786 0.00019
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473 0.00019
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) rs770760366 0.00016
NM_004287.5(GOSR2):c.94+7A>C rs376231923 0.00016
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135 0.00016
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772 0.00016
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468 0.00016
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223 0.00016
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00015
NM_005506.4(SCARB2):c.424-5C>T rs192876326 0.00014
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543 0.00014
NM_004287.5(GOSR2):c.336+9G>A rs200210055 0.00013
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn) rs760846460 0.00012
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe) rs144791636 0.00012
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063 0.00012
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376 0.00012
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val) rs147142116 0.00011
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932 0.00011
NM_005670.4(EPM2A):c.102G>C (p.Pro34=) rs1014133463 0.00011
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val) rs199856913 0.00011
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191 0.00011
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005 0.00011
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr) rs559906825 0.00010
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) rs141380070 0.00010
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val) rs756606813 0.00010
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=) rs144878666 0.00010
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala) rs188036542 0.00010
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr) rs763719276 0.00010
NM_005670.4(EPM2A):c.49C>G (p.Arg17Gly) rs767010700 0.00010
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser) rs141975071 0.00010
NM_000100.4(CSTB):c.183C>T (p.Asp61=) rs772899788 0.00009
NM_004287.5(GOSR2):c.203+3A>G rs201423456 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_005506.4(SCARB2):c.1187+18C>T rs202159028 0.00009
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204 0.00009
NM_005506.4(SCARB2):c.24G>A (p.Thr8=) rs772501510 0.00009
NM_005506.4(SCARB2):c.275+20T>C rs377180838 0.00009
NM_005506.4(SCARB2):c.402A>G (p.Arg134=) rs778684185 0.00009
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713 0.00009
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199 0.00009
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu) rs748273406 0.00008
NM_000100.4(CSTB):c.45G>A (p.Glu15=) rs1057521317 0.00007
NM_004287.5(GOSR2):c.336+14G>A rs201083529 0.00007
NM_004287.5(GOSR2):c.519C>T (p.Gly173=) rs552055294 0.00007
NM_005506.4(SCARB2):c.117+19T>C rs774812479 0.00007
NM_005506.4(SCARB2):c.504T>A (p.Phe168Leu) rs780352333 0.00007
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro) rs569851503 0.00006
NM_004287.5(GOSR2):c.149G>A (p.Arg50His) rs377765254 0.00006
NM_004287.5(GOSR2):c.393G>T (p.Gln131His) rs182039780 0.00006
NM_005506.4(SCARB2):c.1187+12T>C rs532651260 0.00006
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409 0.00006
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser) rs753867771 0.00006
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His) rs1393744393 0.00006
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys) rs781291421 0.00006
NM_005670.4(EPM2A):c.984G>T (p.Val328=) rs200996083 0.00006
NM_000100.4(CSTB):c.26C>T (p.Thr9Met) rs778785343 0.00005
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) rs137975476 0.00005
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys) rs144472114 0.00005
NM_005506.4(SCARB2):c.118-12G>T rs753744775 0.00005
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr) rs1064794450 0.00005
NM_005506.4(SCARB2):c.588T>C (p.Ser196=) rs761204416 0.00005
NM_000100.4(CSTB):c.120C>T (p.Ala40=) rs368198839 0.00004
NM_000100.4(CSTB):c.147G>A (p.Ala49=) rs766654703 0.00004
NM_000100.4(CSTB):c.175G>A (p.Val59Ile) rs531685360 0.00004
NM_000100.4(CSTB):c.192C>T (p.Phe64=) rs773820884 0.00004
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu) rs753004113 0.00004
NM_000100.4(CSTB):c.224A>G (p.His75Arg) rs755073483 0.00004
NM_000100.4(CSTB):c.264C>T (p.Asn88=) rs767258722 0.00004
NM_000100.4(CSTB):c.67-10T>G rs199873087 0.00004
NM_000100.4(CSTB):c.67-12C>T rs776841907 0.00004
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) rs755662176 0.00004
NM_004287.5(GOSR2):c.204-7A>G rs746177544 0.00004
NM_004287.5(GOSR2):c.272G>A (p.Arg91His) rs145168042 0.00004
NM_004287.5(GOSR2):c.405C>T (p.Asn135=) rs753166413 0.00004
NM_004287.5(GOSR2):c.477+20A>T rs778488918 0.00004
NM_004287.5(GOSR2):c.637T>C (p.Ter213Arg) rs1229223114 0.00004
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg) rs373000501 0.00004
NM_005506.4(SCARB2):c.1089T>C (p.His363=) rs753197792 0.00004
NM_005506.4(SCARB2):c.1240-18A>G rs371940249 0.00004
NM_005506.4(SCARB2):c.1266G>A (p.Ala422=) rs150330299 0.00004
NM_005506.4(SCARB2):c.1273C>T (p.Leu425=) rs764452245 0.00004
NM_005506.4(SCARB2):c.1398+14dup rs745656715 0.00004
NM_005506.4(SCARB2):c.522C>T (p.Asp174=) rs375051752 0.00004
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser) rs150870503 0.00004
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met) rs148588727 0.00004
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695 0.00004
NM_005506.4(SCARB2):c.93G>A (p.Lys31=) rs558215488 0.00004
NM_005506.4(SCARB2):c.9A>G (p.Arg3=) rs148558907 0.00004
NM_005670.4(EPM2A):c.100C>G (p.Pro34Ala) rs796052438 0.00004
NM_005670.4(EPM2A):c.348C>T (p.Asn116=) rs760860945 0.00004
NM_005670.4(EPM2A):c.476+7A>G rs756197281 0.00004
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu) rs148475381 0.00004
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg) rs763098296 0.00004
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) rs755742563 0.00004
NM_005670.4(EPM2A):c.918C>T (p.Asp306=) rs375436219 0.00004
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr) rs780826386 0.00004
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg) rs935774172 0.00003
NM_000100.4(CSTB):c.96C>T (p.Asn32=) rs1436155713 0.00003
NM_000100.4(CSTB):c.9C>T (p.Cys3=) rs555930471 0.00003
NM_004287.5(GOSR2):c.105C>T (p.Asn35=) rs780832143 0.00003
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys) rs747328256 0.00003
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln) rs760503363 0.00003
NM_004287.5(GOSR2):c.29+13C>T rs747791818 0.00003
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro) rs751635119 0.00003
NM_004287.5(GOSR2):c.447T>C (p.Asp149=) rs750298260 0.00003
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys) rs34572603 0.00003
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp) rs1305687118 0.00003
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) rs369247929 0.00003
NM_004287.5(GOSR2):c.619G>A (p.Val207Met) rs780839289 0.00003
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met) rs528931142 0.00003
NM_004287.5(GOSR2):c.8C>A (p.Pro3His) rs1131691533 0.00003
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val) rs542349309 0.00003
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=) rs564647544 0.00003
NM_005506.4(SCARB2):c.117G>A (p.Lys39=) rs1006710581 0.00003
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val) rs778593496 0.00003
NM_005506.4(SCARB2):c.1263G>A (p.Thr421=) rs137992547 0.00003
NM_005506.4(SCARB2):c.1332G>A (p.Ala444=) rs768343387 0.00003
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005506.4(SCARB2):c.468C>T (p.Ile156=) rs771468161 0.00003
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys) rs751711805 0.00003
NM_005506.4(SCARB2):c.582T>C (p.Asp194=) rs772085575 0.00003
NM_005506.4(SCARB2):c.824+18A>G rs755013803 0.00003
NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg) rs963202088 0.00003
NM_005670.4(EPM2A):c.156G>A (p.Leu52=) rs1196934711 0.00003
NM_005670.4(EPM2A):c.190G>A (p.Val64Met) rs749279494 0.00003
NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr) rs992596583 0.00003
NM_005670.4(EPM2A):c.241G>A (p.Val81Met) rs747386643 0.00003
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp) rs376750373 0.00003
NM_005670.4(EPM2A):c.441T>C (p.Phe147=) rs965931486 0.00003
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg) rs796052423 0.00003
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr) rs748048885 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val) rs138798058 0.00003
NM_005670.4(EPM2A):c.762G>A (p.Ala254=) rs199586710 0.00003
NM_005670.4(EPM2A):c.801C>T (p.Asn267=) rs181746165 0.00003
NM_005670.4(EPM2A):c.807G>A (p.Gly269=) rs755516128 0.00003
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800 0.00003
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys) rs754779408 0.00003
NM_005670.4(EPM2A):c.936G>A (p.Arg312=) rs773315475 0.00003
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys) rs762082236 0.00002
NM_000100.4(CSTB):c.168+13C>T rs910966552 0.00002
NM_000100.4(CSTB):c.180C>T (p.Gly60=) rs771027631 0.00002
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser) rs766285245 0.00002
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714 0.00002
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile) rs1407806851 0.00002
NM_004287.5(GOSR2):c.231C>T (p.Val77=) rs774359254 0.00002
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp) rs201101417 0.00002
NM_004287.5(GOSR2):c.29+9C>T rs951923133 0.00002
NM_004287.5(GOSR2):c.30-14T>C rs756098096 0.00002
NM_004287.5(GOSR2):c.336+13C>T rs562959681 0.00002
NM_004287.5(GOSR2):c.546C>T (p.Ile182=) rs1023140976 0.00002
NM_004287.5(GOSR2):c.563A>G (p.Gln188Arg) rs776748629 0.00002
NM_004287.5(GOSR2):c.576T>C (p.Phe192=) rs1433213435 0.00002
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile) rs768377570 0.00002
NM_004287.5(GOSR2):c.636A>G (p.Thr212=) rs990159762 0.00002
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly) rs200071814 0.00002
NM_004287.5(GOSR2):c.94+5G>A rs754004382 0.00002
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val) rs1311037416 0.00002
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser) rs771661901 0.00002
NM_005506.4(SCARB2):c.238A>C (p.Thr80Pro) rs767397350 0.00002
NM_005506.4(SCARB2):c.275+14A>G rs759250571 0.00002
NM_005506.4(SCARB2):c.291A>G (p.Lys97=) rs377635556 0.00002
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile) rs557392749 0.00002
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910 0.00002
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu) rs370666555 0.00002
NM_005506.4(SCARB2):c.825-3C>T rs772593602 0.00002
NM_005506.4(SCARB2):c.825-8C>T rs201397845 0.00002
NM_005506.4(SCARB2):c.904T>C (p.Leu302=) rs377511764 0.00002
NM_005506.4(SCARB2):c.96T>C (p.Ala32=) rs752537434 0.00002
NM_005670.4(EPM2A):c.154C>T (p.Leu52=) rs1266603162 0.00002
NM_005670.4(EPM2A):c.249G>A (p.Thr83=) rs1468442057 0.00002
NM_005670.4(EPM2A):c.261G>A (p.Lys87=) rs755681637 0.00002
NM_005670.4(EPM2A):c.302-12T>C rs771456156 0.00002
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649 0.00002
NM_005670.4(EPM2A):c.352G>A (p.Val118Met) rs903313803 0.00002
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430 0.00002
NM_005670.4(EPM2A):c.477-13A>G rs778452911 0.00002
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp) rs777767978 0.00002
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu) rs367827948 0.00002
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170 0.00002
NM_005670.4(EPM2A):c.69G>T (p.Val23=) rs951254850 0.00002
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys) rs373652439 0.00002
NM_005670.4(EPM2A):c.768G>A (p.Leu256=) rs753561820 0.00002
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr) rs748514820 0.00002
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387 0.00002
NM_005670.4(EPM2A):c.924G>A (p.Glu308=) rs1439211009 0.00002
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp) rs766334722 0.00002
NM_000100.4(CSTB):c.135C>T (p.Ser45=) rs375008755 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile) rs541671661 0.00001
NM_000100.4(CSTB):c.160T>G (p.Phe54Val) rs774291632 0.00001
NM_000100.4(CSTB):c.169-10C>G rs1487271257 0.00001
NM_000100.4(CSTB):c.169G>T (p.Val57Leu) rs796052394 0.00001
NM_000100.4(CSTB):c.16C>G (p.Pro6Ala) rs1236504207 0.00001
NM_000100.4(CSTB):c.174C>T (p.His58=) rs763095750 0.00001
NM_000100.4(CSTB):c.177C>T (p.Val59=) rs765477010 0.00001
NM_000100.4(CSTB):c.184G>A (p.Glu62Lys) rs147307021 0.00001
NM_000100.4(CSTB):c.196C>T (p.His66Tyr) rs748818442 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000100.4(CSTB):c.201G>A (p.Leu67=) rs1249703879 0.00001
NM_000100.4(CSTB):c.213A>G (p.Gln71=) rs758639236 0.00001
NM_000100.4(CSTB):c.243C>T (p.Thr81=) rs2083999070 0.00001
NM_000100.4(CSTB):c.268G>A (p.Ala90Thr) rs761504637 0.00001
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly) rs138337167 0.00001
NM_000100.4(CSTB):c.274C>T (p.His92Tyr) rs796052393 0.00001
NM_000100.4(CSTB):c.27G>C (p.Thr9=) rs945357152 0.00001
NM_000100.4(CSTB):c.28C>G (p.Gln10Glu) rs1399970116 0.00001
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys) rs1186810947 0.00001
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys) rs1358304104 0.00001
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser) rs148962223 0.00001
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val) rs756276963 0.00001
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg) rs772763319 0.00001
NM_004287.5(GOSR2):c.140G>A (p.Arg47His) rs771228855 0.00001
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr) rs897281647 0.00001
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys) rs1286041018 0.00001
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg) rs1396367618 0.00001
NM_004287.5(GOSR2):c.177C>T (p.Pro59=) rs1467890727 0.00001
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg) rs749270151 0.00001
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046 0.00001
NM_004287.5(GOSR2):c.186A>G (p.Lys62=) rs755897636 0.00001
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) rs879328855 0.00001
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp) rs770149230 0.00001
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro) rs780211637 0.00001
NM_004287.5(GOSR2):c.237C>T (p.His79=) rs1186777949 0.00001
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr) rs920586501 0.00001
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val) rs577835455 0.00001
NM_004287.5(GOSR2):c.249G>A (p.Ala83=) rs1057520593 0.00001
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser) rs374912150 0.00001
NM_004287.5(GOSR2):c.266A>G (p.His89Arg) rs1598989011 0.00001
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu) rs1278419518 0.00001
NM_004287.5(GOSR2):c.29+15G>T rs374396285 0.00001
NM_004287.5(GOSR2):c.29+3G>A rs794726915 0.00001
NM_004287.5(GOSR2):c.30-15C>T rs750704163 0.00001
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) rs764802895 0.00001
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala) rs780448159 0.00001
NM_004287.5(GOSR2):c.336C>T (p.Asn112=) rs755211944 0.00001
NM_004287.5(GOSR2):c.358A>G (p.Met120Val) rs769454681 0.00001
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys) rs374613085 0.00001
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro) rs1189596801 0.00001
NM_004287.5(GOSR2):c.375G>A (p.Gln125=) rs768238866 0.00001
NM_004287.5(GOSR2):c.39C>T (p.His13=) rs747877774 0.00001
NM_004287.5(GOSR2):c.451C>G (p.Leu151Val) rs756144831 0.00001
NM_004287.5(GOSR2):c.478-4C>G rs777442803 0.00001
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) rs772342696 0.00001
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp) rs771037415 0.00001
NM_004287.5(GOSR2):c.55A>G (p.Met19Val) rs770329469 0.00001
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr) rs374861039 0.00001
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly) rs773543394 0.00001
NM_004287.5(GOSR2):c.94+12A>G rs369271685 0.00001
NM_004287.5(GOSR2):c.94+15G>A rs777596710 0.00001
NM_004287.5(GOSR2):c.94+4A>G rs796052540 0.00001
NM_004287.5(GOSR2):c.95-7T>C rs752611190 0.00001
NM_005506.4(SCARB2):c.1015T>C (p.Phe339Leu) rs780194648 0.00001
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr) rs1010410881 0.00001
NM_005506.4(SCARB2):c.1113+19C>G rs1362440207 0.00001
NM_005506.4(SCARB2):c.114G>A (p.Glu38=) rs534686738 0.00001
NM_005506.4(SCARB2):c.117+10G>A rs760111311 0.00001
NM_005506.4(SCARB2):c.117+13G>A rs1391392584 0.00001
NM_005506.4(SCARB2):c.117+14G>A rs772998739 0.00001
NM_005506.4(SCARB2):c.117+15G>T rs762251387 0.00001
NM_005506.4(SCARB2):c.118-3T>G rs755638994 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.1188-5T>C rs775387526 0.00001
NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met) rs759493134 0.00001
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=) rs574498998 0.00001
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile) rs770343701 0.00001
NM_005506.4(SCARB2):c.1239+8C>G rs369265725 0.00001
NM_005506.4(SCARB2):c.1240-9C>T rs369557905 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val) rs746370059 0.00001
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met) rs1035540343 0.00001
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val) rs376806999 0.00001
NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile) rs1232863838 0.00001
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val) rs773957659 0.00001
NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu) rs1350213956 0.00001
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro) rs757381866 0.00001
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs) rs1233094134 0.00001
NM_005506.4(SCARB2):c.1399-8T>C rs1731903272 0.00001
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile) rs796052948 0.00001
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser) rs1191433680 0.00001
NM_005506.4(SCARB2):c.1425C>T (p.Leu475=) rs780985651 0.00001
NM_005506.4(SCARB2):c.147A>C (p.Ala49=) rs764449103 0.00001
NM_005506.4(SCARB2):c.172C>T (p.Leu58=) rs1051789209 0.00001
NM_005506.4(SCARB2):c.18C>T (p.Phe6=) rs1733112720 0.00001
NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser) rs1394046858 0.00001
NM_005506.4(SCARB2):c.245G>A (p.Arg82Gln) rs1422181706 0.00001
NM_005506.4(SCARB2):c.263C>T (p.Pro88Leu) rs1732696835 0.00001
NM_005506.4(SCARB2):c.264A>G (p.Pro88=) rs765664728 0.00001
NM_005506.4(SCARB2):c.276-17C>T rs1732375088 0.00001
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226 0.00001
NM_005506.4(SCARB2):c.350A>G (p.Tyr117Cys) rs754341111 0.00001
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala) rs776680365 0.00001
NM_005506.4(SCARB2):c.400A>C (p.Arg134=) rs747696444 0.00001
NM_005506.4(SCARB2):c.423+7A>C rs1380805649 0.00001
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val) rs772434203 0.00001
NM_005506.4(SCARB2):c.469G>A (p.Glu157Lys) rs760128942 0.00001
NM_005506.4(SCARB2):c.579C>T (p.Pro193=) rs148029250 0.00001
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys) rs1018285383 0.00001
NM_005506.4(SCARB2):c.612+5G>A rs1019363350 0.00001
NM_005506.4(SCARB2):c.613-14T>G rs1484418425 0.00001
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe) rs751953388 0.00001
NM_005506.4(SCARB2):c.664T>C (p.Tyr222His) rs1732253776 0.00001
NM_005506.4(SCARB2):c.690A>G (p.Glu230=) rs957776724 0.00001
NM_005506.4(SCARB2):c.704+17A>G rs762520392 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.704+5G>A rs774271963 0.00001
NM_005506.4(SCARB2):c.705-20C>G rs747460425 0.00001
NM_005506.4(SCARB2):c.705-7A>G rs1217073681 0.00001
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val) rs200332825 0.00001
NM_005506.4(SCARB2):c.716G>T (p.Trp239Leu) rs755176349 0.00001
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu) rs1241257632 0.00001
NM_005506.4(SCARB2):c.787G>C (p.Asp263His) rs759410840 0.00001
NM_005506.4(SCARB2):c.79C>T (p.Arg27Trp) rs1466314804 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu) rs777478545 0.00001
NM_005506.4(SCARB2):c.921C>T (p.Asp307=) rs1732196836 0.00001
NM_005506.4(SCARB2):c.953G>T (p.Cys318Phe) rs148780369 0.00001
NM_005670.4(EPM2A):c.120G>A (p.Leu40=) rs1264709179 0.00001
NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn) rs1367012950 0.00001
NM_005670.4(EPM2A):c.149G>T (p.Gly50Val) rs796052422 0.00001
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu) rs1229724993 0.00001
NM_005670.4(EPM2A):c.181C>G (p.Leu61Val) rs563875151 0.00001
NM_005670.4(EPM2A):c.18G>A (p.Gly6=) rs1432262857 0.00001
NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys) rs796052425 0.00001
NM_005670.4(EPM2A):c.210G>A (p.Glu70=) rs878854780 0.00001
NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu) rs1263035227 0.00001
NM_005670.4(EPM2A):c.215C>T (p.Ala72Val) rs1284392729 0.00001
NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg) rs1184012721 0.00001
NM_005670.4(EPM2A):c.237C>T (p.Gly79=) rs755339527 0.00001
NM_005670.4(EPM2A):c.252C>T (p.Phe84=) rs1362231306 0.00001
NM_005670.4(EPM2A):c.262T>C (p.Phe88Leu) rs1463000703 0.00001
NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp) rs752244019 0.00001
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln) rs767203075 0.00001
NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu) rs1239406349 0.00001
NM_005670.4(EPM2A):c.279G>A (p.Pro93=) rs370423440 0.00001
NM_005670.4(EPM2A):c.289C>G (p.Leu97Val) rs1398721266 0.00001
NM_005670.4(EPM2A):c.301+16G>A rs1286855280 0.00001
NM_005670.4(EPM2A):c.301+1G>T rs1361221383 0.00001
NM_005670.4(EPM2A):c.301+4T>C rs761970395 0.00001
NM_005670.4(EPM2A):c.301+5T>C rs776655093 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser) rs1448945231 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583 0.00001
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) rs1480939817 0.00001
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys) rs757199020 0.00001
NM_005670.4(EPM2A):c.36C>T (p.Ala12=) rs1287653139 0.00001
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala) rs773728573 0.00001
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala) rs144204777 0.00001
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe) rs1780893400 0.00001
NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser) rs1310207444 0.00001
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val) rs753781421 0.00001
NM_005670.4(EPM2A):c.477-14T>C rs914299630 0.00001
NM_005670.4(EPM2A):c.477-15A>G rs542654431 0.00001
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val) rs147645370 0.00001
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys) rs371974399 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627 0.00001
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) rs191406622 0.00001
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692 0.00001
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys) rs186710183 0.00001
NM_005670.4(EPM2A):c.666G>A (p.Arg222=) rs762189100 0.00001
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val) rs754313309 0.00001
NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp) rs1554269710 0.00001
NM_005670.4(EPM2A):c.714C>T (p.Thr238=) rs762653955 0.00001
NM_005670.4(EPM2A):c.719-2A>T rs772082648 0.00001
NM_005670.4(EPM2A):c.719-5C>T rs768538455 0.00001
NM_005670.4(EPM2A):c.726A>G (p.Val242=) rs1485448690 0.00001
NM_005670.4(EPM2A):c.744G>A (p.Ala248=) rs538717552 0.00001
NM_005670.4(EPM2A):c.774G>A (p.Lys258=) rs1014840416 0.00001
NM_005670.4(EPM2A):c.813C>T (p.Gly271=) rs1162902926 0.00001
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys) rs765820100 0.00001
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) rs763812238 0.00001
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val) rs1027738243 0.00001
NM_005670.4(EPM2A):c.834C>T (p.Cys278=) rs759427349 0.00001
NM_005670.4(EPM2A):c.927C>G (p.Ala309=) rs1181128980 0.00001
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln) rs762852066 0.00001
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr) rs189479757 0.00001
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe) rs941854726 0.00001
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys) rs746413047 0.00001
NM_005670.4(EPM2A):c.974G>A (p.Arg325His) rs777308612 0.00001
NC_000004.11:g.(?_76481293)_(77700330_?)del
NC_000004.11:g.(?_77082846)_(77102274_?)dup
NC_000004.11:g.(?_77082866)_(77102264_?)del
NC_000004.11:g.(?_77082866)_(77102274_?)dup
NC_000004.11:g.(?_77116840)_(77134696_?)dup
NC_000004.11:g.(?_77116840)_(77134716_?)dup
NC_000004.11:g.(?_77116850)_(77134696_?)dup
NC_000004.12:g.76163382CT[1]
NC_000006.11:g.(?_145948552)_(145956642_?)del
NC_000006.11:g.(?_146056334)_(146056634_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000017.10:g.(?_44845686)_(45016126_?)del
NC_000017.10:g.(?_44845686)_(45016126_?)dup
NC_000017.10:g.(?_45000559)_(45016126_?)dup
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000021.8:g.(?_43160998)_(47754702_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)dup
NC_000021.8:g.(?_44838130)_(45196150_?)dup
NC_000021.8:g.(?_45194063)_(45196170_?)dup
NC_000021.8:g.(?_45194083)_(45196150_?)del
NC_000021.9:g.(?_43772665)_(43777375_?)dup
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu) rs2084002121
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser) rs748162136
NM_000100.4(CSTB):c.111G>A (p.Val37=)
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr) rs1365612504
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
NM_000100.4(CSTB):c.121del (p.Val41fs) rs1257171692
NM_000100.4(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
NM_000100.4(CSTB):c.139G>C (p.Val47Leu) rs140799752
NM_000100.4(CSTB):c.140T>G (p.Val47Gly) rs2084001744
NM_000100.4(CSTB):c.144C>T (p.Val48=)
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu) rs754421704
NM_000100.4(CSTB):c.15G>A (p.Ala5=)
NM_000100.4(CSTB):c.168+19G>T
NM_000100.4(CSTB):c.168+5A>G
NM_000100.4(CSTB):c.168+6G>C
NM_000100.4(CSTB):c.168+7T>C
NM_000100.4(CSTB):c.168+8G>A rs556221258
NM_000100.4(CSTB):c.169-13G>A
NM_000100.4(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.4(CSTB):c.172C>T (p.His58Tyr) rs2083999686
NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys) rs1569005540
NM_000100.4(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.4(CSTB):c.193G>C (p.Val65Leu) rs570768038
NM_000100.4(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.4(CSTB):c.207G>T (p.Val69=)
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro) rs796052392
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.21C>A (p.Ser7=) rs748254497
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln) rs2083999131
NM_000100.4(CSTB):c.246A>G (p.Leu82=) rs2123385440
NM_000100.4(CSTB):c.251_254del (p.Asn84fs) rs1555888363
NM_000100.4(CSTB):c.26C>A (p.Thr9Lys) rs778785343
NM_000100.4(CSTB):c.273G>A (p.Lys91=) rs540215875
NM_000100.4(CSTB):c.294C>T (p.Phe98=) rs2123385381
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg) rs2083998796
NM_000100.4(CSTB):c.31C>T (p.Pro11Ser) rs2084009509
NM_000100.4(CSTB):c.33G>A (p.Pro11=) rs2123387882
NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)
NM_000100.4(CSTB):c.39C>G (p.Thr13=) rs1419893626
NM_000100.4(CSTB):c.42C>G (p.Ala14=) rs2123387857
NM_000100.4(CSTB):c.47C>T (p.Thr16Ile) rs2084009370
NM_000100.4(CSTB):c.55A>G (p.Ile19Val) rs1349028244
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.4(CSTB):c.66+10C>A
NM_000100.4(CSTB):c.66+11C>T
NM_000100.4(CSTB):c.66+14G>A
NM_000100.4(CSTB):c.66+15G>C
NM_000100.4(CSTB):c.66+20G>C rs1197240747
NM_000100.4(CSTB):c.66+3G>C
NM_000100.4(CSTB):c.67-4C>G rs2084002305
NM_000100.4(CSTB):c.96_98del (p.Asn32del) rs750620672
NM_000100.4(CSTB):c.9C>G (p.Cys3Trp) rs555930471
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly) rs1598980284
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp) rs2087304609
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr) rs2087307019
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly) rs534119817
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu) rs2085950798
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
NM_004287.5(GOSR2):c.161del (p.Leu54fs) rs2146892080
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile) rs751458272
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) rs2146691974
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu) rs1252615412
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln) rs1555709548
NM_004287.5(GOSR2):c.203+17G>T
NM_004287.5(GOSR2):c.203+8C>G
NM_004287.5(GOSR2):c.204-17C>G
NM_004287.5(GOSR2):c.204-1G>T rs1187190721
NM_004287.5(GOSR2):c.204-8A>C
NM_004287.5(GOSR2):c.204-9C>T
NM_004287.5(GOSR2):c.205C>A (p.Arg69=) rs770149230
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln) rs780211637
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg) rs2085951116
NM_004287.5(GOSR2):c.210del (p.Asp71fs) rs2146911959
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu) rs199930484
NM_004287.5(GOSR2):c.219A>G (p.Leu73=)
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
NM_004287.5(GOSR2):c.226G>C (p.Asp76His) rs2146912195
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr) rs1568171907
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro) rs2087482910
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys) rs1598988935
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
NM_004287.5(GOSR2):c.262del (p.Gln88fs) rs776869841
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys) rs2087485301
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val) rs2146913099
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys) rs2146913169
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp) rs2146913197
NM_004287.5(GOSR2):c.29+13C>A
NM_004287.5(GOSR2):c.29+17G>A
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys) rs759305157
NM_004287.5(GOSR2):c.30-10C>T rs2146849887
NM_004287.5(GOSR2):c.30-10_30-7del
NM_004287.5(GOSR2):c.30-12T>C
NM_004287.5(GOSR2):c.30-20C>T
NM_004287.5(GOSR2):c.30-4A>G
NM_004287.5(GOSR2):c.30-7T>A rs2146850100
NM_004287.5(GOSR2):c.30-8T>A rs925439682
NM_004287.5(GOSR2):c.300G>A (p.Gln100=)
NM_004287.5(GOSR2):c.300G>C (p.Gln100His) rs2087488656
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu) rs2146850344
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro) rs750960207
NM_004287.5(GOSR2):c.336+17G>T rs2146914624
NM_004287.5(GOSR2):c.336+20A>C
NM_004287.5(GOSR2):c.336+7C>A
NM_004287.5(GOSR2):c.337-13_337-12del
NM_004287.5(GOSR2):c.337-2A>G rs1568177307
NM_004287.5(GOSR2):c.337-6dup rs2146971287
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile) rs1599019391
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)
NM_004287.5(GOSR2):c.381C>T (p.Asn127=) rs761272920
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile) rs1174104260
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val) rs2088079257
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del) rs1381386644
NM_004287.5(GOSR2):c.435C>T (p.His145=) rs1599020227
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser)
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val) rs757363374
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly) rs2088083666
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)
NM_004287.5(GOSR2):c.477+19del rs755765859
NM_004287.5(GOSR2):c.477+6G>T rs1568177911
NM_004287.5(GOSR2):c.478-14C>T rs1203026971
NM_004287.5(GOSR2):c.478-6C>T
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro) rs746688685
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn) rs1425442098
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly) rs2088814830
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)
NM_004287.5(GOSR2):c.525C>T (p.Ser175=) rs2147050274
NM_004287.5(GOSR2):c.528C>T (p.Asn176=) rs2088817717
NM_004287.5(GOSR2):c.539G>A (p.Arg180Gln) rs1348639194
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu) rs765094724
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr) rs1328118330
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)
NM_004287.5(GOSR2):c.609C>T (p.Val203=)
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg) rs2147051685
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu) rs780839289
NM_004287.5(GOSR2):c.631C>T (p.Leu211=) rs2147052221
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala) rs956070241
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp) rs2147052419
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)
NM_004287.5(GOSR2):c.6T>C (p.Asp2=) rs757594881
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln) rs760997502
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala) rs12944167
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser) rs12944167
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) rs1466441723
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) rs1330994397
NM_004287.5(GOSR2):c.92A>G (p.His31Arg)
NM_004287.5(GOSR2):c.94+12A>T
NM_004287.5(GOSR2):c.94+16_94+17del rs780992578
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val) rs2086996915
NM_004287.5(GOSR2):c.95-17T>C rs553054493
NM_004287.5(GOSR2):c.95-1G>C rs1186314496
NM_004287.5(GOSR2):c.95-6G>T rs1345182096
NM_004287.5(GOSR2):c.95-7T>G rs752611190
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met) rs2146890867
NM_004287.5(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_004287.5(GOSR2):c.9C>G (p.Pro3=) rs750589437
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) rs780638384
NM_005506.4(SCARB2):c.1005C>T (p.Ile335=)
NM_005506.4(SCARB2):c.1014T>G (p.Ser338=) rs1732095676
NM_005506.4(SCARB2):c.1026T>C (p.Phe342=)
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)
NM_005506.4(SCARB2):c.1043G>A (p.Arg348Lys) rs1435706864
NM_005506.4(SCARB2):c.1056C>A (p.Ala352=)
NM_005506.4(SCARB2):c.105G>T (p.Gln35His)
NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)
NM_005506.4(SCARB2):c.1086C>T (p.Asp362=) rs1238674003
NM_005506.4(SCARB2):c.1097T>C (p.Phe366Ser) rs1374602411
NM_005506.4(SCARB2):c.1107T>A (p.Ile369=) rs2109937710
NM_005506.4(SCARB2):c.1113+16C>T
NM_005506.4(SCARB2):c.1113+1G>T rs2109937707
NM_005506.4(SCARB2):c.1114-15T>C
NM_005506.4(SCARB2):c.1114-18C>T
NM_005506.4(SCARB2):c.1114-19T>G
NM_005506.4(SCARB2):c.1114-3C>T rs1560705500
NM_005506.4(SCARB2):c.1118C>T (p.Thr373Ile) rs1732061373
NM_005506.4(SCARB2):c.1119T>G (p.Thr373=)
NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)
NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)
NM_005506.4(SCARB2):c.1164T>C (p.Tyr388=) rs777550966
NM_005506.4(SCARB2):c.117+3G>A rs1733107604
NM_005506.4(SCARB2):c.117+6G>C rs2109974158
NM_005506.4(SCARB2):c.1172A>C (p.Lys391Thr) rs1732060256
NM_005506.4(SCARB2):c.1179T>C (p.Asp393=) rs2109936359
NM_005506.4(SCARB2):c.118-10T>G rs1188258340
NM_005506.4(SCARB2):c.118-7T>C rs190362739
NM_005506.4(SCARB2):c.1182C>T (p.Asp394=)
NM_005506.4(SCARB2):c.1187+10G>C
NM_005506.4(SCARB2):c.1187+13T>C
NM_005506.4(SCARB2):c.1187+20A>G
NM_005506.4(SCARB2):c.1188-11del rs796052945
NM_005506.4(SCARB2):c.1188-15C>T rs1480025542
NM_005506.4(SCARB2):c.1188-19T>G
NM_005506.4(SCARB2):c.1188-3T>C rs1251392642
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr) rs1196467385
NM_005506.4(SCARB2):c.1201A>G (p.Ile401Val) rs1405139421
NM_005506.4(SCARB2):c.1224G>A (p.Val408=) rs1803391
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe) rs777270813
NM_005506.4(SCARB2):c.1233C>G (p.Leu411=)
NM_005506.4(SCARB2):c.1239+12G>A
NM_005506.4(SCARB2):c.1239+14_1239+17dup
NM_005506.4(SCARB2):c.1239+15G>A
NM_005506.4(SCARB2):c.1240-15T>G rs2109931990
NM_005506.4(SCARB2):c.1240-2A>G
NM_005506.4(SCARB2):c.1240-4C>T
NM_005506.4(SCARB2):c.1240-6C>G
NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)
NM_005506.4(SCARB2):c.1245T>G (p.Val415=) rs1262722686
NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)
NM_005506.4(SCARB2):c.127T>C (p.Leu43=)
NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr) rs2109931937
NM_005506.4(SCARB2):c.12C>T (p.Cys4=)
NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)
NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile) rs1731937544
NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)
NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)
NM_005506.4(SCARB2):c.1317C>G (p.Pro439=) rs1731937017
NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)
NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys) rs995674389
NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)
NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe) rs1578712032
NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)
NM_005506.4(SCARB2):c.1386A>T (p.Gly462=) rs1315496558
NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn) rs1238888097
NM_005506.4(SCARB2):c.1398+10_1398+22del rs778683141
NM_005506.4(SCARB2):c.1398+8C>A rs755919906
NM_005506.4(SCARB2):c.1398+8C>T rs755919906
NM_005506.4(SCARB2):c.1399-11C>G rs1392686046
NM_005506.4(SCARB2):c.1399-13T>C
NM_005506.4(SCARB2):c.1399-15T>A
NM_005506.4(SCARB2):c.1399-16C>G
NM_005506.4(SCARB2):c.140C>T (p.Thr47Ile) rs1732700794
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val) rs755903502
NM_005506.4(SCARB2):c.141T>C (p.Thr47=) rs2109960926
NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln) rs1480481844
NM_005506.4(SCARB2):c.1432del (p.Thr478fs) rs756112626
NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn) rs2109930564
NM_005506.4(SCARB2):c.147A>G (p.Ala49=) rs764449103
NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)
NM_005506.4(SCARB2):c.166C>T (p.Pro56Ser) rs2109960897
NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)
NM_005506.4(SCARB2):c.178G>T (p.Val60Leu) rs1287892295
NM_005506.4(SCARB2):c.201C>T (p.Phe67=) rs749098073
NM_005506.4(SCARB2):c.204T>C (p.Asn68=)
NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)
NM_005506.4(SCARB2):c.21C>T (p.Tyr7=) rs1259404552
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe) rs1560716099
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
NM_005506.4(SCARB2):c.228C>G (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)
NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)
NM_005506.4(SCARB2):c.234G>C (p.Gly78=)
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.237G>C (p.Glu79Asp) rs1348033527
NM_005506.4(SCARB2):c.245G>T (p.Arg82Leu) rs1422181706
NM_005506.4(SCARB2):c.249G>A (p.Val83=)
NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)
NM_005506.4(SCARB2):c.256G>A (p.Val86Met) rs1732697033
NM_005506.4(SCARB2):c.268A>C (p.Thr90Pro) rs1732696609
NM_005506.4(SCARB2):c.275+12C>A
NM_005506.4(SCARB2):c.276-10T>G
NM_005506.4(SCARB2):c.276-7_276-5del
NM_005506.4(SCARB2):c.299T>C (p.Ile100Thr) rs2109948743
NM_005506.4(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile) rs1732373905
NM_005506.4(SCARB2):c.315T>C (p.Asn105=) rs2109948728
NM_005506.4(SCARB2):c.328T>C (p.Ser110Pro)
NM_005506.4(SCARB2):c.343A>C (p.Lys115Gln) rs1732373432
NM_005506.4(SCARB2):c.345G>A (p.Lys115=)
NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)
NM_005506.4(SCARB2):c.346G>T (p.Ala116Ser) rs1732373270
NM_005506.4(SCARB2):c.353T>G (p.Val118Gly)
NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)
NM_005506.4(SCARB2):c.366C>G (p.Asp122Glu) rs2109948680
NM_005506.4(SCARB2):c.372T>G (p.Ser124=) rs2109948665
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu) rs1553948511
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.390T>C (p.Ile130=)
NM_005506.4(SCARB2):c.39C>A (p.Ser13=) rs2109974322
NM_005506.4(SCARB2):c.405A>G (p.Thr135=)
NM_005506.4(SCARB2):c.424-18T>G
NM_005506.4(SCARB2):c.424-19A>G
NM_005506.4(SCARB2):c.424-1G>A rs1732338984
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg) rs1560710284
NM_005506.4(SCARB2):c.444G>A (p.Gln148=)
NM_005506.4(SCARB2):c.451T>A (p.Phe151Ile) rs1732338247
NM_005506.4(SCARB2):c.451T>C (p.Phe151Leu) rs1732338247
NM_005506.4(SCARB2):c.459G>A (p.Arg153=) rs2109947357
NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)
NM_005506.4(SCARB2):c.488A>G (p.Tyr163Cys) rs1326652823
NM_005506.4(SCARB2):c.495G>A (p.Gln165=) rs748957598
NM_005506.4(SCARB2):c.508A>T (p.Thr170Ser) rs2109947296
NM_005506.4(SCARB2):c.511C>T (p.His171Tyr) rs756489019
NM_005506.4(SCARB2):c.523G>C (p.Glu175Gln) rs751711805
NM_005506.4(SCARB2):c.526T>C (p.Leu176=) rs2109947255
NM_005506.4(SCARB2):c.527T>C (p.Leu176Ser)
NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)
NM_005506.4(SCARB2):c.549A>G (p.Glu183=) rs2109947229
NM_005506.4(SCARB2):c.55_75del (p.Thr19_Val25del) rs1401788267
NM_005506.4(SCARB2):c.57C>T (p.Thr19=)
NM_005506.4(SCARB2):c.584T>G (p.Ile195Ser) rs2109947161
NM_005506.4(SCARB2):c.585C>A (p.Ile195=)
NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)
NM_005506.4(SCARB2):c.605T>C (p.Phe202Ser) rs768181886
NM_005506.4(SCARB2):c.606C>T (p.Phe202=) rs963757755
NM_005506.4(SCARB2):c.612+15C>G rs2109947094
NM_005506.4(SCARB2):c.612+8G>A
NM_005506.4(SCARB2):c.612+9A>G rs1255966631
NM_005506.4(SCARB2):c.613-16A>C
NM_005506.4(SCARB2):c.613-7T>C
NM_005506.4(SCARB2):c.638A>C (p.Tyr213Ser) rs751953388
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs) rs2109944333
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met) rs1733110733
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.678A>G (p.Thr226=) rs987942921
NM_005506.4(SCARB2):c.684T>C (p.Ile228=) rs2109944274
NM_005506.4(SCARB2):c.705-16T>G
NM_005506.4(SCARB2):c.705-19T>C
NM_005506.4(SCARB2):c.705-3T>C
NM_005506.4(SCARB2):c.705G>A (p.Thr235=) rs2109943699
NM_005506.4(SCARB2):c.713A>G (p.Asp238Gly) rs1732242578
NM_005506.4(SCARB2):c.727G>A (p.Asp243Asn) rs751498101
NM_005506.4(SCARB2):c.72G>A (p.Leu24=) rs2109974267
NM_005506.4(SCARB2):c.72G>T (p.Leu24=) rs2109974267
NM_005506.4(SCARB2):c.741_743del (p.Met247del) rs1732241629
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile) rs1553948166
NM_005506.4(SCARB2):c.764C>T (p.Ser255Phe) rs1211983888
NM_005506.4(SCARB2):c.781A>G (p.Thr261Ala) rs1732241039
NM_005506.4(SCARB2):c.78C>A (p.Ala26=)
NM_005506.4(SCARB2):c.78C>G (p.Ala26=) rs756157659
NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)
NM_005506.4(SCARB2):c.810A>T (p.Pro270=)
NM_005506.4(SCARB2):c.81G>C (p.Arg27=) rs1481115543
NM_005506.4(SCARB2):c.825-13T>C rs2109942083
NM_005506.4(SCARB2):c.825-17T>C rs2109942090
NM_005506.4(SCARB2):c.833A>G (p.Tyr278Cys) rs774730087
NM_005506.4(SCARB2):c.839C>G (p.Thr280Ser) rs768765087
NM_005506.4(SCARB2):c.84C>T (p.Val28=) rs781459404
NM_005506.4(SCARB2):c.850del (p.Tyr284fs) rs2109942038
NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)
NM_005506.4(SCARB2):c.858T>C (p.Ser286=)
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln) rs1553948019
NM_005506.4(SCARB2):c.879T>C (p.Phe293=) rs2109941982
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln) rs752667549
NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
NM_005506.4(SCARB2):c.8G>A (p.Arg3Gln) rs937537878
NM_005506.4(SCARB2):c.901A>G (p.Ile301Val) rs2109941946
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met) rs1485497925
NM_005506.4(SCARB2):c.910A>G (p.Asn304Asp) rs1732197179
NM_005506.4(SCARB2):c.927C>T (p.Ala309=) rs775395230
NM_005506.4(SCARB2):c.951C>G (p.Asn317Lys) rs1732195814
NM_005506.4(SCARB2):c.956del (p.Leu319fs) rs1732195544
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu) rs1553947990
NM_005506.4(SCARB2):c.967G>A (p.Val323Ile) rs2109941801
NM_005506.4(SCARB2):c.970C>G (p.Leu324Val) rs1732195035
NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)
NM_005506.4(SCARB2):c.994+19G>T rs2109941762
NM_005506.4(SCARB2):c.995-16_1062delinsG
NM_005506.4(SCARB2):c.998C>T (p.Ala333Val) rs2109937871
NM_005506.4(SCARB2):c.9A>T (p.Arg3=) rs148558907
NM_005670.4(EPM2A):c.101C>A (p.Pro34Gln) rs1776814515
NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu)
NM_005670.4(EPM2A):c.102G>A (p.Pro34=) rs1014133463
NM_005670.4(EPM2A):c.105C>G (p.Arg35=) rs1583156996
NM_005670.4(EPM2A):c.108T>G (p.Gly36=) rs1583156988
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.111C>T (p.Ala37=) rs1425061464
NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup) rs1339413651
NM_005670.4(EPM2A):c.117C>T (p.Arg39=)
NM_005670.4(EPM2A):c.118C>A (p.Leu40Met)
NM_005670.4(EPM2A):c.118C>T (p.Leu40=) rs1583156932
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) rs1170939620
NM_005670.4(EPM2A):c.11G>A (p.Arg4His)
NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu)
NM_005670.4(EPM2A):c.126G>T (p.Pro42=)
NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser)
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.141G>A (p.Ala47=) rs1363081086
NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp)
NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu) rs796052422
NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys) rs2128650105
NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)
NM_005670.4(EPM2A):c.158C>T (p.Ala53Val) rs1776804791
NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)
NM_005670.4(EPM2A):c.159C>A (p.Ala53=)
NM_005670.4(EPM2A):c.159C>T (p.Ala53=)
NM_005670.4(EPM2A):c.159_160delinsGT (p.Ala53_Leu54=) rs2128649621
NM_005670.4(EPM2A):c.162G>A (p.Leu54=) rs1223558074
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro) rs1776803315
NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln) rs796052424
NM_005670.4(EPM2A):c.168G>A (p.Glu56=)
NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr) rs1308438113
NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg) rs1776824378
NM_005670.4(EPM2A):c.171G>A (p.Pro57=) rs531330673
NM_005670.4(EPM2A):c.171G>C (p.Pro57=)
NM_005670.4(EPM2A):c.177G>A (p.Leu59=)
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)
NM_005670.4(EPM2A):c.201G>A (p.Ala67=) rs1583156346
NM_005670.4(EPM2A):c.201G>T (p.Ala67=)
NM_005670.4(EPM2A):c.204C>A (p.Ala68=) rs1200399183
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly) rs1583156284
NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup) rs2128649485
NM_005670.4(EPM2A):c.212C>T (p.Ala71Val) rs1263035227
NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu) rs1165179833
NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro) rs1333556119
NM_005670.4(EPM2A):c.22G>A (p.Val8Met) rs1326700627
NM_005670.4(EPM2A):c.234G>A (p.Pro78=) rs2128649479
NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys) rs374826256
NM_005670.4(EPM2A):c.243G>C (p.Val81=)
NM_005670.4(EPM2A):c.246C>T (p.Asp82=) rs1776792686
NM_005670.4(EPM2A):c.248C>T (p.Thr83Met) rs780634800
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu) rs1362231306
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter) rs750988816
NM_005670.4(EPM2A):c.258C>T (p.Tyr86=)
NM_005670.4(EPM2A):c.267G>A (p.Leu89=)
NM_005670.4(EPM2A):c.270G>A (p.Lys90=)
NM_005670.4(EPM2A):c.275A>G (p.Glu92Gly) rs1776788119
NM_005670.4(EPM2A):c.276G>A (p.Glu92=) rs766208204
NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu) rs2128649334
NM_005670.4(EPM2A):c.291C>T (p.Leu97=)
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)
NM_005670.4(EPM2A):c.301+11C>G rs2128649268
NM_005670.4(EPM2A):c.301+14A>G
NM_005670.4(EPM2A):c.301+16del rs2128649260
NM_005670.4(EPM2A):c.301+20G>A
NM_005670.4(EPM2A):c.301+2T>C
NM_005670.4(EPM2A):c.301+5T>G rs776655093
NM_005670.4(EPM2A):c.302-17A>G rs1286332017
NM_005670.4(EPM2A):c.302-20A>T rs779211684
NM_005670.4(EPM2A):c.302-2A>G rs780648601
NM_005670.4(EPM2A):c.302-4C>T rs1780908908
NM_005670.4(EPM2A):c.302-7G>A rs1780909090
NM_005670.4(EPM2A):c.30A>G (p.Pro10=)
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser) rs1583157330
NM_005670.4(EPM2A):c.333T>C (p.Thr111=) rs1780905564
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
NM_005670.4(EPM2A):c.34G>A (p.Ala12Thr) rs1776822048
NM_005670.4(EPM2A):c.360T>C (p.Gly120=) rs2128614372
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) rs1780901751
NM_005670.4(EPM2A):c.37G>A (p.Val13Met) rs567454946
NM_005670.4(EPM2A):c.37G>C (p.Val13Leu) rs567454946
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser) rs1054138980
NM_005670.4(EPM2A):c.39G>T (p.Val13=)
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala) rs746523076
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
NM_005670.4(EPM2A):c.42C>G (p.Ala14=) rs2128650003
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met) rs2128614175
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp) rs1173939028
NM_005670.4(EPM2A):c.45C>A (p.Gly15=) rs2128649993
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr) rs1199898061
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) rs1554263320
NM_005670.4(EPM2A):c.476+19T>G
NM_005670.4(EPM2A):c.476+5A>G rs1780888090
NM_005670.4(EPM2A):c.477-19C>T
NM_005670.4(EPM2A):c.48C>A (p.Ala16=) rs1776820090
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser)
NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys) rs796052431
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del) rs1583157261
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg) rs1776588357
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
NM_005670.4(EPM2A):c.525T>C (p.His175=) rs2128562729
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro) rs1490039469
NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln) rs1422428137
NM_005670.4(EPM2A):c.546T>C (p.His182=) rs1776583674
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys) rs2128649959
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg) rs1582935082
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) rs1582935082
NM_005670.4(EPM2A):c.564T>G (p.Ala188=) rs1342189516
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser) rs2128562619
NM_005670.4(EPM2A):c.58C>G (p.Leu20Val)
NM_005670.4(EPM2A):c.58C>T (p.Leu20=) rs2128649954
NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln) rs2128649947
NM_005670.4(EPM2A):c.603T>C (p.Asn201=) rs748995485
NM_005670.4(EPM2A):c.61C>T (p.Leu21=) rs2128649940
NM_005670.4(EPM2A):c.634A>G (p.Met212Val) rs1562424241
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile) rs1776570738
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr) rs1554256996
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.4(EPM2A):c.64G>C (p.Val22Leu) rs1776818861
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile) rs2128562483
NM_005670.4(EPM2A):c.65T>A (p.Val22Glu) rs1776818676
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu) rs1060503233
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
NM_005670.4(EPM2A):c.69G>A (p.Val23=)
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln) rs1554256976
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr) rs1776560298
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg) rs1554269710
NM_005670.4(EPM2A):c.714C>G (p.Thr238=) rs762653955
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
NM_005670.4(EPM2A):c.719-15C>T
NM_005670.4(EPM2A):c.719-8del
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly) rs104893950
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg) rs749563452
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) rs1776817138
NM_005670.4(EPM2A):c.758A>G (p.His253Arg) rs749937487
NM_005670.4(EPM2A):c.758A>T (p.His253Leu) rs749937487
NM_005670.4(EPM2A):c.759T>C (p.His253=) rs1775923559
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs) rs1775923311
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro) rs2128556216
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly) rs1351520468
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu) rs796052433
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
NM_005670.4(EPM2A):c.784G>A (p.Val262Met) rs1582913143
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) rs201053542
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser) rs778069029
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser) rs1220880720
NM_005670.4(EPM2A):c.81C>G (p.Pro27=)
NM_005670.4(EPM2A):c.81C>T (p.Pro27=)
NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys) rs1776816199
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) rs137852917
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe) rs367551823
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val) rs2128649886
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro) rs2128649883
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
NM_005670.4(EPM2A):c.876G>T (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.894C>T (p.Ala298=) rs1775904922
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr) rs1050606699
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu) rs796052428
NM_005670.4(EPM2A):c.903G>A (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
NM_005670.4(EPM2A):c.92G>A (p.Arg31His) rs1562535536
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del) rs2128649765
NM_005670.4(EPM2A):c.934dup (p.Arg312fs) rs2128555980
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg) rs104893955
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys) rs772620616
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe) rs1404589826
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_005670.4(EPM2A):c.981T>G (p.Ser327=) rs2128555915
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)
NM_005670.4(EPM2A):c.9C>T (p.Phe3=) rs2128650111

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