ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type I by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 952
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000399.5(EGR2):c.627A>G (p.Pro209=) rs224083 0.01586
NM_000399.5(EGR2):c.169+10G>T rs114201658 0.00953
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000304.4(PMP22):c.179-17G>A rs77406217 0.00621
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) rs146116229 0.00148
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000399.5(EGR2):c.909A>C (p.Ala303=) rs112474655 0.00101
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836 0.00037
NM_000399.5(EGR2):c.534A>G (p.Ala178=) rs370084216 0.00030
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) rs147718043 0.00023
NM_000304.4(PMP22):c.423G>T (p.Val141=) rs144077495 0.00021
NM_000304.4(PMP22):c.268C>G (p.Leu90Val) rs147114400 0.00020
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045 0.00019
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_000399.5(EGR2):c.915C>A (p.Ala305=) rs759462455 0.00015
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820 0.00014
NM_000399.5(EGR2):c.442C>T (p.Pro148Ser) rs147604283 0.00014
NM_000399.5(EGR2):c.137G>T (p.Gly46Val) rs115534601 0.00012
NM_000304.4(PMP22):c.402C>T (p.Phe134=) rs536417866 0.00011
NM_000304.4(PMP22):c.72C>A (p.Ile24=) rs371373574 0.00010
NM_000530.8(MPZ):c.270C>T (p.Asp90=) rs121913584 0.00010
NM_000530.8(MPZ):c.429G>T (p.Thr143=) rs138007992 0.00010
NM_000304.4(PMP22):c.177C>T (p.Asn59=) rs376797385 0.00009
NM_000304.4(PMP22):c.318T>C (p.Ala106=) rs778234032 0.00009
NM_000304.4(PMP22):c.69G>C (p.Thr23=) rs376847762 0.00009
NM_000399.5(EGR2):c.222A>G (p.Pro74=) rs201068734 0.00008
NM_000399.5(EGR2):c.229A>G (p.Ser77Gly) rs554815622 0.00008
NM_000304.4(PMP22):c.88G>A (p.Val30Met) rs377335295 0.00007
NM_000399.5(EGR2):c.1386C>G (p.Gly462=) rs768284273 0.00007
NM_000399.5(EGR2):c.1020C>T (p.Tyr340=) rs554727782 0.00006
NM_000399.5(EGR2):c.669C>A (p.Ile223=) rs766860417 0.00006
NM_000399.5(EGR2):c.840G>C (p.Val280=) rs563282095 0.00006
NM_000399.5(EGR2):c.912C>A (p.Ala304=) rs752399953 0.00006
NM_000530.8(MPZ):c.384C>T (p.Asp128=) rs772611598 0.00006
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933 0.00005
NM_000304.4(PMP22):c.426C>T (p.Ala142=) rs763227987 0.00005
NM_000399.5(EGR2):c.540C>T (p.Asp180=) rs200913249 0.00005
NM_000399.5(EGR2):c.679C>T (p.Pro227Ser) rs794727248 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000304.4(PMP22):c.25A>G (p.Ile9Val) rs138515303 0.00004
NM_000304.4(PMP22):c.342G>A (p.Ala114=) rs201871607 0.00004
NM_000304.4(PMP22):c.381C>T (p.Asn127=) rs369477577 0.00004
NM_000304.4(PMP22):c.383C>T (p.Ser128Leu) rs778731157 0.00004
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586 0.00004
NM_000399.5(EGR2):c.711C>A (p.Asp237Glu) rs1011150442 0.00004
NM_000399.5(EGR2):c.719G>T (p.Gly240Val) rs775326892 0.00004
NM_000399.5(EGR2):c.801A>T (p.Thr267=) rs758589570 0.00004
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr) rs774442561 0.00004
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) rs565355765 0.00004
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173 0.00004
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) rs764402416 0.00004
NM_000304.4(PMP22):c.18G>C (p.Leu6=) rs781550490 0.00003
NM_000304.4(PMP22):c.21T>C (p.Ser7=) rs755300278 0.00003
NM_000304.4(PMP22):c.365C>T (p.Pro122Leu) rs768085434 0.00003
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs745823802 0.00003
NM_000530.8(MPZ):c.234+16A>T rs1352578591 0.00003
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212 0.00003
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys) rs573456055 0.00003
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000304.4(PMP22):c.173C>A (p.Pro58Gln) rs745939923 0.00002
NM_000304.4(PMP22):c.179-13C>G rs756820859 0.00002
NM_000304.4(PMP22):c.234G>A (p.Leu78=) rs745546543 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_000304.4(PMP22):c.477C>T (p.Arg159=) rs778132801 0.00002
NM_000304.4(PMP22):c.96T>C (p.Asn32=) rs1315038358 0.00002
NM_000399.5(EGR2):c.1053C>T (p.Phe351=) rs754645141 0.00002
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337 0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000399.5(EGR2):c.1402C>T (p.Pro468Ser) rs374833463 0.00002
NM_000399.5(EGR2):c.1428T>A (p.Pro476=) rs377518489 0.00002
NM_000399.5(EGR2):c.285G>A (p.Lys95=) rs1050343149 0.00002
NM_000399.5(EGR2):c.561G>A (p.Ala187=) rs144739493 0.00002
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094 0.00002
NM_000399.5(EGR2):c.921C>T (p.Ala307=) rs751393520 0.00002
NM_000530.8(MPZ):c.449-9C>T rs750530042 0.00002
NM_000530.8(MPZ):c.529T>A (p.Tyr177Asn) rs758417016 0.00002
NM_000530.8(MPZ):c.543C>T (p.Tyr181=) rs140671661 0.00002
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00002
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825 0.00002
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729 0.00002
NM_000304.4(PMP22):c.100C>T (p.His34Tyr) rs756458019 0.00001
NM_000304.4(PMP22):c.102C>T (p.His34=) rs779654897 0.00001
NM_000304.4(PMP22):c.103G>A (p.Ala35Thr) rs750000952 0.00001
NM_000304.4(PMP22):c.130A>T (p.Thr44Ser) rs112651887 0.00001
NM_000304.4(PMP22):c.134C>T (p.Ser45Phe) rs1259742235 0.00001
NM_000304.4(PMP22):c.206T>C (p.Met69Thr) rs104894620 0.00001
NM_000304.4(PMP22):c.216G>A (p.Ser72=) rs774493881 0.00001
NM_000304.4(PMP22):c.241T>C (p.Phe81Leu) rs748551014 0.00001
NM_000304.4(PMP22):c.246G>A (p.Leu82=) rs779700333 0.00001
NM_000304.4(PMP22):c.301A>C (p.Ile101Leu) rs1461201721 0.00001
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028 0.00001
NM_000304.4(PMP22):c.328G>A (p.Val110Met) rs1044810473 0.00001
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) rs140763467 0.00001
NM_000304.4(PMP22):c.409A>G (p.Ile137Val) rs755551524 0.00001
NM_000304.4(PMP22):c.447C>T (p.Ser149=) rs775019409 0.00001
NM_000304.4(PMP22):c.454A>G (p.Ile152Val) rs1398185771 0.00001
NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys) rs761138676 0.00001
NM_000304.4(PMP22):c.471G>A (p.Arg157=) rs770693814 0.00001
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) rs749165928 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_000304.4(PMP22):c.78+10T>C rs1197403748 0.00001
NM_000304.4(PMP22):c.84G>C (p.Trp28Cys) rs1442525908 0.00001
NM_000304.4(PMP22):c.98G>A (p.Gly33Glu) rs754175558 0.00001
NM_000399.5(EGR2):c.1081A>G (p.Ile361Val) rs147417827 0.00001
NM_000399.5(EGR2):c.1149C>T (p.Asp383=) rs762387092 0.00001
NM_000399.5(EGR2):c.1179C>T (p.Thr393=) rs965148587 0.00001
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) rs554456422 0.00001
NM_000399.5(EGR2):c.125C>A (p.Ala42Asp) rs969576126 0.00001
NM_000399.5(EGR2):c.1277G>A (p.Arg426Gln) rs780825035 0.00001
NM_000399.5(EGR2):c.1284C>A (p.Ser428Arg) rs754485850 0.00001
NM_000399.5(EGR2):c.139C>G (p.Pro47Ala) rs778369129 0.00001
NM_000399.5(EGR2):c.1420C>T (p.Arg474Trp) rs757007626 0.00001
NM_000399.5(EGR2):c.163G>T (p.Ala55Ser) rs1411975971 0.00001
NM_000399.5(EGR2):c.165C>G (p.Ala55=) rs151290032 0.00001
NM_000399.5(EGR2):c.170-4C>G rs1221455836 0.00001
NM_000399.5(EGR2):c.214G>A (p.Asp72Asn) rs1362876954 0.00001
NM_000399.5(EGR2):c.223T>C (p.Tyr75His) rs745451966 0.00001
NM_000399.5(EGR2):c.267C>T (p.Thr89=) rs747877927 0.00001
NM_000399.5(EGR2):c.369G>A (p.Gly123=) rs1458338517 0.00001
NM_000399.5(EGR2):c.460A>G (p.Met154Val) rs757301326 0.00001
NM_000399.5(EGR2):c.507G>A (p.Pro169=) rs1060504688 0.00001
NM_000399.5(EGR2):c.560C>T (p.Ala187Val) rs372491511 0.00001
NM_000399.5(EGR2):c.567G>A (p.Leu189=) rs1461306330 0.00001
NM_000399.5(EGR2):c.581C>T (p.Thr194Ile) rs1269313182 0.00001
NM_000399.5(EGR2):c.608C>T (p.Pro203Leu) rs1055082588 0.00001
NM_000399.5(EGR2):c.625C>A (p.Pro209Thr) rs749421476 0.00001
NM_000399.5(EGR2):c.670C>A (p.Pro224Thr) rs758869303 0.00001
NM_000399.5(EGR2):c.716A>G (p.His239Arg) rs760456822 0.00001
NM_000399.5(EGR2):c.71A>G (p.Asn24Ser) rs985016283 0.00001
NM_000399.5(EGR2):c.735C>T (p.Asp245=) rs1275161182 0.00001
NM_000399.5(EGR2):c.736C>T (p.Arg246Cys) rs774391305 0.00001
NM_000399.5(EGR2):c.74T>A (p.Ile25Asn) rs763131472 0.00001
NM_000399.5(EGR2):c.769C>A (p.Arg257=) rs368282744 0.00001
NM_000399.5(EGR2):c.774G>A (p.Val258=) rs758709729 0.00001
NM_000399.5(EGR2):c.777C>G (p.Pro259=) rs750955966 0.00001
NM_000399.5(EGR2):c.789T>C (p.Thr263=) rs765678040 0.00001
NM_000399.5(EGR2):c.807T>C (p.Arg269=) rs1367488546 0.00001
NM_000399.5(EGR2):c.877C>T (p.Arg293Trp) rs371616981 0.00001
NM_000399.5(EGR2):c.88G>A (p.Asp30Asn) rs371222708 0.00001
NM_000399.5(EGR2):c.907G>C (p.Ala303Pro) rs1456482795 0.00001
NM_000399.5(EGR2):c.922G>A (p.Ala308Thr) rs766458625 0.00001
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093 0.00001
NM_000399.5(EGR2):c.96C>T (p.Ala32=) rs769285458 0.00001
NM_000399.5(EGR2):c.9C>T (p.Thr3=) rs1554853482 0.00001
NM_000530.8(MPZ):c.102C>T (p.Thr34=) rs749600926 0.00001
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596 0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000530.8(MPZ):c.116A>G (p.His39Arg) rs371856018 0.00001
NM_000530.8(MPZ):c.162C>A (p.Ser54=) rs373911573 0.00001
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser) rs765575997 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544 0.00001
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp) rs749459367 0.00001
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr) rs540599381 0.00001
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser) rs777338757 0.00001
NM_000530.8(MPZ):c.275T>A (p.Val92Glu) rs1352220911 0.00001
NM_000530.8(MPZ):c.279G>A (p.Gly93=) rs778303597 0.00001
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.297C>A (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.297C>T (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609 0.00001
NM_000530.8(MPZ):c.354C>T (p.Asp118=) rs780896055 0.00001
NM_000530.8(MPZ):c.372G>A (p.Thr124=) rs536830537 0.00001
NM_000530.8(MPZ):c.37A>G (p.Ile13Val) rs145285010 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109 0.00001
NM_000530.8(MPZ):c.449-10C>T rs200559887 0.00001
NM_000530.8(MPZ):c.483G>C (p.Val161=) rs769244921 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.505G>T (p.Val169Leu) rs776316386 0.00001
NM_000530.8(MPZ):c.532G>C (p.Val178Leu) rs1238706311 0.00001
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) rs372051998 0.00001
NM_000530.8(MPZ):c.585-12C>G rs375616364 0.00001
NM_000530.8(MPZ):c.585-5T>C rs1026836999 0.00001
NM_000530.8(MPZ):c.645+12T>C rs750848798 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000530.8(MPZ):c.646-7C>T rs377495735 0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NM_000530.8(MPZ):c.663A>G (p.Ala221=) rs1404344759 0.00001
NM_000530.8(MPZ):c.67+10G>A rs1252695545 0.00001
NM_000530.8(MPZ):c.683G>A (p.Ser228Asn) rs773002116 0.00001
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr) rs1471261466 0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417 0.00001
NM_000530.8(MPZ):c.78G>C (p.Pro26=) rs777790314 0.00001
NC_000001.10:g.(?_161275666)_(161279695_?)del
NC_000001.10:g.(?_161279609)_(161751809_?)dup
NC_000001.11:g.(?_161305674)_(161307434_?)del
NC_000001.11:g.(?_161305674)_(161309915_?)dup
NC_000010.10:g.(?_64572967)_(64575789_?)dup
NC_000010.10:g.(?_64572967)_(65225422_?)del
NC_000017.10:g.(?_14139889)_(15142928_?)del
NC_000017.10:g.(?_14139889)_(15406546_?)dup
NC_000017.10:g.(?_15132094)_(15169674_?)dup
NC_000017.10:g.(?_15133084)_(15134407_?)del
NC_000017.10:g.(?_15133084)_(15164054_?)del
NC_000017.10:g.(?_15133084)_(15164054_?)dup
NC_000017.10:g.(?_15133096)_(15165152_?)dup
NC_000017.10:g.(?_15133097)_(15164054_?)del
NC_000017.10:g.(?_15133097)_(15164054_?)dup
NC_000017.10:g.(?_15134214)_(15162530_?)dup
NC_000017.10:g.(?_15134214)_(15164064_?)del
NC_000017.10:g.(?_15134214)_(15164064_?)dup
NC_000017.10:g.(?_15134228)_(15164050_?)dup
NC_000017.10:g.(?_15134234)_(15164044_?)del
NC_000017.10:g.(?_15134234)_(15164044_?)dup
NC_000017.10:g.(?_15142768)_(15142948_?)dup
NC_000017.10:g.(?_15142768)_(15164064_?)dup
NC_000017.10:g.(?_15142778)_(15142938_?)del
NC_000017.10:g.(?_15142778)_(15164054_?)dup
NC_000017.10:g.(?_15162391)_(15164044_?)del
NC_000017.10:g.(?_15162401)_(15162520_?)del
NC_000017.10:g.(?_15162401)_(15162523_?)del
NC_000017.10:g.(?_15162411)_(15406546_?)dup
NC_000017.11:g.(?_15229767)_(15239621_?)del
NC_000017.11:g.(?_15239451)_(15239631_?)del
NC_000017.11:g.(?_15239461)_(15260737_?)del
NC_000017.11:g.(?_15259084)_(15260737_?)del
NM_000304.2(PMP22):c.(?_-1)_(*1_?)del
NM_000304.2(PMP22):c.(?_-1)_(*1_?)dup
NM_000304.3(PMP22):c.-34-?_*1140del
NM_000304.3(PMP22):c.-34-?_*1140dup1657
NM_000304.4(PMP22):c.109G>A (p.Asp37Asn)
NM_000304.4(PMP22):c.113T>C (p.Leu38Pro) rs1234608261
NM_000304.4(PMP22):c.117del (p.Trp39fs) rs1482355069
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.125G>A (p.Cys42Tyr)
NM_000304.4(PMP22):c.138C>A (p.Ser46=)
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.139del (p.Ser47fs)
NM_000304.4(PMP22):c.153C>T (p.His51=)
NM_000304.4(PMP22):c.160_178+78delinsGGAC
NM_000304.4(PMP22):c.172C>T (p.Pro58Ser) rs772242644
NM_000304.4(PMP22):c.178+7C>G
NM_000304.4(PMP22):c.178G>A (p.Glu60Lys)
NM_000304.4(PMP22):c.179-15G>C
NM_000304.4(PMP22):c.179-17G>C
NM_000304.4(PMP22):c.179-20C>G rs1907138508
NM_000304.4(PMP22):c.179-3C>G rs1284105482
NM_000304.4(PMP22):c.180A>G (p.Glu60=) rs1223037928
NM_000304.4(PMP22):c.181del (p.Trp61fs) rs2150676904
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) rs1597608203
NM_000304.4(PMP22):c.189G>A (p.Gln63=)
NM_000304.4(PMP22):c.191C>T (p.Ser64Phe) rs1311837830
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.203C>T (p.Thr68Ile) rs2150676849
NM_000304.4(PMP22):c.206T>A (p.Met69Lys) rs104894620
NM_000304.4(PMP22):c.212T>A (p.Leu71Gln)
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) rs1597608086
NM_000304.4(PMP22):c.215C>A (p.Ser72Ter) rs104894621
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) rs104894621
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.219_223dup (p.Phe75fs)
NM_000304.4(PMP22):c.227del (p.Ser76fs) rs1597608057
NM_000304.4(PMP22):c.229A>G (p.Ile77Val)
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) rs863225027
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.236C>T (p.Ser79Phe) rs104894618
NM_000304.4(PMP22):c.23T>A (p.Ile8Asn)
NM_000304.4(PMP22):c.244dup (p.Leu82fs)
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.261_262del (p.Phe88fs) rs1567704791
NM_000304.4(PMP22):c.267C>T (p.Thr89=)
NM_000304.4(PMP22):c.273C>T (p.Thr91=)
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) rs778693173
NM_000304.4(PMP22):c.277G>T (p.Gly93Trp)
NM_000304.4(PMP22):c.278G>C (p.Gly93Ala)
NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs) rs864622678
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.292A>G (p.Ile98Val) rs748778392
NM_000304.4(PMP22):c.296C>T (p.Thr99Ile)
NM_000304.4(PMP22):c.299G>T (p.Gly100Val) rs1597607638
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.316G>A (p.Ala106Thr)
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp) rs1597607537
NM_000304.4(PMP22):c.318del (p.Gly107fs) rs1597607532
NM_000304.4(PMP22):c.319+11G>A
NM_000304.4(PMP22):c.319+1G>A rs1597607514
NM_000304.4(PMP22):c.319+1G>T rs1597607514
NM_000304.4(PMP22):c.319G>C (p.Gly107Arg) rs1362042435
NM_000304.4(PMP22):c.320-18G>A
NM_000304.4(PMP22):c.320-4C>G rs377467465
NM_000304.4(PMP22):c.320G>T (p.Gly107Val) rs1597597900
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.32T>G (p.Leu11Arg) rs1567719334
NM_000304.4(PMP22):c.330G>C (p.Val110=)
NM_000304.4(PMP22):c.335del (p.Ser112fs) rs1906294453
NM_000304.4(PMP22):c.338C>T (p.Ala113Val) rs774831750
NM_000304.4(PMP22):c.345C>T (p.Ala115=)
NM_000304.4(PMP22):c.350A>G (p.Tyr117Cys)
NM_000304.4(PMP22):c.351C>A (p.Tyr117Ter) rs1906290133
NM_000304.4(PMP22):c.351C>T (p.Tyr117=) rs1906290133
NM_000304.4(PMP22):c.354G>A (p.Thr118=)
NM_000304.4(PMP22):c.35A>G (p.His12Arg) rs1909248652
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.369G>A (p.Glu123=)
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.36C>G (p.His12Gln)
NM_000304.4(PMP22):c.36C>T (p.His12=) rs104894622
NM_000304.4(PMP22):c.370T>C (p.Trp124Arg)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_000304.4(PMP22):c.374A>G (p.His125Arg) rs2150664758
NM_000304.4(PMP22):c.376C>G (p.Leu126Val)
NM_000304.4(PMP22):c.380A>G (p.Asn127Ser) rs1345860559
NM_000304.4(PMP22):c.387T>C (p.Asp129=) rs1597597640
NM_000304.4(PMP22):c.38T>C (p.Val13Ala) rs1909248074
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.393C>T (p.Ser131=)
NM_000304.4(PMP22):c.396del (p.Ser131_Tyr132insTer)
NM_000304.4(PMP22):c.413T>C (p.Leu138Pro)
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) rs1597597534
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) rs1597597527
NM_000304.4(PMP22):c.421G>A (p.Val141Met)
NM_000304.4(PMP22):c.42G>C (p.Ala14=) rs1555568786
NM_000304.4(PMP22):c.42G>T (p.Ala14=) rs1555568786
NM_000304.4(PMP22):c.434T>G (p.Leu145Arg) rs1906263385
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.435G>A (p.Leu145=) rs1906262905
NM_000304.4(PMP22):c.438C>T (p.Ala146=)
NM_000304.4(PMP22):c.43GTGCTG[3] (p.Leu18_Leu19insValLeu)
NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)
NM_000304.4(PMP22):c.448G>C (p.Gly150Arg) rs104894624
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.476G>A (p.Arg159His) rs773478255
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.480A>G (p.Glu160=)
NM_000304.4(PMP22):c.481T>C (p.Ter161Arg) rs2150664495
NM_000304.4(PMP22):c.52CTG[1] (p.Leu19del) rs2150710120
NM_000304.4(PMP22):c.52_56delinsGCGATCGTG (p.Leu18fs) rs1909244614
NM_000304.4(PMP22):c.64T>C (p.Ser22Pro)
NM_000304.4(PMP22):c.68C>A (p.Thr23Lys) rs906563423
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.68C>T (p.Thr23Met)
NM_000304.4(PMP22):c.69G>A (p.Thr23=) rs376847762
NM_000304.4(PMP22):c.72C>G (p.Ile24Met) rs371373574
NM_000304.4(PMP22):c.78+16G>A
NM_000304.4(PMP22):c.78+1G>A rs1426969421
NM_000304.4(PMP22):c.78+1G>C rs1426969421
NM_000304.4(PMP22):c.78+2T>C
NM_000304.4(PMP22):c.78+2del
NM_000304.4(PMP22):c.78+5G>C rs1174594975
NM_000304.4(PMP22):c.78+7G>A
NM_000304.4(PMP22):c.78+9C>T rs1428777013
NM_000304.4(PMP22):c.79-14C>G
NM_000304.4(PMP22):c.79-16A>C rs373417110
NM_000304.4(PMP22):c.79-16A>G rs373417110
NM_000304.4(PMP22):c.79-4C>A
NM_000304.4(PMP22):c.79-4C>G
NM_000304.4(PMP22):c.79-8C>T rs1597633194
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000304.4(PMP22):c.83G>A (p.Trp28Ter) rs1555568475
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) rs1442525908
NM_000399.5(EGR2):c.1009G>C (p.Glu337Gln) rs2132703249
NM_000399.5(EGR2):c.1021C>T (p.Pro341Ser)
NM_000399.5(EGR2):c.1022C>G (p.Pro341Arg)
NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu) rs1131691827
NM_000399.5(EGR2):c.1041C>T (p.Cys347=)
NM_000399.5(EGR2):c.1044C>T (p.Asp348=) rs2132703130
NM_000399.5(EGR2):c.1047G>T (p.Arg349=) rs2132703104
NM_000399.5(EGR2):c.1050G>C (p.Arg350=) rs781058000
NM_000399.5(EGR2):c.1050G>T (p.Arg350=)
NM_000399.5(EGR2):c.1065C>A (p.Asp355Glu) rs1589080604
NM_000399.5(EGR2):c.1065C>G (p.Asp355Glu) rs1589080604
NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys) rs751448371
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln) rs751448371
NM_000399.5(EGR2):c.1072A>T (p.Thr358Ser)
NM_000399.5(EGR2):c.1075C>G (p.Arg359Gly) rs104894161
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1077G>C (p.Arg359=) rs2132702888
NM_000399.5(EGR2):c.1080C>T (p.His360=) rs766297007
NM_000399.5(EGR2):c.1090C>T (p.His364Tyr) rs1842170880
NM_000399.5(EGR2):c.1090_1092dup (p.His364dup) rs1842170750
NM_000399.5(EGR2):c.10G>T (p.Ala4Ser) rs1283821248
NM_000399.5(EGR2):c.1106C>G (p.Pro369Arg)
NM_000399.5(EGR2):c.1118G>A (p.Arg373Gln) rs1564706128
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu) rs281865137
NM_000399.5(EGR2):c.115T>C (p.Phe39Leu) rs369477396
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1160C>T (p.Thr387Ile)
NM_000399.5(EGR2):c.1170C>T (p.Arg390=)
NM_000399.5(EGR2):c.1172C>A (p.Thr391Asn) rs1564706036
NM_000399.5(EGR2):c.1178C>G (p.Thr393Ser)
NM_000399.5(EGR2):c.1191C>T (p.Pro397=) rs2132702386
NM_000399.5(EGR2):c.1195G>T (p.Ala399Ser)
NM_000399.5(EGR2):c.1198T>A (p.Cys400Ser) rs1842165409
NM_000399.5(EGR2):c.1199G>C (p.Cys400Ser) rs1564705972
NM_000399.5(EGR2):c.1203C>G (p.Asp401Glu)
NM_000399.5(EGR2):c.1206C>T (p.Tyr402=) rs1554853017
NM_000399.5(EGR2):c.1207T>G (p.Cys403Gly) rs1554853016
NM_000399.5(EGR2):c.1208G>A (p.Cys403Tyr) rs2132702286
NM_000399.5(EGR2):c.1214G>A (p.Arg405Gln)
NM_000399.5(EGR2):c.1214G>T (p.Arg405Leu) rs1842164540
NM_000399.5(EGR2):c.1222G>T (p.Ala408Ser) rs1842164368
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000399.5(EGR2):c.122A>G (p.Asn41Ser)
NM_000399.5(EGR2):c.1231G>A (p.Asp411Asn) rs1842163821
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys) rs121434563
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) rs749558026
NM_000399.5(EGR2):c.1243C>G (p.Arg415Gly) rs1842163429
NM_000399.5(EGR2):c.1243C>T (p.Arg415Cys) rs1842163429
NM_000399.5(EGR2):c.1248C>T (p.His416=) rs1589080344
NM_000399.5(EGR2):c.1260C>G (p.His420Gln) rs1842162935
NM_000399.5(EGR2):c.1268A>G (p.Gln423Arg) rs1842162762
NM_000399.5(EGR2):c.126C>G (p.Ala42=) rs1554853456
NM_000399.5(EGR2):c.1271_1274del (p.Lys424fs)
NM_000399.5(EGR2):c.1274_1275del (p.Glu425fs) rs1589080330
NM_000399.5(EGR2):c.1286G>A (p.Ser429Asn) rs1842161787
NM_000399.5(EGR2):c.129A>G (p.Glu43=) rs1023788893
NM_000399.5(EGR2):c.1302G>T (p.Ser434=)
NM_000399.5(EGR2):c.130C>T (p.Leu44=) rs2132712516
NM_000399.5(EGR2):c.1314del (p.Ser439fs) rs1842160144
NM_000399.5(EGR2):c.1316C>T (p.Ser439Phe)
NM_000399.5(EGR2):c.1319C>T (p.Thr440Ile) rs2132701816
NM_000399.5(EGR2):c.1320A>T (p.Thr440=) rs1842159546
NM_000399.5(EGR2):c.1323C>T (p.Ala441=)
NM_000399.5(EGR2):c.1326C>T (p.Ser442=)
NM_000399.5(EGR2):c.1328G>A (p.Cys443Tyr)
NM_000399.5(EGR2):c.1339G>T (p.Val447Leu) rs759547856
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) rs138967272
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1353T>G (p.Gly451=)
NM_000399.5(EGR2):c.1357C>T (p.Leu453=)
NM_000399.5(EGR2):c.1366A>T (p.Ser456Cys)
NM_000399.5(EGR2):c.1379G>A (p.Ser460Asn)
NM_000399.5(EGR2):c.1379del (p.Ser460fs) rs1842157243
NM_000399.5(EGR2):c.1386C>T (p.Gly462=) rs768284273
NM_000399.5(EGR2):c.1391G>T (p.Gly464Val) rs878855324
NM_000399.5(EGR2):c.1398C>T (p.Leu466=)
NM_000399.5(EGR2):c.1399G>A (p.Ala467Thr) rs146116229
NM_000399.5(EGR2):c.139C>T (p.Pro47Ser) rs778369129
NM_000399.5(EGR2):c.1408T>G (p.Ser470Ala)
NM_000399.5(EGR2):c.1414C>A (p.Arg472=)
NM_000399.5(EGR2):c.1414C>G (p.Arg472Gly) rs1353824847
NM_000399.5(EGR2):c.1421G>A (p.Arg474Gln)
NM_000399.5(EGR2):c.1425A>C (p.Thr475=)
NM_000399.5(EGR2):c.1430G>C (p.Ter477Ser)
NM_000399.5(EGR2):c.151A>G (p.Met51Val) rs1842254660
NM_000399.5(EGR2):c.154A>C (p.Asn52His) rs1842254352
NM_000399.5(EGR2):c.157G>T (p.Gly53Ter)
NM_000399.5(EGR2):c.15G>T (p.Lys5Asn)
NM_000399.5(EGR2):c.166G>A (p.Gly56Arg) rs377204675
NM_000399.5(EGR2):c.169+13T>A rs1479396729
NM_000399.5(EGR2):c.169+19C>T
NM_000399.5(EGR2):c.170-10C>T rs755853466
NM_000399.5(EGR2):c.170-11C>G
NM_000399.5(EGR2):c.170-14T>C
NM_000399.5(EGR2):c.170-19C>A
NM_000399.5(EGR2):c.170-8C>T
NM_000399.5(EGR2):c.171T>C (p.Asp57=)
NM_000399.5(EGR2):c.182A>G (p.Asn61Ser)
NM_000399.5(EGR2):c.184A>G (p.Ile62Val)
NM_000399.5(EGR2):c.18C>T (p.Ala6=) rs1225211720
NM_000399.5(EGR2):c.190A>G (p.Met64Val) rs1035411608
NM_000399.5(EGR2):c.193A>G (p.Thr65Ala)
NM_000399.5(EGR2):c.198A>C (p.Gly66=) rs201770282
NM_000399.5(EGR2):c.200AGA[3] (p.Lys68dup) rs1245170375
NM_000399.5(EGR2):c.202A>C (p.Lys68Gln) rs1042629449
NM_000399.5(EGR2):c.206G>A (p.Arg69Lys) rs776869045
NM_000399.5(EGR2):c.210G>A (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.210G>C (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.217C>A (p.Leu73Ile) rs2132707494
NM_000399.5(EGR2):c.221C>T (p.Pro74Leu)
NM_000399.5(EGR2):c.22G>C (p.Asp8His) rs2132712977
NM_000399.5(EGR2):c.235T>A (p.Phe79Ile) rs1842209779
NM_000399.5(EGR2):c.238G>C (p.Ala80Pro) rs1158907439
NM_000399.5(EGR2):c.278T>G (p.Met93Arg) rs200488421
NM_000399.5(EGR2):c.292A>G (p.Ile98Val)
NM_000399.5(EGR2):c.293T>C (p.Ile98Thr) rs1589081791
NM_000399.5(EGR2):c.311G>A (p.Gly104Asp)
NM_000399.5(EGR2):c.339C>A (p.Ile113=) rs1842207132
NM_000399.5(EGR2):c.356G>C (p.Gly119Ala)
NM_000399.5(EGR2):c.364C>T (p.Gln122Ter) rs1842206449
NM_000399.5(EGR2):c.379C>G (p.Pro127Ala) rs1842205838
NM_000399.5(EGR2):c.382_387del (p.Ala128_Ser129del) rs780288079
NM_000399.5(EGR2):c.384T>A (p.Ala128=)
NM_000399.5(EGR2):c.388A>G (p.Thr130Ala) rs1564707625
NM_000399.5(EGR2):c.398C>T (p.Ser133Leu)
NM_000399.5(EGR2):c.410C>A (p.Thr137Asn) rs1017236982
NM_000399.5(EGR2):c.415G>T (p.Ala139Ser) rs2132706614
NM_000399.5(EGR2):c.417C>T (p.Ala139=) rs1842204239
NM_000399.5(EGR2):c.426C>T (p.Asn142=)
NM_000399.5(EGR2):c.428C>A (p.Pro143Gln) rs1327438695
NM_000399.5(EGR2):c.430C>T (p.Leu144=)
NM_000399.5(EGR2):c.443C>A (p.Pro148His)
NM_000399.5(EGR2):c.451G>A (p.Val151Met) rs1842202676
NM_000399.5(EGR2):c.458C>A (p.Thr153Asn) rs1414598345
NM_000399.5(EGR2):c.458C>T (p.Thr153Ile) rs1414598345
NM_000399.5(EGR2):c.469A>T (p.Thr157Ser)
NM_000399.5(EGR2):c.46G>A (p.Gly16Ser) rs2132712905
NM_000399.5(EGR2):c.475C>A (p.Pro159Thr)
NM_000399.5(EGR2):c.480C>T (p.Asp160=) rs1842201460
NM_000399.5(EGR2):c.500C>T (p.Pro167Leu) rs1842200895
NM_000399.5(EGR2):c.501G>A (p.Pro167=)
NM_000399.5(EGR2):c.504del (p.Pro169fs)
NM_000399.5(EGR2):c.506C>T (p.Pro169Leu)
NM_000399.5(EGR2):c.508CCT[3] (p.Pro173del)
NM_000399.5(EGR2):c.508CCT[5] (p.Pro173dup) rs756443238
NM_000399.5(EGR2):c.518_520del (p.Pro173_Tyr174delinsHis)
NM_000399.5(EGR2):c.535G>A (p.Gly179Arg)
NM_000399.5(EGR2):c.53T>G (p.Val18Gly) rs1842258303
NM_000399.5(EGR2):c.551A>G (p.Asp184Gly) rs1589081367
NM_000399.5(EGR2):c.560C>A (p.Ala187Glu) rs372491511
NM_000399.5(EGR2):c.564C>T (p.Phe188=) rs776212792
NM_000399.5(EGR2):c.594_596dup (p.Ser199dup) rs750792592
NM_000399.5(EGR2):c.601G>T (p.Ala201Ser) rs1697158798
NM_000399.5(EGR2):c.614C>T (p.Pro205Leu) rs2132705403
NM_000399.5(EGR2):c.630C>T (p.Ser210=)
NM_000399.5(EGR2):c.645G>A (p.Thr215=) rs781408172
NM_000399.5(EGR2):c.645G>C (p.Thr215=)
NM_000399.5(EGR2):c.65C>G (p.Ser22Cys)
NM_000399.5(EGR2):c.676T>A (p.Tyr226Asn)
NM_000399.5(EGR2):c.684A>T (p.Gly228=) rs1021225769
NM_000399.5(EGR2):c.712C>T (p.Leu238=)
NM_000399.5(EGR2):c.718G>A (p.Gly240Ser) rs1842190634
NM_000399.5(EGR2):c.719G>A (p.Gly240Asp)
NM_000399.5(EGR2):c.721A>G (p.Thr241Ala) rs1842190431
NM_000399.5(EGR2):c.723A>C (p.Thr241=)
NM_000399.5(EGR2):c.737G>A (p.Arg246His) rs1060502676
NM_000399.5(EGR2):c.73A>G (p.Ile25Val) rs1178718119
NM_000399.5(EGR2):c.74T>C (p.Ile25Thr) rs763131472
NM_000399.5(EGR2):c.762C>T (p.Asp254=)
NM_000399.5(EGR2):c.765C>T (p.Thr255=)
NM_000399.5(EGR2):c.766C>T (p.Leu256=)
NM_000399.5(EGR2):c.769C>T (p.Arg257Trp) rs368282744
NM_000399.5(EGR2):c.770G>A (p.Arg257Gln) rs780441708
NM_000399.5(EGR2):c.779C>A (p.Pro260His) rs1842187873
NM_000399.5(EGR2):c.77A>G (p.Tyr26Cys)
NM_000399.5(EGR2):c.780T>A (p.Pro260=) rs1465091838
NM_000399.5(EGR2):c.791C>T (p.Pro264Leu) rs1842187600
NM_000399.5(EGR2):c.79C>T (p.Pro27Ser)
NM_000399.5(EGR2):c.805C>T (p.Arg269Cys) rs1842186521
NM_000399.5(EGR2):c.808A>G (p.Asn270Asp)
NM_000399.5(EGR2):c.815C>T (p.Thr272Ile) rs774959041
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.818T>C (p.Leu273Pro)
NM_000399.5(EGR2):c.830G>A (p.Ser277Asn) rs761862879
NM_000399.5(EGR2):c.843C>G (p.Thr281=)
NM_000399.5(EGR2):c.843C>T (p.Thr281=) rs375890313
NM_000399.5(EGR2):c.844G>A (p.Gly282Arg)
NM_000399.5(EGR2):c.867C>T (p.Ser289=)
NM_000399.5(EGR2):c.868G>A (p.Glu290Lys) rs1842182998
NM_000399.5(EGR2):c.874C>T (p.Pro292Ser)
NM_000399.5(EGR2):c.875C>T (p.Pro292Leu)
NM_000399.5(EGR2):c.878G>A (p.Arg293Gln) rs2132703986
NM_000399.5(EGR2):c.879G>C (p.Arg293=)
NM_000399.5(EGR2):c.882G>C (p.Leu294=)
NM_000399.5(EGR2):c.897AGC[3] (p.Ala308_Ala309del)
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup) rs746688326
NM_000399.5(EGR2):c.910GCC[3] (p.Ala307_Ala309del) rs753747037
NM_000399.5(EGR2):c.910GCC[4] (p.Ala308_Ala309del)
NM_000399.5(EGR2):c.910GCC[5] (p.Ala309del) rs753747037
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup) rs753747037
NM_000399.5(EGR2):c.911C>T (p.Ala304Val) rs1440557742
NM_000399.5(EGR2):c.912C>T (p.Ala304=)
NM_000399.5(EGR2):c.913G>A (p.Ala305Thr)
NM_000399.5(EGR2):c.916G>A (p.Ala306Thr) rs1589080827
NM_000399.5(EGR2):c.91C>G (p.Leu31Val) rs535186925
NM_000399.5(EGR2):c.91C>T (p.Leu31Phe) rs535186925
NM_000399.5(EGR2):c.925G>C (p.Ala309Pro)
NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys)
NM_000399.5(EGR2):c.943C>T (p.Leu315=)
NM_000399.5(EGR2):c.947C>T (p.Pro316Leu) rs1589080747
NM_000399.5(EGR2):c.953G>C (p.Arg318Pro) rs775751575
NM_000399.5(EGR2):c.957C>T (p.Pro319=) rs772281054
NM_000399.5(EGR2):c.958A>G (p.Ile320Val) rs2132703451
NM_000399.5(EGR2):c.978C>T (p.Tyr326=)
NM_000399.5(EGR2):c.983A>G (p.Asn328Ser)
NM_000399.5(EGR2):c.98C>T (p.Ala33Val)
NM_000399.5(EGR2):c.990C>G (p.Pro330=)
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser) rs1571820317
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu)
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys) rs1670288965
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser) rs1670288915
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys) rs1670288858
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp) rs1558155851
NM_000530.8(MPZ):c.113T>A (p.Val38Asp) rs1670288801
NM_000530.8(MPZ):c.114C>G (p.Val38=) rs1571820275
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala)
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln) rs760227243
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.136G>C (p.Val46Leu) rs1571820190
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser)
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile)
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) rs1180998665
NM_000530.8(MPZ):c.142C>T (p.Leu48=)
NM_000530.8(MPZ):c.145C>A (p.His49Asn)
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr)
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.154T>G (p.Phe52Val) rs1558154644
NM_000530.8(MPZ):c.156C>G (p.Phe52Leu) rs2102260015
NM_000530.8(MPZ):c.159G>A (p.Trp53Ter) rs1571820100
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys) rs1571820100
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys)
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala) rs1553259785
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.168G>A (p.Glu56=) rs757135674
NM_000530.8(MPZ):c.171G>A (p.Trp57Ter) rs2102259979
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.182A>T (p.Asp61Val)
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.18C>T (p.Pro6=)
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) rs1571819964
NM_000530.8(MPZ):c.195C>G (p.Thr65=)
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg) rs1060503421
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly)
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) rs201720099
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.201C>T (p.Arg67=) rs1571819920
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) rs1571819906
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) rs1571819890
NM_000530.8(MPZ):c.209C>A (p.Pro70His)
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter) rs1558155838
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) rs573007540
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp) rs1060503422
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala)
NM_000530.8(MPZ):c.215G>T (p.Gly72Val) rs773724920
NM_000530.8(MPZ):c.216G>A (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.216G>C (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.217G>T (p.Gly73Cys) rs1670283272
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro) rs2102259765
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.234+12G>A
NM_000530.8(MPZ):c.234+13G>A
NM_000530.8(MPZ):c.234+14G>A
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.234G>T (p.Ser78=)
NM_000530.8(MPZ):c.235-1G>T rs1571819375
NM_000530.8(MPZ):c.235-2A>G
NM_000530.8(MPZ):c.235A>G (p.Ile79Val)
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.243C>T (p.His81=) rs1571819354
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) rs1553259707
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu)
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro) rs1670269181
NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter)
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser) rs1553259700
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys) rs1553259700
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn) rs1558154208
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn)
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.277G>C (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.278G>T (p.Gly93Val) rs1060503418
NM_000530.8(MPZ):c.282C>T (p.Thr94=)
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu) rs2102259152
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys) rs1558154149
NM_000530.8(MPZ):c.304_305insC (p.Val102fs)
NM_000530.8(MPZ):c.305T>A (p.Val102Glu) rs2102259119
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del) rs1060503419
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.309G>T (p.Gly103=) rs1131691852
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn) rs777378929
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr) rs777378929
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly) rs1670265880
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser) rs121913609
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) rs1571819084
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg)
NM_000530.8(MPZ):c.323del (p.Lys108fs) rs2102259042
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.325G>C (p.Asp109His) rs1060503420
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly) rs1670264965
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) rs1468741050
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) rs1553259664
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr) rs1553259663
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.333C>T (p.Ser111=) rs2102258993
NM_000530.8(MPZ):c.333_336del (p.Ile112fs) rs1670264356
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys)
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) rs1571818994
NM_000530.8(MPZ):c.345C>A (p.His115Gln) rs752484126
NM_000530.8(MPZ):c.345del (p.His115fs) rs2102258958
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala)
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro) rs2102258946
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg) rs2102258946
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn) rs1670263519
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp) rs1670263376
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala) rs878854030
NM_000530.8(MPZ):c.369C>T (p.Gly123=)
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser)
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser)
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser) rs1230674741
NM_000530.8(MPZ):c.378T>C (p.Thr126=)
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly)
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser) rs797044941
NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer) rs1553259651
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.382G>C (p.Asp128His) rs267607243
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr) rs267607243
NM_000530.8(MPZ):c.385G>T (p.Val129Phe)
NM_000530.8(MPZ):c.386T>G (p.Val129Gly) rs2102258829
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.391A>C (p.Asn131His) rs1571818826
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) rs1571818819
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala) rs1553259649
NM_000530.8(MPZ):c.394C>T (p.Pro132Ser) rs1553259649
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.397C>G (p.Pro133Ala) rs1553259648
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) rs1553259648
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) rs1558154010
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala) rs1571818775
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet) rs1553259646
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.407T>G (p.Val136Gly) rs1571818744
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln) rs1571818721
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu) rs1571818721
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr)
NM_000530.8(MPZ):c.415_417del (p.Thr139del)
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro)
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe) rs863224449
NM_000530.8(MPZ):c.424G>A (p.Val142Ile)
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) rs876661257
NM_000530.8(MPZ):c.424del (p.Val142fs) rs2102258700
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del)
NM_000530.8(MPZ):c.42G>A (p.Leu14=) rs1670359930
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis) rs1670258438
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.437T>C (p.Val146Ala) rs1571818614
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys) rs1670257659
NM_000530.8(MPZ):c.448+10G>A rs1224416223
NM_000530.8(MPZ):c.448+12G>T rs2102258615
NM_000530.8(MPZ):c.448+13A>T
NM_000530.8(MPZ):c.448+17G>A rs1172824315
NM_000530.8(MPZ):c.448+19A>G
NM_000530.8(MPZ):c.448+1G>A
NM_000530.8(MPZ):c.448+1G>T rs1407955132
NM_000530.8(MPZ):c.448+2T>A
NM_000530.8(MPZ):c.448+2T>C rs1670257221
NM_000530.8(MPZ):c.448+2T>G rs1670257221
NM_000530.8(MPZ):c.448G>A (p.Val150Met) rs1558153967
NM_000530.8(MPZ):c.448G>T (p.Val150Leu)
NM_000530.8(MPZ):c.449-14C>T
NM_000530.8(MPZ):c.449-1G>C rs1571818339
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
NM_000530.8(MPZ):c.466G>T (p.Val156Phe) rs775916243
NM_000530.8(MPZ):c.472C>T (p.Leu158=)
NM_000530.8(MPZ):c.474G>A (p.Leu158=)
NM_000530.8(MPZ):c.474G>C (p.Leu158=)
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly)
NM_000530.8(MPZ):c.486C>G (p.Ile162Met) rs267607246
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.488G>C (p.Gly163Ala)
NM_000530.8(MPZ):c.489G>A (p.Gly163=)
NM_000530.8(MPZ):c.491dup (p.Val165fs) rs1558153783
NM_000530.8(MPZ):c.496del (p.Leu166fs)
NM_000530.8(MPZ):c.498C>A (p.Leu166=) rs1224818819
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.49C>T (p.Leu17=) rs2102262770
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp)
NM_000530.8(MPZ):c.508_511del (p.Leu170fs)
NM_000530.8(MPZ):c.529T>C (p.Tyr177His)
NM_000530.8(MPZ):c.533_534del (p.Val178fs)
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly) rs1385085988
NM_000530.8(MPZ):c.552A>G (p.Leu184=)
NM_000530.8(MPZ):c.555C>T (p.Arg185=)
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser)
NM_000530.8(MPZ):c.560_563dup (p.Ala189fs) rs1553259566
NM_000530.8(MPZ):c.566C>T (p.Ala189Val) rs1268318757
NM_000530.8(MPZ):c.571C>T (p.Gln191Ter) rs2102257979
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys)
NM_000530.8(MPZ):c.577A>C (p.Arg193=)
NM_000530.8(MPZ):c.584+10G>C rs946514874
NM_000530.8(MPZ):c.584+16dup
NM_000530.8(MPZ):c.584+18G>C
NM_000530.8(MPZ):c.584+3A>T rs1670241598
NM_000530.8(MPZ):c.584+8G>A
NM_000530.8(MPZ):c.585-15T>C
NM_000530.8(MPZ):c.585-19G>A rs1558153528
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.585-8T>A
NM_000530.8(MPZ):c.585-8T>C rs1571817654
NM_000530.8(MPZ):c.589A>G (p.Met197Val) rs567817208
NM_000530.8(MPZ):c.590T>G (p.Met197Arg)
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
NM_000530.8(MPZ):c.597G>A (p.Lys199=) rs777928293
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu)
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) rs932826788
NM_000530.8(MPZ):c.601A>T (p.Lys201Ter)
NM_000530.8(MPZ):c.606G>A (p.Leu202=)
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) rs1670234637
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu)
NM_000530.8(MPZ):c.618A>T (p.Gly206=)
NM_000530.8(MPZ):c.638_639del (p.Gly213fs) rs2102257572
NM_000530.8(MPZ):c.641G>T (p.Arg214Leu)
NM_000530.8(MPZ):c.645+10A>G rs1670232533
NM_000530.8(MPZ):c.645G>A (p.Gln215=) rs1670232790
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-12C>A
NM_000530.8(MPZ):c.646-16_654dup
NM_000530.8(MPZ):c.646-20T>G
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-5C>A rs201115971
NM_000530.8(MPZ):c.646-5C>G rs201115971
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala)
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.648G>A (p.Thr216=)
NM_000530.8(MPZ):c.648G>C (p.Thr216=)
NM_000530.8(MPZ):c.648G>T (p.Thr216=) rs755728895
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala) rs281865132
NM_000530.8(MPZ):c.654G>A (p.Val218=) rs1571817228
NM_000530.8(MPZ):c.655C>T (p.Leu219=) rs1571817225
NM_000530.8(MPZ):c.67+15T>A
NM_000530.8(MPZ):c.67+4A>G rs1571822765
NM_000530.8(MPZ):c.67+5G>T rs1670359056
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) rs1571817154
NM_000530.8(MPZ):c.67G>A (p.Val23Met)
NM_000530.8(MPZ):c.68-11T>C
NM_000530.8(MPZ):c.68-1G>A rs1057518021
NM_000530.8(MPZ):c.68-1G>C rs1057518021
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.68-3C>T
NM_000530.8(MPZ):c.68-5T>G rs1553259835
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala)
NM_000530.8(MPZ):c.687C>T (p.Thr229=)
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu) rs2102257203
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) rs1670224859
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn)
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala) rs775575673
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe)
NM_000530.8(MPZ):c.738T>C (p.Asp246=) rs1571816986
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln) rs1670223250
NM_000530.8(MPZ):c.75C>T (p.Ser25=)
NM_000530.8(MPZ):c.77del (p.Pro26fs) rs1558154754
NM_000530.8(MPZ):c.78G>A (p.Pro26=)
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro)
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu) rs1386345719
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.90C>T (p.Ile30=)
NM_000530.8(MPZ):c.95T>G (p.Val32Gly) rs1670289570
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) rs771372609

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