NC_000018.10:g.(?_31498242)_(31598685_?)dup


NC_000018.10:g.31498074G>A


NC_000018.10:g.31498108G>A


NM_001943.4(DSG2):c.135A>T

rs886053709 
NM_001943.4(DSG2):c.156G>A

rs886053707 
NM_001943.4(DSG2):c.79C>G

rs552915392 
NM_001943.4(DSG2):c.829_840delCTTGAAGGGATG (p.Leu277_Met280del)

rs794728093 
NM_001943.5(DSG2):c.*1136G>A

rs764985189 
NM_001943.5(DSG2):c.*1263C>T

rs192887371 
NM_001943.5(DSG2):c.*1264G>C


NM_001943.5(DSG2):c.*1399A>G

rs117440439 
NM_001943.5(DSG2):c.*1530T>C

rs15668 
NM_001943.5(DSG2):c.*159G>A

rs886053719 
NM_001943.5(DSG2):c.*1652T>G

rs886053736 
NM_001943.5(DSG2):c.*1803A>G


NM_001943.5(DSG2):c.*1831T>C


NM_001943.5(DSG2):c.*1982A>C


NM_001943.5(DSG2):c.*211A>G

rs555912274 
NM_001943.5(DSG2):c.*289A>G

rs541237335 
NM_001943.5(DSG2):c.*2C>T

rs183494886 
NM_001943.5(DSG2):c.*300G>A

rs747504155 
NM_001943.5(DSG2):c.*392A>G

rs886053721 
NM_001943.5(DSG2):c.*422C>T

rs886053722 
NM_001943.5(DSG2):c.*425T>C

rs192049697 
NM_001943.5(DSG2):c.*608G>A

rs886053724 
NM_001943.5(DSG2):c.*666G>T


NM_001943.5(DSG2):c.*696G>A

rs773284085 
NM_001943.5(DSG2):c.*737C>G

rs767211637 
NM_001943.5(DSG2):c.*739G>A


NM_001943.5(DSG2):c.*755G>A

rs886053725 
NM_001943.5(DSG2):c.*788G>C

rs886053726 
NM_001943.5(DSG2):c.*806C>T


NM_001943.5(DSG2):c.*847T>C


NM_001943.5(DSG2):c.*859G>A

rs886053727 
NM_001943.5(DSG2):c.*889G>A

rs886053729 
NM_001943.5(DSG2):c.*96C>G

rs886053718 
NM_001943.5(DSG2):c.*990G>A

rs553112355 
NM_001943.5(DSG2):c.33G>A


NM_001943.5(DSG2):c.55G>C

rs551539015 
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)

rs191564916 
NM_001943.5(DSG2):c.1006C>T (p.Leu336Phe)

rs1060502864 
NM_001943.5(DSG2):c.1018G>T (p.Val340Leu)

rs1369312425 
NM_001943.5(DSG2):c.1031A>T (p.Glu344Val)

rs886053713 
NM_001943.5(DSG2):c.1035_1037GAA[1] (p.Lys346del)

rs727502987 
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)

rs201046640 
NM_001943.5(DSG2):c.1063G>T (p.Ala355Ser)

rs201046640 
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)

rs758537946 
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met)


NM_001943.5(DSG2):c.1109C>G (p.Pro370Arg)

rs1555627121 
NM_001943.5(DSG2):c.1130T>A (p.Val377Asp)

rs794728085 
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)

rs397516701 
NM_001943.5(DSG2):c.122A>T (p.His41Leu)

rs777373864 
NM_001943.5(DSG2):c.1243G>A (p.Ala415Thr)


NM_001943.5(DSG2):c.1256A>G (p.Asp419Gly)


NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)

rs760135423 
NM_001943.5(DSG2):c.1277C>T (p.Ala426Val)

rs1555627137 
NM_001943.5(DSG2):c.1281A>G (p.Arg427=)


NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser)

rs370547219 
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)

rs540113579 
NM_001943.5(DSG2):c.1297G>A (p.Asp433Asn)

rs938919152 
NM_001943.5(DSG2):c.1331C>T (p.Thr444Ile)


NM_001943.5(DSG2):c.1342A>G (p.Lys448Glu)


NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)


NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)

rs576404380 
NM_001943.5(DSG2):c.1397C>G (p.Thr466Ser)

rs769137357 
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)

rs769137357 
NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu)

rs774607590 
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)

rs1598819592 
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser)

rs886053714 
NM_001943.5(DSG2):c.145C>A (p.Arg49Ser)

rs762526848 
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)

rs375679311 
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)

rs778100657 
NM_001943.5(DSG2):c.147C>T (p.Arg49=)

rs531036279 
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr)

rs1293179210 
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp)

rs1191142951 
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)

rs121913009 
NM_001943.5(DSG2):c.1524C>A (p.His508Gln)


NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)

rs753406968 
NM_001943.5(DSG2):c.1540A>G (p.Asn514Asp)

rs1598819735 
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)

rs200509948 
NM_001943.5(DSG2):c.1555G>C (p.Asp519His)


NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)

rs778119035 
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)

rs730880077 
NM_001943.5(DSG2):c.1583C>G (p.Pro528Arg)


NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)

rs200484060 
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)

rs199761749 
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)

rs368718022 
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)


NM_001943.5(DSG2):c.1610C>A (p.Pro537Gln)

rs1598819817 
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys)

rs550400909 
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)

rs551034751 
NM_001943.5(DSG2):c.1643G>T (p.Arg548Leu)


NM_001943.5(DSG2):c.1648G>A (p.Glu550Lys)


NM_001943.5(DSG2):c.164C>T (p.Pro55Leu)

rs748684045 
NM_001943.5(DSG2):c.16525T>A


NM_001943.5(DSG2):c.166G>A (p.Val56Met)

rs121913013 
NM_001943.5(DSG2):c.1674A>C (p.Gln558His)

rs1019401099 
NM_001943.5(DSG2):c.1676G>C (p.Ser559Thr)

rs1254841751 
NM_001943.5(DSG2):c.1680G>T (p.Glu560Asp)


NM_001943.5(DSG2):c.1707G>C (p.Gln569His)


NM_001943.5(DSG2):c.1722C>A (p.Asp574Glu)


NM_001943.5(DSG2):c.172C>G (p.Leu58Val)


NM_001943.5(DSG2):c.1752_1784del (p.Gln584_Leu594del)

rs1333431543 
NM_001943.5(DSG2):c.1754T>G (p.Val585Gly)


NM_001943.5(DSG2):c.1758T>C (p.Leu586=)

rs773812422 
NM_001943.5(DSG2):c.1768G>C (p.Val590Leu)


NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser)

rs773666300 
NM_001943.5(DSG2):c.1793G>C (p.Gly598Ala)

rs1598821488 
NM_001943.5(DSG2):c.1801G>A (p.Glu601Lys)

rs1598821506 
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys)


NM_001943.5(DSG2):c.1820A>T (p.Tyr607Phe)


NM_001943.5(DSG2):c.182G>T (p.Gly61Val)


NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr)

rs368257724 
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)

rs202057770 
NM_001943.5(DSG2):c.1863C>G (p.Ala621=)

rs768150787 
NM_001943.5(DSG2):c.1879+8T>C


NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)

rs200804638 
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg)


NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)

rs201564919 
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)


NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile)


NM_001943.5(DSG2):c.1952T>C (p.Ile651Thr)

rs766353242 
NM_001943.5(DSG2):c.1952T>G (p.Ile651Arg)

rs766353242 
NM_001943.5(DSG2):c.2004G>A (p.Val668=)

rs773645222 
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)

rs1036247495 
NM_001943.5(DSG2):c.2019G>C (p.Leu673=)

rs886053715 
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)

rs372494397 
NM_001943.5(DSG2):c.2068A>G (p.Met690Val)


NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu)

rs997161591 
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp)

rs375595872 
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)

rs200137091 
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile)

rs1598823943 
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)

rs769713919 
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)

rs727504770 
NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del)

rs778319427 
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr)


NM_001943.5(DSG2):c.216+3A>C

rs774208829 
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)

rs756912703 
NM_001943.5(DSG2):c.2174T>C (p.Leu725Pro)


NM_001943.5(DSG2):c.2178T>C (p.Ser726=)


NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr)

rs397516705 
NM_001943.5(DSG2):c.2215A>T (p.Ile739Phe)


NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)

rs727504783 
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser)

rs763994831 
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)

rs727502989 
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu)


NM_001943.5(DSG2):c.2270T>C (p.Met757Thr)

rs876657792 
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)

rs765793636 
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)

rs371146201 
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)

rs771104668 
NM_001943.5(DSG2):c.2334+9G>A

rs776516070 
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser)


NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)

rs369868954 
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu)


NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)

rs763315024 
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro)


NM_001943.5(DSG2):c.2426C>T (p.Ala809Val)

rs1278738577 
NM_001943.5(DSG2):c.2428T>A (p.Ser810Thr)

rs1555628166 
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)

rs121913010 
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)

rs121913010 
NM_001943.5(DSG2):c.2443A>C (p.Ser815Arg)


NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr)


NM_001943.5(DSG2):c.245G>T (p.Gly82Val)

rs756081987 
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)

rs201051252 
NM_001943.5(DSG2):c.2485T>A (p.Leu829Met)

rs968817397 
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)


NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)

rs767979763 
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)

rs756338201 
NM_001943.5(DSG2):c.2536G>T (p.Asp846Tyr)

rs1226243364 
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser)

rs775091459 
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile)

rs375955157 
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln)

rs754057911 
NM_001943.5(DSG2):c.2619A>G (p.Gln873=)


NM_001943.5(DSG2):c.2623A>G (p.Met875Val)

rs370316475 
NM_001943.5(DSG2):c.2638A>C (p.Asn880His)


NM_001943.5(DSG2):c.2643C>A (p.Thr881=)


NM_001943.5(DSG2):c.2643C>T (p.Thr881=)

rs180695545 
NM_001943.5(DSG2):c.2645A>C (p.Tyr882Ser)

rs1555628211 
NM_001943.5(DSG2):c.2646_2648CTC[1] (p.Ser884del)

rs794728095 
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe)

rs371498622 
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp)

rs765238150 
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)

rs772744115 
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg)

rs886039190 
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)


NM_001943.5(DSG2):c.2713G>A (p.Glu905Lys)


NM_001943.5(DSG2):c.2720T>G (p.Val907Gly)


NM_001943.5(DSG2):c.2741C>G (p.Ser914Cys)

rs771214695 
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)

rs375358300 
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)

rs146402368 
NM_001943.5(DSG2):c.2797G>A (p.Val933Met)

rs373055076 
NM_001943.5(DSG2):c.2797G>T (p.Val933Leu)


NM_001943.5(DSG2):c.2800A>G (p.Ile934Val)

rs1469730786 
NM_001943.5(DSG2):c.2825C>T (p.Thr942Ile)


NM_001943.5(DSG2):c.2830T>C (p.Ser944Pro)


NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala)


NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr)

rs764925318 
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)

rs141405267 
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val)

rs933743259 
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu)

rs1567934945 
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala)


NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)

rs200830807 
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)

rs886053716 
NM_001943.5(DSG2):c.3055_3056AG[3] (p.Ser1021fs)

rs397516706 
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val)

rs774113529 
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile)

rs201966605 
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs)

rs758822081 
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)

rs767538450 
NM_001943.5(DSG2):c.3205A>G (p.Met1069Val)


NM_001943.5(DSG2):c.3210G>A (p.Thr1070=)

rs771104963 
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)


NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala)

rs1064795829 
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)

rs200264407 
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg)


NM_001943.5(DSG2):c.3281G>A (p.Gly1094Asp)

rs144313973 
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)

rs386802145 
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)

rs2848673 
NM_001943.5(DSG2):c.3308C>G (p.Ser1103Cys)


NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter)

rs776078563 
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)

rs368703304 
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)

rs532305326 
NM_001943.5(DSG2):c.367C>T (p.Pro123Ser)


NM_001943.5(DSG2):c.3793C>T

rs376556524 
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys)


NM_001943.5(DSG2):c.390C>T (p.Tyr130=)

rs369489095 
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)

rs373542380 
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr)

rs1005230453 
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)

rs199842209 
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)

rs113451409 
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)

rs372606274 
NM_001943.5(DSG2):c.447T>C (p.Val149=)


NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)

rs372174546 
NM_001943.5(DSG2):c.45+10G>T

rs776975980 
NM_001943.5(DSG2):c.45+9C>G

rs376573409 
NM_001943.5(DSG2):c.451G>A (p.Asp151Asn)

rs1598810722 
NM_001943.5(DSG2):c.46A>G (p.Ile16Val)

rs376660601 
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)

rs587782938 
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)

rs199926617 
NM_001943.5(DSG2):c.523+6A>G

rs769467654 
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)

rs536617217 
NM_001943.5(DSG2):c.536T>C (p.Met179Thr)

rs753854046 
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)

rs368512832 
NM_001943.5(DSG2):c.551C>T (p.Thr184Ile)


NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)

rs763948986 
NM_001943.5(DSG2):c.572C>G (p.Thr191Ser)

rs1555671315 
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)

rs374875442 
NM_001943.5(DSG2):c.586A>G (p.Ile196Val)


NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)

rs786204291 
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser)

rs200946320 
NM_001943.5(DSG2):c.650C>T (p.Thr217Ile)

rs776720174 
NM_001943.5(DSG2):c.670A>G (p.Ser224Gly)

rs1060502863 
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile)

rs751490881 
NM_001943.5(DSG2):c.734A>G (p.Asn245Ser)

rs1568106586 
NM_001943.5(DSG2):c.772G>T (p.Val258Phe)

rs1060502865 
NM_001943.5(DSG2):c.782G>A (p.Arg261His)

rs727502984 
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr)

rs727502986 
NM_001943.5(DSG2):c.823T>C


NM_001943.5(DSG2):c.828+13C>A


NM_001943.5(DSG2):c.828+5C>T


NM_001943.5(DSG2):c.852T>C (p.Asn284=)

rs62095193 
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)

rs780374242 
NM_001943.5(DSG2):c.872C>T (p.Thr291Met)

rs774563205 
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)

rs770921270 
NM_001943.5(DSG2):c.875G>A (p.Arg292His)

rs185821167 
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)

rs185821167 
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)

rs2230234 
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)

rs752432726 
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)

rs751012696 
NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del)


NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)

rs757792714 
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)

rs201040643 
NM_001943.5(DSG2):c.968T>G (p.Ile323Arg)


NM_001943.5(DSG2):c.977A>T (p.Asp326Val)

rs769699241 
NM_001943.5(DSG2):c.990C>T (p.Asn330=)

rs140575919 
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)

rs121913012 
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr)

rs773871942 