ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular dysplasia 10

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 699
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_001943.5(DSG2):c.*990G>A rs553112355 0.00205
NM_001943.5(DSG2):c.*1399A>G rs117440439 0.00186
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_001943.4(DSG2):c.-79C>G rs552915392 0.00179
NM_001943.5(DSG2):c.-55G>C rs551539015 0.00176
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001943.5(DSG2):c.*1530T>C rs15668 0.00126
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_001943.5(DSG2):c.*211A>G rs555912274 0.00039
NM_001943.5(DSG2):c.*889G>A rs886053729 0.00038
NM_001943.5(DSG2):c.*737C>G rs767211637 0.00037
NM_001943.5(DSG2):c.*1831T>C rs546796254 0.00030
NM_001943.5(DSG2):c.*300G>A rs747504155 0.00025
NM_001943.5(DSG2):c.*608G>A rs886053724 0.00022
NM_001943.5(DSG2):c.*739G>A rs775624337 0.00019
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00018
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_001943.5(DSG2):c.*1263C>T rs192887371 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_001943.5(DSG2):c.*422C>T rs886053722 0.00014
NM_001943.5(DSG2):c.*696G>A rs773284085 0.00014
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr) rs1267795586 0.00013
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_001943.5(DSG2):c.*847T>C rs930886277 0.00012
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn) rs140193292 0.00012
NM_001943.5(DSG2):c.*1803A>G rs147816088 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954 0.00011
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) rs767979763 0.00011
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_001943.5(DSG2):c.*425T>C rs192049697 0.00009
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_001943.5(DSG2):c.*392A>G rs886053721 0.00007
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_001943.5(DSG2):c.*289A>G rs541237335 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile) rs373512167 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe) rs199926617 0.00006
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) rs727505205 0.00006
NM_001943.5(DSG2):c.*859G>A rs886053727 0.00005
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp) rs749602291 0.00005
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser) rs760402926 0.00005
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) rs376858770 0.00005
NM_001943.5(DSG2):c.2597C>T (p.Ala866Val) rs553730922 0.00005
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368 0.00005
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr) rs764925318 0.00005
NM_001943.5(DSG2):c.3095C>T (p.Thr1032Ile) rs775546937 0.00005
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_001943.5(DSG2):c.*1136G>A rs764985189 0.00004
NM_001943.5(DSG2):c.*806C>T rs961192815 0.00004
NM_001943.5(DSG2):c.-33G>A rs903231469 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00004
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr) rs368257724 0.00004
NM_001943.5(DSG2):c.1878A>G (p.Leu626=) rs771576658 0.00004
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg) rs940804506 0.00004
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024 0.00004
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg) rs886039190 0.00004
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_001943.5(DSG2):c.523+6A>G rs769467654 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_001943.4(DSG2):c.-156G>A rs886053707 0.00003
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu) rs774607590 0.00003
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035 0.00003
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys) rs550400909 0.00003
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser) rs773666300 0.00003
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp) rs375595872 0.00003
NM_001943.5(DSG2):c.216+3A>C rs774208829 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.2426C>T (p.Ala809Val) rs1278738577 0.00003
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) rs777642924 0.00003
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 0.00003
NM_001943.5(DSG2):c.2638A>C (p.Asn880His) rs745617885 0.00003
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) rs374807974 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr) rs371918777 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) rs774863785 0.00002
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn) rs747248279 0.00002
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp) rs1191142951 0.00002
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys) rs766843045 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys) rs376819371 0.00002
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr) rs397516705 0.00002
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu) rs750010743 0.00002
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) rs775091459 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala) rs746297630 0.00002
NM_001943.5(DSG2):c.2996C>T (p.Ser999Leu) rs762717195 0.00002
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val) rs774113529 0.00002
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln) rs532305326 0.00002
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) rs536617217 0.00002
NM_001943.5(DSG2):c.82-17A>G rs757764234 0.00002
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser) rs786205361 0.00002
NM_001943.5(DSG2):c.8G>A (p.Arg3Gln) rs979865463 0.00002
NM_001943.5(DSG2):c.919C>G (p.Leu307Val) rs1052070604 0.00002
NM_001943.5(DSG2):c.973A>G (p.Thr325Ala) rs745763739 0.00002
NM_001943.5(DSG2):c.977A>T (p.Asp326Val) rs769699241 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_001943.4(DSG2):c.-144G>A rs1478833586 0.00001
NM_001943.4(DSG2):c.-178G>A rs1367107745 0.00001
NM_001943.5(DSG2):c.*666G>T rs1475926412 0.00001
NM_001943.5(DSG2):c.1000G>A (p.Val334Met) rs761360851 0.00001
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met) rs1454000095 0.00001
NM_001943.5(DSG2):c.1045G>A (p.Asp349Asn) rs754281384 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met) rs375740419 0.00001
NM_001943.5(DSG2):c.1109C>G (p.Pro370Arg) rs1555627121 0.00001
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) rs369214871 0.00001
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser) rs370547219 0.00001
NM_001943.5(DSG2):c.128A>G (p.His43Arg) rs370922106 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 0.00001
NM_001943.5(DSG2):c.1304A>G (p.Asp435Gly) rs767684377 0.00001
NM_001943.5(DSG2):c.1308T>A (p.Asn436Lys) rs1163162410 0.00001
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile) rs1598819592 0.00001
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val) rs368419383 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_001943.5(DSG2):c.1460T>G (p.Ile487Ser) rs776525113 0.00001
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala) rs748619993 0.00001
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657 0.00001
NM_001943.5(DSG2):c.1484A>G (p.Asn495Ser) rs1343972091 0.00001
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr) rs1293179210 0.00001
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr) rs769741655 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_001943.5(DSG2):c.1537G>A (p.Val513Met) rs1325342385 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr) rs549421694 0.00001
NM_001943.5(DSG2):c.1612C>T (p.Pro538Ser) rs766053352 0.00001
NM_001943.5(DSG2):c.1622C>G (p.Ala541Gly) rs764745535 0.00001
NM_001943.5(DSG2):c.1624G>C (p.Glu542Gln) rs376784940 0.00001
NM_001943.5(DSG2):c.1633A>C (p.Lys545Gln) rs544175105 0.00001
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu) rs748684045 0.00001
NM_001943.5(DSG2):c.1652-5T>A rs750711733 0.00001
NM_001943.5(DSG2):c.1754T>G (p.Val585Gly) rs1226887053 0.00001
NM_001943.5(DSG2):c.1758T>C (p.Leu586=) rs773812422 0.00001
NM_001943.5(DSG2):c.176G>A (p.Arg59Gln) rs768794560 0.00001
NM_001943.5(DSG2):c.1784A>G (p.His595Arg) rs371326860 0.00001
NM_001943.5(DSG2):c.1814A>T (p.Asp605Val) rs761157959 0.00001
NM_001943.5(DSG2):c.1826G>T (p.Gly609Val) rs754168863 0.00001
NM_001943.5(DSG2):c.1829T>C (p.Leu610Pro) rs755196345 0.00001
NM_001943.5(DSG2):c.1831G>A (p.Gly611Arg) rs779056577 0.00001
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) rs794728087 0.00001
NM_001943.5(DSG2):c.1880-3C>T rs2073264462 0.00001
NM_001943.5(DSG2):c.1921G>A (p.Ala641Thr) rs1445203397 0.00001
NM_001943.5(DSG2):c.1957A>T (p.Met653Leu) rs1382682032 0.00001
NM_001943.5(DSG2):c.1996G>C (p.Asp666His) rs771623047 0.00001
NM_001943.5(DSG2):c.2001+3C>G rs746471051 0.00001
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser) rs756896076 0.00001
NM_001943.5(DSG2):c.2068A>G (p.Met690Val) rs1453554024 0.00001
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu) rs997161591 0.00001
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) rs141388237 0.00001
NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr) rs759420598 0.00001
NM_001943.5(DSG2):c.2203G>A (p.Ala735Thr) rs1179912383 0.00001
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val) rs772240008 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu) rs769649528 0.00001
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) rs794728090 0.00001
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro) rs1384172051 0.00001
NM_001943.5(DSG2):c.2491C>T (p.Leu831Phe) rs763547599 0.00001
NM_001943.5(DSG2):c.2498T>G (p.Phe833Cys) rs2073302543 0.00001
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp) rs374177723 0.00001
NM_001943.5(DSG2):c.2534T>C (p.Ile845Thr) rs1303479214 0.00001
NM_001943.5(DSG2):c.2558A>G (p.Gln853Arg) rs1567934468 0.00001
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile) rs375955157 0.00001
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln) rs754057911 0.00001
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) rs760786694 0.00001
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) rs371498622 0.00001
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp) rs759746836 0.00001
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) rs765238150 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu) rs372335085 0.00001
NM_001943.5(DSG2):c.2713G>A (p.Glu905Lys) rs1156468696 0.00001
NM_001943.5(DSG2):c.2716A>G (p.Ile906Val) rs748894535 0.00001
NM_001943.5(DSG2):c.2729G>T (p.Arg910Ile) rs778488673 0.00001
NM_001943.5(DSG2):c.2741C>G (p.Ser914Cys) rs771214695 0.00001
NM_001943.5(DSG2):c.2753A>G (p.Gln918Arg) rs1367277603 0.00001
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) rs1408093009 0.00001
NM_001943.5(DSG2):c.2797G>A (p.Val933Met) rs373055076 0.00001
NM_001943.5(DSG2):c.2807C>T (p.Thr936Ile) rs1221413592 0.00001
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn) rs919875624 0.00001
NM_001943.5(DSG2):c.287A>T (p.Glu96Val) rs2073123571 0.00001
NM_001943.5(DSG2):c.2908C>T (p.Pro970Ser) rs758058872 0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432 0.00001
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) rs1275376903 0.00001
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu) rs1567934945 0.00001
NM_001943.5(DSG2):c.298G>C (p.Gly100Arg) rs754405184 0.00001
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala) rs1386679487 0.00001
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716 0.00001
NM_001943.5(DSG2):c.3086T>C (p.Val1029Ala) rs769806198 0.00001
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790 0.00001
NM_001943.5(DSG2):c.3101C>T (p.Ala1034Val) rs762885186 0.00001
NM_001943.5(DSG2):c.3137T>C (p.Val1046Ala) rs2073312094 0.00001
NM_001943.5(DSG2):c.3205A>G (p.Met1069Val) rs1024370144 0.00001
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met) rs943749481 0.00001
NM_001943.5(DSG2):c.3340C>G (p.Gln1114Glu) rs776078563 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.447T>C (p.Val149=) rs1389484271 0.00001
NM_001943.5(DSG2):c.458A>G (p.Asn153Ser) rs375597675 0.00001
NM_001943.5(DSG2):c.46-3C>T rs777302616 0.00001
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys) rs566251077 0.00001
NM_001943.5(DSG2):c.46A>G (p.Ile16Val) rs376660601 0.00001
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938 0.00001
NM_001943.5(DSG2):c.536T>C (p.Met179Thr) rs753854046 0.00001
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.58G>A (p.Val20Ile) rs746192055 0.00001
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320 0.00001
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu) rs794728082 0.00001
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile) rs751490881 0.00001
NM_001943.5(DSG2):c.690G>A (p.Glu230=) rs767433640 0.00001
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile) rs767523704 0.00001
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg) rs765118809 0.00001
NM_001943.5(DSG2):c.782G>A (p.Arg261His) rs727502984 0.00001
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388 0.00001
NM_001943.5(DSG2):c.82-3T>C rs370099811 0.00001
NM_001943.5(DSG2):c.828+5C>T rs373286117 0.00001
NM_001943.5(DSG2):c.872C>T (p.Thr291Met) rs774563205 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001943.5(DSG2):c.884T>C (p.Val295Ala) rs762588785 0.00001
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) rs751012696 0.00001
NM_001943.5(DSG2):c.902T>C (p.Ile301Thr) rs1370553229 0.00001
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919 0.00001
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr) rs773871942 0.00001
NC_000018.10:g.(?_31498242)_(31598685_?)dup
NC_000018.9:g.(?_29078215)_(29178638_?)dup
NC_000018.9:g.(?_29098182)_(29178638_?)dup
NC_000018.9:g.(?_29118704)_(29126716_?)dup
NC_000018.9:g.(?_29122463)_(29122835_?)del
NM_001943.4(DSG2):c.-135A>T rs886053709
NM_001943.5(DSG2):c.*1264G>C rs115099821
NM_001943.5(DSG2):c.*159G>A rs886053719
NM_001943.5(DSG2):c.*1652T>G rs886053736
NM_001943.5(DSG2):c.*1982A>C rs1302003146
NM_001943.5(DSG2):c.*755G>A rs886053725
NM_001943.5(DSG2):c.*788G>C rs886053726
NM_001943.5(DSG2):c.*96C>G rs886053718
NM_001943.5(DSG2):c.1006C>T (p.Leu336Phe) rs1060502864
NM_001943.5(DSG2):c.1013A>G (p.Lys338Arg)
NM_001943.5(DSG2):c.1015G>A (p.Glu339Lys)
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.1034T>A (p.Met345Lys) rs2144332528
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1063G>T (p.Ala355Ser) rs201046640
NM_001943.5(DSG2):c.1066A>C (p.Asn356His)
NM_001943.5(DSG2):c.1088C>T (p.Ser363Leu) rs751527714
NM_001943.5(DSG2):c.1090A>G (p.Ile364Val) rs780014639
NM_001943.5(DSG2):c.1098T>G (p.Ser366Arg)
NM_001943.5(DSG2):c.10A>C (p.Ser4Arg)
NM_001943.5(DSG2):c.10A>G (p.Ser4Gly) rs1415117974
NM_001943.5(DSG2):c.1100A>G (p.Lys367Arg) rs1057518504
NM_001943.5(DSG2):c.1101A>G (p.Lys367=)
NM_001943.5(DSG2):c.1128G>T (p.Lys376Asn) rs760119108
NM_001943.5(DSG2):c.1129G>A (p.Val377Ile)
NM_001943.5(DSG2):c.1130T>A (p.Val377Asp) rs794728085
NM_001943.5(DSG2):c.1132A>C (p.Lys378Gln)
NM_001943.5(DSG2):c.1132A>G (p.Lys378Glu)
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp) rs727504748
NM_001943.5(DSG2):c.1166A>T (p.Lys389Ile)
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg) rs763242004
NM_001943.5(DSG2):c.1205A>G (p.Asp402Gly)
NM_001943.5(DSG2):c.1219G>A (p.Gly407Ser)
NM_001943.5(DSG2):c.1220G>C (p.Gly407Ala)
NM_001943.5(DSG2):c.1229T>C (p.Ile410Thr)
NM_001943.5(DSG2):c.1252G>A (p.Glu418Lys)
NM_001943.5(DSG2):c.1255G>A (p.Asp419Asn)
NM_001943.5(DSG2):c.1256A>G (p.Asp419Gly) rs760135423
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.5(DSG2):c.125C>T (p.Pro42Leu)
NM_001943.5(DSG2):c.1274A>C (p.His425Pro) rs746180213
NM_001943.5(DSG2):c.1274A>G (p.His425Arg) rs746180213
NM_001943.5(DSG2):c.1277C>T (p.Ala426Val) rs1555627137
NM_001943.5(DSG2):c.127C>T (p.His43Tyr)
NM_001943.5(DSG2):c.1297G>A (p.Asp433Asn) rs938919152
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr) rs938919152
NM_001943.5(DSG2):c.130T>G (p.Leu44Val)
NM_001943.5(DSG2):c.1316C>G (p.Ser439Cys) rs2073222283
NM_001943.5(DSG2):c.1331C>T (p.Thr444Ile) rs2073222443
NM_001943.5(DSG2):c.1342A>G (p.Lys448Glu) rs2073222488
NM_001943.5(DSG2):c.1349C>T (p.Ala450Val)
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg) rs763810935
NM_001943.5(DSG2):c.1359T>G (p.Pro453=)
NM_001943.5(DSG2):c.1361_1387del (p.Asp454_Asn462del) rs2073222763
NM_001943.5(DSG2):c.1368A>G (p.Glu456=)
NM_001943.5(DSG2):c.1373G>T (p.Arg458Ile) rs2144339865
NM_001943.5(DSG2):c.1374_1388del (p.Arg458_Gly463delinsSer) rs2073222954
NM_001943.5(DSG2):c.1379T>A (p.Val460Asp)
NM_001943.5(DSG2):c.1397C>G (p.Thr466Ser) rs769137357
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) rs727504533
NM_001943.5(DSG2):c.13C>G (p.Pro5Ala)
NM_001943.5(DSG2):c.1409T>C (p.Val470Ala)
NM_001943.5(DSG2):c.1411G>A (p.Ala471Thr)
NM_001943.5(DSG2):c.1423+5del
NM_001943.5(DSG2):c.1423G>C (p.Asp475His)
NM_001943.5(DSG2):c.1423G>T (p.Asp475Tyr)
NM_001943.5(DSG2):c.1429C>A (p.Pro477Thr)
NM_001943.5(DSG2):c.1435A>G (p.Lys479Glu) rs779432999
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser) rs886053714
NM_001943.5(DSG2):c.1448G>A (p.Gly483Asp) rs2144341363
NM_001943.5(DSG2):c.145C>A (p.Arg49Ser) rs762526848
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) rs776525113
NM_001943.5(DSG2):c.1463A>G (p.Asn488Ser) rs794728078
NM_001943.5(DSG2):c.1477A>G (p.Asn493Asp) rs2144341490
NM_001943.5(DSG2):c.1477_1479del (p.Asn493del) rs2073229597
NM_001943.5(DSG2):c.1482C>G (p.Asp494Glu)
NM_001943.5(DSG2):c.1487G>A (p.Cys496Tyr) rs1346150383
NM_001943.5(DSG2):c.1489C>G (p.Pro497Ala)
NM_001943.5(DSG2):c.148G>C (p.Ala50Pro)
NM_001943.5(DSG2):c.148G>T (p.Ala50Ser) rs1267795586
NM_001943.5(DSG2):c.1499T>G (p.Ile500Arg) rs769741655
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu) rs530517936
NM_001943.5(DSG2):c.1501G>C (p.Glu501Gln) rs1567930737
NM_001943.5(DSG2):c.151T>C (p.Trp51Arg) rs1064794367
NM_001943.5(DSG2):c.1524C>A (p.His508Gln) rs560004953
NM_001943.5(DSG2):c.1527T>A (p.Asp509Glu)
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu) rs397516702
NM_001943.5(DSG2):c.1532A>G (p.Glu511Gly) rs1416039056
NM_001943.5(DSG2):c.1533G>C (p.Glu511Asp)
NM_001943.5(DSG2):c.1540A>G (p.Asn514Asp) rs1598819735
NM_001943.5(DSG2):c.1541A>C (p.Asn514Thr)
NM_001943.5(DSG2):c.1541A>T (p.Asn514Ile) rs986617814
NM_001943.5(DSG2):c.1543G>T (p.Val515Phe)
NM_001943.5(DSG2):c.1549G>A (p.Ala517Thr)
NM_001943.5(DSG2):c.1549G>T (p.Ala517Ser) rs1299327345
NM_001943.5(DSG2):c.154A>T (p.Ile52Phe)
NM_001943.5(DSG2):c.1555G>C (p.Asp519His) rs778119035
NM_001943.5(DSG2):c.1561G>A (p.Asp521Asn) rs2144341791
NM_001943.5(DSG2):c.1569C>G (p.His523Gln)
NM_001943.5(DSG2):c.1577G>A (p.Ser526Asn) rs771083574
NM_001943.5(DSG2):c.1583C>G (p.Pro528Arg) rs1023084089
NM_001943.5(DSG2):c.158C>G (p.Thr53Ser) rs1456845187
NM_001943.5(DSG2):c.1601T>C (p.Ile534Thr) rs2144341885
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1610C>A (p.Pro537Gln) rs1598819817
NM_001943.5(DSG2):c.1613C>T (p.Pro538Leu)
NM_001943.5(DSG2):c.1618A>G (p.Met540Val)
NM_001943.5(DSG2):c.1630T>G (p.Trp544Gly)
NM_001943.5(DSG2):c.1639G>A (p.Ala547Thr)
NM_001943.5(DSG2):c.1642C>G (p.Arg548Gly)
NM_001943.5(DSG2):c.1643G>T (p.Arg548Leu) rs551034751
NM_001943.5(DSG2):c.1648G>A (p.Glu550Lys) rs972736246
NM_001943.5(DSG2):c.1649A>G (p.Glu550Gly) rs2144342065
NM_001943.5(DSG2):c.1651A>G (p.Ser551Gly)
NM_001943.5(DSG2):c.1652-2dup
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile) rs1567931587
NM_001943.5(DSG2):c.1670A>G (p.Gln557Arg)
NM_001943.5(DSG2):c.1674A>C (p.Gln558His) rs1019401099
NM_001943.5(DSG2):c.1676G>A (p.Ser559Asn)
NM_001943.5(DSG2):c.1676G>C (p.Ser559Thr) rs1254841751
NM_001943.5(DSG2):c.1680G>T (p.Glu560Asp) rs2073247614
NM_001943.5(DSG2):c.1688T>C (p.Leu563Pro)
NM_001943.5(DSG2):c.1696A>C (p.Ser566Arg) rs2144346505
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
NM_001943.5(DSG2):c.1707G>C (p.Gln569His) rs370097438
NM_001943.5(DSG2):c.170C>T (p.Ala57Val) rs756635006
NM_001943.5(DSG2):c.1722C>A (p.Asp574Glu) rs2073247879
NM_001943.5(DSG2):c.1729G>C (p.Gly577Arg)
NM_001943.5(DSG2):c.172C>G (p.Leu58Val) rs780300040
NM_001943.5(DSG2):c.172C>T (p.Leu58Phe)
NM_001943.5(DSG2):c.1730G>C (p.Gly577Ala) rs1567931644
NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)
NM_001943.5(DSG2):c.1752_1784del (p.Gln584_Leu594del) rs1333431543
NM_001943.5(DSG2):c.1760C>A (p.Thr587Lys)
NM_001943.5(DSG2):c.1762C>G (p.Leu588Val) rs1278145047
NM_001943.5(DSG2):c.1768G>A (p.Val590Ile)
NM_001943.5(DSG2):c.1768G>C (p.Val590Leu) rs2073248446
NM_001943.5(DSG2):c.1786G>A (p.Gly596Ser)
NM_001943.5(DSG2):c.1791C>A (p.Ser597Arg)
NM_001943.5(DSG2):c.1793G>C (p.Gly598Ala) rs1598821488
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) rs762413624
NM_001943.5(DSG2):c.1796G>T (p.Cys599Phe)
NM_001943.5(DSG2):c.1801G>A (p.Glu601Lys) rs1598821506
NM_001943.5(DSG2):c.1811A>G (p.His604Arg) rs1359949181
NM_001943.5(DSG2):c.1820A>T (p.Tyr607Phe) rs766843045
NM_001943.5(DSG2):c.1825G>C (p.Gly609Arg) rs2144346907
NM_001943.5(DSG2):c.182G>T (p.Gly61Val) rs779224655
NM_001943.5(DSG2):c.1846G>A (p.Ala616Thr)
NM_001943.5(DSG2):c.1863C>G (p.Ala621=) rs768150787
NM_001943.5(DSG2):c.1878A>T (p.Leu626=)
NM_001943.5(DSG2):c.1879+8T>C rs2073249877
NM_001943.5(DSG2):c.1880-17A>G rs1295022734
NM_001943.5(DSG2):c.1881G>A (p.Leu627=)
NM_001943.5(DSG2):c.188A>T (p.Asp63Val)
NM_001943.5(DSG2):c.1932T>C (p.Phe644=) rs2073265410
NM_001943.5(DSG2):c.1933A>T (p.Thr645Ser) rs1229669407
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.1959G>A (p.Met653Ile) rs794728088
NM_001943.5(DSG2):c.1964A>T (p.His655Leu)
NM_001943.5(DSG2):c.196A>C (p.Lys66Gln)
NM_001943.5(DSG2):c.1973A>C (p.Asn658Thr)
NM_001943.5(DSG2):c.1988C>T (p.Pro663Leu) rs893262083
NM_001943.5(DSG2):c.2000A>G (p.Lys667Arg) rs2144350910
NM_001943.5(DSG2):c.2001+3C>T
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu) rs1036247495
NM_001943.5(DSG2):c.2009CAT[3] (p.Ser671_Phe672insSer)
NM_001943.5(DSG2):c.200A>G (p.Lys67Arg)
NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu) rs2144352923
NM_001943.5(DSG2):c.2019G>C (p.Leu673=) rs886053715
NM_001943.5(DSG2):c.2020C>T (p.Pro674Ser) rs2144352935
NM_001943.5(DSG2):c.2033G>T (p.Gly678Val)
NM_001943.5(DSG2):c.2047G>C (p.Gly683Arg)
NM_001943.5(DSG2):c.2050A>G (p.Arg684Gly)
NM_001943.5(DSG2):c.2063G>A (p.Gly688Glu)
NM_001943.5(DSG2):c.2065G>C (p.Gly689Arg)
NM_001943.5(DSG2):c.2075A>C (p.Lys692Thr)
NM_001943.5(DSG2):c.2077G>A (p.Glu693Lys) rs2144353065
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile) rs1598823943
NM_001943.5(DSG2):c.2098A>G (p.Ser700Gly)
NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)
NM_001943.5(DSG2):c.2104G>A (p.Ala702Thr) rs2144353139
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) rs794728081
NM_001943.5(DSG2):c.2124A>T (p.Gln708His)
NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del) rs778319427
NM_001943.5(DSG2):c.2139G>C (p.Glu713Asp)
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr) rs2073276150
NM_001943.5(DSG2):c.214A>G (p.Lys72Glu)
NM_001943.5(DSG2):c.216+3A>G rs774208829
NM_001943.5(DSG2):c.2166A>T (p.Arg722Ser) rs2073276336
NM_001943.5(DSG2):c.217-7dup
NM_001943.5(DSG2):c.2174T>C (p.Leu725Pro) rs960047010
NM_001943.5(DSG2):c.2178T>C (p.Ser726=) rs749897373
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) rs780650226
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu) rs772240008
NM_001943.5(DSG2):c.2215A>T (p.Ile739Phe) rs772240008
NM_001943.5(DSG2):c.2222C>T (p.Thr741Ile)
NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr) rs763994831
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser) rs763994831
NM_001943.5(DSG2):c.2263A>G (p.Arg755Gly) rs2144353569
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr) rs876657792
NM_001943.5(DSG2):c.2272G>A (p.Ala758Thr)
NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala) rs2073277829
NM_001943.5(DSG2):c.2284G>A (p.Ala762Thr) rs2144353655
NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)
NM_001943.5(DSG2):c.2296G>A (p.Ala766Thr)
NM_001943.5(DSG2):c.2303A>C (p.Asn768Thr)
NM_001943.5(DSG2):c.2308G>A (p.Glu770Lys)
NM_001943.5(DSG2):c.2327T>C (p.Phe776Ser) rs2144353836
NM_001943.5(DSG2):c.2334+2dup
NM_001943.5(DSG2):c.2353G>A (p.Glu785Lys)
NM_001943.5(DSG2):c.235G>A (p.Glu79Lys)
NM_001943.5(DSG2):c.2366A>C (p.Asn789Thr) rs2073300346
NM_001943.5(DSG2):c.2366A>G (p.Asn789Ser) rs2073300346
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu) rs2073300770
NM_001943.5(DSG2):c.238G>A (p.Glu80Lys) rs2073123125
NM_001943.5(DSG2):c.2411C>G (p.Thr804Ser)
NM_001943.5(DSG2):c.2428T>A (p.Ser810Thr) rs1555628166
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2443A>C (p.Ser815Arg) rs1227447609
NM_001943.5(DSG2):c.2444G>A (p.Ser815Asn) rs2144358945
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr) rs1284559802
NM_001943.5(DSG2):c.2459A>G (p.Glu820Gly)
NM_001943.5(DSG2):c.245G>A (p.Gly82Glu) rs756081987
NM_001943.5(DSG2):c.245G>T (p.Gly82Val) rs756081987
NM_001943.5(DSG2):c.2479G>C (p.Asp827His)
NM_001943.5(DSG2):c.2485T>A (p.Leu829Met) rs968817397
NM_001943.5(DSG2):c.2492T>C (p.Leu831Pro)
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)
NM_001943.5(DSG2):c.2507T>C (p.Leu836Pro) rs1425278506
NM_001943.5(DSG2):c.251A>G (p.Lys84Arg)
NM_001943.5(DSG2):c.2536G>T (p.Asp846Tyr) rs1226243364
NM_001943.5(DSG2):c.254T>C (p.Ile85Thr)
NM_001943.5(DSG2):c.2562A>T (p.Arg854Ser) rs1482979438
NM_001943.5(DSG2):c.2572G>T (p.Ala858Ser) rs748800693
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) rs886039011
NM_001943.5(DSG2):c.2576C>T (p.Thr859Ile) rs1445054250
NM_001943.5(DSG2):c.2581A>G (p.Thr861Ala) rs1598826621
NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr) rs1598826629
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro) rs866344768
NM_001943.5(DSG2):c.2616G>T (p.Glu872Asp)
NM_001943.5(DSG2):c.2639_2641del (p.Asn880del)
NM_001943.5(DSG2):c.2643C>A (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.2645A>C (p.Tyr882Ser) rs1555628211
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2654G>A (p.Gly885Asp)
NM_001943.5(DSG2):c.2657G>A (p.Ser886Asn) rs1454240099
NM_001943.5(DSG2):c.2669T>G (p.Val890Gly)
NM_001943.5(DSG2):c.2699A>G (p.Glu900Gly)
NM_001943.5(DSG2):c.26A>T (p.Tyr9Phe) rs2144276572
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp) rs1396387126
NM_001943.5(DSG2):c.2720T>G (p.Val907Gly) rs2073306318
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp) rs771675609
NM_001943.5(DSG2):c.2731T>C (p.Ser911Pro)
NM_001943.5(DSG2):c.2737T>C (p.Ser913Pro)
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) rs547741894
NM_001943.5(DSG2):c.2758G>C (p.Val920Leu) rs547741894
NM_001943.5(DSG2):c.276A>C (p.Lys92Asn) rs2144315629
NM_001943.5(DSG2):c.278G>A (p.Gly93Glu)
NM_001943.5(DSG2):c.2797G>T (p.Val933Leu) rs373055076
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val) rs1469730786
NM_001943.5(DSG2):c.2803G>A (p.Ala935Thr)
NM_001943.5(DSG2):c.2825C>T (p.Thr942Ile) rs771429752
NM_001943.5(DSG2):c.2830T>C (p.Ser944Pro) rs1183510455
NM_001943.5(DSG2):c.2831C>G (p.Ser944Cys)
NM_001943.5(DSG2):c.2836A>C (p.Met946Leu)
NM_001943.5(DSG2):c.2836A>G (p.Met946Val) rs770026700
NM_001943.5(DSG2):c.283A>G (p.Thr95Ala)
NM_001943.5(DSG2):c.2840C>T (p.Pro947Leu) rs2144360381
NM_001943.5(DSG2):c.2860G>T (p.Gly954Cys)
NM_001943.5(DSG2):c.2861G>A (p.Gly954Asp) rs1397270448
NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)
NM_001943.5(DSG2):c.2887G>T (p.Val963Leu)
NM_001943.5(DSG2):c.2893G>A (p.Glu965Lys) rs1326783146
NM_001943.5(DSG2):c.2908C>G (p.Pro970Ala)
NM_001943.5(DSG2):c.2914T>C (p.Ser972Pro)
NM_001943.5(DSG2):c.2914T>G (p.Ser972Ala) rs2073308983
NM_001943.5(DSG2):c.292C>T (p.Pro98Ser) rs2073123674
NM_001943.5(DSG2):c.2933C>G (p.Pro978Arg)
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys) rs781744343
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp) rs746359987
NM_001943.5(DSG2):c.2951C>G (p.Thr984Arg)
NM_001943.5(DSG2):c.2965G>C (p.Glu989Gln)
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val) rs933743259
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met) rs776686758
NM_001943.5(DSG2):c.2980C>T (p.Pro994Ser)
NM_001943.5(DSG2):c.2989G>T (p.Gly997Cys) rs1203880394
NM_001943.5(DSG2):c.2990G>A (p.Gly997Asp) rs1245395139
NM_001943.5(DSG2):c.299G>T (p.Gly100Val) rs1236559318
NM_001943.5(DSG2):c.3013A>C (p.Thr1005Pro)
NM_001943.5(DSG2):c.3018G>C (p.Gln1006His)
NM_001943.5(DSG2):c.301A>G (p.Ile101Val)
NM_001943.5(DSG2):c.3037T>C (p.Tyr1013His)
NM_001943.5(DSG2):c.3038A>C (p.Tyr1013Ser)
NM_001943.5(DSG2):c.3046G>A (p.Val1016Met) rs2073311048
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr) rs2073123855
NM_001943.5(DSG2):c.3060G>T (p.Glu1020Asp)
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3077G>A (p.Ser1026Asn)
NM_001943.5(DSG2):c.3091C>T (p.Pro1031Ser) rs2144361340
NM_001943.5(DSG2):c.3100G>T (p.Ala1034Ser) rs2144361362
NM_001943.5(DSG2):c.3116C>T (p.Ala1039Val)
NM_001943.5(DSG2):c.3123dup (p.Gln1042fs)
NM_001943.5(DSG2):c.3136G>A (p.Val1046Met)
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3142_3143del (p.Glu1048fs)
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup) rs1319078257
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3146G>T (p.Arg1049Ile)
NM_001943.5(DSG2):c.3151C>A (p.Leu1051Ile)
NM_001943.5(DSG2):c.3158C>G (p.Pro1053Arg)
NM_001943.5(DSG2):c.3160G>C (p.Ala1054Pro)
NM_001943.5(DSG2):c.3165dup (p.Thr1056fs) rs2073312554
NM_001943.5(DSG2):c.3185del (p.Gln1062fs) rs2144361650
NM_001943.5(DSG2):c.31C>G (p.Leu11Val)
NM_001943.5(DSG2):c.3213dup (p.Arg1072Ter)
NM_001943.5(DSG2):c.3226G>T (p.Val1076Leu) rs761545577
NM_001943.5(DSG2):c.3227T>C (p.Val1076Ala)
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala) rs1064795829
NM_001943.5(DSG2):c.3257C>T (p.Pro1086Leu)
NM_001943.5(DSG2):c.325G>A (p.Gly109Arg)
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg) rs2073313909
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.3295A>T (p.Thr1099Ser) rs79068489
NM_001943.5(DSG2):c.32T>G (p.Leu11Arg) rs2144276606
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) rs778884735
NM_001943.5(DSG2):c.3308C>G (p.Ser1103Cys) rs2073314462
NM_001943.5(DSG2):c.3312del (p.Thr1105fs) rs1413344418
NM_001943.5(DSG2):c.3329A>C (p.His1110Pro)
NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)
NM_001943.5(DSG2):c.3337G>C (p.Val1113Leu) rs924943447
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) rs776078563
NM_001943.5(DSG2):c.3350A>T (p.Tyr1117Phe)
NM_001943.5(DSG2):c.3357A>T (p.Ter1119Tyr) rs2144362223
NM_001943.5(DSG2):c.335A>G (p.Asn112Ser) rs2144315760
NM_001943.5(DSG2):c.344G>A (p.Ser115Asn) rs2073124006
NM_001943.5(DSG2):c.349C>A (p.Leu117Ile)
NM_001943.5(DSG2):c.367C>T (p.Pro123Ser) rs2073124113
NM_001943.5(DSG2):c.368C>T (p.Pro123Leu)
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe) rs1276147010
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys) rs2073125035
NM_001943.5(DSG2):c.391G>T (p.Ala131Ser) rs373542380
NM_001943.5(DSG2):c.399T>G (p.Asp133Glu) rs2073125147
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr) rs1005230453
NM_001943.5(DSG2):c.42_44del (p.Leu15del) rs2072994567
NM_001943.5(DSG2):c.436C>T (p.Arg146Cys)
NM_001943.5(DSG2):c.437G>A (p.Arg146His) rs113451409
NM_001943.5(DSG2):c.439A>G (p.Ile147Val) rs1316807839
NM_001943.5(DSG2):c.442_450del (p.Lys148_Leu150del) rs2073125611
NM_001943.5(DSG2):c.45+10G>T rs776975980
NM_001943.5(DSG2):c.45+5G>C rs1423214260
NM_001943.5(DSG2):c.45+6T>C rs2072994676
NM_001943.5(DSG2):c.451G>A (p.Asp151Asn) rs1598810722
NM_001943.5(DSG2):c.46-14A>G
NM_001943.5(DSG2):c.462C>A (p.Asp154Glu) rs2073125869
NM_001943.5(DSG2):c.462C>G (p.Asp154Glu)
NM_001943.5(DSG2):c.464A>G (p.Asn155Ser)
NM_001943.5(DSG2):c.478A>G (p.Thr160Ala) rs2073126133
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr) rs1478351535
NM_001943.5(DSG2):c.488T>C (p.Val163Ala)
NM_001943.5(DSG2):c.493G>A (p.Val165Ile)
NM_001943.5(DSG2):c.493G>T (p.Val165Phe)
NM_001943.5(DSG2):c.494T>C (p.Val165Ala)
NM_001943.5(DSG2):c.505G>A (p.Glu169Lys)
NM_001943.5(DSG2):c.515G>T (p.Ser172Ile)
NM_001943.5(DSG2):c.523+4A>G
NM_001943.5(DSG2):c.530T>C (p.Leu177Pro)
NM_001943.5(DSG2):c.534G>T (p.Val178=)
NM_001943.5(DSG2):c.550A>G (p.Thr184Ala) rs2073131261
NM_001943.5(DSG2):c.551C>T (p.Thr184Ile) rs372605499
NM_001943.5(DSG2):c.564_565delinsAA (p.Pro189Thr)
NM_001943.5(DSG2):c.572C>G (p.Thr191Ser) rs1555671315
NM_001943.5(DSG2):c.586A>G (p.Ile196Val) rs1422826393
NM_001943.5(DSG2):c.590C>G (p.Ser197Cys)
NM_001943.5(DSG2):c.601G>A (p.Val201Ile) rs184100321
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>G (p.Thr226Ser)
NM_001943.5(DSG2):c.680T>C (p.Leu227Ser)
NM_001943.5(DSG2):c.691-5T>A
NM_001943.5(DSG2):c.697A>G (p.Ser233Gly) rs2073148481
NM_001943.5(DSG2):c.719A>C (p.Glu240Ala) rs2073148766
NM_001943.5(DSG2):c.721G>C (p.Ala241Pro)
NM_001943.5(DSG2):c.734A>G (p.Asn245Ser) rs1568106586
NM_001943.5(DSG2):c.748G>C (p.Asp250His)
NM_001943.5(DSG2):c.748G>T (p.Asp250Tyr) rs1459918321
NM_001943.5(DSG2):c.756T>G (p.Pro252=)
NM_001943.5(DSG2):c.772G>T (p.Val258Phe) rs1060502865
NM_001943.5(DSG2):c.784A>G (p.Ile262Val) rs2073149359
NM_001943.5(DSG2):c.794T>A (p.Val265Asp)
NM_001943.5(DSG2):c.7C>G (p.Arg3Gly)
NM_001943.5(DSG2):c.800A>G (p.Asp267Gly)
NM_001943.5(DSG2):c.803A>T (p.Asn268Ile) rs942590973
NM_001943.5(DSG2):c.81+16_81+17delinsTG rs2144311694
NM_001943.5(DSG2):c.81+5_81+6del
NM_001943.5(DSG2):c.812_813insCAT (p.Val271_Val272insIle)
NM_001943.5(DSG2):c.818A>C (p.Glu273Ala)
NM_001943.5(DSG2):c.81G>A (p.Gln27=) rs2144311636
NM_001943.5(DSG2):c.82-13T>G
NM_001943.5(DSG2):c.828+13C>A rs180926981
NM_001943.5(DSG2):c.828_828+2del rs786204292
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.838A>G (p.Met280Val)
NM_001943.5(DSG2):c.839T>C (p.Met280Thr) rs1002445324
NM_001943.5(DSG2):c.844GAA[1] (p.Glu283del) rs1365781004
NM_001943.5(DSG2):c.856G>A (p.Val286Ile) rs1568106749
NM_001943.5(DSG2):c.861_862delinsTC (p.Val288Leu) rs2144322697
NM_001943.5(DSG2):c.863T>G (p.Val288Gly)
NM_001943.5(DSG2):c.869T>G (p.Val290Gly) rs2144322727
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.87A>T (p.Leu29Phe)
NM_001943.5(DSG2):c.881A>T (p.Lys294Ile) rs1168649465
NM_001943.5(DSG2):c.890A>T (p.Asp297Val) rs1418275138
NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del) rs1331118515
NM_001943.5(DSG2):c.904G>A (p.Gly302Ser) rs1402723514
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp) rs1338174918
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser) rs2073152820
NM_001943.5(DSG2):c.916T>C (p.Trp306Arg)
NM_001943.5(DSG2):c.920T>G (p.Leu307Arg)
NM_001943.5(DSG2):c.934T>C (p.Phe312Leu)
NM_001943.5(DSG2):c.955G>A (p.Gly319Ser) rs1064796086
NM_001943.5(DSG2):c.95G>A (p.Arg32Lys)
NM_001943.5(DSG2):c.967A>G (p.Ile323Val) rs886039096
NM_001943.5(DSG2):c.968T>C (p.Ile323Thr)
NM_001943.5(DSG2):c.968T>G (p.Ile323Arg) rs370140174
NM_001943.5(DSG2):c.972A>C (p.Glu324Asp)
NM_001943.5(DSG2):c.983A>C (p.Gln328Pro)
NM_001943.5(DSG2):c.983A>G (p.Gln328Arg)
NM_001943.5(DSG2):c.988A>G (p.Asn330Asp) rs1410479706
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_001943.5(DSG2):c.994G>A (p.Gly332Arg)

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