NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn)
|
rs148525631
|
0.00143
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00082
|
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr)
|
rs115877658
|
0.00056
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00037
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_020549.5(CHAT):c.858C>T (p.Thr286=)
|
rs200423662
|
0.00024
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
NM_020549.5(CHAT):c.1511+5G>A
|
rs371888779
|
0.00022
|
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
|
rs142285373
|
0.00016
|
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln)
|
rs200335347
|
0.00015
|
NM_020549.5(CHAT):c.740C>T (p.Ala247Val)
|
rs561562136
|
0.00013
|
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln)
|
rs201616704
|
0.00011
|
NM_020549.5(CHAT):c.1382T>C (p.Val461Ala)
|
rs918273981
|
0.00011
|
NM_020549.5(CHAT):c.1977+4C>T
|
rs200116201
|
0.00011
|
NM_020549.5(CHAT):c.866C>T (p.Thr289Met)
|
rs139352363
|
0.00011
|
NM_020549.5(CHAT):c.119G>T (p.Gly40Val)
|
rs776411377
|
0.00010
|
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met)
|
rs538478136
|
0.00010
|
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu)
|
rs977117524
|
0.00010
|
NM_020549.5(CHAT):c.1635-3C>G
|
rs761868634
|
0.00009
|
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys)
|
rs147815999
|
0.00009
|
NM_020549.5(CHAT):c.326C>T (p.Thr109Met)
|
rs542610160
|
0.00008
|
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)
|
rs757733319
|
0.00007
|
NM_020549.5(CHAT):c.1375A>G (p.Lys459Glu)
|
rs769398642
|
0.00006
|
NM_020549.5(CHAT):c.1460G>T (p.Cys487Phe)
|
rs201293521
|
0.00006
|
NM_020549.5(CHAT):c.1814G>A (p.Arg605His)
|
rs199926163
|
0.00006
|
NM_020549.5(CHAT):c.580-5G>A
|
rs763339825
|
0.00006
|
NM_020549.5(CHAT):c.929A>G (p.Asn310Ser)
|
rs149976821
|
0.00006
|
NM_020549.5(CHAT):c.1142T>C (p.Ile381Thr)
|
rs372758559
|
0.00005
|
NM_020549.5(CHAT):c.1423A>T (p.Ser475Cys)
|
rs765549293
|
0.00005
|
NM_020549.5(CHAT):c.2139A>C (p.Glu713Asp)
|
rs771548584
|
0.00005
|
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys)
|
rs778837182
|
0.00004
|
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
|
rs779668516
|
0.00004
|
NM_020549.5(CHAT):c.1105G>A (p.Val369Met)
|
rs769754418
|
0.00004
|
NM_020549.5(CHAT):c.1735G>A (p.Ala579Thr)
|
rs750002983
|
0.00004
|
NM_020549.5(CHAT):c.1771G>A (p.Val591Met)
|
rs201485243
|
0.00004
|
NM_020549.5(CHAT):c.1977+5G>A
|
rs780449243
|
0.00004
|
NM_020549.5(CHAT):c.374G>A (p.Ser125Asn)
|
rs756138129
|
0.00004
|
NM_020549.5(CHAT):c.1550A>C (p.Asp517Ala)
|
rs1368752304
|
0.00003
|
NM_020549.5(CHAT):c.1635-5C>A
|
rs776745899
|
0.00003
|
NM_020549.5(CHAT):c.1675A>G (p.Ile559Val)
|
rs202040717
|
0.00003
|
NM_020549.5(CHAT):c.181C>T (p.Pro61Ser)
|
rs923971969
|
0.00003
|
NM_020549.5(CHAT):c.1895G>A (p.Arg632Gln)
|
rs758448736
|
0.00003
|
NM_020549.5(CHAT):c.2219C>T (p.Thr740Met)
|
rs755783618
|
0.00003
|
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys)
|
rs1056302745
|
0.00003
|
NM_020549.5(CHAT):c.314G>C (p.Gly105Ala)
|
rs149711635
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020549.5(CHAT):c.1148G>A (p.Arg383His)
|
rs779919147
|
0.00002
|
NM_020549.5(CHAT):c.1186G>A (p.Val396Met)
|
rs536359684
|
0.00002
|
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)
|
rs115964813
|
0.00002
|
NM_020549.5(CHAT):c.157G>A (p.Gly53Arg)
|
rs968331105
|
0.00002
|
NM_020549.5(CHAT):c.1661A>G (p.Tyr554Cys)
|
rs778572568
|
0.00002
|
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val)
|
rs190968891
|
0.00002
|
NM_020549.5(CHAT):c.1840-9A>G
|
rs1279554995
|
0.00002
|
NM_020549.5(CHAT):c.2185G>A (p.Glu729Lys)
|
rs751461280
|
0.00002
|
NM_020549.5(CHAT):c.230A>G (p.His77Arg)
|
rs1158850299
|
0.00002
|
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser)
|
rs1429339523
|
0.00002
|
NM_020549.5(CHAT):c.387T>C (p.Ser129=)
|
rs143723043
|
0.00002
|
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser)
|
rs1323843750
|
0.00002
|
NM_020549.5(CHAT):c.707C>T (p.Ala236Val)
|
rs770250348
|
0.00002
|
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr)
|
rs1373162548
|
0.00002
|
NM_020549.5(CHAT):c.92T>G (p.Val31Gly)
|
rs1016283273
|
0.00002
|
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp)
|
rs1464103196
|
0.00002
|
NM_020549.5(CHAT):c.1025A>G (p.Asn342Ser)
|
rs781745178
|
0.00001
|
NM_020549.5(CHAT):c.1033G>A (p.Glu345Lys)
|
rs200776329
|
0.00001
|
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr)
|
rs1004933171
|
0.00001
|
NM_020549.5(CHAT):c.1144G>C (p.Glu382Gln)
|
rs1463880522
|
0.00001
|
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln)
|
rs1049061686
|
0.00001
|
NM_020549.5(CHAT):c.1211C>T (p.Ala404Val)
|
rs192592698
|
0.00001
|
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser)
|
rs749948399
|
0.00001
|
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn)
|
rs759707536
|
0.00001
|
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg)
|
rs1423177834
|
0.00001
|
NM_020549.5(CHAT):c.1282-3C>T
|
rs1373606481
|
0.00001
|
NM_020549.5(CHAT):c.1282-6T>C
|
rs771457200
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1360A>G (p.Thr454Ala)
|
rs745938985
|
0.00001
|
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln)
|
rs774834313
|
0.00001
|
NM_020549.5(CHAT):c.1420G>A (p.Val474Ile)
|
rs371719364
|
0.00001
|
NM_020549.5(CHAT):c.1466C>T (p.Pro489Leu)
|
rs764921945
|
0.00001
|
NM_020549.5(CHAT):c.1490C>T (p.Ser497Phe)
|
rs141878259
|
0.00001
|
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln)
|
rs141881680
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.1696C>T (p.Arg566Cys)
|
rs368957556
|
0.00001
|
NM_020549.5(CHAT):c.1750G>A (p.Val584Met)
|
rs547073881
|
0.00001
|
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val)
|
rs1313042835
|
0.00001
|
NM_020549.5(CHAT):c.176C>T (p.Pro59Leu)
|
rs766916844
|
0.00001
|
NM_020549.5(CHAT):c.1801A>G (p.Lys601Glu)
|
rs1399092731
|
0.00001
|
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn)
|
rs1178039732
|
0.00001
|
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn)
|
rs773228076
|
0.00001
|
NM_020549.5(CHAT):c.1880T>C (p.Leu627Pro)
|
rs775066227
|
0.00001
|
NM_020549.5(CHAT):c.2004C>G (p.Cys668Trp)
|
rs1156904329
|
0.00001
|
NM_020549.5(CHAT):c.205C>A (p.Pro69Thr)
|
rs924554606
|
0.00001
|
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr)
|
rs1419018923
|
0.00001
|
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp)
|
rs1840309929
|
0.00001
|
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile)
|
rs1268273103
|
0.00001
|
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu)
|
rs867343616
|
0.00001
|
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)
|
rs1384661323
|
0.00001
|
NM_020549.5(CHAT):c.244T>G (p.Cys82Gly)
|
rs1330484583
|
0.00001
|
NM_020549.5(CHAT):c.316C>T (p.Leu106Phe)
|
rs776042082
|
0.00001
|
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu)
|
rs557059182
|
0.00001
|
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser)
|
rs757480104
|
0.00001
|
NM_020549.5(CHAT):c.540G>C (p.Gln180His)
|
rs200143133
|
0.00001
|
NM_020549.5(CHAT):c.619C>T (p.Arg207Cys)
|
rs760936252
|
0.00001
|
NM_020549.5(CHAT):c.652G>A (p.Val218Met)
|
rs751863010
|
0.00001
|
NM_020549.5(CHAT):c.719C>T (p.Ser240Phe)
|
rs1269023544
|
0.00001
|
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys)
|
rs1186633197
|
0.00001
|
NM_020549.5(CHAT):c.84G>T (p.Arg28Ser)
|
rs745753124
|
0.00001
|
NM_020549.5(CHAT):c.916G>A (p.Val306Ile)
|
rs551219437
|
0.00001
|
NM_020549.5(CHAT):c.965G>A (p.Arg322His)
|
rs906626657
|
0.00001
|
NC_000010.10:g.(?_50821083)_(50874150_?)dup
|
|
|
NC_000010.10:g.(?_50822226)_(50873102_?)dup
|
|
|
NM_020549.5(CHAT):c.1009G>C (p.Val337Leu)
|
rs1462079971
|
|
NM_020549.5(CHAT):c.1026C>A (p.Asn342Lys)
|
|
|
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu)
|
rs1411738057
|
|
NM_020549.5(CHAT):c.1069G>T (p.Gly357Trp)
|
rs61731735
|
|
NM_020549.5(CHAT):c.1078G>A (p.Glu360Lys)
|
|
|
NM_020549.5(CHAT):c.1097C>A (p.Thr366Lys)
|
rs533289708
|
|
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met)
|
rs533289708
|
|
NM_020549.5(CHAT):c.1145A>G (p.Glu382Gly)
|
rs2132799619
|
|
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro)
|
rs779919147
|
|
NM_020549.5(CHAT):c.1155C>G (p.Ile385Met)
|
rs1209379806
|
|
NM_020549.5(CHAT):c.1162G>C (p.Val388Leu)
|
rs747366078
|
|
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser)
|
|
|
NM_020549.5(CHAT):c.1198G>C (p.Asp400His)
|
rs8178991
|
|
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp)
|
rs1441347177
|
|
NM_020549.5(CHAT):c.122G>C (p.Gly41Ala)
|
rs1441347177
|
|
NM_020549.5(CHAT):c.1281+6C>T
|
rs745923819
|
|
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala)
|
rs1839755600
|
|
NM_020549.5(CHAT):c.1289T>C (p.Val430Ala)
|
|
|
NM_020549.5(CHAT):c.1291G>T (p.Gly431Cys)
|
rs1554807467
|
|
NM_020549.5(CHAT):c.1295G>A (p.Arg432Gln)
|
|
|
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser)
|
rs562560467
|
|
NM_020549.5(CHAT):c.1313T>C (p.Val438Ala)
|
|
|
NM_020549.5(CHAT):c.1360A>T (p.Thr454Ser)
|
rs745938985
|
|
NM_020549.5(CHAT):c.1381G>T (p.Val461Leu)
|
rs4838544
|
|
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
|
|
|
NM_020549.5(CHAT):c.1383G>A (p.Val461=)
|
|
|
NM_020549.5(CHAT):c.1408C>G (p.Arg470Gly)
|
|
|
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro)
|
rs774834313
|
|
NM_020549.5(CHAT):c.1414G>A (p.Asp472Asn)
|
rs2132811983
|
|
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu)
|
rs371719364
|
|
NM_020549.5(CHAT):c.1425C>A (p.Ser475Arg)
|
rs553771451
|
|
NM_020549.5(CHAT):c.1426G>A (p.Glu476Lys)
|
|
|
NM_020549.5(CHAT):c.1435G>A (p.Ala479Thr)
|
|
|
NM_020549.5(CHAT):c.1435G>C (p.Ala479Pro)
|
rs3793795
|
|
NM_020549.5(CHAT):c.1436C>T (p.Ala479Val)
|
rs1319866298
|
|
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg)
|
rs1839799283
|
|
NM_020549.5(CHAT):c.1441C>T (p.Arg481Trp)
|
rs751583653
|
|
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp)
|
rs778801148
|
|
NM_020549.5(CHAT):c.1459T>A (p.Cys487Ser)
|
|
|
NM_020549.5(CHAT):c.146dup (p.Gly50fs)
|
rs1838395196
|
|
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val)
|
rs1180007688
|
|
NM_020549.5(CHAT):c.1481A>C (p.His494Pro)
|
rs1247659665
|
|
NM_020549.5(CHAT):c.1490C>A (p.Ser497Tyr)
|
rs141878259
|
|
NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_020549.5(CHAT):c.1544A>T (p.Lys515Met)
|
|
|
NM_020549.5(CHAT):c.156_157insA (p.Gly53fs)
|
|
|
NM_020549.5(CHAT):c.157G>C (p.Gly53Arg)
|
rs968331105
|
|
NM_020549.5(CHAT):c.1597G>A (p.Ala533Thr)
|
|
|
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val)
|
rs1839894638
|
|
NM_020549.5(CHAT):c.1651G>C (p.Val551Leu)
|
rs1564493573
|
|
NM_020549.5(CHAT):c.1652T>G (p.Val551Gly)
|
rs1554808432
|
|
NM_020549.5(CHAT):c.166G>C (p.Gly56Arg)
|
|
|
NM_020549.5(CHAT):c.1697G>A (p.Arg566His)
|
rs1411285839
|
|
NM_020549.5(CHAT):c.1699G>A (p.Val567Met)
|
|
|
NM_020549.5(CHAT):c.1700T>C (p.Val567Ala)
|
rs1839994676
|
|
NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del)
|
|
|
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val)
|
rs1839995687
|
|
NM_020549.5(CHAT):c.1727A>T (p.Glu576Val)
|
|
|
NM_020549.5(CHAT):c.1777G>A (p.Ala593Thr)
|
|
|
NM_020549.5(CHAT):c.178C>T (p.His60Tyr)
|
|
|
NM_020549.5(CHAT):c.1795C>T (p.Leu599Phe)
|
|
|
NM_020549.5(CHAT):c.181C>A (p.Pro61Thr)
|
rs923971969
|
|
NM_020549.5(CHAT):c.1822A>T (p.Thr608Ser)
|
|
|
NM_020549.5(CHAT):c.1834G>C (p.Val612Leu)
|
|
|
NM_020549.5(CHAT):c.1835T>C (p.Val612Ala)
|
rs1840006246
|
|
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr)
|
rs1840006355
|
|
NM_020549.5(CHAT):c.1839+3G>A
|
rs1840006511
|
|
NM_020549.5(CHAT):c.1843A>G (p.Ile615Val)
|
rs759151717
|
|
NM_020549.5(CHAT):c.1858A>C (p.Ile620Leu)
|
|
|
NM_020549.5(CHAT):c.1859T>G (p.Ile620Ser)
|
rs2132852411
|
|
NM_020549.5(CHAT):c.1863C>A (p.Asp621Glu)
|
|
|
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp)
|
rs116097791
|
|
NM_020549.5(CHAT):c.1888C>G (p.Leu630Val)
|
|
|
NM_020549.5(CHAT):c.188C>T (p.Ala63Val)
|
|
|
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val)
|
rs765840442
|
|
NM_020549.5(CHAT):c.1918G>A (p.Glu640Lys)
|
rs774403163
|
|
NM_020549.5(CHAT):c.1935A>C (p.Glu645Asp)
|
rs775011277
|
|
NM_020549.5(CHAT):c.1943T>C (p.Leu648Pro)
|
rs1242281029
|
|
NM_020549.5(CHAT):c.1946T>G (p.Met649Arg)
|
|
|
NM_020549.5(CHAT):c.1963C>T (p.Leu655Phe)
|
rs1394460049
|
|
NM_020549.5(CHAT):c.1964T>C (p.Leu655Pro)
|
rs2132852977
|
|
NM_020549.5(CHAT):c.196C>A (p.Arg66Ser)
|
|
|
NM_020549.5(CHAT):c.1978-20T>C
|
|
|
NM_020549.5(CHAT):c.1995G>T (p.Glu665Asp)
|
|
|
NM_020549.5(CHAT):c.1997T>C (p.Met666Thr)
|
rs1485449042
|
|
NM_020549.5(CHAT):c.2039C>T (p.Ala680Val)
|
|
|
NM_020549.5(CHAT):c.2059G>C (p.Glu687Gln)
|
|
|
NM_020549.5(CHAT):c.206C>A (p.Pro69His)
|
rs1283840204
|
|
NM_020549.5(CHAT):c.208del (p.Leu70fs)
|
rs1838400244
|
|
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del)
|
rs750942168
|
|
NM_020549.5(CHAT):c.2108C>T (p.Ser703Phe)
|
rs1316112613
|
|
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg)
|
rs1286894680
|
|
NM_020549.5(CHAT):c.212C>A (p.Pro71Gln)
|
rs1180855605
|
|
NM_020549.5(CHAT):c.2180C>A (p.Pro727His)
|
rs1554809701
|
|
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg)
|
rs1840309085
|
|
NM_020549.5(CHAT):c.220A>G (p.Thr74Ala)
|
rs1554801418
|
|
NM_020549.5(CHAT):c.2219C>A (p.Thr740Lys)
|
|
|
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile)
|
rs1840310830
|
|
NM_020549.5(CHAT):c.2238C>A (p.His746Gln)
|
rs1234288422
|
|
NM_020549.5(CHAT):c.224C>T (p.Pro75Leu)
|
|
|
NM_020549.5(CHAT):c.232A>C (p.Thr78Pro)
|
rs1217500618
|
|
NM_020549.5(CHAT):c.238G>C (p.Glu80Gln)
|
rs756348058
|
|
NM_020549.5(CHAT):c.246C>A (p.Cys82Ter)
|
rs1409154681
|
|
NM_020549.5(CHAT):c.24G>T (p.Lys8Asn)
|
rs1444707075
|
|
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser)
|
rs1338798480
|
|
NM_020549.5(CHAT):c.254C>G (p.Ala85Gly)
|
rs1564469074
|
|
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln)
|
rs372298555
|
|
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg)
|
rs372298555
|
|
NM_020549.5(CHAT):c.279G>C (p.Arg93Ser)
|
|
|
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly)
|
rs1838405822
|
|
NM_020549.5(CHAT):c.286+1G>T
|
|
|
NM_020549.5(CHAT):c.287-2A>G
|
|
|
NM_020549.5(CHAT):c.287G>T (p.Gly96Val)
|
rs1349499470
|
|
NM_020549.5(CHAT):c.311C>T (p.Pro104Leu)
|
rs2132701987
|
|
NM_020549.5(CHAT):c.314G>T (p.Gly105Val)
|
|
|
NM_020549.5(CHAT):c.335T>G (p.Leu112Arg)
|
|
|
NM_020549.5(CHAT):c.349del (p.Arg117fs)
|
rs1198717023
|
|
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu)
|
rs770749789
|
|
NM_020549.5(CHAT):c.387T>A (p.Ser129=)
|
rs143723043
|
|
NM_020549.5(CHAT):c.413C>A (p.Pro138Gln)
|
rs557059182
|
|
NM_020549.5(CHAT):c.419A>C (p.Gln140Pro)
|
|
|
NM_020549.5(CHAT):c.43G>A (p.Gly15Arg)
|
rs1838388018
|
|
NM_020549.5(CHAT):c.45del (p.Lys16fs)
|
rs1838387913
|
|
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr)
|
rs1838634644
|
|
NM_020549.5(CHAT):c.463T>C (p.Ser155Pro)
|
rs1838634644
|
|
NM_020549.5(CHAT):c.484A>G (p.Ser162Gly)
|
rs1195682323
|
|
NM_020549.5(CHAT):c.486C>A (p.Ser162Arg)
|
rs2132710676
|
|
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser)
|
rs776499844
|
|
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn)
|
rs1838636916
|
|
NM_020549.5(CHAT):c.512C>T (p.Ala171Val)
|
|
|
NM_020549.5(CHAT):c.520G>A (p.Gly174Ser)
|
|
|
NM_020549.5(CHAT):c.547C>A (p.Leu183Ile)
|
|
|
NM_020549.5(CHAT):c.547C>T (p.Leu183Phe)
|
rs746030420
|
|
NM_020549.5(CHAT):c.548T>C (p.Leu183Pro)
|
|
|
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln)
|
rs747996335
|
|
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro)
|
rs747996335
|
|
NM_020549.5(CHAT):c.55A>G (p.Arg19Gly)
|
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_020549.5(CHAT):c.614A>G (p.Asn205Ser)
|
rs2132712941
|
|
NM_020549.5(CHAT):c.640T>G (p.Ser214Ala)
|
rs1378520155
|
|
NM_020549.5(CHAT):c.662C>T (p.Ala221Val)
|
|
|
NM_020549.5(CHAT):c.693G>C (p.Gln231His)
|
rs1838671242
|
|
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer)
|
rs1838384543
|
|
NM_020549.5(CHAT):c.712C>G (p.Leu238Val)
|
|
|
NM_020549.5(CHAT):c.715A>G (p.Ile239Val)
|
|
|
NM_020549.5(CHAT):c.764C>T (p.Pro255Leu)
|
rs2132727930
|
|
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile)
|
rs754977595
|
|
NM_020549.5(CHAT):c.769G>A (p.Asp257Asn)
|
rs1564475567
|
|
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn)
|
rs2132727991
|
|
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser)
|
rs1838884383
|
|
NM_020549.5(CHAT):c.782G>A (p.Gly261Asp)
|
rs2132728015
|
|
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu)
|
rs749662741
|
|
NM_020549.5(CHAT):c.806G>T (p.Cys269Phe)
|
|
|
NM_020549.5(CHAT):c.818A>G (p.Tyr273Cys)
|
|
|
NM_020549.5(CHAT):c.82A>G (p.Arg28Gly)
|
|
|
NM_020549.5(CHAT):c.844C>T (p.Leu282Phe)
|
|
|
NM_020549.5(CHAT):c.847C>G (p.Pro283Ala)
|
|
|
NM_020549.5(CHAT):c.850G>A (p.Gly284Ser)
|
|
|
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser)
|
rs1231575273
|
|
NM_020549.5(CHAT):c.869T>C (p.Leu290Pro)
|
|
|
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys)
|
rs1838390973
|
|
NM_020549.5(CHAT):c.883A>G (p.Ser295Gly)
|
rs1473934667
|
|
NM_020549.5(CHAT):c.895C>T (p.Pro299Ser)
|
|
|
NM_020549.5(CHAT):c.916G>C (p.Val306Leu)
|
rs551219437
|
|
NM_020549.5(CHAT):c.91G>A (p.Val31Met)
|
|
|
NM_020549.5(CHAT):c.920C>G (p.Ala307Gly)
|
rs748250869
|
|
NM_020549.5(CHAT):c.92T>A (p.Val31Glu)
|
rs1016283273
|
|
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys)
|
rs771938918
|
|
NM_020549.5(CHAT):c.973A>G (p.Ser325Gly)
|
rs1838968738
|
|
NM_020549.5(CHAT):c.976G>A (p.Glu326Lys)
|
rs906778274
|
|
NM_020549.5(CHAT):c.989T>C (p.Phe330Ser)
|
rs1554804021
|
|