|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
|
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro)
|
rs121912820
|
0.00011
|
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
|
NM_020549.5(CHAT):c.1840-9A>G
|
rs1279554995
|
0.00002
|
|
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)
|
rs121912822
|
0.00001
|
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
|
NM_020549.5(CHAT):c.1493C>T (p.Ser498Leu)
|
rs121912821
|
0.00001
|
|
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)
|
rs371470622
|
0.00001
|
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
rs121912817
|
0.00001
|
|
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)
|
rs369251527
|
0.00001
|
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
|
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)
|
rs1458796820
|
0.00001
|
|
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)
|
rs201439531
|
0.00001
|
|
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)
|
rs121912815
|
0.00001
|
|
NC_000010.10:g.(?_50821083)_(50874150_?)del
|
|
|
|
NC_000010.10:g.(?_50854637)_(50864625_?)del
|
|
|
|
NC_000010.10:g.(?_50856533)_(50857702_?)del
|
|
|
|
NC_000010.10:g.(?_50872803)_(50873092_?)del
|
|
|
|
NC_000010.11:g.(?_49614170)_(49665066_?)del
|
|
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
|
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)
|
rs121912823
|
|
|
NM_020549.5(CHAT):c.1027G>T (p.Glu343Ter)
|
|
|
|
NM_020549.5(CHAT):c.1058_1061dup (p.Ser355fs)
|
|
|
|
NM_020549.5(CHAT):c.1110_1111delAG (p.Asp371fs)
|
|
|
|
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
|
|
|
|
NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser)
|
|
|
|
NM_020549.5(CHAT):c.1263G>A (p.Trp421Ter)
|
|
|
|
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)
|
|
|
|
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
|
|
|
|
NM_020549.5(CHAT):c.1408C>T (p.Arg470Ter)
|
rs142889639
|
|
|
NM_020549.5(CHAT):c.1435del (p.Ala479fs)
|
|
|
|
NM_020549.5(CHAT):c.1438_1444del (p.Pro480fs)
|
|
|
|
NM_020549.5(CHAT):c.1441del (p.Arg481fs)
|
|
|
|
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
|
|
|
|
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)
|
rs121912818
|
|
|
NM_020549.5(CHAT):c.1444dup (p.Arg482fs)
|
|
|
|
NM_020549.5(CHAT):c.1455G>A (p.Trp485Ter)
|
|
|
|
NM_020549.5(CHAT):c.1539_1542del (p.Tyr514fs)
|
|
|
|
NM_020549.5(CHAT):c.1542T>A (p.Tyr514Ter)
|
|
|
|
NM_020549.5(CHAT):c.1620dup (p.Leu541fs)
|
rs2132820703
|
|
|
NM_020549.5(CHAT):c.1641_1642delinsCT (p.Arg548Ter)
|
|
|
|
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)
|
rs757303526
|
|
|
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp)
|
rs753652169
|
|
|
NM_020549.5(CHAT):c.1775dup (p.Ala593fs)
|
|
|
|
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
|
|
|
|
NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr)
|
|
|
|
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs)
|
rs2132852540
|
|
|
NM_020549.5(CHAT):c.1897del (p.Ala633fs)
|
|
|
|
NM_020549.5(CHAT):c.1905C>A (p.Cys635Ter)
|
|
|
|
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter)
|
rs777684375
|
|
|
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter)
|
rs794727516
|
|
|
NM_020549.5(CHAT):c.447C>A (p.Cys149Ter)
|
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
|
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter)
|
rs1838635016
|
|
|
NM_020549.5(CHAT):c.476_477delinsAG (p.Phe159Ter)
|
rs1838635262
|
|
|
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)
|
rs1404321683
|
|
|
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
|
|
|
|
NM_020549.5(CHAT):c.619del (p.Arg207fs)
|
|
|
|
NM_020549.5(CHAT):c.669del (p.Gln223fs)
|
rs1554802808
|
|
|
NM_020549.5(CHAT):c.743_744dup (p.Leu249fs)
|
|
|
|
NM_020549.5(CHAT):c.880_884del (p.Asn294fs)
|
|
|
|
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr)
|
rs75466054
|
|
|
NM_020549.5(CHAT):c.951del (p.Val318fs)
|
rs2132735050
|
|
|
NM_020549.5(CHAT):c.982del (p.Asp328fs)
|
rs1590576560
|
|