NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
|
rs120074190
|
0.00006
|
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)
|
rs199472709
|
0.00003
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)
|
rs120074196
|
0.00001
|
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)
|
rs120074186
|
0.00001
|
KCNQ1, IVS1
|
|
|
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)
|
rs397508068
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)
|
rs1554958045
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1534del (p.Ala512fs)
|
rs1554919471
|
|
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs)
|
rs397515637
|
|
NM_000218.3(KCNQ1):c.1732+5del
|
rs1554920833
|
|
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1795-2A>G
|
rs867564993
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)
|
rs397508110
|
|
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)
|
rs1554893092
|
|
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)
|
rs397508125
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.921+1G>T
|
rs397508130
|
|