NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)
|
rs199472763
|
0.00001
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
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.477+5G>A
|
rs397508111
|
0.00001
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)
|
rs199473399
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
NC_000011.9:g.(?_2683186)_(2683314_?)del
|
|
|
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1032+5G>A
|
rs397508071
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del)
|
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)
|
rs1564825414
|
|
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)
|
rs199472771
|
|
NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs)
|
|
|
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)
|
rs199472791
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.398del (p.Val133fs)
|
|
|
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)
|
rs199473457
|
|
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs)
|
rs1060500626
|
|
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.921+1G>A
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)
|
rs120074184
|
|
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs)
|
rs1956690062
|
|
NM_001005242.3(PKP2):c.1755del (p.Asn585fs)
|
rs2137777604
|
|
NM_001005242.3(PKP2):c.1904del (p.His635fs)
|
rs2137773640
|
|
NM_001005242.3(PKP2):c.861del (p.Arg287fs)
|
rs2137947261
|
|
NM_001005242.3(PKP2):c.938del (p.Ser313fs)
|
rs2137946556
|
|
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu)
|
rs2149404327
|
|
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs)
|
rs754133577
|
|
NM_004415.4(DSP):c.5380-1G>A
|
rs1759474600
|
|
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer)
|
rs2113699280
|
|
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs)
|
rs2113701771
|
|
NM_004415.4(DSP):c.793_794del (p.Arg265fs)
|
rs2113669181
|
|
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter)
|
rs887847751
|
|
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs)
|
rs2144839173
|
|