NM_000218.3(KCNQ1):c.1685+36A>G
|
rs163150
|
0.65861
|
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)
|
rs1057128
|
0.16286
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_001005242.3(PKP2):c.968_969del (p.Gln323fs)
|
rs745882420
|
0.00006
|
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)
|
rs763004638
|
0.00003
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_001943.5(DSG2):c.1014+7A>G
|
rs756562276
|
0.00002
|
NM_002230.4(JUP):c.*19G>A
|
rs782012233
|
0.00002
|
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys)
|
rs770911263
|
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.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln)
|
rs753962384
|
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.1876G>A (p.Gly626Ser)
|
rs199472821
|
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
|
NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu)
|
rs1649395606
|
0.00001
|
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser)
|
rs1299197961
|
0.00001
|
NM_001943.5(DSG2):c.82-1G>A
|
rs746353565
|
0.00001
|
NC_000011.9:g.(?_2683186)_(2683314_?)del
|
|
|
NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)
|
|
|
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.1109C>A (p.Ala370Glu)
|
rs775362401
|
|
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)
|
rs1564825414
|
|
NM_000218.3(KCNQ1):c.1128+4dup
|
|
|
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.1487del (p.Leu496fs)
|
|
|
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.1772G>T (p.Arg591Leu)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.1794+1G>A
|
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.387-1G>C
|
|
|
NM_000218.3(KCNQ1):c.398del (p.Val133fs)
|
|
|
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)
|
rs199472693
|
|
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.584_604+46del
|
|
|
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.785T>A (p.Leu262Gln)
|
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser)
|
rs765665086
|
|
NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)
|
|
|
NM_000218.3(KCNQ1):c.921+1G>A
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile)
|
rs199472746
|
|
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.337-5T>G
|
rs2137951361
|
|
NM_001005242.3(PKP2):c.861del (p.Arg287fs)
|
rs2137947261
|
|
NM_001005242.3(PKP2):c.938del (p.Ser313fs)
|
rs2137946556
|
|
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)
|
rs1374577335
|
|
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys)
|
rs1299849256
|
|
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu)
|
rs2149404327
|
|
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu)
|
rs1278512393
|
|
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr)
|
rs1194621692
|
|
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys)
|
rs1057518518
|
|
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile)
|
rs2148667252
|
|
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp)
|
rs2148728656
|
|
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys)
|
rs1683039143
|
|
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu)
|
rs776621043
|
|
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn)
|
rs2148846582
|
|
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs)
|
rs754133577
|
|
NM_001943.5(DSG2):c.323C>G (p.Thr108Ser)
|
rs1284705376
|
|
NM_001943.5(DSG2):c.829-3C>A
|
rs1295936995
|
|
NM_002230.4(JUP):c.1408G>A (p.Glu470Lys)
|
rs1555602080
|
|
NM_002230.4(JUP):c.708-3C>A
|
rs1555604620
|
|
NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln)
|
rs1288935716
|
|
NM_004415.4(DSP):c.1627A>C (p.Asn543His)
|
rs917602533
|
|
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)
|
rs767885673
|
|
NM_004415.4(DSP):c.5380-1G>A
|
rs1759474600
|
|
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer)
|
rs2113699280
|
|
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val)
|
rs2113699658
|
|
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs)
|
rs2113701771
|
|
NM_004415.4(DSP):c.793_794del (p.Arg265fs)
|
rs2113669181
|
|
NM_024334.3(TMEM43):c.584-4T>A
|
rs2124990773
|
|
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter)
|
rs887847751
|
|
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys)
|
rs180863872
|
|
NM_024422.6(DSC2):c.2251-3C>T
|
rs2144784605
|
|
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs)
|
rs2144839173
|
|
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly)
|
rs2144833773
|
|