NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
NM_000335.5(SCN5A):c.4015G>A (p.Val1339Ile)
|
rs199473605
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
|
rs199473083
|
0.00002
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)
|
rs199473097
|
0.00001
|
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)
|
rs28937318
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)
|
rs199473172
|
0.00001
|
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)
|
rs137854618
|
0.00001
|
NM_000335.5(SCN5A):c.3837+1G>A
|
rs1366120635
|
0.00001
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
0.00001
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter)
|
rs199473284
|
0.00001
|
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln)
|
rs199473623
|
0.00001
|
NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys)
|
rs878855292
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter)
|
rs761505217
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)
|
rs199473305
|
0.00001
|
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val)
|
rs199473311
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
NC_000003.11:g.(?_38591802)_(38674808_?)del
|
|
|
NC_000003.11:g.(?_38606513)_(38627513_?)del
|
|
|
NC_000003.11:g.(?_38616768)_(38649725_?)del
|
|
|
NC_000003.11:g.(?_38627162)_(38627552_?)del
|
|
|
NC_000003.11:g.(?_38647422)_(38648321_?)del
|
|
|
NC_000003.11:g.(?_38655228)_(38663986_?)del
|
|
|
NC_000003.11:g.(?_38671792)_(38674808_?)del
|
|
|
NC_000003.11:g.(?_38674520)_(38674804_?)del
|
|
|
NC_000003.12:g.(?_38613743)_(38622489_?)del
|
|
|
NC_000003.12:g.(?_38633035)_(38633359_?)del
|
|
|
NM_000335.5(SCN5A):c.1003T>C (p.Cys335Arg)
|
rs2125906059
|
|
NM_000335.5(SCN5A):c.102_103del (p.Gly35fs)
|
rs1131691708
|
|
NM_000335.5(SCN5A):c.1044del (p.Asp349fs)
|
|
|
NM_000335.5(SCN5A):c.104del (p.Gly35fs)
|
rs1060501142
|
|
NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs)
|
|
|
NM_000335.5(SCN5A):c.1080G>A (p.Trp360Ter)
|
rs794728851
|
|
NM_000335.5(SCN5A):c.1103del (p.Leu368fs)
|
rs2062020547
|
|
NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter)
|
rs1553704898
|
|
NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter)
|
rs794728926
|
|
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys)
|
rs199473100
|
|
NM_000335.5(SCN5A):c.1134T>A (p.Tyr378Ter)
|
rs373172185
|
|
NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter)
|
rs1553704878
|
|
NM_000335.5(SCN5A):c.1140+1G>A
|
rs730880210
|
|
NM_000335.5(SCN5A):c.1140+2T>G
|
rs2125905710
|
|
NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter)
|
rs2062566545
|
|
NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs)
|
|
|
NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs)
|
rs2062008042
|
|
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)
|
rs72549410
|
|
NM_000335.5(SCN5A):c.1246del (p.Tyr416fs)
|
|
|
NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs)
|
|
|
NM_000335.5(SCN5A):c.131del (p.Glu44fs)
|
rs2062565976
|
|
NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter)
|
|
|
NM_000335.5(SCN5A):c.1452del (p.Gly485fs)
|
rs2125902923
|
|
NM_000335.5(SCN5A):c.1555del (p.Ser519fs)
|
rs2125901794
|
|
NM_000335.5(SCN5A):c.1589del (p.Phe530fs)
|
rs2125901686
|
|
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)
|
rs1417036453
|
|
NM_000335.5(SCN5A):c.1652del (p.Ala551fs)
|
|
|
NM_000335.5(SCN5A):c.1753del (p.His585fs)
|
rs794728910
|
|
NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter)
|
rs2125935492
|
|
NM_000335.5(SCN5A):c.1816del (p.Ala606fs)
|
rs2125901090
|
|
NM_000335.5(SCN5A):c.189del (p.Lys63fs)
|
rs2062564269
|
|
NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter)
|
rs1064795085
|
|
NM_000335.5(SCN5A):c.1936del (p.Gln646fs)
|
rs727505158
|
|
NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter)
|
|
|
NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter)
|
rs1553607561
|
|
NM_000335.5(SCN5A):c.206del (p.Gly69fs)
|
|
|
NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter)
|
rs1553703015
|
|
NM_000335.5(SCN5A):c.2103del (p.Leu702fs)
|
rs794728911
|
|
NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter)
|
rs2125935394
|
|
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)
|
rs137854611
|
|
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg)
|
rs199473153
|
|
NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)
|
|
|
NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)
|
rs1575773471
|
|
NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter)
|
|
|
NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs)
|
rs1064793651
|
|
NM_000335.5(SCN5A):c.2336del (p.Gln779fs)
|
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe)
|
rs794728929
|
|
NM_000335.5(SCN5A):c.2533del (p.Val845fs)
|
rs794728912
|
|
NM_000335.5(SCN5A):c.2533dup (p.Val845fs)
|
rs794728912
|
|
NM_000335.5(SCN5A):c.2541del (p.Ile848fs)
|
|
|
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)
|
rs397514450
|
|
NM_000335.5(SCN5A):c.255del (p.Phe86fs)
|
rs727503411
|
|
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)
|
rs794728865
|
|
NM_000335.5(SCN5A):c.2576del (p.Gln859fs)
|
rs2061658738
|
|
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)
|
rs794728914
|
|
NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter)
|
|
|
NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter)
|
rs794728866
|
|
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)
|
rs199473168
|
|
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His)
|
rs199473587
|
|
NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter)
|
rs1060501114
|
|
NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter)
|
rs794728839
|
|
NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter)
|
|
|
NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter)
|
|
|
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)
|
rs199473175
|
|
NM_000335.5(SCN5A):c.2742del (p.Leu914fs)
|
rs2061654524
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
NM_000335.5(SCN5A):c.311G>A (p.Arg104Gln)
|
rs199473554
|
|
NM_000335.5(SCN5A):c.334dup (p.Tyr112fs)
|
rs2125931691
|
|
NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter)
|
rs1553698852
|
|
NM_000335.5(SCN5A):c.3493del (p.Asp1165fs)
|
|
|
NM_000335.5(SCN5A):c.3514_3515del (p.Val1172fs)
|
rs794728919
|
|
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter)
|
rs1237724419
|
|
NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter)
|
rs1553698475
|
|
NM_000335.5(SCN5A):c.3584del (p.Lys1195fs)
|
|
|
NM_000335.5(SCN5A):c.3595dup (p.His1199fs)
|
rs1559745565
|
|
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)
|
rs199473556
|
|
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln)
|
rs199473058
|
|
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)
|
rs199473204
|
|
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)
|
rs1559738598
|
|
NM_000335.5(SCN5A):c.3693del (p.Lys1232fs)
|
|
|
NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter)
|
|
|
NM_000335.5(SCN5A):c.3758del (p.Met1253fs)
|
rs2125849703
|
|
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs)
|
rs2125849694
|
|
NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter)
|
rs1553696647
|
|
NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter)
|
|
|
NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter)
|
|
|
NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs)
|
rs2061271482
|
|
NM_000335.5(SCN5A):c.3873del (p.Phe1292fs)
|
rs1553695847
|
|
NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs)
|
|
|
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)
|
rs1553695764
|
|
NM_000335.5(SCN5A):c.3960+1G>A
|
rs483353016
|
|
NM_000335.5(SCN5A):c.3960+1G>T
|
|
|
NM_000335.5(SCN5A):c.3960+2T>C
|
rs397514447
|
|
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)
|
rs28937317
|
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
|
NM_000335.5(SCN5A):c.3985G>C (p.Ala1329Pro)
|
rs199473224
|
|
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu)
|
rs199473225
|
|
NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)
|
rs1553695398
|
|
NM_000335.5(SCN5A):c.4085del (p.Cys1362fs)
|
rs2125840793
|
|
NM_000335.5(SCN5A):c.40del (p.Arg14fs)
|
|
|
NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs)
|
rs2061230986
|
|
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)
|
rs1553695282
|
|
NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter)
|
rs863224532
|
|
NM_000335.5(SCN5A):c.4179del (p.Trp1394fs)
|
rs2061229370
|
|
NM_000335.5(SCN5A):c.4187del (p.Lys1396fs)
|
rs397514446
|
|
NM_000335.5(SCN5A):c.4191del (p.Val1399fs)
|
rs1064796233
|
|
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)
|
rs137854612
|
|
NM_000335.5(SCN5A):c.421A>G (p.Ile141Val)
|
|
|
NM_000335.5(SCN5A):c.4242+1G>C
|
rs794728879
|
|
NM_000335.5(SCN5A):c.4242+2T>A
|
rs794728880
|
|
NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del)
|
rs2061175762
|
|
NM_000335.5(SCN5A):c.4270dup (p.Met1424fs)
|
|
|
NM_000335.5(SCN5A):c.4296+1del
|
rs1450434935
|
|
NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter)
|
rs2125835467
|
|
NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs)
|
rs2125835443
|
|
NM_000335.5(SCN5A):c.4373del (p.Phe1458fs)
|
rs2125835336
|
|
NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer)
|
rs1553694426
|
|
NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs)
|
rs2125835214
|
|
NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter)
|
|
|
NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter)
|
|
|
NM_000335.5(SCN5A):c.4450A>G (p.Ile1484Val)
|
rs1553694247
|
|
NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del)
|
rs2125834231
|
|
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)
|
rs397514251
|
|
NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs)
|
|
|
NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs)
|
|
|
NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter)
|
|
|
NM_000335.5(SCN5A):c.458del (p.Pro153fs)
|
|
|
NM_000335.5(SCN5A):c.4654del (p.Ser1552fs)
|
rs1559725687
|
|
NM_000335.5(SCN5A):c.474del (p.Lys158fs)
|
|
|
NM_000335.5(SCN5A):c.475_482+3del
|
rs2125922727
|
|
NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter)
|
|
|
NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter)
|
rs2062339211
|
|
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn)
|
rs137854607
|
|
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)
|
rs137854607
|
|
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)
|
rs199473062
|
|
NM_000335.5(SCN5A):c.4836del (p.Lys1613fs)
|
|
|
NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter)
|
rs1553693059
|
|
NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer)
|
rs863224533
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys)
|
rs199473282
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln)
|
rs137854600
|
|
NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys)
|
rs199473287
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs)
|
|
|
NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter)
|
rs2125826555
|
|
NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter)
|
|
|
NM_000335.5(SCN5A):c.5218del (p.Asp1740fs)
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rs1251085820
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NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu)
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rs199473629
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NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys)
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rs1559721331
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NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs)
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NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)
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rs199473631
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NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile)
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rs1553692822
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NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile)
|
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NM_000335.5(SCN5A):c.5295del (p.Met1765fs)
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NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)
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rs886037903
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NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs)
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rs1559720961
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NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)
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rs1480085793
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NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly)
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rs199473317
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NM_000335.5(SCN5A):c.5378del (p.Phe1793fs)
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rs2061024277
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NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)
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rs137854614
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NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer)
|
rs1559720870
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NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter)
|
rs1553692734
|
|
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)
|
rs1060501127
|
|
NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs)
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|
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NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter)
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rs1060501145
|
|
NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs)
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rs2125825662
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NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)
|
rs1553692660
|
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NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)
|
rs794728924
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NM_000335.5(SCN5A):c.5491del (p.Gln1831fs)
|
rs2061020838
|
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NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter)
|
rs1060501129
|
|
NM_000335.5(SCN5A):c.576del (p.Trp193fs)
|
rs2062303387
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|
NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter)
|
rs2125920971
|
|
NM_000335.5(SCN5A):c.589G>C (p.Asp197His)
|
rs1553605667
|
|
NM_000335.5(SCN5A):c.590A>G (p.Asp197Gly)
|
rs1559370502
|
|
NM_000335.5(SCN5A):c.596del (p.Ser199fs)
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|
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NM_000335.5(SCN5A):c.611+1G>A
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rs794728843
|
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NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter)
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rs2062158779
|
|
NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp)
|
rs2125914363
|
|
NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs)
|
|
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NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)
|
rs794728849
|
|
NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro)
|
|
|
NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer)
|
rs2062156506
|
|
NM_000335.5(SCN5A):c.901del (p.Trp301fs)
|
rs2125910133
|
|
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter)
|
rs1060501136
|
|
NM_000335.5(SCN5A):c.934+1G>A
|
rs1320531023
|
|
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)
|
|
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