NM_000335.5(SCN5A):c.*2135C>A
|
rs45502793
|
0.04380
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_201596.3(CACNB2):c.*16_*17insC
|
rs753335762
|
0.00556
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val)
|
rs114851656
|
0.00169
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_005477.3(HCN4):c.-529G>A
|
rs879470594
|
0.00136
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)
|
rs45489199
|
0.00109
|
NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter)
|
rs139849511
|
0.00108
|
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser)
|
rs184442491
|
0.00079
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
NM_000335.5(SCN5A):c.*659C>T
|
rs45446194
|
0.00074
|
NM_201596.3(CACNB2):c.*36del
|
rs752637408
|
0.00070
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
NM_201596.3(CACNB2):c.121-1G>T
|
rs875989812
|
0.00062
|
NM_000335.5(SCN5A):c.*382T>C
|
rs45459402
|
0.00061
|
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)
|
rs184280124
|
0.00057
|
NM_000335.5(SCN5A):c.*1414G>C
|
rs74954894
|
0.00054
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser)
|
rs139608070
|
0.00047
|
NM_000335.5(SCN5A):c.*1166G>A
|
rs947521286
|
0.00046
|
NM_000335.5(SCN5A):c.*1074C>G
|
rs776171341
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys)
|
rs144781529
|
0.00041
|
NM_000335.5(SCN5A):c.*160G>A
|
rs772585696
|
0.00039
|
NM_000335.5(SCN5A):c.*1568G>C
|
rs45503498
|
0.00038
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr)
|
rs374425919
|
0.00033
|
NM_006514.4(SCN10A):c.281T>G (p.Val94Gly)
|
rs202143516
|
0.00033
|
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)
|
rs202192818
|
0.00033
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_005477.3(HCN4):c.*1598A>G
|
rs749289571
|
0.00031
|
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp)
|
rs145712124
|
0.00030
|
NM_000335.5(SCN5A):c.*1743G>A
|
rs45474195
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
NM_001377540.1(SLMAP):c.2042A>G (p.Lys681Arg)
|
rs150439110
|
0.00028
|
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter)
|
rs374389286
|
0.00028
|
NM_000722.4(CACNA2D1):c.1405A>G (p.Ile469Val)
|
rs139439725
|
0.00026
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp)
|
rs546669133
|
0.00026
|
NM_000335.5(SCN5A):c.*1673C>T
|
rs886058443
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln)
|
rs373335068
|
0.00024
|
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)
|
rs375818733
|
0.00024
|
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn)
|
rs763880032
|
0.00023
|
NM_001037.5(SCN1B):c.-88A>C
|
rs886054341
|
0.00022
|
NM_006514.4(SCN10A):c.1370A>G (p.Glu457Gly)
|
rs766017851
|
0.00022
|
NM_201596.3(CACNB2):c.*758_*761dup
|
rs780734976
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)
|
rs199473192
|
0.00021
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_001037.5(SCN1B):c.448+345C>T
|
rs754815235
|
0.00021
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
NM_000335.5(SCN5A):c.*1969C>T
|
rs190416544
|
0.00020
|
NM_000335.5(SCN5A):c.*747G>A
|
rs763830252
|
0.00020
|
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
|
rs45609733
|
0.00019
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly)
|
rs117808169
|
0.00019
|
NM_006514.4(SCN10A):c.1118A>G (p.Tyr373Cys)
|
rs147835034
|
0.00019
|
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val)
|
rs144367884
|
0.00019
|
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)
|
rs202152674
|
0.00019
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000722.4(CACNA2D1):c.2751A>T (p.Gln917His)
|
rs145109446
|
0.00018
|
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)
|
rs138391404
|
0.00018
|
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
|
rs72552292
|
0.00018
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_000722.4(CACNA2D1):c.2983A>C (p.Lys995Gln)
|
rs749398266
|
0.00017
|
NM_001377540.1(SLMAP):c.2020+5A>G
|
rs199881493
|
0.00017
|
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys)
|
rs200645452
|
0.00017
|
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)
|
rs137854610
|
0.00016
|
NM_000722.4(CACNA2D1):c.532A>G (p.Ile178Val)
|
rs80063198
|
0.00016
|
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)
|
rs375755770
|
0.00016
|
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg)
|
rs778754301
|
0.00016
|
NM_201596.3(CACNB2):c.*621_*622insCA
|
rs564407056
|
0.00016
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001377540.1(SLMAP):c.1063G>A (p.Glu355Lys)
|
rs149548827
|
0.00015
|
NM_001377540.1(SLMAP):c.1703A>G (p.Gln568Arg)
|
rs141727742
|
0.00015
|
NM_001377540.1(SLMAP):c.615+6C>T
|
rs200859030
|
0.00015
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe)
|
rs375940680
|
0.00015
|
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro)
|
rs373263114
|
0.00015
|
NM_000335.5(SCN5A):c.*1058G>T
|
rs920940184
|
0.00014
|
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser)
|
rs199473116
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_000722.4(CACNA2D1):c.1222+4A>T
|
rs79571328
|
0.00014
|
NM_001037.5(SCN1B):c.*50C>T
|
rs925616600
|
0.00014
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
NM_005472.5(KCNE3):c.116C>G (p.Pro39Arg)
|
rs34604640
|
0.00014
|
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala)
|
rs146536985
|
0.00014
|
NM_000335.5(SCN5A):c.3837+12C>T
|
rs368550655
|
0.00013
|
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)
|
rs553500083
|
0.00013
|
NM_001377540.1(SLMAP):c.787C>G (p.Gln263Glu)
|
rs765000724
|
0.00013
|
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys)
|
rs143744796
|
0.00013
|
NM_000335.5(SCN5A):c.1384G>A (p.Glu462Lys)
|
rs199473572
|
0.00012
|
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr)
|
rs199473146
|
0.00012
|
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=)
|
rs747356664
|
0.00012
|
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)
|
rs374177870
|
0.00012
|
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105
|
0.00012
|
NM_001037.5(SCN1B):c.448+114C>G
|
rs1159393836
|
0.00012
|
NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile)
|
rs139040374
|
0.00012
|
NM_005477.3(HCN4):c.3220C>T (p.Leu1074Phe)
|
rs200399862
|
0.00012
|
NM_015141.4(GPD1L):c.467A>G (p.Asn156Ser)
|
rs139494055
|
0.00012
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)
|
rs199473112
|
0.00011
|
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=)
|
rs191840835
|
0.00011
|
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)
|
rs199473341
|
0.00011
|
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)
|
rs375752426
|
0.00011
|
NM_000719.7(CACNA1C):c.4727-9G>A
|
rs757966245
|
0.00011
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His)
|
rs141238313
|
0.00011
|
NM_001037.5(SCN1B):c.448+40G>A
|
rs199685662
|
0.00011
|
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)
|
rs144120746
|
0.00011
|
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu)
|
rs200546024
|
0.00011
|
NM_006514.4(SCN10A):c.2202C>G (p.Cys734Trp)
|
rs910678839
|
0.00011
|
NM_006514.4(SCN10A):c.2266C>T (p.Arg756Trp)
|
rs374341474
|
0.00011
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys)
|
rs775576991
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His)
|
rs375189396
|
0.00010
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
NM_001377540.1(SLMAP):c.346+6G>T
|
rs371736233
|
0.00010
|
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His)
|
rs149127157
|
0.00010
|
NM_005472.5(KCNE3):c.158G>A (p.Arg53His)
|
rs565287436
|
0.00010
|
NM_005477.3(HCN4):c.3353T>C (p.Leu1118Pro)
|
rs1165134160
|
0.00010
|
NM_006514.4(SCN10A):c.1535G>A (p.Arg512Gln)
|
rs200889952
|
0.00010
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys)
|
rs375274122
|
0.00010
|
NM_006514.4(SCN10A):c.3749G>A (p.Arg1250Gln)
|
rs774893568
|
0.00010
|
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter)
|
rs149504103
|
0.00010
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met)
|
rs777061524
|
0.00009
|
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
|
rs199473145
|
0.00009
|
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val)
|
rs765699394
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr)
|
rs199473294
|
0.00009
|
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=)
|
rs375323548
|
0.00009
|
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=)
|
rs370114378
|
0.00009
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)
|
rs201682618
|
0.00009
|
NM_000722.4(CACNA2D1):c.1375G>C (p.Val459Leu)
|
rs765696205
|
0.00009
|
NM_000722.4(CACNA2D1):c.2059G>A (p.Ala687Thr)
|
rs751204853
|
0.00009
|
NM_001037.5(SCN1B):c.448+189C>A
|
rs766373298
|
0.00009
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
NM_001040151.2(SCN3B):c.413C>T (p.Thr138Met)
|
rs761964055
|
0.00009
|
NM_001377540.1(SLMAP):c.191C>T (p.Thr64Met)
|
rs149291683
|
0.00009
|
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser)
|
rs773857091
|
0.00009
|
NM_006514.4(SCN10A):c.1417G>C (p.Asp473His)
|
rs143920053
|
0.00009
|
NM_006514.4(SCN10A):c.2746C>T (p.Arg916Trp)
|
rs370208223
|
0.00009
|
NM_006514.4(SCN10A):c.3445G>A (p.Val1149Met)
|
rs560631745
|
0.00009
|
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln)
|
rs149155352
|
0.00009
|
NM_006514.4(SCN10A):c.4639G>T (p.Val1547Leu)
|
rs377492327
|
0.00009
|
NM_012282.4(KCNE5):c.262G>A (p.Val88Ile)
|
rs145491359
|
0.00009
|
NM_201596.3(CACNB2):c.673A>G (p.Ile225Val)
|
rs140542975
|
0.00009
|
NM_000335.5(SCN5A):c.*688C>T
|
rs550747620
|
0.00008
|
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)
|
rs759584454
|
0.00008
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
0.00008
|
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)
|
rs41310765
|
0.00008
|
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)
|
rs199473634
|
0.00008
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val)
|
rs562675882
|
0.00008
|
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)
|
rs763738559
|
0.00008
|
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu)
|
rs202108848
|
0.00008
|
NM_001037.5(SCN1B):c.-123A>T
|
rs1034432673
|
0.00008
|
NM_005477.3(HCN4):c.1087A>G (p.Ile363Val)
|
rs144168042
|
0.00008
|
NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu)
|
rs758929649
|
0.00008
|
NM_005477.3(HCN4):c.2695G>A (p.Val899Ile)
|
rs370669201
|
0.00008
|
NM_005477.3(HCN4):c.466G>A (p.Gly156Ser)
|
rs924203370
|
0.00008
|
NM_005477.3(HCN4):c.481C>A (p.Pro161Thr)
|
rs1490522995
|
0.00008
|
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys)
|
rs745880598
|
0.00008
|
NM_006514.4(SCN10A):c.1493G>A (p.Arg498Gln)
|
rs372716583
|
0.00008
|
NM_006514.4(SCN10A):c.1601G>A (p.Arg534Gln)
|
rs147246725
|
0.00008
|
NM_006514.4(SCN10A):c.3675T>G (p.Ile1225Met)
|
rs371834340
|
0.00008
|
NM_006514.4(SCN10A):c.3704C>T (p.Ala1235Val)
|
rs765984332
|
0.00008
|
NM_006514.4(SCN10A):c.3712C>G (p.Leu1238Val)
|
rs960602539
|
0.00008
|
NM_006514.4(SCN10A):c.446G>A (p.Arg149Gln)
|
rs201706560
|
0.00008
|
NM_012282.4(KCNE5):c.298G>C (p.Glu100Gln)
|
rs775987548
|
0.00008
|
NM_015141.4(GPD1L):c.870G>T (p.Glu290Asp)
|
rs751812984
|
0.00008
|
NM_000335.5(SCN5A):c.*1151G>A
|
rs557896083
|
0.00007
|
NM_000335.5(SCN5A):c.*331T>C
|
rs551399685
|
0.00007
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg)
|
rs199473186
|
0.00007
|
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)
|
rs370588133
|
0.00007
|
NM_000719.7(CACNA1C):c.2854-4G>A
|
rs113929946
|
0.00007
|
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)
|
rs542914369
|
0.00007
|
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)
|
rs374991642
|
0.00007
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
NM_001377540.1(SLMAP):c.31C>T (p.Arg11Cys)
|
rs767298958
|
0.00007
|
NM_005472.5(KCNE3):c.296G>A (p.Arg99His)
|
rs121908441
|
0.00007
|
NM_005477.3(HCN4):c.1243G>A (p.Val415Met)
|
rs201978086
|
0.00007
|
NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg)
|
rs532186403
|
0.00007
|
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)
|
rs542532555
|
0.00007
|
NM_006514.4(SCN10A):c.2105T>G (p.Ile702Ser)
|
rs147482520
|
0.00007
|
NM_006514.4(SCN10A):c.3340T>C (p.Cys1114Arg)
|
rs771127702
|
0.00007
|
NM_006514.4(SCN10A):c.4657+5G>A
|
rs373642730
|
0.00007
|
NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg)
|
rs777980971
|
0.00007
|
NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr)
|
rs778426010
|
0.00007
|
NM_201596.3(CACNB2):c.804+665G>A
|
rs373932682
|
0.00007
|
NM_000335.5(SCN5A):c.*1932C>T
|
rs886058437
|
0.00006
|
NM_000335.5(SCN5A):c.101G>A (p.Arg34His)
|
rs199473046
|
0.00006
|
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys)
|
rs199473111
|
0.00006
|
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys)
|
rs199473048
|
0.00006
|
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe)
|
rs199473133
|
0.00006
|
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met)
|
rs199473185
|
0.00006
|
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp)
|
rs199473196
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)
|
rs373118001
|
0.00006
|
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)
|
rs771018427
|
0.00006
|
NM_000335.5(SCN5A):c.955G>A (p.Gly319Ser)
|
rs199473090
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)
|
rs756492434
|
0.00006
|
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp)
|
rs200289321
|
0.00006
|
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met)
|
rs377737331
|
0.00006
|
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=)
|
rs148592476
|
0.00006
|
NM_000722.4(CACNA2D1):c.1662+3G>A
|
rs375174760
|
0.00006
|
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr)
|
rs146250893
|
0.00006
|
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)
|
rs560827790
|
0.00006
|
NM_001037.5(SCN1B):c.448+144A>G
|
rs763402433
|
0.00006
|
NM_001037.5(SCN1B):c.448+225C>T
|
rs369588692
|
0.00006
|
NM_001037.5(SCN1B):c.448+334G>A
|
rs766204907
|
0.00006
|
NM_001040151.2(SCN3B):c.*4588T>C
|
rs765294617
|
0.00006
|
NM_001377540.1(SLMAP):c.1904G>A (p.Arg635Gln)
|
rs139032332
|
0.00006
|
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)
|
rs774713377
|
0.00006
|
NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu)
|
rs141880803
|
0.00006
|
NM_005477.3(HCN4):c.1636G>A (p.Asp546Asn)
|
rs370884239
|
0.00006
|
NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr)
|
rs775134377
|
0.00006
|
NM_005477.3(HCN4):c.2846G>A (p.Arg949Gln)
|
rs752139441
|
0.00006
|
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)
|
rs200495478
|
0.00006
|
NM_005477.3(HCN4):c.434C>T (p.Pro145Leu)
|
rs768272301
|
0.00006
|
NM_005477.3(HCN4):c.597G>T (p.Gln199His)
|
rs768734319
|
0.00006
|
NM_005477.3(HCN4):c.995G>A (p.Arg332Gln)
|
rs368164073
|
0.00006
|
NM_006514.4(SCN10A):c.1754C>T (p.Ser585Leu)
|
rs781705809
|
0.00006
|
NM_006514.4(SCN10A):c.3010T>G (p.Ser1004Ala)
|
rs186031413
|
0.00006
|
NM_006514.4(SCN10A):c.3425G>A (p.Arg1142His)
|
rs200584416
|
0.00006
|
NM_006514.4(SCN10A):c.3439C>T (p.Arg1147Cys)
|
rs373470651
|
0.00006
|
NM_006514.4(SCN10A):c.4089+1G>C
|
rs778498254
|
0.00006
|
NM_006514.4(SCN10A):c.4208T>C (p.Ile1403Thr)
|
rs140825889
|
0.00006
|
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met)
|
rs184521520
|
0.00006
|
NM_006514.4(SCN10A):c.599+1G>A
|
rs75991777
|
0.00006
|
NM_012282.4(KCNE5):c.277G>T (p.Glu93Ter)
|
rs61729624
|
0.00006
|
NM_015141.4(GPD1L):c.1004G>A (p.Arg335Lys)
|
rs369439723
|
0.00006
|
NM_015141.4(GPD1L):c.261T>A (p.Asp87Glu)
|
rs368838349
|
0.00006
|
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys)
|
rs72546647
|
0.00006
|
NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr)
|
rs140614930
|
0.00006
|
NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly)
|
rs148674271
|
0.00006
|
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr)
|
rs139749312
|
0.00006
|
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile)
|
rs149793143
|
0.00006
|
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys)
|
rs199714857
|
0.00006
|
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala)
|
rs151274272
|
0.00006
|
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys)
|
rs994878062
|
0.00006
|
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)
|
rs775608046
|
0.00005
|
NM_000335.5(SCN5A):c.*990T>C
|
rs886058448
|
0.00005
|
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp)
|
rs3918389
|
0.00005
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys)
|
rs375306544
|
0.00005
|
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln)
|
rs41313667
|
0.00005
|
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr)
|
rs376183542
|
0.00005
|
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn)
|
rs759374610
|
0.00005
|
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His)
|
rs374314562
|
0.00005
|
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu)
|
rs199473258
|
0.00005
|
NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=)
|
rs367778922
|
0.00005
|
NM_000722.4(CACNA2D1):c.2791C>G (p.Gln931Glu)
|
rs145110338
|
0.00005
|
NM_000722.4(CACNA2D1):c.2861C>T (p.Thr954Met)
|
rs111888027
|
0.00005
|
NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn)
|
rs776720930
|
0.00005
|
NM_001037.5(SCN1B):c.448+111C>T
|
rs758654948
|
0.00005
|
NM_001377540.1(SLMAP):c.2402A>G (p.Gln801Arg)
|
rs142778041
|
0.00005
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
NM_003098.3(SNTA1):c.821G>A (p.Arg274Gln)
|
rs137986136
|
0.00005
|
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)
|
rs144850908
|
0.00005
|
NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys)
|
rs542842233
|
0.00005
|
NM_005477.3(HCN4):c.2458G>A (p.Gly820Arg)
|
rs761337460
|
0.00005
|
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu)
|
rs371562763
|
0.00005
|
NM_005477.3(HCN4):c.3101C>G (p.Pro1034Arg)
|
rs928266429
|
0.00005
|
NM_005477.3(HCN4):c.3134C>T (p.Ala1045Val)
|
rs980750316
|
0.00005
|
NM_005477.3(HCN4):c.3305G>A (p.Arg1102His)
|
rs548130184
|
0.00005
|
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp)
|
rs200896834
|
0.00005
|
NM_005477.3(HCN4):c.592G>A (p.Asp198Asn)
|
rs1168642170
|
0.00005
|
NM_006514.4(SCN10A):c.1267G>A (p.Glu423Lys)
|
rs748821446
|
0.00005
|
NM_006514.4(SCN10A):c.1492C>T (p.Arg498Trp)
|
rs377467259
|
0.00005
|
NM_006514.4(SCN10A):c.14T>C (p.Ile5Thr)
|
rs557317287
|
0.00005
|
NM_006514.4(SCN10A):c.1604G>T (p.Gly535Val)
|
rs556526024
|
0.00005
|
NM_006514.4(SCN10A):c.1668A>T (p.Gln556His)
|
rs770276976
|
0.00005
|
NM_006514.4(SCN10A):c.2341G>A (p.Gly781Arg)
|
rs148851890
|
0.00005
|
NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val)
|
rs747839312
|
0.00005
|
NM_006514.4(SCN10A):c.2936G>T (p.Gly979Val)
|
rs559166014
|
0.00005
|
NM_006514.4(SCN10A):c.3556C>A (p.Leu1186Met)
|
rs192493052
|
0.00005
|
NM_006514.4(SCN10A):c.3804+6del
|
rs549795936
|
0.00005
|
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr)
|
rs200324539
|
0.00005
|
NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val)
|
rs756133876
|
0.00005
|
NM_006514.4(SCN10A):c.4777A>T (p.Ile1593Phe)
|
rs762600386
|
0.00005
|
NM_006514.4(SCN10A):c.5144A>C (p.Asn1715Thr)
|
rs777258179
|
0.00005
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00005
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=)
|
rs370684004
|
0.00004
|
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val)
|
rs201641342
|
0.00004
|
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=)
|
rs186942072
|
0.00004
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu)
|
rs755194086
|
0.00004
|
NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp)
|
rs768691853
|
0.00004
|
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)
|
rs763891399
|
0.00004
|
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp)
|
rs192379242
|
0.00004
|
NM_000335.5(SCN5A):c.3692G>A (p.Arg1231Gln)
|
rs199473206
|
0.00004
|
NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=)
|
rs775789293
|
0.00004
|
NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=)
|
rs199473246
|
0.00004
|
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=)
|
rs375026424
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)
|
rs41311087
|
0.00004
|
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=)
|
rs560476223
|
0.00004
|
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)
|
rs199473069
|
0.00004
|
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)
|
rs371194826
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln)
|
rs199473336
|
0.00004
|
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn)
|
rs376697724
|
0.00004
|
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)
|
rs762981322
|
0.00004
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
NM_000335.5(SCN5A):c.880G>A (p.Val294Met)
|
rs199473086
|
0.00004
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)
|
rs371702432
|
0.00004
|
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met)
|
rs772235214
|
0.00004
|
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)
|
rs531161884
|
0.00004
|
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)
|
rs552478740
|
0.00004
|
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)
|
rs756707031
|
0.00004
|
NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser)
|
rs149828018
|
0.00004
|
NM_000722.4(CACNA2D1):c.1736G>A (p.Arg579Lys)
|
rs1021370066
|
0.00004
|
NM_000722.4(CACNA2D1):c.2142C>T (p.Ile714=)
|
rs745501384
|
0.00004
|
NM_000722.4(CACNA2D1):c.2324C>A (p.Ala775Asp)
|
rs768768419
|
0.00004
|
NM_000722.4(CACNA2D1):c.2717C>T (p.Ser906Leu)
|
rs1015793463
|
0.00004
|
NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met)
|
rs748581194
|
0.00004
|
NM_000722.4(CACNA2D1):c.3066G>A (p.Ala1022=)
|
rs780560452
|
0.00004
|
NM_000722.4(CACNA2D1):c.818G>A (p.Arg273Gln)
|
rs373911809
|
0.00004
|
NM_001037.5(SCN1B):c.-132C>G
|
rs886054339
|
0.00004
|
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val)
|
rs72552028
|
0.00004
|
NM_001037.5(SCN1B):c.268G>A (p.Val90Met)
|
rs778461222
|
0.00004
|
NM_001037.5(SCN1B):c.448+333C>T
|
rs946024438
|
0.00004
|
NM_001040151.2(SCN3B):c.*2366G>A
|
rs867302682
|
0.00004
|
NM_001040151.2(SCN3B):c.106G>A (p.Val36Met)
|
rs147803210
|
0.00004
|
NM_001040151.2(SCN3B):c.160G>A (p.Val54Met)
|
rs377237114
|
0.00004
|
NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly)
|
rs587777555
|
0.00004
|
NM_001040151.2(SCN3B):c.199G>A (p.Glu67Lys)
|
rs140381249
|
0.00004
|
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln)
|
rs770801747
|
0.00004
|
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu)
|
rs746954414
|
0.00004
|
NM_001040151.2(SCN3B):c.98C>T (p.Thr33Met)
|
rs140041927
|
0.00004
|
NM_001377540.1(SLMAP):c.1289T>C (p.Ile430Thr)
|
rs375841302
|
0.00004
|
NM_001377540.1(SLMAP):c.1516G>T (p.Ala506Ser)
|
rs76544609
|
0.00004
|
NM_001377540.1(SLMAP):c.198+5T>C
|
rs759043349
|
0.00004
|
NM_001377540.1(SLMAP):c.2431G>C (p.Glu811Gln)
|
rs751083292
|
0.00004
|
NM_001377540.1(SLMAP):c.722T>C (p.Ile241Thr)
|
rs772627783
|
0.00004
|
NM_001377540.1(SLMAP):c.830G>A (p.Arg277Gln)
|
rs756718350
|
0.00004
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr)
|
rs765329541
|
0.00004
|
NM_005477.3(HCN4):c.194C>T (p.Thr65Met)
|
rs760387977
|
0.00004
|
NM_005477.3(HCN4):c.2069A>G (p.Asn690Ser)
|
rs776033369
|
0.00004
|
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)
|
rs376631391
|
0.00004
|
NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe)
|
rs1435000428
|
0.00004
|
NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys)
|
rs181894662
|
0.00004
|
NM_005477.3(HCN4):c.2797G>A (p.Ala933Thr)
|
rs762464413
|
0.00004
|
NM_005477.3(HCN4):c.2903C>T (p.Pro968Leu)
|
rs548194804
|
0.00004
|
NM_005477.3(HCN4):c.2938G>A (p.Gly980Arg)
|
rs780719805
|
0.00004
|
NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp)
|
rs538668505
|
0.00004
|
NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys)
|
rs759356193
|
0.00004
|
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp)
|
rs772839442
|
0.00004
|
NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr)
|
rs1050326641
|
0.00004
|
NM_005477.3(HCN4):c.3263C>T (p.Ala1088Val)
|
rs758484576
|
0.00004
|
NM_005477.3(HCN4):c.3409C>T (p.Pro1137Ser)
|
rs773914774
|
0.00004
|
NM_005477.3(HCN4):c.3414del (p.Arg1140fs)
|
rs746402732
|
0.00004
|
NM_005477.3(HCN4):c.3586C>T (p.Arg1196Cys)
|
rs780977563
|
0.00004
|
NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln)
|
rs146751122
|
0.00004
|
NM_005477.3(HCN4):c.394A>C (p.Ile132Leu)
|
rs772764704
|
0.00004
|
NM_005477.3(HCN4):c.497C>T (p.Pro166Leu)
|
rs771442346
|
0.00004
|
NM_005477.3(HCN4):c.545C>T (p.Pro182Leu)
|
rs755904697
|
0.00004
|
NM_005477.3(HCN4):c.559G>A (p.Ala187Thr)
|
rs761571946
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_006514.4(SCN10A):c.1051C>T (p.Arg351Cys)
|
rs370603046
|
0.00004
|
NM_006514.4(SCN10A):c.1093-3C>A
|
rs373289770
|
0.00004
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
NM_006514.4(SCN10A):c.1319C>T (p.Thr440Ile)
|
rs1018712886
|
0.00004
|
NM_006514.4(SCN10A):c.1432C>T (p.Arg478Cys)
|
rs770389041
|
0.00004
|
NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn)
|
rs910976049
|
0.00004
|
NM_006514.4(SCN10A):c.1762G>A (p.Asp588Asn)
|
rs747486328
|
0.00004
|
NM_006514.4(SCN10A):c.2156T>C (p.Phe719Ser)
|
rs758843257
|
0.00004
|
NM_006514.4(SCN10A):c.2170T>G (p.Tyr724Asp)
|
rs138751097
|
0.00004
|
NM_006514.4(SCN10A):c.2285G>A (p.Arg762His)
|
rs778131235
|
0.00004
|
NM_006514.4(SCN10A):c.2414G>T (p.Gly805Val)
|
rs779733116
|
0.00004
|
NM_006514.4(SCN10A):c.2530C>T (p.Arg844Cys)
|
rs140158387
|
0.00004
|
NM_006514.4(SCN10A):c.2617G>A (p.Val873Met)
|
rs764470746
|
0.00004
|
NM_006514.4(SCN10A):c.299C>A (p.Thr100Asn)
|
rs758035498
|
0.00004
|
NM_006514.4(SCN10A):c.3178T>G (p.Ser1060Ala)
|
rs750655728
|
0.00004
|
NM_006514.4(SCN10A):c.3778G>T (p.Ala1260Ser)
|
rs779316495
|
0.00004
|
NM_006514.4(SCN10A):c.4069T>A (p.Tyr1357Asn)
|
rs199703203
|
0.00004
|
NM_006514.4(SCN10A):c.4444A>G (p.Ile1482Val)
|
rs771215180
|
0.00004
|
NM_006514.4(SCN10A):c.4585G>A (p.Ala1529Thr)
|
rs757916036
|
0.00004
|
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met)
|
rs772484960
|
0.00004
|
NM_006514.4(SCN10A):c.4726C>T (p.Arg1576Cys)
|
rs764476034
|
0.00004
|
NM_006514.4(SCN10A):c.4736G>A (p.Arg1579Gln)
|
rs781118074
|
0.00004
|
NM_006514.4(SCN10A):c.4780C>T (p.Arg1594Cys)
|
rs373347787
|
0.00004
|
NM_006514.4(SCN10A):c.5294C>T (p.Ser1765Leu)
|
rs369137515
|
0.00004
|
NM_006514.4(SCN10A):c.539A>G (p.Asn180Ser)
|
rs371221408
|
0.00004
|
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter)
|
rs199503439
|
0.00004
|
NM_006514.4(SCN10A):c.5756C>T (p.Pro1919Leu)
|
rs1047449169
|
0.00004
|
NM_006514.4(SCN10A):c.5764G>A (p.Glu1922Lys)
|
rs376810032
|
0.00004
|
NM_006514.4(SCN10A):c.626G>A (p.Arg209His)
|
rs779184623
|
0.00004
|
NM_006514.4(SCN10A):c.688C>G (p.Pro230Ala)
|
rs147844607
|
0.00004
|
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)
|
rs72552294
|
0.00004
|
NM_201596.3(CACNB2):c.1168G>A (p.Ala390Thr)
|
rs370564617
|
0.00004
|
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His)
|
rs781646326
|
0.00004
|
NM_201596.3(CACNB2):c.1516C>T (p.Arg506Cys)
|
rs111250176
|
0.00004
|
NM_201596.3(CACNB2):c.1517G>A (p.Arg506His)
|
rs532262049
|
0.00004
|
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His)
|
rs1039406883
|
0.00004
|
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser)
|
rs730880059
|
0.00004
|
NM_201596.3(CACNB2):c.1687C>G (p.Arg563Gly)
|
rs760811952
|
0.00004
|
NM_201596.3(CACNB2):c.1735G>A (p.Val579Met)
|
rs544535665
|
0.00004
|
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly)
|
rs370475450
|
0.00004
|
NM_201596.3(CACNB2):c.1739A>G (p.Asp580Gly)
|
rs762715765
|
0.00004
|
NM_201596.3(CACNB2):c.1814C>G (p.Ser605Cys)
|
rs548428286
|
0.00004
|
NM_201596.3(CACNB2):c.1898G>A (p.Arg633His)
|
rs780045364
|
0.00004
|
NM_201596.3(CACNB2):c.427G>A (p.Glu143Lys)
|
rs368719191
|
0.00004
|
NM_201596.3(CACNB2):c.718C>G (p.Pro240Ala)
|
rs750627674
|
0.00004
|
NM_000335.5(SCN5A):c.*1555C>T
|
rs1040662890
|
0.00003
|
NM_000335.5(SCN5A):c.*663C>A
|
rs540984871
|
0.00003
|
NM_000335.5(SCN5A):c.-7T>G
|
rs863224816
|
0.00003
|
NM_000335.5(SCN5A):c.1558A>G (p.Met520Val)
|
rs769799503
|
0.00003
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)
|
rs199473123
|
0.00003
|
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His)
|
rs199473125
|
0.00003
|
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln)
|
rs769292594
|
0.00003
|
NM_000335.5(SCN5A):c.1800G>A (p.Val600=)
|
rs758101066
|
0.00003
|
NM_000335.5(SCN5A):c.1859G>A (p.Arg620His)
|
rs746504626
|
0.00003
|
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu)
|
rs778522112
|
0.00003
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
NM_000335.5(SCN5A):c.2262+18C>G
|
rs1011934257
|
0.00003
|
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)
|
rs753149586
|
0.00003
|
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=)
|
rs755980331
|
0.00003
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)
|
rs199473191
|
0.00003
|
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)
|
rs199473197
|
0.00003
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser)
|
rs781103369
|
0.00003
|
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala)
|
rs376965389
|
0.00003
|
NM_000335.5(SCN5A):c.3663+4C>G
|
rs539737269
|
0.00003
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)
|
rs730880207
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000335.5(SCN5A):c.4277C>A (p.Ala1426Glu)
|
rs1335890539
|
0.00003
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu)
|
rs199473250
|
0.00003
|
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr)
|
rs373410109
|
0.00003
|
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys)
|
rs767116750
|
0.00003
|
NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met)
|
rs199473279
|
0.00003
|
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile)
|
rs794728888
|
0.00003
|
NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=)
|
rs1419998623
|
0.00003
|
NM_000335.5(SCN5A):c.536G>A (p.Arg179Gln)
|
rs760585484
|
0.00003
|
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys)
|
rs760837591
|
0.00003
|
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)
|
rs199473328
|
0.00003
|
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)
|
rs137854603
|
0.00003
|
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys)
|
rs199473329
|
0.00003
|
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)
|
rs371308670
|
0.00003
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His)
|
rs768830617
|
0.00003
|
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr)
|
rs398123519
|
0.00003
|
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)
|
rs773015884
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val)
|
rs749674325
|
0.00003
|
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro)
|
rs758974396
|
0.00003
|
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)
|
rs769703001
|
0.00003
|
NM_000722.4(CACNA2D1):c.1411G>A (p.Gly471Ser)
|
rs377337212
|
0.00003
|
NM_000722.4(CACNA2D1):c.2986C>A (p.Leu996Ile)
|
rs1218449046
|
0.00003
|
NM_001037.5(SCN1B):c.-93G>C
|
rs886054340
|
0.00003
|
NM_001037.5(SCN1B):c.134G>A (p.Arg45His)
|
rs180943300
|
0.00003
|
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)
|
rs786205833
|
0.00003
|
NM_001037.5(SCN1B):c.448+30G>A
|
rs369058711
|
0.00003
|
NM_001037.5(SCN1B):c.64G>A (p.Val22Met)
|
rs745578106
|
0.00003
|
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)
|
rs786205838
|
0.00003
|
NM_001040151.2(SCN3B):c.14A>G (p.Asn5Ser)
|
rs369522500
|
0.00003
|
NM_001040151.2(SCN3B):c.395G>A (p.Arg132Gln)
|
rs755967151
|
0.00003
|
NM_001040151.2(SCN3B):c.415C>T (p.Arg139Trp)
|
rs368054375
|
0.00003
|
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr)
|
rs761362832
|
0.00003
|
NM_001377540.1(SLMAP):c.1270A>G (p.Thr424Ala)
|
rs746146243
|
0.00003
|
NM_001377540.1(SLMAP):c.1747A>G (p.Lys583Glu)
|
rs1260232243
|
0.00003
|
NM_001377540.1(SLMAP):c.2065G>A (p.Glu689Lys)
|
rs147989677
|
0.00003
|
NM_001377540.1(SLMAP):c.407G>A (p.Arg136Gln)
|
rs142516364
|
0.00003
|
NM_001377540.1(SLMAP):c.710G>A (p.Arg237Gln)
|
rs767174100
|
0.00003
|
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)
|
rs199637120
|
0.00003
|
NM_005472.5(KCNE3):c.304A>G (p.Met102Val)
|
rs556647231
|
0.00003
|
NM_005472.5(KCNE3):c.94C>T (p.Arg32Trp)
|
rs755300564
|
0.00003
|
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln)
|
rs745645715
|
0.00003
|
NM_005477.3(HCN4):c.1005G>A (p.Met335Ile)
|
rs758797709
|
0.00003
|
NM_005477.3(HCN4):c.1713C>T (p.Gly571=)
|
rs754495351
|
0.00003
|
NM_005477.3(HCN4):c.2507C>T (p.Ala836Val)
|
rs755045071
|
0.00003
|
NM_005477.3(HCN4):c.2783C>T (p.Pro928Leu)
|
rs1016286710
|
0.00003
|
NM_005477.3(HCN4):c.2801G>A (p.Arg934His)
|
rs369485237
|
0.00003
|
NM_005477.3(HCN4):c.2839G>A (p.Gly947Arg)
|
rs753524680
|
0.00003
|
NM_005477.3(HCN4):c.2990C>A (p.Pro997His)
|
rs375788137
|
0.00003
|
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser)
|
rs746291340
|
0.00003
|
NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val)
|
rs1064797200
|
0.00003
|
NM_005477.3(HCN4):c.3371G>A (p.Gly1124Asp)
|
rs981056449
|
0.00003
|
NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg)
|
rs748279911
|
0.00003
|
NM_005477.3(HCN4):c.3541A>C (p.Thr1181Pro)
|
rs761260469
|
0.00003
|
NM_005477.3(HCN4):c.515C>G (p.Pro172Arg)
|
rs747356931
|
0.00003
|
NM_005477.3(HCN4):c.581C>T (p.Ala194Val)
|
rs773676799
|
0.00003
|
NM_006514.4(SCN10A):c.1196C>T (p.Ala399Val)
|
rs371834396
|
0.00003
|
NM_006514.4(SCN10A):c.1454G>A (p.Arg485His)
|
rs746690639
|
0.00003
|
NM_006514.4(SCN10A):c.1486A>G (p.Lys496Glu)
|
rs755100226
|
0.00003
|
NM_006514.4(SCN10A):c.1534C>T (p.Arg512Ter)
|
rs200714519
|
0.00003
|
NM_006514.4(SCN10A):c.1618G>C (p.Gly540Arg)
|
rs779182285
|
0.00003
|
NM_006514.4(SCN10A):c.1788G>T (p.Leu596Phe)
|
rs764965507
|
0.00003
|
NM_006514.4(SCN10A):c.2026G>A (p.Val676Met)
|
rs576503650
|
0.00003
|
NM_006514.4(SCN10A):c.2258C>G (p.Ser753Cys)
|
rs1319283606
|
0.00003
|
NM_006514.4(SCN10A):c.2282T>C (p.Leu761Pro)
|
rs139988577
|
0.00003
|
NM_006514.4(SCN10A):c.232C>T (p.Pro78Ser)
|
rs753292241
|
0.00003
|
NM_006514.4(SCN10A):c.2367C>A (p.Asn789Lys)
|
rs770046573
|
0.00003
|
NM_006514.4(SCN10A):c.2485C>T (p.Arg829Cys)
|
rs755974168
|
0.00003
|
NM_006514.4(SCN10A):c.2599C>T (p.Leu867Phe)
|
rs1398369804
|
0.00003
|
NM_006514.4(SCN10A):c.2615C>T (p.Thr872Met)
|
rs757355631
|
0.00003
|
NM_006514.4(SCN10A):c.2747G>A (p.Arg916Gln)
|
rs267599804
|
0.00003
|
NM_006514.4(SCN10A):c.3061C>T (p.Gln1021Ter)
|
rs751252167
|
0.00003
|
NM_006514.4(SCN10A):c.3394A>C (p.Lys1132Gln)
|
rs756848600
|
0.00003
|
NM_006514.4(SCN10A):c.3943G>A (p.Asp1315Asn)
|
rs147640811
|
0.00003
|
NM_006514.4(SCN10A):c.4112A>G (p.Asp1371Gly)
|
rs376193439
|
0.00003
|
NM_006514.4(SCN10A):c.4164G>A (p.Trp1388Ter)
|
rs756253735
|
0.00003
|
NM_006514.4(SCN10A):c.4174G>A (p.Val1392Met)
|
rs539215014
|
0.00003
|
NM_006514.4(SCN10A):c.4294G>A (p.Asp1432Asn)
|
rs760268052
|
0.00003
|
NM_006514.4(SCN10A):c.445C>T (p.Arg149Ter)
|
rs745868315
|
0.00003
|
NM_006514.4(SCN10A):c.4573A>G (p.Met1525Val)
|
rs373085099
|
0.00003
|
NM_006514.4(SCN10A):c.4857C>A (p.Phe1619Leu)
|
rs767025015
|
0.00003
|
NM_006514.4(SCN10A):c.4878G>A (p.Met1626Ile)
|
rs371337228
|
0.00003
|
NM_006514.4(SCN10A):c.4915G>A (p.Asp1639Asn)
|
rs368582725
|
0.00003
|
NM_006514.4(SCN10A):c.4976C>T (p.Thr1659Met)
|
rs200761212
|
0.00003
|
NM_006514.4(SCN10A):c.5263G>A (p.Ala1755Thr)
|
rs371924465
|
0.00003
|
NM_006514.4(SCN10A):c.5365G>A (p.Asp1789Asn)
|
rs375735101
|
0.00003
|
NM_006514.4(SCN10A):c.5690T>A (p.Phe1897Tyr)
|
rs754159937
|
0.00003
|
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs)
|
rs747321219
|
0.00003
|
NM_006514.4(SCN10A):c.955T>A (p.Cys319Ser)
|
rs199715855
|
0.00003
|
NM_012282.4(KCNE5):c.263T>A (p.Val88Asp)
|
rs1420621771
|
0.00003
|
NM_015141.4(GPD1L):c.11C>T (p.Ala4Val)
|
rs201152084
|
0.00003
|
NM_015141.4(GPD1L):c.505+2T>G
|
rs943929226
|
0.00003
|
NM_015141.4(GPD1L):c.547C>G (p.Leu183Val)
|
rs1376727184
|
0.00003
|
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg)
|
rs146477959
|
0.00003
|
NM_201596.3(CACNB2):c.1580A>C (p.Lys527Thr)
|
rs771565696
|
0.00003
|
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln)
|
rs367619172
|
0.00003
|
NM_201596.3(CACNB2):c.544A>G (p.Met182Val)
|
rs775466397
|
0.00003
|
NM_201596.3(CACNB2):c.800A>G (p.Lys267Arg)
|
rs771875189
|
0.00003
|
NM_000335.5(SCN5A):c.*1060G>A
|
rs976491159
|
0.00002
|
NM_000335.5(SCN5A):c.*1087G>A
|
rs886058446
|
0.00002
|
NM_000335.5(SCN5A):c.*2007G>A
|
rs45593136
|
0.00002
|
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr)
|
rs199473110
|
0.00002
|
NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys)
|
rs199473115
|
0.00002
|
NM_000335.5(SCN5A):c.1702C>T (p.Arg568Cys)
|
rs45600438
|
0.00002
|
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)
|
rs587781161
|
0.00002
|
NM_000335.5(SCN5A):c.206G>A (p.Gly69Asp)
|
rs758404546
|
0.00002
|
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)
|
rs958480279
|
0.00002
|
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile)
|
rs199473159
|
0.00002
|
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val)
|
rs202114798
|
0.00002
|
NM_000335.5(SCN5A):c.3004C>T (p.Pro1002Ser)
|
rs750100874
|
0.00002
|
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)
|
rs745435760
|
0.00002
|
NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg)
|
rs199473641
|
0.00002
|
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)
|
rs199473193
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_000335.5(SCN5A):c.3581G>A (p.Arg1194His)
|
rs199473596
|
0.00002
|
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=)
|
rs371610895
|
0.00002
|
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
|
rs780405533
|
0.00002
|
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His)
|
rs199473621
|
0.00002
|
NM_000335.5(SCN5A):c.495C>T (p.Thr165=)
|
rs62242804
|
0.00002
|
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)
|
rs199473327
|
0.00002
|
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His)
|
rs727504822
|
0.00002
|
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr)
|
rs199473330
|
0.00002
|
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)
|
rs199473640
|
0.00002
|
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys)
|
rs762012668
|
0.00002
|
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser)
|
rs199473085
|
0.00002
|
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)
|
rs545511851
|
0.00002
|
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)
|
rs369884505
|
0.00002
|
NM_000719.7(CACNA1C):c.4141-605G>A
|
rs1054703481
|
0.00002
|
NM_000719.7(CACNA1C):c.4956+5G>C
|
rs758948589
|
0.00002
|
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met)
|
rs199586997
|
0.00002
|
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)
|
rs201049603
|
0.00002
|
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)
|
rs764212214
|
0.00002
|
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)
|
rs753954220
|
0.00002
|
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)
|
rs532551057
|
0.00002
|
NM_000722.4(CACNA2D1):c.1993A>G (p.Thr665Ala)
|
rs780901801
|
0.00002
|
NM_000722.4(CACNA2D1):c.3260C>T (p.Thr1087Ile)
|
rs1457933535
|
0.00002
|
NM_000722.4(CACNA2D1):c.560G>A (p.Ser187Asn)
|
rs955984125
|
0.00002
|
NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser)
|
rs1461155317
|
0.00002
|
NM_001037.5(SCN1B):c.*378G>A
|
rs1462739595
|
0.00002
|
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)
|
rs372289648
|
0.00002
|
NM_001037.5(SCN1B):c.358G>A (p.Glu120Lys)
|
rs772112038
|
0.00002
|
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile)
|
rs754215948
|
0.00002
|
NM_001037.5(SCN1B):c.448+100G>T
|
rs779658201
|
0.00002
|
NM_001037.5(SCN1B):c.448+159C>T
|
rs774036126
|
0.00002
|
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu)
|
rs138450474
|
0.00002
|
NM_001037.5(SCN1B):c.55G>A (p.Gly19Arg)
|
rs771386831
|
0.00002
|
NM_001037.5(SCN1B):c.585G>A (p.Glu195=)
|
rs753271148
|
0.00002
|
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)
|
rs554201948
|
0.00002
|
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile)
|
rs780958012
|
0.00002
|
NM_001037.5(SCN1B):c.636G>A (p.Thr212=)
|
rs763715229
|
0.00002
|
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp)
|
rs201209882
|
0.00002
|
NM_001040151.2(SCN3B):c.232C>T (p.Arg78Trp)
|
rs764587765
|
0.00002
|
NM_001040151.2(SCN3B):c.233G>A (p.Arg78Gln)
|
rs375545539
|
0.00002
|
NM_001040151.2(SCN3B):c.394C>T (p.Arg132Trp)
|
rs371558196
|
0.00002
|
NM_001040151.2(SCN3B):c.55+3A>G
|
rs767074394
|
0.00002
|
NM_001040151.2(SCN3B):c.614A>G (p.Asn205Ser)
|
rs781244975
|
0.00002
|
NM_001377540.1(SLMAP):c.1312G>A (p.Val438Ile)
|
rs751946618
|
0.00002
|
NM_001377540.1(SLMAP):c.1624+1G>T
|
rs140490085
|
0.00002
|
NM_001377540.1(SLMAP):c.1655G>A (p.Arg552Gln)
|
rs372758327
|
0.00002
|
NM_001377540.1(SLMAP):c.1814A>G (p.His605Arg)
|
rs746778162
|
0.00002
|
NM_001377540.1(SLMAP):c.2189T>A (p.Met730Lys)
|
rs371314097
|
0.00002
|
NM_001377540.1(SLMAP):c.2243G>A (p.Arg748Gln)
|
rs141277984
|
0.00002
|
NM_001377540.1(SLMAP):c.4C>T (p.Pro2Ser)
|
rs973236515
|
0.00002
|
NM_001377540.1(SLMAP):c.646C>T (p.Arg216Trp)
|
rs367733735
|
0.00002
|
NM_001377540.1(SLMAP):c.940A>G (p.Ile314Val)
|
rs776232087
|
0.00002
|
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)
|
rs760907112
|
0.00002
|
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln)
|
rs142014286
|
0.00002
|
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile)
|
rs770087869
|
0.00002
|
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys)
|
rs781083385
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_005472.5(KCNE3):c.20C>T (p.Thr7Met)
|
rs547194943
|
0.00002
|
NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys)
|
rs763157740
|
0.00002
|
NM_005472.5(KCNE3):c.263G>A (p.Arg88His)
|
rs17221833
|
0.00002
|
NM_005472.5(KCNE3):c.49G>A (p.Val17Met)
|
rs773287275
|
0.00002
|
NM_005477.3(HCN4):c.1094C>T (p.Ser365Leu)
|
rs745346676
|
0.00002
|
NM_005477.3(HCN4):c.1385G>A (p.Gly462Glu)
|
rs146714274
|
0.00002
|
NM_005477.3(HCN4):c.1732C>T (p.Arg578Trp)
|
rs752953709
|
0.00002
|
NM_005477.3(HCN4):c.1871G>A (p.Arg624Gln)
|
rs763842368
|
0.00002
|
NM_005477.3(HCN4):c.1997G>A (p.Arg666Gln)
|
rs781395940
|
0.00002
|
NM_005477.3(HCN4):c.2194G>A (p.Gly732Ser)
|
rs199530458
|
0.00002
|
NM_005477.3(HCN4):c.2235T>G (p.Ile745Met)
|
rs1438842471
|
0.00002
|
NM_005477.3(HCN4):c.2249G>A (p.Arg750Gln)
|
rs774330689
|
0.00002
|
NM_005477.3(HCN4):c.2272C>T (p.Arg758Cys)
|
rs777209839
|
0.00002
|
NM_005477.3(HCN4):c.2374G>T (p.Ala792Ser)
|
rs756650627
|
0.00002
|
NM_005477.3(HCN4):c.2419C>T (p.Arg807Cys)
|
rs758427944
|
0.00002
|
NM_005477.3(HCN4):c.2444G>C (p.Gly815Ala)
|
rs918010761
|
0.00002
|
NM_005477.3(HCN4):c.2518G>A (p.Ala840Thr)
|
rs761507884
|
0.00002
|
NM_005477.3(HCN4):c.2555C>T (p.Pro852Leu)
|
rs779241036
|
0.00002
|
NM_005477.3(HCN4):c.2606C>T (p.Ala869Val)
|
rs540848262
|
0.00002
|
NM_005477.3(HCN4):c.2764G>A (p.Asp922Asn)
|
rs1020318942
|
0.00002
|
NM_005477.3(HCN4):c.2807C>T (p.Pro936Leu)
|
rs769959023
|
0.00002
|
NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser)
|
rs778739758
|
0.00002
|
NM_005477.3(HCN4):c.2875C>G (p.Leu959Val)
|
rs1057524285
|
0.00002
|
NM_005477.3(HCN4):c.3008C>T (p.Pro1003Leu)
|
rs1475883901
|
0.00002
|
NM_005477.3(HCN4):c.3049G>A (p.Val1017Ile)
|
rs1476274605
|
0.00002
|
NM_005477.3(HCN4):c.3116C>T (p.Pro1039Leu)
|
rs572132730
|
0.00002
|
NM_005477.3(HCN4):c.3131G>A (p.Arg1044Gln)
|
rs750637152
|
0.00002
|
NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg)
|
rs1443227484
|
0.00002
|
NM_005477.3(HCN4):c.3197C>A (p.Pro1066His)
|
rs765155640
|
0.00002
|
NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu)
|
rs982016034
|
0.00002
|
NM_005477.3(HCN4):c.3232C>T (p.Arg1078Cys)
|
rs781376523
|
0.00002
|
NM_005477.3(HCN4):c.3317C>T (p.Pro1106Leu)
|
rs940405280
|
0.00002
|
NM_005477.3(HCN4):c.334G>A (p.Gly112Ser)
|
rs765099391
|
0.00002
|
NM_005477.3(HCN4):c.3383G>T (p.Gly1128Val)
|
rs727503957
|
0.00002
|
NM_005477.3(HCN4):c.3581C>T (p.Pro1194Leu)
|
rs147982868
|
0.00002
|
NM_005477.3(HCN4):c.3605A>G (p.Asn1202Ser)
|
rs768028811
|
0.00002
|
NM_005477.3(HCN4):c.409G>A (p.Ala137Thr)
|
rs767160441
|
0.00002
|
NM_005477.3(HCN4):c.556A>G (p.Thr186Ala)
|
rs1085307696
|
0.00002
|
NM_005477.3(HCN4):c.88G>A (p.Glu30Lys)
|
rs786205802
|
0.00002
|
NM_006514.4(SCN10A):c.1276C>T (p.Arg426Trp)
|
rs532774213
|
0.00002
|
NM_006514.4(SCN10A):c.1286A>G (p.Gln429Arg)
|
rs1331566750
|
0.00002
|
NM_006514.4(SCN10A):c.1397T>C (p.Val466Ala)
|
rs764168768
|
0.00002
|
NM_006514.4(SCN10A):c.1516C>A (p.His506Asn)
|
rs745555704
|
0.00002
|
NM_006514.4(SCN10A):c.1825A>T (p.Arg609Trp)
|
rs769962695
|
0.00002
|
NM_006514.4(SCN10A):c.2055G>C (p.Glu685Asp)
|
rs921491588
|
0.00002
|
NM_006514.4(SCN10A):c.2195T>C (p.Phe732Ser)
|
rs373216811
|
0.00002
|
NM_006514.4(SCN10A):c.2221C>G (p.Leu741Val)
|
rs137906740
|
0.00002
|
NM_006514.4(SCN10A):c.2275C>G (p.Arg759Gly)
|
rs745659019
|
0.00002
|
NM_006514.4(SCN10A):c.2449C>T (p.Arg817Ter)
|
rs763084100
|
0.00002
|
NM_006514.4(SCN10A):c.2464G>A (p.Ala822Thr)
|
rs144304164
|
0.00002
|
NM_006514.4(SCN10A):c.2579T>C (p.Val860Ala)
|
rs781073957
|
0.00002
|
NM_006514.4(SCN10A):c.2702C>T (p.Pro901Leu)
|
rs370965011
|
0.00002
|
NM_006514.4(SCN10A):c.2766T>A (p.His922Gln)
|
rs760270839
|
0.00002
|
NM_006514.4(SCN10A):c.2974A>G (p.Thr992Ala)
|
rs765269419
|
0.00002
|
NM_006514.4(SCN10A):c.3070G>A (p.Val1024Met)
|
rs201106879
|
0.00002
|
NM_006514.4(SCN10A):c.307C>T (p.Arg103Trp)
|
rs750073618
|
0.00002
|
NM_006514.4(SCN10A):c.3157T>A (p.Ser1053Thr)
|
rs962402134
|
0.00002
|
NM_006514.4(SCN10A):c.3191C>T (p.Thr1064Met)
|
rs774803610
|
0.00002
|
NM_006514.4(SCN10A):c.3403T>C (p.Trp1135Arg)
|
rs769714725
|
0.00002
|
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met)
|
rs145568435
|
0.00002
|
NM_006514.4(SCN10A):c.3598G>A (p.Glu1200Lys)
|
rs202199966
|
0.00002
|
NM_006514.4(SCN10A):c.3727G>A (p.Val1243Met)
|
rs765684724
|
0.00002
|
NM_006514.4(SCN10A):c.3742G>C (p.Ala1248Pro)
|
rs764555780
|
0.00002
|
NM_006514.4(SCN10A):c.3760G>A (p.Ala1254Thr)
|
rs773155259
|
0.00002
|
NM_006514.4(SCN10A):c.3766C>T (p.Arg1256Trp)
|
rs747044382
|
0.00002
|
NM_006514.4(SCN10A):c.40C>T (p.Arg14Cys)
|
rs750771811
|
0.00002
|
NM_006514.4(SCN10A):c.4304T>C (p.Met1435Thr)
|
rs759286277
|
0.00002
|
NM_006514.4(SCN10A):c.4447A>G (p.Met1483Val)
|
rs749549443
|
0.00002
|
NM_006514.4(SCN10A):c.4563C>T (p.Gly1521=)
|
rs774492634
|
0.00002
|
NM_006514.4(SCN10A):c.4567T>C (p.Cys1523Arg)
|
rs763221534
|
0.00002
|
NM_006514.4(SCN10A):c.46T>C (p.Phe16Leu)
|
rs1432009058
|
0.00002
|
NM_006514.4(SCN10A):c.5024C>T (p.Pro1675Leu)
|
rs564943632
|
0.00002
|
NM_006514.4(SCN10A):c.503C>A (p.Ala168Asp)
|
rs558639346
|
0.00002
|
NM_006514.4(SCN10A):c.5093G>T (p.Gly1698Val)
|
rs201985536
|
0.00002
|
NM_006514.4(SCN10A):c.5283T>G (p.Phe1761Leu)
|
rs751237565
|
0.00002
|
NM_006514.4(SCN10A):c.5285C>T (p.Ser1762Phe)
|
rs758177964
|
0.00002
|
NM_006514.4(SCN10A):c.5606G>A (p.Arg1869His)
|
rs765477377
|
0.00002
|
NM_006514.4(SCN10A):c.682G>A (p.Val228Met)
|
rs141368548
|
0.00002
|
NM_006514.4(SCN10A):c.990C>A (p.Asp330Glu)
|
rs1360994164
|
0.00002
|
NM_012282.4(KCNE5):c.305A>C (p.Glu102Ala)
|
rs375008004
|
0.00002
|
NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg)
|
rs1053382446
|
0.00002
|
NM_015141.4(GPD1L):c.812G>A (p.Arg271Gln)
|
rs1042900556
|
0.00002
|
NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr)
|
rs764691105
|
0.00002
|
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr)
|
rs552868927
|
0.00002
|
NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val)
|
rs578106427
|
0.00002
|
NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys)
|
rs1339855749
|
0.00002
|
NM_201596.3(CACNB2):c.1769A>C (p.His590Pro)
|
rs2053936892
|
0.00002
|
NM_201596.3(CACNB2):c.1779G>C (p.Glu593Asp)
|
rs1045331277
|
0.00002
|
NM_201596.3(CACNB2):c.1879C>T (p.Arg627Cys)
|
rs753259405
|
0.00002
|
NM_201596.3(CACNB2):c.1937G>A (p.Arg646Gln)
|
rs374454040
|
0.00002
|
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln)
|
rs144461906
|
0.00002
|
NM_201596.3(CACNB2):c.994G>T (p.Val332Leu)
|
rs369543094
|
0.00002
|
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu)
|
rs763031434
|
0.00001
|
NM_000335.5(SCN5A):c.*1731G>C
|
rs569249327
|
0.00001
|
NM_000335.5(SCN5A):c.*204T>C
|
rs147795595
|
0.00001
|
NM_000335.5(SCN5A):c.*475T>C
|
rs889570615
|
0.00001
|
NM_000335.5(SCN5A):c.*587C>T
|
rs1162696914
|
0.00001
|
NM_000335.5(SCN5A):c.*662C>T
|
rs1264714663
|
0.00001
|
NM_000335.5(SCN5A):c.*945C>A
|
rs886058450
|
0.00001
|
NM_000335.5(SCN5A):c.-53+12C>T
|
rs886058464
|
0.00001
|
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys)
|
rs368552426
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser)
|
rs201276017
|
0.00001
|
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala)
|
rs199473571
|
0.00001
|
NM_000335.5(SCN5A):c.1398G>T (p.Leu466Phe)
|
rs776541865
|
0.00001
|
NM_000335.5(SCN5A):c.1446G>A (p.Met482Ile)
|
rs1212816065
|
0.00001
|
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=)
|
rs761505485
|
0.00001
|
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys)
|
rs760531609
|
0.00001
|
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)
|
rs727505131
|
0.00001
|
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys)
|
rs145733679
|
0.00001
|
NM_000335.5(SCN5A):c.154C>T (p.Pro52Ser)
|
rs199473553
|
0.00001
|
NM_000335.5(SCN5A):c.1561A>G (p.Lys521Glu)
|
rs201840288
|
0.00001
|
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys)
|
rs199473573
|
0.00001
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
NM_000335.5(SCN5A):c.1606G>C (p.Asp536His)
|
rs1475895120
|
0.00001
|
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)
|
rs199473124
|
0.00001
|
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp)
|
rs199473576
|
0.00001
|
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val)
|
rs757119370
|
0.00001
|
NM_000335.5(SCN5A):c.1868T>C (p.Met623Thr)
|
rs775045819
|
0.00001
|
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met)
|
rs199473134
|
0.00001
|
NM_000335.5(SCN5A):c.1939G>T (p.Ala647Ser)
|
rs753232371
|
0.00001
|
NM_000335.5(SCN5A):c.193C>T (p.Pro65Ser)
|
rs1202614416
|
0.00001
|
NM_000335.5(SCN5A):c.1940C>T (p.Ala647Val)
|
rs185638763
|
0.00001
|
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr)
|
rs1380959630
|
0.00001
|
NM_000335.5(SCN5A):c.1955G>A (p.Gly652Asp)
|
rs762737339
|
0.00001
|
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys)
|
rs199473579
|
0.00001
|
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys)
|
rs376173627
|
0.00001
|
NM_000335.5(SCN5A):c.209A>G (p.Asn70Ser)
|
rs368357262
|
0.00001
|
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)
|
rs199473050
|
0.00001
|
NM_000335.5(SCN5A):c.2114C>T (p.Ser705Phe)
|
rs199473148
|
0.00001
|
NM_000335.5(SCN5A):c.2150C>T (p.Pro717Leu)
|
rs199473149
|
0.00001
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile)
|
rs772681454
|
0.00001
|
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)
|
rs199473157
|
0.00001
|
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys)
|
rs764252430
|
0.00001
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His)
|
rs769349991
|
0.00001
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
NM_000335.5(SCN5A):c.2548G>A (p.Val850Met)
|
rs911293694
|
0.00001
|
NM_000335.5(SCN5A):c.2599G>A (p.Glu867Lys)
|
rs199473167
|
0.00001
|
NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp)
|
rs765698507
|
0.00001
|
NM_000335.5(SCN5A):c.2708T>C (p.Met903Thr)
|
rs1341909190
|
0.00001
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
NM_000335.5(SCN5A):c.2878C>A (p.Gln960Lys)
|
rs199473590
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp)
|
rs41311135
|
0.00001
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp)
|
rs1455337011
|
0.00001
|
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met)
|
rs527480102
|
0.00001
|
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)
|
rs1373296470
|
0.00001
|
NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)
|
rs1331765859
|
0.00001
|
NM_000335.5(SCN5A):c.3233C>T (p.Ser1078Phe)
|
rs199473188
|
0.00001
|
NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser)
|
rs199473190
|
0.00001
|
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr)
|
rs1481582794
|
0.00001
|
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val)
|
rs199473194
|
0.00001
|
NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu)
|
rs1447666161
|
0.00001
|
NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser)
|
rs371469522
|
0.00001
|
NM_000335.5(SCN5A):c.3410A>C (p.Glu1137Ala)
|
rs199473198
|
0.00001
|
NM_000335.5(SCN5A):c.3439G>A (p.Ala1147Thr)
|
rs762810998
|
0.00001
|
NM_000335.5(SCN5A):c.3497G>A (p.Cys1166Tyr)
|
rs993780673
|
0.00001
|
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr)
|
rs199473595
|
0.00001
|
NM_000335.5(SCN5A):c.3561G>T (p.Gly1187=)
|
rs17221875
|
0.00001
|
NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met)
|
rs375509048
|
0.00001
|
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val)
|
rs727503407
|
0.00001
|
NM_000335.5(SCN5A):c.3944G>A (p.Arg1315Gln)
|
rs765907469
|
0.00001
|
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=)
|
rs746892102
|
0.00001
|
NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met)
|
rs199473233
|
0.00001
|
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=)
|
rs187370816
|
0.00001
|
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met)
|
rs748312802
|
0.00001
|
NM_000335.5(SCN5A):c.4189G>A (p.Val1397Met)
|
rs1434495282
|
0.00001
|
NM_000335.5(SCN5A):c.422T>A (p.Ile141Asn)
|
rs772186966
|
0.00001
|
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala)
|
rs794728883
|
0.00001
|
NM_000335.5(SCN5A):c.4502G>C (p.Gly1501Ala)
|
rs1230010586
|
0.00001
|
NM_000335.5(SCN5A):c.4570G>A (p.Val1524Met)
|
rs199473269
|
0.00001
|
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu)
|
rs1298498462
|
0.00001
|
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)
|
rs886058460
|
0.00001
|
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)
|
rs918933961
|
0.00001
|
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr)
|
rs199473042
|
0.00001
|
NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile)
|
rs371651284
|
0.00001
|
NM_000335.5(SCN5A):c.5207G>A (p.Gly1736Asp)
|
rs773130164
|
0.00001
|
NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn)
|
rs746418124
|
0.00001
|
NM_000335.5(SCN5A):c.5250C>T (p.Phe1750=)
|
rs2061028836
|
0.00001
|
NM_000335.5(SCN5A):c.5365G>A (p.Asp1789Asn)
|
rs772508476
|
0.00001
|
NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr)
|
rs764188413
|
0.00001
|
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)
|
rs369058100
|
0.00001
|
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val)
|
rs199473067
|
0.00001
|
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln)
|
rs761369505
|
0.00001
|
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)
|
rs199473637
|
0.00001
|
NM_000335.5(SCN5A):c.5900T>G (p.Ile1967Ser)
|
rs199473639
|
0.00001
|
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)
|
rs772258197
|
0.00001
|
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu)
|
rs765885732
|
0.00001
|
NM_000335.5(SCN5A):c.5995G>T (p.Asp1999Tyr)
|
rs764195092
|
0.00001
|
NM_000335.5(SCN5A):c.610G>A (p.Ala204Thr)
|
rs1378168869
|
0.00001
|
NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser)
|
rs1484635042
|
0.00001
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val)
|
rs776925980
|
0.00001
|
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)
|
rs199473071
|
0.00001
|
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro)
|
rs760011764
|
0.00001
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile)
|
rs752824646
|
0.00001
|
NM_000335.5(SCN5A):c.84G>A (p.Met28Ile)
|
rs1284557438
|
0.00001
|
NM_000335.5(SCN5A):c.865G>A (p.Gly289Ser)
|
rs199473084
|
0.00001
|
NM_000335.5(SCN5A):c.872A>G (p.Asn291Ser)
|
rs199473563
|
0.00001
|
NM_000335.5(SCN5A):c.893G>A (p.Gly298Asp)
|
rs759383134
|
0.00001
|
NM_000335.5(SCN5A):c.916C>G (p.Leu306Val)
|
rs748956841
|
0.00001
|
NM_000719.7(CACNA1C):c.-233C>T
|
rs886049148
|
0.00001
|
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)
|
rs752842357
|
0.00001
|
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala)
|
rs1057518456
|
0.00001
|
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys)
|
rs762162937
|
0.00001
|
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met)
|
rs749561588
|
0.00001
|
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met)
|
rs768034509
|
0.00001
|
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn)
|
rs369638898
|
0.00001
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)
|
rs761378545
|
0.00001
|
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg)
|
rs1305965146
|
0.00001
|
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)
|
rs766023530
|
0.00001
|
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln)
|
rs368861681
|
0.00001
|
NM_000719.7(CACNA1C):c.3717+4A>G
|
rs1184709095
|
0.00001
|
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val)
|
rs200206894
|
0.00001
|
NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val)
|
rs1032623545
|
0.00001
|
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met)
|
rs1243482248
|
0.00001
|
NM_000719.7(CACNA1C):c.4943C>T (p.Ala1648Val)
|
rs767199033
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)
|
rs375846068
|
0.00001
|
NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu)
|
rs958489483
|
0.00001
|
NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg)
|
rs1178438128
|
0.00001
|
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)
|
rs1464980383
|
0.00001
|
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)
|
rs373687005
|
0.00001
|
NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe)
|
rs907730518
|
0.00001
|
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)
|
rs535608443
|
0.00001
|
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile)
|
rs1477267428
|
0.00001
|
NM_000722.4(CACNA2D1):c.1508G>A (p.Arg503His)
|
rs758561622
|
0.00001
|
NM_000722.4(CACNA2D1):c.1526A>G (p.Asn509Ser)
|
rs1386287681
|
0.00001
|
NM_000722.4(CACNA2D1):c.1772C>T (p.Thr591Ile)
|
rs773781850
|
0.00001
|
NM_000722.4(CACNA2D1):c.1880A>G (p.Lys627Arg)
|
rs1064795828
|
0.00001
|
NM_000722.4(CACNA2D1):c.1906C>G (p.Leu636Val)
|
rs1218084026
|
0.00001
|
NM_000722.4(CACNA2D1):c.1924G>C (p.Glu642Gln)
|
rs775481386
|
0.00001
|
NM_000722.4(CACNA2D1):c.1955+6T>A
|
rs770715906
|
0.00001
|
NM_000722.4(CACNA2D1):c.1990A>T (p.Asn664Tyr)
|
rs777463785
|
0.00001
|
NM_000722.4(CACNA2D1):c.2060C>T (p.Ala687Val)
|
rs761738920
|
0.00001
|
NM_000722.4(CACNA2D1):c.2077G>A (p.Val693Ile)
|
rs767475523
|
0.00001
|
NM_000722.4(CACNA2D1):c.2321G>A (p.Gly774Asp)
|
rs776559898
|
0.00001
|
NM_000722.4(CACNA2D1):c.2602C>T (p.Pro868Ser)
|
rs1454596711
|
0.00001
|
NM_000722.4(CACNA2D1):c.2606G>A (p.Ser869Asn)
|
rs1379942443
|
0.00001
|
NM_000722.4(CACNA2D1):c.2683G>A (p.Gly895Ser)
|
rs772889955
|
0.00001
|
NM_000722.4(CACNA2D1):c.2720C>T (p.Ala907Val)
|
rs1214105842
|
0.00001
|
NM_000722.4(CACNA2D1):c.2785A>G (p.Ile929Val)
|
rs774978800
|
0.00001
|
NM_000722.4(CACNA2D1):c.2822G>A (p.Arg941Gln)
|
rs991607267
|
0.00001
|
NM_000722.4(CACNA2D1):c.2867C>A (p.Ser956Tyr)
|
rs768081623
|
0.00001
|
NM_000722.4(CACNA2D1):c.3109C>G (p.Gln1037Glu)
|
rs748929082
|
0.00001
|
NM_000722.4(CACNA2D1):c.3208T>C (p.Trp1070Arg)
|
rs1024010075
|
0.00001
|
NM_000722.4(CACNA2D1):c.341G>T (p.Arg114Ile)
|
rs1243465087
|
0.00001
|
NM_000722.4(CACNA2D1):c.394G>T (p.Asp132Tyr)
|
rs749965891
|
0.00001
|
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met)
|
rs756765026
|
0.00001
|
NM_000722.4(CACNA2D1):c.525C>A (p.Gly175=)
|
rs766849009
|
0.00001
|
NM_000722.4(CACNA2D1):c.68C>T (p.Ser23Leu)
|
rs532261094
|
0.00001
|
NM_000722.4(CACNA2D1):c.810A>C (p.Lys270Asn)
|
rs779135778
|
0.00001
|
NM_000722.4(CACNA2D1):c.961G>A (p.Ala321Thr)
|
rs747509072
|
0.00001
|
NM_001037.5(SCN1B):c.*305C>T
|
rs950244470
|
0.00001
|
NM_001037.5(SCN1B):c.-31G>A
|
rs776361009
|
0.00001
|
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)
|
rs757554677
|
0.00001
|
NM_001037.5(SCN1B):c.137G>T (p.Arg46Leu)
|
rs1024702691
|
0.00001
|
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met)
|
rs1064796847
|
0.00001
|
NM_001037.5(SCN1B):c.150C>T (p.Asn50=)
|
rs147073518
|
0.00001
|
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys)
|
rs774152936
|
0.00001
|
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys)
|
rs2064221873
|
0.00001
|
NM_001037.5(SCN1B):c.207+6C>T
|
rs771917643
|
0.00001
|
NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys)
|
rs746782800
|
0.00001
|
NM_001037.5(SCN1B):c.259G>A (p.Glu87Lys)
|
rs121434627
|
0.00001
|
NM_001037.5(SCN1B):c.263G>A (p.Gly88Asp)
|
rs2064227954
|
0.00001
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
NM_001037.5(SCN1B):c.286C>T (p.Arg96Trp)
|
rs368388359
|
0.00001
|
NM_001037.5(SCN1B):c.350G>A (p.Gly117Asp)
|
rs1313744180
|
0.00001
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
NM_001037.5(SCN1B):c.374G>A (p.Arg125His)
|
rs759839781
|
0.00001
|
NM_001037.5(SCN1B):c.379C>T (p.Leu127Phe)
|
rs2064229215
|
0.00001
|
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys)
|
rs1351632820
|
0.00001
|
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)
|
rs786205834
|
0.00001
|
NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys)
|
rs1265232012
|
0.00001
|
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys)
|
rs372630267
|
0.00001
|
NM_001037.5(SCN1B):c.448+103C>T
|
rs372041274
|
0.00001
|
NM_001037.5(SCN1B):c.448+123C>T
|
rs771174760
|
0.00001
|
NM_001037.5(SCN1B):c.448+124G>A
|
rs367608185
|
0.00001
|
NM_001037.5(SCN1B):c.448+126G>T
|
rs746419159
|
0.00001
|
NM_001037.5(SCN1B):c.448+127C>T
|
rs770344365
|
0.00001
|
NM_001037.5(SCN1B):c.448+151C>A
|
rs1060501167
|
0.00001
|
NM_001037.5(SCN1B):c.448+192C>T
|
rs72558027
|
0.00001
|
NM_001037.5(SCN1B):c.448+199G>A
|
rs946927516
|
0.00001
|
NM_001037.5(SCN1B):c.448+205del
|
rs764848712
|
0.00001
|
NM_001037.5(SCN1B):c.448+226G>A
|
rs757396314
|
0.00001
|
NM_001037.5(SCN1B):c.448+244A>T
|
rs1191213109
|
0.00001
|
NM_001037.5(SCN1B):c.448+252C>T
|
rs374235844
|
0.00001
|
NM_001037.5(SCN1B):c.448+270T>C
|
rs1173518227
|
0.00001
|
NM_001037.5(SCN1B):c.448+295G>T
|
rs786205828
|
0.00001
|
NM_001037.5(SCN1B):c.448+310T>C
|
rs1230072181
|
0.00001
|
NM_001037.5(SCN1B):c.448+346G>A
|
rs76302703
|
0.00001
|
NM_001037.5(SCN1B):c.448+354G>A
|
rs752552401
|
0.00001
|
NM_001037.5(SCN1B):c.448+45G>A
|
rs762453360
|
0.00001
|
NM_001037.5(SCN1B):c.448+7C>T
|
rs748379474
|
0.00001
|
NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr)
|
rs1034016541
|
0.00001
|
NM_001037.5(SCN1B):c.506T>C (p.Val169Ala)
|
rs1487883672
|
0.00001
|
NM_001037.5(SCN1B):c.523G>A (p.Val175Met)
|
rs776213428
|
0.00001
|
NM_001037.5(SCN1B):c.542G>A (p.Cys181Tyr)
|
rs1173931729
|
0.00001
|
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)
|
rs749338180
|
0.00001
|
NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro)
|
rs765702440
|
0.00001
|
NM_001037.5(SCN1B):c.621C>T (p.Ser207=)
|
rs1378669075
|
0.00001
|
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile)
|
rs77106213
|
0.00001
|
NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)
|
rs762553865
|
0.00001
|
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn)
|
rs786205837
|
0.00001
|
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)
|
rs767384862
|
0.00001
|
NM_001040151.2(SCN3B):c.-326C>G
|
rs886047906
|
0.00001
|
NM_001040151.2(SCN3B):c.260C>G (p.Pro87Arg)
|
rs371050389
|
0.00001
|
NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val)
|
rs587777556
|
0.00001
|
NM_001040151.2(SCN3B):c.392A>G (p.His131Arg)
|
rs1457138925
|
0.00001
|
NM_001040151.2(SCN3B):c.410C>T (p.Thr137Met)
|
rs750476444
|
0.00001
|
NM_001040151.2(SCN3B):c.584+2dup
|
rs1265045446
|
0.00001
|
NM_001040151.2(SCN3B):c.632T>G (p.Val211Gly)
|
rs750969469
|
0.00001
|
NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile)
|
rs782547342
|
0.00001
|
NM_001267550.2(TTN):c.95665G>A (p.Ala31889Thr)
|
rs1025105445
|
0.00001
|
NM_001377540.1(SLMAP):c.*38C>T
|
rs771357380
|
0.00001
|
NM_001377540.1(SLMAP):c.*55G>A
|
rs1210310709
|
0.00001
|
NM_001377540.1(SLMAP):c.1036A>G (p.Ile346Val)
|
rs945147965
|
0.00001
|
NM_001377540.1(SLMAP):c.1048G>A (p.Glu350Lys)
|
rs1205218778
|
0.00001
|
NM_001377540.1(SLMAP):c.1094C>A (p.Ala365Asp)
|
rs375002159
|
0.00001
|
NM_001377540.1(SLMAP):c.1109C>G (p.Thr370Ser)
|
rs766605023
|
0.00001
|
NM_001377540.1(SLMAP):c.1261G>A (p.Gly421Arg)
|
rs1203771969
|
0.00001
|
NM_001377540.1(SLMAP):c.1271C>T (p.Thr424Ile)
|
rs1423544190
|
0.00001
|
NM_001377540.1(SLMAP):c.1300+4A>G
|
rs1317261965
|
0.00001
|
NM_001377540.1(SLMAP):c.1334C>T (p.Ala445Val)
|
rs757740736
|
0.00001
|
NM_001377540.1(SLMAP):c.1354T>C (p.Ser452Pro)
|
rs373548009
|
0.00001
|
NM_001377540.1(SLMAP):c.1390T>A (p.Phe464Ile)
|
rs772143236
|
0.00001
|
NM_001377540.1(SLMAP):c.1690G>A (p.Val564Ile)
|
rs570222284
|
0.00001
|
NM_001377540.1(SLMAP):c.1810C>T (p.Leu604Phe)
|
rs777679999
|
0.00001
|
NM_001377540.1(SLMAP):c.1843C>T (p.Arg615Trp)
|
rs1379169914
|
0.00001
|
NM_001377540.1(SLMAP):c.1919C>T (p.Ala640Val)
|
rs762174645
|
0.00001
|
NM_001377540.1(SLMAP):c.2117G>A (p.Arg706Gln)
|
rs762620820
|
0.00001
|
NM_001377540.1(SLMAP):c.2167A>G (p.Ser723Gly)
|
rs764100894
|
0.00001
|
NM_001377540.1(SLMAP):c.2213A>T (p.Gln738Leu)
|
rs754097857
|
0.00001
|
NM_001377540.1(SLMAP):c.2235G>C (p.Gln745His)
|
rs758343458
|
0.00001
|
NM_001377540.1(SLMAP):c.2286C>A (p.Asn762Lys)
|
rs975284095
|
0.00001
|
NM_001377540.1(SLMAP):c.2394G>T (p.Glu798Asp)
|
rs750893840
|
0.00001
|
NM_001377540.1(SLMAP):c.304A>G (p.Ile102Val)
|
rs756212703
|
0.00001
|
NM_001377540.1(SLMAP):c.346+4C>T
|
rs201859602
|
0.00001
|
NM_001377540.1(SLMAP):c.412C>T (p.Arg138Cys)
|
rs748820617
|
0.00001
|
NM_001377540.1(SLMAP):c.480G>C (p.Met160Ile)
|
rs770086716
|
0.00001
|
NM_001377540.1(SLMAP):c.519+6A>C
|
rs2094439140
|
0.00001
|
NM_001377540.1(SLMAP):c.532C>T (p.Arg178Trp)
|
rs766644866
|
0.00001
|
NM_001377540.1(SLMAP):c.563C>T (p.Thr188Met)
|
rs763740777
|
0.00001
|
NM_001377540.1(SLMAP):c.572G>A (p.Arg191Gln)
|
rs756779633
|
0.00001
|
NM_001377540.1(SLMAP):c.723A>G (p.Ile241Met)
|
rs760182153
|
0.00001
|
NM_001377540.1(SLMAP):c.824T>C (p.Val275Ala)
|
rs138336324
|
0.00001
|
NM_001377540.1(SLMAP):c.880G>A (p.Glu294Lys)
|
rs770596419
|
0.00001
|
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=)
|
rs773858454
|
0.00001
|
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)
|
rs372362132
|
0.00001
|
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)
|
rs766584545
|
0.00001
|
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp)
|
rs556299317
|
0.00001
|
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg)
|
rs752063865
|
0.00001
|
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser)
|
rs368674776
|
0.00001
|
NM_004982.4(KCNJ8):c.601G>A (p.Val201Ile)
|
rs750317966
|
0.00001
|
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys)
|
rs763650307
|
0.00001
|
NM_004982.4(KCNJ8):c.701C>T (p.Thr234Ile)
|
rs369660507
|
0.00001
|
NM_004982.4(KCNJ8):c.76C>T (p.Arg26Cys)
|
rs1341531219
|
0.00001
|
NM_004982.4(KCNJ8):c.967C>T (p.Arg323Cys)
|
rs764215606
|
0.00001
|
NM_005472.5(KCNE3):c.*38G>A
|
rs764717543
|
0.00001
|
NM_005472.5(KCNE3):c.113G>A (p.Gly38Glu)
|
rs757172223
|
0.00001
|
NM_005472.5(KCNE3):c.194T>C (p.Met65Thr)
|
rs1485350191
|
0.00001
|
NM_005472.5(KCNE3):c.222C>G (p.Ser74Arg)
|
rs760938276
|
0.00001
|
NM_005472.5(KCNE3):c.67G>C (p.Ala23Pro)
|
rs759641427
|
0.00001
|
NM_005477.3(HCN4):c.1073T>C (p.Ile358Thr)
|
rs774060688
|
0.00001
|
NM_005477.3(HCN4):c.1115G>A (p.Arg372Gln)
|
rs748658688
|
0.00001
|
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)
|
rs758468167
|
0.00001
|
NM_005477.3(HCN4):c.124G>C (p.Asp42His)
|
rs752597565
|
0.00001
|
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser)
|
rs573588965
|
0.00001
|
NM_005477.3(HCN4):c.1331A>T (p.Asp444Val)
|
rs1444329166
|
0.00001
|
NM_005477.3(HCN4):c.134G>T (p.Arg45Leu)
|
rs1416460262
|
0.00001
|
NM_005477.3(HCN4):c.1402G>A (p.Ala468Thr)
|
rs372632530
|
0.00001
|
NM_005477.3(HCN4):c.1403C>T (p.Ala468Val)
|
rs760413254
|
0.00001
|
NM_005477.3(HCN4):c.1447C>T (p.Arg483Trp)
|
rs1304145729
|
0.00001
|
NM_005477.3(HCN4):c.1465A>G (p.Met489Val)
|
rs1157049194
|
0.00001
|
NM_005477.3(HCN4):c.1474G>A (p.Val492Ile)
|
rs772144022
|
0.00001
|
NM_005477.3(HCN4):c.152G>A (p.Arg51Gln)
|
rs1425211418
|
0.00001
|
NM_005477.3(HCN4):c.1571G>A (p.Arg524Gln)
|
rs199852438
|
0.00001
|
NM_005477.3(HCN4):c.1576C>G (p.Gln526Glu)
|
rs1474216387
|
0.00001
|
NM_005477.3(HCN4):c.1590+6T>A
|
rs1040178011
|
0.00001
|
NM_005477.3(HCN4):c.1612A>G (p.Met538Val)
|
rs375571257
|
0.00001
|
NM_005477.3(HCN4):c.1648C>T (p.Arg550Cys)
|
rs150691273
|
0.00001
|
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)
|
rs104894485
|
0.00001
|
NM_005477.3(HCN4):c.1661A>G (p.Tyr554Cys)
|
rs767926374
|
0.00001
|
NM_005477.3(HCN4):c.1693G>A (p.Asp565Asn)
|
rs201811340
|
0.00001
|
NM_005477.3(HCN4):c.1748A>G (p.Asn583Ser)
|
rs1204195890
|
0.00001
|
NM_005477.3(HCN4):c.1760G>A (p.Arg587Gln)
|
rs761600737
|
0.00001
|
NM_005477.3(HCN4):c.1796C>T (p.Ala599Val)
|
rs775019344
|
0.00001
|
NM_005477.3(HCN4):c.17C>T (p.Pro6Leu)
|
rs772656493
|
0.00001
|
NM_005477.3(HCN4):c.1820T>C (p.Met607Thr)
|
rs1483177160
|
0.00001
|
NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys)
|
rs201319883
|
0.00001
|
NM_005477.3(HCN4):c.1896G>A (p.Met632Ile)
|
rs200737571
|
0.00001
|
NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)
|
rs1265876338
|
0.00001
|
NM_005477.3(HCN4):c.1996C>T (p.Arg666Trp)
|
rs199943122
|
0.00001
|
NM_005477.3(HCN4):c.2003G>A (p.Arg668Gln)
|
rs757268783
|
0.00001
|
NM_005477.3(HCN4):c.2026G>A (p.Asp676Asn)
|
rs145134839
|
0.00001
|
NM_005477.3(HCN4):c.2028C>A (p.Asp676Glu)
|
rs1060500102
|
0.00001
|
NM_005477.3(HCN4):c.202C>G (p.Arg68Gly)
|
rs962306052
|
0.00001
|
NM_005477.3(HCN4):c.2033A>G (p.Tyr678Cys)
|
rs1449535764
|
0.00001
|
NM_005477.3(HCN4):c.2053A>C (p.Ser685Arg)
|
rs1161776375
|
0.00001
|
NM_005477.3(HCN4):c.2092A>G (p.Met698Val)
|
rs1181444062
|
0.00001
|
NM_005477.3(HCN4):c.209C>T (p.Ser70Leu)
|
rs771533338
|
0.00001
|
NM_005477.3(HCN4):c.2151G>C (p.Lys717Asn)
|
rs1360972645
|
0.00001
|
NM_005477.3(HCN4):c.2182G>A (p.Asp728Asn)
|
rs200468312
|
0.00001
|
NM_005477.3(HCN4):c.2198T>C (p.Val733Ala)
|
rs1482088586
|
0.00001
|
NM_005477.3(HCN4):c.2255T>C (p.Met752Thr)
|
rs768773295
|
0.00001
|
NM_005477.3(HCN4):c.2260C>T (p.His754Tyr)
|
rs1323887002
|
0.00001
|
NM_005477.3(HCN4):c.2267C>T (p.Ala756Val)
|
rs745617328
|
0.00001
|
NM_005477.3(HCN4):c.2273G>A (p.Arg758His)
|
rs373284500
|
0.00001
|
NM_005477.3(HCN4):c.2309C>T (p.Thr770Met)
|
rs763021264
|
0.00001
|
NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr)
|
rs148714049
|
0.00001
|
NM_005477.3(HCN4):c.2327C>T (p.Pro776Leu)
|
rs1008825259
|
0.00001
|
NM_005477.3(HCN4):c.2356G>A (p.Ala786Thr)
|
rs771516987
|
0.00001
|
NM_005477.3(HCN4):c.2377A>C (p.Ile793Leu)
|
rs1302650781
|
0.00001
|
NM_005477.3(HCN4):c.2399G>A (p.Arg800His)
|
rs375180021
|
0.00001
|
NM_005477.3(HCN4):c.2408C>T (p.Ala803Val)
|
rs764336375
|
0.00001
|
NM_005477.3(HCN4):c.2422C>T (p.Pro808Ser)
|
rs2042879557
|
0.00001
|
NM_005477.3(HCN4):c.2429C>T (p.Pro810Leu)
|
rs2042879478
|
0.00001
|
NM_005477.3(HCN4):c.2437G>A (p.Gly813Arg)
|
rs766096127
|
0.00001
|
NM_005477.3(HCN4):c.2452G>A (p.Gly818Ser)
|
rs1427767002
|
0.00001
|
NM_005477.3(HCN4):c.2470A>G (p.Arg824Gly)
|
rs1404251013
|
0.00001
|
NM_005477.3(HCN4):c.2495T>C (p.Leu832Pro)
|
rs1404692878
|
0.00001
|
NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr)
|
rs777023781
|
0.00001
|
NM_005477.3(HCN4):c.2545G>T (p.Val849Leu)
|
rs202138767
|
0.00001
|
NM_005477.3(HCN4):c.2563T>C (p.Ser855Pro)
|
rs779963031
|
0.00001
|
NM_005477.3(HCN4):c.2630C>T (p.Ser877Leu)
|
rs1265789896
|
0.00001
|
NM_005477.3(HCN4):c.2653G>A (p.Gly885Arg)
|
rs757066783
|
0.00001
|
NM_005477.3(HCN4):c.2711T>C (p.Ile904Thr)
|
rs1179112808
|
0.00001
|
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg)
|
rs373572497
|
0.00001
|
NM_005477.3(HCN4):c.2738C>T (p.Ala913Val)
|
rs777560053
|
0.00001
|
NM_005477.3(HCN4):c.2744G>A (p.Gly915Asp)
|
rs1306789664
|
0.00001
|
NM_005477.3(HCN4):c.2810A>T (p.Gln937Leu)
|
rs770942098
|
0.00001
|
NM_005477.3(HCN4):c.2828C>A (p.Pro943His)
|
rs1455977664
|
0.00001
|
NM_005477.3(HCN4):c.2852G>A (p.Gly951Asp)
|
rs2042874743
|
0.00001
|
NM_005477.3(HCN4):c.2902C>T (p.Pro968Ser)
|
rs759692338
|
0.00001
|
NM_005477.3(HCN4):c.2912G>A (p.Ser971Asn)
|
rs1231727151
|
0.00001
|
NM_005477.3(HCN4):c.2914C>T (p.Pro972Ser)
|
rs771946238
|
0.00001
|
NM_005477.3(HCN4):c.2939G>C (p.Gly980Ala)
|
rs367719274
|
0.00001
|
NM_005477.3(HCN4):c.2992C>G (p.Pro998Ala)
|
rs761666368
|
0.00001
|
NM_005477.3(HCN4):c.3011C>T (p.Pro1004Leu)
|
rs1486893598
|
0.00001
|
NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser)
|
rs748634893
|
0.00001
|
NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro)
|
rs890395300
|
0.00001
|
NM_005477.3(HCN4):c.3059C>T (p.Thr1020Ile)
|
rs764138171
|
0.00001
|
NM_005477.3(HCN4):c.3062C>T (p.Pro1021Leu)
|
rs1469282261
|
0.00001
|
NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter)
|
rs762950777
|
0.00001
|
NM_005477.3(HCN4):c.3071G>T (p.Gly1024Val)
|
rs775491475
|
0.00001
|
NM_005477.3(HCN4):c.3106A>G (p.Arg1036Gly)
|
rs1477955790
|
0.00001
|
NM_005477.3(HCN4):c.310G>T (p.Gly104Cys)
|
rs757662055
|
0.00001
|
NM_005477.3(HCN4):c.3130C>T (p.Arg1044Trp)
|
rs553950644
|
0.00001
|
NM_005477.3(HCN4):c.3166C>A (p.Pro1056Thr)
|
rs1022382647
|
0.00001
|
NM_005477.3(HCN4):c.3169_3189dup (p.Ala1057_Pro1063dup)
|
rs1486632648
|
0.00001
|
NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala)
|
rs1064796786
|
0.00001
|
NM_005477.3(HCN4):c.3178C>T (p.Pro1060Ser)
|
rs1160260831
|
0.00001
|
NM_005477.3(HCN4):c.3182C>G (p.Pro1061Arg)
|
rs1010963303
|
0.00001
|
NM_005477.3(HCN4):c.3203G>A (p.Arg1068His)
|
rs776270218
|
0.00001
|
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp)
|
rs770658894
|
0.00001
|
NM_005477.3(HCN4):c.3206G>A (p.Arg1069Gln)
|
rs760242560
|
0.00001
|
NM_005477.3(HCN4):c.3233G>A (p.Arg1078His)
|
rs1429735613
|
0.00001
|
NM_005477.3(HCN4):c.3251A>T (p.Lys1084Met)
|
rs751716200
|
0.00001
|
NM_005477.3(HCN4):c.3289G>A (p.Gly1097Arg)
|
rs753734843
|
0.00001
|
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)
|
rs760392343
|
0.00001
|
NM_005477.3(HCN4):c.331G>A (p.Gly111Ser)
|
rs758437800
|
0.00001
|
NM_005477.3(HCN4):c.3320A>G (p.His1107Arg)
|
rs761260529
|
0.00001
|
NM_005477.3(HCN4):c.3359C>T (p.Pro1120Leu)
|
rs2042868728
|
0.00001
|
NM_005477.3(HCN4):c.3363G>C (p.Arg1121Ser)
|
rs794727919
|
0.00001
|
NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser)
|
rs779132775
|
0.00001
|
NM_005477.3(HCN4):c.3388G>A (p.Gly1130Arg)
|
rs1326171404
|
0.00001
|
NM_005477.3(HCN4):c.3412C>G (p.Pro1138Ala)
|
rs915209025
|
0.00001
|
NM_005477.3(HCN4):c.3448G>A (p.Val1150Ile)
|
rs772491303
|
0.00001
|
NM_005477.3(HCN4):c.3487C>A (p.Pro1163Thr)
|
rs779811451
|
0.00001
|
NM_005477.3(HCN4):c.3490C>G (p.Pro1164Ala)
|
rs750255859
|
0.00001
|
NM_005477.3(HCN4):c.3503T>C (p.Phe1168Ser)
|
rs1374291021
|
0.00001
|
NM_005477.3(HCN4):c.3512G>T (p.Arg1171Ile)
|
rs751152874
|
0.00001
|
NM_005477.3(HCN4):c.3526G>C (p.Gly1176Arg)
|
rs1060500104
|
0.00001
|
NM_005477.3(HCN4):c.413C>T (p.Ser138Phe)
|
rs1567801864
|
0.00001
|
NM_005477.3(HCN4):c.433C>G (p.Pro145Ala)
|
rs886043525
|
0.00001
|
NM_005477.3(HCN4):c.484G>A (p.Ala162Thr)
|
rs1567801801
|
0.00001
|
NM_005477.3(HCN4):c.493C>T (p.Pro165Ser)
|
rs1489387068
|
0.00001
|
NM_005477.3(HCN4):c.530C>T (p.Ala177Val)
|
rs755045896
|
0.00001
|
NM_005477.3(HCN4):c.539A>C (p.Glu180Ala)
|
rs779906361
|
0.00001
|
NM_005477.3(HCN4):c.548C>G (p.Ser183Trp)
|
rs1016027191
|
0.00001
|
NM_005477.3(HCN4):c.550G>A (p.Val184Met)
|
rs1450435726
|
0.00001
|
NM_005477.3(HCN4):c.577G>T (p.Gly193Cys)
|
rs2043135036
|
0.00001
|
NM_005477.3(HCN4):c.594C>G (p.Asp198Glu)
|
rs894325793
|
0.00001
|
NM_005477.3(HCN4):c.595C>A (p.Gln199Lys)
|
rs1055534495
|
0.00001
|
NM_005477.3(HCN4):c.625G>A (p.Gly209Ser)
|
rs756993031
|
0.00001
|
NM_005477.3(HCN4):c.658G>T (p.Ala220Ser)
|
rs953554623
|
0.00001
|
NM_005477.3(HCN4):c.661A>G (p.Met221Val)
|
rs371771170
|
0.00001
|
NM_005477.3(HCN4):c.663G>T (p.Met221Ile)
|
rs1160951266
|
0.00001
|
NM_005477.3(HCN4):c.673G>A (p.Gly225Arg)
|
rs767982466
|
0.00001
|
NM_005477.3(HCN4):c.697A>T (p.Met233Leu)
|
rs749389306
|
0.00001
|
NM_005477.3(HCN4):c.6C>G (p.Asp2Glu)
|
rs1230881569
|
0.00001
|
NM_005477.3(HCN4):c.743A>G (p.Lys248Arg)
|
rs191744064
|
0.00001
|
NM_005477.3(HCN4):c.783C>A (p.Phe261Leu)
|
rs368583153
|
0.00001
|
NM_005477.3(HCN4):c.8A>C (p.Lys3Thr)
|
rs1267513363
|
0.00001
|
NM_005477.3(HCN4):c.915C>A (p.Phe305Leu)
|
rs1272107414
|
0.00001
|
NM_005477.3(HCN4):c.91G>A (p.Asp31Asn)
|
rs757500423
|
0.00001
|
NM_005477.3(HCN4):c.943C>T (p.Arg315Cys)
|
rs1340301658
|
0.00001
|
NM_005477.3(HCN4):c.975G>T (p.Glu325Asp)
|
rs778657724
|
0.00001
|
NM_005477.3(HCN4):c.988C>A (p.Pro330Thr)
|
rs1555477316
|
0.00001
|
NM_005477.3(HCN4):c.989C>T (p.Pro330Leu)
|
rs370442588
|
0.00001
|
NM_005477.3(HCN4):c.994C>T (p.Arg332Trp)
|
rs141185786
|
0.00001
|
NM_006514.4(SCN10A):c.101C>G (p.Thr34Arg)
|
rs1025338659
|
0.00001
|
NM_006514.4(SCN10A):c.1078C>T (p.Arg360Cys)
|
rs773808340
|
0.00001
|
NM_006514.4(SCN10A):c.1325T>G (p.Leu442Arg)
|
rs1373914068
|
0.00001
|
NM_006514.4(SCN10A):c.1418A>T (p.Asp473Val)
|
rs774806601
|
0.00001
|
NM_006514.4(SCN10A):c.1433G>A (p.Arg478His)
|
rs1553620983
|
0.00001
|
NM_006514.4(SCN10A):c.1435T>C (p.Ser479Pro)
|
rs1245630548
|
0.00001
|
NM_006514.4(SCN10A):c.1469T>C (p.Leu490Pro)
|
rs745630620
|
0.00001
|
NM_006514.4(SCN10A):c.149A>C (p.Lys50Thr)
|
rs757655001
|
0.00001
|
NM_006514.4(SCN10A):c.1513T>C (p.Phe505Leu)
|
rs771671647
|
0.00001
|
NM_006514.4(SCN10A):c.1522C>T (p.Arg508Trp)
|
rs112774699
|
0.00001
|
NM_006514.4(SCN10A):c.1523G>A (p.Arg508Gln)
|
rs368776882
|
0.00001
|
NM_006514.4(SCN10A):c.1529C>T (p.Pro510Leu)
|
rs780315709
|
0.00001
|
NM_006514.4(SCN10A):c.1591G>A (p.Glu531Lys)
|
rs866716316
|
0.00001
|
NM_006514.4(SCN10A):c.1600C>T (p.Arg534Trp)
|
rs542554745
|
0.00001
|
NM_006514.4(SCN10A):c.1649C>T (p.Pro550Leu)
|
rs1466610597
|
0.00001
|
NM_006514.4(SCN10A):c.1711C>A (p.Pro571Thr)
|
rs1243498426
|
0.00001
|
NM_006514.4(SCN10A):c.1715C>T (p.Pro572Leu)
|
rs553784643
|
0.00001
|
NM_006514.4(SCN10A):c.1730T>A (p.Leu577His)
|
rs1060501716
|
0.00001
|
NM_006514.4(SCN10A):c.1942T>A (p.Cys648Ser)
|
rs1553619038
|
0.00001
|
NM_006514.4(SCN10A):c.1945C>T (p.Pro649Ser)
|
rs747848559
|
0.00001
|
NM_006514.4(SCN10A):c.1991A>G (p.Asp664Gly)
|
rs1177831483
|
0.00001
|
NM_006514.4(SCN10A):c.2015C>T (p.Thr672Ile)
|
rs759953813
|
0.00001
|
NM_006514.4(SCN10A):c.2064C>T (p.Gly688=)
|
rs758224718
|
0.00001
|
NM_006514.4(SCN10A):c.2099G>A (p.Gly700Asp)
|
rs1250669621
|
0.00001
|
NM_006514.4(SCN10A):c.2158G>A (p.Asp720Asn)
|
rs781354273
|
0.00001
|
NM_006514.4(SCN10A):c.2209G>A (p.Val737Ile)
|
rs764654464
|
0.00001
|
NM_006514.4(SCN10A):c.2222T>G (p.Leu741Arg)
|
rs201342036
|
0.00001
|
NM_006514.4(SCN10A):c.2267G>A (p.Arg756Gln)
|
rs746092299
|
0.00001
|
NM_006514.4(SCN10A):c.2305T>C (p.Ser769Pro)
|
rs1330358186
|
0.00001
|
NM_006514.4(SCN10A):c.2384C>T (p.Ala795Val)
|
rs781527310
|
0.00001
|
NM_006514.4(SCN10A):c.2431G>C (p.Glu811Gln)
|
rs77049337
|
0.00001
|
NM_006514.4(SCN10A):c.2458A>G (p.Ile820Val)
|
rs770101312
|
0.00001
|
NM_006514.4(SCN10A):c.2483C>T (p.Pro828Leu)
|
rs749000689
|
0.00001
|
NM_006514.4(SCN10A):c.2486G>A (p.Arg829His)
|
rs752623537
|
0.00001
|
NM_006514.4(SCN10A):c.2521A>G (p.Ile841Val)
|
rs762119038
|
0.00001
|
NM_006514.4(SCN10A):c.2527T>C (p.Phe843Leu)
|
rs768541787
|
0.00001
|
NM_006514.4(SCN10A):c.2540G>A (p.Cys847Tyr)
|
rs772757323
|
0.00001
|
NM_006514.4(SCN10A):c.257A>G (p.Tyr86Cys)
|
rs1173154320
|
0.00001
|
NM_006514.4(SCN10A):c.25G>A (p.Glu9Lys)
|
rs747174454
|
0.00001
|
NM_006514.4(SCN10A):c.2710G>A (p.Asp904Asn)
|
rs774493534
|
0.00001
|
NM_006514.4(SCN10A):c.2749A>G (p.Ile917Val)
|
rs995638455
|
0.00001
|
NM_006514.4(SCN10A):c.2764C>T (p.His922Tyr)
|
rs763764330
|
0.00001
|
NM_006514.4(SCN10A):c.2767C>T (p.Arg923Cys)
|
rs267599803
|
0.00001
|
NM_006514.4(SCN10A):c.2833C>T (p.Pro945Ser)
|
rs372907454
|
0.00001
|
NM_006514.4(SCN10A):c.2852T>A (p.Leu951His)
|
rs755728923
|
0.00001
|
NM_006514.4(SCN10A):c.2923C>T (p.Gln975Ter)
|
rs755553717
|
0.00001
|
NM_006514.4(SCN10A):c.2935G>T (p.Gly979Cys)
|
rs752287839
|
0.00001
|
NM_006514.4(SCN10A):c.2939C>T (p.Pro980Leu)
|
rs751340142
|
0.00001
|
NM_006514.4(SCN10A):c.2965G>A (p.Ala989Thr)
|
rs766280701
|
0.00001
|
NM_006514.4(SCN10A):c.2993C>T (p.Pro998Leu)
|
rs775672433
|
0.00001
|
NM_006514.4(SCN10A):c.2T>C (p.Met1Thr)
|
rs749292402
|
0.00001
|
NM_006514.4(SCN10A):c.3000T>A (p.Ala1000=)
|
rs778351672
|
0.00001
|
NM_006514.4(SCN10A):c.3087+2T>C
|
rs765046340
|
0.00001
|
NM_006514.4(SCN10A):c.3114G>T (p.Arg1038Ser)
|
rs773394234
|
0.00001
|
NM_006514.4(SCN10A):c.3130A>G (p.Thr1044Ala)
|
rs147093541
|
0.00001
|
NM_006514.4(SCN10A):c.3151G>A (p.Gly1051Arg)
|
rs374447261
|
0.00001
|
NM_006514.4(SCN10A):c.319A>T (p.Thr107Ser)
|
rs757050845
|
0.00001
|
NM_006514.4(SCN10A):c.3214C>T (p.Gln1072Ter)
|
rs1458693100
|
0.00001
|
NM_006514.4(SCN10A):c.322C>T (p.Arg108Trp)
|
rs1131691525
|
0.00001
|
NM_006514.4(SCN10A):c.323G>A (p.Arg108Gln)
|
rs141278729
|
0.00001
|
NM_006514.4(SCN10A):c.3280C>A (p.Pro1094Thr)
|
rs973127854
|
0.00001
|
NM_006514.4(SCN10A):c.3289A>C (p.Ile1097Leu)
|
rs1397301108
|
0.00001
|
NM_006514.4(SCN10A):c.3328G>C (p.Glu1110Gln)
|
rs201871493
|
0.00001
|
NM_006514.4(SCN10A):c.3374G>C (p.Cys1125Ser)
|
rs1481868189
|
0.00001
|
NM_006514.4(SCN10A):c.3409G>A (p.Val1137Met)
|
rs1278228854
|
0.00001
|
NM_006514.4(SCN10A):c.3421G>A (p.Val1141Met)
|
rs112412281
|
0.00001
|
NM_006514.4(SCN10A):c.3476T>A (p.Ile1159Asn)
|
rs777240104
|
0.00001
|
NM_006514.4(SCN10A):c.3479T>C (p.Phe1160Ser)
|
rs2063398350
|
0.00001
|
NM_006514.4(SCN10A):c.3509C>A (p.Ala1170Asp)
|
rs267599801
|
0.00001
|
NM_006514.4(SCN10A):c.3521A>G (p.Tyr1174Cys)
|
rs1167279918
|
0.00001
|
NM_006514.4(SCN10A):c.3550G>C (p.Ala1184Pro)
|
rs759842238
|
0.00001
|
NM_006514.4(SCN10A):c.3580A>T (p.Thr1194Ser)
|
rs780945258
|
0.00001
|
NM_006514.4(SCN10A):c.3619G>T (p.Ala1207Ser)
|
rs756162245
|
0.00001
|
NM_006514.4(SCN10A):c.3655del (p.Cys1219fs)
|
rs1559419984
|
0.00001
|
NM_006514.4(SCN10A):c.3667T>C (p.Phe1223Leu)
|
rs1334180362
|
0.00001
|
NM_006514.4(SCN10A):c.3682-2A>T
|
rs768207163
|
0.00001
|
NM_006514.4(SCN10A):c.3691A>T (p.Ile1231Leu)
|
rs775185585
|
0.00001
|
NM_006514.4(SCN10A):c.3695G>T (p.Ser1232Ile)
|
rs373750985
|
0.00001
|
NM_006514.4(SCN10A):c.3748C>T (p.Arg1250Ter)
|
rs202134330
|
0.00001
|
NM_006514.4(SCN10A):c.3758G>A (p.Arg1253His)
|
rs770705124
|
0.00001
|
NM_006514.4(SCN10A):c.3767G>A (p.Arg1256Gln)
|
rs1280130231
|
0.00001
|
NM_006514.4(SCN10A):c.3776G>A (p.Arg1259Gln)
|
rs957441210
|
0.00001
|
NM_006514.4(SCN10A):c.3802C>T (p.Arg1268Trp)
|
rs766044301
|
0.00001
|
NM_006514.4(SCN10A):c.3804+1G>A
|
rs1363445455
|
0.00001
|
NM_006514.4(SCN10A):c.3829G>A (p.Ala1277Thr)
|
rs1296278088
|
0.00001
|
NM_006514.4(SCN10A):c.3890T>G (p.Ile1297Ser)
|
rs978977328
|
0.00001
|
NM_006514.4(SCN10A):c.3971C>T (p.Ser1324Leu)
|
rs756046052
|
0.00001
|
NM_006514.4(SCN10A):c.4016G>T (p.Gly1339Val)
|
rs1191498319
|
0.00001
|
NM_006514.4(SCN10A):c.4025T>C (p.Phe1342Ser)
|
rs763963972
|
0.00001
|
NM_006514.4(SCN10A):c.4028G>A (p.Trp1343Ter)
|
rs756036768
|
0.00001
|
NM_006514.4(SCN10A):c.410C>T (p.Thr137Met)
|
rs148663098
|
0.00001
|
NM_006514.4(SCN10A):c.4118T>G (p.Met1373Arg)
|
rs1131691400
|
0.00001
|
NM_006514.4(SCN10A):c.4138C>T (p.Arg1380Trp)
|
rs371600996
|
0.00001
|
NM_006514.4(SCN10A):c.4141G>A (p.Glu1381Lys)
|
rs1447191624
|
0.00001
|
NM_006514.4(SCN10A):c.4217G>A (p.Gly1406Asp)
|
rs201280426
|
0.00001
|
NM_006514.4(SCN10A):c.4266T>A (p.Asn1422Lys)
|
rs1334461772
|
0.00001
|
NM_006514.4(SCN10A):c.4327T>C (p.Tyr1443His)
|
rs762798134
|
0.00001
|
NM_006514.4(SCN10A):c.4376C>T (p.Pro1459Leu)
|
rs757704367
|
0.00001
|
NM_006514.4(SCN10A):c.43C>G (p.Arg15Gly)
|
rs754392803
|
0.00001
|
NM_006514.4(SCN10A):c.4438A>G (p.Ile1480Val)
|
rs1406169129
|
0.00001
|
NM_006514.4(SCN10A):c.4642G>T (p.Val1548Phe)
|
rs762610159
|
0.00001
|
NM_006514.4(SCN10A):c.4663A>T (p.Ile1555Phe)
|
rs754130748
|
0.00001
|
NM_006514.4(SCN10A):c.467T>C (p.Ile156Thr)
|
rs773812695
|
0.00001
|
NM_006514.4(SCN10A):c.470+5G>A
|
rs748885768
|
0.00001
|
NM_006514.4(SCN10A):c.4724T>C (p.Ile1575Thr)
|
rs1064796379
|
0.00001
|
NM_006514.4(SCN10A):c.4744C>T (p.Arg1582Cys)
|
rs569261408
|
0.00001
|
NM_006514.4(SCN10A):c.4763G>A (p.Arg1588Gln)
|
rs376439863
|
0.00001
|
NM_006514.4(SCN10A):c.4766C>T (p.Ala1589Val)
|
rs753004431
|
0.00001
|
NM_006514.4(SCN10A):c.4783A>G (p.Thr1595Ala)
|
rs747919920
|
0.00001
|
NM_006514.4(SCN10A):c.4883G>T (p.Ser1628Ile)
|
rs1279255819
|
0.00001
|
NM_006514.4(SCN10A):c.4892A>G (p.His1631Arg)
|
rs771997067
|
0.00001
|
NM_006514.4(SCN10A):c.4948A>T (p.Ser1650Cys)
|
rs780649338
|
0.00001
|
NM_006514.4(SCN10A):c.4979C>T (p.Ser1660Leu)
|
rs998456008
|
0.00001
|
NM_006514.4(SCN10A):c.5036A>T (p.Asp1679Val)
|
rs756686221
|
0.00001
|
NM_006514.4(SCN10A):c.5048C>T (p.Pro1683Leu)
|
rs763674655
|
0.00001
|
NM_006514.4(SCN10A):c.5066G>A (p.Arg1689Lys)
|
rs2063115980
|
0.00001
|
NM_006514.4(SCN10A):c.509T>G (p.Ile170Arg)
|
rs769305453
|
0.00001
|
NM_006514.4(SCN10A):c.5104T>C (p.Phe1702Leu)
|
rs2063115140
|
0.00001
|
NM_006514.4(SCN10A):c.5177A>G (p.Asn1726Ser)
|
rs1420941706
|
0.00001
|
NM_006514.4(SCN10A):c.5186C>T (p.Thr1729Met)
|
rs751384151
|
0.00001
|
NM_006514.4(SCN10A):c.5249A>G (p.Lys1750Arg)
|
rs145589241
|
0.00001
|
NM_006514.4(SCN10A):c.5301T>G (p.Phe1767Leu)
|
rs2063111131
|
0.00001
|
NM_006514.4(SCN10A):c.5306A>C (p.Asp1769Ala)
|
rs377121469
|
0.00001
|
NM_006514.4(SCN10A):c.5307C>G (p.Asp1769Glu)
|
rs774474141
|
0.00001
|
NM_006514.4(SCN10A):c.5371C>A (p.Pro1791Thr)
|
rs371803816
|
0.00001
|
NM_006514.4(SCN10A):c.5446G>A (p.Gly1816Arg)
|
rs779692735
|
0.00001
|
NM_006514.4(SCN10A):c.5468C>T (p.Ala1823Val)
|
rs1201354997
|
0.00001
|
NM_006514.4(SCN10A):c.5516A>G (p.Tyr1839Cys)
|
rs777591347
|
0.00001
|
NM_006514.4(SCN10A):c.5542T>C (p.Trp1848Arg)
|
rs1575914976
|
0.00001
|
NM_006514.4(SCN10A):c.5587C>T (p.Arg1863Trp)
|
rs370779258
|
0.00001
|
NM_006514.4(SCN10A):c.5588G>A (p.Arg1863Gln)
|
rs191869263
|
0.00001
|
NM_006514.4(SCN10A):c.5600T>G (p.Leu1867Arg)
|
rs373299553
|
0.00001
|
NM_006514.4(SCN10A):c.5613G>A (p.Met1871Ile)
|
rs370483003
|
0.00001
|
NM_006514.4(SCN10A):c.5626A>G (p.Thr1876Ala)
|
rs759136534
|
0.00001
|
NM_006514.4(SCN10A):c.5629C>T (p.Pro1877Ser)
|
rs770710528
|
0.00001
|
NM_006514.4(SCN10A):c.5677G>A (p.Gly1893Ser)
|
rs1195353680
|
0.00001
|
NM_006514.4(SCN10A):c.5700T>A (p.Asn1900Lys)
|
rs764330725
|
0.00001
|
NM_006514.4(SCN10A):c.5866C>A (p.Pro1956Thr)
|
rs748441157
|
0.00001
|
NM_006514.4(SCN10A):c.607G>A (p.Gly203Ser)
|
rs774347834
|
0.00001
|
NM_006514.4(SCN10A):c.635C>T (p.Ser212Leu)
|
rs779471280
|
0.00001
|
NM_006514.4(SCN10A):c.691+3G>A
|
rs2063898424
|
0.00001
|
NM_006514.4(SCN10A):c.742G>C (p.Asp248His)
|
rs754623438
|
0.00001
|
NM_006514.4(SCN10A):c.753C>G (p.Ile251Met)
|
rs747296872
|
0.00001
|
NM_006514.4(SCN10A):c.760A>T (p.Ile254Phe)
|
rs766143752
|
0.00001
|
NM_006514.4(SCN10A):c.773G>T (p.Ser258Ile)
|
rs758197140
|
0.00001
|
NM_006514.4(SCN10A):c.827G>A (p.Cys276Tyr)
|
rs1251019283
|
0.00001
|
NM_006514.4(SCN10A):c.883+1G>A
|
rs757136675
|
0.00001
|
NM_006514.4(SCN10A):c.883C>T (p.Pro295Ser)
|
rs371909817
|
0.00001
|
NM_006514.4(SCN10A):c.890T>C (p.Ile297Thr)
|
rs553913580
|
0.00001
|
NM_012282.4(KCNE5):c.281C>G (p.Pro94Arg)
|
rs762719236
|
0.00001
|
NM_012282.4(KCNE5):c.286C>G (p.Gln96Glu)
|
rs769195237
|
0.00001
|
NM_012282.4(KCNE5):c.304G>A (p.Glu102Lys)
|
rs1397229944
|
0.00001
|
NM_015141.3(GPD1L):c.-132G>A
|
rs886058331
|
0.00001
|
NM_015141.4(GPD1L):c.1009G>C (p.Val337Leu)
|
rs766273195
|
0.00001
|
NM_015141.4(GPD1L):c.1019T>C (p.Met340Thr)
|
rs751063902
|
0.00001
|
NM_015141.4(GPD1L):c.1A>G (p.Met1Val)
|
rs148643167
|
0.00001
|
NM_015141.4(GPD1L):c.232A>G (p.Met78Val)
|
rs762018216
|
0.00001
|
NM_015141.4(GPD1L):c.298A>G (p.Ile100Val)
|
rs771610382
|
0.00001
|
NM_015141.4(GPD1L):c.318G>C (p.Glu106Asp)
|
rs1700699957
|
0.00001
|
NM_015141.4(GPD1L):c.334C>T (p.Pro112Ser)
|
rs762262112
|
0.00001
|
NM_015141.4(GPD1L):c.344C>T (p.Ala115Val)
|
rs765497074
|
0.00001
|
NM_015141.4(GPD1L):c.376del (p.Glu126fs)
|
rs761698828
|
0.00001
|
NM_015141.4(GPD1L):c.385G>A (p.Glu129Lys)
|
rs751477655
|
0.00001
|
NM_015141.4(GPD1L):c.38C>T (p.Ser13Leu)
|
rs770998550
|
0.00001
|
NM_015141.4(GPD1L):c.415C>T (p.Arg139Cys)
|
rs771369026
|
0.00001
|
NM_015141.4(GPD1L):c.416G>A (p.Arg139His)
|
rs775043567
|
0.00001
|
NM_015141.4(GPD1L):c.47+1G>A
|
rs1221530760
|
0.00001
|
NM_015141.4(GPD1L):c.475G>A (p.Ala159Thr)
|
rs751567318
|
0.00001
|
NM_015141.4(GPD1L):c.482A>G (p.Glu161Gly)
|
rs754861753
|
0.00001
|
NM_015141.4(GPD1L):c.505G>A (p.Gly169Ser)
|
rs1446434571
|
0.00001
|
NM_015141.4(GPD1L):c.526G>A (p.Gly176Ser)
|
rs1443878552
|
0.00001
|
NM_015141.4(GPD1L):c.577G>A (p.Val193Ile)
|
rs1237495167
|
0.00001
|
NM_015141.4(GPD1L):c.652G>A (p.Gly218Ser)
|
rs559530222
|
0.00001
|
NM_015141.4(GPD1L):c.671A>G (p.Asn224Ser)
|
rs1332344958
|
0.00001
|
NM_015141.4(GPD1L):c.685G>A (p.Val229Ile)
|
rs757614405
|
0.00001
|
NM_015141.4(GPD1L):c.692G>A (p.Arg231His)
|
rs869025436
|
0.00001
|
NM_015141.4(GPD1L):c.818G>A (p.Arg273His)
|
rs774028756
|
0.00001
|
NM_015141.4(GPD1L):c.829G>C (p.Glu277Gln)
|
rs775843493
|
0.00001
|
NM_015141.4(GPD1L):c.832G>T (p.Ala278Ser)
|
rs900845107
|
0.00001
|
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr)
|
rs188138719
|
0.00001
|
NM_015141.4(GPD1L):c.890A>G (p.Gln297Arg)
|
rs1358056076
|
0.00001
|
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu)
|
rs1409253059
|
0.00001
|
NM_015141.4(GPD1L):c.944A>G (p.Lys315Arg)
|
rs1559583375
|
0.00001
|
NM_015141.4(GPD1L):c.947G>C (p.Gly316Ala)
|
rs786204216
|
0.00001
|
NM_015141.4(GPD1L):c.959A>G (p.Lys320Arg)
|
rs769123169
|
0.00001
|
NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu)
|
rs774304068
|
0.00001
|
NM_015141.4(GPD1L):c.987G>T (p.Gln329His)
|
rs767661465
|
0.00001
|
NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys)
|
rs201799095
|
0.00001
|
NM_017636.4(TRPM4):c.1690C>T (p.Leu564Phe)
|
rs201994425
|
0.00001
|
NM_017636.4(TRPM4):c.923C>T (p.Ala308Val)
|
rs747192078
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NM_201590.3(CACNB2):c.2T>C (p.Met1Thr)
|
rs1401122407
|
0.00001
|
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=)
|
rs730880058
|
0.00001
|
NM_201596.3(CACNB2):c.1207G>A (p.Val403Ile)
|
rs752546853
|
0.00001
|
NM_201596.3(CACNB2):c.1261G>A (p.Val421Ile)
|
rs745337273
|
0.00001
|
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu)
|
rs779536902
|
0.00001
|
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr)
|
rs1336353571
|
0.00001
|
NM_201596.3(CACNB2):c.1363G>A (p.Asp455Asn)
|
rs780208478
|
0.00001
|
NM_201596.3(CACNB2):c.1388C>T (p.Ala463Val)
|
rs772842557
|
0.00001
|
NM_201596.3(CACNB2):c.1488+6G>A
|
rs966376165
|
0.00001
|
NM_201596.3(CACNB2):c.1589A>C (p.His530Pro)
|
rs1169230473
|
0.00001
|
NM_201596.3(CACNB2):c.1625G>A (p.Arg542His)
|
rs571637787
|
0.00001
|
NM_201596.3(CACNB2):c.1694C>T (p.Ser565Phe)
|
rs1178558183
|
0.00001
|
NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro)
|
rs373826838
|
0.00001
|
NM_201596.3(CACNB2):c.1754A>T (p.His585Leu)
|
rs1412805204
|
0.00001
|
NM_201596.3(CACNB2):c.1768C>A (p.His590Asn)
|
rs776532519
|
0.00001
|
NM_201596.3(CACNB2):c.1786G>A (p.Gly596Arg)
|
rs751230406
|
0.00001
|
NM_201596.3(CACNB2):c.1823G>A (p.Arg608His)
|
rs771011929
|
0.00001
|
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp)
|
rs545095722
|
0.00001
|
NM_201596.3(CACNB2):c.1840C>T (p.Arg614Ter)
|
rs775467558
|
0.00001
|
NM_201596.3(CACNB2):c.1853A>T (p.His618Leu)
|
rs1457911789
|
0.00001
|
NM_201596.3(CACNB2):c.1858G>A (p.Glu620Lys)
|
rs761643494
|
0.00001
|
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys)
|
rs1060499847
|
0.00001
|
NM_201596.3(CACNB2):c.1874G>A (p.Arg625His)
|
rs772911828
|
0.00001
|
NM_201596.3(CACNB2):c.1891A>G (p.Lys631Glu)
|
rs200613235
|
0.00001
|
NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg)
|
rs200260399
|
0.00001
|
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr)
|
rs142735478
|
0.00001
|
NM_201596.3(CACNB2):c.1927T>C (p.Ser643Pro)
|
rs771883602
|
0.00001
|
NM_201596.3(CACNB2):c.287G>T (p.Arg96Leu)
|
rs776194653
|
0.00001
|
NM_201596.3(CACNB2):c.340C>G (p.Pro114Ala)
|
rs768218683
|
0.00001
|
NM_201596.3(CACNB2):c.353C>T (p.Ala118Val)
|
rs371859398
|
0.00001
|
NM_201596.3(CACNB2):c.358C>T (p.Arg120Trp)
|
rs541253552
|
0.00001
|
NM_201596.3(CACNB2):c.403G>T (p.Val135Leu)
|
rs1060503435
|
0.00001
|
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp)
|
rs754596850
|
0.00001
|
NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu)
|
rs747658821
|
0.00001
|
NM_201596.3(CACNB2):c.448G>A (p.Val150Ile)
|
rs1157722971
|
0.00001
|
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)
|
rs773215003
|
0.00001
|
NM_201596.3(CACNB2):c.511G>A (p.Gly171Arg)
|
rs766267727
|
0.00001
|
NM_201596.3(CACNB2):c.631A>G (p.Ile211Val)
|
rs1344965960
|
0.00001
|
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu)
|
rs761542420
|
0.00001
|
NM_201596.3(CACNB2):c.686C>A (p.Ala229Asp)
|
rs145885745
|
0.00001
|
NM_201596.3(CACNB2):c.721G>A (p.Ala241Thr)
|
rs1320589471
|
0.00001
|
NM_201596.3(CACNB2):c.742C>T (p.Pro248Ser)
|
rs982247860
|
0.00001
|
NM_201596.3(CACNB2):c.908C>T (p.Ala303Val)
|
rs1444302148
|
0.00001
|
NM_201596.3(CACNB2):c.977C>T (p.Ser326Leu)
|
rs763712135
|
0.00001
|
NC_000003.11:g.(?_32148194)_(32207412_?)dup
|
|
|
NC_000003.11:g.(?_37493846)_(38991873_?)del
|
|
|
NC_000003.11:g.(?_38495814)_(38991853_?)dup
|
|
|
NC_000003.11:g.(?_38518768)_(38674808_?)dup
|
|
|
NC_000003.11:g.(?_38589553)_(38674850_?)dup
|
|
|
NC_000003.11:g.(?_38591812)_(38674798_?)dup
|
|
|
NC_000003.11:g.(?_38616778)_(38620996_?)del
|
|
|
NC_000003.11:g.(?_38645197)_(38674804_?)dup
|
|
|
NC_000003.11:g.(?_38738840)_(38753956_?)del
|
|
|
NC_000003.11:g.(?_57743379)_(57817277_?)dup
|
|
|
NC_000003.11:g.(?_57743379)_(57913115_?)dup
|
|
|
NC_000003.11:g.(?_57847666)_(57847823_?)dup
|
|
|
NC_000003.11:g.(?_57875748)_(57875847_?)del
|
|
|
NC_000003.11:g.(?_57893591)_(57893753_?)del
|
|
|
NC_000003.12:g.(?_38788946)_(38794020_?)del
|
|
|
NC_000007.13:g.(?_81579698)_(81594991_?)dup
|
|
|
NC_000007.13:g.(?_81579698)_(81603878_?)dup
|
|
|
NC_000007.13:g.(?_81579708)_(81579844_?)dup
|
|
|
NC_000007.13:g.(?_81579708)_(81695860_?)dup
|
|
|
NC_000007.13:g.(?_81964431)_(81978985_?)del
|
|
|
NC_000007.13:g.(?_81964431)_(81978985_?)dup
|
|
|
NC_000007.13:g.(?_81964431)_(82072775_?)dup
|
|
|
NC_000007.13:g.(?_81978864)_(82072775_?)dup
|
|
|
NC_000007.13:g.(?_81978874)_(82072785_?)dup
|
|
|
NC_000007.13:g.(?_82072661)_(82072775_?)dup
|
|
|
NC_000007.14:g.(?_81967159)_(81970747_?)del
|
|
|
NC_000010.10:g.(?_18629856)_(18629926_?)dup
|
|
|
NC_000010.10:g.(?_18795390)_(18828653_?)dup
|
|
|
NC_000010.10:g.(?_18807245)_(18828653_?)dup
|
|
|
NC_000010.11:g.(?_18518326)_(18539734_?)dup
|
|
|
NC_000010.11:g.18539231del
|
rs2053907285
|
|
NC_000011.9:g.(?_123504851)_(123516478_?)dup
|
|
|
NC_000011.9:g.(?_123504851)_(123524509_?)dup
|
|
|
NC_000012.11:g.(?_21918657)_(22017431_?)dup
|
|
|
NC_000012.11:g.(?_21918657)_(22089608_?)del
|
|
|
NC_000012.12:g.21765761T>C
|
|
|
NC_000012.12:g.21765802C>A
|
|
|
NC_000012.12:g.21765806T>C
|
|
|
NC_000012.12:g.21765840C>T
|
|
|
NC_000012.12:g.21766002TTC[1]
|
|
|
NC_000012.12:g.21766013T>C
|
|
|
NC_000012.12:g.21766057A>G
|
|
|
NC_000012.12:g.21766292G>A
|
|
|
NC_000012.12:g.21766528G>A
|
|
|
NC_000012.12:g.21766555A>G
|
|
|
NC_000012.12:g.21773274_21773288del
|
|
|
NC_000012.12:g.21773321C>G
|
|
|
NC_000012.12:g.21773450A>G
|
|
|
NC_000012.12:g.21773586C>A
|
|
|
NC_000015.10:g.(?_72353681)_(73368280_?)dup
|
|
|
NC_000015.9:g.(?_72847592)_(73660611_?)dup
|
|
|
NC_000015.9:g.(?_72978569)_(75190071_?)del
|
|
|
NC_000015.9:g.(?_73614812)_(73660621_?)dup
|
|
|
NC_000015.9:g.(?_73614822)_(73617805_?)del
|
|
|
NC_000015.9:g.(?_73614822)_(73660611_?)del
|
|
|
NC_000015.9:g.(?_73615988)_(73617901_?)del
|
|
|
NC_000015.9:g.(?_73659817)_(73660621_?)del
|
|
|
NC_000019.10:g.(?_35030801)_(35039721_?)del
|
|
|
NC_000019.9:g.(?_35521725)_(36643309_?)del
|
|
|
NC_000023.10:g.(?_108867821)_(108868249_?)del
|
|
|
NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp)
|
rs1564417691
|
|
NM_000256.3(MYBPC3):c.3764C>G (p.Ala1255Gly)
|
rs727504722
|
|
NM_000335.5(SCN5A):c.*1048G>A
|
rs886058447
|
|
NM_000335.5(SCN5A):c.*1201C>A
|
rs1449334566
|
|
NM_000335.5(SCN5A):c.*131G>A
|
rs2060999631
|
|
NM_000335.5(SCN5A):c.*1443C>A
|
rs886058445
|
|
NM_000335.5(SCN5A):c.*1602G>T
|
rs886058444
|
|
NM_000335.5(SCN5A):c.*1691G>T
|
rs886058442
|
|
NM_000335.5(SCN5A):c.*1701G>T
|
rs886058441
|
|
NM_000335.5(SCN5A):c.*1705C>T
|
rs886058440
|
|
NM_000335.5(SCN5A):c.*1744C>G
|
rs886058439
|
|
NM_000335.5(SCN5A):c.*1802G>A
|
rs1477171569
|
|
NM_000335.5(SCN5A):c.*1836A>T
|
rs886058438
|
|
NM_000335.5(SCN5A):c.*1843T>G
|
rs2060971810
|
|
NM_000335.5(SCN5A):c.*1943C>A
|
rs569552176
|
|
NM_000335.5(SCN5A):c.*2149G>A
|
rs114517792
|
|
NM_000335.5(SCN5A):c.*290G>A
|
rs886058457
|
|
NM_000335.5(SCN5A):c.*296G>A
|
rs886058456
|
|
NM_000335.5(SCN5A):c.*486C>T
|
rs886058455
|
|
NM_000335.5(SCN5A):c.*516G>T
|
rs886058454
|
|
NM_000335.5(SCN5A):c.*634C>A
|
rs886058453
|
|
NM_000335.5(SCN5A):c.*6G>T
|
rs776980213
|
|
NM_000335.5(SCN5A):c.*705C>A
|
rs886058452
|
|
NM_000335.5(SCN5A):c.*725C>A
|
rs886058451
|
|
NM_000335.5(SCN5A):c.*73C>A
|
rs886058458
|
|
NM_000335.5(SCN5A):c.*980C>A
|
rs886058449
|
|
NM_000335.5(SCN5A):c.-107G>A
|
rs886058466
|
|
NM_000335.5(SCN5A):c.-27_-15del
|
|
|
NM_000335.5(SCN5A):c.-70C>T
|
rs886058465
|
|
NM_000335.5(SCN5A):c.-80C>A
|
rs2062869269
|
|
NM_000335.5(SCN5A):c.1015T>C (p.Tyr339His)
|
rs2062023205
|
|
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly)
|
rs780735882
|
|
NM_000335.5(SCN5A):c.1047C>G (p.Asp349Glu)
|
|
|
NM_000335.5(SCN5A):c.104G>A (p.Gly35Asp)
|
rs867508345
|
|
NM_000335.5(SCN5A):c.1058C>G (p.Thr353Ser)
|
rs199473096
|
|
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met)
|
rs199473099
|
|
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys)
|
rs199473100
|
|
NM_000335.5(SCN5A):c.1141-4_1141-3delinsTA
|
rs1559774986
|
|
NM_000335.5(SCN5A):c.1368G>C (p.Val456=)
|
rs2061985964
|
|
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala)
|
rs199473114
|
|
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg)
|
rs761628195
|
|
NM_000335.5(SCN5A):c.1399G>T (p.Ala467Ser)
|
rs794728856
|
|
NM_000335.5(SCN5A):c.1433G>T (p.Arg478Met)
|
|
|
NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser)
|
rs1274970281
|
|
NM_000335.5(SCN5A):c.1498G>A (p.Glu500Lys)
|
rs1060501148
|
|
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile)
|
rs199473118
|
|
NM_000335.5(SCN5A):c.1538G>C (p.Arg513Pro)
|
rs397517951
|
|
NM_000335.5(SCN5A):c.1583G>T (p.Ser528Ile)
|
rs1060501134
|
|
NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val)
|
rs779486899
|
|
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly)
|
rs199473576
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
NM_000335.5(SCN5A):c.1768A>C (p.Lys590Gln)
|
rs1060501143
|
|
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=)
|
rs2061958215
|
|
NM_000335.5(SCN5A):c.1850A>T (p.His617Leu)
|
rs974947142
|
|
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile)
|
rs886058463
|
|
NM_000335.5(SCN5A):c.1913G>A (p.Gly638Asp)
|
rs199473578
|
|
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp)
|
rs185638763
|
|
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu)
|
rs373087176
|
|
NM_000335.5(SCN5A):c.2164A>G (p.Thr722Ala)
|
|
|
NM_000335.5(SCN5A):c.2213A>C (p.His738Pro)
|
rs1135401948
|
|
NM_000335.5(SCN5A):c.2257A>C (p.Asn753His)
|
rs2061854296
|
|
NM_000335.5(SCN5A):c.2259C>A (p.Asn753Lys)
|
rs878911306
|
|
NM_000335.5(SCN5A):c.2261T>A (p.Leu754Gln)
|
rs75960619
|
|
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val)
|
rs199473155
|
|
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile)
|
rs2061688177
|
|
NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg)
|
rs1228779956
|
|
NM_000335.5(SCN5A):c.2318C>G (p.Pro773Arg)
|
rs2061687716
|
|
NM_000335.5(SCN5A):c.2399G>T (p.Arg800Leu)
|
rs566251672
|
|
NM_000335.5(SCN5A):c.2423G>A (p.Arg808His)
|
rs199473160
|
|
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu)
|
rs747643709
|
|
NM_000335.5(SCN5A):c.2683C>T (p.Leu895Phe)
|
|
|
NM_000335.5(SCN5A):c.2704A>T (p.Thr902Ser)
|
|
|
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)
|
rs199473175
|
|
NM_000335.5(SCN5A):c.272A>T (p.Lys91Met)
|
|
|
NM_000335.5(SCN5A):c.274-5C>G
|
rs773669619
|
|
NM_000335.5(SCN5A):c.274A>G (p.Thr92Ala)
|
rs2062507927
|
|
NM_000335.5(SCN5A):c.2756T>C (p.Phe919Ser)
|
rs794728868
|
|
NM_000335.5(SCN5A):c.2768T>C (p.Met923Thr)
|
rs2061653830
|
|
NM_000335.5(SCN5A):c.2788-6C>G
|
rs41260344
|
|
NM_000335.5(SCN5A):c.2803C>G (p.Leu935Val)
|
|
|
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe)
|
rs886058462
|
|
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)
|
rs199473054
|
|
NM_000335.5(SCN5A):c.2889G>A (p.Leu963=)
|
rs2061579328
|
|
NM_000335.5(SCN5A):c.2890G>A (p.Ala964Thr)
|
rs1553699796
|
|
NM_000335.5(SCN5A):c.2894G>T (p.Arg965Leu)
|
rs199473181
|
|
NM_000335.5(SCN5A):c.2945G>A (p.Cys982Tyr)
|
rs2061577593
|
|
NM_000335.5(SCN5A):c.2980G>A (p.Ala994Thr)
|
rs1437826730
|
|
NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp)
|
rs1263123803
|
|
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro)
|
rs199473592
|
|
NM_000335.5(SCN5A):c.3091G>A (p.Gly1031Ser)
|
|
|
NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp)
|
rs1430691171
|
|
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
|
|
|
NM_000335.5(SCN5A):c.3259G>T (p.Ala1087Ser)
|
rs369704754
|
|
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)
|
rs752999955
|
|
NM_000335.5(SCN5A):c.3288G>C (p.Gln1096His)
|
|
|
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe)
|
rs7626962
|
|
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=)
|
rs377603706
|
|
NM_000335.5(SCN5A):c.3387+8A>C
|
rs2125867452
|
|
NM_000335.5(SCN5A):c.3388A>C (p.Thr1130Pro)
|
rs371469522
|
|
NM_000335.5(SCN5A):c.3416G>A (p.Ser1139Asn)
|
|
|
NM_000335.5(SCN5A):c.3422C>T (p.Ala1141Val)
|
rs879255356
|
|
NM_000335.5(SCN5A):c.3491A>T (p.Glu1164Val)
|
rs2061491992
|
|
NM_000335.5(SCN5A):c.3503C>G (p.Thr1168Ser)
|
rs779305181
|
|
NM_000335.5(SCN5A):c.3509G>A (p.Gly1170Asp)
|
rs878855289
|
|
NM_000335.5(SCN5A):c.351C>G (p.Phe117Leu)
|
rs2125931653
|
|
NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg)
|
rs1390530399
|
|
NM_000335.5(SCN5A):c.3524G>A (p.Cys1175Tyr)
|
rs2061472260
|
|
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser)
|
rs1169229420
|
|
NM_000335.5(SCN5A):c.3545C>T (p.Thr1182Ile)
|
rs1437242831
|
|
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=)
|
rs1375890695
|
|
NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met)
|
rs1575748933
|
|
NM_000335.5(SCN5A):c.3626T>C (p.Phe1209Ser)
|
rs794728875
|
|
NM_000335.5(SCN5A):c.3661C>T (p.Leu1221=)
|
rs1379386304
|
|
NM_000335.5(SCN5A):c.3694A>G (p.Lys1232Glu)
|
|
|
NM_000335.5(SCN5A):c.3726C>G (p.Asp1242Glu)
|
rs1559738468
|
|
NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu)
|
rs756102773
|
|
NM_000335.5(SCN5A):c.3788A>G (p.Lys1263Arg)
|
rs1183090563
|
|
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser)
|
rs761274563
|
|
NM_000335.5(SCN5A):c.3814T>G (p.Trp1272Gly)
|
rs1575735372
|
|
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)
|
|
|
NM_000335.5(SCN5A):c.3913C>A (p.Arg1305Ser)
|
rs1403211358
|
|
NM_000335.5(SCN5A):c.3913C>G (p.Arg1305Gly)
|
rs1403211358
|
|
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys)
|
rs1403211358
|
|
NM_000335.5(SCN5A):c.392+3A>G
|
rs2062503289
|
|
NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His)
|
rs537423012
|
|
NM_000335.5(SCN5A):c.3925C>T (p.Pro1309Ser)
|
rs2061269221
|
|
NM_000335.5(SCN5A):c.3967G>A (p.Val1323Ile)
|
rs1553695437
|
|
NM_000335.5(SCN5A):c.4001T>G (p.Met1334Arg)
|
rs1343676000
|
|
NM_000335.5(SCN5A):c.4030_4041del (p.Trp1344_Phe1347del)
|
|
|
NM_000335.5(SCN5A):c.4073A>C (p.Lys1358Thr)
|
rs758959053
|
|
NM_000335.5(SCN5A):c.4073A>T (p.Lys1358Met)
|
rs758959053
|
|
NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly)
|
rs775485359
|
|
NM_000335.5(SCN5A):c.4136A>G (p.Asn1379Ser)
|
|
|
NM_000335.5(SCN5A):c.4210G>A (p.Val1404Met)
|
rs199473239
|
|
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn)
|
rs746291609
|
|
NM_000335.5(SCN5A):c.427A>G (p.Thr143Ala)
|
rs746026950
|
|
NM_000335.5(SCN5A):c.4285G>A (p.Asp1429Asn)
|
|
|
NM_000335.5(SCN5A):c.4289C>G (p.Ser1430Cys)
|
rs1226701514
|
|
NM_000335.5(SCN5A):c.4293G>T (p.Arg1431Ser)
|
rs199473246
|
|
NM_000335.5(SCN5A):c.4296+4G>T
|
rs2061175433
|
|
NM_000335.5(SCN5A):c.4326C>A (p.Asn1442Lys)
|
rs1575718424
|
|
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu)
|
rs876657996
|
|
NM_000335.5(SCN5A):c.4434+6T>C
|
rs2125835168
|
|
NM_000335.5(SCN5A):c.4439G>C (p.Gly1480Ala)
|
|
|
NM_000335.5(SCN5A):c.44G>T (p.Arg15Met)
|
rs373410109
|
|
NM_000335.5(SCN5A):c.4553G>A (p.Gly1518Asp)
|
rs1322825102
|
|
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr)
|
rs770780069
|
|
NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=)
|
rs886058461
|
|
NM_000335.5(SCN5A):c.4709T>G (p.Phe1570Cys)
|
rs199473274
|
|
NM_000335.5(SCN5A):c.4712C>G (p.Thr1571Arg)
|
rs2125830677
|
|
NM_000335.5(SCN5A):c.4721G>A (p.Cys1574Tyr)
|
rs1553693632
|
|
NM_000335.5(SCN5A):c.4735G>T (p.Ala1579Ser)
|
rs2125830627
|
|
NM_000335.5(SCN5A):c.4771A>T (p.Asn1591Tyr)
|
rs1559725364
|
|
NM_000335.5(SCN5A):c.4810+4G>A
|
rs1011460663
|
|
NM_000335.5(SCN5A):c.4810+5G>A
|
rs2125830430
|
|
NM_000335.5(SCN5A):c.4811-3C>T
|
|
|
NM_000335.5(SCN5A):c.4844T>C (p.Phe1615Ser)
|
|
|
NM_000335.5(SCN5A):c.484T>G (p.Tyr162Asp)
|
|
|
NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu)
|
rs794728889
|
|
NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu)
|
rs2125826544
|
|
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser)
|
rs199473298
|
|
NM_000335.5(SCN5A):c.5138A>G (p.Asp1713Gly)
|
rs199473628
|
|
NM_000335.5(SCN5A):c.5151C>G (p.Ser1717Arg)
|
rs778490062
|
|
NM_000335.5(SCN5A):c.5269A>G (p.Ile1757Val)
|
rs1325549884
|
|
NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe)
|
rs199473309
|
|
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val)
|
rs774917987
|
|
NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu)
|
rs1367727373
|
|
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)
|
rs2061022221
|
|
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
|
|
|
NM_000335.5(SCN5A):c.5469_5975del (p.Leu1824_Ser1992del)
|
|
|
NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr)
|
rs2061021014
|
|
NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His)
|
rs2125825520
|
|
NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu)
|
rs368967393
|
|
NM_000335.5(SCN5A):c.5536C>G (p.Arg1846Gly)
|
rs768246863
|
|
NM_000335.5(SCN5A):c.5540T>G (p.Ile1847Ser)
|
|
|
NM_000335.5(SCN5A):c.5576G>A (p.Arg1859Lys)
|
rs1559720220
|
|
NM_000335.5(SCN5A):c.5587G>A (p.Glu1863Lys)
|
rs1060501129
|
|
NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val)
|
rs2061017114
|
|
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp)
|
rs199473068
|
|
NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln)
|
rs199473325
|
|
NM_000335.5(SCN5A):c.5708C>G (p.Ser1903Trp)
|
rs150264233
|
|
NM_000335.5(SCN5A):c.5795G>T (p.Gly1932Val)
|
rs758704113
|
|
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn)
|
rs730880209
|
|
NM_000335.5(SCN5A):c.5801_5802dup (p.Leu1935fs)
|
rs2125824738
|
|
NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp)
|
rs2061011355
|
|
NM_000335.5(SCN5A):c.5822_5823del (p.Pro1941fs)
|
rs1553692416
|
|
NM_000335.5(SCN5A):c.5827_5830del (p.Glu1944fs)
|
rs2061010663
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn)
|
rs781270220
|
|
NM_000335.5(SCN5A):c.5896del (p.Ser1966fs)
|
|
|
NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup)
|
rs1332941398
|
|
NM_000335.5(SCN5A):c.590A>G (p.Asp197Gly)
|
rs1559370502
|
|
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile)
|
rs774432823
|
|
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile)
|
rs41311117
|
|
NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg)
|
rs199473338
|
|
NM_000335.5(SCN5A):c.6014del (p.Pro2005fs)
|
|
|
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu)
|
rs886058459
|
|
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val)
|
rs199473559
|
|
NM_000335.5(SCN5A):c.656G>C (p.Arg219Pro)
|
rs878855296
|
|
NM_000335.5(SCN5A):c.760A>T (p.Met254Leu)
|
rs2125910458
|
|
NM_000335.5(SCN5A):c.802G>T (p.Gly268Cys)
|
rs750990576
|
|
NM_000335.5(SCN5A):c.832C>T (p.His278Tyr)
|
rs199473562
|
|
NM_000335.5(SCN5A):c.836A>G (p.Lys279Arg)
|
rs2125910328
|
|
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)
|
rs199473082
|
|
NM_000335.5(SCN5A):c.878C>G (p.Ser293Cys)
|
|
|
NM_000335.5(SCN5A):c.883G>A (p.Glu295Lys)
|
rs762283891
|
|
NM_000335.5(SCN5A):c.935-3C>G
|
rs766127222
|
|
NM_000335.5(SCN5A):c.95A>G (p.Gln32Arg)
|
rs1553607617
|
|
NM_000335.5(SCN5A):c.998+5G>T
|
|
|
NM_000719.7(CACNA1C):c.*1652GAATT[1]
|
rs886049224
|
|
NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys)
|
|
|
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala)
|
rs776242172
|
|
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His)
|
rs886049150
|
|
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)
|
rs786205782
|
|
NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn)
|
rs2083420296
|
|
NM_000719.7(CACNA1C):c.2181G>T (p.Met727Ile)
|
|
|
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del)
|
rs771014370
|
|
NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn)
|
|
|
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val)
|
rs1199713333
|
|
NM_000719.7(CACNA1C):c.2854-11C>G
|
rs2153406175
|
|
NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met)
|
rs2075018681
|
|
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn)
|
rs1165009288
|
|
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)
|
rs199473391
|
|
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr)
|
rs1251955384
|
|
NM_000719.7(CACNA1C):c.3946-44C>T
|
rs760982440
|
|
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser)
|
rs2096050688
|
|
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)
|
rs756364065
|
|
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn)
|
rs786205763
|
|
NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln)
|
rs1313283709
|
|
NM_000719.7(CACNA1C):c.4828+1G>A
|
rs2153757423
|
|
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)
|
rs778011390
|
|
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)
|
rs786205773
|
|
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)
|
rs201492706
|
|
NM_000719.7(CACNA1C):c.5284G>A (p.Gly1762Ser)
|
|
|
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr)
|
rs1309430190
|
|
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)
|
rs757172314
|
|
NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser)
|
rs2097429400
|
|
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)
|
rs1603462676
|
|
NM_000719.7(CACNA1C):c.5784+4G>T
|
rs2097478141
|
|
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)
|
rs762896810
|
|
NM_000719.7(CACNA1C):c.5953AGC[1] (p.Ser1986del)
|
|
|
NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg)
|
rs368817423
|
|
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del)
|
rs886049208
|
|
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)
|
rs771708175
|
|
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln)
|
rs1279028766
|
|
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His)
|
rs376872233
|
|
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)
|
rs786205744
|
|
NM_000722.4(CACNA2D1):c.1009T>A (p.Phe337Ile)
|
|
|
NM_000722.4(CACNA2D1):c.1017T>G (p.Phe339Leu)
|
|
|
NM_000722.4(CACNA2D1):c.1019C>T (p.Ala340Val)
|
|
|
NM_000722.4(CACNA2D1):c.10G>A (p.Gly4Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1122C>G (p.Asn374Lys)
|
|
|
NM_000722.4(CACNA2D1):c.1148G>A (p.Arg383His)
|
rs1562870772
|
|
NM_000722.4(CACNA2D1):c.1156A>G (p.Thr386Ala)
|
rs2130949881
|
|
NM_000722.4(CACNA2D1):c.116A>G (p.Lys39Arg)
|
|
|
NM_000722.4(CACNA2D1):c.1180T>C (p.Tyr394His)
|
|
|
NM_000722.4(CACNA2D1):c.1222+6A>C
|
|
|
NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys)
|
rs886039110
|
|
NM_000722.4(CACNA2D1):c.1266T>G (p.Asn422Lys)
|
|
|
NM_000722.4(CACNA2D1):c.1330G>A (p.Val444Ile)
|
rs1799865602
|
|
NM_000722.4(CACNA2D1):c.1362+2_1362+5dup
|
|
|
NM_000722.4(CACNA2D1):c.1434_1439del (p.Asn478_Leu479del)
|
rs1554349582
|
|
NM_000722.4(CACNA2D1):c.1474G>C (p.Val492Leu)
|
|
|
NM_000722.4(CACNA2D1):c.1507C>T (p.Arg503Cys)
|
|
|
NM_000722.4(CACNA2D1):c.1508G>C (p.Arg503Pro)
|
|
|
NM_000722.4(CACNA2D1):c.1516-4_1516-3delinsAA
|
|
|
NM_000722.4(CACNA2D1):c.1543A>G (p.Ile515Val)
|
|
|
NM_000722.4(CACNA2D1):c.1576A>G (p.Asn526Asp)
|
|
|
NM_000722.4(CACNA2D1):c.1609C>G (p.Pro537Ala)
|
rs1554345090
|
|
NM_000722.4(CACNA2D1):c.1642G>A (p.Glu548Lys)
|
|
|
NM_000722.4(CACNA2D1):c.1642G>C (p.Glu548Gln)
|
|
|
NM_000722.4(CACNA2D1):c.1667G>A (p.Arg556Gln)
|
rs1584331322
|
|
NM_000722.4(CACNA2D1):c.1685G>C (p.Gly562Ala)
|
|
|
NM_000722.4(CACNA2D1):c.1735A>C (p.Arg579=)
|
|
|
NM_000722.4(CACNA2D1):c.173T>C (p.Val58Ala)
|
|
|
NM_000722.4(CACNA2D1):c.1745A>G (p.Asp582Gly)
|
|
|
NM_000722.4(CACNA2D1):c.1774C>T (p.Pro592Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1796+4A>G
|
|
|
NM_000722.4(CACNA2D1):c.1797-14T>G
|
|
|
NM_000722.4(CACNA2D1):c.1832A>G (p.Tyr611Cys)
|
|
|
NM_000722.4(CACNA2D1):c.1878A>G (p.Lys626=)
|
|
|
NM_000722.4(CACNA2D1):c.1885A>G (p.Lys629Glu)
|
|
|
NM_000722.4(CACNA2D1):c.1895A>G (p.Asp632Gly)
|
|
|
NM_000722.4(CACNA2D1):c.1951C>G (p.Pro651Ala)
|
|
|
NM_000722.4(CACNA2D1):c.1967A>G (p.Asn656Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1988A>G (p.Asn663Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1991A>G (p.Asn664Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2017G>A (p.Glu673Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2048C>T (p.Pro683Leu)
|
|
|
NM_000722.4(CACNA2D1):c.206C>T (p.Thr69Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met)
|
rs1554333986
|
|
NM_000722.4(CACNA2D1):c.2138A>C (p.Asn713Thr)
|
|
|
NM_000722.4(CACNA2D1):c.2142-3C>T
|
|
|
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met)
|
rs745501384
|
|
NM_000722.4(CACNA2D1):c.2159G>A (p.Arg720Gln)
|
|
|
NM_000722.4(CACNA2D1):c.2189G>A (p.Arg730Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2200A>G (p.Lys734Glu)
|
rs1554333593
|
|
NM_000722.4(CACNA2D1):c.2207C>G (p.Ala736Gly)
|
|
|
NM_000722.4(CACNA2D1):c.226C>T (p.Arg76Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2275G>A (p.Asp759Asn)
|
|
|
NM_000722.4(CACNA2D1):c.227G>T (p.Arg76Leu)
|
rs200298945
|
|
NM_000722.4(CACNA2D1):c.2291C>G (p.Thr764Ser)
|
rs2130421265
|
|
NM_000722.4(CACNA2D1):c.2300A>G (p.Tyr767Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2309-3T>A
|
|
|
NM_000722.4(CACNA2D1):c.2317C>T (p.Pro773Ser)
|
rs1268971839
|
|
NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu)
|
rs772938422
|
|
NM_000722.4(CACNA2D1):c.2320G>A (p.Gly774Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2332T>G (p.Ser778Ala)
|
|
|
NM_000722.4(CACNA2D1):c.2336G>A (p.Gly779Asp)
|
|
|
NM_000722.4(CACNA2D1):c.2356G>A (p.Val786Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2398G>A (p.Val800Ile)
|
rs1365919214
|
|
NM_000722.4(CACNA2D1):c.2450C>T (p.Ser817Leu)
|
|
|
NM_000722.4(CACNA2D1):c.2458G>A (p.Asp820Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2486G>A (p.Cys829Tyr)
|
|
|
NM_000722.4(CACNA2D1):c.2513G>T (p.Cys838Phe)
|
rs1584210392
|
|
NM_000722.4(CACNA2D1):c.251G>A (p.Arg84Lys)
|
|
|
NM_000722.4(CACNA2D1):c.253G>A (p.Asp85Asn)
|
rs769700955
|
|
NM_000722.4(CACNA2D1):c.2560G>A (p.Asp854Asn)
|
rs2130335993
|
|
NM_000722.4(CACNA2D1):c.2570A>G (p.Asn857Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2574+3A>C
|
|
|
NM_000722.4(CACNA2D1):c.2574+3A>G
|
|
|
NM_000722.4(CACNA2D1):c.2629A>C (p.Ile877Leu)
|
|
|
NM_000722.4(CACNA2D1):c.2668T>G (p.Ser890Ala)
|
|
|
NM_000722.4(CACNA2D1):c.2677G>C (p.Glu893Gln)
|
|
|
NM_000722.4(CACNA2D1):c.2689G>A (p.Ala897Thr)
|
|
|
NM_000722.4(CACNA2D1):c.2710C>T (p.His904Tyr)
|
|
|
NM_000722.4(CACNA2D1):c.2713C>T (p.Arg905Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=)
|
rs758369222
|
|
NM_000722.4(CACNA2D1):c.2727+4A>G
|
|
|
NM_000722.4(CACNA2D1):c.2728C>T (p.Pro910Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2760G>C (p.Trp920Cys)
|
rs1554330432
|
|
NM_000722.4(CACNA2D1):c.2777C>T (p.Ala926Val)
|
|
|
NM_000722.4(CACNA2D1):c.2781-16T>A
|
|
|
NM_000722.4(CACNA2D1):c.2800C>T (p.Leu934Phe)
|
|
|
NM_000722.4(CACNA2D1):c.2821C>T (p.Arg941Ter)
|
|
|
NM_000722.4(CACNA2D1):c.2835A>T (p.Ala945=)
|
rs748988843
|
|
NM_000722.4(CACNA2D1):c.2881A>G (p.Ser961Gly)
|
rs750969626
|
|
NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2893G>A (p.Glu965Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2914G>T (p.Asp972Tyr)
|
|
|
NM_000722.4(CACNA2D1):c.2918A>T (p.Asn973Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly)
|
|
|
NM_000722.4(CACNA2D1):c.2939G>C (p.Gly980Ala)
|
|
|
NM_000722.4(CACNA2D1):c.2944T>A (p.Leu982Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2966+1G>A
|
|
|
NM_000722.4(CACNA2D1):c.2967-3C>A
|
|
|
NM_000722.4(CACNA2D1):c.2968A>G (p.Ile990Val)
|
|
|
NM_000722.4(CACNA2D1):c.2969T>A (p.Ile990Asn)
|
rs2130187077
|
|
NM_000722.4(CACNA2D1):c.296G>A (p.Arg99His)
|
|
|
NM_000722.4(CACNA2D1):c.3016G>A (p.Val1006Ile)
|
|
|
NM_000722.4(CACNA2D1):c.3027del (p.Thr1011fs)
|
rs1554327285
|
|
NM_000722.4(CACNA2D1):c.3050G>A (p.Arg1017Gln)
|
|
|
NM_000722.4(CACNA2D1):c.3065C>A (p.Ala1022Glu)
|
|
|
NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val)
|
|
|
NM_000722.4(CACNA2D1):c.3077-37_3077-12dup
|
|
|
NM_000722.4(CACNA2D1):c.3077-4_3077-3del
|
rs773360358
|
|
NM_000722.4(CACNA2D1):c.310G>A (p.Ala104Thr)
|
|
|
NM_000722.4(CACNA2D1):c.311C>T (p.Ala104Val)
|
|
|
NM_000722.4(CACNA2D1):c.3130C>T (p.Pro1044Ser)
|
|
|
NM_000722.4(CACNA2D1):c.3158T>C (p.Leu1053Ser)
|
|
|
NM_000722.4(CACNA2D1):c.3160-1G>A
|
|
|
NM_000722.4(CACNA2D1):c.3167A>T (p.Tyr1056Phe)
|
|
|
NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser)
|
rs2129932628
|
|
NM_000722.4(CACNA2D1):c.3173_3176dup (p.Cys1059Ter)
|
|
|
NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His)
|
rs2129931750
|
|
NM_000722.4(CACNA2D1):c.3212A>C (p.Tyr1071Ser)
|
rs956966352
|
|
NM_000722.4(CACNA2D1):c.3242G>T (p.Trp1081Leu)
|
|
|
NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp)
|
|
|
NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His)
|
rs143631985
|
|
NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu)
|
rs143631985
|
|
NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg)
|
|
|
NM_000722.4(CACNA2D1):c.359A>G (p.Asn120Ser)
|
|
|
NM_000722.4(CACNA2D1):c.364G>A (p.Val122Ile)
|
|
|
NM_000722.4(CACNA2D1):c.392T>A (p.Leu131His)
|
|
|
NM_000722.4(CACNA2D1):c.421G>C (p.Gly141Arg)
|
|
|
NM_000722.4(CACNA2D1):c.434T>C (p.Ile145Thr)
|
|
|
NM_000722.4(CACNA2D1):c.437A>T (p.Lys146Ile)
|
|
|
NM_000722.4(CACNA2D1):c.439C>T (p.Pro147Ser)
|
rs869025369
|
|
NM_000722.4(CACNA2D1):c.43C>G (p.Gln15Glu)
|
rs774697812
|
|
NM_000722.4(CACNA2D1):c.454G>A (p.Asp152Asn)
|
|
|
NM_000722.4(CACNA2D1):c.455A>G (p.Asp152Gly)
|
|
|
NM_000722.4(CACNA2D1):c.457G>A (p.Ala153Thr)
|
rs1163800062
|
|
NM_000722.4(CACNA2D1):c.460A>G (p.Asn154Asp)
|
|
|
NM_000722.4(CACNA2D1):c.47C>T (p.Ser16Phe)
|
|
|
NM_000722.4(CACNA2D1):c.482A>G (p.Tyr161Cys)
|
rs752496490
|
|
NM_000722.4(CACNA2D1):c.482A>T (p.Tyr161Phe)
|
|
|
NM_000722.4(CACNA2D1):c.508A>G (p.Thr170Ala)
|
|
|
NM_000722.4(CACNA2D1):c.527-3T>C
|
rs1554398187
|
|
NM_000722.4(CACNA2D1):c.529A>C (p.Thr177Pro)
|
|
|
NM_000722.4(CACNA2D1):c.551A>G (p.Asn184Ser)
|
rs1434289035
|
|
NM_000722.4(CACNA2D1):c.572_574del (p.Glu191del)
|
|
|
NM_000722.4(CACNA2D1):c.585G>C (p.Lys195Asn)
|
rs1035408693
|
|
NM_000722.4(CACNA2D1):c.58G>C (p.Gly20Arg)
|
|
|
NM_000722.4(CACNA2D1):c.62C>T (p.Pro21Leu)
|
|
|
NM_000722.4(CACNA2D1):c.655C>T (p.Pro219Ser)
|
|
|
NM_000722.4(CACNA2D1):c.659-3T>C
|
rs770300395
|
|
NM_000722.4(CACNA2D1):c.677A>G (p.Asn226Ser)
|
|
|
NM_000722.4(CACNA2D1):c.702C>A (p.Asp234Glu)
|
|
|
NM_000722.4(CACNA2D1):c.703C>A (p.Leu235Ile)
|
|
|
NM_000722.4(CACNA2D1):c.729-10T>C
|
|
|
NM_000722.4(CACNA2D1):c.77C>A (p.Pro26Gln)
|
rs1379575076
|
|
NM_000722.4(CACNA2D1):c.836T>C (p.Met279Thr)
|
|
|
NM_000722.4(CACNA2D1):c.845C>A (p.Thr282Asn)
|
|
|
NM_000722.4(CACNA2D1):c.865G>A (p.Val289Met)
|
|
|
NM_000722.4(CACNA2D1):c.901G>C (p.Val301Leu)
|
rs2131202672
|
|
NM_000722.4(CACNA2D1):c.95+1G>A
|
rs1554560384
|
|
NM_000722.4(CACNA2D1):c.95+5G>A
|
|
|
NM_000722.4(CACNA2D1):c.962C>T (p.Ala321Val)
|
|
|
NM_000722.4(CACNA2D1):c.969T>A (p.Asn323Lys)
|
rs1060503151
|
|
NM_000891.3(KCNJ2):c.83A>G (p.Asn28Ser)
|
rs2074384666
|
|
NM_001035.3(RYR2):c.4235A>G (p.Asp1412Gly)
|
rs1553515461
|
|
NM_001037.5(SCN1B):c.*464C>G
|
rs72550264
|
|
NM_001037.5(SCN1B):c.*486C>T
|
rs2064280155
|
|
NM_001037.5(SCN1B):c.*553C>T
|
rs2064280962
|
|
NM_001037.5(SCN1B):c.-72G>A
|
rs1568347863
|
|
NM_001037.5(SCN1B):c.109A>C (p.Lys37Gln)
|
|
|
NM_001037.5(SCN1B):c.122T>G (p.Ile41Ser)
|
rs2064221304
|
|
NM_001037.5(SCN1B):c.125C>A (p.Ser42Tyr)
|
|
|
NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys)
|
rs371646049
|
|
NM_001037.5(SCN1B):c.137G>A (p.Arg46His)
|
rs1024702691
|
|
NM_001037.5(SCN1B):c.139A>G (p.Ser47Gly)
|
|
|
NM_001037.5(SCN1B):c.142G>A (p.Glu48Lys)
|
|
|
NM_001037.5(SCN1B):c.142G>C (p.Glu48Gln)
|
|
|
NM_001037.5(SCN1B):c.145A>T (p.Thr49Ser)
|
|
|
NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)
|
rs1568348711
|
|
NM_001037.5(SCN1B):c.167A>G (p.Glu56Gly)
|
|
|
NM_001037.5(SCN1B):c.16G>C (p.Ala6Pro)
|
rs1308862852
|
|
NM_001037.5(SCN1B):c.172A>C (p.Thr58Pro)
|
|
|
NM_001037.5(SCN1B):c.173C>G (p.Thr58Ser)
|
|
|
NM_001037.5(SCN1B):c.173C>T (p.Thr58Ile)
|
rs2064221831
|
|
NM_001037.5(SCN1B):c.179G>A (p.Arg60His)
|
rs2064221894
|
|
NM_001037.5(SCN1B):c.179G>T (p.Arg60Leu)
|
|
|
NM_001037.5(SCN1B):c.182A>G (p.Gln61Arg)
|
rs2151746034
|
|
NM_001037.5(SCN1B):c.190A>G (p.Thr64Ala)
|
rs2151746044
|
|
NM_001037.5(SCN1B):c.197A>G (p.Glu66Gly)
|
|
|
NM_001037.5(SCN1B):c.198G>T (p.Glu66Asp)
|
|
|
NM_001037.5(SCN1B):c.19T>A (p.Leu7Ile)
|
|
|
NM_001037.5(SCN1B):c.202G>C (p.Val68Leu)
|
|
|
NM_001037.5(SCN1B):c.209T>C (p.Ile70Thr)
|
rs2064227259
|
|
NM_001037.5(SCN1B):c.212T>C (p.Leu71Pro)
|
rs2064227283
|
|
NM_001037.5(SCN1B):c.215G>T (p.Arg72Leu)
|
rs770751961
|
|
NM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)
|
|
|
NM_001037.5(SCN1B):c.224A>G (p.Asn75Ser)
|
|
|
NM_001037.5(SCN1B):c.22G>C (p.Val8Leu)
|
rs786205832
|
|
NM_001037.5(SCN1B):c.239T>C (p.Leu80Pro)
|
|
|
NM_001037.5(SCN1B):c.249T>G (p.Asp83Glu)
|
|
|
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)
|
rs1555720710
|
|
NM_001037.5(SCN1B):c.256T>C (p.Phe86Leu)
|
rs1600364421
|
|
NM_001037.5(SCN1B):c.274T>C (p.Trp92Arg)
|
rs2151746407
|
|
NM_001037.5(SCN1B):c.275G>C (p.Trp92Ser)
|
|
|
NM_001037.5(SCN1B):c.281G>T (p.Gly94Val)
|
rs2151746413
|
|
NM_001037.5(SCN1B):c.284G>A (p.Ser95Asn)
|
rs1173359846
|
|
NM_001037.5(SCN1B):c.284G>C (p.Ser95Thr)
|
|
|
NM_001037.5(SCN1B):c.289G>A (p.Gly97Ser)
|
|
|
NM_001037.5(SCN1B):c.290G>A (p.Gly97Asp)
|
rs2064228310
|
|
NM_001037.5(SCN1B):c.290G>C (p.Gly97Ala)
|
rs2064228310
|
|
NM_001037.5(SCN1B):c.29G>A (p.Gly10Asp)
|
rs1555720384
|
|
NM_001037.5(SCN1B):c.310C>A (p.Leu104Met)
|
rs1555720733
|
|
NM_001037.5(SCN1B):c.316A>G (p.Ile106Val)
|
|
|
NM_001037.5(SCN1B):c.31G>A (p.Ala11Thr)
|
rs2064208679
|
|
NM_001037.5(SCN1B):c.329A>G (p.Asn110Ser)
|
|
|
NM_001037.5(SCN1B):c.32C>T (p.Ala11Val)
|
|
|
NM_001037.5(SCN1B):c.331G>A (p.Val111Ile)
|
rs2064228638
|
|
NM_001037.5(SCN1B):c.335C>T (p.Thr112Ile)
|
|
|
NM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys)
|
rs1246786495
|
|
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
|
|
|
NM_001037.5(SCN1B):c.349G>A (p.Gly117Ser)
|
|
|
NM_001037.5(SCN1B):c.34G>A (p.Ala12Thr)
|
|
|
NM_001037.5(SCN1B):c.352G>A (p.Asp118Asn)
|
rs761925369
|
|
NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr)
|
rs761925369
|
|
NM_001037.5(SCN1B):c.367G>T (p.Val123Phe)
|
rs754215948
|
|
NM_001037.5(SCN1B):c.371A>G (p.Tyr124Cys)
|
|
|
NM_001037.5(SCN1B):c.374G>T (p.Arg125Leu)
|
rs759839781
|
|
NM_001037.5(SCN1B):c.389A>C (p.Glu130Ala)
|
|
|
NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)
|
|
|
NM_001037.5(SCN1B):c.39G>C (p.Leu13=)
|
|
|
NM_001037.5(SCN1B):c.40+6T>G
|
|
|
NM_001037.5(SCN1B):c.401ACA[1] (p.Asn135del)
|
rs2064229476
|
|
NM_001037.5(SCN1B):c.404A>C (p.Asn135Thr)
|
|
|
NM_001037.5(SCN1B):c.412GTC[1] (p.Val139del)
|
rs2064229655
|
|
NM_001037.5(SCN1B):c.415G>T (p.Val139Phe)
|
|
|
NM_001037.5(SCN1B):c.419AGA[1] (p.Lys141del)
|
|
|
NM_001037.5(SCN1B):c.419AGA[3] (p.Lys141_Ile142insLys)
|
|
|
NM_001037.5(SCN1B):c.41T>C (p.Val14Ala)
|
rs2151745962
|
|
NM_001037.5(SCN1B):c.420G>C (p.Lys140Asn)
|
rs2151746501
|
|
NM_001037.5(SCN1B):c.424A>G (p.Ile142Val)
|
|
|
NM_001037.5(SCN1B):c.430A>G (p.Ile144Val)
|
|
|
NM_001037.5(SCN1B):c.431T>C (p.Ile144Thr)
|
|
|
NM_001037.5(SCN1B):c.448+105G>C
|
|
|
NM_001037.5(SCN1B):c.448+106C>A
|
rs2151746573
|
|
NM_001037.5(SCN1B):c.448+10G>C
|
rs959703607
|
|
NM_001037.5(SCN1B):c.448+111C>A
|
|
|
NM_001037.5(SCN1B):c.448+111C>G
|
|
|
NM_001037.5(SCN1B):c.448+115C>T
|
|
|
NM_001037.5(SCN1B):c.448+117C>T
|
rs2151746583
|
|
NM_001037.5(SCN1B):c.448+119_448+120delinsAA
|
|
|
NM_001037.5(SCN1B):c.448+120C>A
|
|
|
NM_001037.5(SCN1B):c.448+122G>C
|
|
|
NM_001037.5(SCN1B):c.448+129G>A
|
|
|
NM_001037.5(SCN1B):c.448+130A>G
|
|
|
NM_001037.5(SCN1B):c.448+135G>A
|
|
|
NM_001037.5(SCN1B):c.448+135G>T
|
|
|
NM_001037.5(SCN1B):c.448+135del
|
rs761070541
|
|
NM_001037.5(SCN1B):c.448+135dup
|
|
|
NM_001037.5(SCN1B):c.448+136A>C
|
|
|
NM_001037.5(SCN1B):c.448+154G>A
|
|
|
NM_001037.5(SCN1B):c.448+169G>A
|
|
|
NM_001037.5(SCN1B):c.448+171C>A
|
|
|
NM_001037.5(SCN1B):c.448+174_448+175del
|
rs2151746627
|
|
NM_001037.5(SCN1B):c.448+184C>A
|
|
|
NM_001037.5(SCN1B):c.448+187G>A
|
rs2064231986
|
|
NM_001037.5(SCN1B):c.448+18T>C
|
rs2064230229
|
|
NM_001037.5(SCN1B):c.448+198G>A
|
rs2151746635
|
|
NM_001037.5(SCN1B):c.448+1G>A
|
|
|
NM_001037.5(SCN1B):c.448+201C>T
|
rs2151746638
|
|
NM_001037.5(SCN1B):c.448+208T>C
|
|
|
NM_001037.5(SCN1B):c.448+210C>A
|
|
|
NM_001037.5(SCN1B):c.448+210C>T
|
|
|
NM_001037.5(SCN1B):c.448+213G>C
|
rs2064232193
|
|
NM_001037.5(SCN1B):c.448+217C>T
|
rs1085307597
|
|
NM_001037.5(SCN1B):c.448+219C>A
|
|
|
NM_001037.5(SCN1B):c.448+219C>T
|
|
|
NM_001037.5(SCN1B):c.448+219dup
|
|
|
NM_001037.5(SCN1B):c.448+231G>A
|
rs1412614368
|
|
NM_001037.5(SCN1B):c.448+236C>G
|
rs779470587
|
|
NM_001037.5(SCN1B):c.448+238G>C
|
rs2064232510
|
|
NM_001037.5(SCN1B):c.448+256T>A
|
|
|
NM_001037.5(SCN1B):c.448+25T>C
|
|
|
NM_001037.5(SCN1B):c.448+262G>T
|
|
|
NM_001037.5(SCN1B):c.448+264A>G
|
|
|
NM_001037.5(SCN1B):c.448+266G>A
|
rs2151746678
|
|
NM_001037.5(SCN1B):c.448+277G>T
|
rs2064232777
|
|
NM_001037.5(SCN1B):c.448+280G>A
|
|
|
NM_001037.5(SCN1B):c.448+287_448+290del
|
rs762523720
|
|
NM_001037.5(SCN1B):c.448+288T>C
|
|
|
NM_001037.5(SCN1B):c.448+295_448+296delinsAA
|
rs2064232945
|
|
NM_001037.5(SCN1B):c.448+303del
|
|
|
NM_001037.5(SCN1B):c.448+316T>C
|
rs2151746709
|
|
NM_001037.5(SCN1B):c.448+321G>C
|
rs72558028
|
|
NM_001037.5(SCN1B):c.448+330A>G
|
rs2151746720
|
|
NM_001037.5(SCN1B):c.448+336T>C
|
|
|
NM_001037.5(SCN1B):c.448+337G>T
|
rs369032304
|
|
NM_001037.5(SCN1B):c.448+342T>A
|
|
|
NM_001037.5(SCN1B):c.448+346G>T
|
|
|
NM_001037.5(SCN1B):c.448+348G>T
|
rs2064233650
|
|
NM_001037.5(SCN1B):c.448+357T>C
|
|
|
NM_001037.5(SCN1B):c.448+36C>T
|
|
|
NM_001037.5(SCN1B):c.448+39C>T
|
rs373443526
|
|
NM_001037.5(SCN1B):c.448+4_448+12del
|
rs1322172446
|
|
NM_001037.5(SCN1B):c.448+50A>T
|
|
|
NM_001037.5(SCN1B):c.448+51T>C
|
|
|
NM_001037.5(SCN1B):c.448+55G>C
|
|
|
NM_001037.5(SCN1B):c.448+61G>T
|
rs1555720788
|
|
NM_001037.5(SCN1B):c.448+67A>G
|
|
|
NM_001037.5(SCN1B):c.448+68G>T
|
rs2151746554
|
|
NM_001037.5(SCN1B):c.448+77C>A
|
rs2064230789
|
|
NM_001037.5(SCN1B):c.448+7C>G
|
rs748379474
|
|
NM_001037.5(SCN1B):c.448+82C>T
|
|
|
NM_001037.5(SCN1B):c.448+85G>T
|
rs2064230859
|
|
NM_001037.5(SCN1B):c.448+90C>T
|
rs781079912
|
|
NM_001037.5(SCN1B):c.448+97C>T
|
|
|
NM_001037.5(SCN1B):c.448G>T (p.Ala150Ser)
|
rs1034016541
|
|
NM_001037.5(SCN1B):c.449-10G>A
|
rs1049927697
|
|
NM_001037.5(SCN1B):c.449-3C>T
|
rs370937269
|
|
NM_001037.5(SCN1B):c.449-5T>C
|
|
|
NM_001037.5(SCN1B):c.449-9C>A
|
rs786205829
|
|
NM_001037.5(SCN1B):c.449C>T (p.Ala150Val)
|
rs1131691415
|
|
NM_001037.5(SCN1B):c.455G>A (p.Arg152Lys)
|
rs760072940
|
|
NM_001037.5(SCN1B):c.457_458delinsT (p.Asp153fs)
|
|
|
NM_001037.5(SCN1B):c.460A>G (p.Met154Val)
|
|
|
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr)
|
rs1432198305
|
|
NM_001037.5(SCN1B):c.463G>T (p.Ala155Ser)
|
|
|
NM_001037.5(SCN1B):c.469A>T (p.Ile157Phe)
|
|
|
NM_001037.5(SCN1B):c.471C>A (p.Ile157=)
|
|
|
NM_001037.5(SCN1B):c.471C>G (p.Ile157Met)
|
rs765269835
|
|
NM_001037.5(SCN1B):c.487A>G (p.Met163Val)
|
rs767608329
|
|
NM_001037.5(SCN1B):c.489G>A (p.Met163Ile)
|
rs2151748748
|
|
NM_001037.5(SCN1B):c.498C>T (p.Leu166=)
|
|
|
NM_001037.5(SCN1B):c.504G>A (p.Val168=)
|
|
|
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val)
|
rs748491132
|
|
NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)
|
|
|
NM_001037.5(SCN1B):c.514A>C (p.Ile172Leu)
|
|
|
NM_001037.5(SCN1B):c.517T>C (p.Trp173Arg)
|
|
|
NM_001037.5(SCN1B):c.520C>T (p.Leu174Phe)
|
|
|
NM_001037.5(SCN1B):c.523G>T (p.Val175Leu)
|
rs776213428
|
|
NM_001037.5(SCN1B):c.527C>T (p.Ala176Val)
|
|
|
NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)
|
|
|
NM_001037.5(SCN1B):c.549G>A (p.Lys183=)
|
|
|
NM_001037.5(SCN1B):c.555C>G (p.Ile185Met)
|
|
|
NM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)
|
|
|
NM_001037.5(SCN1B):c.563C>T (p.Ala188Val)
|
|
|
NM_001037.5(SCN1B):c.564C>T (p.Ala188=)
|
|
|
NM_001037.5(SCN1B):c.567G>A (p.Thr189=)
|
|
|
NM_001037.5(SCN1B):c.581A>G (p.Gln194Arg)
|
|
|
NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)
|
rs2151748815
|
|
NM_001037.5(SCN1B):c.58G>A (p.Gly20Ser)
|
|
|
NM_001037.5(SCN1B):c.590+1G>A
|
rs112767703
|
|
NM_001037.5(SCN1B):c.590+3G>T
|
|
|
NM_001037.5(SCN1B):c.590+8G>C
|
|
|
NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)
|
|
|
NM_001037.5(SCN1B):c.591-12_606del
|
|
|
NM_001037.5(SCN1B):c.591-16G>C
|
|
|
NM_001037.5(SCN1B):c.591-2A>G
|
rs2151749034
|
|
NM_001037.5(SCN1B):c.591-3C>T
|
rs2151749033
|
|
NM_001037.5(SCN1B):c.591-5dup
|
|
|
NM_001037.5(SCN1B):c.591-8C>T
|
|
|
NM_001037.5(SCN1B):c.593C>A (p.Ser198Ter)
|
|
|
NM_001037.5(SCN1B):c.5G>T (p.Gly2Val)
|
|
|
NM_001037.5(SCN1B):c.611C>A (p.Thr204Asn)
|
rs2151749048
|
|
NM_001037.5(SCN1B):c.611C>G (p.Thr204Ser)
|
|
|
NM_001037.5(SCN1B):c.615dup (p.Glu206Ter)
|
rs1555721523
|
|
NM_001037.5(SCN1B):c.617A>G (p.Glu206Gly)
|
|
|
NM_001037.5(SCN1B):c.622A>C (p.Lys208Gln)
|
rs2151749056
|
|
NM_001037.5(SCN1B):c.630C>G (p.Asn210Lys)
|
|
|
NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
|
|
|
NM_001037.5(SCN1B):c.634A>C (p.Thr212Pro)
|
|
|
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
|
|
|
NM_001037.5(SCN1B):c.639C>T (p.Gly213=)
|
|
|
NM_001037.5(SCN1B):c.652G>A (p.Glu218Lys)
|
rs1555721538
|
|
NM_001037.5(SCN1B):c.655T>C (p.Ter219Gln)
|
rs2151749083
|
|
NM_001037.5(SCN1B):c.71T>A (p.Val24Glu)
|
|
|
NM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)
|
|
|
NM_001037.5(SCN1B):c.82A>T (p.Thr28Ser)
|
|
|
NM_001037.5(SCN1B):c.89C>A (p.Ala30Asp)
|
|
|
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met)
|
rs2151745336
|
|
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)
|
|
|
NM_001037.5(SCN1B):c.97G>A (p.Gly33Arg)
|
rs2064221039
|
|
NM_001037.5(SCN1B):c.98G>T (p.Gly33Val)
|
rs2151745999
|
|
NM_001038.6(SCNN1A):c.1486G>A (p.Val496Met)
|
|
|
NM_001040151.2(SCN3B):c.*1007dup
|
rs72553907
|
|
NM_001040151.2(SCN3B):c.*1948TATT[2]
|
rs776449566
|
|
NM_001040151.2(SCN3B):c.*2795GAA[1]
|
rs544984224
|
|
NM_001040151.2(SCN3B):c.*447C>A
|
rs80017720
|
|
NM_001040151.2(SCN3B):c.-62del
|
rs886047904
|
|
NM_001040151.2(SCN3B):c.117C>G (p.Asn39Lys)
|
|
|
NM_001040151.2(SCN3B):c.118C>T (p.Pro40Ser)
|
rs762633602
|
|
NM_001040151.2(SCN3B):c.130C>T (p.Arg44Cys)
|
|
|
NM_001040151.2(SCN3B):c.139T>A (p.Ser47Thr)
|
|
|
NM_001040151.2(SCN3B):c.13A>G (p.Asn5Asp)
|
|
|
NM_001040151.2(SCN3B):c.173C>T (p.Thr58Met)
|
|
|
NM_001040151.2(SCN3B):c.205G>A (p.Gly69Ser)
|
rs1020414330
|
|
NM_001040151.2(SCN3B):c.20T>G (p.Leu7Trp)
|
|
|
NM_001040151.2(SCN3B):c.219+2T>C
|
rs750105827
|
|
NM_001040151.2(SCN3B):c.241C>T (p.His81Tyr)
|
|
|
NM_001040151.2(SCN3B):c.244C>T (p.Gln82Ter)
|
|
|
NM_001040151.2(SCN3B):c.256del (p.Ser86fs)
|
rs1955806072
|
|
NM_001040151.2(SCN3B):c.272G>A (p.Arg91His)
|
|
|
NM_001040151.2(SCN3B):c.291C>G (p.Ser97Arg)
|
|
|
NM_001040151.2(SCN3B):c.295G>A (p.Asp99Asn)
|
rs753656773
|
|
NM_001040151.2(SCN3B):c.301C>A (p.Gln101Lys)
|
|
|
NM_001040151.2(SCN3B):c.31G>A (p.Ala11Thr)
|
rs1955959844
|
|
NM_001040151.2(SCN3B):c.322C>T (p.Leu108Phe)
|
|
|
NM_001040151.2(SCN3B):c.331A>T (p.Thr111Ser)
|
|
|
NM_001040151.2(SCN3B):c.340G>A (p.Asp114Asn)
|
|
|
NM_001040151.2(SCN3B):c.371G>A (p.Arg124Gln)
|
|
|
NM_001040151.2(SCN3B):c.38T>C (p.Leu13Pro)
|
rs1955959753
|
|
NM_001040151.2(SCN3B):c.392_397del (p.His131_Arg132del)
|
rs2137241970
|
|
NM_001040151.2(SCN3B):c.407A>G (p.Lys136Arg)
|
|
|
NM_001040151.2(SCN3B):c.409ACG[1] (p.Thr138del)
|
rs72552144
|
|
NM_001040151.2(SCN3B):c.423C>G (p.Ile141Met)
|
rs879253730
|
|
NM_001040151.2(SCN3B):c.436A>G (p.Thr146Ala)
|
|
|
NM_001040151.2(SCN3B):c.446C>G (p.Ala149Gly)
|
rs2137236047
|
|
NM_001040151.2(SCN3B):c.460A>G (p.Thr154Ala)
|
|
|
NM_001040151.2(SCN3B):c.46A>G (p.Ile16Val)
|
rs1306658128
|
|
NM_001040151.2(SCN3B):c.50A>G (p.Tyr17Cys)
|
|
|
NM_001040151.2(SCN3B):c.535T>C (p.Tyr179His)
|
|
|
NM_001040151.2(SCN3B):c.541T>A (p.Tyr181Asn)
|
|
|
NM_001040151.2(SCN3B):c.574C>G (p.Gln192Glu)
|
|
|
NM_001040151.2(SCN3B):c.584C>T (p.Ala195Val)
|
|
|
NM_001040151.2(SCN3B):c.585-1G>C
|
|
|
NM_001040151.2(SCN3B):c.601A>G (p.Ile201Val)
|
|
|
NM_001040151.2(SCN3B):c.608C>T (p.Ser203Phe)
|
|
|
NM_001040151.2(SCN3B):c.618G>C (p.Lys206Asn)
|
|
|
NM_001040151.2(SCN3B):c.65G>A (p.Cys22Tyr)
|
|
|
NM_001040151.2(SCN3B):c.82G>C (p.Glu28Gln)
|
|
|
NM_001040151.2(SCN3B):c.92C>T (p.Ser31Leu)
|
|
|
NM_001040151.2(SCN3B):c.95A>G (p.Glu32Gly)
|
|
|
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter)
|
rs577421914
|
|
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)
|
rs547323858
|
|
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)
|
rs730880049
|
|
NM_001148.6(ANK2):c.8899C>G (p.Pro2967Ala)
|
|
|
NM_001267550.2(TTN):c.65143C>G (p.Arg21715Gly)
|
rs766522121
|
|
NM_001267550.2(TTN):c.75637G>T (p.Val25213Phe)
|
rs72646901
|
|
NM_001377540.1(SLMAP):c.*37G>A
|
|
|
NM_001377540.1(SLMAP):c.*70G>A
|
|
|
NM_001377540.1(SLMAP):c.*94C>G
|
|
|
NM_001377540.1(SLMAP):c.1009G>A (p.Ala337Thr)
|
|
|
NM_001377540.1(SLMAP):c.1010C>T (p.Ala337Val)
|
|
|
NM_001377540.1(SLMAP):c.1012G>C (p.Glu338Gln)
|
rs2153604748
|
|
NM_001377540.1(SLMAP):c.1084G>T (p.Ala362Ser)
|
|
|
NM_001377540.1(SLMAP):c.1105T>G (p.Phe369Val)
|
|
|
NM_001377540.1(SLMAP):c.1112A>G (p.Asn371Ser)
|
|
|
NM_001377540.1(SLMAP):c.1119G>C (p.Arg373Ser)
|
|
|
NM_001377540.1(SLMAP):c.1131_1132delinsCA (p.Leu377_Gln378delinsPheLys)
|
rs1577969548
|
|
NM_001377540.1(SLMAP):c.1135+6T>G
|
|
|
NM_001377540.1(SLMAP):c.113G>T (p.Arg38Leu)
|
|
|
NM_001377540.1(SLMAP):c.119C>T (p.Ala40Val)
|
rs1228536991
|
|
NM_001377540.1(SLMAP):c.120_121delinsAA (p.Gln41Lys)
|
|
|
NM_001377540.1(SLMAP):c.1238-3T>C
|
|
|
NM_001377540.1(SLMAP):c.1238-9_1238-6del
|
|
|
NM_001377540.1(SLMAP):c.1245G>C (p.Leu415Phe)
|
|
|
NM_001377540.1(SLMAP):c.1249T>G (p.Ser417Ala)
|
rs2095481948
|
|
NM_001377540.1(SLMAP):c.1258G>A (p.Gly420Ser)
|
|
|
NM_001377540.1(SLMAP):c.1260C>T (p.Gly420=)
|
|
|
NM_001377540.1(SLMAP):c.1301-20A>G
|
|
|
NM_001377540.1(SLMAP):c.1315G>A (p.Glu439Lys)
|
rs747337211
|
|
NM_001377540.1(SLMAP):c.1315G>C (p.Glu439Gln)
|
|
|
NM_001377540.1(SLMAP):c.1328C>G (p.Thr443Ser)
|
|
|
NM_001377540.1(SLMAP):c.1337T>C (p.Val446Ala)
|
|
|
NM_001377540.1(SLMAP):c.1343A>G (p.Glu448Gly)
|
rs755917730
|
|
NM_001377540.1(SLMAP):c.1346C>A (p.Thr449Lys)
|
|
|
NM_001377540.1(SLMAP):c.1368G>T (p.Gln456His)
|
|
|
NM_001377540.1(SLMAP):c.1382A>C (p.Glu461Ala)
|
rs901233405
|
|
NM_001377540.1(SLMAP):c.1423A>T (p.Ser475Cys)
|
|
|
NM_001377540.1(SLMAP):c.1429G>A (p.Asp477Asn)
|
|
|
NM_001377540.1(SLMAP):c.1432G>A (p.Asp478Asn)
|
rs1016820088
|
|
NM_001377540.1(SLMAP):c.1435A>G (p.Thr479Ala)
|
|
|
NM_001377540.1(SLMAP):c.1440A>C (p.Thr480=)
|
|
|
NM_001377540.1(SLMAP):c.1442-3T>C
|
|
|
NM_001377540.1(SLMAP):c.1462G>T (p.Asp488Tyr)
|
|
|
NM_001377540.1(SLMAP):c.1477C>T (p.Leu493Phe)
|
|
|
NM_001377540.1(SLMAP):c.1483A>C (p.Lys495Gln)
|
|
|
NM_001377540.1(SLMAP):c.1501+1del
|
rs1446668420
|
|
NM_001377540.1(SLMAP):c.1501+4C>T
|
rs539985706
|
|
NM_001377540.1(SLMAP):c.1528A>G (p.Ile510Val)
|
rs2096607019
|
|
NM_001377540.1(SLMAP):c.1559G>A (p.Arg520Gln)
|
rs765688735
|
|
NM_001377540.1(SLMAP):c.1569G>T (p.Leu523Phe)
|
|
|
NM_001377540.1(SLMAP):c.1580A>C (p.Gln527Pro)
|
|
|
NM_001377540.1(SLMAP):c.1686A>G (p.Ile562Met)
|
rs2096633047
|
|
NM_001377540.1(SLMAP):c.1693C>G (p.Leu565Val)
|
|
|
NM_001377540.1(SLMAP):c.1699+4T>G
|
|
|
NM_001377540.1(SLMAP):c.1720A>G (p.Ile574Val)
|
|
|
NM_001377540.1(SLMAP):c.1723G>A (p.Asp575Asn)
|
|
|
NM_001377540.1(SLMAP):c.1727C>T (p.Thr576Ile)
|
|
|
NM_001377540.1(SLMAP):c.1739G>A (p.Arg580Gln)
|
rs138744399
|
|
NM_001377540.1(SLMAP):c.1747_1749del (p.Lys583del)
|
|
|
NM_001377540.1(SLMAP):c.1753A>C (p.Ser585Arg)
|
rs370779290
|
|
NM_001377540.1(SLMAP):c.1784T>C (p.Leu595Pro)
|
|
|
NM_001377540.1(SLMAP):c.1790C>T (p.Ala597Val)
|
|
|
NM_001377540.1(SLMAP):c.1798G>A (p.Glu600Lys)
|
|
|
NM_001377540.1(SLMAP):c.1806G>T (p.Leu602Phe)
|
|
|
NM_001377540.1(SLMAP):c.1831G>T (p.Val611Phe)
|
|
|
NM_001377540.1(SLMAP):c.1844G>A (p.Arg615Gln)
|
|
|
NM_001377540.1(SLMAP):c.1844G>C (p.Arg615Pro)
|
|
|
NM_001377540.1(SLMAP):c.1872A>C (p.Glu624Asp)
|
|
|
NM_001377540.1(SLMAP):c.1896G>T (p.Glu632Asp)
|
|
|
NM_001377540.1(SLMAP):c.1897C>G (p.Leu633Val)
|
|
|
NM_001377540.1(SLMAP):c.1903C>T (p.Arg635Trp)
|
|
|
NM_001377540.1(SLMAP):c.1910G>A (p.Arg637Gln)
|
|
|
NM_001377540.1(SLMAP):c.1916C>T (p.Ala639Val)
|
|
|
NM_001377540.1(SLMAP):c.1987G>T (p.Asp663Tyr)
|
|
|
NM_001377540.1(SLMAP):c.1988A>T (p.Asp663Val)
|
rs140982905
|
|
NM_001377540.1(SLMAP):c.1992G>T (p.Gln664His)
|
|
|
NM_001377540.1(SLMAP):c.1997G>A (p.Arg666Lys)
|
|
|
NM_001377540.1(SLMAP):c.205C>A (p.Leu69Ile)
|
|
|
NM_001377540.1(SLMAP):c.211G>T (p.Asp71Tyr)
|
rs2093330967
|
|
NM_001377540.1(SLMAP):c.2123A>G (p.Glu708Gly)
|
|
|
NM_001377540.1(SLMAP):c.2137A>G (p.Asn713Asp)
|
|
|
NM_001377540.1(SLMAP):c.2141C>A (p.Ser714Tyr)
|
|
|
NM_001377540.1(SLMAP):c.2145G>C (p.Gln715His)
|
|
|
NM_001377540.1(SLMAP):c.2153G>A (p.Ser718Asn)
|
|
|
NM_001377540.1(SLMAP):c.2158G>A (p.Glu720Lys)
|
|
|
NM_001377540.1(SLMAP):c.2180T>C (p.Ile727Thr)
|
|
|
NM_001377540.1(SLMAP):c.2182C>T (p.Leu728Phe)
|
rs2153698213
|
|
NM_001377540.1(SLMAP):c.2190G>A (p.Met730Ile)
|
|
|
NM_001377540.1(SLMAP):c.2242C>T (p.Arg748Trp)
|
|
|
NM_001377540.1(SLMAP):c.2312A>G (p.Tyr771Cys)
|
|
|
NM_001377540.1(SLMAP):c.2353T>C (p.Phe785Leu)
|
|
|
NM_001377540.1(SLMAP):c.2357A>G (p.Glu786Gly)
|
|
|
NM_001377540.1(SLMAP):c.2361G>T (p.Met787Ile)
|
|
|
NM_001377540.1(SLMAP):c.2362A>T (p.Thr788Ser)
|
|
|
NM_001377540.1(SLMAP):c.238A>G (p.Ile80Val)
|
rs901486021
|
|
NM_001377540.1(SLMAP):c.2429G>A (p.Arg810Gln)
|
|
|
NM_001377540.1(SLMAP):c.2437G>A (p.Gly813Arg)
|
rs1444785203
|
|
NM_001377540.1(SLMAP):c.2440A>G (p.Asn814Asp)
|
rs1214562198
|
|
NM_001377540.1(SLMAP):c.2441A>G (p.Asn814Ser)
|
|
|
NM_001377540.1(SLMAP):c.258T>G (p.Ser86Arg)
|
rs2093332186
|
|
NM_001377540.1(SLMAP):c.260G>A (p.Arg87Gln)
|
|
|
NM_001377540.1(SLMAP):c.265T>G (p.Ser89Ala)
|
rs2153547258
|
|
NM_001377540.1(SLMAP):c.275G>A (p.Ser92Asn)
|
|
|
NM_001377540.1(SLMAP):c.346+5G>A
|
rs2093334864
|
|
NM_001377540.1(SLMAP):c.347-1G>T
|
rs1060503190
|
|
NM_001377540.1(SLMAP):c.413G>C (p.Arg138Pro)
|
|
|
NM_001377540.1(SLMAP):c.419+3G>A
|
|
|
NM_001377540.1(SLMAP):c.421G>A (p.Val141Ile)
|
|
|
NM_001377540.1(SLMAP):c.436_441del (p.Leu146_Pro147del)
|
|
|
NM_001377540.1(SLMAP):c.43C>A (p.His15Asn)
|
|
|
NM_001377540.1(SLMAP):c.440C>G (p.Pro147Arg)
|
|
|
NM_001377540.1(SLMAP):c.456+3A>G
|
|
|
NM_001377540.1(SLMAP):c.473C>T (p.Pro158Leu)
|
|
|
NM_001377540.1(SLMAP):c.482A>C (p.Tyr161Ser)
|
|
|
NM_001377540.1(SLMAP):c.563C>A (p.Thr188Lys)
|
|
|
NM_001377540.1(SLMAP):c.626A>G (p.Asp209Gly)
|
|
|
NM_001377540.1(SLMAP):c.633_641dup (p.Leu213_Leu214insPheArgLeu)
|
|
|
NM_001377540.1(SLMAP):c.652G>A (p.Glu218Lys)
|
rs1577820022
|
|
NM_001377540.1(SLMAP):c.655G>C (p.Val219Leu)
|
|
|
NM_001377540.1(SLMAP):c.703A>G (p.Ser235Gly)
|
rs774215191
|
|
NM_001377540.1(SLMAP):c.732del (p.Glu245fs)
|
|
|
NM_001377540.1(SLMAP):c.776G>A (p.Arg259Lys)
|
rs2153599158
|
|
NM_001377540.1(SLMAP):c.790G>C (p.Glu264Gln)
|
rs2153599173
|
|
NM_001377540.1(SLMAP):c.79C>G (p.Pro27Ala)
|
|
|
NM_001377540.1(SLMAP):c.809G>C (p.Arg270Thr)
|
|
|
NM_001377540.1(SLMAP):c.820G>C (p.Glu274Gln)
|
|
|
NM_001377540.1(SLMAP):c.826G>A (p.Glu276Lys)
|
|
|
NM_001377540.1(SLMAP):c.832A>G (p.Ser278Gly)
|
|
|
NM_001377540.1(SLMAP):c.852T>G (p.Asp284Glu)
|
rs2153600640
|
|
NM_001377540.1(SLMAP):c.875T>C (p.Met292Thr)
|
|
|
NM_001377540.1(SLMAP):c.878A>G (p.Asn293Ser)
|
|
|
NM_001377540.1(SLMAP):c.906del (p.Glu302fs)
|
|
|
NM_001377540.1(SLMAP):c.925G>A (p.Gly309Arg)
|
|
|
NM_001377540.1(SLMAP):c.928G>A (p.Ala310Thr)
|
rs754387957
|
|
NM_001377540.1(SLMAP):c.929C>T (p.Ala310Val)
|
|
|
NM_001377540.1(SLMAP):c.937G>A (p.Glu313Lys)
|
|
|
NM_001377540.1(SLMAP):c.941T>G (p.Ile314Ser)
|
rs779312973
|
|
NM_001377540.1(SLMAP):c.966+4T>A
|
rs2095093240
|
|
NM_001377540.1(SLMAP):c.990A>C (p.Glu330Asp)
|
|
|
NM_001377540.1(SLMAP):c.990A>T (p.Glu330Asp)
|
|
|
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)
|
rs786205867
|
|
NM_001378969.1(KCND3):c.1227T>G (p.Ile409Met)
|
|
|
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)
|
rs976664434
|
|
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)
|
rs1447493103
|
|
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)
|
rs778053688
|
|
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
|
|
|
NM_001378969.1(KCND3):c.817G>A (p.Gly273Ser)
|
rs869025444
|
|
NM_003239.5(TGFB3):c.782G>A (p.Arg261His)
|
rs547264290
|
|
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys)
|
rs756481791
|
|
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)
|
|
|
NM_004982.4(KCNJ8):c.1055G>T (p.Arg352Leu)
|
rs747622709
|
|
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)
|
|
|
NM_004982.4(KCNJ8):c.1070A>G (p.Glu357Gly)
|
rs1591883003
|
|
NM_004982.4(KCNJ8):c.112G>T (p.Ala38Ser)
|
rs1555172510
|
|
NM_004982.4(KCNJ8):c.1148G>A (p.Arg383His)
|
rs764730358
|
|
NM_004982.4(KCNJ8):c.1156A>C (p.Met386Leu)
|
|
|
NM_004982.4(KCNJ8):c.1176G>A (p.Met392Ile)
|
rs1940604697
|
|
NM_004982.4(KCNJ8):c.1179_1196dup (p.Ile398_Ser403dup)
|
rs2137047060
|
|
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser)
|
rs730880120
|
|
NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser)
|
|
|
NM_004982.4(KCNJ8):c.1218G>A (p.Met406Ile)
|
rs1591882812
|
|
NM_004982.4(KCNJ8):c.1232A>C (p.Gln411Pro)
|
rs1940602689
|
|
NM_004982.4(KCNJ8):c.1236T>G (p.Phe412Leu)
|
|
|
NM_004982.4(KCNJ8):c.1243_1244del (p.Pro415fs)
|
|
|
NM_004982.4(KCNJ8):c.137C>T (p.Ala46Val)
|
rs1565662161
|
|
NM_004982.4(KCNJ8):c.192G>C (p.Leu64Phe)
|
|
|
NM_004982.4(KCNJ8):c.265A>G (p.Ile89Val)
|
|
|
NM_004982.4(KCNJ8):c.290C>A (p.Ala97Asp)
|
rs1940805358
|
|
NM_004982.4(KCNJ8):c.2dup (p.Met1fs)
|
|
|
NM_004982.4(KCNJ8):c.328A>C (p.Met110Leu)
|
|
|
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser)
|
rs770087869
|
|
NM_004982.4(KCNJ8):c.381C>G (p.Phe127Leu)
|
|
|
NM_004982.4(KCNJ8):c.55G>A (p.Ala19Thr)
|
|
|
NM_004982.4(KCNJ8):c.583C>T (p.Arg195Cys)
|
rs1940624368
|
|
NM_004982.4(KCNJ8):c.584G>A (p.Arg195His)
|
|
|
NM_004982.4(KCNJ8):c.586C>T (p.His196Tyr)
|
|
|
NM_004982.4(KCNJ8):c.635T>C (p.Val212Ala)
|
|
|
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala)
|
rs146747000
|
|
NM_004982.4(KCNJ8):c.71_79dup (p.Lys24_Arg26dup)
|
rs1447944616
|
|
NM_004982.4(KCNJ8):c.753T>G (p.Asp251Glu)
|
|
|
NM_004982.4(KCNJ8):c.757C>A (p.Pro253Thr)
|
|
|
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val)
|
rs1235054283
|
|
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp)
|
|
|
NM_004982.4(KCNJ8):c.778T>C (p.Phe260Leu)
|
rs1940616222
|
|
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)
|
|
|
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro)
|
rs768851540
|
|
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser)
|
rs749697322
|
|
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys)
|
rs749697322
|
|
NM_004982.4(KCNJ8):c.914T>A (p.Ile305Asn)
|
|
|
NM_004982.4(KCNJ8):c.94C>T (p.Pro32Ser)
|
rs2137052056
|
|
NM_004982.4(KCNJ8):c.953T>G (p.Ile318Ser)
|
|
|
NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu)
|
|
|
NM_004982.4(KCNJ8):c.980T>C (p.Ile327Thr)
|
rs1940609307
|
|
NM_005472.5(KCNE3):c.*1073AT[17]
|
rs113583236
|
|
NM_005472.5(KCNE3):c.*1073AT[19]
|
rs113583236
|
|
NM_005472.5(KCNE3):c.*1073AT[9]
|
rs113583236
|
|
NM_005472.5(KCNE3):c.*919_*922dup
|
rs60016728
|
|
NM_005472.5(KCNE3):c.*920_*922dup
|
rs60016728
|
|
NM_005472.5(KCNE3):c.*923_*924insTTT
|
rs886048651
|
|
NM_005472.5(KCNE3):c.103C>T (p.Pro35Ser)
|
|
|
NM_005472.5(KCNE3):c.104C>T (p.Pro35Leu)
|
|
|
NM_005472.5(KCNE3):c.134A>C (p.Glu45Ala)
|
rs764834315
|
|
NM_005472.5(KCNE3):c.139C>G (p.Arg47Gly)
|
|
|
NM_005472.5(KCNE3):c.139C>T (p.Arg47Trp)
|
|
|
NM_005472.5(KCNE3):c.140G>A (p.Arg47Gln)
|
|
|
NM_005472.5(KCNE3):c.157C>T (p.Arg53Cys)
|
|
|
NM_005472.5(KCNE3):c.158G>T (p.Arg53Leu)
|
rs565287436
|
|
NM_005472.5(KCNE3):c.173A>G (p.Tyr58Cys)
|
|
|
NM_005472.5(KCNE3):c.175A>C (p.Met59Leu)
|
rs1555108630
|
|
NM_005472.5(KCNE3):c.195G>A (p.Met65Ile)
|
|
|
NM_005472.5(KCNE3):c.215T>G (p.Val72Gly)
|
rs202036216
|
|
NM_005472.5(KCNE3):c.22G>T (p.Glu8Ter)
|
|
|
NM_005472.5(KCNE3):c.242G>A (p.Arg81His)
|
|
|
NM_005472.5(KCNE3):c.247C>T (p.Arg83Cys)
|
|
|
NM_005472.5(KCNE3):c.248G>C (p.Arg83Pro)
|
rs17215437
|
|
NM_005472.5(KCNE3):c.254T>C (p.Val85Ala)
|
|
|
NM_005472.5(KCNE3):c.25A>G (p.Thr9Ala)
|
rs2135004508
|
|
NM_005472.5(KCNE3):c.277C>T (p.His93Tyr)
|
|
|
NM_005472.5(KCNE3):c.278_279del (p.His93fs)
|
|
|
NM_005472.5(KCNE3):c.279T>A (p.His93Gln)
|
rs199972628
|
|
NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys)
|
|
|
NM_005472.5(KCNE3):c.310T>C (p.Ter104Gln)
|
rs141695803
|
|
NM_005472.5(KCNE3):c.35A>G (p.Glu12Gly)
|
rs2135004460
|
|
NM_005472.5(KCNE3):c.40C>A (p.Leu14Met)
|
|
|
NM_005472.5(KCNE3):c.46G>A (p.Ala16Thr)
|
|
|
NM_005472.5(KCNE3):c.69del (p.Thr24fs)
|
rs547172459
|
|
NM_005472.5(KCNE3):c.83A>G (p.Asn28Ser)
|
|
|
NM_005472.5(KCNE3):c.92G>A (p.Cys31Tyr)
|
|
|
NM_005477.3(HCN4):c.1000A>G (p.Lys334Glu)
|
rs1316189390
|
|
NM_005477.3(HCN4):c.1004T>G (p.Met335Arg)
|
|
|
NM_005477.3(HCN4):c.1009T>C (p.Tyr337His)
|
|
|
NM_005477.3(HCN4):c.1018A>G (p.Ser340Gly)
|
|
|
NM_005477.3(HCN4):c.1023G>C (p.Trp341Cys)
|
rs1555477308
|
|
NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu)
|
rs2043017188
|
|
NM_005477.3(HCN4):c.1027A>T (p.Met343Leu)
|
|
|
NM_005477.3(HCN4):c.1053del (p.Val352fs)
|
|
|
NM_005477.3(HCN4):c.1054G>A (p.Val352Met)
|
rs1170518463
|
|
NM_005477.3(HCN4):c.1063A>G (p.Ile355Val)
|
|
|
NM_005477.3(HCN4):c.1069C>G (p.Leu357Val)
|
|
|
NM_005477.3(HCN4):c.106G>A (p.Gly36Arg)
|
rs886039001
|
|
NM_005477.3(HCN4):c.106G>C (p.Gly36Arg)
|
rs886039001
|
|
NM_005477.3(HCN4):c.1070T>A (p.Leu357His)
|
rs2043016942
|
|
NM_005477.3(HCN4):c.1074T>A (p.Ile358=)
|
rs1444977026
|
|
NM_005477.3(HCN4):c.107G>T (p.Gly36Val)
|
|
|
NM_005477.3(HCN4):c.1084C>T (p.Arg362Cys)
|
|
|
NM_005477.3(HCN4):c.1085G>A (p.Arg362His)
|
|
|
NM_005477.3(HCN4):c.1090G>C (p.Asp364His)
|
rs151004999
|
|
NM_005477.3(HCN4):c.1090G>T (p.Asp364Tyr)
|
rs151004999
|
|
NM_005477.3(HCN4):c.1103A>G (p.Tyr368Cys)
|
rs2043016672
|
|
NM_005477.3(HCN4):c.110C>A (p.Ala37Asp)
|
|
|
NM_005477.3(HCN4):c.110C>T (p.Ala37Val)
|
|
|
NM_005477.3(HCN4):c.1115G>C (p.Arg372Pro)
|
|
|
NM_005477.3(HCN4):c.1121T>C (p.Leu374Pro)
|
|
|
NM_005477.3(HCN4):c.1124G>A (p.Arg375His)
|
rs1238684043
|
|
NM_005477.3(HCN4):c.1126A>G (p.Ile376Val)
|
|
|
NM_005477.3(HCN4):c.1133G>A (p.Arg378His)
|
rs1347790774
|
|
NM_005477.3(HCN4):c.1139C>T (p.Thr380Met)
|
|
|
NM_005477.3(HCN4):c.113_119dup (p.Gln41fs)
|
|
|
NM_005477.3(HCN4):c.1158dup (p.Arg387fs)
|
rs2151221157
|
|
NM_005477.3(HCN4):c.1159C>G (p.Arg387Gly)
|
rs1420807618
|
|
NM_005477.3(HCN4):c.1159C>T (p.Arg387Cys)
|
rs1420807618
|
|
NM_005477.3(HCN4):c.1167dup (p.Arg390fs)
|
rs2043016217
|
|
NM_005477.3(HCN4):c.1168C>T (p.Arg390Cys)
|
rs918783630
|
|
NM_005477.3(HCN4):c.1178G>A (p.Arg393His)
|
rs786205804
|
|
NM_005477.3(HCN4):c.1190A>C (p.Tyr397Ser)
|
rs2043016094
|
|
NM_005477.3(HCN4):c.119G>A (p.Arg40His)
|
|
|
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA
|
rs786205418
|
|
NM_005477.3(HCN4):c.1209+3A>G
|
|
|
NM_005477.3(HCN4):c.1209+4A>G
|
rs2043015976
|
|
NM_005477.3(HCN4):c.1231C>G (p.Leu411Val)
|
|
|
NM_005477.3(HCN4):c.1240G>A (p.Ala414Thr)
|
rs750638846
|
|
NM_005477.3(HCN4):c.1241C>T (p.Ala414Val)
|
|
|
NM_005477.3(HCN4):c.1246G>T (p.Val416Leu)
|
rs1360500444
|
|
NM_005477.3(HCN4):c.1249C>T (p.Arg417Cys)
|
|
|
NM_005477.3(HCN4):c.1250G>A (p.Arg417His)
|
rs981385410
|
|
NM_005477.3(HCN4):c.1255G>A (p.Val419Met)
|
|
|
NM_005477.3(HCN4):c.1256T>G (p.Val419Gly)
|
|
|
NM_005477.3(HCN4):c.1261C>T (p.Leu421Phe)
|
|
|
NM_005477.3(HCN4):c.1267G>A (p.Gly423Ser)
|
|
|
NM_005477.3(HCN4):c.1308G>T (p.Gln436His)
|
rs1567777058
|
|
NM_005477.3(HCN4):c.130A>C (p.Ser44Arg)
|
rs2043138506
|
|
NM_005477.3(HCN4):c.1315G>A (p.Val439Ile)
|
|
|
NM_005477.3(HCN4):c.1315G>C (p.Val439Leu)
|
rs769157750
|
|
NM_005477.3(HCN4):c.131G>A (p.Ser44Asn)
|
rs2151228715
|
|
NM_005477.3(HCN4):c.133C>A (p.Arg45Ser)
|
|
|
NM_005477.3(HCN4):c.1342G>A (p.Asp448Asn)
|
|
|
NM_005477.3(HCN4):c.1349G>C (p.Trp450Ser)
|
rs1567776985
|
|
NM_005477.3(HCN4):c.1355C>T (p.Ser452Phe)
|
|
|
NM_005477.3(HCN4):c.1357A>G (p.Ile453Val)
|
rs1394017911
|
|
NM_005477.3(HCN4):c.1368G>A (p.Met456Ile)
|
|
|
NM_005477.3(HCN4):c.136A>G (p.Arg46Gly)
|
|
|
NM_005477.3(HCN4):c.1381T>G (p.Trp461Gly)
|
|
|
NM_005477.3(HCN4):c.1382G>T (p.Trp461Leu)
|
|
|
NM_005477.3(HCN4):c.1387A>G (p.Lys463Glu)
|
|
|
NM_005477.3(HCN4):c.1388A>G (p.Lys463Arg)
|
rs2151217077
|
|
NM_005477.3(HCN4):c.1390C>T (p.Gln464Ter)
|
|
|
NM_005477.3(HCN4):c.13C>T (p.Pro5Ser)
|
|
|
NM_005477.3(HCN4):c.140G>A (p.Ser47Asn)
|
|
|
NM_005477.3(HCN4):c.1414G>A (p.Ala472Thr)
|
|
|
NM_005477.3(HCN4):c.1415C>T (p.Ala472Val)
|
|
|
NM_005477.3(HCN4):c.1417A>G (p.Met473Val)
|
|
|
NM_005477.3(HCN4):c.1418T>C (p.Met473Thr)
|
rs1226036490
|
|
NM_005477.3(HCN4):c.1419G>A (p.Met473Ile)
|
rs1060500105
|
|
NM_005477.3(HCN4):c.1421G>A (p.Ser474Asn)
|
rs2151217059
|
|
NM_005477.3(HCN4):c.1424A>G (p.His475Arg)
|
rs2042921913
|
|
NM_005477.3(HCN4):c.1427T>C (p.Met476Thr)
|
|
|
NM_005477.3(HCN4):c.1430T>C (p.Leu477Pro)
|
|
|
NM_005477.3(HCN4):c.1442_1443delinsTG (p.Tyr481Leu)
|
|
|
NM_005477.3(HCN4):c.144C>G (p.Ile48Met)
|
|
|
NM_005477.3(HCN4):c.1456C>T (p.Pro486Ser)
|
rs2151217024
|
|
NM_005477.3(HCN4):c.145C>G (p.Arg49Gly)
|
|
|
NM_005477.3(HCN4):c.1467G>A (p.Met489Ile)
|
rs771198178
|
|
NM_005477.3(HCN4):c.146G>C (p.Arg49Pro)
|
|
|
NM_005477.3(HCN4):c.1480C>T (p.Leu494Phe)
|
rs2151217007
|
|
NM_005477.3(HCN4):c.1494C>A (p.Ser498Arg)
|
rs1567774949
|
|
NM_005477.3(HCN4):c.1494C>G (p.Ser498Arg)
|
rs1567774949
|
|
NM_005477.3(HCN4):c.1496T>C (p.Met499Thr)
|
|
|
NM_005477.3(HCN4):c.1501G>A (p.Val501Met)
|
|
|
NM_005477.3(HCN4):c.1511C>A (p.Thr504Asn)
|
rs1595822914
|
|
NM_005477.3(HCN4):c.1514G>A (p.Cys505Tyr)
|
|
|
NM_005477.3(HCN4):c.151C>T (p.Arg51Trp)
|
rs1555479061
|
|
NM_005477.3(HCN4):c.1522A>G (p.Met508Val)
|
|
|
NM_005477.3(HCN4):c.155C>T (p.Pro52Leu)
|
|
|
NM_005477.3(HCN4):c.1570C>T (p.Arg524Trp)
|
|
|
NM_005477.3(HCN4):c.1573C>T (p.Arg525Cys)
|
rs1429346819
|
|
NM_005477.3(HCN4):c.1574G>A (p.Arg525His)
|
|
|
NM_005477.3(HCN4):c.1590+1G>A
|
|
|
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn)
|
rs1555475961
|
|
NM_005477.3(HCN4):c.1591-1G>C
|
rs2042893660
|
|
NM_005477.3(HCN4):c.1597_1608del (p.Gln533_Gln536del)
|
|
|
NM_005477.3(HCN4):c.1600G>A (p.Val534Met)
|
rs2042893576
|
|
NM_005477.3(HCN4):c.1612A>C (p.Met538Leu)
|
|
|
NM_005477.3(HCN4):c.161C>T (p.Pro54Leu)
|
|
|
NM_005477.3(HCN4):c.1631C>T (p.Pro544Leu)
|
|
|
NM_005477.3(HCN4):c.1634C>T (p.Pro545Leu)
|
rs2151215654
|
|
NM_005477.3(HCN4):c.1642C>G (p.Arg548Gly)
|
|
|
NM_005477.3(HCN4):c.1642C>T (p.Arg548Trp)
|
rs2042893178
|
|
NM_005477.3(HCN4):c.1643G>A (p.Arg548Gln)
|
|
|
NM_005477.3(HCN4):c.1649G>A (p.Arg550His)
|
|
|
NM_005477.3(HCN4):c.1666G>A (p.Glu556Lys)
|
rs764177769
|
|
NM_005477.3(HCN4):c.1672C>T (p.Arg558Cys)
|
|
|
NM_005477.3(HCN4):c.1677C>G (p.Tyr559Ter)
|
|
|
NM_005477.3(HCN4):c.167C>T (p.Pro56Leu)
|
|
|
NM_005477.3(HCN4):c.1682G>A (p.Gly561Asp)
|
|
|
NM_005477.3(HCN4):c.1688T>C (p.Met563Thr)
|
|
|
NM_005477.3(HCN4):c.1688T>G (p.Met563Arg)
|
|
|
NM_005477.3(HCN4):c.1691del (p.Phe564fs)
|
|
|
NM_005477.3(HCN4):c.1693G>C (p.Asp565His)
|
rs201811340
|
|
NM_005477.3(HCN4):c.1696G>A (p.Glu566Lys)
|
rs1480242620
|
|
NM_005477.3(HCN4):c.1696G>T (p.Glu566Ter)
|
|
|
NM_005477.3(HCN4):c.16C>T (p.Pro6Ser)
|
|
|
NM_005477.3(HCN4):c.1706T>C (p.Ile569Thr)
|
|
|
NM_005477.3(HCN4):c.1711G>T (p.Gly571Cys)
|
|
|
NM_005477.3(HCN4):c.1723G>A (p.Glu575Lys)
|
|
|
NM_005477.3(HCN4):c.1725G>C (p.Glu575Asp)
|
rs764493888
|
|
NM_005477.3(HCN4):c.172C>G (p.Pro58Ala)
|
|
|
NM_005477.3(HCN4):c.172C>T (p.Pro58Ser)
|
rs1029043200
|
|
NM_005477.3(HCN4):c.1733G>A (p.Arg578Gln)
|
|
|
NM_005477.3(HCN4):c.1737+6C>T
|
rs2042892240
|
|
NM_005477.3(HCN4):c.1737G>A (p.Glu579=)
|
|
|
NM_005477.3(HCN4):c.1738-18A>G
|
rs2151215522
|
|
NM_005477.3(HCN4):c.1742TCA[1] (p.Ile582del)
|
|
|
NM_005477.3(HCN4):c.1759C>T (p.Arg587Trp)
|
|
|
NM_005477.3(HCN4):c.1790C>T (p.Ala597Val)
|
|
|
NM_005477.3(HCN4):c.1793A>G (p.Asn598Ser)
|
|
|
NM_005477.3(HCN4):c.179C>T (p.Ala60Val)
|
|
|
NM_005477.3(HCN4):c.17C>A (p.Pro6Gln)
|
rs772656493
|
|
NM_005477.3(HCN4):c.17C>G (p.Pro6Arg)
|
rs772656493
|
|
NM_005477.3(HCN4):c.1801C>T (p.Pro601Ser)
|
|
|
NM_005477.3(HCN4):c.1805A>G (p.Asn602Ser)
|
|
|
NM_005477.3(HCN4):c.1809C>A (p.Phe603Leu)
|
|
|
NM_005477.3(HCN4):c.1810G>A (p.Val604Met)
|
|
|
NM_005477.3(HCN4):c.1814C>T (p.Thr605Met)
|
|
|
NM_005477.3(HCN4):c.1817C>A (p.Ser606Tyr)
|
|
|
NM_005477.3(HCN4):c.1823T>C (p.Leu608Pro)
|
|
|
NM_005477.3(HCN4):c.182C>A (p.Ala61Asp)
|
|
|
NM_005477.3(HCN4):c.1834C>T (p.Arg612Cys)
|
|
|
NM_005477.3(HCN4):c.1835G>A (p.Arg612His)
|
|
|
NM_005477.3(HCN4):c.1837T>C (p.Phe613Leu)
|
|
|
NM_005477.3(HCN4):c.1844T>G (p.Val615Gly)
|
rs2042890755
|
|
NM_005477.3(HCN4):c.1846T>A (p.Phe616Ile)
|
|
|
NM_005477.3(HCN4):c.184G>C (p.Ala62Pro)
|
rs2151228688
|
|
NM_005477.3(HCN4):c.1858G>A (p.Asp620Asn)
|
rs2151215460
|
|
NM_005477.3(HCN4):c.185C>T (p.Ala62Val)
|
rs1595837637
|
|
NM_005477.3(HCN4):c.1864A>C (p.Ile622Leu)
|
|
|
NM_005477.3(HCN4):c.1870C>T (p.Arg624Trp)
|
rs545156905
|
|
NM_005477.3(HCN4):c.1895_1897del (p.Met632_Tyr633delinsAsn)
|
|
|
NM_005477.3(HCN4):c.190G>A (p.Gly64Ser)
|
|
|
NM_005477.3(HCN4):c.1913G>T (p.Gly638Val)
|
rs2151215427
|
|
NM_005477.3(HCN4):c.1918G>A (p.Val640Ile)
|
rs2151215421
|
|
NM_005477.3(HCN4):c.191G>A (p.Gly64Asp)
|
|
|
NM_005477.3(HCN4):c.1921A>G (p.Ser641Gly)
|
|
|
NM_005477.3(HCN4):c.1938CAA[1] (p.Asn647del)
|
|
|
NM_005477.3(HCN4):c.1943A>G (p.Lys648Arg)
|
|
|
NM_005477.3(HCN4):c.1948A>C (p.Thr650Pro)
|
rs2151215401
|
|
NM_005477.3(HCN4):c.1949C>G (p.Thr650Ser)
|
rs2151215400
|
|
NM_005477.3(HCN4):c.1960G>A (p.Asp654Asn)
|
|
|
NM_005477.3(HCN4):c.1964G>A (p.Gly655Asp)
|
|
|
NM_005477.3(HCN4):c.1966T>A (p.Ser656Thr)
|
|
|
NM_005477.3(HCN4):c.1966T>G (p.Ser656Ala)
|
rs377612051
|
|
NM_005477.3(HCN4):c.196G>A (p.Glu66Lys)
|
rs786205803
|
|
NM_005477.3(HCN4):c.196G>C (p.Glu66Gln)
|
rs786205803
|
|
NM_005477.3(HCN4):c.1970A>G (p.Tyr657Cys)
|
rs2042889743
|
|
NM_005477.3(HCN4):c.1978+3G>A
|
|
|
NM_005477.3(HCN4):c.1995_2009del (p.Arg666_Thr670del)
|
rs2042885237
|
|
NM_005477.3(HCN4):c.1996C>G (p.Arg666Gly)
|
|
|
NM_005477.3(HCN4):c.1A>G (p.Met1Val)
|
|
|
NM_005477.3(HCN4):c.2002C>T (p.Arg668Trp)
|
rs2151215096
|
|
NM_005477.3(HCN4):c.200C>T (p.Ser67Phe)
|
|
|
NM_005477.3(HCN4):c.2017G>A (p.Val673Met)
|
rs1337923566
|
|
NM_005477.3(HCN4):c.2022_2054del (p.Arg674_Leu684del)
|
|
|
NM_005477.3(HCN4):c.2030C>T (p.Thr677Ile)
|
|
|
NM_005477.3(HCN4):c.2033_2035del (p.Tyr678del)
|
rs2042884997
|
|
NM_005477.3(HCN4):c.2036G>A (p.Cys679Tyr)
|
rs2042884985
|
|
NM_005477.3(HCN4):c.2048C>T (p.Ser683Leu)
|
rs2042884942
|
|
NM_005477.3(HCN4):c.2056G>A (p.Val686Met)
|
rs550848544
|
|
NM_005477.3(HCN4):c.2061C>G (p.Asp687Glu)
|
|
|
NM_005477.3(HCN4):c.2062A>G (p.Asn688Asp)
|
rs2151215055
|
|
NM_005477.3(HCN4):c.2069A>T (p.Asn690Ile)
|
|
|
NM_005477.3(HCN4):c.2079_2080delinsTC (p.Glu694Gln)
|
|
|
NM_005477.3(HCN4):c.2090C>T (p.Pro697Leu)
|
rs931375055
|
|
NM_005477.3(HCN4):c.2099G>A (p.Arg700Gln)
|
|
|
NM_005477.3(HCN4):c.2107T>C (p.Phe703Leu)
|
|
|
NM_005477.3(HCN4):c.2110G>A (p.Glu704Lys)
|
|
|
NM_005477.3(HCN4):c.2116G>A (p.Val706Met)
|
rs1359396157
|
|
NM_005477.3(HCN4):c.2120C>T (p.Ala707Val)
|
rs2151215028
|
|
NM_005477.3(HCN4):c.2122CTGGACCGC[1] (p.708LDR[1])
|
|
|
NM_005477.3(HCN4):c.2128C>T (p.Arg710Cys)
|
|
|
NM_005477.3(HCN4):c.2129G>A (p.Arg710His)
|
|
|
NM_005477.3(HCN4):c.2129G>T (p.Arg710Leu)
|
|
|
NM_005477.3(HCN4):c.212C>T (p.Ala71Val)
|
|
|
NM_005477.3(HCN4):c.2137C>T (p.Arg713Cys)
|
rs758371313
|
|
NM_005477.3(HCN4):c.2138G>A (p.Arg713His)
|
|
|
NM_005477.3(HCN4):c.2143+1G>C
|
|
|
NM_005477.3(HCN4):c.2143+5G>A
|
rs547362030
|
|
NM_005477.3(HCN4):c.2143+5G>C
|
|
|
NM_005477.3(HCN4):c.2144-16T>G
|
|
|
NM_005477.3(HCN4):c.2144-17_2144-15del
|
|
|
NM_005477.3(HCN4):c.2147A>G (p.Lys716Arg)
|
|
|
NM_005477.3(HCN4):c.2148GAA[1] (p.Lys717del)
|
|
|
NM_005477.3(HCN4):c.214C>G (p.Leu72Val)
|
|
|
NM_005477.3(HCN4):c.214C>T (p.Leu72Phe)
|
rs2043137832
|
|
NM_005477.3(HCN4):c.2164C>T (p.Leu722Phe)
|
|
|
NM_005477.3(HCN4):c.2185C>G (p.Leu729Val)
|
|
|
NM_005477.3(HCN4):c.2188A>C (p.Asn730His)
|
|
|
NM_005477.3(HCN4):c.220G>A (p.Ala74Thr)
|
|
|
NM_005477.3(HCN4):c.2211G>T (p.Gln737His)
|
|
|
NM_005477.3(HCN4):c.2212G>A (p.Glu738Lys)
|
rs1029680367
|
|
NM_005477.3(HCN4):c.2216A>G (p.Asn739Ser)
|
rs2042881779
|
|
NM_005477.3(HCN4):c.2224A>G (p.Ile742Val)
|
|
|
NM_005477.3(HCN4):c.2236G>A (p.Val746Met)
|
|
|
NM_005477.3(HCN4):c.2243A>G (p.His748Arg)
|
rs750677813
|
|
NM_005477.3(HCN4):c.2248C>T (p.Arg750Trp)
|
|
|
NM_005477.3(HCN4):c.2258C>T (p.Ala753Val)
|
|
|
NM_005477.3(HCN4):c.2269C>T (p.His757Tyr)
|
|
|
NM_005477.3(HCN4):c.2270A>G (p.His757Arg)
|
|
|
NM_005477.3(HCN4):c.2270_2274del (p.His757fs)
|
|
|
NM_005477.3(HCN4):c.2284G>A (p.Ala762Thr)
|
|
|
NM_005477.3(HCN4):c.2288C>A (p.Ala763Asp)
|
rs375146815
|
|
NM_005477.3(HCN4):c.2288C>T (p.Ala763Val)
|
rs375146815
|
|
NM_005477.3(HCN4):c.2296A>G (p.Thr766Ala)
|
|
|
NM_005477.3(HCN4):c.2297C>T (p.Thr766Ile)
|
|
|
NM_005477.3(HCN4):c.22A>G (p.Met8Val)
|
|
|
NM_005477.3(HCN4):c.2305C>T (p.Pro769Ser)
|
|
|
NM_005477.3(HCN4):c.2314G>A (p.Val772Ile)
|
rs776635828
|
|
NM_005477.3(HCN4):c.2314G>C (p.Val772Leu)
|
rs776635828
|
|
NM_005477.3(HCN4):c.2317A>G (p.Ile773Val)
|
rs1173397954
|
|
NM_005477.3(HCN4):c.2330T>G (p.Leu777Arg)
|
|
|
NM_005477.3(HCN4):c.2345T>G (p.Leu782Arg)
|
rs1567769296
|
|
NM_005477.3(HCN4):c.2350G>A (p.Ala784Thr)
|
rs1453283899
|
|
NM_005477.3(HCN4):c.235G>C (p.Gly79Arg)
|
|
|
NM_005477.3(HCN4):c.2381C>A (p.Ala794Asp)
|
|
|
NM_005477.3(HCN4):c.238C>T (p.Pro80Ser)
|
|
|
NM_005477.3(HCN4):c.2394C>G (p.His798Gln)
|
rs2151214754
|
|
NM_005477.3(HCN4):c.2398C>A (p.Arg800Ser)
|
rs181894662
|
|
NM_005477.3(HCN4):c.2399G>T (p.Arg800Leu)
|
rs375180021
|
|
NM_005477.3(HCN4):c.23T>C (p.Met8Thr)
|
rs749801134
|
|
NM_005477.3(HCN4):c.23T>G (p.Met8Arg)
|
rs749801134
|
|
NM_005477.3(HCN4):c.2410G>A (p.Ala804Thr)
|
|
|
NM_005477.3(HCN4):c.2419C>A (p.Arg807Ser)
|
|
|
NM_005477.3(HCN4):c.2425C>T (p.Pro809Ser)
|
|
|
NM_005477.3(HCN4):c.2426C>A (p.Pro809His)
|
|
|
NM_005477.3(HCN4):c.242C>T (p.Ala81Val)
|
|
|
NM_005477.3(HCN4):c.2432G>A (p.Gly811Glu)
|
|
|
NM_005477.3(HCN4):c.2432G>C (p.Gly811Ala)
|
rs776656247
|
|
NM_005477.3(HCN4):c.2432G>T (p.Gly811Val)
|
rs776656247
|
|
NM_005477.3(HCN4):c.2443G>A (p.Gly815Ser)
|
|
|
NM_005477.3(HCN4):c.2453G>A (p.Gly818Asp)
|
|
|
NM_005477.3(HCN4):c.2459G>C (p.Gly820Ala)
|
|
|
NM_005477.3(HCN4):c.245G>C (p.Arg82Pro)
|
|
|
NM_005477.3(HCN4):c.2462A>G (p.Gln821Arg)
|
|
|
NM_005477.3(HCN4):c.2471G>A (p.Arg824Lys)
|
rs2151214699
|
|
NM_005477.3(HCN4):c.247G>C (p.Gly83Arg)
|
rs2043137577
|
|
NM_005477.3(HCN4):c.247G>T (p.Gly83Cys)
|
|
|
NM_005477.3(HCN4):c.2482C>T (p.Arg828Trp)
|
rs1281853703
|
|
NM_005477.3(HCN4):c.2483G>A (p.Arg828Gln)
|
|
|
NM_005477.3(HCN4):c.2483G>T (p.Arg828Leu)
|
|
|
NM_005477.3(HCN4):c.2492C>T (p.Ser831Phe)
|
|
|
NM_005477.3(HCN4):c.2498T>C (p.Ile833Thr)
|
|
|
NM_005477.3(HCN4):c.2500C>A (p.Pro834Thr)
|
|
|
NM_005477.3(HCN4):c.2501C>T (p.Pro834Leu)
|
|
|
NM_005477.3(HCN4):c.2504C>T (p.Ser835Phe)
|
|
|
NM_005477.3(HCN4):c.2507C>G (p.Ala836Gly)
|
|
|
NM_005477.3(HCN4):c.2512G>C (p.Gly838Arg)
|
|
|
NM_005477.3(HCN4):c.2519_2662dup (p.Cys887_Gly888insAlaSerProAlaSerSerProSerGlnValAspThrProSerSerSerSerPheHisIleGlnGlnLeuAlaGlyPheSerAlaProAlaGlyLeuSerProLeuLeuProSerSerSerSerSerProProProGlyAlaCys)
|
|
|
NM_005477.3(HCN4):c.251C>T (p.Ala84Val)
|
rs2151228645
|
|
NM_005477.3(HCN4):c.2524C>T (p.Pro842Ser)
|
rs2151214653
|
|
NM_005477.3(HCN4):c.2530A>G (p.Ser844Gly)
|
|
|
NM_005477.3(HCN4):c.2534G>C (p.Ser845Thr)
|
rs2042878358
|
|
NM_005477.3(HCN4):c.2536C>G (p.Pro846Ala)
|
|
|
NM_005477.3(HCN4):c.254G>T (p.Gly85Val)
|
rs1397898750
|
|
NM_005477.3(HCN4):c.2551A>C (p.Thr851Pro)
|
|
|
NM_005477.3(HCN4):c.2560T>C (p.Ser854Pro)
|
|
|
NM_005477.3(HCN4):c.2561del (p.Ser854fs)
|
|
|
NM_005477.3(HCN4):c.2567C>T (p.Ser856Phe)
|
|
|
NM_005477.3(HCN4):c.256A>T (p.Lys86Ter)
|
|
|
NM_005477.3(HCN4):c.2571C>G (p.Phe857Leu)
|
rs756140673
|
|
NM_005477.3(HCN4):c.2572C>T (p.His858Tyr)
|
|
|
NM_005477.3(HCN4):c.257A>G (p.Lys86Arg)
|
|
|
NM_005477.3(HCN4):c.2587G>T (p.Ala863Ser)
|
rs767354516
|
|
NM_005477.3(HCN4):c.2593_2610del (p.Phe865_Gly870del)
|
|
|
NM_005477.3(HCN4):c.2599G>T (p.Ala867Ser)
|
|
|
NM_005477.3(HCN4):c.2600C>A (p.Ala867Asp)
|
|
|
NM_005477.3(HCN4):c.2603C>T (p.Pro868Leu)
|
|
|
NM_005477.3(HCN4):c.2605G>C (p.Ala869Pro)
|
rs775134377
|
|
NM_005477.3(HCN4):c.260C>G (p.Ser87Cys)
|
rs866449137
|
|
NM_005477.3(HCN4):c.2611C>A (p.Leu871Met)
|
|
|
NM_005477.3(HCN4):c.2615G>A (p.Ser872Asn)
|
rs2042877637
|
|
NM_005477.3(HCN4):c.2616C>G (p.Ser872Arg)
|
rs773525527
|
|
NM_005477.3(HCN4):c.2626C>T (p.Pro876Ser)
|
|
|
NM_005477.3(HCN4):c.2638T>A (p.Ser880Thr)
|
|
|
NM_005477.3(HCN4):c.263G>A (p.Ser88Asn)
|
rs1060500108
|
|
NM_005477.3(HCN4):c.2642C>T (p.Ser881Phe)
|
rs2151214556
|
|
NM_005477.3(HCN4):c.2647C>A (p.Pro883Thr)
|
|
|
NM_005477.3(HCN4):c.2647C>T (p.Pro883Ser)
|
rs780235330
|
|
NM_005477.3(HCN4):c.2650C>A (p.Pro884Thr)
|
rs745819208
|
|
NM_005477.3(HCN4):c.2650C>G (p.Pro884Ala)
|
rs745819208
|
|
NM_005477.3(HCN4):c.2651C>T (p.Pro884Leu)
|
|
|
NM_005477.3(HCN4):c.2652dup (p.Gly885fs)
|
rs2151214541
|
|
NM_005477.3(HCN4):c.2653G>C (p.Gly885Arg)
|
|
|
NM_005477.3(HCN4):c.2662G>A (p.Gly888Ser)
|
|
|
NM_005477.3(HCN4):c.2666C>T (p.Ser889Phe)
|
rs752235823
|
|
NM_005477.3(HCN4):c.2668C>G (p.Pro890Ala)
|
rs184801511
|
|
NM_005477.3(HCN4):c.266C>T (p.Thr89Met)
|
|
|
NM_005477.3(HCN4):c.2675C>T (p.Ala892Val)
|
rs2042876797
|
|
NM_005477.3(HCN4):c.2677C>G (p.Pro893Ala)
|
|
|
NM_005477.3(HCN4):c.2695G>T (p.Val899Leu)
|
|
|
NM_005477.3(HCN4):c.2696T>G (p.Val899Gly)
|
|
|
NM_005477.3(HCN4):c.270C>A (p.Asn90Lys)
|
|
|
NM_005477.3(HCN4):c.2713_2734dup (p.Lys912fs)
|
rs1595819839
|
|
NM_005477.3(HCN4):c.2714C>T (p.Ala905Val)
|
|
|
NM_005477.3(HCN4):c.2716G>C (p.Gly906Arg)
|
|
|
NM_005477.3(HCN4):c.2717G>C (p.Gly906Ala)
|
|
|
NM_005477.3(HCN4):c.271G>A (p.Gly91Ser)
|
|
|
NM_005477.3(HCN4):c.271G>C (p.Gly91Arg)
|
rs746252218
|
|
NM_005477.3(HCN4):c.272G>T (p.Gly91Val)
|
|
|
NM_005477.3(HCN4):c.2731C>T (p.His911Tyr)
|
|
|
NM_005477.3(HCN4):c.2743G>A (p.Gly915Ser)
|
|
|
NM_005477.3(HCN4):c.2744del (p.Gly915fs)
|
|
|
NM_005477.3(HCN4):c.2746G>T (p.Gly916Cys)
|
|
|
NM_005477.3(HCN4):c.274G>A (p.Asp92Asn)
|
rs2151228629
|
|
NM_005477.3(HCN4):c.2755TCC[2] (p.Ser921del)
|
rs1313245625
|
|
NM_005477.3(HCN4):c.2765A>C (p.Asp922Ala)
|
rs2151214442
|
|
NM_005477.3(HCN4):c.2767T>A (p.Ser923Thr)
|
|
|
NM_005477.3(HCN4):c.2773C>G (p.Leu925Val)
|
|
|
NM_005477.3(HCN4):c.2774T>C (p.Leu925Pro)
|
|
|
NM_005477.3(HCN4):c.2774T>G (p.Leu925Arg)
|
rs375712962
|
|
NM_005477.3(HCN4):c.2775_2777del (p.Leu926del)
|
rs766277314
|
|
NM_005477.3(HCN4):c.2782C>G (p.Pro928Ala)
|
rs1482640658
|
|
NM_005477.3(HCN4):c.2788C>T (p.Gln930Ter)
|
rs2042875494
|
|
NM_005477.3(HCN4):c.2789A>G (p.Gln930Arg)
|
|
|
NM_005477.3(HCN4):c.2795G>A (p.Gly932Asp)
|
|
|
NM_005477.3(HCN4):c.2804C>G (p.Ser935Cys)
|
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
NM_005477.3(HCN4):c.2804_2805delinsTA (p.Ser935Leu)
|
rs2151214401
|
|
NM_005477.3(HCN4):c.2809C>T (p.Gln937Ter)
|
rs776757023
|
|
NM_005477.3(HCN4):c.2827C>T (p.Pro943Ser)
|
|
|
NM_005477.3(HCN4):c.2830G>T (p.Ala944Ser)
|
|
|
NM_005477.3(HCN4):c.2839G>T (p.Gly947Trp)
|
|
|
NM_005477.3(HCN4):c.2840G>C (p.Gly947Ala)
|
|
|
NM_005477.3(HCN4):c.2842G>A (p.Ala948Thr)
|
|
|
NM_005477.3(HCN4):c.2842del (p.Ala948fs)
|
rs1275052772
|
|
NM_005477.3(HCN4):c.2846G>C (p.Arg949Pro)
|
rs752139441
|
|
NM_005477.3(HCN4):c.2846G>T (p.Arg949Leu)
|
|
|
NM_005477.3(HCN4):c.2848G>A (p.Gly950Arg)
|
|
|
NM_005477.3(HCN4):c.2851G>C (p.Gly951Arg)
|
|
|
NM_005477.3(HCN4):c.2854_2869del (p.Leu952fs)
|
|
|
NM_005477.3(HCN4):c.2858G>A (p.Gly953Glu)
|
rs1555475226
|
|
NM_005477.3(HCN4):c.2858del (p.Gly953fs)
|
|
|
NM_005477.3(HCN4):c.2863C>T (p.Pro955Ser)
|
|
|
NM_005477.3(HCN4):c.2864C>A (p.Pro955Gln)
|
rs371562763
|
|
NM_005477.3(HCN4):c.2864C>G (p.Pro955Arg)
|
rs371562763
|
|
NM_005477.3(HCN4):c.286_297del (p.Phe96_Ser99del)
|
|
|
NM_005477.3(HCN4):c.2876T>A (p.Leu959Gln)
|
rs2042874508
|
|
NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del)
|
rs750207209
|
|
NM_005477.3(HCN4):c.2879C>A (p.Pro960Gln)
|
rs2042874463
|
|
NM_005477.3(HCN4):c.2881C>T (p.Pro961Ser)
|
|
|
NM_005477.3(HCN4):c.2885C>T (p.Pro962Leu)
|
|
|
NM_005477.3(HCN4):c.2885del (p.Pro962fs)
|
|
|
NM_005477.3(HCN4):c.289C>T (p.Arg97Cys)
|
|
|
NM_005477.3(HCN4):c.2908T>C (p.Ser970Pro)
|
|
|
NM_005477.3(HCN4):c.2909C>T (p.Ser970Phe)
|
|
|
NM_005477.3(HCN4):c.2917G>T (p.Gly973Trp)
|
rs200495478
|
|
NM_005477.3(HCN4):c.2927G>T (p.Gly976Val)
|
|
|
NM_005477.3(HCN4):c.2929C>A (p.Gln977Lys)
|
rs1382370606
|
|
NM_005477.3(HCN4):c.2938G>C (p.Gly980Arg)
|
rs780719805
|
|
NM_005477.3(HCN4):c.2941G>T (p.Glu981Ter)
|
rs1395656450
|
|
NM_005477.3(HCN4):c.2948C>T (p.Ser983Phe)
|
|
|
NM_005477.3(HCN4):c.2950C>G (p.Leu984Val)
|
rs2151214244
|
|
NM_005477.3(HCN4):c.2966G>A (p.Gly989Asp)
|
|
|
NM_005477.3(HCN4):c.2968C>G (p.Pro990Ala)
|
rs2151214239
|
|
NM_005477.3(HCN4):c.2969C>G (p.Pro990Arg)
|
rs755329686
|
|
NM_005477.3(HCN4):c.2969C>T (p.Pro990Leu)
|
|
|
NM_005477.3(HCN4):c.2975G>T (p.Ser992Ile)
|
|
|
NM_005477.3(HCN4):c.297C>G (p.Ser99Arg)
|
|
|
NM_005477.3(HCN4):c.2985G>C (p.Glu995Asp)
|
|
|
NM_005477.3(HCN4):c.2989C>A (p.Pro997Thr)
|
|
|
NM_005477.3(HCN4):c.2996G>A (p.Arg999Gln)
|
|
|
NM_005477.3(HCN4):c.2998C>A (p.Gln1000Lys)
|
rs1417479645
|
|
NM_005477.3(HCN4):c.299T>G (p.Leu100Arg)
|
|
|
NM_005477.3(HCN4):c.3004G>A (p.Glu1002Lys)
|
|
|
NM_005477.3(HCN4):c.3004G>C (p.Glu1002Gln)
|
rs1060500106
|
|
NM_005477.3(HCN4):c.3011del (p.Pro1004fs)
|
rs2151214199
|
|
NM_005477.3(HCN4):c.3014C>G (p.Ser1005Cys)
|
rs780624939
|
|
NM_005477.3(HCN4):c.3014C>T (p.Ser1005Phe)
|
rs780624939
|
|
NM_005477.3(HCN4):c.3017T>C (p.Leu1006Pro)
|
rs1351588410
|
|
NM_005477.3(HCN4):c.3019G>A (p.Val1007Met)
|
rs866060091
|
|
NM_005477.3(HCN4):c.3020T>C (p.Val1007Ala)
|
|
|
NM_005477.3(HCN4):c.3022G>T (p.Ala1008Ser)
|
|
|
NM_005477.3(HCN4):c.3028G>A (p.Ala1010Thr)
|
|
|
NM_005477.3(HCN4):c.3034G>A (p.Gly1012Arg)
|
|
|
NM_005477.3(HCN4):c.3035G>A (p.Gly1012Glu)
|
|
|
NM_005477.3(HCN4):c.3038G>T (p.Gly1013Val)
|
|
|
NM_005477.3(HCN4):c.3041C>G (p.Ala1014Gly)
|
rs1567767635
|
|
NM_005477.3(HCN4):c.3047C>T (p.Pro1016Leu)
|
|
|
NM_005477.3(HCN4):c.3058A>C (p.Thr1020Pro)
|
rs2151214146
|
|
NM_005477.3(HCN4):c.3061C>T (p.Pro1021Ser)
|
|
|
NM_005477.3(HCN4):c.3065G>A (p.Arg1022Gln)
|
rs1205818947
|
|
NM_005477.3(HCN4):c.3066AGG[1] (p.Gly1024del)
|
|
|
NM_005477.3(HCN4):c.3073C>A (p.Leu1025Ile)
|
|
|
NM_005477.3(HCN4):c.3073C>G (p.Leu1025Val)
|
|
|
NM_005477.3(HCN4):c.3077_3078delinsTT (p.Ser1026Ile)
|
|
|
NM_005477.3(HCN4):c.3079C>T (p.Pro1027Ser)
|
|
|
NM_005477.3(HCN4):c.3082C>A (p.Pro1028Thr)
|
|
|
NM_005477.3(HCN4):c.3082C>G (p.Pro1028Ala)
|
|
|
NM_005477.3(HCN4):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_005477.3(HCN4):c.3095C>T (p.Pro1032Leu)
|
|
|
NM_005477.3(HCN4):c.3098G>A (p.Gly1033Asp)
|
|
|
NM_005477.3(HCN4):c.3100C>A (p.Pro1034Thr)
|
rs1158677290
|
|
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)
|
rs1158677290
|
|
NM_005477.3(HCN4):c.3101C>T (p.Pro1034Leu)
|
|
|
NM_005477.3(HCN4):c.3103C>G (p.Pro1035Ala)
|
|
|
NM_005477.3(HCN4):c.3108A>T (p.Arg1036Ser)
|
|
|
NM_005477.3(HCN4):c.310G>A (p.Gly104Ser)
|
rs757662055
|
|
NM_005477.3(HCN4):c.3110C>A (p.Thr1037Asn)
|
|
|
NM_005477.3(HCN4):c.3114C>A (p.Phe1038Leu)
|
|
|
NM_005477.3(HCN4):c.3119G>A (p.Ser1040Asn)
|
|
|
NM_005477.3(HCN4):c.3122C>T (p.Ala1041Val)
|
|
|
NM_005477.3(HCN4):c.3125C>G (p.Pro1042Arg)
|
|
|
NM_005477.3(HCN4):c.3125C>T (p.Pro1042Leu)
|
rs2042871424
|
|
NM_005477.3(HCN4):c.3136T>G (p.Ser1046Ala)
|
|
|
NM_005477.3(HCN4):c.3151T>A (p.Ser1051Thr)
|
|
|
NM_005477.3(HCN4):c.3152C>G (p.Ser1051Cys)
|
rs2151214067
|
|
NM_005477.3(HCN4):c.3157C>T (p.Leu1053Phe)
|
|
|
NM_005477.3(HCN4):c.3158T>C (p.Leu1053Pro)
|
rs2042871166
|
|
NM_005477.3(HCN4):c.3163C>T (p.Pro1055Ser)
|
|
|
NM_005477.3(HCN4):c.316C>T (p.Arg106Trp)
|
rs2151228608
|
|
NM_005477.3(HCN4):c.3170C>T (p.Ala1057Val)
|
|
|
NM_005477.3(HCN4):c.3179C>A (p.Pro1060His)
|
|
|
NM_005477.3(HCN4):c.3179C>G (p.Pro1060Arg)
|
|
|
NM_005477.3(HCN4):c.3179C>T (p.Pro1060Leu)
|
rs764262532
|
|
NM_005477.3(HCN4):c.3182C>A (p.Pro1061Gln)
|
rs1010963303
|
|
NM_005477.3(HCN4):c.3182C>T (p.Pro1061Leu)
|
|
|
NM_005477.3(HCN4):c.3184C>A (p.Pro1062Thr)
|
|
|
NM_005477.3(HCN4):c.3184C>T (p.Pro1062Ser)
|
rs2042870785
|
|
NM_005477.3(HCN4):c.3187C>T (p.Pro1063Ser)
|
|
|
NM_005477.3(HCN4):c.3191A>G (p.Gln1064Arg)
|
|
|
NM_005477.3(HCN4):c.3191_3217del (p.Gln1064_Pro1072del)
|
rs776487863
|
|
NM_005477.3(HCN4):c.3192G>C (p.Gln1064His)
|
rs2042870613
|
|
NM_005477.3(HCN4):c.3193G>A (p.Val1065Ile)
|
rs2042870599
|
|
NM_005477.3(HCN4):c.3194T>C (p.Val1065Ala)
|
|
|
NM_005477.3(HCN4):c.31C>T (p.Arg11Trp)
|
|
|
NM_005477.3(HCN4):c.3202C>A (p.Arg1068Ser)
|
|
|
NM_005477.3(HCN4):c.3203G>C (p.Arg1068Pro)
|
|
|
NM_005477.3(HCN4):c.3205C>G (p.Arg1069Gly)
|
|
|
NM_005477.3(HCN4):c.3206G>T (p.Arg1069Leu)
|
|
|
NM_005477.3(HCN4):c.320G>A (p.Gly107Asp)
|
|
|
NM_005477.3(HCN4):c.320G>C (p.Gly107Ala)
|
rs2043137014
|
|
NM_005477.3(HCN4):c.320del (p.Gly107fs)
|
|
|
NM_005477.3(HCN4):c.3211_3220del (p.Thr1071fs)
|
|
|
NM_005477.3(HCN4):c.3212C>T (p.Thr1071Ile)
|
|
|
NM_005477.3(HCN4):c.3214C>T (p.Pro1072Ser)
|
|
|
NM_005477.3(HCN4):c.3218C>G (p.Pro1073Arg)
|
|
|
NM_005477.3(HCN4):c.3223_3225del (p.Thr1075del)
|
|
|
NM_005477.3(HCN4):c.322G>C (p.Gly108Arg)
|
rs1057524788
|
|
NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg)
|
rs1419820366
|
|
NM_005477.3(HCN4):c.3247C>T (p.Leu1083Phe)
|
rs1474106451
|
|
NM_005477.3(HCN4):c.3247_3258del (p.Leu1083_Ile1086del)
|
|
|
NM_005477.3(HCN4):c.3256A>T (p.Ile1086Phe)
|
|
|
NM_005477.3(HCN4):c.3256_3258dup (p.Ile1086_Ser1087insIle)
|
|
|
NM_005477.3(HCN4):c.3260C>T (p.Ser1087Phe)
|
|
|
NM_005477.3(HCN4):c.3262G>C (p.Ala1088Pro)
|
rs1050326641
|
|
NM_005477.3(HCN4):c.3262G>T (p.Ala1088Ser)
|
|
|
NM_005477.3(HCN4):c.3275C>A (p.Ala1092Asp)
|
|
|
NM_005477.3(HCN4):c.3289G>T (p.Gly1097Trp)
|
|
|
NM_005477.3(HCN4):c.3290G>A (p.Gly1097Glu)
|
|
|
NM_005477.3(HCN4):c.3292G>T (p.Ala1098Ser)
|
|
|
NM_005477.3(HCN4):c.3297G>C (p.Gln1099His)
|
|
|
NM_005477.3(HCN4):c.3299C>T (p.Thr1100Ile)
|
|
|
NM_005477.3(HCN4):c.32G>C (p.Arg11Pro)
|
|
|
NM_005477.3(HCN4):c.3307A>G (p.Arg1103Gly)
|
rs878854774
|
|
NM_005477.3(HCN4):c.3310G>A (p.Ala1104Thr)
|
|
|
NM_005477.3(HCN4):c.3317del (p.Pro1106fs)
|
rs2151213907
|
|
NM_005477.3(HCN4):c.3317dup (p.His1107fs)
|
|
|
NM_005477.3(HCN4):c.3322T>G (p.Ser1108Ala)
|
|
|
NM_005477.3(HCN4):c.3323C>A (p.Ser1108Tyr)
|
|
|
NM_005477.3(HCN4):c.3328G>A (p.Gly1110Arg)
|
rs2151213893
|
|
NM_005477.3(HCN4):c.3338T>C (p.Met1113Thr)
|
|
|
NM_005477.3(HCN4):c.3340G>C (p.Ala1114Pro)
|
rs2151213889
|
|
NM_005477.3(HCN4):c.3349C>G (p.Pro1117Ala)
|
|
|
NM_005477.3(HCN4):c.334_348dup (p.Gly116_Ser117insGlyThrGlySerGly)
|
|
|
NM_005477.3(HCN4):c.3353T>A (p.Leu1118His)
|
|
|
NM_005477.3(HCN4):c.335G>C (p.Gly112Ala)
|
rs1595837506
|
|
NM_005477.3(HCN4):c.3370G>A (p.Gly1124Ser)
|
|
|
NM_005477.3(HCN4):c.3378C>G (p.Ser1126Arg)
|
rs758673317
|
|
NM_005477.3(HCN4):c.3380G>A (p.Gly1127Glu)
|
rs2151213857
|
|
NM_005477.3(HCN4):c.3383G>A (p.Gly1128Asp)
|
|
|
NM_005477.3(HCN4):c.3385_3402del (p.Ser1129_Gly1134del)
|
rs772582176
|
|
NM_005477.3(HCN4):c.3386G>A (p.Ser1129Asn)
|
rs2042868269
|
|
NM_005477.3(HCN4):c.338_352dup (p.Ser117_Ser118insThrGlySerGlySer)
|
|
|
NM_005477.3(HCN4):c.3391A>T (p.Ser1131Cys)
|
|
|
NM_005477.3(HCN4):c.3392G>A (p.Ser1131Asn)
|
|
|
NM_005477.3(HCN4):c.3392G>C (p.Ser1131Thr)
|
|
|
NM_005477.3(HCN4):c.3394_3402dup (p.Ser1132_Gly1134dup)
|
rs1290501532
|
|
NM_005477.3(HCN4):c.3397G>A (p.Gly1133Arg)
|
rs532186403
|
|
NM_005477.3(HCN4):c.3401G>A (p.Gly1134Asp)
|
rs2042868075
|
|
NM_005477.3(HCN4):c.3406G>A (p.Gly1136Ser)
|
rs761421530
|
|
NM_005477.3(HCN4):c.3406G>T (p.Gly1136Cys)
|
|
|
NM_005477.3(HCN4):c.3407G>T (p.Gly1136Val)
|
rs1377027284
|
|
NM_005477.3(HCN4):c.340G>A (p.Gly114Arg)
|
|
|
NM_005477.3(HCN4):c.3413dup (p.Gly1139fs)
|
|
|
NM_005477.3(HCN4):c.3419G>A (p.Arg1140Lys)
|
|
|
NM_005477.3(HCN4):c.341G>A (p.Gly114Glu)
|
|
|
NM_005477.3(HCN4):c.3425A>G (p.Tyr1142Cys)
|
|
|
NM_005477.3(HCN4):c.3426T>G (p.Tyr1142Ter)
|
|
|
NM_005477.3(HCN4):c.3428G>T (p.Gly1143Val)
|
rs1555475094
|
|
NM_005477.3(HCN4):c.3436C>T (p.Pro1146Ser)
|
|
|
NM_005477.3(HCN4):c.3437C>T (p.Pro1146Leu)
|
|
|
NM_005477.3(HCN4):c.3439G>A (p.Gly1147Ser)
|
rs747427482
|
|
NM_005477.3(HCN4):c.3445C>T (p.His1149Tyr)
|
|
|
NM_005477.3(HCN4):c.3446_3447delinsTT (p.His1149Leu)
|
rs2042867595
|
|
NM_005477.3(HCN4):c.344G>A (p.Ser115Asn)
|
|
|
NM_005477.3(HCN4):c.3452C>G (p.Thr1151Ser)
|
|
|
NM_005477.3(HCN4):c.3452C>T (p.Thr1151Ile)
|
rs2042867531
|
|
NM_005477.3(HCN4):c.3454C>G (p.Leu1152Val)
|
|
|
NM_005477.3(HCN4):c.346G>T (p.Gly116Cys)
|
|
|
NM_005477.3(HCN4):c.3470C>T (p.Ser1157Phe)
|
|
|
NM_005477.3(HCN4):c.3482T>G (p.Leu1161Trp)
|
|
|
NM_005477.3(HCN4):c.3488C>A (p.Pro1163His)
|
rs756052150
|
|
NM_005477.3(HCN4):c.3488C>T (p.Pro1163Leu)
|
|
|
NM_005477.3(HCN4):c.3490C>T (p.Pro1164Ser)
|
rs750255859
|
|
NM_005477.3(HCN4):c.3493_3494del (p.Leu1165fs)
|
|
|
NM_005477.3(HCN4):c.3494T>C (p.Leu1165Pro)
|
rs1209424601
|
|
NM_005477.3(HCN4):c.3495_3498del (p.Ser1166fs)
|
rs2151213747
|
|
NM_005477.3(HCN4):c.3497C>G (p.Ser1166Cys)
|
|
|
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs)
|
rs774674047
|
|
NM_005477.3(HCN4):c.3499_3504del (p.Leu1167_Phe1168del)
|
|
|
NM_005477.3(HCN4):c.34C>T (p.Leu12Phe)
|
|
|
NM_005477.3(HCN4):c.3501G>C (p.Leu1167Phe)
|
rs756960444
|
|
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)
|
rs786205259
|
|
NM_005477.3(HCN4):c.3503T>G (p.Phe1168Cys)
|
|
|
NM_005477.3(HCN4):c.3506G>T (p.Gly1169Val)
|
|
|
NM_005477.3(HCN4):c.3512G>A (p.Arg1171Lys)
|
|
|
NM_005477.3(HCN4):c.3526G>T (p.Gly1176Trp)
|
|
|
NM_005477.3(HCN4):c.3527_3540del (p.Gly1176fs)
|
|
|
NM_005477.3(HCN4):c.3529G>A (p.Gly1177Arg)
|
rs2151213719
|
|
NM_005477.3(HCN4):c.3530G>T (p.Gly1177Val)
|
|
|
NM_005477.3(HCN4):c.3531del (p.Pro1179fs)
|
rs749503920
|
|
NM_005477.3(HCN4):c.3532C>T (p.Pro1178Ser)
|
rs1354805701
|
|
NM_005477.3(HCN4):c.3533C>T (p.Pro1178Leu)
|
rs2042866287
|
|
NM_005477.3(HCN4):c.3536C>T (p.Pro1179Leu)
|
|
|
NM_005477.3(HCN4):c.3536dup (p.Leu1180fs)
|
rs1416588482
|
|
NM_005477.3(HCN4):c.3541_3544del (p.Thr1181fs)
|
|
|
NM_005477.3(HCN4):c.3547G>A (p.Gly1183Arg)
|
|
|
NM_005477.3(HCN4):c.3550C>G (p.Pro1184Ala)
|
|
|
NM_005477.3(HCN4):c.3551C>G (p.Pro1184Arg)
|
|
|
NM_005477.3(HCN4):c.3557G>A (p.Arg1186Lys)
|
|
|
NM_005477.3(HCN4):c.3568G>A (p.Ala1190Thr)
|
rs372243234
|
|
NM_005477.3(HCN4):c.3568G>T (p.Ala1190Ser)
|
|
|
NM_005477.3(HCN4):c.3573G>T (p.Arg1191Ser)
|
|
|
NM_005477.3(HCN4):c.3575C>G (p.Pro1192Arg)
|
|
|
NM_005477.3(HCN4):c.3575C>T (p.Pro1192Leu)
|
rs774400171
|
|
NM_005477.3(HCN4):c.3578A>G (p.Glu1193Gly)
|
|
|
NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu)
|
|
|
NM_005477.3(HCN4):c.3586C>A (p.Arg1196Ser)
|
rs780977563
|
|
NM_005477.3(HCN4):c.3586C>G (p.Arg1196Gly)
|
|
|
NM_005477.3(HCN4):c.358G>A (p.Gly120Arg)
|
rs766202352
|
|
NM_005477.3(HCN4):c.3590C>T (p.Ser1197Phe)
|
|
|
NM_005477.3(HCN4):c.3599_3600inv (p.Pro1200Leu)
|
|
|
NM_005477.3(HCN4):c.3602C>T (p.Ser1201Phe)
|
|
|
NM_005477.3(HCN4):c.3608T>C (p.Leu1203Pro)
|
|
|
NM_005477.3(HCN4):c.362A>C (p.His121Pro)
|
rs1370522527
|
|
NM_005477.3(HCN4):c.363C>A (p.His121Gln)
|
|
|
NM_005477.3(HCN4):c.368A>G (p.His123Arg)
|
rs1555479000
|
|
NM_005477.3(HCN4):c.371A>G (p.Asp124Gly)
|
rs2043136534
|
|
NM_005477.3(HCN4):c.374C>T (p.Ser125Phe)
|
|
|
NM_005477.3(HCN4):c.379G>A (p.Glu127Lys)
|
rs1056770175
|
|
NM_005477.3(HCN4):c.380A>T (p.Glu127Val)
|
|
|
NM_005477.3(HCN4):c.385C>T (p.Arg129Trp)
|
|
|
NM_005477.3(HCN4):c.392T>C (p.Leu131Pro)
|
|
|
NM_005477.3(HCN4):c.397G>A (p.Ala133Thr)
|
|
|
NM_005477.3(HCN4):c.398C>T (p.Ala133Val)
|
|
|
NM_005477.3(HCN4):c.403G>A (p.Gly135Ser)
|
rs2151228560
|
|
NM_005477.3(HCN4):c.406G>A (p.Asp136Asn)
|
rs1294780632
|
|
NM_005477.3(HCN4):c.410C>G (p.Ala137Gly)
|
|
|
NM_005477.3(HCN4):c.410C>T (p.Ala137Val)
|
|
|
NM_005477.3(HCN4):c.411_412delinsTC (p.Ser138Pro)
|
|
|
NM_005477.3(HCN4):c.413C>A (p.Ser138Tyr)
|
rs1567801864
|
|
NM_005477.3(HCN4):c.413C>G (p.Ser138Cys)
|
|
|
NM_005477.3(HCN4):c.415C>G (p.Pro139Ala)
|
|
|
NM_005477.3(HCN4):c.415_416delinsAT (p.Pro139Ile)
|
|
|
NM_005477.3(HCN4):c.433C>T (p.Pro145Ser)
|
rs886043525
|
|
NM_005477.3(HCN4):c.436C>T (p.Pro146Ser)
|
|
|
NM_005477.3(HCN4):c.43C>T (p.Leu15Phe)
|
|
|
NM_005477.3(HCN4):c.440G>A (p.Gly147Asp)
|
rs2151228539
|
|
NM_005477.3(HCN4):c.445G>A (p.Ala149Thr)
|
rs531489450
|
|
NM_005477.3(HCN4):c.446C>A (p.Ala149Glu)
|
|
|
NM_005477.3(HCN4):c.446C>T (p.Ala149Val)
|
|
|
NM_005477.3(HCN4):c.448G>A (p.Ala150Thr)
|
|
|
NM_005477.3(HCN4):c.451_489del (p.Glu151_Ala163del)
|
|
|
NM_005477.3(HCN4):c.452A>G (p.Glu151Gly)
|
|
|
NM_005477.3(HCN4):c.454C>G (p.Pro152Ala)
|
rs1392411769
|
|
NM_005477.3(HCN4):c.454C>T (p.Pro152Ser)
|
rs1392411769
|
|
NM_005477.3(HCN4):c.475_492dup (p.Ala159_Ser164dup)
|
rs2151228506
|
|
NM_005477.3(HCN4):c.479A>G (p.Gln160Arg)
|
|
|
NM_005477.3(HCN4):c.47C>T (p.Pro16Leu)
|
rs2043139529
|
|
NM_005477.3(HCN4):c.480G>T (p.Gln160His)
|
|
|
NM_005477.3(HCN4):c.481C>T (p.Pro161Ser)
|
|
|
NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup)
|
rs957058060
|
|
NM_005477.3(HCN4):c.487G>A (p.Ala163Thr)
|
|
|
NM_005477.3(HCN4):c.490_497dup (p.Pro167fs)
|
rs2151228503
|
|
NM_005477.3(HCN4):c.491C>G (p.Ser164Trp)
|
|
|
NM_005477.3(HCN4):c.491C>T (p.Ser164Leu)
|
rs1214785817
|
|
NM_005477.3(HCN4):c.494C>A (p.Pro165Gln)
|
|
|
NM_005477.3(HCN4):c.497C>A (p.Pro166Gln)
|
rs771442346
|
|
NM_005477.3(HCN4):c.498_499delinsTA (p.Pro167Thr)
|
|
|
NM_005477.3(HCN4):c.499C>G (p.Pro167Ala)
|
|
|
NM_005477.3(HCN4):c.512C>A (p.Pro171Gln)
|
|
|
NM_005477.3(HCN4):c.514C>T (p.Pro172Ser)
|
|
|
NM_005477.3(HCN4):c.520C>G (p.Pro174Ala)
|
rs542532555
|
|
NM_005477.3(HCN4):c.524C>T (p.Ala175Val)
|
rs1464305426
|
|
NM_005477.3(HCN4):c.526T>A (p.Ser176Thr)
|
rs2043135514
|
|
NM_005477.3(HCN4):c.526T>G (p.Ser176Ala)
|
|
|
NM_005477.3(HCN4):c.52C>G (p.Gln18Glu)
|
|
|
NM_005477.3(HCN4):c.533C>T (p.Ser178Phe)
|
|
|
NM_005477.3(HCN4):c.53A>C (p.Gln18Pro)
|
|
|
NM_005477.3(HCN4):c.541C>G (p.Gln181Glu)
|
rs2151228471
|
|
NM_005477.3(HCN4):c.542A>T (p.Gln181Leu)
|
|
|
NM_005477.3(HCN4):c.548C>T (p.Ser183Leu)
|
|
|
NM_005477.3(HCN4):c.553G>A (p.Asp185Asn)
|
|
|
NM_005477.3(HCN4):c.556A>C (p.Thr186Pro)
|
|
|
NM_005477.3(HCN4):c.559G>T (p.Ala187Ser)
|
|
|
NM_005477.3(HCN4):c.55G>C (p.Val19Leu)
|
|
|
NM_005477.3(HCN4):c.562A>G (p.Ile188Val)
|
rs762497115
|
|
NM_005477.3(HCN4):c.565A>G (p.Lys189Glu)
|
|
|
NM_005477.3(HCN4):c.566A>G (p.Lys189Arg)
|
|
|
NM_005477.3(HCN4):c.569T>C (p.Val190Ala)
|
|
|
NM_005477.3(HCN4):c.569T>G (p.Val190Gly)
|
|
|
NM_005477.3(HCN4):c.571G>C (p.Glu191Gln)
|
rs2151228445
|
|
NM_005477.3(HCN4):c.572A>G (p.Glu191Gly)
|
|
|
NM_005477.3(HCN4):c.580_581delinsTT (p.Ala194Leu)
|
|
|
NM_005477.3(HCN4):c.590G>C (p.Gly197Ala)
|
rs2151228428
|
|
NM_005477.3(HCN4):c.592G>T (p.Asp198Tyr)
|
|
|
NM_005477.3(HCN4):c.596A>G (p.Gln199Arg)
|
|
|
NM_005477.3(HCN4):c.604C>A (p.Pro202Thr)
|
|
|
NM_005477.3(HCN4):c.605C>A (p.Pro202Gln)
|
|
|
NM_005477.3(HCN4):c.605C>T (p.Pro202Leu)
|
|
|
NM_005477.3(HCN4):c.611C>T (p.Ala204Val)
|
|
|
NM_005477.3(HCN4):c.619C>T (p.Arg207Cys)
|
rs2151228416
|
|
NM_005477.3(HCN4):c.620G>C (p.Arg207Pro)
|
|
|
NM_005477.3(HCN4):c.620G>T (p.Arg207Leu)
|
|
|
NM_005477.3(HCN4):c.629A>G (p.Gln210Arg)
|
|
|
NM_005477.3(HCN4):c.62C>T (p.Ala21Val)
|
|
|
NM_005477.3(HCN4):c.646C>G (p.Arg216Gly)
|
rs912161486
|
|
NM_005477.3(HCN4):c.651G>T (p.Gln217His)
|
rs1323141666
|
|
NM_005477.3(HCN4):c.655G>A (p.Gly219Arg)
|
rs1427997752
|
|
NM_005477.3(HCN4):c.673G>C (p.Gly225Arg)
|
rs767982466
|
|
NM_005477.3(HCN4):c.674G>A (p.Gly225Glu)
|
rs1456642227
|
|
NM_005477.3(HCN4):c.677T>C (p.Val226Ala)
|
rs2151228384
|
|
NM_005477.3(HCN4):c.67G>A (p.Ala23Thr)
|
rs868045953
|
|
NM_005477.3(HCN4):c.681C>G (p.Asn227Lys)
|
|
|
NM_005477.3(HCN4):c.683A>G (p.Lys228Arg)
|
|
|
NM_005477.3(HCN4):c.691C>G (p.Leu231Val)
|
|
|
NM_005477.3(HCN4):c.695G>C (p.Arg232Thr)
|
rs768824090
|
|
NM_005477.3(HCN4):c.699G>A (p.Met233Ile)
|
rs2043134154
|
|
NM_005477.3(HCN4):c.702C>A (p.Phe234Leu)
|
|
|
NM_005477.3(HCN4):c.725G>C (p.Arg242Pro)
|
rs1253627105
|
|
NM_005477.3(HCN4):c.725G>T (p.Arg242Leu)
|
|
|
NM_005477.3(HCN4):c.757T>C (p.Trp253Arg)
|
|
|
NM_005477.3(HCN4):c.766C>T (p.His256Tyr)
|
|
|
NM_005477.3(HCN4):c.76A>G (p.Met26Val)
|
|
|
NM_005477.3(HCN4):c.775A>G (p.Ser259Gly)
|
rs1567801364
|
|
NM_005477.3(HCN4):c.77T>C (p.Met26Thr)
|
|
|
NM_005477.3(HCN4):c.786-3C>A
|
|
|
NM_005477.3(HCN4):c.786-3del
|
|
|
NM_005477.3(HCN4):c.79G>C (p.Asp27His)
|
|
|
NM_005477.3(HCN4):c.829C>G (p.Leu277Val)
|
|
|
NM_005477.3(HCN4):c.82G>A (p.Glu28Lys)
|
rs867068803
|
|
NM_005477.3(HCN4):c.82G>C (p.Glu28Gln)
|
|
|
NM_005477.3(HCN4):c.839T>C (p.Ile280Thr)
|
rs2043018365
|
|
NM_005477.3(HCN4):c.83A>G (p.Glu28Gly)
|
|
|
NM_005477.3(HCN4):c.85G>A (p.Glu29Lys)
|
|
|
NM_005477.3(HCN4):c.881C>G (p.Pro294Arg)
|
rs1216261955
|
|
NM_005477.3(HCN4):c.881C>T (p.Pro294Leu)
|
|
|
NM_005477.3(HCN4):c.886A>G (p.Ile296Val)
|
|
|
NM_005477.3(HCN4):c.88G>C (p.Glu30Gln)
|
rs786205802
|
|
NM_005477.3(HCN4):c.896A>G (p.Asn299Ser)
|
rs1057518303
|
|
NM_005477.3(HCN4):c.8A>G (p.Lys3Arg)
|
rs1267513363
|
|
NM_005477.3(HCN4):c.8A>T (p.Lys3Met)
|
|
|
NM_005477.3(HCN4):c.925G>A (p.Asp309Asn)
|
|
|
NM_005477.3(HCN4):c.929T>G (p.Leu310Trp)
|
|
|
NM_005477.3(HCN4):c.944G>A (p.Arg315His)
|
|
|
NM_005477.3(HCN4):c.946A>T (p.Thr316Ser)
|
rs2043017887
|
|
NM_005477.3(HCN4):c.955G>A (p.Val319Met)
|
rs773269320
|
|
NM_005477.3(HCN4):c.95C>T (p.Ala32Val)
|
|
|
NM_005477.3(HCN4):c.978C>G (p.Ile326Met)
|
|
|
NM_005477.3(HCN4):c.987C>A (p.Asp329Glu)
|
rs1472247877
|
|
NM_005477.3(HCN4):c.988C>T (p.Pro330Ser)
|
rs1555477316
|
|
NM_005477.3(HCN4):c.991C>A (p.Gln331Lys)
|
|
|
NM_006514.4(SCN10A):c.1004A>G (p.Asn335Ser)
|
rs966272776
|
|
NM_006514.4(SCN10A):c.101C>T (p.Thr34Ile)
|
|
|
NM_006514.4(SCN10A):c.1032G>A (p.Trp344Ter)
|
|
|
NM_006514.4(SCN10A):c.1052G>A (p.Arg351His)
|
rs767987787
|
|
NM_006514.4(SCN10A):c.1066G>A (p.Asp356Asn)
|
|
|
NM_006514.4(SCN10A):c.1079G>T (p.Arg360Leu)
|
rs762451403
|
|
NM_006514.4(SCN10A):c.1092+1G>A
|
|
|
NM_006514.4(SCN10A):c.1092+6G>A
|
|
|
NM_006514.4(SCN10A):c.1111A>G (p.Lys371Glu)
|
|
|
NM_006514.4(SCN10A):c.1121T>G (p.Met374Arg)
|
|
|
NM_006514.4(SCN10A):c.1138G>C (p.Val380Leu)
|
rs142276689
|
|
NM_006514.4(SCN10A):c.1162C>A (p.Leu388Met)
|
|
|
NM_006514.4(SCN10A):c.1169A>G (p.Asn390Ser)
|
rs2126028249
|
|
NM_006514.4(SCN10A):c.117G>C (p.Glu39Asp)
|
|
|
NM_006514.4(SCN10A):c.1193T>C (p.Met398Thr)
|
rs978338746
|
|
NM_006514.4(SCN10A):c.120G>T (p.Lys40Asn)
|
rs1553626242
|
|
NM_006514.4(SCN10A):c.1213C>T (p.Gln405Ter)
|
|
|
NM_006514.4(SCN10A):c.125G>A (p.Arg42Lys)
|
|
|
NM_006514.4(SCN10A):c.1270A>T (p.Met424Leu)
|
|
|
NM_006514.4(SCN10A):c.1288G>A (p.Glu430Lys)
|
|
|
NM_006514.4(SCN10A):c.1345C>T (p.Pro449Ser)
|
rs2126027158
|
|
NM_006514.4(SCN10A):c.1348T>G (p.Leu450Val)
|
|
|
NM_006514.4(SCN10A):c.1351A>T (p.Thr451Ser)
|
|
|
NM_006514.4(SCN10A):c.1371G>C (p.Glu457Asp)
|
rs1276989301
|
|
NM_006514.4(SCN10A):c.1377G>T (p.Arg459Ser)
|
|
|
NM_006514.4(SCN10A):c.1387A>C (p.Lys463Gln)
|
rs2126027100
|
|
NM_006514.4(SCN10A):c.13A>T (p.Ile5Phe)
|
rs1156489183
|
|
NM_006514.4(SCN10A):c.1405G>A (p.Gly469Ser)
|
|
|
NM_006514.4(SCN10A):c.1432del (p.Arg478fs)
|
|
|
NM_006514.4(SCN10A):c.1433G>T (p.Arg478Leu)
|
|
|
NM_006514.4(SCN10A):c.1440T>A (p.Asp480Glu)
|
rs2126026998
|
|
NM_006514.4(SCN10A):c.1442C>G (p.Pro481Arg)
|
|
|
NM_006514.4(SCN10A):c.144A>C (p.Glu48Asp)
|
|
|
NM_006514.4(SCN10A):c.1459A>G (p.Met487Val)
|
|
|
NM_006514.4(SCN10A):c.1461+14del
|
|
|
NM_006514.4(SCN10A):c.1462-2A>G
|
|
|
NM_006514.4(SCN10A):c.1472G>T (p.Gly491Val)
|
|
|
NM_006514.4(SCN10A):c.1489C>T (p.Arg497Cys)
|
rs370009920
|
|
NM_006514.4(SCN10A):c.1490G>A (p.Arg497His)
|
|
|
NM_006514.4(SCN10A):c.1492C>G (p.Arg498Gly)
|
rs377467259
|
|
NM_006514.4(SCN10A):c.1493G>C (p.Arg498Pro)
|
rs372716583
|
|
NM_006514.4(SCN10A):c.1499G>C (p.Ser500Thr)
|
|
|
NM_006514.4(SCN10A):c.1519T>C (p.Phe507Leu)
|
rs2063759462
|
|
NM_006514.4(SCN10A):c.151C>A (p.Pro51Thr)
|
rs368312678
|
|
NM_006514.4(SCN10A):c.151C>G (p.Pro51Ala)
|
rs368312678
|
|
NM_006514.4(SCN10A):c.1531G>A (p.Gly511Ser)
|
|
|
NM_006514.4(SCN10A):c.1534C>G (p.Arg512Gly)
|
rs200714519
|
|
NM_006514.4(SCN10A):c.1540A>T (p.Ile514Phe)
|
|
|
NM_006514.4(SCN10A):c.1547T>C (p.Leu516Pro)
|
rs2126023739
|
|
NM_006514.4(SCN10A):c.154C>T (p.Arg52Trp)
|
|
|
NM_006514.4(SCN10A):c.1566T>A (p.Asp522Glu)
|
|
|
NM_006514.4(SCN10A):c.158C>G (p.Pro53Arg)
|
rs752235456
|
|
NM_006514.4(SCN10A):c.158C>T (p.Pro53Leu)
|
|
|
NM_006514.4(SCN10A):c.1618G>A (p.Gly540Ser)
|
|
|
NM_006514.4(SCN10A):c.1621G>A (p.Gly541Arg)
|
rs1315864029
|
|
NM_006514.4(SCN10A):c.1625G>A (p.Gly542Asp)
|
|
|
NM_006514.4(SCN10A):c.1631G>A (p.Gly544Asp)
|
|
|
NM_006514.4(SCN10A):c.1637_1645dup (p.Gln546_Pro548dup)
|
rs2126023600
|
|
NM_006514.4(SCN10A):c.1639G>A (p.Gly547Ser)
|
rs2063756062
|
|
NM_006514.4(SCN10A):c.1645C>G (p.Leu549Val)
|
rs1576001893
|
|
NM_006514.4(SCN10A):c.1651A>G (p.Arg551Gly)
|
|
|
NM_006514.4(SCN10A):c.1653A>T (p.Arg551Ser)
|
|
|
NM_006514.4(SCN10A):c.1660C>A (p.Leu554Ile)
|
rs2126023579
|
|
NM_006514.4(SCN10A):c.1666C>T (p.Gln556Ter)
|
|
|
NM_006514.4(SCN10A):c.1676A>G (p.Asn559Ser)
|
|
|
NM_006514.4(SCN10A):c.1676A>T (p.Asn559Ile)
|
|
|
NM_006514.4(SCN10A):c.169T>G (p.Leu57Val)
|
|
|
NM_006514.4(SCN10A):c.170T>G (p.Leu57Trp)
|
rs2126061797
|
|
NM_006514.4(SCN10A):c.1712C>T (p.Pro571Leu)
|
|
|
NM_006514.4(SCN10A):c.1717C>T (p.Pro573Ser)
|
|
|
NM_006514.4(SCN10A):c.1721C>T (p.Thr574Ile)
|
rs1380478295
|
|
NM_006514.4(SCN10A):c.1723A>G (p.Ser575Gly)
|
|
|
NM_006514.4(SCN10A):c.1729C>A (p.Leu577Ile)
|
|
|
NM_006514.4(SCN10A):c.1733C>A (p.Ala578Asp)
|
|
|
NM_006514.4(SCN10A):c.1733C>T (p.Ala578Val)
|
rs535115766
|
|
NM_006514.4(SCN10A):c.1755G>C (p.Ser585=)
|
|
|
NM_006514.4(SCN10A):c.1816C>T (p.Arg606Trp)
|
|
|
NM_006514.4(SCN10A):c.1817G>A (p.Arg606Gln)
|
rs367548480
|
|
NM_006514.4(SCN10A):c.1819G>A (p.Ala607Thr)
|
rs139355449
|
|
NM_006514.4(SCN10A):c.1819G>T (p.Ala607Ser)
|
rs139355449
|
|
NM_006514.4(SCN10A):c.1820C>A (p.Ala607Asp)
|
|
|
NM_006514.4(SCN10A):c.1827G>T (p.Arg609Ser)
|
|
|
NM_006514.4(SCN10A):c.1850T>C (p.Ile617Thr)
|
rs1333728789
|
|
NM_006514.4(SCN10A):c.1867+5G>C
|
|
|
NM_006514.4(SCN10A):c.1873G>A (p.Glu625Lys)
|
rs2126015263
|
|
NM_006514.4(SCN10A):c.1878G>T (p.Glu626Asp)
|
rs139209095
|
|
NM_006514.4(SCN10A):c.190C>T (p.Pro64Ser)
|
rs2126061757
|
|
NM_006514.4(SCN10A):c.1931T>C (p.Ile644Thr)
|
rs772810661
|
|
NM_006514.4(SCN10A):c.1948A>G (p.Met650Val)
|
rs2126015152
|
|
NM_006514.4(SCN10A):c.1977T>G (p.Phe659Leu)
|
rs1346592471
|
|
NM_006514.4(SCN10A):c.1981C>T (p.Leu661Phe)
|
|
|
NM_006514.4(SCN10A):c.1992T>A (p.Asp664Glu)
|
|
|
NM_006514.4(SCN10A):c.2020T>G (p.Cys674Gly)
|
|
|
NM_006514.4(SCN10A):c.2032A>G (p.Asn678Asp)
|
rs2063642099
|
|
NM_006514.4(SCN10A):c.2046G>A (p.Met682Ile)
|
|
|
NM_006514.4(SCN10A):c.2050A>G (p.Met684Val)
|
rs934256008
|
|
NM_006514.4(SCN10A):c.2052G>A (p.Met684Ile)
|
rs1553619005
|
|
NM_006514.4(SCN10A):c.2062G>A (p.Gly688Ser)
|
rs779931477
|
|
NM_006514.4(SCN10A):c.2066T>C (p.Met689Thr)
|
rs2126014975
|
|
NM_006514.4(SCN10A):c.2090T>A (p.Leu697His)
|
rs2126014930
|
|
NM_006514.4(SCN10A):c.2106+1G>A
|
|
|
NM_006514.4(SCN10A):c.2114C>G (p.Thr705Ser)
|
|
|
NM_006514.4(SCN10A):c.2130T>A (p.Ala710=)
|
rs778052433
|
|
NM_006514.4(SCN10A):c.2134A>G (p.Met712Val)
|
|
|
NM_006514.4(SCN10A):c.2137G>C (p.Val713Leu)
|
rs1490375691
|
|
NM_006514.4(SCN10A):c.2153C>T (p.Ala718Val)
|
|
|
NM_006514.4(SCN10A):c.2161C>T (p.Pro721Ser)
|
rs747114420
|
|
NM_006514.4(SCN10A):c.2162C>T (p.Pro721Leu)
|
|
|
NM_006514.4(SCN10A):c.2186G>A (p.Trp729Ter)
|
rs2126012533
|
|
NM_006514.4(SCN10A):c.2208C>G (p.Ile736Met)
|
|
|
NM_006514.4(SCN10A):c.2240C>T (p.Ala747Val)
|
rs2063607705
|
|
NM_006514.4(SCN10A):c.2248G>C (p.Gly750Arg)
|
rs773267272
|
|
NM_006514.4(SCN10A):c.224T>C (p.Ile75Thr)
|
rs1200209497
|
|
NM_006514.4(SCN10A):c.226G>A (p.Gly76Arg)
|
|
|
NM_006514.4(SCN10A):c.2275C>T (p.Arg759Cys)
|
rs745659019
|
|
NM_006514.4(SCN10A):c.2276G>A (p.Arg759His)
|
|
|
NM_006514.4(SCN10A):c.2284C>A (p.Arg762Ser)
|
rs577819850
|
|
NM_006514.4(SCN10A):c.2311C>G (p.Pro771Ala)
|
rs2063486138
|
|
NM_006514.4(SCN10A):c.2312C>T (p.Pro771Leu)
|
rs758157003
|
|
NM_006514.4(SCN10A):c.232C>G (p.Pro78Ala)
|
|
|
NM_006514.4(SCN10A):c.2350G>A (p.Val784Met)
|
|
|
NM_006514.4(SCN10A):c.2372C>G (p.Thr791Ser)
|
rs1303166399
|
|
NM_006514.4(SCN10A):c.2390T>C (p.Ile797Thr)
|
|
|
NM_006514.4(SCN10A):c.2414G>A (p.Gly805Asp)
|
rs779733116
|
|
NM_006514.4(SCN10A):c.243T>A (p.Asp81Glu)
|
rs1060501717
|
|
NM_006514.4(SCN10A):c.2442dup (p.Asn815Ter)
|
rs1447743812
|
|
NM_006514.4(SCN10A):c.2443A>G (p.Asn815Asp)
|
rs148748248
|
|
NM_006514.4(SCN10A):c.2445C>A (p.Asn815Lys)
|
|
|
NM_006514.4(SCN10A):c.2476G>T (p.Asp826Tyr)
|
rs199535863
|
|
NM_006514.4(SCN10A):c.2482C>T (p.Pro828Ser)
|
rs939348732
|
|
NM_006514.4(SCN10A):c.2504T>A (p.Phe835Tyr)
|
rs2063482693
|
|
NM_006514.4(SCN10A):c.2516T>C (p.Phe839Ser)
|
rs1184583877
|
|
NM_006514.4(SCN10A):c.2524G>A (p.Val842Ile)
|
|
|
NM_006514.4(SCN10A):c.2531G>A (p.Arg844His)
|
|
|
NM_006514.4(SCN10A):c.2566G>A (p.Ala856Thr)
|
|
|
NM_006514.4(SCN10A):c.2577A>C (p.Glu859Asp)
|
rs2063481465
|
|
NM_006514.4(SCN10A):c.2578G>A (p.Val860Ile)
|
rs747984594
|
|
NM_006514.4(SCN10A):c.2578G>T (p.Val860Phe)
|
|
|
NM_006514.4(SCN10A):c.2593A>G (p.Ile865Val)
|
rs1553617020
|
|
NM_006514.4(SCN10A):c.2638G>A (p.Val880Met)
|
rs2126002831
|
|
NM_006514.4(SCN10A):c.263C>T (p.Thr88Ile)
|
rs1226072923
|
|
NM_006514.4(SCN10A):c.2644C>G (p.Leu882Val)
|
rs2063465316
|
|
NM_006514.4(SCN10A):c.2648A>G (p.Asn883Ser)
|
|
|
NM_006514.4(SCN10A):c.2650C>G (p.Leu884Val)
|
|
|
NM_006514.4(SCN10A):c.2656A>G (p.Ile886Val)
|
rs2063465062
|
|
NM_006514.4(SCN10A):c.2680_2681insTTATACTCTAAGTTTTAGGGTACAT (p.Ser894delinsIleIleLeuTer)
|
|
|
NM_006514.4(SCN10A):c.2680_2681insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAAACCTTTTCAGCTCCTTATTTTTTAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATCA (p.Ser894delinsIlePhePhePhePhePhePheXaaXaaXaaXaaAsnLeuPheSerSerLeuPhePheAsnLeuPhePhePhePhePhePhePhePhePheLeuLeuTyrSerLysPheTer)
|
|
|
NM_006514.4(SCN10A):c.270+2T>C
|
|
|
NM_006514.4(SCN10A):c.2763_2764delinsTG (p.His922Asp)
|
rs2063463158
|
|
NM_006514.4(SCN10A):c.2768G>A (p.Arg923His)
|
rs759458296
|
|
NM_006514.4(SCN10A):c.2768G>C (p.Arg923Pro)
|
rs759458296
|
|
NM_006514.4(SCN10A):c.2779G>T (p.Ala927Ser)
|
rs774405519
|
|
NM_006514.4(SCN10A):c.2818C>A (p.Gln940Lys)
|
|
|
NM_006514.4(SCN10A):c.2830G>A (p.Glu944Lys)
|
|
|
NM_006514.4(SCN10A):c.2832G>T (p.Glu944Asp)
|
|
|
NM_006514.4(SCN10A):c.2842G>A (p.Val948Met)
|
rs145694222
|
|
NM_006514.4(SCN10A):c.2850A>T (p.Lys950Asn)
|
rs7374804
|
|
NM_006514.4(SCN10A):c.2854C>G (p.Pro952Ala)
|
rs370880796
|
|
NM_006514.4(SCN10A):c.2855C>T (p.Pro952Leu)
|
rs774315933
|
|
NM_006514.4(SCN10A):c.2863A>T (p.Ser955Cys)
|
rs1674245596
|
|
NM_006514.4(SCN10A):c.2902del (p.Arg968fs)
|
rs1553616744
|
|
NM_006514.4(SCN10A):c.2917G>A (p.Gly973Arg)
|
|
|
NM_006514.4(SCN10A):c.292G>A (p.Gly98Arg)
|
|
|
NM_006514.4(SCN10A):c.294dup (p.Arg99fs)
|
|
|
NM_006514.4(SCN10A):c.3002_3005del (p.Glu1001fs)
|
rs2126001175
|
|
NM_006514.4(SCN10A):c.3016C>G (p.Leu1006Val)
|
rs963394464
|
|
NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)
|
|
|
NM_006514.4(SCN10A):c.3038G>A (p.Gly1013Asp)
|
rs1228092020
|
|
NM_006514.4(SCN10A):c.3041G>A (p.Gly1014Glu)
|
|
|
NM_006514.4(SCN10A):c.3056G>A (p.Ser1019Asn)
|
|
|
NM_006514.4(SCN10A):c.305C>G (p.Ser102Cys)
|
rs866597161
|
|
NM_006514.4(SCN10A):c.3077C>T (p.Pro1026Leu)
|
rs2063457731
|
|
NM_006514.4(SCN10A):c.3088-4C>G
|
|
|
NM_006514.4(SCN10A):c.3095del (p.Gln1032fs)
|
|
|
NM_006514.4(SCN10A):c.3098T>A (p.Leu1033Gln)
|
rs751664345
|
|
NM_006514.4(SCN10A):c.3116G>A (p.Cys1039Tyr)
|
rs765623505
|
|
NM_006514.4(SCN10A):c.3116G>T (p.Cys1039Phe)
|
|
|
NM_006514.4(SCN10A):c.3134C>G (p.Pro1045Arg)
|
rs2126000012
|
|
NM_006514.4(SCN10A):c.3140G>A (p.Ser1047Asn)
|
|
|
NM_006514.4(SCN10A):c.3140G>C (p.Ser1047Thr)
|
rs771555935
|
|
NM_006514.4(SCN10A):c.3170T>G (p.Leu1057Arg)
|
rs1559424975
|
|
NM_006514.4(SCN10A):c.3176C>T (p.Pro1059Leu)
|
|
|
NM_006514.4(SCN10A):c.31A>G (p.Asn11Asp)
|
rs2126062026
|
|
NM_006514.4(SCN10A):c.3201T>A (p.Asp1067Glu)
|
|
|
NM_006514.4(SCN10A):c.3228+11C>A
|
|
|
NM_006514.4(SCN10A):c.3228+6T>A
|
rs748066260
|
|
NM_006514.4(SCN10A):c.3230G>A (p.Gly1077Glu)
|
rs1309415508
|
|
NM_006514.4(SCN10A):c.3233T>C (p.Val1078Ala)
|
|
|
NM_006514.4(SCN10A):c.3237C>A (p.Asp1079Glu)
|
rs745921364
|
|
NM_006514.4(SCN10A):c.3256G>T (p.Gly1086Cys)
|
rs755448967
|
|
NM_006514.4(SCN10A):c.3299A>G (p.Lys1100Arg)
|
rs928529158
|
|
NM_006514.4(SCN10A):c.3347C>T (p.Thr1116Ile)
|
rs778116360
|
|
NM_006514.4(SCN10A):c.3355T>A (p.Cys1119Ser)
|
rs1450059546
|
|
NM_006514.4(SCN10A):c.3358A>C (p.Ile1120Leu)
|
|
|
NM_006514.4(SCN10A):c.3361C>T (p.Arg1121Cys)
|
rs146965005
|
|
NM_006514.4(SCN10A):c.3362G>A (p.Arg1121His)
|
|
|
NM_006514.4(SCN10A):c.337T>C (p.Phe113Leu)
|
|
|
NM_006514.4(SCN10A):c.3386A>C (p.Asp1129Ala)
|
rs1274496159
|
|
NM_006514.4(SCN10A):c.3413G>C (p.Gly1138Ala)
|
|
|
NM_006514.4(SCN10A):c.344C>T (p.Pro115Leu)
|
rs760579685
|
|
NM_006514.4(SCN10A):c.3481A>G (p.Met1161Val)
|
|
|
NM_006514.4(SCN10A):c.351C>A (p.Asn117Lys)
|
|
|
NM_006514.4(SCN10A):c.3521_3522delinsTA (p.Tyr1174Leu)
|
|
|
NM_006514.4(SCN10A):c.352C>A (p.Leu118Met)
|
|
|
NM_006514.4(SCN10A):c.3563A>T (p.Tyr1188Phe)
|
rs549879065
|
|
NM_006514.4(SCN10A):c.364A>G (p.Thr122Ala)
|
|
|
NM_006514.4(SCN10A):c.365C>A (p.Thr122Lys)
|
|
|
NM_006514.4(SCN10A):c.3664G>C (p.Asp1222His)
|
rs759804091
|
|
NM_006514.4(SCN10A):c.3666C>A (p.Asp1222Glu)
|
rs774519441
|
|
NM_006514.4(SCN10A):c.3691A>G (p.Ile1231Val)
|
rs775185585
|
|
NM_006514.4(SCN10A):c.3703G>A (p.Ala1235Thr)
|
|
|
NM_006514.4(SCN10A):c.3704C>A (p.Ala1235Glu)
|
rs765984332
|
|
NM_006514.4(SCN10A):c.3735_3804+243del
|
rs2125990836
|
|
NM_006514.4(SCN10A):c.3746T>C (p.Leu1249Pro)
|
rs2125991146
|
|
NM_006514.4(SCN10A):c.3757C>T (p.Arg1253Cys)
|
rs145909172
|
|
NM_006514.4(SCN10A):c.376G>A (p.Val126Met)
|
rs1553625946
|
|
NM_006514.4(SCN10A):c.3775C>T (p.Arg1259Trp)
|
rs765230695
|
|
NM_006514.4(SCN10A):c.3787C>T (p.Arg1263Ter)
|
|
|
NM_006514.4(SCN10A):c.3788G>T (p.Arg1263Leu)
|
|
|
NM_006514.4(SCN10A):c.3788del (p.Arg1263fs)
|
|
|
NM_006514.4(SCN10A):c.3800T>G (p.Met1267Arg)
|
rs774337248
|
|
NM_006514.4(SCN10A):c.3804+3A>C
|
|
|
NM_006514.4(SCN10A):c.3811G>A (p.Val1271Met)
|
|
|
NM_006514.4(SCN10A):c.3820C>G (p.Leu1274Val)
|
rs1362890643
|
|
NM_006514.4(SCN10A):c.3844A>G (p.Met1282Val)
|
|
|
NM_006514.4(SCN10A):c.3844A>T (p.Met1282Leu)
|
rs1006794198
|
|
NM_006514.4(SCN10A):c.3859G>T (p.Val1287Phe)
|
rs145032037
|
|
NM_006514.4(SCN10A):c.3884T>C (p.Phe1295Ser)
|
|
|
NM_006514.4(SCN10A):c.3884del (p.Phe1295fs)
|
rs2063284404
|
|
NM_006514.4(SCN10A):c.3893T>C (p.Met1298Thr)
|
|
|
NM_006514.4(SCN10A):c.3896G>T (p.Gly1299Val)
|
rs2125989927
|
|
NM_006514.4(SCN10A):c.3904C>G (p.Leu1302Val)
|
rs2063284029
|
|
NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr)
|
rs142173735
|
|
NM_006514.4(SCN10A):c.3958C>T (p.Leu1320Phe)
|
rs373466551
|
|
NM_006514.4(SCN10A):c.3964C>G (p.Pro1322Ala)
|
|
|
NM_006514.4(SCN10A):c.397A>G (p.Ser133Gly)
|
|
|
NM_006514.4(SCN10A):c.3983A>C (p.Asn1328Thr)
|
rs958426415
|
|
NM_006514.4(SCN10A):c.3988T>A (p.Ser1330Thr)
|
rs1372622252
|
|
NM_006514.4(SCN10A):c.3991G>A (p.Asp1331Asn)
|
rs1559415879
|
|
NM_006514.4(SCN10A):c.399T>A (p.Ser133Arg)
|
|
|
NM_006514.4(SCN10A):c.401T>G (p.Leu134Ter)
|
rs1006768253
|
|
NM_006514.4(SCN10A):c.4030G>A (p.Val1344Ile)
|
rs752648254
|
|
NM_006514.4(SCN10A):c.4048T>C (p.Phe1350Leu)
|
|
|
NM_006514.4(SCN10A):c.4087G>A (p.Val1363Met)
|
|
|
NM_006514.4(SCN10A):c.4089+1G>A
|
rs778498254
|
|
NM_006514.4(SCN10A):c.4089+2T>C
|
rs1553614805
|
|
NM_006514.4(SCN10A):c.4091C>T (p.Ala1364Val)
|
rs2125988853
|
|
NM_006514.4(SCN10A):c.4093A>G (p.Thr1365Ala)
|
rs1350489552
|
|
NM_006514.4(SCN10A):c.4094C>A (p.Thr1365Asn)
|
rs748854017
|
|
NM_006514.4(SCN10A):c.4096T>G (p.Phe1366Val)
|
|
|
NM_006514.4(SCN10A):c.4100_4101del (p.Lys1367fs)
|
rs1369457221
|
|
NM_006514.4(SCN10A):c.4106G>T (p.Trp1369Leu)
|
rs2063266357
|
|
NM_006514.4(SCN10A):c.4121A>C (p.Tyr1374Ser)
|
rs1160216765
|
|
NM_006514.4(SCN10A):c.4124C>T (p.Ala1375Val)
|
|
|
NM_006514.4(SCN10A):c.4143+3G>A
|
rs1219287348
|
|
NM_006514.4(SCN10A):c.4143+6T>A
|
|
|
NM_006514.4(SCN10A):c.4144-3C>A
|
|
|
NM_006514.4(SCN10A):c.4150A>G (p.Met1384Val)
|
rs1559414230
|
|
NM_006514.4(SCN10A):c.4172A>G (p.Asn1391Ser)
|
rs767699386
|
|
NM_006514.4(SCN10A):c.4201T>C (p.Phe1401Leu)
|
rs572843309
|
|
NM_006514.4(SCN10A):c.4205T>C (p.Ile1402Thr)
|
|
|
NM_006514.4(SCN10A):c.4217G>C (p.Gly1406Ala)
|
|
|
NM_006514.4(SCN10A):c.4221C>A (p.Phe1407Leu)
|
rs1060501715
|
|
NM_006514.4(SCN10A):c.4232A>C (p.Asn1411Thr)
|
rs769359391
|
|
NM_006514.4(SCN10A):c.4265A>G (p.Asn1422Ser)
|
|
|
NM_006514.4(SCN10A):c.4270C>T (p.Gln1424Ter)
|
rs1027297455
|
|
NM_006514.4(SCN10A):c.4307C>G (p.Thr1436Arg)
|
rs1278000627
|
|
NM_006514.4(SCN10A):c.4312G>A (p.Glu1438Lys)
|
|
|
NM_006514.4(SCN10A):c.431G>A (p.Cys144Tyr)
|
|
|
NM_006514.4(SCN10A):c.4342A>T (p.Lys1448Ter)
|
rs1420782164
|
|
NM_006514.4(SCN10A):c.4379G>C (p.Arg1460Pro)
|
rs369399424
|
|
NM_006514.4(SCN10A):c.4382C>A (p.Pro1461His)
|
rs2125986146
|
|
NM_006514.4(SCN10A):c.4384del (p.Pro1461_Leu1462insTer)
|
rs2063220383
|
|
NM_006514.4(SCN10A):c.4386G>A (p.Leu1462=)
|
rs1306366227
|
|
NM_006514.4(SCN10A):c.4397A>G (p.Gln1466Arg)
|
|
|
NM_006514.4(SCN10A):c.439A>G (p.Met147Val)
|
|
|
NM_006514.4(SCN10A):c.4405G>C (p.Val1469Leu)
|
rs532793715
|
|
NM_006514.4(SCN10A):c.4415T>C (p.Ile1472Thr)
|
rs1286314604
|
|
NM_006514.4(SCN10A):c.4421C>A (p.Thr1474Asn)
|
rs1559409413
|
|
NM_006514.4(SCN10A):c.4446C>G (p.Ile1482Met)
|
|
|
NM_006514.4(SCN10A):c.445C>G (p.Arg149Gly)
|
rs745868315
|
|
NM_006514.4(SCN10A):c.4468A>G (p.Met1490Val)
|
rs1199205585
|
|
NM_006514.4(SCN10A):c.4475C>G (p.Thr1492Ser)
|
rs2125982925
|
|
NM_006514.4(SCN10A):c.4502G>A (p.Ser1501Asn)
|
rs2063161330
|
|
NM_006514.4(SCN10A):c.451G>C (p.Asp151His)
|
|
|
NM_006514.4(SCN10A):c.4540T>A (p.Phe1514Ile)
|
rs776552739
|
|
NM_006514.4(SCN10A):c.4555T>C (p.Phe1519Leu)
|
rs2063160638
|
|
NM_006514.4(SCN10A):c.4559C>T (p.Thr1520Ile)
|
|
|
NM_006514.4(SCN10A):c.4562G>A (p.Gly1521Asp)
|
|
|
NM_006514.4(SCN10A):c.4564G>A (p.Glu1522Lys)
|
|
|
NM_006514.4(SCN10A):c.4570G>A (p.Val1524Ile)
|
|
|
NM_006514.4(SCN10A):c.4574T>C (p.Met1525Thr)
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|
|
NM_006514.4(SCN10A):c.4585G>T (p.Ala1529Ser)
|
rs757916036
|
|
NM_006514.4(SCN10A):c.4602C>A (p.Tyr1534Ter)
|
|
|
NM_006514.4(SCN10A):c.4622T>C (p.Val1541Ala)
|
|
|
NM_006514.4(SCN10A):c.4669dup (p.Ser1557fs)
|
|
|
NM_006514.4(SCN10A):c.4672G>A (p.Ala1558Thr)
|
rs1559407312
|
|
NM_006514.4(SCN10A):c.4675A>G (p.Ile1559Val)
|
rs369399641
|
|
NM_006514.4(SCN10A):c.4684T>A (p.Ser1562Thr)
|
|
|
NM_006514.4(SCN10A):c.470+3G>C
|
|
|
NM_006514.4(SCN10A):c.4708A>G (p.Thr1570Ala)
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|
|
NM_006514.4(SCN10A):c.4709C>A (p.Thr1570Lys)
|
rs772484960
|
|
NM_006514.4(SCN10A):c.471-3C>G
|
|
|
NM_006514.4(SCN10A):c.4720G>A (p.Val1574Ile)
|
rs1293275271
|
|
NM_006514.4(SCN10A):c.4723A>G (p.Ile1575Val)
|
|
|
NM_006514.4(SCN10A):c.4745G>A (p.Arg1582His)
|
rs759164988
|
|
NM_006514.4(SCN10A):c.4747A>C (p.Ile1583Leu)
|
rs2125980496
|
|
NM_006514.4(SCN10A):c.4756C>A (p.Leu1586Met)
|
rs2125980484
|
|
NM_006514.4(SCN10A):c.4766C>A (p.Ala1589Glu)
|
rs753004431
|
|
NM_006514.4(SCN10A):c.4771A>C (p.Lys1591Gln)
|
|
|
NM_006514.4(SCN10A):c.4775_4776dup (p.Ile1593fs)
|
rs1191414961
|
|
NM_006514.4(SCN10A):c.4781G>A (p.Arg1594His)
|
|
|
NM_006514.4(SCN10A):c.4787T>A (p.Leu1596Gln)
|
|
|
NM_006514.4(SCN10A):c.4796C>T (p.Ala1599Val)
|
|
|
NM_006514.4(SCN10A):c.4798C>T (p.Leu1600Phe)
|
|
|
NM_006514.4(SCN10A):c.4803G>A (p.Met1601Ile)
|
|
|
NM_006514.4(SCN10A):c.4852A>C (p.Met1618Leu)
|
rs1575917442
|
|
NM_006514.4(SCN10A):c.4858A>G (p.Ile1620Val)
|
|
|
NM_006514.4(SCN10A):c.485T>G (p.Val162Gly)
|
rs2126041064
|
|
NM_006514.4(SCN10A):c.4866_4867delinsCG (p.Ile1623Val)
|
rs1575917354
|
|
NM_006514.4(SCN10A):c.4873_4878delinsATCTACTCCA (p.Gly1625fs)
|
rs1553613078
|
|
NM_006514.4(SCN10A):c.4899G>C (p.Arg1633Ser)
|
|
|
NM_006514.4(SCN10A):c.4902G>A (p.Trp1634Ter)
|
rs2125980207
|
|
NM_006514.4(SCN10A):c.4922T>C (p.Met1641Thr)
|
|
|
NM_006514.4(SCN10A):c.4923_4924del (p.Met1641fs)
|
rs774186159
|
|
NM_006514.4(SCN10A):c.4937C>A (p.Thr1646Asn)
|
rs2063118515
|
|
NM_006514.4(SCN10A):c.4954C>G (p.Leu1652Val)
|
rs1341990928
|
|
NM_006514.4(SCN10A):c.49A>G (p.Thr17Ala)
|
|
|
NM_006514.4(SCN10A):c.5016del (p.Asn1672fs)
|
rs2125980037
|
|
NM_006514.4(SCN10A):c.501A>G (p.Glu167=)
|
|
|
NM_006514.4(SCN10A):c.5028dup (p.Tyr1677fs)
|
rs748973626
|
|
NM_006514.4(SCN10A):c.5037C>A (p.Asp1679Glu)
|
rs1575916731
|
|
NM_006514.4(SCN10A):c.503C>G (p.Ala168Gly)
|
|
|
NM_006514.4(SCN10A):c.503C>T (p.Ala168Val)
|
rs558639346
|
|
NM_006514.4(SCN10A):c.5052C>G (p.Asn1684Lys)
|
|
|
NM_006514.4(SCN10A):c.5065A>G (p.Arg1689Gly)
|
rs767267531
|
|
NM_006514.4(SCN10A):c.5097C>G (p.Ile1699Met)
|
|
|
NM_006514.4(SCN10A):c.5105T>C (p.Phe1702Ser)
|
|
|
NM_006514.4(SCN10A):c.5116A>G (p.Ile1706Val)
|
rs968515082
|
|
NM_006514.4(SCN10A):c.5131C>T (p.Leu1711Phe)
|
rs2063114690
|
|
NM_006514.4(SCN10A):c.5140G>A (p.Val1714Ile)
|
rs1553612991
|
|
NM_006514.4(SCN10A):c.5144A>G (p.Asn1715Ser)
|
rs777258179
|
|
NM_006514.4(SCN10A):c.5156C>T (p.Ala1719Val)
|
|
|
NM_006514.4(SCN10A):c.5178T>G (p.Asn1726Lys)
|
rs767177596
|
|
NM_006514.4(SCN10A):c.5186C>A (p.Thr1729Lys)
|
|
|
NM_006514.4(SCN10A):c.5203C>T (p.Pro1735Ser)
|
rs1325931730
|
|
NM_006514.4(SCN10A):c.5209A>G (p.Ser1737Gly)
|
rs2063113172
|
|
NM_006514.4(SCN10A):c.5216_5217delinsTT (p.Asp1739Val)
|
rs1575916146
|
|
NM_006514.4(SCN10A):c.5218G>A (p.Asp1740Asn)
|
rs1445722582
|
|
NM_006514.4(SCN10A):c.5256C>A (p.Asp1752Glu)
|
rs138532656
|
|
NM_006514.4(SCN10A):c.5264C>G (p.Ala1755Gly)
|
rs552795944
|
|
NM_006514.4(SCN10A):c.5275A>G (p.Ile1759Val)
|
rs1226335596
|
|
NM_006514.4(SCN10A):c.5284T>G (p.Ser1762Ala)
|
|
|
NM_006514.4(SCN10A):c.5291T>C (p.Leu1764Pro)
|
|
|
NM_006514.4(SCN10A):c.52C>T (p.Pro18Ser)
|
|
|
NM_006514.4(SCN10A):c.5308_5313del (p.Thr1770_Leu1771del)
|
rs769329264
|
|
NM_006514.4(SCN10A):c.5313_5316del (p.Ser1772fs)
|
|
|
NM_006514.4(SCN10A):c.5342A>G (p.Asn1781Ser)
|
rs372368062
|
|
NM_006514.4(SCN10A):c.536del (p.Leu179fs)
|
|
|
NM_006514.4(SCN10A):c.5396A>G (p.His1799Arg)
|
rs2125979327
|
|
NM_006514.4(SCN10A):c.5426A>G (p.Lys1809Arg)
|
|
|
NM_006514.4(SCN10A):c.542A>C (p.Glu181Ala)
|
rs142203439
|
|
NM_006514.4(SCN10A):c.542A>G (p.Glu181Gly)
|
|
|
NM_006514.4(SCN10A):c.5440G>T (p.Glu1814Ter)
|
rs1559405898
|
|
NM_006514.4(SCN10A):c.544T>A (p.Phe182Ile)
|
rs1553623225
|
|
NM_006514.4(SCN10A):c.544T>C (p.Phe182Leu)
|
rs1553623225
|
|
NM_006514.4(SCN10A):c.5459C>T (p.Ser1820Phe)
|
rs2063107708
|
|
NM_006514.4(SCN10A):c.5476GAG[1] (p.Glu1827del)
|
rs772082757
|
|
NM_006514.4(SCN10A):c.5479G>A (p.Glu1827Lys)
|
rs757155232
|
|
NM_006514.4(SCN10A):c.5488A>G (p.Met1830Val)
|
rs1253727199
|
|
NM_006514.4(SCN10A):c.5536C>A (p.Leu1846Ile)
|
rs1001583386
|
|
NM_006514.4(SCN10A):c.5548C>G (p.Gln1850Glu)
|
rs149504103
|
|
NM_006514.4(SCN10A):c.5551G>A (p.Glu1851Lys)
|
|
|
NM_006514.4(SCN10A):c.5594A>G (p.Tyr1865Cys)
|
rs377518708
|
|
NM_006514.4(SCN10A):c.559G>A (p.Asp187Asn)
|
|
|
NM_006514.4(SCN10A):c.5605C>G (p.Arg1869Gly)
|
|
|
NM_006514.4(SCN10A):c.5617C>T (p.Leu1873Phe)
|
|
|
NM_006514.4(SCN10A):c.562C>T (p.Pro188Ser)
|
|
|
NM_006514.4(SCN10A):c.5633G>A (p.Cys1878Tyr)
|
|
|
NM_006514.4(SCN10A):c.5636T>G (p.Val1879Gly)
|
|
|
NM_006514.4(SCN10A):c.5656G>A (p.Ala1886Thr)
|
rs148979438
|
|
NM_006514.4(SCN10A):c.5662T>A (p.Ser1888Thr)
|
rs2063103746
|
|
NM_006514.4(SCN10A):c.5671G>T (p.Asp1891Tyr)
|
rs2063103684
|
|
NM_006514.4(SCN10A):c.5698A>G (p.Asn1900Asp)
|
rs1265687114
|
|
NM_006514.4(SCN10A):c.5699A>G (p.Asn1900Ser)
|
|
|
NM_006514.4(SCN10A):c.5705A>C (p.Asn1902Thr)
|
rs756547221
|
|
NM_006514.4(SCN10A):c.570C>A (p.Asn190Lys)
|
rs766854459
|
|
NM_006514.4(SCN10A):c.5724A>T (p.Lys1908Asn)
|
rs555184897
|
|
NM_006514.4(SCN10A):c.5729A>C (p.Glu1910Ala)
|
|
|
NM_006514.4(SCN10A):c.5734G>T (p.Ala1912Ser)
|
|
|
NM_006514.4(SCN10A):c.574C>A (p.Leu192Met)
|
|
|
NM_006514.4(SCN10A):c.5762A>T (p.Tyr1921Phe)
|
rs778955408
|
|
NM_006514.4(SCN10A):c.576G>A (p.Leu192=)
|
|
|
NM_006514.4(SCN10A):c.5788G>A (p.Asp1930Asn)
|
|
|
NM_006514.4(SCN10A):c.5791dup (p.Arg1931fs)
|
rs2125978572
|
|
NM_006514.4(SCN10A):c.5804G>A (p.Arg1935Lys)
|
|
|
NM_006514.4(SCN10A):c.5820A>G (p.Ile1940Met)
|
rs2063100815
|
|
NM_006514.4(SCN10A):c.5827G>T (p.Glu1943Ter)
|
rs2063100701
|
|
NM_006514.4(SCN10A):c.5834A>C (p.Glu1945Ala)
|
|
|
NM_006514.4(SCN10A):c.5858C>T (p.Ala1953Val)
|
rs770070419
|
|
NM_006514.4(SCN10A):c.5863G>A (p.Gly1955Arg)
|
rs1575913891
|
|
NM_006514.4(SCN10A):c.586G>A (p.Val196Ile)
|
|
|
NM_006514.4(SCN10A):c.599+2T>C
|
rs746795885
|
|
NM_006514.4(SCN10A):c.605T>C (p.Val202Ala)
|
rs2063900078
|
|
NM_006514.4(SCN10A):c.610A>G (p.Thr204Ala)
|
|
|
NM_006514.4(SCN10A):c.616A>G (p.Ile206Val)
|
rs2063899867
|
|
NM_006514.4(SCN10A):c.61C>G (p.Leu21Val)
|
rs1553626259
|
|
NM_006514.4(SCN10A):c.625C>T (p.Arg209Cys)
|
|
|
NM_006514.4(SCN10A):c.644G>A (p.Arg215Gln)
|
rs1417349620
|
|
NM_006514.4(SCN10A):c.692G>A (p.Gly231Asp)
|
rs764095900
|
|
NM_006514.4(SCN10A):c.70A>T (p.Ile24Leu)
|
|
|
NM_006514.4(SCN10A):c.733A>G (p.Lys245Glu)
|
rs780602857
|
|
NM_006514.4(SCN10A):c.760A>G (p.Ile254Val)
|
rs766143752
|
|
NM_006514.4(SCN10A):c.762C>G (p.Ile254Met)
|
|
|
NM_006514.4(SCN10A):c.795_800del (p.Gln266_Leu267del)
|
|
|
NM_006514.4(SCN10A):c.809del (p.Gly270fs)
|
rs749875280
|
|
NM_006514.4(SCN10A):c.80A>G (p.Gln27Arg)
|
|
|
NM_006514.4(SCN10A):c.826T>A (p.Cys276Ser)
|
|
|
NM_006514.4(SCN10A):c.842T>G (p.Met281Arg)
|
|
|
NM_006514.4(SCN10A):c.844G>A (p.Ala282Thr)
|
|
|
NM_006514.4(SCN10A):c.857C>A (p.Thr286Lys)
|
rs147150438
|
|
NM_006514.4(SCN10A):c.860C>G (p.Thr287Ser)
|
rs779570073
|
|
NM_006514.4(SCN10A):c.883+1del
|
rs1459269953
|
|
NM_006514.4(SCN10A):c.890T>G (p.Ile297Ser)
|
rs553913580
|
|
NM_006514.4(SCN10A):c.908G>A (p.Gly303Asp)
|
|
|
NM_006514.4(SCN10A):c.91A>G (p.Lys31Glu)
|
|
|
NM_006514.4(SCN10A):c.926del (p.Leu309fs)
|
|
|
NM_006514.4(SCN10A):c.927del (p.Cys310fs)
|
rs2063859649
|
|
NM_006514.4(SCN10A):c.950+4A>G
|
|
|
NM_006514.4(SCN10A):c.951-12T>A
|
|
|
NM_006514.4(SCN10A):c.958C>T (p.Pro320Ser)
|
|
|
NM_006514.4(SCN10A):c.95A>G (p.Gln32Arg)
|
rs2064318777
|
|
NM_012282.3(KCNE5):c.-144-?_*892dup1465
|
|
|
NM_012282.4(KCNE5):c.100C>T (p.Arg34Cys)
|
|
|
NM_012282.4(KCNE5):c.124G>A (p.Val42Met)
|
|
|
NM_012282.4(KCNE5):c.130G>C (p.Asp44His)
|
rs1934267803
|
|
NM_012282.4(KCNE5):c.139G>C (p.Val47Leu)
|
|
|
NM_012282.4(KCNE5):c.13del (p.Glu5fs)
|
|
|
NM_012282.4(KCNE5):c.169G>A (p.Asp57Asn)
|
|
|
NM_012282.4(KCNE5):c.179A>G (p.Tyr60Cys)
|
rs1934266717
|
|
NM_012282.4(KCNE5):c.193C>T (p.Leu65Phe)
|
|
|
NM_012282.4(KCNE5):c.200T>A (p.Met67Lys)
|
|
|
NM_012282.4(KCNE5):c.202A>C (p.Ile68Leu)
|
|
|
NM_012282.4(KCNE5):c.203T>C (p.Ile68Thr)
|
|
|
NM_012282.4(KCNE5):c.203TCT[1] (p.Phe69del)
|
rs1184414342
|
|
NM_012282.4(KCNE5):c.227G>A (p.Gly76Asp)
|
|
|
NM_012282.4(KCNE5):c.254G>A (p.Arg85His)
|
rs750897913
|
|
NM_012282.4(KCNE5):c.265G>A (p.Glu89Lys)
|
|
|
NM_012282.4(KCNE5):c.269C>T (p.Ala90Val)
|
|
|
NM_012282.4(KCNE5):c.276_277delinsAT (p.Asp92_Glu93delinsGluTer)
|
rs2147333878
|
|
NM_012282.4(KCNE5):c.280C>T (p.Pro94Ser)
|
rs374913815
|
|
NM_012282.4(KCNE5):c.283T>C (p.Ser95Pro)
|
|
|
NM_012282.4(KCNE5):c.297_301del (p.Glu100fs)
|
rs757341707
|
|
NM_012282.4(KCNE5):c.29G>T (p.Arg10Leu)
|
|
|
NM_012282.4(KCNE5):c.322G>A (p.Ala108Thr)
|
|
|
NM_012282.4(KCNE5):c.329C>A (p.Thr110Asn)
|
rs2147333805
|
|
NM_012282.4(KCNE5):c.330C>T (p.Thr110=)
|
|
|
NM_012282.4(KCNE5):c.336C>A (p.Asp112Glu)
|
rs72548778
|
|
NM_012282.4(KCNE5):c.337_338delinsAA (p.Ala113Asn)
|
rs2147333788
|
|
NM_012282.4(KCNE5):c.349G>A (p.Ala117Thr)
|
rs951525284
|
|
NM_012282.4(KCNE5):c.358C>T (p.Gln120Ter)
|
|
|
NM_012282.4(KCNE5):c.371G>T (p.Arg124Leu)
|
rs2147333758
|
|
NM_012282.4(KCNE5):c.374G>A (p.Arg125His)
|
|
|
NM_012282.4(KCNE5):c.397C>T (p.Pro133Ser)
|
rs776874809
|
|
NM_012282.4(KCNE5):c.44G>T (p.Arg15Leu)
|
|
|
NM_012282.4(KCNE5):c.55G>C (p.Glu19Gln)
|
rs374389286
|
|
NM_012282.4(KCNE5):c.64C>T (p.His22Tyr)
|
|
|
NM_012282.4(KCNE5):c.71G>A (p.Gly24Asp)
|
rs778650204
|
|
NM_012282.4(KCNE5):c.79A>G (p.Ser27Gly)
|
|
|
NM_012282.4(KCNE5):c.7T>A (p.Cys3Ser)
|
|
|
NM_014391.3(ANKRD1):c.612G>T (p.Leu204Phe)
|
rs869025363
|
|
NM_015141.4(GPD1L):c.*1del (p.Ter352=)
|
rs2125501560
|
|
NM_015141.4(GPD1L):c.*2347CT[1]
|
rs537616228
|
|
NM_015141.4(GPD1L):c.1001G>A (p.Ser334Asn)
|
rs1701139581
|
|
NM_015141.4(GPD1L):c.1021T>G (p.Leu341Val)
|
rs1344615515
|
|
NM_015141.4(GPD1L):c.1025C>G (p.Ser342Cys)
|
rs1553663710
|
|
NM_015141.4(GPD1L):c.1027T>G (p.Cys343Gly)
|
|
|
NM_015141.4(GPD1L):c.1028G>A (p.Cys343Tyr)
|
|
|
NM_015141.4(GPD1L):c.119T>G (p.Met40Arg)
|
rs1700538814
|
|
NM_015141.4(GPD1L):c.121T>A (p.Trp41Arg)
|
|
|
NM_015141.4(GPD1L):c.134A>C (p.Glu45Ala)
|
rs934971247
|
|
NM_015141.4(GPD1L):c.13C>T (p.Pro5Ser)
|
|
|
NM_015141.4(GPD1L):c.14C>T (p.Pro5Leu)
|
rs1156887730
|
|
NM_015141.4(GPD1L):c.179A>G (p.His60Arg)
|
rs1700539904
|
|
NM_015141.4(GPD1L):c.215C>T (p.Pro72Leu)
|
rs1559573147
|
|
NM_015141.4(GPD1L):c.236C>G (p.Ser79Ter)
|
rs765805642
|
|
NM_015141.4(GPD1L):c.238A>G (p.Asn80Asp)
|
rs1553659648
|
|
NM_015141.4(GPD1L):c.245G>T (p.Ser82Ile)
|
rs878855004
|
|
NM_015141.4(GPD1L):c.257A>G (p.Gln86Arg)
|
rs755240955
|
|
NM_015141.4(GPD1L):c.261_262insCTT (p.Asp87_Ala88insLeu)
|
|
|
NM_015141.4(GPD1L):c.262G>A (p.Ala88Thr)
|
rs1700699304
|
|
NM_015141.4(GPD1L):c.286C>T (p.Pro96Ser)
|
|
|
NM_015141.4(GPD1L):c.287C>T (p.Pro96Leu)
|
rs1700699549
|
|
NM_015141.4(GPD1L):c.293A>G (p.Gln98Arg)
|
rs745770005
|
|
NM_015141.4(GPD1L):c.298A>C (p.Ile100Leu)
|
|
|
NM_015141.4(GPD1L):c.320T>C (p.Ile107Thr)
|
rs374305150
|
|
NM_015141.4(GPD1L):c.322A>T (p.Thr108Ser)
|
|
|
NM_015141.4(GPD1L):c.338A>G (p.Lys113Arg)
|
rs2125485247
|
|
NM_015141.4(GPD1L):c.359T>A (p.Leu120His)
|
|
|
NM_015141.4(GPD1L):c.372A>G (p.Ile124Met)
|
rs182826539
|
|
NM_015141.4(GPD1L):c.376G>A (p.Glu126Lys)
|
rs1700722155
|
|
NM_015141.4(GPD1L):c.382C>T (p.Pro128Ser)
|
|
|
NM_015141.4(GPD1L):c.387G>C (p.Glu129Asp)
|
rs1220054300
|
|
NM_015141.4(GPD1L):c.391C>A (p.Leu131Met)
|
rs1700722701
|
|
NM_015141.4(GPD1L):c.400A>T (p.Ile134Phe)
|
|
|
NM_015141.4(GPD1L):c.40G>A (p.Gly14Arg)
|
rs1559565644
|
|
NM_015141.4(GPD1L):c.414C>G (p.Ile138Met)
|
|
|
NM_015141.4(GPD1L):c.41G>A (p.Gly14Glu)
|
rs1700170976
|
|
NM_015141.4(GPD1L):c.426G>A (p.Met142Ile)
|
|
|
NM_015141.4(GPD1L):c.428G>C (p.Gly143Ala)
|
rs989262156
|
|
NM_015141.4(GPD1L):c.44A>G (p.Asn15Ser)
|
|
|
NM_015141.4(GPD1L):c.451G>A (p.Gly151Arg)
|
|
|
NM_015141.4(GPD1L):c.48G>A (p.Trp16Ter)
|
|
|
NM_015141.4(GPD1L):c.491G>A (p.Cys164Tyr)
|
rs1471870007
|
|
NM_015141.4(GPD1L):c.493G>A (p.Glu165Lys)
|
|
|
NM_015141.4(GPD1L):c.501_505+8del
|
|
|
NM_015141.4(GPD1L):c.503T>C (p.Ile168Thr)
|
rs1700725665
|
|
NM_015141.4(GPD1L):c.504C>T (p.Ile168=)
|
|
|
NM_015141.4(GPD1L):c.529C>T (p.Leu177Phe)
|
|
|
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser)
|
rs951273802
|
|
NM_015141.4(GPD1L):c.565C>T (p.Arg189Ter)
|
|
|
NM_015141.4(GPD1L):c.566G>A (p.Arg189Gln)
|
|
|
NM_015141.4(GPD1L):c.58G>A (p.Val20Ile)
|
|
|
NM_015141.4(GPD1L):c.590A>C (p.Asp197Ala)
|
rs1700832089
|
|
NM_015141.4(GPD1L):c.59T>C (p.Val20Ala)
|
|
|
NM_015141.4(GPD1L):c.607G>C (p.Gly203Arg)
|
|
|
NM_015141.4(GPD1L):c.608G>C (p.Gly203Ala)
|
rs1559579249
|
|
NM_015141.4(GPD1L):c.619-9C>A
|
rs2044880
|
|
NM_015141.4(GPD1L):c.624C>G (p.Ile208Met)
|
rs267599768
|
|
NM_015141.4(GPD1L):c.625G>A (p.Val209Ile)
|
|
|
NM_015141.4(GPD1L):c.638C>G (p.Ala213Gly)
|
|
|
NM_015141.4(GPD1L):c.653G>C (p.Gly218Ala)
|
rs148361833
|
|
NM_015141.4(GPD1L):c.679G>A (p.Ala227Thr)
|
|
|
NM_015141.4(GPD1L):c.680C>T (p.Ala227Val)
|
rs980532320
|
|
NM_015141.4(GPD1L):c.703A>G (p.Met235Val)
|
rs1254946428
|
|
NM_015141.4(GPD1L):c.739G>A (p.Gly247Ser)
|
rs766090919
|
|
NM_015141.4(GPD1L):c.745G>A (p.Val249Met)
|
rs148464224
|
|
NM_015141.4(GPD1L):c.745G>C (p.Val249Leu)
|
rs148464224
|
|
NM_015141.4(GPD1L):c.754G>A (p.Ala252Thr)
|
rs767832404
|
|
NM_015141.4(GPD1L):c.763C>G (p.Leu255Val)
|
|
|
NM_015141.4(GPD1L):c.784G>A (p.Asp262Asn)
|
|
|
NM_015141.4(GPD1L):c.805G>A (p.Gly269Arg)
|
rs786205268
|
|
NM_015141.4(GPD1L):c.821G>T (p.Arg274Met)
|
rs2125497965
|
|
NM_015141.4(GPD1L):c.853-2A>G
|
rs766733448
|
|
NM_015141.4(GPD1L):c.914CTG[1] (p.Ala306del)
|
rs2125498333
|
|
NM_015141.4(GPD1L):c.917_918delinsGG (p.Ala306Gly)
|
rs1701049565
|
|
NM_015141.4(GPD1L):c.928C>A (p.Arg310Ser)
|
rs1216770303
|
|
NM_015141.4(GPD1L):c.929G>A (p.Arg310His)
|
|
|
NM_015141.4(GPD1L):c.929G>T (p.Arg310Leu)
|
|
|
NM_015141.4(GPD1L):c.99A>T (p.Lys33Asn)
|
|
|
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del)
|
rs878855029
|
|
NM_017636.4(TRPM4):c.1873+3G>T
|
rs779988026
|
|
NM_170741.4(KCNJ16):c.664C>T (p.Arg222Cys)
|
rs148765286
|
|
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)
|
|
|
NM_201590.3(CACNB2):c.13C>G (p.Arg5Gly)
|
|
|
NM_201590.3(CACNB2):c.13C>T (p.Arg5Cys)
|
|
|
NM_201590.3(CACNB2):c.20T>C (p.Ile7Thr)
|
rs1006602326
|
|
NM_201590.3(CACNB2):c.25C>G (p.Pro9Ala)
|
|
|
NM_201590.3(CACNB2):c.26C>T (p.Pro9Leu)
|
|
|
NM_201590.3(CACNB2):c.28C>T (p.Gln10Ter)
|
rs2041209208
|
|
NM_201590.3(CACNB2):c.43A>T (p.Ile15Phe)
|
rs2041210092
|
|
NM_201590.3(CACNB2):c.51G>A (p.Gly17=)
|
|
|
NM_201590.3(CACNB2):c.8A>G (p.Asp3Gly)
|
|
|
NM_201596.3(CACNB2):c.*10_*11del
|
rs886046886
|
|
NM_201596.3(CACNB2):c.*10del
|
rs367928065
|
|
NM_201596.3(CACNB2):c.*124_*127dup
|
rs886046891
|
|
NM_201596.3(CACNB2):c.*15dup
|
rs886046887
|
|
NM_201596.3(CACNB2):c.*186_*189dup
|
rs886046892
|
|
NM_201596.3(CACNB2):c.*34_*35insGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCCGTTTGTGTTTTTTTTTTTTTTTTTT (p.Ter661=)
|
|
|
NM_201596.3(CACNB2):c.*41_*45dup
|
rs758274878
|
|
NM_201596.3(CACNB2):c.*607_*608insAT
|
rs886046898
|
|
NM_201596.3(CACNB2):c.*608_*609delinsAT
|
rs886046899
|
|
NM_201596.3(CACNB2):c.*610AT[4]
|
rs34551674
|
|
NM_201596.3(CACNB2):c.*610AT[8]
|
rs34551674
|
|
NM_201596.3(CACNB2):c.*694del
|
rs886046902
|
|
NM_201596.3(CACNB2):c.*786_*789dup
|
rs1554843746
|
|
NM_201596.3(CACNB2):c.*790CTTGA[3]
|
rs528559406
|
|
NM_201596.3(CACNB2):c.*835AAGT[3]
|
rs547804393
|
|
NM_201596.3(CACNB2):c.*9_*10insTTTTGTGTTTTTTTTTTTTTTTTTTTTGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCC (p.Ter661=)
|
rs2133338573
|
|
NM_201596.3(CACNB2):c.1001A>G (p.Asn334Ser)
|
rs1589701386
|
|
NM_201596.3(CACNB2):c.1017C>A (p.His339Gln)
|
rs747015946
|
|
NM_201596.3(CACNB2):c.1021A>G (p.Ile341Val)
|
rs2052613832
|
|
NM_201596.3(CACNB2):c.1027G>A (p.Glu343Lys)
|
|
|
NM_201596.3(CACNB2):c.1049G>C (p.Ser350Thr)
|
rs1348268646
|
|
NM_201596.3(CACNB2):c.1055-1G>A
|
rs2053323477
|
|
NM_201596.3(CACNB2):c.1058_1060dup (p.Glu353dup)
|
rs2053324063
|
|
NM_201596.3(CACNB2):c.1063C>T (p.Gln355Ter)
|
|
|
NM_201596.3(CACNB2):c.1090C>T (p.Leu364Phe)
|
rs2053326547
|
|
NM_201596.3(CACNB2):c.1093G>A (p.Ala365Thr)
|
|
|
NM_201596.3(CACNB2):c.1105C>A (p.Gln369Lys)
|
|
|
NM_201596.3(CACNB2):c.1112T>C (p.Val371Ala)
|
|
|
NM_201596.3(CACNB2):c.1114G>A (p.Val372Ile)
|
|
|
NM_201596.3(CACNB2):c.1117C>T (p.Leu373Phe)
|
|
|
NM_201596.3(CACNB2):c.1130_1153del (p.Thr377_Leu384del)
|
|
|
NM_201596.3(CACNB2):c.1138C>T (p.His380Tyr)
|
rs935123934
|
|
NM_201596.3(CACNB2):c.1144G>C (p.Ala382Pro)
|
rs1318411856
|
|
NM_201596.3(CACNB2):c.1150C>T (p.Leu384Phe)
|
rs2053331995
|
|
NM_201596.3(CACNB2):c.1160C>T (p.Thr387Ile)
|
|
|
NM_201596.3(CACNB2):c.1177A>G (p.Ile393Val)
|
|
|
NM_201596.3(CACNB2):c.1178T>G (p.Ile393Arg)
|
rs139749312
|
|
NM_201596.3(CACNB2):c.1206+5G>A
|
rs2133284616
|
|
NM_201596.3(CACNB2):c.1207-3C>T
|
|
|
NM_201596.3(CACNB2):c.121-2A>T
|
rs750396182
|
|
NM_201596.3(CACNB2):c.121-3_121-2insTTTTTTTTTTGT
|
|
|
NM_201596.3(CACNB2):c.1212A>C (p.Leu404Phe)
|
|
|
NM_201596.3(CACNB2):c.1232G>A (p.Arg411Gln)
|
rs763862968
|
|
NM_201596.3(CACNB2):c.1246G>A (p.Ala416Thr)
|
|
|
NM_201596.3(CACNB2):c.1252C>A (p.His418Asn)
|
|
|
NM_201596.3(CACNB2):c.1252C>T (p.His418Tyr)
|
|
|
NM_201596.3(CACNB2):c.1276G>C (p.Ala426Pro)
|
|
|
NM_201596.3(CACNB2):c.1288G>T (p.Ala430Ser)
|
rs2053550331
|
|
NM_201596.3(CACNB2):c.1293G>C (p.Gln431His)
|
rs148414498
|
|
NM_201596.3(CACNB2):c.1297_1298delinsGT (p.Pro433Val)
|
|
|
NM_201596.3(CACNB2):c.1300C>T (p.Pro434Ser)
|
rs2053551297
|
|
NM_201596.3(CACNB2):c.1302A>G (p.Pro434=)
|
rs775556040
|
|
NM_201596.3(CACNB2):c.1303-3C>T
|
|
|
NM_201596.3(CACNB2):c.1303G>C (p.Glu435Gln)
|
rs1554842171
|
|
NM_201596.3(CACNB2):c.1312G>A (p.Asp438Asn)
|
|
|
NM_201596.3(CACNB2):c.1312G>C (p.Asp438His)
|
|
|
NM_201596.3(CACNB2):c.1390A>T (p.Thr464Ser)
|
rs1589770075
|
|
NM_201596.3(CACNB2):c.1396C>G (p.Pro466Ala)
|
rs1164299168
|
|
NM_201596.3(CACNB2):c.1432C>G (p.Arg478Gly)
|
|
|
NM_201596.3(CACNB2):c.1432C>T (p.Arg478Cys)
|
rs551742573
|
|
NM_201596.3(CACNB2):c.1436C>A (p.Thr479Lys)
|
rs750709385
|
|
NM_201596.3(CACNB2):c.1459C>G (p.Leu487Val)
|
rs2133325170
|
|
NM_201596.3(CACNB2):c.1468A>G (p.Thr490Ala)
|
|
|
NM_201596.3(CACNB2):c.1474G>C (p.Ala492Pro)
|
|
|
NM_201596.3(CACNB2):c.1489-17_1489-16delinsTT
|
|
|
NM_201596.3(CACNB2):c.1489-1G>T
|
rs2133332957
|
|
NM_201596.3(CACNB2):c.1489G>A (p.Gly497Ser)
|
|
|
NM_201596.3(CACNB2):c.1490G>T (p.Gly497Val)
|
|
|
NM_201596.3(CACNB2):c.1492T>G (p.Ser498Ala)
|
rs886046884
|
|
NM_201596.3(CACNB2):c.1501G>C (p.Asp501His)
|
|
|
NM_201596.3(CACNB2):c.1517_1518delinsAT (p.Arg506His)
|
rs2133333288
|
|
NM_201596.3(CACNB2):c.1528A>G (p.Ile510Val)
|
|
|
NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys)
|
rs764111314
|
|
NM_201596.3(CACNB2):c.1534del (p.Ser512fs)
|
rs767341738
|
|
NM_201596.3(CACNB2):c.1545A>G (p.Gln515=)
|
|
|
NM_201596.3(CACNB2):c.1559C>T (p.Pro520Leu)
|
|
|
NM_201596.3(CACNB2):c.1562G>A (p.Ser521Asn)
|
rs1359160320
|
|
NM_201596.3(CACNB2):c.1570C>T (p.Pro524Ser)
|
rs1349921106
|
|
NM_201596.3(CACNB2):c.1571C>G (p.Pro524Arg)
|
rs1238888276
|
|
NM_201596.3(CACNB2):c.1573G>C (p.Val525Leu)
|
|
|
NM_201596.3(CACNB2):c.1574T>A (p.Val525Asp)
|
|
|
NM_201596.3(CACNB2):c.1582T>C (p.Ser528Pro)
|
rs777178427
|
|
NM_201596.3(CACNB2):c.1591C>G (p.Arg531Gly)
|
rs202152674
|
|
NM_201596.3(CACNB2):c.1607C>G (p.Ala536Gly)
|
|
|
NM_201596.3(CACNB2):c.1612C>A (p.His538Asn)
|
|
|
NM_201596.3(CACNB2):c.1624C>G (p.Arg542Gly)
|
|
|
NM_201596.3(CACNB2):c.1624C>T (p.Arg542Cys)
|
rs750387227
|
|
NM_201596.3(CACNB2):c.1632del (p.Thr545fs)
|
|
|
NM_201596.3(CACNB2):c.1639C>A (p.Arg547Ser)
|
rs774654438
|
|
NM_201596.3(CACNB2):c.1639C>T (p.Arg547Cys)
|
rs774654438
|
|
NM_201596.3(CACNB2):c.1657G>A (p.Glu553Lys)
|
|
|
NM_201596.3(CACNB2):c.1657G>C (p.Glu553Gln)
|
|
|
NM_201596.3(CACNB2):c.1659G>C (p.Glu553Asp)
|
|
|
NM_201596.3(CACNB2):c.1663T>C (p.Phe555Leu)
|
rs1589778402
|
|
NM_201596.3(CACNB2):c.1665T>G (p.Phe555Leu)
|
rs878855311
|
|
NM_201596.3(CACNB2):c.1679A>G (p.Gln560Arg)
|
|
|
NM_201596.3(CACNB2):c.1682A>G (p.Glu561Gly)
|
rs2133335003
|
|
NM_201596.3(CACNB2):c.1683G>T (p.Glu561Asp)
|
|
|
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln)
|
rs766377211
|
|
NM_201596.3(CACNB2):c.1688G>C (p.Arg563Pro)
|
rs766377211
|
|
NM_201596.3(CACNB2):c.1693T>C (p.Ser565Pro)
|
|
|
NM_201596.3(CACNB2):c.1701C>G (p.Tyr567Ter)
|
|
|
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1702G>T (p.Val568Leu)
|
rs142639223
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NM_201596.3(CACNB2):c.1715A>T (p.Glu572Val)
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NM_201596.3(CACNB2):c.1718A>C (p.Asp573Ala)
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rs773534767
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NM_201596.3(CACNB2):c.1726C>T (p.His576Tyr)
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NM_201596.3(CACNB2):c.1727_1756del (p.His576_His585del)
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NM_201596.3(CACNB2):c.1744T>C (p.Tyr582His)
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NM_201596.3(CACNB2):c.1744_1764del (p.Tyr582_His588del)
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rs2053933206
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NM_201596.3(CACNB2):c.1748C>T (p.Ala583Val)
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NM_201596.3(CACNB2):c.1753C>G (p.His585Asp)
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NM_201596.3(CACNB2):c.1754A>G (p.His585Arg)
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rs1412805204
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NM_201596.3(CACNB2):c.1757G>T (p.Arg586Leu)
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rs747168096
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NM_201596.3(CACNB2):c.1767C>G (p.Asn589Lys)
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NM_201596.3(CACNB2):c.1777G>A (p.Glu593Lys)
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NM_201596.3(CACNB2):c.1793G>C (p.Ser598Thr)
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NM_201596.3(CACNB2):c.1817G>A (p.Arg606Gln)
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NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro)
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rs577739840
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NM_201596.3(CACNB2):c.1818_1823del (p.His607_Arg608del)
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rs1231423069
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NM_201596.3(CACNB2):c.1822_1833dup (p.Arg608_Asp611dup)
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rs2053942119
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NM_201596.3(CACNB2):c.1823G>T (p.Arg608Leu)
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NM_201596.3(CACNB2):c.1831G>A (p.Asp611Asn)
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rs1239176754
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NM_201596.3(CACNB2):c.1834G>A (p.Val612Met)
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NM_201596.3(CACNB2):c.1838A>C (p.Asp613Ala)
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NM_201596.3(CACNB2):c.1844A>C (p.Glu615Ala)
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rs1564678668
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NM_201596.3(CACNB2):c.1851_1859dup (p.Asp617_Asn619dup)
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rs1554843116
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NM_201596.3(CACNB2):c.1855_1857del (p.Asn619del)
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NM_201596.3(CACNB2):c.1885A>G (p.Lys629Glu)
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rs1554843156
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NM_201596.3(CACNB2):c.1897C>T (p.Arg633Cys)
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rs746092806
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NM_201596.3(CACNB2):c.1903T>C (p.Cys635Arg)
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rs1443093872
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NM_201596.3(CACNB2):c.1910dup (p.Asp638fs)
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rs750015594
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NM_201596.3(CACNB2):c.1911G>C (p.Lys637Asn)
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NM_201596.3(CACNB2):c.1913A>G (p.Asp638Gly)
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rs372277783
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NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642delinsLysTer)
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NM_201596.3(CACNB2):c.1922T>C (p.Val641Ala)
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NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr)
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rs1554843232
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NM_201596.3(CACNB2):c.1927_1929dup (p.Ser643_Lys644insSer)
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NM_201596.3(CACNB2):c.1934A>G (p.Lys645Arg)
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NM_201596.3(CACNB2):c.1937G>C (p.Arg646Pro)
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NM_201596.3(CACNB2):c.1959C>G (p.Asn653Lys)
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rs1414134597
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NM_201596.3(CACNB2):c.1960_1970dup (p.Tyr657Ter)
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NM_201596.3(CACNB2):c.1962G>T (p.Arg654Ser)
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rs915270594
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NM_201596.3(CACNB2):c.1964A>T (p.Asp655Val)
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NM_201596.3(CACNB2):c.1976G>A (p.Arg659His)
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NM_201596.3(CACNB2):c.277G>C (p.Glu93Gln)
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NM_201596.3(CACNB2):c.278A>C (p.Glu93Ala)
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rs2132536672
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NM_201596.3(CACNB2):c.281C>G (p.Ala94Gly)
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NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr)
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rs1564509094
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NM_201596.3(CACNB2):c.305A>G (p.Gln102Arg)
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rs1368397195
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NM_201596.3(CACNB2):c.313G>A (p.Ala105Thr)
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rs773650491
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NM_201596.3(CACNB2):c.313G>C (p.Ala105Pro)
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NM_201596.3(CACNB2):c.328G>A (p.Ala110Thr)
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rs765424880
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NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser)
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rs768218683
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NM_201596.3(CACNB2):c.343G>A (p.Val115Ile)
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rs747480172
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NM_201596.3(CACNB2):c.347C>T (p.Ala116Val)
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rs1423731870
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NM_201596.3(CACNB2):c.355G>C (p.Val119Leu)
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NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)
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rs202220375
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NM_201596.3(CACNB2):c.367G>A (p.Val123Ile)
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rs1488807984
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NM_201596.3(CACNB2):c.377G>T (p.Ser126Ile)
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rs553297982
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NM_201596.3(CACNB2):c.383C>T (p.Ala128Val)
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rs376636577
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NM_201596.3(CACNB2):c.386A>G (p.His129Arg)
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NM_201596.3(CACNB2):c.386A>T (p.His129Leu)
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NM_201596.3(CACNB2):c.392A>G (p.Asp131Gly)
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rs2133011061
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NM_201596.3(CACNB2):c.392ATG[3] (p.Asp132dup)
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rs2049969382
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NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr)
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rs1317419789
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NM_201596.3(CACNB2):c.3G>A (p.Met1Ile)
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NM_201596.3(CACNB2):c.400C>G (p.Pro134Ala)
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NM_201596.3(CACNB2):c.410G>C (p.Gly137Ala)
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rs754596850
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NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser)
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rs886039055
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NM_201596.3(CACNB2):c.437A>G (p.Asp146Gly)
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rs1554831392
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NM_201596.3(CACNB2):c.442C>G (p.Leu148Val)
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rs1554831400
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NM_201596.3(CACNB2):c.445C>T (p.His149Tyr)
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rs2049973374
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NM_201596.3(CACNB2):c.446A>C (p.His149Pro)
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rs2049973507
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NM_201596.3(CACNB2):c.456+24_456+25insTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAATAATTTCATTTTCT
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NM_201596.3(CACNB2):c.467A>G (p.Asn156Ser)
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NM_201596.3(CACNB2):c.485G>T (p.Arg162Leu)
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rs144461906
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NM_201596.3(CACNB2):c.493A>G (p.Lys165Glu)
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NM_201596.3(CACNB2):c.500G>T (p.Gly167Val)
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NM_201596.3(CACNB2):c.524G>A (p.Ser175Asn)
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NM_201596.3(CACNB2):c.566G>T (p.Arg189Ile)
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NM_201596.3(CACNB2):c.585C>G (p.Phe195Leu)
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NM_201596.3(CACNB2):c.589T>G (p.Ser197Ala)
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NM_201596.3(CACNB2):c.593+4T>C
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NM_201596.3(CACNB2):c.594T>G (p.Ser198Arg)
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NM_201596.3(CACNB2):c.622T>G (p.Leu208Val)
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rs538160664
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NM_201596.3(CACNB2):c.641G>A (p.Ser214Asn)
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NM_201596.3(CACNB2):c.644C>A (p.Ser215Tyr)
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NM_201596.3(CACNB2):c.652T>G (p.Ser218Ala)
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rs774211226
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NM_201596.3(CACNB2):c.667T>A (p.Ser223Thr)
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rs1564629335
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NM_201596.3(CACNB2):c.674T>C (p.Ile225Thr)
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rs772796787
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NM_201596.3(CACNB2):c.682G>T (p.Asp228Tyr)
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rs2133126746
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NM_201596.3(CACNB2):c.689C>T (p.Thr230Ile)
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NM_201596.3(CACNB2):c.710A>C (p.Asn237Thr)
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rs1554835149
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NM_201596.3(CACNB2):c.712G>A (p.Asp238Asn)
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NM_201596.3(CACNB2):c.736C>G (p.Pro246Ala)
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rs2051061080
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NM_201596.3(CACNB2):c.743C>G (p.Pro248Arg)
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NM_201596.3(CACNB2):c.799A>G (p.Lys267Glu)
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NM_201596.3(CACNB2):c.804+664C>T
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NM_201596.3(CACNB2):c.804+6A>G
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NM_201596.3(CACNB2):c.805-3C>A
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rs764050459
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NM_201596.3(CACNB2):c.805A>G (p.Thr269Ala)
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NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu)
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rs375425461
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NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala)
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rs889646922
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NM_201596.3(CACNB2):c.856C>G (p.Leu286Val)
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NM_201596.3(CACNB2):c.859G>C (p.Val287Leu)
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rs1217728234
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NM_201596.3(CACNB2):c.885+3G>A
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NM_201596.3(CACNB2):c.885+4G>A
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NM_201596.3(CACNB2):c.895ATG[1] (p.Met300del)
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rs2051551471
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NM_201596.3(CACNB2):c.899T>A (p.Met300Lys)
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rs1564644091
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NM_201596.3(CACNB2):c.910C>G (p.Leu304Val)
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NM_201596.3(CACNB2):c.940G>A (p.Gly314Arg)
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NM_201596.3(CACNB2):c.943C>T (p.Arg315Trp)
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NM_201596.3(CACNB2):c.944+3_944+6del
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NM_201596.3(CACNB2):c.964A>T (p.Thr322Ser)
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rs2052608666
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NM_201596.3(CACNB2):c.967G>T (p.Ala323Ser)
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rs561197163
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NM_201596.3(CACNB2):c.972C>G (p.Asp324Glu)
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NM_201596.3(CACNB2):c.992C>T (p.Ser331Leu)
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Single allele
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