NM_201596.3(CACNB2):c.*10G>T
|
rs4747352
|
0.76187
|
NM_201596.3(CACNB2):c.670+2843T>C
|
rs4748477
|
0.41677
|
NM_201596.3(CACNB2):c.214-61250G>A
|
rs10828545
|
0.40477
|
NM_201596.3(CACNB2):c.1701C>T (p.Tyr567=)
|
rs2228645
|
0.19212
|
NM_201596.3(CACNB2):c.1054+7C>T
|
rs4314963
|
0.19120
|
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu)
|
rs58225473
|
0.14908
|
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=)
|
rs34813638
|
0.01090
|
NM_201596.3(CACNB2):c.1785C>T (p.His595=)
|
rs61733967
|
0.00879
|
NM_201596.3(CACNB2):c.993G>A (p.Ser331=)
|
rs76956014
|
0.00852
|
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=)
|
rs34503140
|
0.00787
|
NM_201596.3(CACNB2):c.1206+6T>C
|
rs147857449
|
0.00575
|
NM_201596.3(CACNB2):c.*16_*17insC
|
rs753335762
|
0.00556
|
NM_201596.3(CACNB2):c.214-61251C>A
|
rs117558767
|
0.00414
|
NM_201596.3(CACNB2):c.1488+13_1488+33dup
|
rs757040188
|
0.00361
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
NM_201596.3(CACNB2):c.804+653G>A
|
rs142899184
|
0.00292
|
NM_201596.3(CACNB2):c.915T>C (p.Phe305=)
|
rs149586418
|
0.00282
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys)
|
rs77141223
|
0.00115
|
NM_201596.3(CACNB2):c.354G>A (p.Ala118=)
|
rs182163363
|
0.00107
|
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)
|
rs150280879
|
0.00099
|
NM_201596.3(CACNB2):c.1293G>A (p.Gln431=)
|
rs148414498
|
0.00093
|
NM_201596.3(CACNB2):c.1553A>C (p.Glu518Ala)
|
rs138060429
|
0.00079
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_201596.3(CACNB2):c.*36del
|
rs752637408
|
0.00070
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_201596.3(CACNB2):c.121-1G>T
|
rs875989812
|
0.00062
|
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)
|
rs184280124
|
0.00057
|
NM_201596.3(CACNB2):c.805-3C>T
|
rs764050459
|
0.00052
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_201596.3(CACNB2):c.1054+18G>A
|
rs192538011
|
0.00039
|
NM_201596.3(CACNB2):c.1488+8G>A
|
rs375215183
|
0.00032
|
NM_201596.3(CACNB2):c.1650C>T (p.Ser550=)
|
rs149330185
|
0.00032
|
NM_201596.3(CACNB2):c.804+146G>T
|
rs199539261
|
0.00031
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
NM_201596.3(CACNB2):c.120+366C>G
|
rs570174364
|
0.00026
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
NM_201596.3(CACNB2):c.1488+9A>G
|
rs368473992
|
0.00026
|
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp)
|
rs546669133
|
0.00026
|
NM_201596.3(CACNB2):c.*758_*761dup
|
rs780734976
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
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_201596.3(CACNB2):c.634G>C (p.Val212Leu)
|
rs149167651
|
0.00019
|
NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg)
|
rs200764884
|
0.00017
|
NM_201596.3(CACNB2):c.*621_*622insCA
|
rs564407056
|
0.00016
|
NM_201596.3(CACNB2):c.1055-12C>T
|
rs376222853
|
0.00014
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
NM_201596.3(CACNB2):c.102G>T (p.Ala34=)
|
rs370839320
|
0.00013
|
NM_201596.3(CACNB2):c.306G>A (p.Gln102=)
|
rs571930944
|
0.00013
|
NM_201596.3(CACNB2):c.1488+7G>A
|
rs770757228
|
0.00011
|
NM_201596.3(CACNB2):c.671-18T>C
|
rs551760338
|
0.00011
|
NM_201596.3(CACNB2):c.1140T>C (p.His380=)
|
rs151199943
|
0.00010
|
NM_201596.3(CACNB2):c.1489-8G>A
|
rs557859826
|
0.00010
|
NM_201596.3(CACNB2):c.1719T>C (p.Asp573=)
|
rs781283574
|
0.00009
|
NM_201596.3(CACNB2):c.334-7A>T
|
rs779728445
|
0.00009
|
NM_201596.3(CACNB2):c.673A>G (p.Ile225Val)
|
rs140542975
|
0.00009
|
NM_201596.3(CACNB2):c.1640G>A (p.Arg547His)
|
rs377657305
|
0.00008
|
NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr)
|
rs778426010
|
0.00007
|
NM_201596.3(CACNB2):c.804+665G>A
|
rs373932682
|
0.00007
|
NM_201596.3(CACNB2):c.966C>T (p.Thr322=)
|
rs199847834
|
0.00007
|
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.1206+3A>T
|
rs200174877
|
0.00006
|
NM_201596.3(CACNB2):c.1303-4G>A
|
rs765944934
|
0.00006
|
NM_201596.3(CACNB2):c.1443C>T (p.Ala481=)
|
rs780182558
|
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_201596.3(CACNB2):c.334-8C>T
|
rs374465425
|
0.00006
|
NM_201596.3(CACNB2):c.1017C>T (p.His339=)
|
rs747015946
|
0.00005
|
NM_201596.3(CACNB2):c.1092T>C (p.Leu364=)
|
rs377767054
|
0.00005
|
NM_201596.3(CACNB2):c.1302+19C>T
|
rs1255438545
|
0.00005
|
NM_201596.3(CACNB2):c.1539T>C (p.Ala513=)
|
rs191856144
|
0.00005
|
NM_201596.3(CACNB2):c.978G>A (p.Ser326=)
|
rs753506761
|
0.00005
|
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.1671G>A (p.Ser557=)
|
rs2228646
|
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.218C>T (p.Ser73Leu)
|
rs755056713
|
0.00004
|
NM_201596.3(CACNB2):c.342C>T (p.Pro114=)
|
rs368505003
|
0.00004
|
NM_201596.3(CACNB2):c.381G>A (p.Ala127=)
|
rs371985646
|
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_201596.3(CACNB2):c.840C>T (p.Ser280=)
|
rs755781519
|
0.00004
|
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro)
|
rs373263114
|
0.00003
|
NM_201596.3(CACNB2):c.1055-11G>A
|
rs370266150
|
0.00003
|
NM_201596.3(CACNB2):c.1489-9C>T
|
rs759870881
|
0.00003
|
NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr)
|
rs759958799
|
0.00003
|
NM_201596.3(CACNB2):c.1580A>C (p.Lys527Thr)
|
rs771565696
|
0.00003
|
NM_201596.3(CACNB2):c.1833C>T (p.Asp611=)
|
rs777607595
|
0.00003
|
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln)
|
rs367619172
|
0.00003
|
NM_201596.3(CACNB2):c.1935A>C (p.Lys645Asn)
|
rs772752419
|
0.00003
|
NM_201596.3(CACNB2):c.544A>G (p.Met182Val)
|
rs775466397
|
0.00003
|
NM_201596.3(CACNB2):c.576A>G (p.Gln192=)
|
rs756710473
|
0.00003
|
NM_201596.3(CACNB2):c.800A>G (p.Lys267Arg)
|
rs771875189
|
0.00003
|
NM_201596.3(CACNB2):c.807A>G (p.Thr269=)
|
rs1173334982
|
0.00003
|
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.1260C>T (p.Asn420=)
|
rs931370978
|
0.00002
|
NM_201596.3(CACNB2):c.1311C>T (p.Phe437=)
|
rs560020203
|
0.00002
|
NM_201596.3(CACNB2):c.1488+20A>G
|
rs534447096
|
0.00002
|
NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys)
|
rs1339855749
|
0.00002
|
NM_201596.3(CACNB2):c.1713G>A (p.Lys571=)
|
rs774536008
|
0.00002
|
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=)
|
rs755387775
|
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.1812G>A (p.Glu604=)
|
rs749947014
|
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.334-15C>G
|
rs555514946
|
0.00002
|
NM_201596.3(CACNB2):c.426C>T (p.Phe142=)
|
rs564275776
|
0.00002
|
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln)
|
rs144461906
|
0.00002
|
NM_201596.3(CACNB2):c.886-6T>C
|
rs368130674
|
0.00002
|
NM_201596.3(CACNB2):c.994G>T (p.Val332Leu)
|
rs369543094
|
0.00002
|
NM_201590.3(CACNB2):c.2T>C (p.Met1Thr)
|
rs1401122407
|
0.00001
|
NM_201590.3(CACNB2):c.39C>T (p.Tyr13=)
|
rs1060504916
|
0.00001
|
NM_201596.3(CACNB2):c.1047A>G (p.Ser349=)
|
rs1287275969
|
0.00001
|
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=)
|
rs730880058
|
0.00001
|
NM_201596.3(CACNB2):c.1122C>T (p.Asp374=)
|
rs770364083
|
0.00001
|
NM_201596.3(CACNB2):c.1134T>C (p.Ile378=)
|
rs1388696673
|
0.00001
|
NM_201596.3(CACNB2):c.120+360G>C
|
rs1064795457
|
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.1332C>T (p.Asn444=)
|
rs1260592132
|
0.00001
|
NM_201596.3(CACNB2):c.1362C>T (p.Ala454=)
|
rs769870567
|
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.1419C>T (p.Asn473=)
|
rs372177929
|
0.00001
|
NM_201596.3(CACNB2):c.1431C>T (p.Ser477=)
|
rs764828520
|
0.00001
|
NM_201596.3(CACNB2):c.1464C>T (p.Ser488=)
|
rs1060504915
|
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.1602C>G (p.Ser534=)
|
rs763107822
|
0.00001
|
NM_201596.3(CACNB2):c.1625G>A (p.Arg542His)
|
rs571637787
|
0.00001
|
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=)
|
rs773373763
|
0.00001
|
NM_201596.3(CACNB2):c.1694C>T (p.Ser565Phe)
|
rs1178558183
|
0.00001
|
NM_201596.3(CACNB2):c.1695T>C (p.Ser565=)
|
rs754860454
|
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.1797C>T (p.Asp599=)
|
rs1060504914
|
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.1857C>T (p.Asn619=)
|
rs774096122
|
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.1941T>C (p.Asn647=)
|
rs749782217
|
0.00001
|
NM_201596.3(CACNB2):c.1944G>A (p.Glu648=)
|
rs1226944672
|
0.00001
|
NM_201596.3(CACNB2):c.1959C>T (p.Asn653=)
|
rs1414134597
|
0.00001
|
NM_201596.3(CACNB2):c.214-60939T>C
|
rs2041210717
|
0.00001
|
NM_201596.3(CACNB2):c.214-6C>T
|
rs864622500
|
0.00001
|
NM_201596.3(CACNB2):c.219G>A (p.Ser73=)
|
rs779134360
|
0.00001
|
NM_201596.3(CACNB2):c.246C>G (p.Ser82=)
|
rs758349246
|
0.00001
|
NM_201596.3(CACNB2):c.287G>T (p.Arg96Leu)
|
rs776194653
|
0.00001
|
NM_201596.3(CACNB2):c.339G>A (p.Lys113=)
|
rs748906162
|
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.360G>A (p.Arg120=)
|
rs775896337
|
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.457-15T>C
|
rs550954203
|
0.00001
|
NM_201596.3(CACNB2):c.492A>G (p.Val164=)
|
rs748311933
|
0.00001
|
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)
|
rs773215003
|
0.00001
|
NM_201596.3(CACNB2):c.510C>T (p.Ile170=)
|
rs760606646
|
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.663A>G (p.Pro221=)
|
rs1213446253
|
0.00001
|
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu)
|
rs761542420
|
0.00001
|
NM_201596.3(CACNB2):c.670+19C>T
|
rs372107996
|
0.00001
|
NM_201596.3(CACNB2):c.670+9G>A
|
rs767064261
|
0.00001
|
NM_201596.3(CACNB2):c.671-4A>G
|
rs1479958358
|
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.762G>A (p.Thr254=)
|
rs1212860668
|
0.00001
|
NM_201596.3(CACNB2):c.805-10C>G
|
rs770103856
|
0.00001
|
NM_201596.3(CACNB2):c.805-4G>A
|
rs200654601
|
0.00001
|
NM_201596.3(CACNB2):c.822G>A (p.Pro274=)
|
rs199908591
|
0.00001
|
NM_201596.3(CACNB2):c.825T>C (p.Tyr275=)
|
rs1294783650
|
0.00001
|
NM_201596.3(CACNB2):c.908C>T (p.Ala303Val)
|
rs1444302148
|
0.00001
|
NM_201596.3(CACNB2):c.909G>A (p.Ala303=)
|
rs144509796
|
0.00001
|
NM_201596.3(CACNB2):c.944+20G>A
|
rs760513979
|
0.00001
|
NM_201596.3(CACNB2):c.945-9C>T
|
rs1299127347
|
0.00001
|
NM_201596.3(CACNB2):c.977C>T (p.Ser326Leu)
|
rs763712135
|
0.00001
|
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
|
|
|
NM_201590.2(CACNB2):c.1328del
|
rs2053907285
|
|
NM_201590.3(CACNB2):c.12A>G (p.Arg4=)
|
rs2132070371
|
|
NM_201590.3(CACNB2):c.13C>T (p.Arg5Cys)
|
|
|
NM_201590.3(CACNB2):c.15C>A (p.Arg5=)
|
rs2132070434
|
|
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.32C>T (p.Thr11Ile)
|
rs587777742
|
|
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.*35del
|
rs34022725
|
|
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.1041A>C (p.Thr347=)
|
|
|
NM_201596.3(CACNB2):c.1049G>C (p.Ser350Thr)
|
rs1348268646
|
|
NM_201596.3(CACNB2):c.1054+7C>A
|
rs4314963
|
|
NM_201596.3(CACNB2):c.1055-10C>G
|
|
|
NM_201596.3(CACNB2):c.1055-16G>A
|
|
|
NM_201596.3(CACNB2):c.1055-1G>A
|
rs2053323477
|
|
NM_201596.3(CACNB2):c.1055-20A>C
|
|
|
NM_201596.3(CACNB2):c.1055-7T>C
|
rs201997903
|
|
NM_201596.3(CACNB2):c.1058_1060dup (p.Glu353dup)
|
rs2053324063
|
|
NM_201596.3(CACNB2):c.1063C>T (p.Gln355Ter)
|
|
|
NM_201596.3(CACNB2):c.1074C>A (p.Ile358=)
|
|
|
NM_201596.3(CACNB2):c.1090C>T (p.Leu364Phe)
|
rs2053326547
|
|
NM_201596.3(CACNB2):c.1093G>A (p.Ala365Thr)
|
|
|
NM_201596.3(CACNB2):c.1102T>C (p.Leu368=)
|
|
|
NM_201596.3(CACNB2):c.1105C>A (p.Gln369Lys)
|
|
|
NM_201596.3(CACNB2):c.1108T>C (p.Leu370=)
|
|
|
NM_201596.3(CACNB2):c.1110G>A (p.Leu370=)
|
rs1445836944
|
|
NM_201596.3(CACNB2):c.1112T>C (p.Val371Ala)
|
|
|
NM_201596.3(CACNB2):c.1125G>A (p.Ala375=)
|
|
|
NM_201596.3(CACNB2):c.1128T>C (p.Asp376=)
|
|
|
NM_201596.3(CACNB2):c.1130_1153del (p.Thr377_Leu384del)
|
|
|
NM_201596.3(CACNB2):c.1131A>G (p.Thr377=)
|
|
|
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.1161C>A (p.Thr387=)
|
|
|
NM_201596.3(CACNB2):c.1177A>G (p.Ile393Val)
|
|
|
NM_201596.3(CACNB2):c.1178T>G (p.Ile393Arg)
|
rs139749312
|
|
NM_201596.3(CACNB2):c.1182A>G (p.Val394=)
|
|
|
NM_201596.3(CACNB2):c.1185T>C (p.Tyr395=)
|
|
|
NM_201596.3(CACNB2):c.1197T>C (p.Ser399=)
|
|
|
NM_201596.3(CACNB2):c.120+379A>G
|
|
|
NM_201596.3(CACNB2):c.1203T>C (p.Pro401=)
|
|
|
NM_201596.3(CACNB2):c.1206+22del
|
|
|
NM_201596.3(CACNB2):c.1206+4_1206+7dup
|
rs1456201116
|
|
NM_201596.3(CACNB2):c.1206+5G>A
|
rs2133284616
|
|
NM_201596.3(CACNB2):c.1207-18A>C
|
|
|
NM_201596.3(CACNB2):c.1207-19A>T
|
|
|
NM_201596.3(CACNB2):c.1207-7T>C
|
rs1589754337
|
|
NM_201596.3(CACNB2):c.121-2A>T
|
rs750396182
|
|
NM_201596.3(CACNB2):c.121-9_121-3del
|
rs71402148
|
|
NM_201596.3(CACNB2):c.1232G>A (p.Arg411Gln)
|
rs763862968
|
|
NM_201596.3(CACNB2):c.1252C>T (p.His418Tyr)
|
|
|
NM_201596.3(CACNB2):c.1257C>T (p.Leu419=)
|
|
|
NM_201596.3(CACNB2):c.1281T>C (p.Asp427=)
|
|
|
NM_201596.3(CACNB2):c.1288G>T (p.Ala430Ser)
|
rs2053550331
|
|
NM_201596.3(CACNB2):c.1290T>C (p.Ala430=)
|
|
|
NM_201596.3(CACNB2):c.1293G>C (p.Gln431His)
|
rs148414498
|
|
NM_201596.3(CACNB2):c.1296T>C (p.Cys432=)
|
|
|
NM_201596.3(CACNB2):c.1297_1298delinsGT (p.Pro433Val)
|
|
|
NM_201596.3(CACNB2):c.1300C>T (p.Pro434Ser)
|
rs2053551297
|
|
NM_201596.3(CACNB2):c.1302+11T>G
|
|
|
NM_201596.3(CACNB2):c.1302+12C>G
|
rs751318399
|
|
NM_201596.3(CACNB2):c.1302+12_1302+16dup
|
|
|
NM_201596.3(CACNB2):c.1302+13T>A
|
|
|
NM_201596.3(CACNB2):c.1302+15_1302+18del
|
rs1064795398
|
|
NM_201596.3(CACNB2):c.1302+7T>C
|
rs762745373
|
|
NM_201596.3(CACNB2):c.1302A>G (p.Pro434=)
|
rs775556040
|
|
NM_201596.3(CACNB2):c.1303-18G>C
|
|
|
NM_201596.3(CACNB2):c.1303-19G>A
|
rs760174810
|
|
NM_201596.3(CACNB2):c.1303-3C>T
|
|
|
NM_201596.3(CACNB2):c.1303G>C (p.Glu435Gln)
|
rs1554842171
|
|
NM_201596.3(CACNB2):c.1308G>C (p.Leu436=)
|
|
|
NM_201596.3(CACNB2):c.1312G>A (p.Asp438Asn)
|
|
|
NM_201596.3(CACNB2):c.1312G>C (p.Asp438His)
|
|
|
NM_201596.3(CACNB2):c.1314T>C (p.Asp438=)
|
rs878855310
|
|
NM_201596.3(CACNB2):c.1368T>C (p.Tyr456=)
|
|
|
NM_201596.3(CACNB2):c.1371G>A (p.Leu457=)
|
|
|
NM_201596.3(CACNB2):c.1377C>G (p.Ala459=)
|
|
|
NM_201596.3(CACNB2):c.1389C>A (p.Ala463=)
|
rs1554842250
|
|
NM_201596.3(CACNB2):c.1390A>T (p.Thr464Ser)
|
rs1589770075
|
|
NM_201596.3(CACNB2):c.1392C>G (p.Thr464=)
|
rs2133324622
|
|
NM_201596.3(CACNB2):c.1396C>G (p.Pro466Ala)
|
rs1164299168
|
|
NM_201596.3(CACNB2):c.1404C>T (p.Ser468=)
|
|
|
NM_201596.3(CACNB2):c.1432C>G (p.Arg478Gly)
|
|
|
NM_201596.3(CACNB2):c.1432C>T (p.Arg478Cys)
|
rs551742573
|
|
NM_201596.3(CACNB2):c.1434T>C (p.Arg478=)
|
|
|
NM_201596.3(CACNB2):c.1436C>A (p.Thr479Lys)
|
rs750709385
|
|
NM_201596.3(CACNB2):c.1449A>C (p.Ser483=)
|
rs749495750
|
|
NM_201596.3(CACNB2):c.1459C>G (p.Leu487Val)
|
rs2133325170
|
|
NM_201596.3(CACNB2):c.1461T>C (p.Leu487=)
|
|
|
NM_201596.3(CACNB2):c.1467C>T (p.Pro489=)
|
|
|
NM_201596.3(CACNB2):c.1468A>G (p.Thr490Ala)
|
|
|
NM_201596.3(CACNB2):c.1474G>C (p.Ala492Pro)
|
|
|
NM_201596.3(CACNB2):c.1476C>T (p.Ala492=)
|
rs2133325408
|
|
NM_201596.3(CACNB2):c.1479T>C (p.Ser493=)
|
|
|
NM_201596.3(CACNB2):c.1488+14T>A
|
|
|
NM_201596.3(CACNB2):c.1488+14T>G
|
rs200067825
|
|
NM_201596.3(CACNB2):c.1488+15TA[5]
|
|
|
NM_201596.3(CACNB2):c.1488+17T>C
|
|
|
NM_201596.3(CACNB2):c.1489-11T>C
|
|
|
NM_201596.3(CACNB2):c.1489-1G>T
|
rs2133332957
|
|
NM_201596.3(CACNB2):c.1489-4C>G
|
|
|
NM_201596.3(CACNB2):c.1489-8G>C
|
rs557859826
|
|
NM_201596.3(CACNB2):c.1489G>A (p.Gly497Ser)
|
|
|
NM_201596.3(CACNB2):c.1492T>G (p.Ser498Ala)
|
rs886046884
|
|
NM_201596.3(CACNB2):c.1503T>C (p.Asp501=)
|
|
|
NM_201596.3(CACNB2):c.1517_1518delinsAT (p.Arg506His)
|
rs2133333288
|
|
NM_201596.3(CACNB2):c.1521C>A (p.Ser507=)
|
rs143060134
|
|
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=)
|
rs143060134
|
|
NM_201596.3(CACNB2):c.1528A>G (p.Ile510Val)
|
|
|
NM_201596.3(CACNB2):c.1530C>T (p.Ile510=)
|
|
|
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.1551A>G (p.Glu517=)
|
|
|
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.1602C>T (p.Ser534=)
|
|
|
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu)
|
rs121917812
|
|
NM_201596.3(CACNB2):c.1607C>G (p.Ala536Gly)
|
|
|
NM_201596.3(CACNB2):c.1624C>T (p.Arg542Cys)
|
rs750387227
|
|
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.1641C>T (p.Arg547=)
|
|
|
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.1670C>G (p.Ser557Trp)
|
rs137886839
|
|
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)
|
rs137886839
|
|
NM_201596.3(CACNB2):c.1682A>G (p.Glu561Gly)
|
rs2133335003
|
|
NM_201596.3(CACNB2):c.1683G>T (p.Glu561Asp)
|
|
|
NM_201596.3(CACNB2):c.1687C>A (p.Arg563=)
|
rs760811952
|
|
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
|
|
NM_201596.3(CACNB2):c.1715A>T (p.Glu572Val)
|
|
|
NM_201596.3(CACNB2):c.1718A>C (p.Asp573Ala)
|
rs773534767
|
|
NM_201596.3(CACNB2):c.1726C>T (p.His576Tyr)
|
|
|
NM_201596.3(CACNB2):c.1727_1756del (p.His576_His585del)
|
|
|
NM_201596.3(CACNB2):c.1731C>T (p.Asp577=)
|
|
|
NM_201596.3(CACNB2):c.1734C>T (p.His578=)
|
rs1209281848
|
|
NM_201596.3(CACNB2):c.1744T>C (p.Tyr582His)
|
|
|
NM_201596.3(CACNB2):c.1744_1764del (p.Tyr582_His588del)
|
rs2053933206
|
|
NM_201596.3(CACNB2):c.1748C>T (p.Ala583Val)
|
|
|
NM_201596.3(CACNB2):c.1752A>C (p.Ser584=)
|
|
|
NM_201596.3(CACNB2):c.1752A>G (p.Ser584=)
|
|
|
NM_201596.3(CACNB2):c.1753C>G (p.His585Asp)
|
|
|
NM_201596.3(CACNB2):c.1754A>G (p.His585Arg)
|
rs1412805204
|
|
NM_201596.3(CACNB2):c.1755C>T (p.His585=)
|
rs761097064
|
|
NM_201596.3(CACNB2):c.1757G>T (p.Arg586Leu)
|
rs747168096
|
|
NM_201596.3(CACNB2):c.1764C>T (p.His588=)
|
rs1280807136
|
|
NM_201596.3(CACNB2):c.1767C>G (p.Asn589Lys)
|
|
|
NM_201596.3(CACNB2):c.1776C>G (p.Asp592Glu)
|
rs144182966
|
|
NM_201596.3(CACNB2):c.1776C>T (p.Asp592=)
|
rs144182966
|
|
NM_201596.3(CACNB2):c.1777G>A (p.Glu593Lys)
|
|
|
NM_201596.3(CACNB2):c.1782C>T (p.Thr594=)
|
|
|
NM_201596.3(CACNB2):c.1793G>C (p.Ser598Thr)
|
|
|
NM_201596.3(CACNB2):c.1806C>T (p.His602=)
|
rs1472987021
|
|
NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly)
|
rs61733968
|
|
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)
|
rs61733968
|
|
NM_201596.3(CACNB2):c.1817G>A (p.Arg606Gln)
|
|
|
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro)
|
rs577739840
|
|
NM_201596.3(CACNB2):c.1818_1823del (p.His607_Arg608del)
|
rs1231423069
|
|
NM_201596.3(CACNB2):c.1822_1833dup (p.Arg608_Asp611dup)
|
rs2053942119
|
|
NM_201596.3(CACNB2):c.1823G>T (p.Arg608Leu)
|
|
|
NM_201596.3(CACNB2):c.1831G>A (p.Asp611Asn)
|
rs1239176754
|
|
NM_201596.3(CACNB2):c.1844A>C (p.Glu615Ala)
|
rs1564678668
|
|
NM_201596.3(CACNB2):c.1851C>T (p.Asp617=)
|
|
|
NM_201596.3(CACNB2):c.1851_1859dup (p.Asp617_Asn619dup)
|
rs1554843116
|
|
NM_201596.3(CACNB2):c.1855_1857del (p.Asn619del)
|
|
|
NM_201596.3(CACNB2):c.1875C>G (p.Arg625=)
|
rs2133337346
|
|
NM_201596.3(CACNB2):c.1885A>G (p.Lys629Glu)
|
rs1554843156
|
|
NM_201596.3(CACNB2):c.1897C>T (p.Arg633Cys)
|
rs746092806
|
|
NM_201596.3(CACNB2):c.1899C>A (p.Arg633=)
|
rs2133337689
|
|
NM_201596.3(CACNB2):c.1903T>C (p.Cys635Arg)
|
rs1443093872
|
|
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs)
|
rs750015594
|
|
NM_201596.3(CACNB2):c.1913A>G (p.Asp638Gly)
|
rs372277783
|
|
NM_201596.3(CACNB2):c.1914T>C (p.Asp638=)
|
rs1554843214
|
|
NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642delinsLysTer)
|
|
|
NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr)
|
rs1554843232
|
|
NM_201596.3(CACNB2):c.1927_1929dup (p.Ser643_Lys644insSer)
|
|
|
NM_201596.3(CACNB2):c.1934A>G (p.Lys645Arg)
|
|
|
NM_201596.3(CACNB2):c.1935A>G (p.Lys645=)
|
rs772752419
|
|
NM_201596.3(CACNB2):c.1950G>A (p.Gly650=)
|
rs764738610
|
|
NM_201596.3(CACNB2):c.1959C>G (p.Asn653Lys)
|
rs1414134597
|
|
NM_201596.3(CACNB2):c.1960_1970dup (p.Tyr657Ter)
|
|
|
NM_201596.3(CACNB2):c.1962G>A (p.Arg654=)
|
|
|
NM_201596.3(CACNB2):c.1962G>T (p.Arg654Ser)
|
rs915270594
|
|
NM_201596.3(CACNB2):c.1964A>T (p.Asp655Val)
|
|
|
NM_201596.3(CACNB2):c.1965T>C (p.Asp655=)
|
rs58225473
|
|
NM_201596.3(CACNB2):c.1976G>A (p.Arg659His)
|
|
|
NM_201596.3(CACNB2):c.214-10T>C
|
|
|
NM_201596.3(CACNB2):c.214-15C>T
|
|
|
NM_201596.3(CACNB2):c.214-18G>A
|
rs2132535749
|
|
NM_201596.3(CACNB2):c.214-20A>G
|
|
|
NM_201596.3(CACNB2):c.214-4C>A
|
rs2132535929
|
|
NM_201596.3(CACNB2):c.214-60936G>C
|
rs778210303
|
|
NM_201596.3(CACNB2):c.214-60937C>G
|
rs753309815
|
|
NM_201596.3(CACNB2):c.214-60937C>T
|
rs753309815
|
|
NM_201596.3(CACNB2):c.214-60940A>G
|
rs2041210598
|
|
NM_201596.3(CACNB2):c.219G>C (p.Ser73=)
|
rs779134360
|
|
NM_201596.3(CACNB2):c.252C>T (p.Ser84=)
|
|
|
NM_201596.3(CACNB2):c.273C>T (p.Asp91=)
|
|
|
NM_201596.3(CACNB2):c.278A>C (p.Glu93Ala)
|
rs2132536672
|
|
NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr)
|
rs1564509094
|
|
NM_201596.3(CACNB2):c.297G>C (p.Ala99=)
|
|
|
NM_201596.3(CACNB2):c.301C>A (p.Arg101=)
|
rs1357911128
|
|
NM_201596.3(CACNB2):c.305A>G (p.Gln102Arg)
|
rs1368397195
|
|
NM_201596.3(CACNB2):c.313G>A (p.Ala105Thr)
|
rs773650491
|
|
NM_201596.3(CACNB2):c.318G>A (p.Gln106=)
|
|
|
NM_201596.3(CACNB2):c.321G>A (p.Leu107=)
|
|
|
NM_201596.3(CACNB2):c.328G>A (p.Ala110Thr)
|
rs765424880
|
|
NM_201596.3(CACNB2):c.330A>G (p.Ala110=)
|
|
|
NM_201596.3(CACNB2):c.333+14C>T
|
|
|
NM_201596.3(CACNB2):c.333+20G>A
|
|
|
NM_201596.3(CACNB2):c.333+9G>C
|
rs752760931
|
|
NM_201596.3(CACNB2):c.334-18T>C
|
|
|
NM_201596.3(CACNB2):c.334-5T>G
|
rs2049964286
|
|
NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser)
|
rs768218683
|
|
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile)
|
rs747480172
|
|
NM_201596.3(CACNB2):c.347C>T (p.Ala116Val)
|
rs1423731870
|
|
NM_201596.3(CACNB2):c.354G>T (p.Ala118=)
|
rs182163363
|
|
NM_201596.3(CACNB2):c.355G>C (p.Val119Leu)
|
|
|
NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)
|
rs202220375
|
|
NM_201596.3(CACNB2):c.367G>A (p.Val123Ile)
|
rs1488807984
|
|
NM_201596.3(CACNB2):c.377G>T (p.Ser126Ile)
|
rs553297982
|
|
NM_201596.3(CACNB2):c.383C>T (p.Ala128Val)
|
rs376636577
|
|
NM_201596.3(CACNB2):c.392A>G (p.Asp131Gly)
|
rs2133011061
|
|
NM_201596.3(CACNB2):c.392ATG[3] (p.Asp132dup)
|
rs2049969382
|
|
NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr)
|
rs1317419789
|
|
NM_201596.3(CACNB2):c.3G>A (p.Met1Ile)
|
|
|
NM_201596.3(CACNB2):c.400C>G (p.Pro134Ala)
|
|
|
NM_201596.3(CACNB2):c.405G>C (p.Val135=)
|
|
|
NM_201596.3(CACNB2):c.410G>C (p.Gly137Ala)
|
rs754596850
|
|
NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser)
|
rs886039055
|
|
NM_201596.3(CACNB2):c.432A>G (p.Ala144=)
|
|
|
NM_201596.3(CACNB2):c.437A>G (p.Asp146Gly)
|
rs1554831392
|
|
NM_201596.3(CACNB2):c.441T>C (p.Phe147=)
|
|
|
NM_201596.3(CACNB2):c.442C>G (p.Leu148Val)
|
rs1554831400
|
|
NM_201596.3(CACNB2):c.445C>T (p.His149Tyr)
|
rs2049973374
|
|
NM_201596.3(CACNB2):c.446A>C (p.His149Pro)
|
rs2049973507
|
|
NM_201596.3(CACNB2):c.456+10A>G
|
|
|
NM_201596.3(CACNB2):c.456+24_456+25insTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAATAATTTCATTTTCT
|
|
|
NM_201596.3(CACNB2):c.457-17T>A
|
|
|
NM_201596.3(CACNB2):c.457-17T>G
|
rs4485000
|
|
NM_201596.3(CACNB2):c.457-20G>A
|
|
|
NM_201596.3(CACNB2):c.467A>G (p.Asn156Ser)
|
|
|
NM_201596.3(CACNB2):c.485G>T (p.Arg162Leu)
|
rs144461906
|
|
NM_201596.3(CACNB2):c.487T>C (p.Leu163=)
|
|
|
NM_201596.3(CACNB2):c.489G>A (p.Leu163=)
|
|
|
NM_201596.3(CACNB2):c.493A>G (p.Lys165Glu)
|
|
|
NM_201596.3(CACNB2):c.524G>A (p.Ser175Asn)
|
|
|
NM_201596.3(CACNB2):c.566G>T (p.Arg189Ile)
|
|
|
NM_201596.3(CACNB2):c.567A>G (p.Arg189=)
|
|
|
NM_201596.3(CACNB2):c.570C>T (p.Ala190=)
|
|
|
NM_201596.3(CACNB2):c.585C>G (p.Phe195Leu)
|
|
|
NM_201596.3(CACNB2):c.593+4T>C
|
|
|
NM_201596.3(CACNB2):c.594-12G>A
|
|
|
NM_201596.3(CACNB2):c.594-17T>G
|
rs1214022119
|
|
NM_201596.3(CACNB2):c.594-4C>G
|
rs931745771
|
|
NM_201596.3(CACNB2):c.594-4C>T
|
rs931745771
|
|
NM_201596.3(CACNB2):c.594T>G (p.Ser198Arg)
|
|
|
NM_201596.3(CACNB2):c.600A>G (p.Ser200=)
|
|
|
NM_201596.3(CACNB2):c.622T>C (p.Leu208=)
|
rs538160664
|
|
NM_201596.3(CACNB2):c.622T>G (p.Leu208Val)
|
rs538160664
|
|
NM_201596.3(CACNB2):c.641G>A (p.Ser214Asn)
|
|
|
NM_201596.3(CACNB2):c.644C>A (p.Ser215Tyr)
|
|
|
NM_201596.3(CACNB2):c.645C>T (p.Ser215=)
|
rs535169510
|
|
NM_201596.3(CACNB2):c.652T>G (p.Ser218Ala)
|
rs774211226
|
|
NM_201596.3(CACNB2):c.667T>A (p.Ser223Thr)
|
rs1564629335
|
|
NM_201596.3(CACNB2):c.670+16A>G
|
|
|
NM_201596.3(CACNB2):c.670+8G>C
|
|
|
NM_201596.3(CACNB2):c.671-6A>G
|
|
|
NM_201596.3(CACNB2):c.674T>C (p.Ile225Thr)
|
rs772796787
|
|
NM_201596.3(CACNB2):c.682G>T (p.Asp228Tyr)
|
rs2133126746
|
|
NM_201596.3(CACNB2):c.699T>C (p.Asp233=)
|
rs886046883
|
|
NM_201596.3(CACNB2):c.710A>C (p.Asn237Thr)
|
rs1554835149
|
|
NM_201596.3(CACNB2):c.711T>C (p.Asn237=)
|
rs570005089
|
|
NM_201596.3(CACNB2):c.712G>A (p.Asp238Asn)
|
|
|
NM_201596.3(CACNB2):c.736C>G (p.Pro246Ala)
|
rs2051061080
|
|
NM_201596.3(CACNB2):c.743C>G (p.Pro248Arg)
|
|
|
NM_201596.3(CACNB2):c.744C>G (p.Pro248=)
|
|
|
NM_201596.3(CACNB2):c.768C>G (p.Pro256=)
|
|
|
NM_201596.3(CACNB2):c.786A>G (p.Arg262=)
|
|
|
NM_201596.3(CACNB2):c.804+17A>G
|
|
|
NM_201596.3(CACNB2):c.804+664C>T
|
|
|
NM_201596.3(CACNB2):c.805-15C>T
|
|
|
NM_201596.3(CACNB2):c.805-3C>A
|
rs764050459
|
|
NM_201596.3(CACNB2):c.805-6C>G
|
|
|
NM_201596.3(CACNB2):c.805-8C>G
|
rs2133159506
|
|
NM_201596.3(CACNB2):c.805-8C>T
|
|
|
NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu)
|
rs375425461
|
|
NM_201596.3(CACNB2):c.822G>C (p.Pro274=)
|
rs199908591
|
|
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala)
|
rs889646922
|
|
NM_201596.3(CACNB2):c.831G>T (p.Val277=)
|
|
|
NM_201596.3(CACNB2):c.856C>G (p.Leu286Val)
|
|
|
NM_201596.3(CACNB2):c.859G>C (p.Val287Leu)
|
rs1217728234
|
|
NM_201596.3(CACNB2):c.879C>T (p.Gly293=)
|
|
|
NM_201596.3(CACNB2):c.885+10A>T
|
|
|
NM_201596.3(CACNB2):c.885+20A>T
|
|
|
NM_201596.3(CACNB2):c.885+3G>A
|
|
|
NM_201596.3(CACNB2):c.885+4G>A
|
|
|
NM_201596.3(CACNB2):c.886-19_886-17del
|
|
|
NM_201596.3(CACNB2):c.886-7A>T
|
rs2051550063
|
|
NM_201596.3(CACNB2):c.895ATG[1] (p.Met300del)
|
rs2051551471
|
|
NM_201596.3(CACNB2):c.899T>A (p.Met300Lys)
|
rs1564644091
|
|
NM_201596.3(CACNB2):c.903A>G (p.Gln301=)
|
|
|
NM_201596.3(CACNB2):c.910C>G (p.Leu304Val)
|
|
|
NM_201596.3(CACNB2):c.912G>A (p.Leu304=)
|
rs1246608729
|
|
NM_201596.3(CACNB2):c.940G>A (p.Gly314Arg)
|
|
|
NM_201596.3(CACNB2):c.943C>T (p.Arg315Trp)
|
|
|
NM_201596.3(CACNB2):c.944+11C>A
|
|
|
NM_201596.3(CACNB2):c.944+12A>C
|
|
|
NM_201596.3(CACNB2):c.944+12A>G
|
rs144304963
|
|
NM_201596.3(CACNB2):c.944+12A>T
|
rs144304963
|
|
NM_201596.3(CACNB2):c.944+15A>T
|
|
|
NM_201596.3(CACNB2):c.944+3_944+6del
|
|
|
NM_201596.3(CACNB2):c.945-12T>C
|
|
|
NM_201596.3(CACNB2):c.964A>T (p.Thr322Ser)
|
rs2052608666
|
|
NM_201596.3(CACNB2):c.967G>T (p.Ala323Ser)
|
rs561197163
|
|