NM_006073.4(TRDN):c.1805-5dup
|
rs755375052
|
0.02440
|
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser)
|
rs150531306
|
0.00305
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001005242.3(PKP2):c.2168-19T>A
|
rs527736735
|
0.00203
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr)
|
rs146935076
|
0.00183
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)
|
rs140913916
|
0.00130
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_013266.4(CTNNA3):c.1936C>T (p.Arg646Cys)
|
rs111425421
|
0.00116
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
0.00104
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)
|
rs568391206
|
0.00093
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
NM_002230.4(JUP):c.2059A>G (p.Ile687Val)
|
rs138366708
|
0.00074
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001943.5(DSG2):c.216+16G>A
|
rs200239610
|
0.00073
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
NM_006073.4(TRDN):c.84C>T (p.Pro28=)
|
rs145992727
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe)
|
rs143040393
|
0.00068
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_001035.3(RYR2):c.11092-10A>T
|
rs577119352
|
0.00059
|
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys)
|
rs77165728
|
0.00058
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)
|
rs144152046
|
0.00046
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_006073.4(TRDN):c.611-19A>T
|
rs142018848
|
0.00044
|
NM_013266.4(CTNNA3):c.1132C>T (p.Arg378Cys)
|
rs187752783
|
0.00044
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
NM_006073.4(TRDN):c.546G>A (p.Lys182=)
|
rs377594350
|
0.00042
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001035.3(RYR2):c.273+18G>A
|
rs371912039
|
0.00041
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001943.5(DSG2):c.121C>A (p.His41Asn)
|
rs201499704
|
0.00039
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val)
|
rs147512481
|
0.00038
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp)
|
rs200264407
|
0.00038
|
NM_004415.4(DSP):c.6296C>T (p.Pro2099Leu)
|
rs201625698
|
0.00038
|
NM_006073.4(TRDN):c.1538-19T>A
|
rs142237914
|
0.00038
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu)
|
rs144263721
|
0.00036
|
NM_004415.4(DSP):c.8199G>C (p.Thr2733=)
|
rs145085696
|
0.00036
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)
|
rs142362933
|
0.00034
|
NM_001035.3(RYR2):c.463+6dup
|
rs397516534
|
0.00034
|
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys)
|
rs377473366
|
0.00034
|
NM_001943.5(DSG2):c.829-19_829-18del
|
rs111241096
|
0.00034
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)
|
rs200643387
|
0.00033
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_004415.4(DSP):c.6295C>A (p.Pro2099Thr)
|
rs200752536
|
0.00033
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
NM_001232.4(CASQ2):c.320-18C>T
|
rs376871374
|
0.00032
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
NM_004415.4(DSP):c.531C>G (p.Gly177=)
|
rs138865799
|
0.00032
|
NM_024422.6(DSC2):c.1269G>A (p.Leu423=)
|
rs376049846
|
0.00032
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
NM_001035.3(RYR2):c.11646+18T>A
|
rs368433873
|
0.00031
|
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)
|
rs201829896
|
0.00031
|
NM_001035.3(RYR2):c.3067-16_3067-15del
|
rs727504453
|
0.00031
|
NM_024334.3(TMEM43):c.442+7G>A
|
rs373590238
|
0.00031
|
NM_001035.3(RYR2):c.1292+19G>A
|
rs368198276
|
0.00030
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
NM_001943.5(DSG2):c.1280+18G>C
|
rs141175168
|
0.00030
|
NM_004415.4(DSP):c.1574+7C>T
|
rs375717504
|
0.00030
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
NM_004415.4(DSP):c.5991G>A (p.Gly1997=)
|
rs538244495
|
0.00029
|
NM_006073.4(TRDN):c.992-17T>G
|
rs189142809
|
0.00029
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)
|
rs143718767
|
0.00028
|
NM_013266.4(CTNNA3):c.1192G>A (p.Val398Ile)
|
rs145043626
|
0.00028
|
NM_013266.4(CTNNA3):c.1937G>A (p.Arg646His)
|
rs370269225
|
0.00028
|
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser)
|
rs41313840
|
0.00028
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
NM_001005242.3(PKP2):c.696C>T (p.Asp232=)
|
rs375677250
|
0.00026
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_024422.6(DSC2):c.631-13dup
|
rs551337657
|
0.00026
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
NM_001035.3(RYR2):c.8204A>C (p.Asp2735Ala)
|
rs1213772557
|
0.00025
|
NM_002230.4(JUP):c.1910G>A (p.Arg637His)
|
rs142095597
|
0.00025
|
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)
|
rs370550974
|
0.00025
|
NM_004415.4(DSP):c.7848G>A (p.Ser2616=)
|
rs148798300
|
0.00025
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_001035.3(RYR2):c.10554+16T>C
|
rs370288739
|
0.00024
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001943.5(DSG2):c.2913T>G (p.Ala971=)
|
rs200793530
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_024422.6(DSC2):c.1520+8C>G
|
rs372979057
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
NM_006073.4(TRDN):c.1783+18G>A
|
rs374452538
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_001005242.3(PKP2):c.198G>A (p.Arg66=)
|
rs144106848
|
0.00022
|
NM_004415.4(DSP):c.422+14A>G
|
rs533188973
|
0.00022
|
NM_004415.4(DSP):c.6207C>T (p.Val2069=)
|
rs147398792
|
0.00022
|
NM_006073.4(TRDN):c.375C>T (p.Asp125=)
|
rs377440434
|
0.00022
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
NM_001035.3(RYR2):c.10143-19T>C
|
rs373127797
|
0.00021
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
NM_001035.3(RYR2):c.1477-17_1477-16insC
|
rs746069322
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
NM_001232.4(CASQ2):c.607-15T>C
|
rs138298959
|
0.00021
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
NM_024422.6(DSC2):c.2546A>C (p.His849Pro)
|
rs184487763
|
0.00021
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)
|
rs374019555
|
0.00020
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
NM_002230.4(JUP):c.258G>A (p.Arg86=)
|
rs147159111
|
0.00020
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00019
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=)
|
rs137999497
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
NM_013266.4(CTNNA3):c.1282-18T>C
|
rs374341741
|
0.00019
|
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)
|
rs942040362
|
0.00018
|
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)
|
rs727505215
|
0.00018
|
NM_001035.3(RYR2):c.3408C>A (p.Ala1136=)
|
rs371248758
|
0.00018
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=)
|
rs138580439
|
0.00018
|
NM_013266.4(CTNNA3):c.2378G>A (p.Gly793Glu)
|
rs188248522
|
0.00018
|
NM_024422.6(DSC2):c.135C>T (p.Ala45=)
|
rs749323567
|
0.00018
|
NM_001035.3(RYR2):c.4761C>T (p.His1587=)
|
rs369612535
|
0.00017
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_002230.4(JUP):c.1296C>T (p.Asn432=)
|
rs544224850
|
0.00017
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
NM_004415.4(DSP):c.3153C>T (p.Asn1051=)
|
rs563387839
|
0.00017
|
NM_006073.4(TRDN):c.1215A>G (p.Glu405=)
|
rs939674538
|
0.00017
|
NM_024334.3(TMEM43):c.443-9C>T
|
rs371866082
|
0.00017
|
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)
|
rs730880179
|
0.00016
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=)
|
rs200921429
|
0.00016
|
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=)
|
rs763801208
|
0.00016
|
NM_001232.4(CASQ2):c.177G>A (p.Pro59=)
|
rs371260149
|
0.00016
|
NM_001943.5(DSG2):c.783T>A (p.Arg261=)
|
rs369869320
|
0.00016
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
NM_002230.4(JUP):c.1924+8G>C
|
rs730880115
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
NM_004415.4(DSP):c.7599T>C (p.Ala2533=)
|
rs374266378
|
0.00016
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
NM_013266.4(CTNNA3):c.718A>G (p.Thr240Ala)
|
rs367570454
|
0.00016
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
NM_001005242.3(PKP2):c.2301C>T (p.Arg767=)
|
rs369166666
|
0.00015
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_001005242.3(PKP2):c.1171-17A>G
|
rs372942306
|
0.00014
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)
|
rs563219502
|
0.00014
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
NM_001035.3(RYR2):c.8830+17C>T
|
rs1042309310
|
0.00014
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
NM_002230.4(JUP):c.708-4C>G
|
rs201313464
|
0.00014
|
NM_002230.4(JUP):c.801C>T (p.Ala267=)
|
rs138397457
|
0.00014
|
NM_002230.4(JUP):c.84G>A (p.Ser28=)
|
rs144137028
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_004415.4(DSP):c.6192T>C (p.Asn2064=)
|
rs371230455
|
0.00014
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
NM_013266.4(CTNNA3):c.1374+10C>T
|
rs375506184
|
0.00014
|
NM_013266.4(CTNNA3):c.1848A>T (p.Thr616=)
|
rs182490263
|
0.00014
|
NM_013266.4(CTNNA3):c.768A>G (p.Ser256=)
|
rs140926333
|
0.00014
|
NM_024334.3(TMEM43):c.864C>T (p.His288=)
|
rs377585035
|
0.00014
|
NM_024422.6(DSC2):c.2226A>G (p.Thr742=)
|
rs142807209
|
0.00014
|
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)
|
rs138901574
|
0.00013
|
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
|
rs370924416
|
0.00013
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001035.3(RYR2):c.3951G>A (p.Thr1317=)
|
rs372097270
|
0.00013
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)
|
rs182038403
|
0.00013
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
NM_001232.4(CASQ2):c.533-6C>T
|
rs545407254
|
0.00013
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_004415.4(DSP):c.4386C>T (p.Ser1462=)
|
rs149981214
|
0.00013
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn)
|
rs140193292
|
0.00012
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)
|
rs202049575
|
0.00012
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
NM_006073.4(TRDN):c.300G>A (p.Thr100=)
|
rs377393927
|
0.00012
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)
|
rs577371071
|
0.00011
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
NM_001035.3(RYR2):c.402C>T (p.Ser134=)
|
rs776832019
|
0.00011
|
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)
|
rs369982130
|
0.00011
|
NM_001035.3(RYR2):c.7099G>A (p.Gly2367Arg)
|
rs369152386
|
0.00011
|
NM_001035.3(RYR2):c.8208+15A>G
|
rs142975943
|
0.00011
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001232.4(CASQ2):c.540G>A (p.Lys180=)
|
rs72554057
|
0.00011
|
NM_001943.5(DSG2):c.1299T>C (p.Asp433=)
|
rs367548984
|
0.00011
|
NM_002230.4(JUP):c.1159-20G>A
|
rs782463183
|
0.00011
|
NM_002230.4(JUP):c.1989C>T (p.Arg663=)
|
rs145175985
|
0.00011
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
NM_004415.4(DSP):c.237C>T (p.Ser79=)
|
rs146521568
|
0.00011
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004415.4(DSP):c.6360C>T (p.Thr2120=)
|
rs374252141
|
0.00011
|
NM_004415.4(DSP):c.6753G>A (p.Lys2251=)
|
rs750294829
|
0.00011
|
NM_004415.4(DSP):c.816G>A (p.Leu272=)
|
rs376184294
|
0.00011
|
NM_006073.4(TRDN):c.129G>A (p.Thr43=)
|
rs373840513
|
0.00011
|
NM_006073.4(TRDN):c.23-19T>G
|
rs370102595
|
0.00011
|
NM_006073.4(TRDN):c.510A>G (p.Gly170=)
|
rs773658957
|
0.00011
|
NM_013266.4(CTNNA3):c.1692G>A (p.Thr564=)
|
rs138798862
|
0.00011
|
NM_013266.4(CTNNA3):c.1732+8A>G
|
rs372686443
|
0.00011
|
NM_024334.3(TMEM43):c.429G>A (p.Thr143=)
|
rs201217046
|
0.00011
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
NM_024422.6(DSC2):c.630+8C>T
|
rs201147144
|
0.00011
|
NM_001005242.3(PKP2):c.45C>T (p.Thr15=)
|
rs759214983
|
0.00010
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)
|
rs368103385
|
0.00010
|
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)
|
rs376908332
|
0.00010
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_001035.3(RYR2):c.9068-20G>T
|
rs766109127
|
0.00010
|
NM_001035.3(RYR2):c.9368-12C>T
|
rs559526695
|
0.00010
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
NM_001943.5(DSG2):c.523+20T>C
|
rs775127367
|
0.00010
|
NM_002230.4(JUP):c.1654-7C>T
|
rs1395283149
|
0.00010
|
NM_002230.4(JUP):c.707+20G>A
|
rs782523305
|
0.00010
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_004415.4(DSP):c.4780C>T (p.Leu1594=)
|
rs149463707
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_004415.4(DSP):c.8493G>C (p.Ser2831=)
|
rs397516969
|
0.00010
|
NM_004415.4(DSP):c.987G>A (p.Leu329=)
|
rs564435126
|
0.00010
|
NM_013266.4(CTNNA3):c.1850T>C (p.Ile617Thr)
|
rs190239785
|
0.00010
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
NM_001005242.3(PKP2):c.1379-2065G>A
|
rs771856087
|
0.00009
|
NM_001005242.3(PKP2):c.996G>A (p.Leu332=)
|
rs144574595
|
0.00009
|
NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr)
|
rs747622318
|
0.00009
|
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)
|
rs755065507
|
0.00009
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
NM_001035.3(RYR2):c.4800C>T (p.Pro1600=)
|
rs546340378
|
0.00009
|
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)
|
rs199893812
|
0.00009
|
NM_001035.3(RYR2):c.639C>T (p.Ser213=)
|
rs375180398
|
0.00009
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
NM_001035.3(RYR2):c.7083T>C (p.Gly2361=)
|
rs749474378
|
0.00009
|
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)
|
rs369774984
|
0.00009
|
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=)
|
rs201082550
|
0.00009
|
NM_001035.3(RYR2):c.9129-9A>G
|
rs992812963
|
0.00009
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_004415.4(DSP):c.3096C>T (p.Thr1032=)
|
rs139199849
|
0.00009
|
NM_004415.4(DSP):c.3981C>T (p.Ile1327=)
|
rs397516934
|
0.00009
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr)
|
rs191778417
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
NM_004415.4(DSP):c.5796C>G (p.Arg1932=)
|
rs148845182
|
0.00009
|
NM_004415.4(DSP):c.7077C>T (p.Ile2359=)
|
rs966841386
|
0.00009
|
NM_006073.4(TRDN):c.1951+15C>T
|
rs370036052
|
0.00009
|
NM_006073.4(TRDN):c.932-11G>T
|
rs954424960
|
0.00009
|
NM_013266.4(CTNNA3):c.1978-9_1978-8del
|
rs750667259
|
0.00009
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
NM_024422.6(DSC2):c.951C>T (p.Asp317=)
|
rs749810775
|
0.00009
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
NM_001005242.3(PKP2):c.888C>T (p.His296=)
|
rs397517029
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001035.3(RYR2):c.11092-11T>A
|
rs1040339463
|
0.00008
|
NM_001035.3(RYR2):c.11151A>G (p.Lys3717=)
|
rs748235560
|
0.00008
|
NM_001035.3(RYR2):c.13080C>T (p.Ser4360=)
|
rs369964660
|
0.00008
|
NM_001035.3(RYR2):c.13329-11T>G
|
rs778172821
|
0.00008
|
NM_001035.3(RYR2):c.13695C>T (p.Ser4565=)
|
rs377503418
|
0.00008
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)
|
rs759494098
|
0.00008
|
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)
|
rs376792533
|
0.00008
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
NM_001035.3(RYR2):c.5790T>C (p.Asp1930=)
|
rs764867305
|
0.00008
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)
|
rs1032783973
|
0.00008
|
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)
|
rs746161154
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=)
|
rs368661838
|
0.00008
|
NM_001232.4(CASQ2):c.855G>C (p.Leu285=)
|
rs148562107
|
0.00008
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
NM_002230.4(JUP):c.891C>T (p.Tyr297=)
|
rs397517302
|
0.00008
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00008
|
NM_004415.4(DSP):c.888C>T (p.Tyr296=)
|
rs149701627
|
0.00008
|
NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu)
|
rs375091695
|
0.00008
|
NM_006073.4(TRDN):c.1952-8C>T
|
rs188767077
|
0.00008
|
NM_013266.4(CTNNA3):c.1450C>T (p.Arg484Cys)
|
rs200182913
|
0.00008
|
NM_024334.3(TMEM43):c.1089C>T (p.Thr363=)
|
rs145094507
|
0.00008
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
NM_001005242.3(PKP2):c.927C>T (p.Ala309=)
|
rs200152448
|
0.00007
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
NM_001035.3(RYR2):c.12291C>T (p.Asn4097=)
|
rs377313490
|
0.00007
|
NM_001035.3(RYR2):c.1491C>T (p.Leu497=)
|
rs774279425
|
0.00007
|
NM_001035.3(RYR2):c.51T>C (p.Asp17=)
|
rs373674802
|
0.00007
|
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)
|
rs191850147
|
0.00007
|
NM_001035.3(RYR2):c.8830+19T>C
|
rs770534794
|
0.00007
|
NM_001232.4(CASQ2):c.532+17C>A
|
rs768587375
|
0.00007
|
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)
|
rs544981484
|
0.00007
|
NM_001943.5(DSG2):c.600C>A (p.Ile200=)
|
rs535646295
|
0.00007
|
NM_002230.4(JUP):c.2230C>T (p.Leu744=)
|
rs782069599
|
0.00007
|
NM_002230.4(JUP):c.958C>T (p.Arg320Cys)
|
rs200740462
|
0.00007
|
NM_004415.4(DSP):c.1044+10A>C
|
rs750114473
|
0.00007
|
NM_004415.4(DSP):c.1044+12G>A
|
rs775969969
|
0.00007
|
NM_004415.4(DSP):c.1839C>T (p.Thr613=)
|
rs397516921
|
0.00007
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
NM_004415.4(DSP):c.4749C>T (p.Thr1583=)
|
rs745348231
|
0.00007
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_004415.4(DSP):c.7563T>C (p.Asp2521=)
|
rs984412074
|
0.00007
|
NM_006073.4(TRDN):c.1673-8T>C
|
rs202183696
|
0.00007
|
NM_006073.4(TRDN):c.1831+12C>A
|
rs368167703
|
0.00007
|
NM_006073.4(TRDN):c.1832-4C>A
|
rs539547575
|
0.00007
|
NM_006073.4(TRDN):c.728C>T (p.Thr243Ile)
|
rs769684583
|
0.00007
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)
|
rs148364390
|
0.00006
|
NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)
|
rs750119363
|
0.00006
|
NM_001005242.3(PKP2):c.486G>A (p.Thr162=)
|
rs189040311
|
0.00006
|
NM_001005242.3(PKP2):c.900G>A (p.Thr300=)
|
rs140235564
|
0.00006
|
NM_001035.3(RYR2):c.10494+13T>G
|
rs796484463
|
0.00006
|
NM_001035.3(RYR2):c.11403-16T>C
|
rs560731755
|
0.00006
|
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)
|
rs765141566
|
0.00006
|
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=)
|
rs397516509
|
0.00006
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
NM_001035.3(RYR2):c.14310C>T (p.Thr4770=)
|
rs372967537
|
0.00006
|
NM_001035.3(RYR2):c.14658C>G (p.Thr4886=)
|
rs771308728
|
0.00006
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
NM_001035.3(RYR2):c.14844T>C (p.Cys4948=)
|
rs540984275
|
0.00006
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
NM_001035.3(RYR2):c.1518C>T (p.His506=)
|
rs372620246
|
0.00006
|
NM_001035.3(RYR2):c.1962-12G>A
|
rs368241264
|
0.00006
|
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)
|
rs377285489
|
0.00006
|
NM_001035.3(RYR2):c.2203+13C>T
|
rs183060058
|
0.00006
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
NM_001035.3(RYR2):c.273+12A>G
|
rs773831812
|
0.00006
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
NM_001035.3(RYR2):c.3483C>T (p.Val1161=)
|
rs777622110
|
0.00006
|
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)
|
rs751419465
|
0.00006
|
NM_001035.3(RYR2):c.4143C>T (p.Pro1381=)
|
rs762991553
|
0.00006
|
NM_001035.3(RYR2):c.4488C>T (p.Pro1496=)
|
rs370082063
|
0.00006
|
NM_001035.3(RYR2):c.4683+9A>G
|
rs368678508
|
0.00006
|
NM_001035.3(RYR2):c.5253C>T (p.Ile1751=)
|
rs745565940
|
0.00006
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
NM_001035.3(RYR2):c.5835C>T (p.Asn1945=)
|
rs189299988
|
0.00006
|
NM_001035.3(RYR2):c.5916+10T>C
|
rs372125472
|
0.00006
|
NM_001035.3(RYR2):c.6166+8G>A
|
rs373112536
|
0.00006
|
NM_001035.3(RYR2):c.7149C>T (p.His2383=)
|
rs183606632
|
0.00006
|
NM_001035.3(RYR2):c.7222-12T>C
|
rs540308433
|
0.00006
|
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=)
|
rs533068485
|
0.00006
|
NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)
|
rs547987180
|
0.00006
|
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)
|
rs727504134
|
0.00006
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
NM_001035.3(RYR2):c.9450-9C>T
|
rs752779628
|
0.00006
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
NM_001943.5(DSG2):c.1089G>A (p.Ser363=)
|
rs372598337
|
0.00006
|
NM_001943.5(DSG2):c.1491C>T (p.Pro497=)
|
rs587780928
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
NM_001943.5(DSG2):c.2001+20A>G
|
rs746383404
|
0.00006
|
NM_001943.5(DSG2):c.2085G>A (p.Thr695=)
|
rs554396523
|
0.00006
|
NM_001943.5(DSG2):c.2241C>T (p.Thr747=)
|
rs767628208
|
0.00006
|
NM_001943.5(DSG2):c.524-6T>C
|
rs755923878
|
0.00006
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
NM_002230.4(JUP):c.1713C>G (p.Ala571=)
|
rs138446862
|
0.00006
|
NM_002230.4(JUP):c.561C>T (p.Ala187=)
|
rs139552714
|
0.00006
|
NM_002230.4(JUP):c.762C>T (p.Leu254=)
|
rs781805854
|
0.00006
|
NM_002230.4(JUP):c.972T>C (p.Tyr324=)
|
rs781889333
|
0.00006
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
NM_004415.4(DSP):c.183G>A (p.Thr61=)
|
rs150383703
|
0.00006
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
NM_004415.4(DSP):c.2437-20T>G
|
rs778134276
|
0.00006
|
NM_004415.4(DSP):c.2630+19G>A
|
rs139830549
|
0.00006
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)
|
rs369449858
|
0.00006
|
NM_004415.4(DSP):c.4914C>T (p.Asp1638=)
|
rs750113099
|
0.00006
|
NM_004415.4(DSP):c.5463C>T (p.Val1821=)
|
rs961915749
|
0.00006
|
NM_004415.4(DSP):c.561C>T (p.Val187=)
|
rs199585428
|
0.00006
|
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
|
rs142927608
|
0.00006
|
NM_004415.4(DSP):c.6654C>T (p.Thr2218=)
|
rs727503005
|
0.00006
|
NM_004415.4(DSP):c.726+7G>C
|
rs370309952
|
0.00006
|
NM_004415.4(DSP):c.729C>T (p.Arg243=)
|
rs141028505
|
0.00006
|
NM_004415.4(DSP):c.783G>A (p.Ala261=)
|
rs764596108
|
0.00006
|
NM_004415.4(DSP):c.915C>T (p.Ile305=)
|
rs148395326
|
0.00006
|
NM_006073.4(TRDN):c.1106-8T>C
|
rs575469218
|
0.00006
|
NM_006073.4(TRDN):c.1832-15T>C
|
rs904511303
|
0.00006
|
NM_006073.4(TRDN):c.1975+8C>T
|
rs754046696
|
0.00006
|
NM_013266.4(CTNNA3):c.1035G>A (p.Glu345=)
|
rs368211074
|
0.00006
|
NM_013266.4(CTNNA3):c.1476C>T (p.Val492=)
|
rs182681928
|
0.00006
|
NM_013266.4(CTNNA3):c.1491A>G (p.Val497=)
|
rs141098613
|
0.00006
|
NM_013266.4(CTNNA3):c.2159+13A>G
|
rs895448832
|
0.00006
|
NM_013266.4(CTNNA3):c.844-10C>T
|
rs754623972
|
0.00006
|
NM_024334.3(TMEM43):c.1185A>G (p.Pro395=)
|
rs747754860
|
0.00006
|
NM_024334.3(TMEM43):c.442+20C>T
|
rs202103307
|
0.00006
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
NM_024334.3(TMEM43):c.981A>G (p.Thr327=)
|
rs764960823
|
0.00006
|
NM_024422.6(DSC2):c.1591A>C (p.Arg531=)
|
rs727502981
|
0.00006
|
NM_024422.6(DSC2):c.1638T>C (p.Asn546=)
|
rs145987522
|
0.00006
|
NM_024422.6(DSC2):c.2103G>A (p.Leu701=)
|
rs141726394
|
0.00006
|
NM_024422.6(DSC2):c.2126-7C>G
|
rs936641955
|
0.00006
|
NM_024422.6(DSC2):c.2151G>C (p.Gly717=)
|
rs752691135
|
0.00006
|
NM_024422.6(DSC2):c.2259G>A (p.Ala753=)
|
rs201086521
|
0.00006
|
NM_001005242.3(PKP2):c.1137C>T (p.His379=)
|
rs754927123
|
0.00005
|
NM_001005242.3(PKP2):c.123G>T (p.Ala41=)
|
rs757273590
|
0.00005
|
NM_001005242.3(PKP2):c.1379-1960T>C
|
rs1028861380
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
NM_001005242.3(PKP2):c.576G>A (p.Pro192=)
|
rs373380483
|
0.00005
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=)
|
rs727505058
|
0.00005
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
NM_001035.3(RYR2):c.11418T>C (p.Asn3806=)
|
rs889979768
|
0.00005
|
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=)
|
rs368948386
|
0.00005
|
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)
|
rs199624074
|
0.00005
|
NM_001035.3(RYR2):c.2410C>T (p.Leu804Phe)
|
rs577451406
|
0.00005
|
NM_001035.3(RYR2):c.4160+15C>T
|
rs376097712
|
0.00005
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
NM_001035.3(RYR2):c.5793T>G (p.Asp1931Glu)
|
rs372222227
|
0.00005
|
NM_001035.3(RYR2):c.8209-13G>C
|
rs759582222
|
0.00005
|
NM_001035.3(RYR2):c.9580+9G>A
|
rs767679867
|
0.00005
|
NM_001232.4(CASQ2):c.897C>T (p.Pro299=)
|
rs752053912
|
0.00005
|
NM_001232.4(CASQ2):c.927C>T (p.Asp309=)
|
rs749266321
|
0.00005
|
NM_001943.5(DSG2):c.1656C>T (p.Thr552=)
|
rs756426150
|
0.00005
|
NM_001943.5(DSG2):c.165C>T (p.Pro55=)
|
rs780650457
|
0.00005
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
NM_001943.5(DSG2):c.82-19C>G
|
rs746455736
|
0.00005
|
NM_002230.4(JUP):c.1452C>T (p.Ala484=)
|
rs374831874
|
0.00005
|
NM_002230.4(JUP):c.1455C>T (p.Ile485=)
|
rs368692517
|
0.00005
|
NM_002230.4(JUP):c.1710C>T (p.Leu570=)
|
rs375801194
|
0.00005
|
NM_002230.4(JUP):c.1857C>T (p.Asp619=)
|
rs782623854
|
0.00005
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
NM_002230.4(JUP):c.748C>T (p.Leu250=)
|
rs545386394
|
0.00005
|
NM_004415.4(DSP):c.1983T>C (p.Asn661=)
|
rs770735715
|
0.00005
|
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)
|
rs548695484
|
0.00005
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)
|
rs372288373
|
0.00005
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)
|
rs767661570
|
0.00005
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
NM_004415.4(DSP):c.778-20C>T
|
rs762596346
|
0.00005
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)
|
rs376751288
|
0.00005
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)
|
rs144850908
|
0.00005
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
NM_006073.4(TRDN):c.1537+17C>T
|
rs369584691
|
0.00005
|
NM_006073.4(TRDN):c.94C>T (p.Leu32=)
|
rs755548582
|
0.00005
|
NM_013266.4(CTNNA3):c.165C>T (p.Ala55=)
|
rs141527898
|
0.00005
|
NM_013266.4(CTNNA3):c.449A>G (p.His150Arg)
|
rs546550340
|
0.00005
|
NM_013266.4(CTNNA3):c.867C>G (p.Leu289=)
|
rs149090594
|
0.00005
|
NM_024334.3(TMEM43):c.882+17A>G
|
rs370443570
|
0.00005
|
NM_001005242.3(PKP2):c.12C>T (p.Pro4=)
|
rs397516991
|
0.00004
|
NM_001005242.3(PKP2):c.1378+18T>C
|
rs374266697
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1967_1379-1966del
|
rs1491439367
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1968C>G
|
rs754530494
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2020G>A
|
rs1415117420
|
0.00004
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
NM_001005242.3(PKP2):c.1556+18C>G
|
rs370617388
|
0.00004
|
NM_001005242.3(PKP2):c.1575C>T (p.Gly525=)
|
rs780049494
|
0.00004
|
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=)
|
rs397517006
|
0.00004
|
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=)
|
rs727505293
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
NM_001005242.3(PKP2):c.213C>T (p.Ser71=)
|
rs1173618581
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.468G>A (p.Pro156=)
|
rs756166702
|
0.00004
|
NM_001005242.3(PKP2):c.714G>A (p.Pro238=)
|
rs727503372
|
0.00004
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
NM_001005242.3(PKP2):c.963C>T (p.Val321=)
|
rs202207343
|
0.00004
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
NM_001035.3(RYR2):c.10452G>T (p.Gly3484=)
|
rs199498105
|
0.00004
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
NM_001035.3(RYR2):c.1068C>T (p.Tyr356=)
|
rs776823422
|
0.00004
|
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=)
|
rs752297019
|
0.00004
|
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=)
|
rs760519786
|
0.00004
|
NM_001035.3(RYR2):c.11476+10A>C
|
rs794728702
|
0.00004
|
NM_001035.3(RYR2):c.11476+14dup
|
rs780419779
|
0.00004
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
NM_001035.3(RYR2):c.11647-16C>A
|
rs369311028
|
0.00004
|
NM_001035.3(RYR2):c.1207A>C (p.Ile403Leu)
|
rs142797573
|
0.00004
|
NM_001035.3(RYR2):c.12084G>A (p.Ser4028=)
|
rs751821960
|
0.00004
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
NM_001035.3(RYR2):c.12276G>A (p.Lys4092=)
|
rs974833291
|
0.00004
|
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
|
rs758453646
|
0.00004
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
NM_001035.3(RYR2):c.13293A>G (p.Glu4431=)
|
rs778248995
|
0.00004
|
NM_001035.3(RYR2):c.13398C>T (p.His4466=)
|
rs373913909
|
0.00004
|
NM_001035.3(RYR2):c.13913+17A>G
|
rs371894104
|
0.00004
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)
|
rs776188922
|
0.00004
|
NM_001035.3(RYR2):c.2512C>G (p.Arg838Gly)
|
rs1407524067
|
0.00004
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)
|
rs372575878
|
0.00004
|
NM_001035.3(RYR2):c.2718+19T>C
|
rs773320230
|
0.00004
|
NM_001035.3(RYR2):c.294+15G>A
|
rs750047302
|
0.00004
|
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=)
|
rs368017980
|
0.00004
|
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)
|
rs748085424
|
0.00004
|
NM_001035.3(RYR2):c.3423+10C>A
|
rs876657577
|
0.00004
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001035.3(RYR2):c.463+18C>T
|
rs756719910
|
0.00004
|
NM_001035.3(RYR2):c.464-12G>A
|
rs766779504
|
0.00004
|
NM_001035.3(RYR2):c.4707A>G (p.Gly1569=)
|
rs761012789
|
0.00004
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
NM_001035.3(RYR2):c.5004G>A (p.Gly1668=)
|
rs371085573
|
0.00004
|
NM_001035.3(RYR2):c.5238C>T (p.His1746=)
|
rs371966699
|
0.00004
|
NM_001035.3(RYR2):c.5508C>T (p.Asn1836=)
|
rs777640285
|
0.00004
|
NM_001035.3(RYR2):c.5515T>C (p.Leu1839=)
|
rs375521843
|
0.00004
|
NM_001035.3(RYR2):c.5550G>A (p.Val1850=)
|
rs764164889
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
|
rs553819263
|
0.00004
|
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=)
|
rs751554639
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001035.3(RYR2):c.601T>C (p.Leu201=)
|
rs752523583
|
0.00004
|
NM_001035.3(RYR2):c.6046T>A (p.Ser2016Thr)
|
rs575248331
|
0.00004
|
NM_001035.3(RYR2):c.6279C>T (p.Asp2093=)
|
rs771328006
|
0.00004
|
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)
|
rs587782974
|
0.00004
|
NM_001035.3(RYR2):c.677-13T>G
|
rs571476497
|
0.00004
|
NM_001035.3(RYR2):c.6780G>A (p.Pro2260=)
|
rs758855412
|
0.00004
|
NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=)
|
rs770823825
|
0.00004
|
NM_001035.3(RYR2):c.7539C>G (p.Ala2513=)
|
rs745761104
|
0.00004
|
NM_001035.3(RYR2):c.7569C>T (p.Ala2523=)
|
rs748943528
|
0.00004
|
NM_001035.3(RYR2):c.7623C>T (p.His2541=)
|
rs753435083
|
0.00004
|
NM_001035.3(RYR2):c.8181C>T (p.His2727=)
|
rs746562398
|
0.00004
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
NM_001035.3(RYR2):c.8436+15C>T
|
rs536793514
|
0.00004
|
NM_001035.3(RYR2):c.8591-8A>G
|
rs1369273531
|
0.00004
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
NM_001035.3(RYR2):c.9450-17G>A
|
rs575213280
|
0.00004
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
NM_001035.3(RYR2):c.9783C>T (p.Ala3261=)
|
rs370556829
|
0.00004
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
NM_001232.4(CASQ2):c.606+12T>C
|
rs763932609
|
0.00004
|
NM_001232.4(CASQ2):c.738-16_738-15insC
|
rs747358070
|
0.00004
|
NM_001232.4(CASQ2):c.924G>A (p.Pro308=)
|
rs761798969
|
0.00004
|
NM_001943.5(DSG2):c.1110T>C (p.Pro370=)
|
rs772805008
|
0.00004
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
NM_001943.5(DSG2):c.2004G>A (p.Val668=)
|
rs773645222
|
0.00004
|
NM_001943.5(DSG2):c.2043A>T (p.Leu681=)
|
rs780836969
|
0.00004
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
NM_001943.5(DSG2):c.273A>G (p.Gly91=)
|
rs376944801
|
0.00004
|
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)
|
rs373598034
|
0.00004
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile)
|
rs201966605
|
0.00004
|
NM_001943.5(DSG2):c.3171G>A (p.Leu1057=)
|
rs376020729
|
0.00004
|
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)
|
rs2848673
|
0.00004
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
NM_001943.5(DSG2):c.45+17G>A
|
rs752853934
|
0.00004
|
NM_001943.5(DSG2):c.873G>A (p.Thr291=)
|
rs760706353
|
0.00004
|
NM_002230.4(JUP):c.1371C>T (p.Cys457=)
|
rs531692563
|
0.00004
|
NM_002230.4(JUP):c.162G>C (p.Thr54=)
|
rs377681053
|
0.00004
|
NM_002230.4(JUP):c.1806C>T (p.Arg602=)
|
rs781934535
|
0.00004
|
NM_002230.4(JUP):c.1902G>T (p.Leu634=)
|
rs145808264
|
0.00004
|
NM_002230.4(JUP):c.1914C>T (p.Asn638=)
|
rs368772249
|
0.00004
|
NM_002230.4(JUP):c.1932C>T (p.Tyr644=)
|
rs201704572
|
0.00004
|
NM_002230.4(JUP):c.1945C>T (p.Leu649=)
|
rs149148171
|
0.00004
|
NM_002230.4(JUP):c.2086+14G>A
|
rs727504485
|
0.00004
|
NM_002230.4(JUP):c.321G>A (p.Glu107=)
|
rs781978743
|
0.00004
|
NM_002230.4(JUP):c.945C>T (p.Leu315=)
|
rs146804895
|
0.00004
|
NM_002230.4(JUP):c.966C>T (p.Tyr322=)
|
rs200952834
|
0.00004
|
NM_004415.4(DSP):c.1005A>G (p.Gln335=)
|
rs200961741
|
0.00004
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
NM_004415.4(DSP):c.1443G>A (p.Glu481=)
|
rs149126992
|
0.00004
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.1963A>T (p.Ile655Phe)
|
rs148868379
|
0.00004
|
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)
|
rs1225927424
|
0.00004
|
NM_004415.4(DSP):c.2317C>T (p.Leu773=)
|
rs767433534
|
0.00004
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
NM_004415.4(DSP):c.2631-5C>T
|
rs773772683
|
0.00004
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
NM_004415.4(DSP):c.2735T>C (p.Leu912Ser)
|
rs765831604
|
0.00004
|
NM_004415.4(DSP):c.2796C>T (p.Asn932=)
|
rs368981849
|
0.00004
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
0.00004
|
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
|
rs765645957
|
0.00004
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys)
|
rs750054075
|
0.00004
|
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)
|
rs758312365
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)
|
rs397516947
|
0.00004
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
NM_004415.4(DSP):c.598-4G>A
|
rs747448946
|
0.00004
|
NM_004415.4(DSP):c.6240C>T (p.Phe2080=)
|
rs757650857
|
0.00004
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
NM_004415.4(DSP):c.7035A>G (p.Gly2345=)
|
rs780379988
|
0.00004
|
NM_004415.4(DSP):c.7128G>T (p.Gly2376=)
|
rs756684406
|
0.00004
|
NM_004415.4(DSP):c.7332G>T (p.Leu2444=)
|
rs1330371919
|
0.00004
|
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)
|
rs764994940
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu)
|
rs149123428
|
0.00004
|
NM_004415.4(DSP):c.8229G>A (p.Gly2743=)
|
rs1060503979
|
0.00004
|
NM_004415.4(DSP):c.8259G>A (p.Lys2753=)
|
rs1005570207
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
NM_006073.4(TRDN):c.1011G>A (p.Lys337=)
|
rs886039062
|
0.00004
|
NM_006073.4(TRDN):c.1035T>C (p.Ile345=)
|
rs376370234
|
0.00004
|
NM_006073.4(TRDN):c.1219+4A>G
|
rs189551080
|
0.00004
|
NM_006073.4(TRDN):c.1420+20A>G
|
rs1274691409
|
0.00004
|
NM_006073.4(TRDN):c.1568-4T>A
|
rs764779610
|
0.00004
|
NM_006073.4(TRDN):c.1598-6T>G
|
rs554635684
|
0.00004
|
NM_006073.4(TRDN):c.1683T>C (p.Val561=)
|
rs777229118
|
0.00004
|
NM_006073.4(TRDN):c.1932A>G (p.Gln644=)
|
rs976397587
|
0.00004
|
NM_006073.4(TRDN):c.348T>G (p.Ser116=)
|
rs746361154
|
0.00004
|
NM_006073.4(TRDN):c.540T>C (p.Pro180=)
|
rs765743451
|
0.00004
|
NM_006073.4(TRDN):c.825C>T (p.Asp275=)
|
rs375079402
|
0.00004
|
NM_013266.4(CTNNA3):c.1048-18G>A
|
rs777458138
|
0.00004
|
NM_013266.4(CTNNA3):c.1674C>T (p.Tyr558=)
|
rs757471865
|
0.00004
|
NM_013266.4(CTNNA3):c.1800G>A (p.Val600=)
|
rs137910578
|
0.00004
|
NM_013266.4(CTNNA3):c.1884+7T>G
|
rs762826132
|
0.00004
|
NM_013266.4(CTNNA3):c.2054G>A (p.Ser685Asn)
|
rs774933459
|
0.00004
|
NM_013266.4(CTNNA3):c.2259T>C (p.Ala753=)
|
rs761705979
|
0.00004
|
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)
|
rs530727340
|
0.00004
|
NM_013266.4(CTNNA3):c.264G>A (p.Thr88=)
|
rs752481842
|
0.00004
|
NM_013266.4(CTNNA3):c.822A>C (p.Gly274=)
|
rs779601781
|
0.00004
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
NM_024334.3(TMEM43):c.624A>G (p.Leu208=)
|
rs527942696
|
0.00004
|
NM_024334.3(TMEM43):c.705+11A>T
|
rs960038220
|
0.00004
|
NM_024334.3(TMEM43):c.750C>T (p.Gly250=)
|
rs374222050
|
0.00004
|
NM_024422.6(DSC2):c.1176T>C (p.Asn392=)
|
rs769365346
|
0.00004
|
NM_024422.6(DSC2):c.1308T>C (p.Gly436=)
|
rs762786487
|
0.00004
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
NM_024422.6(DSC2):c.160C>T (p.Leu54=)
|
rs149347582
|
0.00004
|
NM_024422.6(DSC2):c.1776G>A (p.Ala592=)
|
rs727502980
|
0.00004
|
NM_024422.6(DSC2):c.2175A>C (p.Pro725=)
|
rs921649870
|
0.00004
|
NM_024422.6(DSC2):c.2202G>A (p.Gln734=)
|
rs775922060
|
0.00004
|
NM_024422.6(DSC2):c.2208C>T (p.Asn736=)
|
rs727504534
|
0.00004
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
NM_024422.6(DSC2):c.2509-16T>C
|
rs978907622
|
0.00004
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
NM_024422.6(DSC2):c.630+15G>A
|
rs201596999
|
0.00004
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
NM_024422.6(DSC2):c.69+18C>T
|
rs1274405499
|
0.00004
|
NM_024422.6(DSC2):c.69+8T>C
|
rs921767833
|
0.00004
|
NM_024422.6(DSC2):c.70-7T>G
|
rs184341263
|
0.00004
|
NM_024422.6(DSC2):c.776-12T>G
|
rs397517403
|
0.00004
|
NM_001005242.3(PKP2):c.1035-11del
|
rs1393167652
|
0.00003
|
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=)
|
rs397516984
|
0.00003
|
NM_001005242.3(PKP2):c.1379-2011G>A
|
rs140301552
|
0.00003
|
NM_001005242.3(PKP2):c.1379-2056C>T
|
rs749052785
|
0.00003
|
NM_001005242.3(PKP2):c.1998G>A (p.Thr666=)
|
rs371089832
|
0.00003
|
NM_001005242.3(PKP2):c.2168-20T>G
|
rs759180353
|
0.00003
|
NM_001005242.3(PKP2):c.224-8G>T
|
rs1486692885
|
0.00003
|
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=)
|
rs747191995
|
0.00003
|
NM_001005242.3(PKP2):c.360A>G (p.Glu120=)
|
rs764868621
|
0.00003
|
NM_001005242.3(PKP2):c.591C>T (p.Ser197=)
|
rs769438623
|
0.00003
|
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)
|
rs371898166
|
0.00003
|
NM_001035.3(RYR2):c.10323+16G>A
|
rs961862052
|
0.00003
|
NM_001035.3(RYR2):c.10495-10T>C
|
rs750850264
|
0.00003
|
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)
|
rs751520590
|
0.00003
|
NM_001035.3(RYR2):c.10725+9A>C
|
rs747973819
|
0.00003
|
NM_001035.3(RYR2):c.10936-13G>T
|
rs376086028
|
0.00003
|
NM_001035.3(RYR2):c.11208G>C (p.Ala3736=)
|
rs750384592
|
0.00003
|
NM_001035.3(RYR2):c.11730C>T (p.Ile3910=)
|
rs764373699
|
0.00003
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
NM_001035.3(RYR2):c.11G>C (p.Gly4Ala)
|
rs866878858
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001035.3(RYR2):c.12075T>C (p.Asp4025=)
|
rs570554092
|
0.00003
|
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)
|
rs763004638
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
NM_001035.3(RYR2):c.13044G>A (p.Glu4348=)
|
rs559197657
|
0.00003
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)
|
rs1409192667
|
0.00003
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr)
|
rs773264033
|
0.00003
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
NM_001035.3(RYR2):c.14493C>T (p.Ile4831=)
|
rs375456172
|
0.00003
|
NM_001035.3(RYR2):c.14694C>T (p.Phe4898=)
|
rs542501813
|
0.00003
|
NM_001035.3(RYR2):c.1477-8C>T
|
rs876657575
|
0.00003
|
NM_001035.3(RYR2):c.1665C>T (p.Leu555=)
|
rs371262363
|
0.00003
|
NM_001035.3(RYR2):c.1674G>A (p.Leu558=)
|
rs1324895345
|
0.00003
|
NM_001035.3(RYR2):c.1773A>G (p.Glu591=)
|
rs1187362255
|
0.00003
|
NM_001035.3(RYR2):c.1962-13C>T
|
rs549804448
|
0.00003
|
NM_001035.3(RYR2):c.2396+10T>C
|
rs745329806
|
0.00003
|
NM_001035.3(RYR2):c.2544C>T (p.Arg848=)
|
rs748097250
|
0.00003
|
NM_001035.3(RYR2):c.3214+7T>G
|
rs748941127
|
0.00003
|
NM_001035.3(RYR2):c.3243C>T (p.Thr1081=)
|
rs771680871
|
0.00003
|
NM_001035.3(RYR2):c.3270C>G (p.Ala1090=)
|
rs1344074824
|
0.00003
|
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)
|
rs199682282
|
0.00003
|
NM_001035.3(RYR2):c.336A>G (p.Thr112=)
|
rs536426427
|
0.00003
|
NM_001035.3(RYR2):c.3423+6T>G
|
rs1057521957
|
0.00003
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
NM_001035.3(RYR2):c.3808-10C>T
|
rs779454549
|
0.00003
|
NM_001035.3(RYR2):c.3822C>T (p.Asp1274=)
|
rs761365777
|
0.00003
|
NM_001035.3(RYR2):c.385-17del
|
rs771168005
|
0.00003
|
NM_001035.3(RYR2):c.4276-16T>C
|
rs772146128
|
0.00003
|
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=)
|
rs727503399
|
0.00003
|
NM_001035.3(RYR2):c.464-13C>T
|
rs372610981
|
0.00003
|
NM_001035.3(RYR2):c.4684-6C>T
|
rs755712032
|
0.00003
|
NM_001035.3(RYR2):c.4689G>A (p.Val1563=)
|
rs1259232031
|
0.00003
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
NM_001035.3(RYR2):c.5169C>T (p.Asn1723=)
|
rs772441741
|
0.00003
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
NM_001035.3(RYR2):c.6172C>T (p.Leu2058=)
|
rs756447467
|
0.00003
|
NM_001035.3(RYR2):c.6441-15C>T
|
rs747176905
|
0.00003
|
NM_001035.3(RYR2):c.6627G>A (p.Gln2209=)
|
rs373686520
|
0.00003
|
NM_001035.3(RYR2):c.6936T>C (p.Ser2312=)
|
rs1282237936
|
0.00003
|
NM_001035.3(RYR2):c.708G>A (p.Leu236=)
|
rs773746218
|
0.00003
|
NM_001035.3(RYR2):c.7098C>T (p.Ser2366=)
|
rs375631485
|
0.00003
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
NM_001035.3(RYR2):c.7512+13C>T
|
rs777383641
|
0.00003
|
NM_001035.3(RYR2):c.7624G>T (p.Ala2542Ser)
|
rs373602064
|
0.00003
|
NM_001035.3(RYR2):c.8209-12C>A
|
rs767601681
|
0.00003
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
NM_001035.3(RYR2):c.8436+9T>G
|
rs371760672
|
0.00003
|
NM_001035.3(RYR2):c.849-13C>T
|
rs757524222
|
0.00003
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)
|
rs753179691
|
0.00003
|
NM_001035.3(RYR2):c.9018-11T>C
|
rs781149223
|
0.00003
|
NM_001035.3(RYR2):c.9189C>T (p.Asn3063=)
|
rs531651646
|
0.00003
|
NM_001035.3(RYR2):c.926T>C (p.Met309Thr)
|
rs542853582
|
0.00003
|
NM_001035.3(RYR2):c.9418T>G (p.Leu3140Val)
|
rs796586893
|
0.00003
|
NM_001035.3(RYR2):c.9441C>T (p.Tyr3147=)
|
rs760338814
|
0.00003
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
NM_001035.3(RYR2):c.9996G>A (p.Thr3332=)
|
rs760131228
|
0.00003
|
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=)
|
rs751885773
|
0.00003
|
NM_001232.4(CASQ2):c.421-7A>T
|
rs776008006
|
0.00003
|
NM_001232.4(CASQ2):c.627G>A (p.Leu209=)
|
rs1291884749
|
0.00003
|
NM_001232.4(CASQ2):c.681C>T (p.Ile227=)
|
rs769189583
|
0.00003
|
NM_001943.5(DSG2):c.1119T>C (p.Ile373=)
|
rs770547012
|
0.00003
|
NM_001943.5(DSG2):c.1194C>T (p.Ser398=)
|
rs770669833
|
0.00003
|
NM_001943.5(DSG2):c.1524C>T (p.His508=)
|
rs560004953
|
0.00003
|
NM_001943.5(DSG2):c.1536T>C (p.Tyr512=)
|
rs952187023
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_001943.5(DSG2):c.2304C>T (p.Asn768=)
|
rs368514815
|
0.00003
|
NM_001943.5(DSG2):c.2340G>T (p.Ala780=)
|
rs375539435
|
0.00003
|
NM_001943.5(DSG2):c.2421G>T (p.Leu807=)
|
rs374775982
|
0.00003
|
NM_001943.5(DSG2):c.3210G>A (p.Thr1070=)
|
rs771104963
|
0.00003
|
NM_001943.5(DSG2):c.3228G>A (p.Val1076=)
|
rs373966845
|
0.00003
|
NM_001943.5(DSG2):c.55A>G (p.Asn19Asp)
|
rs185266383
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
NM_002230.4(JUP):c.1218C>T (p.Asn406=)
|
rs782565128
|
0.00003
|
NM_002230.4(JUP):c.1290A>G (p.Thr430=)
|
rs897549158
|
0.00003
|
NM_002230.4(JUP):c.1497+15C>T
|
rs1208242034
|
0.00003
|
NM_002230.4(JUP):c.153C>T (p.Arg51=)
|
rs1002288225
|
0.00003
|
NM_002230.4(JUP):c.1653+18G>A
|
rs1057520950
|
0.00003
|
NM_002230.4(JUP):c.1995C>T (p.Ser665=)
|
rs782094877
|
0.00003
|
NM_002230.4(JUP):c.2087-14C>T
|
rs781839198
|
0.00003
|
NM_002230.4(JUP):c.357G>A (p.Pro119=)
|
rs782579395
|
0.00003
|
NM_002230.4(JUP):c.435C>T (p.Pro145=)
|
rs781786854
|
0.00003
|
NM_002230.4(JUP):c.474G>A (p.Val158=)
|
rs572405296
|
0.00003
|
NM_002230.4(JUP):c.66C>T (p.Tyr22=)
|
rs782575179
|
0.00003
|
NM_002230.4(JUP):c.707+13G>A
|
rs370998940
|
0.00003
|
NM_002230.4(JUP):c.723G>A (p.Ser241=)
|
rs564635690
|
0.00003
|
NM_002230.4(JUP):c.789C>T (p.Ala263=)
|
rs781822316
|
0.00003
|
NM_004415.4(DSP):c.1045-8T>C
|
rs201633815
|
0.00003
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
NM_004415.4(DSP):c.1254C>G (p.Ile418Met)
|
rs752264359
|
0.00003
|
NM_004415.4(DSP):c.1267-14A>T
|
rs374439921
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_004415.4(DSP):c.1420-15T>C
|
rs569955363
|
0.00003
|
NM_004415.4(DSP):c.1487C>T (p.Thr496Met)
|
rs374283517
|
0.00003
|
NM_004415.4(DSP):c.1501G>A (p.Val501Ile)
|
rs368778031
|
0.00003
|
NM_004415.4(DSP):c.1512T>C (p.Leu504=)
|
rs537526794
|
0.00003
|
NM_004415.4(DSP):c.1557C>T (p.Ala519=)
|
rs769629611
|
0.00003
|
NM_004415.4(DSP):c.1630A>C (p.Met544Leu)
|
rs201960323
|
0.00003
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
NM_004415.4(DSP):c.1904-12T>G
|
rs750869804
|
0.00003
|
NM_004415.4(DSP):c.1904-17C>G
|
rs370715047
|
0.00003
|
NM_004415.4(DSP):c.201C>T (p.Asn67=)
|
rs774432635
|
0.00003
|
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)
|
rs775181391
|
0.00003
|
NM_004415.4(DSP):c.2052C>A (p.Gly684=)
|
rs760191477
|
0.00003
|
NM_004415.4(DSP):c.2310A>C (p.Val770=)
|
rs762909119
|
0.00003
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
NM_004415.4(DSP):c.256G>C (p.Glu86Gln)
|
rs764993760
|
0.00003
|
NM_004415.4(DSP):c.2720G>A (p.Arg907His)
|
rs774665110
|
0.00003
|
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys)
|
rs376932045
|
0.00003
|
NM_004415.4(DSP):c.3015A>G (p.Glu1005=)
|
rs397516930
|
0.00003
|
NM_004415.4(DSP):c.3231G>A (p.Ala1077=)
|
rs368214030
|
0.00003
|
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)
|
rs755481878
|
0.00003
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
NM_004415.4(DSP):c.363C>T (p.Leu121=)
|
rs748204541
|
0.00003
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
NM_004415.4(DSP):c.3651G>A (p.Thr1217=)
|
rs1057522191
|
0.00003
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)
|
rs765247380
|
0.00003
|
NM_004415.4(DSP):c.4041A>G (p.Glu1347=)
|
rs200671552
|
0.00003
|
NM_004415.4(DSP):c.4077C>T (p.Ile1359=)
|
rs747249306
|
0.00003
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
NM_004415.4(DSP):c.4377A>G (p.Thr1459=)
|
rs771910118
|
0.00003
|
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
|
rs948230523
|
0.00003
|
NM_004415.4(DSP):c.4540C>T (p.Leu1514=)
|
rs754783192
|
0.00003
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)
|
rs397516944
|
0.00003
|
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)
|
rs773113214
|
0.00003
|
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)
|
rs869025394
|
0.00003
|
NM_004415.4(DSP):c.5154G>A (p.Leu1718=)
|
rs376620183
|
0.00003
|
NM_004415.4(DSP):c.5223G>A (p.Ala1741=)
|
rs201984474
|
0.00003
|
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr)
|
rs768161038
|
0.00003
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
0.00003
|
NM_004415.4(DSP):c.5865T>C (p.Thr1955=)
|
rs1306745746
|
0.00003
|
NM_004415.4(DSP):c.5899G>A (p.Val1967Met)
|
rs397516949
|
0.00003
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
NM_004415.4(DSP):c.607G>A (p.Asp203Asn)
|
rs374100807
|
0.00003
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)
|
rs765687440
|
0.00003
|
NM_004415.4(DSP):c.6496C>A (p.Arg2166=)
|
rs141026028
|
0.00003
|
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
|
rs377749481
|
0.00003
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
NM_004415.4(DSP):c.7014G>C (p.Gly2338=)
|
rs1054965369
|
0.00003
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
NM_004415.4(DSP):c.7569G>A (p.Lys2523=)
|
rs1230846776
|
0.00003
|
NM_004415.4(DSP):c.7653C>T (p.Ser2551=)
|
rs746983874
|
0.00003
|
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)
|
rs397516959
|
0.00003
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg)
|
rs749806703
|
0.00003
|
NM_004415.4(DSP):c.837G>A (p.Thr279=)
|
rs368051840
|
0.00003
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
NM_006073.4(TRDN):c.1186+13A>T
|
rs374832854
|
0.00003
|
NM_006073.4(TRDN):c.126G>A (p.Thr42=)
|
rs774324909
|
0.00003
|
NM_006073.4(TRDN):c.1273+16T>C
|
rs1055067085
|
0.00003
|
NM_006073.4(TRDN):c.1321+15A>G
|
rs373855431
|
0.00003
|
NM_006073.4(TRDN):c.1369+9A>G
|
rs373926690
|
0.00003
|
NM_006073.4(TRDN):c.1420+7G>A
|
rs1468907376
|
0.00003
|
NM_006073.4(TRDN):c.1421-20T>C
|
rs1018226745
|
0.00003
|
NM_006073.4(TRDN):c.1672+8G>T
|
rs372811049
|
0.00003
|
NM_006073.4(TRDN):c.2073T>C (p.Cys691=)
|
rs776628762
|
0.00003
|
NM_006073.4(TRDN):c.22+8T>C
|
rs754212646
|
0.00003
|
NM_006073.4(TRDN):c.610+20T>G
|
rs1236681855
|
0.00003
|
NM_006073.4(TRDN):c.611-10C>T
|
rs908084983
|
0.00003
|
NM_006073.4(TRDN):c.611-14T>A
|
rs181140338
|
0.00003
|
NM_006073.4(TRDN):c.931+19C>T
|
rs1319851680
|
0.00003
|
NM_013266.4(CTNNA3):c.1282-16T>A
|
rs1380666219
|
0.00003
|
NM_013266.4(CTNNA3):c.2614A>C (p.Arg872=)
|
rs746704810
|
0.00003
|
NM_013266.4(CTNNA3):c.2628A>G (p.Ala876=)
|
rs377740786
|
0.00003
|
NM_024334.3(TMEM43):c.1000+12G>A
|
rs749592639
|
0.00003
|
NM_024334.3(TMEM43):c.180G>A (p.Thr60=)
|
rs765703685
|
0.00003
|
NM_024334.3(TMEM43):c.189A>G (p.Ser63=)
|
rs934304715
|
0.00003
|
NM_024334.3(TMEM43):c.512+12G>A
|
rs766205020
|
0.00003
|
NM_024334.3(TMEM43):c.584-13C>G
|
rs748146417
|
0.00003
|
NM_024334.3(TMEM43):c.591C>T (p.Ile197=)
|
rs145024252
|
0.00003
|
NM_024334.3(TMEM43):c.684C>T (p.Ser228=)
|
rs371019231
|
0.00003
|
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu)
|
rs533275736
|
0.00003
|
NM_024334.3(TMEM43):c.96C>T (p.Thr32=)
|
rs1021721320
|
0.00003
|
NM_024422.6(DSC2):c.1264-4G>A
|
rs377439942
|
0.00003
|
NM_024422.6(DSC2):c.1881A>G (p.Ala627=)
|
rs752023626
|
0.00003
|
NM_024422.6(DSC2):c.2157T>C (p.Ser719=)
|
rs985629599
|
0.00003
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
NM_024422.6(DSC2):c.2509-9C>T
|
rs773056962
|
0.00003
|
NM_024422.6(DSC2):c.2595G>A (p.Val865=)
|
rs765879750
|
0.00003
|
NM_024422.6(DSC2):c.708A>G (p.Glu236=)
|
rs377279601
|
0.00003
|
NM_024422.6(DSC2):c.776-13T>G
|
rs370595433
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024422.6(DSC2):c.870A>G (p.Pro290=)
|
rs142653119
|
0.00003
|
NM_024422.6(DSC2):c.943-9T>C
|
rs750684563
|
0.00003
|
NM_001005242.3(PKP2):c.1171-13G>A
|
rs200137461
|
0.00002
|
NM_001005242.3(PKP2):c.1206G>A (p.Gln402=)
|
rs773905605
|
0.00002
|
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=)
|
rs1439169005
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
NM_001005242.3(PKP2):c.1556+7C>T
|
rs752585335
|
0.00002
|
NM_001005242.3(PKP2):c.1557-14G>T
|
rs748072057
|
0.00002
|
NM_001005242.3(PKP2):c.1674+15A>C
|
rs749247141
|
0.00002
|
NM_001005242.3(PKP2):c.1840-7T>C
|
rs1362643840
|
0.00002
|
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=)
|
rs760434776
|
0.00002
|
NM_001005242.3(PKP2):c.1878C>T (p.Asn626=)
|
rs769943903
|
0.00002
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
NM_001005242.3(PKP2):c.2167+8G>A
|
rs371564682
|
0.00002
|
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)
|
rs369837002
|
0.00002
|
NM_001005242.3(PKP2):c.2358-19A>G
|
rs767272150
|
0.00002
|
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)
|
rs199900632
|
0.00002
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
NM_001005242.3(PKP2):c.558C>T (p.Ala186=)
|
rs184522105
|
0.00002
|
NM_001005242.3(PKP2):c.582T>C (p.Tyr194=)
|
rs532048791
|
0.00002
|
NM_001005242.3(PKP2):c.600G>A (p.Val200=)
|
rs781305034
|
0.00002
|
NM_001005242.3(PKP2):c.687C>T (p.Thr229=)
|
rs1209406571
|
0.00002
|
NM_001005242.3(PKP2):c.804C>T (p.Val268=)
|
rs781271804
|
0.00002
|
NM_001005242.3(PKP2):c.978A>G (p.Ala326=)
|
rs775137004
|
0.00002
|
NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)
|
rs370015676
|
0.00002
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
NM_001035.3(RYR2):c.10260T>C (p.Val3420=)
|
rs778112871
|
0.00002
|
NM_001035.3(RYR2):c.11039+7T>C
|
rs569571855
|
0.00002
|
NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)
|
rs750384592
|
0.00002
|
NM_001035.3(RYR2):c.1171-11C>T
|
rs200226512
|
0.00002
|
NM_001035.3(RYR2):c.11963-4C>T
|
rs747161273
|
0.00002
|
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=)
|
rs368634803
|
0.00002
|
NM_001035.3(RYR2):c.12039T>C (p.Ile4013=)
|
rs775228348
|
0.00002
|
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=)
|
rs770463326
|
0.00002
|
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)
|
rs759830423
|
0.00002
|
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)
|
rs928224285
|
0.00002
|
NM_001035.3(RYR2):c.12282C>T (p.Ile4094=)
|
rs764339831
|
0.00002
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
NM_001035.3(RYR2):c.12552G>A (p.Glu4184=)
|
rs1300867476
|
0.00002
|
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=)
|
rs369532267
|
0.00002
|
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)
|
rs781557399
|
0.00002
|
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)
|
rs1386632671
|
0.00002
|
NM_001035.3(RYR2):c.12957C>T (p.Val4319=)
|
rs727504438
|
0.00002
|
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)
|
rs764884250
|
0.00002
|
NM_001035.3(RYR2):c.13635A>T (p.Thr4545=)
|
rs779762647
|
0.00002
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
NM_001035.3(RYR2):c.14019C>T (p.Asp4673=)
|
rs1303103945
|
0.00002
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
NM_001035.3(RYR2):c.14090+19C>T
|
rs534019715
|
0.00002
|
NM_001035.3(RYR2):c.14151+14A>G
|
rs1451364457
|
0.00002
|
NM_001035.3(RYR2):c.14406A>G (p.Pro4802=)
|
rs767234031
|
0.00002
|
NM_001035.3(RYR2):c.14434-14T>A
|
rs1490862924
|
0.00002
|
NM_001035.3(RYR2):c.1464C>T (p.Leu488=)
|
rs755432808
|
0.00002
|
NM_001035.3(RYR2):c.14721C>T (p.Thr4907=)
|
rs766261818
|
0.00002
|
NM_001035.3(RYR2):c.14808+13T>A
|
rs747353568
|
0.00002
|
NM_001035.3(RYR2):c.14808+15A>G
|
rs769022695
|
0.00002
|
NM_001035.3(RYR2):c.14871C>T (p.Cys4957=)
|
rs752034170
|
0.00002
|
NM_001035.3(RYR2):c.14896C>T (p.Leu4966=)
|
rs368031082
|
0.00002
|
NM_001035.3(RYR2):c.1612+8G>A
|
rs375122829
|
0.00002
|
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)
|
rs773609522
|
0.00002
|
NM_001035.3(RYR2):c.1709-4T>C
|
rs1482457874
|
0.00002
|
NM_001035.3(RYR2):c.1828-10C>A
|
rs755233180
|
0.00002
|
NM_001035.3(RYR2):c.186C>T (p.Leu62=)
|
rs754375280
|
0.00002
|
NM_001035.3(RYR2):c.2029T>A (p.Leu677Met)
|
rs750815004
|
0.00002
|
NM_001035.3(RYR2):c.2130C>T (p.Gly710=)
|
rs536694711
|
0.00002
|
NM_001035.3(RYR2):c.232C>T (p.Leu78=)
|
rs1454549719
|
0.00002
|
NM_001035.3(RYR2):c.2374G>A (p.Val792Ile)
|
rs764485892
|
0.00002
|
NM_001035.3(RYR2):c.2397-12C>T
|
rs754549931
|
0.00002
|
NM_001035.3(RYR2):c.273+9C>T
|
rs770574179
|
0.00002
|
NM_001035.3(RYR2):c.3093C>T (p.Arg1031=)
|
rs775738392
|
0.00002
|
NM_001035.3(RYR2):c.3168G>A (p.Thr1056=)
|
rs1183058696
|
0.00002
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
NM_001035.3(RYR2):c.3237C>T (p.Ser1079=)
|
rs770116364
|
0.00002
|
NM_001035.3(RYR2):c.3461G>A (p.Arg1154His)
|
rs530867686
|
0.00002
|
NM_001035.3(RYR2):c.372C>G (p.Ser124=)
|
rs1478989523
|
0.00002
|
NM_001035.3(RYR2):c.384+11_384+12del
|
rs773309544
|
0.00002
|
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)
|
rs962100875
|
0.00002
|
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)
|
rs201469656
|
0.00002
|
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)
|
rs745839967
|
0.00002
|
NM_001035.3(RYR2):c.40C>T (p.Leu14=)
|
rs878854156
|
0.00002
|
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)
|
rs752124839
|
0.00002
|
NM_001035.3(RYR2):c.4160+16G>A
|
rs587781142
|
0.00002
|
NM_001035.3(RYR2):c.4329G>A (p.Val1443=)
|
rs397516531
|
0.00002
|
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)
|
rs748678280
|
0.00002
|
NM_001035.3(RYR2):c.453G>A (p.Glu151=)
|
rs541334277
|
0.00002
|
NM_001035.3(RYR2):c.4603C>T (p.Pro1535Ser)
|
rs1376021262
|
0.00002
|
NM_001035.3(RYR2):c.464-17T>C
|
rs1424840637
|
0.00002
|
NM_001035.3(RYR2):c.4684-15C>T
|
rs201780507
|
0.00002
|
NM_001035.3(RYR2):c.4852T>C (p.Leu1618=)
|
rs780985525
|
0.00002
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
NM_001035.3(RYR2):c.4917T>C (p.Val1639=)
|
rs1060503850
|
0.00002
|
NM_001035.3(RYR2):c.5181C>A (p.Val1727=)
|
rs776534086
|
0.00002
|
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=)
|
rs758505260
|
0.00002
|
NM_001035.3(RYR2):c.5254G>A (p.Gly1752Ser)
|
rs771662129
|
0.00002
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
NM_001035.3(RYR2):c.5517G>A (p.Leu1839=)
|
rs369835453
|
0.00002
|
NM_001035.3(RYR2):c.5574G>A (p.Glu1858=)
|
rs752393757
|
0.00002
|
NM_001035.3(RYR2):c.5602C>A (p.Leu1868Ile)
|
rs768636940
|
0.00002
|
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)
|
rs1224597817
|
0.00002
|
NM_001035.3(RYR2):c.5715+8G>A
|
rs763395468
|
0.00002
|
NM_001035.3(RYR2):c.6006T>C (p.Asp2002=)
|
rs1234291975
|
0.00002
|
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)
|
rs1313042151
|
0.00002
|
NM_001035.3(RYR2):c.6234C>T (p.Pro2078=)
|
rs748063607
|
0.00002
|
NM_001035.3(RYR2):c.6495G>A (p.Leu2165=)
|
rs1328477417
|
0.00002
|
NM_001035.3(RYR2):c.6537T>G (p.Leu2179=)
|
rs1450139846
|
0.00002
|
NM_001035.3(RYR2):c.6726G>A (p.Val2242=)
|
rs767246962
|
0.00002
|
NM_001035.3(RYR2):c.676+18A>G
|
rs1173261409
|
0.00002
|
NM_001035.3(RYR2):c.6793-12T>C
|
rs180775271
|
0.00002
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
NM_001035.3(RYR2):c.7115+20C>G
|
rs373092652
|
0.00002
|
NM_001035.3(RYR2):c.7284C>T (p.Pro2428=)
|
rs563608396
|
0.00002
|
NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)
|
rs367818536
|
0.00002
|
NM_001035.3(RYR2):c.7329A>G (p.Pro2443=)
|
rs375553387
|
0.00002
|
NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)
|
rs377763795
|
0.00002
|
NM_001035.3(RYR2):c.7965+16G>A
|
rs1242583907
|
0.00002
|
NM_001035.3(RYR2):c.8013A>G (p.Ala2671=)
|
rs1237709417
|
0.00002
|
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)
|
rs794728823
|
0.00002
|
NM_001035.3(RYR2):c.8407C>T (p.Arg2803Trp)
|
rs754674622
|
0.00002
|
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)
|
rs780643623
|
0.00002
|
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
|
rs527576067
|
0.00002
|
NM_001035.3(RYR2):c.8590+18C>T
|
rs376966521
|
0.00002
|
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)
|
rs751520306
|
0.00002
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
NM_001035.3(RYR2):c.8896-14T>C
|
rs761596075
|
0.00002
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
NM_001035.3(RYR2):c.9585C>T (p.Leu3195=)
|
rs747861813
|
0.00002
|
NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)
|
rs771846177
|
0.00002
|
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=)
|
rs753872950
|
0.00002
|
NM_001232.4(CASQ2):c.114C>T (p.Ser38=)
|
rs571353035
|
0.00002
|
NM_001232.4(CASQ2):c.474C>T (p.Phe158=)
|
rs754879716
|
0.00002
|
NM_001232.4(CASQ2):c.607-17A>G
|
rs374227794
|
0.00002
|
NM_001232.4(CASQ2):c.762A>G (p.Pro254=)
|
rs753016201
|
0.00002
|
NM_001232.4(CASQ2):c.87T>C (p.Asp29=)
|
rs772180952
|
0.00002
|
NM_001943.5(DSG2):c.1014+7A>G
|
rs756562276
|
0.00002
|
NM_001943.5(DSG2):c.1280+16A>G
|
rs370932437
|
0.00002
|
NM_001943.5(DSG2):c.1392A>G (p.Thr464=)
|
rs373918593
|
0.00002
|
NM_001943.5(DSG2):c.1651+15T>C
|
rs781396686
|
0.00002
|
NM_001943.5(DSG2):c.1668G>T (p.Leu556=)
|
rs1173417819
|
0.00002
|
NM_001943.5(DSG2):c.2100C>T (p.Ser700=)
|
rs397516704
|
0.00002
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
NM_001943.5(DSG2):c.2853G>A (p.Val951=)
|
rs775759794
|
0.00002
|
NM_001943.5(DSG2):c.2997G>A (p.Ser999=)
|
rs763888499
|
0.00002
|
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)
|
rs773954315
|
0.00002
|
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=)
|
rs757473850
|
0.00002
|
NM_001943.5(DSG2):c.45+18G>T
|
rs762894860
|
0.00002
|
NM_001943.5(DSG2):c.57C>T (p.Asn19=)
|
rs587780925
|
0.00002
|
NM_001943.5(DSG2):c.637C>T (p.Leu213=)
|
rs1317752156
|
0.00002
|
NM_001943.5(DSG2):c.675T>C (p.Val225=)
|
rs576938518
|
0.00002
|
NM_001943.5(DSG2):c.691-15T>C
|
rs1255608052
|
0.00002
|
NM_002230.4(JUP):c.1086C>T (p.Thr362=)
|
rs781838058
|
0.00002
|
NM_002230.4(JUP):c.1152C>T (p.Thr384=)
|
rs782386210
|
0.00002
|
NM_002230.4(JUP):c.1407C>T (p.Ala469=)
|
rs782450410
|
0.00002
|
NM_002230.4(JUP):c.159C>T (p.Tyr53=)
|
rs370760069
|
0.00002
|
NM_002230.4(JUP):c.1924+18A>C
|
rs1057520892
|
0.00002
|
NM_002230.4(JUP):c.195G>T (p.Val65=)
|
rs1454514424
|
0.00002
|
NM_002230.4(JUP):c.2087-18C>T
|
rs776307936
|
0.00002
|
NM_002230.4(JUP):c.2208G>A (p.Pro736=)
|
rs371508357
|
0.00002
|
NM_002230.4(JUP):c.351C>T (p.Ala117=)
|
rs397517300
|
0.00002
|
NM_002230.4(JUP):c.447A>G (p.Lys149=)
|
rs199853316
|
0.00002
|
NM_002230.4(JUP):c.51G>A (p.Gln17=)
|
rs782236888
|
0.00002
|
NM_002230.4(JUP):c.654G>A (p.Gly218=)
|
rs112105828
|
0.00002
|
NM_002230.4(JUP):c.660C>T (p.Leu220=)
|
rs782771003
|
0.00002
|
NM_002230.4(JUP):c.694G>A (p.Val232Ile)
|
rs137989964
|
0.00002
|
NM_002230.4(JUP):c.707+14C>T
|
rs1313165709
|
0.00002
|
NM_002230.4(JUP):c.765G>A (p.Leu255=)
|
rs782535119
|
0.00002
|
NM_002230.4(JUP):c.804C>T (p.Asp268=)
|
rs782667629
|
0.00002
|
NM_002230.4(JUP):c.99C>T (p.Cys33=)
|
rs139172952
|
0.00002
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
NM_004415.4(DSP):c.1068G>A (p.Thr356=)
|
rs766094745
|
0.00002
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
NM_004415.4(DSP):c.1191C>T (p.Asp397=)
|
rs1046392713
|
0.00002
|
NM_004415.4(DSP):c.1215C>T (p.Cys405=)
|
rs377500825
|
0.00002
|
NM_004415.4(DSP):c.1235A>G (p.Gln412Arg)
|
rs1183147646
|
0.00002
|
NM_004415.4(DSP):c.1298G>A (p.Arg433His)
|
rs752143388
|
0.00002
|
NM_004415.4(DSP):c.130C>T (p.Arg44Trp)
|
rs1255744065
|
0.00002
|
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu)
|
rs756357907
|
0.00002
|
NM_004415.4(DSP):c.1419+18A>C
|
rs772789817
|
0.00002
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
NM_004415.4(DSP):c.1522G>A (p.Val508Met)
|
rs751537483
|
0.00002
|
NM_004415.4(DSP):c.1663A>T (p.Ile555Phe)
|
rs763241703
|
0.00002
|
NM_004415.4(DSP):c.1677G>A (p.Lys559=)
|
rs143356115
|
0.00002
|
NM_004415.4(DSP):c.1744G>A (p.Asp582Asn)
|
rs756671027
|
0.00002
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
NM_004415.4(DSP):c.2027G>A (p.Arg676His)
|
rs777782794
|
0.00002
|
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)
|
rs750383681
|
0.00002
|
NM_004415.4(DSP):c.2275G>A (p.Val759Ile)
|
rs745544854
|
0.00002
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
NM_004415.4(DSP):c.2364A>G (p.Glu788=)
|
rs1397865751
|
0.00002
|
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)
|
rs774638728
|
0.00002
|
NM_004415.4(DSP):c.2568C>T (p.Phe856=)
|
rs746036365
|
0.00002
|
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
|
rs758592774
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004415.4(DSP):c.274-4T>G
|
rs755025350
|
0.00002
|
NM_004415.4(DSP):c.2771T>C (p.Met924Thr)
|
rs752816142
|
0.00002
|
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
NM_004415.4(DSP):c.3243G>A (p.Glu1081=)
|
rs761399419
|
0.00002
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)
|
rs765769174
|
0.00002
|
NM_004415.4(DSP):c.3642T>A (p.Ile1214=)
|
rs755908729
|
0.00002
|
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)
|
rs794728120
|
0.00002
|
NM_004415.4(DSP):c.3729A>G (p.Ser1243=)
|
rs150241609
|
0.00002
|
NM_004415.4(DSP):c.3753T>C (p.Asp1251=)
|
rs749003139
|
0.00002
|
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)
|
rs1262533485
|
0.00002
|
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe)
|
rs775080202
|
0.00002
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)
|
rs759698959
|
0.00002
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)
|
rs764189408
|
0.00002
|
NM_004415.4(DSP):c.3954G>A (p.Lys1318=)
|
rs866656949
|
0.00002
|
NM_004415.4(DSP):c.4005G>A (p.Gln1335=)
|
rs775720924
|
0.00002
|
NM_004415.4(DSP):c.4104C>A (p.Thr1368=)
|
rs1464715776
|
0.00002
|
NM_004415.4(DSP):c.4221A>G (p.Glu1407=)
|
rs144427450
|
0.00002
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)
|
rs763489227
|
0.00002
|
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
|
rs768402359
|
0.00002
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)
|
rs375150075
|
0.00002
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met)
|
rs747582734
|
0.00002
|
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)
|
rs869025393
|
0.00002
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg)
|
rs746139953
|
0.00002
|
NM_004415.4(DSP):c.5084G>A (p.Ser1695Asn)
|
rs758637843
|
0.00002
|
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=)
|
rs201663619
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_004415.4(DSP):c.5358A>G (p.Lys1786=)
|
rs771810995
|
0.00002
|
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
NM_004415.4(DSP):c.5655A>G (p.Arg1885=)
|
rs768996277
|
0.00002
|
NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr)
|
rs752360866
|
0.00002
|
NM_004415.4(DSP):c.5913G>T (p.Leu1971=)
|
rs373416071
|
0.00002
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
NM_004415.4(DSP):c.5935C>G (p.Gln1979Glu)
|
rs773436512
|
0.00002
|
NM_004415.4(DSP):c.6054C>T (p.Ile2018=)
|
rs369700204
|
0.00002
|
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr)
|
rs1043978096
|
0.00002
|
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)
|
rs751050235
|
0.00002
|
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)
|
rs755069593
|
0.00002
|
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)
|
rs766950975
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly)
|
rs752740718
|
0.00002
|
NM_004415.4(DSP):c.6516T>C (p.Phe2172=)
|
rs1266595950
|
0.00002
|
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)
|
rs730880088
|
0.00002
|
NM_004415.4(DSP):c.6597C>T (p.Leu2199=)
|
rs567782337
|
0.00002
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
NM_004415.4(DSP):c.6690G>A (p.Pro2230=)
|
rs145751089
|
0.00002
|
NM_004415.4(DSP):c.6732C>T (p.Asp2244=)
|
rs764124433
|
0.00002
|
NM_004415.4(DSP):c.6762C>T (p.Leu2254=)
|
rs138683913
|
0.00002
|
NM_004415.4(DSP):c.7074C>T (p.Leu2358=)
|
rs766369241
|
0.00002
|
NM_004415.4(DSP):c.7116C>T (p.Ile2372=)
|
rs185213858
|
0.00002
|
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)
|
rs373965771
|
0.00002
|
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)
|
rs777930834
|
0.00002
|
NM_004415.4(DSP):c.7185C>T (p.Gly2395=)
|
rs1296848321
|
0.00002
|
NM_004415.4(DSP):c.7191C>T (p.Phe2397=)
|
rs150574081
|
0.00002
|
NM_004415.4(DSP):c.7197G>A (p.Glu2399=)
|
rs372594837
|
0.00002
|
NM_004415.4(DSP):c.72G>A (p.Pro24=)
|
rs780463807
|
0.00002
|
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)
|
rs794728132
|
0.00002
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7787T>C (p.Ile2596Thr)
|
rs770590535
|
0.00002
|
NM_004415.4(DSP):c.7836C>T (p.Thr2612=)
|
rs762381028
|
0.00002
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004415.4(DSP):c.797T>C (p.Met266Thr)
|
rs370890663
|
0.00002
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu)
|
rs772365921
|
0.00002
|
NM_004415.4(DSP):c.8109A>G (p.Gly2703=)
|
rs78736738
|
0.00002
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
NM_004415.4(DSP):c.8256G>A (p.Arg2752=)
|
rs1313648350
|
0.00002
|
NM_004415.4(DSP):c.8279C>T (p.Ala2760Val)
|
rs774309765
|
0.00002
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
NM_004415.4(DSP):c.8484C>G (p.Gly2828=)
|
rs1467235605
|
0.00002
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
NM_004415.4(DSP):c.939+16G>A
|
rs781034092
|
0.00002
|
NM_004415.4(DSP):c.940-15T>C
|
rs766635749
|
0.00002
|
NM_006073.4(TRDN):c.1098A>C (p.Ala366=)
|
rs1425417640
|
0.00002
|
NM_006073.4(TRDN):c.117C>T (p.Asp39=)
|
rs750571542
|
0.00002
|
NM_006073.4(TRDN):c.1186+11G>T
|
rs1476535612
|
0.00002
|
NM_006073.4(TRDN):c.1625-17C>A
|
rs543749199
|
0.00002
|
NM_006073.4(TRDN):c.1776A>C (p.Ile592=)
|
rs367716265
|
0.00002
|
NM_006073.4(TRDN):c.1871-6A>G
|
rs185268405
|
0.00002
|
NM_006073.4(TRDN):c.1951+16G>A
|
rs377046739
|
0.00002
|
NM_006073.4(TRDN):c.484+7del
|
rs764922806
|
0.00002
|
NM_006073.4(TRDN):c.485-7T>C
|
rs921833812
|
0.00002
|
NM_006073.4(TRDN):c.551-4T>C
|
rs1413167708
|
0.00002
|
NM_006073.4(TRDN):c.931+10T>A
|
rs754118635
|
0.00002
|
NM_006073.4(TRDN):c.992-12T>C
|
rs1184620677
|
0.00002
|
NM_013266.4(CTNNA3):c.1176G>A (p.Thr392=)
|
rs138898184
|
0.00002
|
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=)
|
rs1046657762
|
0.00002
|
NM_013266.4(CTNNA3):c.1488C>T (p.Ala496=)
|
rs774425528
|
0.00002
|
NM_013266.4(CTNNA3):c.1531+10T>G
|
rs370348361
|
0.00002
|
NM_013266.4(CTNNA3):c.1695A>G (p.Glu565=)
|
rs755301482
|
0.00002
|
NM_013266.4(CTNNA3):c.1740T>C (p.Pro580=)
|
rs775370911
|
0.00002
|
NM_013266.4(CTNNA3):c.1885-16T>C
|
rs754598894
|
0.00002
|
NM_013266.4(CTNNA3):c.1885-9T>C
|
rs766156283
|
0.00002
|
NM_013266.4(CTNNA3):c.2647T>C (p.Leu883=)
|
rs751884087
|
0.00002
|
NM_013266.4(CTNNA3):c.540G>A (p.Glu180=)
|
rs538926380
|
0.00002
|
NM_013266.4(CTNNA3):c.66C>T (p.Thr22=)
|
rs761454862
|
0.00002
|
NM_013266.4(CTNNA3):c.843+7C>T
|
rs1479648857
|
0.00002
|
NM_013266.4(CTNNA3):c.894A>G (p.Pro298=)
|
rs1219455652
|
0.00002
|
NM_013266.4(CTNNA3):c.945G>A (p.Ala315=)
|
rs375992799
|
0.00002
|
NM_024334.3(TMEM43):c.1000+16G>A
|
rs377252553
|
0.00002
|
NM_024334.3(TMEM43):c.1001-7T>C
|
rs781382808
|
0.00002
|
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=)
|
rs1055842863
|
0.00002
|
NM_024334.3(TMEM43):c.216G>A (p.Val72=)
|
rs943527392
|
0.00002
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
NM_024334.3(TMEM43):c.468C>T (p.Ile156=)
|
rs769654404
|
0.00002
|
NM_024334.3(TMEM43):c.600C>T (p.Val200=)
|
rs760323011
|
0.00002
|
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn)
|
rs138182276
|
0.00002
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
NM_024334.3(TMEM43):c.781-4C>T
|
rs1445555724
|
0.00002
|
NM_024422.6(DSC2):c.1263+10A>G
|
rs1462640047
|
0.00002
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
NM_024422.6(DSC2):c.1875G>C (p.Leu625=)
|
rs142594406
|
0.00002
|
NM_024422.6(DSC2):c.1986T>G (p.Thr662=)
|
rs757613258
|
0.00002
|
NM_024422.6(DSC2):c.2031C>T (p.Cys677=)
|
rs754488475
|
0.00002
|
NM_024422.6(DSC2):c.2126-20A>T
|
rs779297158
|
0.00002
|
NM_024422.6(DSC2):c.2163G>A (p.Thr721=)
|
rs773220437
|
0.00002
|
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=)
|
rs370144781
|
0.00002
|
NM_024422.6(DSC2):c.27C>T (p.Ser9=)
|
rs1406804472
|
0.00002
|
NM_024422.6(DSC2):c.324A>G (p.Lys108=)
|
rs779651366
|
0.00002
|
NM_024422.6(DSC2):c.360A>G (p.Leu120=)
|
rs375772629
|
0.00002
|
NM_024422.6(DSC2):c.489G>A (p.Thr163=)
|
rs752952811
|
0.00002
|
NM_024422.6(DSC2):c.69+9A>G
|
rs1268711423
|
0.00002
|
NM_024422.6(DSC2):c.750T>C (p.Phe250=)
|
rs781667894
|
0.00002
|
NM_001005242.3(PKP2):c.1035-9T>C
|
rs1057522716
|
0.00001
|
NM_001005242.3(PKP2):c.1086A>G (p.Ala362=)
|
rs376167178
|
0.00001
|
NM_001005242.3(PKP2):c.1104C>T (p.Ser368=)
|
rs892666132
|
0.00001
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
NM_001005242.3(PKP2):c.1326G>A (p.Leu442=)
|
rs377076035
|
0.00001
|
NM_001005242.3(PKP2):c.1329C>G (p.Leu443=)
|
rs1365569704
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2023C>T
|
rs587781108
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2044C>T
|
rs1420856333
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2112A>G
|
rs367657856
|
0.00001
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
NM_001005242.3(PKP2):c.1419T>C (p.Asn473=)
|
rs757126132
|
0.00001
|
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=)
|
rs370753286
|
0.00001
|
NM_001005242.3(PKP2):c.1476T>C (p.Ser492=)
|
rs751082209
|
0.00001
|
NM_001005242.3(PKP2):c.1515G>A (p.Leu505=)
|
rs148533214
|
0.00001
|
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=)
|
rs1320642436
|
0.00001
|
NM_001005242.3(PKP2):c.1557-7del
|
rs1258853212
|
0.00001
|
NM_001005242.3(PKP2):c.1641A>G (p.Arg547=)
|
rs1264399626
|
0.00001
|
NM_001005242.3(PKP2):c.165G>T (p.Arg55=)
|
rs1472609900
|
0.00001
|
NM_001005242.3(PKP2):c.1674+13A>C
|
rs768698663
|
0.00001
|
NM_001005242.3(PKP2):c.1674+7C>G
|
rs868645170
|
0.00001
|
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=)
|
rs773662874
|
0.00001
|
NM_001005242.3(PKP2):c.1840-10G>C
|
rs768000598
|
0.00001
|
NM_001005242.3(PKP2):c.1840-13T>C
|
rs533952272
|
0.00001
|
NM_001005242.3(PKP2):c.192C>A (p.Leu64=)
|
rs768376044
|
0.00001
|
NM_001005242.3(PKP2):c.1932C>T (p.Ser644=)
|
rs763042549
|
0.00001
|
NM_001005242.3(PKP2):c.2013+6_2013+9dup
|
rs768133889
|
0.00001
|
NM_001005242.3(PKP2):c.2014-12C>G
|
rs990954323
|
0.00001
|
NM_001005242.3(PKP2):c.2014-7A>G
|
rs1555141645
|
0.00001
|
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)
|
rs587781109
|
0.00001
|
NM_001005242.3(PKP2):c.2168-5T>C
|
rs1227875716
|
0.00001
|
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)
|
rs753226330
|
0.00001
|
NM_001005242.3(PKP2):c.224-11C>A
|
rs928408888
|
0.00001
|
NM_001005242.3(PKP2):c.224-4G>A
|
rs1186431446
|
0.00001
|
NM_001005242.3(PKP2):c.224-9T>C
|
rs1238184418
|
0.00001
|
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=)
|
rs139258347
|
0.00001
|
NM_001005242.3(PKP2):c.2358-6T>C
|
rs761613652
|
0.00001
|
NM_001005242.3(PKP2):c.2379T>C (p.Ser793=)
|
rs532024812
|
0.00001
|
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=)
|
rs772225819
|
0.00001
|
NM_001005242.3(PKP2):c.2409G>A (p.Leu803=)
|
rs374689137
|
0.00001
|
NM_001005242.3(PKP2):c.2445+9A>G
|
rs770027185
|
0.00001
|
NM_001005242.3(PKP2):c.2446-8T>C
|
rs794729101
|
0.00001
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
NM_001005242.3(PKP2):c.2502C>T (p.Ser834=)
|
rs763095604
|
0.00001
|
NM_001005242.3(PKP2):c.39C>T (p.Ile13=)
|
rs770102631
|
0.00001
|
NM_001005242.3(PKP2):c.405C>T (p.Ser135=)
|
rs775423741
|
0.00001
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
NM_001005242.3(PKP2):c.492C>T (p.Ser164=)
|
rs747582030
|
0.00001
|
NM_001005242.3(PKP2):c.498C>T (p.Tyr166=)
|
rs772439804
|
0.00001
|
NM_001005242.3(PKP2):c.525G>A (p.Gly175=)
|
rs748807540
|
0.00001
|
NM_001005242.3(PKP2):c.681C>T (p.Ser227=)
|
rs762263587
|
0.00001
|
NM_001005242.3(PKP2):c.720G>A (p.Leu240=)
|
rs777567315
|
0.00001
|
NM_001005242.3(PKP2):c.726G>A (p.Thr242=)
|
rs866886453
|
0.00001
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
NM_001005242.3(PKP2):c.903G>A (p.Leu301=)
|
rs934225556
|
0.00001
|
NM_001005242.3(PKP2):c.909A>G (p.Glu303=)
|
rs376001513
|
0.00001
|
NM_001005242.3(PKP2):c.915G>A (p.Gly305=)
|
rs1274553859
|
0.00001
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
NM_001005242.3(PKP2):c.975C>T (p.Ala325=)
|
rs369921166
|
0.00001
|
NM_001005242.3(PKP2):c.994C>T (p.Leu332=)
|
rs1956945387
|
0.00001
|
NM_001035.3(RYR2):c.10002G>A (p.Val3334=)
|
rs1265756833
|
0.00001
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=)
|
rs144428932
|
0.00001
|
NM_001035.3(RYR2):c.1006-6C>T
|
rs1010185386
|
0.00001
|
NM_001035.3(RYR2):c.10119G>A (p.Leu3373=)
|
rs1363597090
|
0.00001
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
NM_001035.3(RYR2):c.10143-10T>C
|
rs1300930938
|
0.00001
|
NM_001035.3(RYR2):c.10161G>A (p.Glu3387=)
|
rs1391492847
|
0.00001
|
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)
|
rs764084155
|
0.00001
|
NM_001035.3(RYR2):c.10191C>A (p.Arg3397=)
|
rs1029985619
|
0.00001
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
NM_001035.3(RYR2):c.10220C>T (p.Ser3407Leu)
|
rs780287361
|
0.00001
|
NM_001035.3(RYR2):c.10230+15A>G
|
rs770179743
|
0.00001
|
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)
|
rs748715725
|
0.00001
|
NM_001035.3(RYR2):c.10323+19T>A
|
rs765263725
|
0.00001
|
NM_001035.3(RYR2):c.10324-13C>G
|
rs1188052509
|
0.00001
|
NM_001035.3(RYR2):c.10389C>T (p.Thr3463=)
|
rs878854151
|
0.00001
|
NM_001035.3(RYR2):c.1038A>G (p.Val346=)
|
rs796573345
|
0.00001
|
NM_001035.3(RYR2):c.10524A>T (p.Ile3508=)
|
rs770094996
|
0.00001
|
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
NM_001035.3(RYR2):c.10555-10T>C
|
rs540655909
|
0.00001
|
NM_001035.3(RYR2):c.10555-4G>A
|
rs1309517155
|
0.00001
|
NM_001035.3(RYR2):c.10581A>G (p.Gln3527=)
|
rs760635634
|
0.00001
|
NM_001035.3(RYR2):c.10615G>A (p.Asp3539Asn)
|
rs766991919
|
0.00001
|
NM_001035.3(RYR2):c.10662A>T (p.Ile3554=)
|
rs1558290857
|
0.00001
|
NM_001035.3(RYR2):c.10725+17A>G
|
rs562857494
|
0.00001
|
NM_001035.3(RYR2):c.10767A>G (p.Lys3589=)
|
rs1176468756
|
0.00001
|
NM_001035.3(RYR2):c.10956A>G (p.Pro3652=)
|
rs765137450
|
0.00001
|
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)
|
rs758125356
|
0.00001
|
NM_001035.3(RYR2):c.11039+13G>T
|
rs727504882
|
0.00001
|
NM_001035.3(RYR2):c.11040-6C>T
|
rs764492350
|
0.00001
|
NM_001035.3(RYR2):c.11040-8T>C
|
rs1346619924
|
0.00001
|
NM_001035.3(RYR2):c.11055T>C (p.Asp3685=)
|
rs368014495
|
0.00001
|
NM_001035.3(RYR2):c.11112T>C (p.Asp3704=)
|
rs779013786
|
0.00001
|
NM_001035.3(RYR2):c.11118T>C (p.Asp3706=)
|
rs1691685791
|
0.00001
|
NM_001035.3(RYR2):c.11127G>A (p.Glu3709=)
|
rs777292211
|
0.00001
|
NM_001035.3(RYR2):c.11131G>A (p.Val3711Met)
|
rs1307926430
|
0.00001
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
NM_001035.3(RYR2):c.11196C>T (p.His3732=)
|
rs774786081
|
0.00001
|
NM_001035.3(RYR2):c.11205C>T (p.Gly3735=)
|
rs756763032
|
0.00001
|
NM_001035.3(RYR2):c.11229A>C (p.Thr3743=)
|
rs755203769
|
0.00001
|
NM_001035.3(RYR2):c.11245+14A>G
|
rs566690905
|
0.00001
|
NM_001035.3(RYR2):c.11250A>C (p.Glu3750Asp)
|
rs769433180
|
0.00001
|
NM_001035.3(RYR2):c.11252C>G (p.Thr3751Ser)
|
rs772768256
|
0.00001
|
NM_001035.3(RYR2):c.11307G>A (p.Gly3769=)
|
rs1253833653
|
0.00001
|
NM_001035.3(RYR2):c.11326-4A>G
|
rs727504876
|
0.00001
|
NM_001035.3(RYR2):c.11385C>G (p.Gly3795=)
|
rs919989129
|
0.00001
|
NM_001035.3(RYR2):c.11477-14T>C
|
rs1219270773
|
0.00001
|
NM_001035.3(RYR2):c.11477-20T>A
|
rs1347306061
|
0.00001
|
NM_001035.3(RYR2):c.11558-15T>C
|
rs753142009
|
0.00001
|
NM_001035.3(RYR2):c.11592T>C (p.Asn3864=)
|
rs1335514890
|
0.00001
|
NM_001035.3(RYR2):c.11601T>C (p.Thr3867=)
|
rs1226933021
|
0.00001
|
NM_001035.3(RYR2):c.11613T>C (p.Ile3871=)
|
rs375364162
|
0.00001
|
NM_001035.3(RYR2):c.11622T>G (p.Thr3874=)
|
rs1258139963
|
0.00001
|
NM_001035.3(RYR2):c.11634A>G (p.Leu3878=)
|
rs587781143
|
0.00001
|
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)
|
rs397516506
|
0.00001
|
NM_001035.3(RYR2):c.11647-18A>G
|
rs772991575
|
0.00001
|
NM_001035.3(RYR2):c.11647-5C>T
|
rs1470967404
|
0.00001
|
NM_001035.3(RYR2):c.1170+10T>C
|
rs760377600
|
0.00001
|
NM_001035.3(RYR2):c.11776-6C>T
|
rs761155489
|
0.00001
|
NM_001035.3(RYR2):c.11859T>C (p.His3953=)
|
rs751268867
|
0.00001
|
NM_001035.3(RYR2):c.11922G>A (p.Leu3974=)
|
rs769084479
|
0.00001
|
NM_001035.3(RYR2):c.11958A>G (p.Leu3986=)
|
rs762362078
|
0.00001
|
NM_001035.3(RYR2):c.11962+10A>T
|
rs1060503854
|
0.00001
|
NM_001035.3(RYR2):c.11962+17C>G
|
rs770285624
|
0.00001
|
NM_001035.3(RYR2):c.11963-9T>C
|
rs113583794
|
0.00001
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
NM_001035.3(RYR2):c.12153G>A (p.Ala4051=)
|
rs768288201
|
0.00001
|
NM_001035.3(RYR2):c.12168G>A (p.Lys4056=)
|
rs1573932788
|
0.00001
|
NM_001035.3(RYR2):c.12174C>T (p.Tyr4058=)
|
rs766262728
|
0.00001
|
NM_001035.3(RYR2):c.12198T>G (p.Leu4066=)
|
rs767815859
|
0.00001
|
NM_001035.3(RYR2):c.12234C>T (p.Leu4078=)
|
rs769308688
|
0.00001
|
NM_001035.3(RYR2):c.12273G>A (p.Ala4091=)
|
rs966083978
|
0.00001
|
NM_001035.3(RYR2):c.12297C>T (p.Ala4099=)
|
rs369971378
|
0.00001
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
NM_001035.3(RYR2):c.12336T>C (p.Asp4112=)
|
rs770434178
|
0.00001
|
NM_001035.3(RYR2):c.12366A>G (p.Ala4122=)
|
rs373185648
|
0.00001
|
NM_001035.3(RYR2):c.12387C>T (p.Phe4129=)
|
rs1238580758
|
0.00001
|
NM_001035.3(RYR2):c.12397C>T (p.Leu4133=)
|
rs1553322794
|
0.00001
|
NM_001035.3(RYR2):c.12435C>T (p.Ile4145=)
|
rs954641240
|
0.00001
|
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=)
|
rs751897207
|
0.00001
|
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=)
|
rs777321777
|
0.00001
|
NM_001035.3(RYR2):c.12549A>G (p.Lys4183=)
|
rs760519665
|
0.00001
|
NM_001035.3(RYR2):c.12621G>A (p.Ser4207=)
|
rs969138992
|
0.00001
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)
|
rs1178157004
|
0.00001
|
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)
|
rs1323430299
|
0.00001
|
NM_001035.3(RYR2):c.12693G>A (p.Pro4231=)
|
rs748387463
|
0.00001
|
NM_001035.3(RYR2):c.12715C>T (p.Leu4239=)
|
rs766396305
|
0.00001
|
NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)
|
rs774851947
|
0.00001
|
NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser)
|
rs750064223
|
0.00001
|
NM_001035.3(RYR2):c.12786G>A (p.Lys4262=)
|
rs374332015
|
0.00001
|
NM_001035.3(RYR2):c.12906C>T (p.Phe4302=)
|
rs1265667422
|
0.00001
|
NM_001035.3(RYR2):c.12912C>G (p.Gly4304=)
|
rs1245462519
|
0.00001
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
NM_001035.3(RYR2):c.12927T>A (p.Ile4309=)
|
rs777132279
|
0.00001
|
NM_001035.3(RYR2):c.1293-7A>G
|
rs1185030643
|
0.00001
|
NM_001035.3(RYR2):c.12954C>T (p.Leu4318=)
|
rs1055906213
|
0.00001
|
NM_001035.3(RYR2):c.12960A>G (p.Glu4320=)
|
rs1456795811
|
0.00001
|
NM_001035.3(RYR2):c.12991T>C (p.Leu4331=)
|
rs1327823442
|
0.00001
|
NM_001035.3(RYR2):c.13068C>T (p.Ala4356=)
|
rs779932052
|
0.00001
|
NM_001035.3(RYR2):c.1320G>A (p.Ala440=)
|
rs887478410
|
0.00001
|
NM_001035.3(RYR2):c.13212C>T (p.Asp4404=)
|
rs758548582
|
0.00001
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu)
|
rs1029442866
|
0.00001
|
NM_001035.3(RYR2):c.13261-11A>T
|
rs1391876423
|
0.00001
|
NM_001035.3(RYR2):c.13301A>C (p.Glu4434Ala)
|
rs771286329
|
0.00001
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
NM_001035.3(RYR2):c.13329-10G>C
|
rs754319442
|
0.00001
|
NM_001035.3(RYR2):c.13329-15T>C
|
rs1188175665
|
0.00001
|
NM_001035.3(RYR2):c.1335C>T (p.Val445=)
|
rs573201028
|
0.00001
|
NM_001035.3(RYR2):c.13399A>G (p.Thr4467Ala)
|
rs774270919
|
0.00001
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
NM_001035.3(RYR2):c.13425G>T (p.Val4475=)
|
rs760691911
|
0.00001
|
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=)
|
rs1008224442
|
0.00001
|
NM_001035.3(RYR2):c.13477-5C>T
|
rs1412300643
|
0.00001
|
NM_001035.3(RYR2):c.13477-9C>T
|
rs1351628892
|
0.00001
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
NM_001035.3(RYR2):c.1353C>T (p.Ser451=)
|
rs764245031
|
0.00001
|
NM_001035.3(RYR2):c.13564-18T>A
|
rs776614513
|
0.00001
|
NM_001035.3(RYR2):c.13564-7G>C
|
rs765254375
|
0.00001
|
NM_001035.3(RYR2):c.13604C>T (p.Thr4535Met)
|
rs756839134
|
0.00001
|
NM_001035.3(RYR2):c.13623T>C (p.Asn4541=)
|
rs1389335931
|
0.00001
|
NM_001035.3(RYR2):c.13647C>T (p.Ser4549=)
|
rs1166610736
|
0.00001
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
NM_001035.3(RYR2):c.13681C>T (p.Leu4561=)
|
rs372599604
|
0.00001
|
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)
|
rs1268914442
|
0.00001
|
NM_001035.3(RYR2):c.13743C>G (p.Val4581=)
|
rs377670364
|
0.00001
|
NM_001035.3(RYR2):c.13783-4G>A
|
rs1364773484
|
0.00001
|
NM_001035.3(RYR2):c.13788A>T (p.Pro4596=)
|
rs368675632
|
0.00001
|
NM_001035.3(RYR2):c.13806A>G (p.Arg4602=)
|
rs1230311017
|
0.00001
|
NM_001035.3(RYR2):c.13902A>C (p.Val4634=)
|
rs1449876826
|
0.00001
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
NM_001035.3(RYR2):c.13957-10A>G
|
rs780730833
|
0.00001
|
NM_001035.3(RYR2):c.14031G>A (p.Leu4677=)
|
rs1334803515
|
0.00001
|
NM_001035.3(RYR2):c.14040T>C (p.Ser4680=)
|
rs938907868
|
0.00001
|
NM_001035.3(RYR2):c.14055G>A (p.Lys4685=)
|
rs765409439
|
0.00001
|
NM_001035.3(RYR2):c.1405C>T (p.His469Tyr)
|
rs776288769
|
0.00001
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
NM_001035.3(RYR2):c.14090+15G>A
|
rs375767595
|
0.00001
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
NM_001035.3(RYR2):c.14301C>T (p.Leu4767=)
|
rs369715118
|
0.00001
|
NM_001035.3(RYR2):c.14409T>C (p.Asp4803=)
|
rs878891404
|
0.00001
|
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)
|
rs397516515
|
0.00001
|
NM_001035.3(RYR2):c.14433+10T>A
|
rs1174588915
|
0.00001
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
NM_001035.3(RYR2):c.14502A>G (p.Pro4834=)
|
rs368463791
|
0.00001
|
NM_001035.3(RYR2):c.14590+11T>C
|
rs750269889
|
0.00001
|
NM_001035.3(RYR2):c.14591-4C>T
|
rs1298987321
|
0.00001
|
NM_001035.3(RYR2):c.14625C>T (p.Asp4875=)
|
rs1184589246
|
0.00001
|
NM_001035.3(RYR2):c.14733G>A (p.Gln4911=)
|
rs751453181
|
0.00001
|
NM_001035.3(RYR2):c.14757-14C>A
|
rs1574129539
|
0.00001
|
NM_001035.3(RYR2):c.1477-7G>A
|
rs763127313
|
0.00001
|
NM_001035.3(RYR2):c.14781C>T (p.Asn4927=)
|
rs559218380
|
0.00001
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
NM_001035.3(RYR2):c.14809-10A>T
|
rs1455014769
|
0.00001
|
NM_001035.3(RYR2):c.14811A>G (p.Glu4937=)
|
rs1282956982
|
0.00001
|
NM_001035.3(RYR2):c.14850A>G (p.Glu4950=)
|
rs947052066
|
0.00001
|
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)
|
rs1309242606
|
0.00001
|
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)
|
rs886042568
|
0.00001
|
NM_001035.3(RYR2):c.1575T>C (p.Ser525=)
|
rs576451595
|
0.00001
|
NM_001035.3(RYR2):c.1612+7A>C
|
rs371061260
|
0.00001
|
NM_001035.3(RYR2):c.1613-12C>A
|
rs1343902398
|
0.00001
|
NM_001035.3(RYR2):c.1613-9C>T
|
rs757051500
|
0.00001
|
NM_001035.3(RYR2):c.1617T>C (p.Ala539=)
|
rs1274422759
|
0.00001
|
NM_001035.3(RYR2):c.171T>C (p.Asn57=)
|
rs1355336223
|
0.00001
|
NM_001035.3(RYR2):c.177C>T (p.Pro59=)
|
rs1274699222
|
0.00001
|
NM_001035.3(RYR2):c.1930T>C (p.Leu644=)
|
rs373160383
|
0.00001
|
NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)
|
rs374277541
|
0.00001
|
NM_001035.3(RYR2):c.2022C>T (p.Tyr674=)
|
rs1411379557
|
0.00001
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
NM_001035.3(RYR2):c.2204-14T>G
|
rs767973692
|
0.00001
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
NM_001035.3(RYR2):c.2275T>A (p.Leu759Ile)
|
rs768063536
|
0.00001
|
NM_001035.3(RYR2):c.2373C>T (p.Val791=)
|
rs770431899
|
0.00001
|
NM_001035.3(RYR2):c.2379T>C (p.Ser793=)
|
rs1230175710
|
0.00001
|
NM_001035.3(RYR2):c.2457T>C (p.Tyr819=)
|
rs776868355
|
0.00001
|
NM_001035.3(RYR2):c.2484A>G (p.Pro828=)
|
rs1323860626
|
0.00001
|
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)
|
rs764043352
|
0.00001
|
NM_001035.3(RYR2):c.2551C>T (p.Leu851=)
|
rs1487401743
|
0.00001
|
NM_001035.3(RYR2):c.2562A>G (p.Thr854=)
|
rs727503398
|
0.00001
|
NM_001035.3(RYR2):c.2614-11G>C
|
rs778125348
|
0.00001
|
NM_001035.3(RYR2):c.2614-12T>C
|
rs928458049
|
0.00001
|
NM_001035.3(RYR2):c.2616C>T (p.Ile872=)
|
rs376641425
|
0.00001
|
NM_001035.3(RYR2):c.2632C>T (p.Leu878=)
|
rs376834009
|
0.00001
|
NM_001035.3(RYR2):c.2642T>G (p.Ile881Arg)
|
rs762792701
|
0.00001
|
NM_001035.3(RYR2):c.2698C>T (p.Leu900Phe)
|
rs754314526
|
0.00001
|
NM_001035.3(RYR2):c.2712T>C (p.Tyr904=)
|
rs758586059
|
0.00001
|
NM_001035.3(RYR2):c.2719-10C>A
|
rs898992768
|
0.00001
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
NM_001035.3(RYR2):c.274-10C>G
|
rs1699258662
|
0.00001
|
NM_001035.3(RYR2):c.2745C>T (p.His915=)
|
rs754398749
|
0.00001
|
NM_001035.3(RYR2):c.2784G>A (p.Glu928=)
|
rs1183256756
|
0.00001
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
NM_001035.3(RYR2):c.2922T>C (p.Ser974=)
|
rs750392459
|
0.00001
|
NM_001035.3(RYR2):c.294+13A>C
|
rs773161376
|
0.00001
|
NM_001035.3(RYR2):c.2949G>A (p.Leu983=)
|
rs926827556
|
0.00001
|
NM_001035.3(RYR2):c.295-8C>T
|
rs764545272
|
0.00001
|
NM_001035.3(RYR2):c.3015T>C (p.Asn1005=)
|
rs758290360
|
0.00001
|
NM_001035.3(RYR2):c.3057C>A (p.Gly1019=)
|
rs1343531428
|
0.00001
|
NM_001035.3(RYR2):c.3066+11A>G
|
rs764894788
|
0.00001
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
NM_001035.3(RYR2):c.3069C>T (p.Asp1023=)
|
rs751382226
|
0.00001
|
NM_001035.3(RYR2):c.309+16A>G
|
rs886038386
|
0.00001
|
NM_001035.3(RYR2):c.310-16T>G
|
rs1558698164
|
0.00001
|
NM_001035.3(RYR2):c.310-5T>G
|
rs1487803250
|
0.00001
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
NM_001035.3(RYR2):c.3108T>C (p.Thr1036=)
|
rs1439044859
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.3214+9G>A
|
rs377240715
|
0.00001
|
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)
|
rs781547572
|
0.00001
|
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)
|
rs727504969
|
0.00001
|
NM_001035.3(RYR2):c.3240C>T (p.Gly1080=)
|
rs745511565
|
0.00001
|
NM_001035.3(RYR2):c.3294C>T (p.Ala1098=)
|
rs773622667
|
0.00001
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
NM_001035.3(RYR2):c.3417C>T (p.Gly1139=)
|
rs1368724013
|
0.00001
|
NM_001035.3(RYR2):c.3424-4A>G
|
rs1170393191
|
0.00001
|
NM_001035.3(RYR2):c.3431G>A (p.Arg1144Gln)
|
rs193125030
|
0.00001
|
NM_001035.3(RYR2):c.3456T>C (p.Tyr1152=)
|
rs762130498
|
0.00001
|
NM_001035.3(RYR2):c.3513C>T (p.His1171=)
|
rs924029503
|
0.00001
|
NM_001035.3(RYR2):c.3594C>T (p.Gly1198=)
|
rs185212949
|
0.00001
|
NM_001035.3(RYR2):c.3598+16T>G
|
rs886038387
|
0.00001
|
NM_001035.3(RYR2):c.3599-13T>C
|
rs1420645453
|
0.00001
|
NM_001035.3(RYR2):c.3622G>A (p.Gly1208Arg)
|
rs770286824
|
0.00001
|
NM_001035.3(RYR2):c.3648C>T (p.Asn1216=)
|
rs983874662
|
0.00001
|
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)
|
rs190884873
|
0.00001
|
NM_001035.3(RYR2):c.3807+20A>G
|
rs1377676188
|
0.00001
|
NM_001035.3(RYR2):c.3808-17G>A
|
rs374061574
|
0.00001
|
NM_001035.3(RYR2):c.3808-18C>T
|
rs996356470
|
0.00001
|
NM_001035.3(RYR2):c.3808-20A>G
|
rs1420964292
|
0.00001
|
NM_001035.3(RYR2):c.3808-9G>A
|
rs557880129
|
0.00001
|
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)
|
rs746350036
|
0.00001
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
NM_001035.3(RYR2):c.3910C>T (p.Leu1304=)
|
rs555317545
|
0.00001
|
NM_001035.3(RYR2):c.3924C>T (p.Ile1308=)
|
rs761010650
|
0.00001
|
NM_001035.3(RYR2):c.3930C>T (p.Cys1310=)
|
rs764454542
|
0.00001
|
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)
|
rs757471928
|
0.00001
|
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)
|
rs752107643
|
0.00001
|
NM_001035.3(RYR2):c.3987G>A (p.Gly1329=)
|
rs775470259
|
0.00001
|
NM_001035.3(RYR2):c.4095T>G (p.Ala1365=)
|
rs376401462
|
0.00001
|
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)
|
rs531412940
|
0.00001
|
NM_001035.3(RYR2):c.4161-17C>T
|
rs1237981976
|
0.00001
|
NM_001035.3(RYR2):c.4182G>A (p.Lys1394=)
|
rs953147627
|
0.00001
|
NM_001035.3(RYR2):c.4191C>T (p.Tyr1397=)
|
rs753181426
|
0.00001
|
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=)
|
rs727505126
|
0.00001
|
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=)
|
rs754504287
|
0.00001
|
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=)
|
rs759662492
|
0.00001
|
NM_001035.3(RYR2):c.4275+7G>T
|
rs1573005697
|
0.00001
|
NM_001035.3(RYR2):c.4276-10A>G
|
rs551064291
|
0.00001
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
NM_001035.3(RYR2):c.4305A>G (p.Gly1435=)
|
rs776968385
|
0.00001
|
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=)
|
rs1054102228
|
0.00001
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
NM_001035.3(RYR2):c.4389C>T (p.Arg1463=)
|
rs1391863207
|
0.00001
|
NM_001035.3(RYR2):c.4398A>G (p.Thr1466=)
|
rs1431223559
|
0.00001
|
NM_001035.3(RYR2):c.4428G>A (p.Val1476=)
|
rs747148516
|
0.00001
|
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)
|
rs564869863
|
0.00001
|
NM_001035.3(RYR2):c.4452C>T (p.Asn1484=)
|
rs1291160405
|
0.00001
|
NM_001035.3(RYR2):c.4458T>C (p.Tyr1486=)
|
rs780368223
|
0.00001
|
NM_001035.3(RYR2):c.4503C>A (p.Asn1501Lys)
|
rs794728735
|
0.00001
|
NM_001035.3(RYR2):c.4587A>G (p.Thr1529=)
|
rs373148393
|
0.00001
|
NM_001035.3(RYR2):c.4596+16T>C
|
rs755095790
|
0.00001
|
NM_001035.3(RYR2):c.4596+7G>A
|
rs1008000319
|
0.00001
|
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)
|
rs1272771676
|
0.00001
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
NM_001035.3(RYR2):c.4641T>G (p.Ala1547=)
|
rs1676561693
|
0.00001
|
NM_001035.3(RYR2):c.4653T>C (p.Asn1551=)
|
rs759834317
|
0.00001
|
NM_001035.3(RYR2):c.4668G>A (p.Glu1556=)
|
rs370332700
|
0.00001
|
NM_001035.3(RYR2):c.4680A>C (p.Ile1560=)
|
rs754412394
|
0.00001
|
NM_001035.3(RYR2):c.4683+18T>C
|
rs371394153
|
0.00001
|
NM_001035.3(RYR2):c.4683+7A>T
|
rs757658900
|
0.00001
|
NM_001035.3(RYR2):c.4684-4C>T
|
rs748788260
|
0.00001
|
NM_001035.3(RYR2):c.468G>A (p.Glu156=)
|
rs763840882
|
0.00001
|
NM_001035.3(RYR2):c.4701G>A (p.Ser1567=)
|
rs775379095
|
0.00001
|
NM_001035.3(RYR2):c.4710A>G (p.Leu1570=)
|
rs1401322778
|
0.00001
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=)
|
rs768562077
|
0.00001
|
NM_001035.3(RYR2):c.4779C>T (p.His1593=)
|
rs769774527
|
0.00001
|
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)
|
rs794728737
|
0.00001
|
NM_001035.3(RYR2):c.4791C>T (p.Ser1597=)
|
rs766910108
|
0.00001
|
NM_001035.3(RYR2):c.48+11T>A
|
rs1273557361
|
0.00001
|
NM_001035.3(RYR2):c.483C>T (p.Thr161=)
|
rs780513819
|
0.00001
|
NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys)
|
rs373079767
|
0.00001
|
NM_001035.3(RYR2):c.49-10C>T
|
rs760891474
|
0.00001
|
NM_001035.3(RYR2):c.49-8C>T
|
rs764876896
|
0.00001
|
NM_001035.3(RYR2):c.4905A>G (p.Glu1635=)
|
rs1028004368
|
0.00001
|
NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)
|
rs3766870
|
0.00001
|
NM_001035.3(RYR2):c.513A>G (p.Glu171=)
|
rs923459089
|
0.00001
|
NM_001035.3(RYR2):c.5149G>T (p.Ala1717Ser)
|
rs547829995
|
0.00001
|
NM_001035.3(RYR2):c.5235A>G (p.Lys1745=)
|
rs755089780
|
0.00001
|
NM_001035.3(RYR2):c.5247A>G (p.Pro1749=)
|
rs779576294
|
0.00001
|
NM_001035.3(RYR2):c.5268C>G (p.Ser1756=)
|
rs768147036
|
0.00001
|
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)
|
rs765106198
|
0.00001
|
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)
|
rs570743152
|
0.00001
|
NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)
|
rs778312204
|
0.00001
|
NM_001035.3(RYR2):c.5406C>T (p.Gly1802=)
|
rs1553522322
|
0.00001
|
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)
|
rs730880192
|
0.00001
|
NM_001035.3(RYR2):c.5466C>T (p.Ile1822=)
|
rs1481865807
|
0.00001
|
NM_001035.3(RYR2):c.5487G>T (p.Leu1829=)
|
rs371250741
|
0.00001
|
NM_001035.3(RYR2):c.5499C>A (p.Ile1833=)
|
rs974906491
|
0.00001
|
NM_001035.3(RYR2):c.555C>T (p.Ser185=)
|
rs369484232
|
0.00001
|
NM_001035.3(RYR2):c.5589G>T (p.Thr1863=)
|
rs778971089
|
0.00001
|
NM_001035.3(RYR2):c.5595G>A (p.Glu1865=)
|
rs1054011849
|
0.00001
|
NM_001035.3(RYR2):c.5598A>G (p.Lys1866=)
|
rs1573126569
|
0.00001
|
NM_001035.3(RYR2):c.561C>T (p.Ser187=)
|
rs1303356039
|
0.00001
|
NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly)
|
rs376441643
|
0.00001
|
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)
|
rs758277755
|
0.00001
|
NM_001035.3(RYR2):c.5700G>A (p.Glu1900=)
|
rs769862888
|
0.00001
|
NM_001035.3(RYR2):c.5710T>C (p.Leu1904=)
|
rs1286936034
|
0.00001
|
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)
|
rs377763336
|
0.00001
|
NM_001035.3(RYR2):c.5715+11C>T
|
rs766754503
|
0.00001
|
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)
|
rs1259517167
|
0.00001
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
NM_001035.3(RYR2):c.5874A>C (p.Thr1958=)
|
rs746302767
|
0.00001
|
NM_001035.3(RYR2):c.5916+9A>G
|
rs1002006336
|
0.00001
|
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)
|
rs773006920
|
0.00001
|
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys)
|
rs767406030
|
0.00001
|
NM_001035.3(RYR2):c.6023-7A>G
|
rs771502164
|
0.00001
|
NM_001035.3(RYR2):c.6042T>C (p.Asp2014=)
|
rs376907409
|
0.00001
|
NM_001035.3(RYR2):c.6096G>C (p.Leu2032=)
|
rs1482965096
|
0.00001
|
NM_001035.3(RYR2):c.6138A>G (p.Lys2046=)
|
rs1388384997
|
0.00001
|
NM_001035.3(RYR2):c.6159A>G (p.Lys2053=)
|
rs779498979
|
0.00001
|
NM_001035.3(RYR2):c.6166+10A>G
|
rs776614601
|
0.00001
|
NM_001035.3(RYR2):c.6167-15A>G
|
rs1559136122
|
0.00001
|
NM_001035.3(RYR2):c.6167-4G>A
|
rs1290343163
|
0.00001
|
NM_001035.3(RYR2):c.6174G>A (p.Leu2058=)
|
rs531705847
|
0.00001
|
NM_001035.3(RYR2):c.6267T>C (p.His2089=)
|
rs1222494774
|
0.00001
|
NM_001035.3(RYR2):c.6321G>A (p.Thr2107=)
|
rs764476121
|
0.00001
|
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=)
|
rs373777614
|
0.00001
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
NM_001035.3(RYR2):c.6393T>C (p.Ser2131=)
|
rs370087757
|
0.00001
|
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)
|
rs770847446
|
0.00001
|
NM_001035.3(RYR2):c.6468C>T (p.Tyr2156=)
|
rs1057522408
|
0.00001
|
NM_001035.3(RYR2):c.6504C>T (p.His2168=)
|
rs760237464
|
0.00001
|
NM_001035.3(RYR2):c.6534C>T (p.Val2178=)
|
rs904724019
|
0.00001
|
NM_001035.3(RYR2):c.6556-15A>G
|
rs1431223272
|
0.00001
|
NM_001035.3(RYR2):c.6606C>T (p.Tyr2202=)
|
rs1270857666
|
0.00001
|
NM_001035.3(RYR2):c.6618A>C (p.Ile2206=)
|
rs778352961
|
0.00001
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
NM_001035.3(RYR2):c.6786A>G (p.Leu2262=)
|
rs747343896
|
0.00001
|
NM_001035.3(RYR2):c.6793-17_6793-16dup
|
rs761591314
|
0.00001
|
NM_001035.3(RYR2):c.6825A>G (p.Gln2275=)
|
rs529339356
|
0.00001
|
NM_001035.3(RYR2):c.6903T>C (p.Phe2301=)
|
rs1681104404
|
0.00001
|
NM_001035.3(RYR2):c.6957C>T (p.Val2319=)
|
rs768367111
|
0.00001
|
NM_001035.3(RYR2):c.6981G>A (p.Arg2327=)
|
rs1198957149
|
0.00001
|
NM_001035.3(RYR2):c.7029T>A (p.Leu2343=)
|
rs1376856675
|
0.00001
|
NM_001035.3(RYR2):c.7185G>A (p.Leu2395=)
|
rs769210153
|
0.00001
|
NM_001035.3(RYR2):c.7230T>C (p.His2410=)
|
rs754982634
|
0.00001
|
NM_001035.3(RYR2):c.7236G>A (p.Gly2412=)
|
rs1553265780
|
0.00001
|
NM_001035.3(RYR2):c.7260G>A (p.Arg2420=)
|
rs771684537
|
0.00001
|
NM_001035.3(RYR2):c.7290A>G (p.Gly2430=)
|
rs765196007
|
0.00001
|
NM_001035.3(RYR2):c.7302C>T (p.Gly2434=)
|
rs766592875
|
0.00001
|
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=)
|
rs779456443
|
0.00001
|
NM_001035.3(RYR2):c.7374G>A (p.Ala2458=)
|
rs780891381
|
0.00001
|
NM_001035.3(RYR2):c.7377G>A (p.Gly2459=)
|
rs747614796
|
0.00001
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
NM_001035.3(RYR2):c.7512+14G>A
|
rs748775701
|
0.00001
|
NM_001035.3(RYR2):c.7513-4T>C
|
rs751840788
|
0.00001
|
NM_001035.3(RYR2):c.7578A>G (p.Pro2526=)
|
rs763555863
|
0.00001
|
NM_001035.3(RYR2):c.75C>T (p.Thr25=)
|
rs751027523
|
0.00001
|
NM_001035.3(RYR2):c.773+18T>C
|
rs758435186
|
0.00001
|
NM_001035.3(RYR2):c.7733+12A>C
|
rs1024864893
|
0.00001
|
NM_001035.3(RYR2):c.7782T>C (p.Phe2594=)
|
rs1320297410
|
0.00001
|
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)
|
rs59331340
|
0.00001
|
NM_001035.3(RYR2):c.7825-5C>T
|
rs1288446861
|
0.00001
|
NM_001035.3(RYR2):c.795C>T (p.Gly265=)
|
rs189449390
|
0.00001
|
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)
|
rs373326624
|
0.00001
|
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=)
|
rs745484020
|
0.00001
|
NM_001035.3(RYR2):c.8028G>A (p.Leu2676=)
|
rs775159757
|
0.00001
|
NM_001035.3(RYR2):c.8058C>T (p.Val2686=)
|
rs761566087
|
0.00001
|
NM_001035.3(RYR2):c.8129+20C>A
|
rs755080362
|
0.00001
|
NM_001035.3(RYR2):c.8130-5C>T
|
rs1683411935
|
0.00001
|
NM_001035.3(RYR2):c.8149T>C (p.Leu2717=)
|
rs1296293752
|
0.00001
|
NM_001035.3(RYR2):c.819C>T (p.Ser273=)
|
rs746461178
|
0.00001
|
NM_001035.3(RYR2):c.8209-9T>C
|
rs1184943114
|
0.00001
|
NM_001035.3(RYR2):c.8283G>A (p.Lys2761=)
|
rs780778878
|
0.00001
|
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=)
|
rs1057520868
|
0.00001
|
NM_001035.3(RYR2):c.8298+16T>C
|
rs775650063
|
0.00001
|
NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys)
|
rs754379518
|
0.00001
|
NM_001035.3(RYR2):c.8325C>T (p.Ile2775=)
|
rs1474322992
|
0.00001
|
NM_001035.3(RYR2):c.836C>A (p.Thr279Lys)
|
rs754312807
|
0.00001
|
NM_001035.3(RYR2):c.8450C>T (p.Ala2817Val)
|
rs765782802
|
0.00001
|
NM_001035.3(RYR2):c.849-10T>C
|
rs771173251
|
0.00001
|
NM_001035.3(RYR2):c.849-12del
|
rs765156667
|
0.00001
|
NM_001035.3(RYR2):c.8493T>C (p.Val2831=)
|
rs755660659
|
0.00001
|
NM_001035.3(RYR2):c.8496A>G (p.Thr2832=)
|
rs375915461
|
0.00001
|
NM_001035.3(RYR2):c.8559A>C (p.Ala2853=)
|
rs1381591533
|
0.00001
|
NM_001035.3(RYR2):c.8568G>A (p.Lys2856=)
|
rs887194766
|
0.00001
|
NM_001035.3(RYR2):c.8583G>A (p.Glu2861=)
|
rs1312234082
|
0.00001
|
NM_001035.3(RYR2):c.8591-6T>C
|
rs371383631
|
0.00001
|
NM_001035.3(RYR2):c.8631G>A (p.Leu2877=)
|
rs1060503848
|
0.00001
|
NM_001035.3(RYR2):c.8652G>A (p.Lys2884=)
|
rs758284122
|
0.00001
|
NM_001035.3(RYR2):c.865A>G (p.Ile289Val)
|
rs767673456
|
0.00001
|
NM_001035.3(RYR2):c.8714+13A>G
|
rs876657579
|
0.00001
|
NM_001035.3(RYR2):c.8714+20A>G
|
rs1176577543
|
0.00001
|
NM_001035.3(RYR2):c.8714+9A>T
|
rs541149328
|
0.00001
|
NM_001035.3(RYR2):c.8715-16_8715-14dup
|
rs1236198880
|
0.00001
|
NM_001035.3(RYR2):c.8715-7C>G
|
rs1015823961
|
0.00001
|
NM_001035.3(RYR2):c.8734C>T (p.Leu2912=)
|
rs772605413
|
0.00001
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
NM_001035.3(RYR2):c.876A>T (p.Gly292=)
|
rs1306804742
|
0.00001
|
NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu)
|
rs905226907
|
0.00001
|
NM_001035.3(RYR2):c.8805A>G (p.Glu2935=)
|
rs915071961
|
0.00001
|
NM_001035.3(RYR2):c.8816A>G (p.Tyr2939Cys)
|
rs375408791
|
0.00001
|
NM_001035.3(RYR2):c.8831-4A>G
|
rs1253963504
|
0.00001
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)
|
rs751546090
|
0.00001
|
NM_001035.3(RYR2):c.894C>T (p.Arg298=)
|
rs758606310
|
0.00001
|
NM_001035.3(RYR2):c.9021A>G (p.Leu3007=)
|
rs748115355
|
0.00001
|
NM_001035.3(RYR2):c.9129-18C>G
|
rs780255237
|
0.00001
|
NM_001035.3(RYR2):c.9129-5T>C
|
rs1687846483
|
0.00001
|
NM_001035.3(RYR2):c.9156T>C (p.Ser3052=)
|
rs760836447
|
0.00001
|
NM_001035.3(RYR2):c.9213C>T (p.Thr3071=)
|
rs759125855
|
0.00001
|
NM_001035.3(RYR2):c.9246C>T (p.His3082=)
|
rs1409285303
|
0.00001
|
NM_001035.3(RYR2):c.9282C>T (p.Ile3094=)
|
rs1391890714
|
0.00001
|
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)
|
rs778591641
|
0.00001
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
NM_001035.3(RYR2):c.9351C>T (p.Phe3117=)
|
rs773455753
|
0.00001
|
NM_001035.3(RYR2):c.939C>T (p.Asn313=)
|
rs925308875
|
0.00001
|
NM_001035.3(RYR2):c.9414T>C (p.Tyr3138=)
|
rs770274059
|
0.00001
|
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=)
|
rs367780360
|
0.00001
|
NM_001035.3(RYR2):c.9492T>G (p.Gly3164=)
|
rs1252667379
|
0.00001
|
NM_001035.3(RYR2):c.9549C>T (p.Ile3183=)
|
rs1360654111
|
0.00001
|
NM_001035.3(RYR2):c.9603G>A (p.Val3201=)
|
rs369285719
|
0.00001
|
NM_001035.3(RYR2):c.9621C>T (p.Asn3207=)
|
rs1370012835
|
0.00001
|
NM_001035.3(RYR2):c.9627G>A (p.Pro3209=)
|
rs377730320
|
0.00001
|
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)
|
rs556291797
|
0.00001
|
NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)
|
rs747271394
|
0.00001
|
NM_001035.3(RYR2):c.9768C>T (p.Asn3256=)
|
rs574525966
|
0.00001
|
NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)
|
rs765325906
|
0.00001
|
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)
|
rs750415021
|
0.00001
|
NM_001035.3(RYR2):c.9813G>A (p.Glu3271=)
|
rs757310700
|
0.00001
|
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)
|
rs1365049763
|
0.00001
|
NM_001035.3(RYR2):c.9841T>C (p.Leu3281=)
|
rs786205424
|
0.00001
|
NM_001035.3(RYR2):c.9901+11G>A
|
rs765377031
|
0.00001
|
NM_001035.3(RYR2):c.9902-14C>T
|
rs1190539351
|
0.00001
|
NM_001035.3(RYR2):c.9902-7T>C
|
rs1026024594
|
0.00001
|
NM_001035.3(RYR2):c.9903G>A (p.Val3301=)
|
rs756970130
|
0.00001
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
NM_001035.3(RYR2):c.9936T>A (p.Pro3312=)
|
rs967337973
|
0.00001
|
NM_001035.3(RYR2):c.9942C>G (p.Leu3314=)
|
rs746973997
|
0.00001
|
NM_001035.3(RYR2):c.9993T>C (p.Ala3331=)
|
rs369150213
|
0.00001
|
NM_001232.4(CASQ2):c.1015-10C>T
|
rs760797081
|
0.00001
|
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=)
|
rs758060229
|
0.00001
|
NM_001232.4(CASQ2):c.111T>C (p.Leu37=)
|
rs1317500264
|
0.00001
|
NM_001232.4(CASQ2):c.225C>T (p.Ile75=)
|
rs1373884863
|
0.00001
|
NM_001232.4(CASQ2):c.319+18G>A
|
rs757103068
|
0.00001
|
NM_001232.4(CASQ2):c.319+20T>C
|
rs751551798
|
0.00001
|
NM_001232.4(CASQ2):c.333A>G (p.Glu111=)
|
rs727502910
|
0.00001
|
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=)
|
rs886038422
|
0.00001
|
NM_001232.4(CASQ2):c.495C>T (p.Ile165=)
|
rs1447782106
|
0.00001
|
NM_001232.4(CASQ2):c.501C>G (p.Leu167=)
|
rs146051391
|
0.00001
|
NM_001232.4(CASQ2):c.533-12T>G
|
rs774246167
|
0.00001
|
NM_001232.4(CASQ2):c.533-15T>C
|
rs370268584
|
0.00001
|
NM_001232.4(CASQ2):c.533-20A>G
|
rs760173068
|
0.00001
|
NM_001232.4(CASQ2):c.606+7_606+9del
|
rs752653901
|
0.00001
|
NM_001232.4(CASQ2):c.645C>T (p.Asp215=)
|
rs1320292050
|
0.00001
|
NM_001232.4(CASQ2):c.702A>G (p.Glu234=)
|
rs756693726
|
0.00001
|
NM_001232.4(CASQ2):c.711G>T (p.Leu237=)
|
rs777363402
|
0.00001
|
NM_001232.4(CASQ2):c.737+19G>C
|
rs761915819
|
0.00001
|
NM_001232.4(CASQ2):c.738-19T>C
|
rs759948112
|
0.00001
|
NM_001232.4(CASQ2):c.759C>T (p.Arg253=)
|
rs1210277732
|
0.00001
|
NM_001232.4(CASQ2):c.784-11T>G
|
rs761150514
|
0.00001
|
NM_001232.4(CASQ2):c.784-19T>C
|
rs765442639
|
0.00001
|
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=)
|
rs764692110
|
0.00001
|
NM_001232.4(CASQ2):c.903G>A (p.Leu301=)
|
rs1350273999
|
0.00001
|
NM_001232.4(CASQ2):c.912G>A (p.Leu304=)
|
rs146074006
|
0.00001
|
NM_001232.4(CASQ2):c.957G>A (p.Glu319=)
|
rs758803168
|
0.00001
|
NM_001943.5(DSG2):c.1017A>G (p.Glu339=)
|
rs1325947416
|
0.00001
|
NM_001943.5(DSG2):c.1056T>A (p.Val352=)
|
rs969901158
|
0.00001
|
NM_001943.5(DSG2):c.108G>A (p.Lys36=)
|
rs761947230
|
0.00001
|
NM_001943.5(DSG2):c.1116C>G (p.Pro372=)
|
rs542079618
|
0.00001
|
NM_001943.5(DSG2):c.1173C>T (p.Ser391=)
|
rs763242004
|
0.00001
|
NM_001943.5(DSG2):c.1209A>G (p.Arg403=)
|
rs1467727719
|
0.00001
|
NM_001943.5(DSG2):c.1251T>C (p.Asp417=)
|
rs942476545
|
0.00001
|
NM_001943.5(DSG2):c.1280+8A>G
|
rs377662063
|
0.00001
|
NM_001943.5(DSG2):c.1281-16G>T
|
rs756914573
|
0.00001
|
NM_001943.5(DSG2):c.1281A>G (p.Arg427=)
|
rs370547219
|
0.00001
|
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=)
|
rs202095254
|
0.00001
|
NM_001943.5(DSG2):c.1434A>G (p.Arg478=)
|
rs755732646
|
0.00001
|
NM_001943.5(DSG2):c.1458T>C (p.Leu486=)
|
rs779518495
|
0.00001
|
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)
|
rs778100657
|
0.00001
|
NM_001943.5(DSG2):c.1533G>A (p.Glu511=)
|
rs754553761
|
0.00001
|
NM_001943.5(DSG2):c.1596C>T (p.Ser532=)
|
rs775653162
|
0.00001
|
NM_001943.5(DSG2):c.159C>T (p.Thr53=)
|
rs959566645
|
0.00001
|
NM_001943.5(DSG2):c.1652-8C>T
|
rs770497608
|
0.00001
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
NM_001943.5(DSG2):c.1791C>T (p.Ser597=)
|
rs768167385
|
0.00001
|
NM_001943.5(DSG2):c.1821T>C (p.Tyr607=)
|
rs1230368091
|
0.00001
|
NM_001943.5(DSG2):c.1836C>T (p.Pro612=)
|
rs374288967
|
0.00001
|
NM_001943.5(DSG2):c.1880-11T>C
|
rs779853197
|
0.00001
|
NM_001943.5(DSG2):c.1880-6G>A
|
rs1264314764
|
0.00001
|
NM_001943.5(DSG2):c.192G>A (p.Leu64=)
|
rs1377946410
|
0.00001
|
NM_001943.5(DSG2):c.1947C>T (p.Gly649=)
|
rs1331421711
|
0.00001
|
NM_001943.5(DSG2):c.1960C>T (p.Leu654=)
|
rs754792258
|
0.00001
|
NM_001943.5(DSG2):c.2010A>G (p.Pro670=)
|
rs777621113
|
0.00001
|
NM_001943.5(DSG2):c.2136C>T (p.Ser712=)
|
rs762885119
|
0.00001
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
NM_001943.5(DSG2):c.2274C>T (p.Ala758=)
|
rs778950229
|
0.00001
|
NM_001943.5(DSG2):c.2334+18G>T
|
rs367606402
|
0.00001
|
NM_001943.5(DSG2):c.2335-8C>G
|
rs561964101
|
0.00001
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
NM_001943.5(DSG2):c.2397T>C (p.Tyr799=)
|
rs200201181
|
0.00001
|
NM_001943.5(DSG2):c.2418G>A (p.Ser806=)
|
rs751831001
|
0.00001
|
NM_001943.5(DSG2):c.2424T>C (p.Asn808=)
|
rs1288711942
|
0.00001
|
NM_001943.5(DSG2):c.2436T>C (p.Gly812=)
|
rs551487195
|
0.00001
|
NM_001943.5(DSG2):c.2442C>T (p.Cys814=)
|
rs1394059699
|
0.00001
|
NM_001943.5(DSG2):c.2538T>C (p.Asp846=)
|
rs755061815
|
0.00001
|
NM_001943.5(DSG2):c.2583A>G (p.Thr861=)
|
rs774775322
|
0.00001
|
NM_001943.5(DSG2):c.2628T>C (p.Val876=)
|
rs775842543
|
0.00001
|
NM_001943.5(DSG2):c.2679T>C (p.Ser893=)
|
rs1432407239
|
0.00001
|
NM_001943.5(DSG2):c.2691C>G (p.Ala897=)
|
rs576107985
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_001943.5(DSG2):c.2742T>C (p.Ser914=)
|
rs529198523
|
0.00001
|
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val)
|
rs775670183
|
0.00001
|
NM_001943.5(DSG2):c.2751G>A (p.Ala917=)
|
rs763063602
|
0.00001
|
NM_001943.5(DSG2):c.2754A>G (p.Gln918=)
|
rs764157519
|
0.00001
|
NM_001943.5(DSG2):c.297T>C (p.Phe99=)
|
rs1045965107
|
0.00001
|
NM_001943.5(DSG2):c.2991T>A (p.Gly997=)
|
rs765129273
|
0.00001
|
NM_001943.5(DSG2):c.31C>T (p.Leu11=)
|
rs1220091298
|
0.00001
|
NM_001943.5(DSG2):c.3279T>C (p.Ser1093=)
|
rs758768074
|
0.00001
|
NM_001943.5(DSG2):c.3309T>C (p.Ser1103=)
|
rs1195224927
|
0.00001
|
NM_001943.5(DSG2):c.3354C>G (p.Ser1118=)
|
rs879254344
|
0.00001
|
NM_001943.5(DSG2):c.379-4T>C
|
rs753141182
|
0.00001
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
NM_001943.5(DSG2):c.45+19A>G
|
rs764211843
|
0.00001
|
NM_001943.5(DSG2):c.46-11T>C
|
rs757891590
|
0.00001
|
NM_001943.5(DSG2):c.465C>T (p.Asn155=)
|
rs751814575
|
0.00001
|
NM_001943.5(DSG2):c.511T>C (p.Leu171=)
|
rs1271440899
|
0.00001
|
NM_001943.5(DSG2):c.561T>C (p.Asp187=)
|
rs573318445
|
0.00001
|
NM_001943.5(DSG2):c.582G>A (p.Ser194=)
|
rs748768578
|
0.00001
|
NM_001943.5(DSG2):c.624T>G (p.Pro208=)
|
rs1275487240
|
0.00001
|
NM_001943.5(DSG2):c.633C>T (p.Phe211=)
|
rs2073132518
|
0.00001
|
NM_001943.5(DSG2):c.648T>C (p.Asp216=)
|
rs1235715453
|
0.00001
|
NM_001943.5(DSG2):c.690+12T>C
|
rs779806555
|
0.00001
|
NM_001943.5(DSG2):c.693A>G (p.Glu231=)
|
rs775582591
|
0.00001
|
NM_001943.5(DSG2):c.720A>G (p.Glu240=)
|
rs756024562
|
0.00001
|
NM_001943.5(DSG2):c.789G>A (p.Leu263=)
|
rs1389678806
|
0.00001
|
NM_001943.5(DSG2):c.795C>G (p.Val265=)
|
rs771324254
|
0.00001
|
NM_001943.5(DSG2):c.81+7A>G
|
rs763204534
|
0.00001
|
NM_001943.5(DSG2):c.813A>G (p.Val271=)
|
rs769992634
|
0.00001
|
NM_001943.5(DSG2):c.82-10A>G
|
rs1437170752
|
0.00001
|
NM_001943.5(DSG2):c.829-18T>C
|
rs1014175452
|
0.00001
|
NM_001943.5(DSG2):c.829-5T>C
|
rs373438324
|
0.00001
|
NM_001943.5(DSG2):c.939A>C (p.Ala313=)
|
rs1191660971
|
0.00001
|
NM_001943.5(DSG2):c.942A>G (p.Ser314=)
|
rs780279875
|
0.00001
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
NM_001943.5(DSG2):c.996A>G (p.Gly332=)
|
rs1568106929
|
0.00001
|
NM_002230.4(JUP):c.1017C>T (p.Ser339=)
|
rs782357007
|
0.00001
|
NM_002230.4(JUP):c.1055-12T>A
|
rs782667212
|
0.00001
|
NM_002230.4(JUP):c.1055-8T>C
|
rs1394581499
|
0.00001
|
NM_002230.4(JUP):c.1059G>A (p.Gly353=)
|
rs782648533
|
0.00001
|
NM_002230.4(JUP):c.1080C>T (p.His360=)
|
rs1406214813
|
0.00001
|
NM_002230.4(JUP):c.108C>T (p.Ser36=)
|
rs371142035
|
0.00001
|
NM_002230.4(JUP):c.1125C>T (p.Thr375=)
|
rs782108002
|
0.00001
|
NM_002230.4(JUP):c.1128G>A (p.Leu376=)
|
rs781926392
|
0.00001
|
NM_002230.4(JUP):c.1158+10G>T
|
rs199917743
|
0.00001
|
NM_002230.4(JUP):c.1165C>T (p.Leu389=)
|
rs1057523570
|
0.00001
|
NM_002230.4(JUP):c.1299C>T (p.Ser433=)
|
rs376345105
|
0.00001
|
NM_002230.4(JUP):c.1327C>T (p.Leu443=)
|
rs140537908
|
0.00001
|
NM_002230.4(JUP):c.1347C>T (p.Asp449=)
|
rs763261901
|
0.00001
|
NM_002230.4(JUP):c.1380C>T (p.Arg460=)
|
rs782212737
|
0.00001
|
NM_002230.4(JUP):c.1470C>T (p.Asn490=)
|
rs149248322
|
0.00001
|
NM_002230.4(JUP):c.1500A>T (p.Ala500=)
|
rs869025443
|
0.00001
|
NM_002230.4(JUP):c.1506C>T (p.Ile502=)
|
rs372963143
|
0.00001
|
NM_002230.4(JUP):c.1551G>A (p.Pro517=)
|
rs988891105
|
0.00001
|
NM_002230.4(JUP):c.1566G>A (p.Ala522=)
|
rs547437428
|
0.00001
|
NM_002230.4(JUP):c.1599G>A (p.Lys533=)
|
rs150699961
|
0.00001
|
NM_002230.4(JUP):c.1623C>T (p.His541=)
|
rs782477974
|
0.00001
|
NM_002230.4(JUP):c.1692C>T (p.Thr564=)
|
rs781958880
|
0.00001
|
NM_002230.4(JUP):c.1762C>T (p.Leu588=)
|
rs781900856
|
0.00001
|
NM_002230.4(JUP):c.1770G>A (p.Val590=)
|
rs782444566
|
0.00001
|
NM_002230.4(JUP):c.1774-16C>T
|
rs371727352
|
0.00001
|
NM_002230.4(JUP):c.1774-8C>T
|
rs781837434
|
0.00001
|
NM_002230.4(JUP):c.1785G>A (p.Ser595=)
|
rs782816522
|
0.00001
|
NM_002230.4(JUP):c.1815C>T (p.Ala605=)
|
rs543862977
|
0.00001
|
NM_002230.4(JUP):c.1851G>A (p.Ala617=)
|
rs1031612674
|
0.00001
|
NM_002230.4(JUP):c.1854C>T (p.Ala618=)
|
rs782176670
|
0.00001
|
NM_002230.4(JUP):c.1908C>T (p.Ser636=)
|
rs782122765
|
0.00001
|
NM_002230.4(JUP):c.1924+14G>T
|
rs201959663
|
0.00001
|
NM_002230.4(JUP):c.192G>A (p.Gly64=)
|
rs141237794
|
0.00001
|
NM_002230.4(JUP):c.2013C>T (p.Ser671=)
|
rs1326867934
|
0.00001
|
NM_002230.4(JUP):c.2086+18T>A
|
rs782095299
|
0.00001
|
NM_002230.4(JUP):c.2086+7G>C
|
rs727504940
|
0.00001
|
NM_002230.4(JUP):c.2087-5C>T
|
rs886052917
|
0.00001
|
NM_002230.4(JUP):c.209-12C>G
|
rs201194744
|
0.00001
|
NM_002230.4(JUP):c.209-8G>A
|
rs1165044090
|
0.00001
|
NM_002230.4(JUP):c.210T>C (p.Gly70=)
|
rs782504602
|
0.00001
|
NM_002230.4(JUP):c.2121C>T (p.Ser707=)
|
rs1477036549
|
0.00001
|
NM_002230.4(JUP):c.2193C>T (p.Asp731=)
|
rs199683273
|
0.00001
|
NM_002230.4(JUP):c.252G>A (p.Arg84=)
|
rs1555605953
|
0.00001
|
NM_002230.4(JUP):c.346C>T (p.Leu116=)
|
rs147121864
|
0.00001
|
NM_002230.4(JUP):c.411C>T (p.Ala137=)
|
rs782089101
|
0.00001
|
NM_002230.4(JUP):c.414G>A (p.Glu138=)
|
rs370003514
|
0.00001
|
NM_002230.4(JUP):c.469-12T>C
|
rs782699765
|
0.00001
|
NM_002230.4(JUP):c.469-16del
|
rs782421393
|
0.00001
|
NM_002230.4(JUP):c.525G>A (p.Ser175=)
|
rs782794110
|
0.00001
|
NM_002230.4(JUP):c.591C>T (p.Ser197=)
|
rs781813778
|
0.00001
|
NM_002230.4(JUP):c.624C>T (p.Ile208=)
|
rs566435665
|
0.00001
|
NM_002230.4(JUP):c.648G>C (p.Arg216=)
|
rs781795344
|
0.00001
|
NM_002230.4(JUP):c.705C>T (p.Leu235=)
|
rs887639693
|
0.00001
|
NM_002230.4(JUP):c.707+7A>G
|
rs373101758
|
0.00001
|
NM_002230.4(JUP):c.708-12C>G
|
rs781970079
|
0.00001
|
NM_002230.4(JUP):c.708-7C>T
|
rs397517301
|
0.00001
|
NM_002230.4(JUP):c.750G>A (p.Leu250=)
|
rs148381639
|
0.00001
|
NM_002230.4(JUP):c.807G>T (p.Gly269=)
|
rs781992518
|
0.00001
|
NM_002230.4(JUP):c.870C>T (p.Asp290=)
|
rs1915903703
|
0.00001
|
NM_002230.4(JUP):c.87C>T (p.Gly29=)
|
rs199530395
|
0.00001
|
NM_002230.4(JUP):c.910-5C>T
|
rs1750432359
|
0.00001
|
NM_002230.4(JUP):c.936C>G (p.Pro312=)
|
rs375094290
|
0.00001
|
NM_002230.4(JUP):c.942C>T (p.Ala314=)
|
rs782573436
|
0.00001
|
NM_002230.4(JUP):c.969T>C (p.Ser323=)
|
rs868945297
|
0.00001
|
NM_002230.4(JUP):c.990C>T (p.Thr330=)
|
rs1057521340
|
0.00001
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
NM_004415.4(DSP):c.1044+11T>C
|
rs772511991
|
0.00001
|
NM_004415.4(DSP):c.1045-18G>A
|
rs1332704469
|
0.00001
|
NM_004415.4(DSP):c.1051A>G (p.Met351Val)
|
rs1372435657
|
0.00001
|
NM_004415.4(DSP):c.1065G>A (p.Gln355=)
|
rs750289780
|
0.00001
|
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
NM_004415.4(DSP):c.1077T>C (p.Ser359=)
|
rs1179244955
|
0.00001
|
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
|
rs794728112
|
0.00001
|
NM_004415.4(DSP):c.111C>T (p.Thr37=)
|
rs727502995
|
0.00001
|
NM_004415.4(DSP):c.1141-14C>T
|
rs1258179786
|
0.00001
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
NM_004415.4(DSP):c.1197C>G (p.Ile399Met)
|
rs375828592
|
0.00001
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
NM_004415.4(DSP):c.1266+5C>T
|
rs1052624321
|
0.00001
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)
|
rs1430756602
|
0.00001
|
NM_004415.4(DSP):c.1281A>G (p.Lys427=)
|
rs1758928792
|
0.00001
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)
|
rs371517189
|
0.00001
|
NM_004415.4(DSP):c.1383T>C (p.Ile461=)
|
rs1758933736
|
0.00001
|
NM_004415.4(DSP):c.1452G>A (p.Leu484=)
|
rs1413578599
|
0.00001
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
NM_004415.4(DSP):c.146C>G (p.Thr49Ser)
|
rs151153655
|
0.00001
|
NM_004415.4(DSP):c.1482C>T (p.Tyr494=)
|
rs772925425
|
0.00001
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
NM_004415.4(DSP):c.1528C>T (p.Leu510=)
|
rs1019692996
|
0.00001
|
NM_004415.4(DSP):c.153G>A (p.Gln51=)
|
rs1450725914
|
0.00001
|
NM_004415.4(DSP):c.1545G>A (p.Pro515=)
|
rs747953037
|
0.00001
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)
|
rs1276338018
|
0.00001
|
NM_004415.4(DSP):c.1575-16C>G
|
rs756806835
|
0.00001
|
NM_004415.4(DSP):c.1575-7C>T
|
rs1203683996
|
0.00001
|
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu)
|
rs1267435790
|
0.00001
|
NM_004415.4(DSP):c.1590C>T (p.Tyr530=)
|
rs769196176
|
0.00001
|
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)
|
rs1214660308
|
0.00001
|
NM_004415.4(DSP):c.165C>T (p.Gly55=)
|
rs1041730733
|
0.00001
|
NM_004415.4(DSP):c.1693A>G (p.Ile565Val)
|
rs1287232143
|
0.00001
|
NM_004415.4(DSP):c.170+16G>A
|
rs1475829163
|
0.00001
|
NM_004415.4(DSP):c.1702-10C>A
|
rs774406075
|
0.00001
|
NM_004415.4(DSP):c.171-4T>C
|
rs1554105598
|
0.00001
|
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp)
|
rs796851273
|
0.00001
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
0.00001
|
NM_004415.4(DSP):c.1725T>C (p.Asp575=)
|
rs756392585
|
0.00001
|
NM_004415.4(DSP):c.1728C>T (p.Tyr576=)
|
rs760696358
|
0.00001
|
NM_004415.4(DSP):c.1731G>A (p.Met577Ile)
|
rs794728101
|
0.00001
|
NM_004415.4(DSP):c.1737G>A (p.Thr579=)
|
rs150734502
|
0.00001
|
NM_004415.4(DSP):c.1812C>T (p.Asp604=)
|
rs1428325875
|
0.00001
|
NM_004415.4(DSP):c.1821A>G (p.Lys607=)
|
rs768675424
|
0.00001
|
NM_004415.4(DSP):c.1824A>G (p.Ile608Met)
|
rs776461292
|
0.00001
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
0.00001
|
NM_004415.4(DSP):c.1860G>A (p.Gln620=)
|
rs762658467
|
0.00001
|
NM_004415.4(DSP):c.1864C>T (p.Leu622=)
|
rs200790278
|
0.00001
|
NM_004415.4(DSP):c.195C>T (p.His65=)
|
rs1324720466
|
0.00001
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
|
rs749183448
|
0.00001
|
NM_004415.4(DSP):c.197A>T (p.Gln66Leu)
|
rs794728152
|
0.00001
|
NM_004415.4(DSP):c.2023A>G (p.Ile675Val)
|
rs142619902
|
0.00001
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
NM_004415.4(DSP):c.2073C>G (p.Leu691=)
|
rs768290750
|
0.00001
|
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)
|
rs1339486272
|
0.00001
|
NM_004415.4(DSP):c.210C>T (p.Thr70=)
|
rs1303431114
|
0.00001
|
NM_004415.4(DSP):c.2130+8T>C
|
rs1450035171
|
0.00001
|
NM_004415.4(DSP):c.2131-10T>C
|
rs369821143
|
0.00001
|
NM_004415.4(DSP):c.2131-19T>C
|
rs1302281595
|
0.00001
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp)
|
rs746785505
|
0.00001
|
NM_004415.4(DSP):c.223C>T (p.Leu75=)
|
rs746019083
|
0.00001
|
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)
|
rs730880080
|
0.00001
|
NM_004415.4(DSP):c.2265T>C (p.Asn755=)
|
rs770798708
|
0.00001
|
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser)
|
rs372354883
|
0.00001
|
NM_004415.4(DSP):c.2280A>C (p.Thr760=)
|
rs1375561193
|
0.00001
|
NM_004415.4(DSP):c.2287T>C (p.Tyr763His)
|
rs1064794463
|
0.00001
|
NM_004415.4(DSP):c.2298-17T>G
|
rs375721577
|
0.00001
|
NM_004415.4(DSP):c.2316A>T (p.Ala772=)
|
rs754896726
|
0.00001
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
NM_004415.4(DSP):c.2437-9dup
|
rs1239613725
|
0.00001
|
NM_004415.4(DSP):c.2469G>A (p.Ser823=)
|
rs368945617
|
0.00001
|
NM_004415.4(DSP):c.2472G>A (p.Leu824=)
|
rs763798166
|
0.00001
|
NM_004415.4(DSP):c.2482A>G (p.Met828Val)
|
rs1338201926
|
0.00001
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
NM_004415.4(DSP):c.2502A>G (p.Lys834=)
|
rs764842338
|
0.00001
|
NM_004415.4(DSP):c.2515C>T (p.His839Tyr)
|
rs1561693806
|
0.00001
|
NM_004415.4(DSP):c.2597G>A (p.Arg866His)
|
rs764965132
|
0.00001
|
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)
|
rs534413559
|
0.00001
|
NM_004415.4(DSP):c.2630+10C>A
|
rs757717367
|
0.00001
|
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
NM_004415.4(DSP):c.2658G>A (p.Lys886=)
|
rs201404613
|
0.00001
|
NM_004415.4(DSP):c.265G>A (p.Val89Met)
|
rs766022243
|
0.00001
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)
|
rs775080138
|
0.00001
|
NM_004415.4(DSP):c.273+11C>G
|
rs1234194955
|
0.00001
|
NM_004415.4(DSP):c.273+9T>C
|
rs1439195112
|
0.00001
|
NM_004415.4(DSP):c.2793+19T>C
|
rs778502149
|
0.00001
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
NM_004415.4(DSP):c.2841A>G (p.Val947=)
|
rs1489060030
|
0.00001
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)
|
rs377116090
|
0.00001
|
NM_004415.4(DSP):c.2877+19G>A
|
rs1167474508
|
0.00001
|
NM_004415.4(DSP):c.2877+9G>T
|
rs1759263896
|
0.00001
|
NM_004415.4(DSP):c.2878-4G>A
|
rs758303966
|
0.00001
|
NM_004415.4(DSP):c.2886G>C (p.Glu962Asp)
|
rs1483445708
|
0.00001
|
NM_004415.4(DSP):c.2925G>A (p.Leu975=)
|
rs1163951082
|
0.00001
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
NM_004415.4(DSP):c.2991A>C (p.Ala997=)
|
rs780686578
|
0.00001
|
NM_004415.4(DSP):c.2993A>T (p.Asp998Val)
|
rs752344739
|
0.00001
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
NM_004415.4(DSP):c.3011T>C (p.Ile1004Thr)
|
rs910919703
|
0.00001
|
NM_004415.4(DSP):c.3084+9T>C
|
rs751450713
|
0.00001
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
NM_004415.4(DSP):c.3117G>A (p.Glu1039=)
|
rs763766403
|
0.00001
|
NM_004415.4(DSP):c.3141C>T (p.Ala1047=)
|
rs1421186832
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.321G>A (p.Leu107=)
|
rs765707433
|
0.00001
|
NM_004415.4(DSP):c.3221C>T (p.Ala1074Val)
|
rs745849763
|
0.00001
|
NM_004415.4(DSP):c.3222G>A (p.Ala1074=)
|
rs772040899
|
0.00001
|
NM_004415.4(DSP):c.3249G>A (p.Lys1083=)
|
rs764787427
|
0.00001
|
NM_004415.4(DSP):c.326A>C (p.Glu109Ala)
|
rs918984340
|
0.00001
|
NM_004415.4(DSP):c.327G>A (p.Glu109=)
|
rs750816128
|
0.00001
|
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser)
|
rs771948271
|
0.00001
|
NM_004415.4(DSP):c.3333C>A (p.Ile1111=)
|
rs1759349079
|
0.00001
|
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
|
rs761524542
|
0.00001
|
NM_004415.4(DSP):c.3396T>C (p.Phe1132=)
|
rs41302881
|
0.00001
|
NM_004415.4(DSP):c.340G>A (p.Ala114Thr)
|
rs751745906
|
0.00001
|
NM_004415.4(DSP):c.3453G>A (p.Glu1151=)
|
rs1554108084
|
0.00001
|
NM_004415.4(DSP):c.3471A>G (p.Lys1157=)
|
rs371743739
|
0.00001
|
NM_004415.4(DSP):c.3520T>C (p.Leu1174=)
|
rs1355577119
|
0.00001
|
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln)
|
rs770489625
|
0.00001
|
NM_004415.4(DSP):c.3540A>G (p.Glu1180=)
|
rs555514197
|
0.00001
|
NM_004415.4(DSP):c.3546C>T (p.Gly1182=)
|
rs1355395147
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val)
|
rs374266534
|
0.00001
|
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)
|
rs185367490
|
0.00001
|
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)
|
rs752645827
|
0.00001
|
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln)
|
rs867067755
|
0.00001
|
NM_004415.4(DSP):c.3819C>T (p.Asn1273=)
|
rs1390665527
|
0.00001
|
NM_004415.4(DSP):c.3843C>T (p.Gly1281=)
|
rs757848395
|
0.00001
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
NM_004415.4(DSP):c.3864G>A (p.Lys1288=)
|
rs768166626
|
0.00001
|
NM_004415.4(DSP):c.386G>A (p.Arg129Gln)
|
rs749155619
|
0.00001
|
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr)
|
rs759823665
|
0.00001
|
NM_004415.4(DSP):c.3903G>A (p.Gln1301=)
|
rs1284991362
|
0.00001
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)
|
rs367579811
|
0.00001
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
NM_004415.4(DSP):c.4043T>G (p.Leu1348Arg)
|
rs767003564
|
0.00001
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)
|
rs746333083
|
0.00001
|
NM_004415.4(DSP):c.408T>G (p.Asp136Glu)
|
rs774188472
|
0.00001
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
NM_004415.4(DSP):c.4125C>A (p.Thr1375=)
|
rs766338180
|
0.00001
|
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=)
|
rs75537269
|
0.00001
|
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp)
|
rs987487921
|
0.00001
|
NM_004415.4(DSP):c.423-17G>A
|
rs936607131
|
0.00001
|
NM_004415.4(DSP):c.4242C>T (p.Asn1414=)
|
rs375941706
|
0.00001
|
NM_004415.4(DSP):c.4248A>G (p.Leu1416=)
|
rs760259046
|
0.00001
|
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)
|
rs577560157
|
0.00001
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
NM_004415.4(DSP):c.4311C>G (p.Gly1437=)
|
rs781353867
|
0.00001
|
NM_004415.4(DSP):c.4347T>G (p.Val1449=)
|
rs778043017
|
0.00001
|
NM_004415.4(DSP):c.4359A>G (p.Gln1453=)
|
rs1174059606
|
0.00001
|
NM_004415.4(DSP):c.4376C>T (p.Thr1459Ile)
|
rs1160666212
|
0.00001
|
NM_004415.4(DSP):c.4395T>C (p.Tyr1465=)
|
rs1236464864
|
0.00001
|
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)
|
rs752121953
|
0.00001
|
NM_004415.4(DSP):c.4419C>T (p.Ala1473=)
|
rs727504542
|
0.00001
|
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly)
|
rs767339003
|
0.00001
|
NM_004415.4(DSP):c.4446G>A (p.Glu1482=)
|
rs145213715
|
0.00001
|
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)
|
rs745872344
|
0.00001
|
NM_004415.4(DSP):c.4470C>T (p.Ile1490=)
|
rs1759402221
|
0.00001
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
NM_004415.4(DSP):c.4563G>A (p.Ala1521=)
|
rs774258993
|
0.00001
|
NM_004415.4(DSP):c.4566G>A (p.Thr1522=)
|
rs1159243386
|
0.00001
|
NM_004415.4(DSP):c.4620C>T (p.Ile1540=)
|
rs1385558717
|
0.00001
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)
|
rs530647574
|
0.00001
|
NM_004415.4(DSP):c.4668C>T (p.Ile1556=)
|
rs1299604004
|
0.00001
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
NM_004415.4(DSP):c.4698G>A (p.Leu1566=)
|
rs751608838
|
0.00001
|
NM_004415.4(DSP):c.4716G>A (p.Lys1572=)
|
rs1759413690
|
0.00001
|
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
|
rs755868373
|
0.00001
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)
|
rs778603023
|
0.00001
|
NM_004415.4(DSP):c.4779G>A (p.Lys1593=)
|
rs759646052
|
0.00001
|
NM_004415.4(DSP):c.479G>A (p.Arg160Gln)
|
rs752941845
|
0.00001
|
NM_004415.4(DSP):c.4811C>T (p.Ser1604Leu)
|
rs757018930
|
0.00001
|
NM_004415.4(DSP):c.4812G>A (p.Ser1604=)
|
rs778729982
|
0.00001
|
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly)
|
rs1423503309
|
0.00001
|
NM_004415.4(DSP):c.4950C>G (p.Thr1650=)
|
rs948524246
|
0.00001
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.4983C>T (p.Val1661=)
|
rs755233649
|
0.00001
|
NM_004415.4(DSP):c.498C>T (p.Ser166=)
|
rs372869942
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
NM_004415.4(DSP):c.508G>A (p.Gly170Arg)
|
rs779608764
|
0.00001
|
NM_004415.4(DSP):c.5091T>C (p.Asn1697=)
|
rs780353871
|
0.00001
|
NM_004415.4(DSP):c.5118G>A (p.Leu1706=)
|
rs747132423
|
0.00001
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
NM_004415.4(DSP):c.5130A>T (p.Thr1710=)
|
rs1339008022
|
0.00001
|
NM_004415.4(DSP):c.5202G>C (p.Leu1734=)
|
rs755220841
|
0.00001
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
NM_004415.4(DSP):c.5244C>T (p.Thr1748=)
|
rs759222918
|
0.00001
|
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn)
|
rs763526083
|
0.00001
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
NM_004415.4(DSP):c.5380-12C>T
|
rs1393661264
|
0.00001
|
NM_004415.4(DSP):c.5380-15C>A
|
rs753028657
|
0.00001
|
NM_004415.4(DSP):c.5412G>T (p.Gln1804His)
|
rs779809935
|
0.00001
|
NM_004415.4(DSP):c.5485C>G (p.Leu1829Val)
|
rs769284245
|
0.00001
|
NM_004415.4(DSP):c.5550A>G (p.Lys1850=)
|
rs1759482564
|
0.00001
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)
|
rs780714982
|
0.00001
|
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp)
|
rs374844169
|
0.00001
|
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
|
rs776088292
|
0.00001
|
NM_004415.4(DSP):c.5631T>C (p.Ala1877=)
|
rs1231651139
|
0.00001
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln)
|
rs776728790
|
0.00001
|
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys)
|
rs751447598
|
0.00001
|
NM_004415.4(DSP):c.5722A>G (p.Arg1908Gly)
|
rs781030107
|
0.00001
|
NM_004415.4(DSP):c.5749C>T (p.Leu1917=)
|
rs936938713
|
0.00001
|
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)
|
rs777048976
|
0.00001
|
NM_004415.4(DSP):c.5805T>C (p.Tyr1935=)
|
rs748358814
|
0.00001
|
NM_004415.4(DSP):c.5810G>A (p.Arg1937Lys)
|
rs375502200
|
0.00001
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
NM_004415.4(DSP):c.5834G>A (p.Arg1945His)
|
rs759516161
|
0.00001
|
NM_004415.4(DSP):c.5838A>C (p.Pro1946=)
|
rs369822839
|
0.00001
|
NM_004415.4(DSP):c.5859C>G (p.Thr1953=)
|
rs752518537
|
0.00001
|
NM_004415.4(DSP):c.5880C>T (p.Thr1960=)
|
rs375883982
|
0.00001
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
NM_004415.4(DSP):c.588G>A (p.Arg196=)
|
rs754666224
|
0.00001
|
NM_004415.4(DSP):c.5958C>T (p.Ile1986=)
|
rs577625038
|
0.00001
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg)
|
rs767516148
|
0.00001
|
NM_004415.4(DSP):c.5964A>G (p.Lys1988=)
|
rs775247252
|
0.00001
|
NM_004415.4(DSP):c.597+8G>A
|
rs992434570
|
0.00001
|
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu)
|
rs763921000
|
0.00001
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)
|
rs753271305
|
0.00001
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
0.00001
|
NM_004415.4(DSP):c.6150G>A (p.Glu2050=)
|
rs1166392485
|
0.00001
|
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)
|
rs747956457
|
0.00001
|
NM_004415.4(DSP):c.6224G>A (p.Arg2075Gln)
|
rs759000314
|
0.00001
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)
|
rs779129603
|
0.00001
|
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)
|
rs370865499
|
0.00001
|
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)
|
rs777184414
|
0.00001
|
NM_004415.4(DSP):c.634G>A (p.Ala212Thr)
|
rs1028793473
|
0.00001
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
NM_004415.4(DSP):c.6385A>G (p.Ile2129Val)
|
rs755981187
|
0.00001
|
NM_004415.4(DSP):c.6441C>A (p.Val2147=)
|
rs762513279
|
0.00001
|
NM_004415.4(DSP):c.6455G>T (p.Gly2152Val)
|
rs1040120840
|
0.00001
|
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)
|
rs771692503
|
0.00001
|
NM_004415.4(DSP):c.6549C>T (p.Tyr2183=)
|
rs771461040
|
0.00001
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
NM_004415.4(DSP):c.6576C>A (p.Ile2192=)
|
rs1032400756
|
0.00001
|
NM_004415.4(DSP):c.6585T>C (p.His2195=)
|
rs1759541694
|
0.00001
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
NM_004415.4(DSP):c.6699C>T (p.Val2233=)
|
rs767835744
|
0.00001
|
NM_004415.4(DSP):c.6776G>A (p.Cys2259Tyr)
|
rs754635738
|
0.00001
|
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)
|
rs730880089
|
0.00001
|
NM_004415.4(DSP):c.6852A>G (p.Arg2284=)
|
rs141148057
|
0.00001
|
NM_004415.4(DSP):c.6879A>G (p.Glu2293=)
|
rs1327990933
|
0.00001
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
NM_004415.4(DSP):c.6921C>T (p.Asn2307=)
|
rs775897238
|
0.00001
|
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)
|
rs770210088
|
0.00001
|
NM_004415.4(DSP):c.6930A>G (p.Leu2310=)
|
rs1759552189
|
0.00001
|
NM_004415.4(DSP):c.6939G>A (p.Glu2313=)
|
rs1471693700
|
0.00001
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys)
|
rs769930190
|
0.00001
|
NM_004415.4(DSP):c.7068G>A (p.Lys2356=)
|
rs762892811
|
0.00001
|
NM_004415.4(DSP):c.7083G>A (p.Lys2361=)
|
rs1273820779
|
0.00001
|
NM_004415.4(DSP):c.7102T>C (p.Leu2368=)
|
rs1581823488
|
0.00001
|
NM_004415.4(DSP):c.720C>T (p.Ala240=)
|
rs1324798719
|
0.00001
|
NM_004415.4(DSP):c.7215C>T (p.Leu2405=)
|
rs191226040
|
0.00001
|
NM_004415.4(DSP):c.721G>A (p.Asp241Asn)
|
rs868293429
|
0.00001
|
NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr)
|
rs760501352
|
0.00001
|
NM_004415.4(DSP):c.726+8T>C
|
rs1554106248
|
0.00001
|
NM_004415.4(DSP):c.7287A>G (p.Leu2429=)
|
rs764641630
|
0.00001
|
NM_004415.4(DSP):c.7396G>A (p.Val2466Met)
|
rs745862520
|
0.00001
|
NM_004415.4(DSP):c.7413A>G (p.Pro2471=)
|
rs772161814
|
0.00001
|
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
NM_004415.4(DSP):c.7470T>C (p.Tyr2490=)
|
rs372896350
|
0.00001
|
NM_004415.4(DSP):c.7549G>T (p.Val2517Leu)
|
rs764359340
|
0.00001
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
NM_004415.4(DSP):c.7562A>G (p.Asp2521Gly)
|
rs758490440
|
0.00001
|
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
|
rs746932951
|
0.00001
|
NM_004415.4(DSP):c.7596T>C (p.Asp2532=)
|
rs769362448
|
0.00001
|
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn)
|
rs761136328
|
0.00001
|
NM_004415.4(DSP):c.7644A>T (p.Arg2548=)
|
rs886039159
|
0.00001
|
NM_004415.4(DSP):c.7701C>T (p.Val2567=)
|
rs772907439
|
0.00001
|
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
|
rs139486943
|
0.00001
|
NM_004415.4(DSP):c.772C>T (p.Leu258=)
|
rs147522043
|
0.00001
|
NM_004415.4(DSP):c.7731C>T (p.Val2577=)
|
rs1320894353
|
0.00001
|
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn)
|
rs750744914
|
0.00001
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
NM_004415.4(DSP):c.777+12T>G
|
rs764388232
|
0.00001
|
NM_004415.4(DSP):c.778-9C>T
|
rs773949949
|
0.00001
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)
|
rs571577908
|
0.00001
|
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)
|
rs752616130
|
0.00001
|
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
|
rs144821643
|
0.00001
|
NM_004415.4(DSP):c.7910T>C (p.Ile2637Thr)
|
rs1229128923
|
0.00001
|
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)
|
rs770390645
|
0.00001
|
NM_004415.4(DSP):c.7923C>T (p.Ile2641=)
|
rs773906008
|
0.00001
|
NM_004415.4(DSP):c.7926T>G (p.Val2642=)
|
rs917556170
|
0.00001
|
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)
|
rs749682166
|
0.00001
|
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)
|
rs1425701789
|
0.00001
|
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)
|
rs1064796438
|
0.00001
|
NM_004415.4(DSP):c.7962G>A (p.Gln2654=)
|
rs767539050
|
0.00001
|
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala)
|
rs1260154229
|
0.00001
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
NM_004415.4(DSP):c.8053G>T (p.Ala2685Ser)
|
rs760754021
|
0.00001
|
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
|
rs1415854040
|
0.00001
|
NM_004415.4(DSP):c.8094C>T (p.Phe2698=)
|
rs1201885200
|
0.00001
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
0.00001
|
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)
|
rs1194266904
|
0.00001
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
NM_004415.4(DSP):c.8136A>T (p.Ala2712=)
|
rs1759620884
|
0.00001
|
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile)
|
rs727504569
|
0.00001
|
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)
|
rs367972703
|
0.00001
|
NM_004415.4(DSP):c.8174G>A (p.Arg2725His)
|
rs776674939
|
0.00001
|
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser)
|
rs1157650702
|
0.00001
|
NM_004415.4(DSP):c.8235A>G (p.Ile2745Met)
|
rs768893360
|
0.00001
|
NM_004415.4(DSP):c.8277C>T (p.Arg2759=)
|
rs1248664648
|
0.00001
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
NM_004415.4(DSP):c.8310T>C (p.Tyr2770=)
|
rs750982524
|
0.00001
|
NM_004415.4(DSP):c.8364C>T (p.Ala2788=)
|
rs756256863
|
0.00001
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
|
rs769734918
|
0.00001
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
NM_004415.4(DSP):c.8508A>G (p.Gly2836=)
|
rs754074127
|
0.00001
|
NM_004415.4(DSP):c.8511T>C (p.Ser2837=)
|
rs757475874
|
0.00001
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
NM_004415.4(DSP):c.8539A>C (p.Arg2847=)
|
rs113629968
|
0.00001
|
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)
|
rs148550678
|
0.00001
|
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=)
|
rs201441128
|
0.00001
|
NM_004415.4(DSP):c.8610G>A (p.Gly2870=)
|
rs910215418
|
0.00001
|
NM_004415.4(DSP):c.939+19G>T
|
rs777724973
|
0.00001
|
NM_004415.4(DSP):c.940-5C>T
|
rs368391882
|
0.00001
|
NM_004415.4(DSP):c.940-9C>T
|
rs1016646349
|
0.00001
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)
|
rs757098196
|
0.00001
|
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)
|
rs117961973
|
0.00001
|
NM_004415.4(DSP):c.998G>A (p.Ser333Asn)
|
rs749695729
|
0.00001
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
NM_006073.4(TRDN):c.1051+7C>A
|
rs767743181
|
0.00001
|
NM_006073.4(TRDN):c.1052-9del
|
rs1404718387
|
0.00001
|
NM_006073.4(TRDN):c.1083G>C (p.Gly361=)
|
rs878854815
|
0.00001
|
NM_006073.4(TRDN):c.1101A>G (p.Ala367=)
|
rs1186052488
|
0.00001
|
NM_006073.4(TRDN):c.1106-16A>G
|
rs1195466991
|
0.00001
|
NM_006073.4(TRDN):c.1135+10A>T
|
rs765785141
|
0.00001
|
NM_006073.4(TRDN):c.1136-14C>T
|
rs1781747541
|
0.00001
|
NM_006073.4(TRDN):c.1136-19T>C
|
rs1454829896
|
0.00001
|
NM_006073.4(TRDN):c.1136-7T>C
|
rs1060504472
|
0.00001
|
NM_006073.4(TRDN):c.1219+8T>A
|
rs749762696
|
0.00001
|
NM_006073.4(TRDN):c.1220-19T>G
|
rs1278216509
|
0.00001
|
NM_006073.4(TRDN):c.1274-6T>A
|
rs1034356533
|
0.00001
|
NM_006073.4(TRDN):c.1305G>A (p.Ala435=)
|
rs1170118704
|
0.00001
|
NM_006073.4(TRDN):c.1383A>G (p.Glu461=)
|
rs1279027887
|
0.00001
|
NM_006073.4(TRDN):c.1421-15G>A
|
rs561559208
|
0.00001
|
NM_006073.4(TRDN):c.1471+11A>G
|
rs1562265333
|
0.00001
|
NM_006073.4(TRDN):c.1471+7T>G
|
rs766394390
|
0.00001
|
NM_006073.4(TRDN):c.1510+10T>C
|
rs762076675
|
0.00001
|
NM_006073.4(TRDN):c.1533T>C (p.Pro511=)
|
rs1216108172
|
0.00001
|
NM_006073.4(TRDN):c.1563G>A (p.Lys521=)
|
rs573190326
|
0.00001
|
NM_006073.4(TRDN):c.1567+18A>G
|
rs1323353333
|
0.00001
|
NM_006073.4(TRDN):c.1593A>G (p.Lys531=)
|
rs769926882
|
0.00001
|
NM_006073.4(TRDN):c.1597+10G>T
|
rs150165710
|
0.00001
|
NM_006073.4(TRDN):c.1597+20A>G
|
rs1334825625
|
0.00001
|
NM_006073.4(TRDN):c.1614G>A (p.Val538=)
|
rs566498843
|
0.00001
|
NM_006073.4(TRDN):c.1625-8A>G
|
rs776538507
|
0.00001
|
NM_006073.4(TRDN):c.1695A>G (p.Val565=)
|
rs1480745340
|
0.00001
|
NM_006073.4(TRDN):c.1738+8A>G
|
rs368262681
|
0.00001
|
NM_006073.4(TRDN):c.1952-5T>C
|
rs780537847
|
0.00001
|
NM_006073.4(TRDN):c.1952-6T>A
|
rs1452400104
|
0.00001
|
NM_006073.4(TRDN):c.1962T>G (p.Pro654=)
|
rs1021493361
|
0.00001
|
NM_006073.4(TRDN):c.2007A>G (p.Lys669=)
|
rs758215926
|
0.00001
|
NM_006073.4(TRDN):c.2015-9A>G
|
rs774914841
|
0.00001
|
NM_006073.4(TRDN):c.2050+9A>G
|
rs778722280
|
0.00001
|
NM_006073.4(TRDN):c.2091C>T (p.Tyr697=)
|
rs749118163
|
0.00001
|
NM_006073.4(TRDN):c.22+18C>T
|
rs549609889
|
0.00001
|
NM_006073.4(TRDN):c.232+8C>A
|
rs371069080
|
0.00001
|
NM_006073.4(TRDN):c.480T>G (p.Thr160=)
|
rs1020844292
|
0.00001
|
NM_006073.4(TRDN):c.485-13T>C
|
rs886061034
|
0.00001
|
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)
|
rs545032318
|
0.00001
|
NM_006073.4(TRDN):c.576A>G (p.Lys192=)
|
rs756125825
|
0.00001
|
NM_006073.4(TRDN):c.606G>A (p.Ala202=)
|
rs1410476969
|
0.00001
|
NM_006073.4(TRDN):c.610+19A>G
|
rs1482036297
|
0.00001
|
NM_006073.4(TRDN):c.630T>A (p.Thr210=)
|
rs983727872
|
0.00001
|
NM_006073.4(TRDN):c.804A>G (p.Ala268=)
|
rs748948862
|
0.00001
|
NM_006073.4(TRDN):c.854-7T>C
|
rs762404582
|
0.00001
|
NM_006073.4(TRDN):c.885G>A (p.Pro295=)
|
rs769189541
|
0.00001
|
NM_006073.4(TRDN):c.894A>G (p.Gln298=)
|
rs1489564658
|
0.00001
|
NM_006073.4(TRDN):c.931+14T>C
|
rs1776694685
|
0.00001
|
NM_006073.4(TRDN):c.991+10T>G
|
rs1451400888
|
0.00001
|
NM_006073.4(TRDN):c.991+11T>G
|
rs1245038855
|
0.00001
|
NM_013266.4(CTNNA3):c.1263C>T (p.His421=)
|
rs140907744
|
0.00001
|
NM_013266.4(CTNNA3):c.1272G>A (p.Arg424=)
|
rs774491415
|
0.00001
|
NM_013266.4(CTNNA3):c.1278A>G (p.Val426=)
|
rs143981286
|
0.00001
|
NM_013266.4(CTNNA3):c.1375-10A>G
|
rs371356128
|
0.00001
|
NM_013266.4(CTNNA3):c.1375-15T>A
|
rs368074391
|
0.00001
|
NM_013266.4(CTNNA3):c.1461G>A (p.Glu487=)
|
rs779637505
|
0.00001
|
NM_013266.4(CTNNA3):c.1509T>C (p.Ile503=)
|
rs375080368
|
0.00001
|
NM_013266.4(CTNNA3):c.1531+9T>G
|
rs746503264
|
0.00001
|
NM_013266.4(CTNNA3):c.1532-12A>G
|
rs1421217417
|
0.00001
|
NM_013266.4(CTNNA3):c.1566C>T (p.Ile522=)
|
rs2092818980
|
0.00001
|
NM_013266.4(CTNNA3):c.1794G>A (p.Leu598=)
|
rs1302194870
|
0.00001
|
NM_013266.4(CTNNA3):c.1885-4A>G
|
rs1564646044
|
0.00001
|
NM_013266.4(CTNNA3):c.1962A>G (p.Glu654=)
|
rs750151799
|
0.00001
|
NM_013266.4(CTNNA3):c.1978-11A>G
|
rs369905481
|
0.00001
|
NM_013266.4(CTNNA3):c.2025G>A (p.Glu675=)
|
rs940633257
|
0.00001
|
NM_013266.4(CTNNA3):c.2058G>A (p.Lys686=)
|
rs745562600
|
0.00001
|
NM_013266.4(CTNNA3):c.2061G>A (p.Leu687=)
|
rs1380267136
|
0.00001
|
NM_013266.4(CTNNA3):c.2205G>A (p.Ala735=)
|
rs745959148
|
0.00001
|
NM_013266.4(CTNNA3):c.2217A>T (p.Ser739=)
|
rs778040551
|
0.00001
|
NM_013266.4(CTNNA3):c.2349T>C (p.Ser783=)
|
rs769069364
|
0.00001
|
NM_013266.4(CTNNA3):c.2523C>T (p.Pro841=)
|
rs769407192
|
0.00001
|
NM_013266.4(CTNNA3):c.2562A>G (p.Ala854=)
|
rs752661010
|
0.00001
|
NM_013266.4(CTNNA3):c.417G>A (p.Ala139=)
|
rs1204895034
|
0.00001
|
NM_013266.4(CTNNA3):c.480T>C (p.Ser160=)
|
rs766602512
|
0.00001
|
NM_013266.4(CTNNA3):c.843+8G>A
|
rs755796270
|
0.00001
|
NM_013266.4(CTNNA3):c.849A>G (p.Leu283=)
|
rs762976031
|
0.00001
|
NM_013266.4(CTNNA3):c.898C>T (p.Leu300=)
|
rs1862478317
|
0.00001
|
NM_024334.3(TMEM43):c.1001-11C>T
|
rs755132712
|
0.00001
|
NM_024334.3(TMEM43):c.1074G>A (p.Ser358=)
|
rs377104916
|
0.00001
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
NM_024334.3(TMEM43):c.1158C>T (p.Pro386=)
|
rs1377312502
|
0.00001
|
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp)
|
rs201453637
|
0.00001
|
NM_024334.3(TMEM43):c.168C>T (p.Arg56=)
|
rs768752495
|
0.00001
|
NM_024334.3(TMEM43):c.186C>G (p.Thr62=)
|
rs773764939
|
0.00001
|
NM_024334.3(TMEM43):c.207G>A (p.Ser69=)
|
rs886058030
|
0.00001
|
NM_024334.3(TMEM43):c.213G>A (p.Val71=)
|
rs756764750
|
0.00001
|
NM_024334.3(TMEM43):c.246G>A (p.Pro82=)
|
rs376098518
|
0.00001
|
NM_024334.3(TMEM43):c.324C>T (p.Val108=)
|
rs371279985
|
0.00001
|
NM_024334.3(TMEM43):c.354C>T (p.His118=)
|
rs754103544
|
0.00001
|
NM_024334.3(TMEM43):c.381T>C (p.Thr127=)
|
rs778409275
|
0.00001
|
NM_024334.3(TMEM43):c.392+8G>C
|
rs187725428
|
0.00001
|
NM_024334.3(TMEM43):c.392+9T>C
|
rs780392028
|
0.00001
|
NM_024334.3(TMEM43):c.42T>C (p.His14=)
|
rs773252383
|
0.00001
|
NM_024334.3(TMEM43):c.443-10C>T
|
rs1695115549
|
0.00001
|
NM_024334.3(TMEM43):c.443-12C>G
|
rs368555747
|
0.00001
|
NM_024334.3(TMEM43):c.483C>T (p.Phe161=)
|
rs772842801
|
0.00001
|
NM_024334.3(TMEM43):c.512+8C>A
|
rs757632483
|
0.00001
|
NM_024334.3(TMEM43):c.583+8T>C
|
rs377518739
|
0.00001
|
NM_024334.3(TMEM43):c.584-16A>G
|
rs562436722
|
0.00001
|
NM_024334.3(TMEM43):c.763C>T (p.Leu255=)
|
rs761968722
|
0.00001
|
NM_024334.3(TMEM43):c.768C>A (p.Gly256=)
|
rs955293392
|
0.00001
|
NM_024334.3(TMEM43):c.781-13G>T
|
rs202207425
|
0.00001
|
NM_024334.3(TMEM43):c.78G>A (p.Leu26=)
|
rs1695064079
|
0.00001
|
NM_024334.3(TMEM43):c.801G>A (p.Gln267=)
|
rs1258459178
|
0.00001
|
NM_024334.3(TMEM43):c.831C>T (p.Thr277=)
|
rs758007704
|
0.00001
|
NM_024334.3(TMEM43):c.834G>A (p.Lys278=)
|
rs151009158
|
0.00001
|
NM_024334.3(TMEM43):c.840G>C (p.Gly280=)
|
rs755018311
|
0.00001
|
NM_024334.3(TMEM43):c.852G>A (p.Leu284=)
|
rs139211731
|
0.00001
|
NM_024334.3(TMEM43):c.855C>G (p.Leu285=)
|
rs1337055313
|
0.00001
|
NM_024334.3(TMEM43):c.873C>T (p.Phe291=)
|
rs1452047536
|
0.00001
|
NM_024334.3(TMEM43):c.882+8C>T
|
rs920512368
|
0.00001
|
NM_024334.3(TMEM43):c.90C>T (p.Ser30=)
|
rs373839281
|
0.00001
|
NM_024334.3(TMEM43):c.993C>T (p.Tyr331=)
|
rs755042745
|
0.00001
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
NM_024422.6(DSC2):c.105G>A (p.Val35=)
|
rs776441487
|
0.00001
|
NM_024422.6(DSC2):c.1077+11G>T
|
rs727504868
|
0.00001
|
NM_024422.6(DSC2):c.1077+15T>C
|
rs374321855
|
0.00001
|
NM_024422.6(DSC2):c.1110T>C (p.Asp370=)
|
rs1567977994
|
0.00001
|
NM_024422.6(DSC2):c.1131T>G (p.Thr377=)
|
rs772815380
|
0.00001
|
NM_024422.6(DSC2):c.120C>A (p.Pro40=)
|
rs773259822
|
0.00001
|
NM_024422.6(DSC2):c.1230C>T (p.Ala410=)
|
rs778090203
|
0.00001
|
NM_024422.6(DSC2):c.1347A>G (p.Pro449=)
|
rs1157738158
|
0.00001
|
NM_024422.6(DSC2):c.1410G>A (p.Glu470=)
|
rs551265924
|
0.00001
|
NM_024422.6(DSC2):c.144T>G (p.Leu48=)
|
rs1598592489
|
0.00001
|
NM_024422.6(DSC2):c.1521-5A>G
|
rs397517392
|
0.00001
|
NM_024422.6(DSC2):c.1548G>T (p.Gly516=)
|
rs1465276759
|
0.00001
|
NM_024422.6(DSC2):c.1560T>C (p.Ile520=)
|
rs1193943164
|
0.00001
|
NM_024422.6(DSC2):c.1596C>T (p.Ser532=)
|
rs1387501743
|
0.00001
|
NM_024422.6(DSC2):c.159C>T (p.Asn53=)
|
rs952701114
|
0.00001
|
NM_024422.6(DSC2):c.1803G>A (p.Glu601=)
|
rs1288832288
|
0.00001
|
NM_024422.6(DSC2):c.1889-10A>G
|
rs1371722130
|
0.00001
|
NM_024422.6(DSC2):c.1926A>G (p.Pro642=)
|
rs776278152
|
0.00001
|
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile)
|
rs781419827
|
0.00001
|
NM_024422.6(DSC2):c.1990T>C (p.Leu664=)
|
rs747173696
|
0.00001
|
NM_024422.6(DSC2):c.2004G>A (p.Leu668=)
|
rs1986839093
|
0.00001
|
NM_024422.6(DSC2):c.2073A>G (p.Gln691=)
|
rs776903280
|
0.00001
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
NM_024422.6(DSC2):c.2244C>T (p.Asp748=)
|
rs886039103
|
0.00001
|
NM_024422.6(DSC2):c.2256T>C (p.Ser752=)
|
rs1369056367
|
0.00001
|
NM_024422.6(DSC2):c.2313C>T (p.Thr771=)
|
rs778571921
|
0.00001
|
NM_024422.6(DSC2):c.2334C>T (p.Asn778=)
|
rs1282599604
|
0.00001
|
NM_024422.6(DSC2):c.2370A>G (p.Gly790=)
|
rs761302953
|
0.00001
|
NM_024422.6(DSC2):c.2379C>A (p.Thr793=)
|
rs773813155
|
0.00001
|
NM_024422.6(DSC2):c.237C>T (p.Val79=)
|
rs1002646457
|
0.00001
|
NM_024422.6(DSC2):c.2382G>A (p.Ser794=)
|
rs761322462
|
0.00001
|
NM_024422.6(DSC2):c.2391C>T (p.Cys797=)
|
rs544366164
|
0.00001
|
NM_024422.6(DSC2):c.2416C>T (p.Leu806=)
|
rs758409608
|
0.00001
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
NM_024422.6(DSC2):c.2472G>A (p.Ser824=)
|
rs374348925
|
0.00001
|
NM_024422.6(DSC2):c.2509-8C>T
|
rs772194578
|
0.00001
|
NM_024422.6(DSC2):c.2592G>A (p.Ser864=)
|
rs1241309506
|
0.00001
|
NM_024422.6(DSC2):c.2610T>C (p.Gly870=)
|
rs761875347
|
0.00001
|
NM_024422.6(DSC2):c.267G>A (p.Ser89=)
|
rs201363937
|
0.00001
|
NM_024422.6(DSC2):c.2691A>G (p.Ala897=)
|
rs555492553
|
0.00001
|
NM_024422.6(DSC2):c.285C>T (p.Thr95=)
|
rs773333125
|
0.00001
|
NM_024422.6(DSC2):c.354+9G>A
|
rs1397580089
|
0.00001
|
NM_024422.6(DSC2):c.396C>T (p.Arg132=)
|
rs773053517
|
0.00001
|
NM_024422.6(DSC2):c.429G>A (p.Ser143=)
|
rs542638302
|
0.00001
|
NM_024422.6(DSC2):c.435A>G (p.Leu145=)
|
rs1167062231
|
0.00001
|
NM_024422.6(DSC2):c.474+9T>C
|
rs1400346935
|
0.00001
|
NM_024422.6(DSC2):c.475-4C>T
|
rs1431130615
|
0.00001
|
NM_024422.6(DSC2):c.540A>G (p.Gln180=)
|
rs1291095173
|
0.00001
|
NM_024422.6(DSC2):c.549G>T (p.Arg183=)
|
rs774025474
|
0.00001
|
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
|
rs749063028
|
0.00001
|
NM_024422.6(DSC2):c.585G>A (p.Leu195=)
|
rs912124448
|
0.00001
|
NM_024422.6(DSC2):c.60G>A (p.Leu20=)
|
rs1201166808
|
0.00001
|
NM_024422.6(DSC2):c.627T>C (p.Phe209=)
|
rs754168300
|
0.00001
|
NM_024422.6(DSC2):c.687A>G (p.Leu229=)
|
rs371192108
|
0.00001
|
NM_024422.6(DSC2):c.70-9A>G
|
rs752022380
|
0.00001
|
NM_024422.6(DSC2):c.717C>T (p.Asn239=)
|
rs768598370
|
0.00001
|
NM_024422.6(DSC2):c.775+8C>A
|
rs757814061
|
0.00001
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
NM_024422.6(DSC2):c.825G>A (p.Thr275=)
|
rs767301887
|
0.00001
|
NM_024422.6(DSC2):c.942+22C>G
|
rs748709100
|
0.00001
|
NM_024422.6(DSC2):c.975A>G (p.Val325=)
|
rs1411764092
|
0.00001
|
NM_001005242.3(PKP2):c.1002T>C (p.Thr334=)
|
rs2137945629
|
|
NM_001005242.3(PKP2):c.1017C>T (p.Phe339=)
|
|
|
NM_001005242.3(PKP2):c.1020T>C (p.Thr340=)
|
|
|
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
|
|
|
NM_001005242.3(PKP2):c.102C>T (p.Ser34=)
|
rs2138010805
|
|
NM_001005242.3(PKP2):c.1034+13C>G
|
|
|
NM_001005242.3(PKP2):c.1034+19C>T
|
|
|
NM_001005242.3(PKP2):c.1034+9C>G
|
|
|
NM_001005242.3(PKP2):c.1035-10G>T
|
rs1448052777
|
|
NM_001005242.3(PKP2):c.1035-13C>T
|
rs1189037360
|
|
NM_001005242.3(PKP2):c.1035-18C>T
|
rs1373621892
|
|
NM_001005242.3(PKP2):c.1035-20dup
|
|
|
NM_001005242.3(PKP2):c.1035-8_1035-5del
|
|
|
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=)
|
rs905404609
|
|
NM_001005242.3(PKP2):c.1059G>A (p.Leu353=)
|
|
|
NM_001005242.3(PKP2):c.105G>A (p.Glu35=)
|
|
|
NM_001005242.3(PKP2):c.1062G>A (p.Glu354=)
|
|
|
NM_001005242.3(PKP2):c.1101A>G (p.Pro367=)
|
rs776927054
|
|
NM_001005242.3(PKP2):c.1104C>G (p.Ser368=)
|
rs892666132
|
|
NM_001005242.3(PKP2):c.1107G>A (p.Arg369=)
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1122T>C (p.Ala374=)
|
rs2137919557
|
|
NM_001005242.3(PKP2):c.1152A>G (p.Lys384=)
|
|
|
NM_001005242.3(PKP2):c.1164G>A (p.Arg388=)
|
|
|
NM_001005242.3(PKP2):c.1170+10A>C
|
|
|
NM_001005242.3(PKP2):c.1170+10A>G
|
|
|
NM_001005242.3(PKP2):c.1170+13T>G
|
|
|
NM_001005242.3(PKP2):c.1170+14T>A
|
|
|
NM_001005242.3(PKP2):c.1170+15C>A
|
rs1395923604
|
|
NM_001005242.3(PKP2):c.1170+17G>A
|
|
|
NM_001005242.3(PKP2):c.1170+18T>C
|
rs2137919020
|
|
NM_001005242.3(PKP2):c.1170+18T>G
|
|
|
NM_001005242.3(PKP2):c.1170+19C>G
|
|
|
NM_001005242.3(PKP2):c.1170+20C>T
|
|
|
NM_001005242.3(PKP2):c.1171-16T>C
|
|
|
NM_001005242.3(PKP2):c.1171-19G>A
|
rs376451546
|
|
NM_001005242.3(PKP2):c.1171-19G>T
|
rs376451546
|
|
NM_001005242.3(PKP2):c.1171-20T>C
|
|
|
NM_001005242.3(PKP2):c.1171-20T>G
|
rs1592750729
|
|
NM_001005242.3(PKP2):c.1171-5_1171-2dup
|
rs2137863489
|
|
NM_001005242.3(PKP2):c.1212A>C (p.Leu404=)
|
|
|
NM_001005242.3(PKP2):c.1212A>G (p.Leu404=)
|
rs1592750669
|
|
NM_001005242.3(PKP2):c.1224T>C (p.Asn408=)
|
|
|
NM_001005242.3(PKP2):c.1233T>G (p.Val411=)
|
rs2137863106
|
|
NM_001005242.3(PKP2):c.123G>A (p.Ala41=)
|
|
|
NM_001005242.3(PKP2):c.1251G>A (p.Gly417=)
|
|
|
NM_001005242.3(PKP2):c.1251G>T (p.Gly417=)
|
rs567854722
|
|
NM_001005242.3(PKP2):c.126G>A (p.Gly42=)
|
rs2138010654
|
|
NM_001005242.3(PKP2):c.1278C>T (p.Asp426=)
|
|
|
NM_001005242.3(PKP2):c.12C>A (p.Pro4=)
|
|
|
NM_001005242.3(PKP2):c.1314G>T (p.Gly438=)
|
rs2137862483
|
|
NM_001005242.3(PKP2):c.1338G>A (p.Leu446=)
|
|
|
NM_001005242.3(PKP2):c.1347C>T (p.Thr449=)
|
|
|
NM_001005242.3(PKP2):c.1353C>T (p.Asp451=)
|
rs879074880
|
|
NM_001005242.3(PKP2):c.1359G>A (p.Glu453=)
|
rs1158553343
|
|
NM_001005242.3(PKP2):c.1378+17A>G
|
|
|
NM_001005242.3(PKP2):c.1379-12G>T
|
|
|
NM_001005242.3(PKP2):c.1379-15T>C
|
|
|
NM_001005242.3(PKP2):c.1379-1966del
|
rs1555144717
|
|
NM_001005242.3(PKP2):c.1379-1967C>T
|
|
|
NM_001005242.3(PKP2):c.1379-1984C>T
|
rs759017992
|
|
NM_001005242.3(PKP2):c.1379-1990G>A
|
rs747472526
|
|
NM_001005242.3(PKP2):c.1379-1998C>A
|
rs151212477
|
|
NM_001005242.3(PKP2):c.1379-2002A>G
|
rs1283785731
|
|
NM_001005242.3(PKP2):c.1379-2011G>C
|
rs140301552
|
|
NM_001005242.3(PKP2):c.1379-2062G>A
|
|
|
NM_001005242.3(PKP2):c.1379-2068C>A
|
|
|
NM_001005242.3(PKP2):c.1379-2080T>C
|
rs2137838317
|
|
NM_001005242.3(PKP2):c.1379-2083G>A
|
rs1592747658
|
|
NM_001005242.3(PKP2):c.1379-2101A>G
|
rs1424035271
|
|
NM_001005242.3(PKP2):c.1379-2107C>T
|
|
|
NM_001005242.3(PKP2):c.1379-2114G>A
|
rs2137838518
|
|
NM_001005242.3(PKP2):c.1379-2117T>A
|
rs1956617482
|
|
NM_001005242.3(PKP2):c.1379-2119C>A
|
rs371719724
|
|
NM_001005242.3(PKP2):c.1383G>A (p.Leu461=)
|
rs2137831117
|
|
NM_001005242.3(PKP2):c.1395G>A (p.Leu465=)
|
|
|
NM_001005242.3(PKP2):c.1398A>C (p.Ser466=)
|
rs1163940991
|
|
NM_001005242.3(PKP2):c.1443T>C (p.Leu481=)
|
|
|
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=)
|
rs879043258
|
|
NM_001005242.3(PKP2):c.1491A>T (p.Gly497=)
|
|
|
NM_001005242.3(PKP2):c.1497C>T (p.Tyr499=)
|
rs765139046
|
|
NM_001005242.3(PKP2):c.1506A>T (p.Ala502=)
|
rs2137830158
|
|
NM_001005242.3(PKP2):c.1554A>C (p.Leu518=)
|
|
|
NM_001005242.3(PKP2):c.1556+10C>T
|
rs1057521860
|
|
NM_001005242.3(PKP2):c.1556+11C>G
|
rs754845481
|
|
NM_001005242.3(PKP2):c.1556+12T>C
|
|
|
NM_001005242.3(PKP2):c.1556+15A>T
|
|
|
NM_001005242.3(PKP2):c.1557-10T>G
|
|
|
NM_001005242.3(PKP2):c.1557-14_1557-8del
|
rs1220372775
|
|
NM_001005242.3(PKP2):c.1557-21GTTTTTT[3]
|
|
|
NM_001005242.3(PKP2):c.1557-5G>A
|
rs1956411165
|
|
NM_001005242.3(PKP2):c.1569T>C (p.Ser523=)
|
rs1592738689
|
|
NM_001005242.3(PKP2):c.1593G>A (p.Ala531=)
|
rs760093803
|
|
NM_001005242.3(PKP2):c.1593G>C (p.Ala531=)
|
rs760093803
|
|
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=)
|
rs760093803
|
|
NM_001005242.3(PKP2):c.15C>G (p.Gly5=)
|
rs1390632513
|
|
NM_001005242.3(PKP2):c.15C>T (p.Gly5=)
|
rs1390632513
|
|
NM_001005242.3(PKP2):c.1600A>C (p.Arg534=)
|
rs541792948
|
|
NM_001005242.3(PKP2):c.160C>T (p.Leu54=)
|
|
|
NM_001005242.3(PKP2):c.1614C>T (p.Leu538=)
|
rs1956409610
|
|
NM_001005242.3(PKP2):c.1638C>T (p.Val546=)
|
rs2137783220
|
|
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)
|
rs1555143127
|
|
NM_001005242.3(PKP2):c.1674+12G>C
|
|
|
NM_001005242.3(PKP2):c.1674+18T>C
|
|
|
NM_001005242.3(PKP2):c.1674+20T>C
|
|
|
NM_001005242.3(PKP2):c.1675-10G>A
|
|
|
NM_001005242.3(PKP2):c.1675-11del
|
|
|
NM_001005242.3(PKP2):c.1675-19T>G
|
|
|
NM_001005242.3(PKP2):c.1707C>T (p.Asn569=)
|
|
|
NM_001005242.3(PKP2):c.1719G>A (p.Gln573=)
|
|
|
NM_001005242.3(PKP2):c.1734C>G (p.Leu578=)
|
rs1460314882
|
|
NM_001005242.3(PKP2):c.1737A>G (p.Pro579=)
|
rs766498974
|
|
NM_001005242.3(PKP2):c.1737A>T (p.Pro579=)
|
|
|
NM_001005242.3(PKP2):c.174G>A (p.Glu58=)
|
rs146708884
|
|
NM_001005242.3(PKP2):c.1794C>T (p.Asn598=)
|
rs727503370
|
|
NM_001005242.3(PKP2):c.1809T>C (p.Cys603=)
|
rs767935208
|
|
NM_001005242.3(PKP2):c.180G>T (p.Val60=)
|
|
|
NM_001005242.3(PKP2):c.1812T>C (p.Phe604=)
|
|
|
NM_001005242.3(PKP2):c.1815C>A (p.Gly605=)
|
|
|
NM_001005242.3(PKP2):c.1840-10G>A
|
rs768000598
|
|
NM_001005242.3(PKP2):c.1840-19T>C
|
|
|
NM_001005242.3(PKP2):c.1840-4T>C
|
|
|
NM_001005242.3(PKP2):c.1840-6G>T
|
|
|
NM_001005242.3(PKP2):c.1845C>T (p.Tyr615=)
|
|
|
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=)
|
rs759353036
|
|
NM_001005242.3(PKP2):c.1851C>T (p.Asp617=)
|
rs752732048
|
|
NM_001005242.3(PKP2):c.1854G>A (p.Val618=)
|
|
|
NM_001005242.3(PKP2):c.1866G>A (p.Glu622=)
|
rs1956377972
|
|
NM_001005242.3(PKP2):c.1872G>A (p.Lys624=)
|
rs1395644069
|
|
NM_001005242.3(PKP2):c.1881C>T (p.Pro627=)
|
|
|
NM_001005242.3(PKP2):c.1893G>A (p.Glu631=)
|
|
|
NM_001005242.3(PKP2):c.1908C>T (p.Ser636=)
|
rs138495471
|
|
NM_001005242.3(PKP2):c.192C>T (p.Leu64=)
|
rs768376044
|
|
NM_001005242.3(PKP2):c.1938C>T (p.Ile646=)
|
|
|
NM_001005242.3(PKP2):c.1941C>T (p.Ala647=)
|
|
|
NM_001005242.3(PKP2):c.1986G>A (p.Leu662=)
|
rs2137772910
|
|
NM_001005242.3(PKP2):c.1998G>C (p.Thr666=)
|
rs371089832
|
|
NM_001005242.3(PKP2):c.1998G>T (p.Thr666=)
|
rs371089832
|
|
NM_001005242.3(PKP2):c.2007T>C (p.Ser669=)
|
rs2137772710
|
|
NM_001005242.3(PKP2):c.2013+19T>C
|
|
|
NM_001005242.3(PKP2):c.2013+8T>C
|
|
|
NM_001005242.3(PKP2):c.2014-16A>G
|
|
|
NM_001005242.3(PKP2):c.2014-18A>G
|
|
|
NM_001005242.3(PKP2):c.2028G>A (p.Val676=)
|
rs1397771521
|
|
NM_001005242.3(PKP2):c.2037A>T (p.Thr679=)
|
rs377504106
|
|
NM_001005242.3(PKP2):c.2043C>T (p.Val681=)
|
rs1422427818
|
|
NM_001005242.3(PKP2):c.2055T>C (p.Ser685=)
|
|
|
NM_001005242.3(PKP2):c.2080C>T (p.Leu694=)
|
|
|
NM_001005242.3(PKP2):c.2125C>T (p.Leu709=)
|
rs2137725297
|
|
NM_001005242.3(PKP2):c.2130G>A (p.Arg710=)
|
rs2137725263
|
|
NM_001005242.3(PKP2):c.213C>G (p.Ser71=)
|
rs1173618581
|
|
NM_001005242.3(PKP2):c.2151T>G (p.Ser717=)
|
|
|
NM_001005242.3(PKP2):c.2152C>T (p.Leu718=)
|
rs1592729512
|
|
NM_001005242.3(PKP2):c.2154G>C (p.Leu718=)
|
|
|
NM_001005242.3(PKP2):c.2160T>C (p.Asn720=)
|
|
|
NM_001005242.3(PKP2):c.2168-10C>T
|
rs1410924735
|
|
NM_001005242.3(PKP2):c.2168-16T>C
|
|
|
NM_001005242.3(PKP2):c.2168-16T>G
|
rs746498808
|
|
NM_001005242.3(PKP2):c.2168-19T>G
|
rs527736735
|
|
NM_001005242.3(PKP2):c.2168-21_2168-19del
|
rs747997926
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
NM_001005242.3(PKP2):c.2168-4G>T
|
rs376231586
|
|
NM_001005242.3(PKP2):c.2168-9A>T
|
|
|
NM_001005242.3(PKP2):c.2181C>T (p.Leu727=)
|
rs1032835001
|
|
NM_001005242.3(PKP2):c.2229T>G (p.Leu743=)
|
|
|
NM_001005242.3(PKP2):c.223+12C>T
|
|
|
NM_001005242.3(PKP2):c.223+13C>A
|
|
|
NM_001005242.3(PKP2):c.223+13C>T
|
|
|
NM_001005242.3(PKP2):c.223+15_223+24del
|
|
|
NM_001005242.3(PKP2):c.223+18C>T
|
|
|
NM_001005242.3(PKP2):c.2235T>A (p.Ile745=)
|
|
|
NM_001005242.3(PKP2):c.224-10T>C
|
rs1956962712
|
|
NM_001005242.3(PKP2):c.224-14T>C
|
|
|
NM_001005242.3(PKP2):c.224-18A>G
|
rs370733920
|
|
NM_001005242.3(PKP2):c.224-18A>T
|
rs370733920
|
|
NM_001005242.3(PKP2):c.2247C>A (p.Ala749=)
|
|
|
NM_001005242.3(PKP2):c.2253C>A (p.Ala751=)
|
|
|
NM_001005242.3(PKP2):c.2262A>G (p.Thr754=)
|
rs2137708394
|
|
NM_001005242.3(PKP2):c.2265G>A (p.Leu755=)
|
rs267603441
|
|
NM_001005242.3(PKP2):c.2271C>T (p.Asn757=)
|
|
|
NM_001005242.3(PKP2):c.2283C>T (p.Asn761=)
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2307T>C (p.Leu769=)
|
|
|
NM_001005242.3(PKP2):c.2319G>A (p.Gly773=)
|
|
|
NM_001005242.3(PKP2):c.2340C>T (p.Ala780=)
|
|
|
NM_001005242.3(PKP2):c.2346T>C (p.Ser782=)
|
rs2137707818
|
|
NM_001005242.3(PKP2):c.234C>T (p.His78=)
|
rs1591829350
|
|
NM_001005242.3(PKP2):c.2357+13G>A
|
|
|
NM_001005242.3(PKP2):c.2357+13del
|
rs2137707621
|
|
NM_001005242.3(PKP2):c.2358-10T>C
|
|
|
NM_001005242.3(PKP2):c.2358-14C>A
|
|
|
NM_001005242.3(PKP2):c.2358-15T>A
|
|
|
NM_001005242.3(PKP2):c.2358-20G>T
|
|
|
NM_001005242.3(PKP2):c.2358-9T>C
|
rs1592724586
|
|
NM_001005242.3(PKP2):c.2367C>T (p.Ser789=)
|
rs1330430218
|
|
NM_001005242.3(PKP2):c.2388T>G (p.Ala796=)
|
rs1956081645
|
|
NM_001005242.3(PKP2):c.2398C>T (p.Leu800=)
|
rs2137698131
|
|
NM_001005242.3(PKP2):c.2415A>G (p.Ala805=)
|
|
|
NM_001005242.3(PKP2):c.2418C>T (p.His806=)
|
rs756749174
|
|
NM_001005242.3(PKP2):c.2427G>A (p.Leu809=)
|
|
|
NM_001005242.3(PKP2):c.2445+11G>A
|
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
NM_001005242.3(PKP2):c.2445+16A>G
|
rs1956080169
|
|
NM_001005242.3(PKP2):c.2445+17G>A
|
|
|
NM_001005242.3(PKP2):c.2445+18G>A
|
|
|
NM_001005242.3(PKP2):c.2445+8C>G
|
rs2137697843
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
NM_001005242.3(PKP2):c.2446-11T>C
|
|
|
NM_001005242.3(PKP2):c.2446-17G>A
|
|
|
NM_001005242.3(PKP2):c.2446-4A>G
|
|
|
NM_001005242.3(PKP2):c.2446-5del
|
|
|
NM_001005242.3(PKP2):c.2446-9A>T
|
rs1057524088
|
|
NM_001005242.3(PKP2):c.2448T>C (p.Ala816=)
|
|
|
NM_001005242.3(PKP2):c.2460G>A (p.Lys820=)
|
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
NM_001005242.3(PKP2):c.2511C>T (p.Asp837=)
|
|
|
NM_001005242.3(PKP2):c.252T>G (p.Pro84=)
|
rs1591829338
|
|
NM_001005242.3(PKP2):c.258T>C (p.Tyr86=)
|
|
|
NM_001005242.3(PKP2):c.261C>T (p.Val87=)
|
|
|
NM_001005242.3(PKP2):c.273C>T (p.His91=)
|
|
|
NM_001005242.3(PKP2):c.274T>C (p.Leu92=)
|
|
|
NM_001005242.3(PKP2):c.306C>T (p.Ser102=)
|
|
|
NM_001005242.3(PKP2):c.309T>C (p.Pro103=)
|
rs2137952679
|
|
NM_001005242.3(PKP2):c.30C>T (p.Tyr10=)
|
|
|
NM_001005242.3(PKP2):c.327C>T (p.Asp109=)
|
rs1285494956
|
|
NM_001005242.3(PKP2):c.336+10C>G
|
rs2137952378
|
|
NM_001005242.3(PKP2):c.336+14G>T
|
|
|
NM_001005242.3(PKP2):c.336+16A>C
|
|
|
NM_001005242.3(PKP2):c.336+17dup
|
rs2137952357
|
|
NM_001005242.3(PKP2):c.336+20A>G
|
|
|
NM_001005242.3(PKP2):c.336+7del
|
|
|
NM_001005242.3(PKP2):c.336+8del
|
rs1591829238
|
|
NM_001005242.3(PKP2):c.337-13C>A
|
|
|
NM_001005242.3(PKP2):c.337-19T>G
|
rs780342528
|
|
NM_001005242.3(PKP2):c.337-4G>A
|
rs751175344
|
|
NM_001005242.3(PKP2):c.337-7T>C
|
|
|
NM_001005242.3(PKP2):c.337-8A>G
|
|
|
NM_001005242.3(PKP2):c.337-8_337-7del
|
|
|
NM_001005242.3(PKP2):c.348T>A (p.Thr116=)
|
|
|
NM_001005242.3(PKP2):c.357T>C (p.Tyr119=)
|
rs758097199
|
|
NM_001005242.3(PKP2):c.36C>T (p.Tyr12=)
|
|
|
NM_001005242.3(PKP2):c.390C>T (p.Tyr130=)
|
rs763303290
|
|
NM_001005242.3(PKP2):c.402G>A (p.Lys134=)
|
|
|
NM_001005242.3(PKP2):c.406G>A (p.Val136Met)
|
rs567795321
|
|
NM_001005242.3(PKP2):c.411A>G (p.Glu137=)
|
rs1591829029
|
|
NM_001005242.3(PKP2):c.417G>A (p.Arg139=)
|
|
|
NM_001005242.3(PKP2):c.420C>T (p.Ser140=)
|
rs2389115
|
|
NM_001005242.3(PKP2):c.433C>T (p.Leu145=)
|
|
|
NM_001005242.3(PKP2):c.438G>A (p.Arg146=)
|
|
|
NM_001005242.3(PKP2):c.447G>A (p.Glu149=)
|
|
|
NM_001005242.3(PKP2):c.453T>C (p.Ser151=)
|
|
|
NM_001005242.3(PKP2):c.45C>A (p.Thr15=)
|
rs759214983
|
|
NM_001005242.3(PKP2):c.462C>T (p.Ser154=)
|
|
|
NM_001005242.3(PKP2):c.510G>A (p.Gln170=)
|
rs1591828909
|
|
NM_001005242.3(PKP2):c.516C>T (p.Ser172=)
|
|
|
NM_001005242.3(PKP2):c.525G>T (p.Gly175=)
|
|
|
NM_001005242.3(PKP2):c.528C>T (p.His176=)
|
|
|
NM_001005242.3(PKP2):c.531C>G (p.Thr177=)
|
|
|
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
|
|
|
NM_001005242.3(PKP2):c.561C>G (p.Ala187=)
|
|
|
NM_001005242.3(PKP2):c.567A>G (p.Leu189=)
|
rs1555148149
|
|
NM_001005242.3(PKP2):c.597C>T (p.Ile199=)
|
rs866985131
|
|
NM_001005242.3(PKP2):c.621C>A (p.Thr207=)
|
rs2137949092
|
|
NM_001005242.3(PKP2):c.63C>A (p.Ile21=)
|
|
|
NM_001005242.3(PKP2):c.657A>G (p.Arg219=)
|
rs750880081
|
|
NM_001005242.3(PKP2):c.663C>T (p.Tyr221=)
|
rs767987619
|
|
NM_001005242.3(PKP2):c.672C>T (p.Gly224=)
|
rs2137948758
|
|
NM_001005242.3(PKP2):c.69A>G (p.Gly23=)
|
rs1591836131
|
|
NM_001005242.3(PKP2):c.717C>T (p.Ala239=)
|
rs143777637
|
|
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)
|
rs756376477
|
|
NM_001005242.3(PKP2):c.735G>A (p.Arg245=)
|
|
|
NM_001005242.3(PKP2):c.750C>T (p.Arg250=)
|
rs1327751203
|
|
NM_001005242.3(PKP2):c.762C>T (p.Asn254=)
|
rs1034147527
|
|
NM_001005242.3(PKP2):c.771G>A (p.Glu257=)
|
rs1060504159
|
|
NM_001005242.3(PKP2):c.784C>T (p.Leu262=)
|
|
|
NM_001005242.3(PKP2):c.786G>T (p.Leu262=)
|
|
|
NM_001005242.3(PKP2):c.792A>C (p.Ala264=)
|
rs2137947897
|
|
NM_001005242.3(PKP2):c.822G>C (p.Leu274=)
|
|
|
NM_001005242.3(PKP2):c.828C>T (p.Pro276=)
|
rs2137947497
|
|
NM_001005242.3(PKP2):c.849C>T (p.Asn283=)
|
|
|
NM_001005242.3(PKP2):c.879C>T (p.Ser293=)
|
|
|
NM_001005242.3(PKP2):c.912T>C (p.Ala304=)
|
rs1591828546
|
|
NM_001005242.3(PKP2):c.924C>A (p.Val308=)
|
|
|
NM_001005242.3(PKP2):c.924C>T (p.Val308=)
|
rs1956947855
|
|
NM_001005242.3(PKP2):c.942G>A (p.Gly314=)
|
rs1956947291
|
|
NM_001005242.3(PKP2):c.946A>C (p.Arg316=)
|
|
|
NM_001005242.3(PKP2):c.954C>T (p.His318=)
|
|
|
NM_001005242.3(PKP2):c.963C>G (p.Val321=)
|
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
NM_001005242.3(PKP2):c.972G>C (p.Ala324=)
|
rs142636176
|
|
NM_001005242.3(PKP2):c.972G>T (p.Ala324=)
|
rs142636176
|
|
NM_001005242.3(PKP2):c.975C>A (p.Ala325=)
|
rs369921166
|
|
NM_001005242.3(PKP2):c.990G>A (p.Gly330=)
|
rs749862514
|
|
NM_001005242.3(PKP2):c.999C>G (p.Leu333=)
|
|
|
NM_001005242.3(PKP2):c.999C>T (p.Leu333=)
|
rs2137945654
|
|
NM_001005242.3(PKP2):c.9C>T (p.Ala3=)
|
|
|
NM_001035.3(RYR2):c.10020G>T (p.Leu3340=)
|
rs2149066994
|
|
NM_001035.3(RYR2):c.10026T>C (p.Ala3342=)
|
rs2149067032
|
|
NM_001035.3(RYR2):c.10032C>G (p.Ala3344=)
|
rs2149067070
|
|
NM_001035.3(RYR2):c.10038G>A (p.Gly3346=)
|
|
|
NM_001035.3(RYR2):c.10038G>T (p.Gly3346=)
|
|
|
NM_001035.3(RYR2):c.10041C>T (p.Asp3347=)
|
|
|
NM_001035.3(RYR2):c.1005+19T>G
|
|
|
NM_001035.3(RYR2):c.1005+20G>C
|
|
|
NM_001035.3(RYR2):c.1005+7C>G
|
rs774100182
|
|
NM_001035.3(RYR2):c.1005+9G>A
|
rs1052046365
|
|
NM_001035.3(RYR2):c.10059C>T (p.Leu3353=)
|
rs370015676
|
|
NM_001035.3(RYR2):c.1006-15C>T
|
|
|
NM_001035.3(RYR2):c.1006-15del
|
|
|
NM_001035.3(RYR2):c.1006-20T>A
|
rs2150146334
|
|
NM_001035.3(RYR2):c.1006-8C>A
|
|
|
NM_001035.3(RYR2):c.1006-8C>T
|
rs1425668743
|
|
NM_001035.3(RYR2):c.10062C>T (p.Leu3354=)
|
rs931521804
|
|
NM_001035.3(RYR2):c.10078A>G (p.Thr3360Ala)
|
|
|
NM_001035.3(RYR2):c.1008A>G (p.Glu336=)
|
|
|
NM_001035.3(RYR2):c.10098C>G (p.Leu3366=)
|
|
|
NM_001035.3(RYR2):c.10098C>T (p.Leu3366=)
|
|
|
NM_001035.3(RYR2):c.10137T>C (p.Tyr3379=)
|
|
|
NM_001035.3(RYR2):c.10142+14T>C
|
|
|
NM_001035.3(RYR2):c.10142+15A>C
|
|
|
NM_001035.3(RYR2):c.10142+15A>G
|
|
|
NM_001035.3(RYR2):c.10142+8C>G
|
|
|
NM_001035.3(RYR2):c.10142+8C>T
|
|
|
NM_001035.3(RYR2):c.10143-11A>T
|
rs1057523491
|
|
NM_001035.3(RYR2):c.10143-15_10143-12del
|
rs2149069509
|
|
NM_001035.3(RYR2):c.10146A>C (p.Ala3382=)
|
rs773965844
|
|
NM_001035.3(RYR2):c.10146A>T (p.Ala3382=)
|
|
|
NM_001035.3(RYR2):c.10190G>A (p.Arg3397His)
|
rs753630324
|
|
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)
|
rs753630324
|
|
NM_001035.3(RYR2):c.10224G>A (p.Lys3408=)
|
|
|
NM_001035.3(RYR2):c.10230+16T>C
|
|
|
NM_001035.3(RYR2):c.10230+9_10230+15del
|
rs1573617993
|
|
NM_001035.3(RYR2):c.10231-11C>T
|
rs1688861182
|
|
NM_001035.3(RYR2):c.10231-17C>A
|
|
|
NM_001035.3(RYR2):c.1023G>A (p.Gly341=)
|
|
|
NM_001035.3(RYR2):c.10248G>A (p.Glu3416=)
|
|
|
NM_001035.3(RYR2):c.10287T>C (p.Ser3429=)
|
rs1301505729
|
|
NM_001035.3(RYR2):c.10302T>C (p.Asp3434=)
|
rs775183266
|
|
NM_001035.3(RYR2):c.10323+13dup
|
rs886046276
|
|
NM_001035.3(RYR2):c.10323+15T>A
|
|
|
NM_001035.3(RYR2):c.10323+20C>T
|
|
|
NM_001035.3(RYR2):c.10323+9A>G
|
|
|
NM_001035.3(RYR2):c.10324-10T>G
|
rs2149100282
|
|
NM_001035.3(RYR2):c.10324-11_10324-10del
|
rs2149100270
|
|
NM_001035.3(RYR2):c.10324-12T>C
|
|
|
NM_001035.3(RYR2):c.10324-13C>T
|
|
|
NM_001035.3(RYR2):c.10324-17T>G
|
|
|
NM_001035.3(RYR2):c.10324-19A>C
|
rs2149100202
|
|
NM_001035.3(RYR2):c.10324-7T>C
|
rs2149100302
|
|
NM_001035.3(RYR2):c.10324-9G>A
|
rs1238809463
|
|
NM_001035.3(RYR2):c.10344A>G (p.Glu3448=)
|
|
|
NM_001035.3(RYR2):c.10374G>T (p.Arg3458=)
|
|
|
NM_001035.3(RYR2):c.10407T>G (p.Ala3469=)
|
|
|
NM_001035.3(RYR2):c.10408C>T (p.Leu3470=)
|
|
|
NM_001035.3(RYR2):c.10413G>A (p.Lys3471=)
|
|
|
NM_001035.3(RYR2):c.10417T>C (p.Leu3473=)
|
rs767626639
|
|
NM_001035.3(RYR2):c.10425C>G (p.Pro3475=)
|
rs756160043
|
|
NM_001035.3(RYR2):c.10425C>T (p.Pro3475=)
|
|
|
NM_001035.3(RYR2):c.10434G>A (p.Leu3478=)
|
rs2149100807
|
|
NM_001035.3(RYR2):c.10446C>T (p.Ala3482=)
|
rs746150182
|
|
NM_001035.3(RYR2):c.10494+10C>G
|
|
|
NM_001035.3(RYR2):c.10494+7_10494+11dup
|
|
|
NM_001035.3(RYR2):c.10494+8_10494+9del
|
rs760691531
|
|
NM_001035.3(RYR2):c.10495-10T>G
|
|
|
NM_001035.3(RYR2):c.10495-12A>G
|
|
|
NM_001035.3(RYR2):c.10495-16AT[2]
|
rs764166022
|
|
NM_001035.3(RYR2):c.10495-9T>C
|
|
|
NM_001035.3(RYR2):c.10503C>A (p.Thr3501=)
|
rs2797441
|
|
NM_001035.3(RYR2):c.10515A>T (p.Val3505=)
|
|
|
NM_001035.3(RYR2):c.10545A>G (p.Leu3515=)
|
rs1246758548
|
|
NM_001035.3(RYR2):c.10554+15A>G
|
|
|
NM_001035.3(RYR2):c.10554+7C>A
|
rs375143208
|
|
NM_001035.3(RYR2):c.10554+7C>T
|
|
|
NM_001035.3(RYR2):c.10555-16T>C
|
|
|
NM_001035.3(RYR2):c.10555-5T>G
|
rs2149125350
|
|
NM_001035.3(RYR2):c.10555-9T>C
|
|
|
NM_001035.3(RYR2):c.10557G>A (p.Leu3519=)
|
rs558910032
|
|
NM_001035.3(RYR2):c.10602A>G (p.Leu3534=)
|
rs397516498
|
|
NM_001035.3(RYR2):c.10611G>A (p.Arg3537=)
|
|
|
NM_001035.3(RYR2):c.10617T>C (p.Asp3539=)
|
|
|
NM_001035.3(RYR2):c.10620T>C (p.Asp3540=)
|
rs2149125659
|
|
NM_001035.3(RYR2):c.10626A>G (p.Ser3542=)
|
|
|
NM_001035.3(RYR2):c.10632A>G (p.Pro3544=)
|
rs1689897244
|
|
NM_001035.3(RYR2):c.10635G>A (p.Glu3545=)
|
rs1558290780
|
|
NM_001035.3(RYR2):c.10656G>A (p.Leu3552=)
|
|
|
NM_001035.3(RYR2):c.10659T>C (p.Asp3553=)
|
|
|
NM_001035.3(RYR2):c.10665A>T (p.Ala3555=)
|
rs764666057
|
|
NM_001035.3(RYR2):c.10671G>A (p.Val3557=)
|
|
|
NM_001035.3(RYR2):c.10677T>C (p.Phe3559=)
|
rs2149125932
|
|
NM_001035.3(RYR2):c.10680T>C (p.His3560=)
|
rs727503404
|
|
NM_001035.3(RYR2):c.10686A>G (p.Glu3562=)
|
rs1553300632
|
|
NM_001035.3(RYR2):c.10689+12T>C
|
|
|
NM_001035.3(RYR2):c.10689+13G>A
|
|
|
NM_001035.3(RYR2):c.10689+17A>G
|
|
|
NM_001035.3(RYR2):c.10690-19_10690-17del
|
|
|
NM_001035.3(RYR2):c.10690-4T>A
|
rs1219349222
|
|
NM_001035.3(RYR2):c.10690-6T>C
|
rs1314601816
|
|
NM_001035.3(RYR2):c.10692G>A (p.Lys3564=)
|
|
|
NM_001035.3(RYR2):c.10704G>A (p.Val3568=)
|
rs1000043466
|
|
NM_001035.3(RYR2):c.10707T>C (p.Gly3569=)
|
rs2149138721
|
|
NM_001035.3(RYR2):c.1071T>A (p.Gly357=)
|
rs2150146835
|
|
NM_001035.3(RYR2):c.10725+17dup
|
|
|
NM_001035.3(RYR2):c.10725+18T>C
|
|
|
NM_001035.3(RYR2):c.10725+20G>A
|
|
|
NM_001035.3(RYR2):c.10725+7A>G
|
rs2149138963
|
|
NM_001035.3(RYR2):c.10726-19T>G
|
|
|
NM_001035.3(RYR2):c.10726-7A>G
|
|
|
NM_001035.3(RYR2):c.10746T>C (p.Ser3582=)
|
rs767479069
|
|
NM_001035.3(RYR2):c.10749A>G (p.Lys3583=)
|
|
|
NM_001035.3(RYR2):c.10758A>G (p.Val3586=)
|
rs2149142188
|
|
NM_001035.3(RYR2):c.10770A>G (p.Leu3590=)
|
rs903446046
|
|
NM_001035.3(RYR2):c.10773G>A (p.Leu3591=)
|
|
|
NM_001035.3(RYR2):c.10779G>A (p.Lys3593=)
|
|
|
NM_001035.3(RYR2):c.10806C>T (p.Cys3602=)
|
|
|
NM_001035.3(RYR2):c.10818C>T (p.Ala3606=)
|
rs1558298221
|
|
NM_001035.3(RYR2):c.10824A>G (p.Leu3608=)
|
rs1223609812
|
|
NM_001035.3(RYR2):c.10838+14T>C
|
|
|
NM_001035.3(RYR2):c.10838+15del
|
|
|
NM_001035.3(RYR2):c.10839-17T>C
|
|
|
NM_001035.3(RYR2):c.10839-7C>G
|
|
|
NM_001035.3(RYR2):c.10878G>A (p.Lys3626=)
|
|
|
NM_001035.3(RYR2):c.10893A>T (p.Thr3631=)
|
rs1207013704
|
|
NM_001035.3(RYR2):c.108C>T (p.Cys36=)
|
rs1322583844
|
|
NM_001035.3(RYR2):c.10911A>G (p.Glu3637=)
|
|
|
NM_001035.3(RYR2):c.10914T>C (p.Asp3638=)
|
rs1690563932
|
|
NM_001035.3(RYR2):c.10923A>T (p.Ile3641=)
|
|
|
NM_001035.3(RYR2):c.10935+11A>T
|
|
|
NM_001035.3(RYR2):c.10935+16G>T
|
|
|
NM_001035.3(RYR2):c.10935+17_10935+18delinsTT
|
rs1690568496
|
|
NM_001035.3(RYR2):c.10935+20C>A
|
|
|
NM_001035.3(RYR2):c.10936-15T>A
|
rs372569768
|
|
NM_001035.3(RYR2):c.10936-15T>C
|
|
|
NM_001035.3(RYR2):c.10936-16T>C
|
|
|
NM_001035.3(RYR2):c.10936-19A>G
|
|
|
NM_001035.3(RYR2):c.10936-8T>C
|
|
|
NM_001035.3(RYR2):c.10965T>C (p.Asp3655=)
|
rs1573718403
|
|
NM_001035.3(RYR2):c.10974T>C (p.Thr3658=)
|
rs2149168019
|
|
NM_001035.3(RYR2):c.10977G>A (p.Lys3659=)
|
rs2149168060
|
|
NM_001035.3(RYR2):c.10980A>G (p.Arg3660=)
|
|
|
NM_001035.3(RYR2):c.10992A>G (p.Leu3664=)
|
rs2149168131
|
|
NM_001035.3(RYR2):c.11004C>T (p.Ile3668=)
|
rs1464010382
|
|
NM_001035.3(RYR2):c.1101C>T (p.Asp367=)
|
|
|
NM_001035.3(RYR2):c.11031A>T (p.Thr3677=)
|
|
|
NM_001035.3(RYR2):c.11037A>G (p.Lys3679=)
|
|
|
NM_001035.3(RYR2):c.11039+13G>A
|
|
|
NM_001035.3(RYR2):c.11039+14G>C
|
rs748101859
|
|
NM_001035.3(RYR2):c.11039+17T>C
|
rs2149168464
|
|
NM_001035.3(RYR2):c.11039+9G>A
|
|
|
NM_001035.3(RYR2):c.11040-14C>A
|
|
|
NM_001035.3(RYR2):c.11040-19T>C
|
|
|
NM_001035.3(RYR2):c.11040-20T>C
|
|
|
NM_001035.3(RYR2):c.11043A>G (p.Lys3681=)
|
|
|
NM_001035.3(RYR2):c.1107C>T (p.Gly369=)
|
rs767221382
|
|
NM_001035.3(RYR2):c.11091+13C>G
|
|
|
NM_001035.3(RYR2):c.11091+16T>G
|
|
|
NM_001035.3(RYR2):c.11091+16dup
|
|
|
NM_001035.3(RYR2):c.11091+20G>A
|
|
|
NM_001035.3(RYR2):c.11092-16T>G
|
|
|
NM_001035.3(RYR2):c.11092-21_11092-5del
|
|
|
NM_001035.3(RYR2):c.11092-5T>C
|
rs1322016202
|
|
NM_001035.3(RYR2):c.11092-8del
|
rs752640368
|
|
NM_001035.3(RYR2):c.11092-8dup
|
|
|
NM_001035.3(RYR2):c.11120G>A (p.Gly3707Asp)
|
rs755613281
|
|
NM_001035.3(RYR2):c.11133G>A (p.Val3711=)
|
|
|
NM_001035.3(RYR2):c.11145+10A>T
|
|
|
NM_001035.3(RYR2):c.11145+18G>A
|
|
|
NM_001035.3(RYR2):c.11145+8G>A
|
|
|
NM_001035.3(RYR2):c.11146-15G>T
|
rs1692945934
|
|
NM_001035.3(RYR2):c.11146-17T>C
|
|
|
NM_001035.3(RYR2):c.11146-19G>A
|
|
|
NM_001035.3(RYR2):c.11146-8G>A
|
rs1425021300
|
|
NM_001035.3(RYR2):c.11175A>G (p.Leu3725=)
|
rs2149261872
|
|
NM_001035.3(RYR2):c.11181G>A (p.Gln3727=)
|
|
|
NM_001035.3(RYR2):c.1119T>G (p.Thr373=)
|
rs202231354
|
|
NM_001035.3(RYR2):c.11202T>A (p.Arg3734=)
|
rs763792914
|
|
NM_001035.3(RYR2):c.11202T>G (p.Arg3734=)
|
rs763792914
|
|
NM_001035.3(RYR2):c.1122C>T (p.Tyr374=)
|
rs757201844
|
|
NM_001035.3(RYR2):c.11245+18C>G
|
|
|
NM_001035.3(RYR2):c.11245+20C>T
|
|
|
NM_001035.3(RYR2):c.11245+7T>G
|
rs548465188
|
|
NM_001035.3(RYR2):c.11245+9C>A
|
rs1692956819
|
|
NM_001035.3(RYR2):c.11246-17T>C
|
rs2149266209
|
|
NM_001035.3(RYR2):c.11246-5C>A
|
|
|
NM_001035.3(RYR2):c.11246-6T>A
|
rs2149266259
|
|
NM_001035.3(RYR2):c.11246-8T>A
|
|
|
NM_001035.3(RYR2):c.11250A>G (p.Glu3750=)
|
|
|
NM_001035.3(RYR2):c.1128T>C (p.Ser376=)
|
rs2150147217
|
|
NM_001035.3(RYR2):c.1131G>A (p.Val377=)
|
|
|
NM_001035.3(RYR2):c.11325+7G>A
|
|
|
NM_001035.3(RYR2):c.11325+9T>C
|
|
|
NM_001035.3(RYR2):c.11326-10A>T
|
|
|
NM_001035.3(RYR2):c.11326-17T>G
|
|
|
NM_001035.3(RYR2):c.11326-19G>A
|
|
|
NM_001035.3(RYR2):c.11346G>A (p.Lys3782=)
|
|
|
NM_001035.3(RYR2):c.11355G>A (p.Lys3785=)
|
rs553416597
|
|
NM_001035.3(RYR2):c.11376C>T (p.Ser3792=)
|
|
|
NM_001035.3(RYR2):c.11379G>A (p.Leu3793=)
|
|
|
NM_001035.3(RYR2):c.11397A>G (p.Ser3799=)
|
rs1573837527
|
|
NM_001035.3(RYR2):c.11397A>T (p.Ser3799=)
|
|
|
NM_001035.3(RYR2):c.11402+7A>T
|
rs765365656
|
|
NM_001035.3(RYR2):c.11402+7_11402+9del
|
rs794728701
|
|
NM_001035.3(RYR2):c.11403-10G>T
|
rs1226426842
|
|
NM_001035.3(RYR2):c.11403-11T>C
|
rs2149276943
|
|
NM_001035.3(RYR2):c.11403-13C>T
|
|
|
NM_001035.3(RYR2):c.11403-14C>A
|
rs1284487377
|
|
NM_001035.3(RYR2):c.11403-17T>A
|
|
|
NM_001035.3(RYR2):c.11403-4A>G
|
rs1318526635
|
|
NM_001035.3(RYR2):c.11403-4A>T
|
|
|
NM_001035.3(RYR2):c.11403T>C (p.Ser3801=)
|
rs1261086877
|
|
NM_001035.3(RYR2):c.11406C>T (p.Val3802=)
|
|
|
NM_001035.3(RYR2):c.11413C>T (p.Leu3805=)
|
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
NM_001035.3(RYR2):c.11476+17T>A
|
|
|
NM_001035.3(RYR2):c.11476+9G>A
|
rs1019749781
|
|
NM_001035.3(RYR2):c.11477-8T>C
|
|
|
NM_001035.3(RYR2):c.11505C>T (p.Phe3835=)
|
|
|
NM_001035.3(RYR2):c.11508C>T (p.Thr3836=)
|
|
|
NM_001035.3(RYR2):c.11550C>T (p.His3850=)
|
|
|
NM_001035.3(RYR2):c.11557+11C>T
|
rs1354704411
|
|
NM_001035.3(RYR2):c.11557+14C>G
|
|
|
NM_001035.3(RYR2):c.11557+17A>T
|
|
|
NM_001035.3(RYR2):c.11558-17T>G
|
|
|
NM_001035.3(RYR2):c.11558-18T>G
|
|
|
NM_001035.3(RYR2):c.11558-19A>G
|
|
|
NM_001035.3(RYR2):c.11558-19A>T
|
rs2149314406
|
|
NM_001035.3(RYR2):c.11558-21_11558-19del
|
|
|
NM_001035.3(RYR2):c.11558-4A>C
|
|
|
NM_001035.3(RYR2):c.11558-4del
|
rs2149314509
|
|
NM_001035.3(RYR2):c.11589C>T (p.Gly3863=)
|
|
|
NM_001035.3(RYR2):c.1158T>C (p.Ser386=)
|
|
|
NM_001035.3(RYR2):c.11604C>G (p.Val3868=)
|
|
|
NM_001035.3(RYR2):c.11643T>G (p.Val3881=)
|
rs1558381908
|
|
NM_001035.3(RYR2):c.11646+17A>G
|
|
|
NM_001035.3(RYR2):c.11646+19T>G
|
|
|
NM_001035.3(RYR2):c.11646+7T>G
|
rs2149314843
|
|
NM_001035.3(RYR2):c.11646+8G>A
|
|
|
NM_001035.3(RYR2):c.11646+8G>T
|
|
|
NM_001035.3(RYR2):c.11646+9C>A
|
rs2149314865
|
|
NM_001035.3(RYR2):c.11647-15_11647-13del
|
|
|
NM_001035.3(RYR2):c.11647-16C>T
|
|
|
NM_001035.3(RYR2):c.11647-7T>C
|
rs771126125
|
|
NM_001035.3(RYR2):c.11647-9A>G
|
|
|
NM_001035.3(RYR2):c.11655T>C (p.Ile3885=)
|
rs2149319005
|
|
NM_001035.3(RYR2):c.11661C>T (p.Asp3887=)
|
rs759576710
|
|
NM_001035.3(RYR2):c.11667T>C (p.Tyr3889=)
|
|
|
NM_001035.3(RYR2):c.11676C>T (p.Tyr3892=)
|
rs1168445245
|
|
NM_001035.3(RYR2):c.11688T>C (p.Asp3896=)
|
|
|
NM_001035.3(RYR2):c.1170+15A>C
|
|
|
NM_001035.3(RYR2):c.1170+16A>G
|
|
|
NM_001035.3(RYR2):c.1170+19A>T
|
rs1707901143
|
|
NM_001035.3(RYR2):c.1171-12G>A
|
|
|
NM_001035.3(RYR2):c.1171-14T>C
|
|
|
NM_001035.3(RYR2):c.1171-18A>C
|
|
|
NM_001035.3(RYR2):c.1171-18A>G
|
|
|
NM_001035.3(RYR2):c.1171-18del
|
|
|
NM_001035.3(RYR2):c.1171-19T>C
|
|
|
NM_001035.3(RYR2):c.11748C>T (p.Val3916=)
|
|
|
NM_001035.3(RYR2):c.11757T>C (p.Thr3919=)
|
rs1694434380
|
|
NM_001035.3(RYR2):c.11760T>A (p.Leu3920=)
|
|
|
NM_001035.3(RYR2):c.11760T>C (p.Leu3920=)
|
|
|
NM_001035.3(RYR2):c.11775+9T>C
|
|
|
NM_001035.3(RYR2):c.11776-13G>T
|
|
|
NM_001035.3(RYR2):c.11776-17G>A
|
|
|
NM_001035.3(RYR2):c.11776-17G>T
|
|
|
NM_001035.3(RYR2):c.11776-18T>G
|
rs746044321
|
|
NM_001035.3(RYR2):c.11776-7G>A
|
|
|
NM_001035.3(RYR2):c.11776-9A>G
|
|
|
NM_001035.3(RYR2):c.11778T>G (p.Gly3926=)
|
rs2149335282
|
|
NM_001035.3(RYR2):c.11784C>T (p.Cys3928=)
|
rs764651068
|
|
NM_001035.3(RYR2):c.11787T>C (p.Thr3929=)
|
|
|
NM_001035.3(RYR2):c.11808A>C (p.Ala3936=)
|
|
|
NM_001035.3(RYR2):c.11818C>T (p.Leu3940=)
|
|
|
NM_001035.3(RYR2):c.11877G>T (p.Ser3959=)
|
rs754610647
|
|
NM_001035.3(RYR2):c.11880+11T>C
|
|
|
NM_001035.3(RYR2):c.11880+14C>G
|
|
|
NM_001035.3(RYR2):c.11880+14C>T
|
rs756052547
|
|
NM_001035.3(RYR2):c.11880+17C>T
|
|
|
NM_001035.3(RYR2):c.11880+4AACT[2]
|
rs773240729
|
|
NM_001035.3(RYR2):c.11880+4AACT[4]
|
rs773240729
|
|
NM_001035.3(RYR2):c.11881-10A>G
|
rs1573922749
|
|
NM_001035.3(RYR2):c.11881-18C>G
|
|
|
NM_001035.3(RYR2):c.11881-19G>T
|
|
|
NM_001035.3(RYR2):c.1188A>G (p.Glu396=)
|
rs2150166045
|
|
NM_001035.3(RYR2):c.11898G>A (p.Glu3966=)
|
|
|
NM_001035.3(RYR2):c.11901A>C (p.Leu3967=)
|
rs2149344840
|
|
NM_001035.3(RYR2):c.11901A>G (p.Leu3967=)
|
|
|
NM_001035.3(RYR2):c.11911T>C (p.Leu3971=)
|
rs1393069119
|
|
NM_001035.3(RYR2):c.11937G>A (p.Val3979=)
|
|
|
NM_001035.3(RYR2):c.11940C>T (p.Val3980=)
|
|
|
NM_001035.3(RYR2):c.1194C>T (p.His398=)
|
rs794728816
|
|
NM_001035.3(RYR2):c.11962+12T>A
|
|
|
NM_001035.3(RYR2):c.11962+12T>G
|
|
|
NM_001035.3(RYR2):c.11962+13del
|
|
|
NM_001035.3(RYR2):c.11962+15T>C
|
|
|
NM_001035.3(RYR2):c.11962+20T>C
|
|
|
NM_001035.3(RYR2):c.11962+20_11962+21del
|
|
|
NM_001035.3(RYR2):c.11962+9_11962+13dup
|
rs764190942
|
|
NM_001035.3(RYR2):c.11963-11T>G
|
rs790889
|
|
NM_001035.3(RYR2):c.11963-17A>G
|
|
|
NM_001035.3(RYR2):c.11963-19G>A
|
|
|
NM_001035.3(RYR2):c.11964T>A (p.Gly3988=)
|
|
|
NM_001035.3(RYR2):c.12000G>A (p.Val4000=)
|
|
|
NM_001035.3(RYR2):c.12033G>A (p.Glu4011=)
|
|
|
NM_001035.3(RYR2):c.12042C>G (p.Leu4014=)
|
|
|
NM_001035.3(RYR2):c.12045A>G (p.Lys4015=)
|
|
|
NM_001035.3(RYR2):c.12051T>C (p.Phe4017=)
|
|
|
NM_001035.3(RYR2):c.12060C>T (p.Phe4020=)
|
|
|
NM_001035.3(RYR2):c.12081G>A (p.Thr4027=)
|
rs1695321287
|
|
NM_001035.3(RYR2):c.12093T>G (p.Thr4031=)
|
|
|
NM_001035.3(RYR2):c.12111C>A (p.Pro4037=)
|
|
|
NM_001035.3(RYR2):c.12117C>G (p.Gly4039=)
|
|
|
NM_001035.3(RYR2):c.12138G>A (p.Arg4046=)
|
rs2149352520
|
|
NM_001035.3(RYR2):c.12141C>T (p.Asp4047=)
|
rs1232796204
|
|
NM_001035.3(RYR2):c.1215G>A (p.Leu405=)
|
|
|
NM_001035.3(RYR2):c.1218G>C (p.Ser406=)
|
rs147389346
|
|
NM_001035.3(RYR2):c.1219A>C (p.Arg407=)
|
rs1382123934
|
|
NM_001035.3(RYR2):c.12216G>A (p.Thr4072=)
|
|
|
NM_001035.3(RYR2):c.12225T>C (p.Asn4075=)
|
rs2149352904
|
|
NM_001035.3(RYR2):c.12231C>A (p.Thr4077=)
|
rs1325431679
|
|
NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=)
|
rs1335612184
|
|
NM_001035.3(RYR2):c.12243A>G (p.Glu4081=)
|
rs766202701
|
|
NM_001035.3(RYR2):c.12249C>T (p.Phe4083=)
|
rs371599450
|
|
NM_001035.3(RYR2):c.12258C>T (p.Arg4086=)
|
rs2149353086
|
|
NM_001035.3(RYR2):c.12264C>T (p.His4088=)
|
rs1558404698
|
|
NM_001035.3(RYR2):c.12273G>C (p.Ala4091=)
|
rs966083978
|
|
NM_001035.3(RYR2):c.12282C>A (p.Ile4094=)
|
|
|
NM_001035.3(RYR2):c.12321G>A (p.Glu4107=)
|
|
|
NM_001035.3(RYR2):c.12339C>A (p.Thr4113=)
|
|
|
NM_001035.3(RYR2):c.12342A>G (p.Arg4114=)
|
|
|
NM_001035.3(RYR2):c.12354T>C (p.Phe4118=)
|
|
|
NM_001035.3(RYR2):c.12357G>A (p.Leu4119=)
|
rs2149353502
|
|
NM_001035.3(RYR2):c.1236A>G (p.Glu412=)
|
rs2150166360
|
|
NM_001035.3(RYR2):c.12372C>T (p.Ser4124=)
|
rs771994461
|
|
NM_001035.3(RYR2):c.12375C>G (p.Val4125=)
|
rs1434635546
|
|
NM_001035.3(RYR2):c.12376C>T (p.Leu4126=)
|
|
|
NM_001035.3(RYR2):c.12402C>A (p.Gly4134=)
|
rs2149353678
|
|
NM_001035.3(RYR2):c.12408C>T (p.Ile4136=)
|
rs1294331175
|
|
NM_001035.3(RYR2):c.12423C>T (p.Ser4141=)
|
|
|
NM_001035.3(RYR2):c.12426C>T (p.Ala4142=)
|
rs1573934435
|
|
NM_001035.3(RYR2):c.1242C>T (p.Arg414=)
|
|
|
NM_001035.3(RYR2):c.1243A>G (p.Thr415Ala)
|
rs545357663
|
|
NM_001035.3(RYR2):c.12447T>C (p.Tyr4149=)
|
rs2149353878
|
|
NM_001035.3(RYR2):c.12468C>T (p.Ser4156=)
|
|
|
NM_001035.3(RYR2):c.12525C>T (p.Asp4175=)
|
rs1347472531
|
|
NM_001035.3(RYR2):c.12534C>T (p.Asn4178=)
|
|
|
NM_001035.3(RYR2):c.12582G>A (p.Glu4194=)
|
rs2149354363
|
|
NM_001035.3(RYR2):c.12588C>T (p.Thr4196=)
|
|
|
NM_001035.3(RYR2):c.1258C>A (p.Arg420=)
|
rs190140598
|
|
NM_001035.3(RYR2):c.12606G>A (p.Leu4202=)
|
rs2149354452
|
|
NM_001035.3(RYR2):c.12609G>A (p.Ala4203=)
|
rs372943408
|
|
NM_001035.3(RYR2):c.12612T>C (p.Ala4204=)
|
|
|
NM_001035.3(RYR2):c.12636C>T (p.Asn4212=)
|
|
|
NM_001035.3(RYR2):c.1263C>T (p.Ser421=)
|
|
|
NM_001035.3(RYR2):c.12647C>T (p.Ala4216Val)
|
|
|
NM_001035.3(RYR2):c.12660A>G (p.Glu4220=)
|
rs1323430299
|
|
NM_001035.3(RYR2):c.12666G>A (p.Glu4222=)
|
rs1573935771
|
|
NM_001035.3(RYR2):c.1266A>G (p.Thr422=)
|
rs928759971
|
|
NM_001035.3(RYR2):c.12678G>A (p.Pro4226=)
|
|
|
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=)
|
rs768348987
|
|
NM_001035.3(RYR2):c.12681A>G (p.Glu4227=)
|
|
|
NM_001035.3(RYR2):c.12708C>T (p.Phe4236=)
|
rs2149354917
|
|
NM_001035.3(RYR2):c.12711C>T (p.Ser4237=)
|
rs1412516019
|
|
NM_001035.3(RYR2):c.12717G>C (p.Leu4239=)
|
|
|
NM_001035.3(RYR2):c.12720G>A (p.Thr4240=)
|
rs774851947
|
|
NM_001035.3(RYR2):c.12726G>A (p.Arg4242=)
|
|
|
NM_001035.3(RYR2):c.12732C>G (p.Ala4244=)
|
rs767833620
|
|
NM_001035.3(RYR2):c.12735G>A (p.Leu4245=)
|
|
|
NM_001035.3(RYR2):c.12741G>A (p.Ala4247=)
|
rs753089069
|
|
NM_001035.3(RYR2):c.12750C>T (p.Tyr4250=)
|
rs2149355086
|
|
NM_001035.3(RYR2):c.12753T>C (p.Asn4251=)
|
|
|
NM_001035.3(RYR2):c.12759G>A (p.Leu4253=)
|
rs2149355131
|
|
NM_001035.3(RYR2):c.12777C>T (p.Leu4259=)
|
|
|
NM_001035.3(RYR2):c.12780T>C (p.Ser4260=)
|
|
|
NM_001035.3(RYR2):c.12792G>A (p.Leu4264=)
|
rs749454470
|
|
NM_001035.3(RYR2):c.12795G>A (p.Lys4265=)
|
rs1695389411
|
|
NM_001035.3(RYR2):c.12800A>G (p.Gln4267Arg)
|
|
|
NM_001035.3(RYR2):c.12801G>A (p.Gln4267=)
|
|
|
NM_001035.3(RYR2):c.12811G>A (p.Val4271Ile)
|
|
|
NM_001035.3(RYR2):c.1281T>C (p.Asn427=)
|
rs375691875
|
|
NM_001035.3(RYR2):c.12843G>T (p.Thr4281=)
|
|
|
NM_001035.3(RYR2):c.12845C>T (p.Ala4282Val)
|
|
|
NM_001035.3(RYR2):c.12846C>G (p.Ala4282=)
|
|
|
NM_001035.3(RYR2):c.12861C>T (p.Tyr4287=)
|
|
|
NM_001035.3(RYR2):c.12883T>C (p.Leu4295=)
|
|
|
NM_001035.3(RYR2):c.1292+10C>A
|
|
|
NM_001035.3(RYR2):c.1292+15G>A
|
|
|
NM_001035.3(RYR2):c.1292+16T>C
|
rs2150166881
|
|
NM_001035.3(RYR2):c.1292+7T>G
|
rs1572362013
|
|
NM_001035.3(RYR2):c.1292+8T>C
|
rs1572362036
|
|
NM_001035.3(RYR2):c.1293-13T>C
|
|
|
NM_001035.3(RYR2):c.1293-14A>G
|
rs752527636
|
|
NM_001035.3(RYR2):c.1293-14A>T
|
rs752527636
|
|
NM_001035.3(RYR2):c.1293-18G>A
|
rs1572400333
|
|
NM_001035.3(RYR2):c.1293-6T>C
|
rs756239888
|
|
NM_001035.3(RYR2):c.12934C>T (p.Leu4312=)
|
|
|
NM_001035.3(RYR2):c.12936G>A (p.Leu4312=)
|
rs2149355823
|
|
NM_001035.3(RYR2):c.12939G>C (p.Leu4313=)
|
rs893697261
|
|
NM_001035.3(RYR2):c.1293G>A (p.Arg431=)
|
rs1658550441
|
|
NM_001035.3(RYR2):c.12963T>C (p.Gly4321=)
|
|
|
NM_001035.3(RYR2):c.12966T>A (p.Ala4322=)
|
|
|
NM_001035.3(RYR2):c.1296C>T (p.Gly432=)
|
rs184176405
|
|
NM_001035.3(RYR2):c.12990G>T (p.Leu4330=)
|
rs1558407591
|
|
NM_001035.3(RYR2):c.13023G>A (p.Glu4341=)
|
rs2149356131
|
|
NM_001035.3(RYR2):c.13041G>A (p.Glu4347=)
|
|
|
NM_001035.3(RYR2):c.13047A>G (p.Gly4349=)
|
rs2149356229
|
|
NM_001035.3(RYR2):c.13065A>G (p.Glu4355=)
|
rs1695412040
|
|
NM_001035.3(RYR2):c.13072C>T (p.Leu4358=)
|
|
|
NM_001035.3(RYR2):c.13077C>T (p.Pro4359=)
|
rs1695413897
|
|
NM_001035.3(RYR2):c.13080C>G (p.Ser4360=)
|
rs369964660
|
|
NM_001035.3(RYR2):c.13092C>T (p.Thr4364=)
|
|
|
NM_001035.3(RYR2):c.13098A>G (p.Leu4366=)
|
rs2149356435
|
|
NM_001035.3(RYR2):c.13101G>A (p.Lys4367=)
|
|
|
NM_001035.3(RYR2):c.13131G>A (p.Ser4377=)
|
|
|
NM_001035.3(RYR2):c.13134C>T (p.Asp4378=)
|
|
|
NM_001035.3(RYR2):c.1314G>A (p.Lys438=)
|
rs2150216878
|
|
NM_001035.3(RYR2):c.13156A>C (p.Arg4386=)
|
|
|
NM_001035.3(RYR2):c.13167A>G (p.Gly4389=)
|
rs878854152
|
|
NM_001035.3(RYR2):c.13173C>T (p.Tyr4391=)
|
|
|
NM_001035.3(RYR2):c.13206C>G (p.Leu4402=)
|
|
|
NM_001035.3(RYR2):c.13209T>C (p.Ser4403=)
|
|
|
NM_001035.3(RYR2):c.1320G>C (p.Ala440=)
|
rs887478410
|
|
NM_001035.3(RYR2):c.13233C>T (p.Pro4411=)
|
rs770195281
|
|
NM_001035.3(RYR2):c.13239T>C (p.Pro4413=)
|
|
|
NM_001035.3(RYR2):c.1323G>A (p.Lys441=)
|
|
|
NM_001035.3(RYR2):c.13248G>A (p.Gln4416=)
|
|
|
NM_001035.3(RYR2):c.13260+10C>G
|
|
|
NM_001035.3(RYR2):c.13260+10C>T
|
rs1695431070
|
|
NM_001035.3(RYR2):c.13260+13T>A
|
|
|
NM_001035.3(RYR2):c.13260+18C>T
|
|
|
NM_001035.3(RYR2):c.13260+19dup
|
rs2149357145
|
|
NM_001035.3(RYR2):c.13260+3_13260+6dup
|
rs1553323690
|
|
NM_001035.3(RYR2):c.13261-10C>T
|
|
|
NM_001035.3(RYR2):c.13261-14T>C
|
|
|
NM_001035.3(RYR2):c.13261-6T>C
|
|
|
NM_001035.3(RYR2):c.13261-9T>C
|
rs766481385
|
|
NM_001035.3(RYR2):c.13269G>A (p.Lys4423=)
|
rs1695515888
|
|
NM_001035.3(RYR2):c.1326T>G (p.Ala442=)
|
|
|
NM_001035.3(RYR2):c.13296A>G (p.Lys4432=)
|
|
|
NM_001035.3(RYR2):c.13328+14G>T
|
|
|
NM_001035.3(RYR2):c.13328+15C>A
|
|
|
NM_001035.3(RYR2):c.13328+15C>T
|
|
|
NM_001035.3(RYR2):c.13328+16A>G
|
|
|
NM_001035.3(RYR2):c.13329-10G>T
|
|
|
NM_001035.3(RYR2):c.13329-14del
|
|
|
NM_001035.3(RYR2):c.13329-19T>C
|
|
|
NM_001035.3(RYR2):c.13329-20T>G
|
|
|
NM_001035.3(RYR2):c.13329-21TTTG[2]
|
|
|
NM_001035.3(RYR2):c.13329-4A>G
|
|
|
NM_001035.3(RYR2):c.13329-6T>C
|
|
|
NM_001035.3(RYR2):c.13350A>G (p.Glu4450=)
|
rs1657867796
|
|
NM_001035.3(RYR2):c.13368C>T (p.Asp4456=)
|
rs1573952064
|
|
NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)
|
rs769311004
|
|
NM_001035.3(RYR2):c.13380A>G (p.Gln4460=)
|
|
|
NM_001035.3(RYR2):c.13424T>A (p.Val4475Glu)
|
rs1347737490
|
|
NM_001035.3(RYR2):c.13428A>C (p.Pro4476=)
|
rs1057522551
|
|
NM_001035.3(RYR2):c.13428A>G (p.Pro4476=)
|
|
|
NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala)
|
rs369933531
|
|
NM_001035.3(RYR2):c.13434A>T (p.Ser4478=)
|
|
|
NM_001035.3(RYR2):c.1344T>C (p.Pro448=)
|
rs772076225
|
|
NM_001035.3(RYR2):c.13458A>T (p.Ala4486=)
|
rs1657881375
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
NM_001035.3(RYR2):c.13476+9T>C
|
|
|
NM_001035.3(RYR2):c.13494C>T (p.Asn4498=)
|
|
|
NM_001035.3(RYR2):c.13530A>C (p.Ala4510=)
|
|
|
NM_001035.3(RYR2):c.13530A>G (p.Ala4510=)
|
rs755775674
|
|
NM_001035.3(RYR2):c.13554C>G (p.Leu4518=)
|
|
|
NM_001035.3(RYR2):c.13560T>C (p.Tyr4520=)
|
rs963715446
|
|
NM_001035.3(RYR2):c.13563+17G>C
|
rs2149379306
|
|
NM_001035.3(RYR2):c.13563+18T>C
|
|
|
NM_001035.3(RYR2):c.13564-18T>C
|
|
|
NM_001035.3(RYR2):c.13564-19T>C
|
|
|
NM_001035.3(RYR2):c.13575T>C (p.Ser4525=)
|
|
|
NM_001035.3(RYR2):c.13587A>G (p.Glu4529=)
|
|
|
NM_001035.3(RYR2):c.13605G>A (p.Thr4535=)
|
rs1573967641
|
|
NM_001035.3(RYR2):c.13627A>G (p.Lys4543Glu)
|
rs745869007
|
|
NM_001035.3(RYR2):c.1362A>C (p.Leu454=)
|
|
|
NM_001035.3(RYR2):c.1362A>G (p.Leu454=)
|
|
|
NM_001035.3(RYR2):c.13638C>T (p.Ser4546=)
|
|
|
NM_001035.3(RYR2):c.13639C>T (p.Leu4547=)
|
rs1487806159
|
|
NM_001035.3(RYR2):c.13650C>T (p.Ser4550=)
|
|
|
NM_001035.3(RYR2):c.13677T>C (p.Tyr4559=)
|
rs1658459675
|
|
NM_001035.3(RYR2):c.13689G>A (p.Glu4563=)
|
rs886039157
|
|
NM_001035.3(RYR2):c.13707G>A (p.Glu4569=)
|
rs1303471745
|
|
NM_001035.3(RYR2):c.13710C>A (p.Pro4570=)
|
|
|
NM_001035.3(RYR2):c.13713G>A (p.Thr4571=)
|
rs761552358
|
|
NM_001035.3(RYR2):c.13731T>C (p.Ile4577=)
|
rs1424050366
|
|
NM_001035.3(RYR2):c.13740G>T (p.Thr4580=)
|
rs115854664
|
|
NM_001035.3(RYR2):c.13770C>T (p.Tyr4590=)
|
rs1260477367
|
|
NM_001035.3(RYR2):c.13782+10_13782+13del
|
rs775418111
|
|
NM_001035.3(RYR2):c.13782+17C>T
|
|
|
NM_001035.3(RYR2):c.13782+18C>A
|
|
|
NM_001035.3(RYR2):c.13782+18C>T
|
|
|
NM_001035.3(RYR2):c.13782+19_13782+28del
|
|
|
NM_001035.3(RYR2):c.13782+7T>C
|
|
|
NM_001035.3(RYR2):c.13782+7T>G
|
rs1558424783
|
|
NM_001035.3(RYR2):c.13782+9G>C
|
rs1553327181
|
|
NM_001035.3(RYR2):c.13783-18T>C
|
|
|
NM_001035.3(RYR2):c.13783-6A>C
|
rs790901
|
|
NM_001035.3(RYR2):c.13783-6A>T
|
rs790901
|
|
NM_001035.3(RYR2):c.13783-7_13783-6delinsCG
|
rs1658754384
|
|
NM_001035.3(RYR2):c.13783-9C>G
|
rs1414090080
|
|
NM_001035.3(RYR2):c.13783-9C>T
|
|
|
NM_001035.3(RYR2):c.13789T>C (p.Leu4597=)
|
rs1253011897
|
|
NM_001035.3(RYR2):c.13824G>A (p.Arg4608=)
|
rs1658761246
|
|
NM_001035.3(RYR2):c.13824G>C (p.Arg4608=)
|
rs1658761246
|
|
NM_001035.3(RYR2):c.13830G>A (p.Leu4610=)
|
rs1311002036
|
|
NM_001035.3(RYR2):c.13848T>C (p.Tyr4616=)
|
rs2149388170
|
|
NM_001035.3(RYR2):c.13854A>C (p.Thr4618=)
|
|
|
NM_001035.3(RYR2):c.13860G>A (p.Gln4620=)
|
rs751521335
|
|
NM_001035.3(RYR2):c.13875T>C (p.Asp4625=)
|
|
|
NM_001035.3(RYR2):c.13899C>T (p.Leu4633=)
|
rs1057523875
|
|
NM_001035.3(RYR2):c.1389C>T (p.Phe463=)
|
rs781378149
|
|
NM_001035.3(RYR2):c.13913+16T>C
|
|
|
NM_001035.3(RYR2):c.13913+19G>A
|
|
|
NM_001035.3(RYR2):c.13913+20A>G
|
|
|
NM_001035.3(RYR2):c.13913+8A>C
|
|
|
NM_001035.3(RYR2):c.13914-11G>C
|
|
|
NM_001035.3(RYR2):c.13914-11G>T
|
|
|
NM_001035.3(RYR2):c.13914-16del
|
|
|
NM_001035.3(RYR2):c.13914-18_13914-17dup
|
|
|
NM_001035.3(RYR2):c.13914-4T>C
|
|
|
NM_001035.3(RYR2):c.13914-8T>C
|
rs1658966034
|
|
NM_001035.3(RYR2):c.13926C>T (p.Asn4642=)
|
rs2149392499
|
|
NM_001035.3(RYR2):c.13956+13G>A
|
rs759555189
|
|
NM_001035.3(RYR2):c.13957-7C>T
|
rs1659470496
|
|
NM_001035.3(RYR2):c.1395C>A (p.Pro465=)
|
rs111990043
|
|
NM_001035.3(RYR2):c.1395C>G (p.Pro465=)
|
rs111990043
|
|
NM_001035.3(RYR2):c.1395C>T (p.Pro465=)
|
|
|
NM_001035.3(RYR2):c.13989A>G (p.Arg4663=)
|
rs2149404155
|
|
NM_001035.3(RYR2):c.14013C>A (p.Gly4671=)
|
rs1416459319
|
|
NM_001035.3(RYR2):c.14028T>C (p.Ala4676=)
|
|
|
NM_001035.3(RYR2):c.14043T>C (p.Asp4681=)
|
rs1659489574
|
|
NM_001035.3(RYR2):c.1405C>G (p.His469Asp)
|
|
|
NM_001035.3(RYR2):c.14064A>C (p.Pro4688=)
|
rs2149404496
|
|
NM_001035.3(RYR2):c.14073C>T (p.Asp4691=)
|
|
|
NM_001035.3(RYR2):c.14076C>T (p.Ser4692=)
|
|
|
NM_001035.3(RYR2):c.14079C>G (p.Ser4693=)
|
rs1553330741
|
|
NM_001035.3(RYR2):c.14090+11C>T
|
rs2149404729
|
|
NM_001035.3(RYR2):c.14090+16G>A
|
|
|
NM_001035.3(RYR2):c.14090+16dup
|
|
|
NM_001035.3(RYR2):c.14090+17C>T
|
rs1397472913
|
|
NM_001035.3(RYR2):c.14091-10G>T
|
rs199569629
|
|
NM_001035.3(RYR2):c.14091-18T>A
|
|
|
NM_001035.3(RYR2):c.14091-20T>A
|
|
|
NM_001035.3(RYR2):c.14091-20T>G
|
|
|
NM_001035.3(RYR2):c.14091-20_14091-19insG
|
|
|
NM_001035.3(RYR2):c.14091-4G>A
|
rs1380406964
|
|
NM_001035.3(RYR2):c.14094G>T (p.Leu4698=)
|
rs2149419480
|
|
NM_001035.3(RYR2):c.14133A>G (p.Gly4711=)
|
rs1487075001
|
|
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)
|
rs756435572
|
|
NM_001035.3(RYR2):c.14136C>T (p.Val4712=)
|
rs756435572
|
|
NM_001035.3(RYR2):c.14139T>C (p.Val4713=)
|
rs2149419643
|
|
NM_001035.3(RYR2):c.14145T>C (p.Thr4715=)
|
|
|
NM_001035.3(RYR2):c.14148C>T (p.Asp4716=)
|
|
|
NM_001035.3(RYR2):c.14151+10C>G
|
rs2149419733
|
|
NM_001035.3(RYR2):c.14151+12T>A
|
rs2149419743
|
|
NM_001035.3(RYR2):c.14151+18T>A
|
|
|
NM_001035.3(RYR2):c.14151+8T>C
|
|
|
NM_001035.3(RYR2):c.14152-13T>C
|
rs2149437375
|
|
NM_001035.3(RYR2):c.14152-16C>G
|
rs764414769
|
|
NM_001035.3(RYR2):c.14152-16C>T
|
rs764414769
|
|
NM_001035.3(RYR2):c.14152-18C>T
|
|
|
NM_001035.3(RYR2):c.14152-20C>A
|
rs2149437341
|
|
NM_001035.3(RYR2):c.14152-8C>G
|
rs1660611538
|
|
NM_001035.3(RYR2):c.14164C>T (p.Leu4722=)
|
rs2149437433
|
|
NM_001035.3(RYR2):c.14169C>T (p.Ala4723=)
|
rs1222318801
|
|
NM_001035.3(RYR2):c.14181T>A (p.Thr4727=)
|
|
|
NM_001035.3(RYR2):c.14196A>T (p.Gly4732=)
|
rs2149437535
|
|
NM_001035.3(RYR2):c.14199C>T (p.His4733=)
|
|
|
NM_001035.3(RYR2):c.14232C>T (p.Leu4744=)
|
rs777371415
|
|
NM_001035.3(RYR2):c.14241T>C (p.Ala4747=)
|
rs769753371
|
|
NM_001035.3(RYR2):c.14250C>T (p.Phe4750=)
|
|
|
NM_001035.3(RYR2):c.14259A>G (p.Leu4753=)
|
rs1660620758
|
|
NM_001035.3(RYR2):c.14265C>G (p.Thr4755=)
|
rs2149437750
|
|
NM_001035.3(RYR2):c.14265C>T (p.Thr4755=)
|
rs2149437750
|
|
NM_001035.3(RYR2):c.14271G>A (p.Leu4757=)
|
rs2149437767
|
|
NM_001035.3(RYR2):c.14274C>T (p.Ser4758=)
|
rs2149437784
|
|
NM_001035.3(RYR2):c.14289T>C (p.Asn4763=)
|
|
|
NM_001035.3(RYR2):c.14292C>G (p.Gly4764=)
|
rs1660622870
|
|
NM_001035.3(RYR2):c.14298+10T>G
|
rs377240284
|
|
NM_001035.3(RYR2):c.14298+13T>C
|
|
|
NM_001035.3(RYR2):c.14298+14C>A
|
|
|
NM_001035.3(RYR2):c.14298+18T>G
|
|
|
NM_001035.3(RYR2):c.14298+19T>A
|
|
|
NM_001035.3(RYR2):c.14298+20C>G
|
|
|
NM_001035.3(RYR2):c.14298+9T>C
|
|
|
NM_001035.3(RYR2):c.14299-9G>A
|
rs1660957267
|
|
NM_001035.3(RYR2):c.14310C>G (p.Thr4770=)
|
|
|
NM_001035.3(RYR2):c.14316C>T (p.Gly4772=)
|
rs2149446388
|
|
NM_001035.3(RYR2):c.14319A>G (p.Leu4773=)
|
|
|
NM_001035.3(RYR2):c.1431C>T (p.Asn477=)
|
rs1225809471
|
|
NM_001035.3(RYR2):c.14338C>T (p.Leu4780=)
|
rs764103963
|
|
NM_001035.3(RYR2):c.14346T>C (p.Thr4782=)
|
rs1660962830
|
|
NM_001035.3(RYR2):c.14352G>A (p.Val4784=)
|
|
|
NM_001035.3(RYR2):c.14388T>C (p.Ser4796=)
|
rs2149446615
|
|
NM_001035.3(RYR2):c.14433+13C>A
|
|
|
NM_001035.3(RYR2):c.14434-15A>C
|
|
|
NM_001035.3(RYR2):c.14434-15A>G
|
|
|
NM_001035.3(RYR2):c.14434-15A>T
|
rs1414554358
|
|
NM_001035.3(RYR2):c.14434-17C>G
|
|
|
NM_001035.3(RYR2):c.14434-19T>C
|
|
|
NM_001035.3(RYR2):c.14434-5T>C
|
rs2102824382
|
|
NM_001035.3(RYR2):c.14439T>C (p.Tyr4813=)
|
rs2102824544
|
|
NM_001035.3(RYR2):c.14475A>T (p.Gly4825=)
|
|
|
NM_001035.3(RYR2):c.14493C>A (p.Ile4831=)
|
|
|
NM_001035.3(RYR2):c.14511T>C (p.Asp4837=)
|
rs2102825210
|
|
NM_001035.3(RYR2):c.14517T>C (p.Tyr4839=)
|
rs2102825273
|
|
NM_001035.3(RYR2):c.14527C>A (p.Arg4843=)
|
rs1553339074
|
|
NM_001035.3(RYR2):c.14529A>C (p.Arg4843=)
|
|
|
NM_001035.3(RYR2):c.14553C>T (p.Phe4851=)
|
|
|
NM_001035.3(RYR2):c.1455G>A (p.Arg485=)
|
rs2150218150
|
|
NM_001035.3(RYR2):c.14577G>A (p.Leu4859=)
|
rs1662156109
|
|
NM_001035.3(RYR2):c.14590+13_14590+15del
|
|
|
NM_001035.3(RYR2):c.14590+15C>T
|
rs2102826245
|
|
NM_001035.3(RYR2):c.14590+19G>A
|
|
|
NM_001035.3(RYR2):c.14590+7A>C
|
rs1553339087
|
|
NM_001035.3(RYR2):c.14590+7A>G
|
rs1553339087
|
|
NM_001035.3(RYR2):c.14591-11_14591-8del
|
|
|
NM_001035.3(RYR2):c.14591-13T>G
|
rs1663397019
|
|
NM_001035.3(RYR2):c.14591-16T>G
|
|
|
NM_001035.3(RYR2):c.14591-20G>A
|
|
|
NM_001035.3(RYR2):c.14591-5A>G
|
rs1663397881
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
NM_001035.3(RYR2):c.14592T>C (p.Gly4864=)
|
rs774554572
|
|
NM_001035.3(RYR2):c.14592T>G (p.Gly4864=)
|
rs774554572
|
|
NM_001035.3(RYR2):c.14595A>G (p.Leu4865=)
|
|
|
NM_001035.3(RYR2):c.14617C>T (p.Leu4873=)
|
rs1663400290
|
|
NM_001035.3(RYR2):c.14634A>G (p.Glu4878=)
|
|
|
NM_001035.3(RYR2):c.14637A>G (p.Gln4879=)
|
rs1553341953
|
|
NM_001035.3(RYR2):c.14655+13A>G
|
|
|
NM_001035.3(RYR2):c.14655+19G>A
|
|
|
NM_001035.3(RYR2):c.14655+7T>C
|
|
|
NM_001035.3(RYR2):c.14656-13C>A
|
rs1663654908
|
|
NM_001035.3(RYR2):c.14656-14C>G
|
|
|
NM_001035.3(RYR2):c.14656-19A>G
|
|
|
NM_001035.3(RYR2):c.14656-4C>G
|
|
|
NM_001035.3(RYR2):c.14656-6T>C
|
rs2102946547
|
|
NM_001035.3(RYR2):c.14661A>G (p.Lys4887=)
|
|
|
NM_001035.3(RYR2):c.14676G>A (p.Gly4892=)
|
|
|
NM_001035.3(RYR2):c.14685T>C (p.Asn4895=)
|
rs2102946919
|
|
NM_001035.3(RYR2):c.14700A>C (p.Thr4900=)
|
|
|
NM_001035.3(RYR2):c.14703G>A (p.Val4901=)
|
|
|
NM_001035.3(RYR2):c.1470G>A (p.Gln490=)
|
rs752945105
|
|
NM_001035.3(RYR2):c.14724C>T (p.His4908=)
|
|
|
NM_001035.3(RYR2):c.14727T>A (p.Thr4909=)
|
rs1663663783
|
|
NM_001035.3(RYR2):c.14730A>G (p.Leu4910=)
|
rs1553342510
|
|
NM_001035.3(RYR2):c.14736G>A (p.Glu4912=)
|
|
|
NM_001035.3(RYR2):c.14739C>T (p.His4913=)
|
rs767291905
|
|
NM_001035.3(RYR2):c.14756+12C>A
|
rs2275693
|
|
NM_001035.3(RYR2):c.14756+13G>A
|
|
|
NM_001035.3(RYR2):c.14756+14T>C
|
|
|
NM_001035.3(RYR2):c.14756+7G>T
|
|
|
NM_001035.3(RYR2):c.14756+8T>A
|
rs2102947779
|
|
NM_001035.3(RYR2):c.14757-10G>A
|
rs1483183617
|
|
NM_001035.3(RYR2):c.14757-10G>T
|
|
|
NM_001035.3(RYR2):c.14757-14C>G
|
|
|
NM_001035.3(RYR2):c.14757-18G>A
|
rs375553165
|
|
NM_001035.3(RYR2):c.14757-20C>G
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.14757-8A>G
|
|
|
NM_001035.3(RYR2):c.1476+20C>T
|
|
|
NM_001035.3(RYR2):c.1477-13T>G
|
|
|
NM_001035.3(RYR2):c.1477-15_1477-14insC
|
|
|
NM_001035.3(RYR2):c.1477-7G>T
|
rs763127313
|
|
NM_001035.3(RYR2):c.14778A>C (p.Ile4926=)
|
|
|
NM_001035.3(RYR2):c.14808+11T>C
|
|
|
NM_001035.3(RYR2):c.14808+17A>G
|
|
|
NM_001035.3(RYR2):c.14809-14C>T
|
|
|
NM_001035.3(RYR2):c.14809-14del
|
|
|
NM_001035.3(RYR2):c.14809-16del
|
rs769123824
|
|
NM_001035.3(RYR2):c.14809-4G>A
|
rs1574134275
|
|
NM_001035.3(RYR2):c.14895G>A (p.Gln4965=)
|
rs770551852
|
|
NM_001035.3(RYR2):c.14898A>T (p.Leu4966=)
|
|
|
NM_001035.3(RYR2):c.1503C>T (p.Cys501=)
|
rs1451394775
|
|
NM_001035.3(RYR2):c.1539C>T (p.His513=)
|
rs1303496576
|
|
NM_001035.3(RYR2):c.1554T>C (p.Ala518=)
|
rs2150229564
|
|
NM_001035.3(RYR2):c.1558C>A (p.Arg520=)
|
rs749567039
|
|
NM_001035.3(RYR2):c.1566A>T (p.Ala522=)
|
rs1658864720
|
|
NM_001035.3(RYR2):c.156T>C (p.Thr52=)
|
|
|
NM_001035.3(RYR2):c.1581A>G (p.Lys527=)
|
|
|
NM_001035.3(RYR2):c.1596T>C (p.Ser532=)
|
rs796950414
|
|
NM_001035.3(RYR2):c.1599G>A (p.Leu533=)
|
|
|
NM_001035.3(RYR2):c.1605G>A (p.Glu535=)
|
rs2150229955
|
|
NM_001035.3(RYR2):c.1612+10A>G
|
rs886046262
|
|
NM_001035.3(RYR2):c.1612+13A>T
|
|
|
NM_001035.3(RYR2):c.1612+13_1612+14delinsGC
|
rs1064795529
|
|
NM_001035.3(RYR2):c.1612+18G>T
|
|
|
NM_001035.3(RYR2):c.1612+8G>C
|
rs375122829
|
|
NM_001035.3(RYR2):c.1612+9C>T
|
|
|
NM_001035.3(RYR2):c.1613-16A>G
|
|
|
NM_001035.3(RYR2):c.1613-18C>G
|
|
|
NM_001035.3(RYR2):c.1613-20A>G
|
|
|
NM_001035.3(RYR2):c.1613-4G>C
|
rs1553462847
|
|
NM_001035.3(RYR2):c.1613-9C>G
|
|
|
NM_001035.3(RYR2):c.1641C>T (p.Asn547=)
|
|
|
NM_001035.3(RYR2):c.1644T>C (p.Cys548=)
|
|
|
NM_001035.3(RYR2):c.1647T>C (p.Ala549=)
|
rs1553462870
|
|
NM_001035.3(RYR2):c.1656T>C (p.Ser552=)
|
rs780295728
|
|
NM_001035.3(RYR2):c.1659C>T (p.Gly553=)
|
rs2150301358
|
|
NM_001035.3(RYR2):c.1665C>G (p.Leu555=)
|
rs371262363
|
|
NM_001035.3(RYR2):c.1672T>C (p.Leu558=)
|
|
|
NM_001035.3(RYR2):c.168+11G>A
|
|
|
NM_001035.3(RYR2):c.168+14T>G
|
|
|
NM_001035.3(RYR2):c.168+17C>G
|
|
|
NM_001035.3(RYR2):c.1686G>A (p.Leu562=)
|
|
|
NM_001035.3(RYR2):c.169-15C>G
|
|
|
NM_001035.3(RYR2):c.169-19T>C
|
|
|
NM_001035.3(RYR2):c.169-8C>T
|
|
|
NM_001035.3(RYR2):c.1708+11T>C
|
|
|
NM_001035.3(RYR2):c.1709-12T>C
|
|
|
NM_001035.3(RYR2):c.1709-17_1709-14del
|
rs1064794455
|
|
NM_001035.3(RYR2):c.1709-18T>G
|
|
|
NM_001035.3(RYR2):c.1709-8A>G
|
|
|
NM_001035.3(RYR2):c.1723T>C (p.Leu575=)
|
rs2150412869
|
|
NM_001035.3(RYR2):c.1734T>G (p.Val578=)
|
|
|
NM_001035.3(RYR2):c.174G>A (p.Val58=)
|
|
|
NM_001035.3(RYR2):c.1758A>G (p.Leu586=)
|
rs1260289435
|
|
NM_001035.3(RYR2):c.1770A>G (p.Lys590=)
|
rs2150412988
|
|
NM_001035.3(RYR2):c.177C>G (p.Pro59=)
|
rs1274699222
|
|
NM_001035.3(RYR2):c.1824C>T (p.His608=)
|
rs2150413338
|
|
NM_001035.3(RYR2):c.1827+11T>C
|
|
|
NM_001035.3(RYR2):c.1827+9_1827+12del
|
rs2150413372
|
|
NM_001035.3(RYR2):c.1828-12T>A
|
|
|
NM_001035.3(RYR2):c.1828-12T>G
|
rs1663578215
|
|
NM_001035.3(RYR2):c.1828-16T>A
|
|
|
NM_001035.3(RYR2):c.1828-17G>A
|
|
|
NM_001035.3(RYR2):c.1828-19A>G
|
|
|
NM_001035.3(RYR2):c.1828-8C>G
|
|
|
NM_001035.3(RYR2):c.1839C>A (p.Val613=)
|
|
|
NM_001035.3(RYR2):c.1848A>C (p.Ser616=)
|
|
|
NM_001035.3(RYR2):c.1851C>T (p.Leu617=)
|
|
|
NM_001035.3(RYR2):c.1884C>T (p.Asn628=)
|
|
|
NM_001035.3(RYR2):c.1888C>A (p.His630Asn)
|
rs1195734687
|
|
NM_001035.3(RYR2):c.1908C>G (p.Leu636=)
|
|
|
NM_001035.3(RYR2):c.192C>T (p.Ile64=)
|
|
|
NM_001035.3(RYR2):c.1944T>C (p.Leu648=)
|
|
|
NM_001035.3(RYR2):c.1947G>A (p.Val649=)
|
rs1663593634
|
|
NM_001035.3(RYR2):c.1953T>C (p.His651=)
|
rs1663595328
|
|
NM_001035.3(RYR2):c.195C>T (p.Cys65=)
|
|
|
NM_001035.3(RYR2):c.1961+14G>A
|
|
|
NM_001035.3(RYR2):c.1961+15A>G
|
|
|
NM_001035.3(RYR2):c.1961+16C>T
|
rs756259197
|
|
NM_001035.3(RYR2):c.1961+18A>G
|
|
|
NM_001035.3(RYR2):c.1962-12G>T
|
|
|
NM_001035.3(RYR2):c.1962-7T>C
|
|
|
NM_001035.3(RYR2):c.1968A>G (p.Arg656=)
|
|
|
NM_001035.3(RYR2):c.1974T>C (p.Asn658=)
|
|
|
NM_001035.3(RYR2):c.2013G>A (p.Lys671=)
|
rs1192622030
|
|
NM_001035.3(RYR2):c.2016A>G (p.Lys672=)
|
|
|
NM_001035.3(RYR2):c.2028A>G (p.Glu676=)
|
|
|
NM_001035.3(RYR2):c.2046A>T (p.Thr682=)
|
rs116098815
|
|
NM_001035.3(RYR2):c.2058G>C (p.Val686=)
|
|
|
NM_001035.3(RYR2):c.205C>T (p.Leu69=)
|
|
|
NM_001035.3(RYR2):c.2076C>T (p.His692=)
|
rs1282880190
|
|
NM_001035.3(RYR2):c.2094T>C (p.Ala698=)
|
rs1572596285
|
|
NM_001035.3(RYR2):c.2097C>T (p.Ser699=)
|
rs2150448554
|
|
NM_001035.3(RYR2):c.2109T>C (p.Tyr703=)
|
|
|
NM_001035.3(RYR2):c.210G>A (p.Glu70=)
|
|
|
NM_001035.3(RYR2):c.2118C>T (p.Tyr706=)
|
rs1431902945
|
|
NM_001035.3(RYR2):c.2145A>T (p.Gly715=)
|
rs764163453
|
|
NM_001035.3(RYR2):c.2148T>C (p.Asn716=)
|
rs1572596625
|
|
NM_001035.3(RYR2):c.2169C>T (p.Phe723=)
|
|
|
NM_001035.3(RYR2):c.2190T>C (p.Leu730=)
|
rs991873417
|
|
NM_001035.3(RYR2):c.21C>A (p.Gly7=)
|
|
|
NM_001035.3(RYR2):c.2204-10C>T
|
rs886046264
|
|
NM_001035.3(RYR2):c.2204-11C>A
|
|
|
NM_001035.3(RYR2):c.2204-14T>C
|
rs767973692
|
|
NM_001035.3(RYR2):c.2204-15T>C
|
rs1010022959
|
|
NM_001035.3(RYR2):c.2204-17dup
|
|
|
NM_001035.3(RYR2):c.2204-20T>A
|
|
|
NM_001035.3(RYR2):c.2204-8C>T
|
|
|
NM_001035.3(RYR2):c.2208T>C (p.Cys736=)
|
|
|
NM_001035.3(RYR2):c.2211T>A (p.Ile737=)
|
|
|
NM_001035.3(RYR2):c.2217T>C (p.Arg739=)
|
|
|
NM_001035.3(RYR2):c.2220T>C (p.Thr740=)
|
|
|
NM_001035.3(RYR2):c.2253T>A (p.Thr751=)
|
|
|
NM_001035.3(RYR2):c.2253T>C (p.Thr751=)
|
rs762905211
|
|
NM_001035.3(RYR2):c.2301G>A (p.Ser767=)
|
rs117588730
|
|
NM_001035.3(RYR2):c.2301G>C (p.Ser767=)
|
|
|
NM_001035.3(RYR2):c.2328A>G (p.Gln776=)
|
|
|
NM_001035.3(RYR2):c.2331A>G (p.Gly777=)
|
|
|
NM_001035.3(RYR2):c.2349C>T (p.Asn783=)
|
rs749506479
|
|
NM_001035.3(RYR2):c.2361C>T (p.Leu787=)
|
|
|
NM_001035.3(RYR2):c.2367T>C (p.Phe789=)
|
|
|
NM_001035.3(RYR2):c.2373C>A (p.Val791=)
|
rs770431899
|
|
NM_001035.3(RYR2):c.2396+12T>A
|
rs876657576
|
|
NM_001035.3(RYR2):c.2396+12T>C
|
|
|
NM_001035.3(RYR2):c.2396+15G>A
|
|
|
NM_001035.3(RYR2):c.2396+17T>A
|
|
|
NM_001035.3(RYR2):c.2396+19T>G
|
|
|
NM_001035.3(RYR2):c.2396+20T>C
|
|
|
NM_001035.3(RYR2):c.2396+7A>C
|
rs992293461
|
|
NM_001035.3(RYR2):c.2396+9G>A
|
|
|
NM_001035.3(RYR2):c.2396+9G>T
|
rs1572614163
|
|
NM_001035.3(RYR2):c.2397-11A>G
|
|
|
NM_001035.3(RYR2):c.2397-15G>A
|
|
|
NM_001035.3(RYR2):c.2397-20C>G
|
|
|
NM_001035.3(RYR2):c.2409G>A (p.Leu803=)
|
|
|
NM_001035.3(RYR2):c.2415A>C (p.Gly805=)
|
rs1572625083
|
|
NM_001035.3(RYR2):c.2418G>A (p.Gly806=)
|
rs1572625120
|
|
NM_001035.3(RYR2):c.2442T>A (p.Leu814=)
|
|
|
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)
|
rs780266883
|
|
NM_001035.3(RYR2):c.244C>T (p.Leu82=)
|
rs572934844
|
|
NM_001035.3(RYR2):c.2451T>G (p.Pro817=)
|
rs1664864797
|
|
NM_001035.3(RYR2):c.2454G>A (p.Gly818=)
|
rs769137517
|
|
NM_001035.3(RYR2):c.2454G>T (p.Gly818=)
|
rs769137517
|
|
NM_001035.3(RYR2):c.246G>A (p.Leu82=)
|
|
|
NM_001035.3(RYR2):c.2502G>A (p.Val834=)
|
|
|
NM_001035.3(RYR2):c.2508C>T (p.His836=)
|
rs1572625606
|
|
NM_001035.3(RYR2):c.2520C>T (p.Tyr840=)
|
rs1553475643
|
|
NM_001035.3(RYR2):c.2547C>T (p.Asp849=)
|
rs780283100
|
|
NM_001035.3(RYR2):c.2548C>T (p.Leu850=)
|
|
|
NM_001035.3(RYR2):c.255C>T (p.Thr85=)
|
|
|
NM_001035.3(RYR2):c.2562A>C (p.Thr854=)
|
rs727503398
|
|
NM_001035.3(RYR2):c.2562A>T (p.Thr854=)
|
|
|
NM_001035.3(RYR2):c.258G>A (p.Val86=)
|
rs780635739
|
|
NM_001035.3(RYR2):c.2613+10T>G
|
rs1664881012
|
|
NM_001035.3(RYR2):c.2613+11C>A
|
rs117018661
|
|
NM_001035.3(RYR2):c.2613+8G>A
|
rs776678807
|
|
NM_001035.3(RYR2):c.2614-12T>G
|
|
|
NM_001035.3(RYR2):c.2614-18T>A
|
|
|
NM_001035.3(RYR2):c.2614-6T>C
|
|
|
NM_001035.3(RYR2):c.2616C>A (p.Ile872=)
|
|
|
NM_001035.3(RYR2):c.261G>T (p.Glu87Asp)
|
|
|
NM_001035.3(RYR2):c.2628T>C (p.Pro876=)
|
|
|
NM_001035.3(RYR2):c.2667C>T (p.Ile889=)
|
|
|
NM_001035.3(RYR2):c.267A>G (p.Ser89=)
|
|
|
NM_001035.3(RYR2):c.2718+20A>G
|
|
|
NM_001035.3(RYR2):c.2719-16T>A
|
|
|
NM_001035.3(RYR2):c.2719-18T>A
|
|
|
NM_001035.3(RYR2):c.2719-4T>G
|
rs397516523
|
|
NM_001035.3(RYR2):c.2733C>T (p.Asn911=)
|
rs1665914586
|
|
NM_001035.3(RYR2):c.2736G>A (p.Lys912=)
|
|
|
NM_001035.3(RYR2):c.274-13T>C
|
|
|
NM_001035.3(RYR2):c.274-17G>C
|
|
|
NM_001035.3(RYR2):c.274-5C>A
|
rs768394710
|
|
NM_001035.3(RYR2):c.274-5C>G
|
rs768394710
|
|
NM_001035.3(RYR2):c.2742A>G (p.Gln914=)
|
|
|
NM_001035.3(RYR2):c.2748A>G (p.Pro916=)
|
rs2147767600
|
|
NM_001035.3(RYR2):c.2770C>T (p.Leu924=)
|
rs754678409
|
|
NM_001035.3(RYR2):c.2772G>T (p.Leu924=)
|
rs780664060
|
|
NM_001035.3(RYR2):c.2781G>A (p.Gln927=)
|
|
|
NM_001035.3(RYR2):c.279T>A (p.Val93=)
|
rs1037732490
|
|
NM_001035.3(RYR2):c.27C>T (p.Asp9=)
|
|
|
NM_001035.3(RYR2):c.2808G>T (p.Ser936=)
|
rs1057521205
|
|
NM_001035.3(RYR2):c.2811T>A (p.Leu937=)
|
|
|
NM_001035.3(RYR2):c.2822+14C>G
|
|
|
NM_001035.3(RYR2):c.2822+19T>C
|
|
|
NM_001035.3(RYR2):c.2822+9C>T
|
rs2893574
|
|
NM_001035.3(RYR2):c.2823-19C>G
|
|
|
NM_001035.3(RYR2):c.2823-20T>C
|
|
|
NM_001035.3(RYR2):c.2823-4C>A
|
|
|
NM_001035.3(RYR2):c.2823-4C>T
|
|
|
NM_001035.3(RYR2):c.2832G>A (p.Leu944=)
|
rs2147939984
|
|
NM_001035.3(RYR2):c.2835A>C (p.Ala945=)
|
rs1362472908
|
|
NM_001035.3(RYR2):c.2841A>G (p.Gly947=)
|
|
|
NM_001035.3(RYR2):c.2868T>C (p.His956=)
|
|
|
NM_001035.3(RYR2):c.2871T>C (p.Ala957=)
|
rs771821687
|
|
NM_001035.3(RYR2):c.2886A>G (p.Lys962=)
|
rs2147940587
|
|
NM_001035.3(RYR2):c.2895G>A (p.Lys965=)
|
|
|
NM_001035.3(RYR2):c.2901C>G (p.Pro967=)
|
rs747234013
|
|
NM_001035.3(RYR2):c.2901C>T (p.Pro967=)
|
rs747234013
|
|
NM_001035.3(RYR2):c.2906+11T>A
|
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|
NM_001035.3(RYR2):c.2906+13A>C
|
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|
NM_001035.3(RYR2):c.2906+19C>A
|
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|
NM_001035.3(RYR2):c.2907-15G>A
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|
NM_001035.3(RYR2):c.294+12C>T
|
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|
NM_001035.3(RYR2):c.294+14T>C
|
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|
NM_001035.3(RYR2):c.294+8T>A
|
rs2149692036
|
|
NM_001035.3(RYR2):c.295-9C>A
|
|
|
NM_001035.3(RYR2):c.2958C>T (p.Ile986=)
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|
NM_001035.3(RYR2):c.2973A>C (p.Ser991=)
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|
NM_001035.3(RYR2):c.2973A>T (p.Ser991=)
|
rs2253273
|
|
NM_001035.3(RYR2):c.2982A>G (p.Ala994=)
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|
|
NM_001035.3(RYR2):c.3027G>A (p.Arg1009=)
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|
NM_001035.3(RYR2):c.3039G>A (p.Arg1013=)
|
rs1481647853
|
|
NM_001035.3(RYR2):c.3045C>T (p.Gly1015=)
|
rs1405734932
|
|
NM_001035.3(RYR2):c.3063A>G (p.Gln1021=)
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|
NM_001035.3(RYR2):c.3066+12T>A
|
rs772628091
|
|
NM_001035.3(RYR2):c.3066+13T>C
|
rs2148091810
|
|
NM_001035.3(RYR2):c.3066+15G>A
|
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|
NM_001035.3(RYR2):c.3067-12G>A
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|
NM_001035.3(RYR2):c.3067-17C>T
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|
NM_001035.3(RYR2):c.3067-20C>T
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|
NM_001035.3(RYR2):c.3067-4G>T
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|
NM_001035.3(RYR2):c.3067-7C>T
|
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|
NM_001035.3(RYR2):c.309+10C>T
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NM_001035.3(RYR2):c.309+18A>T
|
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|
NM_001035.3(RYR2):c.309+9_309+13del
|
rs779631412
|
|
NM_001035.3(RYR2):c.310-18T>C
|
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|
NM_001035.3(RYR2):c.3107C>G (p.Thr1036Ser)
|
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|
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)
|
rs773781713
|
|
NM_001035.3(RYR2):c.312T>C (p.Thr104=)
|
|
|
NM_001035.3(RYR2):c.3135C>G (p.Ser1045=)
|
rs759494684
|
|
NM_001035.3(RYR2):c.3156G>A (p.Glu1052=)
|
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|
NM_001035.3(RYR2):c.3177G>T (p.Gly1059=)
|
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|
NM_001035.3(RYR2):c.3214+14A>C
|
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|
NM_001035.3(RYR2):c.3214+19C>T
|
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|
NM_001035.3(RYR2):c.3214+20C>A
|
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NM_001035.3(RYR2):c.3214+9G>C
|
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|
NM_001035.3(RYR2):c.3214+9G>T
|
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|
NM_001035.3(RYR2):c.3215-11C>G
|
rs1340446563
|
|
NM_001035.3(RYR2):c.3215-13G>C
|
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|
NM_001035.3(RYR2):c.3215-14T>C
|
rs1672104473
|
|
NM_001035.3(RYR2):c.3215-15_3215-14del
|
|
|
NM_001035.3(RYR2):c.3215-5C>T
|
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|
NM_001035.3(RYR2):c.3215-9A>G
|
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|
NM_001035.3(RYR2):c.3219C>T (p.Ala1073=)
|
rs2148251416
|
|
NM_001035.3(RYR2):c.3246G>A (p.Gly1082=)
|
rs1672110603
|
|
NM_001035.3(RYR2):c.3248A>G (p.Glu1083Gly)
|
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|
NM_001035.3(RYR2):c.3261C>A (p.Ile1087=)
|
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|
NM_001035.3(RYR2):c.3267T>C (p.Arg1089=)
|
rs761738779
|
|
NM_001035.3(RYR2):c.3270C>A (p.Ala1090=)
|
rs1344074824
|
|
NM_001035.3(RYR2):c.3270C>T (p.Ala1090=)
|
rs1344074824
|
|
NM_001035.3(RYR2):c.3273G>A (p.Glu1091=)
|
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|
NM_001035.3(RYR2):c.3282T>C (p.Tyr1094=)
|
rs1572900604
|
|
NM_001035.3(RYR2):c.3287T>C (p.Val1096Ala)
|
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|
NM_001035.3(RYR2):c.3298C>A (p.Arg1100=)
|
rs1411654663
|
|
NM_001035.3(RYR2):c.3306T>C (p.Tyr1102=)
|
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|
NM_001035.3(RYR2):c.3321G>A (p.Thr1107=)
|
rs377716608
|
|
NM_001035.3(RYR2):c.3321G>C (p.Thr1107=)
|
rs377716608
|
|
NM_001035.3(RYR2):c.3324C>T (p.Val1108=)
|
|
|
NM_001035.3(RYR2):c.3348T>C (p.Gly1116=)
|
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|
NM_001035.3(RYR2):c.3360T>C (p.Pro1120=)
|
rs2148252894
|
|
NM_001035.3(RYR2):c.3361G>A (p.Gly1121Ser)
|
|
|
NM_001035.3(RYR2):c.3366T>C (p.Cys1122=)
|
rs2148252969
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
NM_001035.3(RYR2):c.3394G>C (p.Glu1132Gln)
|
|
|
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)
|
rs374397612
|
|
NM_001035.3(RYR2):c.3402C>T (p.Ala1134=)
|
|
|
NM_001035.3(RYR2):c.3423+16C>T
|
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|
NM_001035.3(RYR2):c.3423+8G>T
|
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|
NM_001035.3(RYR2):c.3424-19T>A
|
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|
NM_001035.3(RYR2):c.3424-5T>C
|
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|
NM_001035.3(RYR2):c.3424-6G>C
|
rs1672398208
|
|
NM_001035.3(RYR2):c.3424-7dup
|
|
|
NM_001035.3(RYR2):c.3424-9T>A
|
|
|
NM_001035.3(RYR2):c.3432G>A (p.Arg1144=)
|
rs764547857
|
|
NM_001035.3(RYR2):c.3459G>A (p.Gly1153=)
|
|
|
NM_001035.3(RYR2):c.3459G>T (p.Gly1153=)
|
|
|
NM_001035.3(RYR2):c.3462C>T (p.Arg1154=)
|
|
|
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)
|
rs780861754
|
|
NM_001035.3(RYR2):c.3486G>A (p.Val1162=)
|
rs749237298
|
|
NM_001035.3(RYR2):c.3521T>G (p.Met1174Arg)
|
|
|
NM_001035.3(RYR2):c.3529C>T (p.Leu1177=)
|
rs1386427245
|
|
NM_001035.3(RYR2):c.3546T>C (p.Leu1182=)
|
|
|
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=)
|
rs368959706
|
|
NM_001035.3(RYR2):c.3568C>T (p.Leu1190=)
|
|
|
NM_001035.3(RYR2):c.3585T>C (p.Phe1195=)
|
|
|
NM_001035.3(RYR2):c.3594C>A (p.Gly1198=)
|
|
|
NM_001035.3(RYR2):c.3598+10C>G
|
|
|
NM_001035.3(RYR2):c.3598+10_3598+12del
|
rs757703672
|
|
NM_001035.3(RYR2):c.3598+11T>C
|
|
|
NM_001035.3(RYR2):c.3598+13T>G
|
|
|
NM_001035.3(RYR2):c.3598+15T>G
|
rs2148276559
|
|
NM_001035.3(RYR2):c.3598+7C>T
|
rs1197179687
|
|
NM_001035.3(RYR2):c.3599-14T>C
|
|
|
NM_001035.3(RYR2):c.3599-16T>G
|
rs966962775
|
|
NM_001035.3(RYR2):c.3599-20G>T
|
|
|
NM_001035.3(RYR2):c.3600A>T (p.Gly1200=)
|
rs2148430388
|
|
NM_001035.3(RYR2):c.3651T>C (p.Phe1217=)
|
|
|
NM_001035.3(RYR2):c.3681C>T (p.Phe1227=)
|
rs2148430827
|
|
NM_001035.3(RYR2):c.3693C>T (p.Gly1231=)
|
|
|
NM_001035.3(RYR2):c.36G>A (p.Gln12=)
|
|
|
NM_001035.3(RYR2):c.3708T>C (p.Tyr1236=)
|
|
|
NM_001035.3(RYR2):c.3711A>G (p.Glu1237=)
|
|
|
NM_001035.3(RYR2):c.3726T>C (p.Asn1242=)
|
|
|
NM_001035.3(RYR2):c.3732C>T (p.Asn1244=)
|
rs1327517169
|
|
NM_001035.3(RYR2):c.375T>C (p.Tyr125=)
|
rs397516528
|
|
NM_001035.3(RYR2):c.3762G>A (p.Arg1254=)
|
|
|
NM_001035.3(RYR2):c.3768T>A (p.Pro1256=)
|
|
|
NM_001035.3(RYR2):c.3771G>A (p.Gln1257=)
|
|
|
NM_001035.3(RYR2):c.3795T>C (p.His1265=)
|
rs2148431580
|
|
NM_001035.3(RYR2):c.3807+19A>T
|
|
|
NM_001035.3(RYR2):c.3808-10C>G
|
|
|
NM_001035.3(RYR2):c.3808-15T>C
|
|
|
NM_001035.3(RYR2):c.3808-16C>A
|
|
|
NM_001035.3(RYR2):c.3808-16C>T
|
|
|
NM_001035.3(RYR2):c.3808-4C>T
|
rs1675049564
|
|
NM_001035.3(RYR2):c.3808-5G>C
|
rs776405427
|
|
NM_001035.3(RYR2):c.381C>T (p.Gly127=)
|
|
|
NM_001035.3(RYR2):c.3834C>T (p.Asp1278=)
|
rs1553514916
|
|
NM_001035.3(RYR2):c.384+14T>C
|
|
|
NM_001035.3(RYR2):c.384+17T>G
|
|
|
NM_001035.3(RYR2):c.384+19T>C
|
|
|
NM_001035.3(RYR2):c.384+9G>T
|
|
|
NM_001035.3(RYR2):c.3840C>A (p.Ser1280=)
|
rs752970338
|
|
NM_001035.3(RYR2):c.3840C>T (p.Ser1280=)
|
|
|
NM_001035.3(RYR2):c.385-17G>C
|
|
|
NM_001035.3(RYR2):c.385-18T>G
|
|
|
NM_001035.3(RYR2):c.385-20A>T
|
rs2149782305
|
|
NM_001035.3(RYR2):c.385-8C>T
|
rs529230897
|
|
NM_001035.3(RYR2):c.3855C>G (p.Val1285=)
|
|
|
NM_001035.3(RYR2):c.3858T>C (p.Thr1286=)
|
|
|
NM_001035.3(RYR2):c.3864G>A (p.Lys1288=)
|
|
|
NM_001035.3(RYR2):c.3894T>C (p.Asp1298=)
|
|
|
NM_001035.3(RYR2):c.3906T>C (p.Tyr1302=)
|
|
|
NM_001035.3(RYR2):c.390G>C (p.Leu130=)
|
|
|
NM_001035.3(RYR2):c.3966C>G (p.Leu1322=)
|
rs1235181059
|
|
NM_001035.3(RYR2):c.3975T>C (p.Ala1325=)
|
|
|
NM_001035.3(RYR2):c.3978C>T (p.Gly1326=)
|
rs745839967
|
|
NM_001035.3(RYR2):c.39C>T (p.Phe13=)
|
|
|
NM_001035.3(RYR2):c.4035T>G (p.Val1345=)
|
|
|
NM_001035.3(RYR2):c.4053T>C (p.His1351=)
|
|
|
NM_001035.3(RYR2):c.4059T>C (p.His1353=)
|
|
|
NM_001035.3(RYR2):c.405C>A (p.Thr135=)
|
rs1214302342
|
|
NM_001035.3(RYR2):c.4068C>A (p.Pro1356=)
|
rs199821105
|
|
NM_001035.3(RYR2):c.4068C>G (p.Pro1356=)
|
|
|
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)
|
rs193922626
|
|
NM_001035.3(RYR2):c.4089A>G (p.Lys1363=)
|
|
|
NM_001035.3(RYR2):c.408C>T (p.Ser136=)
|
rs1553425562
|
|
NM_001035.3(RYR2):c.4095T>C (p.Ala1365=)
|
|
|
NM_001035.3(RYR2):c.4146T>C (p.Ser1382=)
|
|
|
NM_001035.3(RYR2):c.4150C>T (p.Leu1384=)
|
|
|
NM_001035.3(RYR2):c.4160+10T>C
|
rs397516530
|
|
NM_001035.3(RYR2):c.4160+15C>G
|
|
|
NM_001035.3(RYR2):c.4160+16G>C
|
|
|
NM_001035.3(RYR2):c.4161-18T>C
|
|
|
NM_001035.3(RYR2):c.4161-18T>G
|
|
|
NM_001035.3(RYR2):c.4161A>G (p.Arg1387=)
|
rs1573004917
|
|
NM_001035.3(RYR2):c.4171A>C (p.Arg1391=)
|
rs371561223
|
|
NM_001035.3(RYR2):c.4176A>G (p.Arg1392=)
|
rs2148445989
|
|
NM_001035.3(RYR2):c.4200C>T (p.Ser1400=)
|
|
|
NM_001035.3(RYR2):c.4205C>A (p.Ser1402Tyr)
|
|
|
NM_001035.3(RYR2):c.420T>C (p.Thr140=)
|
rs2149782582
|
|
NM_001035.3(RYR2):c.4218C>A (p.Thr1406=)
|
rs368817788
|
|
NM_001035.3(RYR2):c.4218C>T (p.Thr1406=)
|
rs368817788
|
|
NM_001035.3(RYR2):c.4224T>C (p.Asp1408=)
|
rs1265244815
|
|
NM_001035.3(RYR2):c.4227C>T (p.Val1409=)
|
|
|
NM_001035.3(RYR2):c.4242G>A (p.Arg1414=)
|
rs371748225
|
|
NM_001035.3(RYR2):c.4269G>A (p.Thr1423=)
|
rs1342902406
|
|
NM_001035.3(RYR2):c.4275+7G>A
|
rs1573005697
|
|
NM_001035.3(RYR2):c.4275+8G>C
|
rs1573005723
|
|
NM_001035.3(RYR2):c.4276-13G>A
|
|
|
NM_001035.3(RYR2):c.4276-15C>G
|
|
|
NM_001035.3(RYR2):c.4276-17T>G
|
|
|
NM_001035.3(RYR2):c.4276-18G>A
|
|
|
NM_001035.3(RYR2):c.4276-9T>C
|
rs1559081633
|
|
NM_001035.3(RYR2):c.427C>T (p.Leu143=)
|
|
|
NM_001035.3(RYR2):c.4302T>A (p.Pro1434=)
|
rs764119072
|
|
NM_001035.3(RYR2):c.4320T>C (p.Asn1440=)
|
rs1675468093
|
|
NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)
|
|
|
NM_001035.3(RYR2):c.4323C>T (p.Val1441=)
|
|
|
NM_001035.3(RYR2):c.4332C>T (p.Gly1444=)
|
|
|
NM_001035.3(RYR2):c.4368C>G (p.Gly1456=)
|
rs1057522920
|
|
NM_001035.3(RYR2):c.4374C>T (p.Asp1458=)
|
rs1163174459
|
|
NM_001035.3(RYR2):c.4375T>C (p.Leu1459=)
|
|
|
NM_001035.3(RYR2):c.4388G>A (p.Arg1463His)
|
rs753707154
|
|
NM_001035.3(RYR2):c.4393G>A (p.Val1465Ile)
|
|
|
NM_001035.3(RYR2):c.43C>A (p.Arg15=)
|
|
|
NM_001035.3(RYR2):c.4413T>C (p.Asp1471=)
|
|
|
NM_001035.3(RYR2):c.441T>G (p.Val147=)
|
|
|
NM_001035.3(RYR2):c.4422A>G (p.Gly1474=)
|
|
|
NM_001035.3(RYR2):c.4431T>C (p.His1477=)
|
|
|
NM_001035.3(RYR2):c.4436+10C>G
|
|
|
NM_001035.3(RYR2):c.4436+11C>T
|
|
|
NM_001035.3(RYR2):c.4436+12T>A
|
|
|
NM_001035.3(RYR2):c.4436+15A>C
|
|
|
NM_001035.3(RYR2):c.4436+15A>T
|
|
|
NM_001035.3(RYR2):c.4436+16T>C
|
rs1675484367
|
|
NM_001035.3(RYR2):c.444C>T (p.Gly148=)
|
rs1572035408
|
|
NM_001035.3(RYR2):c.4467T>C (p.Cys1489=)
|
|
|
NM_001035.3(RYR2):c.4473T>G (p.Gly1491=)
|
|
|
NM_001035.3(RYR2):c.4476G>A (p.Glu1492=)
|
|
|
NM_001035.3(RYR2):c.4476G>C (p.Glu1492Asp)
|
|
|
NM_001035.3(RYR2):c.4485C>T (p.Ser1495=)
|
|
|
NM_001035.3(RYR2):c.4491G>T (p.Gly1497=)
|
rs2148474772
|
|
NM_001035.3(RYR2):c.4497A>T (p.Gly1499=)
|
rs1573023606
|
|
NM_001035.3(RYR2):c.4518G>A (p.Glu1506=)
|
rs775280276
|
|
NM_001035.3(RYR2):c.4545C>T (p.Ser1515=)
|
rs768227781
|
|
NM_001035.3(RYR2):c.4548G>A (p.Gly1516=)
|
rs1675807561
|
|
NM_001035.3(RYR2):c.4549C>T (p.Leu1517=)
|
|
|
NM_001035.3(RYR2):c.4566C>T (p.Ala1522=)
|
|
|
NM_001035.3(RYR2):c.4569T>C (p.Asn1523=)
|
|
|
NM_001035.3(RYR2):c.4596+10C>T
|
|
|
NM_001035.3(RYR2):c.4596+18A>G
|
|
|
NM_001035.3(RYR2):c.4596+7G>T
|
|
|
NM_001035.3(RYR2):c.4596+8G>A
|
|
|
NM_001035.3(RYR2):c.4597-7A>G
|
|
|
NM_001035.3(RYR2):c.4597-8dup
|
|
|
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
|
|
|
NM_001035.3(RYR2):c.4611A>G (p.Thr1537=)
|
rs1285176357
|
|
NM_001035.3(RYR2):c.4623T>C (p.Pro1541=)
|
rs2148510937
|
|
NM_001035.3(RYR2):c.463+13T>G
|
|
|
NM_001035.3(RYR2):c.463+19G>A
|
|
|
NM_001035.3(RYR2):c.464-10A>G
|
rs1257588740
|
|
NM_001035.3(RYR2):c.464-12G>T
|
rs766779504
|
|
NM_001035.3(RYR2):c.464-6C>T
|
|
|
NM_001035.3(RYR2):c.464-9_464-8delinsCC
|
rs1572045142
|
|
NM_001035.3(RYR2):c.4641T>C (p.Ala1547=)
|
|
|
NM_001035.3(RYR2):c.4644A>G (p.Thr1548=)
|
rs865947296
|
|
NM_001035.3(RYR2):c.4659C>T (p.Phe1553=)
|
rs767900430
|
|
NM_001035.3(RYR2):c.4662G>A (p.Gln1554=)
|
rs2148511200
|
|
NM_001035.3(RYR2):c.4669T>C (p.Leu1557=)
|
rs947233100
|
|
NM_001035.3(RYR2):c.4674A>T (p.Gly1558=)
|
|
|
NM_001035.3(RYR2):c.4683+12T>C
|
|
|
NM_001035.3(RYR2):c.4683+16C>G
|
|
|
NM_001035.3(RYR2):c.4683+20G>T
|
|
|
NM_001035.3(RYR2):c.4683+7A>C
|
|
|
NM_001035.3(RYR2):c.4683+8A>C
|
|
|
NM_001035.3(RYR2):c.4683+8A>G
|
|
|
NM_001035.3(RYR2):c.4684-16C>G
|
|
|
NM_001035.3(RYR2):c.4684-17G>A
|
|
|
NM_001035.3(RYR2):c.4684-5G>A
|
rs7522981
|
|
NM_001035.3(RYR2):c.4684-5G>T
|
rs7522981
|
|
NM_001035.3(RYR2):c.4684-9A>C
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
NM_001035.3(RYR2):c.4728G>A (p.Lys1576=)
|
rs2148572687
|
|
NM_001035.3(RYR2):c.4731C>T (p.Asn1577=)
|
rs1677763044
|
|
NM_001035.3(RYR2):c.4733C>T (p.Pro1578Leu)
|
|
|
NM_001035.3(RYR2):c.4734C>A (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.4734C>G (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.4740G>T (p.Pro1580=)
|
rs79811945
|
|
NM_001035.3(RYR2):c.4746C>T (p.Cys1582=)
|
|
|
NM_001035.3(RYR2):c.4749C>T (p.Pro1583=)
|
rs914743349
|
|
NM_001035.3(RYR2):c.474T>C (p.Cys158=)
|
|
|
NM_001035.3(RYR2):c.4755C>G (p.Arg1585=)
|
|
|
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=)
|
rs397516536
|
|
NM_001035.3(RYR2):c.4771C>T (p.Leu1591=)
|
|
|
NM_001035.3(RYR2):c.4773G>A (p.Leu1591=)
|
|
|
NM_001035.3(RYR2):c.4783C>T (p.Leu1595=)
|
|
|
NM_001035.3(RYR2):c.48+13C>T
|
rs1353592562
|
|
NM_001035.3(RYR2):c.48+15T>C
|
|
|
NM_001035.3(RYR2):c.48+19G>T
|
|
|
NM_001035.3(RYR2):c.48+7G>T
|
rs886567477
|
|
NM_001035.3(RYR2):c.4818A>G (p.Val1606=)
|
rs1559110553
|
|
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=)
|
rs868510940
|
|
NM_001035.3(RYR2):c.483C>G (p.Thr161=)
|
|
|
NM_001035.3(RYR2):c.49-10C>G
|
|
|
NM_001035.3(RYR2):c.49-11C>T
|
rs2149346688
|
|
NM_001035.3(RYR2):c.49-12C>T
|
|
|
NM_001035.3(RYR2):c.49-14C>G
|
|
|
NM_001035.3(RYR2):c.49-15T>C
|
|
|
NM_001035.3(RYR2):c.49-16_49-13del
|
|
|
NM_001035.3(RYR2):c.49-17T>C
|
|
|
NM_001035.3(RYR2):c.49-20C>T
|
|
|
NM_001035.3(RYR2):c.49-4G>A
|
rs750038523
|
|
NM_001035.3(RYR2):c.49-6T>C
|
rs2149346729
|
|
NM_001035.3(RYR2):c.49-9C>G
|
rs1057522958
|
|
NM_001035.3(RYR2):c.4902G>A (p.Glu1634=)
|
rs767794262
|
|
NM_001035.3(RYR2):c.4910+10A>G
|
|
|
NM_001035.3(RYR2):c.4910+11G>T
|
|
|
NM_001035.3(RYR2):c.4910+12T>C
|
|
|
NM_001035.3(RYR2):c.4910+9C>T
|
rs2148574631
|
|
NM_001035.3(RYR2):c.4911-10C>T
|
rs762641238
|
|
NM_001035.3(RYR2):c.4911-14C>T
|
|
|
NM_001035.3(RYR2):c.4911-16C>A
|
|
|
NM_001035.3(RYR2):c.4911-18C>T
|
|
|
NM_001035.3(RYR2):c.4911-19_4911-18insT
|
|
|
NM_001035.3(RYR2):c.4911-20C>T
|
|
|
NM_001035.3(RYR2):c.4911-4A>G
|
|
|
NM_001035.3(RYR2):c.4911-8T>C
|
rs1678192688
|
|
NM_001035.3(RYR2):c.4911-8T>G
|
|
|
NM_001035.3(RYR2):c.4914T>C (p.Ser1638=)
|
rs2148593032
|
|
NM_001035.3(RYR2):c.4914T>G (p.Ser1638=)
|
|
|
NM_001035.3(RYR2):c.4923C>A (p.Ile1641=)
|
|
|
NM_001035.3(RYR2):c.4929G>A (p.Glu1643=)
|
rs1573122061
|
|
NM_001035.3(RYR2):c.4974C>T (p.Leu1658=)
|
rs2148593486
|
|
NM_001035.3(RYR2):c.4980C>A (p.Leu1660=)
|
|
|
NM_001035.3(RYR2):c.4989C>A (p.Ala1663=)
|
rs147060179
|
|
NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)
|
rs749434532
|
|
NM_001035.3(RYR2):c.5011C>A (p.Arg1671=)
|
|
|
NM_001035.3(RYR2):c.5013G>T (p.Arg1671=)
|
|
|
NM_001035.3(RYR2):c.5025C>A (p.Ala1675=)
|
|
|
NM_001035.3(RYR2):c.5037T>C (p.His1679=)
|
rs2148593927
|
|
NM_001035.3(RYR2):c.5070G>A (p.Glu1690=)
|
rs1435941641
|
|
NM_001035.3(RYR2):c.5103C>G (p.Gly1701=)
|
|
|
NM_001035.3(RYR2):c.510A>C (p.Ser170=)
|
rs1057523213
|
|
NM_001035.3(RYR2):c.5112C>T (p.Asp1704=)
|
|
|
NM_001035.3(RYR2):c.5148T>C (p.Thr1716=)
|
|
|
NM_001035.3(RYR2):c.516A>T (p.Gly172=)
|
|
|
NM_001035.3(RYR2):c.5172G>A (p.Glu1724=)
|
|
|
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=)
|
rs397516541
|
|
NM_001035.3(RYR2):c.5190G>T (p.Thr1730=)
|
rs397516541
|
|
NM_001035.3(RYR2):c.5193G>A (p.Glu1731=)
|
rs2148594968
|
|
NM_001035.3(RYR2):c.5199G>C (p.Thr1733=)
|
|
|
NM_001035.3(RYR2):c.5208C>A (p.Ile1736=)
|
rs1678226437
|
|
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)
|
rs886046269
|
|
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)
|
rs533362755
|
|
NM_001035.3(RYR2):c.5241C>T (p.Gly1747=)
|
|
|
NM_001035.3(RYR2):c.5256C>T (p.Gly1752=)
|
rs1350989279
|
|
NM_001035.3(RYR2):c.5259C>T (p.Leu1753=)
|
rs775185381
|
|
NM_001035.3(RYR2):c.525A>G (p.Val175=)
|
|
|
NM_001035.3(RYR2):c.5285A>G (p.Gln1762Arg)
|
|
|
NM_001035.3(RYR2):c.5292C>T (p.Ser1764=)
|
|
|
NM_001035.3(RYR2):c.5295C>T (p.Ser1765=)
|
|
|
NM_001035.3(RYR2):c.5298C>G (p.Pro1766=)
|
|
|
NM_001035.3(RYR2):c.5301T>C (p.Ser1767=)
|
|
|
NM_001035.3(RYR2):c.5334C>T (p.Tyr1778=)
|
rs756648811
|
|
NM_001035.3(RYR2):c.5340A>G (p.Pro1780=)
|
rs749662039
|
|
NM_001035.3(RYR2):c.5361C>A (p.Leu1787=)
|
|
|
NM_001035.3(RYR2):c.5406C>G (p.Gly1802=)
|
|
|
NM_001035.3(RYR2):c.5415T>C (p.His1805=)
|
rs2148596471
|
|
NM_001035.3(RYR2):c.5418C>G (p.Ala1806=)
|
|
|
NM_001035.3(RYR2):c.5419C>A (p.Arg1807=)
|
|
|
NM_001035.3(RYR2):c.543C>T (p.Leu181=)
|
rs2149792951
|
|
NM_001035.3(RYR2):c.5451C>G (p.Leu1817=)
|
|
|
NM_001035.3(RYR2):c.5469G>A (p.Lys1823=)
|
|
|
NM_001035.3(RYR2):c.5475C>T (p.Phe1825=)
|
|
|
NM_001035.3(RYR2):c.5485C>T (p.Leu1829=)
|
|
|
NM_001035.3(RYR2):c.5487G>A (p.Leu1829=)
|
rs371250741
|
|
NM_001035.3(RYR2):c.5580G>A (p.Glu1860=)
|
|
|
NM_001035.3(RYR2):c.5589G>A (p.Thr1863=)
|
rs778971089
|
|
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=)
|
rs765786213
|
|
NM_001035.3(RYR2):c.5640G>A (p.Glu1880=)
|
|
|
NM_001035.3(RYR2):c.5658C>A (p.Gly1886=)
|
rs745731983
|
|
NM_001035.3(RYR2):c.5662C>A (p.Arg1888=)
|
|
|
NM_001035.3(RYR2):c.5670G>A (p.Lys1890=)
|
rs779847743
|
|
NM_001035.3(RYR2):c.5685A>G (p.Gln1895=)
|
|
|
NM_001035.3(RYR2):c.5692C>T (p.Leu1898=)
|
|
|
NM_001035.3(RYR2):c.5703A>G (p.Pro1901=)
|
rs1573127804
|
|
NM_001035.3(RYR2):c.570G>A (p.Arg190=)
|
|
|
NM_001035.3(RYR2):c.5715+10A>G
|
|
|
NM_001035.3(RYR2):c.5715+11C>G
|
|
|
NM_001035.3(RYR2):c.5716-12A>T
|
|
|
NM_001035.3(RYR2):c.5716-18T>C
|
|
|
NM_001035.3(RYR2):c.5716-5C>G
|
|
|
NM_001035.3(RYR2):c.5716-6T>C
|
|
|
NM_001035.3(RYR2):c.5716-9G>A
|
|
|
NM_001035.3(RYR2):c.5721C>T (p.Cys1907=)
|
rs769877200
|
|
NM_001035.3(RYR2):c.5730T>A (p.Leu1910=)
|
|
|
NM_001035.3(RYR2):c.5733G>A (p.Gln1911=)
|
|
|
NM_001035.3(RYR2):c.576+18del
|
|
|
NM_001035.3(RYR2):c.576+9G>C
|
|
|
NM_001035.3(RYR2):c.577-14del
|
|
|
NM_001035.3(RYR2):c.577-5T>C
|
rs1237631846
|
|
NM_001035.3(RYR2):c.5781C>T (p.Ala1927=)
|
rs2148613866
|
|
NM_001035.3(RYR2):c.57A>G (p.Glu19=)
|
|
|
NM_001035.3(RYR2):c.5814C>T (p.Asp1938=)
|
|
|
NM_001035.3(RYR2):c.5838A>G (p.Glu1946=)
|
rs1485391345
|
|
NM_001035.3(RYR2):c.5841C>T (p.Val1947=)
|
rs1487785475
|
|
NM_001035.3(RYR2):c.5877C>T (p.Ala1959=)
|
|
|
NM_001035.3(RYR2):c.5880G>A (p.Arg1960=)
|
|
|
NM_001035.3(RYR2):c.5898A>G (p.Arg1966=)
|
|
|
NM_001035.3(RYR2):c.5901A>C (p.Ser1967=)
|
rs1553524372
|
|
NM_001035.3(RYR2):c.5917-12T>C
|
rs746414195
|
|
NM_001035.3(RYR2):c.591C>A (p.Gly197=)
|
rs1572092032
|
|
NM_001035.3(RYR2):c.5922T>C (p.Asn1974=)
|
rs747433387
|
|
NM_001035.3(RYR2):c.5964T>C (p.Cys1988=)
|
|
|
NM_001035.3(RYR2):c.5989T>C (p.Leu1997=)
|
|
|
NM_001035.3(RYR2):c.6000T>C (p.His2000=)
|
|
|
NM_001035.3(RYR2):c.6000T>G (p.His2000Gln)
|
|
|
NM_001035.3(RYR2):c.600C>T (p.Ser200=)
|
rs754084775
|
|
NM_001035.3(RYR2):c.6018T>C (p.His2006=)
|
rs757380341
|
|
NM_001035.3(RYR2):c.6022+14G>A
|
rs1370132495
|
|
NM_001035.3(RYR2):c.6022+14G>T
|
|
|
NM_001035.3(RYR2):c.6022+15A>T
|
|
|
NM_001035.3(RYR2):c.6023-14T>G
|
|
|
NM_001035.3(RYR2):c.6023-19C>G
|
|
|
NM_001035.3(RYR2):c.6023-8T>A
|
rs770641716
|
|
NM_001035.3(RYR2):c.6056G>A (p.Gly2019Glu)
|
|
|
NM_001035.3(RYR2):c.6081G>T (p.Gly2027=)
|
|
|
NM_001035.3(RYR2):c.6082C>T (p.Arg2028Cys)
|
|
|
NM_001035.3(RYR2):c.6090A>C (p.Leu2030=)
|
|
|
NM_001035.3(RYR2):c.6090A>T (p.Leu2030=)
|
|
|
NM_001035.3(RYR2):c.6092C>T (p.Ser2031Phe)
|
|
|
NM_001035.3(RYR2):c.6114T>C (p.Tyr2038=)
|
rs1451202406
|
|
NM_001035.3(RYR2):c.6117G>A (p.Leu2039=)
|
|
|
NM_001035.3(RYR2):c.6126G>A (p.Lys2042=)
|
rs1433457033
|
|
NM_001035.3(RYR2):c.6141A>C (p.Pro2047=)
|
|
|
NM_001035.3(RYR2):c.6141A>G (p.Pro2047=)
|
rs2148657967
|
|
NM_001035.3(RYR2):c.6150T>C (p.Ser2050=)
|
rs371310419
|
|
NM_001035.3(RYR2):c.6150T>G (p.Ser2050Arg)
|
rs371310419
|
|
NM_001035.3(RYR2):c.6166+13A>G
|
|
|
NM_001035.3(RYR2):c.6166+16G>A
|
|
|
NM_001035.3(RYR2):c.6166+17T>C
|
|
|
NM_001035.3(RYR2):c.6166+18G>A
|
|
|
NM_001035.3(RYR2):c.6167-13A>G
|
|
|
NM_001035.3(RYR2):c.6167-16C>T
|
|
|
NM_001035.3(RYR2):c.6167-7T>C
|
rs1679840771
|
|
NM_001035.3(RYR2):c.6171T>G (p.Thr2057=)
|
rs2148666530
|
|
NM_001035.3(RYR2):c.6195C>T (p.Thr2065=)
|
rs1244724940
|
|
NM_001035.3(RYR2):c.6249C>T (p.Ala2083=)
|
rs2148666906
|
|
NM_001035.3(RYR2):c.6273G>A (p.Gln2091=)
|
|
|
NM_001035.3(RYR2):c.630T>A (p.Thr210=)
|
|
|
NM_001035.3(RYR2):c.6318C>T (p.Tyr2106=)
|
rs2148667270
|
|
NM_001035.3(RYR2):c.6327T>C (p.Asn2109=)
|
|
|
NM_001035.3(RYR2):c.6348C>A (p.Thr2116=)
|
|
|
NM_001035.3(RYR2):c.6369T>C (p.Leu2123=)
|
rs1200040510
|
|
NM_001035.3(RYR2):c.6381G>T (p.Arg2127=)
|
|
|
NM_001035.3(RYR2):c.6390G>T (p.Leu2130=)
|
|
|
NM_001035.3(RYR2):c.6420G>A (p.Lys2140=)
|
rs2148667663
|
|
NM_001035.3(RYR2):c.6429T>A (p.Ile2143=)
|
rs2148667697
|
|
NM_001035.3(RYR2):c.6435A>T (p.Gly2145=)
|
rs1388675043
|
|
NM_001035.3(RYR2):c.6440+17C>A
|
|
|
NM_001035.3(RYR2):c.6441-16C>A
|
|
|
NM_001035.3(RYR2):c.6441-18G>A
|
rs772385198
|
|
NM_001035.3(RYR2):c.6441-18G>T
|
|
|
NM_001035.3(RYR2):c.6441-9C>G
|
rs777133390
|
|
NM_001035.3(RYR2):c.6441-9C>T
|
|
|
NM_001035.3(RYR2):c.6483C>T (p.Leu2161=)
|
|
|
NM_001035.3(RYR2):c.6510T>C (p.Thr2170=)
|
rs901453964
|
|
NM_001035.3(RYR2):c.6513G>A (p.Val2171=)
|
|
|
NM_001035.3(RYR2):c.6519G>A (p.Glu2173=)
|
|
|
NM_001035.3(RYR2):c.6531C>T (p.Asn2177=)
|
|
|
NM_001035.3(RYR2):c.6555+10_6555+11del
|
|
|
NM_001035.3(RYR2):c.6555+19dup
|
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
NM_001035.3(RYR2):c.6556-11T>C
|
rs372925188
|
|
NM_001035.3(RYR2):c.6556-16C>T
|
rs1160418526
|
|
NM_001035.3(RYR2):c.6556-9T>C
|
|
|
NM_001035.3(RYR2):c.6600C>G (p.Leu2200=)
|
|
|
NM_001035.3(RYR2):c.6615T>A (p.Arg2205=)
|
|
|
NM_001035.3(RYR2):c.6615T>C (p.Arg2205=)
|
|
|
NM_001035.3(RYR2):c.6639T>A (p.Ala2213=)
|
rs2148700970
|
|
NM_001035.3(RYR2):c.663T>C (p.Ser221=)
|
|
|
NM_001035.3(RYR2):c.6661T>C (p.Leu2221=)
|
|
|
NM_001035.3(RYR2):c.6664C>T (p.Leu2222=)
|
|
|
NM_001035.3(RYR2):c.6688+13C>T
|
|
|
NM_001035.3(RYR2):c.6689-15C>T
|
|
|
NM_001035.3(RYR2):c.6689-16T>A
|
|
|
NM_001035.3(RYR2):c.6689-18C>T
|
|
|
NM_001035.3(RYR2):c.6690C>G (p.Ala2230=)
|
rs1558107135
|
|
NM_001035.3(RYR2):c.6693C>G (p.Ser2231=)
|
rs1426565026
|
|
NM_001035.3(RYR2):c.6693C>T (p.Ser2231=)
|
rs1426565026
|
|
NM_001035.3(RYR2):c.6705A>G (p.Arg2235=)
|
|
|
NM_001035.3(RYR2):c.6711A>G (p.Ser2237=)
|
|
|
NM_001035.3(RYR2):c.6717A>G (p.Pro2239=)
|
rs1288613413
|
|
NM_001035.3(RYR2):c.672C>A (p.Ala224=)
|
rs1572092448
|
|
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=)
|
rs368207198
|
|
NM_001035.3(RYR2):c.676+12A>C
|
rs760974801
|
|
NM_001035.3(RYR2):c.676+17A>C
|
|
|
NM_001035.3(RYR2):c.6762A>G (p.Ala2254=)
|
rs1043486693
|
|
NM_001035.3(RYR2):c.6768T>C (p.Ala2256=)
|
|
|
NM_001035.3(RYR2):c.677-11T>C
|
rs10754602
|
|
NM_001035.3(RYR2):c.677-16T>C
|
|
|
NM_001035.3(RYR2):c.677-18G>A
|
|
|
NM_001035.3(RYR2):c.677-7C>G
|
rs747407654
|
|
NM_001035.3(RYR2):c.6780G>C (p.Pro2260=)
|
rs758855412
|
|
NM_001035.3(RYR2):c.6792+14C>T
|
|
|
NM_001035.3(RYR2):c.6792+16G>T
|
|
|
NM_001035.3(RYR2):c.6792+17C>A
|
|
|
NM_001035.3(RYR2):c.6792+18C>T
|
rs1350816716
|
|
NM_001035.3(RYR2):c.6793-11G>A
|
|
|
NM_001035.3(RYR2):c.6795A>G (p.Val2265=)
|
|
|
NM_001035.3(RYR2):c.682C>G (p.Leu228Val)
|
|
|
NM_001035.3(RYR2):c.6831C>T (p.Cys2277=)
|
|
|
NM_001035.3(RYR2):c.6858A>G (p.Pro2286=)
|
rs2148724106
|
|
NM_001035.3(RYR2):c.6867G>A (p.Gly2289=)
|
rs778358338
|
|
NM_001035.3(RYR2):c.6906T>G (p.Leu2302=)
|
|
|
NM_001035.3(RYR2):c.6906_6907delinsCC (p.Leu2302_Arg2303=)
|
rs2148724444
|
|
NM_001035.3(RYR2):c.6915T>A (p.Ala2305=)
|
|
|
NM_001035.3(RYR2):c.6928+15C>A
|
|
|
NM_001035.3(RYR2):c.6928+15C>T
|
|
|
NM_001035.3(RYR2):c.6928+16T>C
|
|
|
NM_001035.3(RYR2):c.6928+17T>C
|
|
|
NM_001035.3(RYR2):c.6928+8T>C
|
rs2148724639
|
|
NM_001035.3(RYR2):c.6929-16C>T
|
rs2148727288
|
|
NM_001035.3(RYR2):c.6929-20T>C
|
|
|
NM_001035.3(RYR2):c.6929-6C>T
|
|
|
NM_001035.3(RYR2):c.6929-8T>G
|
rs1405186238
|
|
NM_001035.3(RYR2):c.6930G>C (p.Gly2310=)
|
|
|
NM_001035.3(RYR2):c.693T>C (p.Gly231=)
|
|
|
NM_001035.3(RYR2):c.6951A>G (p.Ala2317=)
|
|
|
NM_001035.3(RYR2):c.6954T>C (p.Asn2318=)
|
|
|
NM_001035.3(RYR2):c.6963G>A (p.Val2321=)
|
rs2148727676
|
|
NM_001035.3(RYR2):c.6972C>T (p.Leu2324=)
|
rs770197614
|
|
NM_001035.3(RYR2):c.6C>A (p.Ala2=)
|
rs1019441723
|
|
NM_001035.3(RYR2):c.6C>G (p.Ala2=)
|
rs1019441723
|
|
NM_001035.3(RYR2):c.7011A>G (p.Gly2337=)
|
|
|
NM_001035.3(RYR2):c.7020G>A (p.Gly2340=)
|
rs767884614
|
|
NM_001035.3(RYR2):c.7023T>C (p.Asn2341=)
|
|
|
NM_001035.3(RYR2):c.702C>T (p.Leu234=)
|
rs2149847517
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
NM_001035.3(RYR2):c.7050C>T (p.Ala2350=)
|
rs1573272712
|
|
NM_001035.3(RYR2):c.7059C>T (p.Ile2353=)
|
rs750016196
|
|
NM_001035.3(RYR2):c.705G>A (p.Arg235=)
|
|
|
NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)
|
rs773070579
|
|
NM_001035.3(RYR2):c.7065G>A (p.Glu2355=)
|
rs1294243113
|
|
NM_001035.3(RYR2):c.706T>C (p.Leu236=)
|
rs1032660273
|
|
NM_001035.3(RYR2):c.7071T>A (p.Pro2357=)
|
rs1489908718
|
|
NM_001035.3(RYR2):c.7074C>T (p.Ser2358=)
|
rs2148728512
|
|
NM_001035.3(RYR2):c.7086C>G (p.Pro2362=)
|
|
|
NM_001035.3(RYR2):c.7106G>A (p.Ser2369Asn)
|
|
|
NM_001035.3(RYR2):c.7115+10A>G
|
rs1553264024
|
|
NM_001035.3(RYR2):c.7115+12A>G
|
|
|
NM_001035.3(RYR2):c.7115+13T>A
|
|
|
NM_001035.3(RYR2):c.7115+16A>G
|
rs754440462
|
|
NM_001035.3(RYR2):c.7115+19C>A
|
|
|
NM_001035.3(RYR2):c.7115+9A>G
|
rs2148728882
|
|
NM_001035.3(RYR2):c.7116-11A>G
|
|
|
NM_001035.3(RYR2):c.7116-11A>T
|
|
|
NM_001035.3(RYR2):c.7116-15A>C
|
rs1558120605
|
|
NM_001035.3(RYR2):c.711G>A (p.Leu237=)
|
rs759018901
|
|
NM_001035.3(RYR2):c.711G>C (p.Leu237=)
|
rs759018901
|
|
NM_001035.3(RYR2):c.7134A>G (p.Glu2378=)
|
|
|
NM_001035.3(RYR2):c.7140C>T (p.Asp2380=)
|
rs2148738346
|
|
NM_001035.3(RYR2):c.7146C>A (p.Ile2382=)
|
rs1459450227
|
|
NM_001035.3(RYR2):c.714T>C (p.His238=)
|
rs376541511
|
|
NM_001035.3(RYR2):c.7161G>C (p.Ala2387=)
|
rs371560909
|
|
NM_001035.3(RYR2):c.7173C>T (p.Phe2391=)
|
|
|
NM_001035.3(RYR2):c.7200A>T (p.Gly2400=)
|
rs777117043
|
|
NM_001035.3(RYR2):c.7212T>C (p.Pro2404=)
|
rs377714735
|
|
NM_001035.3(RYR2):c.7221+15G>C
|
|
|
NM_001035.3(RYR2):c.7221+18C>T
|
|
|
NM_001035.3(RYR2):c.7221+9C>G
|
|
|
NM_001035.3(RYR2):c.7222-11C>G
|
|
|
NM_001035.3(RYR2):c.7222-11C>T
|
|
|
NM_001035.3(RYR2):c.7222-12T>G
|
rs540308433
|
|
NM_001035.3(RYR2):c.7222-15T>A
|
rs1681763241
|
|
NM_001035.3(RYR2):c.7222-19T>G
|
|
|
NM_001035.3(RYR2):c.7222-4A>G
|
rs564974610
|
|
NM_001035.3(RYR2):c.7222-5T>C
|
rs895002085
|
|
NM_001035.3(RYR2):c.7222-6G>A
|
|
|
NM_001035.3(RYR2):c.7222-9C>T
|
rs780241690
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
NM_001035.3(RYR2):c.7263C>A (p.Ser2421=)
|
|
|
NM_001035.3(RYR2):c.7267T>C (p.Leu2423=)
|
|
|
NM_001035.3(RYR2):c.7272A>G (p.Arg2424=)
|
rs2148757919
|
|
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=)
|
rs876657578
|
|
NM_001035.3(RYR2):c.729G>A (p.Glu243=)
|
|
|
NM_001035.3(RYR2):c.7314C>A (p.Ile2438=)
|
rs374418643
|
|
NM_001035.3(RYR2):c.7314C>T (p.Ile2438=)
|
rs374418643
|
|
NM_001035.3(RYR2):c.7323G>A (p.Gln2441=)
|
|
|
NM_001035.3(RYR2):c.7342+9A>G
|
rs2148758575
|
|
NM_001035.3(RYR2):c.7343-13T>C
|
|
|
NM_001035.3(RYR2):c.7343-9C>G
|
|
|
NM_001035.3(RYR2):c.7350T>C (p.Asn2450=)
|
|
|
NM_001035.3(RYR2):c.7377G>C (p.Gly2459=)
|
|
|
NM_001035.3(RYR2):c.7383C>T (p.Cys2461=)
|
rs373881578
|
|
NM_001035.3(RYR2):c.7419C>T (p.Asp2473=)
|
rs2148789761
|
|
NM_001035.3(RYR2):c.741C>T (p.Val247=)
|
|
|
NM_001035.3(RYR2):c.7431G>A (p.Gly2477=)
|
rs1347991904
|
|
NM_001035.3(RYR2):c.7449C>T (p.Phe2483=)
|
|
|
NM_001035.3(RYR2):c.7494G>T (p.Ala2498=)
|
|
|
NM_001035.3(RYR2):c.7497T>A (p.Ala2499=)
|
|
|
NM_001035.3(RYR2):c.750A>G (p.Gly250=)
|
rs1572095976
|
|
NM_001035.3(RYR2):c.7512+10G>A
|
|
|
NM_001035.3(RYR2):c.7512+11A>C
|
|
|
NM_001035.3(RYR2):c.7512+14G>T
|
rs748775701
|
|
NM_001035.3(RYR2):c.7512+7T>C
|
|
|
NM_001035.3(RYR2):c.7512+8T>C
|
rs1384500147
|
|
NM_001035.3(RYR2):c.7513-13G>C
|
|
|
NM_001035.3(RYR2):c.7513-17C>T
|
|
|
NM_001035.3(RYR2):c.7513-18T>C
|
|
|
NM_001035.3(RYR2):c.7513-20_7513-18del
|
|
|
NM_001035.3(RYR2):c.7513-8T>G
|
rs727503402
|
|
NM_001035.3(RYR2):c.7524T>C (p.Ser2508=)
|
rs2148796054
|
|
NM_001035.3(RYR2):c.7533C>T (p.Asp2511=)
|
rs975710456
|
|
NM_001035.3(RYR2):c.7539C>T (p.Ala2513=)
|
|
|
NM_001035.3(RYR2):c.7554G>A (p.Arg2518=)
|
rs2148796286
|
|
NM_001035.3(RYR2):c.7569C>G (p.Ala2523=)
|
|
|
NM_001035.3(RYR2):c.756T>C (p.His252=)
|
|
|
NM_001035.3(RYR2):c.7575G>A (p.Leu2525=)
|
rs1682560212
|
|
NM_001035.3(RYR2):c.7581G>A (p.Leu2527=)
|
rs1328285136
|
|
NM_001035.3(RYR2):c.7584A>G (p.Leu2528=)
|
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
NM_001035.3(RYR2):c.75C>G (p.Thr25=)
|
|
|
NM_001035.3(RYR2):c.7602C>G (p.Leu2534=)
|
rs546732183
|
|
NM_001035.3(RYR2):c.7617G>A (p.Glu2539=)
|
|
|
NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)
|
rs373602064
|
|
NM_001035.3(RYR2):c.7647T>G (p.Leu2549=)
|
|
|
NM_001035.3(RYR2):c.7659T>C (p.Tyr2553=)
|
|
|
NM_001035.3(RYR2):c.765G>A (p.Glu255=)
|
rs2149848184
|
|
NM_001035.3(RYR2):c.7725T>C (p.Ser2575=)
|
|
|
NM_001035.3(RYR2):c.7726A>G (p.Ile2576Val)
|
|
|
NM_001035.3(RYR2):c.7728T>C (p.Ile2576=)
|
|
|
NM_001035.3(RYR2):c.773+14C>G
|
|
|
NM_001035.3(RYR2):c.773+8C>A
|
rs1394250066
|
|
NM_001035.3(RYR2):c.773+9C>A
|
|
|
NM_001035.3(RYR2):c.7733+13C>A
|
|
|
NM_001035.3(RYR2):c.7733+8G>C
|
rs1426151116
|
|
NM_001035.3(RYR2):c.7733+8G>T
|
|
|
NM_001035.3(RYR2):c.7734-15G>A
|
|
|
NM_001035.3(RYR2):c.7734-5A>G
|
rs1438144185
|
|
NM_001035.3(RYR2):c.7738C>T (p.Leu2580=)
|
|
|
NM_001035.3(RYR2):c.774-14G>A
|
rs370114411
|
|
NM_001035.3(RYR2):c.774-15del
|
|
|
NM_001035.3(RYR2):c.774-21TTTG[2]
|
|
|
NM_001035.3(RYR2):c.774-8T>C
|
|
|
NM_001035.3(RYR2):c.7746T>G (p.Pro2582=)
|
rs1682719111
|
|
NM_001035.3(RYR2):c.7762T>C (p.Leu2588=)
|
rs2148804004
|
|
NM_001035.3(RYR2):c.7791A>G (p.Pro2597=)
|
|
|
NM_001035.3(RYR2):c.7808C>G (p.Ala2603Gly)
|
|
|
NM_001035.3(RYR2):c.7824+16G>A
|
rs749424932
|
|
NM_001035.3(RYR2):c.7824+18T>C
|
|
|
NM_001035.3(RYR2):c.7825-10T>A
|
rs1441653928
|
|
NM_001035.3(RYR2):c.7825-20A>G
|
|
|
NM_001035.3(RYR2):c.7825C>T (p.Leu2609=)
|
rs767568460
|
|
NM_001035.3(RYR2):c.7851C>T (p.Cys2617=)
|
rs752625888
|
|
NM_001035.3(RYR2):c.7869G>C (p.Leu2623=)
|
|
|
NM_001035.3(RYR2):c.786T>C (p.Tyr262=)
|
|
|
NM_001035.3(RYR2):c.7878G>T (p.Gly2626=)
|
rs1553269593
|
|
NM_001035.3(RYR2):c.7896T>C (p.Ala2632=)
|
|
|
NM_001035.3(RYR2):c.7902A>G (p.Ser2634=)
|
|
|
NM_001035.3(RYR2):c.7929G>A (p.Lys2643=)
|
rs758412310
|
|
NM_001035.3(RYR2):c.7954C>T (p.Leu2652=)
|
|
|
NM_001035.3(RYR2):c.7959T>C (p.Ser2653=)
|
rs2148817903
|
|
NM_001035.3(RYR2):c.7965+13T>C
|
|
|
NM_001035.3(RYR2):c.7965+20G>A
|
|
|
NM_001035.3(RYR2):c.7966-11A>G
|
|
|
NM_001035.3(RYR2):c.7966-15C>T
|
|
|
NM_001035.3(RYR2):c.7966-16C>T
|
|
|
NM_001035.3(RYR2):c.7966-19G>T
|
|
|
NM_001035.3(RYR2):c.7966-6T>C
|
rs2148823040
|
|
NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)
|
|
|
NM_001035.3(RYR2):c.7980A>G (p.Glu2660=)
|
|
|
NM_001035.3(RYR2):c.798T>C (p.Ala266=)
|
|
|
NM_001035.3(RYR2):c.8013A>C (p.Ala2671=)
|
rs1237709417
|
|
NM_001035.3(RYR2):c.8013A>T (p.Ala2671=)
|
rs1237709417
|
|
NM_001035.3(RYR2):c.8034A>G (p.Pro2678=)
|
rs1292632486
|
|
NM_001035.3(RYR2):c.8049A>C (p.Ser2683=)
|
|
|
NM_001035.3(RYR2):c.804T>G (p.Ser268=)
|
|
|
NM_001035.3(RYR2):c.8070A>G (p.Glu2690=)
|
rs1683203086
|
|
NM_001035.3(RYR2):c.8073A>G (p.Lys2691=)
|
|
|
NM_001035.3(RYR2):c.8076G>A (p.Gln2692=)
|
rs1425029026
|
|
NM_001035.3(RYR2):c.8079A>G (p.Ser2693=)
|
|
|
NM_001035.3(RYR2):c.807T>C (p.Val269=)
|
|
|
NM_001035.3(RYR2):c.8103T>C (p.Phe2701=)
|
|
|
NM_001035.3(RYR2):c.8115T>C (p.Pro2705=)
|
rs1573369150
|
|
NM_001035.3(RYR2):c.8124C>T (p.Thr2708=)
|
|
|
NM_001035.3(RYR2):c.8129+10C>T
|
rs2148823810
|
|
NM_001035.3(RYR2):c.8129+12T>G
|
|
|
NM_001035.3(RYR2):c.8129+14C>T
|
|
|
NM_001035.3(RYR2):c.8129+16A>G
|
|
|
NM_001035.3(RYR2):c.8129+18T>A
|
|
|
NM_001035.3(RYR2):c.8129+7A>T
|
|
|
NM_001035.3(RYR2):c.8130-12C>A
|
rs1683411144
|
|
NM_001035.3(RYR2):c.8130-13A>G
|
|
|
NM_001035.3(RYR2):c.8130-20T>G
|
|
|
NM_001035.3(RYR2):c.8130-7C>T
|
|
|
NM_001035.3(RYR2):c.8151G>A (p.Leu2717=)
|
rs1361143892
|
|
NM_001035.3(RYR2):c.8154A>G (p.Glu2718=)
|
|
|
NM_001035.3(RYR2):c.8157C>T (p.Tyr2719=)
|
|
|
NM_001035.3(RYR2):c.8199A>C (p.Ser2733=)
|
|
|
NM_001035.3(RYR2):c.81C>G (p.Thr27=)
|
rs919652347
|
|
NM_001035.3(RYR2):c.8208+10G>A
|
|
|
NM_001035.3(RYR2):c.8208+18T>A
|
rs1340011974
|
|
NM_001035.3(RYR2):c.8209-11C>T
|
rs1032335005
|
|
NM_001035.3(RYR2):c.8209-12C>T
|
|
|
NM_001035.3(RYR2):c.8209-13G>A
|
rs759582222
|
|
NM_001035.3(RYR2):c.8209-14T>G
|
|
|
NM_001035.3(RYR2):c.8209-6T>C
|
|
|
NM_001035.3(RYR2):c.8209-7_8209-4del
|
rs876657992
|
|
NM_001035.3(RYR2):c.8224A>G (p.Ile2742Val)
|
|
|
NM_001035.3(RYR2):c.822T>C (p.Leu274=)
|
|
|
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
|
|
|
NM_001035.3(RYR2):c.8247C>T (p.Asp2749=)
|
rs878854161
|
|
NM_001035.3(RYR2):c.8268A>G (p.Leu2756=)
|
|
|
NM_001035.3(RYR2):c.8274G>A (p.Lys2758=)
|
rs1035038004
|
|
NM_001035.3(RYR2):c.8277A>G (p.Pro2759=)
|
rs2148841899
|
|
NM_001035.3(RYR2):c.8286A>G (p.Leu2762=)
|
rs747555778
|
|
NM_001035.3(RYR2):c.8298+17del
|
|
|
NM_001035.3(RYR2):c.8298+18_8298+21del
|
rs1269850855
|
|
NM_001035.3(RYR2):c.8298+7A>T
|
|
|
NM_001035.3(RYR2):c.8299-19C>A
|
|
|
NM_001035.3(RYR2):c.8316C>T (p.Arg2772=)
|
|
|
NM_001035.3(RYR2):c.8322A>C (p.Pro2774=)
|
rs1553272172
|
|
NM_001035.3(RYR2):c.8331A>G (p.Glu2777=)
|
rs1057520894
|
|
NM_001035.3(RYR2):c.834G>A (p.Glu278=)
|
rs776594549
|
|
NM_001035.3(RYR2):c.8370A>T (p.Glu2790Asp)
|
|
|
NM_001035.3(RYR2):c.8379G>T (p.Arg2793=)
|
|
|
NM_001035.3(RYR2):c.837G>T (p.Thr279=)
|
rs769682840
|
|
NM_001035.3(RYR2):c.8382G>A (p.Glu2794=)
|
rs1573391972
|
|
NM_001035.3(RYR2):c.8391C>T (p.Ser2797=)
|
|
|
NM_001035.3(RYR2):c.840A>C (p.Leu280=)
|
rs1473940228
|
|
NM_001035.3(RYR2):c.8433C>T (p.Ser2811=)
|
rs1573392353
|
|
NM_001035.3(RYR2):c.8436+15C>A
|
|
|
NM_001035.3(RYR2):c.8436+16G>A
|
|
|
NM_001035.3(RYR2):c.8436+17G>A
|
|
|
NM_001035.3(RYR2):c.8437-18T>C
|
rs2148872506
|
|
NM_001035.3(RYR2):c.8437-4C>T
|
|
|
NM_001035.3(RYR2):c.8437-5T>C
|
|
|
NM_001035.3(RYR2):c.8437-7G>C
|
rs770428535
|
|
NM_001035.3(RYR2):c.8437-8T>C
|
|
|
NM_001035.3(RYR2):c.8439T>G (p.Val2813=)
|
|
|
NM_001035.3(RYR2):c.8443G>A (p.Val2815Met)
|
|
|
NM_001035.3(RYR2):c.8454C>T (p.Ala2818=)
|
rs916645207
|
|
NM_001035.3(RYR2):c.8463C>T (p.Tyr2821=)
|
|
|
NM_001035.3(RYR2):c.846T>A (p.Val282=)
|
|
|
NM_001035.3(RYR2):c.8475C>A (p.Ala2825=)
|
rs2148872803
|
|
NM_001035.3(RYR2):c.848+12T>G
|
|
|
NM_001035.3(RYR2):c.848+15T>G
|
|
|
NM_001035.3(RYR2):c.848+18A>G
|
|
|
NM_001035.3(RYR2):c.848+19C>T
|
|
|
NM_001035.3(RYR2):c.848+21_848+22del
|
|
|
NM_001035.3(RYR2):c.849-12T>C
|
|
|
NM_001035.3(RYR2):c.849-16T>C
|
|
|
NM_001035.3(RYR2):c.849-5A>G
|
|
|
NM_001035.3(RYR2):c.8514+10A>T
|
rs2148872974
|
|
NM_001035.3(RYR2):c.8514+19T>A
|
|
|
NM_001035.3(RYR2):c.8514+23_8514+24dup
|
|
|
NM_001035.3(RYR2):c.8514+30_8514+31insATTTAAAAATAGACTATTTAAAAATAGTCT
|
|
|
NM_001035.3(RYR2):c.8514+8C>G
|
|
|
NM_001035.3(RYR2):c.8515-18T>C
|
|
|
NM_001035.3(RYR2):c.8538A>G (p.Glu2846=)
|
rs1187397798
|
|
NM_001035.3(RYR2):c.8541C>T (p.Asn2847=)
|
rs2148878456
|
|
NM_001035.3(RYR2):c.8550T>C (p.Asn2850=)
|
|
|
NM_001035.3(RYR2):c.8565A>G (p.Lys2855=)
|
|
|
NM_001035.3(RYR2):c.8590+18C>A
|
rs376966521
|
|
NM_001035.3(RYR2):c.8590+19G>A
|
|
|
NM_001035.3(RYR2):c.8590+19G>T
|
|
|
NM_001035.3(RYR2):c.8591-11C>T
|
|
|
NM_001035.3(RYR2):c.8591-13G>A
|
|
|
NM_001035.3(RYR2):c.8591-16C>T
|
|
|
NM_001035.3(RYR2):c.8591-5C>G
|
|
|
NM_001035.3(RYR2):c.8591-9_8591-8del
|
|
|
NM_001035.3(RYR2):c.8595A>C (p.Gly2865=)
|
rs1573463108
|
|
NM_001035.3(RYR2):c.8595A>G (p.Gly2865=)
|
rs1573463108
|
|
NM_001035.3(RYR2):c.8616G>A (p.Val2872=)
|
rs1553277228
|
|
NM_001035.3(RYR2):c.8619C>G (p.Pro2873=)
|
|
|
NM_001035.3(RYR2):c.8622T>C (p.Tyr2874=)
|
rs1573463340
|
|
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=)
|
rs749903392
|
|
NM_001035.3(RYR2):c.8661A>G (p.Glu2887=)
|
|
|
NM_001035.3(RYR2):c.8676C>T (p.Ile2892=)
|
|
|
NM_001035.3(RYR2):c.8709A>G (p.Val2903=)
|
|
|
NM_001035.3(RYR2):c.8714+11A>G
|
rs1270886614
|
|
NM_001035.3(RYR2):c.8714+9A>G
|
rs541149328
|
|
NM_001035.3(RYR2):c.8715-10del
|
|
|
NM_001035.3(RYR2):c.8715-16A>G
|
|
|
NM_001035.3(RYR2):c.8715-16A>T
|
|
|
NM_001035.3(RYR2):c.8715-4C>G
|
rs1024126701
|
|
NM_001035.3(RYR2):c.8715-9C>T
|
|
|
NM_001035.3(RYR2):c.8718A>C (p.Gly2906=)
|
|
|
NM_001035.3(RYR2):c.8724G>A (p.Lys2908=)
|
|
|
NM_001035.3(RYR2):c.8741C>T (p.Thr2914Met)
|
|
|
NM_001035.3(RYR2):c.8754G>A (p.Glu2918=)
|
rs2148911647
|
|
NM_001035.3(RYR2):c.8757A>G (p.Lys2919=)
|
rs1685252629
|
|
NM_001035.3(RYR2):c.8775C>T (p.Phe2925=)
|
|
|
NM_001035.3(RYR2):c.8790T>A (p.Ile2930=)
|
|
|
NM_001035.3(RYR2):c.8826G>A (p.Glu2942=)
|
|
|
NM_001035.3(RYR2):c.882A>G (p.Pro294=)
|
rs1553446366
|
|
NM_001035.3(RYR2):c.882A>T (p.Pro294=)
|
|
|
NM_001035.3(RYR2):c.8830+10A>G
|
|
|
NM_001035.3(RYR2):c.8830+11T>C
|
|
|
NM_001035.3(RYR2):c.8830+16C>T
|
|
|
NM_001035.3(RYR2):c.8831-14C>T
|
|
|
NM_001035.3(RYR2):c.8831-17A>G
|
|
|
NM_001035.3(RYR2):c.8831-7T>C
|
rs2148925899
|
|
NM_001035.3(RYR2):c.8838C>T (p.Gly2946=)
|
rs758912397
|
|
NM_001035.3(RYR2):c.8844A>G (p.Arg2948=)
|
|
|
NM_001035.3(RYR2):c.8849A>G (p.Lys2950Arg)
|
|
|
NM_001035.3(RYR2):c.8862C>T (p.Phe2954=)
|
rs2148926083
|
|
NM_001035.3(RYR2):c.8880C>T (p.Ile2960=)
|
rs1573480855
|
|
NM_001035.3(RYR2):c.888A>G (p.Arg296=)
|
rs1263386810
|
|
NM_001035.3(RYR2):c.8892A>T (p.Ala2964=)
|
rs1230616298
|
|
NM_001035.3(RYR2):c.8895+12A>G
|
|
|
NM_001035.3(RYR2):c.8895+13A>G
|
|
|
NM_001035.3(RYR2):c.8895+15C>G
|
|
|
NM_001035.3(RYR2):c.8895+17A>G
|
|
|
NM_001035.3(RYR2):c.8895+17_8895+20del
|
|
|
NM_001035.3(RYR2):c.8895+7T>C
|
rs2148926350
|
|
NM_001035.3(RYR2):c.8896-17C>A
|
|
|
NM_001035.3(RYR2):c.8896-17_8896-15del
|
|
|
NM_001035.3(RYR2):c.8896-18T>G
|
|
|
NM_001035.3(RYR2):c.8898C>T (p.Val2966=)
|
rs766514100
|
|
NM_001035.3(RYR2):c.8907T>C (p.Pro2969=)
|
|
|
NM_001035.3(RYR2):c.8919G>A (p.Gln2973=)
|
rs1281776816
|
|
NM_001035.3(RYR2):c.8991C>T (p.Ser2997=)
|
|
|
NM_001035.3(RYR2):c.900C>T (p.Val300=)
|
rs2150058236
|
|
NM_001035.3(RYR2):c.9017+15A>G
|
|
|
NM_001035.3(RYR2):c.9017+16A>T
|
|
|
NM_001035.3(RYR2):c.9017+8G>A
|
|
|
NM_001035.3(RYR2):c.9018-17_9018-7del
|
rs1686523446
|
|
NM_001035.3(RYR2):c.9042T>A (p.Leu3014=)
|
|
|
NM_001035.3(RYR2):c.9048G>A (p.Arg3016=)
|
|
|
NM_001035.3(RYR2):c.9060A>G (p.Ser3020=)
|
|
|
NM_001035.3(RYR2):c.9067+11C>T
|
|
|
NM_001035.3(RYR2):c.9067+17A>C
|
|
|
NM_001035.3(RYR2):c.9067+18A>G
|
|
|
NM_001035.3(RYR2):c.9067+9A>G
|
|
|
NM_001035.3(RYR2):c.9068-18A>C
|
rs1036402862
|
|
NM_001035.3(RYR2):c.9068-6C>G
|
|
|
NM_001035.3(RYR2):c.9068-9C>G
|
rs2149026201
|
|
NM_001035.3(RYR2):c.9069C>T (p.Gly3023=)
|
|
|
NM_001035.3(RYR2):c.90A>G (p.Lys30=)
|
rs1366634657
|
|
NM_001035.3(RYR2):c.9105T>C (p.Ile3035=)
|
rs1687732005
|
|
NM_001035.3(RYR2):c.9114G>A (p.Gln3038=)
|
|
|
NM_001035.3(RYR2):c.9123T>C (p.Asp3041=)
|
|
|
NM_001035.3(RYR2):c.9129-10T>A
|
rs876657993
|
|
NM_001035.3(RYR2):c.9129-14T>C
|
|
|
NM_001035.3(RYR2):c.9129-20C>T
|
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
NM_001035.3(RYR2):c.9129-7T>G
|
rs1466669135
|
|
NM_001035.3(RYR2):c.9135G>A (p.Val3045=)
|
rs2149031134
|
|
NM_001035.3(RYR2):c.9159T>A (p.Val3053=)
|
|
|
NM_001035.3(RYR2):c.916T>C (p.Leu306=)
|
rs1159486360
|
|
NM_001035.3(RYR2):c.9174A>G (p.Arg3058=)
|
rs1050820001
|
|
NM_001035.3(RYR2):c.9222C>T (p.Asn3074=)
|
|
|
NM_001035.3(RYR2):c.9231G>A (p.Gln3077=)
|
rs2149031536
|
|
NM_001035.3(RYR2):c.9234C>A (p.Gly3078=)
|
|
|
NM_001035.3(RYR2):c.9237G>A (p.Gln3079=)
|
|
|
NM_001035.3(RYR2):c.9249C>T (p.Thr3083=)
|
|
|
NM_001035.3(RYR2):c.9250C>A (p.Arg3084=)
|
rs1356957973
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
NM_001035.3(RYR2):c.9321A>G (p.Ser3107=)
|
|
|
NM_001035.3(RYR2):c.9324A>G (p.Leu3108=)
|
rs1687865785
|
|
NM_001035.3(RYR2):c.9333T>C (p.His3111=)
|
rs965167497
|
|
NM_001035.3(RYR2):c.9336T>C (p.Ile3112=)
|
rs748626622
|
|
NM_001035.3(RYR2):c.9367+16T>A
|
rs775099398
|
|
NM_001035.3(RYR2):c.9367+17C>A
|
|
|
NM_001035.3(RYR2):c.9367+20G>T
|
|
|
NM_001035.3(RYR2):c.9367+21del
|
|
|
NM_001035.3(RYR2):c.9368-12C>G
|
|
|
NM_001035.3(RYR2):c.9368-13T>C
|
|
|
NM_001035.3(RYR2):c.9368-16T>A
|
|
|
NM_001035.3(RYR2):c.9368-4T>A
|
rs755202469
|
|
NM_001035.3(RYR2):c.9373G>C (p.Asp3125His)
|
|
|
NM_001035.3(RYR2):c.9375T>C (p.Asp3125=)
|
|
|
NM_001035.3(RYR2):c.9384G>A (p.Val3128=)
|
rs1225100895
|
|
NM_001035.3(RYR2):c.9387T>C (p.Ser3129=)
|
rs1688006622
|
|
NM_001035.3(RYR2):c.9393T>C (p.Tyr3131=)
|
|
|
NM_001035.3(RYR2):c.9402G>C (p.Leu3134=)
|
rs1688007851
|
|
NM_001035.3(RYR2):c.9408C>T (p.Ser3136=)
|
rs1688008727
|
|
NM_001035.3(RYR2):c.9411A>G (p.Leu3137=)
|
|
|
NM_001035.3(RYR2):c.9417T>G (p.Ala3139=)
|
rs765394638
|
|
NM_001035.3(RYR2):c.9449+15_9449+21del
|
|
|
NM_001035.3(RYR2):c.9449+15dup
|
|
|
NM_001035.3(RYR2):c.9449+16G>T
|
|
|
NM_001035.3(RYR2):c.9449+9G>A
|
|
|
NM_001035.3(RYR2):c.9450-15A>G
|
|
|
NM_001035.3(RYR2):c.9450-19A>G
|
|
|
NM_001035.3(RYR2):c.9450-4A>C
|
rs1006436726
|
|
NM_001035.3(RYR2):c.9465A>G (p.Leu3155=)
|
rs1688273184
|
|
NM_001035.3(RYR2):c.9477A>G (p.Leu3159=)
|
rs967916943
|
|
NM_001035.3(RYR2):c.9483C>G (p.Ala3161=)
|
|
|
NM_001035.3(RYR2):c.9495T>G (p.Ala3165=)
|
|
|
NM_001035.3(RYR2):c.9501T>A (p.Pro3167=)
|
|
|
NM_001035.3(RYR2):c.9522T>A (p.His3174Gln)
|
|
|
NM_001035.3(RYR2):c.9552C>T (p.Tyr3184=)
|
rs1321006730
|
|
NM_001035.3(RYR2):c.957A>G (p.Lys319=)
|
|
|
NM_001035.3(RYR2):c.9580+18G>T
|
|
|
NM_001035.3(RYR2):c.9580+19C>T
|
|
|
NM_001035.3(RYR2):c.9580+8A>G
|
|
|
NM_001035.3(RYR2):c.9581-15T>C
|
|
|
NM_001035.3(RYR2):c.9581-16A>G
|
|
|
NM_001035.3(RYR2):c.9581-4C>T
|
|
|
NM_001035.3(RYR2):c.9581-545C>T
|
|
|
NM_001035.3(RYR2):c.9581-8T>C
|
rs1558258551
|
|
NM_001035.3(RYR2):c.9581-9C>T
|
rs2149057929
|
|
NM_001035.3(RYR2):c.9594A>G (p.Pro3198=)
|
rs1448241605
|
|
NM_001035.3(RYR2):c.9600T>C (p.Asn3200=)
|
rs772853405
|
|
NM_001035.3(RYR2):c.960G>A (p.Glu320=)
|
rs1572253938
|
|
NM_001035.3(RYR2):c.9618A>C (p.Pro3206=)
|
rs1314966595
|
|
NM_001035.3(RYR2):c.9618A>G (p.Pro3206=)
|
rs1314966595
|
|
NM_001035.3(RYR2):c.9654C>T (p.Ile3218=)
|
rs1472161324
|
|
NM_001035.3(RYR2):c.9657G>A (p.Val3219=)
|
|
|
NM_001035.3(RYR2):c.9669G>A (p.Glu3223=)
|
|
|
NM_001035.3(RYR2):c.9684C>T (p.Tyr3228=)
|
|
|
NM_001035.3(RYR2):c.9699T>C (p.His3233=)
|
|
|
NM_001035.3(RYR2):c.9711C>T (p.Val3237=)
|
|
|
NM_001035.3(RYR2):c.972A>G (p.Val324=)
|
|
|
NM_001035.3(RYR2):c.9732C>T (p.Ser3244=)
|
|
|
NM_001035.3(RYR2):c.9756T>C (p.His3252=)
|
rs2149059008
|
|
NM_001035.3(RYR2):c.9759A>C (p.Gly3253=)
|
rs1553293285
|
|
NM_001035.3(RYR2):c.9762T>C (p.Pro3254=)
|
rs764355636
|
|
NM_001035.3(RYR2):c.9770A>G (p.Asn3257Ser)
|
rs1167753426
|
|
NM_001035.3(RYR2):c.9784G>A (p.Glu3262Lys)
|
|
|
NM_001035.3(RYR2):c.9807C>T (p.Asn3269=)
|
rs1553293326
|
|
NM_001035.3(RYR2):c.9816C>T (p.His3272=)
|
rs2149059346
|
|
NM_001035.3(RYR2):c.9852A>T (p.Ile3284=)
|
|
|
NM_001035.3(RYR2):c.9897A>G (p.Leu3299=)
|
|
|
NM_001035.3(RYR2):c.9901+19C>G
|
rs1226976865
|
|
NM_001035.3(RYR2):c.9901+20A>G
|
|
|
NM_001035.3(RYR2):c.9901+9T>A
|
rs1553293394
|
|
NM_001035.3(RYR2):c.9902-17T>C
|
|
|
NM_001035.3(RYR2):c.9943T>C (p.Leu3315=)
|
rs2149066640
|
|
NM_001035.3(RYR2):c.9951T>C (p.Thr3317=)
|
|
|
NM_001035.3(RYR2):c.9954T>C (p.His3318=)
|
rs371965471
|
|
NM_001035.3(RYR2):c.9972G>A (p.Glu3324=)
|
|
|
NM_001035.3(RYR2):c.9978C>G (p.Leu3326=)
|
|
|
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)
|
rs397516552
|
|
NM_001035.3(RYR2):c.9996G>C (p.Thr3332=)
|
|
|
NM_001035.3(RYR2):c.9999G>A (p.Val3333=)
|
|
|
NM_001035.3(RYR2):c.999T>C (p.Ser333=)
|
|
|
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
|
|
|
NM_001232.4(CASQ2):c.1014+10C>T
|
|
|
NM_001232.4(CASQ2):c.1014+11C>T
|
|
|
NM_001232.4(CASQ2):c.1014+13T>C
|
|
|
NM_001232.4(CASQ2):c.1014+14G>A
|
|
|
NM_001232.4(CASQ2):c.1014+16G>A
|
|
|
NM_001232.4(CASQ2):c.1014+20G>A
|
|
|
NM_001232.4(CASQ2):c.1014+20G>T
|
rs369540921
|
|
NM_001232.4(CASQ2):c.1015-16T>C
|
|
|
NM_001232.4(CASQ2):c.1015-20C>A
|
|
|
NM_001232.4(CASQ2):c.1015-6C>T
|
|
|
NM_001232.4(CASQ2):c.1041A>T (p.Pro347=)
|
|
|
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
|
|
|
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=)
|
rs754889548
|
|
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)
|
|
|
NM_001232.4(CASQ2):c.1122T>C (p.Asp374=)
|
|
|
NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)
|
|
|
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)
|
|
|
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)
|
|
|
NM_001232.4(CASQ2):c.114C>A (p.Ser38=)
|
rs571353035
|
|
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=)
|
rs1557783672
|
|
NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)
|
|
|
NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)
|
|
|
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)
|
|
|
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=)
|
rs1251308717
|
|
NM_001232.4(CASQ2):c.120G>A (p.Lys40=)
|
|
|
NM_001232.4(CASQ2):c.12T>C (p.Thr4=)
|
|
|
NM_001232.4(CASQ2):c.132G>A (p.Gln44=)
|
|
|
NM_001232.4(CASQ2):c.150C>T (p.Asp50=)
|
rs1570867364
|
|
NM_001232.4(CASQ2):c.15C>T (p.His5=)
|
|
|
NM_001232.4(CASQ2):c.165C>T (p.Tyr55=)
|
|
|
NM_001232.4(CASQ2):c.171T>C (p.His57=)
|
|
|
NM_001232.4(CASQ2):c.174G>A (p.Glu58=)
|
|
|
NM_001232.4(CASQ2):c.177G>T (p.Pro59=)
|
rs371260149
|
|
NM_001232.4(CASQ2):c.180G>C (p.Val60=)
|
|
|
NM_001232.4(CASQ2):c.207G>A (p.Gln69=)
|
|
|
NM_001232.4(CASQ2):c.210C>T (p.Phe70=)
|
rs774492523
|
|
NM_001232.4(CASQ2):c.231T>C (p.Leu77=)
|
rs2101130383
|
|
NM_001232.4(CASQ2):c.234+13A>T
|
|
|
NM_001232.4(CASQ2):c.234+17C>T
|
|
|
NM_001232.4(CASQ2):c.234+18A>G
|
|
|
NM_001232.4(CASQ2):c.234+20G>A
|
|
|
NM_001232.4(CASQ2):c.234+8A>C
|
|
|
NM_001232.4(CASQ2):c.234+9C>T
|
|
|
NM_001232.4(CASQ2):c.235-10del
|
|
|
NM_001232.4(CASQ2):c.235-14A>G
|
|
|
NM_001232.4(CASQ2):c.235-15C>T
|
|
|
NM_001232.4(CASQ2):c.235-17del
|
|
|
NM_001232.4(CASQ2):c.235-8T>C
|
rs2101101082
|
|
NM_001232.4(CASQ2):c.240G>A (p.Val80=)
|
rs2101101070
|
|
NM_001232.4(CASQ2):c.240G>T (p.Val80=)
|
|
|
NM_001232.4(CASQ2):c.249C>T (p.Val83=)
|
|
|
NM_001232.4(CASQ2):c.294A>G (p.Lys98=)
|
|
|
NM_001232.4(CASQ2):c.303G>A (p.Lys101=)
|
|
|
NM_001232.4(CASQ2):c.306T>G (p.Leu102=)
|
|
|
NM_001232.4(CASQ2):c.319+10A>T
|
|
|
NM_001232.4(CASQ2):c.319+11T>C
|
|
|
NM_001232.4(CASQ2):c.319+16G>C
|
|
|
NM_001232.4(CASQ2):c.319+20T>A
|
rs751551798
|
|
NM_001232.4(CASQ2):c.320-10T>C
|
rs553194567
|
|
NM_001232.4(CASQ2):c.320-11G>T
|
|
|
NM_001232.4(CASQ2):c.320-15C>G
|
|
|
NM_001232.4(CASQ2):c.320-20G>A
|
|
|
NM_001232.4(CASQ2):c.320-7C>T
|
|
|
NM_001232.4(CASQ2):c.33T>C (p.Ile11=)
|
|
|
NM_001232.4(CASQ2):c.340C>T (p.Leu114=)
|
|
|
NM_001232.4(CASQ2):c.342G>A (p.Leu114=)
|
rs1399153364
|
|
NM_001232.4(CASQ2):c.348T>C (p.Ile116=)
|
|
|
NM_001232.4(CASQ2):c.354G>A (p.Lys118=)
|
rs1648148662
|
|
NM_001232.4(CASQ2):c.357T>C (p.Gly119=)
|
|
|
NM_001232.4(CASQ2):c.366A>G (p.Thr122=)
|
|
|
NM_001232.4(CASQ2):c.381C>A (p.Gly127=)
|
|
|
NM_001232.4(CASQ2):c.420+14C>T
|
|
|
NM_001232.4(CASQ2):c.420+16C>T
|
|
|
NM_001232.4(CASQ2):c.420+16_420+17del
|
|
|
NM_001232.4(CASQ2):c.420+17A>G
|
|
|
NM_001232.4(CASQ2):c.420+18G>C
|
|
|
NM_001232.4(CASQ2):c.420+20G>A
|
|
|
NM_001232.4(CASQ2):c.420+8_420+9insATAAATGC
|
|
|
NM_001232.4(CASQ2):c.423A>G (p.Leu141=)
|
rs770571012
|
|
NM_001232.4(CASQ2):c.426T>C (p.Ile142=)
|
|
|
NM_001232.4(CASQ2):c.432C>T (p.Asp144=)
|
|
|
NM_001232.4(CASQ2):c.435A>G (p.Pro145=)
|
rs1570831633
|
|
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
|
|
|
NM_001232.4(CASQ2):c.444C>T (p.Ile148=)
|
|
|
NM_001232.4(CASQ2):c.48T>C (p.Ser16=)
|
rs2101130724
|
|
NM_001232.4(CASQ2):c.519T>C (p.Ser173=)
|
|
|
NM_001232.4(CASQ2):c.522G>A (p.Glu174=)
|
rs2101091922
|
|
NM_001232.4(CASQ2):c.525C>T (p.Asp175=)
|
|
|
NM_001232.4(CASQ2):c.532+13C>T
|
rs1442512343
|
|
NM_001232.4(CASQ2):c.532+14C>A
|
|
|
NM_001232.4(CASQ2):c.532+17C>T
|
|
|
NM_001232.4(CASQ2):c.532+7T>A
|
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|
NM_001232.4(CASQ2):c.532+7T>G
|
|
|
NM_001232.4(CASQ2):c.532+8G>T
|
|
|
NM_001232.4(CASQ2):c.532+9T>C
|
|
|
NM_001232.4(CASQ2):c.533-13T>C
|
|
|
NM_001232.4(CASQ2):c.533-15del
|
|
|
NM_001232.4(CASQ2):c.533-19T>C
|
|
|
NM_001232.4(CASQ2):c.533-5C>T
|
|
|
NM_001232.4(CASQ2):c.543T>G (p.Ala181=)
|
rs912740566
|
|
NM_001232.4(CASQ2):c.564C>T (p.His188=)
|
|
|
NM_001232.4(CASQ2):c.603A>G (p.Lys201=)
|
rs1557794917
|
|
NM_001232.4(CASQ2):c.606+16A>G
|
|
|
NM_001232.4(CASQ2):c.606+18C>T
|
|
|
NM_001232.4(CASQ2):c.606+7A>T
|
rs1060504495
|
|
NM_001232.4(CASQ2):c.607-16T>A
|
|
|
NM_001232.4(CASQ2):c.607-17A>C
|
|
|
NM_001232.4(CASQ2):c.607-18T>G
|
|
|
NM_001232.4(CASQ2):c.607-5T>C
|
|
|
NM_001232.4(CASQ2):c.607-6T>C
|
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|
NM_001232.4(CASQ2):c.607-7G>T
|
|
|
NM_001232.4(CASQ2):c.607-8G>T
|
|
|
NM_001232.4(CASQ2):c.607-9T>C
|
|
|
NM_001232.4(CASQ2):c.625T>C (p.Leu209=)
|
rs2101079232
|
|
NM_001232.4(CASQ2):c.630G>A (p.Lys210=)
|
|
|
NM_001232.4(CASQ2):c.636T>C (p.Asn212=)
|
|
|
NM_001232.4(CASQ2):c.657A>G (p.Pro219=)
|
|
|
NM_001232.4(CASQ2):c.669G>A (p.Glu223=)
|
|
|
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
|
|
|
NM_001232.4(CASQ2):c.675T>A (p.Ile225=)
|
|
|
NM_001232.4(CASQ2):c.684C>T (p.Pro228=)
|
|
|
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
|
|
|
NM_001232.4(CASQ2):c.737+12G>A
|
|
|
NM_001232.4(CASQ2):c.737+13G>A
|
|
|
NM_001232.4(CASQ2):c.737+13G>T
|
|
|
NM_001232.4(CASQ2):c.737+15A>G
|
|
|
NM_001232.4(CASQ2):c.737+16T>C
|
|
|
NM_001232.4(CASQ2):c.737+17G>A
|
rs1196679914
|
|
NM_001232.4(CASQ2):c.737+17G>T
|
|
|
NM_001232.4(CASQ2):c.737+19G>A
|
|
|
NM_001232.4(CASQ2):c.737+7G>A
|
|
|
NM_001232.4(CASQ2):c.737+8A>T
|
|
|
NM_001232.4(CASQ2):c.737+9G>T
|
|
|
NM_001232.4(CASQ2):c.738-15_738-5del
|
|
|
NM_001232.4(CASQ2):c.738-16T>G
|
|
|
NM_001232.4(CASQ2):c.738-16_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-17_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-19_738-5del
|
|
|
NM_001232.4(CASQ2):c.738-20T>C
|
|
|
NM_001232.4(CASQ2):c.738-4C>A
|
|
|
NM_001232.4(CASQ2):c.738-6_738-4dup
|
|
|
NM_001232.4(CASQ2):c.738-8T>C
|
|
|
NM_001232.4(CASQ2):c.741C>T (p.Pro247=)
|
|
|
NM_001232.4(CASQ2):c.753C>G (p.Arg251=)
|
|
|
NM_001232.4(CASQ2):c.753C>T (p.Arg251=)
|
|
|
NM_001232.4(CASQ2):c.762A>C (p.Pro254=)
|
|
|
NM_001232.4(CASQ2):c.783+13C>G
|
|
|
NM_001232.4(CASQ2):c.783+14A>G
|
|
|
NM_001232.4(CASQ2):c.783+17del
|
|
|
NM_001232.4(CASQ2):c.783+19C>G
|
|
|
NM_001232.4(CASQ2):c.784-11T>C
|
|
|
NM_001232.4(CASQ2):c.784-14_784-12dup
|
|
|
NM_001232.4(CASQ2):c.784-15A>G
|
|
|
NM_001232.4(CASQ2):c.784-18del
|
|
|
NM_001232.4(CASQ2):c.784-19T>G
|
|
|
NM_001232.4(CASQ2):c.784-5T>C
|
rs2101068877
|
|
NM_001232.4(CASQ2):c.784-6A>G
|
|
|
NM_001232.4(CASQ2):c.784-7C>T
|
rs2101068879
|
|
NM_001232.4(CASQ2):c.784-9C>G
|
rs2101068882
|
|
NM_001232.4(CASQ2):c.825G>A (p.Glu275=)
|
|
|
NM_001232.4(CASQ2):c.828G>A (p.Lys276=)
|
|
|
NM_001232.4(CASQ2):c.838+10C>A
|
|
|
NM_001232.4(CASQ2):c.838+10C>T
|
|
|
NM_001232.4(CASQ2):c.838+16C>A
|
|
|
NM_001232.4(CASQ2):c.838+18T>A
|
|
|
NM_001232.4(CASQ2):c.838+9C>A
|
|
|
NM_001232.4(CASQ2):c.839-10C>A
|
rs1285000814
|
|
NM_001232.4(CASQ2):c.839-18T>A
|
|
|
NM_001232.4(CASQ2):c.839-19C>G
|
|
|
NM_001232.4(CASQ2):c.839-8T>C
|
|
|
NM_001232.4(CASQ2):c.843C>G (p.Gly281=)
|
|
|
NM_001232.4(CASQ2):c.858G>A (p.Glu286=)
|
|
|
NM_001232.4(CASQ2):c.861C>T (p.Ile287=)
|
rs143718767
|
|
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
|
|
|
NM_001232.4(CASQ2):c.888T>C (p.Thr296=)
|
rs769250369
|
|
NM_001232.4(CASQ2):c.891C>T (p.Asp297=)
|
|
|
NM_001232.4(CASQ2):c.894C>T (p.Asn298=)
|
|
|
NM_001232.4(CASQ2):c.900T>C (p.Asp300=)
|
|
|
NM_001232.4(CASQ2):c.901C>T (p.Leu301=)
|
|
|
NM_001232.4(CASQ2):c.906C>T (p.Ser302=)
|
|
|
NM_001232.4(CASQ2):c.909C>A (p.Ile303=)
|
|
|
NM_001232.4(CASQ2):c.909C>T (p.Ile303=)
|
|
|
NM_001232.4(CASQ2):c.918C>T (p.Ile306=)
|
|
|
NM_001232.4(CASQ2):c.921C>T (p.Asp307=)
|
rs773111521
|
|
NM_001232.4(CASQ2):c.939+12C>T
|
|
|
NM_001232.4(CASQ2):c.939+13A>G
|
|
|
NM_001232.4(CASQ2):c.939+19C>A
|
rs370092811
|
|
NM_001232.4(CASQ2):c.939+19C>T
|
|
|
NM_001232.4(CASQ2):c.939+20G>A
|
rs1431164488
|
|
NM_001232.4(CASQ2):c.939+20G>C
|
|
|
NM_001232.4(CASQ2):c.939+8G>T
|
|
|
NM_001232.4(CASQ2):c.939+9C>T
|
rs2101055914
|
|
NM_001232.4(CASQ2):c.940-10G>A
|
|
|
NM_001232.4(CASQ2):c.940-12T>C
|
|
|
NM_001232.4(CASQ2):c.940-12T>G
|
|
|
NM_001232.4(CASQ2):c.940-18A>C
|
|
|
NM_001232.4(CASQ2):c.940-19T>C
|
|
|
NM_001232.4(CASQ2):c.940-7G>T
|
|
|
NM_001232.4(CASQ2):c.942C>G (p.Leu314=)
|
|
|
NM_001232.4(CASQ2):c.942C>T (p.Leu314=)
|
|
|
NM_001232.4(CASQ2):c.960G>A (p.Lys320=)
|
|
|
NM_001232.4(CASQ2):c.963T>C (p.Thr321=)
|
|
|
NM_001232.4(CASQ2):c.966C>T (p.Phe322=)
|
|
|
NM_001232.4(CASQ2):c.972T>C (p.Ile324=)
|
|
|
NM_001232.4(CASQ2):c.97C>A (p.Arg33=)
|
|
|
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
|
|
|
NM_001232.4(CASQ2):c.987A>T (p.Pro329=)
|
|
|
NM_001232.4(CASQ2):c.996G>A (p.Gly332=)
|
|
|
NM_001232.4(CASQ2):c.999G>A (p.Val333=)
|
|
|
NM_001943.5(DSG2):c.1014+11A>G
|
|
|
NM_001943.5(DSG2):c.1014+12G>C
|
|
|
NM_001943.5(DSG2):c.1014+15T>G
|
|
|
NM_001943.5(DSG2):c.1014+17C>T
|
|
|
NM_001943.5(DSG2):c.1014+18A>G
|
|
|
NM_001943.5(DSG2):c.1015-19C>T
|
|
|
NM_001943.5(DSG2):c.1026T>C (p.Tyr342=)
|
|
|
NM_001943.5(DSG2):c.1038G>A (p.Lys346=)
|
rs1555627111
|
|
NM_001943.5(DSG2):c.1047C>T (p.Asp349=)
|
rs1598816361
|
|
NM_001943.5(DSG2):c.1062C>T (p.Val354=)
|
rs369233023
|
|
NM_001943.5(DSG2):c.1095G>A (p.Arg365=)
|
|
|
NM_001943.5(DSG2):c.111G>C (p.Leu37=)
|
rs1568104775
|
|
NM_001943.5(DSG2):c.111G>T (p.Leu37=)
|
|
|
NM_001943.5(DSG2):c.1146G>A (p.Val382=)
|
|
|
NM_001943.5(DSG2):c.1164T>C (p.Phe388=)
|
rs1232189892
|
|
NM_001943.5(DSG2):c.1188T>C (p.Tyr396=)
|
rs751783277
|
|
NM_001943.5(DSG2):c.1206T>C (p.Asp402=)
|
rs2144333016
|
|
NM_001943.5(DSG2):c.1242A>G (p.Gln414=)
|
|
|
NM_001943.5(DSG2):c.1243G>A (p.Ala415Thr)
|
rs746645151
|
|
NM_001943.5(DSG2):c.1245T>C (p.Ala415=)
|
rs2144333101
|
|
NM_001943.5(DSG2):c.1248T>C (p.Phe416=)
|
rs2144333112
|
|
NM_001943.5(DSG2):c.1263A>C (p.Gly421=)
|
|
|
NM_001943.5(DSG2):c.1266A>G (p.Leu422=)
|
rs770359142
|
|
NM_001943.5(DSG2):c.1275T>C (p.His425=)
|
|
|
NM_001943.5(DSG2):c.1280+15C>T
|
|
|
NM_001943.5(DSG2):c.1280+15del
|
|
|
NM_001943.5(DSG2):c.1280+18G>A
|
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.1280+9G>A
|
|
|
NM_001943.5(DSG2):c.1281-16G>A
|
|
|
NM_001943.5(DSG2):c.1281-5G>T
|
rs1280409009
|
|
NM_001943.5(DSG2):c.1281-7A>G
|
rs1598818943
|
|
NM_001943.5(DSG2):c.12C>T (p.Ser4=)
|
|
|
NM_001943.5(DSG2):c.1317T>C (p.Ser439=)
|
rs727505064
|
|
NM_001943.5(DSG2):c.1368A>G (p.Glu456=)
|
|
|
NM_001943.5(DSG2):c.1377T>C (p.Tyr459=)
|
|
|
NM_001943.5(DSG2):c.138G>A (p.Arg46=)
|
|
|
NM_001943.5(DSG2):c.138G>T (p.Arg46=)
|
rs2073117347
|
|
NM_001943.5(DSG2):c.1423+19C>A
|
|
|
NM_001943.5(DSG2):c.1424-10T>C
|
|
|
NM_001943.5(DSG2):c.1424-17T>A
|
|
|
NM_001943.5(DSG2):c.1452A>G (p.Thr484=)
|
rs2144341392
|
|
NM_001943.5(DSG2):c.1455C>T (p.Val485=)
|
rs2073229259
|
|
NM_001943.5(DSG2):c.1515A>C (p.Thr505=)
|
|
|
NM_001943.5(DSG2):c.1539G>C (p.Val513=)
|
rs2144341713
|
|
NM_001943.5(DSG2):c.1548T>C (p.Thr516=)
|
rs2073230585
|
|
NM_001943.5(DSG2):c.1554G>A (p.Glu518=)
|
rs2144341754
|
|
NM_001943.5(DSG2):c.156C>T (p.Ile52=)
|
|
|
NM_001943.5(DSG2):c.1578T>C (p.Ser526=)
|
|
|
NM_001943.5(DSG2):c.159C>A (p.Thr53=)
|
|
|
NM_001943.5(DSG2):c.1617C>A (p.Gly539=)
|
|
|
NM_001943.5(DSG2):c.1617C>T (p.Gly539=)
|
|
|
NM_001943.5(DSG2):c.1623A>G (p.Ala541=)
|
|
|
NM_001943.5(DSG2):c.162C>T (p.Ala54=)
|
rs2144314166
|
|
NM_001943.5(DSG2):c.1652-19C>A
|
rs2073247158
|
|
NM_001943.5(DSG2):c.1652-9A>C
|
rs2144346411
|
|
NM_001943.5(DSG2):c.1686G>A (p.Lys562=)
|
|
|
NM_001943.5(DSG2):c.1737T>C (p.Ser579=)
|
|
|
NM_001943.5(DSG2):c.1752G>A (p.Gln584=)
|
|
|
NM_001943.5(DSG2):c.1755C>G (p.Val585=)
|
rs1273719218
|
|
NM_001943.5(DSG2):c.177G>A (p.Arg59=)
|
rs1568104857
|
|
NM_001943.5(DSG2):c.1809G>A (p.Gln603=)
|
|
|
NM_001943.5(DSG2):c.180G>A (p.Glu60=)
|
|
|
NM_001943.5(DSG2):c.1848G>A (p.Ala616=)
|
rs372349945
|
|
NM_001943.5(DSG2):c.1848G>C (p.Ala616=)
|
rs372349945
|
|
NM_001943.5(DSG2):c.1848G>T (p.Ala616=)
|
rs372349945
|
|
NM_001943.5(DSG2):c.1851C>G (p.Leu617=)
|
|
|
NM_001943.5(DSG2):c.1863C>G (p.Ala621=)
|
rs768150787
|
|
NM_001943.5(DSG2):c.1866T>C (p.Phe622=)
|
rs543940807
|
|
NM_001943.5(DSG2):c.1879+16_1879+26del
|
rs2073249922
|
|
NM_001943.5(DSG2):c.1879+17C>A
|
rs2144347091
|
|
NM_001943.5(DSG2):c.1879+19C>G
|
|
|
NM_001943.5(DSG2):c.1879+19C>T
|
|
|
NM_001943.5(DSG2):c.1880-10G>A
|
rs2144350506
|
|
NM_001943.5(DSG2):c.1880-14T>G
|
|
|
NM_001943.5(DSG2):c.18A>T (p.Gly6=)
|
|
|
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
|
rs2073265410
|
|
NM_001943.5(DSG2):c.1935C>A (p.Thr645=)
|
|
|
NM_001943.5(DSG2):c.195C>T (p.Ser65=)
|
rs2144314326
|
|
NM_001943.5(DSG2):c.1983A>C (p.Gly661=)
|
rs1419115728
|
|
NM_001943.5(DSG2):c.1986A>G (p.Ala662=)
|
rs1598823030
|
|
NM_001943.5(DSG2):c.1992T>C (p.Pro664=)
|
|
|
NM_001943.5(DSG2):c.1995A>G (p.Glu665=)
|
rs2144350890
|
|
NM_001943.5(DSG2):c.1998C>T (p.Asp666=)
|
rs1012080257
|
|
NM_001943.5(DSG2):c.2001+20A>C
|
|
|
NM_001943.5(DSG2):c.2001+9A>G
|
rs770547224
|
|
NM_001943.5(DSG2):c.2002-7C>G
|
rs1415718078
|
|
NM_001943.5(DSG2):c.2004G>T (p.Val668=)
|
|
|
NM_001943.5(DSG2):c.2007G>A (p.Val669=)
|
rs2073274655
|
|
NM_001943.5(DSG2):c.2040T>C (p.Ser680=)
|
|
|
NM_001943.5(DSG2):c.2085G>C (p.Thr695=)
|
rs554396523
|
|
NM_001943.5(DSG2):c.210T>C (p.Ile70=)
|
rs202202636
|
|
NM_001943.5(DSG2):c.2115C>G (p.Val705=)
|
rs533874164
|
|
NM_001943.5(DSG2):c.2124A>G (p.Gln708=)
|
|
|
NM_001943.5(DSG2):c.2127T>C (p.His709=)
|
rs876657457
|
|
NM_001943.5(DSG2):c.216+19C>A
|
|
|
NM_001943.5(DSG2):c.216+20A>G
|
|
|
NM_001943.5(DSG2):c.2163C>T (p.His721=)
|
|
|
NM_001943.5(DSG2):c.2169C>T (p.Ser723=)
|
rs2073276369
|
|
NM_001943.5(DSG2):c.217-19C>T
|
|
|
NM_001943.5(DSG2):c.217-7A>G
|
rs755415569
|
|
NM_001943.5(DSG2):c.217-7_217-6del
|
|
|
NM_001943.5(DSG2):c.2172G>A (p.Leu724=)
|
rs1230504092
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
NM_001943.5(DSG2):c.2181T>C (p.Gly727=)
|
|
|
NM_001943.5(DSG2):c.2235G>A (p.Thr745=)
|
rs759572082
|
|
NM_001943.5(DSG2):c.2235G>T (p.Thr745=)
|
|
|
NM_001943.5(DSG2):c.2241C>A (p.Thr747=)
|
|
|
NM_001943.5(DSG2):c.2268C>T (p.Asp756=)
|
|
|
NM_001943.5(DSG2):c.2289T>C (p.Ala763=)
|
rs2144353689
|
|
NM_001943.5(DSG2):c.228T>C (p.Asp76=)
|
|
|
NM_001943.5(DSG2):c.2295T>G (p.Val765=)
|
rs2144353723
|
|
NM_001943.5(DSG2):c.2298A>C (p.Ala766=)
|
rs2144353732
|
|
NM_001943.5(DSG2):c.2298A>T (p.Ala766=)
|
|
|
NM_001943.5(DSG2):c.2325T>C (p.Tyr775=)
|
|
|
NM_001943.5(DSG2):c.2334+10_2334+11del
|
|
|
NM_001943.5(DSG2):c.2334+11G>A
|
|
|
NM_001943.5(DSG2):c.2334+8T>A
|
|
|
NM_001943.5(DSG2):c.2334+8T>C
|
rs2144353870
|
|
NM_001943.5(DSG2):c.2335-12_2335-8dup
|
rs1338727178
|
|
NM_001943.5(DSG2):c.2335-19T>C
|
|
|
NM_001943.5(DSG2):c.2335-7A>C
|
rs528851283
|
|
NM_001943.5(DSG2):c.2340G>A (p.Ala780=)
|
rs375539435
|
|
NM_001943.5(DSG2):c.2343C>G (p.Ala781=)
|
|
|
NM_001943.5(DSG2):c.2361T>C (p.Asp787=)
|
rs1486707230
|
|
NM_001943.5(DSG2):c.2373A>G (p.Thr791=)
|
rs2073300563
|
|
NM_001943.5(DSG2):c.2376C>G (p.Ala792=)
|
|
|
NM_001943.5(DSG2):c.2382T>C (p.Asp794=)
|
rs2144358730
|
|
NM_001943.5(DSG2):c.2415A>G (p.Glu805=)
|
|
|
NM_001943.5(DSG2):c.2418G>T (p.Ser806=)
|
rs751831001
|
|
NM_001943.5(DSG2):c.2419C>T (p.Leu807=)
|
rs201416898
|
|
NM_001943.5(DSG2):c.2430T>C (p.Ser810=)
|
rs781616050
|
|
NM_001943.5(DSG2):c.2472C>T (p.Arg824=)
|
rs2073302212
|
|
NM_001943.5(DSG2):c.2592C>T (p.Asn864=)
|
|
|
NM_001943.5(DSG2):c.2619A>G (p.Gln873=)
|
rs757120095
|
|
NM_001943.5(DSG2):c.267C>T (p.Tyr89=)
|
|
|
NM_001943.5(DSG2):c.2712G>A (p.Gln904=)
|
rs779837813
|
|
NM_001943.5(DSG2):c.2730A>G (p.Arg910=)
|
|
|
NM_001943.5(DSG2):c.2739T>A (p.Ser913=)
|
rs2144360064
|
|
NM_001943.5(DSG2):c.2766A>C (p.Thr922=)
|
rs1347885484
|
|
NM_001943.5(DSG2):c.2799G>T (p.Val933=)
|
|
|
NM_001943.5(DSG2):c.2826A>G (p.Thr942=)
|
rs2073307712
|
|
NM_001943.5(DSG2):c.2856C>T (p.Ile952=)
|
|
|
NM_001943.5(DSG2):c.2868C>T (p.Ser956=)
|
rs2144360449
|
|
NM_001943.5(DSG2):c.2898G>A (p.Arg966=)
|
rs746543384
|
|
NM_001943.5(DSG2):c.2919C>G (p.Thr973=)
|
|
|
NM_001943.5(DSG2):c.291A>C (p.Pro97=)
|
rs727502983
|
|
NM_001943.5(DSG2):c.2949T>G (p.Gly983=)
|
rs921097993
|
|
NM_001943.5(DSG2):c.2955T>C (p.Val985=)
|
|
|
NM_001943.5(DSG2):c.2958G>A (p.Val986=)
|
|
|
NM_001943.5(DSG2):c.2979G>A (p.Gln993=)
|
|
|
NM_001943.5(DSG2):c.2985T>C (p.His995=)
|
|
|
NM_001943.5(DSG2):c.2988G>C (p.Gly996=)
|
rs1322460685
|
|
NM_001943.5(DSG2):c.2988G>T (p.Gly996=)
|
|
|
NM_001943.5(DSG2):c.3004C>T (p.Leu1002=)
|
rs377658424
|
|
NM_001943.5(DSG2):c.3009A>G (p.Glu1003=)
|
rs2144361036
|
|
NM_001943.5(DSG2):c.3030T>C (p.Asp1010=)
|
|
|
NM_001943.5(DSG2):c.3033A>G (p.Val1011=)
|
rs2144361116
|
|
NM_001943.5(DSG2):c.3048G>A (p.Val1016=)
|
|
|
NM_001943.5(DSG2):c.3066C>T (p.Phe1022=)
|
|
|
NM_001943.5(DSG2):c.30C>A (p.Ala10=)
|
rs1568098547
|
|
NM_001943.5(DSG2):c.3138G>T (p.Val1046=)
|
rs2144361501
|
|
NM_001943.5(DSG2):c.3147A>G (p.Arg1049=)
|
rs973445903
|
|
NM_001943.5(DSG2):c.3165C>T (p.Ser1055=)
|
rs2144361600
|
|
NM_001943.5(DSG2):c.3174A>G (p.Gln1058=)
|
rs2073312645
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=)
|
rs727504601
|
|
NM_001943.5(DSG2):c.3210G>T (p.Thr1070=)
|
rs771104963
|
|
NM_001943.5(DSG2):c.3222C>T (p.Thr1074=)
|
|
|
NM_001943.5(DSG2):c.3281G>T (p.Gly1094Val)
|
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
NM_001943.5(DSG2):c.3294T>C (p.Ser1098=)
|
|
|
NM_001943.5(DSG2):c.3297C>T (p.Thr1099=)
|
|
|
NM_001943.5(DSG2):c.3306A>G (p.Thr1102=)
|
rs747930194
|
|
NM_001943.5(DSG2):c.3306A>T (p.Thr1102=)
|
|
|
NM_001943.5(DSG2):c.3315C>G (p.Thr1105=)
|
|
|
NM_001943.5(DSG2):c.3330T>C (p.His1110=)
|
|
|
NM_001943.5(DSG2):c.3333C>T (p.Ser1111=)
|
|
|
NM_001943.5(DSG2):c.3336T>A (p.Thr1112=)
|
|
|
NM_001943.5(DSG2):c.3336T>G (p.Thr1112=)
|
rs1555628388
|
|
NM_001943.5(DSG2):c.33G>C (p.Leu11=)
|
|
|
NM_001943.5(DSG2):c.369A>G (p.Pro123=)
|
rs2144315797
|
|
NM_001943.5(DSG2):c.36G>C (p.Leu12=)
|
|
|
NM_001943.5(DSG2):c.378+16T>C
|
|
|
NM_001943.5(DSG2):c.378+8_378+10del
|
rs2144315812
|
|
NM_001943.5(DSG2):c.379-10A>G
|
|
|
NM_001943.5(DSG2):c.379-18T>C
|
|
|
NM_001943.5(DSG2):c.379-20T>A
|
|
|
NM_001943.5(DSG2):c.379-22_379-18del
|
rs1598810622
|
|
NM_001943.5(DSG2):c.379-6T>C
|
|
|
NM_001943.5(DSG2):c.384A>G (p.Thr128=)
|
rs561929524
|
|
NM_001943.5(DSG2):c.39T>G (p.Leu13=)
|
|
|
NM_001943.5(DSG2):c.426C>A (p.Pro142=)
|
|
|
NM_001943.5(DSG2):c.426C>T (p.Pro142=)
|
rs772873493
|
|
NM_001943.5(DSG2):c.429A>G (p.Leu143=)
|
|
|
NM_001943.5(DSG2):c.42C>T (p.Leu14=)
|
rs1555669691
|
|
NM_001943.5(DSG2):c.435A>G (p.Leu145=)
|
rs2073125482
|
|
NM_001943.5(DSG2):c.444G>A (p.Lys148=)
|
rs935833101
|
|
NM_001943.5(DSG2):c.45+10G>A
|
rs776975980
|
|
NM_001943.5(DSG2):c.45+10G>T
|
rs776975980
|
|
NM_001943.5(DSG2):c.45+15del
|
|
|
NM_001943.5(DSG2):c.45+18G>A
|
|
|
NM_001943.5(DSG2):c.45+8C>T
|
|
|
NM_001943.5(DSG2):c.45+9C>T
|
rs376573409
|
|
NM_001943.5(DSG2):c.456C>T (p.Ile152=)
|
rs2144316237
|
|
NM_001943.5(DSG2):c.46-12T>A
|
|
|
NM_001943.5(DSG2):c.46-14A>C
|
|
|
NM_001943.5(DSG2):c.46-20C>G
|
|
|
NM_001943.5(DSG2):c.46-9A>G
|
rs2144311516
|
|
NM_001943.5(DSG2):c.468A>G (p.Glu156=)
|
|
|
NM_001943.5(DSG2):c.471A>G (p.Pro157=)
|
|
|
NM_001943.5(DSG2):c.486T>A (p.Asp162Glu)
|
rs756239722
|
|
NM_001943.5(DSG2):c.486T>C (p.Asp162=)
|
|
|
NM_001943.5(DSG2):c.492T>C (p.Phe164=)
|
|
|
NM_001943.5(DSG2):c.498G>A (p.Gly166=)
|
|
|
NM_001943.5(DSG2):c.501T>C (p.Ser167=)
|
rs2144316408
|
|
NM_001943.5(DSG2):c.523+19T>A
|
|
|
NM_001943.5(DSG2):c.523+8T>C
|
|
|
NM_001943.5(DSG2):c.523+9del
|
|
|
NM_001943.5(DSG2):c.524-13T>C
|
|
|
NM_001943.5(DSG2):c.524-16T>G
|
|
|
NM_001943.5(DSG2):c.524-18C>T
|
|
|
NM_001943.5(DSG2):c.524-20A>G
|
|
|
NM_001943.5(DSG2):c.524-4C>T
|
|
|
NM_001943.5(DSG2):c.524-8A>C
|
|
|
NM_001943.5(DSG2):c.540A>G (p.Lys180=)
|
|
|
NM_001943.5(DSG2):c.558A>G (p.Ala186=)
|
|
|
NM_001943.5(DSG2):c.573C>G (p.Thr191=)
|
rs769514389
|
|
NM_001943.5(DSG2):c.576G>C (p.Leu192=)
|
|
|
NM_001943.5(DSG2):c.600C>T (p.Ile200=)
|
|
|
NM_001943.5(DSG2):c.603A>G (p.Val201=)
|
|
|
NM_001943.5(DSG2):c.607C>T (p.Leu203=)
|
|
|
NM_001943.5(DSG2):c.60T>C (p.Val20=)
|
rs1173265371
|
|
NM_001943.5(DSG2):c.618T>A (p.Ala206=)
|
rs397516710
|
|
NM_001943.5(DSG2):c.621T>C (p.Tyr207=)
|
rs2144317974
|
|
NM_001943.5(DSG2):c.624T>A (p.Pro208=)
|
rs1275487240
|
|
NM_001943.5(DSG2):c.630G>A (p.Val210=)
|
|
|
NM_001943.5(DSG2):c.678C>G (p.Thr226=)
|
|
|
NM_001943.5(DSG2):c.681G>A (p.Leu227=)
|
|
|
NM_001943.5(DSG2):c.690+14T>C
|
rs2144318223
|
|
NM_001943.5(DSG2):c.690+17T>C
|
|
|
NM_001943.5(DSG2):c.690+8A>G
|
rs755863179
|
|
NM_001943.5(DSG2):c.691-12A>G
|
|
|
NM_001943.5(DSG2):c.691-7_691-3del
|
rs757242261
|
|
NM_001943.5(DSG2):c.691-8C>T
|
rs2144321935
|
|
NM_001943.5(DSG2):c.696C>T (p.His232=)
|
|
|
NM_001943.5(DSG2):c.759A>G (p.Val253=)
|
|
|
NM_001943.5(DSG2):c.76T>C (p.Leu26=)
|
|
|
NM_001943.5(DSG2):c.78A>G (p.Leu26=)
|
rs2073105327
|
|
NM_001943.5(DSG2):c.81+10C>G
|
|
|
NM_001943.5(DSG2):c.81+13A>G
|
|
|
NM_001943.5(DSG2):c.81+14G>A
|
|
|
NM_001943.5(DSG2):c.81+15G>A
|
|
|
NM_001943.5(DSG2):c.81+8_81+9insGGC
|
|
|
NM_001943.5(DSG2):c.81+9A>G
|
|
|
NM_001943.5(DSG2):c.813A>T (p.Val271=)
|
|
|
NM_001943.5(DSG2):c.816A>G (p.Val272=)
|
|
|
NM_001943.5(DSG2):c.82-12C>T
|
|
|
NM_001943.5(DSG2):c.82-13T>G
|
|
|
NM_001943.5(DSG2):c.82-4A>G
|
rs1332379061
|
|
NM_001943.5(DSG2):c.82-8T>C
|
rs2144313844
|
|
NM_001943.5(DSG2):c.828+10A>C
|
rs886053712
|
|
NM_001943.5(DSG2):c.828+10A>G
|
|
|
NM_001943.5(DSG2):c.828+10_828+12del
|
|
|
NM_001943.5(DSG2):c.828+13C>A
|
rs180926981
|
|
NM_001943.5(DSG2):c.828+13C>T
|
rs180926981
|
|
NM_001943.5(DSG2):c.828+14T>C
|
|
|
NM_001943.5(DSG2):c.828+16C>G
|
|
|
NM_001943.5(DSG2):c.828+20_828+21del
|
|
|
NM_001943.5(DSG2):c.828+20_828+22del
|
rs1568106673
|
|
NM_001943.5(DSG2):c.828+7A>G
|
|
|
NM_001943.5(DSG2):c.829-18dup
|
|
|
NM_001943.5(DSG2):c.829-19A>G
|
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
NM_001943.5(DSG2):c.834A>G (p.Glu278=)
|
rs2073150921
|
|
NM_001943.5(DSG2):c.846A>G (p.Glu282=)
|
rs752126487
|
|
NM_001943.5(DSG2):c.864A>T (p.Val288=)
|
|
|
NM_001943.5(DSG2):c.873G>C (p.Thr291=)
|
|
|
NM_001943.5(DSG2):c.876_877inv (p.Ile293Val)
|
|
|
NM_001943.5(DSG2):c.879A>T (p.Ile293=)
|
|
|
NM_001943.5(DSG2):c.885G>A (p.Val295=)
|
rs534674777
|
|
NM_001943.5(DSG2):c.885G>T (p.Val295=)
|
|
|
NM_001943.5(DSG2):c.888C>T (p.Phe296=)
|
rs975297970
|
|
NM_001943.5(DSG2):c.891T>C (p.Asp297=)
|
rs1412667083
|
|
NM_001943.5(DSG2):c.90C>T (p.Ser30=)
|
rs2144313897
|
|
NM_001943.5(DSG2):c.915T>C (p.Asn305=)
|
rs1484918582
|
|
NM_001943.5(DSG2):c.921G>A (p.Leu307=)
|
|
|
NM_001943.5(DSG2):c.939A>G (p.Ala313=)
|
|
|
NM_001943.5(DSG2):c.966C>T (p.His322=)
|
|
|
NM_002230.4(JUP):c.1012C>T (p.Leu338=)
|
|
|
NM_002230.4(JUP):c.1029C>T (p.Ser343=)
|
rs2143597754
|
|
NM_002230.4(JUP):c.1035G>A (p.Lys345=)
|
|
|
NM_002230.4(JUP):c.1054+11T>C
|
|
|
NM_002230.4(JUP):c.1054+14C>T
|
|
|
NM_002230.4(JUP):c.1054+15C>T
|
|
|
NM_002230.4(JUP):c.1054+18G>A
|
rs782112631
|
|
NM_002230.4(JUP):c.1054+8T>C
|
rs2143596868
|
|
NM_002230.4(JUP):c.1055-11C>A
|
|
|
NM_002230.4(JUP):c.1055-11C>G
|
|
|
NM_002230.4(JUP):c.1055-16C>T
|
|
|
NM_002230.4(JUP):c.1055-4C>A
|
|
|
NM_002230.4(JUP):c.1068C>G (p.Ala356=)
|
rs1915436816
|
|
NM_002230.4(JUP):c.1092C>T (p.Asn364=)
|
rs1555603222
|
|
NM_002230.4(JUP):c.1107G>A (p.Val369=)
|
|
|
NM_002230.4(JUP):c.111C>T (p.Val37=)
|
rs2143735905
|
|
NM_002230.4(JUP):c.1146G>A (p.Val382=)
|
rs782620083
|
|
NM_002230.4(JUP):c.1158+11T>C
|
|
|
NM_002230.4(JUP):c.1158+14C>T
|
rs2143591414
|
|
NM_002230.4(JUP):c.1158+16G>T
|
|
|
NM_002230.4(JUP):c.1158+17G>A
|
|
|
NM_002230.4(JUP):c.1158+20C>G
|
|
|
NM_002230.4(JUP):c.1159-10T>C
|
|
|
NM_002230.4(JUP):c.1159-11T>C
|
rs1555602490
|
|
NM_002230.4(JUP):c.1159-13C>T
|
rs201627219
|
|
NM_002230.4(JUP):c.1159-7C>T
|
rs2143566266
|
|
NM_002230.4(JUP):c.1159-8C>A
|
|
|
NM_002230.4(JUP):c.1159-8C>T
|
rs1457861232
|
|
NM_002230.4(JUP):c.1170G>T (p.Glu390Asp)
|
|
|
NM_002230.4(JUP):c.1173T>C (p.Ser391=)
|
|
|
NM_002230.4(JUP):c.1179G>A (p.Leu393=)
|
|
|
NM_002230.4(JUP):c.1212C>T (p.Asp404=)
|
rs1482026041
|
|
NM_002230.4(JUP):c.1215C>A (p.Val405=)
|
|
|
NM_002230.4(JUP):c.1236G>C (p.Thr412=)
|
|
|
NM_002230.4(JUP):c.1248C>T (p.Ser416=)
|
|
|
NM_002230.4(JUP):c.1269C>T (p.Ser423=)
|
|
|
NM_002230.4(JUP):c.1281G>A (p.Thr427=)
|
rs373544304
|
|
NM_002230.4(JUP):c.1281G>T (p.Thr427=)
|
rs373544304
|
|
NM_002230.4(JUP):c.1326C>T (p.Ile442=)
|
rs2143562604
|
|
NM_002230.4(JUP):c.132G>A (p.Glu44=)
|
|
|
NM_002230.4(JUP):c.1386C>T (p.Leu462=)
|
|
|
NM_002230.4(JUP):c.1389T>C (p.Thr463=)
|
|
|
NM_002230.4(JUP):c.1395C>T (p.Arg465=)
|
|
|
NM_002230.4(JUP):c.1404G>A (p.Glu468=)
|
|
|
NM_002230.4(JUP):c.1431T>A (p.Arg477=)
|
|
|
NM_002230.4(JUP):c.1431T>C (p.Arg477=)
|
|
|
NM_002230.4(JUP):c.1434C>A (p.Leu478=)
|
rs1597801519
|
|
NM_002230.4(JUP):c.1440T>C (p.Tyr480=)
|
|
|
NM_002230.4(JUP):c.1446C>T (p.Ile482=)
|
rs1456308434
|
|
NM_002230.4(JUP):c.147C>T (p.Cys49=)
|
rs200001999
|
|
NM_002230.4(JUP):c.1488A>G (p.Pro496=)
|
rs1285508373
|
|
NM_002230.4(JUP):c.1497+14G>A
|
rs371853838
|
|
NM_002230.4(JUP):c.1497+16G>A
|
|
|
NM_002230.4(JUP):c.1497+16G>C
|
|
|
NM_002230.4(JUP):c.1498-10T>C
|
|
|
NM_002230.4(JUP):c.1498-15C>A
|
|
|
NM_002230.4(JUP):c.1498-16C>T
|
|
|
NM_002230.4(JUP):c.1498-20A>G
|
|
|
NM_002230.4(JUP):c.1498-5G>C
|
|
|
NM_002230.4(JUP):c.1503C>A (p.Thr501=)
|
|
|
NM_002230.4(JUP):c.1503C>T (p.Thr501=)
|
|
|
NM_002230.4(JUP):c.1509C>T (p.Gly503=)
|
rs782445315
|
|
NM_002230.4(JUP):c.1518G>A (p.Arg506=)
|
|
|
NM_002230.4(JUP):c.1527C>T (p.Ala509=)
|
rs2143460490
|
|
NM_002230.4(JUP):c.1528C>T (p.Leu510=)
|
rs782136684
|
|
NM_002230.4(JUP):c.1536A>G (p.Pro512=)
|
|
|
NM_002230.4(JUP):c.1548C>G (p.Ala516=)
|
|
|
NM_002230.4(JUP):c.1548C>T (p.Ala516=)
|
|
|
NM_002230.4(JUP):c.1551G>T (p.Pro517=)
|
|
|
NM_002230.4(JUP):c.156G>A (p.Gln52=)
|
rs1916673290
|
|
NM_002230.4(JUP):c.1578C>T (p.Arg526=)
|
|
|
NM_002230.4(JUP):c.1581C>T (p.Leu527=)
|
rs1555599788
|
|
NM_002230.4(JUP):c.1587A>G (p.Gln529=)
|
rs886052919
|
|
NM_002230.4(JUP):c.1588C>T (p.Leu530=)
|
|
|
NM_002230.4(JUP):c.1605C>T (p.His535=)
|
|
|
NM_002230.4(JUP):c.162G>T (p.Thr54=)
|
|
|
NM_002230.4(JUP):c.1638A>G (p.Thr546=)
|
|
|
NM_002230.4(JUP):c.1641G>A (p.Gln547=)
|
rs1555599694
|
|
NM_002230.4(JUP):c.1653+12G>A
|
rs1049591642
|
|
NM_002230.4(JUP):c.1653+16G>A
|
|
|
NM_002230.4(JUP):c.1653+7G>A
|
rs1555599671
|
|
NM_002230.4(JUP):c.1653+9G>A
|
|
|
NM_002230.4(JUP):c.1654-7C>A
|
rs1395283149
|
|
NM_002230.4(JUP):c.1671G>A (p.Glu557=)
|
|
|
NM_002230.4(JUP):c.1692C>G (p.Thr564=)
|
|
|
NM_002230.4(JUP):c.1695A>G (p.Gly565=)
|
|
|
NM_002230.4(JUP):c.1713C>A (p.Ala571=)
|
|
|
NM_002230.4(JUP):c.1713C>T (p.Ala571=)
|
|
|
NM_002230.4(JUP):c.1722C>A (p.Pro574=)
|
rs1016855983
|
|
NM_002230.4(JUP):c.1722C>G (p.Pro574=)
|
rs1016855983
|
|
NM_002230.4(JUP):c.1722C>T (p.Pro574=)
|
rs1016855983
|
|
NM_002230.4(JUP):c.1743C>T (p.Phe581=)
|
|
|
NM_002230.4(JUP):c.1746G>A (p.Arg582=)
|
|
|
NM_002230.4(JUP):c.1749C>T (p.Leu583=)
|
|
|
NM_002230.4(JUP):c.174C>T (p.Thr58=)
|
|
|
NM_002230.4(JUP):c.1764G>A (p.Leu588=)
|
|
|
NM_002230.4(JUP):c.1764G>T (p.Leu588=)
|
rs541032494
|
|
NM_002230.4(JUP):c.1773+19G>A
|
|
|
NM_002230.4(JUP):c.1774-15G>A
|
|
|
NM_002230.4(JUP):c.1774-17A>C
|
|
|
NM_002230.4(JUP):c.1774-4C>T
|
|
|
NM_002230.4(JUP):c.1774-5C>G
|
rs1555599040
|
|
NM_002230.4(JUP):c.1777C>T (p.Leu593=)
|
|
|
NM_002230.4(JUP):c.1779G>A (p.Leu593=)
|
|
|
NM_002230.4(JUP):c.177C>G (p.Thr59=)
|
|
|
NM_002230.4(JUP):c.177C>T (p.Thr59=)
|
|
|
NM_002230.4(JUP):c.1785G>C (p.Ser595=)
|
|
|
NM_002230.4(JUP):c.1788G>A (p.Ser596=)
|
|
|
NM_002230.4(JUP):c.1815C>G (p.Ala605=)
|
|
|
NM_002230.4(JUP):c.1824G>A (p.Leu608=)
|
rs376043057
|
|
NM_002230.4(JUP):c.1830G>A (p.Glu610=)
|
|
|
NM_002230.4(JUP):c.1854C>G (p.Ala618=)
|
rs782176670
|
|
NM_002230.4(JUP):c.186C>T (p.Thr62=)
|
|
|
NM_002230.4(JUP):c.1878C>T (p.Ala626=)
|
|
|
NM_002230.4(JUP):c.1890C>T (p.Leu630=)
|
|
|
NM_002230.4(JUP):c.1924+11G>A
|
|
|
NM_002230.4(JUP):c.1924+16G>T
|
|
|
NM_002230.4(JUP):c.1924+7T>C
|
|
|
NM_002230.4(JUP):c.1924+8G>T
|
rs730880115
|
|
NM_002230.4(JUP):c.1925-12C>T
|
|
|
NM_002230.4(JUP):c.1925-16T>C
|
|
|
NM_002230.4(JUP):c.1925-17C>T
|
rs1555598762
|
|
NM_002230.4(JUP):c.1925-8C>T
|
rs2143420758
|
|
NM_002230.4(JUP):c.1925-9T>A
|
rs2143420829
|
|
NM_002230.4(JUP):c.1929C>G (p.Thr643=)
|
rs1555598746
|
|
NM_002230.4(JUP):c.192G>T (p.Gly64=)
|
|
|
NM_002230.4(JUP):c.1938T>C (p.Ala646=)
|
rs2143420014
|
|
NM_002230.4(JUP):c.1944C>G (p.Val648=)
|
|
|
NM_002230.4(JUP):c.1974A>G (p.Pro658=)
|
rs782733127
|
|
NM_002230.4(JUP):c.1989C>G (p.Arg663=)
|
|
|
NM_002230.4(JUP):c.2016C>T (p.Leu672=)
|
|
|
NM_002230.4(JUP):c.2019C>T (p.Phe673=)
|
|
|
NM_002230.4(JUP):c.2022G>A (p.Lys674=)
|
rs1914011102
|
|
NM_002230.4(JUP):c.2028C>T (p.Asp676=)
|
|
|
NM_002230.4(JUP):c.2046+10C>T
|
|
|
NM_002230.4(JUP):c.2046+15T>G
|
|
|
NM_002230.4(JUP):c.2046+19A>G
|
|
|
NM_002230.4(JUP):c.2046+7A>T
|
|
|
NM_002230.4(JUP):c.2046T>A (p.Ala682=)
|
rs782632671
|
|
NM_002230.4(JUP):c.2047-11T>C
|
|
|
NM_002230.4(JUP):c.2047-14C>T
|
rs116666639
|
|
NM_002230.4(JUP):c.2047-17TC[3]
|
|
|
NM_002230.4(JUP):c.2055C>T (p.Ser685=)
|
rs1913708075
|
|
NM_002230.4(JUP):c.2073G>A (p.Glu691=)
|
|
|
NM_002230.4(JUP):c.2079T>C (p.Tyr693=)
|
rs1555597744
|
|
NM_002230.4(JUP):c.208+10C>T
|
|
|
NM_002230.4(JUP):c.208+11C>T
|
rs2143733221
|
|
NM_002230.4(JUP):c.208+14G>A
|
|
|
NM_002230.4(JUP):c.208+15G>A
|
|
|
NM_002230.4(JUP):c.208+7A>G
|
|
|
NM_002230.4(JUP):c.2086+19C>T
|
|
|
NM_002230.4(JUP):c.2086+8_2086+11del
|
|
|
NM_002230.4(JUP):c.2087-17C>T
|
|
|
NM_002230.4(JUP):c.2087-19C>A
|
rs1913635624
|
|
NM_002230.4(JUP):c.2087-8G>A
|
|
|
NM_002230.4(JUP):c.2087-9_2087-8delinsCT
|
rs2143375848
|
|
NM_002230.4(JUP):c.209-13C>T
|
|
|
NM_002230.4(JUP):c.209-14C>A
|
|
|
NM_002230.4(JUP):c.209-16T>C
|
|
|
NM_002230.4(JUP):c.209-17G>T
|
|
|
NM_002230.4(JUP):c.209-18T>C
|
|
|
NM_002230.4(JUP):c.209-4C>G
|
rs1555605999
|
|
NM_002230.4(JUP):c.2100C>G (p.Thr700=)
|
|
|
NM_002230.4(JUP):c.2130C>A (p.Pro710=)
|
rs2143374346
|
|
NM_002230.4(JUP):c.2139G>A (p.Pro713=)
|
rs782165431
|
|
NM_002230.4(JUP):c.2145G>A (p.Glu715=)
|
|
|
NM_002230.4(JUP):c.2175C>T (p.Pro725=)
|
|
|
NM_002230.4(JUP):c.2190C>T (p.Ser730=)
|
|
|
NM_002230.4(JUP):c.2208G>T (p.Pro736=)
|
rs371508357
|
|
NM_002230.4(JUP):c.2211C>T (p.Tyr737=)
|
rs2143370644
|
|
NM_002230.4(JUP):c.2214C>A (p.Pro738=)
|
rs781848758
|
|
NM_002230.4(JUP):c.2214C>T (p.Pro738=)
|
|
|
NM_002230.4(JUP):c.2220A>G (p.Ala740=)
|
rs142102308
|
|
NM_002230.4(JUP):c.2238G>A (p.Ter746=)
|
|
|
NM_002230.4(JUP):c.240C>T (p.Ala80=)
|
rs782139792
|
|
NM_002230.4(JUP):c.261G>A (p.Glu87=)
|
|
|
NM_002230.4(JUP):c.279G>A (p.Val93=)
|
rs1208581123
|
|
NM_002230.4(JUP):c.294C>T (p.Ser98=)
|
rs2143696152
|
|
NM_002230.4(JUP):c.312C>G (p.Thr104=)
|
rs2143695686
|
|
NM_002230.4(JUP):c.315G>A (p.Gln105=)
|
rs375489362
|
|
NM_002230.4(JUP):c.318G>T (p.Val106=)
|
|
|
NM_002230.4(JUP):c.337C>T (p.Leu113=)
|
|
|
NM_002230.4(JUP):c.33C>T (p.Ile11=)
|
rs2143738156
|
|
NM_002230.4(JUP):c.351C>G (p.Ala117=)
|
rs397517300
|
|
NM_002230.4(JUP):c.357G>T (p.Pro119=)
|
rs782579395
|
|
NM_002230.4(JUP):c.372G>A (p.Lys124=)
|
|
|
NM_002230.4(JUP):c.375G>A (p.Ser125=)
|
rs111344340
|
|
NM_002230.4(JUP):c.375G>C (p.Ser125=)
|
rs111344340
|
|
NM_002230.4(JUP):c.381T>C (p.Ile127=)
|
|
|
NM_002230.4(JUP):c.390C>G (p.Leu130=)
|
rs1555605734
|
|
NM_002230.4(JUP):c.396C>T (p.Asn132=)
|
rs782797349
|
|
NM_002230.4(JUP):c.408T>C (p.Asp136=)
|
|
|
NM_002230.4(JUP):c.417G>A (p.Leu139=)
|
|
|
NM_002230.4(JUP):c.426C>A (p.Arg142=)
|
|
|
NM_002230.4(JUP):c.433C>T (p.Pro145Ser)
|
|
|
NM_002230.4(JUP):c.441C>T (p.Leu147=)
|
|
|
NM_002230.4(JUP):c.453C>G (p.Leu151=)
|
|
|
NM_002230.4(JUP):c.456C>T (p.Asn152=)
|
rs781907298
|
|
NM_002230.4(JUP):c.468+12T>C
|
|
|
NM_002230.4(JUP):c.468+18C>G
|
|
|
NM_002230.4(JUP):c.468+19T>G
|
rs2143690687
|
|
NM_002230.4(JUP):c.468+7G>A
|
rs1916226554
|
|
NM_002230.4(JUP):c.468+8A>G
|
|
|
NM_002230.4(JUP):c.469-13dup
|
|
|
NM_002230.4(JUP):c.469-18C>T
|
|
|
NM_002230.4(JUP):c.469-20C>A
|
|
|
NM_002230.4(JUP):c.483G>A (p.Lys161=)
|
|
|
NM_002230.4(JUP):c.486G>T (p.Ala162=)
|
|
|
NM_002230.4(JUP):c.489C>T (p.Ala163=)
|
|
|
NM_002230.4(JUP):c.501C>T (p.Asn167=)
|
|
|
NM_002230.4(JUP):c.504G>A (p.Gln168=)
|
|
|
NM_002230.4(JUP):c.537G>A (p.Leu179=)
|
|
|
NM_002230.4(JUP):c.549C>G (p.Pro183=)
|
rs112787493
|
|
NM_002230.4(JUP):c.555G>A (p.Leu185=)
|
rs1555605299
|
|
NM_002230.4(JUP):c.564T>C (p.Ala188=)
|
|
|
NM_002230.4(JUP):c.57A>G (p.Thr19=)
|
|
|
NM_002230.4(JUP):c.588C>T (p.Thr196=)
|
rs1597823864
|
|
NM_002230.4(JUP):c.597G>A (p.Leu199=)
|
rs2143682126
|
|
NM_002230.4(JUP):c.60C>T (p.Tyr20=)
|
|
|
NM_002230.4(JUP):c.639C>T (p.Ser213=)
|
rs782266138
|
|
NM_002230.4(JUP):c.642C>T (p.His214=)
|
rs2143681143
|
|
NM_002230.4(JUP):c.648G>A (p.Arg216=)
|
|
|
NM_002230.4(JUP):c.655C>T (p.Leu219=)
|
|
|
NM_002230.4(JUP):c.657G>A (p.Leu219=)
|
|
|
NM_002230.4(JUP):c.660C>G (p.Leu220=)
|
|
|
NM_002230.4(JUP):c.669C>T (p.Phe223=)
|
|
|
NM_002230.4(JUP):c.707+12T>C
|
rs782282188
|
|
NM_002230.4(JUP):c.707+19T>G
|
|
|
NM_002230.4(JUP):c.707+20G>T
|
|
|
NM_002230.4(JUP):c.707+9C>G
|
rs561653700
|
|
NM_002230.4(JUP):c.708-11C>T
|
|
|
NM_002230.4(JUP):c.708-13C>A
|
|
|
NM_002230.4(JUP):c.708-20dup
|
|
|
NM_002230.4(JUP):c.708-22_708-19del
|
|
|
NM_002230.4(JUP):c.708-3dup
|
rs782230165
|
|
NM_002230.4(JUP):c.708-6C>T
|
rs782704213
|
|
NM_002230.4(JUP):c.708-8C>T
|
|
|
NM_002230.4(JUP):c.708-9C>A
|
rs1915931667
|
|
NM_002230.4(JUP):c.708-9C>T
|
rs1915931667
|
|
NM_002230.4(JUP):c.726C>T (p.Val242=)
|
rs2143652970
|
|
NM_002230.4(JUP):c.729G>A (p.Leu243=)
|
rs2143652897
|
|
NM_002230.4(JUP):c.729G>C (p.Leu243=)
|
|
|
NM_002230.4(JUP):c.747G>A (p.Thr249=)
|
|
|
NM_002230.4(JUP):c.762C>G (p.Leu254=)
|
rs781805854
|
|
NM_002230.4(JUP):c.763C>T (p.Leu255=)
|
rs1005433215
|
|
NM_002230.4(JUP):c.798G>A (p.Leu266=)
|
|
|
NM_002230.4(JUP):c.813A>G (p.Gln271=)
|
rs1597817544
|
|
NM_002230.4(JUP):c.828G>C (p.Leu276=)
|
|
|
NM_002230.4(JUP):c.831C>T (p.Leu277=)
|
rs1915911159
|
|
NM_002230.4(JUP):c.846C>T (p.Pro282=)
|
rs782262002
|
|
NM_002230.4(JUP):c.84G>C (p.Ser28=)
|
rs144137028
|
|
NM_002230.4(JUP):c.852C>T (p.Phe284=)
|
|
|
NM_002230.4(JUP):c.855G>A (p.Leu285=)
|
|
|
NM_002230.4(JUP):c.855G>C (p.Leu285=)
|
rs1392149768
|
|
NM_002230.4(JUP):c.87C>G (p.Gly29=)
|
|
|
NM_002230.4(JUP):c.909+10C>T
|
rs2143648785
|
|
NM_002230.4(JUP):c.909+20C>T
|
rs2143648546
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002230.4(JUP):c.910-14C>T
|
|
|
NM_002230.4(JUP):c.910-16C>T
|
|
|
NM_002230.4(JUP):c.910-19A>G
|
|
|
NM_002230.4(JUP):c.910-19A>T
|
|
|
NM_002230.4(JUP):c.910-7C>T
|
rs782066434
|
|
NM_002230.4(JUP):c.910-9T>A
|
|
|
NM_002230.4(JUP):c.910-9T>C
|
rs1915494472
|
|
NM_002230.4(JUP):c.915C>A (p.Ile305=)
|
|
|
NM_002230.4(JUP):c.927T>C (p.Asn309=)
|
rs571363075
|
|
NM_002230.4(JUP):c.93C>T (p.Asn31=)
|
rs1597835146
|
|
NM_002230.4(JUP):c.96C>T (p.Thr32=)
|
|
|
NM_002230.4(JUP):c.981G>A (p.Leu327=)
|
rs1295630627
|
|
NM_002230.4(JUP):c.984C>T (p.Leu328=)
|
|
|
NM_002230.4(JUP):c.9G>C (p.Val3=)
|
|
|
NM_004415.4(DSP):c.1002C>T (p.Asp334=)
|
|
|
NM_004415.4(DSP):c.1008T>G (p.Leu336=)
|
|
|
NM_004415.4(DSP):c.1010T>C (p.Val337Ala)
|
|
|
NM_004415.4(DSP):c.102C>T (p.Gly34=)
|
rs763785063
|
|
NM_004415.4(DSP):c.1045-4T>G
|
|
|
NM_004415.4(DSP):c.1047C>T (p.Ala349=)
|
rs1758892420
|
|
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys)
|
rs1187569405
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
|
|
|
NM_004415.4(DSP):c.1092C>T (p.Ile364=)
|
|
|
NM_004415.4(DSP):c.1113T>C (p.His371=)
|
|
|
NM_004415.4(DSP):c.111C>A (p.Thr37=)
|
rs727502995
|
|
NM_004415.4(DSP):c.1125T>C (p.Asn375=)
|
|
|
NM_004415.4(DSP):c.1140+14G>C
|
|
|
NM_004415.4(DSP):c.1140+15T>G
|
|
|
NM_004415.4(DSP):c.1140+20A>G
|
rs2113672635
|
|
NM_004415.4(DSP):c.1141-12C>T
|
|
|
NM_004415.4(DSP):c.1141-15T>C
|
|
|
NM_004415.4(DSP):c.1141-8C>A
|
rs1758907949
|
|
NM_004415.4(DSP):c.1141-9C>T
|
|
|
NM_004415.4(DSP):c.1161T>A (p.Ser387=)
|
rs1758909456
|
|
NM_004415.4(DSP):c.1179G>A (p.Lys393=)
|
|
|
NM_004415.4(DSP):c.117G>A (p.Arg39=)
|
|
|
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg)
|
rs769054351
|
|
NM_004415.4(DSP):c.1182G>T (p.Gly394=)
|
|
|
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp)
|
rs142129767
|
|
NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)
|
|
|
NM_004415.4(DSP):c.1240C>T (p.Leu414=)
|
|
|
NM_004415.4(DSP):c.1248A>G (p.Glu416=)
|
rs1554106751
|
|
NM_004415.4(DSP):c.1267-10A>C
|
rs2113674080
|
|
NM_004415.4(DSP):c.1267-13T>C
|
|
|
NM_004415.4(DSP):c.1267-20G>A
|
|
|
NM_004415.4(DSP):c.1288G>A (p.Glu430Lys)
|
|
|
NM_004415.4(DSP):c.12C>T (p.Asn4=)
|
rs368802003
|
|
NM_004415.4(DSP):c.1303G>A (p.Val435Met)
|
|
|
NM_004415.4(DSP):c.1329G>A (p.Lys443=)
|
rs767785995
|
|
NM_004415.4(DSP):c.132G>A (p.Arg44=)
|
rs1204569556
|
|
NM_004415.4(DSP):c.1356C>T (p.Asn452=)
|
rs1187261274
|
|
NM_004415.4(DSP):c.135C>T (p.Arg45=)
|
|
|
NM_004415.4(DSP):c.1362C>T (p.Asp454=)
|
rs778044416
|
|
NM_004415.4(DSP):c.1366A>C (p.Arg456=)
|
|
|
NM_004415.4(DSP):c.1378C>T (p.Pro460Ser)
|
|
|
NM_004415.4(DSP):c.1380C>T (p.Pro460=)
|
rs1451086273
|
|
NM_004415.4(DSP):c.138C>T (p.Gly46=)
|
|
|
NM_004415.4(DSP):c.1395T>C (p.Ala465=)
|
rs778926592
|
|
NM_004415.4(DSP):c.1395T>G (p.Ala465=)
|
|
|
NM_004415.4(DSP):c.1398C>G (p.Leu466=)
|
rs1465847887
|
|
NM_004415.4(DSP):c.1419+17A>G
|
|
|
NM_004415.4(DSP):c.1420-13G>T
|
|
|
NM_004415.4(DSP):c.1420-9G>C
|
rs1758956235
|
|
NM_004415.4(DSP):c.1425C>T (p.Ile475=)
|
rs1329910838
|
|
NM_004415.4(DSP):c.1426G>A (p.Val476Met)
|
rs367987327
|
|
NM_004415.4(DSP):c.1428G>A (p.Val476=)
|
|
|
NM_004415.4(DSP):c.1431T>C (p.His477=)
|
rs1554106904
|
|
NM_004415.4(DSP):c.1449C>A (p.Ile483=)
|
rs1758959651
|
|
NM_004415.4(DSP):c.1449C>T (p.Ile483=)
|
|
|
NM_004415.4(DSP):c.144C>T (p.Ile48=)
|
|
|
NM_004415.4(DSP):c.1458C>T (p.Asp486=)
|
|
|
NM_004415.4(DSP):c.1464C>T (p.Asn488=)
|
rs768526275
|
|
NM_004415.4(DSP):c.1467G>A (p.Glu489=)
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
NM_004415.4(DSP):c.1475A>G (p.Lys492Arg)
|
|
|
NM_004415.4(DSP):c.1476G>A (p.Lys492=)
|
rs2113675467
|
|
NM_004415.4(DSP):c.1485G>T (p.Val495=)
|
rs2113675497
|
|
NM_004415.4(DSP):c.1497A>G (p.Gly499=)
|
rs1581803484
|
|
NM_004415.4(DSP):c.1500C>T (p.Gly500=)
|
rs762086998
|
|
NM_004415.4(DSP):c.1506C>T (p.Asp502=)
|
|
|
NM_004415.4(DSP):c.1524G>C (p.Val508=)
|
rs2113675631
|
|
NM_004415.4(DSP):c.1527G>T (p.Gly509=)
|
rs397516917
|
|
NM_004415.4(DSP):c.1542T>A (p.Pro514=)
|
rs1554106920
|
|
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu)
|
rs730880079
|
|
NM_004415.4(DSP):c.1558G>A (p.Val520Met)
|
|
|
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu)
|
rs113378925
|
|
NM_004415.4(DSP):c.1574+12A>C
|
rs777035331
|
|
NM_004415.4(DSP):c.1574+12A>G
|
|
|
NM_004415.4(DSP):c.1574+16T>C
|
|
|
NM_004415.4(DSP):c.1574+20A>G
|
rs1190197652
|
|
NM_004415.4(DSP):c.1575-17C>T
|
|
|
NM_004415.4(DSP):c.1575-4T>G
|
rs745353405
|
|
NM_004415.4(DSP):c.1575-9G>T
|
|
|
NM_004415.4(DSP):c.157T>C (p.Ser53Pro)
|
rs397516918
|
|
NM_004415.4(DSP):c.1587C>T (p.Tyr529=)
|
rs2113677271
|
|
NM_004415.4(DSP):c.1593A>G (p.Glu531=)
|
|
|
NM_004415.4(DSP):c.1596C>T (p.Ala532=)
|
|
|
NM_004415.4(DSP):c.159G>A (p.Ser53=)
|
|
|
NM_004415.4(DSP):c.162C>T (p.Asp54=)
|
rs1057113375
|
|
NM_004415.4(DSP):c.1639C>T (p.Leu547=)
|
|
|
NM_004415.4(DSP):c.1644G>A (p.Val548=)
|
|
|
NM_004415.4(DSP):c.1659C>T (p.Cys553=)
|
|
|
NM_004415.4(DSP):c.1665T>C (p.Ile555=)
|
|
|
NM_004415.4(DSP):c.1680C>T (p.Ile560=)
|
rs397516920
|
|
NM_004415.4(DSP):c.170+10T>C
|
|
|
NM_004415.4(DSP):c.170+11G>T
|
rs727505007
|
|
NM_004415.4(DSP):c.170+12C>A
|
|
|
NM_004415.4(DSP):c.170+13C>T
|
|
|
NM_004415.4(DSP):c.170+14C>G
|
|
|
NM_004415.4(DSP):c.170+14C>T
|
|
|
NM_004415.4(DSP):c.170+15G>A
|
|
|
NM_004415.4(DSP):c.170+18G>A
|
|
|
NM_004415.4(DSP):c.170+19A>G
|
|
|
NM_004415.4(DSP):c.170+7A>G
|
|
|
NM_004415.4(DSP):c.1701+16C>T
|
|
|
NM_004415.4(DSP):c.1701+18C>G
|
rs2113677592
|
|
NM_004415.4(DSP):c.1701+7C>A
|
|
|
NM_004415.4(DSP):c.1702-12G>A
|
rs1759045119
|
|
NM_004415.4(DSP):c.1702-16G>A
|
|
|
NM_004415.4(DSP):c.1702-7C>G
|
|
|
NM_004415.4(DSP):c.1702-7_1702-3del
|
|
|
NM_004415.4(DSP):c.171-5C>G
|
|
|
NM_004415.4(DSP):c.171-5C>T
|
|
|
NM_004415.4(DSP):c.1710A>C (p.Thr570=)
|
rs1429455523
|
|
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
|
|
|
NM_004415.4(DSP):c.1737G>T (p.Thr579=)
|
rs150734502
|
|
NM_004415.4(DSP):c.1743C>A (p.Ala581=)
|
rs139095230
|
|
NM_004415.4(DSP):c.1749T>G (p.Leu583=)
|
rs1060503981
|
|
NM_004415.4(DSP):c.1788C>G (p.Gly596=)
|
rs2113679013
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
NM_004415.4(DSP):c.1794G>A (p.Glu598=)
|
|
|
NM_004415.4(DSP):c.1816C>A (p.Arg606=)
|
rs372467697
|
|
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)
|
rs576661499
|
|
NM_004415.4(DSP):c.1851G>A (p.Lys617=)
|
rs1759052144
|
|
NM_004415.4(DSP):c.1869C>T (p.Val623=)
|
|
|
NM_004415.4(DSP):c.1903+12A>T
|
|
|
NM_004415.4(DSP):c.1903+15T>C
|
|
|
NM_004415.4(DSP):c.1903+17T>C
|
|
|
NM_004415.4(DSP):c.1904-19C>A
|
|
|
NM_004415.4(DSP):c.1904-20G>T
|
|
|
NM_004415.4(DSP):c.1904-4A>G
|
|
|
NM_004415.4(DSP):c.1904-9T>C
|
|
|
NM_004415.4(DSP):c.1908C>T (p.Thr636=)
|
|
|
NM_004415.4(DSP):c.1914T>C (p.Thr638=)
|
|
|
NM_004415.4(DSP):c.1919T>C (p.Ile640Thr)
|
rs1407036854
|
|
NM_004415.4(DSP):c.1923T>A (p.Thr641=)
|
|
|
NM_004415.4(DSP):c.192G>A (p.Arg64=)
|
rs908789038
|
|
NM_004415.4(DSP):c.1938C>T (p.Cys646=)
|
rs1759064440
|
|
NM_004415.4(DSP):c.1965T>C (p.Ile655=)
|
|
|
NM_004415.4(DSP):c.1971C>G (p.Thr657=)
|
rs2113679874
|
|
NM_004415.4(DSP):c.2016G>A (p.Leu672=)
|
rs1282905209
|
|
NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)
|
|
|
NM_004415.4(DSP):c.2049G>A (p.Glu683=)
|
rs2113680102
|
|
NM_004415.4(DSP):c.204G>A (p.Gln68=)
|
|
|
NM_004415.4(DSP):c.2061T>A (p.Thr687=)
|
|
|
NM_004415.4(DSP):c.2061T>C (p.Thr687=)
|
|
|
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
|
|
|
NM_004415.4(DSP):c.208A>G (p.Thr70Ala)
|
rs1442496444
|
|
NM_004415.4(DSP):c.2091A>T (p.Gly697=)
|
rs2076304
|
|
NM_004415.4(DSP):c.2097T>C (p.Ser699=)
|
rs2113680246
|
|
NM_004415.4(DSP):c.2103C>T (p.His701=)
|
|
|
NM_004415.4(DSP):c.2109A>G (p.Thr703=)
|
rs1351265258
|
|
NM_004415.4(DSP):c.2130+11G>A
|
|
|
NM_004415.4(DSP):c.2130+12C>T
|
|
|
NM_004415.4(DSP):c.2130+14A>G
|
|
|
NM_004415.4(DSP):c.2130+7A>G
|
rs1759074833
|
|
NM_004415.4(DSP):c.2131-20C>T
|
|
|
NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)
|
|
|
NM_004415.4(DSP):c.2157T>C (p.Ile719=)
|
|
|
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly)
|
rs1261146655
|
|
NM_004415.4(DSP):c.2173C>A (p.Gln725Lys)
|
|
|
NM_004415.4(DSP):c.2177T>C (p.Leu726Pro)
|
|
|
NM_004415.4(DSP):c.2178T>C (p.Leu726=)
|
rs2113683095
|
|
NM_004415.4(DSP):c.2184T>C (p.Asp728=)
|
rs750383681
|
|
NM_004415.4(DSP):c.2190T>C (p.Leu730=)
|
|
|
NM_004415.4(DSP):c.2193C>A (p.Ala731=)
|
|
|
NM_004415.4(DSP):c.219G>A (p.Glu73=)
|
|
|
NM_004415.4(DSP):c.2208T>C (p.Ser736=)
|
rs2113683195
|
|
NM_004415.4(DSP):c.2214G>A (p.Lys738=)
|
|
|
NM_004415.4(DSP):c.2220C>T (p.Cys740=)
|
|
|
NM_004415.4(DSP):c.2247A>C (p.Leu749=)
|
rs28763963
|
|
NM_004415.4(DSP):c.2250T>G (p.Phe750Leu)
|
|
|
NM_004415.4(DSP):c.2259G>A (p.Leu753=)
|
rs1759156637
|
|
NM_004415.4(DSP):c.225G>A (p.Leu75=)
|
rs2113653867
|
|
NM_004415.4(DSP):c.2268C>T (p.Ile756=)
|
|
|
NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)
|
|
|
NM_004415.4(DSP):c.2280A>G (p.Thr760=)
|
rs1375561193
|
|
NM_004415.4(DSP):c.2297+11C>T
|
|
|
NM_004415.4(DSP):c.2297+14A>C
|
rs1057520278
|
|
NM_004415.4(DSP):c.2297+15C>T
|
|
|
NM_004415.4(DSP):c.2298-10C>T
|
rs1057522919
|
|
NM_004415.4(DSP):c.2298-15T>C
|
rs2113683947
|
|
NM_004415.4(DSP):c.2298-5T>C
|
rs969832224
|
|
NM_004415.4(DSP):c.2298-8C>T
|
rs2113683961
|
|
NM_004415.4(DSP):c.2304C>T (p.Cys768=)
|
rs1441887959
|
|
NM_004415.4(DSP):c.2313G>A (p.Arg771=)
|
|
|
NM_004415.4(DSP):c.231C>T (p.Asn77=)
|
|
|
NM_004415.4(DSP):c.2322C>T (p.Leu774=)
|
|
|
NM_004415.4(DSP):c.2327C>G (p.Ala776Gly)
|
rs201700546
|
|
NM_004415.4(DSP):c.2328T>G (p.Ala776=)
|
rs2113684036
|
|
NM_004415.4(DSP):c.2340A>G (p.Thr780=)
|
|
|
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
|
|
|
NM_004415.4(DSP):c.2379G>A (p.Glu793=)
|
|
|
NM_004415.4(DSP):c.2385A>G (p.Glu795=)
|
|
|
NM_004415.4(DSP):c.2386A>G (p.Thr796Ala)
|
rs1554107526
|
|
NM_004415.4(DSP):c.2388T>A (p.Thr796=)
|
|
|
NM_004415.4(DSP):c.2388T>C (p.Thr796=)
|
rs2113684215
|
|
NM_004415.4(DSP):c.2403G>A (p.Leu801=)
|
rs1759182985
|
|
NM_004415.4(DSP):c.2412G>A (p.Val804=)
|
rs773330932
|
|
NM_004415.4(DSP):c.2418T>C (p.Ala806=)
|
rs1759183681
|
|
NM_004415.4(DSP):c.2421C>T (p.Tyr807=)
|
rs2113684259
|
|
NM_004415.4(DSP):c.2424C>G (p.Arg808=)
|
|
|
NM_004415.4(DSP):c.2436+10A>G
|
rs1759184963
|
|
NM_004415.4(DSP):c.2436+11A>C
|
rs1759185037
|
|
NM_004415.4(DSP):c.2436+13C>T
|
|
|
NM_004415.4(DSP):c.2436+16A>C
|
|
|
NM_004415.4(DSP):c.2436+16A>T
|
rs199555263
|
|
NM_004415.4(DSP):c.2437-10C>T
|
rs749486113
|
|
NM_004415.4(DSP):c.2437-10del
|
rs746870396
|
|
NM_004415.4(DSP):c.2437-12_2437-11del
|
rs727502998
|
|
NM_004415.4(DSP):c.2437-6T>C
|
rs2113684940
|
|
NM_004415.4(DSP):c.2437-7C>T
|
rs1424310426
|
|
NM_004415.4(DSP):c.2437-9A>G
|
|
|
NM_004415.4(DSP):c.243C>T (p.Cys81=)
|
rs947998304
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
NM_004415.4(DSP):c.2442A>C (p.Ile814=)
|
|
|
NM_004415.4(DSP):c.2451C>T (p.Asp817=)
|
|
|
NM_004415.4(DSP):c.2454G>A (p.Leu818=)
|
|
|
NM_004415.4(DSP):c.2466G>A (p.Lys822=)
|
rs1379441574
|
|
NM_004415.4(DSP):c.2481T>C (p.Thr827=)
|
|
|
NM_004415.4(DSP):c.2487G>A (p.Lys829=)
|
|
|
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)
|
|
|
NM_004415.4(DSP):c.2490A>C (p.Thr830=)
|
rs2113685097
|
|
NM_004415.4(DSP):c.250C>A (p.Arg84=)
|
|
|
NM_004415.4(DSP):c.2525C>G (p.Thr842Ser)
|
|
|
NM_004415.4(DSP):c.2538T>C (p.Tyr846=)
|
rs765837163
|
|
NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)
|
|
|
NM_004415.4(DSP):c.2553G>A (p.Leu851=)
|
|
|
NM_004415.4(DSP):c.2553G>T (p.Leu851=)
|
rs2113685231
|
|
NM_004415.4(DSP):c.2571T>A (p.Gly857=)
|
rs1216646957
|
|
NM_004415.4(DSP):c.2589G>A (p.Leu863=)
|
|
|
NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)
|
|
|
NM_004415.4(DSP):c.2622C>A (p.Ile874=)
|
rs751067479
|
|
NM_004415.4(DSP):c.2630+10C>T
|
rs757717367
|
|
NM_004415.4(DSP):c.2630+15_2630+17del
|
|
|
NM_004415.4(DSP):c.2630+17C>A
|
|
|
NM_004415.4(DSP):c.2630+18C>A
|
|
|
NM_004415.4(DSP):c.2630+7C>T
|
|
|
NM_004415.4(DSP):c.2631-10T>A
|
rs369840498
|
|
NM_004415.4(DSP):c.2631-10T>C
|
|
|
NM_004415.4(DSP):c.2631-12A>G
|
|
|
NM_004415.4(DSP):c.2631-14C>G
|
|
|
NM_004415.4(DSP):c.2631-14C>T
|
rs1050258732
|
|
NM_004415.4(DSP):c.2631-14del
|
|
|
NM_004415.4(DSP):c.2631-15T>C
|
|
|
NM_004415.4(DSP):c.2631-16A>G
|
rs1362454930
|
|
NM_004415.4(DSP):c.2631-18G>T
|
|
|
NM_004415.4(DSP):c.2631-19T>G
|
|
|
NM_004415.4(DSP):c.2631-4C>G
|
rs1581811524
|
|
NM_004415.4(DSP):c.2631-6C>G
|
rs1759237205
|
|
NM_004415.4(DSP):c.2631-6C>T
|
|
|
NM_004415.4(DSP):c.2631-8C>A
|
|
|
NM_004415.4(DSP):c.2631-8C>T
|
|
|
NM_004415.4(DSP):c.2631-9T>C
|
|
|
NM_004415.4(DSP):c.2643G>A (p.Leu881=)
|
rs1057520546
|
|
NM_004415.4(DSP):c.2655C>A (p.Ile885=)
|
|
|
NM_004415.4(DSP):c.2662T>C (p.Leu888=)
|
rs994415126
|
|
NM_004415.4(DSP):c.2685T>C (p.Tyr895=)
|
rs2113686561
|
|
NM_004415.4(DSP):c.2700G>A (p.Lys900=)
|
rs2113686599
|
|
NM_004415.4(DSP):c.2712T>C (p.Asp904=)
|
|
|
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
|
rs142494121
|
|
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
|
|
|
NM_004415.4(DSP):c.273+12C>G
|
|
|
NM_004415.4(DSP):c.273+13T>C
|
|
|
NM_004415.4(DSP):c.273+14G>A
|
rs1460404348
|
|
NM_004415.4(DSP):c.273+20A>G
|
|
|
NM_004415.4(DSP):c.273+7_273+8insC
|
|
|
NM_004415.4(DSP):c.273+8T>A
|
|
|
NM_004415.4(DSP):c.274-10T>C
|
|
|
NM_004415.4(DSP):c.274-13T>C
|
|
|
NM_004415.4(DSP):c.274-18G>C
|
|
|
NM_004415.4(DSP):c.274-19T>C
|
|
|
NM_004415.4(DSP):c.274-20A>C
|
|
|
NM_004415.4(DSP):c.274-7C>G
|
|
|
NM_004415.4(DSP):c.274-9T>A
|
rs986399667
|
|
NM_004415.4(DSP):c.2769C>T (p.Val923=)
|
rs767744438
|
|
NM_004415.4(DSP):c.276A>G (p.Glu92=)
|
|
|
NM_004415.4(DSP):c.2775G>T (p.Arg925=)
|
rs2113686798
|
|
NM_004415.4(DSP):c.277T>C (p.Leu93=)
|
rs1561680562
|
|
NM_004415.4(DSP):c.2793+11A>G
|
|
|
NM_004415.4(DSP):c.2793+14T>G
|
|
|
NM_004415.4(DSP):c.2793+18G>A
|
rs1405091650
|
|
NM_004415.4(DSP):c.2793+7G>A
|
|
|
NM_004415.4(DSP):c.2793+8C>T
|
|
|
NM_004415.4(DSP):c.2794-12C>T
|
rs1759258114
|
|
NM_004415.4(DSP):c.2794-13A>T
|
|
|
NM_004415.4(DSP):c.2794-17T>C
|
|
|
NM_004415.4(DSP):c.2794-17T>G
|
|
|
NM_004415.4(DSP):c.2794-20A>G
|
|
|
NM_004415.4(DSP):c.2794-7T>C
|
rs397516926
|
|
NM_004415.4(DSP):c.2794-7T>G
|
rs397516926
|
|
NM_004415.4(DSP):c.2799G>A (p.Leu933=)
|
|
|
NM_004415.4(DSP):c.2809A>G (p.Ile937Val)
|
rs1287292518
|
|
NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)
|
|
|
NM_004415.4(DSP):c.2848A>G (p.Ile950Val)
|
|
|
NM_004415.4(DSP):c.2860T>C (p.Cys954Arg)
|
|
|
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr)
|
rs190421916
|
|
NM_004415.4(DSP):c.2865C>A (p.Ala955=)
|
rs2113687754
|
|
NM_004415.4(DSP):c.2877+14A>G
|
|
|
NM_004415.4(DSP):c.2877+20A>C
|
|
|
NM_004415.4(DSP):c.2878-12A>G
|
rs765050348
|
|
NM_004415.4(DSP):c.2878-13C>T
|
|
|
NM_004415.4(DSP):c.2878-14T>G
|
|
|
NM_004415.4(DSP):c.2878-17dup
|
rs1440609253
|
|
NM_004415.4(DSP):c.2878-19A>G
|
|
|
NM_004415.4(DSP):c.2878-19A>T
|
|
|
NM_004415.4(DSP):c.2878-8T>C
|
|
|
NM_004415.4(DSP):c.2878-9A>G
|
rs2113688819
|
|
NM_004415.4(DSP):c.2891A>T (p.Gln964Leu)
|
|
|
NM_004415.4(DSP):c.2892G>A (p.Gln964=)
|
rs746675465
|
|
NM_004415.4(DSP):c.2898C>T (p.Ala966=)
|
rs754665672
|
|
NM_004415.4(DSP):c.2904C>T (p.Tyr968=)
|
rs1241595798
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
NM_004415.4(DSP):c.2949C>T (p.Thr983=)
|
|
|
NM_004415.4(DSP):c.2951T>C (p.Met984Thr)
|
|
|
NM_004415.4(DSP):c.2985+7A>G
|
|
|
NM_004415.4(DSP):c.2985+8T>C
|
rs776809248
|
|
NM_004415.4(DSP):c.2985+9G>A
|
rs1759293135
|
|
NM_004415.4(DSP):c.2986-13_2986-10del
|
|
|
NM_004415.4(DSP):c.2986-15T>C
|
|
|
NM_004415.4(DSP):c.2986-18T>C
|
|
|
NM_004415.4(DSP):c.3000T>C (p.His1000=)
|
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
NM_004415.4(DSP):c.3006G>A (p.Arg1002=)
|
rs1759317112
|
|
NM_004415.4(DSP):c.3018A>G (p.Leu1006=)
|
rs375412541
|
|
NM_004415.4(DSP):c.3038A>G (p.Tyr1013Cys)
|
|
|
NM_004415.4(DSP):c.3045G>A (p.Arg1015=)
|
|
|
NM_004415.4(DSP):c.3048C>T (p.Phe1016=)
|
rs1299556752
|
|
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)
|
rs375028675
|
|
NM_004415.4(DSP):c.3084+10A>G
|
rs1581814315
|
|
NM_004415.4(DSP):c.3084+11C>T
|
|
|
NM_004415.4(DSP):c.3084+12T>G
|
|
|
NM_004415.4(DSP):c.3084+19T>C
|
|
|
NM_004415.4(DSP):c.3084+20C>T
|
|
|
NM_004415.4(DSP):c.3085-10C>G
|
|
|
NM_004415.4(DSP):c.3085-13T>C
|
rs2113690976
|
|
NM_004415.4(DSP):c.3085-20T>A
|
|
|
NM_004415.4(DSP):c.3085-20T>G
|
|
|
NM_004415.4(DSP):c.3085-4A>G
|
|
|
NM_004415.4(DSP):c.309G>A (p.Arg103=)
|
|
|
NM_004415.4(DSP):c.30G>A (p.Arg10=)
|
|
|
NM_004415.4(DSP):c.30G>T (p.Arg10=)
|
rs1581777241
|
|
NM_004415.4(DSP):c.3120G>A (p.Glu1040=)
|
|
|
NM_004415.4(DSP):c.3127C>T (p.Leu1043=)
|
rs1581814977
|
|
NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)
|
|
|
NM_004415.4(DSP):c.3132C>A (p.Ala1044=)
|
|
|
NM_004415.4(DSP):c.3137A>T (p.Asp1046Val)
|
rs752077454
|
|
NM_004415.4(DSP):c.3138T>C (p.Asp1046=)
|
rs879254347
|
|
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
|
|
|
NM_004415.4(DSP):c.3186G>T (p.Leu1062=)
|
|
|
NM_004415.4(DSP):c.3231G>C (p.Ala1077=)
|
|
|
NM_004415.4(DSP):c.3244C>T (p.Leu1082=)
|
|
|
NM_004415.4(DSP):c.3261G>A (p.Glu1087=)
|
rs1045685133
|
|
NM_004415.4(DSP):c.3262C>T (p.Leu1088=)
|
|
|
NM_004415.4(DSP):c.3264G>T (p.Leu1088=)
|
|
|
NM_004415.4(DSP):c.3276G>A (p.Ser1092=)
|
rs202057409
|
|
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn)
|
rs2491080
|
|
NM_004415.4(DSP):c.3297G>A (p.Lys1099=)
|
|
|
NM_004415.4(DSP):c.3306C>T (p.Gly1102=)
|
|
|
NM_004415.4(DSP):c.3315A>G (p.Lys1105=)
|
rs1581815327
|
|
NM_004415.4(DSP):c.3318A>G (p.Glu1106=)
|
rs2113691480
|
|
NM_004415.4(DSP):c.3321C>G (p.Leu1107=)
|
|
|
NM_004415.4(DSP):c.3321C>T (p.Leu1107=)
|
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
NM_004415.4(DSP):c.3339A>C (p.Arg1113=)
|
|
|
NM_004415.4(DSP):c.3342G>T (p.Leu1114=)
|
|
|
NM_004415.4(DSP):c.3351G>A (p.Glu1117=)
|
rs1759350245
|
|
NM_004415.4(DSP):c.3366G>A (p.Lys1122=)
|
rs1561697279
|
|
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
|
|
|
NM_004415.4(DSP):c.3402A>G (p.Gln1134=)
|
|
|
NM_004415.4(DSP):c.3423A>G (p.Gln1141=)
|
|
|
NM_004415.4(DSP):c.3424C>T (p.Leu1142=)
|
rs779251147
|
|
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)
|
|
|
NM_004415.4(DSP):c.3462T>A (p.Gly1154=)
|
rs1554108086
|
|
NM_004415.4(DSP):c.3468G>A (p.Gln1156=)
|
rs947354271
|
|
NM_004415.4(DSP):c.3480T>C (p.Ser1160=)
|
|
|
NM_004415.4(DSP):c.348C>T (p.Asp116=)
|
|
|
NM_004415.4(DSP):c.3501G>A (p.Lys1167=)
|
|
|
NM_004415.4(DSP):c.3503A>G (p.Glu1168Gly)
|
|
|
NM_004415.4(DSP):c.3504G>A (p.Glu1168=)
|
|
|
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)
|
rs762449180
|
|
NM_004415.4(DSP):c.3522G>A (p.Leu1174=)
|
|
|
NM_004415.4(DSP):c.3543A>G (p.Glu1181=)
|
|
|
NM_004415.4(DSP):c.3546C>A (p.Gly1182=)
|
rs1355395147
|
|
NM_004415.4(DSP):c.3564T>C (p.Tyr1188=)
|
rs2113692122
|
|
NM_004415.4(DSP):c.3573G>C (p.Glu1191Asp)
|
|
|
NM_004415.4(DSP):c.3582G>A (p.Lys1194=)
|
|
|
NM_004415.4(DSP):c.3591C>T (p.Asn1197=)
|
|
|
NM_004415.4(DSP):c.3606G>A (p.Glu1202=)
|
|
|
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)
|
rs1283110287
|
|
NM_004415.4(DSP):c.3639G>A (p.Glu1213=)
|
|
|
NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)
|
|
|
NM_004415.4(DSP):c.3654G>C (p.Lys1218Asn)
|
|
|
NM_004415.4(DSP):c.3657C>A (p.Thr1219=)
|
|
|
NM_004415.4(DSP):c.3663C>T (p.Ile1221=)
|
rs2113692351
|
|
NM_004415.4(DSP):c.3676A>G (p.Met1226Val)
|
|
|
NM_004415.4(DSP):c.3687G>A (p.Glu1229=)
|
|
|
NM_004415.4(DSP):c.3696C>G (p.Ser1232=)
|
rs141120358
|
|
NM_004415.4(DSP):c.3696C>T (p.Ser1232=)
|
|
|
NM_004415.4(DSP):c.3706A>C (p.Arg1236=)
|
|
|
NM_004415.4(DSP):c.370T>C (p.Leu124=)
|
rs2113657689
|
|
NM_004415.4(DSP):c.3714G>A (p.Gln1238=)
|
rs2113692461
|
|
NM_004415.4(DSP):c.3718G>C (p.Asp1240His)
|
rs1216670261
|
|
NM_004415.4(DSP):c.372G>A (p.Leu124=)
|
rs2113657693
|
|
NM_004415.4(DSP):c.3739C>A (p.Arg1247=)
|
|
|
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala)
|
rs1276847644
|
|
NM_004415.4(DSP):c.3750G>A (p.Lys1250=)
|
rs2113692538
|
|
NM_004415.4(DSP):c.3762C>G (p.Val1254=)
|
rs2113692582
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
NM_004415.4(DSP):c.3764G>C (p.Arg1255Thr)
|
|
|
NM_004415.4(DSP):c.3771T>C (p.Asn1257=)
|
|
|
NM_004415.4(DSP):c.3780C>T (p.Ile1260=)
|
rs2113692617
|
|
NM_004415.4(DSP):c.378A>G (p.Arg126=)
|
rs1758561693
|
|
NM_004415.4(DSP):c.3792T>C (p.Thr1264=)
|
rs766726853
|
|
NM_004415.4(DSP):c.3805C>A (p.Arg1269=)
|
rs767643821
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
NM_004415.4(DSP):c.381G>A (p.Glu127=)
|
|
|
NM_004415.4(DSP):c.3828G>A (p.Gln1276=)
|
|
|
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)
|
rs763915365
|
|
NM_004415.4(DSP):c.3846T>C (p.Ser1282=)
|
rs2113692799
|
|
NM_004415.4(DSP):c.3849G>A (p.Glu1283=)
|
rs2113692806
|
|
NM_004415.4(DSP):c.3867G>A (p.Gln1289=)
|
|
|
NM_004415.4(DSP):c.387G>A (p.Arg129=)
|
|
|
NM_004415.4(DSP):c.3894C>A (p.Val1298=)
|
rs1581816575
|
|
NM_004415.4(DSP):c.3899A>G (p.Gln1300Arg)
|
rs1060500619
|
|
NM_004415.4(DSP):c.3905G>T (p.Arg1302Leu)
|
|
|
NM_004415.4(DSP):c.3909T>C (p.Ser1303=)
|
|
|
NM_004415.4(DSP):c.3918T>C (p.Asn1306=)
|
rs761749643
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.3957C>T (p.Thr1319=)
|
rs2113693020
|
|
NM_004415.4(DSP):c.3981C>A (p.Ile1327=)
|
rs397516934
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
NM_004415.4(DSP):c.3990C>G (p.Leu1330=)
|
|
|
NM_004415.4(DSP):c.3996T>A (p.Ala1332=)
|
|
|
NM_004415.4(DSP):c.4014C>T (p.Ala1338=)
|
|
|
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly)
|
rs768628788
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
NM_004415.4(DSP):c.402C>T (p.Pro134=)
|
rs373685989
|
|
NM_004415.4(DSP):c.4084T>C (p.Leu1362=)
|
rs2113693339
|
|
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
|
|
|
NM_004415.4(DSP):c.4104C>T (p.Thr1368=)
|
rs1464715776
|
|
NM_004415.4(DSP):c.4113C>T (p.Asn1371=)
|
|
|
NM_004415.4(DSP):c.411T>G (p.Ala137=)
|
rs745536008
|
|
NM_004415.4(DSP):c.4134C>T (p.His1378=)
|
|
|
NM_004415.4(DSP):c.4140C>T (p.Leu1380=)
|
rs1759385261
|
|
NM_004415.4(DSP):c.4145T>G (p.Met1382Arg)
|
|
|
NM_004415.4(DSP):c.4188C>T (p.Asp1396=)
|
|
|
NM_004415.4(DSP):c.4197C>T (p.Thr1399=)
|
rs1581817166
|
|
NM_004415.4(DSP):c.4209G>A (p.Arg1403=)
|
rs1561698567
|
|
NM_004415.4(DSP):c.420A>G (p.Lys140=)
|
|
|
NM_004415.4(DSP):c.4213T>C (p.Leu1405=)
|
rs1451895767
|
|
NM_004415.4(DSP):c.422+17A>G
|
|
|
NM_004415.4(DSP):c.422+7T>C
|
|
|
NM_004415.4(DSP):c.423-10T>G
|
|
|
NM_004415.4(DSP):c.423-11T>A
|
rs1758598034
|
|
NM_004415.4(DSP):c.423-16G>A
|
rs1561681390
|
|
NM_004415.4(DSP):c.4239G>A (p.Lys1413=)
|
rs1581817246
|
|
NM_004415.4(DSP):c.4245T>A (p.Thr1415=)
|
rs397516936
|
|
NM_004415.4(DSP):c.4245T>G (p.Thr1415=)
|
rs397516936
|
|
NM_004415.4(DSP):c.4270A>C (p.Arg1424=)
|
rs1581817293
|
|
NM_004415.4(DSP):c.4311C>T (p.Gly1437=)
|
rs781353867
|
|
NM_004415.4(DSP):c.4317G>A (p.Glu1439=)
|
|
|
NM_004415.4(DSP):c.4344G>A (p.Glu1448=)
|
|
|
NM_004415.4(DSP):c.4350G>A (p.Glu1450=)
|
rs1561698730
|
|
NM_004415.4(DSP):c.4365T>G (p.Thr1455=)
|
|
|
NM_004415.4(DSP):c.4372C>A (p.Arg1458=)
|
rs28763965
|
|
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu)
|
rs370063434
|
|
NM_004415.4(DSP):c.438A>G (p.Gln146=)
|
rs2113659595
|
|
NM_004415.4(DSP):c.4392A>G (p.Arg1464=)
|
|
|
NM_004415.4(DSP):c.4414G>T (p.Ala1472Ser)
|
|
|
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
|
rs756456881
|
|
NM_004415.4(DSP):c.4428C>A (p.Ile1476=)
|
|
|
NM_004415.4(DSP):c.4428C>T (p.Ile1476=)
|
rs754071010
|
|
NM_004415.4(DSP):c.4491G>C (p.Arg1497=)
|
|
|
NM_004415.4(DSP):c.4497C>T (p.Cys1499=)
|
rs892155521
|
|
NM_004415.4(DSP):c.4498C>T (p.Leu1500=)
|
rs2113694241
|
|
NM_004415.4(DSP):c.4500G>A (p.Leu1500=)
|
|
|
NM_004415.4(DSP):c.4509A>G (p.Glu1503=)
|
rs1350066172
|
|
NM_004415.4(DSP):c.4512C>T (p.Asn1504=)
|
rs140993677
|
|
NM_004415.4(DSP):c.4515G>A (p.Ala1505=)
|
rs193197554
|
|
NM_004415.4(DSP):c.4517G>A (p.Arg1506Lys)
|
|
|
NM_004415.4(DSP):c.4521A>G (p.Leu1507=)
|
rs1060500611
|
|
NM_004415.4(DSP):c.4554C>T (p.Asn1518=)
|
rs1359876288
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)
|
rs780953141
|
|
NM_004415.4(DSP):c.4562C>T (p.Ala1521Val)
|
|
|
NM_004415.4(DSP):c.4563G>C (p.Ala1521=)
|
|
|
NM_004415.4(DSP):c.4566G>T (p.Thr1522=)
|
|
|
NM_004415.4(DSP):c.4569G>A (p.Glu1523=)
|
rs772831377
|
|
NM_004415.4(DSP):c.4582C>T (p.Leu1528=)
|
|
|
NM_004415.4(DSP):c.4623C>T (p.Asp1541=)
|
rs1554108349
|
|
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
|
|
|
NM_004415.4(DSP):c.4635T>C (p.Val1545=)
|
|
|
NM_004415.4(DSP):c.4644G>A (p.Glu1548=)
|
rs1275385323
|
|
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
|
|
|
NM_004415.4(DSP):c.4673G>A (p.Arg1558Gln)
|
|
|
NM_004415.4(DSP):c.4674G>T (p.Arg1558=)
|
|
|
NM_004415.4(DSP):c.4686T>A (p.Ser1562=)
|
rs898212782
|
|
NM_004415.4(DSP):c.4686T>C (p.Ser1562=)
|
|
|
NM_004415.4(DSP):c.4689G>C (p.Leu1563=)
|
rs763150071
|
|
NM_004415.4(DSP):c.4696C>A (p.Leu1566Met)
|
|
|
NM_004415.4(DSP):c.46C>A (p.Arg16Ser)
|
rs754773488
|
|
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
|
|
|
NM_004415.4(DSP):c.4713G>C (p.Gln1571His)
|
rs375381133
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
NM_004415.4(DSP):c.471T>C (p.Ser157=)
|
|
|
NM_004415.4(DSP):c.4731G>A (p.Leu1577=)
|
rs2113694756
|
|
NM_004415.4(DSP):c.4731G>C (p.Leu1577=)
|
rs2113694756
|
|
NM_004415.4(DSP):c.4737G>A (p.Arg1579=)
|
|
|
NM_004415.4(DSP):c.4740G>A (p.Leu1580=)
|
rs2113694768
|
|
NM_004415.4(DSP):c.4743G>A (p.Lys1581=)
|
|
|
NM_004415.4(DSP):c.4749C>A (p.Thr1583=)
|
|
|
NM_004415.4(DSP):c.474C>T (p.Val158=)
|
|
|
NM_004415.4(DSP):c.4770G>A (p.Lys1590=)
|
|
|
NM_004415.4(DSP):c.478C>G (p.Arg160Gly)
|
|
|
NM_004415.4(DSP):c.4790A>C (p.Glu1597Ala)
|
|
|
NM_004415.4(DSP):c.4791G>A (p.Glu1597=)
|
|
|
NM_004415.4(DSP):c.47G>A (p.Arg16His)
|
rs752387234
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
NM_004415.4(DSP):c.4813C>T (p.Leu1605=)
|
|
|
NM_004415.4(DSP):c.4815G>A (p.Leu1605=)
|
rs2113694971
|
|
NM_004415.4(DSP):c.4821G>A (p.Glu1607=)
|
rs1030367156
|
|
NM_004415.4(DSP):c.4826C>T (p.Ala1609Val)
|
|
|
NM_004415.4(DSP):c.4842C>T (p.Asn1614=)
|
rs757848942
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
NM_004415.4(DSP):c.4866A>C (p.Ala1622=)
|
|
|
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
|
|
|
NM_004415.4(DSP):c.4881G>T (p.Lys1627Asn)
|
|
|
NM_004415.4(DSP):c.4899C>T (p.Leu1633=)
|
rs876657459
|
|
NM_004415.4(DSP):c.48C>A (p.Arg16=)
|
rs755777329
|
|
NM_004415.4(DSP):c.4922A>G (p.Asp1641Gly)
|
rs765847051
|
|
NM_004415.4(DSP):c.492C>G (p.Ala164=)
|
rs2113659755
|
|
NM_004415.4(DSP):c.4935G>A (p.Arg1645=)
|
rs751059120
|
|
NM_004415.4(DSP):c.4953G>A (p.Gln1651=)
|
rs2113695297
|
|
NM_004415.4(DSP):c.4971C>G (p.Leu1657=)
|
|
|
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
|
rs1290867734
|
|
NM_004415.4(DSP):c.5016G>A (p.Gln1672=)
|
rs1759428613
|
|
NM_004415.4(DSP):c.501G>C (p.Lys167Asn)
|
|
|
NM_004415.4(DSP):c.502G>A (p.Gly168Ser)
|
rs1308747530
|
|
NM_004415.4(DSP):c.5042G>A (p.Arg1681Lys)
|
rs1274117174
|
|
NM_004415.4(DSP):c.505G>T (p.Gly169Cys)
|
|
|
NM_004415.4(DSP):c.5061G>A (p.Lys1687=)
|
|
|
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn)
|
rs754404501
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
NM_004415.4(DSP):c.5064G>T (p.Ala1688=)
|
rs886061747
|
|
NM_004415.4(DSP):c.5071G>A (p.Asp1691Asn)
|
|
|
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
|
|
|
NM_004415.4(DSP):c.5116C>T (p.Leu1706=)
|
rs1759432452
|
|
NM_004415.4(DSP):c.5139G>A (p.Leu1713=)
|
rs1759433301
|
|
NM_004415.4(DSP):c.5142C>G (p.Thr1714=)
|
rs1275224079
|
|
NM_004415.4(DSP):c.5169A>G (p.Glu1723=)
|
rs1368627358
|
|
NM_004415.4(DSP):c.5172G>C (p.Leu1724=)
|
rs2113695733
|
|
NM_004415.4(DSP):c.5178C>T (p.Asn1726=)
|
|
|
NM_004415.4(DSP):c.5181G>A (p.Leu1727=)
|
rs1172441662
|
|
NM_004415.4(DSP):c.5188G>C (p.Glu1730Gln)
|
|
|
NM_004415.4(DSP):c.5196T>C (p.Asp1732=)
|
|
|
NM_004415.4(DSP):c.5205G>A (p.Arg1735=)
|
rs1561700008
|
|
NM_004415.4(DSP):c.5211A>G (p.Gly1737=)
|
rs1581819049
|
|
NM_004415.4(DSP):c.5223G>C (p.Ala1741=)
|
rs201984474
|
|
NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly)
|
|
|
NM_004415.4(DSP):c.5250G>A (p.Leu1750=)
|
|
|
NM_004415.4(DSP):c.5259G>A (p.Arg1753=)
|
rs2113695961
|
|
NM_004415.4(DSP):c.5268G>A (p.Leu1756=)
|
|
|
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln)
|
rs767885673
|
|
NM_004415.4(DSP):c.5304G>A (p.Gly1768=)
|
|
|
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys)
|
rs528041468
|
|
NM_004415.4(DSP):c.5355G>A (p.Glu1785=)
|
rs546610553
|
|
NM_004415.4(DSP):c.5364A>G (p.Gln1788=)
|
|
|
NM_004415.4(DSP):c.5379+8C>G
|
rs771984464
|
|
NM_004415.4(DSP):c.537C>T (p.Gly179=)
|
|
|
NM_004415.4(DSP):c.5380-16_5380-13del
|
|
|
NM_004415.4(DSP):c.5380-20_5380-13del
|
|
|
NM_004415.4(DSP):c.5380-6T>C
|
|
|
NM_004415.4(DSP):c.5380-8A>C
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
NM_004415.4(DSP):c.5442C>T (p.Ser1814=)
|
|
|
NM_004415.4(DSP):c.5448G>C (p.Leu1816=)
|
rs1270969886
|
|
NM_004415.4(DSP):c.5449G>A (p.Val1817Met)
|
|
|
NM_004415.4(DSP):c.5481A>G (p.Ala1827=)
|
|
|
NM_004415.4(DSP):c.5489A>G (p.Gln1830Arg)
|
|
|
NM_004415.4(DSP):c.5492G>A (p.Arg1831Lys)
|
|
|
NM_004415.4(DSP):c.54C>T (p.Ile18=)
|
|
|
NM_004415.4(DSP):c.5517A>G (p.Ala1839=)
|
rs764240800
|
|
NM_004415.4(DSP):c.5526T>C (p.Thr1842=)
|
rs2113698060
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
NM_004415.4(DSP):c.5553G>A (p.Gln1851=)
|
|
|
NM_004415.4(DSP):c.5598G>A (p.Gln1866=)
|
|
|
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)
|
rs777340009
|
|
NM_004415.4(DSP):c.564C>T (p.Thr188=)
|
rs2113659978
|
|
NM_004415.4(DSP):c.5669G>A (p.Arg1890Lys)
|
|
|
NM_004415.4(DSP):c.5679C>T (p.Asn1893=)
|
rs1367738238
|
|
NM_004415.4(DSP):c.5697C>T (p.Ile1899=)
|
rs879254348
|
|
NM_004415.4(DSP):c.5706C>G (p.Leu1902=)
|
rs879254349
|
|
NM_004415.4(DSP):c.5706C>T (p.Leu1902=)
|
|
|
NM_004415.4(DSP):c.5709A>G (p.Gln1903=)
|
|
|
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)
|
rs1473162721
|
|
NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)
|
|
|
NM_004415.4(DSP):c.5734A>C (p.Arg1912=)
|
|
|
NM_004415.4(DSP):c.5736G>A (p.Arg1912=)
|
rs371873840
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
NM_004415.4(DSP):c.5743C>A (p.Arg1915Ser)
|
|
|
NM_004415.4(DSP):c.5745T>C (p.Arg1915=)
|
rs2113698631
|
|
NM_004415.4(DSP):c.5748G>A (p.Lys1916=)
|
|
|
NM_004415.4(DSP):c.575T>C (p.Leu192Ser)
|
|
|
NM_004415.4(DSP):c.576G>A (p.Leu192=)
|
rs1758608540
|
|
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
|
|
|
NM_004415.4(DSP):c.5790A>C (p.Thr1930=)
|
|
|
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
|
|
|
NM_004415.4(DSP):c.57C>A (p.Arg19=)
|
rs2113628728
|
|
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val)
|
rs1430290356
|
|
NM_004415.4(DSP):c.5838A>G (p.Pro1946=)
|
|
|
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
|
|
|
NM_004415.4(DSP):c.5844G>C (p.Gly1948=)
|
|
|
NM_004415.4(DSP):c.5844G>T (p.Gly1948=)
|
|
|
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)
|
|
|
NM_004415.4(DSP):c.5859C>T (p.Thr1953=)
|
|
|
NM_004415.4(DSP):c.5892C>T (p.Ser1964=)
|
|
|
NM_004415.4(DSP):c.5898G>A (p.Leu1966=)
|
rs1026631797
|
|
NM_004415.4(DSP):c.5901G>T (p.Val1967=)
|
rs2113699039
|
|
NM_004415.4(DSP):c.5907T>C (p.Asp1969=)
|
|
|
NM_004415.4(DSP):c.5910G>A (p.Gly1970=)
|
|
|
NM_004415.4(DSP):c.5916G>A (p.Arg1972=)
|
rs1581821297
|
|
NM_004415.4(DSP):c.591G>A (p.Gln197=)
|
rs2113660086
|
|
NM_004415.4(DSP):c.5958C>A (p.Ile1986=)
|
|
|
NM_004415.4(DSP):c.597+15G>A
|
|
|
NM_004415.4(DSP):c.597+17A>G
|
rs779437301
|
|
NM_004415.4(DSP):c.597+19A>C
|
|
|
NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)
|
|
|
NM_004415.4(DSP):c.598-13_598-8del
|
|
|
NM_004415.4(DSP):c.598-19C>G
|
|
|
NM_004415.4(DSP):c.598-19C>T
|
|
|
NM_004415.4(DSP):c.598-4G>T
|
rs747448946
|
|
NM_004415.4(DSP):c.5982A>T (p.Leu1994=)
|
|
|
NM_004415.4(DSP):c.5988G>A (p.Lys1996=)
|
|
|
NM_004415.4(DSP):c.600G>A (p.Ala200=)
|
rs748400605
|
|
NM_004415.4(DSP):c.6021A>G (p.Glu2007=)
|
|
|
NM_004415.4(DSP):c.6028C>T (p.Pro2010Ser)
|
|
|
NM_004415.4(DSP):c.6034C>T (p.Leu2012Phe)
|
|
|
NM_004415.4(DSP):c.6037C>T (p.Arg2013Trp)
|
|
|
NM_004415.4(DSP):c.603G>A (p.Glu201=)
|
rs770080985
|
|
NM_004415.4(DSP):c.604A>G (p.Met202Val)
|
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
NM_004415.4(DSP):c.6063A>T (p.Ala2021=)
|
|
|
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
|
|
|
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
|
|
|
NM_004415.4(DSP):c.6075T>A (p.Pro2025=)
|
rs2113699490
|
|
NM_004415.4(DSP):c.6084A>G (p.Lys2028=)
|
rs2113699503
|
|
NM_004415.4(DSP):c.6090T>A (p.Ser2030=)
|
|
|
NM_004415.4(DSP):c.6105G>A (p.Lys2035=)
|
rs2113699553
|
|
NM_004415.4(DSP):c.6117A>G (p.Leu2039=)
|
|
|
NM_004415.4(DSP):c.6120C>T (p.Ile2040=)
|
|
|
NM_004415.4(DSP):c.6138C>A (p.Val2046=)
|
|
|
NM_004415.4(DSP):c.6171T>C (p.Gly2057=)
|
|
|
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
NM_004415.4(DSP):c.6207C>G (p.Val2069=)
|
|
|
NM_004415.4(DSP):c.6222T>G (p.Ala2074=)
|
rs1759520376
|
|
NM_004415.4(DSP):c.6231C>T (p.Leu2077=)
|
|
|
NM_004415.4(DSP):c.6237C>T (p.Asp2079=)
|
rs1309030788
|
|
NM_004415.4(DSP):c.6243T>C (p.Asp2081=)
|
rs1759521514
|
|
NM_004415.4(DSP):c.6260A>G (p.Tyr2087Cys)
|
rs1244910374
|
|
NM_004415.4(DSP):c.6262G>T (p.Ala2088Ser)
|
|
|
NM_004415.4(DSP):c.6297A>G (p.Pro2099=)
|
rs1759525136
|
|
NM_004415.4(DSP):c.6305G>T (p.Gly2102Val)
|
|
|
NM_004415.4(DSP):c.6306C>T (p.Gly2102=)
|
|
|
NM_004415.4(DSP):c.630C>T (p.Asp210=)
|
rs2113665093
|
|
NM_004415.4(DSP):c.6312A>G (p.Thr2104=)
|
|
|
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
|
|
|
NM_004415.4(DSP):c.6340A>G (p.Asn2114Asp)
|
rs561452524
|
|
NM_004415.4(DSP):c.6354A>G (p.Arg2118=)
|
|
|
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
|
|
|
NM_004415.4(DSP):c.6375G>A (p.Leu2125=)
|
rs2113700156
|
|
NM_004415.4(DSP):c.6378A>G (p.Glu2126=)
|
|
|
NM_004415.4(DSP):c.6395G>A (p.Gly2132Glu)
|
|
|
NM_004415.4(DSP):c.63G>A (p.Glu21=)
|
|
|
NM_004415.4(DSP):c.6408C>T (p.Asp2136=)
|
rs771641035
|
|
NM_004415.4(DSP):c.6417C>T (p.Asn2139=)
|
|
|
NM_004415.4(DSP):c.6432A>G (p.Pro2144=)
|
rs773730187
|
|
NM_004415.4(DSP):c.6432A>T (p.Pro2144=)
|
rs773730187
|
|
NM_004415.4(DSP):c.6441C>T (p.Val2147=)
|
rs762513279
|
|
NM_004415.4(DSP):c.6453G>A (p.Arg2151=)
|
|
|
NM_004415.4(DSP):c.6456G>A (p.Gly2152=)
|
|
|
NM_004415.4(DSP):c.6472T>C (p.Leu2158=)
|
rs1455927842
|
|
NM_004415.4(DSP):c.6477T>C (p.Tyr2159=)
|
rs1014118868
|
|
NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro)
|
rs146642551
|
|
NM_004415.4(DSP):c.6480A>T (p.Arg2160=)
|
|
|
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)
|
|
|
NM_004415.4(DSP):c.6483C>G (p.Ser2161=)
|
rs560775653
|
|
NM_004415.4(DSP):c.6495C>G (p.Pro2165=)
|
|
|
NM_004415.4(DSP):c.6501T>C (p.Asp2167=)
|
rs2113700524
|
|
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)
|
rs746533703
|
|
NM_004415.4(DSP):c.6552G>T (p.Val2184=)
|
rs2113700626
|
|
NM_004415.4(DSP):c.6555G>A (p.Gln2185=)
|
rs1759540115
|
|
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)
|
|
|
NM_004415.4(DSP):c.6565C>A (p.Arg2189=)
|
|
|
NM_004415.4(DSP):c.6565C>G (p.Arg2189Gly)
|
|
|
NM_004415.4(DSP):c.6567G>T (p.Arg2189=)
|
|
|
NM_004415.4(DSP):c.6570C>T (p.Cys2190=)
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
NM_004415.4(DSP):c.6576C>T (p.Ile2192=)
|
rs1032400756
|
|
NM_004415.4(DSP):c.6584A>G (p.His2195Arg)
|
|
|
NM_004415.4(DSP):c.6590G>A (p.Gly2197Asp)
|
|
|
NM_004415.4(DSP):c.6592C>T (p.Leu2198=)
|
rs752057967
|
|
NM_004415.4(DSP):c.6597C>G (p.Leu2199=)
|
|
|
NM_004415.4(DSP):c.6603T>G (p.Leu2201=)
|
rs758152190
|
|
NM_004415.4(DSP):c.6630C>T (p.Phe2210=)
|
|
|
NM_004415.4(DSP):c.6640A>C (p.Arg2214=)
|
|
|
NM_004415.4(DSP):c.6643C>A (p.Gln2215Lys)
|
|
|
NM_004415.4(DSP):c.6654C>G (p.Thr2218=)
|
rs727503005
|
|
NM_004415.4(DSP):c.6657C>T (p.Val2219=)
|
|
|
NM_004415.4(DSP):c.6669A>T (p.Val2223=)
|
|
|
NM_004415.4(DSP):c.666G>A (p.Arg222=)
|
|
|
NM_004415.4(DSP):c.666G>T (p.Arg222=)
|
rs2113665201
|
|
NM_004415.4(DSP):c.6675T>C (p.Ser2225=)
|
rs2113700866
|
|
NM_004415.4(DSP):c.6702T>C (p.Asn2234=)
|
rs2113700924
|
|
NM_004415.4(DSP):c.6723T>A (p.Ile2241=)
|
rs1219037519
|
|
NM_004415.4(DSP):c.6729T>C (p.Tyr2243=)
|
|
|
NM_004415.4(DSP):c.6732C>G (p.Asp2244Glu)
|
|
|
NM_004415.4(DSP):c.6744G>A (p.Glu2248=)
|
rs1581822997
|
|
NM_004415.4(DSP):c.6771A>G (p.Ser2257=)
|
rs2113701029
|
|
NM_004415.4(DSP):c.6785G>A (p.Gly2262Asp)
|
|
|
NM_004415.4(DSP):c.6828G>A (p.Glu2276=)
|
rs2113701105
|
|
NM_004415.4(DSP):c.6843C>T (p.Gly2281=)
|
|
|
NM_004415.4(DSP):c.6849C>G (p.Val2283=)
|
rs2113701124
|
|
NM_004415.4(DSP):c.684C>A (p.Ile228=)
|
|
|
NM_004415.4(DSP):c.684C>T (p.Ile228=)
|
rs753444512
|
|
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)
|
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
NM_004415.4(DSP):c.6865C>T (p.Leu2289=)
|
|
|
NM_004415.4(DSP):c.6871T>C (p.Leu2291=)
|
|
|
NM_004415.4(DSP):c.6873G>A (p.Leu2291=)
|
|
|
NM_004415.4(DSP):c.6885A>G (p.Gln2295=)
|
|
|
NM_004415.4(DSP):c.6894T>C (p.Thr2298=)
|
|
|
NM_004415.4(DSP):c.6918C>T (p.Ser2306=)
|
rs1275471884
|
|
NM_004415.4(DSP):c.6937G>A (p.Glu2313Lys)
|
rs1411539976
|
|
NM_004415.4(DSP):c.6945C>A (p.Ala2315=)
|
rs761888068
|
|
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)
|
rs777847026
|
|
NM_004415.4(DSP):c.6953G>C (p.Arg2318Thr)
|
rs773192441
|
|
NM_004415.4(DSP):c.6963G>A (p.Val2321=)
|
rs2113701399
|
|
NM_004415.4(DSP):c.6969T>C (p.Ile2323=)
|
|
|
NM_004415.4(DSP):c.6972G>A (p.Glu2324=)
|
rs2113701409
|
|
NM_004415.4(DSP):c.6993T>C (p.Ser2331=)
|
rs767282172
|
|
NM_004415.4(DSP):c.6C>T (p.Ser2=)
|
rs776052488
|
|
NM_004415.4(DSP):c.7014G>A (p.Gly2338=)
|
rs1054965369
|
|
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=)
|
rs753946358
|
|
NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)
|
|
|
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
|
rs768837509
|
|
NM_004415.4(DSP):c.7044C>T (p.Ile2348=)
|
rs2113701537
|
|
NM_004415.4(DSP):c.706G>C (p.Asp236His)
|
rs1044634464
|
|
NM_004415.4(DSP):c.7077C>A (p.Ile2359=)
|
|
|
NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser)
|
|
|
NM_004415.4(DSP):c.7128G>A (p.Gly2376=)
|
|
|
NM_004415.4(DSP):c.7131C>A (p.Ile2377=)
|
rs1581823562
|
|
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)
|
rs1396768987
|
|
NM_004415.4(DSP):c.7167C>T (p.Asp2389=)
|
rs2113701740
|
|
NM_004415.4(DSP):c.7176T>C (p.Tyr2392=)
|
|
|
NM_004415.4(DSP):c.7177A>C (p.Lys2393Gln)
|
|
|
NM_004415.4(DSP):c.717A>G (p.Lys239=)
|
|
|
NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)
|
|
|
NM_004415.4(DSP):c.7224A>C (p.Pro2408=)
|
rs376081052
|
|
NM_004415.4(DSP):c.726+11G>A
|
|
|
NM_004415.4(DSP):c.726+19T>C
|
|
|
NM_004415.4(DSP):c.726+20T>G
|
|
|
NM_004415.4(DSP):c.726+9_726+12del
|
|
|
NM_004415.4(DSP):c.7269T>C (p.Asn2423=)
|
rs1759564582
|
|
NM_004415.4(DSP):c.727-12del
|
rs2113666826
|
|
NM_004415.4(DSP):c.727-13T>C
|
rs1293172796
|
|
NM_004415.4(DSP):c.727-20T>G
|
|
|
NM_004415.4(DSP):c.727-5_727-3del
|
|
|
NM_004415.4(DSP):c.727-6T>C
|
|
|
NM_004415.4(DSP):c.727-9G>C
|
|
|
NM_004415.4(DSP):c.7284A>G (p.Gln2428=)
|
rs1759565168
|
|
NM_004415.4(DSP):c.7295G>T (p.Arg2432Ile)
|
|
|
NM_004415.4(DSP):c.7299C>T (p.Cys2433=)
|
rs2113702040
|
|
NM_004415.4(DSP):c.729C>G (p.Arg243=)
|
rs141028505
|
|
NM_004415.4(DSP):c.7307A>T (p.Asp2436Val)
|
|
|
NM_004415.4(DSP):c.7320G>C (p.Gly2440=)
|
|
|
NM_004415.4(DSP):c.7335T>A (p.Pro2445=)
|
rs1262869578
|
|
NM_004415.4(DSP):c.7359G>A (p.Val2453=)
|
rs2113702163
|
|
NM_004415.4(DSP):c.735A>G (p.Lys245=)
|
|
|
NM_004415.4(DSP):c.7374G>T (p.Lys2458Asn)
|
|
|
NM_004415.4(DSP):c.7410C>T (p.Asp2470=)
|
rs2113702276
|
|
NM_004415.4(DSP):c.741G>C (p.Ala247=)
|
|
|
NM_004415.4(DSP):c.7443G>A (p.Glu2481=)
|
rs2113702324
|
|
NM_004415.4(DSP):c.7449C>T (p.Tyr2483=)
|
|
|
NM_004415.4(DSP):c.7458C>T (p.Gly2486=)
|
rs1049252239
|
|
NM_004415.4(DSP):c.7488G>C (p.Leu2496=)
|
|
|
NM_004415.4(DSP):c.7497G>A (p.Gln2499=)
|
|
|
NM_004415.4(DSP):c.7521C>T (p.Thr2507=)
|
|
|
NM_004415.4(DSP):c.7546A>C (p.Arg2516=)
|
|
|
NM_004415.4(DSP):c.7554C>A (p.Val2518=)
|
rs573057380
|
|
NM_004415.4(DSP):c.7554C>T (p.Val2518=)
|
|
|
NM_004415.4(DSP):c.7557G>T (p.Leu2519=)
|
|
|
NM_004415.4(DSP):c.7581G>A (p.Gln2527=)
|
rs879254350
|
|
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
|
rs768564872
|
|
NM_004415.4(DSP):c.7608G>A (p.Lys2536=)
|
rs2113702785
|
|
NM_004415.4(DSP):c.7611C>T (p.Gly2537=)
|
|
|
NM_004415.4(DSP):c.7615G>A (p.Val2539Ile)
|
|
|
NM_004415.4(DSP):c.7621A>C (p.Arg2541=)
|
|
|
NM_004415.4(DSP):c.7638G>A (p.Gln2546=)
|
|
|
NM_004415.4(DSP):c.7641C>T (p.Tyr2547=)
|
|
|
NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln)
|
rs377565339
|
|
NM_004415.4(DSP):c.7647C>T (p.Ser2549=)
|
rs765385403
|
|
NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser)
|
rs781151826
|
|
NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg)
|
rs781151826
|
|
NM_004415.4(DSP):c.7650C>G (p.Gly2550=)
|
|
|
NM_004415.4(DSP):c.7656C>T (p.Leu2552=)
|
rs954061184
|
|
NM_004415.4(DSP):c.7665T>A (p.Thr2555=)
|
|
|
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu)
|
rs760434412
|
|
NM_004415.4(DSP):c.7668A>G (p.Gln2556=)
|
|
|
NM_004415.4(DSP):c.7701C>G (p.Val2567=)
|
|
|
NM_004415.4(DSP):c.7706C>T (p.Thr2569Ile)
|
rs770464104
|
|
NM_004415.4(DSP):c.7716C>T (p.Ser2572=)
|
rs773824736
|
|
NM_004415.4(DSP):c.7725T>C (p.Ser2575=)
|
|
|
NM_004415.4(DSP):c.7728T>G (p.Gly2576=)
|
rs545149894
|
|
NM_004415.4(DSP):c.774G>A (p.Leu258=)
|
|
|
NM_004415.4(DSP):c.7752C>T (p.Ser2584=)
|
rs1554109092
|
|
NM_004415.4(DSP):c.7758A>G (p.Arg2586=)
|
rs1581824761
|
|
NM_004415.4(DSP):c.777+19C>T
|
|
|
NM_004415.4(DSP):c.777+7T>C
|
|
|
NM_004415.4(DSP):c.7779T>A (p.Ile2593=)
|
|
|
NM_004415.4(DSP):c.778-11C>T
|
rs766022259
|
|
NM_004415.4(DSP):c.778-15G>A
|
rs2113669114
|
|
NM_004415.4(DSP):c.778-20C>A
|
|
|
NM_004415.4(DSP):c.778-6G>T
|
rs1561685227
|
|
NM_004415.4(DSP):c.7809C>T (p.Thr2603=)
|
|
|
NM_004415.4(DSP):c.780A>G (p.Lys260=)
|
rs1554106489
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe)
|
rs777066674
|
|
NM_004415.4(DSP):c.7833C>T (p.Asp2611=)
|
|
|
NM_004415.4(DSP):c.7836C>G (p.Thr2612=)
|
|
|
NM_004415.4(DSP):c.7837C>T (p.Leu2613=)
|
rs1286275087
|
|
NM_004415.4(DSP):c.7839G>A (p.Leu2613=)
|
rs770324205
|
|
NM_004415.4(DSP):c.7893C>A (p.Ile2631=)
|
rs778552693
|
|
NM_004415.4(DSP):c.7893C>T (p.Ile2631=)
|
rs778552693
|
|
NM_004415.4(DSP):c.78G>A (p.Leu26=)
|
|
|
NM_004415.4(DSP):c.78G>T (p.Leu26=)
|
rs71559180
|
|
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
|
|
|
NM_004415.4(DSP):c.7935C>T (p.Ile2645=)
|
|
|
NM_004415.4(DSP):c.7938G>A (p.Thr2646=)
|
|
|
NM_004415.4(DSP):c.7947G>A (p.Arg2649=)
|
|
|
NM_004415.4(DSP):c.7951C>T (p.Leu2651=)
|
|
|
NM_004415.4(DSP):c.7963G>T (p.Ala2655Ser)
|
|
|
NM_004415.4(DSP):c.7968C>T (p.Cys2656=)
|
rs2113703768
|
|
NM_004415.4(DSP):c.7971A>G (p.Thr2657=)
|
rs2113703783
|
|
NM_004415.4(DSP):c.7986C>T (p.His2662=)
|
rs753720770
|
|
NM_004415.4(DSP):c.7989A>G (p.Pro2663=)
|
|
|
NM_004415.4(DSP):c.7995G>C (p.Thr2665=)
|
|
|
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)
|
rs750085948
|
|
NM_004415.4(DSP):c.79C>T (p.Arg27Cys)
|
|
|
NM_004415.4(DSP):c.8004G>A (p.Lys2668=)
|
rs1581825294
|
|
NM_004415.4(DSP):c.8007G>A (p.Leu2669=)
|
rs746561567
|
|
NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly)
|
rs778480531
|
|
NM_004415.4(DSP):c.8035G>A (p.Val2679Met)
|
|
|
NM_004415.4(DSP):c.8064G>A (p.Leu2688=)
|
rs1581825424
|
|
NM_004415.4(DSP):c.8067G>C (p.Lys2689Asn)
|
|
|
NM_004415.4(DSP):c.807G>A (p.Leu269=)
|
|
|
NM_004415.4(DSP):c.8095G>C (p.Glu2699Gln)
|
|
|
NM_004415.4(DSP):c.8097G>A (p.Glu2699=)
|
rs1478062594
|
|
NM_004415.4(DSP):c.8106G>A (p.Lys2702=)
|
|
|
NM_004415.4(DSP):c.8115G>A (p.Lys2705=)
|
rs1759619330
|
|
NM_004415.4(DSP):c.8130A>G (p.Ala2710=)
|
rs1440748149
|
|
NM_004415.4(DSP):c.8133G>A (p.Glu2711=)
|
rs375348086
|
|
NM_004415.4(DSP):c.8139G>A (p.Val2713=)
|
|
|
NM_004415.4(DSP):c.8139G>C (p.Val2713=)
|
rs555992606
|
|
NM_004415.4(DSP):c.8148A>G (p.Lys2716=)
|
|
|
NM_004415.4(DSP):c.8169C>G (p.Gly2723=)
|
rs1259495339
|
|
NM_004415.4(DSP):c.8178C>T (p.Phe2726=)
|
rs901698792
|
|
NM_004415.4(DSP):c.8187C>T (p.Phe2729=)
|
rs369619485
|
|
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)
|
rs145085696
|
|
NM_004415.4(DSP):c.8199G>T (p.Thr2733=)
|
|
|
NM_004415.4(DSP):c.81C>A (p.Arg27=)
|
rs773559423
|
|
NM_004415.4(DSP):c.81C>G (p.Arg27=)
|
|
|
NM_004415.4(DSP):c.8211T>G (p.Val2737=)
|
rs543240936
|
|
NM_004415.4(DSP):c.8232G>A (p.Arg2744=)
|
rs780253169
|
|
NM_004415.4(DSP):c.8238C>T (p.Ser2746=)
|
rs781351433
|
|
NM_004415.4(DSP):c.8241C>G (p.Thr2747=)
|
|
|
NM_004415.4(DSP):c.8241C>T (p.Thr2747=)
|
|
|
NM_004415.4(DSP):c.8253C>A (p.Ile2751=)
|
rs1165200201
|
|
NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)
|
|
|
NM_004415.4(DSP):c.8262G>A (p.Gly2754=)
|
rs187226788
|
|
NM_004415.4(DSP):c.8262G>T (p.Gly2754=)
|
rs187226788
|
|
NM_004415.4(DSP):c.8271T>C (p.Asp2757=)
|
|
|
NM_004415.4(DSP):c.8280C>T (p.Ala2760=)
|
rs1203424345
|
|
NM_004415.4(DSP):c.82T>C (p.Tyr28His)
|
|
|
NM_004415.4(DSP):c.8301C>T (p.Thr2767=)
|
|
|
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
|
|
|
NM_004415.4(DSP):c.8313C>T (p.Ala2771=)
|
|
|
NM_004415.4(DSP):c.8316A>G (p.Lys2772=)
|
rs2113704844
|
|
NM_004415.4(DSP):c.8320C>T (p.Leu2774=)
|
rs397516964
|
|
NM_004415.4(DSP):c.8322G>A (p.Leu2774=)
|
rs1455098095
|
|
NM_004415.4(DSP):c.8324C>T (p.Thr2775Ile)
|
|
|
NM_004415.4(DSP):c.8325C>G (p.Thr2775=)
|
rs2113704869
|
|
NM_004415.4(DSP):c.8328C>T (p.Cys2776=)
|
|
|
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
|
|
|
NM_004415.4(DSP):c.8354A>G (p.Tyr2785Cys)
|
|
|
NM_004415.4(DSP):c.8382A>G (p.Val2794=)
|
rs1025921677
|
|
NM_004415.4(DSP):c.8388T>C (p.Asp2796=)
|
rs1478242707
|
|
NM_004415.4(DSP):c.8391C>A (p.Ile2797=)
|
rs372909009
|
|
NM_004415.4(DSP):c.8403C>G (p.Arg2801=)
|
|
|
NM_004415.4(DSP):c.8414C>T (p.Ala2805Val)
|
|
|
NM_004415.4(DSP):c.8418C>A (p.Ala2806=)
|
rs1581826536
|
|
NM_004415.4(DSP):c.843G>A (p.Arg281=)
|
rs1427960878
|
|
NM_004415.4(DSP):c.8442C>A (p.Pro2814=)
|
rs1581826610
|
|
NM_004415.4(DSP):c.8442C>T (p.Pro2814=)
|
rs1581826610
|
|
NM_004415.4(DSP):c.8451C>T (p.Tyr2817=)
|
|
|
NM_004415.4(DSP):c.8463G>A (p.Ser2821=)
|
|
|
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4])
|
rs397516967
|
|
NM_004415.4(DSP):c.8476C>G (p.Arg2826Gly)
|
rs139969658
|
|
NM_004415.4(DSP):c.8478C>T (p.Arg2826=)
|
|
|
NM_004415.4(DSP):c.8481C>G (p.Ser2827=)
|
|
|
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])
|
rs397516968
|
|
NM_004415.4(DSP):c.8484C>T (p.Gly2828=)
|
rs1467235605
|
|
NM_004415.4(DSP):c.8487_8498del (p.2827_2830SGSR[4])
|
rs727504704
|
|
NM_004415.4(DSP):c.8490C>A (p.Arg2830=)
|
rs1221382084
|
|
NM_004415.4(DSP):c.8493G>A (p.Ser2831=)
|
rs397516969
|
|
NM_004415.4(DSP):c.8493_8504del (p.2827SGSR[4])
|
rs748194022
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
NM_004415.4(DSP):c.8499T>C (p.Ser2833=)
|
rs1468666445
|
|
NM_004415.4(DSP):c.8505C>G (p.Ser2835=)
|
|
|
NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)
|
|
|
NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=)
|
rs1554109285
|
|
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys)
|
rs750438076
|
|
NM_004415.4(DSP):c.8517C>G (p.Ser2839=)
|
|
|
NM_004415.4(DSP):c.8526C>T (p.Arg2842=)
|
|
|
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4])
|
rs794728151
|
|
NM_004415.4(DSP):c.8544A>T (p.Gly2848=)
|
|
|
NM_004415.4(DSP):c.8553C>T (p.Asp2851=)
|
rs1554109307
|
|
NM_004415.4(DSP):c.8556C>T (p.Ala2852=)
|
rs1163538965
|
|
NM_004415.4(DSP):c.8559A>C (p.Thr2853=)
|
rs1759653585
|
|
NM_004415.4(DSP):c.8559A>G (p.Thr2853=)
|
rs1759653585
|
|
NM_004415.4(DSP):c.8582C>T (p.Ser2861Phe)
|
rs1269834512
|
|
NM_004415.4(DSP):c.8586C>T (p.Tyr2862=)
|
|
|
NM_004415.4(DSP):c.8598T>C (p.Ser2866=)
|
|
|
NM_004415.4(DSP):c.85G>A (p.Glu29Lys)
|
|
|
NM_004415.4(DSP):c.8601T>C (p.Ser2867=)
|
|
|
NM_004415.4(DSP):c.882G>A (p.Leu294=)
|
rs2113669406
|
|
NM_004415.4(DSP):c.891C>T (p.Asp297=)
|
rs2113669443
|
|
NM_004415.4(DSP):c.90G>A (p.Val30=)
|
|
|
NM_004415.4(DSP):c.939+11C>G
|
|
|
NM_004415.4(DSP):c.939+11C>T
|
|
|
NM_004415.4(DSP):c.939+13C>A
|
|
|
NM_004415.4(DSP):c.939+13dup
|
rs730880360
|
|
NM_004415.4(DSP):c.939+15C>T
|
|
|
NM_004415.4(DSP):c.939+18G>A
|
|
|
NM_004415.4(DSP):c.939+20C>T
|
|
|
NM_004415.4(DSP):c.939+3_939+6dup
|
|
|
NM_004415.4(DSP):c.939+8C>G
|
|
|
NM_004415.4(DSP):c.939+9A>G
|
|
|
NM_004415.4(DSP):c.940-11T>C
|
|
|
NM_004415.4(DSP):c.940-12C>T
|
rs2113670873
|
|
NM_004415.4(DSP):c.944G>T (p.Arg315Leu)
|
rs558825586
|
|
NM_004415.4(DSP):c.945C>T (p.Arg315=)
|
|
|
NM_004415.4(DSP):c.955C>T (p.Leu319=)
|
rs777852039
|
|
NM_004415.4(DSP):c.96C>T (p.Ser32=)
|
rs1440994214
|
|
NM_004415.4(DSP):c.971A>G (p.Lys324Arg)
|
|
|
NM_004415.4(DSP):c.992A>G (p.Gln331Arg)
|
rs746517026
|
|
NM_004415.4(DSP):c.99C>T (p.Gly33=)
|
rs755898551
|
|
NM_006073.4(TRDN):c.1002T>C (p.Asp334=)
|
rs2114593337
|
|
NM_006073.4(TRDN):c.1051+10_1051+11insTGTT
|
|
|
NM_006073.4(TRDN):c.1051+13_1051+16del
|
rs779871731
|
|
NM_006073.4(TRDN):c.1051+14T>G
|
rs2114593071
|
|
NM_006073.4(TRDN):c.1051+18T>C
|
|
|
NM_006073.4(TRDN):c.1051+20T>C
|
rs1436980557
|
|
NM_006073.4(TRDN):c.1051+7C>T
|
|
|
NM_006073.4(TRDN):c.1051+8A>T
|
|
|
NM_006073.4(TRDN):c.1051+9C>T
|
|
|
NM_006073.4(TRDN):c.1052-15T>C
|
|
|
NM_006073.4(TRDN):c.1052-16T>A
|
rs2114461669
|
|
NM_006073.4(TRDN):c.1052-18T>A
|
|
|
NM_006073.4(TRDN):c.1052-18T>C
|
|
|
NM_006073.4(TRDN):c.1052-19_1052-18del
|
rs2114461686
|
|
NM_006073.4(TRDN):c.1052-9C>A
|
rs765883002
|
|
NM_006073.4(TRDN):c.1052-9C>T
|
rs765883002
|
|
NM_006073.4(TRDN):c.1056G>A (p.Pro352=)
|
|
|
NM_006073.4(TRDN):c.1056G>T (p.Pro352=)
|
rs558713666
|
|
NM_006073.4(TRDN):c.1105+11A>G
|
|
|
NM_006073.4(TRDN):c.1106-19G>A
|
rs754623877
|
|
NM_006073.4(TRDN):c.1106-19G>T
|
rs754623877
|
|
NM_006073.4(TRDN):c.1106-20C>T
|
|
|
NM_006073.4(TRDN):c.1106-5T>C
|
|
|
NM_006073.4(TRDN):c.1131G>A (p.Lys377=)
|
rs1370845470
|
|
NM_006073.4(TRDN):c.1165+9C>A
|
|
|
NM_006073.4(TRDN):c.1186+12C>T
|
|
|
NM_006073.4(TRDN):c.1186+13A>G
|
|
|
NM_006073.4(TRDN):c.1187-13T>C
|
|
|
NM_006073.4(TRDN):c.1187-15A>G
|
|
|
NM_006073.4(TRDN):c.1187-19C>G
|
|
|
NM_006073.4(TRDN):c.1187-19C>T
|
|
|
NM_006073.4(TRDN):c.1187-31TAA[3]
|
|
|
NM_006073.4(TRDN):c.1209T>C (p.His403=)
|
|
|
NM_006073.4(TRDN):c.1219+7_1219+8del
|
rs2114402886
|
|
NM_006073.4(TRDN):c.1220-12T>C
|
|
|
NM_006073.4(TRDN):c.1220-17T>C
|
|
|
NM_006073.4(TRDN):c.1233G>A (p.Lys411=)
|
|
|
NM_006073.4(TRDN):c.123G>A (p.Val41=)
|
rs546801443
|
|
NM_006073.4(TRDN):c.1246+10A>G
|
rs377411184
|
|
NM_006073.4(TRDN):c.1246+11C>A
|
|
|
NM_006073.4(TRDN):c.1246+12C>G
|
|
|
NM_006073.4(TRDN):c.1246+15T>C
|
|
|
NM_006073.4(TRDN):c.1247-19T>G
|
|
|
NM_006073.4(TRDN):c.1247-20T>C
|
|
|
NM_006073.4(TRDN):c.1247-8A>G
|
|
|
NM_006073.4(TRDN):c.1247-9C>T
|
|
|
NM_006073.4(TRDN):c.1248T>C (p.Val416=)
|
|
|
NM_006073.4(TRDN):c.126G>T (p.Thr42=)
|
rs774324909
|
|
NM_006073.4(TRDN):c.1273+16T>G
|
|
|
NM_006073.4(TRDN):c.1273+7T>G
|
rs1324451489
|
|
NM_006073.4(TRDN):c.1273+8G>T
|
rs1781473593
|
|
NM_006073.4(TRDN):c.1274-11T>C
|
|
|
NM_006073.4(TRDN):c.1278T>C (p.Thr426=)
|
|
|
NM_006073.4(TRDN):c.1321+10G>A
|
|
|
NM_006073.4(TRDN):c.1321+10G>T
|
|
|
NM_006073.4(TRDN):c.1321+11C>A
|
|
|
NM_006073.4(TRDN):c.1321+11C>G
|
rs920771213
|
|
NM_006073.4(TRDN):c.1321+17G>A
|
|
|
NM_006073.4(TRDN):c.1321+17G>T
|
|
|
NM_006073.4(TRDN):c.1321+19T>C
|
|
|
NM_006073.4(TRDN):c.1321+9A>G
|
|
|
NM_006073.4(TRDN):c.1322-21_1322-20del
|
rs753927173
|
|
NM_006073.4(TRDN):c.1322-9_1322-6dup
|
|
|
NM_006073.4(TRDN):c.1329T>C (p.Pro443=)
|
rs2114299916
|
|
NM_006073.4(TRDN):c.1362G>A (p.Val454=)
|
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
NM_006073.4(TRDN):c.1369+11A>G
|
|
|
NM_006073.4(TRDN):c.1369+15A>G
|
|
|
NM_006073.4(TRDN):c.1369+16G>A
|
|
|
NM_006073.4(TRDN):c.1369+20G>A
|
|
|
NM_006073.4(TRDN):c.1370-19C>T
|
|
|
NM_006073.4(TRDN):c.1370-20_1370-8del
|
|
|
NM_006073.4(TRDN):c.138C>T (p.Ser46=)
|
|
|
NM_006073.4(TRDN):c.1395G>A (p.Lys465=)
|
|
|
NM_006073.4(TRDN):c.1410G>A (p.Leu470=)
|
rs768291815
|
|
NM_006073.4(TRDN):c.1410G>T (p.Leu470=)
|
rs768291815
|
|
NM_006073.4(TRDN):c.1416T>C (p.Asp472=)
|
rs1464407707
|
|
NM_006073.4(TRDN):c.1420+17A>G
|
|
|
NM_006073.4(TRDN):c.1420+17A>T
|
|
|
NM_006073.4(TRDN):c.1420+18A>C
|
|
|
NM_006073.4(TRDN):c.1420+18A>G
|
|
|
NM_006073.4(TRDN):c.1420+8_1420+9del
|
rs1254777827
|
|
NM_006073.4(TRDN):c.1421-13T>C
|
|
|
NM_006073.4(TRDN):c.1421-14A>G
|
|
|
NM_006073.4(TRDN):c.1421-16C>T
|
|
|
NM_006073.4(TRDN):c.1421-19G>C
|
|
|
NM_006073.4(TRDN):c.1431A>G (p.Lys477=)
|
|
|
NM_006073.4(TRDN):c.1458C>A (p.Ser486=)
|
|
|
NM_006073.4(TRDN):c.1458C>G (p.Ser486=)
|
rs1365899783
|
|
NM_006073.4(TRDN):c.1471+10T>A
|
rs1408593994
|
|
NM_006073.4(TRDN):c.1471+10T>C
|
|
|
NM_006073.4(TRDN):c.1471+14A>G
|
|
|
NM_006073.4(TRDN):c.1471+15T>C
|
|
|
NM_006073.4(TRDN):c.1471+16G>A
|
|
|
NM_006073.4(TRDN):c.1471+20T>C
|
|
|
NM_006073.4(TRDN):c.1471+8_1471+10del
|
|
|
NM_006073.4(TRDN):c.1472-4C>T
|
|
|
NM_006073.4(TRDN):c.1472-5C>T
|
rs2114699560
|
|
NM_006073.4(TRDN):c.147C>A (p.Ala49=)
|
rs1554258804
|
|
NM_006073.4(TRDN):c.1503C>T (p.Ser501=)
|
|
|
NM_006073.4(TRDN):c.1510+14G>A
|
|
|
NM_006073.4(TRDN):c.1510+14G>T
|
|
|
NM_006073.4(TRDN):c.1510+17A>G
|
|
|
NM_006073.4(TRDN):c.1511-11C>T
|
|
|
NM_006073.4(TRDN):c.1511-12A>C
|
|
|
NM_006073.4(TRDN):c.1511-14T>C
|
rs1252673540
|
|
NM_006073.4(TRDN):c.1511-20A>G
|
|
|
NM_006073.4(TRDN):c.1511-20A>T
|
rs773044428
|
|
NM_006073.4(TRDN):c.1511-9T>C
|
|
|
NM_006073.4(TRDN):c.1512C>T (p.Gly504=)
|
|
|
NM_006073.4(TRDN):c.1537+16G>A
|
|
|
NM_006073.4(TRDN):c.1537+17C>A
|
|
|
NM_006073.4(TRDN):c.1537+18T>A
|
|
|
NM_006073.4(TRDN):c.1537+18_1537+19insTAAA
|
|
|
NM_006073.4(TRDN):c.1537+19C>T
|
|
|
NM_006073.4(TRDN):c.1538-12C>G
|
|
|
NM_006073.4(TRDN):c.1538-17T>C
|
|
|
NM_006073.4(TRDN):c.1538-19T>C
|
rs142237914
|
|
NM_006073.4(TRDN):c.153T>C (p.Leu51=)
|
|
|
NM_006073.4(TRDN):c.1545A>G (p.Gln515=)
|
|
|
NM_006073.4(TRDN):c.1548A>G (p.Gly516=)
|
|
|
NM_006073.4(TRDN):c.1560G>A (p.Glu520=)
|
|
|
NM_006073.4(TRDN):c.1567+10T>A
|
rs2114626071
|
|
NM_006073.4(TRDN):c.1567+16T>G
|
|
|
NM_006073.4(TRDN):c.1567+19_1567+20del
|
|
|
NM_006073.4(TRDN):c.1567+9A>G
|
|
|
NM_006073.4(TRDN):c.1568-14T>C
|
|
|
NM_006073.4(TRDN):c.1568-15T>C
|
|
|
NM_006073.4(TRDN):c.1568-16C>T
|
|
|
NM_006073.4(TRDN):c.1568-17C>A
|
|
|
NM_006073.4(TRDN):c.1568-18G>A
|
|
|
NM_006073.4(TRDN):c.1568-20del
|
|
|
NM_006073.4(TRDN):c.1568-5C>T
|
|
|
NM_006073.4(TRDN):c.156G>C (p.Leu52=)
|
|
|
NM_006073.4(TRDN):c.156G>T (p.Leu52=)
|
|
|
NM_006073.4(TRDN):c.1584A>G (p.Lys528=)
|
|
|
NM_006073.4(TRDN):c.1597+10G>A
|
rs150165710
|
|
NM_006073.4(TRDN):c.1597+11C>T
|
|
|
NM_006073.4(TRDN):c.1597+15A>G
|
|
|
NM_006073.4(TRDN):c.1598-12T>C
|
|
|
NM_006073.4(TRDN):c.1598-12T>G
|
|
|
NM_006073.4(TRDN):c.1598-15ATTT[2]
|
|
|
NM_006073.4(TRDN):c.1598-15_1598-13del
|
|
|
NM_006073.4(TRDN):c.1598-16T>A
|
|
|
NM_006073.4(TRDN):c.1598-16T>C
|
|
|
NM_006073.4(TRDN):c.1598-18_1598-14del
|
|
|
NM_006073.4(TRDN):c.1598-20A>G
|
|
|
NM_006073.4(TRDN):c.1598-20_1598-19del
|
rs1463323606
|
|
NM_006073.4(TRDN):c.1598-23_1598-19del
|
rs1282710403
|
|
NM_006073.4(TRDN):c.1598-4_1598-3insTTTAT
|
|
|
NM_006073.4(TRDN):c.159C>A (p.Val53=)
|
|
|
NM_006073.4(TRDN):c.1608A>G (p.Glu536=)
|
rs2114616513
|
|
NM_006073.4(TRDN):c.1624+20T>C
|
|
|
NM_006073.4(TRDN):c.1624+9T>A
|
|
|
NM_006073.4(TRDN):c.1625-11A>C
|
|
|
NM_006073.4(TRDN):c.1626A>G (p.Lys542=)
|
|
|
NM_006073.4(TRDN):c.1629A>G (p.Gln543=)
|
rs2114615817
|
|
NM_006073.4(TRDN):c.162T>C (p.Ile54=)
|
|
|
NM_006073.4(TRDN):c.1632C>T (p.Asp544=)
|
|
|
NM_006073.4(TRDN):c.1662T>C (p.His554=)
|
|
|
NM_006073.4(TRDN):c.1672+13T>C
|
|
|
NM_006073.4(TRDN):c.1672+20T>C
|
|
|
NM_006073.4(TRDN):c.1673-10C>T
|
|
|
NM_006073.4(TRDN):c.168G>A (p.Leu56=)
|
rs1290905998
|
|
NM_006073.4(TRDN):c.1701T>G (p.Ala567=)
|
rs1208419306
|
|
NM_006073.4(TRDN):c.1707A>G (p.Thr569=)
|
|
|
NM_006073.4(TRDN):c.1720+10G>T
|
rs1582805166
|
|
NM_006073.4(TRDN):c.1720+9G>A
|
|
|
NM_006073.4(TRDN):c.1721-10T>C
|
rs2114610669
|
|
NM_006073.4(TRDN):c.1721-11A>G
|
rs1356432525
|
|
NM_006073.4(TRDN):c.1721-16C>T
|
|
|
NM_006073.4(TRDN):c.1721-18_1721-16dup
|
|
|
NM_006073.4(TRDN):c.1721-4A>T
|
rs60743141
|
|
NM_006073.4(TRDN):c.1721-6C>T
|
|
|
NM_006073.4(TRDN):c.1738+10G>A
|
|
|
NM_006073.4(TRDN):c.1738+12A>G
|
|
|
NM_006073.4(TRDN):c.1738+20A>G
|
|
|
NM_006073.4(TRDN):c.1739-15G>T
|
|
|
NM_006073.4(TRDN):c.1739-16T>G
|
|
|
NM_006073.4(TRDN):c.1739-17T>C
|
|
|
NM_006073.4(TRDN):c.1770A>C (p.Pro590=)
|
rs2114606782
|
|
NM_006073.4(TRDN):c.177G>A (p.Thr59=)
|
|
|
NM_006073.4(TRDN):c.1783+16T>C
|
|
|
NM_006073.4(TRDN):c.1783+8A>G
|
|
|
NM_006073.4(TRDN):c.1784-16del
|
rs1181050406
|
|
NM_006073.4(TRDN):c.1784-18T>C
|
|
|
NM_006073.4(TRDN):c.1784-4T>C
|
|
|
NM_006073.4(TRDN):c.1784-7T>C
|
|
|
NM_006073.4(TRDN):c.1784-7T>G
|
|
|
NM_006073.4(TRDN):c.1784-8C>G
|
rs759126653
|
|
NM_006073.4(TRDN):c.1784-9C>A
|
|
|
NM_006073.4(TRDN):c.1804+10C>T
|
|
|
NM_006073.4(TRDN):c.1804+17A>G
|
|
|
NM_006073.4(TRDN):c.1804+8T>C
|
|
|
NM_006073.4(TRDN):c.1805-18T>C
|
|
|
NM_006073.4(TRDN):c.1805-19_1805-18insC
|
|
|
NM_006073.4(TRDN):c.1805-22_1805-19del
|
|
|
NM_006073.4(TRDN):c.1805-4A>T
|
|
|
NM_006073.4(TRDN):c.1805-5_1805-4insTT
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4del
|
rs2114588768
|
|
NM_006073.4(TRDN):c.1805-6dup
|
|
|
NM_006073.4(TRDN):c.1805-7T>C
|
|
|
NM_006073.4(TRDN):c.1831+11dup
|
|
|
NM_006073.4(TRDN):c.1831+17T>A
|
rs953116640
|
|
NM_006073.4(TRDN):c.1831+9T>C
|
|
|
NM_006073.4(TRDN):c.1831+9T>G
|
|
|
NM_006073.4(TRDN):c.1832-11C>A
|
|
|
NM_006073.4(TRDN):c.1832-4C>T
|
|
|
NM_006073.4(TRDN):c.1832-5C>G
|
|
|
NM_006073.4(TRDN):c.1832-5C>T
|
|
|
NM_006073.4(TRDN):c.1845T>C (p.Thr615=)
|
|
|
NM_006073.4(TRDN):c.1857A>G (p.Glu619=)
|
|
|
NM_006073.4(TRDN):c.1860A>G (p.Lys620=)
|
|
|
NM_006073.4(TRDN):c.1870+11C>T
|
|
|
NM_006073.4(TRDN):c.1870+19G>C
|
|
|
NM_006073.4(TRDN):c.1870+19G>T
|
|
|
NM_006073.4(TRDN):c.1871-20T>C
|
|
|
NM_006073.4(TRDN):c.1871-6A>C
|
|
|
NM_006073.4(TRDN):c.1881C>T (p.Asp627=)
|
rs1776538992
|
|
NM_006073.4(TRDN):c.1887G>A (p.Lys629=)
|
|
|
NM_006073.4(TRDN):c.1906+10del
|
rs1371429325
|
|
NM_006073.4(TRDN):c.1906+17A>G
|
|
|
NM_006073.4(TRDN):c.1906+8T>C
|
|
|
NM_006073.4(TRDN):c.1907-16T>C
|
|
|
NM_006073.4(TRDN):c.1907-29_1907-15del
|
|
|
NM_006073.4(TRDN):c.1907-7T>C
|
|
|
NM_006073.4(TRDN):c.1938C>T (p.His646=)
|
|
|
NM_006073.4(TRDN):c.1951+13T>G
|
rs2114576557
|
|
NM_006073.4(TRDN):c.1951+9G>A
|
|
|
NM_006073.4(TRDN):c.1952-15del
|
rs2114570805
|
|
NM_006073.4(TRDN):c.1952-19A>T
|
|
|
NM_006073.4(TRDN):c.1971A>G (p.Val657=)
|
|
|
NM_006073.4(TRDN):c.1975+10G>T
|
|
|
NM_006073.4(TRDN):c.1975+13T>C
|
|
|
NM_006073.4(TRDN):c.1975+7A>G
|
|
|
NM_006073.4(TRDN):c.1976-11C>T
|
|
|
NM_006073.4(TRDN):c.1989T>C (p.Asp663=)
|
|
|
NM_006073.4(TRDN):c.2014+15T>C
|
rs2114505350
|
|
NM_006073.4(TRDN):c.2014+17T>C
|
rs2114505346
|
|
NM_006073.4(TRDN):c.2014+20A>G
|
rs2114505323
|
|
NM_006073.4(TRDN):c.2014+9G>T
|
|
|
NM_006073.4(TRDN):c.2015-6C>T
|
|
|
NM_006073.4(TRDN):c.2015-7C>T
|
|
|
NM_006073.4(TRDN):c.2037C>T (p.Pro679=)
|
|
|
NM_006073.4(TRDN):c.2043G>A (p.Lys681=)
|
|
|
NM_006073.4(TRDN):c.2050+11A>T
|
|
|
NM_006073.4(TRDN):c.2050+14_2050+18del
|
|
|
NM_006073.4(TRDN):c.2050+18T>C
|
|
|
NM_006073.4(TRDN):c.2050+7T>G
|
|
|
NM_006073.4(TRDN):c.2051-12T>C
|
|
|
NM_006073.4(TRDN):c.2051-13C>A
|
rs763319003
|
|
NM_006073.4(TRDN):c.2051-13C>T
|
|
|
NM_006073.4(TRDN):c.2051-19_2051-18inv
|
|
|
NM_006073.4(TRDN):c.2051-5C>T
|
|
|
NM_006073.4(TRDN):c.2121T>A (p.Thr707=)
|
|
|
NM_006073.4(TRDN):c.213G>A (p.Val71=)
|
|
|
NM_006073.4(TRDN):c.2160T>C (p.Asn720=)
|
|
|
NM_006073.4(TRDN):c.2169A>G (p.Gly723=)
|
|
|
NM_006073.4(TRDN):c.2189A>G (p.Ter730=)
|
|
|
NM_006073.4(TRDN):c.22+19G>C
|
|
|
NM_006073.4(TRDN):c.232+11T>C
|
|
|
NM_006073.4(TRDN):c.232+20G>C
|
|
|
NM_006073.4(TRDN):c.233-12A>G
|
|
|
NM_006073.4(TRDN):c.233-20T>C
|
|
|
NM_006073.4(TRDN):c.233-8A>G
|
|
|
NM_006073.4(TRDN):c.237C>T (p.Ser79=)
|
rs2114437291
|
|
NM_006073.4(TRDN):c.24A>G (p.Gly8=)
|
|
|
NM_006073.4(TRDN):c.255C>T (p.Gly85=)
|
|
|
NM_006073.4(TRDN):c.271C>T (p.Leu91=)
|
|
|
NM_006073.4(TRDN):c.294A>G (p.Glu98=)
|
|
|
NM_006073.4(TRDN):c.312T>C (p.Tyr104=)
|
|
|
NM_006073.4(TRDN):c.328T>C (p.Leu110=)
|
|
|
NM_006073.4(TRDN):c.348T>C (p.Ser116=)
|
rs746361154
|
|
NM_006073.4(TRDN):c.384T>C (p.Thr128=)
|
rs2114436256
|
|
NM_006073.4(TRDN):c.391+13T>C
|
|
|
NM_006073.4(TRDN):c.391+19T>A
|
|
|
NM_006073.4(TRDN):c.391+20A>G
|
|
|
NM_006073.4(TRDN):c.392-11T>C
|
|
|
NM_006073.4(TRDN):c.392-16T>C
|
|
|
NM_006073.4(TRDN):c.392-6G>C
|
rs1781166505
|
|
NM_006073.4(TRDN):c.392-7G>T
|
rs1781166753
|
|
NM_006073.4(TRDN):c.402T>C (p.Asp134=)
|
rs1583222819
|
|
NM_006073.4(TRDN):c.411C>T (p.Pro137=)
|
|
|
NM_006073.4(TRDN):c.414G>A (p.Leu138=)
|
|
|
NM_006073.4(TRDN):c.417A>G (p.Arg139=)
|
rs1781163116
|
|
NM_006073.4(TRDN):c.424+12T>C
|
|
|
NM_006073.4(TRDN):c.424+13C>T
|
|
|
NM_006073.4(TRDN):c.424+14A>G
|
|
|
NM_006073.4(TRDN):c.424+8G>A
|
rs906772880
|
|
NM_006073.4(TRDN):c.425-11T>C
|
rs2114339291
|
|
NM_006073.4(TRDN):c.425-11dup
|
rs950851610
|
|
NM_006073.4(TRDN):c.425-12A>G
|
|
|
NM_006073.4(TRDN):c.425-14C>A
|
|
|
NM_006073.4(TRDN):c.425-7T>C
|
|
|
NM_006073.4(TRDN):c.432C>T (p.His144=)
|
|
|
NM_006073.4(TRDN):c.480T>C (p.Thr160=)
|
rs1020844292
|
|
NM_006073.4(TRDN):c.484+10T>C
|
|
|
NM_006073.4(TRDN):c.484+17A>G
|
|
|
NM_006073.4(TRDN):c.485-18_485-15del
|
|
|
NM_006073.4(TRDN):c.485-19T>C
|
|
|
NM_006073.4(TRDN):c.485-20A>G
|
|
|
NM_006073.4(TRDN):c.485-8C>T
|
rs767131579
|
|
NM_006073.4(TRDN):c.523A>C (p.Arg175=)
|
|
|
NM_006073.4(TRDN):c.525A>G (p.Arg175=)
|
|
|
NM_006073.4(TRDN):c.550+12C>T
|
rs2114871069
|
|
NM_006073.4(TRDN):c.551-10T>C
|
|
|
NM_006073.4(TRDN):c.551-11T>A
|
|
|
NM_006073.4(TRDN):c.551-19G>C
|
|
|
NM_006073.4(TRDN):c.551-20T>C
|
rs1554251627
|
|
NM_006073.4(TRDN):c.551-7G>A
|
|
|
NM_006073.4(TRDN):c.551-7G>C
|
|
|
NM_006073.4(TRDN):c.579A>G (p.Lys193=)
|
|
|
NM_006073.4(TRDN):c.585A>G (p.Lys195=)
|
|
|
NM_006073.4(TRDN):c.591A>G (p.Glu197=)
|
|
|
NM_006073.4(TRDN):c.610+10C>A
|
rs1779222090
|
|
NM_006073.4(TRDN):c.610+10C>G
|
|
|
NM_006073.4(TRDN):c.610+11A>G
|
|
|
NM_006073.4(TRDN):c.630T>C (p.Thr210=)
|
|
|
NM_006073.4(TRDN):c.651G>A (p.Lys217=)
|
rs781233223
|
|
NM_006073.4(TRDN):c.669A>G (p.Lys223=)
|
|
|
NM_006073.4(TRDN):c.693G>A (p.Lys231=)
|
rs754258360
|
|
NM_006073.4(TRDN):c.705A>G (p.Ala235=)
|
rs1778803094
|
|
NM_006073.4(TRDN):c.780G>A (p.Lys260=)
|
rs771614858
|
|
NM_006073.4(TRDN):c.793+16A>C
|
|
|
NM_006073.4(TRDN):c.793+7A>G
|
rs373240967
|
|
NM_006073.4(TRDN):c.794-10A>G
|
|
|
NM_006073.4(TRDN):c.794-11T>C
|
|
|
NM_006073.4(TRDN):c.794-12C>T
|
|
|
NM_006073.4(TRDN):c.794-8T>A
|
|
|
NM_006073.4(TRDN):c.794-9C>T
|
|
|
NM_006073.4(TRDN):c.81C>T (p.Ser27=)
|
rs2114538002
|
|
NM_006073.4(TRDN):c.853+10G>A
|
|
|
NM_006073.4(TRDN):c.853+11C>T
|
|
|
NM_006073.4(TRDN):c.854-10C>A
|
|
|
NM_006073.4(TRDN):c.854-13C>G
|
|
|
NM_006073.4(TRDN):c.854-17A>G
|
rs1776700892
|
|
NM_006073.4(TRDN):c.854-4G>A
|
|
|
NM_006073.4(TRDN):c.861C>T (p.Ser287=)
|
rs769586528
|
|
NM_006073.4(TRDN):c.876T>A (p.Pro292=)
|
|
|
NM_006073.4(TRDN):c.87A>T (p.Gly29=)
|
|
|
NM_006073.4(TRDN):c.901A>C (p.Arg301=)
|
|
|
NM_006073.4(TRDN):c.931+14T>G
|
|
|
NM_006073.4(TRDN):c.931+9T>C
|
rs2114709001
|
|
NM_006073.4(TRDN):c.932-6C>A
|
rs886061033
|
|
NM_006073.4(TRDN):c.945A>G (p.Glu315=)
|
|
|
NM_006073.4(TRDN):c.948G>A (p.Lys316=)
|
rs1060504473
|
|
NM_006073.4(TRDN):c.963G>A (p.Lys321=)
|
|
|
NM_006073.4(TRDN):c.991+19A>G
|
|
|
NM_006073.4(TRDN):c.992-13A>G
|
|
|
NM_006073.4(TRDN):c.992-15T>C
|
|
|
NM_006073.4(TRDN):c.992-6C>T
|
|
|
NM_006073.4(TRDN):c.992-8A>G
|
|
|
NM_013266.4(CTNNA3):c.1047+9C>T
|
|
|
NM_013266.4(CTNNA3):c.1048-19C>T
|
rs367593058
|
|
NM_013266.4(CTNNA3):c.1095C>T (p.Asn365=)
|
|
|
NM_013266.4(CTNNA3):c.1116C>T (p.Asp372=)
|
|
|
NM_013266.4(CTNNA3):c.1128+14G>A
|
|
|
NM_013266.4(CTNNA3):c.1128+16G>C
|
|
|
NM_013266.4(CTNNA3):c.1128+18T>G
|
|
|
NM_013266.4(CTNNA3):c.1128+8A>C
|
|
|
NM_013266.4(CTNNA3):c.1129-11T>C
|
|
|
NM_013266.4(CTNNA3):c.1129-18T>C
|
|
|
NM_013266.4(CTNNA3):c.1143T>C (p.Ile381=)
|
|
|
NM_013266.4(CTNNA3):c.1152T>C (p.His384=)
|
|
|
NM_013266.4(CTNNA3):c.1179A>G (p.Thr393=)
|
|
|
NM_013266.4(CTNNA3):c.1182C>T (p.Val394=)
|
rs927559123
|
|
NM_013266.4(CTNNA3):c.1236A>G (p.Lys412=)
|
rs150167695
|
|
NM_013266.4(CTNNA3):c.1242T>C (p.Tyr414=)
|
|
|
NM_013266.4(CTNNA3):c.1281+12A>G
|
|
|
NM_013266.4(CTNNA3):c.1281+14A>G
|
|
|
NM_013266.4(CTNNA3):c.1282-13G>C
|
rs1333654338
|
|
NM_013266.4(CTNNA3):c.1282-4T>G
|
|
|
NM_013266.4(CTNNA3):c.1365G>A (p.Leu455=)
|
rs1173333011
|
|
NM_013266.4(CTNNA3):c.1374+10C>A
|
|
|
NM_013266.4(CTNNA3):c.1374+12_1374+13del
|
|
|
NM_013266.4(CTNNA3):c.1374+14G>C
|
|
|
NM_013266.4(CTNNA3):c.1374+17A>C
|
|
|
NM_013266.4(CTNNA3):c.1374+9A>G
|
|
|
NM_013266.4(CTNNA3):c.1386T>G (p.Ala462=)
|
|
|
NM_013266.4(CTNNA3):c.1401T>A (p.Ala467=)
|
|
|
NM_013266.4(CTNNA3):c.1422G>T (p.Ala474=)
|
|
|
NM_013266.4(CTNNA3):c.1455A>C (p.Thr485=)
|
|
|
NM_013266.4(CTNNA3):c.1455A>G (p.Thr485=)
|
rs573782659
|
|
NM_013266.4(CTNNA3):c.150A>G (p.Gly50=)
|
|
|
NM_013266.4(CTNNA3):c.1524T>A (p.Ala508=)
|
|
|
NM_013266.4(CTNNA3):c.1531+12T>A
|
rs2132020695
|
|
NM_013266.4(CTNNA3):c.1531+17T>C
|
|
|
NM_013266.4(CTNNA3):c.1532-7C>T
|
rs1465457123
|
|
NM_013266.4(CTNNA3):c.1536C>T (p.Ser512=)
|
rs1060504519
|
|
NM_013266.4(CTNNA3):c.1560G>A (p.Lys520=)
|
|
|
NM_013266.4(CTNNA3):c.156G>A (p.Ser52=)
|
rs61759502
|
|
NM_013266.4(CTNNA3):c.1611G>T (p.Ala537=)
|
|
|
NM_013266.4(CTNNA3):c.1614T>C (p.Gly538=)
|
rs2092818203
|
|
NM_013266.4(CTNNA3):c.1617T>C (p.Ala539=)
|
rs2132488633
|
|
NM_013266.4(CTNNA3):c.1620C>T (p.Ile540=)
|
|
|
NM_013266.4(CTNNA3):c.1623A>G (p.Arg541=)
|
|
|
NM_013266.4(CTNNA3):c.1650C>T (p.Ile550=)
|
|
|
NM_013266.4(CTNNA3):c.1656G>A (p.Thr552=)
|
|
|
NM_013266.4(CTNNA3):c.1710T>C (p.Asn570=)
|
|
|
NM_013266.4(CTNNA3):c.1732+13C>G
|
|
|
NM_013266.4(CTNNA3):c.1732+16A>C
|
rs775638559
|
|
NM_013266.4(CTNNA3):c.1732+16A>G
|
|
|
NM_013266.4(CTNNA3):c.1732+20C>G
|
|
|
NM_013266.4(CTNNA3):c.1733-18T>C
|
|
|
NM_013266.4(CTNNA3):c.1733-20C>T
|
rs2091476722
|
|
NM_013266.4(CTNNA3):c.177A>G (p.Leu59=)
|
rs1564778448
|
|
NM_013266.4(CTNNA3):c.1792T>C (p.Leu598=)
|
rs187527391
|
|
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=)
|
rs774209973
|
|
NM_013266.4(CTNNA3):c.1854T>C (p.His618=)
|
|
|
NM_013266.4(CTNNA3):c.1857T>C (p.Asp619=)
|
|
|
NM_013266.4(CTNNA3):c.1882C>A (p.Arg628=)
|
rs149081490
|
|
NM_013266.4(CTNNA3):c.1884+10C>A
|
|
|
NM_013266.4(CTNNA3):c.1884+20C>T
|
|
|
NM_013266.4(CTNNA3):c.1884+9G>A
|
rs2132158477
|
|
NM_013266.4(CTNNA3):c.1884+9G>T
|
|
|
NM_013266.4(CTNNA3):c.1885-11T>C
|
|
|
NM_013266.4(CTNNA3):c.1885-12T>G
|
|
|
NM_013266.4(CTNNA3):c.1885-19T>C
|
|
|
NM_013266.4(CTNNA3):c.1885-3T>C
|
|
|
NM_013266.4(CTNNA3):c.1885-7T>C
|
|
|
NM_013266.4(CTNNA3):c.1897C>T (p.Leu633=)
|
rs2081724004
|
|
NM_013266.4(CTNNA3):c.189G>A (p.Glu63=)
|
|
|
NM_013266.4(CTNNA3):c.1953T>C (p.Ile651=)
|
|
|
NM_013266.4(CTNNA3):c.1959C>A (p.Thr653=)
|
|
|
NM_013266.4(CTNNA3):c.1965G>A (p.Gly655=)
|
|
|
NM_013266.4(CTNNA3):c.1971T>A (p.Thr657=)
|
|
|
NM_013266.4(CTNNA3):c.1977+12C>G
|
|
|
NM_013266.4(CTNNA3):c.1977+14A>G
|
|
|
NM_013266.4(CTNNA3):c.1977+9C>T
|
|
|
NM_013266.4(CTNNA3):c.1978-17A>C
|
|
|
NM_013266.4(CTNNA3):c.1978-7G>A
|
rs1466748500
|
|
NM_013266.4(CTNNA3):c.2097C>T (p.Asn699=)
|
|
|
NM_013266.4(CTNNA3):c.2159+15A>C
|
|
|
NM_013266.4(CTNNA3):c.2159+18G>A
|
|
|
NM_013266.4(CTNNA3):c.2160-14A>C
|
|
|
NM_013266.4(CTNNA3):c.216G>A (p.Lys72=)
|
|
|
NM_013266.4(CTNNA3):c.2172A>G (p.Pro724=)
|
rs116662854
|
|
NM_013266.4(CTNNA3):c.2184A>G (p.Thr728=)
|
|
|
NM_013266.4(CTNNA3):c.2199T>C (p.Tyr733=)
|
|
|
NM_013266.4(CTNNA3):c.2226A>G (p.Gly742=)
|
|
|
NM_013266.4(CTNNA3):c.2229A>G (p.Ser743=)
|
|
|
NM_013266.4(CTNNA3):c.2248C>A (p.Arg750=)
|
|
|
NM_013266.4(CTNNA3):c.225G>A (p.Lys75=)
|
|
|
NM_013266.4(CTNNA3):c.2265+14A>G
|
|
|
NM_013266.4(CTNNA3):c.2265+16G>A
|
|
|
NM_013266.4(CTNNA3):c.2266-4T>A
|
|
|
NM_013266.4(CTNNA3):c.2268C>T (p.Cys756=)
|
|
|
NM_013266.4(CTNNA3):c.2271A>G (p.Pro757=)
|
rs372746141
|
|
NM_013266.4(CTNNA3):c.2283T>C (p.Cys761=)
|
|
|
NM_013266.4(CTNNA3):c.2293T>C (p.Leu765=)
|
|
|
NM_013266.4(CTNNA3):c.2331C>T (p.His777=)
|
|
|
NM_013266.4(CTNNA3):c.2334A>G (p.Gln778=)
|
|
|
NM_013266.4(CTNNA3):c.2400+13T>C
|
|
|
NM_013266.4(CTNNA3):c.2400+13T>G
|
|
|
NM_013266.4(CTNNA3):c.2400+18C>G
|
|
|
NM_013266.4(CTNNA3):c.2401-17C>T
|
|
|
NM_013266.4(CTNNA3):c.2401-18T>C
|
|
|
NM_013266.4(CTNNA3):c.2401-4del
|
|
|
NM_013266.4(CTNNA3):c.2409T>C (p.Ser803=)
|
|
|
NM_013266.4(CTNNA3):c.2415A>G (p.Thr805=)
|
|
|
NM_013266.4(CTNNA3):c.2427A>G (p.Gln809=)
|
rs2077068960
|
|
NM_013266.4(CTNNA3):c.243A>C (p.Thr81=)
|
|
|
NM_013266.4(CTNNA3):c.2460A>G (p.Gln820=)
|
rs2133106495
|
|
NM_013266.4(CTNNA3):c.2478C>T (p.Tyr826=)
|
|
|
NM_013266.4(CTNNA3):c.24A>G (p.Thr8=)
|
rs1454649034
|
|
NM_013266.4(CTNNA3):c.2532A>G (p.Pro844=)
|
rs2133106045
|
|
NM_013266.4(CTNNA3):c.2572T>C (p.Leu858=)
|
rs2133105821
|
|
NM_013266.4(CTNNA3):c.258G>A (p.Glu86=)
|
|
|
NM_013266.4(CTNNA3):c.2617C>A (p.Arg873=)
|
rs761449098
|
|
NM_013266.4(CTNNA3):c.261T>C (p.Leu87=)
|
|
|
NM_013266.4(CTNNA3):c.2670A>G (p.Arg890=)
|
rs1589129191
|
|
NM_013266.4(CTNNA3):c.2674A>C (p.Arg892=)
|
|
|
NM_013266.4(CTNNA3):c.292+19G>A
|
|
|
NM_013266.4(CTNNA3):c.292+19G>T
|
|
|
NM_013266.4(CTNNA3):c.293-10T>C
|
rs566394363
|
|
NM_013266.4(CTNNA3):c.293-20T>C
|
|
|
NM_013266.4(CTNNA3):c.36T>C (p.Asp12=)
|
rs2133482257
|
|
NM_013266.4(CTNNA3):c.378T>C (p.Arg126=)
|
rs2133202953
|
|
NM_013266.4(CTNNA3):c.405C>T (p.Leu135=)
|
rs769989476
|
|
NM_013266.4(CTNNA3):c.420C>T (p.Asp140=)
|
rs1309070227
|
|
NM_013266.4(CTNNA3):c.453G>A (p.Val151=)
|
|
|
NM_013266.4(CTNNA3):c.459+17_459+31del
|
|
|
NM_013266.4(CTNNA3):c.459+19A>G
|
|
|
NM_013266.4(CTNNA3):c.459+8A>G
|
|
|
NM_013266.4(CTNNA3):c.460-4T>G
|
|
|
NM_013266.4(CTNNA3):c.480T>A (p.Ser160=)
|
rs766602512
|
|
NM_013266.4(CTNNA3):c.489T>C (p.Asn163=)
|
rs2133159494
|
|
NM_013266.4(CTNNA3):c.48G>A (p.Leu16=)
|
|
|
NM_013266.4(CTNNA3):c.510C>A (p.Leu170=)
|
|
|
NM_013266.4(CTNNA3):c.519C>T (p.Thr173=)
|
|
|
NM_013266.4(CTNNA3):c.549T>C (p.Asn183=)
|
|
|
NM_013266.4(CTNNA3):c.573T>C (p.Arg191=)
|
|
|
NM_013266.4(CTNNA3):c.580-14A>C
|
rs1864571588
|
|
NM_013266.4(CTNNA3):c.580-16T>C
|
|
|
NM_013266.4(CTNNA3):c.580-20del
|
|
|
NM_013266.4(CTNNA3):c.60A>G (p.Thr20=)
|
|
|
NM_013266.4(CTNNA3):c.612T>C (p.Ile204=)
|
|
|
NM_013266.4(CTNNA3):c.633G>A (p.Leu211=)
|
rs2132265590
|
|
NM_013266.4(CTNNA3):c.636G>A (p.Lys212=)
|
|
|
NM_013266.4(CTNNA3):c.645T>G (p.Ser215=)
|
|
|
NM_013266.4(CTNNA3):c.654G>A (p.Leu218=)
|
|
|
NM_013266.4(CTNNA3):c.699C>G (p.Ser233=)
|
rs1245665500
|
|
NM_013266.4(CTNNA3):c.6A>G (p.Ser2=)
|
|
|
NM_013266.4(CTNNA3):c.6A>T (p.Ser2=)
|
|
|
NM_013266.4(CTNNA3):c.732A>G (p.Glu244=)
|
|
|
NM_013266.4(CTNNA3):c.777C>A (p.Ile259=)
|
|
|
NM_013266.4(CTNNA3):c.78A>G (p.Leu26=)
|
|
|
NM_013266.4(CTNNA3):c.78A>T (p.Leu26=)
|
rs1250437620
|
|
NM_013266.4(CTNNA3):c.792C>T (p.Thr264=)
|
|
|
NM_013266.4(CTNNA3):c.828C>T (p.Ala276=)
|
rs2132264578
|
|
NM_013266.4(CTNNA3):c.843+12G>A
|
|
|
NM_013266.4(CTNNA3):c.843+12G>C
|
rs767324815
|
|
NM_013266.4(CTNNA3):c.844-14T>C
|
|
|
NM_013266.4(CTNNA3):c.870A>C (p.Thr290=)
|
rs369449859
|
|
NM_013266.4(CTNNA3):c.882G>A (p.Glu294=)
|
rs2132138344
|
|
NM_013266.4(CTNNA3):c.930G>T (p.Gly310=)
|
rs144152750
|
|
NM_013266.4(CTNNA3):c.951T>C (p.Ser317=)
|
|
|
NM_013266.4(CTNNA3):c.954A>G (p.Ser318=)
|
rs1379551332
|
|
NM_013266.4(CTNNA3):c.987C>T (p.Ile329=)
|
|
|
NM_013266.4(CTNNA3):c.99+12A>T
|
|
|
NM_013266.4(CTNNA3):c.99+20T>G
|
|
|
NM_013266.4(CTNNA3):c.999C>T (p.Asn333=)
|
rs146754105
|
|
NM_024334.3(TMEM43):c.1000+13G>C
|
|
|
NM_024334.3(TMEM43):c.1001-10C>T
|
|
|
NM_024334.3(TMEM43):c.1001-4A>G
|
rs960212953
|
|
NM_024334.3(TMEM43):c.1001-6C>T
|
rs2124997132
|
|
NM_024334.3(TMEM43):c.102T>A (p.Gly34=)
|
|
|
NM_024334.3(TMEM43):c.1041C>T (p.Gly347=)
|
rs1574942089
|
|
NM_024334.3(TMEM43):c.1050C>G (p.Ala350=)
|
|
|
NM_024334.3(TMEM43):c.1050C>T (p.Ala350=)
|
rs1574942095
|
|
NM_024334.3(TMEM43):c.105G>A (p.Gly35=)
|
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
NM_024334.3(TMEM43):c.1068C>G (p.Ala356=)
|
|
|
NM_024334.3(TMEM43):c.1068C>T (p.Ala356=)
|
|
|
NM_024334.3(TMEM43):c.1075C>T (p.Leu359=)
|
rs767824014
|
|
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=)
|
rs370839609
|
|
NM_024334.3(TMEM43):c.1086G>A (p.Leu362=)
|
|
|
NM_024334.3(TMEM43):c.1119C>A (p.Pro373=)
|
|
|
NM_024334.3(TMEM43):c.1122G>A (p.Leu374=)
|
|
|
NM_024334.3(TMEM43):c.1128C>T (p.Ala376=)
|
|
|
NM_024334.3(TMEM43):c.1149C>A (p.Ala383=)
|
|
|
NM_024334.3(TMEM43):c.1164T>C (p.Leu388=)
|
rs1035334505
|
|
NM_024334.3(TMEM43):c.1167T>C (p.Val389=)
|
rs1695251041
|
|
NM_024334.3(TMEM43):c.1188C>T (p.Ala396=)
|
rs2124997491
|
|
NM_024334.3(TMEM43):c.12+16C>T
|
|
|
NM_024334.3(TMEM43):c.12+19G>A
|
|
|
NM_024334.3(TMEM43):c.1202del (p.Glu400_Ter401insTer)
|
|
|
NM_024334.3(TMEM43):c.13-12del
|
|
|
NM_024334.3(TMEM43):c.13-18C>T
|
|
|
NM_024334.3(TMEM43):c.13-4T>C
|
rs766665492
|
|
NM_024334.3(TMEM43):c.135C>G (p.Leu45=)
|
|
|
NM_024334.3(TMEM43):c.145C>T (p.Leu49=)
|
|
|
NM_024334.3(TMEM43):c.162+17C>T
|
rs1229821290
|
|
NM_024334.3(TMEM43):c.162+20C>T
|
|
|
NM_024334.3(TMEM43):c.162+21del
|
|
|
NM_024334.3(TMEM43):c.163-20C>T
|
|
|
NM_024334.3(TMEM43):c.165C>T (p.Gly55=)
|
|
|
NM_024334.3(TMEM43):c.171A>G (p.Ala57=)
|
|
|
NM_024334.3(TMEM43):c.177G>A (p.Lys59=)
|
rs1553602938
|
|
NM_024334.3(TMEM43):c.186C>T (p.Thr62=)
|
|
|
NM_024334.3(TMEM43):c.201G>A (p.Gly67=)
|
|
|
NM_024334.3(TMEM43):c.204C>G (p.Leu68=)
|
|
|
NM_024334.3(TMEM43):c.204C>T (p.Leu68=)
|
rs752403292
|
|
NM_024334.3(TMEM43):c.207G>C (p.Ser69=)
|
rs886058030
|
|
NM_024334.3(TMEM43):c.213G>T (p.Val71=)
|
rs756764750
|
|
NM_024334.3(TMEM43):c.21T>C (p.Ser7=)
|
|
|
NM_024334.3(TMEM43):c.231C>T (p.Ile77=)
|
rs899266809
|
|
NM_024334.3(TMEM43):c.255A>G (p.Glu85=)
|
|
|
NM_024334.3(TMEM43):c.258A>C (p.Gly86=)
|
|
|
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)
|
rs147319971
|
|
NM_024334.3(TMEM43):c.267G>A (p.Val89=)
|
rs763697982
|
|
NM_024334.3(TMEM43):c.273C>T (p.Ile91=)
|
rs764733979
|
|
NM_024334.3(TMEM43):c.286C>A (p.Arg96=)
|
rs754797146
|
|
NM_024334.3(TMEM43):c.288G>A (p.Arg96=)
|
rs2124987180
|
|
NM_024334.3(TMEM43):c.291A>T (p.Thr97=)
|
rs2124987190
|
|
NM_024334.3(TMEM43):c.297+13G>A
|
rs397517381
|
|
NM_024334.3(TMEM43):c.297+14G>T
|
rs1695088030
|
|
NM_024334.3(TMEM43):c.297+16G>T
|
|
|
NM_024334.3(TMEM43):c.297+17A>C
|
|
|
NM_024334.3(TMEM43):c.298-15T>C
|
|
|
NM_024334.3(TMEM43):c.298-6T>C
|
|
|
NM_024334.3(TMEM43):c.301T>C (p.Leu101=)
|
|
|
NM_024334.3(TMEM43):c.30C>T (p.Thr10=)
|
rs757554576
|
|
NM_024334.3(TMEM43):c.346C>A (p.Arg116=)
|
rs752588115
|
|
NM_024334.3(TMEM43):c.348G>A (p.Arg116=)
|
|
|
NM_024334.3(TMEM43):c.351G>A (p.Arg117=)
|
rs2124987872
|
|
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=)
|
rs2124987907
|
|
NM_024334.3(TMEM43):c.369A>G (p.Gln123=)
|
rs2124987912
|
|
NM_024334.3(TMEM43):c.390C>A (p.Ser130=)
|
|
|
NM_024334.3(TMEM43):c.392+12G>T
|
|
|
NM_024334.3(TMEM43):c.392+14G>A
|
|
|
NM_024334.3(TMEM43):c.392+16_392+32del
|
rs745331190
|
|
NM_024334.3(TMEM43):c.392+6C>T
|
rs1574937711
|
|
NM_024334.3(TMEM43):c.393-16T>A
|
|
|
NM_024334.3(TMEM43):c.393-18G>A
|
|
|
NM_024334.3(TMEM43):c.393-19T>C
|
|
|
NM_024334.3(TMEM43):c.393-4G>T
|
rs1247757810
|
|
NM_024334.3(TMEM43):c.393-6C>T
|
rs2124988705
|
|
NM_024334.3(TMEM43):c.396G>A (p.Glu132=)
|
|
|
NM_024334.3(TMEM43):c.39A>G (p.Glu13=)
|
rs1444701312
|
|
NM_024334.3(TMEM43):c.414G>A (p.Gln138=)
|
|
|
NM_024334.3(TMEM43):c.426G>A (p.Glu142=)
|
rs2124988827
|
|
NM_024334.3(TMEM43):c.430A>C (p.Arg144=)
|
|
|
NM_024334.3(TMEM43):c.442+10G>A
|
rs2124988861
|
|
NM_024334.3(TMEM43):c.442+10G>T
|
|
|
NM_024334.3(TMEM43):c.442+11G>C
|
|
|
NM_024334.3(TMEM43):c.442+13C>T
|
rs781640632
|
|
NM_024334.3(TMEM43):c.442+14C>T
|
|
|
NM_024334.3(TMEM43):c.442+19dup
|
rs768508021
|
|
NM_024334.3(TMEM43):c.443-18A>T
|
|
|
NM_024334.3(TMEM43):c.443-4G>A
|
|
|
NM_024334.3(TMEM43):c.443-5A>G
|
|
|
NM_024334.3(TMEM43):c.45C>G (p.Val15=)
|
rs150334659
|
|
NM_024334.3(TMEM43):c.48A>G (p.Lys16=)
|
|
|
NM_024334.3(TMEM43):c.492G>A (p.Glu164=)
|
rs949064136
|
|
NM_024334.3(TMEM43):c.495T>C (p.Ile165=)
|
|
|
NM_024334.3(TMEM43):c.512+15C>T
|
|
|
NM_024334.3(TMEM43):c.512+19G>A
|
rs114026215
|
|
NM_024334.3(TMEM43):c.512+7G>A
|
rs2124989229
|
|
NM_024334.3(TMEM43):c.512+9C>G
|
rs2124989236
|
|
NM_024334.3(TMEM43):c.513-11C>T
|
rs1695130290
|
|
NM_024334.3(TMEM43):c.513-14C>T
|
|
|
NM_024334.3(TMEM43):c.513-16T>G
|
|
|
NM_024334.3(TMEM43):c.513-17C>A
|
rs1230270948
|
|
NM_024334.3(TMEM43):c.513-17C>T
|
|
|
NM_024334.3(TMEM43):c.513-18G>A
|
|
|
NM_024334.3(TMEM43):c.513-20C>T
|
rs1054904116
|
|
NM_024334.3(TMEM43):c.513-7C>T
|
|
|
NM_024334.3(TMEM43):c.513-8T>C
|
rs2124989875
|
|
NM_024334.3(TMEM43):c.513-9C>G
|
rs369551282
|
|
NM_024334.3(TMEM43):c.51T>G (p.Val17=)
|
rs397517383
|
|
NM_024334.3(TMEM43):c.536_537inv (p.Met179Thr)
|
|
|
NM_024334.3(TMEM43):c.549C>G (p.Pro183=)
|
|
|
NM_024334.3(TMEM43):c.552T>C (p.Phe184=)
|
|
|
NM_024334.3(TMEM43):c.573C>T (p.Phe191=)
|
rs1276996116
|
|
NM_024334.3(TMEM43):c.576C>T (p.Leu192=)
|
rs1574938735
|
|
NM_024334.3(TMEM43):c.57C>G (p.Thr19=)
|
|
|
NM_024334.3(TMEM43):c.57C>T (p.Thr19=)
|
|
|
NM_024334.3(TMEM43):c.583+10A>T
|
rs760105643
|
|
NM_024334.3(TMEM43):c.583+13C>T
|
|
|
NM_024334.3(TMEM43):c.583+16C>T
|
|
|
NM_024334.3(TMEM43):c.583+7C>T
|
|
|
NM_024334.3(TMEM43):c.583+8T>A
|
|
|
NM_024334.3(TMEM43):c.583+9C>G
|
|
|
NM_024334.3(TMEM43):c.584-15C>T
|
rs1298507684
|
|
NM_024334.3(TMEM43):c.584-18C>T
|
|
|
NM_024334.3(TMEM43):c.584-5C>T
|
rs932265324
|
|
NM_024334.3(TMEM43):c.584-7C>G
|
rs773841507
|
|
NM_024334.3(TMEM43):c.584-7C>T
|
|
|
NM_024334.3(TMEM43):c.588C>T (p.Leu196=)
|
|
|
NM_024334.3(TMEM43):c.60C>T (p.Ser20=)
|
|
|
NM_024334.3(TMEM43):c.615C>G (p.Ser205=)
|
rs761287242
|
|
NM_024334.3(TMEM43):c.622C>T (p.Leu208=)
|
rs1246435835
|
|
NM_024334.3(TMEM43):c.627C>T (p.Ser209=)
|
|
|
NM_024334.3(TMEM43):c.630G>A (p.Lys210=)
|
rs1057523392
|
|
NM_024334.3(TMEM43):c.645T>C (p.His215=)
|
rs370782259
|
|
NM_024334.3(TMEM43):c.69A>C (p.Pro23=)
|
rs767619018
|
|
NM_024334.3(TMEM43):c.705+12G>A
|
rs2124991000
|
|
NM_024334.3(TMEM43):c.705+14C>G
|
rs983517574
|
|
NM_024334.3(TMEM43):c.705+15C>A
|
|
|
NM_024334.3(TMEM43):c.705+16T>C
|
|
|
NM_024334.3(TMEM43):c.705+20C>T
|
|
|
NM_024334.3(TMEM43):c.705+7G>C
|
rs201916031
|
|
NM_024334.3(TMEM43):c.706-13C>T
|
|
|
NM_024334.3(TMEM43):c.706-15C>G
|
|
|
NM_024334.3(TMEM43):c.706-20T>C
|
rs1001419903
|
|
NM_024334.3(TMEM43):c.706-4C>G
|
rs760936714
|
|
NM_024334.3(TMEM43):c.706-6C>T
|
rs1404287765
|
|
NM_024334.3(TMEM43):c.714C>T (p.Asp238=)
|
|
|
NM_024334.3(TMEM43):c.723C>T (p.Val241=)
|
|
|
NM_024334.3(TMEM43):c.744G>A (p.Leu248=)
|
rs533455369
|
|
NM_024334.3(TMEM43):c.753T>C (p.Asp251=)
|
rs2124991349
|
|
NM_024334.3(TMEM43):c.756C>T (p.Asp252=)
|
|
|
NM_024334.3(TMEM43):c.759T>C (p.Pro253=)
|
|
|
NM_024334.3(TMEM43):c.780+13C>T
|
|
|
NM_024334.3(TMEM43):c.780+18G>A
|
|
|
NM_024334.3(TMEM43):c.780+19G>A
|
rs2124991426
|
|
NM_024334.3(TMEM43):c.780+7T>G
|
|
|
NM_024334.3(TMEM43):c.781-10C>G
|
rs1695161102
|
|
NM_024334.3(TMEM43):c.781-13G>C
|
|
|
NM_024334.3(TMEM43):c.781-16C>T
|
|
|
NM_024334.3(TMEM43):c.781-17C>A
|
|
|
NM_024334.3(TMEM43):c.781-17C>G
|
|
|
NM_024334.3(TMEM43):c.781-19C>T
|
|
|
NM_024334.3(TMEM43):c.781-4C>G
|
rs1445555724
|
|
NM_024334.3(TMEM43):c.792T>C (p.Ile264=)
|
rs1408153534
|
|
NM_024334.3(TMEM43):c.795C>T (p.Ala265=)
|
|
|
NM_024334.3(TMEM43):c.804G>A (p.Arg268=)
|
|
|
NM_024334.3(TMEM43):c.810C>T (p.Asp270=)
|
rs763026916
|
|
NM_024334.3(TMEM43):c.813G>A (p.Gln271=)
|
|
|
NM_024334.3(TMEM43):c.814C>T (p.Leu272=)
|
rs759993739
|
|
NM_024334.3(TMEM43):c.837T>G (p.Ser279=)
|
rs751086845
|
|
NM_024334.3(TMEM43):c.846C>A (p.Thr282=)
|
rs1384290838
|
|
NM_024334.3(TMEM43):c.846C>T (p.Thr282=)
|
rs1384290838
|
|
NM_024334.3(TMEM43):c.849A>G (p.Leu283=)
|
rs1695162928
|
|
NM_024334.3(TMEM43):c.850C>T (p.Leu284=)
|
|
|
NM_024334.3(TMEM43):c.855C>T (p.Leu285=)
|
|
|
NM_024334.3(TMEM43):c.861C>T (p.His287=)
|
|
|
NM_024334.3(TMEM43):c.867G>A (p.Gly289=)
|
|
|
NM_024334.3(TMEM43):c.882+12G>A
|
|
|
NM_024334.3(TMEM43):c.882+13C>A
|
|
|
NM_024334.3(TMEM43):c.882+17A>C
|
|
|
NM_024334.3(TMEM43):c.882+18C>T
|
rs1695163911
|
|
NM_024334.3(TMEM43):c.882+20C>T
|
rs1695163974
|
|
NM_024334.3(TMEM43):c.883-13C>A
|
|
|
NM_024334.3(TMEM43):c.883-15C>G
|
|
|
NM_024334.3(TMEM43):c.883-16C>T
|
rs2124995118
|
|
NM_024334.3(TMEM43):c.883-6C>T
|
|
|
NM_024334.3(TMEM43):c.894T>C (p.His298=)
|
|
|
NM_024334.3(TMEM43):c.924C>G (p.Thr308=)
|
|
|
NM_024334.3(TMEM43):c.924C>T (p.Thr308=)
|
|
|
NM_024334.3(TMEM43):c.990C>G (p.Leu330=)
|
|
|
NM_024334.3(TMEM43):c.990C>T (p.Leu330=)
|
rs780129544
|
|
NM_024334.3(TMEM43):c.99G>C (p.Ser33=)
|
rs147710692
|
|
NM_024334.3(TMEM43):c.9G>A (p.Ala3=)
|
|
|
NM_024422.6(DSC2):c.1005A>G (p.Leu335=)
|
|
|
NM_024422.6(DSC2):c.1020T>G (p.Thr340=)
|
|
|
NM_024422.6(DSC2):c.1029T>C (p.Ile343=)
|
rs1555639124
|
|
NM_024422.6(DSC2):c.1038T>C (p.Asp346=)
|
rs2144821248
|
|
NM_024422.6(DSC2):c.1041T>C (p.Asp347=)
|
rs758394251
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
NM_024422.6(DSC2):c.1078-7A>G
|
rs781417647
|
|
NM_024422.6(DSC2):c.1104A>T (p.Thr368=)
|
rs765717538
|
|
NM_024422.6(DSC2):c.1134T>C (p.Val378=)
|
rs921023156
|
|
NM_024422.6(DSC2):c.1140T>C (p.Asp380=)
|
rs1252165791
|
|
NM_024422.6(DSC2):c.1146C>T (p.Asp382=)
|
|
|
NM_024422.6(DSC2):c.114T>C (p.His38=)
|
|
|
NM_024422.6(DSC2):c.120C>T (p.Pro40=)
|
|
|
NM_024422.6(DSC2):c.1260T>C (p.Val420=)
|
rs2144818822
|
|
NM_024422.6(DSC2):c.1263+12T>C
|
|
|
NM_024422.6(DSC2):c.1263+14A>T
|
|
|
NM_024422.6(DSC2):c.1263+19A>G
|
|
|
NM_024422.6(DSC2):c.1263+8_1263+10del
|
rs2144818765
|
|
NM_024422.6(DSC2):c.1264-15C>T
|
rs1361768625
|
|
NM_024422.6(DSC2):c.1264-19A>G
|
|
|
NM_024422.6(DSC2):c.1284G>A (p.Lys428=)
|
rs1987176408
|
|
NM_024422.6(DSC2):c.129A>G (p.Leu43=)
|
rs1987671247
|
|
NM_024422.6(DSC2):c.12C>A (p.Ala4=)
|
rs1555641335
|
|
NM_024422.6(DSC2):c.1317T>C (p.Asn439=)
|
rs1987173870
|
|
NM_024422.6(DSC2):c.1323T>C (p.Ala441=)
|
rs745795354
|
|
NM_024422.6(DSC2):c.1323T>G (p.Ala441=)
|
rs745795354
|
|
NM_024422.6(DSC2):c.1326A>C (p.Pro442=)
|
|
|
NM_024422.6(DSC2):c.1326A>G (p.Pro442=)
|
|
|
NM_024422.6(DSC2):c.1371A>C (p.Thr457=)
|
|
|
NM_024422.6(DSC2):c.1371A>G (p.Thr457=)
|
rs1555638728
|
|
NM_024422.6(DSC2):c.1374T>A (p.Val458=)
|
rs1295460147
|
|
NM_024422.6(DSC2):c.1377T>A (p.Thr459=)
|
|
|
NM_024422.6(DSC2):c.1446A>G (p.Glu482=)
|
|
|
NM_024422.6(DSC2):c.1452A>G (p.Ala484=)
|
rs1555638690
|
|
NM_024422.6(DSC2):c.1476A>T (p.Gly492=)
|
|
|
NM_024422.6(DSC2):c.1479T>C (p.Tyr493=)
|
|
|
NM_024422.6(DSC2):c.1494A>G (p.Pro498=)
|
|
|
NM_024422.6(DSC2):c.1520+11T>C
|
|
|
NM_024422.6(DSC2):c.1520+20A>T
|
|
|
NM_024422.6(DSC2):c.1521-11A>G
|
|
|
NM_024422.6(DSC2):c.1521-14A>G
|
|
|
NM_024422.6(DSC2):c.1521-23_1521-8del
|
|
|
NM_024422.6(DSC2):c.154+15A>C
|
|
|
NM_024422.6(DSC2):c.154+9G>A
|
rs562001495
|
|
NM_024422.6(DSC2):c.155-13A>G
|
|
|
NM_024422.6(DSC2):c.155-15G>A
|
|
|
NM_024422.6(DSC2):c.155-17G>A
|
|
|
NM_024422.6(DSC2):c.155-17G>T
|
|
|
NM_024422.6(DSC2):c.155-19C>G
|
|
|
NM_024422.6(DSC2):c.1557C>T (p.Thr519=)
|
rs778658088
|
|
NM_024422.6(DSC2):c.1569T>C (p.Asn523=)
|
|
|
NM_024422.6(DSC2):c.1575A>T (p.Gly525=)
|
|
|
NM_024422.6(DSC2):c.1581C>A (p.Ile527=)
|
|
|
NM_024422.6(DSC2):c.1608G>A (p.Glu536=)
|
|
|
NM_024422.6(DSC2):c.1620C>A (p.Ile540=)
|
rs765374888
|
|
NM_024422.6(DSC2):c.1620C>T (p.Ile540=)
|
|
|
NM_024422.6(DSC2):c.1647C>T (p.Val549=)
|
rs2144812470
|
|
NM_024422.6(DSC2):c.1653A>G (p.Ala551=)
|
rs1021990449
|
|
NM_024422.6(DSC2):c.1663+9T>C
|
|
|
NM_024422.6(DSC2):c.1664-10A>G
|
|
|
NM_024422.6(DSC2):c.1664-19T>C
|
|
|
NM_024422.6(DSC2):c.1664-23TATTTT[3]
|
|
|
NM_024422.6(DSC2):c.1664-4C>A
|
|
|
NM_024422.6(DSC2):c.1686A>C (p.Thr562=)
|
rs1986964013
|
|
NM_024422.6(DSC2):c.168G>A (p.Glu56=)
|
|
|
NM_024422.6(DSC2):c.1707C>T (p.Asp569=)
|
rs201517977
|
|
NM_024422.6(DSC2):c.171C>T (p.Cys57=)
|
|
|
NM_024422.6(DSC2):c.1728C>T (p.Phe576=)
|
rs1458351294
|
|
NM_024422.6(DSC2):c.1734T>G (p.Pro578=)
|
|
|
NM_024422.6(DSC2):c.1743A>T (p.Thr581=)
|
|
|
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)
|
rs755041461
|
|
NM_024422.6(DSC2):c.1752C>T (p.Ile584=)
|
|
|
NM_024422.6(DSC2):c.1755C>T (p.Cys585=)
|
|
|
NM_024422.6(DSC2):c.1791T>C (p.Val597=)
|
|
|
NM_024422.6(DSC2):c.180T>A (p.Ala60=)
|
rs2144847012
|
|
NM_024422.6(DSC2):c.1812T>C (p.His604=)
|
|
|
NM_024422.6(DSC2):c.1815C>T (p.Gly605=)
|
rs770678394
|
|
NM_024422.6(DSC2):c.1824T>C (p.Phe608=)
|
|
|
NM_024422.6(DSC2):c.1830T>C (p.Phe610=)
|
rs1986953386
|
|
NM_024422.6(DSC2):c.1833T>C (p.Ser611=)
|
rs2144799607
|
|
NM_024422.6(DSC2):c.183A>G (p.Ala61=)
|
|
|
NM_024422.6(DSC2):c.1848T>A (p.Thr616=)
|
|
|
NM_024422.6(DSC2):c.1875G>A (p.Leu625=)
|
rs142594406
|
|
NM_024422.6(DSC2):c.187C>T (p.Leu63=)
|
rs1987628241
|
|
NM_024422.6(DSC2):c.1888+13G>C
|
|
|
NM_024422.6(DSC2):c.1888+13G>T
|
|
|
NM_024422.6(DSC2):c.1888+20G>A
|
|
|
NM_024422.6(DSC2):c.1889-14A>G
|
|
|
NM_024422.6(DSC2):c.1889-20T>G
|
|
|
NM_024422.6(DSC2):c.189A>G (p.Leu63=)
|
rs1347894973
|
|
NM_024422.6(DSC2):c.1935A>G (p.Ser645=)
|
rs878855084
|
|
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=)
|
rs397517395
|
|
NM_024422.6(DSC2):c.1956G>T (p.Val652=)
|
|
|
NM_024422.6(DSC2):c.1965A>G (p.Arg655=)
|
|
|
NM_024422.6(DSC2):c.1977T>C (p.Ser659=)
|
rs770010850
|
|
NM_024422.6(DSC2):c.1980T>C (p.Ser660=)
|
rs1986841255
|
|
NM_024422.6(DSC2):c.1989A>C (p.Ser663=)
|
|
|
NM_024422.6(DSC2):c.2010C>T (p.Asp670=)
|
|
|
NM_024422.6(DSC2):c.2013C>T (p.Cys671=)
|
rs2144791194
|
|
NM_024422.6(DSC2):c.2040T>C (p.Arg680=)
|
|
|
NM_024422.6(DSC2):c.2049A>C (p.Pro683=)
|
|
|
NM_024422.6(DSC2):c.2058C>T (p.Gly686=)
|
rs1177700048
|
|
NM_024422.6(DSC2):c.2061T>C (p.Gly687=)
|
|
|
NM_024422.6(DSC2):c.2076T>C (p.Leu692=)
|
|
|
NM_024422.6(DSC2):c.2097A>G (p.Ala699=)
|
|
|
NM_024422.6(DSC2):c.2106G>A (p.Leu702=)
|
|
|
NM_024422.6(DSC2):c.2116T>C (p.Leu706=)
|
rs1986829654
|
|
NM_024422.6(DSC2):c.2125+11A>G
|
|
|
NM_024422.6(DSC2):c.2125+16T>A
|
|
|
NM_024422.6(DSC2):c.2125+8T>C
|
|
|
NM_024422.6(DSC2):c.2125+9T>G
|
rs1555637547
|
|
NM_024422.6(DSC2):c.2126-11_2126-8del
|
rs1476161781
|
|
NM_024422.6(DSC2):c.2126-15dup
|
|
|
NM_024422.6(DSC2):c.2126-20A>C
|
|
|
NM_024422.6(DSC2):c.2126-4C>A
|
rs2144788686
|
|
NM_024422.6(DSC2):c.2126-6C>T
|
|
|
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
|
|
|
NM_024422.6(DSC2):c.2160G>C (p.Gly720=)
|
rs2144788466
|
|
NM_024422.6(DSC2):c.2175A>G (p.Pro725=)
|
|
|
NM_024422.6(DSC2):c.2194T>C (p.Leu732=)
|
|
|
NM_024422.6(DSC2):c.2199C>T (p.Ala733=)
|
|
|
NM_024422.6(DSC2):c.2205G>A (p.Gln735=)
|
|
|
NM_024422.6(DSC2):c.2217A>G (p.Val739=)
|
|
|
NM_024422.6(DSC2):c.2217A>T (p.Val739=)
|
|
|
NM_024422.6(DSC2):c.2250+14C>T
|
|
|
NM_024422.6(DSC2):c.2251-19C>T
|
|
|
NM_024422.6(DSC2):c.2251-4T>C
|
rs2144784611
|
|
NM_024422.6(DSC2):c.2262T>C (p.Asn754=)
|
rs2144784514
|
|
NM_024422.6(DSC2):c.2265C>T (p.Gly755=)
|
|
|
NM_024422.6(DSC2):c.2271A>G (p.Thr757=)
|
rs2144784473
|
|
NM_024422.6(DSC2):c.2280T>A (p.Thr760=)
|
|
|
NM_024422.6(DSC2):c.2286C>T (p.Gly762=)
|
rs549251334
|
|
NM_024422.6(DSC2):c.2289T>A (p.Ala763=)
|
|
|
NM_024422.6(DSC2):c.2289T>C (p.Ala763=)
|
rs1986739564
|
|
NM_024422.6(DSC2):c.2304T>C (p.Val768=)
|
|
|
NM_024422.6(DSC2):c.2352C>T (p.Ile784=)
|
rs562571453
|
|
NM_024422.6(DSC2):c.2373C>T (p.His791=)
|
|
|
NM_024422.6(DSC2):c.2382G>C (p.Ser794=)
|
rs761322462
|
|
NM_024422.6(DSC2):c.2394G>A (p.Arg798=)
|
rs1986729754
|
|
NM_024422.6(DSC2):c.2406C>T (p.His802=)
|
|
|
NM_024422.6(DSC2):c.240T>C (p.Tyr80=)
|
|
|
NM_024422.6(DSC2):c.2433A>T (p.Gly811=)
|
|
|
NM_024422.6(DSC2):c.2442G>C (p.Thr814=)
|
rs750971227
|
|
NM_024422.6(DSC2):c.2469C>T (p.Tyr823=)
|
rs1393087393
|
|
NM_024422.6(DSC2):c.2484T>C (p.Ser828=)
|
|
|
NM_024422.6(DSC2):c.2493G>A (p.Gln831=)
|
|
|
NM_024422.6(DSC2):c.2499T>A (p.Arg833=)
|
|
|
NM_024422.6(DSC2):c.2502T>C (p.Leu834=)
|
rs1598570166
|
|
NM_024422.6(DSC2):c.2505T>G (p.Gly835=)
|
|
|
NM_024422.6(DSC2):c.2508+15G>A
|
|
|
NM_024422.6(DSC2):c.2508+16T>A
|
|
|
NM_024422.6(DSC2):c.2508+17G>A
|
|
|
NM_024422.6(DSC2):c.2508+19C>A
|
|
|
NM_024422.6(DSC2):c.2508+20C>T
|
|
|
NM_024422.6(DSC2):c.2509-11C>G
|
rs1353395919
|
|
NM_024422.6(DSC2):c.2509-15T>A
|
rs2144781524
|
|
NM_024422.6(DSC2):c.2509-19G>A
|
|
|
NM_024422.6(DSC2):c.2509-20_2509-18del
|
|
|
NM_024422.6(DSC2):c.2509-4G>A
|
|
|
NM_024422.6(DSC2):c.2514G>A (p.Val838=)
|
|
|
NM_024422.6(DSC2):c.2529A>G (p.Gln843=)
|
|
|
NM_024422.6(DSC2):c.2541C>T (p.His847=)
|
rs1598569474
|
|
NM_024422.6(DSC2):c.2547T>C (p.His849=)
|
|
|
NM_024422.6(DSC2):c.2559T>C (p.Tyr853=)
|
|
|
NM_024422.6(DSC2):c.255T>A (p.Ile85=)
|
rs970871881
|
|
NM_024422.6(DSC2):c.255T>C (p.Ile85=)
|
|
|
NM_024422.6(DSC2):c.2562C>T (p.Val854=)
|
rs1207984278
|
|
NM_024422.6(DSC2):c.2568A>G (p.Thr856=)
|
rs1986693059
|
|
NM_024422.6(DSC2):c.2589A>T (p.Gly863=)
|
|
|
NM_024422.6(DSC2):c.2625A>G (p.Arg875=)
|
|
|
NM_024422.6(DSC2):c.2628A>G (p.Gln876=)
|
|
|
NM_024422.6(DSC2):c.2640G>A (p.Gly880=)
|
rs2144780787
|
|
NM_024422.6(DSC2):c.2646A>G (p.Glu882=)
|
rs773604134
|
|
NM_024422.6(DSC2):c.264C>T (p.Ser88=)
|
rs1435506924
|
|
NM_024422.6(DSC2):c.2679A>G (p.Thr893=)
|
|
|
NM_024422.6(DSC2):c.288A>T (p.Ile96=)
|
|
|
NM_024422.6(DSC2):c.337T>C (p.Leu113=)
|
rs2144846288
|
|
NM_024422.6(DSC2):c.33C>T (p.Asn11=)
|
rs1987976628
|
|
NM_024422.6(DSC2):c.342G>A (p.Glu114=)
|
rs1598591230
|
|
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg)
|
rs568391206
|
|
NM_024422.6(DSC2):c.354+10G>C
|
rs1987618587
|
|
NM_024422.6(DSC2):c.354+12T>A
|
|
|
NM_024422.6(DSC2):c.354+15A>C
|
rs1303672773
|
|
NM_024422.6(DSC2):c.354+16T>C
|
|
|
NM_024422.6(DSC2):c.354+7A>T
|
|
|
NM_024422.6(DSC2):c.354+9G>C
|
rs1397580089
|
|
NM_024422.6(DSC2):c.355-10A>C
|
|
|
NM_024422.6(DSC2):c.355-10A>G
|
|
|
NM_024422.6(DSC2):c.355-12T>C
|
rs1987585083
|
|
NM_024422.6(DSC2):c.355-15G>A
|
|
|
NM_024422.6(DSC2):c.355-18C>T
|
rs1159494088
|
|
NM_024422.6(DSC2):c.355-9T>C
|
rs925436741
|
|
NM_024422.6(DSC2):c.357C>T (p.Val119=)
|
rs1452043194
|
|
NM_024422.6(DSC2):c.369A>G (p.Arg123=)
|
|
|
NM_024422.6(DSC2):c.372T>C (p.His124=)
|
|
|
NM_024422.6(DSC2):c.381A>G (p.Glu127=)
|
|
|
NM_024422.6(DSC2):c.393G>A (p.Arg131=)
|
|
|
NM_024422.6(DSC2):c.417A>G (p.Pro139=)
|
|
|
NM_024422.6(DSC2):c.429G>C (p.Ser143=)
|
rs542638302
|
|
NM_024422.6(DSC2):c.441C>T (p.Asn147=)
|
rs2144843142
|
|
NM_024422.6(DSC2):c.453T>C (p.Pro151=)
|
|
|
NM_024422.6(DSC2):c.459A>G (p.Pro153=)
|
|
|
NM_024422.6(DSC2):c.471A>G (p.Gln157=)
|
rs1367783973
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
NM_024422.6(DSC2):c.475-5T>C
|
rs1555639919
|
|
NM_024422.6(DSC2):c.525T>A (p.Gly175=)
|
|
|
NM_024422.6(DSC2):c.525T>C (p.Gly175=)
|
rs541223771
|
|
NM_024422.6(DSC2):c.549G>A (p.Arg183=)
|
|
|
NM_024422.6(DSC2):c.549G>C (p.Arg183=)
|
rs774025474
|
|
NM_024422.6(DSC2):c.555A>G (p.Leu185=)
|
rs768367488
|
|
NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
|
rs1987518239
|
|
NM_024422.6(DSC2):c.621A>G (p.Glu207=)
|
|
|
NM_024422.6(DSC2):c.630+10A>G
|
rs2144838541
|
|
NM_024422.6(DSC2):c.630+12A>G
|
|
|
NM_024422.6(DSC2):c.630+19G>T
|
rs750910749
|
|
NM_024422.6(DSC2):c.630+8C>A
|
rs201147144
|
|
NM_024422.6(DSC2):c.631-10C>G
|
rs745848441
|
|
NM_024422.6(DSC2):c.631-10C>T
|
|
|
NM_024422.6(DSC2):c.631-16T>G
|
|
|
NM_024422.6(DSC2):c.631-4A>C
|
|
|
NM_024422.6(DSC2):c.636T>C (p.Ile212=)
|
|
|
NM_024422.6(DSC2):c.63C>G (p.Thr21=)
|
|
|
NM_024422.6(DSC2):c.648A>C (p.Thr216=)
|
|
|
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
|
|
|
NM_024422.6(DSC2):c.66C>T (p.Leu22=)
|
rs1987974460
|
|
NM_024422.6(DSC2):c.679C>T (p.Leu227=)
|
|
|
NM_024422.6(DSC2):c.684C>A (p.Pro228=)
|
rs2144833912
|
|
NM_024422.6(DSC2):c.684C>T (p.Pro228=)
|
|
|
NM_024422.6(DSC2):c.69+12C>A
|
rs1326854054
|
|
NM_024422.6(DSC2):c.69+15G>C
|
|
|
NM_024422.6(DSC2):c.69+7G>A
|
rs544403465
|
|
NM_024422.6(DSC2):c.69+9A>T
|
|
|
NM_024422.6(DSC2):c.693C>A (p.Ile231=)
|
rs776727405
|
|
NM_024422.6(DSC2):c.70-19A>T
|
|
|
NM_024422.6(DSC2):c.702G>A (p.Glu234=)
|
rs397517402
|
|
NM_024422.6(DSC2):c.72C>A (p.Ile24=)
|
rs757826575
|
|
NM_024422.6(DSC2):c.741T>C (p.Thr247=)
|
rs1555639671
|
|
NM_024422.6(DSC2):c.741T>G (p.Thr247=)
|
rs1555639671
|
|
NM_024422.6(DSC2):c.744T>C (p.Tyr248=)
|
rs756495155
|
|
NM_024422.6(DSC2):c.775+11C>A
|
|
|
NM_024422.6(DSC2):c.775+18C>T
|
|
|
NM_024422.6(DSC2):c.775+9C>T
|
|
|
NM_024422.6(DSC2):c.776-13dup
|
rs1987414584
|
|
NM_024422.6(DSC2):c.776-4C>A
|
|
|
NM_024422.6(DSC2):c.776-5T>C
|
|
|
NM_024422.6(DSC2):c.807C>T (p.Asp269=)
|
|
|
NM_024422.6(DSC2):c.834A>G (p.Thr278=)
|
rs2144830763
|
|
NM_024422.6(DSC2):c.858G>C (p.Gly286=)
|
|
|
NM_024422.6(DSC2):c.879C>A (p.Thr293=)
|
rs1394417853
|
|
NM_024422.6(DSC2):c.882A>G (p.Leu294=)
|
|
|
NM_024422.6(DSC2):c.906C>T (p.Gly302=)
|
rs776857618
|
|
NM_024422.6(DSC2):c.915C>T (p.Thr305=)
|
rs1429668963
|
|
NM_024422.6(DSC2):c.927T>C (p.Ser309=)
|
rs1434821927
|
|
NM_024422.6(DSC2):c.937A>C (p.Arg313=)
|
|
|
NM_024422.6(DSC2):c.93C>T (p.Ala31=)
|
|
|
NM_024422.6(DSC2):c.942+11C>A
|
|
|
NM_024422.6(DSC2):c.942+11_942+13dup
|
|
|
NM_024422.6(DSC2):c.942+14_942+15insTTG
|
rs2144830055
|
|
NM_024422.6(DSC2):c.942+21A>T
|
|
|
NM_024422.6(DSC2):c.942+8A>C
|
rs1475176981
|
|
NM_024422.6(DSC2):c.942+9A>G
|
|
|
NM_024422.6(DSC2):c.943-17T>A
|
|
|
NM_024422.6(DSC2):c.945A>G (p.Leu315=)
|
rs971660963
|
|
NM_024422.6(DSC2):c.975A>C (p.Val325=)
|
|
|
NM_024422.6(DSC2):c.978A>G (p.Gln326=)
|
rs1598583853
|
|
NM_024422.6(DSC2):c.990T>G (p.Gly330=)
|
rs1396481707
|
|